ncbi_gene_id	gene_symbol	hpo_id	hpo_name
10	NAT2	HP:0000007	Autosomal recessive inheritance
10	NAT2	HP:0001939	Abnormality of metabolism/homeostasis
16	AARS1	HP:0002460	Distal muscle weakness
16	AARS1	HP:0002451	Limb dystonia
16	AARS1	HP:0010871	Sensory ataxia
16	AARS1	HP:0009886	Trichorrhexis nodosa
16	AARS1	HP:0002421	Poor head control
16	AARS1	HP:0001298	Encephalopathy
16	AARS1	HP:0001290	Generalized hypotonia
16	AARS1	HP:0001273	Abnormal corpus callosum morphology
16	AARS1	HP:0001268	Mental deterioration
16	AARS1	HP:0002599	Head titubation
16	AARS1	HP:0001284	Areflexia
16	AARS1	HP:0001250	Seizure
16	AARS1	HP:0001251	Ataxia
16	AARS1	HP:0001249	Intellectual disability
16	AARS1	HP:0001265	Hyporeflexia
16	AARS1	HP:0001264	Spastic diplegia
16	AARS1	HP:0001263	Global developmental delay
16	AARS1	HP:0001257	Spasticity
16	AARS1	HP:0100876	Infra-orbital crease
16	AARS1	HP:0007340	Lower limb muscle weakness
16	AARS1	HP:0002521	Hypsarrhythmia
16	AARS1	HP:0002509	Limb hypertonia
16	AARS1	HP:0001332	Dystonia
16	AARS1	HP:0000007	Autosomal recessive inheritance
16	AARS1	HP:0001337	Tremor
16	AARS1	HP:0000006	Autosomal dominant inheritance
16	AARS1	HP:0001336	Myoclonus
16	AARS1	HP:0001315	Reduced tendon reflexes
16	AARS1	HP:0012196	Cheyne-Stokes respiration
16	AARS1	HP:0012179	Craniofacial dystonia
16	AARS1	HP:0008936	Axial hypotonia
16	AARS1	HP:0008944	Distal lower limb amyotrophy
16	AARS1	HP:0002020	Gastroesophageal reflux
16	AARS1	HP:0030903	Grasp reflex
16	AARS1	HP:0002063	Rigidity
16	AARS1	HP:0002072	Chorea
16	AARS1	HP:0002059	Cerebral atrophy
16	AARS1	HP:0003477	Peripheral axonal neuropathy
16	AARS1	HP:0003487	Babinski sign
16	AARS1	HP:0002133	Status epilepticus
16	AARS1	HP:0003431	Decreased motor nerve conduction velocity
16	AARS1	HP:0003429	CNS hypomyelination
16	AARS1	HP:0003438	Absent Achilles reflex
16	AARS1	HP:0002188	Delayed CNS myelination
16	AARS1	HP:0003596	Middle age onset
16	AARS1	HP:0003593	Infantile onset
16	AARS1	HP:0003577	Congenital onset
16	AARS1	HP:0003581	Adult onset
16	AARS1	HP:0100710	Impulsivity
16	AARS1	HP:0002224	Woolly hair
16	AARS1	HP:0200134	Epileptic encephalopathy
16	AARS1	HP:0007018	Attention deficit hyperactivity disorder
16	AARS1	HP:0011968	Feeding difficulties
16	AARS1	HP:0020045	Esodeviation
16	AARS1	HP:0002376	Developmental regression
16	AARS1	HP:0002355	Difficulty walking
16	AARS1	HP:0002352	Leukoencephalopathy
16	AARS1	HP:0002317	Unsteady gait
16	AARS1	HP:0010844	EEG with multifocal slow activity
16	AARS1	HP:0100660	Dyskinesia
16	AARS1	HP:0009830	Peripheral neuropathy
16	AARS1	HP:0002310	Orofacial dyskinesia
16	AARS1	HP:0003621	Juvenile onset
16	AARS1	HP:0000639	Nystagmus
16	AARS1	HP:0000648	Optic atrophy
16	AARS1	HP:0000643	Blepharospasm
16	AARS1	HP:0000601	Hypotelorism
16	AARS1	HP:0009027	Foot dorsiflexor weakness
16	AARS1	HP:0000668	Hypodontia
16	AARS1	HP:0004322	Short stature
16	AARS1	HP:0004305	Involuntary movements
16	AARS1	HP:0000751	Personality changes
16	AARS1	HP:0000750	Delayed speech and language development
16	AARS1	HP:0000717	Autism
16	AARS1	HP:0000726	Dementia
16	AARS1	HP:0000708	Atypical behavior
16	AARS1	HP:0011462	Young adult onset
16	AARS1	HP:0011443	Abnormality of coordination
16	AARS1	HP:0011448	Ankle clonus
16	AARS1	HP:0003202	Skeletal muscle atrophy
16	AARS1	HP:0045075	Sparse eyebrow
16	AARS1	HP:0008003	Jerky ocular pursuit movements
16	AARS1	HP:0000973	Cutis laxa
16	AARS1	HP:0000964	Eczema
16	AARS1	HP:0008070	Sparse hair
16	AARS1	HP:0000278	Retrognathia
16	AARS1	HP:0002827	Hip dislocation
16	AARS1	HP:0000252	Microcephaly
16	AARS1	HP:0000219	Thin upper lip vermilion
16	AARS1	HP:0001558	Decreased fetal movement
16	AARS1	HP:0031358	Vegetative state
16	AARS1	HP:0001508	Failure to thrive
16	AARS1	HP:0001511	Intrauterine growth retardation
16	AARS1	HP:0012377	Hemianopia
16	AARS1	HP:0002936	Distal sensory impairment
16	AARS1	HP:0000343	Long philtrum
16	AARS1	HP:0000348	High forehead
16	AARS1	HP:0032794	Myoclonic seizure
16	AARS1	HP:0000407	Sensorineural hearing impairment
16	AARS1	HP:0000494	Downslanted palpebral fissures
16	AARS1	HP:0012444	Brain atrophy
16	AARS1	HP:0012447	Abnormal myelination
16	AARS1	HP:0001765	Hammertoe
16	AARS1	HP:0000448	Prominent nose
16	AARS1	HP:0000411	Protruding ear
16	AARS1	HP:0001761	Pes cavus
16	AARS1	HP:0001838	Rocker bottom foot
16	AARS1	HP:0000508	Ptosis
16	AARS1	HP:0000504	Abnormality of vision
16	AARS1	HP:0012547	Abnormal involuntary eye movements
16	AARS1	HP:0000546	Retinal degeneration
18	ABAT	HP:0010851	EEG with burst suppression
18	ABAT	HP:0002415	Leukodystrophy
18	ABAT	HP:0007291	Posterior fossa cyst
18	ABAT	HP:0001274	Agenesis of corpus callosum
18	ABAT	HP:0001254	Lethargy
18	ABAT	HP:0001250	Seizure
18	ABAT	HP:0001252	Hypotonia
18	ABAT	HP:0001263	Global developmental delay
18	ABAT	HP:0003819	Death in childhood
18	ABAT	HP:0000098	Tall stature
18	ABAT	HP:0001347	Hyperreflexia
18	ABAT	HP:0000007	Autosomal recessive inheritance
18	ABAT	HP:0001321	Cerebellar hypoplasia
18	ABAT	HP:0025430	High-pitched cry
18	ABAT	HP:0011968	Feeding difficulties
18	ABAT	HP:0003623	Neonatal onset
18	ABAT	HP:0000278	Retrognathia
18	ABAT	HP:0000494	Downslanted palpebral fissures
19	ABCA1	HP:0002460	Distal muscle weakness
19	ABCA1	HP:0001114	Xanthelasma
19	ABCA1	HP:0007328	Impaired pain sensation
19	ABCA1	HP:0001265	Hyporeflexia
19	ABCA1	HP:0001349	Facial diplegia
19	ABCA1	HP:0000007	Autosomal recessive inheritance
19	ABCA1	HP:0000006	Autosomal dominant inheritance
19	ABCA1	HP:0002621	Atherosclerosis
19	ABCA1	HP:0001433	Hepatosplenomegaly
19	ABCA1	HP:0002730	Chronic noninfectious lymphadenopathy
19	ABCA1	HP:0002027	Abdominal pain
19	ABCA1	HP:0100546	Carotid artery stenosis
19	ABCA1	HP:0003396	Syringomyelia
19	ABCA1	HP:0003477	Peripheral axonal neuropathy
19	ABCA1	HP:0002155	Hypertriglyceridemia
19	ABCA1	HP:0002164	Nail dysplasia
19	ABCA1	HP:0002240	Hepatomegaly
19	ABCA1	HP:0008404	Nail dystrophy
19	ABCA1	HP:0003693	Distal amyotrophy
19	ABCA1	HP:0010829	Impaired temperature sensation
19	ABCA1	HP:0007133	Progressive peripheral neuropathy
19	ABCA1	HP:0004943	Accelerated atherosclerosis
19	ABCA1	HP:0031800	Elevated circulating apolipoprotein A-II concentration
19	ABCA1	HP:0000622	Blurred vision
19	ABCA1	HP:0001903	Anemia
19	ABCA1	HP:0031799	Decreased circulating apolipoprotein A-I concentration
19	ABCA1	HP:0000656	Ectropion
19	ABCA1	HP:0003119	Abnormal circulating lipid concentration
19	ABCA1	HP:0003146	Hypocholesterolemia
19	ABCA1	HP:0003233	Decreased HDL cholesterol concentration
19	ABCA1	HP:0030814	Orange discolored tonsils
19	ABCA1	HP:0000991	Xanthomatosis
19	ABCA1	HP:0000958	Dry skin
19	ABCA1	HP:0005145	Coronary artery stenosis
19	ABCA1	HP:0007759	Opacification of the corneal stroma
19	ABCA1	HP:0011096	Peripheral demyelination
19	ABCA1	HP:0005181	Premature coronary artery atherosclerosis
19	ABCA1	HP:0001681	Angina pectoris
19	ABCA1	HP:0001677	Coronary artery atherosclerosis
19	ABCA1	HP:0025608	Cicatricial ectropion
19	ABCA1	HP:0001658	Myocardial infarction
19	ABCA1	HP:0007957	Corneal opacity
19	ABCA1	HP:0001712	Left ventricular hypertrophy
19	ABCA1	HP:0001744	Splenomegaly
19	ABCA1	HP:0000505	Visual impairment
19	ABCA1	HP:0001873	Thrombocytopenia
20	ABCA2	HP:0001256	Intellectual disability, mild
20	ABCA2	HP:0001250	Seizure
20	ABCA2	HP:0001249	Intellectual disability
20	ABCA2	HP:0001260	Dysarthria
20	ABCA2	HP:0001324	Muscle weakness
20	ABCA2	HP:0000007	Autosomal recessive inheritance
20	ABCA2	HP:0002066	Gait ataxia
20	ABCA2	HP:0002286	Fair hair
20	ABCA2	HP:0002311	Incoordination
20	ABCA2	HP:0011342	Mild global developmental delay
20	ABCA2	HP:0031936	Delayed ability to walk
20	ABCA2	HP:0000718	Aggressive behavior
20	ABCA2	HP:0003141	Increased LDL cholesterol concentration
20	ABCA2	HP:0000252	Microcephaly
20	ABCA2	HP:0000519	Developmental cataract
21	ABCA3	HP:0025175	Honeycomb lung
21	ABCA3	HP:0025179	Ground-glass opacification
21	ABCA3	HP:0033584	Nonspecific interstitial pneumonia
21	ABCA3	HP:0033542	Bronchial wall thickening
21	ABCA3	HP:0100806	Sepsis
21	ABCA3	HP:0001217	Clubbing
21	ABCA3	HP:0033649	Paraseptal emphysema
21	ABCA3	HP:0003811	Neonatal death
21	ABCA3	HP:0025394	Cystic pattern on pulmonary HRCT
21	ABCA3	HP:0025392	Nodular pattern on pulmonary HRCT
21	ABCA3	HP:0025391	Crazy paving pattern
21	ABCA3	HP:0025390	Reticular pattern on pulmonary HRCT
21	ABCA3	HP:0000007	Autosomal recessive inheritance
21	ABCA3	HP:0002643	Neonatal respiratory distress
21	ABCA3	HP:0002615	Hypotension
21	ABCA3	HP:0002789	Tachypnea
21	ABCA3	HP:0002020	Gastroesophageal reflux
21	ABCA3	HP:0002098	Respiratory distress
21	ABCA3	HP:0002094	Dyspnea
21	ABCA3	HP:0002090	Pneumonia
21	ABCA3	HP:0010444	Pulmonary insufficiency
21	ABCA3	HP:0100598	Pulmonary edema
21	ABCA3	HP:0005942	Desquamative interstitial pneumonitis
21	ABCA3	HP:0002110	Bronchiectasis
21	ABCA3	HP:0002104	Apnea
21	ABCA3	HP:0003577	Congenital onset
21	ABCA3	HP:0002206	Pulmonary fibrosis
21	ABCA3	HP:0100750	Atelectasis
21	ABCA3	HP:0100759	Clubbing of fingers
21	ABCA3	HP:0011947	Respiratory tract infection
21	ABCA3	HP:0031950	Usual interstitial pneumonia
21	ABCA3	HP:0012735	Cough
21	ABCA3	HP:0000765	Abnormal thorax morphology
21	ABCA3	HP:0030863	Nasal flaring
21	ABCA3	HP:0030830	Crackles
21	ABCA3	HP:0000961	Cyanosis
21	ABCA3	HP:0002878	Respiratory failure
21	ABCA3	HP:0002875	Exertional dyspnea
21	ABCA3	HP:0001522	Death in infancy
21	ABCA3	HP:0001508	Failure to thrive
21	ABCA3	HP:0006530	Abnormal pulmonary interstitial morphology
21	ABCA3	HP:0006517	Intraalveolar phospholipid accumulation
21	ABCA3	HP:0001695	Cardiac arrest
21	ABCA3	HP:0001649	Tachycardia
21	ABCA3	HP:0001662	Bradycardia
21	ABCA3	HP:0001622	Premature birth
21	ABCA3	HP:0032980	Absent bronchoalveolar surfactant-protein C
21	ABCA3	HP:0012418	Hypoxemia
22	ABCB7	HP:0002470	Nonprogressive cerebellar ataxia
22	ABCB7	HP:0001252	Hypotonia
22	ABCB7	HP:0001251	Ataxia
22	ABCB7	HP:0001260	Dysarthria
22	ABCB7	HP:0001263	Global developmental delay
22	ABCB7	HP:0001347	Hyperreflexia
22	ABCB7	HP:0001310	Dysmetria
22	ABCB7	HP:0002650	Scoliosis
22	ABCB7	HP:0001419	X-linked recessive inheritance
22	ABCB7	HP:0002080	Intention tremor
22	ABCB7	HP:0002075	Dysdiadochokinesis
22	ABCB7	HP:0003487	Babinski sign
22	ABCB7	HP:0002169	Clonus
22	ABCB7	HP:0002167	Abnormality of speech or vocalization
22	ABCB7	HP:0004840	Hypochromic microcytic anemia
22	ABCB7	HP:0003621	Juvenile onset
22	ABCB7	HP:0000639	Nystagmus
22	ABCB7	HP:0001924	Sideroblastic anemia
22	ABCB7	HP:0001939	Abnormality of metabolism/homeostasis
22	ABCB7	HP:0001903	Anemia
22	ABCB7	HP:0100022	Abnormality of movement
22	ABCB7	HP:0001511	Intrauterine growth retardation
22	ABCB7	HP:0000486	Strabismus
24	ABCA4	HP:0001133	Constriction of peripheral visual field
24	ABCA4	HP:0001249	Intellectual disability
24	ABCA4	HP:0008736	Hypoplasia of penis
24	ABCA4	HP:0001347	Hyperreflexia
24	ABCA4	HP:0000035	Abnormal testis morphology
24	ABCA4	HP:0000007	Autosomal recessive inheritance
24	ABCA4	HP:0000006	Autosomal dominant inheritance
24	ABCA4	HP:0000135	Hypogonadism
24	ABCA4	HP:0007675	Progressive night blindness
24	ABCA4	HP:0007663	Reduced visual acuity
24	ABCA4	HP:0005978	Type II diabetes mellitus
24	ABCA4	HP:0003621	Juvenile onset
24	ABCA4	HP:0030500	Yellow/white lesions of the macula
24	ABCA4	HP:0000639	Nystagmus
24	ABCA4	HP:0000649	Abnormality of visual evoked potentials
24	ABCA4	HP:0000648	Optic atrophy
24	ABCA4	HP:0000618	Blindness
24	ABCA4	HP:0000613	Photophobia
24	ABCA4	HP:0000610	Abnormal choroid morphology
24	ABCA4	HP:0000608	Macular degeneration
24	ABCA4	HP:0000602	Ophthalmoplegia
24	ABCA4	HP:0000603	Central scotoma
24	ABCA4	HP:0000662	Nyctalopia
24	ABCA4	HP:0011463	Childhood onset
24	ABCA4	HP:0011462	Young adult onset
24	ABCA4	HP:0011504	Bull's eye maculopathy
24	ABCA4	HP:0000842	Hyperinsulinemia
24	ABCA4	HP:0008002	Abnormality of macular pigmentation
24	ABCA4	HP:0000987	Atypical scarring of skin
24	ABCA4	HP:0008059	Aplasia/Hypoplasia of the macula
24	ABCA4	HP:0008046	Abnormal retinal vascular morphology
24	ABCA4	HP:0008035	Retinitis pigmentosa inversa
24	ABCA4	HP:0007722	Retinal pigment epithelial atrophy
24	ABCA4	HP:0007703	Abnormality of retinal pigmentation
24	ABCA4	HP:0007704	Paroxysmal involuntary eye movements
24	ABCA4	HP:0007737	Bone spicule pigmentation of the retina
24	ABCA4	HP:0001513	Obesity
24	ABCA4	HP:0007843	Attenuation of retinal blood vessels
24	ABCA4	HP:0007814	Retinal pigment epithelial mottling
24	ABCA4	HP:0030329	Retinal thinning
24	ABCA4	HP:0007994	Peripheral visual field loss
24	ABCA4	HP:0007984	Electronegative electroretinogram
24	ABCA4	HP:0000407	Sensorineural hearing impairment
24	ABCA4	HP:0000405	Conductive hearing impairment
24	ABCA4	HP:0000493	Abnormal foveal morphology
24	ABCA4	HP:0000463	Anteverted nares
24	ABCA4	HP:0000431	Wide nasal bridge
24	ABCA4	HP:0000518	Cataract
24	ABCA4	HP:0000510	Rod-cone dystrophy
24	ABCA4	HP:0000512	Abnormal electroretinogram
24	ABCA4	HP:0000505	Visual impairment
24	ABCA4	HP:0000501	Glaucoma
24	ABCA4	HP:0000580	Pigmentary retinopathy
24	ABCA4	HP:0000563	Keratoconus
24	ABCA4	HP:0000572	Visual loss
24	ABCA4	HP:0000551	Color vision defect
24	ABCA4	HP:0000548	Cone/cone-rod dystrophy
24	ABCA4	HP:0000543	Optic disc pallor
25	ABL1	HP:0001166	Arachnodactyly
25	ABL1	HP:0001263	Global developmental delay
25	ABL1	HP:0002566	Intestinal malrotation
25	ABL1	HP:0001382	Joint hypermobility
25	ABL1	HP:0000047	Hypospadias
25	ABL1	HP:0000028	Cryptorchidism
25	ABL1	HP:0000006	Autosomal dominant inheritance
25	ABL1	HP:0002650	Scoliosis
25	ABL1	HP:0002616	Aortic root aneurysm
25	ABL1	HP:0001428	Somatic mutation
25	ABL1	HP:0002714	Downturned corners of mouth
25	ABL1	HP:0002023	Anal atresia
25	ABL1	HP:0002010	Narrow maxilla
25	ABL1	HP:0002007	Frontal bossing
25	ABL1	HP:0003577	Congenital onset
25	ABL1	HP:0004852	Reduced leukocyte alkaline phosphatase
25	ABL1	HP:0004848	Ph-positive acute lymphoblastic leukemia
25	ABL1	HP:0010747	Medial flaring of the eyebrow
25	ABL1	HP:0004209	Clinodactyly of the 5th finger
25	ABL1	HP:0005506	Chronic myelogenous leukemia
25	ABL1	HP:0005547	Myeloproliferative disorder
25	ABL1	HP:0001974	Leukocytosis
25	ABL1	HP:0001945	Fever
25	ABL1	HP:0001911	Abnormal granulocyte morphology
25	ABL1	HP:0001912	Abnormal basophil morphology
25	ABL1	HP:0000678	Dental crowding
25	ABL1	HP:0000670	Carious teeth
25	ABL1	HP:0004322	Short stature
25	ABL1	HP:0004396	Poor appetite
25	ABL1	HP:0000767	Pectus excavatum
25	ABL1	HP:0000776	Congenital diaphragmatic hernia
25	ABL1	HP:0003196	Short nose
25	ABL1	HP:0003189	Long nose
25	ABL1	HP:0000977	Soft skin
25	ABL1	HP:0000965	Cutis marmorata
25	ABL1	HP:0000963	Thin skin
25	ABL1	HP:0002808	Kyphosis
25	ABL1	HP:0000218	High palate
25	ABL1	HP:0000233	Thin vermilion border
25	ABL1	HP:0001508	Failure to thrive
25	ABL1	HP:0001511	Intrauterine growth retardation
25	ABL1	HP:0012378	Fatigue
25	ABL1	HP:0012385	Camptodactyly
25	ABL1	HP:0006522	Repeated pneumothoraces
25	ABL1	HP:0000341	Narrow forehead
25	ABL1	HP:0000337	Broad forehead
25	ABL1	HP:0001680	Coarctation of aorta
25	ABL1	HP:0000319	Smooth philtrum
25	ABL1	HP:0000331	Short chin
25	ABL1	HP:0001629	Ventricular septal defect
25	ABL1	HP:0000307	Pointed chin
25	ABL1	HP:0001631	Atrial septal defect
25	ABL1	HP:0000490	Deeply set eye
25	ABL1	HP:0000460	Narrow nose
25	ABL1	HP:0012450	Chronic constipation
25	ABL1	HP:0001763	Pes planus
25	ABL1	HP:0001744	Splenomegaly
25	ABL1	HP:0001852	Sandal gap
25	ABL1	HP:0000582	Upslanted palpebral fissure
25	ABL1	HP:0001894	Thrombocytosis
25	ABL1	HP:0001871	Abnormality of blood and blood-forming tissues
25	ABL1	HP:0001873	Thrombocytopenia
31	ACACA	HP:0001290	Generalized hypotonia
31	ACACA	HP:0001252	Hypotonia
31	ACACA	HP:0000007	Autosomal recessive inheritance
31	ACACA	HP:0003198	Myopathy
31	ACACA	HP:0001510	Growth delay
34	ACADM	HP:0003738	Exercise-induced myalgia
34	ACADM	HP:0003701	Proximal muscle weakness
34	ACADM	HP:0001290	Generalized hypotonia
34	ACADM	HP:0001254	Lethargy
34	ACADM	HP:0001250	Seizure
34	ACADM	HP:0001252	Hypotonia
34	ACADM	HP:0001251	Ataxia
34	ACADM	HP:0001263	Global developmental delay
34	ACADM	HP:0001259	Coma
34	ACADM	HP:0001397	Hepatic steatosis
34	ACADM	HP:0000007	Autosomal recessive inheritance
34	ACADM	HP:0001315	Reduced tendon reflexes
34	ACADM	HP:0001410	Decreased liver function
34	ACADM	HP:0002014	Diarrhea
34	ACADM	HP:0002013	Vomiting
34	ACADM	HP:0002069	Bilateral tonic-clonic seizure
34	ACADM	HP:0003394	Muscle spasm
34	ACADM	HP:0003473	Fatigable weakness
34	ACADM	HP:0011936	Decreased plasma total carnitine
34	ACADM	HP:0002181	Cerebral edema
34	ACADM	HP:0002240	Hepatomegaly
34	ACADM	HP:0008309	Medium chain dicarboxylic aciduria
34	ACADM	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
34	ACADM	HP:0007185	Loss of consciousness
34	ACADM	HP:0001943	Hypoglycemia
34	ACADM	HP:0001946	Ketosis
34	ACADM	HP:0001942	Metabolic acidosis
34	ACADM	HP:0001987	Hyperammonemia
34	ACADM	HP:0004326	Cachexia
34	ACADM	HP:0005684	Distal arthrogryposis
34	ACADM	HP:0000750	Delayed speech and language development
34	ACADM	HP:0003108	Hyperglycinuria
34	ACADM	HP:0003198	Myopathy
34	ACADM	HP:0003236	Elevated circulating creatine kinase concentration
34	ACADM	HP:0003234	Decreased plasma carnitine
34	ACADM	HP:0003215	Dicarboxylic aciduria
34	ACADM	HP:0003202	Skeletal muscle atrophy
34	ACADM	HP:0045040	Abnormal lactate dehydrogenase level
34	ACADM	HP:0040155	Elevated urinary 3-hydroxybutyric acid
34	ACADM	HP:0011675	Arrhythmia
34	ACADM	HP:0000256	Macrocephaly
34	ACADM	HP:0002875	Exertional dyspnea
34	ACADM	HP:0012378	Fatigue
34	ACADM	HP:0030199	Fatigable weakness of neck muscles
34	ACADM	HP:0002910	Elevated hepatic transaminase
34	ACADM	HP:0001640	Cardiomegaly
35	ACADS	HP:0410153	Increased level of methylsuccinic acid in urine
35	ACADS	HP:0007256	Abnormal pyramidal sign
35	ACADS	HP:0001276	Hypertonia
35	ACADS	HP:0001254	Lethargy
35	ACADS	HP:0001250	Seizure
35	ACADS	HP:0001252	Hypotonia
35	ACADS	HP:0001251	Ataxia
35	ACADS	HP:0001263	Global developmental delay
35	ACADS	HP:0002500	Abnormal cerebral white matter morphology
35	ACADS	HP:0001397	Hepatic steatosis
35	ACADS	HP:0001371	Flexion contracture
35	ACADS	HP:0001332	Dystonia
35	ACADS	HP:0000007	Autosomal recessive inheritance
35	ACADS	HP:0002650	Scoliosis
35	ACADS	HP:0008947	Infantile muscular hypotonia
35	ACADS	HP:0002098	Respiratory distress
35	ACADS	HP:0003593	Infantile onset
35	ACADS	HP:0011968	Feeding difficulties
35	ACADS	HP:0010695	Sutural cataract
35	ACADS	HP:0003623	Neonatal onset
35	ACADS	HP:0004911	Episodic metabolic acidosis
35	ACADS	HP:0000648	Optic atrophy
35	ACADS	HP:0001942	Metabolic acidosis
35	ACADS	HP:0001999	Abnormal facial shape
35	ACADS	HP:0006929	Hypoglycemic encephalopathy
35	ACADS	HP:0012734	Ketotic hypoglycemia
35	ACADS	HP:0000750	Delayed speech and language development
35	ACADS	HP:0000709	Psychosis
35	ACADS	HP:0000708	Atypical behavior
35	ACADS	HP:0011463	Childhood onset
35	ACADS	HP:0012758	Neurodevelopmental delay
35	ACADS	HP:0003198	Myopathy
35	ACADS	HP:0003219	Ethylmalonic aciduria
35	ACADS	HP:0045045	Elevated circulating acylcarnitine concentration
35	ACADS	HP:0000252	Microcephaly
35	ACADS	HP:0001508	Failure to thrive
35	ACADS	HP:0001511	Intrauterine growth retardation
35	ACADS	HP:0001638	Cardiomyopathy
35	ACADS	HP:0030319	Weakness of facial musculature
35	ACADS	HP:0000544	External ophthalmoplegia
36	ACADSB	HP:0003700	Generalized amyotrophy
36	ACADSB	HP:0001270	Motor delay
36	ACADSB	HP:0001254	Lethargy
36	ACADSB	HP:0001250	Seizure
36	ACADSB	HP:0001252	Hypotonia
36	ACADSB	HP:0001263	Global developmental delay
36	ACADSB	HP:0000007	Autosomal recessive inheritance
36	ACADSB	HP:0005949	Apneic episodes in infancy
36	ACADSB	HP:0002045	Hypothermia
36	ACADSB	HP:0033220	2-ethylhydracylic aciduria
36	ACADSB	HP:0003593	Infantile onset
36	ACADSB	HP:0001943	Hypoglycemia
36	ACADSB	HP:0011463	Childhood onset
36	ACADSB	HP:0000252	Microcephaly
36	ACADSB	HP:0000577	Exotropia
37	ACADVL	HP:0003738	Exercise-induced myalgia
37	ACADVL	HP:0001254	Lethargy
37	ACADVL	HP:0001252	Hypotonia
37	ACADVL	HP:0002572	Episodic vomiting
37	ACADVL	HP:0001397	Hepatic steatosis
37	ACADVL	HP:0001324	Muscle weakness
37	ACADVL	HP:0000007	Autosomal recessive inheritance
37	ACADVL	HP:0008947	Infantile muscular hypotonia
37	ACADVL	HP:0002789	Tachypnea
37	ACADVL	HP:0001405	Periportal fibrosis
37	ACADVL	HP:0001404	Hepatocellular necrosis
37	ACADVL	HP:0002020	Gastroesophageal reflux
37	ACADVL	HP:0002013	Vomiting
37	ACADVL	HP:0005943	Respiratory arrest
37	ACADVL	HP:0002098	Respiratory distress
37	ACADVL	HP:0002090	Pneumonia
37	ACADVL	HP:0002069	Bilateral tonic-clonic seizure
37	ACADVL	HP:0003394	Muscle spasm
37	ACADVL	HP:0002045	Hypothermia
37	ACADVL	HP:0033165	Necrotizing enterocolitis
37	ACADVL	HP:0004756	Ventricular tachycardia
37	ACADVL	HP:0003593	Infantile onset
37	ACADVL	HP:0002240	Hepatomegaly
37	ACADVL	HP:0003552	Muscle stiffness
37	ACADVL	HP:0002280	Enlarged cisterna magna
37	ACADVL	HP:0011968	Feeding difficulties
37	ACADVL	HP:0008305	Exercise-induced myoglobinuria
37	ACADVL	HP:0003623	Neonatal onset
37	ACADVL	HP:0001942	Metabolic acidosis
37	ACADVL	HP:0001958	Nonketotic hypoglycemia
37	ACADVL	HP:0009045	Exercise-induced rhabdomyolysis
37	ACADVL	HP:0012664	Reduced left ventricular ejection fraction
37	ACADVL	HP:0001987	Hyperammonemia
37	ACADVL	HP:0001985	Hypoketotic hypoglycemia
37	ACADVL	HP:0003075	Hypoproteinemia
37	ACADVL	HP:0030781	Increased circulating free fatty acid level
37	ACADVL	HP:0003236	Elevated circulating creatine kinase concentration
37	ACADVL	HP:0003234	Decreased plasma carnitine
37	ACADVL	HP:0003215	Dicarboxylic aciduria
37	ACADVL	HP:0000952	Jaundice
37	ACADVL	HP:0011675	Arrhythmia
37	ACADVL	HP:0000256	Macrocephaly
37	ACADVL	HP:0000252	Microcephaly
37	ACADVL	HP:0002876	Episodic tachypnea
37	ACADVL	HP:0001545	Anteriorly placed anus
37	ACADVL	HP:0025502	Overweight
37	ACADVL	HP:0001522	Death in infancy
37	ACADVL	HP:0001518	Small for gestational age
37	ACADVL	HP:0001513	Obesity
37	ACADVL	HP:0002910	Elevated hepatic transaminase
37	ACADVL	HP:0002901	Hypocalcemia
37	ACADVL	HP:0001698	Pericardial effusion
37	ACADVL	HP:0001678	Atrioventricular block
37	ACADVL	HP:0001649	Tachycardia
37	ACADVL	HP:0001645	Sudden cardiac death
37	ACADVL	HP:0001644	Dilated cardiomyopathy
37	ACADVL	HP:0001663	Ventricular fibrillation
37	ACADVL	HP:0001657	Prolonged QT interval
37	ACADVL	HP:0001655	Patent foramen ovale
37	ACADVL	HP:0001629	Ventricular septal defect
37	ACADVL	HP:0001640	Cardiomegaly
37	ACADVL	HP:0001639	Hypertrophic cardiomyopathy
37	ACADVL	HP:0001631	Atrial septal defect
37	ACADVL	HP:0011123	Inflammatory abnormality of the skin
37	ACADVL	HP:0012531	Pain
38	ACAT1	HP:0007308	Extrapyramidal dyskinesia
38	ACAT1	HP:0010864	Intellectual disability, severe
38	ACAT1	HP:0001270	Motor delay
38	ACAT1	HP:0001256	Intellectual disability, mild
38	ACAT1	HP:0001250	Seizure
38	ACAT1	HP:0001252	Hypotonia
38	ACAT1	HP:0001251	Ataxia
38	ACAT1	HP:0001249	Intellectual disability
38	ACAT1	HP:0001265	Hyporeflexia
38	ACAT1	HP:0001262	Excessive daytime somnolence
38	ACAT1	HP:0001257	Spasticity
38	ACAT1	HP:0001259	Coma
38	ACAT1	HP:0000007	Autosomal recessive inheritance
38	ACAT1	HP:0002615	Hypotension
38	ACAT1	HP:0002789	Tachypnea
38	ACAT1	HP:0500001	Body odor
38	ACAT1	HP:0002014	Diarrhea
38	ACAT1	HP:0002013	Vomiting
38	ACAT1	HP:0005974	Episodic ketoacidosis
38	ACAT1	HP:0002039	Anorexia
38	ACAT1	HP:0002151	Increased serum lactate
38	ACAT1	HP:0002149	Hyperuricemia
38	ACAT1	HP:0002240	Hepatomegaly
38	ACAT1	HP:0001974	Leukocytosis
38	ACAT1	HP:0001944	Dehydration
38	ACAT1	HP:0001943	Hypoglycemia
38	ACAT1	HP:0001945	Fever
38	ACAT1	HP:0001942	Metabolic acidosis
38	ACAT1	HP:0001941	Acidosis
38	ACAT1	HP:0001993	Ketoacidosis
38	ACAT1	HP:0001987	Hyperammonemia
38	ACAT1	HP:0003074	Hyperglycemia
38	ACAT1	HP:0004372	Reduced consciousness/confusion
38	ACAT1	HP:0012735	Cough
38	ACAT1	HP:0000741	Apathy
38	ACAT1	HP:0012705	Abnormal metabolic brain imaging by MRS
38	ACAT1	HP:0000713	Agitation
38	ACAT1	HP:0011446	Abnormality of higher mental function
38	ACAT1	HP:0000822	Hypertension
38	ACAT1	HP:0000980	Pallor
38	ACAT1	HP:0000969	Edema
38	ACAT1	HP:0002919	Ketonuria
38	ACAT1	HP:0001824	Weight loss
38	ACAT1	HP:0001894	Thrombocytosis
38	ACAT1	HP:0012523	Oral aversion
39	ACAT2	HP:0003745	Sporadic
39	ACAT2	HP:0001290	Generalized hypotonia
39	ACAT2	HP:0001252	Hypotonia
39	ACAT2	HP:0001263	Global developmental delay
39	ACAT2	HP:0002072	Chorea
39	ACAT2	HP:0002151	Increased serum lactate
39	ACAT2	HP:0003542	Increased serum pyruvate
50	ACO2	HP:0010864	Intellectual disability, severe
50	ACO2	HP:0001272	Cerebellar atrophy
50	ACO2	HP:0001284	Areflexia
50	ACO2	HP:0001252	Hypotonia
50	ACO2	HP:0001251	Ataxia
50	ACO2	HP:0001265	Hyporeflexia
50	ACO2	HP:0007359	Focal-onset seizure
50	ACO2	HP:0002500	Abnormal cerebral white matter morphology
50	ACO2	HP:0000007	Autosomal recessive inheritance
50	ACO2	HP:0007663	Reduced visual acuity
50	ACO2	HP:0002069	Bilateral tonic-clonic seizure
50	ACO2	HP:0002079	Hypoplasia of the corpus callosum
50	ACO2	HP:0002120	Cerebral cortical atrophy
50	ACO2	HP:0003593	Infantile onset
50	ACO2	HP:0007108	Demyelinating peripheral neuropathy
50	ACO2	HP:0002305	Athetosis
50	ACO2	HP:0003621	Juvenile onset
50	ACO2	HP:0030528	Paracentral scotoma
50	ACO2	HP:0000639	Nystagmus
50	ACO2	HP:0000648	Optic atrophy
50	ACO2	HP:0000642	Red-green dyschromatopsia
50	ACO2	HP:0011344	Severe global developmental delay
50	ACO2	HP:0004325	Decreased body weight
50	ACO2	HP:0011463	Childhood onset
50	ACO2	HP:0000253	Progressive microcephaly
50	ACO2	HP:0000252	Microcephaly
50	ACO2	HP:0001508	Failure to thrive
50	ACO2	HP:0000407	Sensorineural hearing impairment
50	ACO2	HP:0000486	Strabismus
50	ACO2	HP:0000505	Visual impairment
50	ACO2	HP:0000556	Retinal dystrophy
50	ACO2	HP:0000543	Optic disc pallor
51	ACOX1	HP:0001161	Hand polydactyly
51	ACOX1	HP:0007305	CNS demyelination
51	ACOX1	HP:0008619	Bilateral sensorineural hearing impairment
51	ACOX1	HP:0010864	Intellectual disability, severe
51	ACOX1	HP:0002415	Leukodystrophy
51	ACOX1	HP:0001298	Encephalopathy
51	ACOX1	HP:0001276	Hypertonia
51	ACOX1	HP:0001288	Gait disturbance
51	ACOX1	HP:0001250	Seizure
51	ACOX1	HP:0001252	Hypotonia
51	ACOX1	HP:0001263	Global developmental delay
51	ACOX1	HP:0008763	No social interaction
51	ACOX1	HP:0002522	Areflexia of lower limbs
51	ACOX1	HP:0002500	Abnormal cerebral white matter morphology
51	ACOX1	HP:0001347	Hyperreflexia
51	ACOX1	HP:0001332	Dystonia
51	ACOX1	HP:0001344	Absent speech
51	ACOX1	HP:0000007	Autosomal recessive inheritance
51	ACOX1	HP:0000006	Autosomal dominant inheritance
51	ACOX1	HP:0001319	Neonatal hypotonia
51	ACOX1	HP:0002747	Respiratory insufficiency due to muscle weakness
51	ACOX1	HP:0002015	Dysphagia
51	ACOX1	HP:0002007	Frontal bossing
51	ACOX1	HP:0002093	Respiratory insufficiency
51	ACOX1	HP:0003390	Sensory axonal neuropathy
51	ACOX1	HP:0008167	Very long chain fatty acid accumulation
51	ACOX1	HP:0003487	Babinski sign
51	ACOX1	HP:0002167	Abnormality of speech or vocalization
51	ACOX1	HP:0003593	Infantile onset
51	ACOX1	HP:0002240	Hepatomegaly
51	ACOX1	HP:0003690	Limb muscle weakness
51	ACOX1	HP:0002376	Developmental regression
51	ACOX1	HP:0002355	Difficulty walking
51	ACOX1	HP:0002353	EEG abnormality
51	ACOX1	HP:0002312	Clumsiness
51	ACOX1	HP:0006887	Intellectual disability, progressive
51	ACOX1	HP:0000639	Nystagmus
51	ACOX1	HP:0000649	Abnormality of visual evoked potentials
51	ACOX1	HP:0000648	Optic atrophy
51	ACOX1	HP:0001939	Abnormality of metabolism/homeostasis
51	ACOX1	HP:0011344	Severe global developmental delay
51	ACOX1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
51	ACOX1	HP:0012639	Abnormal nervous system morphology
51	ACOX1	HP:0000668	Hypodontia
51	ACOX1	HP:0000737	Irritability
51	ACOX1	HP:0003186	Inverted nipples
51	ACOX1	HP:0000286	Epicanthus
51	ACOX1	HP:0000248	Brachycephaly
51	ACOX1	HP:0001522	Death in infancy
51	ACOX1	HP:0001508	Failure to thrive
51	ACOX1	HP:0012391	Hyporeflexia of upper limbs
51	ACOX1	HP:0006555	Diffuse hepatic steatosis
51	ACOX1	HP:0002910	Elevated hepatic transaminase
51	ACOX1	HP:0000369	Low-set ears
51	ACOX1	HP:0012332	Abnormal autonomic nervous system physiology
51	ACOX1	HP:0000316	Hypertelorism
51	ACOX1	HP:0000407	Sensorineural hearing impairment
51	ACOX1	HP:0005280	Depressed nasal bridge
51	ACOX1	HP:0000486	Strabismus
51	ACOX1	HP:0000431	Wide nasal bridge
51	ACOX1	HP:0000510	Rod-cone dystrophy
51	ACOX1	HP:0000512	Abnormal electroretinogram
51	ACOX1	HP:0000580	Pigmentary retinopathy
51	ACOX1	HP:0000545	Myopia
54	ACP5	HP:0002478	Progressive spastic quadriplegia
54	ACP5	HP:0032252	Granuloma
54	ACP5	HP:0009882	Short distal phalanx of finger
54	ACP5	HP:0001270	Motor delay
54	ACP5	HP:0001256	Intellectual disability, mild
54	ACP5	HP:0001250	Seizure
54	ACP5	HP:0001249	Intellectual disability
54	ACP5	HP:0001264	Spastic diplegia
54	ACP5	HP:0001263	Global developmental delay
54	ACP5	HP:0001257	Spasticity
54	ACP5	HP:0410263	Brain imaging abnormality
54	ACP5	HP:0100866	Short iliac bones
54	ACP5	HP:0002518	Abnormal periventricular white matter morphology
54	ACP5	HP:0002514	Cerebral calcification
54	ACP5	HP:0000093	Proteinuria
54	ACP5	HP:0001370	Rheumatoid arthritis
54	ACP5	HP:0001369	Arthritis
54	ACP5	HP:0001386	Joint swelling
54	ACP5	HP:0002694	Sclerosis of skull base
54	ACP5	HP:0007526	Hypopigmented skin patches on arms
54	ACP5	HP:0002657	Spondylometaphyseal dysplasia
54	ACP5	HP:0000007	Autosomal recessive inheritance
54	ACP5	HP:0002633	Vasculitis
54	ACP5	HP:0002650	Scoliosis
54	ACP5	HP:0012115	Hepatitis
54	ACP5	HP:0002751	Kyphoscoliosis
54	ACP5	HP:0002719	Recurrent infections
54	ACP5	HP:0002716	Lymphadenopathy
54	ACP5	HP:0002725	Systemic lupus erythematosus
54	ACP5	HP:0003326	Myalgia
54	ACP5	HP:0002007	Frontal bossing
54	ACP5	HP:0003301	Irregular vertebral endplates
54	ACP5	HP:0011800	Midface retrusion
54	ACP5	HP:0002090	Pneumonia
54	ACP5	HP:0002091	Restrictive ventilatory defect
54	ACP5	HP:0002072	Chorea
54	ACP5	HP:0002119	Ventriculomegaly
54	ACP5	HP:0003493	Antinuclear antibody positivity
54	ACP5	HP:0003577	Congenital onset
54	ACP5	HP:0002205	Recurrent respiratory infections
54	ACP5	HP:0003521	Disproportionate short-trunk short stature
54	ACP5	HP:0001034	Hypermelanotic macule
54	ACP5	HP:0001045	Vitiligo
54	ACP5	HP:0004979	Metaphyseal sclerosis
54	ACP5	HP:0002315	Headache
54	ACP5	HP:0009826	Limb undergrowth
54	ACP5	HP:0003621	Juvenile onset
54	ACP5	HP:0020151	Anti-dsDNA antibody positivity
54	ACP5	HP:0005576	Tubulointerstitial fibrosis
54	ACP5	HP:0012622	Chronic kidney disease
54	ACP5	HP:0001973	Autoimmune thrombocytopenia
54	ACP5	HP:0000684	Delayed eruption of teeth
54	ACP5	HP:0000689	Dental malocclusion
54	ACP5	HP:0004322	Short stature
54	ACP5	HP:0003016	Metaphyseal widening
54	ACP5	HP:0003025	Metaphyseal irregularity
54	ACP5	HP:0005681	Juvenile rheumatoid arthritis
54	ACP5	HP:0000768	Pectus carinatum
54	ACP5	HP:0000707	Abnormality of the nervous system
54	ACP5	HP:0011463	Childhood onset
54	ACP5	HP:0000790	Hematuria
54	ACP5	HP:0000926	Platyspondyly
54	ACP5	HP:0000822	Hypertension
54	ACP5	HP:0000821	Hypothyroidism
54	ACP5	HP:0000824	Decreased response to growth hormone stimulation test
54	ACP5	HP:0030880	Raynaud phenomenon
54	ACP5	HP:0100255	Metaphyseal dysplasia
54	ACP5	HP:0000979	Purpura
54	ACP5	HP:0000988	Skin rash
54	ACP5	HP:0000946	Hypoplastic ilia
54	ACP5	HP:0000262	Turricephaly
54	ACP5	HP:0002808	Kyphosis
54	ACP5	HP:0001552	Barrel-shaped chest
54	ACP5	HP:0030038	Enchondroma
54	ACP5	HP:0030047	Abnormal lateral ventricle morphology
54	ACP5	HP:0002938	Lumbar hyperlordosis
54	ACP5	HP:0000369	Low-set ears
54	ACP5	HP:0002979	Bowing of the legs
54	ACP5	HP:0002960	Autoimmunity
54	ACP5	HP:0002958	Immune dysregulation
54	ACP5	HP:0030320	Increased intervertebral space
54	ACP5	HP:0005374	Cellular immunodeficiency
54	ACP5	HP:0005387	Combined immunodeficiency
54	ACP5	HP:0000403	Recurrent otitis media
54	ACP5	HP:0000460	Narrow nose
54	ACP5	HP:0011108	Recurrent sinusitis
54	ACP5	HP:0005403	T lymphocytopenia
54	ACP5	HP:0001890	Autoimmune hemolytic anemia
54	ACP5	HP:0001888	Lymphopenia
54	ACP5	HP:0012514	Lower limb pain
54	ACP5	HP:0001876	Pancytopenia
54	ACP5	HP:0001875	Neutropenia
58	ACTA1	HP:0001181	Adducted thumb
58	ACTA1	HP:0002483	Bulbar signs
58	ACTA1	HP:0002460	Distal muscle weakness
58	ACTA1	HP:0003798	Nemaline bodies
58	ACTA1	HP:0002421	Poor head control
58	ACTA1	HP:0003749	Pelvic girdle muscle weakness
58	ACTA1	HP:0003722	Neck flexor weakness
58	ACTA1	HP:0003736	Autophagic vacuoles
58	ACTA1	HP:0003701	Proximal muscle weakness
58	ACTA1	HP:0003715	Myofibrillar myopathy
58	ACTA1	HP:0003713	Muscle fiber necrosis
58	ACTA1	HP:0001290	Generalized hypotonia
58	ACTA1	HP:0001276	Hypertonia
58	ACTA1	HP:0001270	Motor delay
58	ACTA1	HP:0001288	Gait disturbance
58	ACTA1	HP:0001283	Bulbar palsy
58	ACTA1	HP:0001284	Areflexia
58	ACTA1	HP:0001252	Hypotonia
58	ACTA1	HP:0001265	Hyporeflexia
58	ACTA1	HP:0001263	Global developmental delay
58	ACTA1	HP:0002515	Waddling gait
58	ACTA1	HP:0003805	Rimmed vacuoles
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance
58	ACTA1	HP:0003810	Late-onset distal muscle weakness
58	ACTA1	HP:0001374	Congenital hip dislocation
58	ACTA1	HP:0001371	Flexion contracture
58	ACTA1	HP:0000054	Micropenis
58	ACTA1	HP:0000047	Hypospadias
58	ACTA1	HP:0001349	Facial diplegia
58	ACTA1	HP:0001347	Hyperreflexia
58	ACTA1	HP:0008872	Feeding difficulties in infancy
58	ACTA1	HP:0007514	Edema of the dorsum of hands
58	ACTA1	HP:0031189	Wrist drop
58	ACTA1	HP:0000007	Autosomal recessive inheritance
58	ACTA1	HP:0000006	Autosomal dominant inheritance
58	ACTA1	HP:0002650	Scoliosis
58	ACTA1	HP:0001319	Neonatal hypotonia
58	ACTA1	HP:0001315	Reduced tendon reflexes
58	ACTA1	HP:0002705	High, narrow palate
58	ACTA1	HP:0002792	Reduced vital capacity
58	ACTA1	HP:0002751	Kyphoscoliosis
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness
58	ACTA1	HP:0003327	Axial muscle weakness
58	ACTA1	HP:0003325	Limb-girdle muscle weakness
58	ACTA1	HP:0002015	Dysphagia
58	ACTA1	HP:0003307	Hyperlordosis
58	ACTA1	HP:0003306	Spinal rigidity
58	ACTA1	HP:0003323	Progressive muscle weakness
58	ACTA1	HP:0003324	Generalized muscle weakness
58	ACTA1	HP:0011807	Type 1 muscle fiber atrophy
58	ACTA1	HP:0002089	Pulmonary hypoplasia
58	ACTA1	HP:0002086	Abnormality of the respiratory system
58	ACTA1	HP:0002093	Respiratory insufficiency
58	ACTA1	HP:0002090	Pneumonia
58	ACTA1	HP:0002067	Bradykinesia
58	ACTA1	HP:0002068	Neuromuscular dysphagia
58	ACTA1	HP:0002063	Rigidity
58	ACTA1	HP:0003391	Gowers sign
58	ACTA1	HP:0002058	Myopathic facies
58	ACTA1	HP:0003388	Easy fatigability
58	ACTA1	HP:0008180	Mildly elevated creatine kinase
58	ACTA1	HP:0003458	EMG: myopathic abnormalities
58	ACTA1	HP:0003445	EMG: neuropathic changes
58	ACTA1	HP:0011842	Abnormal skeletal morphology
58	ACTA1	HP:0003593	Infantile onset
58	ACTA1	HP:0003555	Muscle fiber splitting
58	ACTA1	HP:0003552	Muscle stiffness
58	ACTA1	HP:0003551	Difficulty climbing stairs
58	ACTA1	HP:0003547	Shoulder girdle muscle weakness
58	ACTA1	HP:0004878	Intercostal muscle weakness
58	ACTA1	HP:0003546	Exercise intolerance
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter
58	ACTA1	HP:0002205	Recurrent respiratory infections
58	ACTA1	HP:0007010	Poor fine motor coordination
58	ACTA1	HP:0011968	Feeding difficulties
58	ACTA1	HP:0010628	Facial palsy
58	ACTA1	HP:0011951	Aspiration pneumonia
58	ACTA1	HP:0002360	Sleep disturbance
58	ACTA1	HP:0003691	Scapular winging
58	ACTA1	HP:0003690	Limb muscle weakness
58	ACTA1	HP:0002359	Frequent falls
58	ACTA1	HP:0002375	Hypokinesia
58	ACTA1	HP:0002355	Difficulty walking
58	ACTA1	HP:0003687	Centrally nucleated skeletal muscle fibers
58	ACTA1	HP:0003677	Slowly progressive
58	ACTA1	HP:0002315	Headache
58	ACTA1	HP:0002312	Clumsiness
58	ACTA1	HP:0006829	Severe muscular hypotonia
58	ACTA1	HP:0000602	Ophthalmoplegia
58	ACTA1	HP:0009055	Generalized limb muscle atrophy
58	ACTA1	HP:0009058	Increased muscle lipid content
58	ACTA1	HP:0009025	Increased connective tissue
58	ACTA1	HP:0009027	Foot dorsiflexor weakness
58	ACTA1	HP:0000678	Dental crowding
58	ACTA1	HP:0009004	Hypoplasia of the musculature
58	ACTA1	HP:0001989	Fetal akinesia sequence
58	ACTA1	HP:0003089	Hamstring contractures
58	ACTA1	HP:0004396	Poor appetite
58	ACTA1	HP:0004347	Weakness of muscles of respiration
58	ACTA1	HP:0000767	Pectus excavatum
58	ACTA1	HP:0000765	Abnormal thorax morphology
58	ACTA1	HP:0011470	Nasogastric tube feeding in infancy
58	ACTA1	HP:0012785	Flexion contracture of finger
58	ACTA1	HP:0011462	Young adult onset
58	ACTA1	HP:0009130	Hand muscle atrophy
58	ACTA1	HP:0000774	Narrow chest
58	ACTA1	HP:0000775	Abnormality of the diaphragm
58	ACTA1	HP:0003198	Myopathy
58	ACTA1	HP:0000883	Thin ribs
58	ACTA1	HP:0012899	Handgrip myotonia
58	ACTA1	HP:0003236	Elevated circulating creatine kinase concentration
58	ACTA1	HP:0030878	Abnormality on pulmonary function testing
58	ACTA1	HP:0003202	Skeletal muscle atrophy
58	ACTA1	HP:0005855	Multiple prenatal fractures
58	ACTA1	HP:0003273	Hip contracture
58	ACTA1	HP:0000278	Retrognathia
58	ACTA1	HP:0000298	Mask-like facies
58	ACTA1	HP:0000275	Narrow face
58	ACTA1	HP:0000276	Long face
58	ACTA1	HP:0006466	Ankle flexion contracture
58	ACTA1	HP:0002827	Hip dislocation
58	ACTA1	HP:0002808	Kyphosis
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita
58	ACTA1	HP:0006380	Knee flexion contracture
58	ACTA1	HP:0000239	Large fontanelles
58	ACTA1	HP:0002878	Respiratory failure
58	ACTA1	HP:0000218	High palate
58	ACTA1	HP:0002877	Nocturnal hypoventilation
58	ACTA1	HP:0001561	Polyhydramnios
58	ACTA1	HP:0001558	Decreased fetal movement
58	ACTA1	HP:0002857	Genu valgum
58	ACTA1	HP:0001533	Slender build
58	ACTA1	HP:0001508	Failure to thrive
58	ACTA1	HP:0012378	Fatigue
58	ACTA1	HP:0030200	Fatiguable weakness of proximal limb muscles
58	ACTA1	HP:0005216	Impaired mastication
58	ACTA1	HP:0001609	Hoarse voice
58	ACTA1	HP:0030196	Fatigable weakness of respiratory muscles
58	ACTA1	HP:0030192	Fatigable weakness of bulbar muscles
58	ACTA1	HP:0030198	Fatigable weakness of distal limb muscles
58	ACTA1	HP:0000369	Low-set ears
58	ACTA1	HP:0000343	Long philtrum
58	ACTA1	HP:0000347	Micrognathia
58	ACTA1	HP:0000316	Hypertelorism
58	ACTA1	HP:0001648	Cor pulmonale
58	ACTA1	HP:0001644	Dilated cardiomyopathy
58	ACTA1	HP:0002987	Elbow flexion contracture
58	ACTA1	HP:0001627	Abnormal heart morphology
58	ACTA1	HP:0001623	Breech presentation
58	ACTA1	HP:0001622	Premature birth
58	ACTA1	HP:0002970	Genu varum
58	ACTA1	HP:0001638	Cardiomyopathy
58	ACTA1	HP:0030319	Weakness of facial musculature
58	ACTA1	HP:0031546	Cardiac conduction abnormality
58	ACTA1	HP:0000473	Torticollis
58	ACTA1	HP:0000470	Short neck
58	ACTA1	HP:0000467	Neck muscle weakness
58	ACTA1	HP:0001771	Achilles tendon contracture
58	ACTA1	HP:0012416	Hypercapnia
58	ACTA1	HP:0012418	Hypoxemia
58	ACTA1	HP:0001762	Talipes equinovarus
58	ACTA1	HP:0001761	Pes cavus
58	ACTA1	HP:0006785	Limb-girdle muscular dystrophy
58	ACTA1	HP:0001824	Weight loss
58	ACTA1	HP:0000508	Ptosis
59	ACTA2	HP:0001166	Arachnodactyly
59	ACTA2	HP:0033505	Livedo reticularis
59	ACTA2	HP:0001297	Stroke
59	ACTA2	HP:0001250	Seizure
59	ACTA2	HP:0001249	Intellectual disability
59	ACTA2	HP:0002566	Intestinal malrotation
59	ACTA2	HP:0000098	Tall stature
59	ACTA2	HP:0002686	Prenatal maternal abnormality
59	ACTA2	HP:0000023	Inguinal hernia
59	ACTA2	HP:0000028	Cryptorchidism
59	ACTA2	HP:0000006	Autosomal dominant inheritance
59	ACTA2	HP:0002650	Scoliosis
59	ACTA2	HP:0002647	Aortic dissection
59	ACTA2	HP:0002616	Aortic root aneurysm
59	ACTA2	HP:0002617	Vascular dilatation
59	ACTA2	HP:0012163	Carotid artery dilatation
59	ACTA2	HP:0002705	High, narrow palate
59	ACTA2	HP:0002789	Tachypnea
59	ACTA2	HP:0500007	Iris flocculi
59	ACTA2	HP:0031252	Dilated left subclavian artery
59	ACTA2	HP:0002092	Pulmonary arterial hypertension
59	ACTA2	HP:0002140	Ischemic stroke
59	ACTA2	HP:0002138	Subarachnoid hemorrhage
59	ACTA2	HP:0002119	Ventriculomegaly
59	ACTA2	HP:0002107	Pneumothorax
59	ACTA2	HP:0002105	Hemoptysis
59	ACTA2	HP:0011834	Moyamoya phenomenon
59	ACTA2	HP:0003577	Congenital onset
59	ACTA2	HP:0003549	Abnormality of connective tissue
59	ACTA2	HP:0100771	Hypoperistalsis
59	ACTA2	HP:0200146	Mucoid extracellular matrix accumulation
59	ACTA2	HP:0100775	Dural ectasia
59	ACTA2	HP:0100749	Chest pain
59	ACTA2	HP:0001009	Telangiectasia
59	ACTA2	HP:0002326	Transient ischemic attack
59	ACTA2	HP:0100659	Abnormal cerebral vascular morphology
59	ACTA2	HP:0004959	Descending thoracic aorta aneurysm
59	ACTA2	HP:0004970	Ascending tubular aorta aneurysm
59	ACTA2	HP:0004933	Ascending aortic dissection
59	ACTA2	HP:0004950	Peripheral arterial stenosis
59	ACTA2	HP:0004944	Dilatation of the cerebral artery
59	ACTA2	HP:0004942	Aortic aneurysm
59	ACTA2	HP:0004927	Pulmonary artery dilatation
59	ACTA2	HP:0000766	Abnormal sternum morphology
59	ACTA2	HP:0012727	Thoracic aortic aneurysm
59	ACTA2	HP:0011499	Mydriasis
59	ACTA2	HP:0012763	Paroxysmal dyspnea
59	ACTA2	HP:0000822	Hypertension
59	ACTA2	HP:0030891	Periventricular white matter hyperintensities
59	ACTA2	HP:0000978	Bruising susceptibility
59	ACTA2	HP:0034324	Brachiocephalic artery aneurysm
59	ACTA2	HP:0034325	Common carotid artery aneurysm
59	ACTA2	HP:0000965	Cutis marmorata
59	ACTA2	HP:0000278	Retrognathia
59	ACTA2	HP:0005113	Aortic arch aneurysm
59	ACTA2	HP:0005112	Abdominal aortic aneurysm
59	ACTA2	HP:0002875	Exertional dyspnea
59	ACTA2	HP:0007866	Retinal infarction
59	ACTA2	HP:0005181	Premature coronary artery atherosclerosis
59	ACTA2	HP:0005162	Abnormal left ventricular function
59	ACTA2	HP:0001677	Coronary artery atherosclerosis
59	ACTA2	HP:0001647	Bicuspid aortic valve
59	ACTA2	HP:0000316	Hypertelorism
59	ACTA2	HP:0001643	Patent ductus arteriosus
59	ACTA2	HP:0001659	Aortic regurgitation
59	ACTA2	HP:0001640	Cardiomegaly
59	ACTA2	HP:0001631	Atrial septal defect
59	ACTA2	HP:0012499	Descending aortic dissection
59	ACTA2	HP:0011106	Hypovolemia
59	ACTA2	HP:0001763	Pes planus
59	ACTA2	HP:0000525	Abnormality iris morphology
60	ACTB	HP:0007325	Generalized dystonia
60	ACTB	HP:0010935	Abnormality of the upper urinary tract
60	ACTB	HP:0009942	Duplication of thumb phalanx
60	ACTB	HP:0007227	Macrogyria
60	ACTB	HP:0001100	Heterochromia iridis
60	ACTB	HP:0003724	Shoulder girdle muscle atrophy
60	ACTB	HP:0001290	Generalized hypotonia
60	ACTB	HP:0001274	Agenesis of corpus callosum
60	ACTB	HP:0001270	Motor delay
60	ACTB	HP:0001268	Mental deterioration
60	ACTB	HP:0001256	Intellectual disability, mild
60	ACTB	HP:0001250	Seizure
60	ACTB	HP:0001252	Hypotonia
60	ACTB	HP:0001249	Intellectual disability
60	ACTB	HP:0001260	Dysarthria
60	ACTB	HP:0001263	Global developmental delay
60	ACTB	HP:0002558	Supernumerary nipple
60	ACTB	HP:0002571	Achalasia
60	ACTB	HP:0002553	Highly arched eyebrow
60	ACTB	HP:0002505	Loss of ambulation
60	ACTB	HP:0000064	Hypoplastic labia minora
60	ACTB	HP:0000072	Hydroureter
60	ACTB	HP:0000045	Abnormality of the scrotum
60	ACTB	HP:0000054	Micropenis
60	ACTB	HP:0001387	Joint stiffness
60	ACTB	HP:0000028	Cryptorchidism
60	ACTB	HP:0008897	Postnatal growth retardation
60	ACTB	HP:0008796	Femoral retroversion
60	ACTB	HP:0001328	Specific learning disability
60	ACTB	HP:0001339	Lissencephaly
60	ACTB	HP:0000006	Autosomal dominant inheritance
60	ACTB	HP:0001302	Pachygyria
60	ACTB	HP:0002652	Skeletal dysplasia
60	ACTB	HP:0002650	Scoliosis
60	ACTB	HP:0012157	Subcortical cerebral atrophy
60	ACTB	HP:0000158	Macroglossia
60	ACTB	HP:0000175	Cleft palate
60	ACTB	HP:0000154	Wide mouth
60	ACTB	HP:0000126	Hydronephrosis
60	ACTB	HP:0002751	Kyphoscoliosis
60	ACTB	HP:0002721	Immunodeficiency
60	ACTB	HP:0002000	Short columella
60	ACTB	HP:0002015	Dysphagia
60	ACTB	HP:0011800	Midface retrusion
60	ACTB	HP:0100540	Palpebral edema
60	ACTB	HP:0100560	Upper limb asymmetry
60	ACTB	HP:0100559	Lower limb asymmetry
60	ACTB	HP:0100578	Lipoatrophy
60	ACTB	HP:0002120	Cerebral cortical atrophy
60	ACTB	HP:0002119	Ventriculomegaly
60	ACTB	HP:0002126	Polymicrogyria
60	ACTB	HP:0002162	Low posterior hairline
60	ACTB	HP:0010566	Hamartoma
60	ACTB	HP:0010553	Oculogyric crisis
60	ACTB	HP:0010529	Echolalia
60	ACTB	HP:0003577	Congenital onset
60	ACTB	HP:0007024	Pseudobulbar paralysis
60	ACTB	HP:0011968	Feeding difficulties
60	ACTB	HP:0002381	Aphasia
60	ACTB	HP:0001034	Hypermelanotic macule
60	ACTB	HP:0002326	Transient ischemic attack
60	ACTB	HP:0100613	Death in early adulthood
60	ACTB	HP:0002300	Mutism
60	ACTB	HP:0030502	Retinoschisis
60	ACTB	HP:0010066	Duplication of phalanx of hallux
60	ACTB	HP:0000637	Long palpebral fissure
60	ACTB	HP:0000618	Blindness
60	ACTB	HP:0000612	Iris coloboma
60	ACTB	HP:0011342	Mild global developmental delay
60	ACTB	HP:0004322	Short stature
60	ACTB	HP:0031959	Leg dystonia
60	ACTB	HP:0000767	Pectus excavatum
60	ACTB	HP:0000768	Pectus carinatum
60	ACTB	HP:0012905	Euryblepharon
60	ACTB	HP:0003196	Short nose
60	ACTB	HP:0100308	Cerebral cortical hemiatrophy
60	ACTB	HP:0003189	Long nose
60	ACTB	HP:0000902	Rib fusion
60	ACTB	HP:0000882	Hypoplastic scapulae
60	ACTB	HP:0003298	Spina bifida occulta
60	ACTB	HP:0010311	Aplasia/Hypoplasia of the breasts
60	ACTB	HP:0005815	Supernumerary ribs
60	ACTB	HP:0040188	Osteochondrosis
60	ACTB	HP:0000286	Epicanthus
60	ACTB	HP:0000280	Coarse facial features
60	ACTB	HP:0000278	Retrognathia
60	ACTB	HP:0000293	Full cheeks
60	ACTB	HP:0000270	Delayed cranial suture closure
60	ACTB	HP:0002808	Kyphosis
60	ACTB	HP:0000243	Trigonocephaly
60	ACTB	HP:0000239	Large fontanelles
60	ACTB	HP:0000252	Microcephaly
60	ACTB	HP:0000219	Thin upper lip vermilion
60	ACTB	HP:0000233	Thin vermilion border
60	ACTB	HP:0000202	Orofacial cleft
60	ACTB	HP:0000204	Cleft upper lip
60	ACTB	HP:0001508	Failure to thrive
60	ACTB	HP:0001518	Small for gestational age
60	ACTB	HP:0001510	Growth delay
60	ACTB	HP:0000396	Overfolded helix
60	ACTB	HP:0000369	Low-set ears
60	ACTB	HP:0000343	Long philtrum
60	ACTB	HP:0000348	High forehead
60	ACTB	HP:0000347	Micrognathia
60	ACTB	HP:0001650	Aortic valve stenosis
60	ACTB	HP:0002983	Micromelia
60	ACTB	HP:0001647	Bicuspid aortic valve
60	ACTB	HP:0000316	Hypertelorism
60	ACTB	HP:0001643	Patent ductus arteriosus
60	ACTB	HP:0002992	Abnormality of tibia morphology
60	ACTB	HP:0000307	Pointed chin
60	ACTB	HP:0000407	Sensorineural hearing impairment
60	ACTB	HP:0000482	Microcornea
60	ACTB	HP:0000494	Downslanted palpebral fissures
60	ACTB	HP:0000463	Anteverted nares
60	ACTB	HP:0000470	Short neck
60	ACTB	HP:0000465	Webbed neck
60	ACTB	HP:0000437	Depressed nasal tip
60	ACTB	HP:0000448	Prominent nose
60	ACTB	HP:0000445	Wide nose
60	ACTB	HP:0000431	Wide nasal bridge
60	ACTB	HP:0005487	Prominent metopic ridge
60	ACTB	HP:0000518	Cataract
60	ACTB	HP:0000506	Telecanthus
60	ACTB	HP:0000508	Ptosis
60	ACTB	HP:0000588	Optic disc coloboma
60	ACTB	HP:0000568	Microphthalmia
60	ACTB	HP:0000567	Chorioretinal coloboma
70	ACTC1	HP:0001297	Stroke
70	ACTC1	HP:0001279	Syncope
70	ACTC1	HP:0000006	Autosomal dominant inheritance
70	ACTC1	HP:0033755	Increased left ventricular end-diastolic volume
70	ACTC1	HP:0002718	Recurrent bacterial infections
70	ACTC1	HP:0005957	Breathing dysregulation
70	ACTC1	HP:0002094	Dyspnea
70	ACTC1	HP:0002092	Pulmonary arterial hypertension
70	ACTC1	HP:0002090	Pneumonia
70	ACTC1	HP:0100578	Lipoatrophy
70	ACTC1	HP:0011711	Left anterior fascicular block
70	ACTC1	HP:0011712	Right bundle branch block
70	ACTC1	HP:0011713	Left bundle branch block
70	ACTC1	HP:0011710	Bundle branch block
70	ACTC1	HP:0011705	First degree atrioventricular block
70	ACTC1	HP:0003457	EMG abnormality
70	ACTC1	HP:0004756	Ventricular tachycardia
70	ACTC1	HP:0004755	Supraventricular tachycardia
70	ACTC1	HP:0004749	Atrial flutter
70	ACTC1	HP:0003596	Middle age onset
70	ACTC1	HP:0003584	Late onset
70	ACTC1	HP:0003581	Adult onset
70	ACTC1	HP:0003546	Exercise intolerance
70	ACTC1	HP:0100749	Chest pain
70	ACTC1	HP:0002326	Transient ischemic attack
70	ACTC1	HP:0010741	Pedal edema
70	ACTC1	HP:0003621	Juvenile onset
70	ACTC1	HP:0001962	Palpitations
70	ACTC1	HP:0031971	Subaortic ventricular septal bulge
70	ACTC1	HP:0004308	Ventricular arrhythmia
70	ACTC1	HP:0030682	Left ventricular noncompaction
70	ACTC1	HP:0011463	Childhood onset
70	ACTC1	HP:0011462	Young adult onset
70	ACTC1	HP:0012764	Orthopnea
70	ACTC1	HP:0003198	Myopathy
70	ACTC1	HP:0030718	Right atrial enlargement
70	ACTC1	HP:0003236	Elevated circulating creatine kinase concentration
70	ACTC1	HP:0000982	Palmoplantar keratoderma
70	ACTC1	HP:0000961	Cyanosis
70	ACTC1	HP:0011675	Arrhythmia
70	ACTC1	HP:0012250	ST segment depression
70	ACTC1	HP:0005133	Right ventricular dilatation
70	ACTC1	HP:0005115	Supraventricular arrhythmia
70	ACTC1	HP:0005110	Atrial fibrillation
70	ACTC1	HP:0031318	Myofiber disarray
70	ACTC1	HP:0031319	Cardiomyocyte hypertrophy
70	ACTC1	HP:0031329	Interstitial cardiac fibrosis
70	ACTC1	HP:0002875	Exertional dyspnea
70	ACTC1	HP:0012378	Fatigue
70	ACTC1	HP:0012382	Left-to-right shunt
70	ACTC1	HP:0006536	Airway obstruction
70	ACTC1	HP:0005180	Tricuspid regurgitation
70	ACTC1	HP:0005162	Abnormal left ventricular function
70	ACTC1	HP:0001695	Cardiac arrest
70	ACTC1	HP:0001684	Secundum atrial septal defect
70	ACTC1	HP:0001681	Angina pectoris
70	ACTC1	HP:0001644	Dilated cardiomyopathy
70	ACTC1	HP:0001663	Ventricular fibrillation
70	ACTC1	HP:0001653	Mitral regurgitation
70	ACTC1	HP:0001639	Hypertrophic cardiomyopathy
70	ACTC1	HP:0001635	Congestive heart failure
70	ACTC1	HP:0001631	Atrial septal defect
70	ACTC1	HP:0001633	Abnormal mitral valve morphology
70	ACTC1	HP:0005317	Increased pulmonary vascular resistance
70	ACTC1	HP:0001723	Restrictive cardiomyopathy
70	ACTC1	HP:0000407	Sensorineural hearing impairment
70	ACTC1	HP:0001708	Right ventricular failure
70	ACTC1	HP:0001712	Left ventricular hypertrophy
70	ACTC1	HP:0031664	Systolic heart murmur
70	ACTC1	HP:0001874	Abnormality of neutrophils
71	ACTG1	HP:0010935	Abnormality of the upper urinary tract
71	ACTG1	HP:0008619	Bilateral sensorineural hearing impairment
71	ACTG1	HP:0009942	Duplication of thumb phalanx
71	ACTG1	HP:0007227	Macrogyria
71	ACTG1	HP:0001100	Heterochromia iridis
71	ACTG1	HP:0001274	Agenesis of corpus callosum
71	ACTG1	HP:0001250	Seizure
71	ACTG1	HP:0001249	Intellectual disability
71	ACTG1	HP:0001263	Global developmental delay
71	ACTG1	HP:0002553	Highly arched eyebrow
71	ACTG1	HP:0000072	Hydroureter
71	ACTG1	HP:0001387	Joint stiffness
71	ACTG1	HP:0001328	Specific learning disability
71	ACTG1	HP:0001339	Lissencephaly
71	ACTG1	HP:0000006	Autosomal dominant inheritance
71	ACTG1	HP:0001302	Pachygyria
71	ACTG1	HP:0002652	Skeletal dysplasia
71	ACTG1	HP:0002650	Scoliosis
71	ACTG1	HP:0012157	Subcortical cerebral atrophy
71	ACTG1	HP:0000154	Wide mouth
71	ACTG1	HP:0000126	Hydronephrosis
71	ACTG1	HP:0002000	Short columella
71	ACTG1	HP:0100540	Palpebral edema
71	ACTG1	HP:0002120	Cerebral cortical atrophy
71	ACTG1	HP:0002119	Ventriculomegaly
71	ACTG1	HP:0002126	Polymicrogyria
71	ACTG1	HP:0002162	Low posterior hairline
71	ACTG1	HP:0010529	Echolalia
71	ACTG1	HP:0011968	Feeding difficulties
71	ACTG1	HP:0002381	Aphasia
71	ACTG1	HP:0002326	Transient ischemic attack
71	ACTG1	HP:0002300	Mutism
71	ACTG1	HP:0030502	Retinoschisis
71	ACTG1	HP:0000637	Long palpebral fissure
71	ACTG1	HP:0000612	Iris coloboma
71	ACTG1	HP:0004322	Short stature
71	ACTG1	HP:0030680	Abnormality of cardiovascular system morphology
71	ACTG1	HP:0011462	Young adult onset
71	ACTG1	HP:0012905	Euryblepharon
71	ACTG1	HP:0100308	Cerebral cortical hemiatrophy
71	ACTG1	HP:0003189	Long nose
71	ACTG1	HP:0040188	Osteochondrosis
71	ACTG1	HP:0000286	Epicanthus
71	ACTG1	HP:0000280	Coarse facial features
71	ACTG1	HP:0000278	Retrognathia
71	ACTG1	HP:0000293	Full cheeks
71	ACTG1	HP:0000270	Delayed cranial suture closure
71	ACTG1	HP:0000243	Trigonocephaly
71	ACTG1	HP:0000239	Large fontanelles
71	ACTG1	HP:0000252	Microcephaly
71	ACTG1	HP:0000219	Thin upper lip vermilion
71	ACTG1	HP:0000233	Thin vermilion border
71	ACTG1	HP:0000202	Orofacial cleft
71	ACTG1	HP:0001508	Failure to thrive
71	ACTG1	HP:0001510	Growth delay
71	ACTG1	HP:0000377	Abnormal pinna morphology
71	ACTG1	HP:0000365	Hearing impairment
71	ACTG1	HP:0000343	Long philtrum
71	ACTG1	HP:0000347	Micrognathia
71	ACTG1	HP:0000316	Hypertelorism
71	ACTG1	HP:0000307	Pointed chin
71	ACTG1	HP:0000408	Progressive sensorineural hearing impairment
71	ACTG1	HP:0000482	Microcornea
71	ACTG1	HP:0000494	Downslanted palpebral fissures
71	ACTG1	HP:0000470	Short neck
71	ACTG1	HP:0000465	Webbed neck
71	ACTG1	HP:0000437	Depressed nasal tip
71	ACTG1	HP:0000448	Prominent nose
71	ACTG1	HP:0000445	Wide nose
71	ACTG1	HP:0000431	Wide nasal bridge
71	ACTG1	HP:0005487	Prominent metopic ridge
71	ACTG1	HP:0005484	Secondary microcephaly
71	ACTG1	HP:0000506	Telecanthus
71	ACTG1	HP:0000508	Ptosis
71	ACTG1	HP:0000589	Coloboma
71	ACTG1	HP:0000588	Optic disc coloboma
71	ACTG1	HP:0000568	Microphthalmia
72	ACTG2	HP:0001166	Arachnodactyly
72	ACTG2	HP:0100806	Sepsis
72	ACTG2	HP:0002578	Gastroparesis
72	ACTG2	HP:0002566	Intestinal malrotation
72	ACTG2	HP:0001399	Hepatic failure
72	ACTG2	HP:0000076	Vesicoureteral reflux
72	ACTG2	HP:0000072	Hydroureter
72	ACTG2	HP:0001387	Joint stiffness
72	ACTG2	HP:0000021	Megacystis
72	ACTG2	HP:0000016	Urinary retention
72	ACTG2	HP:0000028	Cryptorchidism
72	ACTG2	HP:0000003	Multicystic kidney dysplasia
72	ACTG2	HP:0000006	Autosomal dominant inheritance
72	ACTG2	HP:0000175	Cleft palate
72	ACTG2	HP:0000126	Hydronephrosis
72	ACTG2	HP:0001409	Portal hypertension
72	ACTG2	HP:0002019	Constipation
72	ACTG2	HP:0002017	Nausea and vomiting
72	ACTG2	HP:0003363	Abdominal situs inversus
72	ACTG2	HP:0002027	Abdominal pain
72	ACTG2	HP:0030996	Megaduodenum
72	ACTG2	HP:0002014	Diarrhea
72	ACTG2	HP:0002015	Dysphagia
72	ACTG2	HP:0002013	Vomiting
72	ACTG2	HP:0100544	Neoplasm of the heart
72	ACTG2	HP:0100490	Camptodactyly of finger
72	ACTG2	HP:0003577	Congenital onset
72	ACTG2	HP:0002251	Aganglionic megacolon
72	ACTG2	HP:0100771	Hypoperistalsis
72	ACTG2	HP:0030680	Abnormality of cardiovascular system morphology
72	ACTG2	HP:0004389	Intestinal pseudo-obstruction
72	ACTG2	HP:0004388	Microcolon
72	ACTG2	HP:0004395	Malnutrition
72	ACTG2	HP:0011461	Fetal onset
72	ACTG2	HP:0000774	Narrow chest
72	ACTG2	HP:0000843	Hyperparathyroidism
72	ACTG2	HP:0003270	Abdominal distention
72	ACTG2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
72	ACTG2	HP:0000252	Microcephaly
72	ACTG2	HP:0001562	Oligohydramnios
72	ACTG2	HP:0001561	Polyhydramnios
72	ACTG2	HP:0001522	Death in infancy
72	ACTG2	HP:0001537	Umbilical hernia
72	ACTG2	HP:0001539	Omphalocele
72	ACTG2	HP:0011024	Abnormality of the gastrointestinal tract
72	ACTG2	HP:0000368	Low-set, posteriorly rotated ears
72	ACTG2	HP:0000337	Broad forehead
72	ACTG2	HP:0000347	Micrognathia
72	ACTG2	HP:0000311	Round face
72	ACTG2	HP:0001733	Pancreatitis
72	ACTG2	HP:0000463	Anteverted nares
72	ACTG2	HP:0001798	Anonychia
72	ACTG2	HP:0000426	Prominent nasal bridge
81	ACTN4	HP:0003774	Stage 5 chronic kidney disease
81	ACTN4	HP:0002586	Peritonitis
81	ACTN4	HP:0003828	Variable expressivity
81	ACTN4	HP:0003829	Typified by incomplete penetrance
81	ACTN4	HP:0000097	Focal segmental glomerulosclerosis
81	ACTN4	HP:0000093	Proteinuria
81	ACTN4	HP:0000006	Autosomal dominant inheritance
81	ACTN4	HP:0002027	Abdominal pain
81	ACTN4	HP:0100539	Periorbital edema
81	ACTN4	HP:0011947	Respiratory tract infection
81	ACTN4	HP:0003677	Slowly progressive
81	ACTN4	HP:0002315	Headache
81	ACTN4	HP:0012622	Chronic kidney disease
81	ACTN4	HP:0001967	Diffuse mesangial sclerosis
81	ACTN4	HP:0001945	Fever
81	ACTN4	HP:0001903	Anemia
81	ACTN4	HP:0003077	Hyperlipidemia
81	ACTN4	HP:0003073	Hypoalbuminemia
81	ACTN4	HP:0000737	Irritability
81	ACTN4	HP:0000707	Abnormality of the nervous system
81	ACTN4	HP:0000822	Hypertension
81	ACTN4	HP:0000969	Edema
81	ACTN4	HP:0031504	Foamy urine
81	ACTN4	HP:0012579	Minimal change glomerulonephritis
87	ACTN1	HP:0000006	Autosomal dominant inheritance
87	ACTN1	HP:0032438	Platelet anisocytosis
87	ACTN1	HP:0011877	Increased mean platelet volume
87	ACTN1	HP:0011869	Abnormal platelet function
87	ACTN1	HP:0004866	Impaired ADP-induced platelet aggregation
87	ACTN1	HP:0000421	Epistaxis
87	ACTN1	HP:0001873	Thrombocytopenia
88	ACTN2	HP:0002460	Distal muscle weakness
88	ACTN2	HP:0020202	Abnormal Z disc morphology
88	ACTN2	HP:0020203	Z-band streaming
88	ACTN2	HP:0003736	Autophagic vacuoles
88	ACTN2	HP:0003701	Proximal muscle weakness
88	ACTN2	HP:0001290	Generalized hypotonia
88	ACTN2	HP:0001288	Gait disturbance
88	ACTN2	HP:0003805	Rimmed vacuoles
88	ACTN2	HP:0003803	Type 1 muscle fiber predominance
88	ACTN2	HP:0008872	Feeding difficulties in infancy
88	ACTN2	HP:0001324	Muscle weakness
88	ACTN2	HP:0000006	Autosomal dominant inheritance
88	ACTN2	HP:0002650	Scoliosis
88	ACTN2	HP:0002792	Reduced vital capacity
88	ACTN2	HP:0031237	Internally nucleated skeletal muscle fibers
88	ACTN2	HP:0002093	Respiratory insufficiency
88	ACTN2	HP:0100578	Lipoatrophy
88	ACTN2	HP:0003457	EMG abnormality
88	ACTN2	HP:0004755	Supraventricular tachycardia
88	ACTN2	HP:0003557	Increased variability in muscle fiber diameter
88	ACTN2	HP:0003693	Distal amyotrophy
88	ACTN2	HP:0003621	Juvenile onset
88	ACTN2	HP:0009027	Foot dorsiflexor weakness
88	ACTN2	HP:0030682	Left ventricular noncompaction
88	ACTN2	HP:0031936	Delayed ability to walk
88	ACTN2	HP:0011462	Young adult onset
88	ACTN2	HP:0011421	Death in adolescence
88	ACTN2	HP:0003198	Myopathy
88	ACTN2	HP:0003236	Elevated circulating creatine kinase concentration
88	ACTN2	HP:0000982	Palmoplantar keratoderma
88	ACTN2	HP:0100295	Muscle fiber atrophy
88	ACTN2	HP:0007715	Weak extraocular muscles
88	ACTN2	HP:0005110	Atrial fibrillation
88	ACTN2	HP:0031318	Myofiber disarray
88	ACTN2	HP:0031319	Cardiomyocyte hypertrophy
88	ACTN2	HP:0000218	High palate
88	ACTN2	HP:0001695	Cardiac arrest
88	ACTN2	HP:0001678	Atrioventricular block
88	ACTN2	HP:0001644	Dilated cardiomyopathy
88	ACTN2	HP:0001640	Cardiomegaly
88	ACTN2	HP:0001639	Hypertrophic cardiomyopathy
88	ACTN2	HP:0001635	Congestive heart failure
88	ACTN2	HP:0030319	Weakness of facial musculature
88	ACTN2	HP:0006685	Endocardial fibrosis
88	ACTN2	HP:0000407	Sensorineural hearing impairment
88	ACTN2	HP:0001706	Endocardial fibroelastosis
88	ACTN2	HP:0001712	Left ventricular hypertrophy
88	ACTN2	HP:0000597	Ophthalmoparesis
88	ACTN2	HP:0001874	Abnormality of neutrophils
90	ACVR1	HP:0001256	Intellectual disability, mild
90	ACVR1	HP:0001250	Seizure
90	ACVR1	HP:0001249	Intellectual disability
90	ACVR1	HP:0001376	Limitation of joint mobility
90	ACVR1	HP:0000006	Autosomal dominant inheritance
90	ACVR1	HP:0002650	Scoliosis
90	ACVR1	HP:0001482	Subcutaneous nodule
90	ACVR1	HP:0003306	Spinal rigidity
90	ACVR1	HP:0005986	Limitation of neck motion
90	ACVR1	HP:0004629	Small cervical vertebral bodies
90	ACVR1	HP:0002093	Respiratory insufficiency
90	ACVR1	HP:0003468	Abnormal vertebral morphology
90	ACVR1	HP:0002135	Basal ganglia calcification
90	ACVR1	HP:0010566	Hamartoma
90	ACVR1	HP:0003577	Congenital onset
90	ACVR1	HP:0011987	Ectopic ossification in muscle tissue
90	ACVR1	HP:0011988	Ectopic ossification in tendon tissue
90	ACVR1	HP:0011989	Ectopic ossification in ligament tissue
90	ACVR1	HP:0008449	Progressive cervical vertebral spine fusion
90	ACVR1	HP:0004209	Clinodactyly of the 5th finger
90	ACVR1	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux
90	ACVR1	HP:0001903	Anemia
90	ACVR1	HP:0010054	Abnormality of the first metatarsal bone
90	ACVR1	HP:0010034	Short 1st metacarpal
90	ACVR1	HP:0000687	Widely spaced teeth
90	ACVR1	HP:0003016	Metaphyseal widening
90	ACVR1	HP:0010109	Short hallux
90	ACVR1	HP:0003155	Elevated circulating alkaline phosphatase concentration
90	ACVR1	HP:0100240	Synostosis of joints
90	ACVR1	HP:0001596	Alopecia
90	ACVR1	HP:0006429	Broad femoral neck
90	ACVR1	HP:0002878	Respiratory failure
90	ACVR1	HP:0001508	Failure to thrive
90	ACVR1	HP:0000365	Hearing impairment
90	ACVR1	HP:0000407	Sensorineural hearing impairment
90	ACVR1	HP:0000405	Conductive hearing impairment
90	ACVR1	HP:0001822	Hallux valgus
90	ACVR1	HP:0000501	Glaucoma
93	ACVR2B	HP:0012020	Right aortic arch
93	ACVR2B	HP:0000006	Autosomal dominant inheritance
93	ACVR2B	HP:0010452	Ectopia of the spleen
93	ACVR2B	HP:0003577	Congenital onset
93	ACVR2B	HP:0033379	Bilateral superior vena cava
93	ACVR2B	HP:0004935	Pulmonary artery atresia
93	ACVR2B	HP:0034188	Midline liver
93	ACVR2B	HP:0011565	Common atrium
93	ACVR2B	HP:0011671	Interrupted inferior vena cava with azygous continuation
93	ACVR2B	HP:0031348	Dextrotransposition of the great arteries
93	ACVR2B	HP:0005160	Total anomalous pulmonary venous return
93	ACVR2B	HP:0001674	Complete atrioventricular canal defect
93	ACVR2B	HP:0001669	Transposition of the great arteries
93	ACVR2B	HP:0001651	Dextrocardia
93	ACVR2B	HP:0001629	Ventricular septal defect
93	ACVR2B	HP:0006695	Atrioventricular canal defect
93	ACVR2B	HP:0001748	Polysplenia
94	ACVRL1	HP:0002408	Cerebral arteriovenous malformation
94	ACVRL1	HP:0001250	Seizure
94	ACVRL1	HP:0001232	Nail bed telangiectasia
94	ACVRL1	HP:0002573	Hematochezia
94	ACVRL1	HP:0006107	Fingerpad telangiectases
94	ACVRL1	HP:0007420	Spontaneous hematomas
94	ACVRL1	HP:0100869	Palmar telangiectasia
94	ACVRL1	HP:0007380	Facial telangiectasia
94	ACVRL1	HP:0001217	Clubbing
94	ACVRL1	HP:0001399	Hepatic failure
94	ACVRL1	HP:0001394	Cirrhosis
94	ACVRL1	HP:0001342	Cerebral hemorrhage
94	ACVRL1	HP:0000006	Autosomal dominant inheritance
94	ACVRL1	HP:0002629	Gastrointestinal arteriovenous malformation
94	ACVRL1	HP:0002604	Gastrointestinal telangiectasia
94	ACVRL1	HP:0002707	Palate telangiectasia
94	ACVRL1	HP:0001409	Portal hypertension
94	ACVRL1	HP:0002094	Dyspnea
94	ACVRL1	HP:0002092	Pulmonary arterial hypertension
94	ACVRL1	HP:0002076	Migraine
94	ACVRL1	HP:0002040	Esophageal varix
94	ACVRL1	HP:0100585	Telangiectasia of the skin
94	ACVRL1	HP:0100579	Mucosal telangiectasiae
94	ACVRL1	HP:0002140	Ischemic stroke
94	ACVRL1	HP:0002138	Subarachnoid hemorrhage
94	ACVRL1	HP:0002105	Hemoptysis
94	ACVRL1	HP:0002239	Gastrointestinal hemorrhage
94	ACVRL1	HP:0002249	Melena
94	ACVRL1	HP:0002248	Hematemesis
94	ACVRL1	HP:0002204	Pulmonary embolism
94	ACVRL1	HP:0100784	Peripheral arteriovenous fistula
94	ACVRL1	HP:0100761	Visceral angiomatosis
94	ACVRL1	HP:0001048	Cavernous hemangioma
94	ACVRL1	HP:0002390	Spinal arteriovenous malformation
94	ACVRL1	HP:0002326	Transient ischemic attack
94	ACVRL1	HP:0100659	Abnormal cerebral vascular morphology
94	ACVRL1	HP:0200008	Intestinal polyposis
94	ACVRL1	HP:0001081	Cholelithiasis
94	ACVRL1	HP:0001082	Cholecystitis
94	ACVRL1	HP:0004936	Venous thrombosis
94	ACVRL1	HP:0000646	Amblyopia
94	ACVRL1	HP:0001935	Microcytic anemia
94	ACVRL1	HP:0001903	Anemia
94	ACVRL1	HP:0001901	Polycythemia
94	ACVRL1	HP:0030491	Choriocapillaris atrophy
94	ACVRL1	HP:0100026	Arteriovenous malformation
94	ACVRL1	HP:0000790	Hematuria
94	ACVRL1	HP:0000787	Nephrolithiasis
94	ACVRL1	HP:0004406	Spontaneous, recurrent epistaxis
94	ACVRL1	HP:0000822	Hypertension
94	ACVRL1	HP:0000961	Cyanosis
94	ACVRL1	HP:0007763	Retinal telangiectasia
94	ACVRL1	HP:0000214	Lip telangiectasia
94	ACVRL1	HP:0000228	Oral cavity telangiectasia
94	ACVRL1	HP:0000227	Tongue telangiectasia
94	ACVRL1	HP:0030049	Brain abscess
94	ACVRL1	HP:0011025	Abnormal cardiovascular system physiology
94	ACVRL1	HP:0006574	Hepatic arteriovenous malformation
94	ACVRL1	HP:0006548	Pulmonary arteriovenous malformation
94	ACVRL1	HP:0001694	Right-to-left shunt
94	ACVRL1	HP:0001635	Congestive heart failure
94	ACVRL1	HP:0000471	Gastrointestinal angiodysplasia
94	ACVRL1	HP:0000434	Nasal mucosa telangiectasia
94	ACVRL1	HP:0000421	Epistaxis
94	ACVRL1	HP:0000524	Conjunctival telangiectasia
95	ACY1	HP:0001298	Encephalopathy
95	ACY1	HP:0001290	Generalized hypotonia
95	ACY1	HP:0001272	Cerebellar atrophy
95	ACY1	HP:0001250	Seizure
95	ACY1	HP:0001252	Hypotonia
95	ACY1	HP:0001263	Global developmental delay
95	ACY1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
95	ACY1	HP:0001324	Muscle weakness
95	ACY1	HP:0000007	Autosomal recessive inheritance
95	ACY1	HP:0002013	Vomiting
95	ACY1	HP:0003324	Generalized muscle weakness
95	ACY1	HP:0002069	Bilateral tonic-clonic seizure
95	ACY1	HP:0003396	Syringomyelia
95	ACY1	HP:0002059	Cerebral atrophy
95	ACY1	HP:0002120	Cerebral cortical atrophy
95	ACY1	HP:0002104	Apnea
95	ACY1	HP:0002188	Delayed CNS myelination
95	ACY1	HP:0011968	Feeding difficulties
95	ACY1	HP:0003623	Neonatal onset
95	ACY1	HP:0006846	Acute encephalopathy
95	ACY1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
95	ACY1	HP:0000752	Hyperactivity
95	ACY1	HP:0000316	Hypertelorism
95	ACY1	HP:0001662	Bradycardia
95	ACY1	HP:0001623	Breech presentation
95	ACY1	HP:0000407	Sensorineural hearing impairment
95	ACY1	HP:0000445	Wide nose
95	ACY1	HP:0000431	Wide nasal bridge
100	ADA	HP:0100806	Sepsis
100	ADA	HP:0001270	Motor delay
100	ADA	HP:0100840	Aplasia/Hypoplasia of the eyebrow
100	ADA	HP:0010976	B lymphocytopenia
100	ADA	HP:0025379	Anti-thyroid peroxidase antibody positivity
100	ADA	HP:0007549	Desquamation of skin soon after birth
100	ADA	HP:0031164	Growth arrest lines
100	ADA	HP:0000007	Autosomal recessive inheritance
100	ADA	HP:0002665	Lymphoma
100	ADA	HP:0002644	Abnormal pelvic girdle bone morphology
100	ADA	HP:0012191	B-cell lymphoma
100	ADA	HP:0002788	Recurrent upper respiratory tract infections
100	ADA	HP:0000100	Nephrotic syndrome
100	ADA	HP:0001442	Somatic mosaicism
100	ADA	HP:0031233	Horizontal inferior border of scapula
100	ADA	HP:0002718	Recurrent bacterial infections
100	ADA	HP:0002716	Lymphadenopathy
100	ADA	HP:0002728	Chronic mucocutaneous candidiasis
100	ADA	HP:0002720	Decreased circulating IgA level
100	ADA	HP:0002028	Chronic diarrhea
100	ADA	HP:0002014	Diarrhea
100	ADA	HP:0002099	Asthma
100	ADA	HP:0002090	Pneumonia
100	ADA	HP:0010444	Pulmonary insufficiency
100	ADA	HP:0003593	Infantile onset
100	ADA	HP:0002240	Hepatomegaly
100	ADA	HP:0008348	Decreased circulating IgG2 level
100	ADA	HP:0001019	Erythroderma
100	ADA	HP:0100646	Thyroiditis
100	ADA	HP:0001072	Thickened skin
100	ADA	HP:0003623	Neonatal onset
100	ADA	HP:0001967	Diffuse mesangial sclerosis
100	ADA	HP:0001973	Autoimmune thrombocytopenia
100	ADA	HP:0001974	Leukocytosis
100	ADA	HP:0001945	Fever
100	ADA	HP:0001954	Recurrent fever
100	ADA	HP:0001903	Anemia
100	ADA	HP:0004332	Abnormal lymphocyte morphology
100	ADA	HP:0004430	Severe combined immunodeficiency
100	ADA	HP:0004429	Recurrent viral infections
100	ADA	HP:0000926	Platyspondyly
100	ADA	HP:0000907	Anterior rib cupping
100	ADA	HP:0000821	Hypothyroidism
100	ADA	HP:0003212	Increased circulating IgE level
100	ADA	HP:0030813	Absent tonsils
100	ADA	HP:0000989	Pruritus
100	ADA	HP:0000988	Skin rash
100	ADA	HP:0000958	Dry skin
100	ADA	HP:0000969	Edema
100	ADA	HP:0000944	Abnormal metaphysis morphology
100	ADA	HP:0001596	Alopecia
100	ADA	HP:0000246	Sinusitis
100	ADA	HP:0001508	Failure to thrive
100	ADA	HP:0002850	Decreased circulating total IgM
100	ADA	HP:0002849	Absence of lymph node germinal center
100	ADA	HP:0002841	Recurrent fungal infections
100	ADA	HP:0012393	Allergy
100	ADA	HP:0006532	Recurrent pneumonia
100	ADA	HP:0002960	Autoimmunity
100	ADA	HP:0005359	Aplasia of the thymus
100	ADA	HP:0005354	Lack of T cell function
100	ADA	HP:0005368	Abnormality of humoral immunity
100	ADA	HP:0005365	Severe B lymphocytopenia
100	ADA	HP:0000403	Recurrent otitis media
100	ADA	HP:0011123	Inflammatory abnormality of the skin
100	ADA	HP:0030273	Reduced red cell adenosine deaminase level
100	ADA	HP:0001744	Splenomegaly
100	ADA	HP:0005424	Absent specific antibody response
100	ADA	HP:0005403	T lymphocytopenia
100	ADA	HP:0001831	Short toe
100	ADA	HP:0005390	Recurrent opportunistic infections
100	ADA	HP:0001890	Autoimmune hemolytic anemia
100	ADA	HP:0001888	Lymphopenia
100	ADA	HP:0001880	Eosinophilia
102	ADAM10	HP:0000006	Autosomal dominant inheritance
102	ADAM10	HP:0000962	Hyperkeratosis
103	ADAR	HP:0002446	Astrocytosis
103	ADAR	HP:0007256	Abnormal pyramidal sign
103	ADAR	HP:0002415	Leukodystrophy
103	ADAR	HP:0001276	Hypertonia
103	ADAR	HP:0001288	Gait disturbance
103	ADAR	HP:0001285	Spastic tetraparesis
103	ADAR	HP:0001256	Intellectual disability, mild
103	ADAR	HP:0001250	Seizure
103	ADAR	HP:0001251	Ataxia
103	ADAR	HP:0001266	Choreoathetosis
103	ADAR	HP:0001260	Dysarthria
103	ADAR	HP:0001263	Global developmental delay
103	ADAR	HP:0001257	Spasticity
103	ADAR	HP:0007441	Hyperpigmented/hypopigmented macules
103	ADAR	HP:0007374	Atrophy/Degeneration involving the caudate nucleus
103	ADAR	HP:0007340	Lower limb muscle weakness
103	ADAR	HP:0002514	Cerebral calcification
103	ADAR	HP:0002510	Spastic tetraplegia
103	ADAR	HP:0002505	Loss of ambulation
103	ADAR	HP:0001369	Arthritis
103	ADAR	HP:0000054	Micropenis
103	ADAR	HP:0001347	Hyperreflexia
103	ADAR	HP:0001357	Plagiocephaly
103	ADAR	HP:0001332	Dystonia
103	ADAR	HP:0000007	Autosomal recessive inheritance
103	ADAR	HP:0001337	Tremor
103	ADAR	HP:0000006	Autosomal dominant inheritance
103	ADAR	HP:0001336	Myoclonus
103	ADAR	HP:0001304	Torsion dystonia
103	ADAR	HP:0002650	Scoliosis
103	ADAR	HP:0007688	Undetectable light- and dark-adapted electroretinogram
103	ADAR	HP:0008947	Infantile muscular hypotonia
103	ADAR	HP:0008936	Axial hypotonia
103	ADAR	HP:0001433	Hepatosplenomegaly
103	ADAR	HP:0002020	Gastroesophageal reflux
103	ADAR	HP:0002015	Dysphagia
103	ADAR	HP:0002066	Gait ataxia
103	ADAR	HP:0002063	Rigidity
103	ADAR	HP:0002079	Hypoplasia of the corpus callosum
103	ADAR	HP:0002071	Abnormality of extrapyramidal motor function
103	ADAR	HP:0100578	Lipoatrophy
103	ADAR	HP:0002139	Arrhinencephaly
103	ADAR	HP:0003487	Babinski sign
103	ADAR	HP:0003484	Upper limb muscle weakness
103	ADAR	HP:0002119	Ventriculomegaly
103	ADAR	HP:0002132	Porencephalic cyst
103	ADAR	HP:0002187	Intellectual disability, profound
103	ADAR	HP:0002167	Abnormality of speech or vocalization
103	ADAR	HP:0011834	Moyamoya phenomenon
103	ADAR	HP:0003593	Infantile onset
103	ADAR	HP:0002273	Tetraparesis
103	ADAR	HP:0002240	Hepatomegaly
103	ADAR	HP:0003552	Muscle stiffness
103	ADAR	HP:0009709	Increased CSF interferon alpha
103	ADAR	HP:0009710	Chilblains
103	ADAR	HP:0009704	Chronic CSF lymphocytosis
103	ADAR	HP:0011968	Feeding difficulties
103	ADAR	HP:0004809	Neonatal alloimmune thrombocytopenia
103	ADAR	HP:0007076	Extrapyramidal muscular rigidity
103	ADAR	HP:0007052	Multifocal cerebral white matter abnormalities
103	ADAR	HP:0001063	Acrocyanosis
103	ADAR	HP:0002396	Cogwheel rigidity
103	ADAR	HP:0002359	Frequent falls
103	ADAR	HP:0002376	Developmental regression
103	ADAR	HP:0002371	Loss of speech
103	ADAR	HP:0002355	Difficulty walking
103	ADAR	HP:0002315	Headache
103	ADAR	HP:0002313	Spastic paraparesis
103	ADAR	HP:0100614	Myositis
103	ADAR	HP:0001087	Developmental glaucoma
103	ADAR	HP:0007108	Demyelinating peripheral neuropathy
103	ADAR	HP:0004963	Calcification of the aorta
103	ADAR	HP:0003623	Neonatal onset
103	ADAR	HP:0004942	Aortic aneurysm
103	ADAR	HP:0005550	Chronic lymphatic leukemia
103	ADAR	HP:0000639	Nystagmus
103	ADAR	HP:0000648	Optic atrophy
103	ADAR	HP:0001955	Unexplained fevers
103	ADAR	HP:0000625	Eyelid coloboma
103	ADAR	HP:0012697	Small basal ganglia
103	ADAR	HP:0011344	Severe global developmental delay
103	ADAR	HP:0004322	Short stature
103	ADAR	HP:0004374	Hemiplegia/hemiparesis
103	ADAR	HP:0006999	Basal ganglia gliosis
103	ADAR	HP:0012733	Macule
103	ADAR	HP:0000737	Irritability
103	ADAR	HP:0000750	Delayed speech and language development
103	ADAR	HP:0011463	Childhood onset
103	ADAR	HP:0012758	Neurodevelopmental delay
103	ADAR	HP:0011509	Macular hyperpigmentation
103	ADAR	HP:0000819	Diabetes mellitus
103	ADAR	HP:0000821	Hypothyroidism
103	ADAR	HP:0030880	Raynaud phenomenon
103	ADAR	HP:0000958	Dry skin
103	ADAR	HP:0000965	Cutis marmorata
103	ADAR	HP:0040140	Degeneration of the striatum
103	ADAR	HP:0002828	Multiple joint contractures
103	ADAR	HP:0012229	CSF pleocytosis
103	ADAR	HP:0000252	Microcephaly
103	ADAR	HP:0030038	Enchondroma
103	ADAR	HP:0001508	Failure to thrive
103	ADAR	HP:0001511	Intrauterine growth retardation
103	ADAR	HP:0007811	Horizontal pendular nystagmus
103	ADAR	HP:0006579	Prolonged neonatal jaundice
103	ADAR	HP:0001609	Hoarse voice
103	ADAR	HP:0002910	Elevated hepatic transaminase
103	ADAR	HP:0000369	Low-set ears
103	ADAR	HP:0002960	Autoimmunity
103	ADAR	HP:0001640	Cardiomegaly
103	ADAR	HP:0001639	Hypertrophic cardiomyopathy
103	ADAR	HP:0012490	Panniculitis
103	ADAR	HP:0007988	Macular hypopigmentation
103	ADAR	HP:0000496	Abnormality of eye movement
103	ADAR	HP:0012444	Brain atrophy
103	ADAR	HP:0000444	Convex nasal ridge
103	ADAR	HP:0001744	Splenomegaly
103	ADAR	HP:0006799	Basal ganglia cysts
103	ADAR	HP:0000508	Ptosis
103	ADAR	HP:0000501	Glaucoma
103	ADAR	HP:0030356	Increased circulating interferon-gamma concentration
103	ADAR	HP:0001878	Hemolytic anemia
103	ADAR	HP:0001873	Thrombocytopenia
104	ADARB1	HP:0009890	High anterior hairline
104	ADARB1	HP:0010880	Increased nuchal translucency
104	ADARB1	HP:0001290	Generalized hypotonia
104	ADARB1	HP:0001270	Motor delay
104	ADARB1	HP:0001250	Seizure
104	ADARB1	HP:0001249	Intellectual disability
104	ADARB1	HP:0001263	Global developmental delay
104	ADARB1	HP:0001257	Spasticity
104	ADARB1	HP:0001357	Plagiocephaly
104	ADARB1	HP:0001344	Absent speech
104	ADARB1	HP:0000007	Autosomal recessive inheritance
104	ADARB1	HP:0008936	Axial hypotonia
104	ADARB1	HP:0002079	Hypoplasia of the corpus callosum
104	ADARB1	HP:0002188	Delayed CNS myelination
104	ADARB1	HP:0100704	Cerebral visual impairment
104	ADARB1	HP:0011968	Feeding difficulties
104	ADARB1	HP:0007112	Temporal cortical atrophy
104	ADARB1	HP:0004322	Short stature
104	ADARB1	HP:0031936	Delayed ability to walk
104	ADARB1	HP:0012741	Unilateral cryptorchidism
104	ADARB1	HP:0003202	Skeletal muscle atrophy
104	ADARB1	HP:0000252	Microcephaly
104	ADARB1	HP:0000248	Brachycephaly
104	ADARB1	HP:0000219	Thin upper lip vermilion
104	ADARB1	HP:0000218	High palate
104	ADARB1	HP:0001561	Polyhydramnios
104	ADARB1	HP:0001601	Laryngomalacia
104	ADARB1	HP:0000311	Round face
104	ADARB1	HP:0000300	Oval face
104	ADARB1	HP:0011182	Interictal epileptiform activity
104	ADARB1	HP:0005487	Prominent metopic ridge
104	ADARB1	HP:0000582	Upslanted palpebral fissure
104	ADARB1	HP:0000577	Exotropia
107	ADCY1	HP:0000007	Autosomal recessive inheritance
107	ADCY1	HP:0000399	Prelingual sensorineural hearing impairment
109	ADCY3	HP:0001249	Intellectual disability
109	ADCY3	HP:0002591	Polyphagia
109	ADCY3	HP:0000007	Autosomal recessive inheritance
109	ADCY3	HP:0002155	Hypertriglyceridemia
109	ADCY3	HP:0003593	Infantile onset
109	ADCY3	HP:0031793	Increased serum leptin
109	ADCY3	HP:0003077	Hyperlipidemia
109	ADCY3	HP:0011463	Childhood onset
109	ADCY3	HP:0004409	Hyposmia
109	ADCY3	HP:0000855	Insulin resistance
109	ADCY3	HP:0000842	Hyperinsulinemia
109	ADCY3	HP:0001513	Obesity
109	ADCY3	HP:0000458	Anosmia
111	ADCY5	HP:0010864	Intellectual disability, severe
111	ADCY5	HP:0002421	Poor head control
111	ADCY5	HP:0001270	Motor delay
111	ADCY5	HP:0001288	Gait disturbance
111	ADCY5	HP:0001252	Hypotonia
111	ADCY5	HP:0001249	Intellectual disability
111	ADCY5	HP:0001266	Choreoathetosis
111	ADCY5	HP:0001260	Dysarthria
111	ADCY5	HP:0001263	Global developmental delay
111	ADCY5	HP:0002509	Limb hypertonia
111	ADCY5	HP:0003819	Death in childhood
111	ADCY5	HP:0025336	Delayed ability to sit
111	ADCY5	HP:0001347	Hyperreflexia
111	ADCY5	HP:0001332	Dystonia
111	ADCY5	HP:0033725	Thin corpus callosum
111	ADCY5	HP:0000007	Autosomal recessive inheritance
111	ADCY5	HP:0001337	Tremor
111	ADCY5	HP:0000006	Autosomal dominant inheritance
111	ADCY5	HP:0001336	Myoclonus
111	ADCY5	HP:0008936	Axial hypotonia
111	ADCY5	HP:0003324	Generalized muscle weakness
111	ADCY5	HP:0002072	Chorea
111	ADCY5	HP:0100595	Camptocormia
111	ADCY5	HP:0002194	Delayed gross motor development
111	ADCY5	HP:0003593	Infantile onset
111	ADCY5	HP:0002365	Hypoplasia of the brainstem
111	ADCY5	HP:0002359	Frequent falls
111	ADCY5	HP:0002342	Intellectual disability, moderate
111	ADCY5	HP:0002355	Difficulty walking
111	ADCY5	HP:0002322	Resting tremor
111	ADCY5	HP:0100660	Dyskinesia
111	ADCY5	HP:0007166	Paroxysmal dyskinesia
111	ADCY5	HP:0002310	Orofacial dyskinesia
111	ADCY5	HP:0003621	Juvenile onset
111	ADCY5	HP:0004305	Involuntary movements
111	ADCY5	HP:0031936	Delayed ability to walk
111	ADCY5	HP:0100022	Abnormality of movement
111	ADCY5	HP:0000739	Anxiety
111	ADCY5	HP:0000750	Delayed speech and language development
111	ADCY5	HP:0000713	Agitation
111	ADCY5	HP:0000821	Hypothyroidism
111	ADCY5	HP:0001508	Failure to thrive
111	ADCY5	HP:0000317	Facial myokymia
111	ADCY5	HP:0001644	Dilated cardiomyopathy
111	ADCY5	HP:0001635	Congestive heart failure
111	ADCY5	HP:0001638	Cardiomyopathy
111	ADCY5	HP:0032989	Delayed ability to roll over
111	ADCY5	HP:0000467	Neck muscle weakness
112	ADCY6	HP:0001290	Generalized hypotonia
112	ADCY6	HP:0001284	Areflexia
112	ADCY6	HP:0001252	Hypotonia
112	ADCY6	HP:0001376	Limitation of joint mobility
112	ADCY6	HP:0001371	Flexion contracture
112	ADCY6	HP:0001349	Facial diplegia
112	ADCY6	HP:0000007	Autosomal recessive inheritance
112	ADCY6	HP:0001315	Reduced tendon reflexes
112	ADCY6	HP:0002098	Respiratory distress
112	ADCY6	HP:0003457	EMG abnormality
112	ADCY6	HP:0200136	Oral-pharyngeal dysphagia
112	ADCY6	HP:0002804	Arthrogryposis multiplex congenita
112	ADCY6	HP:0001561	Polyhydramnios
118	ADD1	HP:0001426	Multifactorial inheritance
118	ADD1	HP:0004972	Elevated mean arterial pressure
118	ADD1	HP:0004421	Elevated systolic blood pressure
118	ADD1	HP:0005117	Elevated diastolic blood pressure
120	ADD3	HP:0007256	Abnormal pyramidal sign
120	ADD3	HP:0001250	Seizure
120	ADD3	HP:0001264	Spastic diplegia
120	ADD3	HP:0001260	Dysarthria
120	ADD3	HP:0001263	Global developmental delay
120	ADD3	HP:0001257	Spasticity
120	ADD3	HP:0003828	Variable expressivity
120	ADD3	HP:0002510	Spastic tetraplegia
120	ADD3	HP:0000007	Autosomal recessive inheritance
120	ADD3	HP:0002015	Dysphagia
120	ADD3	HP:0100543	Cognitive impairment
120	ADD3	HP:0003593	Infantile onset
120	ADD3	HP:0002282	Gray matter heterotopia
120	ADD3	HP:0000639	Nystagmus
120	ADD3	HP:0000605	Supranuclear gaze palsy
120	ADD3	HP:0000750	Delayed speech and language development
120	ADD3	HP:0000252	Microcephaly
120	ADD3	HP:0000486	Strabismus
120	ADD3	HP:0025711	Convergence-retraction nystagmus
120	ADD3	HP:0000577	Exotropia
125	ADH1B	HP:0001426	Multifactorial inheritance
125	ADH1B	HP:0030955	Alcoholism
126	ADH1C	HP:0007311	Short stepped shuffling gait
126	ADH1C	HP:0003745	Sporadic
126	ADH1C	HP:0001260	Dysarthria
126	ADH1C	HP:0002529	Neuronal loss in central nervous system
126	ADH1C	HP:0001332	Dystonia
126	ADH1C	HP:0000012	Urinary urgency
126	ADH1C	HP:0001337	Tremor
126	ADH1C	HP:0000006	Autosomal dominant inheritance
126	ADH1C	HP:0001300	Parkinsonism
126	ADH1C	HP:0001426	Multifactorial inheritance
126	ADH1C	HP:0002019	Constipation
126	ADH1C	HP:0002015	Dysphagia
126	ADH1C	HP:0002067	Bradykinesia
126	ADH1C	HP:0002063	Rigidity
126	ADH1C	HP:0030955	Alcoholism
126	ADH1C	HP:0002172	Postural instability
126	ADH1C	HP:0003587	Insidious onset
126	ADH1C	HP:0003584	Late onset
126	ADH1C	HP:0003581	Adult onset
126	ADH1C	HP:0011960	Substantia nigra gliosis
126	ADH1C	HP:0002360	Sleep disturbance
126	ADH1C	HP:0003676	Progressive
126	ADH1C	HP:0002322	Resting tremor
126	ADH1C	HP:0031908	Micrographia
126	ADH1C	HP:0000751	Personality changes
126	ADH1C	HP:0000738	Hallucinations
126	ADH1C	HP:0000716	Depression
126	ADH1C	HP:0000726	Dementia
126	ADH1C	HP:0100315	Lewy bodies
126	ADH1C	HP:0000298	Mask-like facies
126	ADH1C	HP:0012332	Abnormal autonomic nervous system physiology
126	ADH1C	HP:0001621	Weak voice
128	ADH5	HP:0001249	Intellectual disability
128	ADH5	HP:0010984	Digenic inheritance
128	ADH5	HP:0000013	Hypoplasia of the uterus
128	ADH5	HP:0032524	Long thumb
128	ADH5	HP:0007018	Attention deficit hyperactivity disorder
128	ADH5	HP:0004808	Acute myeloid leukemia
128	ADH5	HP:0005528	Bone marrow hypocellularity
128	ADH5	HP:0001903	Anemia
128	ADH5	HP:0004322	Short stature
128	ADH5	HP:0000729	Autistic behavior
128	ADH5	HP:0000835	Adrenal hypoplasia
128	ADH5	HP:0000953	Hyperpigmentation of the skin
128	ADH5	HP:0033044	Motor regression
128	ADH5	HP:0000268	Dolichocephaly
128	ADH5	HP:0000252	Microcephaly
128	ADH5	HP:0002863	Myelodysplasia
128	ADH5	HP:0001508	Failure to thrive
128	ADH5	HP:0005301	Persistent left superior vena cava
128	ADH5	HP:0000506	Telecanthus
128	ADH5	HP:0001882	Leukopenia
128	ADH5	HP:0001873	Thrombocytopenia
132	ADK	HP:0002465	Poor speech
132	ADK	HP:0001250	Seizure
132	ADK	HP:0001252	Hypotonia
132	ADK	HP:0500210	Increased CSF methionine concentration
132	ADK	HP:0001397	Hepatic steatosis
132	ADK	HP:0001396	Cholestasis
132	ADK	HP:0001324	Muscle weakness
132	ADK	HP:0000007	Autosomal recessive inheritance
132	ADK	HP:0002007	Frontal bossing
132	ADK	HP:0002059	Cerebral atrophy
132	ADK	HP:0008151	Prolonged prothrombin time
132	ADK	HP:0003593	Infantile onset
132	ADK	HP:0003676	Progressive
132	ADK	HP:0010841	Multifocal epileptiform discharges
132	ADK	HP:0003623	Neonatal onset
132	ADK	HP:0011344	Severe global developmental delay
132	ADK	HP:0031964	Elevated circulating alanine aminotransferase concentration
132	ADK	HP:0012736	Profound global developmental delay
132	ADK	HP:0000750	Delayed speech and language development
132	ADK	HP:0003235	Hypermethioninemia
132	ADK	HP:0003236	Elevated circulating creatine kinase concentration
132	ADK	HP:0003202	Skeletal muscle atrophy
132	ADK	HP:0000256	Macrocephaly
132	ADK	HP:0001508	Failure to thrive
132	ADK	HP:0006580	Portal fibrosis
132	ADK	HP:0002904	Hyperbilirubinemia
132	ADK	HP:0001684	Secundum atrial septal defect
132	ADK	HP:0001680	Coarctation of aorta
132	ADK	HP:0000316	Hypertelorism
132	ADK	HP:0001642	Pulmonic stenosis
132	ADK	HP:0000407	Sensorineural hearing impairment
132	ADK	HP:0001786	Narrow foot
135	ADORA2A	HP:0032308	Increased circulating procalcitonin concentration
135	ADORA2A	HP:0002069	Bilateral tonic-clonic seizure
135	ADORA2A	HP:0033349	Seizure cluster
135	ADORA2A	HP:0007103	Hypointensity of cerebral white matter on MRI
135	ADORA2A	HP:0007185	Loss of consciousness
135	ADORA2A	HP:0012705	Abnormal metabolic brain imaging by MRS
135	ADORA2A	HP:0011665	Takotsubo cardiomyopathy
135	ADORA2A	HP:0007738	Uncontrolled eye movements
135	ADORA2A	HP:0031475	Status epilepticus without prominent motor symptoms
135	ADORA2A	HP:0011172	Complex febrile seizure
135	ADORA2A	HP:0032894	Seizure precipitated by febrile infection
135	ADORA2A	HP:0031691	Severe viral infection
151	ADRA2B	HP:0001249	Intellectual disability
151	ADRA2B	HP:0007359	Focal-onset seizure
151	ADRA2B	HP:0001336	Myoclonus
151	ADRA2B	HP:0100576	Amaurosis fugax
151	ADRA2B	HP:0002197	Generalized-onset seizure
151	ADRA2B	HP:0002378	Hand tremor
151	ADRA2B	HP:0002353	EEG abnormality
151	ADRA2B	HP:0002315	Headache
153	ADRB1	HP:0000006	Autosomal dominant inheritance
153	ADRB1	HP:0033063	Shortened sleep cycle
154	ADRB2	HP:0010982	Polygenic inheritance
154	ADRB2	HP:0000007	Autosomal recessive inheritance
154	ADRB2	HP:0000006	Autosomal dominant inheritance
154	ADRB2	HP:0001426	Multifactorial inheritance
154	ADRB2	HP:0002099	Asthma
154	ADRB2	HP:4000007	Bronchoconstriction
154	ADRB2	HP:0031819	Increased waist to hip ratio
154	ADRB2	HP:0001513	Obesity
154	ADRB2	HP:0012340	Decreased resting energy expenditure
154	ADRB2	HP:0032933	Airway hyperresponsiveness
155	ADRB3	HP:0010982	Polygenic inheritance
155	ADRB3	HP:0000007	Autosomal recessive inheritance
155	ADRB3	HP:0000006	Autosomal dominant inheritance
155	ADRB3	HP:0031819	Increased waist to hip ratio
155	ADRB3	HP:0001513	Obesity
155	ADRB3	HP:0012340	Decreased resting energy expenditure
158	ADSL	HP:0001290	Generalized hypotonia
158	ADSL	HP:0001272	Cerebellar atrophy
158	ADSL	HP:0001250	Seizure
158	ADSL	HP:0001252	Hypotonia
158	ADSL	HP:0001249	Intellectual disability
158	ADSL	HP:0001263	Global developmental delay
158	ADSL	HP:0001257	Spasticity
158	ADSL	HP:0002540	Inability to walk
158	ADSL	HP:0001348	Brisk reflexes
158	ADSL	HP:0001344	Absent speech
158	ADSL	HP:0000007	Autosomal recessive inheritance
158	ADSL	HP:0001336	Myoclonus
158	ADSL	HP:0000154	Wide mouth
158	ADSL	HP:0002066	Gait ataxia
158	ADSL	HP:0002059	Cerebral atrophy
158	ADSL	HP:0003429	CNS hypomyelination
158	ADSL	HP:0002179	Opisthotonus
158	ADSL	HP:0003593	Infantile onset
158	ADSL	HP:0003577	Congenital onset
158	ADSL	HP:0007103	Hypointensity of cerebral white matter on MRI
158	ADSL	HP:0002301	Hemiplegia
158	ADSL	HP:0003623	Neonatal onset
158	ADSL	HP:0006808	Cerebral hypomyelination
158	ADSL	HP:0000639	Nystagmus
158	ADSL	HP:0011344	Severe global developmental delay
158	ADSL	HP:0001999	Abnormal facial shape
158	ADSL	HP:0000752	Hyperactivity
158	ADSL	HP:0000750	Delayed speech and language development
158	ADSL	HP:0000748	Inappropriate laughter
158	ADSL	HP:0000742	Self-mutilation
158	ADSL	HP:0000718	Aggressive behavior
158	ADSL	HP:0000717	Autism
158	ADSL	HP:0003196	Short nose
158	ADSL	HP:0040082	Happy demeanor
158	ADSL	HP:0003202	Skeletal muscle atrophy
158	ADSL	HP:0000252	Microcephaly
158	ADSL	HP:0000248	Brachycephaly
158	ADSL	HP:0000219	Thin upper lip vermilion
158	ADSL	HP:0001510	Growth delay
158	ADSL	HP:0000369	Low-set ears
158	ADSL	HP:0000343	Long philtrum
158	ADSL	HP:0000319	Smooth philtrum
158	ADSL	HP:0000486	Strabismus
158	ADSL	HP:0000463	Anteverted nares
158	ADSL	HP:0005487	Prominent metopic ridge
158	ADSL	HP:0005469	Flat occiput
162	AP1B1	HP:0001249	Intellectual disability
162	AP1B1	HP:0001263	Global developmental delay
162	AP1B1	HP:0001394	Cirrhosis
162	AP1B1	HP:0000007	Autosomal recessive inheritance
162	AP1B1	HP:0001406	Intrahepatic cholestasis
162	AP1B1	HP:0030948	Elevated gamma-glutamyltransferase level
162	AP1B1	HP:0002059	Cerebral atrophy
162	AP1B1	HP:0003577	Congenital onset
162	AP1B1	HP:0002242	Abnormal intestine morphology
162	AP1B1	HP:0011967	Decreased circulating copper concentration
162	AP1B1	HP:0001019	Erythroderma
162	AP1B1	HP:0010837	Decreased circulating ceruloplasmin concentration
162	AP1B1	HP:0009830	Peripheral neuropathy
162	AP1B1	HP:0000633	Decreased lacrimation
162	AP1B1	HP:0000613	Photophobia
162	AP1B1	HP:0004322	Short stature
162	AP1B1	HP:0003073	Hypoalbuminemia
162	AP1B1	HP:0000982	Palmoplantar keratoderma
162	AP1B1	HP:0000962	Hyperkeratosis
162	AP1B1	HP:0008070	Sparse hair
162	AP1B1	HP:0008064	Ichthyosis
162	AP1B1	HP:0001596	Alopecia
162	AP1B1	HP:0012202	Increased serum bile acid concentration
162	AP1B1	HP:0001508	Failure to thrive
162	AP1B1	HP:0002910	Elevated hepatic transaminase
162	AP1B1	HP:0000407	Sensorineural hearing impairment
162	AP1B1	HP:0000509	Conjunctivitis
162	AP1B1	HP:0001808	Fragile nails
162	AP1B1	HP:0000563	Keratoconus
162	AP1B1	HP:0000545	Myopia
164	AP1G1	HP:0001274	Agenesis of corpus callosum
164	AP1G1	HP:0001250	Seizure
164	AP1G1	HP:0001252	Hypotonia
164	AP1G1	HP:0001249	Intellectual disability
164	AP1G1	HP:0001263	Global developmental delay
164	AP1G1	HP:0001257	Spasticity
164	AP1G1	HP:0001388	Joint laxity
164	AP1G1	HP:0000007	Autosomal recessive inheritance
164	AP1G1	HP:0000006	Autosomal dominant inheritance
164	AP1G1	HP:0004691	2-3 toe syndactyly
164	AP1G1	HP:0002007	Frontal bossing
164	AP1G1	HP:0004626	Lumbar scoliosis
164	AP1G1	HP:0030953	Conjunctival hyperemia
164	AP1G1	HP:0100716	Self-injurious behavior
164	AP1G1	HP:0004209	Clinodactyly of the 5th finger
164	AP1G1	HP:0000646	Amblyopia
164	AP1G1	HP:0000752	Hyperactivity
164	AP1G1	HP:0000767	Pectus excavatum
164	AP1G1	HP:0000768	Pectus carinatum
164	AP1G1	HP:0000739	Anxiety
164	AP1G1	HP:0000750	Delayed speech and language development
164	AP1G1	HP:0000716	Depression
164	AP1G1	HP:0000718	Aggressive behavior
164	AP1G1	HP:0000729	Autistic behavior
164	AP1G1	HP:0012803	Anisometropia
164	AP1G1	HP:0030820	Hooded eyelid
164	AP1G1	HP:0009381	Short finger
164	AP1G1	HP:0000286	Epicanthus
164	AP1G1	HP:0000262	Turricephaly
164	AP1G1	HP:0000218	High palate
164	AP1G1	HP:0002938	Lumbar hyperlordosis
164	AP1G1	HP:0002942	Thoracic kyphosis
164	AP1G1	HP:0000358	Posteriorly rotated ears
164	AP1G1	HP:0000369	Low-set ears
164	AP1G1	HP:0000343	Long philtrum
164	AP1G1	HP:0000336	Prominent supraorbital ridges
164	AP1G1	HP:0000316	Hypertelorism
164	AP1G1	HP:0000486	Strabismus
164	AP1G1	HP:0001763	Pes planus
164	AP1G1	HP:0011220	Prominent forehead
164	AP1G1	HP:0000565	Esotropia
165	AEBP1	HP:0001166	Arachnodactyly
165	AEBP1	HP:0009938	Sunken cheeks
165	AEBP1	HP:0001270	Motor delay
165	AEBP1	HP:0025232	Bursitis
165	AEBP1	HP:0001252	Hypotonia
165	AEBP1	HP:0001263	Global developmental delay
165	AEBP1	HP:0003834	Shoulder dislocation
165	AEBP1	HP:0001373	Joint dislocation
165	AEBP1	HP:0001382	Joint hypermobility
165	AEBP1	HP:0000023	Inguinal hernia
165	AEBP1	HP:0000028	Cryptorchidism
165	AEBP1	HP:0031158	Widened atrophic scar
165	AEBP1	HP:0007495	Prematurely aged appearance
165	AEBP1	HP:0007457	Prominent veins on trunk
165	AEBP1	HP:0003994	Dislocated wrist
165	AEBP1	HP:0000007	Autosomal recessive inheritance
165	AEBP1	HP:0002619	Varicose veins
165	AEBP1	HP:0002616	Aortic root aneurysm
165	AEBP1	HP:0000189	Narrow palate
165	AEBP1	HP:0001488	Bilateral ptosis
165	AEBP1	HP:0006243	Phalangeal dislocation
165	AEBP1	HP:0002761	Generalized joint laxity
165	AEBP1	HP:0002758	Osteoarthritis
165	AEBP1	HP:0002751	Kyphoscoliosis
165	AEBP1	HP:0100546	Carotid artery stenosis
165	AEBP1	HP:0008138	Equinus calcaneus
165	AEBP1	HP:0004602	Cervical C2/C3 vertebral fusion
165	AEBP1	HP:0002155	Hypertriglyceridemia
165	AEBP1	HP:0002162	Low posterior hairline
165	AEBP1	HP:0003593	Infantile onset
165	AEBP1	HP:0001058	Poor wound healing
165	AEBP1	HP:0001015	Prominent superficial veins
165	AEBP1	HP:0004976	Knee dislocation
165	AEBP1	HP:0100658	Cellulitis
165	AEBP1	HP:0010829	Impaired temperature sensation
165	AEBP1	HP:0010810	Long uvula
165	AEBP1	HP:0001097	Keratoconjunctivitis sicca
165	AEBP1	HP:0001075	Atrophic scars
165	AEBP1	HP:0000692	Tooth malposition
165	AEBP1	HP:0001999	Abnormal facial shape
165	AEBP1	HP:0003042	Elbow dislocation
165	AEBP1	HP:0000767	Pectus excavatum
165	AEBP1	HP:0000704	Periodontitis
165	AEBP1	HP:0011463	Childhood onset
165	AEBP1	HP:0003177	Squared iliac bones
165	AEBP1	HP:0000819	Diabetes mellitus
165	AEBP1	HP:0030871	Facet joint arthrosis
165	AEBP1	HP:0045074	Thin eyebrow
165	AEBP1	HP:0000978	Bruising susceptibility
165	AEBP1	HP:0000974	Hyperextensible skin
165	AEBP1	HP:0000987	Atypical scarring of skin
165	AEBP1	HP:0000960	Sacral dimple
165	AEBP1	HP:0000939	Osteoporosis
165	AEBP1	HP:0000938	Osteopenia
165	AEBP1	HP:0001596	Alopecia
165	AEBP1	HP:0006439	Radioulnar dislocation
165	AEBP1	HP:0002827	Hip dislocation
165	AEBP1	HP:0002808	Kyphosis
165	AEBP1	HP:0001582	Redundant skin
165	AEBP1	HP:0000218	High palate
165	AEBP1	HP:0025509	Piezogenic pedal papules
165	AEBP1	HP:0001537	Umbilical hernia
165	AEBP1	HP:0002933	Ventral hernia
165	AEBP1	HP:0002943	Thoracic scoliosis
165	AEBP1	HP:0006480	Premature loss of teeth
165	AEBP1	HP:0001698	Pericardial effusion
165	AEBP1	HP:0000347	Micrognathia
165	AEBP1	HP:0001634	Mitral valve prolapse
165	AEBP1	HP:0000400	Macrotia
165	AEBP1	HP:0000483	Astigmatism
165	AEBP1	HP:0000486	Strabismus
165	AEBP1	HP:0000470	Short neck
165	AEBP1	HP:0000465	Webbed neck
165	AEBP1	HP:0001763	Pes planus
165	AEBP1	HP:0001765	Hammertoe
165	AEBP1	HP:0001780	Abnormal toe morphology
165	AEBP1	HP:0001760	Abnormal foot morphology
165	AEBP1	HP:0001852	Sandal gap
165	AEBP1	HP:0001822	Hallux valgus
165	AEBP1	HP:0000508	Ptosis
165	AEBP1	HP:0000545	Myopia
174	AFP	HP:0000007	Autosomal recessive inheritance
174	AFP	HP:0000006	Autosomal dominant inheritance
174	AFP	HP:0006254	Elevated circulating alpha-fetoprotein concentration
174	AFP	HP:0045057	Decreased circulating alpha-fetoprotein concentration
175	AGA	HP:0008551	Microtia
175	AGA	HP:0001290	Generalized hypotonia
175	AGA	HP:0001250	Seizure
175	AGA	HP:0001252	Hypotonia
175	AGA	HP:0001249	Intellectual disability
175	AGA	HP:0001257	Spasticity
175	AGA	HP:0012068	Aspartylglucosaminuria
175	AGA	HP:0001369	Arthritis
175	AGA	HP:0001388	Joint laxity
175	AGA	HP:0001387	Joint stiffness
175	AGA	HP:0000053	Macroorchidism
175	AGA	HP:0000023	Inguinal hernia
175	AGA	HP:0002684	Thickened calvaria
175	AGA	HP:0000007	Autosomal recessive inheritance
175	AGA	HP:0002650	Scoliosis
175	AGA	HP:0000179	Thick lower lip vermilion
175	AGA	HP:0000164	Abnormality of the dentition
175	AGA	HP:0000158	Macroglossia
175	AGA	HP:0000154	Wide mouth
175	AGA	HP:0002756	Pathologic fracture
175	AGA	HP:0002738	Hypoplastic frontal sinuses
175	AGA	HP:0002750	Delayed skeletal maturation
175	AGA	HP:0002024	Malabsorption
175	AGA	HP:0002014	Diarrhea
175	AGA	HP:0003304	Spondylolysis
175	AGA	HP:0003302	Spondylolisthesis
175	AGA	HP:0002059	Cerebral atrophy
175	AGA	HP:0003468	Abnormal vertebral morphology
175	AGA	HP:0002167	Abnormality of speech or vocalization
175	AGA	HP:0002240	Hepatomegaly
175	AGA	HP:0002205	Recurrent respiratory infections
175	AGA	HP:0100790	Hernia
175	AGA	HP:0100729	Large face
175	AGA	HP:0001061	Acne
175	AGA	HP:0002360	Sleep disturbance
175	AGA	HP:0002376	Developmental regression
175	AGA	HP:0100660	Dyskinesia
175	AGA	HP:0001071	Angiokeratoma corporis diffusum
175	AGA	HP:0008430	Anterior beaking of lumbar vertebrae
175	AGA	HP:0032198	Decreased prothrombin time
175	AGA	HP:0001922	Vacuolated lymphocytes
175	AGA	HP:0001939	Abnormality of metabolism/homeostasis
175	AGA	HP:0000670	Carious teeth
175	AGA	HP:0001999	Abnormal facial shape
175	AGA	HP:0004322	Short stature
175	AGA	HP:0004337	Abnormality of amino acid metabolism
175	AGA	HP:0000768	Pectus carinatum
175	AGA	HP:0000750	Delayed speech and language development
175	AGA	HP:0000708	Atypical behavior
175	AGA	HP:0011463	Childhood onset
175	AGA	HP:0003103	Abnormal cortical bone morphology
175	AGA	HP:0003196	Short nose
175	AGA	HP:0000926	Platyspondyly
175	AGA	HP:0040071	Abnormal morphology of ulna
175	AGA	HP:0004568	Beaking of vertebral bodies
175	AGA	HP:0000943	Dysostosis multiplex
175	AGA	HP:0000283	Broad face
175	AGA	HP:0000280	Coarse facial features
175	AGA	HP:0002808	Kyphosis
175	AGA	HP:0000252	Microcephaly
175	AGA	HP:0000248	Brachycephaly
175	AGA	HP:0000212	Gingival overgrowth
175	AGA	HP:0001537	Umbilical hernia
175	AGA	HP:0000389	Chronic otitis media
175	AGA	HP:0001609	Hoarse voice
175	AGA	HP:0000316	Hypertelorism
175	AGA	HP:0001653	Mitral regurgitation
175	AGA	HP:0000303	Mandibular prognathia
175	AGA	HP:0005280	Depressed nasal bridge
175	AGA	HP:0012471	Thick vermilion border
175	AGA	HP:0000463	Anteverted nares
175	AGA	HP:0001763	Pes planus
175	AGA	HP:0001744	Splenomegaly
175	AGA	HP:0000431	Wide nasal bridge
175	AGA	HP:0011276	Vascular skin abnormality
175	AGA	HP:0000518	Cataract
175	AGA	HP:0001875	Neutropenia
176	ACAN	HP:0001156	Brachydactyly
176	ACAN	HP:0007281	Developmental stagnation
176	ACAN	HP:0010886	Osteochondritis dissecans
176	ACAN	HP:0002515	Waddling gait
176	ACAN	HP:0001388	Joint laxity
176	ACAN	HP:0008843	Hip osteoarthritis
176	ACAN	HP:0002655	Spondyloepiphyseal dysplasia
176	ACAN	HP:0000007	Autosomal recessive inheritance
176	ACAN	HP:0000006	Autosomal dominant inheritance
176	ACAN	HP:0002651	Spondyloepimetaphyseal dysplasia
176	ACAN	HP:0008905	Rhizomelia
176	ACAN	HP:0025428	Bronchospasm
176	ACAN	HP:0002795	Abnormal respiratory system physiology
176	ACAN	HP:0002758	Osteoarthritis
176	ACAN	HP:0002750	Delayed skeletal maturation
176	ACAN	HP:0002007	Frontal bossing
176	ACAN	HP:0011800	Midface retrusion
176	ACAN	HP:0003370	Flat capital femoral epiphysis
176	ACAN	HP:0005930	Abnormal epiphysis morphology
176	ACAN	HP:0010582	Irregular epiphyses
176	ACAN	HP:0100777	Exostoses
176	ACAN	HP:0003508	Proportionate short stature
176	ACAN	HP:0009778	Short thumb
176	ACAN	HP:0010055	Broad hallux
176	ACAN	HP:0011304	Broad thumb
176	ACAN	HP:0004322	Short stature
176	ACAN	HP:0005616	Accelerated skeletal maturation
176	ACAN	HP:0003016	Metaphyseal widening
176	ACAN	HP:0003027	Mesomelia
176	ACAN	HP:0000924	Abnormality of the skeletal system
176	ACAN	HP:0000926	Platyspondyly
176	ACAN	HP:0004482	Relative macrocephaly
176	ACAN	HP:0010306	Short thorax
176	ACAN	HP:0009381	Short finger
176	ACAN	HP:0001597	Abnormality of the nail
176	ACAN	HP:0000272	Malar flattening
176	ACAN	HP:0001552	Barrel-shaped chest
176	ACAN	HP:0002857	Genu valgum
176	ACAN	HP:0001507	Growth abnormality
176	ACAN	HP:0001609	Hoarse voice
176	ACAN	HP:0002938	Lumbar hyperlordosis
176	ACAN	HP:0000358	Posteriorly rotated ears
176	ACAN	HP:0000369	Low-set ears
176	ACAN	HP:0000368	Low-set, posteriorly rotated ears
176	ACAN	HP:0002983	Micromelia
176	ACAN	HP:0002970	Genu varum
176	ACAN	HP:0000303	Mandibular prognathia
176	ACAN	HP:0005285	Absent nasal bridge
176	ACAN	HP:0005280	Depressed nasal bridge
176	ACAN	HP:0000470	Short neck
178	AGL	HP:0001256	Intellectual disability, mild
178	AGL	HP:0001395	Hepatic fibrosis
178	AGL	HP:0001324	Muscle weakness
178	AGL	HP:0000007	Autosomal recessive inheritance
178	AGL	HP:0002721	Immunodeficiency
178	AGL	HP:0011800	Midface retrusion
178	AGL	HP:0002155	Hypertriglyceridemia
178	AGL	HP:0002240	Hepatomegaly
178	AGL	HP:0003693	Distal amyotrophy
178	AGL	HP:0001943	Hypoglycemia
178	AGL	HP:0004322	Short stature
178	AGL	HP:0003077	Hyperlipidemia
178	AGL	HP:0003198	Myopathy
178	AGL	HP:0003236	Elevated circulating creatine kinase concentration
178	AGL	HP:0000293	Full cheeks
178	AGL	HP:0000272	Malar flattening
178	AGL	HP:0000219	Thin upper lip vermilion
178	AGL	HP:0000233	Thin vermilion border
178	AGL	HP:0002910	Elevated hepatic transaminase
178	AGL	HP:0001638	Cardiomyopathy
178	AGL	HP:0001714	Ventricular hypertrophy
178	AGL	HP:0005280	Depressed nasal bridge
178	AGL	HP:0000490	Deeply set eye
178	AGL	HP:0000455	Broad nasal tip
181	AGRP	HP:0010982	Polygenic inheritance
181	AGRP	HP:0000007	Autosomal recessive inheritance
181	AGRP	HP:0000006	Autosomal dominant inheritance
181	AGRP	HP:0031819	Increased waist to hip ratio
181	AGRP	HP:0001513	Obesity
181	AGRP	HP:0012340	Decreased resting energy expenditure
182	JAG1	HP:0001156	Brachydactyly
182	JAG1	HP:0002460	Distal muscle weakness
182	JAG1	HP:0003774	Stage 5 chronic kidney disease
182	JAG1	HP:0008659	Multiple small medullary renal cysts
182	JAG1	HP:0007328	Impaired pain sensation
182	JAG1	HP:0009891	Underdeveloped supraorbital ridges
182	JAG1	HP:0009882	Short distal phalanx of finger
182	JAG1	HP:0001297	Stroke
182	JAG1	HP:0001284	Areflexia
182	JAG1	HP:0001256	Intellectual disability, mild
182	JAG1	HP:0001252	Hypotonia
182	JAG1	HP:0002522	Areflexia of lower limbs
182	JAG1	HP:0003829	Typified by incomplete penetrance
182	JAG1	HP:0000089	Renal hypoplasia
182	JAG1	HP:0000081	Duplicated collecting system
182	JAG1	HP:0000097	Focal segmental glomerulosclerosis
182	JAG1	HP:0001396	Cholestasis
182	JAG1	HP:0001399	Hepatic failure
182	JAG1	HP:0001394	Cirrhosis
182	JAG1	HP:0000076	Vesicoureteral reflux
182	JAG1	HP:0012046	Areflexia of upper limbs
182	JAG1	HP:0000028	Cryptorchidism
182	JAG1	HP:0001328	Specific learning disability
182	JAG1	HP:0001337	Tremor
182	JAG1	HP:0000006	Autosomal dominant inheritance
182	JAG1	HP:0002650	Scoliosis
182	JAG1	HP:0031108	Triceps weakness
182	JAG1	HP:0001492	Axenfeld anomaly
182	JAG1	HP:0008954	Intrinsic hand muscle atrophy
182	JAG1	HP:0000110	Renal dysplasia
182	JAG1	HP:0001402	Hepatocellular carcinoma
182	JAG1	HP:0002751	Kyphoscoliosis
182	JAG1	HP:0002015	Dysphagia
182	JAG1	HP:0002007	Frontal bossing
182	JAG1	HP:0004617	Butterfly vertebral arch
182	JAG1	HP:0003392	First dorsal interossei muscle weakness
182	JAG1	HP:0002076	Migraine
182	JAG1	HP:0002155	Hypertriglyceridemia
182	JAG1	HP:0003593	Infantile onset
182	JAG1	HP:0003577	Congenital onset
182	JAG1	HP:0100759	Clubbing of fingers
182	JAG1	HP:0002380	Fasciculations
182	JAG1	HP:0003687	Centrally nucleated skeletal muscle fibers
182	JAG1	HP:0010829	Impaired temperature sensation
182	JAG1	HP:0004969	Peripheral pulmonary artery stenosis
182	JAG1	HP:0004209	Clinodactyly of the 5th finger
182	JAG1	HP:0006886	Impaired distal vibration sensation
182	JAG1	HP:0001947	Renal tubular acidosis
182	JAG1	HP:0000627	Posterior embryotoxon
182	JAG1	HP:0001920	Renal artery stenosis
182	JAG1	HP:0011344	Severe global developmental delay
182	JAG1	HP:0009027	Foot dorsiflexor weakness
182	JAG1	HP:0031986	Polyminimyoclonus
182	JAG1	HP:0031936	Delayed ability to walk
182	JAG1	HP:0003022	Hypoplasia of the ulna
182	JAG1	HP:0000772	Abnormal rib morphology
182	JAG1	HP:0000750	Delayed speech and language development
182	JAG1	HP:0011463	Childhood onset
182	JAG1	HP:0003124	Hypercholesterolemia
182	JAG1	HP:0003189	Long nose
182	JAG1	HP:0004467	Preauricular pit
182	JAG1	HP:0010307	Stridor
182	JAG1	HP:0000969	Edema
182	JAG1	HP:0000268	Dolichocephaly
182	JAG1	HP:0005105	Abnormal nasal morphology
182	JAG1	HP:0002895	Papillary thyroid carcinoma
182	JAG1	HP:0000233	Thin vermilion border
182	JAG1	HP:0001508	Failure to thrive
182	JAG1	HP:0001511	Intrauterine growth retardation
182	JAG1	HP:0006571	Reduced number of intrahepatic bile ducts
182	JAG1	HP:0006579	Prolonged neonatal jaundice
182	JAG1	HP:0002937	Hemivertebrae
182	JAG1	HP:0001604	Vocal cord paresis
182	JAG1	HP:0002910	Elevated hepatic transaminase
182	JAG1	HP:0000369	Low-set ears
182	JAG1	HP:0000337	Broad forehead
182	JAG1	HP:0001680	Coarctation of aorta
182	JAG1	HP:0000316	Hypertelorism
182	JAG1	HP:0000325	Triangular face
182	JAG1	HP:0001629	Ventricular septal defect
182	JAG1	HP:0030166	Night sweats
182	JAG1	HP:0001636	Tetralogy of Fallot
182	JAG1	HP:0001631	Atrial septal defect
182	JAG1	HP:0031629	Impaired tandem gait
182	JAG1	HP:0001738	Exocrine pancreatic insufficiency
182	JAG1	HP:0000407	Sensorineural hearing impairment
182	JAG1	HP:0000400	Macrotia
182	JAG1	HP:0005280	Depressed nasal bridge
182	JAG1	HP:0000486	Strabismus
182	JAG1	HP:0000482	Microcornea
182	JAG1	HP:0000490	Deeply set eye
182	JAG1	HP:0011120	Concave nasal ridge
182	JAG1	HP:0001751	Abnormal vestibular function
182	JAG1	HP:0000414	Bulbous nose
182	JAG1	HP:0001761	Pes cavus
182	JAG1	HP:0000518	Cataract
182	JAG1	HP:0000520	Proptosis
182	JAG1	HP:0000582	Upslanted palpebral fissure
182	JAG1	HP:0000585	Band keratopathy
182	JAG1	HP:0000580	Pigmentary retinopathy
182	JAG1	HP:0000593	Abnormal anterior chamber morphology
182	JAG1	HP:0000533	Chorioretinal atrophy
182	JAG1	HP:0000545	Myopia
183	AGT	HP:0008660	Renotubular dysgenesis
183	AGT	HP:0000079	Abnormality of the urinary system
183	AGT	HP:0000007	Autosomal recessive inheritance
183	AGT	HP:0002615	Hypotension
183	AGT	HP:0001426	Multifactorial inheritance
183	AGT	HP:0002009	Potter facies
183	AGT	HP:0002089	Pulmonary hypoplasia
183	AGT	HP:0002093	Respiratory insufficiency
183	AGT	HP:0100519	Anuria
183	AGT	HP:0004972	Elevated mean arterial pressure
183	AGT	HP:0004421	Elevated systolic blood pressure
183	AGT	HP:0004492	Widely patent fontanelles and sutures
183	AGT	HP:0005117	Elevated diastolic blood pressure
183	AGT	HP:0000252	Microcephaly
183	AGT	HP:0001562	Oligohydramnios
185	AGTR1	HP:0008660	Renotubular dysgenesis
185	AGTR1	HP:0000079	Abnormality of the urinary system
185	AGTR1	HP:0000007	Autosomal recessive inheritance
185	AGTR1	HP:0002615	Hypotension
185	AGTR1	HP:0001426	Multifactorial inheritance
185	AGTR1	HP:0002009	Potter facies
185	AGTR1	HP:0002089	Pulmonary hypoplasia
185	AGTR1	HP:0002093	Respiratory insufficiency
185	AGTR1	HP:0100519	Anuria
185	AGTR1	HP:0004972	Elevated mean arterial pressure
185	AGTR1	HP:0004421	Elevated systolic blood pressure
185	AGTR1	HP:0004492	Widely patent fontanelles and sutures
185	AGTR1	HP:0005117	Elevated diastolic blood pressure
185	AGTR1	HP:0000252	Microcephaly
185	AGTR1	HP:0001562	Oligohydramnios
189	AGXT	HP:0001138	Optic neuropathy
189	AGXT	HP:0003774	Stage 5 chronic kidney disease
189	AGXT	HP:0003761	Calcinosis
189	AGXT	HP:0001297	Stroke
189	AGXT	HP:0008672	Calcium oxalate nephrolithiasis
189	AGXT	HP:0000083	Renal insufficiency
189	AGXT	HP:0025324	Arterial occlusion
189	AGXT	HP:0000010	Recurrent urinary tract infections
189	AGXT	HP:0000007	Autosomal recessive inheritance
189	AGXT	HP:0002653	Bone pain
189	AGXT	HP:0002621	Atherosclerosis
189	AGXT	HP:0000164	Abnormality of the dentition
189	AGXT	HP:0000121	Nephrocalcinosis
189	AGXT	HP:0002756	Pathologic fracture
189	AGXT	HP:0100518	Dysuria
189	AGXT	HP:0003593	Infantile onset
189	AGXT	HP:0100758	Gangrene
189	AGXT	HP:0001063	Acrocyanosis
189	AGXT	HP:0009830	Peripheral neuropathy
189	AGXT	HP:0004950	Peripheral arterial stenosis
189	AGXT	HP:0030507	Retinal crystals
189	AGXT	HP:0000648	Optic atrophy
189	AGXT	HP:0001944	Dehydration
189	AGXT	HP:0001942	Metabolic acidosis
189	AGXT	HP:0001939	Abnormality of metabolism/homeostasis
189	AGXT	HP:0001903	Anemia
189	AGXT	HP:0000805	Enuresis
189	AGXT	HP:0000790	Hematuria
189	AGXT	HP:0000787	Nephrolithiasis
189	AGXT	HP:0004417	Intermittent claudication
189	AGXT	HP:0000924	Abnormality of the skeletal system
189	AGXT	HP:0003159	Hyperoxaluria
189	AGXT	HP:0011506	Choroidal neovascularization
189	AGXT	HP:0030880	Raynaud phenomenon
189	AGXT	HP:0000965	Cutis marmorata
189	AGXT	HP:0012213	Decreased glomerular filtration rate
189	AGXT	HP:0025520	Calcinosis cutis
189	AGXT	HP:0001508	Failure to thrive
189	AGXT	HP:0011021	Abnormality of circulating enzyme level
189	AGXT	HP:0011001	Increased bone mineral density
189	AGXT	HP:0001678	Atrioventricular block
189	AGXT	HP:0000488	Retinopathy
190	NR0B1	HP:0008726	Hypoplasia of the vagina
190	NR0B1	HP:0008730	Female external genitalia in individual with 46,XY karyotype
190	NR0B1	HP:0008734	Decreased testicular size
190	NR0B1	HP:0008736	Hypoplasia of penis
190	NR0B1	HP:0008715	Testicular dysgenesis
190	NR0B1	HP:0008665	Clitoral hypertrophy
190	NR0B1	HP:0000062	Ambiguous genitalia
190	NR0B1	HP:0000058	Abnormal labia morphology
190	NR0B1	HP:0000044	Hypogonadotropic hypogonadism
190	NR0B1	HP:0000045	Abnormality of the scrotum
190	NR0B1	HP:0000037	Male pseudohermaphroditism
190	NR0B1	HP:0000054	Micropenis
190	NR0B1	HP:0000047	Hypospadias
190	NR0B1	HP:0000030	Testicular gonadoblastoma
190	NR0B1	HP:0000026	Male hypogonadism
190	NR0B1	HP:0000028	Cryptorchidism
190	NR0B1	HP:0000027	Azoospermia
190	NR0B1	HP:0002667	Nephroblastoma
190	NR0B1	HP:0000142	Abnormal vagina morphology
190	NR0B1	HP:0000150	Gonadoblastoma
190	NR0B1	HP:0000147	Polycystic ovaries
190	NR0B1	HP:0000149	Ovarian gonadoblastoma
190	NR0B1	HP:0000133	Gonadal dysgenesis
190	NR0B1	HP:0000127	Renal salt wasting
190	NR0B1	HP:0000100	Nephrotic syndrome
190	NR0B1	HP:0002750	Delayed skeletal maturation
190	NR0B1	HP:0001419	X-linked recessive inheritance
190	NR0B1	HP:0001417	X-linked inheritance
190	NR0B1	HP:0008193	Primary gonadal insufficiency
190	NR0B1	HP:0008197	Absence of pubertal development
190	NR0B1	HP:0008187	Absence of secondary sex characteristics
190	NR0B1	HP:0008163	Decreased circulating cortisol level
190	NR0B1	HP:0010464	Streak ovary
190	NR0B1	HP:0008232	Elevated circulating follicle stimulating hormone level
190	NR0B1	HP:0008214	Decreased serum estradiol
190	NR0B1	HP:0008207	Primary adrenal insufficiency
190	NR0B1	HP:0003593	Infantile onset
190	NR0B1	HP:0002215	Sparse axillary hair
190	NR0B1	HP:0003560	Muscular dystrophy
190	NR0B1	HP:0002225	Sparse pubic hair
190	NR0B1	HP:0100779	Urogenital sinus anomaly
190	NR0B1	HP:0011969	Elevated circulating luteinizing hormone level
190	NR0B1	HP:0003623	Neonatal onset
190	NR0B1	HP:0003621	Juvenile onset
190	NR0B1	HP:0001944	Dehydration
190	NR0B1	HP:0004319	Decreased circulating aldosterone level
190	NR0B1	HP:0030680	Abnormality of cardiovascular system morphology
190	NR0B1	HP:0000771	Gynecomastia
190	NR0B1	HP:0011463	Childhood onset
190	NR0B1	HP:0011462	Young adult onset
190	NR0B1	HP:0000798	Oligospermia
190	NR0B1	HP:0000786	Primary amenorrhea
190	NR0B1	HP:0012870	Vanishing testis
190	NR0B1	HP:0000868	Decreased fertility in females
190	NR0B1	HP:0000837	Increased circulating gonadotropin level
190	NR0B1	HP:0000835	Adrenal hypoplasia
190	NR0B1	HP:0000846	Adrenal insufficiency
190	NR0B1	HP:0000815	Hypergonadotropic hypogonadism
190	NR0B1	HP:0000812	Abnormal internal genitalia
190	NR0B1	HP:0000826	Precocious puberty
190	NR0B1	HP:0000823	Delayed puberty
190	NR0B1	HP:0003251	Male infertility
190	NR0B1	HP:0000953	Hyperpigmentation of the skin
190	NR0B1	HP:0000939	Osteoporosis
190	NR0B1	HP:0040171	Decreased serum testosterone concentration
190	NR0B1	HP:0012244	Abnormal sex determination
190	NR0B1	HP:0012245	Sex reversal
190	NR0B1	HP:0001508	Failure to thrive
190	NR0B1	HP:0002902	Hyponatremia
191	AHCY	HP:0010919	Abnormal circulating homocysteine concentration
191	AHCY	HP:0010901	Abnormal circulating methionine concentration
191	AHCY	HP:0032234	Increased circulating creatine kinase MM isoform
191	AHCY	HP:0002421	Poor head control
191	AHCY	HP:0001270	Motor delay
191	AHCY	HP:0001252	Hypotonia
191	AHCY	HP:0001249	Intellectual disability
191	AHCY	HP:0001263	Global developmental delay
191	AHCY	HP:0001392	Abnormality of the liver
191	AHCY	HP:0001324	Muscle weakness
191	AHCY	HP:0000007	Autosomal recessive inheritance
191	AHCY	HP:0001321	Cerebellar hypoplasia
191	AHCY	HP:0031143	Decreased hepatic echogenicity
191	AHCY	HP:0000164	Abnormality of the dentition
191	AHCY	HP:0008947	Infantile muscular hypotonia
191	AHCY	HP:0012110	Hypoplasia of the pons
191	AHCY	HP:0001402	Hepatocellular carcinoma
191	AHCY	HP:0002079	Hypoplasia of the corpus callosum
191	AHCY	HP:0008169	Reduced factor VII activity
191	AHCY	HP:0008151	Prolonged prothrombin time
191	AHCY	HP:0002119	Ventriculomegaly
191	AHCY	HP:0003429	CNS hypomyelination
191	AHCY	HP:0011900	Hypofibrinogenemia
191	AHCY	HP:0002160	Hyperhomocystinemia
191	AHCY	HP:0003593	Infantile onset
191	AHCY	HP:0003560	Muscular dystrophy
191	AHCY	HP:0003557	Increased variability in muscle fiber diameter
191	AHCY	HP:0010719	Abnormality of hair texture
191	AHCY	HP:0011996	Elevated coagulation factor V activity
191	AHCY	HP:0020045	Esodeviation
191	AHCY	HP:0002376	Developmental regression
191	AHCY	HP:0007141	Sensorimotor neuropathy
191	AHCY	HP:0001976	Reduced antithrombin III activity
191	AHCY	HP:0001928	Abnormality of coagulation
191	AHCY	HP:0001999	Abnormal facial shape
191	AHCY	HP:0031956	Elevated circulating aspartate aminotransferase concentration
191	AHCY	HP:0031964	Elevated circulating alanine aminotransferase concentration
191	AHCY	HP:0003073	Hypoalbuminemia
191	AHCY	HP:0000736	Short attention span
191	AHCY	HP:0012704	Widened subarachnoid space
191	AHCY	HP:0000708	Atypical behavior
191	AHCY	HP:0003235	Hypermethioninemia
191	AHCY	HP:0003236	Elevated circulating creatine kinase concentration
191	AHCY	HP:0030890	Hyperintensity of cerebral white matter on MRI
191	AHCY	HP:0000252	Microcephaly
191	AHCY	HP:0002878	Respiratory failure
191	AHCY	HP:0001508	Failure to thrive
191	AHCY	HP:0001510	Growth delay
191	AHCY	HP:0002910	Elevated hepatic transaminase
191	AHCY	HP:0001638	Cardiomyopathy
191	AHCY	HP:0000486	Strabismus
191	AHCY	HP:0012448	Delayed myelination
191	AHCY	HP:0001789	Hydrops fetalis
191	AHCY	HP:0001763	Pes planus
191	AHCY	HP:0000565	Esotropia
196	AHR	HP:0001249	Intellectual disability
196	AHR	HP:0008736	Hypoplasia of penis
196	AHR	HP:0001347	Hyperreflexia
196	AHR	HP:0000035	Abnormal testis morphology
196	AHR	HP:0000007	Autosomal recessive inheritance
196	AHR	HP:0000135	Hypogonadism
196	AHR	HP:0007675	Progressive night blindness
196	AHR	HP:0007663	Reduced visual acuity
196	AHR	HP:0005978	Type II diabetes mellitus
196	AHR	HP:0000639	Nystagmus
196	AHR	HP:0000648	Optic atrophy
196	AHR	HP:0000618	Blindness
196	AHR	HP:0000613	Photophobia
196	AHR	HP:0000602	Ophthalmoplegia
196	AHR	HP:0000842	Hyperinsulinemia
196	AHR	HP:0000987	Atypical scarring of skin
196	AHR	HP:0008046	Abnormal retinal vascular morphology
196	AHR	HP:0007703	Abnormality of retinal pigmentation
196	AHR	HP:0001513	Obesity
196	AHR	HP:0000407	Sensorineural hearing impairment
196	AHR	HP:0000405	Conductive hearing impairment
196	AHR	HP:0000463	Anteverted nares
196	AHR	HP:0000431	Wide nasal bridge
196	AHR	HP:0000518	Cataract
196	AHR	HP:0000510	Rod-cone dystrophy
196	AHR	HP:0000512	Abnormal electroretinogram
196	AHR	HP:0000505	Visual impairment
196	AHR	HP:0000501	Glaucoma
196	AHR	HP:0000563	Keratoconus
197	AHSG	HP:0001171	Split hand
197	AHSG	HP:0001156	Brachydactyly
197	AHSG	HP:0010864	Intellectual disability, severe
197	AHSG	HP:0001250	Seizure
197	AHSG	HP:0001252	Hypotonia
197	AHSG	HP:0001249	Intellectual disability
197	AHSG	HP:0100840	Aplasia/Hypoplasia of the eyebrow
197	AHSG	HP:0001371	Flexion contracture
197	AHSG	HP:0000007	Autosomal recessive inheritance
197	AHSG	HP:0002650	Scoliosis
197	AHSG	HP:0002750	Delayed skeletal maturation
197	AHSG	HP:0011842	Abnormal skeletal morphology
197	AHSG	HP:0002231	Sparse body hair
197	AHSG	HP:0002209	Sparse scalp hair
197	AHSG	HP:0002289	Alopecia universalis
197	AHSG	HP:0002353	EEG abnormality
197	AHSG	HP:0200012	Short corpus callosum
197	AHSG	HP:0000613	Photophobia
197	AHSG	HP:0004322	Short stature
197	AHSG	HP:0000815	Hypergonadotropic hypogonadism
197	AHSG	HP:0008064	Ichthyosis
197	AHSG	HP:0001596	Alopecia
197	AHSG	HP:0005105	Abnormal nasal morphology
197	AHSG	HP:0000252	Microcephaly
197	AHSG	HP:0001510	Growth delay
197	AHSG	HP:0000365	Hearing impairment
197	AHSG	HP:0000400	Macrotia
203	AK1	HP:0000007	Autosomal recessive inheritance
203	AK1	HP:0001878	Hemolytic anemia
204	AK2	HP:0100806	Sepsis
204	AK2	HP:0000007	Autosomal recessive inheritance
204	AK2	HP:0002024	Malabsorption
204	AK2	HP:0002014	Diarrhea
204	AK2	HP:0010515	Aplasia/Hypoplasia of the thymus
204	AK2	HP:0002205	Recurrent respiratory infections
204	AK2	HP:0200042	Skin ulcer
204	AK2	HP:0005541	Congenital agranulocytosis
204	AK2	HP:0001944	Dehydration
204	AK2	HP:0001945	Fever
204	AK2	HP:0001903	Anemia
204	AK2	HP:0004313	Decreased circulating antibody level
204	AK2	HP:0000778	Hypoplasia of the thymus
204	AK2	HP:0004430	Severe combined immunodeficiency
204	AK2	HP:0003287	Abnormality of mitochondrial metabolism
204	AK2	HP:0000988	Skin rash
204	AK2	HP:0001508	Failure to thrive
204	AK2	HP:0000389	Chronic otitis media
204	AK2	HP:0000365	Hearing impairment
204	AK2	HP:0005374	Cellular immunodeficiency
204	AK2	HP:0005387	Combined immunodeficiency
204	AK2	HP:0005354	Lack of T cell function
204	AK2	HP:0005435	Impaired T cell function
204	AK2	HP:0001824	Weight loss
204	AK2	HP:0001888	Lymphopenia
204	AK2	HP:0001882	Leukopenia
204	AK2	HP:0001874	Abnormality of neutrophils
207	AKT1	HP:0001156	Brachydactyly
207	AKT1	HP:0001167	Abnormal finger morphology
207	AKT1	HP:0001140	Limbal dermoid
207	AKT1	HP:0009928	Thick nasal alae
207	AKT1	HP:0003745	Sporadic
207	AKT1	HP:0003764	Nevus
207	AKT1	HP:0001102	Angioid streaks of the fundus
207	AKT1	HP:0003715	Myofibrillar myopathy
207	AKT1	HP:0001269	Hemiparesis
207	AKT1	HP:0001279	Syncope
207	AKT1	HP:0001256	Intellectual disability, mild
207	AKT1	HP:0001250	Seizure
207	AKT1	HP:0001251	Ataxia
207	AKT1	HP:0001249	Intellectual disability
207	AKT1	HP:0001263	Global developmental delay
207	AKT1	HP:0001262	Excessive daytime somnolence
207	AKT1	HP:0007440	Generalized hyperpigmentation
207	AKT1	HP:0006101	Finger syndactyly
207	AKT1	HP:0007400	Irregular hyperpigmentation
207	AKT1	HP:0007403	Hypertrophy of skin of soles
207	AKT1	HP:0010997	Chromosomal breakage induced by ionizing radiation
207	AKT1	HP:0007359	Focal-onset seizure
207	AKT1	HP:0007340	Lower limb muscle weakness
207	AKT1	HP:0008675	Enlarged polycystic ovaries
207	AKT1	HP:0002516	Increased intracranial pressure
207	AKT1	HP:0002512	Brain stem compression
207	AKT1	HP:0012062	Bone cyst
207	AKT1	HP:0000077	Abnormality of the kidney
207	AKT1	HP:0000044	Hypogonadotropic hypogonadism
207	AKT1	HP:0000040	Long penis
207	AKT1	HP:0012032	Lipoma
207	AKT1	HP:0000036	Abnormal penis morphology
207	AKT1	HP:0001387	Joint stiffness
207	AKT1	HP:0000053	Macroorchidism
207	AKT1	HP:0000020	Urinary incontinence
207	AKT1	HP:0001363	Craniosynostosis
207	AKT1	HP:0000034	Hydrocele testis
207	AKT1	HP:0007565	Multiple cafe-au-lait spots
207	AKT1	HP:0007552	Abnormal subcutaneous fat tissue distribution
207	AKT1	HP:0007483	Depigmentation/hyperpigmentation of skin
207	AKT1	HP:0002664	Neoplasm
207	AKT1	HP:0001342	Cerebral hemorrhage
207	AKT1	HP:0000006	Autosomal dominant inheritance
207	AKT1	HP:0002652	Skeletal dysplasia
207	AKT1	HP:0002650	Scoliosis
207	AKT1	HP:0001317	Abnormal cerebellum morphology
207	AKT1	HP:0002625	Deep venous thrombosis
207	AKT1	HP:0000194	Open mouth
207	AKT1	HP:0000160	Narrow mouth
207	AKT1	HP:0000158	Macroglossia
207	AKT1	HP:0000141	Amenorrhea
207	AKT1	HP:0000138	Ovarian cyst
207	AKT1	HP:0001482	Subcutaneous nodule
207	AKT1	HP:0012114	Endometrial carcinoma
207	AKT1	HP:0000130	Abnormality of the uterus
207	AKT1	HP:0001428	Somatic mutation
207	AKT1	HP:0002753	Thin bony cortex
207	AKT1	HP:0000107	Renal cyst
207	AKT1	HP:0002751	Kyphoscoliosis
207	AKT1	HP:0002719	Recurrent infections
207	AKT1	HP:0002017	Nausea and vomiting
207	AKT1	HP:0003312	Abnormal form of the vertebral bodies
207	AKT1	HP:0100521	Neoplasm of the thymus
207	AKT1	HP:0100526	Neoplasm of the lung
207	AKT1	HP:0002080	Intention tremor
207	AKT1	HP:0100543	Cognitive impairment
207	AKT1	HP:0100560	Upper limb asymmetry
207	AKT1	HP:0100555	Asymmetric growth
207	AKT1	HP:0100559	Lower limb asymmetry
207	AKT1	HP:0011752	Neoplasm of the posterior pituitary
207	AKT1	HP:0011750	Neoplasm of the anterior pituitary
207	AKT1	HP:0011730	Abnormal central sensory function
207	AKT1	HP:0100579	Mucosal telangiectasiae
207	AKT1	HP:0010497	Sirenomelia
207	AKT1	HP:0005916	Abnormal metacarpal morphology
207	AKT1	HP:0008163	Decreased circulating cortisol level
207	AKT1	HP:0003484	Upper limb muscle weakness
207	AKT1	HP:0002101	Abnormal lung lobation
207	AKT1	HP:0003418	Back pain
207	AKT1	HP:0003416	Spinal canal stenosis
207	AKT1	HP:0010609	Skin tags
207	AKT1	HP:0002167	Abnormality of speech or vocalization
207	AKT1	HP:0002176	Spinal cord compression
207	AKT1	HP:0010566	Hamartoma
207	AKT1	HP:0008240	Secondary growth hormone deficiency
207	AKT1	HP:0008245	Pituitary hypothyroidism
207	AKT1	HP:0008237	Hypothalamic hypothyroidism
207	AKT1	HP:0010534	Transient global amnesia
207	AKT1	HP:0008214	Decreased serum estradiol
207	AKT1	HP:0010516	Thymus hyperplasia
207	AKT1	HP:0008202	Reduced circulating prolactin concentration
207	AKT1	HP:0010508	Metatarsus valgus
207	AKT1	HP:0009594	Retinal hamartoma
207	AKT1	HP:0003593	Infantile onset
207	AKT1	HP:0002253	Colonic diverticula
207	AKT1	HP:0003581	Adult onset
207	AKT1	HP:0002230	Generalized hirsutism
207	AKT1	HP:0002204	Pulmonary embolism
207	AKT1	HP:0100764	Lymphangioma
207	AKT1	HP:0100780	Conjunctival hamartoma
207	AKT1	HP:0100777	Exostoses
207	AKT1	HP:0100774	Hyperostosis
207	AKT1	HP:0009720	Adenoma sebaceum
207	AKT1	HP:0100730	Bronchogenic cyst
207	AKT1	HP:0002282	Gray matter heterotopia
207	AKT1	HP:0100761	Visceral angiomatosis
207	AKT1	HP:0010628	Facial palsy
207	AKT1	HP:0010619	Fibroadenoma of the breast
207	AKT1	HP:0010614	Fibroma
207	AKT1	HP:0001053	Hypopigmented skin patches
207	AKT1	HP:0001048	Cavernous hemangioma
207	AKT1	HP:0001067	Neurofibromas
207	AKT1	HP:0001031	Subcutaneous lipoma
207	AKT1	HP:0001028	Hemangioma
207	AKT1	HP:0001012	Multiple lipomas
207	AKT1	HP:0003676	Progressive
207	AKT1	HP:0002342	Intellectual disability, moderate
207	AKT1	HP:0001004	Lymphedema
207	AKT1	HP:0002355	Difficulty walking
207	AKT1	HP:0002354	Memory impairment
207	AKT1	HP:0002315	Headache
207	AKT1	HP:0001000	Abnormality of skin pigmentation
207	AKT1	HP:0100648	Neoplasm of the tongue
207	AKT1	HP:0100646	Thyroiditis
207	AKT1	HP:0025092	Epidermal acanthosis
207	AKT1	HP:0100661	Trigeminal neuralgia
207	AKT1	HP:0200034	Papule
207	AKT1	HP:0010828	Hemifacial spasm
207	AKT1	HP:0010816	Epidermal nevus
207	AKT1	HP:0200063	Colorectal polyposis
207	AKT1	HP:0009804	Tooth agenesis
207	AKT1	HP:0100615	Ovarian neoplasm
207	AKT1	HP:0001072	Thickened skin
207	AKT1	HP:0100621	Dysgerminoma
207	AKT1	HP:0001085	Papilledema
207	AKT1	HP:0010788	Testicular neoplasm
207	AKT1	HP:0004209	Clinodactyly of the 5th finger
207	AKT1	HP:0030521	Bitemporal hemianopia
207	AKT1	HP:0006824	Cranial nerve paralysis
207	AKT1	HP:0030532	Visual acuity test abnormality
207	AKT1	HP:0005595	Generalized hyperkeratosis
207	AKT1	HP:0005584	Renal cell carcinoma
207	AKT1	HP:0000618	Blindness
207	AKT1	HP:0000602	Ophthalmoplegia
207	AKT1	HP:0011386	Narrow internal auditory canal
207	AKT1	HP:0012691	Focal T2 hypointense thalamic lesion
207	AKT1	HP:0000682	Abnormal dental enamel morphology
207	AKT1	HP:0012658	Abnormal brain FDG positron emission tomography
207	AKT1	HP:0000670	Carious teeth
207	AKT1	HP:0004322	Short stature
207	AKT1	HP:0003002	Breast carcinoma
207	AKT1	HP:0004326	Cachexia
207	AKT1	HP:0004302	Functional motor deficit
207	AKT1	HP:0030680	Abnormality of cardiovascular system morphology
207	AKT1	HP:0000802	Impotence
207	AKT1	HP:0004390	Hamartomatous polyposis
207	AKT1	HP:0003019	Abnormality of the wrist
207	AKT1	HP:0100010	Spinal meningioma
207	AKT1	HP:0100006	Neoplasm of the central nervous system
207	AKT1	HP:0100009	Intracranial meningioma
207	AKT1	HP:0000771	Gynecomastia
207	AKT1	HP:0012733	Macule
207	AKT1	HP:0012740	Papilloma
207	AKT1	HP:0000767	Pectus excavatum
207	AKT1	HP:0100031	Neoplasm of the thyroid gland
207	AKT1	HP:0012721	Venous malformation
207	AKT1	HP:0100026	Arteriovenous malformation
207	AKT1	HP:0000717	Autism
207	AKT1	HP:0000712	Emotional lability
207	AKT1	HP:0030591	Abnormal kinetic perimetry test
207	AKT1	HP:0011442	Abnormal central motor function
207	AKT1	HP:0004420	Arterial thrombosis
207	AKT1	HP:0004418	Thrombophlebitis
207	AKT1	HP:0030766	Ear pain
207	AKT1	HP:0004408	Abnormality of the sense of smell
207	AKT1	HP:0003199	Decreased muscle mass
207	AKT1	HP:0004481	Progressive macrocephaly
207	AKT1	HP:0004490	Calvarial hyperostosis
207	AKT1	HP:0004472	Mandibular hyperostosis
207	AKT1	HP:0012871	Varicocele
207	AKT1	HP:0000873	Diabetes insipidus
207	AKT1	HP:0000854	Thyroid adenoma
207	AKT1	HP:0000853	Goiter
207	AKT1	HP:0000870	Increased circulating prolactin concentration
207	AKT1	HP:0000836	Hyperthyroidism
207	AKT1	HP:0000821	Hypothyroidism
207	AKT1	HP:0000820	Abnormality of the thyroid gland
207	AKT1	HP:0030878	Abnormality on pulmonary function testing
207	AKT1	HP:0045026	Abnormal mediastinum morphology
207	AKT1	HP:0000995	Melanocytic nevus
207	AKT1	HP:0000972	Palmoplantar hyperkeratosis
207	AKT1	HP:0000982	Palmoplantar keratoderma
207	AKT1	HP:0000962	Hyperkeratosis
207	AKT1	HP:0040171	Decreased serum testosterone concentration
207	AKT1	HP:0008069	Neoplasm of the skin
207	AKT1	HP:0007715	Weak extraocular muscles
207	AKT1	HP:0007703	Abnormality of retinal pigmentation
207	AKT1	HP:0012285	Abnormal hypothalamus physiology
207	AKT1	HP:0001597	Abnormality of the nail
207	AKT1	HP:0012246	Oculomotor nerve palsy
207	AKT1	HP:0000256	Macrocephaly
207	AKT1	HP:0000276	Long face
207	AKT1	HP:0000268	Dolichocephaly
207	AKT1	HP:0002827	Hip dislocation
207	AKT1	HP:0002808	Kyphosis
207	AKT1	HP:0000238	Hydrocephalus
207	AKT1	HP:0000221	Furrowed tongue
207	AKT1	HP:0000218	High palate
207	AKT1	HP:0002891	Uterine leiomyosarcoma
207	AKT1	HP:0001555	Asymmetry of the thorax
207	AKT1	HP:0002861	Melanoma
207	AKT1	HP:0002858	Meningioma
207	AKT1	HP:0001528	Hemihypertrophy
207	AKT1	HP:0001508	Failure to thrive
207	AKT1	HP:0001519	Disproportionate tall stature
207	AKT1	HP:0001513	Obesity
207	AKT1	HP:0007818	Central heterochromia
207	AKT1	HP:0007899	Retinal nonattachment
207	AKT1	HP:0006520	Progressive pulmonary function impairment
207	AKT1	HP:0002920	Decreased circulating ACTH level
207	AKT1	HP:0000365	Hearing impairment
207	AKT1	HP:0000360	Tinnitus
207	AKT1	HP:0000369	Low-set ears
207	AKT1	HP:0000347	Micrognathia
207	AKT1	HP:0000316	Hypertelorism
207	AKT1	HP:0000311	Round face
207	AKT1	HP:0001645	Sudden cardiac death
207	AKT1	HP:0000327	Hypoplasia of the maxilla
207	AKT1	HP:0000324	Facial asymmetry
207	AKT1	HP:0001626	Abnormality of the cardiovascular system
207	AKT1	HP:0007924	Slow decrease in visual acuity
207	AKT1	HP:0005374	Cellular immunodeficiency
207	AKT1	HP:0005306	Capillary hemangioma
207	AKT1	HP:0000400	Macrotia
207	AKT1	HP:0005280	Depressed nasal bridge
207	AKT1	HP:0000486	Strabismus
207	AKT1	HP:0000494	Downslanted palpebral fissures
207	AKT1	HP:0011133	Increased sensitivity to ionizing radiation
207	AKT1	HP:0000464	Abnormality of the neck
207	AKT1	HP:0000463	Anteverted nares
207	AKT1	HP:0001744	Splenomegaly
207	AKT1	HP:0006753	Neoplasm of the stomach
207	AKT1	HP:0006740	Transitional cell carcinoma of the bladder
207	AKT1	HP:0006731	Follicular thyroid carcinoma
207	AKT1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
207	AKT1	HP:0011276	Vascular skin abnormality
207	AKT1	HP:0005465	Facial hyperostosis
207	AKT1	HP:0006774	Ovarian papillary adenocarcinoma
207	AKT1	HP:0012505	Enlarged pituitary gland
207	AKT1	HP:0000518	Cataract
207	AKT1	HP:0000520	Proptosis
207	AKT1	HP:0001822	Hallux valgus
207	AKT1	HP:0000508	Ptosis
207	AKT1	HP:0000501	Glaucoma
207	AKT1	HP:0004099	Macrodactyly
207	AKT1	HP:0030344	Decreased circulating luteinizing hormone level
207	AKT1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
207	AKT1	HP:0000557	Buphthalmos
207	AKT1	HP:0000567	Chorioretinal coloboma
207	AKT1	HP:0000545	Myopia
208	AKT2	HP:0001250	Seizure
208	AKT2	HP:0001397	Hepatic steatosis
208	AKT2	HP:0001325	Hypoglycemic coma
208	AKT2	HP:0000006	Autosomal dominant inheritance
208	AKT2	HP:0000147	Polycystic ovaries
208	AKT2	HP:0008993	Increased intraabdominal fat
208	AKT2	HP:0005978	Type II diabetes mellitus
208	AKT2	HP:0002155	Hypertriglyceridemia
208	AKT2	HP:0002173	Hypoglycemic seizures
208	AKT2	HP:0002240	Hepatomegaly
208	AKT2	HP:0003584	Late onset
208	AKT2	HP:0031819	Increased waist to hip ratio
208	AKT2	HP:0001958	Nonketotic hypoglycemia
208	AKT2	HP:0001956	Truncal obesity
208	AKT2	HP:0001985	Hypoketotic hypoglycemia
208	AKT2	HP:0001998	Neonatal hypoglycemia
208	AKT2	HP:0030685	Decreased adiponectin level
208	AKT2	HP:0003077	Hyperlipidemia
208	AKT2	HP:0000771	Gynecomastia
208	AKT2	HP:0009125	Lipodystrophy
208	AKT2	HP:0030781	Increased circulating free fatty acid level
208	AKT2	HP:0000876	Oligomenorrhea
208	AKT2	HP:0000855	Insulin resistance
208	AKT2	HP:0000831	Insulin-resistant diabetes mellitus
208	AKT2	HP:0040214	Abnormal circulating insulin concentration
208	AKT2	HP:0003292	Decreased serum leptin
208	AKT2	HP:0030812	Enlarged tonsils
208	AKT2	HP:0000956	Acanthosis nigricans
208	AKT2	HP:0001528	Hemihypertrophy
208	AKT2	HP:0001520	Large for gestational age
208	AKT2	HP:0006568	Increased hepatic glycogen content
208	AKT2	HP:0002960	Autoimmunity
210	ALAD	HP:0001271	Polyneuropathy
210	ALAD	HP:0001289	Confusion
210	ALAD	HP:0001256	Intellectual disability, mild
210	ALAD	HP:0001252	Hypotonia
210	ALAD	HP:0001260	Dysarthria
210	ALAD	HP:0002572	Episodic vomiting
210	ALAD	HP:0100852	Abnormal fear/anxiety-related behavior
210	ALAD	HP:0001324	Muscle weakness
210	ALAD	HP:0000007	Autosomal recessive inheritance
210	ALAD	HP:0012187	Increased erythrocyte protoporphyrin concentration
210	ALAD	HP:0031258	Delirium
210	ALAD	HP:0002018	Nausea
210	ALAD	HP:0002019	Constipation
210	ALAD	HP:0002027	Abdominal pain
210	ALAD	HP:0002014	Diarrhea
210	ALAD	HP:0002013	Vomiting
210	ALAD	HP:0040322	Purple urine
210	ALAD	HP:0005946	Ventilator dependence with inability to wean
210	ALAD	HP:0002086	Abnormality of the respiratory system
210	ALAD	HP:0002093	Respiratory insufficiency
210	ALAD	HP:0010472	Abnormal circulating porphyrin concentration
210	ALAD	HP:0003470	Paralysis
210	ALAD	HP:0011848	Abdominal colic
210	ALAD	HP:0003401	Paresthesia
210	ALAD	HP:0003577	Congenital onset
210	ALAD	HP:0002203	Respiratory paralysis
210	ALAD	HP:0003690	Limb muscle weakness
210	ALAD	HP:0002355	Difficulty walking
210	ALAD	HP:0009830	Peripheral neuropathy
210	ALAD	HP:0007159	Fluctuations in consciousness
210	ALAD	HP:0007178	Motor polyneuropathy
210	ALAD	HP:0005547	Myeloproliferative disorder
210	ALAD	HP:0004302	Functional motor deficit
210	ALAD	HP:0000763	Sensory neuropathy
210	ALAD	HP:0000738	Hallucinations
210	ALAD	HP:0000739	Anxiety
210	ALAD	HP:0000741	Apathy
210	ALAD	HP:0000716	Depression
210	ALAD	HP:0000717	Autism
210	ALAD	HP:0000711	Restlessness
210	ALAD	HP:0000713	Agitation
210	ALAD	HP:0000707	Abnormality of the nervous system
210	ALAD	HP:0003163	Elevated urinary delta-aminolevulinic acid
210	ALAD	HP:0003270	Abdominal distention
210	ALAD	HP:0033010	Increased fecal coproporphyrin 3
210	ALAD	HP:0006466	Ankle flexion contracture
210	ALAD	HP:0012217	Increased urinary porphobilinogen
210	ALAD	HP:0001508	Failure to thrive
210	ALAD	HP:0012379	Abnormal circulating enzyme concentration or activity
210	ALAD	HP:0002902	Hyponatremia
210	ALAD	HP:0000365	Hearing impairment
210	ALAD	HP:0011121	Abnormality of skin morphology
210	ALAD	HP:0030272	Abnormal erythrocyte enzyme level
210	ALAD	HP:0001878	Hemolytic anemia
212	ALAS2	HP:0010972	Anemia of inadequate production
212	ALAS2	HP:0001324	Muscle weakness
212	ALAS2	HP:0012187	Increased erythrocyte protoporphyrin concentration
212	ALAS2	HP:0025406	Asthenia
212	ALAS2	HP:0001423	X-linked dominant inheritance
212	ALAS2	HP:0001419	X-linked recessive inheritance
212	ALAS2	HP:0002094	Dyspnea
212	ALAS2	HP:0004840	Hypochromic microcytic anemia
212	ALAS2	HP:0001017	Anemic pallor
212	ALAS2	HP:0001081	Cholelithiasis
212	ALAS2	HP:0001972	Macrocytic anemia
212	ALAS2	HP:0001952	Glucose intolerance
212	ALAS2	HP:0001924	Sideroblastic anemia
212	ALAS2	HP:0001903	Anemia
212	ALAS2	HP:0011463	Childhood onset
212	ALAS2	HP:0000980	Pallor
212	ALAS2	HP:0000992	Cutaneous photosensitivity
212	ALAS2	HP:0000953	Hyperpigmentation of the skin
212	ALAS2	HP:0012378	Fatigue
212	ALAS2	HP:0011031	Abnormality of iron homeostasis
212	ALAS2	HP:0002910	Elevated hepatic transaminase
212	ALAS2	HP:0001744	Splenomegaly
212	ALAS2	HP:0001891	Iron deficiency anemia
213	ALB	HP:0001263	Global developmental delay
213	ALB	HP:0032386	Elevated circulating transferrin concentration
213	ALB	HP:0031097	Abnormal thyroid-stimulating hormone level
213	ALB	HP:0000007	Autosomal recessive inheritance
213	ALB	HP:0000006	Autosomal dominant inheritance
213	ALB	HP:0002615	Hypotension
213	ALB	HP:0002783	Recurrent lower respiratory tract infections
213	ALB	HP:0008247	Euthyroid hyperthyroxinemia
213	ALB	HP:0010702	Increased circulating antibody level
213	ALB	HP:0010741	Pedal edema
213	ALB	HP:0011342	Mild global developmental delay
213	ALB	HP:0003077	Hyperlipidemia
213	ALB	HP:0003075	Hypoproteinemia
213	ALB	HP:0003073	Hypoalbuminemia
213	ALB	HP:0009125	Lipodystrophy
213	ALB	HP:0003124	Hypercholesterolemia
213	ALB	HP:0003141	Increased LDL cholesterol concentration
213	ALB	HP:0030851	Low pulse pressure
213	ALB	HP:0033076	Abnormal circulating free T4 concentration
213	ALB	HP:0033077	Increased circulating free T4 concentration
213	ALB	HP:0000969	Edema
213	ALB	HP:0000939	Osteoporosis
213	ALB	HP:0000282	Facial edema
213	ALB	HP:0001562	Oligohydramnios
213	ALB	HP:0001518	Small for gestational age
213	ALB	HP:0001513	Obesity
213	ALB	HP:0012378	Fatigue
213	ALB	HP:0005268	Miscarriage
213	ALB	HP:0001643	Patent ductus arteriosus
213	ALB	HP:0001622	Premature birth
213	ALB	HP:0005413	Increased alpha-globulin
215	ABCD1	HP:0001181	Adducted thumb
215	ABCD1	HP:0007305	CNS demyelination
215	ABCD1	HP:0007266	Cerebral dysmyelination
215	ABCD1	HP:0100806	Sepsis
215	ABCD1	HP:0100816	Lip hyperpigmentation
215	ABCD1	HP:0001271	Polyneuropathy
215	ABCD1	HP:0001269	Hemiparesis
215	ABCD1	HP:0001268	Mental deterioration
215	ABCD1	HP:0001289	Confusion
215	ABCD1	HP:0001288	Gait disturbance
215	ABCD1	HP:0001283	Bulbar palsy
215	ABCD1	HP:0001285	Spastic tetraparesis
215	ABCD1	HP:0001250	Seizure
215	ABCD1	HP:0001251	Ataxia
215	ABCD1	HP:0001249	Intellectual disability
215	ABCD1	HP:0001260	Dysarthria
215	ABCD1	HP:0001258	Spastic paraplegia
215	ABCD1	HP:0001257	Spasticity
215	ABCD1	HP:0410263	Brain imaging abnormality
215	ABCD1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
215	ABCD1	HP:0031064	Impaired continence
215	ABCD1	HP:0007340	Lower limb muscle weakness
215	ABCD1	HP:0002540	Inability to walk
215	ABCD1	HP:0002518	Abnormal periventricular white matter morphology
215	ABCD1	HP:0002500	Abnormal cerebral white matter morphology
215	ABCD1	HP:0000020	Urinary incontinence
215	ABCD1	HP:0001350	Slurred speech
215	ABCD1	HP:0000016	Urinary retention
215	ABCD1	HP:0001347	Hyperreflexia
215	ABCD1	HP:0000026	Male hypogonadism
215	ABCD1	HP:0001328	Specific learning disability
215	ABCD1	HP:0000012	Urinary urgency
215	ABCD1	HP:0001310	Dysmetria
215	ABCD1	HP:0002607	Bowel incontinence
215	ABCD1	HP:0000135	Hypogonadism
215	ABCD1	HP:0007663	Reduced visual acuity
215	ABCD1	HP:0008969	Leg muscle stiffness
215	ABCD1	HP:0001419	X-linked recessive inheritance
215	ABCD1	HP:0002019	Constipation
215	ABCD1	HP:0002017	Nausea and vomiting
215	ABCD1	HP:0040307	Male sexual dysfunction
215	ABCD1	HP:0002027	Abdominal pain
215	ABCD1	HP:0002014	Diarrhea
215	ABCD1	HP:0002015	Dysphagia
215	ABCD1	HP:0100543	Cognitive impairment
215	ABCD1	HP:0002064	Spastic gait
215	ABCD1	HP:0002061	Lower limb spasticity
215	ABCD1	HP:0002078	Truncal ataxia
215	ABCD1	HP:0002070	Limb ataxia
215	ABCD1	HP:0100502	Vitamin B12 deficiency
215	ABCD1	HP:0011749	Adrenocorticotropic hormone excess
215	ABCD1	HP:0040288	Nasogastric tube feeding
215	ABCD1	HP:0008163	Decreased circulating cortisol level
215	ABCD1	HP:0008167	Very long chain fatty acid accumulation
215	ABCD1	HP:0003477	Peripheral axonal neuropathy
215	ABCD1	HP:0002143	Abnormal spinal cord morphology
215	ABCD1	HP:0003487	Babinski sign
215	ABCD1	HP:0003455	Elevated circulating long chain fatty acid concentration
215	ABCD1	HP:0003418	Back pain
215	ABCD1	HP:0002186	Apraxia
215	ABCD1	HP:0002180	Neurodegeneration
215	ABCD1	HP:0002196	Myelopathy
215	ABCD1	HP:0002167	Abnormality of speech or vocalization
215	ABCD1	HP:0010527	Astereognosia
215	ABCD1	HP:0008207	Primary adrenal insufficiency
215	ABCD1	HP:0002251	Aganglionic megacolon
215	ABCD1	HP:0002213	Fine hair
215	ABCD1	HP:0002283	Global brain atrophy
215	ABCD1	HP:0002292	Frontal balding
215	ABCD1	HP:0007034	Generalized hyperreflexia
215	ABCD1	HP:0007018	Attention deficit hyperactivity disorder
215	ABCD1	HP:0007006	Dorsal column degeneration
215	ABCD1	HP:0002385	Paraparesis
215	ABCD1	HP:0002371	Loss of speech
215	ABCD1	HP:0003676	Progressive
215	ABCD1	HP:0002355	Difficulty walking
215	ABCD1	HP:0002354	Memory impairment
215	ABCD1	HP:0001000	Abnormality of skin pigmentation
215	ABCD1	HP:0200008	Intestinal polyposis
215	ABCD1	HP:0009830	Peripheral neuropathy
215	ABCD1	HP:0100639	Erectile dysfunction
215	ABCD1	HP:0007162	Diffuse demyelination of the cerebral white matter
215	ABCD1	HP:0010794	Impaired visuospatial constructive cognition
215	ABCD1	HP:0007141	Sensorimotor neuropathy
215	ABCD1	HP:0002311	Incoordination
215	ABCD1	HP:0007199	Progressive spastic paraparesis
215	ABCD1	HP:0031845	Abnormal libido
215	ABCD1	HP:0006827	Atrophy of the spinal cord
215	ABCD1	HP:0000618	Blindness
215	ABCD1	HP:0009053	Distal lower limb muscle weakness
215	ABCD1	HP:0000657	Oculomotor apraxia
215	ABCD1	HP:0004322	Short stature
215	ABCD1	HP:0004302	Functional motor deficit
215	ABCD1	HP:0006938	Impaired vibration sensation at ankles
215	ABCD1	HP:0031993	Hoffmann sign
215	ABCD1	HP:0003089	Hamstring contractures
215	ABCD1	HP:0000802	Impotence
215	ABCD1	HP:0004359	Abnormal circulating fatty-acid concentration
215	ABCD1	HP:0000752	Hyperactivity
215	ABCD1	HP:0000764	Peripheral axonal degeneration
215	ABCD1	HP:0100031	Neoplasm of the thyroid gland
215	ABCD1	HP:0000736	Short attention span
215	ABCD1	HP:0012719	Functional abnormality of the gastrointestinal tract
215	ABCD1	HP:0000726	Dementia
215	ABCD1	HP:0000709	Psychosis
215	ABCD1	HP:0000708	Atypical behavior
215	ABCD1	HP:0011448	Ankle clonus
215	ABCD1	HP:0000849	Adrenocortical abnormality
215	ABCD1	HP:0000846	Adrenal insufficiency
215	ABCD1	HP:0010284	Intra-oral hyperpigmentation
215	ABCD1	HP:0040078	Axonal degeneration
215	ABCD1	HP:0045084	Limb myoclonus
215	ABCD1	HP:0000953	Hyperpigmentation of the skin
215	ABCD1	HP:0100291	Abnormality of central somatosensory evoked potentials
215	ABCD1	HP:0001596	Alopecia
215	ABCD1	HP:0001531	Failure to thrive in infancy
215	ABCD1	HP:0030014	Female sexual dysfunction
215	ABCD1	HP:0031358	Vegetative state
215	ABCD1	HP:0002839	Urinary bladder sphincter dysfunction
215	ABCD1	HP:0012378	Fatigue
215	ABCD1	HP:0005214	Intestinal obstruction
215	ABCD1	HP:0030177	Abnormality of peripheral nervous system electrophysiology
215	ABCD1	HP:0002936	Distal sensory impairment
215	ABCD1	HP:0000365	Hearing impairment
215	ABCD1	HP:0000317	Facial myokymia
215	ABCD1	HP:0000407	Sensorineural hearing impairment
215	ABCD1	HP:0030222	Visual agnosia
215	ABCD1	HP:0012501	Abnormal brainstem white matter morphology
215	ABCD1	HP:0001824	Weight loss
215	ABCD1	HP:0000572	Visual loss
215	ABCD1	HP:0012534	Dysesthesia
217	ALDH2	HP:0000006	Autosomal dominant inheritance
217	ALDH2	HP:0003533	Reduced acetaldehyde dehydrogenase level
217	ALDH2	HP:0001033	Facial flushing after alcohol intake
220	ALDH1A3	HP:0000007	Autosomal recessive inheritance
220	ALDH1A3	HP:0003577	Congenital onset
220	ALDH1A3	HP:0008499	High hypermetropia
220	ALDH1A3	HP:0000610	Abnormal choroid morphology
220	ALDH1A3	HP:0000621	Entropion
220	ALDH1A3	HP:0000609	Optic nerve hypoplasia
220	ALDH1A3	HP:0012745	Short palpebral fissure
220	ALDH1A3	HP:0011478	True anophthalmia
220	ALDH1A3	HP:0034311	Hypoplastic optic chiasm
220	ALDH1A3	HP:0007703	Abnormality of retinal pigmentation
220	ALDH1A3	HP:0000486	Strabismus
220	ALDH1A3	HP:0000480	Retinal coloboma
220	ALDH1A3	HP:0000528	Anophthalmia
220	ALDH1A3	HP:0000501	Glaucoma
220	ALDH1A3	HP:0000568	Microphthalmia
220	ALDH1A3	HP:0000541	Retinal detachment
224	ALDH3A2	HP:0007305	CNS demyelination
224	ALDH3A2	HP:0007256	Abnormal pyramidal sign
224	ALDH3A2	HP:0001250	Seizure
224	ALDH3A2	HP:0001252	Hypotonia
224	ALDH3A2	HP:0001249	Intellectual disability
224	ALDH3A2	HP:0001264	Spastic diplegia
224	ALDH3A2	HP:0001260	Dysarthria
224	ALDH3A2	HP:0001257	Spasticity
224	ALDH3A2	HP:0007440	Generalized hyperpigmentation
224	ALDH3A2	HP:0001371	Flexion contracture
224	ALDH3A2	HP:0001387	Joint stiffness
224	ALDH3A2	HP:0000007	Autosomal recessive inheritance
224	ALDH3A2	HP:0002652	Skeletal dysplasia
224	ALDH3A2	HP:0002650	Scoliosis
224	ALDH3A2	HP:0007663	Reduced visual acuity
224	ALDH3A2	HP:0006297	Enamel hypoplasia
224	ALDH3A2	HP:0100533	Inflammatory abnormality of the eye
224	ALDH3A2	HP:0002167	Abnormality of speech or vocalization
224	ALDH3A2	HP:0003577	Congenital onset
224	ALDH3A2	HP:0032028	Macular dots
224	ALDH3A2	HP:0001025	Urticaria
224	ALDH3A2	HP:0002313	Spastic paraparesis
224	ALDH3A2	HP:0200020	Corneal erosion
224	ALDH3A2	HP:0010783	Erythema
224	ALDH3A2	HP:0030501	Macular crystals
224	ALDH3A2	HP:0000613	Photophobia
224	ALDH3A2	HP:0000608	Macular degeneration
224	ALDH3A2	HP:0000682	Abnormal dental enamel morphology
224	ALDH3A2	HP:0004322	Short stature
224	ALDH3A2	HP:0000958	Dry skin
224	ALDH3A2	HP:0000962	Hyperkeratosis
224	ALDH3A2	HP:0008064	Ichthyosis
224	ALDH3A2	HP:0007722	Retinal pigment epithelial atrophy
224	ALDH3A2	HP:0007703	Abnormality of retinal pigmentation
224	ALDH3A2	HP:0001595	Abnormal hair morphology
224	ALDH3A2	HP:0001597	Abnormality of the nail
224	ALDH3A2	HP:0007727	Opacification of the corneal epithelium
224	ALDH3A2	HP:0002808	Kyphosis
224	ALDH3A2	HP:0000252	Microcephaly
224	ALDH3A2	HP:0002942	Thoracic kyphosis
224	ALDH3A2	HP:0030329	Retinal thinning
224	ALDH3A2	HP:0000483	Astigmatism
224	ALDH3A2	HP:0000488	Retinopathy
224	ALDH3A2	HP:0031717	Alternating exotropia
224	ALDH3A2	HP:0000551	Color vision defect
224	ALDH3A2	HP:0000545	Myopia
226	ALDOA	HP:0003756	Skeletal myopathy
226	ALDOA	HP:0001270	Motor delay
226	ALDOA	HP:0001252	Hypotonia
226	ALDOA	HP:0001249	Intellectual disability
226	ALDOA	HP:0001328	Specific learning disability
226	ALDOA	HP:0001324	Muscle weakness
226	ALDOA	HP:0000007	Autosomal recessive inheritance
226	ALDOA	HP:0025435	Increased circulating lactate dehydrogenase concentration
226	ALDOA	HP:0003326	Myalgia
226	ALDOA	HP:0002153	Hyperkalemia
226	ALDOA	HP:0003458	EMG: myopathic abnormalities
226	ALDOA	HP:0002162	Low posterior hairline
226	ALDOA	HP:0003593	Infantile onset
226	ALDOA	HP:0002240	Hepatomegaly
226	ALDOA	HP:0003555	Muscle fiber splitting
226	ALDOA	HP:0003558	Viral infection-induced rhabdomyolysis
226	ALDOA	HP:0003557	Increased variability in muscle fiber diameter
226	ALDOA	HP:0008331	Elevated creatine kinase after exercise
226	ALDOA	HP:0001081	Cholelithiasis
226	ALDOA	HP:0001082	Cholecystitis
226	ALDOA	HP:0003641	Hemoglobinuria
226	ALDOA	HP:0020181	Reduced haptoglobin level
226	ALDOA	HP:0001945	Fever
226	ALDOA	HP:0001930	Nonspherocytic hemolytic anemia
226	ALDOA	HP:0001903	Anemia
226	ALDOA	HP:0001919	Acute kidney injury
226	ALDOA	HP:0009045	Exercise-induced rhabdomyolysis
226	ALDOA	HP:0004322	Short stature
226	ALDOA	HP:0031964	Elevated circulating alanine aminotransferase concentration
226	ALDOA	HP:0000750	Delayed speech and language development
226	ALDOA	HP:0003198	Myopathy
226	ALDOA	HP:0003199	Decreased muscle mass
226	ALDOA	HP:0000823	Delayed puberty
226	ALDOA	HP:0003236	Elevated circulating creatine kinase concentration
226	ALDOA	HP:0000952	Jaundice
226	ALDOA	HP:0100295	Muscle fiber atrophy
226	ALDOA	HP:0011675	Arrhythmia
226	ALDOA	HP:0000286	Epicanthus
226	ALDOA	HP:0001510	Growth delay
226	ALDOA	HP:0002913	Myoglobinuria
226	ALDOA	HP:0002904	Hyperbilirubinemia
226	ALDOA	HP:0000470	Short neck
226	ALDOA	HP:0001744	Splenomegaly
226	ALDOA	HP:0000508	Ptosis
226	ALDOA	HP:0012545	Reduced circulating aldolase concentration
226	ALDOA	HP:0001895	Normochromic anemia
226	ALDOA	HP:0001897	Normocytic anemia
226	ALDOA	HP:0001878	Hemolytic anemia
229	ALDOB	HP:0001254	Lethargy
229	ALDOB	HP:0001250	Seizure
229	ALDOB	HP:0001249	Intellectual disability
229	ALDOB	HP:0001259	Coma
229	ALDOB	HP:0000083	Renal insufficiency
229	ALDOB	HP:0001397	Hepatic steatosis
229	ALDOB	HP:0001394	Cirrhosis
229	ALDOB	HP:0012051	Reactive hypoglycemia
229	ALDOB	HP:0000007	Autosomal recessive inheritance
229	ALDOB	HP:0000114	Proximal tubulopathy
229	ALDOB	HP:0002018	Nausea
229	ALDOB	HP:0002019	Constipation
229	ALDOB	HP:0002027	Abdominal pain
229	ALDOB	HP:0002014	Diarrhea
229	ALDOB	HP:0002013	Vomiting
229	ALDOB	HP:0005973	Fructose intolerance
229	ALDOB	HP:0002049	Proximal renal tubular acidosis
229	ALDOB	HP:0002148	Hypophosphatemia
229	ALDOB	HP:0002149	Hyperuricemia
229	ALDOB	HP:0008273	Transient aminoaciduria
229	ALDOB	HP:0002240	Hepatomegaly
229	ALDOB	HP:0002239	Gastrointestinal hemorrhage
229	ALDOB	HP:0001069	Episodic hyperhidrosis
229	ALDOB	HP:0003646	Bicarbonaturia
229	ALDOB	HP:0100626	Chronic hepatic failure
229	ALDOB	HP:0012622	Chronic kidney disease
229	ALDOB	HP:0001943	Hypoglycemia
229	ALDOB	HP:0001942	Metabolic acidosis
229	ALDOB	HP:0000670	Carious teeth
229	ALDOB	HP:0003076	Glycosuria
229	ALDOB	HP:0004395	Malnutrition
229	ALDOB	HP:0003109	Hyperphosphaturia
229	ALDOB	HP:0003149	Hyperuricosuria
229	ALDOB	HP:0003128	Lactic acidosis
229	ALDOB	HP:0003270	Abdominal distention
229	ALDOB	HP:0003256	Abnormality of the coagulation cascade
229	ALDOB	HP:0000952	Jaundice
229	ALDOB	HP:0001508	Failure to thrive
229	ALDOB	HP:0001510	Growth delay
229	ALDOB	HP:0002918	Hypermagnesemia
229	ALDOB	HP:0002910	Elevated hepatic transaminase
229	ALDOB	HP:0002904	Hyperbilirubinemia
229	ALDOB	HP:0000518	Cataract
229	ALDOB	HP:0012545	Reduced circulating aldolase concentration
238	ALK	HP:0011976	Elevated urinary catecholamines
238	ALK	HP:0004375	Neoplasm of the nervous system
240	ALOX5	HP:0000006	Autosomal dominant inheritance
240	ALOX5	HP:0001426	Multifactorial inheritance
240	ALOX5	HP:0002099	Asthma
240	ALOX5	HP:4000007	Bronchoconstriction
240	ALOX5	HP:0032933	Airway hyperresponsiveness
241	ALOX5AP	HP:0001297	Stroke
241	ALOX5AP	HP:0001426	Multifactorial inheritance
241	ALOX5AP	HP:0003581	Adult onset
242	ALOX12B	HP:0025114	Hypergranulosis
242	ALOX12B	HP:0100806	Sepsis
242	ALOX12B	HP:0007431	Congenital ichthyosiform erythroderma
242	ALOX12B	HP:0100840	Aplasia/Hypoplasia of the eyebrow
242	ALOX12B	HP:0000083	Renal insufficiency
242	ALOX12B	HP:0001376	Limitation of joint mobility
242	ALOX12B	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
242	ALOX12B	HP:0000007	Autosomal recessive inheritance
242	ALOX12B	HP:0000164	Abnormality of the dentition
242	ALOX12B	HP:0100543	Cognitive impairment
242	ALOX12B	HP:0003470	Paralysis
242	ALOX12B	HP:0033252	Palmar hyperlinearity
242	ALOX12B	HP:0003577	Congenital onset
242	ALOX12B	HP:0002205	Recurrent respiratory infections
242	ALOX12B	HP:0100758	Gangrene
242	ALOX12B	HP:0001019	Erythroderma
242	ALOX12B	HP:0200020	Corneal erosion
242	ALOX12B	HP:0025092	Epidermal acanthosis
242	ALOX12B	HP:0100679	Lack of skin elasticity
242	ALOX12B	HP:0010783	Erythema
242	ALOX12B	HP:0006889	Intellectual disability, borderline
242	ALOX12B	HP:0001944	Dehydration
242	ALOX12B	HP:0000656	Ectropion
242	ALOX12B	HP:0004322	Short stature
242	ALOX12B	HP:0003241	External genital hypoplasia
242	ALOX12B	HP:0000989	Pruritus
242	ALOX12B	HP:0000982	Palmoplantar keratoderma
242	ALOX12B	HP:0000958	Dry skin
242	ALOX12B	HP:0000970	Anhidrosis
242	ALOX12B	HP:0000966	Hypohidrosis
242	ALOX12B	HP:0000962	Hyperkeratosis
242	ALOX12B	HP:0008070	Sparse hair
242	ALOX12B	HP:0008064	Ichthyosis
242	ALOX12B	HP:0009381	Short finger
242	ALOX12B	HP:0001595	Abnormal hair morphology
242	ALOX12B	HP:0001597	Abnormality of the nail
242	ALOX12B	HP:0001596	Alopecia
242	ALOX12B	HP:0000232	Everted lower lip vermilion
242	ALOX12B	HP:0001508	Failure to thrive
242	ALOX12B	HP:0001510	Growth delay
242	ALOX12B	HP:0011039	Abnormal helix morphology
242	ALOX12B	HP:0000389	Chronic otitis media
242	ALOX12B	HP:0000365	Hearing impairment
242	ALOX12B	HP:0000491	Keratitis
242	ALOX12B	HP:0001792	Small nail
242	ALOX12B	HP:0001831	Short toe
242	ALOX12B	HP:0001816	Thin nail
249	ALPL	HP:0001250	Seizure
249	ALPL	HP:0001252	Hypotonia
249	ALPL	HP:0002515	Waddling gait
249	ALPL	HP:0003826	Stillbirth
249	ALPL	HP:0001363	Craniosynostosis
249	ALPL	HP:0008873	Disproportionate short-limb short stature
249	ALPL	HP:0002659	Increased susceptibility to fractures
249	ALPL	HP:0000007	Autosomal recessive inheritance
249	ALPL	HP:0000006	Autosomal dominant inheritance
249	ALPL	HP:0000164	Abnormality of the dentition
249	ALPL	HP:0025430	High-pitched cry
249	ALPL	HP:0006357	Premature loss of permanent teeth
249	ALPL	HP:0006323	Premature loss of primary teeth
249	ALPL	HP:0000121	Nephrocalcinosis
249	ALPL	HP:0002757	Recurrent fractures
249	ALPL	HP:0002756	Pathologic fracture
249	ALPL	HP:0002748	Rickets
249	ALPL	HP:0002749	Osteomalacia
249	ALPL	HP:0002019	Constipation
249	ALPL	HP:0002013	Vomiting
249	ALPL	HP:0002007	Frontal bossing
249	ALPL	HP:0002039	Anorexia
249	ALPL	HP:0004606	Unossified vertebral bodies
249	ALPL	HP:0002150	Hypercalciuria
249	ALPL	HP:0002104	Apnea
249	ALPL	HP:0003491	Elevated urine pyrophosphate
249	ALPL	HP:0002170	Intracranial hemorrhage
249	ALPL	HP:0011864	Elevated plasma pyrophosphate
249	ALPL	HP:0002205	Recurrent respiratory infections
249	ALPL	HP:0001024	Skin dimple over apex of long bone angulation
249	ALPL	HP:0008428	Vertebral clefting
249	ALPL	HP:0001945	Fever
249	ALPL	HP:0001903	Anemia
249	ALPL	HP:0000670	Carious teeth
249	ALPL	HP:0004322	Short stature
249	ALPL	HP:0003072	Hypercalcemia
249	ALPL	HP:0003040	Arthropathy
249	ALPL	HP:0003021	Metaphyseal cupping
249	ALPL	HP:0000737	Irritability
249	ALPL	HP:0000773	Short ribs
249	ALPL	HP:0003198	Myopathy
249	ALPL	HP:0000926	Platyspondyly
249	ALPL	HP:0004492	Widely patent fontanelles and sutures
249	ALPL	HP:0000897	Rachitic rosary
249	ALPL	HP:0003239	Phosphoethanolaminuria
249	ALPL	HP:0003282	Low alkaline phosphatase
249	ALPL	HP:0000934	Chondrocalcinosis
249	ALPL	HP:0000268	Dolichocephaly
249	ALPL	HP:0006385	Short lower limbs
249	ALPL	HP:0001561	Polyhydramnios
249	ALPL	HP:0001522	Death in infancy
249	ALPL	HP:0001508	Failure to thrive
249	ALPL	HP:0002983	Micromelia
249	ALPL	HP:0002979	Bowing of the legs
249	ALPL	HP:0001760	Abnormal foot morphology
249	ALPL	HP:0005474	Decreased calvarial ossification
249	ALPL	HP:0000520	Proptosis
249	ALPL	HP:0000592	Blue sclerae
257	ALX3	HP:0001156	Brachydactyly
257	ALX3	HP:0001162	Postaxial hand polydactyly
257	ALX3	HP:0008591	Congenital conductive hearing impairment
257	ALX3	HP:0003745	Sporadic
257	ALX3	HP:0025247	Dermoid cyst
257	ALX3	HP:0001274	Agenesis of corpus callosum
257	ALX3	HP:0001249	Intellectual disability
257	ALX3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
257	ALX3	HP:0007541	Frontal cutaneous lipoma
257	ALX3	HP:0000007	Autosomal recessive inheritance
257	ALX3	HP:0002650	Scoliosis
257	ALX3	HP:0000161	Median cleft lip
257	ALX3	HP:0000175	Cleft palate
257	ALX3	HP:0002738	Hypoplastic frontal sinuses
257	ALX3	HP:0002000	Short columella
257	ALX3	HP:0011817	Basal encephalocele
257	ALX3	HP:0011803	Bifid nose
257	ALX3	HP:0002084	Encephalocele
257	ALX3	HP:0009466	Radial deviation of finger
257	ALX3	HP:0009473	Joint contracture of the hand
257	ALX3	HP:0100490	Camptodactyly of finger
257	ALX3	HP:0009099	Median cleft palate
257	ALX3	HP:0000612	Iris coloboma
257	ALX3	HP:0006992	Anterior basal encephalocele
257	ALX3	HP:0006931	Pericallosal lipoma
257	ALX3	HP:0004423	Cranium bifidum occultum
257	ALX3	HP:0000873	Diabetes insipidus
257	ALX3	HP:0010297	Bifid tongue
257	ALX3	HP:0040019	Finger clinodactyly
257	ALX3	HP:0040075	Hypopituitarism
257	ALX3	HP:0000286	Epicanthus
257	ALX3	HP:0030084	Clinodactyly
257	ALX3	HP:0001566	Widely-spaced maxillary central incisors
257	ALX3	HP:0012385	Camptodactyly
257	ALX3	HP:0000384	Preauricular skin tag
257	ALX3	HP:0005258	Pectoral muscle hypoplasia/aplasia
257	ALX3	HP:0002938	Lumbar hyperlordosis
257	ALX3	HP:0000369	Low-set ears
257	ALX3	HP:0000368	Low-set, posteriorly rotated ears
257	ALX3	HP:0000349	Widow's peak
257	ALX3	HP:0000316	Hypertelorism
257	ALX3	HP:0000327	Hypoplasia of the maxilla
257	ALX3	HP:0001636	Tetralogy of Fallot
257	ALX3	HP:0000405	Conductive hearing impairment
257	ALX3	HP:0000486	Strabismus
257	ALX3	HP:0000455	Broad nasal tip
257	ALX3	HP:0000456	Bifid nasal tip
257	ALX3	HP:0000431	Wide nasal bridge
257	ALX3	HP:0004112	Midline nasal groove
257	ALX3	HP:0000518	Cataract
257	ALX3	HP:0000508	Ptosis
257	ALX3	HP:0000589	Coloboma
257	ALX3	HP:0000568	Microphthalmia
258	AMBN	HP:0000007	Autosomal recessive inheritance
258	AMBN	HP:0006297	Enamel hypoplasia
258	AMBN	HP:0003593	Infantile onset
258	AMBN	HP:0009722	Dental enamel pits
258	AMBN	HP:0000705	Amelogenesis imperfecta
258	AMBN	HP:0011073	Abnormality of dental color
265	AMELX	HP:0006297	Enamel hypoplasia
265	AMELX	HP:0001423	X-linked dominant inheritance
265	AMELX	HP:0009102	Anterior open-bite malocclusion
265	AMELX	HP:0000705	Amelogenesis imperfecta
265	AMELX	HP:0010299	Abnormal dentin morphology
268	AMH	HP:0008689	Bilateral cryptorchidism
268	AMH	HP:0000037	Male pseudohermaphroditism
268	AMH	HP:0000023	Inguinal hernia
268	AMH	HP:0000028	Cryptorchidism
268	AMH	HP:0000007	Autosomal recessive inheritance
268	AMH	HP:0031103	Decreased cirrculating antimullerian hormone circulation
268	AMH	HP:0003577	Congenital onset
268	AMH	HP:0003251	Male infertility
269	AMHR2	HP:0008689	Bilateral cryptorchidism
269	AMHR2	HP:0000037	Male pseudohermaphroditism
269	AMHR2	HP:0000023	Inguinal hernia
269	AMHR2	HP:0000028	Cryptorchidism
269	AMHR2	HP:0000007	Autosomal recessive inheritance
269	AMHR2	HP:0031103	Decreased cirrculating antimullerian hormone circulation
269	AMHR2	HP:0003577	Congenital onset
269	AMHR2	HP:0003251	Male infertility
270	AMPD1	HP:0003750	Increased muscle fatiguability
270	AMPD1	HP:0003738	Exercise-induced myalgia
270	AMPD1	HP:0001284	Areflexia
270	AMPD1	HP:0001252	Hypotonia
270	AMPD1	HP:0001324	Muscle weakness
270	AMPD1	HP:0000007	Autosomal recessive inheritance
270	AMPD1	HP:0003326	Myalgia
270	AMPD1	HP:0003394	Muscle spasm
270	AMPD1	HP:0002151	Increased serum lactate
270	AMPD1	HP:0034529	Reduced muscle myoadenylate deaminase activity
270	AMPD1	HP:0008331	Elevated creatine kinase after exercise
270	AMPD1	HP:0003690	Limb muscle weakness
270	AMPD1	HP:0009020	Exercise-induced muscle fatigue
270	AMPD1	HP:0003198	Myopathy
270	AMPD1	HP:0003202	Skeletal muscle atrophy
270	AMPD1	HP:0003201	Rhabdomyolysis
271	AMPD2	HP:0001276	Hypertonia
271	AMPD2	HP:0001288	Gait disturbance
271	AMPD2	HP:0001250	Seizure
271	AMPD2	HP:0001249	Intellectual disability
271	AMPD2	HP:0001263	Global developmental delay
271	AMPD2	HP:0001258	Spastic paraplegia
271	AMPD2	HP:0001257	Spasticity
271	AMPD2	HP:0002518	Abnormal periventricular white matter morphology
271	AMPD2	HP:0001347	Hyperreflexia
271	AMPD2	HP:0001332	Dystonia
271	AMPD2	HP:0001344	Absent speech
271	AMPD2	HP:0000007	Autosomal recessive inheritance
271	AMPD2	HP:0001321	Cerebellar hypoplasia
271	AMPD2	HP:0000188	Short upper lip
271	AMPD2	HP:0000158	Macroglossia
271	AMPD2	HP:0008936	Axial hypotonia
271	AMPD2	HP:0012110	Hypoplasia of the pons
271	AMPD2	HP:0025405	Visual fixation instability
271	AMPD2	HP:0002015	Dysphagia
271	AMPD2	HP:0011800	Midface retrusion
271	AMPD2	HP:0002079	Hypoplasia of the corpus callosum
271	AMPD2	HP:0003477	Peripheral axonal neuropathy
271	AMPD2	HP:0003487	Babinski sign
271	AMPD2	HP:0002151	Increased serum lactate
271	AMPD2	HP:0002120	Cerebral cortical atrophy
271	AMPD2	HP:0002119	Ventriculomegaly
271	AMPD2	HP:0002194	Delayed gross motor development
271	AMPD2	HP:0002169	Clonus
271	AMPD2	HP:0003593	Infantile onset
271	AMPD2	HP:0003577	Congenital onset
271	AMPD2	HP:0100704	Cerebral visual impairment
271	AMPD2	HP:0000648	Optic atrophy
271	AMPD2	HP:0004325	Decreased body weight
271	AMPD2	HP:0004322	Short stature
271	AMPD2	HP:0006970	Periventricular leukomalacia
271	AMPD2	HP:0006938	Impaired vibration sensation at ankles
271	AMPD2	HP:0031936	Delayed ability to walk
271	AMPD2	HP:0000737	Irritability
271	AMPD2	HP:0003202	Skeletal muscle atrophy
271	AMPD2	HP:0000297	Facial hypotonia
271	AMPD2	HP:0000377	Abnormal pinna morphology
271	AMPD2	HP:0000341	Narrow forehead
271	AMPD2	HP:0000486	Strabismus
271	AMPD2	HP:0000494	Downslanted palpebral fissures
271	AMPD2	HP:0012434	Delayed social development
271	AMPD2	HP:0012407	Scissor gait
271	AMPD2	HP:0005484	Secondary microcephaly
272	AMPD3	HP:0003738	Exercise-induced myalgia
272	AMPD3	HP:0003326	Myalgia
272	AMPD3	HP:0003394	Muscle spasm
272	AMPD3	HP:0002151	Increased serum lactate
272	AMPD3	HP:0008331	Elevated creatine kinase after exercise
272	AMPD3	HP:0003690	Limb muscle weakness
272	AMPD3	HP:0009020	Exercise-induced muscle fatigue
274	BIN1	HP:0002460	Distal muscle weakness
274	BIN1	HP:0003738	Exercise-induced myalgia
274	BIN1	HP:0003701	Proximal muscle weakness
274	BIN1	HP:0003700	Generalized amyotrophy
274	BIN1	HP:0001290	Generalized hypotonia
274	BIN1	HP:0100807	Long fingers
274	BIN1	HP:0001270	Motor delay
274	BIN1	HP:0001284	Areflexia
274	BIN1	HP:0001256	Intellectual disability, mild
274	BIN1	HP:0001260	Dysarthria
274	BIN1	HP:0002515	Waddling gait
274	BIN1	HP:0002522	Areflexia of lower limbs
274	BIN1	HP:0003803	Type 1 muscle fiber predominance
274	BIN1	HP:0001371	Flexion contracture
274	BIN1	HP:0000020	Urinary incontinence
274	BIN1	HP:0001349	Facial diplegia
274	BIN1	HP:0000028	Cryptorchidism
274	BIN1	HP:0008872	Feeding difficulties in infancy
274	BIN1	HP:0000007	Autosomal recessive inheritance
274	BIN1	HP:0002650	Scoliosis
274	BIN1	HP:0001319	Neonatal hypotonia
274	BIN1	HP:0000193	Bifid uvula
274	BIN1	HP:0000160	Narrow mouth
274	BIN1	HP:0008994	Proximal muscle weakness in lower limbs
274	BIN1	HP:0008997	Proximal muscle weakness in upper limbs
274	BIN1	HP:0008981	Calf muscle hypertrophy
274	BIN1	HP:0001436	Abnormality of the foot musculature
274	BIN1	HP:0002747	Respiratory insufficiency due to muscle weakness
274	BIN1	HP:0002021	Pyloric stenosis
274	BIN1	HP:0003327	Axial muscle weakness
274	BIN1	HP:0003307	Hyperlordosis
274	BIN1	HP:0003323	Progressive muscle weakness
274	BIN1	HP:0002093	Respiratory insufficiency
274	BIN1	HP:0003391	Gowers sign
274	BIN1	HP:0002047	Malignant hyperthermia
274	BIN1	HP:0008180	Mildly elevated creatine kinase
274	BIN1	HP:0003477	Peripheral axonal neuropathy
274	BIN1	HP:0003458	EMG: myopathic abnormalities
274	BIN1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
274	BIN1	HP:0002194	Delayed gross motor development
274	BIN1	HP:0010546	Muscle fibrillation
274	BIN1	HP:0003577	Congenital onset
274	BIN1	HP:0003551	Difficulty climbing stairs
274	BIN1	HP:0010628	Facial palsy
274	BIN1	HP:0001048	Cavernous hemangioma
274	BIN1	HP:0003691	Scapular winging
274	BIN1	HP:0002355	Difficulty walking
274	BIN1	HP:0003687	Centrally nucleated skeletal muscle fibers
274	BIN1	HP:0003621	Juvenile onset
274	BIN1	HP:0000602	Ophthalmoplegia
274	BIN1	HP:0009046	Difficulty running
274	BIN1	HP:0001999	Abnormal facial shape
274	BIN1	HP:0000750	Delayed speech and language development
274	BIN1	HP:0012768	Neonatal asphyxia
274	BIN1	HP:0004488	Macrocephaly at birth
274	BIN1	HP:0000883	Thin ribs
274	BIN1	HP:0003273	Hip contracture
274	BIN1	HP:0000278	Retrognathia
274	BIN1	HP:0000276	Long face
274	BIN1	HP:0002808	Kyphosis
274	BIN1	HP:0000218	High palate
274	BIN1	HP:0001562	Oligohydramnios
274	BIN1	HP:0001561	Polyhydramnios
274	BIN1	HP:0001558	Decreased fetal movement
274	BIN1	HP:0001520	Large for gestational age
274	BIN1	HP:0001511	Intrauterine growth retardation
274	BIN1	HP:0005268	Miscarriage
274	BIN1	HP:0001618	Dysphonia
274	BIN1	HP:0001654	Abnormal heart valve morphology
274	BIN1	HP:0001712	Left ventricular hypertrophy
274	BIN1	HP:0000411	Protruding ear
274	BIN1	HP:0001762	Talipes equinovarus
274	BIN1	HP:0001761	Pes cavus
274	BIN1	HP:0000508	Ptosis
274	BIN1	HP:0000597	Ophthalmoparesis
274	BIN1	HP:0000544	External ophthalmoplegia
275	AMT	HP:0001298	Encephalopathy
275	AMT	HP:0001290	Generalized hypotonia
275	AMT	HP:0001274	Agenesis of corpus callosum
275	AMT	HP:0001254	Lethargy
275	AMT	HP:0001250	Seizure
275	AMT	HP:0001252	Hypotonia
275	AMT	HP:0001249	Intellectual disability
275	AMT	HP:0001265	Hyporeflexia
275	AMT	HP:0001347	Hyperreflexia
275	AMT	HP:0000007	Autosomal recessive inheritance
275	AMT	HP:0001336	Myoclonus
275	AMT	HP:0002154	Hyperglycinemia
275	AMT	HP:0100710	Impulsivity
275	AMT	HP:0000752	Hyperactivity
275	AMT	HP:0000737	Irritability
275	AMT	HP:0000718	Aggressive behavior
275	AMT	HP:0000711	Restlessness
275	AMT	HP:0003108	Hyperglycinuria
275	AMT	HP:0100247	Recurrent singultus
275	AMT	HP:0001522	Death in infancy
283	ANG	HP:0002460	Distal muscle weakness
283	ANG	HP:0001257	Spasticity
283	ANG	HP:0007373	Motor neuron atrophy
283	ANG	HP:0007354	Amyotrophic lateral sclerosis
283	ANG	HP:0000006	Autosomal dominant inheritance
283	ANG	HP:0025425	Laryngospasm
283	ANG	HP:0002795	Abnormal respiratory system physiology
283	ANG	HP:0002017	Nausea and vomiting
283	ANG	HP:0003324	Generalized muscle weakness
283	ANG	HP:0002094	Dyspnea
283	ANG	HP:0003394	Muscle spasm
283	ANG	HP:0003470	Paralysis
283	ANG	HP:0002180	Neurodegeneration
283	ANG	HP:0003693	Distal amyotrophy
283	ANG	HP:0000739	Anxiety
283	ANG	HP:0000716	Depression
283	ANG	HP:0000712	Emotional lability
283	ANG	HP:0000713	Agitation
283	ANG	HP:0003202	Skeletal muscle atrophy
283	ANG	HP:0000217	Xerostomia
283	ANG	HP:0002878	Respiratory failure
283	ANG	HP:0012378	Fatigue
283	ANG	HP:0030196	Fatigable weakness of respiratory muscles
283	ANG	HP:0030195	Fatigable weakness of swallowing muscles
283	ANG	HP:0030192	Fatigable weakness of bulbar muscles
283	ANG	HP:0012531	Pain
284	ANGPT1	HP:0007514	Edema of the dorsum of hands
284	ANGPT1	HP:0000006	Autosomal dominant inheritance
284	ANGPT1	HP:0031244	Swollen lip
284	ANGPT1	HP:0033250	Nailfold capillary tortuosity
284	ANGPT1	HP:0100665	Angioedema
284	ANGPT1	HP:0000282	Facial edema
284	ANGPT1	HP:0030254	Nail bed hemorrhage
285	ANGPT2	HP:0000034	Hydrocele testis
285	ANGPT2	HP:0000006	Autosomal dominant inheritance
285	ANGPT2	HP:0003593	Infantile onset
285	ANGPT2	HP:0001004	Lymphedema
286	ANK1	HP:0025143	Chills
286	ANK1	HP:0008572	External ear malformation
286	ANK1	HP:0001250	Seizure
286	ANK1	HP:0001251	Ataxia
286	ANK1	HP:0001249	Intellectual disability
286	ANK1	HP:0001263	Global developmental delay
286	ANK1	HP:0008736	Hypoplasia of penis
286	ANK1	HP:0000044	Hypogonadotropic hypogonadism
286	ANK1	HP:0000028	Cryptorchidism
286	ANK1	HP:0000027	Azoospermia
286	ANK1	HP:0001324	Muscle weakness
286	ANK1	HP:0000007	Autosomal recessive inheritance
286	ANK1	HP:0000006	Autosomal dominant inheritance
286	ANK1	HP:0000135	Hypogonadism
286	ANK1	HP:0002027	Abdominal pain
286	ANK1	HP:0003326	Myalgia
286	ANK1	HP:0011900	Hypofibrinogenemia
286	ANK1	HP:0003593	Infantile onset
286	ANK1	HP:0002240	Hepatomegaly
286	ANK1	HP:0100724	Hypercoagulability
286	ANK1	HP:0011968	Feeding difficulties
286	ANK1	HP:0200042	Skin ulcer
286	ANK1	HP:0001081	Cholelithiasis
286	ANK1	HP:0003623	Neonatal onset
286	ANK1	HP:0003621	Juvenile onset
286	ANK1	HP:0005525	Spontaneous hemolytic crises
286	ANK1	HP:0005502	Increased red cell osmotic fragility
286	ANK1	HP:0000639	Nystagmus
286	ANK1	HP:0001978	Extramedullary hematopoiesis
286	ANK1	HP:0000612	Iris coloboma
286	ANK1	HP:0001945	Fever
286	ANK1	HP:0001923	Reticulocytosis
286	ANK1	HP:0001903	Anemia
286	ANK1	HP:0001997	Gout
286	ANK1	HP:0004322	Short stature
286	ANK1	HP:0011463	Childhood onset
286	ANK1	HP:0004444	Spherocytosis
286	ANK1	HP:0004467	Preauricular pit
286	ANK1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
286	ANK1	HP:0003270	Abdominal distention
286	ANK1	HP:0000980	Pallor
286	ANK1	HP:0000952	Jaundice
286	ANK1	HP:0000960	Sacral dimple
286	ANK1	HP:0005815	Supernumerary ribs
286	ANK1	HP:0040186	Maculopapular exanthema
286	ANK1	HP:0000286	Epicanthus
286	ANK1	HP:0025548	Increased mean corpuscular hemoglobin concentration
286	ANK1	HP:0000252	Microcephaly
286	ANK1	HP:0000218	High palate
286	ANK1	HP:0001510	Growth delay
286	ANK1	HP:0002904	Hyperbilirubinemia
286	ANK1	HP:0000347	Micrognathia
286	ANK1	HP:0000316	Hypertelorism
286	ANK1	HP:0001643	Patent ductus arteriosus
286	ANK1	HP:0001631	Atrial septal defect
286	ANK1	HP:0001634	Mitral valve prolapse
286	ANK1	HP:0001723	Restrictive cardiomyopathy
286	ANK1	HP:0005280	Depressed nasal bridge
286	ANK1	HP:0000482	Microcornea
286	ANK1	HP:0000458	Anosmia
286	ANK1	HP:0001744	Splenomegaly
286	ANK1	HP:0001762	Talipes equinovarus
286	ANK1	HP:0000582	Upslanted palpebral fissure
286	ANK1	HP:0000581	Blepharophimosis
286	ANK1	HP:0000556	Retinal dystrophy
286	ANK1	HP:0001878	Hemolytic anemia
287	ANK2	HP:0001197	Abnormality of prenatal development or birth
287	ANK2	HP:0001279	Syncope
287	ANK2	HP:0001250	Seizure
287	ANK2	HP:0000006	Autosomal dominant inheritance
287	ANK2	HP:0500018	Abnormal cardiac exercise stress test
287	ANK2	HP:0004308	Ventricular arrhythmia
287	ANK2	HP:0005135	Abnormal T-wave
287	ANK2	HP:0005110	Atrial fibrillation
287	ANK2	HP:0005184	Prolonged QTc interval
287	ANK2	HP:0002900	Hypokalemia
287	ANK2	HP:0000365	Hearing impairment
287	ANK2	HP:0001688	Sinus bradycardia
287	ANK2	HP:0012332	Abnormal autonomic nervous system physiology
287	ANK2	HP:0001664	Torsade de pointes
287	ANK2	HP:0001645	Sudden cardiac death
287	ANK2	HP:0001657	Prolonged QT interval
288	ANK3	HP:0003763	Bruxism
288	ANK3	HP:0001290	Generalized hypotonia
288	ANK3	HP:0001256	Intellectual disability, mild
288	ANK3	HP:0001250	Seizure
288	ANK3	HP:0001252	Hypotonia
288	ANK3	HP:0001249	Intellectual disability
288	ANK3	HP:0001263	Global developmental delay
288	ANK3	HP:0001257	Spasticity
288	ANK3	HP:0000007	Autosomal recessive inheritance
288	ANK3	HP:0002360	Sleep disturbance
288	ANK3	HP:0002342	Intellectual disability, moderate
288	ANK3	HP:0000752	Hyperactivity
288	ANK3	HP:0000750	Delayed speech and language development
288	ANK3	HP:0000718	Aggressive behavior
288	ANK3	HP:0000729	Autistic behavior
288	ANK3	HP:0000256	Macrocephaly
288	ANK3	HP:0000252	Microcephaly
288	ANK3	HP:0001520	Large for gestational age
291	SLC25A4	HP:0002490	Increased CSF lactate
291	SLC25A4	HP:0001131	Corneal dystrophy
291	SLC25A4	HP:0007302	Bipolar affective disorder
291	SLC25A4	HP:0003731	Quadriceps muscle weakness
291	SLC25A4	HP:0003737	Mitochondrial myopathy
291	SLC25A4	HP:0001290	Generalized hypotonia
291	SLC25A4	HP:0001276	Hypertonia
291	SLC25A4	HP:0001272	Cerebellar atrophy
291	SLC25A4	HP:0001288	Gait disturbance
291	SLC25A4	HP:0001254	Lethargy
291	SLC25A4	HP:0001256	Intellectual disability, mild
291	SLC25A4	HP:0001250	Seizure
291	SLC25A4	HP:0001251	Ataxia
291	SLC25A4	HP:0002578	Gastroparesis
291	SLC25A4	HP:0001265	Hyporeflexia
291	SLC25A4	HP:0001260	Dysarthria
291	SLC25A4	HP:0002540	Inability to walk
291	SLC25A4	HP:0003811	Neonatal death
291	SLC25A4	HP:0001392	Abnormality of the liver
291	SLC25A4	HP:0001349	Facial diplegia
291	SLC25A4	HP:0000017	Nocturia
291	SLC25A4	HP:0001324	Muscle weakness
291	SLC25A4	HP:0000007	Autosomal recessive inheritance
291	SLC25A4	HP:0001337	Tremor
291	SLC25A4	HP:0000006	Autosomal dominant inheritance
291	SLC25A4	HP:0012103	Abnormality of the mitochondrion
291	SLC25A4	HP:0002747	Respiratory insufficiency due to muscle weakness
291	SLC25A4	HP:0002020	Gastroesophageal reflux
291	SLC25A4	HP:0002019	Constipation
291	SLC25A4	HP:0003348	Hyperalaninemia
291	SLC25A4	HP:0002017	Nausea and vomiting
291	SLC25A4	HP:0003326	Myalgia
291	SLC25A4	HP:0002015	Dysphagia
291	SLC25A4	HP:0003324	Generalized muscle weakness
291	SLC25A4	HP:0100543	Cognitive impairment
291	SLC25A4	HP:0002094	Dyspnea
291	SLC25A4	HP:0002093	Respiratory insufficiency
291	SLC25A4	HP:0002067	Bradykinesia
291	SLC25A4	HP:0002066	Gait ataxia
291	SLC25A4	HP:0003394	Muscle spasm
291	SLC25A4	HP:0002063	Rigidity
291	SLC25A4	HP:0002076	Migraine
291	SLC25A4	HP:0002071	Abnormality of extrapyramidal motor function
291	SLC25A4	HP:0003388	Easy fatigability
291	SLC25A4	HP:0003477	Peripheral axonal neuropathy
291	SLC25A4	HP:0002151	Increased serum lactate
291	SLC25A4	HP:0003458	EMG: myopathic abnormalities
291	SLC25A4	HP:0003438	Absent Achilles reflex
291	SLC25A4	HP:0011924	Decreased activity of mitochondrial complex III
291	SLC25A4	HP:0011923	Decreased activity of mitochondrial complex I
291	SLC25A4	HP:0003577	Congenital onset
291	SLC25A4	HP:0100704	Cerebral visual impairment
291	SLC25A4	HP:0003581	Adult onset
291	SLC25A4	HP:0003551	Difficulty climbing stairs
291	SLC25A4	HP:0003547	Shoulder girdle muscle weakness
291	SLC25A4	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
291	SLC25A4	HP:0003546	Exercise intolerance
291	SLC25A4	HP:0007042	Focal white matter lesions
291	SLC25A4	HP:0008347	Decreased activity of mitochondrial complex IV
291	SLC25A4	HP:0010628	Facial palsy
291	SLC25A4	HP:0002396	Cogwheel rigidity
291	SLC25A4	HP:0003690	Limb muscle weakness
291	SLC25A4	HP:0002359	Frequent falls
291	SLC25A4	HP:0003688	Cytochrome C oxidase-negative muscle fibers
291	SLC25A4	HP:0003689	Multiple mitochondrial DNA deletions
291	SLC25A4	HP:0002375	Hypokinesia
291	SLC25A4	HP:0003676	Progressive
291	SLC25A4	HP:0003677	Slowly progressive
291	SLC25A4	HP:0002322	Resting tremor
291	SLC25A4	HP:0002315	Headache
291	SLC25A4	HP:0009830	Peripheral neuropathy
291	SLC25A4	HP:0004900	Severe lactic acidosis
291	SLC25A4	HP:0000639	Nystagmus
291	SLC25A4	HP:0001962	Palpitations
291	SLC25A4	HP:0001946	Ketosis
291	SLC25A4	HP:0001952	Glucose intolerance
291	SLC25A4	HP:0000602	Ophthalmoplegia
291	SLC25A4	HP:0012664	Reduced left ventricular ejection fraction
291	SLC25A4	HP:0001992	Organic aciduria
291	SLC25A4	HP:0004308	Ventricular arrhythmia
291	SLC25A4	HP:0000739	Anxiety
291	SLC25A4	HP:0000716	Depression
291	SLC25A4	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
291	SLC25A4	HP:0011462	Young adult onset
291	SLC25A4	HP:0003198	Myopathy
291	SLC25A4	HP:0003128	Lactic acidosis
291	SLC25A4	HP:0000853	Goiter
291	SLC25A4	HP:0000836	Hyperthyroidism
291	SLC25A4	HP:0000819	Diabetes mellitus
291	SLC25A4	HP:0000821	Hypothyroidism
291	SLC25A4	HP:0003236	Elevated circulating creatine kinase concentration
291	SLC25A4	HP:0003202	Skeletal muscle atrophy
291	SLC25A4	HP:0003200	Ragged-red muscle fibers
291	SLC25A4	HP:0000969	Edema
291	SLC25A4	HP:0000939	Osteoporosis
291	SLC25A4	HP:0011675	Arrhythmia
291	SLC25A4	HP:0005110	Atrial fibrillation
291	SLC25A4	HP:0002875	Exertional dyspnea
291	SLC25A4	HP:0001522	Death in infancy
291	SLC25A4	HP:0001508	Failure to thrive
291	SLC25A4	HP:0001513	Obesity
291	SLC25A4	HP:0012378	Fatigue
291	SLC25A4	HP:0002910	Elevated hepatic transaminase
291	SLC25A4	HP:0000365	Hearing impairment
291	SLC25A4	HP:0000338	Hypomimic face
291	SLC25A4	HP:0001644	Dilated cardiomyopathy
291	SLC25A4	HP:0030148	Heart murmur
291	SLC25A4	HP:0001639	Hypertrophic cardiomyopathy
291	SLC25A4	HP:0000407	Sensorineural hearing impairment
291	SLC25A4	HP:0001712	Left ventricular hypertrophy
291	SLC25A4	HP:0000486	Strabismus
291	SLC25A4	HP:0000496	Abnormality of eye movement
291	SLC25A4	HP:0001771	Achilles tendon contracture
291	SLC25A4	HP:0000518	Cataract
291	SLC25A4	HP:0000512	Abnormal electroretinogram
291	SLC25A4	HP:0000508	Ptosis
291	SLC25A4	HP:0000505	Visual impairment
291	SLC25A4	HP:0000501	Glaucoma
291	SLC25A4	HP:0000597	Ophthalmoparesis
291	SLC25A4	HP:0000590	Progressive external ophthalmoplegia
291	SLC25A4	HP:0000545	Myopia
291	SLC25A4	HP:0000544	External ophthalmoplegia
308	ANXA5	HP:0000006	Autosomal dominant inheritance
308	ANXA5	HP:0200067	Recurrent spontaneous abortion
308	ANXA5	HP:0011462	Young adult onset
311	ANXA11	HP:0001284	Areflexia
311	ANXA11	HP:0001265	Hyporeflexia
311	ANXA11	HP:0001260	Dysarthria
311	ANXA11	HP:0001257	Spasticity
311	ANXA11	HP:0033685	Fiber type grouping
311	ANXA11	HP:0007373	Motor neuron atrophy
311	ANXA11	HP:0007354	Amyotrophic lateral sclerosis
311	ANXA11	HP:0003805	Rimmed vacuoles
311	ANXA11	HP:0000006	Autosomal dominant inheritance
311	ANXA11	HP:0025425	Laryngospasm
311	ANXA11	HP:0008994	Proximal muscle weakness in lower limbs
311	ANXA11	HP:0008997	Proximal muscle weakness in upper limbs
311	ANXA11	HP:0002795	Abnormal respiratory system physiology
311	ANXA11	HP:0002017	Nausea and vomiting
311	ANXA11	HP:0002015	Dysphagia
311	ANXA11	HP:0003324	Generalized muscle weakness
311	ANXA11	HP:0100543	Cognitive impairment
311	ANXA11	HP:0002094	Dyspnea
311	ANXA11	HP:0003394	Muscle spasm
311	ANXA11	HP:0003470	Paralysis
311	ANXA11	HP:0003487	Babinski sign
311	ANXA11	HP:0003419	Low back pain
311	ANXA11	HP:0002180	Neurodegeneration
311	ANXA11	HP:0003596	Middle age onset
311	ANXA11	HP:0003584	Late onset
311	ANXA11	HP:0003557	Increased variability in muscle fiber diameter
311	ANXA11	HP:0002380	Fasciculations
311	ANXA11	HP:0002398	Degeneration of anterior horn cells
311	ANXA11	HP:0003691	Scapular winging
311	ANXA11	HP:0003687	Centrally nucleated skeletal muscle fibers
311	ANXA11	HP:0002307	Drooling
311	ANXA11	HP:0034045	Angulated muscle fibers
311	ANXA11	HP:0009023	Abdominal wall muscle weakness
311	ANXA11	HP:0000739	Anxiety
311	ANXA11	HP:0000716	Depression
311	ANXA11	HP:0000712	Emotional lability
311	ANXA11	HP:0000713	Agitation
311	ANXA11	HP:0000726	Dementia
311	ANXA11	HP:0003236	Elevated circulating creatine kinase concentration
311	ANXA11	HP:0003202	Skeletal muscle atrophy
311	ANXA11	HP:0100297	Increased endomysial connective tissue
311	ANXA11	HP:0000217	Xerostomia
311	ANXA11	HP:0002878	Respiratory failure
311	ANXA11	HP:0030007	EMG: positive sharp waves
311	ANXA11	HP:0012378	Fatigue
311	ANXA11	HP:0030196	Fatigable weakness of respiratory muscles
311	ANXA11	HP:0030195	Fatigable weakness of swallowing muscles
311	ANXA11	HP:0030192	Fatigable weakness of bulbar muscles
311	ANXA11	HP:0030319	Weakness of facial musculature
311	ANXA11	HP:0025710	Late young adult onset
311	ANXA11	HP:0000508	Ptosis
311	ANXA11	HP:0012548	Fatty replacement of skeletal muscle
311	ANXA11	HP:0012531	Pain
318	NUDT2	HP:0002454	Eye of the tiger anomaly of globus pallidus
318	NUDT2	HP:0001270	Motor delay
318	NUDT2	HP:0001252	Hypotonia
318	NUDT2	HP:0001263	Global developmental delay
318	NUDT2	HP:0033725	Thin corpus callosum
318	NUDT2	HP:0000007	Autosomal recessive inheritance
318	NUDT2	HP:0002033	Poor suck
318	NUDT2	HP:0003577	Congenital onset
318	NUDT2	HP:0002359	Frequent falls
318	NUDT2	HP:0002317	Unsteady gait
318	NUDT2	HP:0003623	Neonatal onset
318	NUDT2	HP:0006889	Intellectual disability, borderline
318	NUDT2	HP:0000664	Synophrys
318	NUDT2	HP:0031936	Delayed ability to walk
318	NUDT2	HP:0000750	Delayed speech and language development
318	NUDT2	HP:0000278	Retrognathia
318	NUDT2	HP:0000294	Low anterior hairline
318	NUDT2	HP:0001518	Small for gestational age
318	NUDT2	HP:0000431	Wide nasal bridge
324	APC	HP:0001137	Alternating esotropia
324	APC	HP:0001103	Abnormal macular morphology
324	APC	HP:0001115	Posterior polar cataract
324	APC	HP:0010935	Abnormality of the upper urinary tract
324	APC	HP:0001290	Generalized hypotonia
324	APC	HP:0100806	Sepsis
324	APC	HP:0002584	Intestinal bleeding
324	APC	HP:0001256	Intellectual disability, mild
324	APC	HP:0001251	Ataxia
324	APC	HP:0002573	Hematochezia
324	APC	HP:0006101	Finger syndactyly
324	APC	HP:0008678	Renal hypoplasia/aplasia
324	APC	HP:0002516	Increased intracranial pressure
324	APC	HP:0025388	Thyroid nodule
324	APC	HP:0000077	Abnormality of the kidney
324	APC	HP:0001376	Limitation of joint mobility
324	APC	HP:0012032	Lipoma
324	APC	HP:0007477	Abnormal dermatoglyphics
324	APC	HP:0002672	Gastrointestinal carcinoma
324	APC	HP:0002671	Basal cell carcinoma
324	APC	HP:0002665	Lymphoma
324	APC	HP:0000006	Autosomal dominant inheritance
324	APC	HP:0002650	Scoliosis
324	APC	HP:0033769	Fundic gland polyposis
324	APC	HP:0033770	Gastric adenocarcinoma
324	APC	HP:0012174	Glioblastoma multiforme
324	APC	HP:0012165	Oligodactyly
324	APC	HP:0000164	Abnormality of the dentition
324	APC	HP:0000160	Narrow mouth
324	APC	HP:0012125	Prostate cancer
324	APC	HP:0012126	Stomach cancer
324	APC	HP:0002797	Osteolysis
324	APC	HP:0001482	Subcutaneous nodule
324	APC	HP:0410067	Increased level of L-fucose in urine
324	APC	HP:0007649	Congenital hypertrophy of retinal pigment epithelium
324	APC	HP:0002705	High, narrow palate
324	APC	HP:0006283	Multiple unerupted teeth
324	APC	HP:0000126	Hydronephrosis
324	APC	HP:0001428	Somatic mutation
324	APC	HP:0001402	Hepatocellular carcinoma
324	APC	HP:0001413	Micronodular cirrhosis
324	APC	HP:0002024	Malabsorption
324	APC	HP:0002018	Nausea
324	APC	HP:0002019	Constipation
324	APC	HP:0002027	Abdominal pain
324	APC	HP:0003326	Myalgia
324	APC	HP:0002014	Diarrhea
324	APC	HP:0002013	Vomiting
324	APC	HP:0002007	Frontal bossing
324	APC	HP:0003312	Abnormal form of the vertebral bodies
324	APC	HP:0002064	Spastic gait
324	APC	HP:0005916	Abnormal metacarpal morphology
324	APC	HP:0004783	Duodenal polyposis
324	APC	HP:0004736	Crossed fused renal ectopia
324	APC	HP:0002162	Low posterior hairline
324	APC	HP:0002176	Spinal cord compression
324	APC	HP:0008256	Adrenocortical adenoma
324	APC	HP:0010562	Keloids
324	APC	HP:0010522	Dyslexia
324	APC	HP:0009592	Astrocytoma
324	APC	HP:0003596	Middle age onset
324	APC	HP:0002239	Gastrointestinal hemorrhage
324	APC	HP:0002249	Melena
324	APC	HP:0002234	Early balding
324	APC	HP:0009733	Glioma
324	APC	HP:0100749	Chest pain
324	APC	HP:0010619	Fibroadenoma of the breast
324	APC	HP:0010614	Fibroma
324	APC	HP:0001012	Multiple lipomas
324	APC	HP:0002342	Intellectual disability, moderate
324	APC	HP:0002315	Headache
324	APC	HP:0001000	Abnormality of skin pigmentation
324	APC	HP:0200008	Intestinal polyposis
324	APC	HP:0200063	Colorectal polyposis
324	APC	HP:0200040	Epidermoid cyst
324	APC	HP:0001085	Papilledema
324	APC	HP:0007129	Cerebellar medulloblastoma
324	APC	HP:0009778	Short thumb
324	APC	HP:0030553	Visual acuity no light perception
324	APC	HP:0004298	Abnormality of the abdominal wall
324	APC	HP:0005584	Renal cell carcinoma
324	APC	HP:0000639	Nystagmus
324	APC	HP:0001909	Leukemia
324	APC	HP:0000682	Abnormal dental enamel morphology
324	APC	HP:0000656	Ectropion
324	APC	HP:0000670	Carious teeth
324	APC	HP:0000668	Hypodontia
324	APC	HP:0003002	Breast carcinoma
324	APC	HP:0003003	Colon cancer
324	APC	HP:0030692	Brain neoplasm
324	APC	HP:0004394	Multiple gastric polyps
324	APC	HP:0003042	Elbow dislocation
324	APC	HP:0003011	Abnormality of the musculature
324	APC	HP:0003022	Hypoplasia of the ulna
324	APC	HP:0100014	Epiretinal membrane
324	APC	HP:0100006	Neoplasm of the central nervous system
324	APC	HP:0000772	Abnormal rib morphology
324	APC	HP:0000706	Eruption failure
324	APC	HP:0011459	Esophageal carcinoma
324	APC	HP:0011462	Young adult onset
324	APC	HP:0030731	Carcinoma
324	APC	HP:0003196	Short nose
324	APC	HP:0004482	Relative macrocephaly
324	APC	HP:0011512	Hyperpigmentation of the fundus
324	APC	HP:0000821	Hypothyroidism
324	APC	HP:0100246	Osteoma
324	APC	HP:0000957	Cafe-au-lait spot
324	APC	HP:0000954	Single transverse palmar crease
324	APC	HP:0000953	Hyperpigmentation of the skin
324	APC	HP:0100240	Synostosis of joints
324	APC	HP:0100244	Fibrosarcoma
324	APC	HP:0100245	Desmoid tumors
324	APC	HP:0008069	Neoplasm of the skin
324	APC	HP:0007703	Abnormality of retinal pigmentation
324	APC	HP:0000276	Long face
324	APC	HP:0000272	Malar flattening
324	APC	HP:0007766	Optic disc hypoplasia
324	APC	HP:0002829	Arthralgia
324	APC	HP:0002827	Hip dislocation
324	APC	HP:0005048	Synostosis of carpal bones
324	APC	HP:0002884	Hepatoblastoma
324	APC	HP:0000218	High palate
324	APC	HP:0000215	Thick upper lip vermilion
324	APC	HP:0002894	Neoplasm of the pancreas
324	APC	HP:0002895	Papillary thyroid carcinoma
324	APC	HP:0002893	Pituitary adenoma
324	APC	HP:0002890	Thyroid carcinoma
324	APC	HP:0002891	Uterine leiomyosarcoma
324	APC	HP:0002888	Ependymoma
324	APC	HP:0002885	Medulloblastoma
324	APC	HP:0011069	Supernumerary tooth
324	APC	HP:0011078	Abnormality of canine
324	APC	HP:0011068	Odontoma
324	APC	HP:0031524	Ampulla of Vater carcinoma
324	APC	HP:0006572	Subacute progressive viral hepatitis
324	APC	HP:0005214	Intestinal obstruction
324	APC	HP:0005227	Adenomatous colonic polyposis
324	APC	HP:0006536	Airway obstruction
324	APC	HP:0001601	Laryngomalacia
324	APC	HP:0000365	Hearing impairment
324	APC	HP:0000343	Long philtrum
324	APC	HP:0031459	Soft tissue neoplasm
324	APC	HP:0000348	High forehead
324	APC	HP:0000347	Micrognathia
324	APC	HP:0002983	Micromelia
324	APC	HP:0000316	Hypertelorism
324	APC	HP:0002974	Radioulnar synostosis
324	APC	HP:0000322	Short philtrum
324	APC	HP:0002984	Hypoplasia of the radius
324	APC	HP:0000303	Mandibular prognathia
324	APC	HP:0000494	Downslanted palpebral fissures
324	APC	HP:0000455	Broad nasal tip
324	APC	HP:0000470	Short neck
324	APC	HP:0001770	Toe syndactyly
324	APC	HP:0000444	Convex nasal ridge
324	APC	HP:0000411	Protruding ear
324	APC	HP:0006753	Neoplasm of the stomach
324	APC	HP:0006740	Transitional cell carcinoma of the bladder
324	APC	HP:0006744	Adrenocortical carcinoma
324	APC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
324	APC	HP:0006722	Small intestine carcinoid
324	APC	HP:0030434	Pilomatrixoma
324	APC	HP:0006771	Duodenal adenocarcinoma
324	APC	HP:0001849	Foot oligodactyly
324	APC	HP:0000518	Cataract
324	APC	HP:0000520	Proptosis
324	APC	HP:0000508	Ptosis
324	APC	HP:0000505	Visual impairment
324	APC	HP:0001802	Absent toenail
324	APC	HP:0001817	Absent fingernail
324	APC	HP:0001891	Iron deficiency anemia
326	AIRE	HP:0001133	Constriction of peripheral visual field
326	AIRE	HP:0002582	Atrophic gastritis
326	AIRE	HP:0001231	Abnormal fingernail morphology
326	AIRE	HP:0002514	Cerebral calcification
326	AIRE	HP:0000026	Male hypogonadism
326	AIRE	HP:0000007	Autosomal recessive inheritance
326	AIRE	HP:0000006	Autosomal dominant inheritance
326	AIRE	HP:0007663	Reduced visual acuity
326	AIRE	HP:0006297	Enamel hypoplasia
326	AIRE	HP:0000121	Nephrocalcinosis
326	AIRE	HP:0000134	Female hypogonadism
326	AIRE	HP:0002728	Chronic mucocutaneous candidiasis
326	AIRE	HP:0002024	Malabsorption
326	AIRE	HP:0002014	Diarrhea
326	AIRE	HP:0100530	Abnormal calcium-phosphate regulating hormone level
326	AIRE	HP:0008221	Adrenal hyperplasia
326	AIRE	HP:0008209	Premature ovarian insufficiency
326	AIRE	HP:0008207	Primary adrenal insufficiency
326	AIRE	HP:0008404	Nail dystrophy
326	AIRE	HP:0200120	Chronic active hepatitis
326	AIRE	HP:0002289	Alopecia universalis
326	AIRE	HP:0001053	Hypopigmented skin patches
326	AIRE	HP:0001045	Vitiligo
326	AIRE	HP:0100651	Type I diabetes mellitus
326	AIRE	HP:0100659	Abnormal cerebral vascular morphology
326	AIRE	HP:0001096	Keratoconjunctivitis
326	AIRE	HP:0001094	Iridocyclitis
326	AIRE	HP:0001081	Cholelithiasis
326	AIRE	HP:0020123	Tympanosclerosis
326	AIRE	HP:0009098	Chronic oral candidiasis
326	AIRE	HP:0031817	Decreased circulating parathyroid hormone level
326	AIRE	HP:0000613	Photophobia
326	AIRE	HP:0004319	Decreased circulating aldosterone level
326	AIRE	HP:0030629	Perifoveal ring of hyperautofluorescence
326	AIRE	HP:0011463	Childhood onset
326	AIRE	HP:0003118	Increased circulating cortisol level
326	AIRE	HP:0000846	Adrenal insufficiency
326	AIRE	HP:0000829	Hypoparathyroidism
326	AIRE	HP:0000821	Hypothyroidism
326	AIRE	HP:0001596	Alopecia
326	AIRE	HP:0007759	Opacification of the corneal stroma
326	AIRE	HP:0002960	Autoimmunity
326	AIRE	HP:0001746	Asplenia
326	AIRE	HP:0000518	Cataract
326	AIRE	HP:0000505	Visual impairment
326	AIRE	HP:0000580	Pigmentary retinopathy
330	BIRC3	HP:0012191	B-cell lymphoma
330	BIRC3	HP:0012123	Posterior uveitis
330	BIRC3	HP:0002716	Lymphadenopathy
330	BIRC3	HP:0002019	Constipation
330	BIRC3	HP:0002017	Nausea and vomiting
330	BIRC3	HP:0002027	Abdominal pain
330	BIRC3	HP:0002113	Pulmonary infiltrates
330	BIRC3	HP:0002205	Recurrent respiratory infections
330	BIRC3	HP:0100721	Mediastinal lymphadenopathy
330	BIRC3	HP:0000614	Abnormal nasolacrimal system morphology
330	BIRC3	HP:0001945	Fever
330	BIRC3	HP:0001903	Anemia
330	BIRC3	HP:0000820	Abnormality of the thyroid gland
330	BIRC3	HP:0000975	Hyperhidrosis
330	BIRC3	HP:0012378	Fatigue
330	BIRC3	HP:0001824	Weight loss
330	BIRC3	HP:0000505	Visual impairment
331	XIAP	HP:0002480	Hepatic encephalopathy
331	XIAP	HP:0100827	Lymphocytosis
331	XIAP	HP:0001287	Meningitis
331	XIAP	HP:0002583	Colitis
331	XIAP	HP:0010975	Abnormal B cell count
331	XIAP	HP:0001399	Hepatic failure
331	XIAP	HP:0002665	Lymphoma
331	XIAP	HP:0002633	Vasculitis
331	XIAP	HP:0012178	Reduced natural killer cell activity
331	XIAP	HP:0012156	Hemophagocytosis
331	XIAP	HP:0012115	Hepatitis
331	XIAP	HP:0001419	X-linked recessive inheritance
331	XIAP	HP:0001417	X-linked inheritance
331	XIAP	HP:0002719	Recurrent infections
331	XIAP	HP:0002716	Lymphadenopathy
331	XIAP	HP:0002721	Immunodeficiency
331	XIAP	HP:0002037	Inflammation of the large intestine
331	XIAP	HP:0002155	Hypertriglyceridemia
331	XIAP	HP:0004787	Fulminant hepatitis
331	XIAP	HP:0011900	Hypofibrinogenemia
331	XIAP	HP:0003496	Increased circulating IgM level
331	XIAP	HP:0011839	Abnormal T cell count
331	XIAP	HP:0002240	Hepatomegaly
331	XIAP	HP:0002205	Recurrent respiratory infections
331	XIAP	HP:0100776	Recurrent pharyngitis
331	XIAP	HP:0002383	Infectious encephalitis
331	XIAP	HP:0001061	Acne
331	XIAP	HP:0025084	Folliculitis
331	XIAP	HP:0001945	Fever
331	XIAP	HP:0001954	Recurrent fever
331	XIAP	HP:0001915	Aplastic anemia
331	XIAP	HP:0004315	Decreased circulating IgG level
331	XIAP	HP:0004313	Decreased circulating antibody level
331	XIAP	HP:0003073	Hypoalbuminemia
331	XIAP	HP:0011463	Childhood onset
331	XIAP	HP:0003281	Increased circulating ferritin concentration
331	XIAP	HP:0030080	Burkitt lymphoma
331	XIAP	HP:0001581	Recurrent skin infections
331	XIAP	HP:0012219	Erythema nodosum
331	XIAP	HP:0002961	Dysgammaglobulinemia
331	XIAP	HP:0001744	Splenomegaly
331	XIAP	HP:0031693	Severe Epstein Barr virus infection
331	XIAP	HP:0011227	Elevated circulating C-reactive protein concentration
331	XIAP	HP:0001873	Thrombocytopenia
331	XIAP	HP:0001876	Pancytopenia
331	XIAP	HP:0001875	Neutropenia
335	APOA1	HP:0001114	Xanthelasma
335	APOA1	HP:0010874	Tendon xanthomatosis
335	APOA1	HP:0000093	Proteinuria
335	APOA1	HP:0001396	Cholestasis
335	APOA1	HP:0000007	Autosomal recessive inheritance
335	APOA1	HP:0000006	Autosomal dominant inheritance
335	APOA1	HP:0002621	Atherosclerosis
335	APOA1	HP:0000100	Nephrotic syndrome
335	APOA1	HP:0000112	Nephropathy
335	APOA1	HP:0002240	Hepatomegaly
335	APOA1	HP:0009830	Peripheral neuropathy
335	APOA1	HP:0001084	Corneal arcus
335	APOA1	HP:0000622	Blurred vision
335	APOA1	HP:0031799	Decreased circulating apolipoprotein A-I concentration
335	APOA1	HP:0011462	Young adult onset
335	APOA1	HP:0000790	Hematuria
335	APOA1	HP:0003119	Abnormal circulating lipid concentration
335	APOA1	HP:0000822	Hypertension
335	APOA1	HP:0003233	Decreased HDL cholesterol concentration
335	APOA1	HP:0003216	Generalized amyloid deposition
335	APOA1	HP:0000991	Xanthomatosis
335	APOA1	HP:0000988	Skin rash
335	APOA1	HP:0000969	Edema
335	APOA1	HP:0007759	Opacification of the corneal stroma
335	APOA1	HP:0005181	Premature coronary artery atherosclerosis
335	APOA1	HP:0001681	Angina pectoris
335	APOA1	HP:0001744	Splenomegaly
335	APOA1	HP:0000518	Cataract
336	APOA2	HP:0001114	Xanthelasma
336	APOA2	HP:0010874	Tendon xanthomatosis
336	APOA2	HP:0000007	Autosomal recessive inheritance
336	APOA2	HP:0000006	Autosomal dominant inheritance
336	APOA2	HP:0001084	Corneal arcus
336	APOA2	HP:0003141	Increased LDL cholesterol concentration
336	APOA2	HP:0001677	Coronary artery atherosclerosis
338	APOB	HP:0001138	Optic neuropathy
338	APOB	HP:0001114	Xanthelasma
338	APOB	HP:0010874	Tendon xanthomatosis
338	APOB	HP:0001251	Ataxia
338	APOB	HP:0002570	Steatorrhea
338	APOB	HP:0001397	Hepatic steatosis
338	APOB	HP:0000007	Autosomal recessive inheritance
338	APOB	HP:0000006	Autosomal dominant inheritance
338	APOB	HP:0001315	Reduced tendon reflexes
338	APOB	HP:0002094	Dyspnea
338	APOB	HP:0100513	Low levels of vitamin E
338	APOB	HP:0002155	Hypertriglyceridemia
338	APOB	HP:0003593	Infantile onset
338	APOB	HP:0003563	Decreased LDL cholesterol concentration
338	APOB	HP:0007201	Cerebral artery atherosclerosis
338	APOB	HP:0001084	Corneal arcus
338	APOB	HP:0004963	Calcification of the aorta
338	APOB	HP:0004950	Peripheral arterial stenosis
338	APOB	HP:0004905	Low levels of vitamin A
338	APOB	HP:0001927	Acanthocytosis
338	APOB	HP:0001920	Renal artery stenosis
338	APOB	HP:0012638	Abnormal nervous system physiology
338	APOB	HP:0031956	Elevated circulating aspartate aminotransferase concentration
338	APOB	HP:0031964	Elevated circulating alanine aminotransferase concentration
338	APOB	HP:0003077	Hyperlipidemia
338	APOB	HP:0004381	Supravalvular aortic stenosis
338	APOB	HP:0000799	Renal steatosis
338	APOB	HP:0003124	Hypercholesterolemia
338	APOB	HP:0004416	Precocious atherosclerosis
338	APOB	HP:0003146	Hypocholesterolemia
338	APOB	HP:0003141	Increased LDL cholesterol concentration
338	APOB	HP:0000822	Hypertension
338	APOB	HP:0003233	Decreased HDL cholesterol concentration
338	APOB	HP:0030882	Coronary artery aneurysm
338	APOB	HP:0100261	Abnormal tendon morphology
338	APOB	HP:0000991	Xanthomatosis
338	APOB	HP:0002829	Arthralgia
338	APOB	HP:0012397	Aortic atherosclerotic lesion
338	APOB	HP:0012373	Abnormal eye physiology
338	APOB	HP:0005177	Premature arteriosclerosis
338	APOB	HP:0005181	Premature coronary artery atherosclerosis
338	APOB	HP:0005162	Abnormal left ventricular function
338	APOB	HP:0001681	Angina pectoris
338	APOB	HP:0001677	Coronary artery atherosclerosis
338	APOB	HP:0001645	Sudden cardiac death
338	APOB	HP:0030148	Heart murmur
338	APOB	HP:0001658	Myocardial infarction
338	APOB	HP:0001653	Mitral regurgitation
338	APOB	HP:0006693	Myocardial steatosis
338	APOB	HP:3000062	Abnormal internal carotid artery morphology
338	APOB	HP:0000510	Rod-cone dystrophy
338	APOB	HP:0000546	Retinal degeneration
344	APOC2	HP:0000007	Autosomal recessive inheritance
344	APOC2	HP:0002155	Hypertriglyceridemia
344	APOC2	HP:0002240	Hepatomegaly
344	APOC2	HP:0001013	Eruptive xanthomas
344	APOC2	HP:0000660	Lipemia retinalis
344	APOC2	HP:0003124	Hypercholesterolemia
344	APOC2	HP:0012238	Increased circulating chylomicron concentration
344	APOC2	HP:0033983	Decreased circulating apolipoprotein C-II concentration
344	APOC2	HP:0001733	Pancreatitis
344	APOC2	HP:0001744	Splenomegaly
345	APOC3	HP:0010874	Tendon xanthomatosis
345	APOC3	HP:0010980	Hyperlipoproteinemia
345	APOC3	HP:0012184	Increased HDL cholesterol concentration
345	APOC3	HP:0012153	Hypotriglyceridemia
345	APOC3	HP:0003563	Decreased LDL cholesterol concentration
345	APOC3	HP:0003077	Hyperlipidemia
345	APOC3	HP:0003124	Hypercholesterolemia
345	APOC3	HP:0004416	Precocious atherosclerosis
348	APOE	HP:0001114	Xanthelasma
348	APOE	HP:0010874	Tendon xanthomatosis
348	APOE	HP:0002423	Long-tract signs
348	APOE	HP:0100820	Glomerulopathy
348	APOE	HP:0001288	Gait disturbance
348	APOE	HP:0001285	Spastic tetraparesis
348	APOE	HP:0001250	Seizure
348	APOE	HP:0001260	Dysarthria
348	APOE	HP:0002511	Alzheimer disease
348	APOE	HP:0000083	Renal insufficiency
348	APOE	HP:0000093	Proteinuria
348	APOE	HP:0001397	Hepatic steatosis
348	APOE	HP:0001394	Cirrhosis
348	APOE	HP:0001332	Dystonia
348	APOE	HP:0000007	Autosomal recessive inheritance
348	APOE	HP:0000006	Autosomal dominant inheritance
348	APOE	HP:0001336	Myoclonus
348	APOE	HP:0002635	Type IV atherosclerotic lesion
348	APOE	HP:0001300	Parkinsonism
348	APOE	HP:0001482	Subcutaneous nodule
348	APOE	HP:0002015	Dysphagia
348	APOE	HP:0100543	Cognitive impairment
348	APOE	HP:0002071	Abnormality of extrapyramidal motor function
348	APOE	HP:0002155	Hypertriglyceridemia
348	APOE	HP:0003487	Babinski sign
348	APOE	HP:0002120	Cerebral cortical atrophy
348	APOE	HP:0002113	Pulmonary infiltrates
348	APOE	HP:0002186	Apraxia
348	APOE	HP:0002185	Neurofibrillary tangles
348	APOE	HP:0010524	Agnosia
348	APOE	HP:0003596	Middle age onset
348	APOE	HP:0002240	Hepatomegaly
348	APOE	HP:0003584	Late onset
348	APOE	HP:0003581	Adult onset
348	APOE	HP:0002221	Absent axillary hair
348	APOE	HP:0100721	Mediastinal lymphadenopathy
348	APOE	HP:0011970	Cerebral amyloid angiopathy
348	APOE	HP:0002395	Lower limb hyperreflexia
348	APOE	HP:0001010	Hypopigmentation of the skin
348	APOE	HP:0002354	Memory impairment
348	APOE	HP:0003678	Rapidly progressive
348	APOE	HP:0003651	Foam cells
348	APOE	HP:0001084	Corneal arcus
348	APOE	HP:0004950	Peripheral arterial stenosis
348	APOE	HP:0004943	Accelerated atherosclerosis
348	APOE	HP:0031868	Optic ataxia
348	APOE	HP:0001982	Sea-blue histiocytosis
348	APOE	HP:0000608	Macular degeneration
348	APOE	HP:0030499	Macular drusen
348	APOE	HP:0012662	Parietal hypometabolism in FDG PET
348	APOE	HP:0012643	Foveal hypopigmentation
348	APOE	HP:0001997	Gout
348	APOE	HP:0031956	Elevated circulating aspartate aminotransferase concentration
348	APOE	HP:0006979	Sleep-wake cycle disturbance
348	APOE	HP:0031964	Elevated circulating alanine aminotransferase concentration
348	APOE	HP:0000751	Personality changes
348	APOE	HP:0000726	Dementia
348	APOE	HP:0000799	Renal steatosis
348	APOE	HP:0003124	Hypercholesterolemia
348	APOE	HP:0003141	Increased LDL cholesterol concentration
348	APOE	HP:0011506	Choroidal neovascularization
348	APOE	HP:0000819	Diabetes mellitus
348	APOE	HP:0000821	Hypothyroidism
348	APOE	HP:0003233	Decreased HDL cholesterol concentration
348	APOE	HP:0100256	Senile plaques
348	APOE	HP:0000953	Hyperpigmentation of the skin
348	APOE	HP:0000951	Abnormality of the skin
348	APOE	HP:0000969	Edema
348	APOE	HP:0000967	Petechiae
348	APOE	HP:0025574	Macular hemorrhage
348	APOE	HP:0001513	Obesity
348	APOE	HP:0012397	Aortic atherosclerotic lesion
348	APOE	HP:0005181	Premature coronary artery atherosclerosis
348	APOE	HP:0001681	Angina pectoris
348	APOE	HP:0031609	Geographic atrophy
348	APOE	HP:0000498	Blepharitis
348	APOE	HP:0001735	Acute pancreatitis
348	APOE	HP:0000488	Retinopathy
348	APOE	HP:0001744	Splenomegaly
348	APOE	HP:0000529	Progressive visual loss
348	APOE	HP:0012574	Mesangial hypercellularity
348	APOE	HP:0001892	Abnormal bleeding
348	APOE	HP:0001873	Thrombocytopenia
351	APP	HP:0002463	Language impairment
351	APP	HP:0003791	Deposits immunoreactive to beta-amyloid protein
351	APP	HP:0002423	Long-tract signs
351	APP	HP:0001297	Stroke
351	APP	HP:0001276	Hypertonia
351	APP	HP:0001268	Mental deterioration
351	APP	HP:0001289	Confusion
351	APP	HP:0001288	Gait disturbance
351	APP	HP:0001250	Seizure
351	APP	HP:0001251	Ataxia
351	APP	HP:0001249	Intellectual disability
351	APP	HP:0001263	Global developmental delay
351	APP	HP:0001259	Coma
351	APP	HP:0002514	Cerebral calcification
351	APP	HP:0002511	Alzheimer disease
351	APP	HP:0001342	Cerebral hemorrhage
351	APP	HP:0000006	Autosomal dominant inheritance
351	APP	HP:0001336	Myoclonus
351	APP	HP:0002637	Cerebral ischemia
351	APP	HP:0001300	Parkinsonism
351	APP	HP:0410054	Decreased circulating GABA concentration
351	APP	HP:0002015	Dysphagia
351	APP	HP:0002076	Migraine
351	APP	HP:0003474	Somatic sensory dysfunction
351	APP	HP:0002138	Subarachnoid hemorrhage
351	APP	HP:0002120	Cerebral cortical atrophy
351	APP	HP:0002186	Apraxia
351	APP	HP:0002185	Neurofibrillary tangles
351	APP	HP:0010526	Dysgraphia
351	APP	HP:0010525	Finger agnosia
351	APP	HP:0003401	Paresthesia
351	APP	HP:0003596	Middle age onset
351	APP	HP:0003584	Late onset
351	APP	HP:0003581	Adult onset
351	APP	HP:0011970	Cerebral amyloid angiopathy
351	APP	HP:0002381	Aphasia
351	APP	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
351	APP	HP:0002354	Memory impairment
351	APP	HP:0002315	Headache
351	APP	HP:0100659	Abnormal cerebral vascular morphology
351	APP	HP:0100613	Death in early adulthood
351	APP	HP:0004968	Recurrent cerebral hemorrhage
351	APP	HP:0004938	Tortuous cerebral arteries
351	APP	HP:0000657	Oculomotor apraxia
351	APP	HP:0000738	Hallucinations
351	APP	HP:0000734	Disinhibition
351	APP	HP:0000713	Agitation
351	APP	HP:0000726	Dementia
351	APP	HP:0000708	Atypical behavior
351	APP	HP:0011446	Abnormality of higher mental function
351	APP	HP:0012759	Neurodevelopmental abnormality
351	APP	HP:0011695	Cerebellar hemorrhage
351	APP	HP:0030219	Semantic dementia
351	APP	HP:0012433	Abnormal social behavior
351	APP	HP:0000504	Abnormality of vision
353	APRT	HP:0003774	Stage 5 chronic kidney disease
353	APRT	HP:0000083	Renal insufficiency
353	APRT	HP:0000093	Proteinuria
353	APRT	HP:0000019	Urinary hesitancy
353	APRT	HP:0000016	Urinary retention
353	APRT	HP:0000010	Recurrent urinary tract infections
353	APRT	HP:0000007	Autosomal recessive inheritance
353	APRT	HP:0002027	Abdominal pain
353	APRT	HP:0100520	Oliguria
353	APRT	HP:0100518	Dysuria
353	APRT	HP:0011848	Abdominal colic
353	APRT	HP:0003621	Juvenile onset
353	APRT	HP:0012622	Chronic kidney disease
353	APRT	HP:0001942	Metabolic acidosis
353	APRT	HP:0001919	Acute kidney injury
353	APRT	HP:0011463	Childhood onset
353	APRT	HP:0000791	Uric acid nephrolithiasis
353	APRT	HP:0000790	Hematuria
353	APRT	HP:0000787	Nephrolithiasis
353	APRT	HP:0034279	2,8-dihydroxyadenine crystalluria
353	APRT	HP:0000822	Hypertension
353	APRT	HP:0003259	Elevated circulating creatinine concentration
353	APRT	HP:0034368	Urolithiasis
353	APRT	HP:0005110	Atrial fibrillation
353	APRT	HP:0012379	Abnormal circulating enzyme concentration or activity
353	APRT	HP:0030157	Flank pain
353	APRT	HP:0012587	Macroscopic hematuria
355	FAS	HP:0007256	Abnormal pyramidal sign
355	FAS	HP:0010885	Avascular necrosis
355	FAS	HP:0100820	Glomerulopathy
355	FAS	HP:0100827	Lymphocytosis
355	FAS	HP:0001269	Hemiparesis
355	FAS	HP:0001287	Meningitis
355	FAS	HP:0001289	Confusion
355	FAS	HP:0001288	Gait disturbance
355	FAS	HP:0001250	Seizure
355	FAS	HP:0002583	Colitis
355	FAS	HP:0001251	Ataxia
355	FAS	HP:0002516	Increased intracranial pressure
355	FAS	HP:0031020	Bone marrow hypercellularity
355	FAS	HP:0000083	Renal insufficiency
355	FAS	HP:0000099	Glomerulonephritis
355	FAS	HP:0001369	Arthritis
355	FAS	HP:0001347	Hyperreflexia
355	FAS	HP:0002671	Basal cell carcinoma
355	FAS	HP:0000006	Autosomal dominant inheritance
355	FAS	HP:0002637	Cerebral ischemia
355	FAS	HP:0002633	Vasculitis
355	FAS	HP:0012190	T-cell lymphoma
355	FAS	HP:0012191	B-cell lymphoma
355	FAS	HP:0012189	Hodgkin lymphoma
355	FAS	HP:0000155	Oral ulcer
355	FAS	HP:0001482	Subcutaneous nodule
355	FAS	HP:0012115	Hepatitis
355	FAS	HP:0002731	Decreased lymphocyte apoptosis
355	FAS	HP:0001402	Hepatocellular carcinoma
355	FAS	HP:0002716	Lymphadenopathy
355	FAS	HP:0002730	Chronic noninfectious lymphadenopathy
355	FAS	HP:0002729	Follicular hyperplasia
355	FAS	HP:0002725	Systemic lupus erythematosus
355	FAS	HP:0002024	Malabsorption
355	FAS	HP:0002017	Nausea and vomiting
355	FAS	HP:0002027	Abdominal pain
355	FAS	HP:0003326	Myalgia
355	FAS	HP:0100543	Cognitive impairment
355	FAS	HP:0002076	Migraine
355	FAS	HP:0002039	Anorexia
355	FAS	HP:0100584	Endocarditis
355	FAS	HP:0003453	Antineutrophil antibody positivity
355	FAS	HP:0003454	Platelet antibody positive
355	FAS	HP:0002102	Pleuritis
355	FAS	HP:0002113	Pulmonary infiltrates
355	FAS	HP:0002105	Hemoptysis
355	FAS	HP:0003496	Increased circulating IgM level
355	FAS	HP:0003493	Antinuclear antibody positivity
355	FAS	HP:0008209	Premature ovarian insufficiency
355	FAS	HP:0003401	Paresthesia
355	FAS	HP:0002240	Hepatomegaly
355	FAS	HP:0002239	Gastrointestinal hemorrhage
355	FAS	HP:0002216	Premature graying of hair
355	FAS	HP:0002202	Pleural effusion
355	FAS	HP:0002209	Sparse scalp hair
355	FAS	HP:0002206	Pulmonary fibrosis
355	FAS	HP:0002204	Pulmonary embolism
355	FAS	HP:0010702	Increased circulating antibody level
355	FAS	HP:0100796	Orchitis
355	FAS	HP:0002290	Poliosis
355	FAS	HP:0100758	Gangrene
355	FAS	HP:0010619	Fibroadenoma of the breast
355	FAS	HP:0004844	Coombs-positive hemolytic anemia
355	FAS	HP:0002383	Infectious encephalitis
355	FAS	HP:0001053	Hypopigmented skin patches
355	FAS	HP:0001061	Acne
355	FAS	HP:0001045	Vitiligo
355	FAS	HP:0002376	Developmental regression
355	FAS	HP:0001025	Urticaria
355	FAS	HP:0002354	Memory impairment
355	FAS	HP:0002321	Vertigo
355	FAS	HP:0002315	Headache
355	FAS	HP:0100648	Neoplasm of the tongue
355	FAS	HP:0100646	Thyroiditis
355	FAS	HP:0100653	Optic neuritis
355	FAS	HP:0100654	Retrobulbar optic neuritis
355	FAS	HP:0200034	Papule
355	FAS	HP:0001097	Keratoconjunctivitis sicca
355	FAS	HP:0100614	Myositis
355	FAS	HP:0004936	Venous thrombosis
355	FAS	HP:0003613	Antiphospholipid antibody positivity
355	FAS	HP:0005528	Bone marrow hypocellularity
355	FAS	HP:0006824	Cranial nerve paralysis
355	FAS	HP:0001971	Hypersplenism
355	FAS	HP:0001973	Autoimmune thrombocytopenia
355	FAS	HP:0000618	Blindness
355	FAS	HP:0000613	Photophobia
355	FAS	HP:0001945	Fever
355	FAS	HP:0001923	Reticulocytosis
355	FAS	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
355	FAS	HP:0012649	Increased inflammatory response
355	FAS	HP:0004322	Short stature
355	FAS	HP:0004315	Decreased circulating IgG level
355	FAS	HP:0000737	Irritability
355	FAS	HP:0000708	Atypical behavior
355	FAS	HP:0004420	Arterial thrombosis
355	FAS	HP:0030782	Abnormal circulating interleukin concentration
355	FAS	HP:0040126	Abnormal vitamin B12 level
355	FAS	HP:0000854	Thyroid adenoma
355	FAS	HP:0100326	Immunologic hypersensitivity
355	FAS	HP:0003237	Increased circulating IgG level
355	FAS	HP:0003212	Increased circulating IgE level
355	FAS	HP:0003262	Smooth muscle antibody positivity
355	FAS	HP:0003261	Increased circulating IgA level
355	FAS	HP:0000978	Bruising susceptibility
355	FAS	HP:0008066	Abnormal blistering of the skin
355	FAS	HP:0008069	Neoplasm of the skin
355	FAS	HP:0031392	Abnormal proportion of CD4-positive T cells
355	FAS	HP:0031393	Abnormal proportion of CD8-positive T cells
355	FAS	HP:0002829	Arthralgia
355	FAS	HP:0030080	Burkitt lymphoma
355	FAS	HP:0002890	Thyroid carcinoma
355	FAS	HP:0002853	Increased proportion of HLA DR+ T cells
355	FAS	HP:0002850	Decreased circulating total IgM
355	FAS	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
355	FAS	HP:0002848	Decreased specific anti-polysaccharide antibody level
355	FAS	HP:0012378	Fatigue
355	FAS	HP:0005263	Gastritis
355	FAS	HP:0002923	Rheumatoid factor positive
355	FAS	HP:0001658	Myocardial infarction
355	FAS	HP:0001659	Aortic regurgitation
355	FAS	HP:0001653	Mitral regurgitation
355	FAS	HP:0002960	Autoimmunity
355	FAS	HP:0002972	Reduced delayed hypersensitivity
355	FAS	HP:0001637	Abnormal myocardium morphology
355	FAS	HP:0012490	Panniculitis
355	FAS	HP:0000499	Abnormal eyelash morphology
355	FAS	HP:0000407	Sensorineural hearing impairment
355	FAS	HP:0001733	Pancreatitis
355	FAS	HP:0001701	Pericarditis
355	FAS	HP:0000488	Retinopathy
355	FAS	HP:0001789	Hydrops fetalis
355	FAS	HP:0011107	Recurrent aphthous stomatitis
355	FAS	HP:0001744	Splenomegaly
355	FAS	HP:0005407	Decreased proportion of CD4-positive helper T cells
355	FAS	HP:0005404	Increased B cell count
355	FAS	HP:0000518	Cataract
355	FAS	HP:0001824	Weight loss
355	FAS	HP:0000505	Visual impairment
355	FAS	HP:0000501	Glaucoma
355	FAS	HP:0001892	Abnormal bleeding
355	FAS	HP:0001891	Iron deficiency anemia
355	FAS	HP:0001890	Autoimmune hemolytic anemia
355	FAS	HP:0001888	Lymphopenia
355	FAS	HP:0000554	Uveitis
355	FAS	HP:0012539	Non-Hodgkin lymphoma
355	FAS	HP:0000541	Retinal detachment
355	FAS	HP:0000534	Abnormal eyebrow morphology
355	FAS	HP:0001880	Eosinophilia
356	FASLG	HP:0100827	Lymphocytosis
356	FASLG	HP:0001250	Seizure
356	FASLG	HP:0002583	Colitis
356	FASLG	HP:0031020	Bone marrow hypercellularity
356	FASLG	HP:0000083	Renal insufficiency
356	FASLG	HP:0000099	Glomerulonephritis
356	FASLG	HP:0001369	Arthritis
356	FASLG	HP:0002671	Basal cell carcinoma
356	FASLG	HP:0000006	Autosomal dominant inheritance
356	FASLG	HP:0002633	Vasculitis
356	FASLG	HP:0012190	T-cell lymphoma
356	FASLG	HP:0012191	B-cell lymphoma
356	FASLG	HP:0012189	Hodgkin lymphoma
356	FASLG	HP:0012115	Hepatitis
356	FASLG	HP:0001428	Somatic mutation
356	FASLG	HP:0002731	Decreased lymphocyte apoptosis
356	FASLG	HP:0001402	Hepatocellular carcinoma
356	FASLG	HP:0002716	Lymphadenopathy
356	FASLG	HP:0002730	Chronic noninfectious lymphadenopathy
356	FASLG	HP:0002729	Follicular hyperplasia
356	FASLG	HP:0002725	Systemic lupus erythematosus
356	FASLG	HP:0003453	Antineutrophil antibody positivity
356	FASLG	HP:0003454	Platelet antibody positive
356	FASLG	HP:0002113	Pulmonary infiltrates
356	FASLG	HP:0003496	Increased circulating IgM level
356	FASLG	HP:0003493	Antinuclear antibody positivity
356	FASLG	HP:0008209	Premature ovarian insufficiency
356	FASLG	HP:0002240	Hepatomegaly
356	FASLG	HP:0002206	Pulmonary fibrosis
356	FASLG	HP:0010702	Increased circulating antibody level
356	FASLG	HP:0010619	Fibroadenoma of the breast
356	FASLG	HP:0004844	Coombs-positive hemolytic anemia
356	FASLG	HP:0001025	Urticaria
356	FASLG	HP:0002315	Headache
356	FASLG	HP:0100648	Neoplasm of the tongue
356	FASLG	HP:0100646	Thyroiditis
356	FASLG	HP:0003613	Antiphospholipid antibody positivity
356	FASLG	HP:0005528	Bone marrow hypocellularity
356	FASLG	HP:0001971	Hypersplenism
356	FASLG	HP:0001973	Autoimmune thrombocytopenia
356	FASLG	HP:0001923	Reticulocytosis
356	FASLG	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
356	FASLG	HP:0004315	Decreased circulating IgG level
356	FASLG	HP:0030782	Abnormal circulating interleukin concentration
356	FASLG	HP:0040126	Abnormal vitamin B12 level
356	FASLG	HP:0000854	Thyroid adenoma
356	FASLG	HP:0003237	Increased circulating IgG level
356	FASLG	HP:0003212	Increased circulating IgE level
356	FASLG	HP:0003262	Smooth muscle antibody positivity
356	FASLG	HP:0003261	Increased circulating IgA level
356	FASLG	HP:0000978	Bruising susceptibility
356	FASLG	HP:0008069	Neoplasm of the skin
356	FASLG	HP:0031392	Abnormal proportion of CD4-positive T cells
356	FASLG	HP:0031393	Abnormal proportion of CD8-positive T cells
356	FASLG	HP:0030078	Lung adenocarcinoma
356	FASLG	HP:0030080	Burkitt lymphoma
356	FASLG	HP:0002890	Thyroid carcinoma
356	FASLG	HP:0002853	Increased proportion of HLA DR+ T cells
356	FASLG	HP:0002850	Decreased circulating total IgM
356	FASLG	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
356	FASLG	HP:0002848	Decreased specific anti-polysaccharide antibody level
356	FASLG	HP:0005263	Gastritis
356	FASLG	HP:0006519	Alveolar cell carcinoma
356	FASLG	HP:0002923	Rheumatoid factor positive
356	FASLG	HP:0002960	Autoimmunity
356	FASLG	HP:0002972	Reduced delayed hypersensitivity
356	FASLG	HP:0012490	Panniculitis
356	FASLG	HP:0001789	Hydrops fetalis
356	FASLG	HP:0011107	Recurrent aphthous stomatitis
356	FASLG	HP:0001744	Splenomegaly
356	FASLG	HP:0005407	Decreased proportion of CD4-positive helper T cells
356	FASLG	HP:0005404	Increased B cell count
356	FASLG	HP:0030358	Non-small cell lung carcinoma
356	FASLG	HP:0001892	Abnormal bleeding
356	FASLG	HP:0001891	Iron deficiency anemia
356	FASLG	HP:0001890	Autoimmune hemolytic anemia
356	FASLG	HP:0001888	Lymphopenia
356	FASLG	HP:0000554	Uveitis
356	FASLG	HP:0012539	Non-Hodgkin lymphoma
356	FASLG	HP:0001880	Eosinophilia
359	AQP2	HP:0001250	Seizure
359	AQP2	HP:0001249	Intellectual disability
359	AQP2	HP:0001263	Global developmental delay
359	AQP2	HP:0000083	Renal insufficiency
359	AQP2	HP:0000072	Hydroureter
359	AQP2	HP:0000021	Megacystis
359	AQP2	HP:0008872	Feeding difficulties in infancy
359	AQP2	HP:0000007	Autosomal recessive inheritance
359	AQP2	HP:0000009	Functional abnormality of the bladder
359	AQP2	HP:0000006	Autosomal dominant inheritance
359	AQP2	HP:0000103	Polyuria
359	AQP2	HP:0002019	Constipation
359	AQP2	HP:0002017	Nausea and vomiting
359	AQP2	HP:0002013	Vomiting
359	AQP2	HP:0002039	Anorexia
359	AQP2	HP:0010677	Enuresis nocturna
359	AQP2	HP:0011968	Feeding difficulties
359	AQP2	HP:0009806	Nephrogenic diabetes insipidus
359	AQP2	HP:0003623	Neonatal onset
359	AQP2	HP:0004906	Hypernatremic dehydration
359	AQP2	HP:0001945	Fever
359	AQP2	HP:0001959	Polydipsia
359	AQP2	HP:0001955	Unexplained fevers
359	AQP2	HP:0001986	Hypertonic dehydration
359	AQP2	HP:0004322	Short stature
359	AQP2	HP:0000737	Irritability
359	AQP2	HP:0003158	Hyposthenuria
359	AQP2	HP:0003228	Hypernatremia
359	AQP2	HP:0001561	Polyhydramnios
359	AQP2	HP:0001508	Failure to thrive
359	AQP2	HP:0001510	Growth delay
359	AQP2	HP:0011106	Hypovolemia
362	AQP5	HP:0007447	Diffuse palmoplantar hyperkeratosis
362	AQP5	HP:0000006	Autosomal dominant inheritance
362	AQP5	HP:0200034	Papule
362	AQP5	HP:0200042	Skin ulcer
362	AQP5	HP:0010783	Erythema
362	AQP5	HP:0011463	Childhood onset
362	AQP5	HP:0000989	Pruritus
362	AQP5	HP:0008066	Abnormal blistering of the skin
367	AR	HP:0025132	Abnormal circulating estrogen level
367	AR	HP:0025134	Increased serum estradiol
367	AR	HP:0008655	Aplasia/Hypoplasia of the fallopian tube
367	AR	HP:0009888	Abnormality of secondary sexual hair
367	AR	HP:0001288	Gait disturbance
367	AR	HP:0001283	Bulbar palsy
367	AR	HP:0001252	Hypotonia
367	AR	HP:0001265	Hyporeflexia
367	AR	HP:0001260	Dysarthria
367	AR	HP:0002555	Absent pubic hair
367	AR	HP:0008730	Female external genitalia in individual with 46,XY karyotype
367	AR	HP:0008722	Urethral diverticulum
367	AR	HP:0008689	Bilateral cryptorchidism
367	AR	HP:0008665	Clitoral hypertrophy
367	AR	HP:0002550	Absent facial hair
367	AR	HP:0000098	Tall stature
367	AR	HP:0000066	Labial hypoplasia
367	AR	HP:0000062	Ambiguous genitalia
367	AR	HP:0000037	Male pseudohermaphroditism
367	AR	HP:0000054	Micropenis
367	AR	HP:0000051	Perineal hypospadias
367	AR	HP:0000048	Bifid scrotum
367	AR	HP:0000047	Hypospadias
367	AR	HP:0000023	Inguinal hernia
367	AR	HP:0000029	Testicular atrophy
367	AR	HP:0000028	Cryptorchidism
367	AR	HP:0000027	Azoospermia
367	AR	HP:0002664	Neoplasm
367	AR	HP:0000008	Abnormal morphology of female internal genitalia
367	AR	HP:0001337	Tremor
367	AR	HP:0000006	Autosomal dominant inheritance
367	AR	HP:0031102	Increased circulating antimullerian hormone concentration
367	AR	HP:0025486	Fused labia majora
367	AR	HP:0000175	Cleft palate
367	AR	HP:0000144	Decreased fertility
367	AR	HP:0012125	Prostate cancer
367	AR	HP:0000135	Hypogonadism
367	AR	HP:0000153	Abnormality of the mouth
367	AR	HP:0000151	Aplasia of the uterus
367	AR	HP:0008981	Calf muscle hypertrophy
367	AR	HP:0001428	Somatic mutation
367	AR	HP:0001419	X-linked recessive inheritance
367	AR	HP:0002023	Anal atresia
367	AR	HP:0002032	Esophageal atresia
367	AR	HP:0040307	Male sexual dysfunction
367	AR	HP:0040314	Blind vagina
367	AR	HP:0002015	Dysphagia
367	AR	HP:0005978	Type II diabetes mellitus
367	AR	HP:0003394	Muscle spasm
367	AR	HP:0008189	Insulin insensitivity
367	AR	HP:0010463	Aplasia of the ovary
367	AR	HP:0008232	Elevated circulating follicle stimulating hormone level
367	AR	HP:0008226	Androgen insufficiency
367	AR	HP:0003581	Adult onset
367	AR	HP:0002221	Absent axillary hair
367	AR	HP:0002215	Sparse axillary hair
367	AR	HP:0002225	Sparse pubic hair
367	AR	HP:0100779	Urogenital sinus anomaly
367	AR	HP:0100728	Germ cell neoplasia
367	AR	HP:0011969	Elevated circulating luteinizing hormone level
367	AR	HP:0002380	Fasciculations
367	AR	HP:0001061	Acne
367	AR	HP:0003690	Limb muscle weakness
367	AR	HP:0003677	Slowly progressive
367	AR	HP:0009830	Peripheral neuropathy
367	AR	HP:0100627	Displacement of the urethral meatus
367	AR	HP:0100639	Erectile dysfunction
367	AR	HP:0010788	Testicular neoplasm
367	AR	HP:0000771	Gynecomastia
367	AR	HP:0100022	Abnormality of movement
367	AR	HP:0000763	Sensory neuropathy
367	AR	HP:0000739	Anxiety
367	AR	HP:0000716	Depression
367	AR	HP:0000776	Congenital diaphragmatic hernia
367	AR	HP:0000789	Infertility
367	AR	HP:0000786	Primary amenorrhea
367	AR	HP:0003119	Abnormal circulating lipid concentration
367	AR	HP:0000818	Abnormality of the endocrine system
367	AR	HP:0000823	Delayed puberty
367	AR	HP:0012888	Abnormal uterine cervix morphology
367	AR	HP:0012873	Absent vas deferens
367	AR	HP:0003236	Elevated circulating creatine kinase concentration
367	AR	HP:0003202	Skeletal muscle atrophy
367	AR	HP:0003251	Male infertility
367	AR	HP:0030088	Increased serum testosterone level
367	AR	HP:0001547	Abnormal rib cage morphology
367	AR	HP:0001539	Omphalocele
367	AR	HP:0001507	Growth abnormality
367	AR	HP:0001518	Small for gestational age
367	AR	HP:0001618	Dysphonia
367	AR	HP:0001620	High pitched voice
367	AR	HP:0012435	Ventral shortening of foreskin
367	AR	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration
368	ABCC6	HP:0025116	Fetal distress
368	ABCC6	HP:0025115	Civatte bodies
368	ABCC6	HP:0025169	Left ventricular systolic dysfunction
368	ABCC6	HP:0001102	Angioid streaks of the fundus
368	ABCC6	HP:0001297	Stroke
368	ABCC6	HP:0100817	Renovascular hypertension
368	ABCC6	HP:0001250	Seizure
368	ABCC6	HP:0007392	Excessive wrinkled skin
368	ABCC6	HP:0002514	Cerebral calcification
368	ABCC6	HP:0003836	Stippled calcification of the shoulder
368	ABCC6	HP:0001384	Abnormal hip joint morphology
368	ABCC6	HP:0001342	Cerebral hemorrhage
368	ABCC6	HP:0000007	Autosomal recessive inheritance
368	ABCC6	HP:0000006	Autosomal dominant inheritance
368	ABCC6	HP:0002634	Arteriosclerosis
368	ABCC6	HP:0002650	Scoliosis
368	ABCC6	HP:0002647	Aortic dissection
368	ABCC6	HP:0002617	Vascular dilatation
368	ABCC6	HP:0003941	Stippled calcification of the elbow
368	ABCC6	HP:0002621	Atherosclerosis
368	ABCC6	HP:0025477	Periarticular calcification
368	ABCC6	HP:0001482	Subcutaneous nodule
368	ABCC6	HP:0007663	Reduced visual acuity
368	ABCC6	HP:0002705	High, narrow palate
368	ABCC6	HP:0000121	Nephrocalcinosis
368	ABCC6	HP:0032553	Weak pulse
368	ABCC6	HP:0002749	Osteomalacia
368	ABCC6	HP:0002013	Vomiting
368	ABCC6	HP:0100545	Arterial stenosis
368	ABCC6	HP:0002098	Respiratory distress
368	ABCC6	HP:0002092	Pulmonary arterial hypertension
368	ABCC6	HP:0100585	Telangiectasia of the skin
368	ABCC6	HP:0011703	Sinus tachycardia
368	ABCC6	HP:0002172	Postural instability
368	ABCC6	HP:0010512	Adrenal calcification
368	ABCC6	HP:0003593	Infantile onset
368	ABCC6	HP:0002239	Gastrointestinal hemorrhage
368	ABCC6	HP:0100758	Gangrene
368	ABCC6	HP:0010639	Elevated alkaline phosphatase of bone origin
368	ABCC6	HP:0011968	Feeding difficulties
368	ABCC6	HP:0001065	Striae distensae
368	ABCC6	HP:0001061	Acne
368	ABCC6	HP:0001012	Multiple lipomas
368	ABCC6	HP:0002326	Transient ischemic attack
368	ABCC6	HP:0100659	Abnormal cerebral vascular morphology
368	ABCC6	HP:0100679	Lack of skin elasticity
368	ABCC6	HP:0200067	Recurrent spontaneous abortion
368	ABCC6	HP:0010766	Ectopic calcification
368	ABCC6	HP:0004963	Calcification of the aorta
368	ABCC6	HP:0004966	Medial calcification of large arteries
368	ABCC6	HP:0004943	Accelerated atherosclerosis
368	ABCC6	HP:0004912	Hypophosphatemic rickets
368	ABCC6	HP:0000630	Abnormal retinal artery morphology
368	ABCC6	HP:0001945	Fever
368	ABCC6	HP:0000608	Macular degeneration
368	ABCC6	HP:0011344	Severe global developmental delay
368	ABCC6	HP:0012664	Reduced left ventricular ejection fraction
368	ABCC6	HP:0004306	Abnormal endocardium morphology
368	ABCC6	HP:0030680	Abnormality of cardiovascular system morphology
368	ABCC6	HP:0005692	Joint hyperflexibility
368	ABCC6	HP:0004374	Hemiplegia/hemiparesis
368	ABCC6	HP:0000766	Abnormal sternum morphology
368	ABCC6	HP:0000765	Abnormal thorax morphology
368	ABCC6	HP:0000737	Irritability
368	ABCC6	HP:0009164	Abnormal calcification of the carpal bones
368	ABCC6	HP:0003109	Hyperphosphaturia
368	ABCC6	HP:0004417	Intermittent claudication
368	ABCC6	HP:0030718	Right atrial enlargement
368	ABCC6	HP:0011506	Choroidal neovascularization
368	ABCC6	HP:0000822	Hypertension
368	ABCC6	HP:0000821	Hypothyroidism
368	ABCC6	HP:0003207	Arterial calcification
368	ABCC6	HP:0045051	Decreased DLCO
368	ABCC6	HP:0000978	Bruising susceptibility
368	ABCC6	HP:0000974	Hyperextensible skin
368	ABCC6	HP:0000973	Cutis laxa
368	ABCC6	HP:0000989	Pruritus
368	ABCC6	HP:0000988	Skin rash
368	ABCC6	HP:0000951	Abnormality of the skin
368	ABCC6	HP:0000969	Edema
368	ABCC6	HP:0000961	Cyanosis
368	ABCC6	HP:0033026	White oral mucosal macule
368	ABCC6	HP:0033027	Retinal peau d'orange
368	ABCC6	HP:0040197	Encephalomalacia
368	ABCC6	HP:0005103	Calcification of the auricular cartilage
368	ABCC6	HP:0002815	Abnormality of the knee
368	ABCC6	HP:0002829	Arthralgia
368	ABCC6	HP:0002808	Kyphosis
368	ABCC6	HP:0025533	Peau d'orange
368	ABCC6	HP:0000218	High palate
368	ABCC6	HP:0001561	Polyhydramnios
368	ABCC6	HP:0025507	Yellow papule
368	ABCC6	HP:0001531	Failure to thrive in infancy
368	ABCC6	HP:0001541	Ascites
368	ABCC6	HP:0000381	Stapes ankylosis
368	ABCC6	HP:0006559	Hepatic calcification
368	ABCC6	HP:0005213	Pancreatic calcification
368	ABCC6	HP:0002949	Fused cervical vertebrae
368	ABCC6	HP:0005180	Tricuspid regurgitation
368	ABCC6	HP:0000365	Hearing impairment
368	ABCC6	HP:0001698	Pericardial effusion
368	ABCC6	HP:0001681	Angina pectoris
368	ABCC6	HP:0001677	Coronary artery atherosclerosis
368	ABCC6	HP:0001645	Sudden cardiac death
368	ABCC6	HP:0030149	Cardiogenic shock
368	ABCC6	HP:0001658	Myocardial infarction
368	ABCC6	HP:0001653	Mitral regurgitation
368	ABCC6	HP:0001640	Cardiomegaly
368	ABCC6	HP:0001635	Congestive heart failure
368	ABCC6	HP:0001634	Mitral valve prolapse
368	ABCC6	HP:0006690	Myocardial calcification
368	ABCC6	HP:0001723	Restrictive cardiomyopathy
368	ABCC6	HP:0000407	Sensorineural hearing impairment
368	ABCC6	HP:0000405	Conductive hearing impairment
368	ABCC6	HP:0001717	Coronary artery calcification
368	ABCC6	HP:0001718	Mitral stenosis
368	ABCC6	HP:0001714	Ventricular hypertrophy
368	ABCC6	HP:0005297	Premature occlusive vascular stenosis
368	ABCC6	HP:0012457	Medial calcification of medium-sized arteries
368	ABCC6	HP:0000488	Retinopathy
368	ABCC6	HP:0001789	Hydrops fetalis
368	ABCC6	HP:0000474	Thickened nuchal skin fold
368	ABCC6	HP:0012426	Optic disc drusen
368	ABCC6	HP:0012408	Medullary nephrocalcinosis
368	ABCC6	HP:0012409	Cortical nephrocalcinosis
368	ABCC6	HP:0000410	Mixed hearing impairment
368	ABCC6	HP:0005462	Calcification of falx cerebri
368	ABCC6	HP:0012508	Metamorphopsia
368	ABCC6	HP:0000505	Visual impairment
368	ABCC6	HP:0000592	Blue sclerae
368	ABCC6	HP:0000573	Retinal hemorrhage
368	ABCC6	HP:0001872	Abnormality of thrombocytes
368	ABCC6	HP:0000545	Myopia
372	ARCN1	HP:0001176	Large hands
372	ARCN1	HP:0003712	Skeletal muscle hypertrophy
372	ARCN1	HP:0001272	Cerebellar atrophy
372	ARCN1	HP:0001270	Motor delay
372	ARCN1	HP:0001250	Seizure
372	ARCN1	HP:0001251	Ataxia
372	ARCN1	HP:0001249	Intellectual disability
372	ARCN1	HP:0001263	Global developmental delay
372	ARCN1	HP:0000046	Small scrotum
372	ARCN1	HP:0000054	Micropenis
372	ARCN1	HP:0001388	Joint laxity
372	ARCN1	HP:0000028	Cryptorchidism
372	ARCN1	HP:0002673	Coxa valga
372	ARCN1	HP:0000006	Autosomal dominant inheritance
372	ARCN1	HP:0008905	Rhizomelia
372	ARCN1	HP:0000175	Cleft palate
372	ARCN1	HP:0002020	Gastroesophageal reflux
372	ARCN1	HP:0004691	2-3 toe syndactyly
372	ARCN1	HP:0002066	Gait ataxia
372	ARCN1	HP:0003577	Congenital onset
372	ARCN1	HP:0011968	Feeding difficulties
372	ARCN1	HP:0000601	Hypotelorism
372	ARCN1	HP:0004325	Decreased body weight
372	ARCN1	HP:0004322	Short stature
372	ARCN1	HP:0005616	Accelerated skeletal maturation
372	ARCN1	HP:0000808	Penoscrotal hypospadias
372	ARCN1	HP:0003016	Metaphyseal widening
372	ARCN1	HP:0000717	Autism
372	ARCN1	HP:0030799	Scaphocephaly
372	ARCN1	HP:0000278	Retrognathia
372	ARCN1	HP:0006429	Broad femoral neck
372	ARCN1	HP:0000252	Microcephaly
372	ARCN1	HP:0000218	High palate
372	ARCN1	HP:0002870	Obstructive sleep apnea
372	ARCN1	HP:0001508	Failure to thrive
372	ARCN1	HP:0001511	Intrauterine growth retardation
372	ARCN1	HP:0000347	Micrognathia
372	ARCN1	HP:0002979	Bowing of the legs
372	ARCN1	HP:0001629	Ventricular septal defect
372	ARCN1	HP:0006610	Wide intermamillary distance
372	ARCN1	HP:0000483	Astigmatism
372	ARCN1	HP:0000486	Strabismus
372	ARCN1	HP:0000494	Downslanted palpebral fissures
372	ARCN1	HP:0000518	Cataract
372	ARCN1	HP:0011220	Prominent forehead
372	ARCN1	HP:0000545	Myopia
375	ARF1	HP:0001250	Seizure
375	ARF1	HP:0001263	Global developmental delay
375	ARF1	HP:0001257	Spasticity
375	ARF1	HP:0032388	Periventricular nodular heterotopia
375	ARF1	HP:0007359	Focal-onset seizure
375	ARF1	HP:0003834	Shoulder dislocation
375	ARF1	HP:0001382	Joint hypermobility
375	ARF1	HP:0000006	Autosomal dominant inheritance
375	ARF1	HP:0002650	Scoliosis
375	ARF1	HP:0002021	Pyloric stenosis
375	ARF1	HP:0002020	Gastroesophageal reflux
375	ARF1	HP:0002188	Delayed CNS myelination
375	ARF1	HP:0100790	Hernia
375	ARF1	HP:0007165	Periventricular heterotopia
375	ARF1	HP:0004942	Aortic aneurysm
375	ARF1	HP:0006855	Cerebellar vermis atrophy
375	ARF1	HP:0012639	Abnormal nervous system morphology
375	ARF1	HP:0000750	Delayed speech and language development
375	ARF1	HP:0034295	Reduced cerebral white matter volume
375	ARF1	HP:0000963	Thin skin
375	ARF1	HP:0002999	Patellar dislocation
375	ARF1	HP:0001643	Patent ductus arteriosus
375	ARF1	HP:0001659	Aortic regurgitation
375	ARF1	HP:0001654	Abnormal heart valve morphology
375	ARF1	HP:0001892	Abnormal bleeding
383	ARG1	HP:0002478	Progressive spastic quadriplegia
383	ARG1	HP:0500153	Hyperargininemia
383	ARG1	HP:0010864	Intellectual disability, severe
383	ARG1	HP:0001272	Cerebellar atrophy
383	ARG1	HP:0001250	Seizure
383	ARG1	HP:0001249	Intellectual disability
383	ARG1	HP:0001263	Global developmental delay
383	ARG1	HP:0002572	Episodic vomiting
383	ARG1	HP:0001396	Cholestasis
383	ARG1	HP:0008897	Postnatal growth retardation
383	ARG1	HP:0000007	Autosomal recessive inheritance
383	ARG1	HP:0001413	Micronodular cirrhosis
383	ARG1	HP:0002013	Vomiting
383	ARG1	HP:0002064	Spastic gait
383	ARG1	HP:0002039	Anorexia
383	ARG1	HP:0002167	Abnormality of speech or vocalization
383	ARG1	HP:0002240	Hepatomegaly
383	ARG1	HP:0008339	Diaminoaciduria
383	ARG1	HP:0002359	Frequent falls
383	ARG1	HP:0002353	EEG abnormality
383	ARG1	HP:0002313	Spastic paraparesis
383	ARG1	HP:0003623	Neonatal onset
383	ARG1	HP:0001987	Hyperammonemia
383	ARG1	HP:0004374	Hemiplegia/hemiparesis
383	ARG1	HP:0000752	Hyperactivity
383	ARG1	HP:0000737	Irritability
383	ARG1	HP:0000708	Atypical behavior
383	ARG1	HP:0011463	Childhood onset
383	ARG1	HP:0003218	Oroticaciduria
383	ARG1	HP:0006580	Portal fibrosis
387	RHOA	HP:0001156	Brachydactyly
387	RHOA	HP:0009928	Thick nasal alae
387	RHOA	HP:0009918	Ectopia pupillae
387	RHOA	HP:0001249	Intellectual disability
387	RHOA	HP:0001263	Global developmental delay
387	RHOA	HP:0007663	Reduced visual acuity
387	RHOA	HP:0006335	Persistence of primary teeth
387	RHOA	HP:0006297	Enamel hypoplasia
387	RHOA	HP:0001442	Somatic mosaicism
387	RHOA	HP:0003577	Congenital onset
387	RHOA	HP:0009779	3-4 toe syndactyly
387	RHOA	HP:0000639	Nystagmus
387	RHOA	HP:0000648	Optic atrophy
387	RHOA	HP:0010055	Broad hallux
387	RHOA	HP:0000698	Conical tooth
387	RHOA	HP:0000677	Oligodontia
387	RHOA	HP:0000691	Microdontia
387	RHOA	HP:0011332	Hemifacial hypoplasia
387	RHOA	HP:0000689	Dental malocclusion
387	RHOA	HP:0004552	Scarring alopecia of scalp
387	RHOA	HP:0000272	Malar flattening
387	RHOA	HP:0030084	Clinodactyly
387	RHOA	HP:0000324	Facial asymmetry
387	RHOA	HP:0007946	Unilateral narrow palpebral fissure
387	RHOA	HP:0000483	Astigmatism
387	RHOA	HP:0000486	Strabismus
387	RHOA	HP:0000431	Wide nasal bridge
387	RHOA	HP:0000518	Cataract
387	RHOA	HP:0001852	Sandal gap
387	RHOA	HP:0000501	Glaucoma
387	RHOA	HP:0000568	Microphthalmia
387	RHOA	HP:0000545	Myopia
396	ARHGDIA	HP:0003774	Stage 5 chronic kidney disease
396	ARHGDIA	HP:0002586	Peritonitis
396	ARHGDIA	HP:0001250	Seizure
396	ARHGDIA	HP:0001249	Intellectual disability
396	ARHGDIA	HP:0007430	Generalized edema
396	ARHGDIA	HP:0000097	Focal segmental glomerulosclerosis
396	ARHGDIA	HP:0000093	Proteinuria
396	ARHGDIA	HP:0000007	Autosomal recessive inheritance
396	ARHGDIA	HP:0000100	Nephrotic syndrome
396	ARHGDIA	HP:0002027	Abdominal pain
396	ARHGDIA	HP:0100539	Periorbital edema
396	ARHGDIA	HP:0100704	Cerebral visual impairment
396	ARHGDIA	HP:0011947	Respiratory tract infection
396	ARHGDIA	HP:0003678	Rapidly progressive
396	ARHGDIA	HP:0002315	Headache
396	ARHGDIA	HP:0003623	Neonatal onset
396	ARHGDIA	HP:0012622	Chronic kidney disease
396	ARHGDIA	HP:0001967	Diffuse mesangial sclerosis
396	ARHGDIA	HP:0001945	Fever
396	ARHGDIA	HP:0003073	Hypoalbuminemia
396	ARHGDIA	HP:0000737	Irritability
396	ARHGDIA	HP:0000707	Abnormality of the nervous system
396	ARHGDIA	HP:0000969	Edema
396	ARHGDIA	HP:0031504	Foamy urine
396	ARHGDIA	HP:0000407	Sensorineural hearing impairment
396	ARHGDIA	HP:0012577	Thin glomerular basement membrane
396	ARHGDIA	HP:0012579	Minimal change glomerulonephritis
399	RHOH	HP:0032215	Disseminated cutaneous warts
399	RHOH	HP:0000007	Autosomal recessive inheritance
399	RHOH	HP:0002097	Emphysema
399	RHOH	HP:0001041	Facial erythema
399	RHOH	HP:0011463	Childhood onset
399	RHOH	HP:0010280	Stomatitis
399	RHOH	HP:0030080	Burkitt lymphoma
399	RHOH	HP:0031514	Increased proportion of exhausted T cells
401	PHOX2A	HP:0000007	Autosomal recessive inheritance
401	PHOX2A	HP:0001491	Congenital fibrosis of extraocular muscles
401	PHOX2A	HP:0001488	Bilateral ptosis
401	PHOX2A	HP:0003577	Congenital onset
401	PHOX2A	HP:0000646	Amblyopia
401	PHOX2A	HP:0025584	Hypotropia
401	PHOX2A	HP:0025586	Hypertropia
401	PHOX2A	HP:0007936	Restrictive external ophthalmoplegia
401	PHOX2A	HP:0000505	Visual impairment
401	PHOX2A	HP:0000577	Exotropia
402	ARL2	HP:0000006	Autosomal dominant inheritance
402	ARL2	HP:0007663	Reduced visual acuity
402	ARL2	HP:0003577	Congenital onset
402	ARL2	HP:0030856	Posterior staphyloma
402	ARL2	HP:0000482	Microcornea
402	ARL2	HP:0000518	Cataract
402	ARL2	HP:0000510	Rod-cone dystrophy
403	ARL3	HP:0001161	Hand polydactyly
403	ARL3	HP:0001133	Constriction of peripheral visual field
403	ARL3	HP:0002419	Molar tooth sign on MRI
403	ARL3	HP:0001290	Generalized hypotonia
403	ARL3	HP:0001288	Gait disturbance
403	ARL3	HP:0100832	Vitreous floaters
403	ARL3	HP:0001250	Seizure
403	ARL3	HP:0001252	Hypotonia
403	ARL3	HP:0001251	Ataxia
403	ARL3	HP:0001249	Intellectual disability
403	ARL3	HP:0001263	Global developmental delay
403	ARL3	HP:0008736	Hypoplasia of penis
403	ARL3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
403	ARL3	HP:0002553	Highly arched eyebrow
403	ARL3	HP:0001347	Hyperreflexia
403	ARL3	HP:0000035	Abnormal testis morphology
403	ARL3	HP:0008872	Feeding difficulties in infancy
403	ARL3	HP:0000010	Recurrent urinary tract infections
403	ARL3	HP:0000007	Autosomal recessive inheritance
403	ARL3	HP:0000003	Multicystic kidney dysplasia
403	ARL3	HP:0001337	Tremor
403	ARL3	HP:0000006	Autosomal dominant inheritance
403	ARL3	HP:0001320	Cerebellar vermis hypoplasia
403	ARL3	HP:0002650	Scoliosis
403	ARL3	HP:0000135	Hypogonadism
403	ARL3	HP:0007675	Progressive night blindness
403	ARL3	HP:0007663	Reduced visual acuity
403	ARL3	HP:0002793	Abnormal pattern of respiration
403	ARL3	HP:0000126	Hydronephrosis
403	ARL3	HP:0003312	Abnormal form of the vertebral bodies
403	ARL3	HP:0005978	Type II diabetes mellitus
403	ARL3	HP:0002084	Encephalocele
403	ARL3	HP:0002126	Polymicrogyria
403	ARL3	HP:0002104	Apnea
403	ARL3	HP:0011933	Elongated superior cerebellar peduncle
403	ARL3	HP:0010535	Sleep apnea
403	ARL3	HP:0002269	Abnormality of neuronal migration
403	ARL3	HP:0002251	Aganglionic megacolon
403	ARL3	HP:0003621	Juvenile onset
403	ARL3	HP:0000639	Nystagmus
403	ARL3	HP:0000648	Optic atrophy
403	ARL3	HP:0000618	Blindness
403	ARL3	HP:0000613	Photophobia
403	ARL3	HP:0000612	Iris coloboma
403	ARL3	HP:0000602	Ophthalmoplegia
403	ARL3	HP:0000662	Nyctalopia
403	ARL3	HP:0000657	Oculomotor apraxia
403	ARL3	HP:0000664	Synophrys
403	ARL3	HP:0030672	Asteroid hyalosis
403	ARL3	HP:0030680	Abnormality of cardiovascular system morphology
403	ARL3	HP:0004370	Abnormality of temperature regulation
403	ARL3	HP:0000768	Pectus carinatum
403	ARL3	HP:0004422	Biparietal narrowing
403	ARL3	HP:0030760	Renal fibrosis
403	ARL3	HP:0011505	Cystoid macular edema
403	ARL3	HP:0000864	Abnormality of the hypothalamus-pituitary axis
403	ARL3	HP:0000842	Hyperinsulinemia
403	ARL3	HP:0000987	Atypical scarring of skin
403	ARL3	HP:0000954	Single transverse palmar crease
403	ARL3	HP:0008046	Abnormal retinal vascular morphology
403	ARL3	HP:0007703	Abnormality of retinal pigmentation
403	ARL3	HP:0000276	Long face
403	ARL3	HP:0007787	Posterior subcapsular cataract
403	ARL3	HP:0007737	Bone spicule pigmentation of the retina
403	ARL3	HP:0000238	Hydrocephalus
403	ARL3	HP:0002876	Episodic tachypnea
403	ARL3	HP:0000202	Orofacial cleft
403	ARL3	HP:0001513	Obesity
403	ARL3	HP:0007843	Attenuation of retinal blood vessels
403	ARL3	HP:0001696	Situs inversus totalis
403	ARL3	HP:0000369	Low-set ears
403	ARL3	HP:0000407	Sensorineural hearing impairment
403	ARL3	HP:0000405	Conductive hearing impairment
403	ARL3	HP:0005280	Depressed nasal bridge
403	ARL3	HP:0000486	Strabismus
403	ARL3	HP:0000463	Anteverted nares
403	ARL3	HP:0000431	Wide nasal bridge
403	ARL3	HP:0000426	Prominent nasal bridge
403	ARL3	HP:0000518	Cataract
403	ARL3	HP:0000510	Rod-cone dystrophy
403	ARL3	HP:0000512	Abnormal electroretinogram
403	ARL3	HP:0000529	Progressive visual loss
403	ARL3	HP:0001829	Foot polydactyly
403	ARL3	HP:0000506	Telecanthus
403	ARL3	HP:0000508	Ptosis
403	ARL3	HP:0000505	Visual impairment
403	ARL3	HP:0000501	Glaucoma
403	ARL3	HP:0000563	Keratoconus
407	ARR3	HP:0001417	X-linked inheritance
407	ARR3	HP:0011003	High myopia
410	ARSA	HP:0002483	Bulbar signs
410	ARSA	HP:0002478	Progressive spastic quadriplegia
410	ARSA	HP:0002445	Tetraplegia
410	ARSA	HP:0008619	Bilateral sensorineural hearing impairment
410	ARSA	HP:0007272	Progressive psychomotor deterioration
410	ARSA	HP:0007240	Progressive gait ataxia
410	ARSA	HP:0002415	Leukodystrophy
410	ARSA	HP:0001290	Generalized hypotonia
410	ARSA	HP:0001268	Mental deterioration
410	ARSA	HP:0001288	Gait disturbance
410	ARSA	HP:0001283	Bulbar palsy
410	ARSA	HP:0001250	Seizure
410	ARSA	HP:0001252	Hypotonia
410	ARSA	HP:0001251	Ataxia
410	ARSA	HP:0001249	Intellectual disability
410	ARSA	HP:0001265	Hyporeflexia
410	ARSA	HP:0001260	Dysarthria
410	ARSA	HP:0001257	Spasticity
410	ARSA	HP:0002510	Spastic tetraplegia
410	ARSA	HP:0002500	Abnormal cerebral white matter morphology
410	ARSA	HP:0000020	Urinary incontinence
410	ARSA	HP:0001347	Hyperreflexia
410	ARSA	HP:0008872	Feeding difficulties in infancy
410	ARSA	HP:0001332	Dystonia
410	ARSA	HP:0001324	Muscle weakness
410	ARSA	HP:0000007	Autosomal recessive inheritance
410	ARSA	HP:0002607	Bowel incontinence
410	ARSA	HP:0007663	Reduced visual acuity
410	ARSA	HP:0002080	Intention tremor
410	ARSA	HP:0002066	Gait ataxia
410	ARSA	HP:0002072	Chorea
410	ARSA	HP:0100575	Neoplasm of the gallbladder
410	ARSA	HP:0003487	Babinski sign
410	ARSA	HP:0003444	EMG: chronic denervation signs
410	ARSA	HP:0003445	EMG: neuropathic changes
410	ARSA	HP:0100753	Schizophrenia
410	ARSA	HP:0034687	Impaired cerebroside sulfate hydrolysis
410	ARSA	HP:0025013	Decerebrate rigidity
410	ARSA	HP:0002359	Frequent falls
410	ARSA	HP:0002376	Developmental regression
410	ARSA	HP:0002371	Loss of speech
410	ARSA	HP:0002355	Difficulty walking
410	ARSA	HP:0002354	Memory impairment
410	ARSA	HP:0001082	Cholecystitis
410	ARSA	HP:0007133	Progressive peripheral neuropathy
410	ARSA	HP:0002312	Clumsiness
410	ARSA	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
410	ARSA	HP:0000649	Abnormality of visual evoked potentials
410	ARSA	HP:0000648	Optic atrophy
410	ARSA	HP:0001939	Abnormality of metabolism/homeostasis
410	ARSA	HP:0005609	Gallbladder dysfunction
410	ARSA	HP:0004343	Abnormal glycosphingolipid metabolism
410	ARSA	HP:0000762	Decreased nerve conduction velocity
410	ARSA	HP:0000738	Hallucinations
410	ARSA	HP:0000736	Short attention span
410	ARSA	HP:0000746	Delusions
410	ARSA	HP:0000716	Depression
410	ARSA	HP:0000712	Emotional lability
410	ARSA	HP:0000726	Dementia
410	ARSA	HP:0003270	Abdominal distention
410	ARSA	HP:0030081	Punctate periventricular T2 hyperintense foci
410	ARSA	HP:0031358	Vegetative state
410	ARSA	HP:0030051	Tip-toe gait
410	ARSA	HP:0011096	Peripheral demyelination
410	ARSA	HP:0002922	Increased CSF protein concentration
410	ARSA	HP:0012433	Abnormal social behavior
411	ARSB	HP:0001171	Split hand
411	ARSB	HP:0010885	Avascular necrosis
411	ARSB	HP:0001250	Seizure
411	ARSB	HP:0001249	Intellectual disability
411	ARSB	HP:0001371	Flexion contracture
411	ARSB	HP:0001385	Hip dysplasia
411	ARSB	HP:0001387	Joint stiffness
411	ARSB	HP:0000023	Inguinal hernia
411	ARSB	HP:0002656	Epiphyseal dysplasia
411	ARSB	HP:0000007	Autosomal recessive inheritance
411	ARSB	HP:0012185	Constrictive median neuropathy
411	ARSB	HP:0000158	Macroglossia
411	ARSB	HP:0002788	Recurrent upper respiratory tract infections
411	ARSB	HP:0002751	Kyphoscoliosis
411	ARSB	HP:0003311	Hypoplasia of the odontoid process
411	ARSB	HP:0003300	Ovoid vertebral bodies
411	ARSB	HP:0002092	Pulmonary arterial hypertension
411	ARSB	HP:0002090	Pneumonia
411	ARSB	HP:0002091	Restrictive ventilatory defect
411	ARSB	HP:0010444	Pulmonary insufficiency
411	ARSB	HP:0011703	Sinus tachycardia
411	ARSB	HP:0010535	Sleep apnea
411	ARSB	HP:0003593	Infantile onset
411	ARSB	HP:0002240	Hepatomegaly
411	ARSB	HP:0011941	Anterior wedging of L2
411	ARSB	HP:0008301	Dermatan sulfate excretion in urine
411	ARSB	HP:0003521	Disproportionate short-trunk short stature
411	ARSB	HP:0001007	Hirsutism
411	ARSB	HP:0002318	Cervical myelopathy
411	ARSB	HP:0001072	Thickened skin
411	ARSB	HP:0008432	Anterior wedging of L1
411	ARSB	HP:0000684	Delayed eruption of teeth
411	ARSB	HP:0000670	Carious teeth
411	ARSB	HP:0004322	Short stature
411	ARSB	HP:0003016	Metaphyseal widening
411	ARSB	HP:0003025	Metaphyseal irregularity
411	ARSB	HP:0011410	Caesarian section
411	ARSB	HP:0000768	Pectus carinatum
411	ARSB	HP:0011463	Childhood onset
411	ARSB	HP:0000884	Prominent sternum
411	ARSB	HP:0000885	Broad ribs
411	ARSB	HP:0003274	Hypoplastic acetabulae
411	ARSB	HP:0000943	Dysostosis multiplex
411	ARSB	HP:0000280	Coarse facial features
411	ARSB	HP:0000256	Macrocephaly
411	ARSB	HP:0000268	Dolichocephaly
411	ARSB	HP:0002829	Arthralgia
411	ARSB	HP:0000238	Hydrocephalus
411	ARSB	HP:0002857	Genu valgum
411	ARSB	HP:0002869	Flared iliac wing
411	ARSB	HP:0001537	Umbilical hernia
411	ARSB	HP:0002866	Hypoplastic iliac wing
411	ARSB	HP:0002938	Lumbar hyperlordosis
411	ARSB	HP:0005180	Tricuspid regurgitation
411	ARSB	HP:0000365	Hearing impairment
411	ARSB	HP:0001653	Mitral regurgitation
411	ARSB	HP:0001638	Cardiomyopathy
411	ARSB	HP:0007957	Corneal opacity
411	ARSB	HP:0001718	Mitral stenosis
411	ARSB	HP:0005280	Depressed nasal bridge
411	ARSB	HP:0012450	Chronic constipation
411	ARSB	HP:0001744	Splenomegaly
411	ARSB	HP:0000501	Glaucoma
412	STS	HP:0002488	Acute leukemia
412	STS	HP:0010866	Abdominal wall defect
412	STS	HP:0001250	Seizure
412	STS	HP:0002577	Abnormal stomach morphology
412	STS	HP:0001249	Intellectual disability
412	STS	HP:0001263	Global developmental delay
412	STS	HP:0007431	Congenital ichthyosiform erythroderma
412	STS	HP:0000083	Renal insufficiency
412	STS	HP:0000028	Cryptorchidism
412	STS	HP:0001339	Lissencephaly
412	STS	HP:0000135	Hypogonadism
412	STS	HP:0000122	Unilateral renal agenesis
412	STS	HP:0001419	X-linked recessive inheritance
412	STS	HP:0002167	Abnormality of speech or vocalization
412	STS	HP:0033252	Palmar hyperlinearity
412	STS	HP:0003593	Infantile onset
412	STS	HP:0003577	Congenital onset
412	STS	HP:0007018	Attention deficit hyperactivity disorder
412	STS	HP:0002381	Aphasia
412	STS	HP:0100617	Testicular seminoma
412	STS	HP:0010788	Testicular neoplasm
412	STS	HP:0003623	Neonatal onset
412	STS	HP:0004298	Abnormality of the abdominal wall
412	STS	HP:0004322	Short stature
412	STS	HP:0000717	Autism
412	STS	HP:0011463	Childhood onset
412	STS	HP:0000982	Palmoplantar keratoderma
412	STS	HP:0000958	Dry skin
412	STS	HP:0000966	Hypohidrosis
412	STS	HP:0000962	Hyperkeratosis
412	STS	HP:0008064	Ichthyosis
412	STS	HP:0007759	Opacification of the corneal stroma
412	STS	HP:0007957	Corneal opacity
415	ARSL	HP:0009928	Thick nasal alae
415	ARSL	HP:0010880	Increased nuchal translucency
415	ARSL	HP:0009882	Short distal phalanx of finger
415	ARSL	HP:0001263	Global developmental delay
415	ARSL	HP:0008754	Laryngeal calcification
415	ARSL	HP:0008897	Postnatal growth retardation
415	ARSL	HP:0002643	Neonatal respiratory distress
415	ARSL	HP:0000135	Hypogonadism
415	ARSL	HP:0025426	Abnormal bronchus morphology
415	ARSL	HP:0002777	Tracheal stenosis
415	ARSL	HP:0002789	Tachypnea
415	ARSL	HP:0002787	Tracheal calcification
415	ARSL	HP:0001419	X-linked recessive inheritance
415	ARSL	HP:0002020	Gastroesophageal reflux
415	ARSL	HP:0004695	Calcaneal epiphyseal stippling
415	ARSL	HP:0002000	Short columella
415	ARSL	HP:0003320	C1-C2 subluxation
415	ARSL	HP:0003316	Butterfly vertebrae
415	ARSL	HP:0002099	Asthma
415	ARSL	HP:0003467	Atlantoaxial instability
415	ARSL	HP:0003417	Coronal cleft vertebrae
415	ARSL	HP:0003416	Spinal canal stenosis
415	ARSL	HP:0004887	Respiratory failure requiring assisted ventilation
415	ARSL	HP:0002205	Recurrent respiratory infections
415	ARSL	HP:0008417	Vertebral hypoplasia
415	ARSL	HP:0010666	Hypoplasia of the anterior nasal spine
415	ARSL	HP:0010655	Epiphyseal stippling
415	ARSL	HP:0010646	Cervical spine instability
415	ARSL	HP:0011968	Feeding difficulties
415	ARSL	HP:0003508	Proportionate short stature
415	ARSL	HP:0002341	Cervical cord compression
415	ARSL	HP:0008469	Cervical vertebral dysplasia
415	ARSL	HP:0008445	Cervical spinal canal stenosis
415	ARSL	HP:0008434	Hypoplastic cervical vertebrae
415	ARSL	HP:0008420	Punctate vertebral calcifications
415	ARSL	HP:0000609	Optic nerve hypoplasia
415	ARSL	HP:0004322	Short stature
415	ARSL	HP:0009107	Abnormal ossification involving the femoral head and neck
415	ARSL	HP:0010171	Epiphyseal stippling of toe phalanges
415	ARSL	HP:0004415	Pulmonary artery stenosis
415	ARSL	HP:0003196	Short nose
415	ARSL	HP:0000919	Abnormality of the costochondral junction
415	ARSL	HP:0000925	Abnormality of the vertebral column
415	ARSL	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand
415	ARSL	HP:0008064	Ichthyosis
415	ARSL	HP:0007766	Optic disc hypoplasia
415	ARSL	HP:0000252	Microcephaly
415	ARSL	HP:0002871	Central apnea
415	ARSL	HP:0012379	Abnormal circulating enzyme concentration or activity
415	ARSL	HP:0002947	Cervical kyphosis
415	ARSL	HP:0000365	Hearing impairment
415	ARSL	HP:0001643	Patent ductus arteriosus
415	ARSL	HP:0000327	Hypoplasia of the maxilla
415	ARSL	HP:0001629	Ventricular septal defect
415	ARSL	HP:0001631	Atrial septal defect
415	ARSL	HP:0005280	Depressed nasal bridge
415	ARSL	HP:0000458	Anosmia
415	ARSL	HP:0000455	Broad nasal tip
415	ARSL	HP:0000457	Depressed nasal ridge
415	ARSL	HP:0000420	Short nasal septum
415	ARSL	HP:0001742	Nasal congestion
415	ARSL	HP:0000410	Mixed hearing impairment
415	ARSL	HP:3000052	Abnormal hyoid bone morphology
415	ARSL	HP:0000518	Cataract
415	ARSL	HP:0001857	Short distal phalanx of toe
421	ARVCF	HP:0001166	Arachnodactyly
421	ARVCF	HP:0001161	Hand polydactyly
421	ARVCF	HP:0001136	Retinal arteriolar tortuosity
421	ARVCF	HP:0002435	Meningocele
421	ARVCF	HP:0007302	Bipolar affective disorder
421	ARVCF	HP:0007271	Occipital myelomeningocele
421	ARVCF	HP:0002414	Spina bifida
421	ARVCF	HP:0001281	Tetany
421	ARVCF	HP:0001256	Intellectual disability, mild
421	ARVCF	HP:0001250	Seizure
421	ARVCF	HP:0001252	Hypotonia
421	ARVCF	HP:0001249	Intellectual disability
421	ARVCF	HP:0001263	Global developmental delay
421	ARVCF	HP:0002566	Intestinal malrotation
421	ARVCF	HP:0000089	Renal hypoplasia
421	ARVCF	HP:0000076	Vesicoureteral reflux
421	ARVCF	HP:0001369	Arthritis
421	ARVCF	HP:0000047	Hypospadias
421	ARVCF	HP:0000023	Inguinal hernia
421	ARVCF	HP:0002691	Platybasia
421	ARVCF	HP:0000028	Cryptorchidism
421	ARVCF	HP:0008872	Feeding difficulties in infancy
421	ARVCF	HP:0001328	Specific learning disability
421	ARVCF	HP:0002650	Scoliosis
421	ARVCF	HP:0002619	Varicose veins
421	ARVCF	HP:0002607	Bowel incontinence
421	ARVCF	HP:0000164	Abnormality of the dentition
421	ARVCF	HP:0000160	Narrow mouth
421	ARVCF	HP:0000175	Cleft palate
421	ARVCF	HP:0000113	Polycystic kidney dysplasia
421	ARVCF	HP:0000130	Abnormality of the uterus
421	ARVCF	HP:0002721	Immunodeficiency
421	ARVCF	HP:0002023	Anal atresia
421	ARVCF	HP:0002020	Gastroesophageal reflux
421	ARVCF	HP:0002019	Constipation
421	ARVCF	HP:0003326	Myalgia
421	ARVCF	HP:0002099	Asthma
421	ARVCF	HP:0002139	Arrhinencephaly
421	ARVCF	HP:0002101	Abnormal lung lobation
421	ARVCF	HP:0002239	Gastrointestinal hemorrhage
421	ARVCF	HP:0002251	Aganglionic megacolon
421	ARVCF	HP:0100765	Abnormality of the tonsils
421	ARVCF	HP:0100735	Hypertensive crisis
421	ARVCF	HP:0100750	Atelectasis
421	ARVCF	HP:0100753	Schizophrenia
421	ARVCF	HP:0007018	Attention deficit hyperactivity disorder
421	ARVCF	HP:0001051	Seborrheic dermatitis
421	ARVCF	HP:0001053	Hypopigmented skin patches
421	ARVCF	HP:0002381	Aphasia
421	ARVCF	HP:0001061	Acne
421	ARVCF	HP:0001081	Cholelithiasis
421	ARVCF	HP:0005562	Multiple renal cysts
421	ARVCF	HP:0000648	Optic atrophy
421	ARVCF	HP:0000627	Posterior embryotoxon
421	ARVCF	HP:0000600	Abnormality of the pharynx
421	ARVCF	HP:0000682	Abnormal dental enamel morphology
421	ARVCF	HP:0011324	Multiple suture craniosynostosis
421	ARVCF	HP:0000670	Carious teeth
421	ARVCF	HP:0001999	Abnormal facial shape
421	ARVCF	HP:0004322	Short stature
421	ARVCF	HP:0030680	Abnormality of cardiovascular system morphology
421	ARVCF	HP:0005692	Joint hyperflexibility
421	ARVCF	HP:0012732	Anorectal anomaly
421	ARVCF	HP:0000765	Abnormal thorax morphology
421	ARVCF	HP:0000739	Anxiety
421	ARVCF	HP:0000716	Depression
421	ARVCF	HP:0000717	Autism
421	ARVCF	HP:0000708	Atypical behavior
421	ARVCF	HP:0011496	Corneal neovascularization
421	ARVCF	HP:0000778	Hypoplasia of the thymus
421	ARVCF	HP:0000929	Abnormal skull morphology
421	ARVCF	HP:0000836	Hyperthyroidism
421	ARVCF	HP:0000829	Hypoparathyroidism
421	ARVCF	HP:0000821	Hypothyroidism
421	ARVCF	HP:0011662	Tricuspid atresia
421	ARVCF	HP:0000979	Purpura
421	ARVCF	HP:0000286	Epicanthus
421	ARVCF	HP:0000262	Turricephaly
421	ARVCF	HP:0000276	Long face
421	ARVCF	HP:0000272	Malar flattening
421	ARVCF	HP:0000238	Hydrocephalus
421	ARVCF	HP:0000252	Microcephaly
421	ARVCF	HP:0001561	Polyhydramnios
421	ARVCF	HP:0001537	Umbilical hernia
421	ARVCF	HP:0001508	Failure to thrive
421	ARVCF	HP:0001511	Intrauterine growth retardation
421	ARVCF	HP:0001513	Obesity
421	ARVCF	HP:0006510	Chronic pulmonary obstruction
421	ARVCF	HP:0000385	Small earlobe
421	ARVCF	HP:0000396	Overfolded helix
421	ARVCF	HP:0000389	Chronic otitis media
421	ARVCF	HP:0001601	Laryngomalacia
421	ARVCF	HP:0001611	Hypernasal speech
421	ARVCF	HP:0002901	Hypocalcemia
421	ARVCF	HP:0000365	Hearing impairment
421	ARVCF	HP:0000369	Low-set ears
421	ARVCF	HP:0000343	Long philtrum
421	ARVCF	HP:0002999	Patellar dislocation
421	ARVCF	HP:0000347	Micrognathia
421	ARVCF	HP:0012303	Abnormal aortic arch morphology
421	ARVCF	HP:0000316	Hypertelorism
421	ARVCF	HP:0001646	Abnormal aortic valve morphology
421	ARVCF	HP:0001643	Patent ductus arteriosus
421	ARVCF	HP:0001660	Truncus arteriosus
421	ARVCF	HP:0000322	Short philtrum
421	ARVCF	HP:0002960	Autoimmunity
421	ARVCF	HP:0001629	Ventricular septal defect
421	ARVCF	HP:0001641	Abnormal pulmonary valve morphology
421	ARVCF	HP:0001636	Tetralogy of Fallot
421	ARVCF	HP:0001631	Atrial septal defect
421	ARVCF	HP:0000405	Conductive hearing impairment
421	ARVCF	HP:0000486	Strabismus
421	ARVCF	HP:0000494	Downslanted palpebral fissures
421	ARVCF	HP:0000492	Abnormal eyelid morphology
421	ARVCF	HP:0000470	Short neck
421	ARVCF	HP:0000453	Choanal atresia
421	ARVCF	HP:0000414	Bulbous nose
421	ARVCF	HP:0001744	Splenomegaly
421	ARVCF	HP:0001762	Talipes equinovarus
421	ARVCF	HP:0000431	Wide nasal bridge
421	ARVCF	HP:0000426	Prominent nasal bridge
421	ARVCF	HP:0005435	Impaired T cell function
421	ARVCF	HP:0000518	Cataract
421	ARVCF	HP:0001829	Foot polydactyly
421	ARVCF	HP:0000506	Telecanthus
421	ARVCF	HP:0000508	Ptosis
421	ARVCF	HP:0000501	Glaucoma
421	ARVCF	HP:0000582	Upslanted palpebral fissure
421	ARVCF	HP:0000568	Microphthalmia
421	ARVCF	HP:0001872	Abnormality of thrombocytes
421	ARVCF	HP:0001873	Thrombocytopenia
427	ASAH1	HP:0001187	Hyperextensibility of the finger joints
427	ASAH1	HP:0001155	Abnormality of the hand
427	ASAH1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
427	ASAH1	HP:0007269	Spinal muscular atrophy
427	ASAH1	HP:0003701	Proximal muscle weakness
427	ASAH1	HP:0001270	Motor delay
427	ASAH1	HP:0001268	Mental deterioration
427	ASAH1	HP:0001284	Areflexia
427	ASAH1	HP:0001250	Seizure
427	ASAH1	HP:0001249	Intellectual disability
427	ASAH1	HP:0001263	Global developmental delay
427	ASAH1	HP:0001257	Spasticity
427	ASAH1	HP:0007340	Lower limb muscle weakness
427	ASAH1	HP:0002540	Inability to walk
427	ASAH1	HP:0002515	Waddling gait
427	ASAH1	HP:0001399	Hepatic failure
427	ASAH1	HP:0001395	Hepatic fibrosis
427	ASAH1	HP:0001371	Flexion contracture
427	ASAH1	HP:0001369	Arthritis
427	ASAH1	HP:0001386	Joint swelling
427	ASAH1	HP:0025392	Nodular pattern on pulmonary HRCT
427	ASAH1	HP:0007470	Periarticular subcutaneous nodules
427	ASAH1	HP:0000007	Autosomal recessive inheritance
427	ASAH1	HP:0001337	Tremor
427	ASAH1	HP:0001336	Myoclonus
427	ASAH1	HP:0001308	Tongue fasciculations
427	ASAH1	HP:0002650	Scoliosis
427	ASAH1	HP:0001482	Subcutaneous nodule
427	ASAH1	HP:0008947	Infantile muscular hypotonia
427	ASAH1	HP:0008955	Progressive distal muscular atrophy
427	ASAH1	HP:0025423	Abnormal larynx morphology
427	ASAH1	HP:0025405	Visual fixation instability
427	ASAH1	HP:0002788	Recurrent upper respiratory tract infections
427	ASAH1	HP:0001433	Hepatosplenomegaly
427	ASAH1	HP:0002747	Respiratory insufficiency due to muscle weakness
427	ASAH1	HP:0002716	Lymphadenopathy
427	ASAH1	HP:0002028	Chronic diarrhea
427	ASAH1	HP:0002015	Dysphagia
427	ASAH1	HP:0002086	Abnormality of the respiratory system
427	ASAH1	HP:0002098	Respiratory distress
427	ASAH1	HP:0002093	Respiratory insufficiency
427	ASAH1	HP:0003391	Gowers sign
427	ASAH1	HP:0002123	Generalized myoclonic seizure
427	ASAH1	HP:0002100	Recurrent aspiration pneumonia
427	ASAH1	HP:0003444	EMG: chronic denervation signs
427	ASAH1	HP:0002197	Generalized-onset seizure
427	ASAH1	HP:0011842	Abnormal skeletal morphology
427	ASAH1	HP:0010501	Limitation of knee mobility
427	ASAH1	HP:0002240	Hepatomegaly
427	ASAH1	HP:0002207	Diffuse reticular or finely nodular infiltrations
427	ASAH1	HP:0002205	Recurrent respiratory infections
427	ASAH1	HP:0010729	Cherry red spot of the macula
427	ASAH1	HP:0100750	Atelectasis
427	ASAH1	HP:0011968	Feeding difficulties
427	ASAH1	HP:0010628	Facial palsy
427	ASAH1	HP:0002385	Paraparesis
427	ASAH1	HP:0002398	Degeneration of anterior horn cells
427	ASAH1	HP:0002366	Abnormal lower motor neuron morphology
427	ASAH1	HP:0002359	Frequent falls
427	ASAH1	HP:0002376	Developmental regression
427	ASAH1	HP:0003676	Progressive
427	ASAH1	HP:0002355	Difficulty walking
427	ASAH1	HP:0025097	Eyelid myoclonus
427	ASAH1	HP:0200036	Skin nodule
427	ASAH1	HP:0010819	Atonic seizure
427	ASAH1	HP:0009811	Abnormality of the elbow
427	ASAH1	HP:0009771	Osteolytic defects of the phalanges of the hand
427	ASAH1	HP:0002300	Mutism
427	ASAH1	HP:0002312	Clumsiness
427	ASAH1	HP:0003640	CNS foam cells
427	ASAH1	HP:0003621	Juvenile onset
427	ASAH1	HP:0034053	Decreased acid ceramidase activity
427	ASAH1	HP:0000639	Nystagmus
427	ASAH1	HP:0001954	Recurrent fever
427	ASAH1	HP:0000608	Macular degeneration
427	ASAH1	HP:0001903	Anemia
427	ASAH1	HP:0001999	Abnormal facial shape
427	ASAH1	HP:0004322	Short stature
427	ASAH1	HP:0004302	Functional motor deficit
427	ASAH1	HP:0003049	Ulnar deviation of the wrist
427	ASAH1	HP:0003019	Abnormality of the wrist
427	ASAH1	HP:0000766	Abnormal sternum morphology
427	ASAH1	HP:0000737	Irritability
427	ASAH1	HP:0000726	Dementia
427	ASAH1	HP:0000708	Atypical behavior
427	ASAH1	HP:0000707	Abnormality of the nervous system
427	ASAH1	HP:0011463	Childhood onset
427	ASAH1	HP:0009134	Osteolysis involving bones of the feet
427	ASAH1	HP:0003236	Elevated circulating creatine kinase concentration
427	ASAH1	HP:0003202	Skeletal muscle atrophy
427	ASAH1	HP:0045084	Limb myoclonus
427	ASAH1	HP:0000939	Osteoporosis
427	ASAH1	HP:0040139	Lipogranulomatosis
427	ASAH1	HP:0009381	Short finger
427	ASAH1	HP:0007759	Opacification of the corneal stroma
427	ASAH1	HP:0002815	Abnormality of the knee
427	ASAH1	HP:0002829	Arthralgia
427	ASAH1	HP:0002878	Respiratory failure
427	ASAH1	HP:0032667	Myoclonic status epilepticus
427	ASAH1	HP:0001541	Ascites
427	ASAH1	HP:0001508	Failure to thrive
427	ASAH1	HP:0006511	Laryngeal stridor
427	ASAH1	HP:0012379	Abnormal circulating enzyme concentration or activity
427	ASAH1	HP:0006575	Intrahepatic cholestasis with episodic jaundice
427	ASAH1	HP:0001609	Hoarse voice
427	ASAH1	HP:0001618	Dysphonia
427	ASAH1	HP:0001615	Hoarse cry
427	ASAH1	HP:0001612	Weak cry
427	ASAH1	HP:0002910	Elevated hepatic transaminase
427	ASAH1	HP:0001686	Loss of voice
427	ASAH1	HP:0007957	Corneal opacity
427	ASAH1	HP:0011147	Typical absence seizure
427	ASAH1	HP:0000407	Sensorineural hearing impairment
427	ASAH1	HP:0012469	Infantile spasms
427	ASAH1	HP:0012444	Brain atrophy
427	ASAH1	HP:0001789	Hydrops fetalis
427	ASAH1	HP:0001744	Splenomegaly
427	ASAH1	HP:0001760	Abnormal foot morphology
427	ASAH1	HP:0001757	High-frequency sensorineural hearing impairment
427	ASAH1	HP:0005483	Abnormal epiglottis morphology
427	ASAH1	HP:0000502	Abnormal conjunctiva morphology
427	ASAH1	HP:0001831	Short toe
427	ASAH1	HP:0001873	Thrombocytopenia
429	ASCL1	HP:0001250	Seizure
429	ASCL1	HP:0001252	Hypotonia
429	ASCL1	HP:0001249	Intellectual disability
429	ASCL1	HP:0002020	Gastroesophageal reflux
429	ASCL1	HP:0005957	Breathing dysregulation
429	ASCL1	HP:0010536	Central sleep apnea
429	ASCL1	HP:0002251	Aganglionic megacolon
429	ASCL1	HP:0007110	Central hypoventilation
429	ASCL1	HP:0003005	Ganglioneuroma
429	ASCL1	HP:0003006	Neuroblastoma
429	ASCL1	HP:0001562	Oligohydramnios
429	ASCL1	HP:0001561	Polyhydramnios
429	ASCL1	HP:0001558	Decreased fetal movement
429	ASCL1	HP:0001522	Death in infancy
429	ASCL1	HP:0001508	Failure to thrive
429	ASCL1	HP:0001518	Small for gestational age
429	ASCL1	HP:0012332	Abnormal autonomic nervous system physiology
429	ASCL1	HP:0000407	Sensorineural hearing impairment
429	ASCL1	HP:0000486	Strabismus
435	ASL	HP:0009886	Trichorrhexis nodosa
435	ASL	HP:0001254	Lethargy
435	ASL	HP:0001250	Seizure
435	ASL	HP:0001251	Ataxia
435	ASL	HP:0001249	Intellectual disability
435	ASL	HP:0001263	Global developmental delay
435	ASL	HP:0001259	Coma
435	ASL	HP:0001395	Hepatic fibrosis
435	ASL	HP:0008872	Feeding difficulties in infancy
435	ASL	HP:0000007	Autosomal recessive inheritance
435	ASL	HP:0003355	Aminoaciduria
435	ASL	HP:0002013	Vomiting
435	ASL	HP:0005961	Hypoargininemia
435	ASL	HP:0002038	Protein avoidance
435	ASL	HP:0002181	Cerebral edema
435	ASL	HP:0002240	Hepatomegaly
435	ASL	HP:0002299	Brittle hair
435	ASL	HP:0002353	EEG abnormality
435	ASL	HP:0003623	Neonatal onset
435	ASL	HP:0001951	Episodic ammonia intoxication
435	ASL	HP:0001950	Respiratory alkalosis
435	ASL	HP:0011359	Dry hair
435	ASL	HP:0011362	Abnormal hair quantity
435	ASL	HP:0001987	Hyperammonemia
435	ASL	HP:0004322	Short stature
435	ASL	HP:0031956	Elevated circulating aspartate aminotransferase concentration
435	ASL	HP:0000737	Irritability
435	ASL	HP:0003217	Hyperglutaminemia
435	ASL	HP:0003218	Oroticaciduria
435	ASL	HP:0001508	Failure to thrive
440	ASNS	HP:0001176	Large hands
440	ASNS	HP:0010851	EEG with burst suppression
440	ASNS	HP:0009879	Simplified gyral pattern
440	ASNS	HP:0001298	Encephalopathy
440	ASNS	HP:0001250	Seizure
440	ASNS	HP:0002539	Cortical dysplasia
440	ASNS	HP:0002521	Hypsarrhythmia
440	ASNS	HP:0002510	Spastic tetraplegia
440	ASNS	HP:0002509	Limb hypertonia
440	ASNS	HP:0001347	Hyperreflexia
440	ASNS	HP:0000007	Autosomal recessive inheritance
440	ASNS	HP:0001321	Cerebellar hypoplasia
440	ASNS	HP:0008936	Axial hypotonia
440	ASNS	HP:0012110	Hypoplasia of the pons
440	ASNS	HP:0002093	Respiratory insufficiency
440	ASNS	HP:0002079	Hypoplasia of the corpus callosum
440	ASNS	HP:0002119	Ventriculomegaly
440	ASNS	HP:0002267	Exaggerated startle response
440	ASNS	HP:0003593	Infantile onset
440	ASNS	HP:0100704	Cerebral visual impairment
440	ASNS	HP:0011968	Feeding difficulties
440	ASNS	HP:0003676	Progressive
440	ASNS	HP:0003623	Neonatal onset
440	ASNS	HP:0011344	Severe global developmental delay
440	ASNS	HP:0012736	Profound global developmental delay
440	ASNS	HP:0009110	Diaphragmatic eventration
440	ASNS	HP:0000253	Progressive microcephaly
440	ASNS	HP:0000252	Microcephaly
440	ASNS	HP:0001508	Failure to thrive
440	ASNS	HP:0000340	Sloping forehead
440	ASNS	HP:0000347	Micrognathia
440	ASNS	HP:0000400	Macrotia
440	ASNS	HP:0012448	Delayed myelination
440	ASNS	HP:0001833	Long foot
443	ASPA	HP:0002493	Upper motor neuron dysfunction
443	ASPA	HP:0002465	Poor speech
443	ASPA	HP:0007305	CNS demyelination
443	ASPA	HP:0032272	Elevated urinary N-acetylaspartic acid level
443	ASPA	HP:0032273	Increased circulating N-acetylaspartic acid concentration
443	ASPA	HP:0032274	Increased CSF N-acetylaspartic acid concentration
443	ASPA	HP:0007256	Abnormal pyramidal sign
443	ASPA	HP:0002421	Poor head control
443	ASPA	HP:0001270	Motor delay
443	ASPA	HP:0001254	Lethargy
443	ASPA	HP:0001250	Seizure
443	ASPA	HP:0001252	Hypotonia
443	ASPA	HP:0001263	Global developmental delay
443	ASPA	HP:0001257	Spasticity
443	ASPA	HP:0002540	Inability to walk
443	ASPA	HP:0002521	Hypsarrhythmia
443	ASPA	HP:0001387	Joint stiffness
443	ASPA	HP:0001355	Megalencephaly
443	ASPA	HP:0001347	Hyperreflexia
443	ASPA	HP:0001328	Specific learning disability
443	ASPA	HP:0001344	Absent speech
443	ASPA	HP:0000007	Autosomal recessive inheritance
443	ASPA	HP:0001476	Delayed closure of the anterior fontanelle
443	ASPA	HP:0025405	Visual fixation instability
443	ASPA	HP:0002020	Gastroesophageal reflux
443	ASPA	HP:0002033	Poor suck
443	ASPA	HP:0002013	Vomiting
443	ASPA	HP:0002069	Bilateral tonic-clonic seizure
443	ASPA	HP:0040288	Nasogastric tube feeding
443	ASPA	HP:0003487	Babinski sign
443	ASPA	HP:0002179	Opisthotonus
443	ASPA	HP:0003593	Infantile onset
443	ASPA	HP:0002200	Pseudobulbar signs
443	ASPA	HP:0200136	Oral-pharyngeal dysphagia
443	ASPA	HP:0011968	Feeding difficulties
443	ASPA	HP:0025013	Decerebrate rigidity
443	ASPA	HP:0002360	Sleep disturbance
443	ASPA	HP:0002376	Developmental regression
443	ASPA	HP:0010841	Multifocal epileptiform discharges
443	ASPA	HP:0025053	Elevated brain N-acetyl aspartate level by MRS
443	ASPA	HP:0000639	Nystagmus
443	ASPA	HP:0000648	Optic atrophy
443	ASPA	HP:0000618	Blindness
443	ASPA	HP:0011342	Mild global developmental delay
443	ASPA	HP:0004302	Functional motor deficit
443	ASPA	HP:0012751	Abnormal basal ganglia MRI signal intensity
443	ASPA	HP:0000737	Irritability
443	ASPA	HP:0000750	Delayed speech and language development
443	ASPA	HP:0011471	Gastrostomy tube feeding in infancy
443	ASPA	HP:0012762	Cerebral white matter atrophy
443	ASPA	HP:0040196	Mild microcephaly
443	ASPA	HP:0000256	Macrocephaly
443	ASPA	HP:0000252	Microcephaly
443	ASPA	HP:0011097	Epileptic spasm
443	ASPA	HP:0012379	Abnormal circulating enzyme concentration or activity
443	ASPA	HP:0001612	Weak cry
443	ASPA	HP:0000365	Hearing impairment
443	ASPA	HP:0012444	Brain atrophy
443	ASPA	HP:0000510	Rod-cone dystrophy
443	ASPA	HP:0000505	Visual impairment
444	ASPH	HP:0001166	Arachnodactyly
444	ASPH	HP:0001132	Lens subluxation
444	ASPH	HP:0001388	Joint laxity
444	ASPH	HP:0000007	Autosomal recessive inheritance
444	ASPH	HP:0000193	Bifid uvula
444	ASPH	HP:0007663	Reduced visual acuity
444	ASPH	HP:0002156	Homocystinuria
444	ASPH	HP:0001089	Iris atrophy
444	ASPH	HP:0001083	Ectopia lentis
444	ASPH	HP:0020125	Spontaneous conjunctival filtering bleb
444	ASPH	HP:0012629	Phakodonesis
444	ASPH	HP:0010055	Broad hallux
444	ASPH	HP:0000689	Dental malocclusion
444	ASPH	HP:0000767	Pectus excavatum
444	ASPH	HP:0011483	Anterior synechiae of the anterior chamber
444	ASPH	HP:0011463	Childhood onset
444	ASPH	HP:0034375	Spherophakia
444	ASPH	HP:0009381	Short finger
444	ASPH	HP:0000278	Retrognathia
444	ASPH	HP:0000276	Long face
444	ASPH	HP:0000272	Malar flattening
444	ASPH	HP:0000218	High palate
444	ASPH	HP:0011003	High myopia
444	ASPH	HP:0000324	Facial asymmetry
444	ASPH	HP:0002967	Cubitus valgus
444	ASPH	HP:0031624	Moderate myopia
444	ASPH	HP:0007906	Ocular hypertension
444	ASPH	HP:0000494	Downslanted palpebral fissures
444	ASPH	HP:0001763	Pes planus
444	ASPH	HP:0000448	Prominent nose
444	ASPH	HP:0000444	Convex nasal ridge
444	ASPH	HP:0000445	Wide nose
444	ASPH	HP:0000426	Prominent nasal bridge
444	ASPH	HP:0000518	Cataract
444	ASPH	HP:0000505	Visual impairment
444	ASPH	HP:0000594	Shallow anterior chamber
444	ASPH	HP:0000568	Microphthalmia
445	ASS1	HP:0001297	Stroke
445	ASS1	HP:0001254	Lethargy
445	ASS1	HP:0001250	Seizure
445	ASS1	HP:0001251	Ataxia
445	ASS1	HP:0001249	Intellectual disability
445	ASS1	HP:0001263	Global developmental delay
445	ASS1	HP:0001259	Coma
445	ASS1	HP:0001394	Cirrhosis
445	ASS1	HP:0000007	Autosomal recessive inheritance
445	ASS1	HP:0002013	Vomiting
445	ASS1	HP:0005961	Hypoargininemia
445	ASS1	HP:0002038	Protein avoidance
445	ASS1	HP:0002181	Cerebral edema
445	ASS1	HP:0003593	Infantile onset
445	ASS1	HP:0002240	Hepatomegaly
445	ASS1	HP:0011966	Elevated plasma citrulline
445	ASS1	HP:0003623	Neonatal onset
445	ASS1	HP:0003621	Juvenile onset
445	ASS1	HP:0001951	Episodic ammonia intoxication
445	ASS1	HP:0001950	Respiratory alkalosis
445	ASS1	HP:0001987	Hyperammonemia
445	ASS1	HP:0000737	Irritability
445	ASS1	HP:0003217	Hyperglutaminemia
445	ASS1	HP:0003218	Oroticaciduria
445	ASS1	HP:0001508	Failure to thrive
462	SERPINC1	HP:0025324	Arterial occlusion
462	SERPINC1	HP:0000007	Autosomal recessive inheritance
462	SERPINC1	HP:0000006	Autosomal dominant inheritance
462	SERPINC1	HP:0002638	Superficial thrombophlebitis
462	SERPINC1	HP:0002625	Deep venous thrombosis
462	SERPINC1	HP:0002204	Pulmonary embolism
462	SERPINC1	HP:0004831	Recurrent thromboembolism
462	SERPINC1	HP:0200067	Recurrent spontaneous abortion
462	SERPINC1	HP:0001976	Reduced antithrombin III activity
462	SERPINC1	HP:0012636	Retinal vein occlusion
462	SERPINC1	HP:0004420	Arterial thrombosis
462	SERPINC1	HP:0004419	Recurrent thrombophlebitis
462	SERPINC1	HP:0040226	Decreased level of heparin co-factor II
462	SERPINC1	HP:0040246	Reduced antithrombin antigen
462	SERPINC1	HP:0005268	Miscarriage
462	SERPINC1	HP:0031437	Pregnancy exposure
462	SERPINC1	HP:0005305	Cerebral venous thrombosis
462	SERPINC1	HP:0030248	Mesenteric venous thrombosis
462	SERPINC1	HP:0030243	Hepatic vein thrombosis
462	SERPINC1	HP:0030242	Portal vein thrombosis
463	ZFHX3	HP:0000006	Autosomal dominant inheritance
463	ZFHX3	HP:0012125	Prostate cancer
463	ZFHX3	HP:0001428	Somatic mutation
471	ATIC	HP:0010864	Intellectual disability, severe
471	ATIC	HP:0001250	Seizure
471	ATIC	HP:0001252	Hypotonia
471	ATIC	HP:0008665	Clitoral hypertrophy
471	ATIC	HP:0000063	Fused labia minora
471	ATIC	HP:0000007	Autosomal recessive inheritance
471	ATIC	HP:0000154	Wide mouth
471	ATIC	HP:0002007	Frontal bossing
471	ATIC	HP:0002187	Intellectual disability, profound
471	ATIC	HP:0034565	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level
471	ATIC	HP:0003577	Congenital onset
471	ATIC	HP:0010781	Skin dimple
471	ATIC	HP:0000648	Optic atrophy
471	ATIC	HP:0001943	Hypoglycemia
471	ATIC	HP:0000248	Brachycephaly
471	ATIC	HP:0000219	Thin upper lip vermilion
471	ATIC	HP:0007875	Congenital blindness
471	ATIC	HP:0002902	Hyponatremia
471	ATIC	HP:0000369	Low-set ears
471	ATIC	HP:0001684	Secundum atrial septal defect
471	ATIC	HP:0000463	Anteverted nares
471	ATIC	HP:0000426	Prominent nasal bridge
471	ATIC	HP:0005487	Prominent metopic ridge
471	ATIC	HP:0011220	Prominent forehead
471	ATIC	HP:0000565	Esotropia
472	ATM	HP:0001288	Gait disturbance
472	ATM	HP:0001250	Seizure
472	ATM	HP:0001251	Ataxia
472	ATM	HP:0001266	Choreoathetosis
472	ATM	HP:0001260	Dysarthria
472	ATM	HP:0001257	Spasticity
472	ATM	HP:0010975	Abnormal B cell count
472	ATM	HP:0008669	Abnormal spermatogenesis
472	ATM	HP:0002540	Inability to walk
472	ATM	HP:0001350	Slurred speech
472	ATM	HP:0000035	Abnormal testis morphology
472	ATM	HP:0007565	Multiple cafe-au-lait spots
472	ATM	HP:0007495	Prematurely aged appearance
472	ATM	HP:0002664	Neoplasm
472	ATM	HP:0001332	Dystonia
472	ATM	HP:0000007	Autosomal recessive inheritance
472	ATM	HP:0002665	Lymphoma
472	ATM	HP:0001337	Tremor
472	ATM	HP:0000006	Autosomal dominant inheritance
472	ATM	HP:0001336	Myoclonus
472	ATM	HP:0001315	Reduced tendon reflexes
472	ATM	HP:0012191	B-cell lymphoma
472	ATM	HP:0012189	Hodgkin lymphoma
472	ATM	HP:0000147	Polycystic ovaries
472	ATM	HP:0006254	Elevated circulating alpha-fetoprotein concentration
472	ATM	HP:0002783	Recurrent lower respiratory tract infections
472	ATM	HP:0000134	Female hypogonadism
472	ATM	HP:0001428	Somatic mutation
472	ATM	HP:0002715	Abnormality of the immune system
472	ATM	HP:0002716	Lymphadenopathy
472	ATM	HP:0002720	Decreased circulating IgA level
472	ATM	HP:0002721	Immunodeficiency
472	ATM	HP:0002028	Chronic diarrhea
472	ATM	HP:0005978	Type II diabetes mellitus
472	ATM	HP:0002080	Intention tremor
472	ATM	HP:0100543	Cognitive impairment
472	ATM	HP:0002075	Dysdiadochokinesis
472	ATM	HP:0002073	Progressive cerebellar ataxia
472	ATM	HP:0002039	Anorexia
472	ATM	HP:0100585	Telangiectasia of the skin
472	ATM	HP:0100579	Mucosal telangiectasiae
472	ATM	HP:0002110	Bronchiectasis
472	ATM	HP:0002167	Abnormality of speech or vocalization
472	ATM	HP:0010515	Aplasia/Hypoplasia of the thymus
472	ATM	HP:0002216	Premature graying of hair
472	ATM	HP:0002205	Recurrent respiratory infections
472	ATM	HP:0008348	Decreased circulating IgG2 level
472	ATM	HP:0005599	Hypopigmentation of hair
472	ATM	HP:0005561	Abnormality of bone marrow cell morphology
472	ATM	HP:0000639	Nystagmus
472	ATM	HP:0001945	Fever
472	ATM	HP:0001952	Glucose intolerance
472	ATM	HP:0001909	Leukemia
472	ATM	HP:0004322	Short stature
472	ATM	HP:0004315	Decreased circulating IgG level
472	ATM	HP:0003002	Breast carcinoma
472	ATM	HP:0004313	Decreased circulating antibody level
472	ATM	HP:0100022	Abnormality of movement
472	ATM	HP:0000750	Delayed speech and language development
472	ATM	HP:0011463	Childhood onset
472	ATM	HP:0000778	Hypoplasia of the thymus
472	ATM	HP:0000819	Diabetes mellitus
472	ATM	HP:0000823	Delayed puberty
472	ATM	HP:0003220	Abnormality of chromosome stability
472	ATM	HP:0003202	Skeletal muscle atrophy
472	ATM	HP:0000957	Cafe-au-lait spot
472	ATM	HP:0008065	Aplasia/Hypoplasia of the skin
472	ATM	HP:0001595	Abnormal hair morphology
472	ATM	HP:0000252	Microcephaly
472	ATM	HP:0000246	Sinusitis
472	ATM	HP:0001508	Failure to thrive
472	ATM	HP:0002837	Recurrent bronchitis
472	ATM	HP:0012378	Fatigue
472	ATM	HP:0002910	Elevated hepatic transaminase
472	ATM	HP:0011024	Abnormality of the gastrointestinal tract
472	ATM	HP:0005374	Cellular immunodeficiency
472	ATM	HP:0005357	Defective B cell differentiation
472	ATM	HP:0000486	Strabismus
472	ATM	HP:0000496	Abnormality of eye movement
472	ATM	HP:0001744	Splenomegaly
472	ATM	HP:0005407	Decreased proportion of CD4-positive helper T cells
472	ATM	HP:0005403	T lymphocytopenia
472	ATM	HP:0006721	Acute lymphoblastic leukemia
472	ATM	HP:0000524	Conjunctival telangiectasia
472	ATM	HP:0001824	Weight loss
472	ATM	HP:0001888	Lymphopenia
472	ATM	HP:0012539	Non-Hodgkin lymphoma
473	RERE	HP:0001156	Brachydactyly
473	RERE	HP:0001159	Syndactyly
473	RERE	HP:0002465	Poor speech
473	RERE	HP:0001107	Ocular albinism
473	RERE	HP:0007305	CNS demyelination
473	RERE	HP:0008551	Microtia
473	RERE	HP:0001290	Generalized hypotonia
473	RERE	HP:0001274	Agenesis of corpus callosum
473	RERE	HP:0001288	Gait disturbance
473	RERE	HP:0001285	Spastic tetraparesis
473	RERE	HP:0001250	Seizure
473	RERE	HP:0001252	Hypotonia
473	RERE	HP:0001249	Intellectual disability
473	RERE	HP:0001260	Dysarthria
473	RERE	HP:0002591	Polyphagia
473	RERE	HP:0001263	Global developmental delay
473	RERE	HP:0008736	Hypoplasia of penis
473	RERE	HP:0410263	Brain imaging abnormality
473	RERE	HP:0000098	Tall stature
473	RERE	HP:0001397	Hepatic steatosis
473	RERE	HP:0001392	Abnormality of the liver
473	RERE	HP:0000077	Abnormality of the kidney
473	RERE	HP:0000076	Vesicoureteral reflux
473	RERE	HP:0000055	Abnormality of female external genitalia
473	RERE	HP:0001385	Hip dysplasia
473	RERE	HP:0001387	Joint stiffness
473	RERE	HP:0000047	Hypospadias
473	RERE	HP:0000028	Cryptorchidism
473	RERE	HP:0007565	Multiple cafe-au-lait spots
473	RERE	HP:0008897	Postnatal growth retardation
473	RERE	HP:0008872	Feeding difficulties in infancy
473	RERE	HP:0001344	Absent speech
473	RERE	HP:0000006	Autosomal dominant inheritance
473	RERE	HP:0001320	Cerebellar vermis hypoplasia
473	RERE	HP:0002650	Scoliosis
473	RERE	HP:0000187	Broad alveolar ridges
473	RERE	HP:0000160	Narrow mouth
473	RERE	HP:0000135	Hypogonadism
473	RERE	HP:0410030	Cleft lip
473	RERE	HP:0012110	Hypoplasia of the pons
473	RERE	HP:0000119	Abnormality of the genitourinary system
473	RERE	HP:0000126	Hydronephrosis
473	RERE	HP:0000107	Renal cyst
473	RERE	HP:0002715	Abnormality of the immune system
473	RERE	HP:0002021	Pyloric stenosis
473	RERE	HP:0002020	Gastroesophageal reflux
473	RERE	HP:0002019	Constipation
473	RERE	HP:0002033	Poor suck
473	RERE	HP:0002015	Dysphagia
473	RERE	HP:0002007	Frontal bossing
473	RERE	HP:0011800	Midface retrusion
473	RERE	HP:0100559	Lower limb asymmetry
473	RERE	HP:0002079	Hypoplasia of the corpus callosum
473	RERE	HP:0002120	Cerebral cortical atrophy
473	RERE	HP:0002119	Ventriculomegaly
473	RERE	HP:0003416	Spinal canal stenosis
473	RERE	HP:0002188	Delayed CNS myelination
473	RERE	HP:0002167	Abnormality of speech or vocalization
473	RERE	HP:0100490	Camptodactyly of finger
473	RERE	HP:0010535	Sleep apnea
473	RERE	HP:0003593	Infantile onset
473	RERE	HP:0002242	Abnormal intestine morphology
473	RERE	HP:0100704	Cerebral visual impairment
473	RERE	HP:0100716	Self-injurious behavior
473	RERE	HP:0002247	Duodenal atresia
473	RERE	HP:0002230	Generalized hirsutism
473	RERE	HP:0007018	Attention deficit hyperactivity disorder
473	RERE	HP:0011968	Feeding difficulties
473	RERE	HP:0001009	Telangiectasia
473	RERE	HP:0002353	EEG abnormality
473	RERE	HP:0008499	High hypermetropia
473	RERE	HP:0004209	Clinodactyly of the 5th finger
473	RERE	HP:0006824	Cranial nerve paralysis
473	RERE	HP:0000639	Nystagmus
473	RERE	HP:0000648	Optic atrophy
473	RERE	HP:0000612	Iris coloboma
473	RERE	HP:0000601	Hypotelorism
473	RERE	HP:0000659	Peters anomaly
473	RERE	HP:0001999	Abnormal facial shape
473	RERE	HP:0004322	Short stature
473	RERE	HP:0030680	Abnormality of cardiovascular system morphology
473	RERE	HP:0004378	Abnormality of the anus
473	RERE	HP:0004374	Hemiplegia/hemiparesis
473	RERE	HP:0031910	Abnormal cranial nerve physiology
473	RERE	HP:0003006	Neuroblastoma
473	RERE	HP:0012733	Macule
473	RERE	HP:0000733	Abnormal repetitive mannerisms
473	RERE	HP:0000750	Delayed speech and language development
473	RERE	HP:0000717	Autism
473	RERE	HP:0000729	Autistic behavior
473	RERE	HP:0000708	Atypical behavior
473	RERE	HP:0003198	Myopathy
473	RERE	HP:0003186	Inverted nipples
473	RERE	HP:0000902	Rib fusion
473	RERE	HP:0000878	11 pairs of ribs
473	RERE	HP:0000892	Bifid ribs
473	RERE	HP:0012803	Anisometropia
473	RERE	HP:0000821	Hypothyroidism
473	RERE	HP:0008066	Abnormal blistering of the skin
473	RERE	HP:0000286	Epicanthus
473	RERE	HP:0000256	Macrocephaly
473	RERE	HP:0000270	Delayed cranial suture closure
473	RERE	HP:0005113	Aortic arch aneurysm
473	RERE	HP:0002808	Kyphosis
473	RERE	HP:0000252	Microcephaly
473	RERE	HP:0000248	Brachycephaly
473	RERE	HP:0000221	Furrowed tongue
473	RERE	HP:0000218	High palate
473	RERE	HP:0001508	Failure to thrive
473	RERE	HP:0001511	Intrauterine growth retardation
473	RERE	HP:0001513	Obesity
473	RERE	HP:0000377	Abnormal pinna morphology
473	RERE	HP:0002938	Lumbar hyperlordosis
473	RERE	HP:0000365	Hearing impairment
473	RERE	HP:0000358	Posteriorly rotated ears
473	RERE	HP:0000369	Low-set ears
473	RERE	HP:0000368	Low-set, posteriorly rotated ears
473	RERE	HP:0001671	Abnormal cardiac septum morphology
473	RERE	HP:0000343	Long philtrum
473	RERE	HP:0000349	Widow's peak
473	RERE	HP:0000347	Micrognathia
473	RERE	HP:0000319	Smooth philtrum
473	RERE	HP:0000316	Hypertelorism
473	RERE	HP:0001643	Patent ductus arteriosus
473	RERE	HP:0001644	Dilated cardiomyopathy
473	RERE	HP:0001654	Abnormal heart valve morphology
473	RERE	HP:0000325	Triangular face
473	RERE	HP:0001655	Patent foramen ovale
473	RERE	HP:0001629	Ventricular septal defect
473	RERE	HP:0001627	Abnormal heart morphology
473	RERE	HP:0001636	Tetralogy of Fallot
473	RERE	HP:0000307	Pointed chin
473	RERE	HP:0030303	Hypoplastic anterior commissure
473	RERE	HP:0000407	Sensorineural hearing impairment
473	RERE	HP:0001734	Annular pancreas
473	RERE	HP:0000405	Conductive hearing impairment
473	RERE	HP:0005280	Depressed nasal bridge
473	RERE	HP:0000483	Astigmatism
473	RERE	HP:0000486	Strabismus
473	RERE	HP:0000478	Abnormality of the eye
473	RERE	HP:0000494	Downslanted palpebral fissures
473	RERE	HP:0000490	Deeply set eye
473	RERE	HP:0001792	Small nail
473	RERE	HP:0000464	Abnormality of the neck
473	RERE	HP:0000463	Anteverted nares
473	RERE	HP:0000457	Depressed nasal ridge
473	RERE	HP:0001773	Short foot
473	RERE	HP:0000453	Choanal atresia
473	RERE	HP:0000414	Bulbous nose
473	RERE	HP:0001743	Abnormality of the spleen
473	RERE	HP:0000431	Wide nasal bridge
473	RERE	HP:0000518	Cataract
473	RERE	HP:0001829	Foot polydactyly
473	RERE	HP:0000508	Ptosis
473	RERE	HP:0000505	Visual impairment
473	RERE	HP:0000504	Abnormality of vision
473	RERE	HP:0000582	Upslanted palpebral fissure
473	RERE	HP:0000581	Blepharophimosis
473	RERE	HP:0000577	Exotropia
473	RERE	HP:0011229	Broad eyebrow
473	RERE	HP:0011228	Horizontal eyebrow
473	RERE	HP:0000589	Coloboma
473	RERE	HP:0000568	Microphthalmia
473	RERE	HP:0000565	Esotropia
473	RERE	HP:0000567	Chorioretinal coloboma
473	RERE	HP:0000534	Abnormal eyebrow morphology
473	RERE	HP:0000545	Myopia
476	ATP1A1	HP:0002465	Poor speech
476	ATP1A1	HP:0002460	Distal muscle weakness
476	ATP1A1	HP:0001284	Areflexia
476	ATP1A1	HP:0001250	Seizure
476	ATP1A1	HP:0001265	Hyporeflexia
476	ATP1A1	HP:0001263	Global developmental delay
476	ATP1A1	HP:0000006	Autosomal dominant inheritance
476	ATP1A1	HP:0012169	Self-biting
476	ATP1A1	HP:0000121	Nephrocalcinosis
476	ATP1A1	HP:0000128	Renal potassium wasting
476	ATP1A1	HP:0000103	Polyuria
476	ATP1A1	HP:0003394	Muscle spasm
476	ATP1A1	HP:0003376	Steppage gait
476	ATP1A1	HP:0002119	Ventriculomegaly
476	ATP1A1	HP:0002133	Status epilepticus
476	ATP1A1	HP:0002197	Generalized-onset seizure
476	ATP1A1	HP:0002194	Delayed gross motor development
476	ATP1A1	HP:0003593	Infantile onset
476	ATP1A1	HP:0003581	Adult onset
476	ATP1A1	HP:0003693	Distal amyotrophy
476	ATP1A1	HP:0003677	Slowly progressive
476	ATP1A1	HP:0007141	Sensorimotor neuropathy
476	ATP1A1	HP:0003623	Neonatal onset
476	ATP1A1	HP:0003621	Juvenile onset
476	ATP1A1	HP:0006872	Cerebral hypoplasia
476	ATP1A1	HP:0005567	Renal magnesium wasting
476	ATP1A1	HP:0006886	Impaired distal vibration sensation
476	ATP1A1	HP:0009027	Foot dorsiflexor weakness
476	ATP1A1	HP:0000752	Hyperactivity
476	ATP1A1	HP:0012726	Episodic hypokalemia
476	ATP1A1	HP:0000729	Autistic behavior
476	ATP1A1	HP:0002917	Hypomagnesemia
476	ATP1A1	HP:0002900	Hypokalemia
476	ATP1A1	HP:0001761	Pes cavus
477	ATP1A2	HP:0002483	Bulbar signs
477	ATP1A2	HP:0001125	Transient unilateral blurring of vision
477	ATP1A2	HP:0020221	Clonic seizure
477	ATP1A2	HP:0007256	Abnormal pyramidal sign
477	ATP1A2	HP:0007240	Progressive gait ataxia
477	ATP1A2	HP:0007209	Facial paralysis
477	ATP1A2	HP:0010851	EEG with burst suppression
477	ATP1A2	HP:0002421	Poor head control
477	ATP1A2	HP:0001298	Encephalopathy
477	ATP1A2	HP:0001290	Generalized hypotonia
477	ATP1A2	HP:0001272	Cerebellar atrophy
477	ATP1A2	HP:0001273	Abnormal corpus callosum morphology
477	ATP1A2	HP:0001269	Hemiparesis
477	ATP1A2	HP:0001268	Mental deterioration
477	ATP1A2	HP:0001289	Confusion
477	ATP1A2	HP:0001284	Areflexia
477	ATP1A2	HP:0001250	Seizure
477	ATP1A2	HP:0001252	Hypotonia
477	ATP1A2	HP:0001251	Ataxia
477	ATP1A2	HP:0002579	Gastrointestinal dysmotility
477	ATP1A2	HP:0001249	Intellectual disability
477	ATP1A2	HP:0001265	Hyporeflexia
477	ATP1A2	HP:0001266	Choreoathetosis
477	ATP1A2	HP:0001260	Dysarthria
477	ATP1A2	HP:0001263	Global developmental delay
477	ATP1A2	HP:0001257	Spasticity
477	ATP1A2	HP:0001259	Coma
477	ATP1A2	HP:0410263	Brain imaging abnormality
477	ATP1A2	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract
477	ATP1A2	HP:0007359	Focal-onset seizure
477	ATP1A2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
477	ATP1A2	HP:0002536	Abnormal cortical gyration
477	ATP1A2	HP:0002521	Hypsarrhythmia
477	ATP1A2	HP:0003829	Typified by incomplete penetrance
477	ATP1A2	HP:0002509	Limb hypertonia
477	ATP1A2	HP:0003819	Death in childhood
477	ATP1A2	HP:0003811	Neonatal death
477	ATP1A2	HP:0012044	Seesaw nystagmus
477	ATP1A2	HP:0000023	Inguinal hernia
477	ATP1A2	HP:0001347	Hyperreflexia
477	ATP1A2	HP:0032506	Alien limb phenomenon
477	ATP1A2	HP:0031179	Nuchal rigidity
477	ATP1A2	HP:0001332	Dystonia
477	ATP1A2	HP:0033725	Thin corpus callosum
477	ATP1A2	HP:0001324	Muscle weakness
477	ATP1A2	HP:0001344	Absent speech
477	ATP1A2	HP:0000007	Autosomal recessive inheritance
477	ATP1A2	HP:0001337	Tremor
477	ATP1A2	HP:0000006	Autosomal dominant inheritance
477	ATP1A2	HP:0001336	Myoclonus
477	ATP1A2	HP:0001310	Dysmetria
477	ATP1A2	HP:0001308	Tongue fasciculations
477	ATP1A2	HP:0001315	Reduced tendon reflexes
477	ATP1A2	HP:0012194	Episodic hemiplegia
477	ATP1A2	HP:0008959	Distal upper limb muscle weakness
477	ATP1A2	HP:0031284	Flushing
477	ATP1A2	HP:0002714	Downturned corners of mouth
477	ATP1A2	HP:0002020	Gastroesophageal reflux
477	ATP1A2	HP:0002018	Nausea
477	ATP1A2	HP:0002019	Constipation
477	ATP1A2	HP:0002014	Diarrhea
477	ATP1A2	HP:0002015	Dysphagia
477	ATP1A2	HP:0002013	Vomiting
477	ATP1A2	HP:0002098	Respiratory distress
477	ATP1A2	HP:0002069	Bilateral tonic-clonic seizure
477	ATP1A2	HP:0002066	Gait ataxia
477	ATP1A2	HP:0002063	Rigidity
477	ATP1A2	HP:0003392	First dorsal interossei muscle weakness
477	ATP1A2	HP:0002076	Migraine
477	ATP1A2	HP:0002077	Migraine with aura
477	ATP1A2	HP:0002072	Chorea
477	ATP1A2	HP:0002039	Anorexia
477	ATP1A2	HP:0002059	Cerebral atrophy
477	ATP1A2	HP:0100576	Amaurosis fugax
477	ATP1A2	HP:0002133	Status epilepticus
477	ATP1A2	HP:0002131	Episodic ataxia
477	ATP1A2	HP:0002126	Polymicrogyria
477	ATP1A2	HP:0002104	Apnea
477	ATP1A2	HP:0002186	Apraxia
477	ATP1A2	HP:0002181	Cerebral edema
477	ATP1A2	HP:0002167	Abnormality of speech or vocalization
477	ATP1A2	HP:0002172	Postural instability
477	ATP1A2	HP:0010544	Vertical nystagmus
477	ATP1A2	HP:0010535	Sleep apnea
477	ATP1A2	HP:0003401	Paresthesia
477	ATP1A2	HP:0002263	Exaggerated cupid's bow
477	ATP1A2	HP:0003593	Infantile onset
477	ATP1A2	HP:0002273	Tetraparesis
477	ATP1A2	HP:0100710	Impulsivity
477	ATP1A2	HP:0200149	CSF lymphocytic pleiocytosis
477	ATP1A2	HP:0200136	Oral-pharyngeal dysphagia
477	ATP1A2	HP:0007018	Attention deficit hyperactivity disorder
477	ATP1A2	HP:0032044	Decreased vigilance
477	ATP1A2	HP:0011968	Feeding difficulties
477	ATP1A2	HP:0007074	Thick corpus callosum
477	ATP1A2	HP:0002381	Aphasia
477	ATP1A2	HP:0002376	Developmental regression
477	ATP1A2	HP:0002344	Progressive neurologic deterioration
477	ATP1A2	HP:0002355	Difficulty walking
477	ATP1A2	HP:0002353	EEG abnormality
477	ATP1A2	HP:0002321	Vertigo
477	ATP1A2	HP:0002317	Unsteady gait
477	ATP1A2	HP:0002315	Headache
477	ATP1A2	HP:0002329	Drowsiness
477	ATP1A2	HP:0010844	EEG with multifocal slow activity
477	ATP1A2	HP:0010835	Dissociated sensory loss
477	ATP1A2	HP:0010833	Spontaneous pain sensation
477	ATP1A2	HP:0100660	Dyskinesia
477	ATP1A2	HP:0010829	Impaired temperature sensation
477	ATP1A2	HP:0200072	Episodic quadriplegia
477	ATP1A2	HP:0007166	Paroxysmal dyskinesia
477	ATP1A2	HP:0002301	Hemiplegia
477	ATP1A2	HP:0003623	Neonatal onset
477	ATP1A2	HP:0003621	Juvenile onset
477	ATP1A2	HP:0000639	Nystagmus
477	ATP1A2	HP:0000651	Diplopia
477	ATP1A2	HP:0000648	Optic atrophy
477	ATP1A2	HP:0001944	Dehydration
477	ATP1A2	HP:0001945	Fever
477	ATP1A2	HP:0000622	Blurred vision
477	ATP1A2	HP:0012650	Perisylvian polymicrogyria
477	ATP1A2	HP:0000657	Oculomotor apraxia
477	ATP1A2	HP:0001989	Fetal akinesia sequence
477	ATP1A2	HP:0000668	Hypodontia
477	ATP1A2	HP:0004322	Short stature
477	ATP1A2	HP:0004305	Involuntary movements
477	ATP1A2	HP:0031931	Ocular flutter
477	ATP1A2	HP:0000750	Delayed speech and language development
477	ATP1A2	HP:0000718	Aggressive behavior
477	ATP1A2	HP:0000717	Autism
477	ATP1A2	HP:0000712	Emotional lability
477	ATP1A2	HP:0000708	Atypical behavior
477	ATP1A2	HP:0011499	Mydriasis
477	ATP1A2	HP:0011468	Facial tics
477	ATP1A2	HP:0011463	Childhood onset
477	ATP1A2	HP:0011462	Young adult onset
477	ATP1A2	HP:0011461	Fetal onset
477	ATP1A2	HP:0011443	Abnormality of coordination
477	ATP1A2	HP:0012758	Neurodevelopmental delay
477	ATP1A2	HP:0030786	Photopsia
477	ATP1A2	HP:0003270	Abdominal distention
477	ATP1A2	HP:0045074	Thin eyebrow
477	ATP1A2	HP:0000980	Pallor
477	ATP1A2	HP:0000975	Hyperhidrosis
477	ATP1A2	HP:0011675	Arrhythmia
477	ATP1A2	HP:0000297	Facial hypotonia
477	ATP1A2	HP:0005135	Abnormal T-wave
477	ATP1A2	HP:0012229	CSF pleocytosis
477	ATP1A2	HP:0032649	Skewfoot
477	ATP1A2	HP:0000252	Microcephaly
477	ATP1A2	HP:0001561	Polyhydramnios
477	ATP1A2	HP:0001558	Decreased fetal movement
477	ATP1A2	HP:0001522	Death in infancy
477	ATP1A2	HP:0001508	Failure to thrive
477	ATP1A2	HP:0002835	Aspiration
477	ATP1A2	HP:0032867	Refractory status epilepticus
477	ATP1A2	HP:0002922	Increased CSF protein concentration
477	ATP1A2	HP:0000365	Hearing impairment
477	ATP1A2	HP:0000360	Tinnitus
477	ATP1A2	HP:0011024	Abnormality of the gastrointestinal tract
477	ATP1A2	HP:0012332	Abnormal autonomic nervous system physiology
477	ATP1A2	HP:0000348	High forehead
477	ATP1A2	HP:0001638	Cardiomyopathy
477	ATP1A2	HP:0011196	EEG with focal sharp waves
477	ATP1A2	HP:0011199	EEG with generalized sharp slow waves
477	ATP1A2	HP:0011172	Complex febrile seizure
477	ATP1A2	HP:0011157	Focal sensory seizure
477	ATP1A2	HP:0011153	Focal motor seizure
477	ATP1A2	HP:0007979	Gaze-evoked horizontal nystagmus
477	ATP1A2	HP:0031546	Cardiac conduction abnormality
477	ATP1A2	HP:0000494	Downslanted palpebral fissures
477	ATP1A2	HP:0012444	Brain atrophy
477	ATP1A2	HP:0012447	Abnormal myelination
477	ATP1A2	HP:0005484	Secondary microcephaly
477	ATP1A2	HP:0012508	Metamorphopsia
477	ATP1A2	HP:0000508	Ptosis
477	ATP1A2	HP:0000504	Abnormality of vision
477	ATP1A2	HP:0000575	Scotoma
477	ATP1A2	HP:0000577	Exotropia
477	ATP1A2	HP:0012547	Abnormal involuntary eye movements
477	ATP1A2	HP:0000565	Esotropia
477	ATP1A2	HP:0000546	Retinal degeneration
478	ATP1A3	HP:0002483	Bulbar signs
478	ATP1A3	HP:0002451	Limb dystonia
478	ATP1A3	HP:0002445	Tetraplegia
478	ATP1A3	HP:0007256	Abnormal pyramidal sign
478	ATP1A3	HP:0002421	Poor head control
478	ATP1A3	HP:0001298	Encephalopathy
478	ATP1A3	HP:0001290	Generalized hypotonia
478	ATP1A3	HP:0001272	Cerebellar atrophy
478	ATP1A3	HP:0001273	Abnormal corpus callosum morphology
478	ATP1A3	HP:0001270	Motor delay
478	ATP1A3	HP:0001269	Hemiparesis
478	ATP1A3	HP:0001268	Mental deterioration
478	ATP1A3	HP:0001284	Areflexia
478	ATP1A3	HP:0001250	Seizure
478	ATP1A3	HP:0001252	Hypotonia
478	ATP1A3	HP:0001251	Ataxia
478	ATP1A3	HP:0002579	Gastrointestinal dysmotility
478	ATP1A3	HP:0001249	Intellectual disability
478	ATP1A3	HP:0001265	Hyporeflexia
478	ATP1A3	HP:0001266	Choreoathetosis
478	ATP1A3	HP:0001260	Dysarthria
478	ATP1A3	HP:0001263	Global developmental delay
478	ATP1A3	HP:0001257	Spasticity
478	ATP1A3	HP:0410263	Brain imaging abnormality
478	ATP1A3	HP:0007366	Atrophy/Degeneration affecting the brainstem
478	ATP1A3	HP:0007359	Focal-onset seizure
478	ATP1A3	HP:0002521	Hypsarrhythmia
478	ATP1A3	HP:0003829	Typified by incomplete penetrance
478	ATP1A3	HP:0002509	Limb hypertonia
478	ATP1A3	HP:0001385	Hip dysplasia
478	ATP1A3	HP:0001347	Hyperreflexia
478	ATP1A3	HP:0031165	Multifocal seizures
478	ATP1A3	HP:0001332	Dystonia
478	ATP1A3	HP:0033725	Thin corpus callosum
478	ATP1A3	HP:0001324	Muscle weakness
478	ATP1A3	HP:0000012	Urinary urgency
478	ATP1A3	HP:0001337	Tremor
478	ATP1A3	HP:0000006	Autosomal dominant inheritance
478	ATP1A3	HP:0001336	Myoclonus
478	ATP1A3	HP:0001310	Dysmetria
478	ATP1A3	HP:0001315	Reduced tendon reflexes
478	ATP1A3	HP:0001300	Parkinsonism
478	ATP1A3	HP:0012194	Episodic hemiplegia
478	ATP1A3	HP:0012179	Craniofacial dystonia
478	ATP1A3	HP:0025430	High-pitched cry
478	ATP1A3	HP:0031284	Flushing
478	ATP1A3	HP:0002714	Downturned corners of mouth
478	ATP1A3	HP:0002020	Gastroesophageal reflux
478	ATP1A3	HP:0002019	Constipation
478	ATP1A3	HP:0002014	Diarrhea
478	ATP1A3	HP:0002015	Dysphagia
478	ATP1A3	HP:0002013	Vomiting
478	ATP1A3	HP:0100543	Cognitive impairment
478	ATP1A3	HP:0002098	Respiratory distress
478	ATP1A3	HP:0002069	Bilateral tonic-clonic seizure
478	ATP1A3	HP:0002067	Bradykinesia
478	ATP1A3	HP:0002066	Gait ataxia
478	ATP1A3	HP:0002063	Rigidity
478	ATP1A3	HP:0002078	Truncal ataxia
478	ATP1A3	HP:0002072	Chorea
478	ATP1A3	HP:0002039	Anorexia
478	ATP1A3	HP:0002059	Cerebral atrophy
478	ATP1A3	HP:0003477	Peripheral axonal neuropathy
478	ATP1A3	HP:0002121	Generalized non-motor (absence) seizure
478	ATP1A3	HP:0002119	Ventriculomegaly
478	ATP1A3	HP:0002133	Status epilepticus
478	ATP1A3	HP:0002131	Episodic ataxia
478	ATP1A3	HP:0002104	Apnea
478	ATP1A3	HP:0002188	Delayed CNS myelination
478	ATP1A3	HP:0002172	Postural instability
478	ATP1A3	HP:0002263	Exaggerated cupid's bow
478	ATP1A3	HP:0003593	Infantile onset
478	ATP1A3	HP:0002273	Tetraparesis
478	ATP1A3	HP:0003577	Congenital onset
478	ATP1A3	HP:0100710	Impulsivity
478	ATP1A3	HP:0200136	Oral-pharyngeal dysphagia
478	ATP1A3	HP:0007018	Attention deficit hyperactivity disorder
478	ATP1A3	HP:0011968	Feeding difficulties
478	ATP1A3	HP:0020049	Exodeviation
478	ATP1A3	HP:0007074	Thick corpus callosum
478	ATP1A3	HP:0002384	Focal impaired awareness seizure
478	ATP1A3	HP:0002376	Developmental regression
478	ATP1A3	HP:0002344	Progressive neurologic deterioration
478	ATP1A3	HP:0002355	Difficulty walking
478	ATP1A3	HP:0002353	EEG abnormality
478	ATP1A3	HP:0002322	Resting tremor
478	ATP1A3	HP:0002317	Unsteady gait
478	ATP1A3	HP:0002315	Headache
478	ATP1A3	HP:0010841	Multifocal epileptiform discharges
478	ATP1A3	HP:0010844	EEG with multifocal slow activity
478	ATP1A3	HP:0025097	Eyelid myoclonus
478	ATP1A3	HP:0100660	Dyskinesia
478	ATP1A3	HP:0200072	Episodic quadriplegia
478	ATP1A3	HP:0007166	Paroxysmal dyskinesia
478	ATP1A3	HP:0002300	Mutism
478	ATP1A3	HP:0002301	Hemiplegia
478	ATP1A3	HP:0003623	Neonatal onset
478	ATP1A3	HP:0002311	Incoordination
478	ATP1A3	HP:0002307	Drooling
478	ATP1A3	HP:0003621	Juvenile onset
478	ATP1A3	HP:0006852	Episodic generalized hypotonia
478	ATP1A3	HP:0006813	Focal hemiclonic seizure
478	ATP1A3	HP:0006892	Frontotemporal cerebral atrophy
478	ATP1A3	HP:0000639	Nystagmus
478	ATP1A3	HP:0000648	Optic atrophy
478	ATP1A3	HP:0000618	Blindness
478	ATP1A3	HP:0001944	Dehydration
478	ATP1A3	HP:0012650	Perisylvian polymicrogyria
478	ATP1A3	HP:0000657	Oculomotor apraxia
478	ATP1A3	HP:0000668	Hypodontia
478	ATP1A3	HP:0004322	Short stature
478	ATP1A3	HP:0031960	Arm dystonia
478	ATP1A3	HP:0004305	Involuntary movements
478	ATP1A3	HP:0004372	Reduced consciousness/confusion
478	ATP1A3	HP:0031931	Ocular flutter
478	ATP1A3	HP:0000739	Anxiety
478	ATP1A3	HP:0000750	Delayed speech and language development
478	ATP1A3	HP:0000716	Depression
478	ATP1A3	HP:0000718	Aggressive behavior
478	ATP1A3	HP:0000717	Autism
478	ATP1A3	HP:0000712	Emotional lability
478	ATP1A3	HP:0000729	Autistic behavior
478	ATP1A3	HP:0000708	Atypical behavior
478	ATP1A3	HP:0011499	Mydriasis
478	ATP1A3	HP:0011463	Childhood onset
478	ATP1A3	HP:0011462	Young adult onset
478	ATP1A3	HP:0011443	Abnormality of coordination
478	ATP1A3	HP:0012758	Neurodevelopmental delay
478	ATP1A3	HP:0003270	Abdominal distention
478	ATP1A3	HP:0045074	Thin eyebrow
478	ATP1A3	HP:0000980	Pallor
478	ATP1A3	HP:0000975	Hyperhidrosis
478	ATP1A3	HP:0011675	Arrhythmia
478	ATP1A3	HP:0000297	Facial hypotonia
478	ATP1A3	HP:0005135	Abnormal T-wave
478	ATP1A3	HP:0032649	Skewfoot
478	ATP1A3	HP:0000252	Microcephaly
478	ATP1A3	HP:0025517	Hypoplastic hippocampus
478	ATP1A3	HP:0001558	Decreased fetal movement
478	ATP1A3	HP:0002871	Central apnea
478	ATP1A3	HP:0001508	Failure to thrive
478	ATP1A3	HP:0002835	Aspiration
478	ATP1A3	HP:0011097	Epileptic spasm
478	ATP1A3	HP:0000365	Hearing impairment
478	ATP1A3	HP:0011024	Abnormality of the gastrointestinal tract
478	ATP1A3	HP:0012332	Abnormal autonomic nervous system physiology
478	ATP1A3	HP:0000338	Hypomimic face
478	ATP1A3	HP:0032792	Tonic seizure
478	ATP1A3	HP:0000348	High forehead
478	ATP1A3	HP:0001638	Cardiomyopathy
478	ATP1A3	HP:0007965	Undetectable visual evoked potentials
478	ATP1A3	HP:0011153	Focal motor seizure
478	ATP1A3	HP:0000408	Progressive sensorineural hearing impairment
478	ATP1A3	HP:0000407	Sensorineural hearing impairment
478	ATP1A3	HP:0001716	Wolff-Parkinson-White syndrome
478	ATP1A3	HP:0031546	Cardiac conduction abnormality
478	ATP1A3	HP:0000494	Downslanted palpebral fissures
478	ATP1A3	HP:0000496	Abnormality of eye movement
478	ATP1A3	HP:0012444	Brain atrophy
478	ATP1A3	HP:0012447	Abnormal myelination
478	ATP1A3	HP:0000473	Torticollis
478	ATP1A3	HP:0001761	Pes cavus
478	ATP1A3	HP:0000529	Progressive visual loss
478	ATP1A3	HP:0000508	Ptosis
478	ATP1A3	HP:0000505	Visual impairment
478	ATP1A3	HP:0000504	Abnormality of vision
478	ATP1A3	HP:0000577	Exotropia
478	ATP1A3	HP:0012547	Abnormal involuntary eye movements
478	ATP1A3	HP:0000572	Visual loss
478	ATP1A3	HP:0000565	Esotropia
478	ATP1A3	HP:0000546	Retinal degeneration
481	ATP1B1	HP:0001426	Multifactorial inheritance
481	ATP1B1	HP:0004972	Elevated mean arterial pressure
481	ATP1B1	HP:0004421	Elevated systolic blood pressure
481	ATP1B1	HP:0005117	Elevated diastolic blood pressure
486	FXYD2	HP:0001250	Seizure
486	FXYD2	HP:0000083	Renal insufficiency
486	FXYD2	HP:0000006	Autosomal dominant inheritance
486	FXYD2	HP:0003324	Generalized muscle weakness
486	FXYD2	HP:0005567	Renal magnesium wasting
486	FXYD2	HP:0003127	Hypocalciuria
486	FXYD2	HP:0000934	Chondrocalcinosis
486	FXYD2	HP:0002917	Hypomagnesemia
486	FXYD2	HP:0002900	Hypokalemia
487	ATP2A1	HP:0002486	Myotonia
487	ATP2A1	HP:0002411	Myokymia
487	ATP2A1	HP:0003712	Skeletal muscle hypertrophy
487	ATP2A1	HP:0003710	Exercise-induced muscle cramps
487	ATP2A1	HP:0001270	Motor delay
487	ATP2A1	HP:0001371	Flexion contracture
487	ATP2A1	HP:0001324	Muscle weakness
487	ATP2A1	HP:0000007	Autosomal recessive inheritance
487	ATP2A1	HP:0008967	Exercise-induced muscle stiffness
487	ATP2A1	HP:0003326	Myalgia
487	ATP2A1	HP:0002047	Malignant hyperthermia
487	ATP2A1	HP:0003474	Somatic sensory dysfunction
487	ATP2A1	HP:0010548	Percussion myotonia
487	ATP2A1	HP:0002380	Fasciculations
487	ATP2A1	HP:0003623	Neonatal onset
487	ATP2A1	HP:0031826	Abnormal reflex
487	ATP2A1	HP:0009046	Difficulty running
487	ATP2A1	HP:0011463	Childhood onset
487	ATP2A1	HP:0100284	EMG: myotonic discharges
488	ATP2A2	HP:0025114	Hypergranulosis
488	ATP2A2	HP:0007302	Bipolar affective disorder
488	ATP2A2	HP:0001256	Intellectual disability, mild
488	ATP2A2	HP:0001250	Seizure
488	ATP2A2	HP:0007530	Punctate palmoplantar hyperkeratosis
488	ATP2A2	HP:0000006	Autosomal dominant inheritance
488	ATP2A2	HP:0011801	Enlargement of parotid gland
488	ATP2A2	HP:0003577	Congenital onset
488	ATP2A2	HP:0008410	Subungual hyperkeratotic fragments
488	ATP2A2	HP:0008404	Nail dystrophy
488	ATP2A2	HP:0100792	Acantholysis
488	ATP2A2	HP:0100753	Schizophrenia
488	ATP2A2	HP:0010610	Palmar pits
488	ATP2A2	HP:0010612	Plantar pits
488	ATP2A2	HP:0001034	Hypermelanotic macule
488	ATP2A2	HP:0001036	Parakeratosis
488	ATP2A2	HP:0001000	Abnormality of skin pigmentation
488	ATP2A2	HP:0200016	Acrokeratosis
488	ATP2A2	HP:0025092	Epidermal acanthosis
488	ATP2A2	HP:0200037	Skin vesicle
488	ATP2A2	HP:0200035	Skin plaque
488	ATP2A2	HP:0001072	Thickened skin
488	ATP2A2	HP:0200043	Verrucae
488	ATP2A2	HP:0012733	Macule
488	ATP2A2	HP:0000989	Pruritus
488	ATP2A2	HP:0000982	Palmoplantar keratoderma
488	ATP2A2	HP:0000962	Hyperkeratosis
488	ATP2A2	HP:0001595	Abnormal hair morphology
488	ATP2A2	HP:0001597	Abnormality of the nail
488	ATP2A2	HP:0025512	Skin-colored papule
488	ATP2A2	HP:0005212	Anal mucosal leukoplakia
488	ATP2A2	HP:0001798	Anonychia
488	ATP2A2	HP:0012500	Verrucous papule
488	ATP2A2	HP:0001820	Leukonychia
488	ATP2A2	HP:0001807	Ridged nail
490	ATP2B1	HP:0001166	Arachnodactyly
490	ATP2B1	HP:0033522	Cerebral cavernous malformation
490	ATP2B1	HP:0001250	Seizure
490	ATP2B1	HP:0001252	Hypotonia
490	ATP2B1	HP:0001249	Intellectual disability
490	ATP2B1	HP:0001263	Global developmental delay
490	ATP2B1	HP:0001357	Plagiocephaly
490	ATP2B1	HP:0000006	Autosomal dominant inheritance
490	ATP2B1	HP:0002650	Scoliosis
490	ATP2B1	HP:0002616	Aortic root aneurysm
490	ATP2B1	HP:0003593	Infantile onset
490	ATP2B1	HP:0003577	Congenital onset
490	ATP2B1	HP:0004209	Clinodactyly of the 5th finger
490	ATP2B1	HP:0000767	Pectus excavatum
490	ATP2B1	HP:0000768	Pectus carinatum
490	ATP2B1	HP:0000729	Autistic behavior
490	ATP2B1	HP:0011463	Childhood onset
490	ATP2B1	HP:0008070	Sparse hair
490	ATP2B1	HP:0000248	Brachycephaly
490	ATP2B1	HP:0000369	Low-set ears
490	ATP2B1	HP:0001669	Transposition of the great arteries
490	ATP2B1	HP:0001684	Secundum atrial septal defect
490	ATP2B1	HP:0012469	Infantile spasms
490	ATP2B1	HP:0001863	Toe clinodactyly
491	ATP2B2	HP:0000007	Autosomal recessive inheritance
491	ATP2B2	HP:0000006	Autosomal dominant inheritance
491	ATP2B2	HP:0003596	Middle age onset
491	ATP2B2	HP:0003577	Congenital onset
491	ATP2B2	HP:0003621	Juvenile onset
491	ATP2B2	HP:0011463	Childhood onset
491	ATP2B2	HP:0000399	Prelingual sensorineural hearing impairment
491	ATP2B2	HP:0000360	Tinnitus
491	ATP2B2	HP:0000407	Sensorineural hearing impairment
491	ATP2B2	HP:0001751	Abnormal vestibular function
491	ATP2B2	HP:0000510	Rod-cone dystrophy
492	ATP2B3	HP:0001152	Saccadic smooth pursuit
492	ATP2B3	HP:0002464	Spastic dysarthria
492	ATP2B3	HP:0002470	Nonprogressive cerebellar ataxia
492	ATP2B3	HP:0001272	Cerebellar atrophy
492	ATP2B3	HP:0001270	Motor delay
492	ATP2B3	HP:0001252	Hypotonia
492	ATP2B3	HP:0001251	Ataxia
492	ATP2B3	HP:0001249	Intellectual disability
492	ATP2B3	HP:0001260	Dysarthria
492	ATP2B3	HP:0001320	Cerebellar vermis hypoplasia
492	ATP2B3	HP:0001321	Cerebellar hypoplasia
492	ATP2B3	HP:0001319	Neonatal hypotonia
492	ATP2B3	HP:0008935	Generalized neonatal hypotonia
492	ATP2B3	HP:0001419	X-linked recessive inheritance
492	ATP2B3	HP:0002015	Dysphagia
492	ATP2B3	HP:0002080	Intention tremor
492	ATP2B3	HP:0002078	Truncal ataxia
492	ATP2B3	HP:0002071	Abnormality of extrapyramidal motor function
492	ATP2B3	HP:0003487	Babinski sign
492	ATP2B3	HP:0003593	Infantile onset
492	ATP2B3	HP:0003577	Congenital onset
492	ATP2B3	HP:0003698	Difficulty standing
492	ATP2B3	HP:0002359	Frequent falls
492	ATP2B3	HP:0002345	Action tremor
492	ATP2B3	HP:0003680	Nonprogressive
492	ATP2B3	HP:0002317	Unsteady gait
492	ATP2B3	HP:0002312	Clumsiness
492	ATP2B3	HP:0003621	Juvenile onset
492	ATP2B3	HP:0000639	Nystagmus
492	ATP2B3	HP:0000486	Strabismus
492	ATP2B3	HP:0000514	Slow saccadic eye movements
498	ATP5F1A	HP:0001298	Encephalopathy
498	ATP5F1A	HP:0001250	Seizure
498	ATP5F1A	HP:0001252	Hypotonia
498	ATP5F1A	HP:0003811	Neonatal death
498	ATP5F1A	HP:0000007	Autosomal recessive inheritance
498	ATP5F1A	HP:0001321	Cerebellar hypoplasia
498	ATP5F1A	HP:0025430	High-pitched cry
498	ATP5F1A	HP:0003348	Hyperalaninemia
498	ATP5F1A	HP:0002089	Pulmonary hypoplasia
498	ATP5F1A	HP:0002092	Pulmonary arterial hypertension
498	ATP5F1A	HP:0002104	Apnea
498	ATP5F1A	HP:0011924	Decreased activity of mitochondrial complex III
498	ATP5F1A	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
498	ATP5F1A	HP:0011923	Decreased activity of mitochondrial complex I
498	ATP5F1A	HP:0003577	Congenital onset
498	ATP5F1A	HP:0003535	3-Methylglutaconic aciduria
498	ATP5F1A	HP:0008347	Decreased activity of mitochondrial complex IV
498	ATP5F1A	HP:0000639	Nystagmus
498	ATP5F1A	HP:0000737	Irritability
498	ATP5F1A	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
498	ATP5F1A	HP:0000252	Microcephaly
498	ATP5F1A	HP:0001508	Failure to thrive
498	ATP5F1A	HP:0001511	Intrauterine growth retardation
498	ATP5F1A	HP:0001635	Congestive heart failure
501	ALDH7A1	HP:0025116	Fetal distress
501	ALDH7A1	HP:0020221	Clonic seizure
501	ALDH7A1	HP:0020217	Focal aware motor seizure
501	ALDH7A1	HP:0010851	EEG with burst suppression
501	ALDH7A1	HP:0001250	Seizure
501	ALDH7A1	HP:0001252	Hypotonia
501	ALDH7A1	HP:0001249	Intellectual disability
501	ALDH7A1	HP:0001263	Global developmental delay
501	ALDH7A1	HP:0007359	Focal-onset seizure
501	ALDH7A1	HP:0002521	Hypsarrhythmia
501	ALDH7A1	HP:0000007	Autosomal recessive inheritance
501	ALDH7A1	HP:0002643	Neonatal respiratory distress
501	ALDH7A1	HP:0030917	Low APGAR score
501	ALDH7A1	HP:0002069	Bilateral tonic-clonic seizure
501	ALDH7A1	HP:0002079	Hypoplasia of the corpus callosum
501	ALDH7A1	HP:0002123	Generalized myoclonic seizure
501	ALDH7A1	HP:0002119	Ventriculomegaly
501	ALDH7A1	HP:0002133	Status epilepticus
501	ALDH7A1	HP:0002188	Delayed CNS myelination
501	ALDH7A1	HP:0002280	Enlarged cisterna magna
501	ALDH7A1	HP:0011968	Feeding difficulties
501	ALDH7A1	HP:0010841	Multifocal epileptiform discharges
501	ALDH7A1	HP:0010845	EEG with generalized slow activity
501	ALDH7A1	HP:0010819	Atonic seizure
501	ALDH7A1	HP:0003623	Neonatal onset
501	ALDH7A1	HP:0001943	Hypoglycemia
501	ALDH7A1	HP:0000737	Irritability
501	ALDH7A1	HP:0000750	Delayed speech and language development
501	ALDH7A1	HP:0012704	Widened subarachnoid space
501	ALDH7A1	HP:0000711	Restlessness
501	ALDH7A1	HP:0012768	Neonatal asphyxia
501	ALDH7A1	HP:0012758	Neurodevelopmental delay
501	ALDH7A1	HP:0003128	Lactic acidosis
501	ALDH7A1	HP:0034365	Elevated circulating alpha-aminoadipic semialdehyde concentration
501	ALDH7A1	HP:0000273	Facial grimacing
501	ALDH7A1	HP:0000238	Hydrocephalus
501	ALDH7A1	HP:0001557	Prenatal movement abnormality
501	ALDH7A1	HP:0011097	Epileptic spasm
501	ALDH7A1	HP:0011199	EEG with generalized sharp slow waves
501	ALDH7A1	HP:0011198	EEG with generalized epileptiform discharges
501	ALDH7A1	HP:0011166	Focal myoclonic seizure
501	ALDH7A1	HP:0011152	Early onset absence seizures
501	ALDH7A1	HP:0000486	Strabismus
501	ALDH7A1	HP:0000496	Abnormality of eye movement
501	ALDH7A1	HP:0012444	Brain atrophy
501	ALDH7A1	HP:0012420	Meconium stained amniotic fluid
506	ATP5F1B	HP:0010913	Hyperisoleucinemia
506	ATP5F1B	HP:0010911	Hyperleucinemia
506	ATP5F1B	HP:0010910	Hypervalinemia
506	ATP5F1B	HP:0002591	Polyphagia
506	ATP5F1B	HP:0000006	Autosomal dominant inheritance
506	ATP5F1B	HP:0002789	Tachypnea
506	ATP5F1B	HP:0003593	Infantile onset
506	ATP5F1B	HP:0001954	Recurrent fever
506	ATP5F1B	HP:0011342	Mild global developmental delay
506	ATP5F1B	HP:0001987	Hyperammonemia
506	ATP5F1B	HP:0004325	Decreased body weight
506	ATP5F1B	HP:0003138	Increased blood urea nitrogen
506	ATP5F1B	HP:0001508	Failure to thrive
513	ATP5F1D	HP:0001298	Encephalopathy
513	ATP5F1D	HP:0001254	Lethargy
513	ATP5F1D	HP:0001263	Global developmental delay
513	ATP5F1D	HP:0001324	Muscle weakness
513	ATP5F1D	HP:0000007	Autosomal recessive inheritance
513	ATP5F1D	HP:0002069	Bilateral tonic-clonic seizure
513	ATP5F1D	HP:0002141	Gait imbalance
513	ATP5F1D	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
513	ATP5F1D	HP:0003546	Exercise intolerance
513	ATP5F1D	HP:0003535	3-Methylglutaconic aciduria
513	ATP5F1D	HP:0003623	Neonatal onset
513	ATP5F1D	HP:0001943	Hypoglycemia
513	ATP5F1D	HP:0001993	Ketoacidosis
513	ATP5F1D	HP:0001987	Hyperammonemia
513	ATP5F1D	HP:0004322	Short stature
513	ATP5F1D	HP:0031962	Elevated serum anion gap
513	ATP5F1D	HP:0000750	Delayed speech and language development
513	ATP5F1D	HP:0011463	Childhood onset
513	ATP5F1D	HP:0003128	Lactic acidosis
513	ATP5F1D	HP:0003236	Elevated circulating creatine kinase concentration
513	ATP5F1D	HP:0003201	Rhabdomyolysis
513	ATP5F1D	HP:0006466	Ankle flexion contracture
513	ATP5F1D	HP:0001644	Dilated cardiomyopathy
514	ATP5F1E	HP:0001249	Intellectual disability
514	ATP5F1E	HP:0000007	Autosomal recessive inheritance
514	ATP5F1E	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
514	ATP5F1E	HP:0003535	3-Methylglutaconic aciduria
514	ATP5F1E	HP:0009830	Peripheral neuropathy
514	ATP5F1E	HP:0003128	Lactic acidosis
514	ATP5F1E	HP:0001639	Hypertrophic cardiomyopathy
518	ATP5MC3	HP:0001258	Spastic paraplegia
518	ATP5MC3	HP:0007340	Lower limb muscle weakness
518	ATP5MC3	HP:0012049	Laryngeal dystonia
518	ATP5MC3	HP:0001347	Hyperreflexia
518	ATP5MC3	HP:0001332	Dystonia
518	ATP5MC3	HP:0000006	Autosomal dominant inheritance
518	ATP5MC3	HP:0003581	Adult onset
518	ATP5MC3	HP:0002355	Difficulty walking
518	ATP5MC3	HP:0011463	Childhood onset
523	ATP6V1A	HP:0002465	Poor speech
523	ATP6V1A	HP:0010954	Hypoplastic right heart
523	ATP6V1A	HP:0009933	Narrow naris
523	ATP6V1A	HP:0025167	Fragmented elastic fibers in the dermis
523	ATP6V1A	HP:0002421	Poor head control
523	ATP6V1A	HP:0003758	Reduced subcutaneous adipose tissue
523	ATP6V1A	HP:0001298	Encephalopathy
523	ATP6V1A	HP:0001290	Generalized hypotonia
523	ATP6V1A	HP:0001272	Cerebellar atrophy
523	ATP6V1A	HP:0025244	Subretinal pigment epithelium hemorrhage
523	ATP6V1A	HP:0001273	Abnormal corpus callosum morphology
523	ATP6V1A	HP:0001270	Motor delay
523	ATP6V1A	HP:0001268	Mental deterioration
523	ATP6V1A	HP:0001288	Gait disturbance
523	ATP6V1A	HP:0001285	Spastic tetraparesis
523	ATP6V1A	HP:0001250	Seizure
523	ATP6V1A	HP:0001251	Ataxia
523	ATP6V1A	HP:0001249	Intellectual disability
523	ATP6V1A	HP:0001265	Hyporeflexia
523	ATP6V1A	HP:0001263	Global developmental delay
523	ATP6V1A	HP:0001257	Spasticity
523	ATP6V1A	HP:0025201	Abnormal circulating apolipoprotein concentration
523	ATP6V1A	HP:0100874	Thick hair
523	ATP6V1A	HP:0007392	Excessive wrinkled skin
523	ATP6V1A	HP:0008689	Bilateral cryptorchidism
523	ATP6V1A	HP:0010989	Abnormality of the intrinsic pathway
523	ATP6V1A	HP:0002540	Inability to walk
523	ATP6V1A	HP:0002521	Hypsarrhythmia
523	ATP6V1A	HP:0003828	Variable expressivity
523	ATP6V1A	HP:0002509	Limb hypertonia
523	ATP6V1A	HP:0001374	Congenital hip dislocation
523	ATP6V1A	HP:0000054	Micropenis
523	ATP6V1A	HP:0001385	Hip dysplasia
523	ATP6V1A	HP:0000023	Inguinal hernia
523	ATP6V1A	HP:0001347	Hyperreflexia
523	ATP6V1A	HP:0008897	Postnatal growth retardation
523	ATP6V1A	HP:0007552	Abnormal subcutaneous fat tissue distribution
523	ATP6V1A	HP:0007457	Prominent veins on trunk
523	ATP6V1A	HP:0001344	Absent speech
523	ATP6V1A	HP:0001339	Lissencephaly
523	ATP6V1A	HP:0000007	Autosomal recessive inheritance
523	ATP6V1A	HP:0001337	Tremor
523	ATP6V1A	HP:0000006	Autosomal dominant inheritance
523	ATP6V1A	HP:0001336	Myoclonus
523	ATP6V1A	HP:0001305	Dandy-Walker malformation
523	ATP6V1A	HP:0001302	Pachygyria
523	ATP6V1A	HP:0001321	Cerebellar hypoplasia
523	ATP6V1A	HP:0001315	Reduced tendon reflexes
523	ATP6V1A	HP:0001476	Delayed closure of the anterior fontanelle
523	ATP6V1A	HP:0008947	Infantile muscular hypotonia
523	ATP6V1A	HP:0002761	Generalized joint laxity
523	ATP6V1A	HP:0002751	Kyphoscoliosis
523	ATP6V1A	HP:0002020	Gastroesophageal reflux
523	ATP6V1A	HP:0005989	Redundant neck skin
523	ATP6V1A	HP:0002097	Emphysema
523	ATP6V1A	HP:0002063	Rigidity
523	ATP6V1A	HP:0002079	Hypoplasia of the corpus callosum
523	ATP6V1A	HP:0002059	Cerebral atrophy
523	ATP6V1A	HP:0011712	Right bundle branch block
523	ATP6V1A	HP:0002133	Status epilepticus
523	ATP6V1A	HP:0002126	Polymicrogyria
523	ATP6V1A	HP:0003429	CNS hypomyelination
523	ATP6V1A	HP:0002107	Pneumothorax
523	ATP6V1A	HP:0002187	Intellectual disability, profound
523	ATP6V1A	HP:0002171	Gliosis
523	ATP6V1A	HP:0100710	Impulsivity
523	ATP6V1A	HP:0002208	Coarse hair
523	ATP6V1A	HP:0200134	Epileptic encephalopathy
523	ATP6V1A	HP:0007018	Attention deficit hyperactivity disorder
523	ATP6V1A	HP:0011968	Feeding difficulties
523	ATP6V1A	HP:0002361	Psychomotor deterioration
523	ATP6V1A	HP:0002376	Developmental regression
523	ATP6V1A	HP:0002355	Difficulty walking
523	ATP6V1A	HP:0002317	Unsteady gait
523	ATP6V1A	HP:0010844	EEG with multifocal slow activity
523	ATP6V1A	HP:0100660	Dyskinesia
523	ATP6V1A	HP:0004970	Ascending tubular aorta aneurysm
523	ATP6V1A	HP:0006891	Thick cerebral cortex
523	ATP6V1A	HP:0000639	Nystagmus
523	ATP6V1A	HP:0000648	Optic atrophy
523	ATP6V1A	HP:0000612	Iris coloboma
523	ATP6V1A	HP:0000621	Entropion
523	ATP6V1A	HP:0000670	Carious teeth
523	ATP6V1A	HP:0000668	Hypodontia
523	ATP6V1A	HP:0004322	Short stature
523	ATP6V1A	HP:0004305	Involuntary movements
523	ATP6V1A	HP:0031936	Delayed ability to walk
523	ATP6V1A	HP:0000750	Delayed speech and language development
523	ATP6V1A	HP:0000717	Autism
523	ATP6V1A	HP:0000726	Dementia
523	ATP6V1A	HP:0000708	Atypical behavior
523	ATP6V1A	HP:0011443	Abnormality of coordination
523	ATP6V1A	HP:0009125	Lipodystrophy
523	ATP6V1A	HP:0003199	Decreased muscle mass
523	ATP6V1A	HP:0003196	Short nose
523	ATP6V1A	HP:0003160	Abnormal isoelectric focusing of serum transferrin
523	ATP6V1A	HP:0034392	Joint contracture
523	ATP6V1A	HP:0000973	Cutis laxa
523	ATP6V1A	HP:0008070	Sparse hair
523	ATP6V1A	HP:0000278	Retrognathia
523	ATP6V1A	HP:0000298	Mask-like facies
523	ATP6V1A	HP:0000272	Malar flattening
523	ATP6V1A	HP:0002827	Hip dislocation
523	ATP6V1A	HP:0000253	Progressive microcephaly
523	ATP6V1A	HP:0000252	Microcephaly
523	ATP6V1A	HP:0001582	Redundant skin
523	ATP6V1A	HP:0000218	High palate
523	ATP6V1A	HP:0001558	Decreased fetal movement
523	ATP6V1A	HP:0001508	Failure to thrive
523	ATP6V1A	HP:0001519	Disproportionate tall stature
523	ATP6V1A	HP:0001511	Intrauterine growth retardation
523	ATP6V1A	HP:0012385	Camptodactyly
523	ATP6V1A	HP:0011003	High myopia
523	ATP6V1A	HP:0000369	Low-set ears
523	ATP6V1A	HP:0000343	Long philtrum
523	ATP6V1A	HP:0000348	High forehead
523	ATP6V1A	HP:0000319	Smooth philtrum
523	ATP6V1A	HP:0000316	Hypertelorism
523	ATP6V1A	HP:0000325	Triangular face
523	ATP6V1A	HP:0001639	Hypertrophic cardiomyopathy
523	ATP6V1A	HP:0001635	Congestive heart failure
523	ATP6V1A	HP:0000307	Pointed chin
523	ATP6V1A	HP:0001631	Atrial septal defect
523	ATP6V1A	HP:0000400	Macrotia
523	ATP6V1A	HP:0005272	Prominent nasolabial fold
523	ATP6V1A	HP:0000486	Strabismus
523	ATP6V1A	HP:0000494	Downslanted palpebral fissures
523	ATP6V1A	HP:0000463	Anteverted nares
523	ATP6V1A	HP:0012444	Brain atrophy
523	ATP6V1A	HP:0012447	Abnormal myelination
523	ATP6V1A	HP:0000455	Broad nasal tip
523	ATP6V1A	HP:0000414	Bulbous nose
523	ATP6V1A	HP:0000411	Protruding ear
523	ATP6V1A	HP:0001762	Talipes equinovarus
523	ATP6V1A	HP:0000431	Wide nasal bridge
523	ATP6V1A	HP:0000518	Cataract
523	ATP6V1A	HP:0000508	Ptosis
523	ATP6V1A	HP:0000504	Abnormality of vision
523	ATP6V1A	HP:0000581	Blepharophimosis
523	ATP6V1A	HP:0012547	Abnormal involuntary eye movements
523	ATP6V1A	HP:0000540	Hypermetropia
523	ATP6V1A	HP:0000546	Retinal degeneration
525	ATP6V1B1	HP:0000007	Autosomal recessive inheritance
525	ATP6V1B1	HP:0001947	Renal tubular acidosis
525	ATP6V1B1	HP:0000787	Nephrolithiasis
525	ATP6V1B1	HP:0000407	Sensorineural hearing impairment
526	ATP6V1B2	HP:0001156	Brachydactyly
526	ATP6V1B2	HP:0001167	Abnormal finger morphology
526	ATP6V1B2	HP:0002465	Poor speech
526	ATP6V1B2	HP:0008619	Bilateral sensorineural hearing impairment
526	ATP6V1B2	HP:0008625	Severe sensorineural hearing impairment
526	ATP6V1B2	HP:0001199	Triphalangeal thumb
526	ATP6V1B2	HP:0009894	Thickened ears
526	ATP6V1B2	HP:0009882	Short distal phalanx of finger
526	ATP6V1B2	HP:0001290	Generalized hypotonia
526	ATP6V1B2	HP:0001250	Seizure
526	ATP6V1B2	HP:0001252	Hypotonia
526	ATP6V1B2	HP:0001249	Intellectual disability
526	ATP6V1B2	HP:0001265	Hyporeflexia
526	ATP6V1B2	HP:0001263	Global developmental delay
526	ATP6V1B2	HP:0001231	Abnormal fingernail morphology
526	ATP6V1B2	HP:0007440	Generalized hyperpigmentation
526	ATP6V1B2	HP:0000062	Ambiguous genitalia
526	ATP6V1B2	HP:0000079	Abnormality of the urinary system
526	ATP6V1B2	HP:0001382	Joint hypermobility
526	ATP6V1B2	HP:0007529	Hidrotic ectodermal dysplasia
526	ATP6V1B2	HP:0006191	Deep palmar crease
526	ATP6V1B2	HP:0000006	Autosomal dominant inheritance
526	ATP6V1B2	HP:0001336	Myoclonus
526	ATP6V1B2	HP:0001305	Dandy-Walker malformation
526	ATP6V1B2	HP:0000187	Broad alveolar ridges
526	ATP6V1B2	HP:0000189	Narrow palate
526	ATP6V1B2	HP:0000179	Thick lower lip vermilion
526	ATP6V1B2	HP:0000194	Open mouth
526	ATP6V1B2	HP:0000193	Bifid uvula
526	ATP6V1B2	HP:0000164	Abnormality of the dentition
526	ATP6V1B2	HP:0000158	Macroglossia
526	ATP6V1B2	HP:0001488	Bilateral ptosis
526	ATP6V1B2	HP:0000175	Cleft palate
526	ATP6V1B2	HP:0000169	Gingival fibromatosis
526	ATP6V1B2	HP:0000154	Wide mouth
526	ATP6V1B2	HP:0008947	Infantile muscular hypotonia
526	ATP6V1B2	HP:0031282	Malalignment of the great toenail
526	ATP6V1B2	HP:0000121	Nephrocalcinosis
526	ATP6V1B2	HP:0000126	Hydronephrosis
526	ATP6V1B2	HP:0002714	Downturned corners of mouth
526	ATP6V1B2	HP:0002020	Gastroesophageal reflux
526	ATP6V1B2	HP:0002033	Poor suck
526	ATP6V1B2	HP:0002002	Deep philtrum
526	ATP6V1B2	HP:0002007	Frontal bossing
526	ATP6V1B2	HP:0004626	Lumbar scoliosis
526	ATP6V1B2	HP:0002098	Respiratory distress
526	ATP6V1B2	HP:0002069	Bilateral tonic-clonic seizure
526	ATP6V1B2	HP:0008110	Equinovarus deformity
526	ATP6V1B2	HP:0010497	Sirenomelia
526	ATP6V1B2	HP:0002139	Arrhinencephaly
526	ATP6V1B2	HP:0002126	Polymicrogyria
526	ATP6V1B2	HP:0008221	Adrenal hyperplasia
526	ATP6V1B2	HP:0002265	Large fleshy ears
526	ATP6V1B2	HP:0003593	Infantile onset
526	ATP6V1B2	HP:0003577	Congenital onset
526	ATP6V1B2	HP:0002240	Hepatomegaly
526	ATP6V1B2	HP:0002219	Facial hypertrichosis
526	ATP6V1B2	HP:0200104	Absent fifth fingernail
526	ATP6V1B2	HP:0200141	Small, conical teeth
526	ATP6V1B2	HP:0008404	Nail dystrophy
526	ATP6V1B2	HP:0100797	Toenail dysplasia
526	ATP6V1B2	HP:0011968	Feeding difficulties
526	ATP6V1B2	HP:0011951	Aspiration pneumonia
526	ATP6V1B2	HP:0008386	Aplasia/Hypoplasia of the nails
526	ATP6V1B2	HP:0008388	Abnormal toenail morphology
526	ATP6V1B2	HP:0001057	Aplasia cutis congenita
526	ATP6V1B2	HP:0002384	Focal impaired awareness seizure
526	ATP6V1B2	HP:0001007	Hirsutism
526	ATP6V1B2	HP:0002353	EEG abnormality
526	ATP6V1B2	HP:0009830	Peripheral neuropathy
526	ATP6V1B2	HP:0009778	Short thumb
526	ATP6V1B2	HP:0004209	Clinodactyly of the 5th finger
526	ATP6V1B2	HP:0000648	Optic atrophy
526	ATP6V1B2	HP:0000696	Delayed eruption of permanent teeth
526	ATP6V1B2	HP:0000698	Conical tooth
526	ATP6V1B2	HP:0000675	Macrodontia of permanent maxillary central incisor
526	ATP6V1B2	HP:0000677	Oligodontia
526	ATP6V1B2	HP:0011326	Anterior plagiocephaly
526	ATP6V1B2	HP:0000687	Widely spaced teeth
526	ATP6V1B2	HP:0000668	Hypodontia
526	ATP6V1B2	HP:0001999	Abnormal facial shape
526	ATP6V1B2	HP:0000664	Synophrys
526	ATP6V1B2	HP:0004322	Short stature
526	ATP6V1B2	HP:0006934	Congenital nystagmus
526	ATP6V1B2	HP:0030680	Abnormality of cardiovascular system morphology
526	ATP6V1B2	HP:0009102	Anterior open-bite malocclusion
526	ATP6V1B2	HP:0011409	Abnormal placental membrane morphology
526	ATP6V1B2	HP:0012725	Cutaneous syndactyly
526	ATP6V1B2	HP:0000729	Autistic behavior
526	ATP6V1B2	HP:0009162	Absent middle phalanx of 5th finger
526	ATP6V1B2	HP:0004442	Sagittal craniosynostosis
526	ATP6V1B2	HP:0005707	Bilateral triphalangeal thumbs
526	ATP6V1B2	HP:0000878	11 pairs of ribs
526	ATP6V1B2	HP:0000851	Congenital hypothyroidism
526	ATP6V1B2	HP:0012810	Wide nasal base
526	ATP6V1B2	HP:0000811	Abnormal external genitalia
526	ATP6V1B2	HP:0009237	Short 5th finger
526	ATP6V1B2	HP:0004554	Generalized hypertrichosis
526	ATP6V1B2	HP:0003298	Spina bifida occulta
526	ATP6V1B2	HP:0000998	Hypertrichosis
526	ATP6V1B2	HP:0000977	Soft skin
526	ATP6V1B2	HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe
526	ATP6V1B2	HP:0000286	Epicanthus
526	ATP6V1B2	HP:0000280	Coarse facial features
526	ATP6V1B2	HP:0000294	Low anterior hairline
526	ATP6V1B2	HP:0001592	Selective tooth agenesis
526	ATP6V1B2	HP:0000268	Dolichocephaly
526	ATP6V1B2	HP:0000269	Prominent occiput
526	ATP6V1B2	HP:0002808	Kyphosis
526	ATP6V1B2	HP:0006391	Overtubulated long bones
526	ATP6V1B2	HP:0000252	Microcephaly
526	ATP6V1B2	HP:0000248	Brachycephaly
526	ATP6V1B2	HP:0000219	Thin upper lip vermilion
526	ATP6V1B2	HP:0000218	High palate
526	ATP6V1B2	HP:0000212	Gingival overgrowth
526	ATP6V1B2	HP:0001561	Polyhydramnios
526	ATP6V1B2	HP:0000200	Short lingual frenulum
526	ATP6V1B2	HP:0001510	Growth delay
526	ATP6V1B2	HP:0011069	Supernumerary tooth
526	ATP6V1B2	HP:0002937	Hemivertebrae
526	ATP6V1B2	HP:0031423	Small cerebellar cortex
526	ATP6V1B2	HP:0000369	Low-set ears
526	ATP6V1B2	HP:0000343	Long philtrum
526	ATP6V1B2	HP:0000349	Widow's peak
526	ATP6V1B2	HP:0000348	High forehead
526	ATP6V1B2	HP:0000347	Micrognathia
526	ATP6V1B2	HP:0000316	Hypertelorism
526	ATP6V1B2	HP:0005306	Capillary hemangioma
526	ATP6V1B2	HP:0005322	Prominent nasal septum
526	ATP6V1B2	HP:0000407	Sensorineural hearing impairment
526	ATP6V1B2	HP:0001719	Double outlet right ventricle
526	ATP6V1B2	HP:0000486	Strabismus
526	ATP6V1B2	HP:0012471	Thick vermilion border
526	ATP6V1B2	HP:0000494	Downslanted palpebral fissures
526	ATP6V1B2	HP:0001792	Small nail
526	ATP6V1B2	HP:0000463	Anteverted nares
526	ATP6V1B2	HP:0000455	Broad nasal tip
526	ATP6V1B2	HP:0000456	Bifid nasal tip
526	ATP6V1B2	HP:0000474	Thickened nuchal skin fold
526	ATP6V1B2	HP:0000470	Short neck
526	ATP6V1B2	HP:0001798	Anonychia
526	ATP6V1B2	HP:0001770	Toe syndactyly
526	ATP6V1B2	HP:0001763	Pes planus
526	ATP6V1B2	HP:0001780	Abnormal toe morphology
526	ATP6V1B2	HP:0000445	Wide nose
526	ATP6V1B2	HP:0012402	Increased urine alpha-ketoglutarate concentration
526	ATP6V1B2	HP:0000414	Bulbous nose
526	ATP6V1B2	HP:0000413	Atresia of the external auditory canal
526	ATP6V1B2	HP:0001744	Splenomegaly
526	ATP6V1B2	HP:0000431	Wide nasal bridge
526	ATP6V1B2	HP:0000430	Underdeveloped nasal alae
526	ATP6V1B2	HP:0001761	Pes cavus
526	ATP6V1B2	HP:0000518	Cataract
526	ATP6V1B2	HP:0000527	Long eyelashes
526	ATP6V1B2	HP:0001822	Hallux valgus
526	ATP6V1B2	HP:0000506	Telecanthus
526	ATP6V1B2	HP:0001804	Hypoplastic fingernail
526	ATP6V1B2	HP:0001800	Hypoplastic toenails
526	ATP6V1B2	HP:0001802	Absent toenail
526	ATP6V1B2	HP:0001817	Absent fingernail
526	ATP6V1B2	HP:0012554	Absent thumbnail
526	ATP6V1B2	HP:0001894	Thrombocytosis
526	ATP6V1B2	HP:0000574	Thick eyebrow
526	ATP6V1B2	HP:0001869	Deep plantar creases
526	ATP6V1B2	HP:0000545	Myopia
529	ATP6V1E1	HP:0001188	Hand clenching
529	ATP6V1E1	HP:0002465	Poor speech
529	ATP6V1E1	HP:0009933	Narrow naris
529	ATP6V1E1	HP:0025167	Fragmented elastic fibers in the dermis
529	ATP6V1E1	HP:0003758	Reduced subcutaneous adipose tissue
529	ATP6V1E1	HP:0001290	Generalized hypotonia
529	ATP6V1E1	HP:0025244	Subretinal pigment epithelium hemorrhage
529	ATP6V1E1	HP:0001270	Motor delay
529	ATP6V1E1	HP:0001250	Seizure
529	ATP6V1E1	HP:0001263	Global developmental delay
529	ATP6V1E1	HP:0001257	Spasticity
529	ATP6V1E1	HP:0025201	Abnormal circulating apolipoprotein concentration
529	ATP6V1E1	HP:0100874	Thick hair
529	ATP6V1E1	HP:0007392	Excessive wrinkled skin
529	ATP6V1E1	HP:0008689	Bilateral cryptorchidism
529	ATP6V1E1	HP:0010989	Abnormality of the intrinsic pathway
529	ATP6V1E1	HP:0001374	Congenital hip dislocation
529	ATP6V1E1	HP:0001385	Hip dysplasia
529	ATP6V1E1	HP:0001388	Joint laxity
529	ATP6V1E1	HP:0000023	Inguinal hernia
529	ATP6V1E1	HP:0008897	Postnatal growth retardation
529	ATP6V1E1	HP:0007552	Abnormal subcutaneous fat tissue distribution
529	ATP6V1E1	HP:0007457	Prominent veins on trunk
529	ATP6V1E1	HP:0001339	Lissencephaly
529	ATP6V1E1	HP:0000007	Autosomal recessive inheritance
529	ATP6V1E1	HP:0001305	Dandy-Walker malformation
529	ATP6V1E1	HP:0001302	Pachygyria
529	ATP6V1E1	HP:0001321	Cerebellar hypoplasia
529	ATP6V1E1	HP:0001476	Delayed closure of the anterior fontanelle
529	ATP6V1E1	HP:0008947	Infantile muscular hypotonia
529	ATP6V1E1	HP:0002761	Generalized joint laxity
529	ATP6V1E1	HP:0002751	Kyphoscoliosis
529	ATP6V1E1	HP:0005989	Redundant neck skin
529	ATP6V1E1	HP:0002097	Emphysema
529	ATP6V1E1	HP:0011712	Right bundle branch block
529	ATP6V1E1	HP:0002126	Polymicrogyria
529	ATP6V1E1	HP:0002107	Pneumothorax
529	ATP6V1E1	HP:0002187	Intellectual disability, profound
529	ATP6V1E1	HP:0002208	Coarse hair
529	ATP6V1E1	HP:0200128	Biventricular hypertrophy
529	ATP6V1E1	HP:0011968	Feeding difficulties
529	ATP6V1E1	HP:0002361	Psychomotor deterioration
529	ATP6V1E1	HP:0010761	Broad columella
529	ATP6V1E1	HP:0006891	Thick cerebral cortex
529	ATP6V1E1	HP:0000639	Nystagmus
529	ATP6V1E1	HP:0000621	Entropion
529	ATP6V1E1	HP:0000678	Dental crowding
529	ATP6V1E1	HP:0000670	Carious teeth
529	ATP6V1E1	HP:0004325	Decreased body weight
529	ATP6V1E1	HP:0004322	Short stature
529	ATP6V1E1	HP:0000750	Delayed speech and language development
529	ATP6V1E1	HP:0000726	Dementia
529	ATP6V1E1	HP:0009125	Lipodystrophy
529	ATP6V1E1	HP:0003199	Decreased muscle mass
529	ATP6V1E1	HP:0003196	Short nose
529	ATP6V1E1	HP:0003160	Abnormal isoelectric focusing of serum transferrin
529	ATP6V1E1	HP:0000973	Cutis laxa
529	ATP6V1E1	HP:0008070	Sparse hair
529	ATP6V1E1	HP:0000272	Malar flattening
529	ATP6V1E1	HP:0006380	Knee flexion contracture
529	ATP6V1E1	HP:0000253	Progressive microcephaly
529	ATP6V1E1	HP:0001582	Redundant skin
529	ATP6V1E1	HP:0000218	High palate
529	ATP6V1E1	HP:0001508	Failure to thrive
529	ATP6V1E1	HP:0001519	Disproportionate tall stature
529	ATP6V1E1	HP:0001511	Intrauterine growth retardation
529	ATP6V1E1	HP:0001601	Laryngomalacia
529	ATP6V1E1	HP:0005180	Tricuspid regurgitation
529	ATP6V1E1	HP:0011003	High myopia
529	ATP6V1E1	HP:0000369	Low-set ears
529	ATP6V1E1	HP:0000343	Long philtrum
529	ATP6V1E1	HP:0000319	Smooth philtrum
529	ATP6V1E1	HP:0000316	Hypertelorism
529	ATP6V1E1	HP:0001659	Aortic regurgitation
529	ATP6V1E1	HP:0000325	Triangular face
529	ATP6V1E1	HP:0000307	Pointed chin
529	ATP6V1E1	HP:0001631	Atrial septal defect
529	ATP6V1E1	HP:0001634	Mitral valve prolapse
529	ATP6V1E1	HP:0005272	Prominent nasolabial fold
529	ATP6V1E1	HP:0000486	Strabismus
529	ATP6V1E1	HP:0000494	Downslanted palpebral fissures
529	ATP6V1E1	HP:0000463	Anteverted nares
529	ATP6V1E1	HP:0000455	Broad nasal tip
529	ATP6V1E1	HP:0001763	Pes planus
529	ATP6V1E1	HP:0001762	Talipes equinovarus
535	ATP6V0A1	HP:0020221	Clonic seizure
535	ATP6V0A1	HP:0010851	EEG with burst suppression
535	ATP6V0A1	HP:0001272	Cerebellar atrophy
535	ATP6V0A1	HP:0001250	Seizure
535	ATP6V0A1	HP:0001251	Ataxia
535	ATP6V0A1	HP:0001249	Intellectual disability
535	ATP6V0A1	HP:0001263	Global developmental delay
535	ATP6V0A1	HP:0007366	Atrophy/Degeneration affecting the brainstem
535	ATP6V0A1	HP:0002539	Cortical dysplasia
535	ATP6V0A1	HP:0002521	Hypsarrhythmia
535	ATP6V0A1	HP:0002510	Spastic tetraplegia
535	ATP6V0A1	HP:0025357	Erratic myoclonus
535	ATP6V0A1	HP:0000007	Autosomal recessive inheritance
535	ATP6V0A1	HP:0000006	Autosomal dominant inheritance
535	ATP6V0A1	HP:0001336	Myoclonus
535	ATP6V0A1	HP:0001321	Cerebellar hypoplasia
535	ATP6V0A1	HP:0002020	Gastroesophageal reflux
535	ATP6V0A1	HP:0002033	Poor suck
535	ATP6V0A1	HP:0002069	Bilateral tonic-clonic seizure
535	ATP6V0A1	HP:0002100	Recurrent aspiration pneumonia
535	ATP6V0A1	HP:0003593	Infantile onset
535	ATP6V0A1	HP:0002254	Intermittent diarrhea
535	ATP6V0A1	HP:0100716	Self-injurious behavior
535	ATP6V0A1	HP:0007018	Attention deficit hyperactivity disorder
535	ATP6V0A1	HP:0011968	Feeding difficulties
535	ATP6V0A1	HP:0002384	Focal impaired awareness seizure
535	ATP6V0A1	HP:0003623	Neonatal onset
535	ATP6V0A1	HP:0003621	Juvenile onset
535	ATP6V0A1	HP:0004395	Malnutrition
535	ATP6V0A1	HP:0031936	Delayed ability to walk
535	ATP6V0A1	HP:0000752	Hyperactivity
535	ATP6V0A1	HP:0000750	Delayed speech and language development
535	ATP6V0A1	HP:0000713	Agitation
535	ATP6V0A1	HP:0000729	Autistic behavior
535	ATP6V0A1	HP:0011462	Young adult onset
535	ATP6V0A1	HP:0000939	Osteoporosis
535	ATP6V0A1	HP:0001561	Polyhydramnios
535	ATP6V0A1	HP:0011097	Epileptic spasm
535	ATP6V0A1	HP:0032792	Tonic seizure
535	ATP6V0A1	HP:0000303	Mandibular prognathia
535	ATP6V0A1	HP:0032989	Delayed ability to roll over
535	ATP6V0A1	HP:0000505	Visual impairment
537	ATP6AP1	HP:0001256	Intellectual disability, mild
537	ATP6AP1	HP:0001250	Seizure
537	ATP6AP1	HP:0001252	Hypotonia
537	ATP6AP1	HP:0001263	Global developmental delay
537	ATP6AP1	HP:0001397	Hepatic steatosis
537	ATP6AP1	HP:0001396	Cholestasis
537	ATP6AP1	HP:0001395	Hepatic fibrosis
537	ATP6AP1	HP:0001394	Cirrhosis
537	ATP6AP1	HP:0001382	Joint hypermobility
537	ATP6AP1	HP:0001419	X-linked recessive inheritance
537	ATP6AP1	HP:0002719	Recurrent infections
537	ATP6AP1	HP:0002718	Recurrent bacterial infections
537	ATP6AP1	HP:0002028	Chronic diarrhea
537	ATP6AP1	HP:0003460	Decreased circulating total IgA
537	ATP6AP1	HP:0003593	Infantile onset
537	ATP6AP1	HP:0002240	Hepatomegaly
537	ATP6AP1	HP:0100702	Arachnoid cyst
537	ATP6AP1	HP:0011967	Decreased circulating copper concentration
537	ATP6AP1	HP:0032132	Decreased circulating total IgG
537	ATP6AP1	HP:0032134	Chronic decreased circulating total IgG
537	ATP6AP1	HP:0003623	Neonatal onset
537	ATP6AP1	HP:0000601	Hypotelorism
537	ATP6AP1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
537	ATP6AP1	HP:0031964	Elevated circulating alanine aminotransferase concentration
537	ATP6AP1	HP:0004313	Decreased circulating antibody level
537	ATP6AP1	HP:0011463	Childhood onset
537	ATP6AP1	HP:0003124	Hypercholesterolemia
537	ATP6AP1	HP:0012852	Hepatic bridging fibrosis
537	ATP6AP1	HP:0000973	Cutis laxa
537	ATP6AP1	HP:0001522	Death in infancy
537	ATP6AP1	HP:0001508	Failure to thrive
537	ATP6AP1	HP:0002850	Decreased circulating total IgM
537	ATP6AP1	HP:0012358	Abnormal protein O-linked glycosylation
537	ATP6AP1	HP:0006579	Prolonged neonatal jaundice
537	ATP6AP1	HP:0002910	Elevated hepatic transaminase
537	ATP6AP1	HP:0005180	Tricuspid regurgitation
537	ATP6AP1	HP:0012347	Abnormal protein N-linked glycosylation
537	ATP6AP1	HP:0000348	High forehead
537	ATP6AP1	HP:0012301	Type II transferrin isoform profile
537	ATP6AP1	HP:0001738	Exocrine pancreatic insufficiency
537	ATP6AP1	HP:0000407	Sensorineural hearing impairment
537	ATP6AP1	HP:0001747	Accessory spleen
537	ATP6AP1	HP:0001744	Splenomegaly
537	ATP6AP1	HP:0001897	Normocytic anemia
537	ATP6AP1	HP:0000540	Hypermetropia
537	ATP6AP1	HP:0001882	Leukopenia
537	ATP6AP1	HP:0001873	Thrombocytopenia
538	ATP7A	HP:0001181	Adducted thumb
538	ATP7A	HP:0001156	Brachydactyly
538	ATP7A	HP:0002460	Distal muscle weakness
538	ATP7A	HP:0003777	Pili torti
538	ATP7A	HP:0007269	Spinal muscular atrophy
538	ATP7A	HP:0002421	Poor head control
538	ATP7A	HP:0100806	Sepsis
538	ATP7A	HP:0001276	Hypertonia
538	ATP7A	HP:0001278	Orthostatic hypotension
538	ATP7A	HP:0001250	Seizure
538	ATP7A	HP:0001252	Hypotonia
538	ATP7A	HP:0001249	Intellectual disability
538	ATP7A	HP:0002578	Gastroparesis
538	ATP7A	HP:0001265	Hyporeflexia
538	ATP7A	HP:0001263	Global developmental delay
538	ATP7A	HP:0001257	Spasticity
538	ATP7A	HP:0001241	Capitate-hamate fusion
538	ATP7A	HP:0007420	Spontaneous hematomas
538	ATP7A	HP:0025270	Abnormal esophagus physiology
538	ATP7A	HP:0100874	Thick hair
538	ATP7A	HP:0006000	Ureteral obstruction
538	ATP7A	HP:0003874	Humerus varus
538	ATP7A	HP:0002521	Hypsarrhythmia
538	ATP7A	HP:0002514	Cerebral calcification
538	ATP7A	HP:0003819	Death in childhood
538	ATP7A	HP:0001396	Cholestasis
538	ATP7A	HP:0001377	Limited elbow extension
538	ATP7A	HP:0001385	Hip dysplasia
538	ATP7A	HP:0001388	Joint laxity
538	ATP7A	HP:0000023	Inguinal hernia
538	ATP7A	HP:0000015	Bladder diverticulum
538	ATP7A	HP:0008872	Feeding difficulties in infancy
538	ATP7A	HP:0008818	Large iliac wing
538	ATP7A	HP:0001328	Specific learning disability
538	ATP7A	HP:0001324	Muscle weakness
538	ATP7A	HP:0000010	Recurrent urinary tract infections
538	ATP7A	HP:0002673	Coxa valga
538	ATP7A	HP:0002650	Scoliosis
538	ATP7A	HP:0002645	Wormian bones
538	ATP7A	HP:0002617	Vascular dilatation
538	ATP7A	HP:0000174	Abnormal palate morphology
538	ATP7A	HP:0002797	Osteolysis
538	ATP7A	HP:0012115	Hepatitis
538	ATP7A	HP:0002705	High, narrow palate
538	ATP7A	HP:0000126	Hydronephrosis
538	ATP7A	HP:0002757	Recurrent fractures
538	ATP7A	HP:0002754	Osteomyelitis
538	ATP7A	HP:0001419	X-linked recessive inheritance
538	ATP7A	HP:0002748	Rickets
538	ATP7A	HP:0002749	Osteomalacia
538	ATP7A	HP:0002024	Malabsorption
538	ATP7A	HP:0002020	Gastroesophageal reflux
538	ATP7A	HP:0002019	Constipation
538	ATP7A	HP:0002017	Nausea and vomiting
538	ATP7A	HP:0002036	Hiatus hernia
538	ATP7A	HP:0002033	Poor suck
538	ATP7A	HP:0002027	Abdominal pain
538	ATP7A	HP:0002028	Chronic diarrhea
538	ATP7A	HP:0002014	Diarrhea
538	ATP7A	HP:0002015	Dysphagia
538	ATP7A	HP:0100541	Femoral hernia
538	ATP7A	HP:0100545	Arterial stenosis
538	ATP7A	HP:0002072	Chorea
538	ATP7A	HP:0002045	Hypothermia
538	ATP7A	HP:0003487	Babinski sign
538	ATP7A	HP:0003445	EMG: neuropathic changes
538	ATP7A	HP:0002170	Intracranial hemorrhage
538	ATP7A	HP:0010562	Keloids
538	ATP7A	HP:0009556	Absent tibia
538	ATP7A	HP:0003593	Infantile onset
538	ATP7A	HP:0002239	Gastrointestinal hemorrhage
538	ATP7A	HP:0002251	Aganglionic megacolon
538	ATP7A	HP:0002224	Woolly hair
538	ATP7A	HP:0002208	Coarse hair
538	ATP7A	HP:0100777	Exostoses
538	ATP7A	HP:0100790	Hernia
538	ATP7A	HP:0002299	Brittle hair
538	ATP7A	HP:0008368	Tarsal synostosis
538	ATP7A	HP:0011967	Decreased circulating copper concentration
538	ATP7A	HP:0003693	Distal amyotrophy
538	ATP7A	HP:0002376	Developmental regression
538	ATP7A	HP:0001010	Hypopigmentation of the skin
538	ATP7A	HP:0003677	Slowly progressive
538	ATP7A	HP:0002317	Unsteady gait
538	ATP7A	HP:0200021	Down-sloping shoulders
538	ATP7A	HP:0010837	Decreased circulating ceruloplasmin concentration
538	ATP7A	HP:0200008	Intestinal polyposis
538	ATP7A	HP:0001072	Thickened skin
538	ATP7A	HP:0100633	Esophagitis
538	ATP7A	HP:0100699	Scarring
538	ATP7A	HP:0003621	Juvenile onset
538	ATP7A	HP:0005599	Hypopigmentation of hair
538	ATP7A	HP:0004279	Short palm
538	ATP7A	HP:0001943	Hypoglycemia
538	ATP7A	HP:0004322	Short stature
538	ATP7A	HP:0003066	Limited knee extension
538	ATP7A	HP:0005692	Joint hyperflexibility
538	ATP7A	HP:0003016	Metaphyseal widening
538	ATP7A	HP:0003019	Abnormality of the wrist
538	ATP7A	HP:0000759	Abnormal peripheral nervous system morphology
538	ATP7A	HP:0000767	Pectus excavatum
538	ATP7A	HP:0000768	Pectus carinatum
538	ATP7A	HP:0100031	Neoplasm of the thyroid gland
538	ATP7A	HP:0012719	Functional abnormality of the gastrointestinal tract
538	ATP7A	HP:0000708	Atypical behavior
538	ATP7A	HP:0000774	Narrow chest
538	ATP7A	HP:0005743	Avascular necrosis of the capital femoral epiphysis
538	ATP7A	HP:0004408	Abnormality of the sense of smell
538	ATP7A	HP:0000916	Broad clavicles
538	ATP7A	HP:0000929	Abnormal skull morphology
538	ATP7A	HP:0000926	Platyspondyly
538	ATP7A	HP:0003172	Abnormality of the pubic bone
538	ATP7A	HP:0005792	Short humerus
538	ATP7A	HP:0004474	Persistent open anterior fontanelle
538	ATP7A	HP:0000885	Broad ribs
538	ATP7A	HP:0000894	Short clavicles
538	ATP7A	HP:0003276	Pelvic bone exostoses
538	ATP7A	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
538	ATP7A	HP:0000978	Bruising susceptibility
538	ATP7A	HP:0000977	Soft skin
538	ATP7A	HP:0000974	Hyperextensible skin
538	ATP7A	HP:0000973	Cutis laxa
538	ATP7A	HP:0000987	Atypical scarring of skin
538	ATP7A	HP:0000958	Dry skin
538	ATP7A	HP:0000952	Jaundice
538	ATP7A	HP:0000939	Osteoporosis
538	ATP7A	HP:0000938	Osteopenia
538	ATP7A	HP:0000934	Chondrocalcinosis
538	ATP7A	HP:0100240	Synostosis of joints
538	ATP7A	HP:0000944	Abnormal metaphysis morphology
538	ATP7A	HP:0008070	Sparse hair
538	ATP7A	HP:0000298	Mask-like facies
538	ATP7A	HP:0000293	Full cheeks
538	ATP7A	HP:0001596	Alopecia
538	ATP7A	HP:0000275	Narrow face
538	ATP7A	HP:0000276	Long face
538	ATP7A	HP:0000271	Abnormality of the face
538	ATP7A	HP:0000270	Delayed cranial suture closure
538	ATP7A	HP:0000269	Prominent occiput
538	ATP7A	HP:0002812	Coxa vara
538	ATP7A	HP:0002827	Hip dislocation
538	ATP7A	HP:0002808	Kyphosis
538	ATP7A	HP:0005054	Metaphyseal spurs
538	ATP7A	HP:0000239	Large fontanelles
538	ATP7A	HP:0000252	Microcephaly
538	ATP7A	HP:0001582	Redundant skin
538	ATP7A	HP:0000248	Brachycephaly
538	ATP7A	HP:0000218	High palate
538	ATP7A	HP:0002862	Bladder carcinoma
538	ATP7A	HP:0001531	Failure to thrive in infancy
538	ATP7A	HP:0002857	Genu valgum
538	ATP7A	HP:0001537	Umbilical hernia
538	ATP7A	HP:0001511	Intrauterine growth retardation
538	ATP7A	HP:0001510	Growth delay
538	ATP7A	HP:0006507	Aplasia/hypoplasia of the humerus
538	ATP7A	HP:0011097	Epileptic spasm
538	ATP7A	HP:0012378	Fatigue
538	ATP7A	HP:0006579	Prolonged neonatal jaundice
538	ATP7A	HP:0005214	Intestinal obstruction
538	ATP7A	HP:0002936	Distal sensory impairment
538	ATP7A	HP:0006487	Bowing of the long bones
538	ATP7A	HP:0000343	Long philtrum
538	ATP7A	HP:0000348	High forehead
538	ATP7A	HP:0000347	Micrognathia
538	ATP7A	HP:0002991	Abnormality of fibula morphology
538	ATP7A	HP:0005302	Carotid artery tortuosity
538	ATP7A	HP:0005344	Abnormal carotid artery morphology
538	ATP7A	HP:0006660	Aplastic clavicle
538	ATP7A	HP:0000407	Sensorineural hearing impairment
538	ATP7A	HP:0005293	Venous insufficiency
538	ATP7A	HP:0000494	Downslanted palpebral fissures
538	ATP7A	HP:0000472	Long neck
538	ATP7A	HP:0001763	Pes planus
538	ATP7A	HP:0000444	Convex nasal ridge
538	ATP7A	HP:0001761	Pes cavus
538	ATP7A	HP:0001824	Weight loss
540	ATP7B	HP:0001155	Abnormality of the hand
540	ATP7B	HP:0002451	Limb dystonia
540	ATP7B	HP:0007327	Mixed demyelinating and axonal polyneuropathy
540	ATP7B	HP:0032254	Increased circulating copper concentration
540	ATP7B	HP:0001271	Polyneuropathy
540	ATP7B	HP:0001250	Seizure
540	ATP7B	HP:0001249	Intellectual disability
540	ATP7B	HP:0001260	Dysarthria
540	ATP7B	HP:0001259	Coma
540	ATP7B	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
540	ATP7B	HP:0000093	Proteinuria
540	ATP7B	HP:0001397	Hepatic steatosis
540	ATP7B	HP:0001399	Hepatic failure
540	ATP7B	HP:0001394	Cirrhosis
540	ATP7B	HP:0001369	Arthritis
540	ATP7B	HP:0001386	Joint swelling
540	ATP7B	HP:0001382	Joint hypermobility
540	ATP7B	HP:0033834	Malaise
540	ATP7B	HP:0001332	Dystonia
540	ATP7B	HP:0000007	Autosomal recessive inheritance
540	ATP7B	HP:0001337	Tremor
540	ATP7B	HP:0033748	Hypoesthesia
540	ATP7B	HP:0002653	Bone pain
540	ATP7B	HP:0000140	Abnormality of the menstrual cycle
540	ATP7B	HP:0012115	Hepatitis
540	ATP7B	HP:0008994	Proximal muscle weakness in lower limbs
540	ATP7B	HP:0000124	Renal tubular dysfunction
540	ATP7B	HP:0002758	Osteoarthritis
540	ATP7B	HP:0002756	Pathologic fracture
540	ATP7B	HP:0001402	Hepatocellular carcinoma
540	ATP7B	HP:0002749	Osteomalacia
540	ATP7B	HP:0003355	Aminoaciduria
540	ATP7B	HP:0002015	Dysphagia
540	ATP7B	HP:0002013	Vomiting
540	ATP7B	HP:0002063	Rigidity
540	ATP7B	HP:0002071	Abnormality of extrapyramidal motor function
540	ATP7B	HP:0002040	Esophageal varix
540	ATP7B	HP:0002150	Hypercalciuria
540	ATP7B	HP:0003418	Back pain
540	ATP7B	HP:0002275	Poor motor coordination
540	ATP7B	HP:0002240	Hepatomegaly
540	ATP7B	HP:0003537	Hypouricemia
540	ATP7B	HP:0200119	Acute hepatitis
540	ATP7B	HP:0100785	Insomnia
540	ATP7B	HP:0200122	Atypical or prolonged hepatitis
540	ATP7B	HP:0003690	Limb muscle weakness
540	ATP7B	HP:0002378	Hand tremor
540	ATP7B	HP:0002375	Hypokinesia
540	ATP7B	HP:0002355	Difficulty walking
540	ATP7B	HP:0010838	High nonceruloplasmin-bound serum copper
540	ATP7B	HP:0010837	Decreased circulating ceruloplasmin concentration
540	ATP7B	HP:0010839	Increased urinary copper concentration
540	ATP7B	HP:0200032	Kayser-Fleischer ring
540	ATP7B	HP:0010741	Pedal edema
540	ATP7B	HP:0002312	Clumsiness
540	ATP7B	HP:0002307	Drooling
540	ATP7B	HP:0003621	Juvenile onset
540	ATP7B	HP:0001903	Anemia
540	ATP7B	HP:0004324	Increased body weight
540	ATP7B	HP:0031956	Elevated circulating aspartate aminotransferase concentration
540	ATP7B	HP:0031964	Elevated circulating alanine aminotransferase concentration
540	ATP7B	HP:0003076	Glycosuria
540	ATP7B	HP:0003073	Hypoalbuminemia
540	ATP7B	HP:0000751	Personality changes
540	ATP7B	HP:0000762	Decreased nerve conduction velocity
540	ATP7B	HP:0000716	Depression
540	ATP7B	HP:0000718	Aggressive behavior
540	ATP7B	HP:0000726	Dementia
540	ATP7B	HP:0011463	Childhood onset
540	ATP7B	HP:0011462	Young adult onset
540	ATP7B	HP:0000787	Nephrolithiasis
540	ATP7B	HP:0003109	Hyperphosphaturia
540	ATP7B	HP:0004409	Hyposmia
540	ATP7B	HP:0000829	Hypoparathyroidism
540	ATP7B	HP:0034254	Face of the giant panda sign
540	ATP7B	HP:0003270	Abdominal distention
540	ATP7B	HP:0000978	Bruising susceptibility
540	ATP7B	HP:0000989	Pruritus
540	ATP7B	HP:0000952	Jaundice
540	ATP7B	HP:0000969	Edema
540	ATP7B	HP:0000939	Osteoporosis
540	ATP7B	HP:0000934	Chondrocalcinosis
540	ATP7B	HP:0002829	Arthralgia
540	ATP7B	HP:0001541	Ascites
540	ATP7B	HP:0001508	Failure to thrive
540	ATP7B	HP:0006580	Portal fibrosis
540	ATP7B	HP:0006554	Acute hepatic failure
540	ATP7B	HP:0002910	Elevated hepatic transaminase
540	ATP7B	HP:0002904	Hyperbilirubinemia
540	ATP7B	HP:0030214	Hypersexuality
540	ATP7B	HP:0025710	Late young adult onset
540	ATP7B	HP:0001744	Splenomegaly
540	ATP7B	HP:0025709	Intermediate young adult onset
540	ATP7B	HP:0001824	Weight loss
540	ATP7B	HP:0001878	Hemolytic anemia
540	ATP7B	HP:0001873	Thrombocytopenia
545	ATR	HP:0025127	Actinic keratosis
545	ATR	HP:0001250	Seizure
545	ATR	HP:0001249	Intellectual disability
545	ATR	HP:0007380	Facial telangiectasia
545	ATR	HP:0008665	Clitoral hypertrophy
545	ATR	HP:0001385	Hip dysplasia
545	ATR	HP:0000047	Hypospadias
545	ATR	HP:0001363	Craniosynostosis
545	ATR	HP:0033832	Livedo
545	ATR	HP:0000028	Cryptorchidism
545	ATR	HP:0008897	Postnatal growth retardation
545	ATR	HP:0007495	Prematurely aged appearance
545	ATR	HP:0006143	Abnormal finger flexion crease
545	ATR	HP:0000007	Autosomal recessive inheritance
545	ATR	HP:0000006	Autosomal dominant inheritance
545	ATR	HP:0001302	Pachygyria
545	ATR	HP:0001320	Cerebellar vermis hypoplasia
545	ATR	HP:0002650	Scoliosis
545	ATR	HP:0012182	Oropharyngeal squamous cell carcinoma
545	ATR	HP:0000175	Cleft palate
545	ATR	HP:0006297	Enamel hypoplasia
545	ATR	HP:0002750	Delayed skeletal maturation
545	ATR	HP:0100543	Cognitive impairment
545	ATR	HP:0010579	Cone-shaped epiphysis
545	ATR	HP:0010583	Ivory epiphyses
545	ATR	HP:0003593	Infantile onset
545	ATR	HP:0003577	Congenital onset
545	ATR	HP:0002209	Sparse scalp hair
545	ATR	HP:0008404	Nail dystrophy
545	ATR	HP:0007048	Large basal ganglia
545	ATR	HP:0003508	Proportionate short stature
545	ATR	HP:0001009	Telangiectasia
545	ATR	HP:0001090	Abnormally large globe
545	ATR	HP:0009804	Tooth agenesis
545	ATR	HP:0004209	Clinodactyly of the 5th finger
545	ATR	HP:0011367	Yellow nails
545	ATR	HP:0000682	Abnormal dental enamel morphology
545	ATR	HP:0011342	Mild global developmental delay
545	ATR	HP:0000678	Dental crowding
545	ATR	HP:0000689	Dental malocclusion
545	ATR	HP:0000670	Carious teeth
545	ATR	HP:0004322	Short stature
545	ATR	HP:0003002	Breast carcinoma
545	ATR	HP:0004326	Cachexia
545	ATR	HP:0003083	Dislocated radial head
545	ATR	HP:0005692	Joint hyperflexibility
545	ATR	HP:0000752	Hyperactivity
545	ATR	HP:0011463	Childhood onset
545	ATR	HP:0000878	11 pairs of ribs
545	ATR	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
545	ATR	HP:0000954	Single transverse palmar crease
545	ATR	HP:0001596	Alopecia
545	ATR	HP:0001592	Selective tooth agenesis
545	ATR	HP:0000275	Narrow face
545	ATR	HP:0006442	Hypoplasia of proximal fibula
545	ATR	HP:0006434	Hypoplasia of proximal radius
545	ATR	HP:0002827	Hip dislocation
545	ATR	HP:0000237	Small anterior fontanelle
545	ATR	HP:0000252	Microcephaly
545	ATR	HP:0012203	Onychomycosis
545	ATR	HP:0000218	High palate
545	ATR	HP:0001511	Intrauterine growth retardation
545	ATR	HP:0011065	Conical incisor
545	ATR	HP:0000387	Absent earlobe
545	ATR	HP:0000377	Abnormal pinna morphology
545	ATR	HP:0000363	Abnormal earlobe morphology
545	ATR	HP:0000369	Low-set ears
545	ATR	HP:0000340	Sloping forehead
545	ATR	HP:0000347	Micrognathia
545	ATR	HP:0002987	Elbow flexion contracture
545	ATR	HP:0000324	Facial asymmetry
545	ATR	HP:0005338	Sparse lateral eyebrow
545	ATR	HP:0000486	Strabismus
545	ATR	HP:0000494	Downslanted palpebral fissures
545	ATR	HP:0001763	Pes planus
545	ATR	HP:0000448	Prominent nose
545	ATR	HP:0000444	Convex nasal ridge
545	ATR	HP:0001852	Sandal gap
545	ATR	HP:0000501	Glaucoma
545	ATR	HP:0001807	Ridged nail
545	ATR	HP:0001806	Onycholysis
545	ATR	HP:0000581	Blepharophimosis
545	ATR	HP:0001883	Talipes
545	ATR	HP:0001876	Pancytopenia
546	ATRX	HP:0001182	Tapered finger
546	ATRX	HP:0002488	Acute leukemia
546	ATRX	HP:0001156	Brachydactyly
546	ATRX	HP:0001123	Visual field defect
546	ATRX	HP:0010885	Avascular necrosis
546	ATRX	HP:0010864	Intellectual disability, severe
546	ATRX	HP:0008551	Microtia
546	ATRX	HP:0001297	Stroke
546	ATRX	HP:0025269	Panic attack
546	ATRX	HP:0001274	Agenesis of corpus callosum
546	ATRX	HP:0001250	Seizure
546	ATRX	HP:0002580	Volvulus
546	ATRX	HP:0001252	Hypotonia
546	ATRX	HP:0001249	Intellectual disability
546	ATRX	HP:0001263	Global developmental delay
546	ATRX	HP:0001258	Spastic paraplegia
546	ATRX	HP:0001257	Spasticity
546	ATRX	HP:0002574	Episodic abdominal pain
546	ATRX	HP:0001238	Slender finger
546	ATRX	HP:0008734	Decreased testicular size
546	ATRX	HP:0008736	Hypoplasia of penis
546	ATRX	HP:0007380	Facial telangiectasia
546	ATRX	HP:0025383	Dorsocervical fat pad
546	ATRX	HP:0000089	Renal hypoplasia
546	ATRX	HP:0001399	Hepatic failure
546	ATRX	HP:0000062	Ambiguous genitalia
546	ATRX	HP:0000077	Abnormality of the kidney
546	ATRX	HP:0000076	Vesicoureteral reflux
546	ATRX	HP:0000046	Small scrotum
546	ATRX	HP:0001371	Flexion contracture
546	ATRX	HP:0012030	Increased urinary cortisol level
546	ATRX	HP:0000037	Male pseudohermaphroditism
546	ATRX	HP:0000054	Micropenis
546	ATRX	HP:0001387	Joint stiffness
546	ATRX	HP:0000047	Hypospadias
546	ATRX	HP:0000049	Shawl scrotum
546	ATRX	HP:0001347	Hyperreflexia
546	ATRX	HP:0002690	Large sella turcica
546	ATRX	HP:0000028	Cryptorchidism
546	ATRX	HP:0002688	Absent frontal sinuses
546	ATRX	HP:0008897	Postnatal growth retardation
546	ATRX	HP:0008872	Feeding difficulties in infancy
546	ATRX	HP:0001324	Muscle weakness
546	ATRX	HP:0000010	Recurrent urinary tract infections
546	ATRX	HP:0002673	Coxa valga
546	ATRX	HP:0002668	Paraganglioma
546	ATRX	HP:0002650	Scoliosis
546	ATRX	HP:0002615	Hypotension
546	ATRX	HP:0000188	Short upper lip
546	ATRX	HP:0000179	Thick lower lip vermilion
546	ATRX	HP:0000194	Open mouth
546	ATRX	HP:0000164	Abnormality of the dentition
546	ATRX	HP:0000158	Macroglossia
546	ATRX	HP:0000141	Amenorrhea
546	ATRX	HP:0000135	Hypogonadism
546	ATRX	HP:0000154	Wide mouth
546	ATRX	HP:0025428	Bronchospasm
546	ATRX	HP:0008947	Infantile muscular hypotonia
546	ATRX	HP:0031284	Flushing
546	ATRX	HP:0500011	Moon facies
546	ATRX	HP:0000126	Hydronephrosis
546	ATRX	HP:0001423	X-linked dominant inheritance
546	ATRX	HP:0000104	Renal agenesis
546	ATRX	HP:0002751	Kyphoscoliosis
546	ATRX	HP:0002750	Delayed skeletal maturation
546	ATRX	HP:0001419	X-linked recessive inheritance
546	ATRX	HP:0002730	Chronic noninfectious lymphadenopathy
546	ATRX	HP:0002721	Immunodeficiency
546	ATRX	HP:0002020	Gastroesophageal reflux
546	ATRX	HP:0002019	Constipation
546	ATRX	HP:0002017	Nausea and vomiting
546	ATRX	HP:0002033	Poor suck
546	ATRX	HP:0002013	Vomiting
546	ATRX	HP:0011800	Midface retrusion
546	ATRX	HP:0002086	Abnormality of the respiratory system
546	ATRX	HP:0002094	Dyspnea
546	ATRX	HP:0002069	Bilateral tonic-clonic seizure
546	ATRX	HP:0002044	Zollinger-Ellison syndrome
546	ATRX	HP:0002039	Anorexia
546	ATRX	HP:0002059	Cerebral atrophy
546	ATRX	HP:0009466	Radial deviation of finger
546	ATRX	HP:0100570	Carcinoid tumor
546	ATRX	HP:0040270	Impaired glucose tolerance
546	ATRX	HP:0010461	Abnormality of the male genitalia
546	ATRX	HP:0002120	Cerebral cortical atrophy
546	ATRX	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
546	ATRX	HP:0011907	Reduced alpha/beta synthesis ratio
546	ATRX	HP:0011902	Abnormal hemoglobin
546	ATRX	HP:0011903	HbH hemoglobin
546	ATRX	HP:0008221	Adrenal hyperplasia
546	ATRX	HP:0008291	Pituitary corticotropic cell adenoma
546	ATRX	HP:0002240	Hepatomegaly
546	ATRX	HP:0002254	Intermittent diarrhea
546	ATRX	HP:0002251	Aganglionic megacolon
546	ATRX	HP:0100716	Self-injurious behavior
546	ATRX	HP:0002249	Melena
546	ATRX	HP:0002248	Hematemesis
546	ATRX	HP:0002209	Sparse scalp hair
546	ATRX	HP:0011999	Paranoia
546	ATRX	HP:0004840	Hypochromic microcytic anemia
546	ATRX	HP:0001058	Poor wound healing
546	ATRX	HP:0002383	Infectious encephalitis
546	ATRX	HP:0002381	Aphasia
546	ATRX	HP:0001050	Plethora
546	ATRX	HP:0025017	Capillary fragility
546	ATRX	HP:0001065	Striae distensae
546	ATRX	HP:0001061	Acne
546	ATRX	HP:0001005	Dermatological manifestations of systemic disorders
546	ATRX	HP:0001007	Hirsutism
546	ATRX	HP:0002354	Memory impairment
546	ATRX	HP:0002315	Headache
546	ATRX	HP:0025085	Bloody diarrhea
546	ATRX	HP:0010804	Tented upper lip vermilion
546	ATRX	HP:0010808	Protruding tongue
546	ATRX	HP:0010806	U-Shaped upper lip vermilion
546	ATRX	HP:0200042	Skin ulcer
546	ATRX	HP:0007126	Proximal amyotrophy
546	ATRX	HP:0010741	Pedal edema
546	ATRX	HP:0002307	Drooling
546	ATRX	HP:0004209	Clinodactyly of the 5th finger
546	ATRX	HP:0031845	Abnormal libido
546	ATRX	HP:0031891	Decreased eosinophil count
546	ATRX	HP:0006895	Lower limb hypertonia
546	ATRX	HP:0006887	Intellectual disability, progressive
546	ATRX	HP:0001962	Palpitations
546	ATRX	HP:0000648	Optic atrophy
546	ATRX	HP:0001974	Leukocytosis
546	ATRX	HP:0000618	Blindness
546	ATRX	HP:0001956	Truncal obesity
546	ATRX	HP:0001935	Microcytic anemia
546	ATRX	HP:0001903	Anemia
546	ATRX	HP:0011370	Recurrent cutaneous fungal infections
546	ATRX	HP:0000699	Diastema
546	ATRX	HP:0011328	Abnormality of fontanelles
546	ATRX	HP:0004324	Increased body weight
546	ATRX	HP:0004322	Short stature
546	ATRX	HP:0004385	Protracted diarrhea
546	ATRX	HP:0004396	Poor appetite
546	ATRX	HP:0012743	Abdominal obesity
546	ATRX	HP:0000752	Hyperactivity
546	ATRX	HP:0012736	Profound global developmental delay
546	ATRX	HP:0100022	Abnormality of movement
546	ATRX	HP:0000749	Paroxysmal bursts of laughter
546	ATRX	HP:0012701	Bowel urgency
546	ATRX	HP:0000716	Depression
546	ATRX	HP:0000717	Autism
546	ATRX	HP:0000712	Emotional lability
546	ATRX	HP:0000726	Dementia
546	ATRX	HP:0000725	Psychotic episodes
546	ATRX	HP:0000709	Psychosis
546	ATRX	HP:0000708	Atypical behavior
546	ATRX	HP:0011463	Childhood onset
546	ATRX	HP:0003118	Increased circulating cortisol level
546	ATRX	HP:0003196	Short nose
546	ATRX	HP:0003154	Increased circulating ACTH level
546	ATRX	HP:0003144	Increased serum serotonin
546	ATRX	HP:0000876	Oligomenorrhea
546	ATRX	HP:0000869	Secondary amenorrhea
546	ATRX	HP:0000819	Diabetes mellitus
546	ATRX	HP:0000822	Hypertension
546	ATRX	HP:0010284	Intra-oral hyperpigmentation
546	ATRX	HP:0000979	Purpura
546	ATRX	HP:0000978	Bruising susceptibility
546	ATRX	HP:0000953	Hyperpigmentation of the skin
546	ATRX	HP:0000963	Thin skin
546	ATRX	HP:0000939	Osteoporosis
546	ATRX	HP:0011682	Perimembranous ventricular septal defect
546	ATRX	HP:0000286	Epicanthus
546	ATRX	HP:0000280	Coarse facial features
546	ATRX	HP:0000271	Abnormality of the face
546	ATRX	HP:0000272	Malar flattening
546	ATRX	HP:0000268	Dolichocephaly
546	ATRX	HP:0030084	Clinodactyly
546	ATRX	HP:0002808	Kyphosis
546	ATRX	HP:0001566	Widely-spaced maxillary central incisors
546	ATRX	HP:0000252	Microcephaly
546	ATRX	HP:0000219	Thin upper lip vermilion
546	ATRX	HP:0000218	High palate
546	ATRX	HP:0000232	Everted lower lip vermilion
546	ATRX	HP:0002857	Genu valgum
546	ATRX	HP:0001522	Death in infancy
546	ATRX	HP:0001537	Umbilical hernia
546	ATRX	HP:0002863	Myelodysplasia
546	ATRX	HP:0031364	Ecchymosis
546	ATRX	HP:0001510	Growth delay
546	ATRX	HP:0001513	Obesity
546	ATRX	HP:0007807	Optic nerve compression
546	ATRX	HP:0012378	Fatigue
546	ATRX	HP:0012368	Flat face
546	ATRX	HP:0030200	Fatiguable weakness of proximal limb muscles
546	ATRX	HP:0002937	Hemivertebrae
546	ATRX	HP:0001612	Weak cry
546	ATRX	HP:0002910	Elevated hepatic transaminase
546	ATRX	HP:0005180	Tricuspid regurgitation
546	ATRX	HP:0000358	Posteriorly rotated ears
546	ATRX	HP:0000369	Low-set ears
546	ATRX	HP:0000341	Narrow forehead
546	ATRX	HP:0000347	Micrognathia
546	ATRX	HP:0000316	Hypertelorism
546	ATRX	HP:0030149	Cardiogenic shock
546	ATRX	HP:0030145	Lack of bowel sounds
546	ATRX	HP:0001658	Myocardial infarction
546	ATRX	HP:0001629	Ventricular septal defect
546	ATRX	HP:0001626	Abnormality of the cardiovascular system
546	ATRX	HP:0002953	Vertebral compression fracture
546	ATRX	HP:0000303	Mandibular prognathia
546	ATRX	HP:0005326	Hypoplastic philtrum
546	ATRX	HP:0000407	Sensorineural hearing impairment
546	ATRX	HP:0001708	Right ventricular failure
546	ATRX	HP:0005280	Depressed nasal bridge
546	ATRX	HP:0012471	Thick vermilion border
546	ATRX	HP:0000463	Anteverted nares
546	ATRX	HP:0031566	Abnormal pulmonary valve cusp morphology
546	ATRX	HP:0000457	Depressed nasal ridge
546	ATRX	HP:0000470	Short neck
546	ATRX	HP:0031589	Suicidal ideation
546	ATRX	HP:0001763	Pes planus
546	ATRX	HP:0000451	Triangular nasal tip
546	ATRX	HP:0001744	Splenomegaly
546	ATRX	HP:0001762	Talipes equinovarus
546	ATRX	HP:0000431	Wide nasal bridge
546	ATRX	HP:0030446	Atypical pulmonary carcinoid tumor
546	ATRX	HP:0001824	Weight loss
546	ATRX	HP:0000506	Telecanthus
546	ATRX	HP:0000508	Ptosis
546	ATRX	HP:0000582	Upslanted palpebral fissure
546	ATRX	HP:0000577	Exotropia
546	ATRX	HP:0001892	Abnormal bleeding
546	ATRX	HP:0001891	Iron deficiency anemia
546	ATRX	HP:0001888	Lymphopenia
546	ATRX	HP:0001884	Talipes calcaneovalgus
546	ATRX	HP:0001871	Abnormality of blood and blood-forming tissues
546	ATRX	HP:0001873	Thrombocytopenia
546	ATRX	HP:0000545	Myopia
546	ATRX	HP:0001875	Neutropenia
547	KIF1A	HP:0001182	Tapered finger
547	KIF1A	HP:0008572	External ear malformation
547	KIF1A	HP:0010864	Intellectual disability, severe
547	KIF1A	HP:0007210	Lower limb amyotrophy
547	KIF1A	HP:0001290	Generalized hypotonia
547	KIF1A	HP:0001272	Cerebellar atrophy
547	KIF1A	HP:0001284	Areflexia
547	KIF1A	HP:0001250	Seizure
547	KIF1A	HP:0001252	Hypotonia
547	KIF1A	HP:0001251	Ataxia
547	KIF1A	HP:0001249	Intellectual disability
547	KIF1A	HP:0001265	Hyporeflexia
547	KIF1A	HP:0001263	Global developmental delay
547	KIF1A	HP:0001258	Spastic paraplegia
547	KIF1A	HP:0001257	Spasticity
547	KIF1A	HP:0007366	Atrophy/Degeneration affecting the brainstem
547	KIF1A	HP:0007340	Lower limb muscle weakness
547	KIF1A	HP:0002540	Inability to walk
547	KIF1A	HP:0002521	Hypsarrhythmia
547	KIF1A	HP:0002522	Areflexia of lower limbs
547	KIF1A	HP:0001376	Limitation of joint mobility
547	KIF1A	HP:0001371	Flexion contracture
547	KIF1A	HP:0001347	Hyperreflexia
547	KIF1A	HP:0008872	Feeding difficulties in infancy
547	KIF1A	HP:0007460	Autoamputation of digits
547	KIF1A	HP:0006121	Acral ulceration
547	KIF1A	HP:0002661	Painless fractures due to injury
547	KIF1A	HP:0001344	Absent speech
547	KIF1A	HP:0000007	Autosomal recessive inheritance
547	KIF1A	HP:0000006	Autosomal dominant inheritance
547	KIF1A	HP:0033748	Hypoesthesia
547	KIF1A	HP:0001310	Dysmetria
547	KIF1A	HP:0002645	Wormian bones
547	KIF1A	HP:0000194	Open mouth
547	KIF1A	HP:0000177	Abnormal upper lip morphology
547	KIF1A	HP:0000174	Abnormal palate morphology
547	KIF1A	HP:0002797	Osteolysis
547	KIF1A	HP:0008969	Leg muscle stiffness
547	KIF1A	HP:0008954	Intrinsic hand muscle atrophy
547	KIF1A	HP:0008936	Axial hypotonia
547	KIF1A	HP:0002020	Gastroesophageal reflux
547	KIF1A	HP:0003307	Hyperlordosis
547	KIF1A	HP:0011800	Midface retrusion
547	KIF1A	HP:0100540	Palpebral edema
547	KIF1A	HP:0002064	Spastic gait
547	KIF1A	HP:0002061	Lower limb spasticity
547	KIF1A	HP:0002059	Cerebral atrophy
547	KIF1A	HP:0003380	Decreased number of peripheral myelinated nerve fibers
547	KIF1A	HP:0005930	Abnormal epiphysis morphology
547	KIF1A	HP:0003477	Peripheral axonal neuropathy
547	KIF1A	HP:0003474	Somatic sensory dysfunction
547	KIF1A	HP:0003487	Babinski sign
547	KIF1A	HP:0002120	Cerebral cortical atrophy
547	KIF1A	HP:0002119	Ventriculomegaly
547	KIF1A	HP:0003448	Decreased sensory nerve conduction velocity
547	KIF1A	HP:0002132	Porencephalic cyst
547	KIF1A	HP:0003593	Infantile onset
547	KIF1A	HP:0003577	Congenital onset
547	KIF1A	HP:0100704	Cerebral visual impairment
547	KIF1A	HP:0002205	Recurrent respiratory infections
547	KIF1A	HP:0007020	Progressive spastic paraplegia
547	KIF1A	HP:0011968	Feeding difficulties
547	KIF1A	HP:0008391	Dystrophic fingernails
547	KIF1A	HP:0001069	Episodic hyperhidrosis
547	KIF1A	HP:0002395	Lower limb hyperreflexia
547	KIF1A	HP:0003693	Distal amyotrophy
547	KIF1A	HP:0003676	Progressive
547	KIF1A	HP:0002353	EEG abnormality
547	KIF1A	HP:0003677	Slowly progressive
547	KIF1A	HP:0002317	Unsteady gait
547	KIF1A	HP:0002329	Drowsiness
547	KIF1A	HP:0009830	Peripheral neuropathy
547	KIF1A	HP:0007141	Sensorimotor neuropathy
547	KIF1A	HP:0009771	Osteolytic defects of the phalanges of the hand
547	KIF1A	HP:0010741	Pedal edema
547	KIF1A	HP:0003621	Juvenile onset
547	KIF1A	HP:0006858	Impaired distal proprioception
547	KIF1A	HP:0006855	Cerebellar vermis atrophy
547	KIF1A	HP:0006829	Severe muscular hypotonia
547	KIF1A	HP:0006886	Impaired distal vibration sensation
547	KIF1A	HP:0000639	Nystagmus
547	KIF1A	HP:0000648	Optic atrophy
547	KIF1A	HP:0001939	Abnormality of metabolism/homeostasis
547	KIF1A	HP:0009053	Distal lower limb muscle weakness
547	KIF1A	HP:0009027	Foot dorsiflexor weakness
547	KIF1A	HP:0004322	Short stature
547	KIF1A	HP:0003028	Abnormality of the ankle
547	KIF1A	HP:0004349	Reduced bone mineral density
547	KIF1A	HP:0100022	Abnormality of movement
547	KIF1A	HP:0000762	Decreased nerve conduction velocity
547	KIF1A	HP:0000750	Delayed speech and language development
547	KIF1A	HP:0011448	Ankle clonus
547	KIF1A	HP:0004422	Biparietal narrowing
547	KIF1A	HP:0003103	Abnormal cortical bone morphology
547	KIF1A	HP:0003196	Short nose
547	KIF1A	HP:0003202	Skeletal muscle atrophy
547	KIF1A	HP:0003272	Abnormal hip bone morphology
547	KIF1A	HP:0008000	Decreased corneal reflex
547	KIF1A	HP:0100275	Diffuse cerebellar atrophy
547	KIF1A	HP:0000975	Hyperhidrosis
547	KIF1A	HP:0000970	Anhidrosis
547	KIF1A	HP:0034353	Appendicular spasticity
547	KIF1A	HP:0000286	Epicanthus
547	KIF1A	HP:0000293	Full cheeks
547	KIF1A	HP:0000272	Malar flattening
547	KIF1A	HP:0002815	Abnormality of the knee
547	KIF1A	HP:0002804	Arthrogryposis multiplex congenita
547	KIF1A	HP:0000238	Hydrocephalus
547	KIF1A	HP:0000252	Microcephaly
547	KIF1A	HP:0000212	Gingival overgrowth
547	KIF1A	HP:0000224	Hypogeusia
547	KIF1A	HP:0002839	Urinary bladder sphincter dysfunction
547	KIF1A	HP:0012398	Peripheral edema
547	KIF1A	HP:0002936	Distal sensory impairment
547	KIF1A	HP:0000400	Macrotia
547	KIF1A	HP:0012469	Infantile spasms
547	KIF1A	HP:0000496	Abnormality of eye movement
547	KIF1A	HP:0000463	Anteverted nares
547	KIF1A	HP:0012407	Scissor gait
547	KIF1A	HP:0001762	Talipes equinovarus
547	KIF1A	HP:0001842	Foot acroosteolysis
547	KIF1A	HP:0001818	Paronychia
547	KIF1A	HP:0001810	Dystrophic toenail
547	KIF1A	HP:0000572	Visual loss
547	KIF1A	HP:0000570	Abnormal saccadic eye movements
549	AUH	HP:0001270	Motor delay
549	AUH	HP:0001285	Spastic tetraparesis
549	AUH	HP:0001250	Seizure
549	AUH	HP:0001251	Ataxia
549	AUH	HP:0001260	Dysarthria
549	AUH	HP:0001263	Global developmental delay
549	AUH	HP:0001257	Spasticity
549	AUH	HP:0001259	Coma
549	AUH	HP:0002510	Spastic tetraplegia
549	AUH	HP:0002500	Abnormal cerebral white matter morphology
549	AUH	HP:0000020	Urinary incontinence
549	AUH	HP:0001347	Hyperreflexia
549	AUH	HP:0001332	Dystonia
549	AUH	HP:0000007	Autosomal recessive inheritance
549	AUH	HP:0100543	Cognitive impairment
549	AUH	HP:0002073	Progressive cerebellar ataxia
549	AUH	HP:0002059	Cerebral atrophy
549	AUH	HP:0002134	Abnormal basal ganglia morphology
549	AUH	HP:0003593	Infantile onset
549	AUH	HP:0002240	Hepatomegaly
549	AUH	HP:0003581	Adult onset
549	AUH	HP:0003535	3-Methylglutaconic aciduria
549	AUH	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
549	AUH	HP:0002352	Leukoencephalopathy
549	AUH	HP:0002305	Athetosis
549	AUH	HP:0000648	Optic atrophy
549	AUH	HP:0001943	Hypoglycemia
549	AUH	HP:0001942	Metabolic acidosis
549	AUH	HP:0000736	Short attention span
549	AUH	HP:0000750	Delayed speech and language development
549	AUH	HP:0000742	Self-mutilation
549	AUH	HP:0000726	Dementia
549	AUH	HP:0000252	Microcephaly
549	AUH	HP:0001508	Failure to thrive
551	AVP	HP:0001254	Lethargy
551	AVP	HP:0000006	Autosomal dominant inheritance
551	AVP	HP:0002014	Diarrhea
551	AVP	HP:0002013	Vomiting
551	AVP	HP:0002171	Gliosis
551	AVP	HP:0001945	Fever
551	AVP	HP:0001959	Polydipsia
551	AVP	HP:0000737	Irritability
551	AVP	HP:0003196	Short nose
551	AVP	HP:0000873	Diabetes insipidus
551	AVP	HP:0000863	Central diabetes insipidus
551	AVP	HP:0000938	Osteopenia
551	AVP	HP:0001510	Growth delay
551	AVP	HP:0031429	Decreased circulating osteocalcin level
551	AVP	HP:0000343	Long philtrum
551	AVP	HP:0000316	Hypertelorism
551	AVP	HP:0000445	Wide nose
551	AVP	HP:0001824	Weight loss
554	AVPR2	HP:0001250	Seizure
554	AVPR2	HP:0001249	Intellectual disability
554	AVPR2	HP:0001263	Global developmental delay
554	AVPR2	HP:0000083	Renal insufficiency
554	AVPR2	HP:0000072	Hydroureter
554	AVPR2	HP:0000021	Megacystis
554	AVPR2	HP:0008872	Feeding difficulties in infancy
554	AVPR2	HP:0000009	Functional abnormality of the bladder
554	AVPR2	HP:0012101	Decreased serum creatinine
554	AVPR2	HP:0000103	Polyuria
554	AVPR2	HP:0001419	X-linked recessive inheritance
554	AVPR2	HP:0003351	Decreased circulating renin level
554	AVPR2	HP:0002019	Constipation
554	AVPR2	HP:0002017	Nausea and vomiting
554	AVPR2	HP:0002013	Vomiting
554	AVPR2	HP:0002039	Anorexia
554	AVPR2	HP:0002197	Generalized-onset seizure
554	AVPR2	HP:0003593	Infantile onset
554	AVPR2	HP:0003577	Congenital onset
554	AVPR2	HP:0010677	Enuresis nocturna
554	AVPR2	HP:0011968	Feeding difficulties
554	AVPR2	HP:0009806	Nephrogenic diabetes insipidus
554	AVPR2	HP:0003623	Neonatal onset
554	AVPR2	HP:0004906	Hypernatremic dehydration
554	AVPR2	HP:0012605	Hypernatriuria
554	AVPR2	HP:0001945	Fever
554	AVPR2	HP:0001959	Polydipsia
554	AVPR2	HP:0001955	Unexplained fevers
554	AVPR2	HP:0001986	Hypertonic dehydration
554	AVPR2	HP:0004322	Short stature
554	AVPR2	HP:0031969	Reduced blood urea nitrogen
554	AVPR2	HP:0000737	Irritability
554	AVPR2	HP:0004421	Elevated systolic blood pressure
554	AVPR2	HP:0003158	Hyposthenuria
554	AVPR2	HP:0000873	Diabetes insipidus
554	AVPR2	HP:0040085	Abnormal circulating aldosterone
554	AVPR2	HP:0003228	Hypernatremia
554	AVPR2	HP:0001561	Polyhydramnios
554	AVPR2	HP:0001508	Failure to thrive
554	AVPR2	HP:0001510	Growth delay
554	AVPR2	HP:0002902	Hyponatremia
554	AVPR2	HP:0011106	Hypovolemia
558	AXL	HP:0008734	Decreased testicular size
558	AXL	HP:0000044	Hypogonadotropic hypogonadism
558	AXL	HP:0000054	Micropenis
558	AXL	HP:0000028	Cryptorchidism
558	AXL	HP:0000007	Autosomal recessive inheritance
558	AXL	HP:0002215	Sparse axillary hair
558	AXL	HP:0002225	Sparse pubic hair
558	AXL	HP:0003621	Juvenile onset
558	AXL	HP:0000771	Gynecomastia
558	AXL	HP:0000789	Infertility
558	AXL	HP:0000786	Primary amenorrhea
558	AXL	HP:0004408	Abnormality of the sense of smell
567	B2M	HP:0410243	Abnormal circulating IgM level
567	B2M	HP:0410240	Abnormal circulating IgA level
567	B2M	HP:0410299	Decreased specific antibody response to polysaccharide vaccine
567	B2M	HP:0010976	B lymphocytopenia
567	B2M	HP:0033670	Organizing pneumonia
567	B2M	HP:0000093	Proteinuria
567	B2M	HP:0012065	Multiple bony cystic lesions
567	B2M	HP:0001396	Cholestasis
567	B2M	HP:0025347	Decreased circulating beta-2-microglobulin level
567	B2M	HP:0000007	Autosomal recessive inheritance
567	B2M	HP:0000006	Autosomal dominant inheritance
567	B2M	HP:0012185	Constrictive median neuropathy
567	B2M	HP:0000157	Abnormality of the tongue
567	B2M	HP:0001482	Subcutaneous nodule
567	B2M	HP:0000100	Nephrotic syndrome
567	B2M	HP:0002756	Pathologic fracture
567	B2M	HP:0000112	Nephropathy
567	B2M	HP:0003365	Arthralgia of the hip
567	B2M	HP:0011805	Abnormal skeletal muscle morphology
567	B2M	HP:0002110	Bronchiectasis
567	B2M	HP:0011915	Cardiovascular calcification
567	B2M	HP:0002176	Spinal cord compression
567	B2M	HP:0002240	Hepatomegaly
567	B2M	HP:0002205	Recurrent respiratory infections
567	B2M	HP:0025015	Abnormal vascular morphology
567	B2M	HP:0009830	Peripheral neuropathy
567	B2M	HP:0025044	Lung abscess
567	B2M	HP:0007141	Sensorimotor neuropathy
567	B2M	HP:0003621	Juvenile onset
567	B2M	HP:0012622	Chronic kidney disease
567	B2M	HP:0001917	Renal amyloidosis
567	B2M	HP:0012664	Reduced left ventricular ejection fraction
567	B2M	HP:0004315	Decreased circulating IgG level
567	B2M	HP:0003075	Hypoproteinemia
567	B2M	HP:0003073	Hypoalbuminemia
567	B2M	HP:0003022	Hypoplasia of the ulna
567	B2M	HP:0000790	Hematuria
567	B2M	HP:0000822	Hypertension
567	B2M	HP:0010286	Abnormal salivary gland morphology
567	B2M	HP:0003216	Generalized amyloid deposition
567	B2M	HP:0040218	Reduced natural killer cell count
567	B2M	HP:0030839	Knee pain
567	B2M	HP:0030836	Wrist pain
567	B2M	HP:0030834	Shoulder pain
567	B2M	HP:0030843	Cardiac amyloidosis
567	B2M	HP:0000988	Skin rash
567	B2M	HP:0000969	Edema
567	B2M	HP:0100292	Amyloidosis of peripheral nerves
567	B2M	HP:0012280	Hepatic amyloidosis
567	B2M	HP:0031368	Intestinal perforation
567	B2M	HP:0005244	Gastrointestinal infarctions
567	B2M	HP:0012332	Abnormal autonomic nervous system physiology
567	B2M	HP:0012309	Cutaneous amyloidosis
567	B2M	HP:0002986	Radial bowing
567	B2M	HP:0001744	Splenomegaly
567	B2M	HP:0025708	Early young adult onset
570	BAAT	HP:0001399	Hepatic failure
570	BAAT	HP:0000007	Autosomal recessive inheritance
570	BAAT	HP:0002748	Rickets
570	BAAT	HP:0003593	Infantile onset
570	BAAT	HP:0002240	Hepatomegaly
570	BAAT	HP:0003621	Juvenile onset
570	BAAT	HP:0031956	Elevated circulating aspartate aminotransferase concentration
570	BAAT	HP:0031964	Elevated circulating alanine aminotransferase concentration
570	BAAT	HP:0011463	Childhood onset
570	BAAT	HP:0000952	Jaundice
570	BAAT	HP:0002908	Conjugated hyperbilirubinemia
579	NKX3-2	HP:0001270	Motor delay
579	NKX3-2	HP:0001288	Gait disturbance
579	NKX3-2	HP:0031096	Delayed vertebral ossification
579	NKX3-2	HP:0001371	Flexion contracture
579	NKX3-2	HP:0008788	Delayed pubic bone ossification
579	NKX3-2	HP:0000007	Autosomal recessive inheritance
579	NKX3-2	HP:0002650	Scoliosis
579	NKX3-2	HP:0002751	Kyphoscoliosis
579	NKX3-2	HP:0003316	Butterfly vertebrae
579	NKX3-2	HP:0003418	Back pain
579	NKX3-2	HP:0009623	Proximal placement of thumb
579	NKX3-2	HP:0010580	Enlarged epiphyses
579	NKX3-2	HP:0003577	Congenital onset
579	NKX3-2	HP:0003521	Disproportionate short-trunk short stature
579	NKX3-2	HP:0004288	Pseudoepiphyses of hand bones
579	NKX3-2	HP:0005659	Thoracic kyphoscoliosis
579	NKX3-2	HP:0003025	Metaphyseal irregularity
579	NKX3-2	HP:0000768	Pectus carinatum
579	NKX3-2	HP:0000773	Short ribs
579	NKX3-2	HP:0100255	Metaphyseal dysplasia
579	NKX3-2	HP:0000946	Hypoplastic ilia
579	NKX3-2	HP:0000256	Macrocephaly
579	NKX3-2	HP:0002812	Coxa vara
579	NKX3-2	HP:0002827	Hip dislocation
579	NKX3-2	HP:0000238	Hydrocephalus
579	NKX3-2	HP:0000252	Microcephaly
579	NKX3-2	HP:0002857	Genu valgum
579	NKX3-2	HP:0001538	Protuberant abdomen
579	NKX3-2	HP:0002866	Hypoplastic iliac wing
579	NKX3-2	HP:0001518	Small for gestational age
579	NKX3-2	HP:0000316	Hypertelorism
579	NKX3-2	HP:0002970	Genu varum
579	NKX3-2	HP:0000470	Short neck
579	NKX3-2	HP:0001762	Talipes equinovarus
579	NKX3-2	HP:0001847	Long hallux
580	BARD1	HP:0000006	Autosomal dominant inheritance
580	BARD1	HP:0012125	Prostate cancer
580	BARD1	HP:0001428	Somatic mutation
580	BARD1	HP:0100615	Ovarian neoplasm
580	BARD1	HP:0003002	Breast carcinoma
580	BARD1	HP:0002894	Neoplasm of the pancreas
580	BARD1	HP:0002861	Melanoma
580	BARD1	HP:0011027	Abnormal fallopian tube morphology
580	BARD1	HP:0030406	Primary peritoneal carcinoma
581	BAX	HP:0010982	Polygenic inheritance
581	BAX	HP:0000006	Autosomal dominant inheritance
581	BAX	HP:0001428	Somatic mutation
581	BAX	HP:0005584	Renal cell carcinoma
581	BAX	HP:0002891	Uterine leiomyosarcoma
581	BAX	HP:0006753	Neoplasm of the stomach
581	BAX	HP:0006740	Transitional cell carcinoma of the bladder
581	BAX	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
581	BAX	HP:0006721	Acute lymphoblastic leukemia
582	BBS1	HP:0001156	Brachydactyly
582	BBS1	HP:0001162	Postaxial hand polydactyly
582	BBS1	HP:0001159	Syndactyly
582	BBS1	HP:0001251	Ataxia
582	BBS1	HP:0001249	Intellectual disability
582	BBS1	HP:0001263	Global developmental delay
582	BBS1	HP:0006101	Finger syndactyly
582	BBS1	HP:0008734	Decreased testicular size
582	BBS1	HP:0008736	Hypoplasia of penis
582	BBS1	HP:0008724	Hypoplasia of the ovary
582	BBS1	HP:0001395	Hepatic fibrosis
582	BBS1	HP:0000077	Abnormality of the kidney
582	BBS1	HP:0000054	Micropenis
582	BBS1	HP:0001347	Hyperreflexia
582	BBS1	HP:0000035	Abnormal testis morphology
582	BBS1	HP:0000028	Cryptorchidism
582	BBS1	HP:0001328	Specific learning disability
582	BBS1	HP:0000007	Autosomal recessive inheritance
582	BBS1	HP:0000003	Multicystic kidney dysplasia
582	BBS1	HP:0000135	Hypogonadism
582	BBS1	HP:0000137	Abnormality of the ovary
582	BBS1	HP:0000148	Vaginal atresia
582	BBS1	HP:0007675	Progressive night blindness
582	BBS1	HP:0007663	Reduced visual acuity
582	BBS1	HP:0002705	High, narrow palate
582	BBS1	HP:0000100	Nephrotic syndrome
582	BBS1	HP:0005978	Type II diabetes mellitus
582	BBS1	HP:0002099	Asthma
582	BBS1	HP:0009466	Radial deviation of finger
582	BBS1	HP:0002141	Gait imbalance
582	BBS1	HP:0002167	Abnormality of speech or vocalization
582	BBS1	HP:0003577	Congenital onset
582	BBS1	HP:0002251	Aganglionic megacolon
582	BBS1	HP:0002230	Generalized hirsutism
582	BBS1	HP:0002370	Poor coordination
582	BBS1	HP:0001007	Hirsutism
582	BBS1	HP:0009806	Nephrogenic diabetes insipidus
582	BBS1	HP:0001080	Biliary tract abnormality
582	BBS1	HP:0010747	Medial flaring of the eyebrow
582	BBS1	HP:0000639	Nystagmus
582	BBS1	HP:0000648	Optic atrophy
582	BBS1	HP:0000618	Blindness
582	BBS1	HP:0000613	Photophobia
582	BBS1	HP:0001956	Truncal obesity
582	BBS1	HP:0000602	Ophthalmoplegia
582	BBS1	HP:0000678	Dental crowding
582	BBS1	HP:0000662	Nyctalopia
582	BBS1	HP:0000668	Hypodontia
582	BBS1	HP:0004322	Short stature
582	BBS1	HP:0030631	Hyperautofluorescent macular lesion
582	BBS1	HP:0012743	Abdominal obesity
582	BBS1	HP:0000750	Delayed speech and language development
582	BBS1	HP:0000855	Insulin resistance
582	BBS1	HP:0000842	Hyperinsulinemia
582	BBS1	HP:0000819	Diabetes mellitus
582	BBS1	HP:0000822	Hypertension
582	BBS1	HP:0003202	Skeletal muscle atrophy
582	BBS1	HP:0100259	Postaxial polydactyly
582	BBS1	HP:0000987	Atypical scarring of skin
582	BBS1	HP:0008046	Abnormal retinal vascular morphology
582	BBS1	HP:0007703	Abnormality of retinal pigmentation
582	BBS1	HP:0000256	Macrocephaly
582	BBS1	HP:0007737	Bone spicule pigmentation of the retina
582	BBS1	HP:0000218	High palate
582	BBS1	HP:0001513	Obesity
582	BBS1	HP:0007843	Attenuation of retinal blood vessels
582	BBS1	HP:0012393	Allergy
582	BBS1	HP:0000365	Hearing impairment
582	BBS1	HP:0000368	Low-set, posteriorly rotated ears
582	BBS1	HP:0007994	Peripheral visual field loss
582	BBS1	HP:0000407	Sensorineural hearing impairment
582	BBS1	HP:0000405	Conductive hearing impairment
582	BBS1	HP:0001712	Left ventricular hypertrophy
582	BBS1	HP:0000483	Astigmatism
582	BBS1	HP:0000486	Strabismus
582	BBS1	HP:0000494	Downslanted palpebral fissures
582	BBS1	HP:0000463	Anteverted nares
582	BBS1	HP:0000470	Short neck
582	BBS1	HP:0001773	Short foot
582	BBS1	HP:0001769	Broad foot
582	BBS1	HP:0000431	Wide nasal bridge
582	BBS1	HP:0000426	Prominent nasal bridge
582	BBS1	HP:0000518	Cataract
582	BBS1	HP:0000510	Rod-cone dystrophy
582	BBS1	HP:0000512	Abnormal electroretinogram
582	BBS1	HP:0001829	Foot polydactyly
582	BBS1	HP:0000505	Visual impairment
582	BBS1	HP:0001830	Postaxial foot polydactyly
582	BBS1	HP:0000501	Glaucoma
582	BBS1	HP:0000580	Pigmentary retinopathy
582	BBS1	HP:0000563	Keratoconus
582	BBS1	HP:0000556	Retinal dystrophy
582	BBS1	HP:0000546	Retinal degeneration
582	BBS1	HP:0000545	Myopia
583	BBS2	HP:0001162	Postaxial hand polydactyly
583	BBS2	HP:0001133	Constriction of peripheral visual field
583	BBS2	HP:0001115	Posterior polar cataract
583	BBS2	HP:0001249	Intellectual disability
583	BBS2	HP:0001263	Global developmental delay
583	BBS2	HP:0006101	Finger syndactyly
583	BBS2	HP:0008736	Hypoplasia of penis
583	BBS2	HP:0008724	Hypoplasia of the ovary
583	BBS2	HP:0001395	Hepatic fibrosis
583	BBS2	HP:0001347	Hyperreflexia
583	BBS2	HP:0000035	Abnormal testis morphology
583	BBS2	HP:0000028	Cryptorchidism
583	BBS2	HP:0000007	Autosomal recessive inheritance
583	BBS2	HP:0000003	Multicystic kidney dysplasia
583	BBS2	HP:0000135	Hypogonadism
583	BBS2	HP:0007675	Progressive night blindness
583	BBS2	HP:0007663	Reduced visual acuity
583	BBS2	HP:0000100	Nephrotic syndrome
583	BBS2	HP:0005978	Type II diabetes mellitus
583	BBS2	HP:0010442	Polydactyly
583	BBS2	HP:0002167	Abnormality of speech or vocalization
583	BBS2	HP:0003596	Middle age onset
583	BBS2	HP:0003584	Late onset
583	BBS2	HP:0002230	Generalized hirsutism
583	BBS2	HP:0010747	Medial flaring of the eyebrow
583	BBS2	HP:0000639	Nystagmus
583	BBS2	HP:0000648	Optic atrophy
583	BBS2	HP:0000618	Blindness
583	BBS2	HP:0000613	Photophobia
583	BBS2	HP:0000602	Ophthalmoplegia
583	BBS2	HP:0004322	Short stature
583	BBS2	HP:0011463	Childhood onset
583	BBS2	HP:0011462	Young adult onset
583	BBS2	HP:0000842	Hyperinsulinemia
583	BBS2	HP:0000819	Diabetes mellitus
583	BBS2	HP:0000822	Hypertension
583	BBS2	HP:0003241	External genital hypoplasia
583	BBS2	HP:0003202	Skeletal muscle atrophy
583	BBS2	HP:0000987	Atypical scarring of skin
583	BBS2	HP:0008046	Abnormal retinal vascular morphology
583	BBS2	HP:0007703	Abnormality of retinal pigmentation
583	BBS2	HP:0012210	Abnormal renal morphology
583	BBS2	HP:0001513	Obesity
583	BBS2	HP:0000365	Hearing impairment
583	BBS2	HP:0000368	Low-set, posteriorly rotated ears
583	BBS2	HP:0001647	Bicuspid aortic valve
583	BBS2	HP:0001644	Dilated cardiomyopathy
583	BBS2	HP:0001631	Atrial septal defect
583	BBS2	HP:0000407	Sensorineural hearing impairment
583	BBS2	HP:0000405	Conductive hearing impairment
583	BBS2	HP:0000494	Downslanted palpebral fissures
583	BBS2	HP:0000463	Anteverted nares
583	BBS2	HP:0000470	Short neck
583	BBS2	HP:0000431	Wide nasal bridge
583	BBS2	HP:0000426	Prominent nasal bridge
583	BBS2	HP:0000518	Cataract
583	BBS2	HP:0000510	Rod-cone dystrophy
583	BBS2	HP:0000512	Abnormal electroretinogram
583	BBS2	HP:0000505	Visual impairment
583	BBS2	HP:0001830	Postaxial foot polydactyly
583	BBS2	HP:0000501	Glaucoma
583	BBS2	HP:0000580	Pigmentary retinopathy
583	BBS2	HP:0000563	Keratoconus
583	BBS2	HP:0000546	Retinal degeneration
583	BBS2	HP:0000543	Optic disc pallor
585	BBS4	HP:0001156	Brachydactyly
585	BBS4	HP:0001162	Postaxial hand polydactyly
585	BBS4	HP:0001159	Syndactyly
585	BBS4	HP:0001249	Intellectual disability
585	BBS4	HP:0006101	Finger syndactyly
585	BBS4	HP:0008736	Hypoplasia of penis
585	BBS4	HP:0008724	Hypoplasia of the ovary
585	BBS4	HP:0001395	Hepatic fibrosis
585	BBS4	HP:0000077	Abnormality of the kidney
585	BBS4	HP:0000028	Cryptorchidism
585	BBS4	HP:0000007	Autosomal recessive inheritance
585	BBS4	HP:0000003	Multicystic kidney dysplasia
585	BBS4	HP:0000164	Abnormality of the dentition
585	BBS4	HP:0000135	Hypogonadism
585	BBS4	HP:0000100	Nephrotic syndrome
585	BBS4	HP:0000107	Renal cyst
585	BBS4	HP:0010442	Polydactyly
585	BBS4	HP:0002167	Abnormality of speech or vocalization
585	BBS4	HP:0003577	Congenital onset
585	BBS4	HP:0002230	Generalized hirsutism
585	BBS4	HP:0010747	Medial flaring of the eyebrow
585	BBS4	HP:0000639	Nystagmus
585	BBS4	HP:0000662	Nyctalopia
585	BBS4	HP:0004322	Short stature
585	BBS4	HP:0000822	Hypertension
585	BBS4	HP:0003241	External genital hypoplasia
585	BBS4	HP:0003202	Skeletal muscle atrophy
585	BBS4	HP:0001513	Obesity
585	BBS4	HP:0000365	Hearing impairment
585	BBS4	HP:0000368	Low-set, posteriorly rotated ears
585	BBS4	HP:0000494	Downslanted palpebral fissures
585	BBS4	HP:0000470	Short neck
585	BBS4	HP:0000426	Prominent nasal bridge
585	BBS4	HP:0000510	Rod-cone dystrophy
585	BBS4	HP:0000512	Abnormal electroretinogram
585	BBS4	HP:0000580	Pigmentary retinopathy
585	BBS4	HP:0000546	Retinal degeneration
587	BCAT2	HP:0010913	Hyperisoleucinemia
587	BCAT2	HP:0010911	Hyperleucinemia
587	BCAT2	HP:0010910	Hypervalinemia
587	BCAT2	HP:0001348	Brisk reflexes
587	BCAT2	HP:0000007	Autosomal recessive inheritance
587	BCAT2	HP:0002315	Headache
587	BCAT2	HP:0031964	Elevated circulating alanine aminotransferase concentration
587	BCAT2	HP:0031993	Hoffmann sign
587	BCAT2	HP:0002922	Increased CSF protein concentration
590	BCHE	HP:0031035	Chronic infection
590	BCHE	HP:0001392	Abnormality of the liver
590	BCHE	HP:0002664	Neoplasm
590	BCHE	HP:0000007	Autosomal recessive inheritance
590	BCHE	HP:0003470	Paralysis
590	BCHE	HP:0002104	Apnea
590	BCHE	HP:0004887	Respiratory failure requiring assisted ventilation
590	BCHE	HP:0002878	Respiratory failure
590	BCHE	HP:0012379	Abnormal circulating enzyme concentration or activity
590	BCHE	HP:0001658	Myocardial infarction
590	BCHE	HP:0001635	Congestive heart failure
593	BCKDHA	HP:0001290	Generalized hypotonia
593	BCKDHA	HP:0001276	Hypertonia
593	BCKDHA	HP:0001254	Lethargy
593	BCKDHA	HP:0001250	Seizure
593	BCKDHA	HP:0001252	Hypotonia
593	BCKDHA	HP:0001251	Ataxia
593	BCKDHA	HP:0001249	Intellectual disability
593	BCKDHA	HP:0001259	Coma
593	BCKDHA	HP:0008872	Feeding difficulties in infancy
593	BCKDHA	HP:0000007	Autosomal recessive inheritance
593	BCKDHA	HP:0410066	Increased level of hippuric acid in urine
593	BCKDHA	HP:0002013	Vomiting
593	BCKDHA	HP:0033155	Elevated circulating L-alloisoleucine concentration
593	BCKDHA	HP:0002181	Cerebral edema
593	BCKDHA	HP:0008344	Elevated plasma branched chain amino acids
593	BCKDHA	HP:0001943	Hypoglycemia
593	BCKDHA	HP:0001946	Ketosis
593	BCKDHA	HP:0031796	Recurrent
593	BCKDHA	HP:0000738	Hallucinations
593	BCKDHA	HP:0003128	Lactic acidosis
593	BCKDHA	HP:0001507	Growth abnormality
593	BCKDHA	HP:0001733	Pancreatitis
594	BCKDHB	HP:0001290	Generalized hypotonia
594	BCKDHB	HP:0001276	Hypertonia
594	BCKDHB	HP:0001254	Lethargy
594	BCKDHB	HP:0001250	Seizure
594	BCKDHB	HP:0001252	Hypotonia
594	BCKDHB	HP:0001251	Ataxia
594	BCKDHB	HP:0001249	Intellectual disability
594	BCKDHB	HP:0001259	Coma
594	BCKDHB	HP:0008872	Feeding difficulties in infancy
594	BCKDHB	HP:0000007	Autosomal recessive inheritance
594	BCKDHB	HP:0410066	Increased level of hippuric acid in urine
594	BCKDHB	HP:0002013	Vomiting
594	BCKDHB	HP:0033155	Elevated circulating L-alloisoleucine concentration
594	BCKDHB	HP:0002181	Cerebral edema
594	BCKDHB	HP:0008344	Elevated plasma branched chain amino acids
594	BCKDHB	HP:0001943	Hypoglycemia
594	BCKDHB	HP:0001946	Ketosis
594	BCKDHB	HP:0031796	Recurrent
594	BCKDHB	HP:0000738	Hallucinations
594	BCKDHB	HP:0003128	Lactic acidosis
594	BCKDHB	HP:0001507	Growth abnormality
594	BCKDHB	HP:0001733	Pancreatitis
595	CCND1	HP:0001297	Stroke
595	CCND1	HP:0031047	Paraproteinemia
595	CCND1	HP:0002516	Increased intracranial pressure
595	CCND1	HP:0000098	Tall stature
595	CCND1	HP:0000014	Abnormality of the bladder
595	CCND1	HP:0002668	Paraganglioma
595	CCND1	HP:0000006	Autosomal dominant inheritance
595	CCND1	HP:0002666	Pheochromocytoma
595	CCND1	HP:0002653	Bone pain
595	CCND1	HP:0012191	B-cell lymphoma
595	CCND1	HP:0031207	Hepatic hemangioma
595	CCND1	HP:0000100	Nephrotic syndrome
595	CCND1	HP:0001428	Somatic mutation
595	CCND1	HP:0002756	Pathologic fracture
595	CCND1	HP:0000112	Nephropathy
595	CCND1	HP:0002716	Lymphadenopathy
595	CCND1	HP:0002027	Abdominal pain
595	CCND1	HP:0003334	Elevated circulating catecholamine level
595	CCND1	HP:0003324	Generalized muscle weakness
595	CCND1	HP:0005954	Pulmonary capillary hemangiomatosis
595	CCND1	HP:0002039	Anorexia
595	CCND1	HP:0003484	Upper limb muscle weakness
595	CCND1	HP:0002152	Hyperproteinemia
595	CCND1	HP:0003418	Back pain
595	CCND1	HP:0002176	Spinal cord compression
595	CCND1	HP:0003401	Paresthesia
595	CCND1	HP:0008261	Pancreatic islet cell adenoma
595	CCND1	HP:0003581	Adult onset
595	CCND1	HP:0002202	Pleural effusion
595	CCND1	HP:0009711	Retinal capillary hemangioma
595	CCND1	HP:0009713	Spinal hemangioblastoma
595	CCND1	HP:0009715	Papillary cystadenoma of the epididymis
595	CCND1	HP:0011976	Elevated urinary catecholamines
595	CCND1	HP:0002321	Vertigo
595	CCND1	HP:0002315	Headache
595	CCND1	HP:0001095	Hypertensive retinopathy
595	CCND1	HP:0001085	Papilledema
595	CCND1	HP:0009763	Limb pain
595	CCND1	HP:0005584	Renal cell carcinoma
595	CCND1	HP:0005562	Multiple renal cysts
595	CCND1	HP:0005561	Abnormality of bone marrow cell morphology
595	CCND1	HP:0006880	Cerebellar hemangioblastoma
595	CCND1	HP:0001962	Palpitations
595	CCND1	HP:0001945	Fever
595	CCND1	HP:0001903	Anemia
595	CCND1	HP:0001901	Polycythemia
595	CCND1	HP:0001919	Acute kidney injury
595	CCND1	HP:0009053	Distal lower limb muscle weakness
595	CCND1	HP:0004313	Decreased circulating antibody level
595	CCND1	HP:0003072	Hypercalcemia
595	CCND1	HP:0004341	Abnormality of vitamin B12 metabolism
595	CCND1	HP:0000739	Anxiety
595	CCND1	HP:0012719	Functional abnormality of the gastrointestinal tract
595	CCND1	HP:0011462	Young adult onset
595	CCND1	HP:0012819	Myocarditis
595	CCND1	HP:0000822	Hypertension
595	CCND1	HP:0040049	Macular edema
595	CCND1	HP:0003237	Increased circulating IgG level
595	CCND1	HP:0003261	Increased circulating IgA level
595	CCND1	HP:0003259	Elevated circulating creatinine concentration
595	CCND1	HP:0000980	Pallor
595	CCND1	HP:0000975	Hyperhidrosis
595	CCND1	HP:0000938	Osteopenia
595	CCND1	HP:0011675	Arrhythmia
595	CCND1	HP:0002894	Neoplasm of the pancreas
595	CCND1	HP:0002891	Uterine leiomyosarcoma
595	CCND1	HP:0012378	Fatigue
595	CCND1	HP:0011034	Amyloidosis
595	CCND1	HP:0005162	Abnormal left ventricular function
595	CCND1	HP:0000360	Tinnitus
595	CCND1	HP:0011024	Abnormality of the gastrointestinal tract
595	CCND1	HP:0001658	Myocardial infarction
595	CCND1	HP:0002953	Vertebral compression fracture
595	CCND1	HP:0001638	Cardiomyopathy
595	CCND1	HP:0000407	Sensorineural hearing impairment
595	CCND1	HP:0001737	Pancreatic cysts
595	CCND1	HP:0000478	Abnormality of the eye
595	CCND1	HP:0001744	Splenomegaly
595	CCND1	HP:0006748	Adrenal pheochromocytoma
595	CCND1	HP:0006753	Neoplasm of the stomach
595	CCND1	HP:0006740	Transitional cell carcinoma of the bladder
595	CCND1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
595	CCND1	HP:0030405	Pancreatic endocrine tumor
595	CCND1	HP:0030424	Epididymal cyst
595	CCND1	HP:0006775	Multiple myeloma
595	CCND1	HP:0001824	Weight loss
595	CCND1	HP:0000572	Visual loss
595	CCND1	HP:0030393	Endolymphatic sac tumor
595	CCND1	HP:0000541	Retinal detachment
596	BCL2	HP:0001287	Meningitis
596	BCL2	HP:0002585	Abnormality of the peritoneum
596	BCL2	HP:0002665	Lymphoma
596	BCL2	HP:0002716	Lymphadenopathy
596	BCL2	HP:0002202	Pleural effusion
596	BCL2	HP:0100721	Mediastinal lymphadenopathy
596	BCL2	HP:0001004	Lymphedema
596	BCL2	HP:0200036	Skin nodule
596	BCL2	HP:0001945	Fever
596	BCL2	HP:0012378	Fatigue
596	BCL2	HP:0030166	Night sweats
596	BCL2	HP:0001744	Splenomegaly
596	BCL2	HP:0001824	Weight loss
604	BCL6	HP:0001287	Meningitis
604	BCL6	HP:0002585	Abnormality of the peritoneum
604	BCL6	HP:0002665	Lymphoma
604	BCL6	HP:0002716	Lymphadenopathy
604	BCL6	HP:0002202	Pleural effusion
604	BCL6	HP:0100721	Mediastinal lymphadenopathy
604	BCL6	HP:0001004	Lymphedema
604	BCL6	HP:0200036	Skin nodule
604	BCL6	HP:0001945	Fever
604	BCL6	HP:0012378	Fatigue
604	BCL6	HP:0030166	Night sweats
604	BCL6	HP:0001744	Splenomegaly
604	BCL6	HP:0001824	Weight loss
610	HCN2	HP:0000006	Autosomal dominant inheritance
610	HCN2	HP:0002069	Bilateral tonic-clonic seizure
610	HCN2	HP:0003593	Infantile onset
610	HCN2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
610	HCN2	HP:0010819	Atonic seizure
610	HCN2	HP:0010818	Generalized tonic seizure
611	OPN1SW	HP:0012043	Pendular nystagmus
611	OPN1SW	HP:0000006	Autosomal dominant inheritance
611	OPN1SW	HP:0007663	Reduced visual acuity
611	OPN1SW	HP:0007641	Dyschromatopsia
611	OPN1SW	HP:0008275	Abnormal light-adapted electroretinogram
611	OPN1SW	HP:0000613	Photophobia
611	OPN1SW	HP:0030584	Color vision test abnormality
611	OPN1SW	HP:0000479	Abnormal retinal morphology
611	OPN1SW	HP:0000552	Tritanomaly
611	OPN1SW	HP:0000551	Color vision defect
613	BCR	HP:0001166	Arachnodactyly
613	BCR	HP:0002463	Language impairment
613	BCR	HP:0009882	Short distal phalanx of finger
613	BCR	HP:0001250	Seizure
613	BCR	HP:0001249	Intellectual disability
613	BCR	HP:0001263	Global developmental delay
613	BCR	HP:0010982	Polygenic inheritance
613	BCR	HP:0002553	Highly arched eyebrow
613	BCR	HP:0000023	Inguinal hernia
613	BCR	HP:0002664	Neoplasm
613	BCR	HP:0000010	Recurrent urinary tract infections
613	BCR	HP:0002673	Coxa valga
613	BCR	HP:0002607	Bowel incontinence
613	BCR	HP:0000160	Narrow mouth
613	BCR	HP:0000175	Cleft palate
613	BCR	HP:0002705	High, narrow palate
613	BCR	HP:0001428	Somatic mutation
613	BCR	HP:0002721	Immunodeficiency
613	BCR	HP:0002021	Pyloric stenosis
613	BCR	HP:0003307	Hyperlordosis
613	BCR	HP:0009465	Ulnar deviation of finger
613	BCR	HP:0100490	Camptodactyly of finger
613	BCR	HP:0002205	Recurrent respiratory infections
613	BCR	HP:0007018	Attention deficit hyperactivity disorder
613	BCR	HP:0004852	Reduced leukocyte alkaline phosphatase
613	BCR	HP:0004848	Ph-positive acute lymphoblastic leukemia
613	BCR	HP:0009795	Branchial fistula
613	BCR	HP:0004942	Aortic aneurysm
613	BCR	HP:0004209	Clinodactyly of the 5th finger
613	BCR	HP:0005506	Chronic myelogenous leukemia
613	BCR	HP:0004279	Short palm
613	BCR	HP:0005547	Myeloproliferative disorder
613	BCR	HP:0001974	Leukocytosis
613	BCR	HP:0001945	Fever
613	BCR	HP:0001911	Abnormal granulocyte morphology
613	BCR	HP:0001912	Abnormal basophil morphology
613	BCR	HP:0000657	Oculomotor apraxia
613	BCR	HP:0004322	Short stature
613	BCR	HP:0004396	Poor appetite
613	BCR	HP:0005692	Joint hyperflexibility
613	BCR	HP:0100033	Tics
613	BCR	HP:0000716	Depression
613	BCR	HP:0000722	Compulsive behaviors
613	BCR	HP:0010296	Ankyloglossia
613	BCR	HP:0000276	Long face
613	BCR	HP:0000272	Malar flattening
613	BCR	HP:0000252	Microcephaly
613	BCR	HP:0000219	Thin upper lip vermilion
613	BCR	HP:0001511	Intrauterine growth retardation
613	BCR	HP:0001510	Growth delay
613	BCR	HP:0012378	Fatigue
613	BCR	HP:0006487	Bowing of the long bones
613	BCR	HP:0000363	Abnormal earlobe morphology
613	BCR	HP:0000319	Smooth philtrum
613	BCR	HP:0001660	Truncus arteriosus
613	BCR	HP:0001659	Aortic regurgitation
613	BCR	HP:0000324	Facial asymmetry
613	BCR	HP:0001629	Ventricular septal defect
613	BCR	HP:0001622	Premature birth
613	BCR	HP:0000307	Pointed chin
613	BCR	HP:0001631	Atrial septal defect
613	BCR	HP:0000407	Sensorineural hearing impairment
613	BCR	HP:0000490	Deeply set eye
613	BCR	HP:0001770	Toe syndactyly
613	BCR	HP:0001763	Pes planus
613	BCR	HP:0000453	Choanal atresia
613	BCR	HP:0001744	Splenomegaly
613	BCR	HP:0000430	Underdeveloped nasal alae
613	BCR	HP:0000426	Prominent nasal bridge
613	BCR	HP:0006721	Acute lymphoblastic leukemia
613	BCR	HP:0001852	Sandal gap
613	BCR	HP:0001802	Absent toenail
613	BCR	HP:0001817	Absent fingernail
613	BCR	HP:0000581	Blepharophimosis
613	BCR	HP:0001894	Thrombocytosis
613	BCR	HP:0001871	Abnormality of blood and blood-forming tissues
613	BCR	HP:0001873	Thrombocytopenia
617	BCS1L	HP:0003777	Pili torti
617	BCS1L	HP:0001290	Generalized hypotonia
617	BCS1L	HP:0001272	Cerebellar atrophy
617	BCS1L	HP:0001250	Seizure
617	BCS1L	HP:0001252	Hypotonia
617	BCS1L	HP:0001251	Ataxia
617	BCS1L	HP:0001249	Intellectual disability
617	BCS1L	HP:0001263	Global developmental delay
617	BCS1L	HP:0001257	Spasticity
617	BCS1L	HP:0003811	Neonatal death
617	BCS1L	HP:0001397	Hepatic steatosis
617	BCS1L	HP:0001396	Cholestasis
617	BCS1L	HP:0001394	Cirrhosis
617	BCS1L	HP:0001347	Hyperreflexia
617	BCS1L	HP:0008872	Feeding difficulties in infancy
617	BCS1L	HP:0001324	Muscle weakness
617	BCS1L	HP:0000007	Autosomal recessive inheritance
617	BCS1L	HP:0001319	Neonatal hypotonia
617	BCS1L	HP:0000135	Hypogonadism
617	BCS1L	HP:0008936	Axial hypotonia
617	BCS1L	HP:0001427	Mitochondrial inheritance
617	BCS1L	HP:0001410	Decreased liver function
617	BCS1L	HP:0001405	Periportal fibrosis
617	BCS1L	HP:0001414	Microvesicular hepatic steatosis
617	BCS1L	HP:0003355	Aminoaciduria
617	BCS1L	HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
617	BCS1L	HP:0030948	Elevated gamma-glutamyltransferase level
617	BCS1L	HP:0002059	Cerebral atrophy
617	BCS1L	HP:0002151	Increased serum lactate
617	BCS1L	HP:0003452	Increased serum iron
617	BCS1L	HP:0011924	Decreased activity of mitochondrial complex III
617	BCS1L	HP:0002188	Delayed CNS myelination
617	BCS1L	HP:0002171	Gliosis
617	BCS1L	HP:0003593	Infantile onset
617	BCS1L	HP:0003577	Congenital onset
617	BCS1L	HP:0003546	Exercise intolerance
617	BCS1L	HP:0003542	Increased serum pyruvate
617	BCS1L	HP:0002208	Coarse hair
617	BCS1L	HP:0002299	Brittle hair
617	BCS1L	HP:0002353	EEG abnormality
617	BCS1L	HP:0003648	Lacticaciduria
617	BCS1L	HP:0100613	Death in early adulthood
617	BCS1L	HP:0004925	Chronic lactic acidosis
617	BCS1L	HP:0004900	Severe lactic acidosis
617	BCS1L	HP:0001970	Tubulointerstitial nephritis
617	BCS1L	HP:0001943	Hypoglycemia
617	BCS1L	HP:0001942	Metabolic acidosis
617	BCS1L	HP:0011359	Dry hair
617	BCS1L	HP:0001988	Recurrent hypoglycemia
617	BCS1L	HP:0001994	Renal Fanconi syndrome
617	BCS1L	HP:0003074	Hyperglycemia
617	BCS1L	HP:0000738	Hallucinations
617	BCS1L	HP:0000716	Depression
617	BCS1L	HP:0000712	Emotional lability
617	BCS1L	HP:0003155	Elevated circulating alkaline phosphatase concentration
617	BCS1L	HP:0003128	Lactic acidosis
617	BCS1L	HP:0003231	Hypertyrosinemia
617	BCS1L	HP:0003200	Ragged-red muscle fibers
617	BCS1L	HP:0003201	Rhabdomyolysis
617	BCS1L	HP:0003281	Increased circulating ferritin concentration
617	BCS1L	HP:0000970	Anhidrosis
617	BCS1L	HP:0001596	Alopecia
617	BCS1L	HP:0032653	Elevated lactate:pyruvate ratio
617	BCS1L	HP:0001508	Failure to thrive
617	BCS1L	HP:0001511	Intrauterine growth retardation
617	BCS1L	HP:0006558	Decreased mitochondrial complex III activity in liver tissue
617	BCS1L	HP:0002910	Elevated hepatic transaminase
617	BCS1L	HP:0000365	Hearing impairment
617	BCS1L	HP:0030151	Cholangitis
617	BCS1L	HP:0001639	Hypertrophic cardiomyopathy
617	BCS1L	HP:0000407	Sensorineural hearing impairment
617	BCS1L	HP:0012464	Decreased transferrin saturation
617	BCS1L	HP:0012465	Elevated hepatic iron concentration
617	BCS1L	HP:0006789	Mitochondrial encephalopathy
617	BCS1L	HP:0000518	Cataract
617	BCS1L	HP:0000510	Rod-cone dystrophy
617	BCS1L	HP:0000508	Ptosis
627	BDNF	HP:0007299	Dysfunction of lateral corticospinal tracts
627	BDNF	HP:0001250	Seizure
627	BDNF	HP:0001252	Hypotonia
627	BDNF	HP:0001249	Intellectual disability
627	BDNF	HP:0000062	Ambiguous genitalia
627	BDNF	HP:0000028	Cryptorchidism
627	BDNF	HP:0002650	Scoliosis
627	BDNF	HP:0100543	Cognitive impairment
627	BDNF	HP:0002093	Respiratory insufficiency
627	BDNF	HP:0002270	Abnormality of the autonomic nervous system
627	BDNF	HP:0002251	Aganglionic megacolon
627	BDNF	HP:0100627	Displacement of the urethral meatus
627	BDNF	HP:0000639	Nystagmus
627	BDNF	HP:0004322	Short stature
627	BDNF	HP:0003005	Ganglioneuroma
627	BDNF	HP:0003006	Neuroblastoma
627	BDNF	HP:0100006	Neoplasm of the central nervous system
627	BDNF	HP:0008053	Aplasia/Hypoplasia of the iris
627	BDNF	HP:0000252	Microcephaly
627	BDNF	HP:0000232	Everted lower lip vermilion
627	BDNF	HP:0001513	Obesity
627	BDNF	HP:0000364	Hearing abnormality
627	BDNF	HP:0000347	Micrognathia
627	BDNF	HP:0006747	Ganglioneuroblastoma
627	BDNF	HP:0000518	Cataract
627	BDNF	HP:0000508	Ptosis
627	BDNF	HP:0000505	Visual impairment
627	BDNF	HP:0000501	Glaucoma
629	CFB	HP:0001287	Meningitis
629	CFB	HP:0002586	Peritonitis
629	CFB	HP:0000093	Proteinuria
629	CFB	HP:0000007	Autosomal recessive inheritance
629	CFB	HP:0000006	Autosomal dominant inheritance
629	CFB	HP:0002718	Recurrent bacterial infections
629	CFB	HP:0002090	Pneumonia
629	CFB	HP:0100519	Anuria
629	CFB	HP:0005575	Hemolytic-uremic syndrome
629	CFB	HP:0001937	Microangiopathic hemolytic anemia
629	CFB	HP:0001903	Anemia
629	CFB	HP:0001919	Acute kidney injury
629	CFB	HP:0011463	Childhood onset
629	CFB	HP:0000790	Hematuria
629	CFB	HP:0003138	Increased blood urea nitrogen
629	CFB	HP:0000822	Hypertension
629	CFB	HP:0003259	Elevated circulating creatinine concentration
629	CFB	HP:0005381	Recurrent meningococcal disease
629	CFB	HP:0005416	Decreased circulating complement factor B concentration
629	CFB	HP:0001873	Thrombocytopenia
631	BFSP1	HP:0000007	Autosomal recessive inheritance
631	BFSP1	HP:0000006	Autosomal dominant inheritance
631	BFSP1	HP:0003621	Juvenile onset
631	BFSP1	HP:0100018	Nuclear cataract
631	BFSP1	HP:0100019	Cortical cataract
631	BFSP1	HP:0011463	Childhood onset
631	BFSP1	HP:0007971	Lamellar cataract
633	BGN	HP:0001156	Brachydactyly
633	BGN	HP:0001166	Arachnodactyly
633	BGN	HP:0001249	Intellectual disability
633	BGN	HP:0001230	Broad metacarpals
633	BGN	HP:0006059	Cone-shaped metacarpal epiphyses
633	BGN	HP:0006009	Broad phalanx
633	BGN	HP:0001216	Delayed ossification of carpal bones
633	BGN	HP:0002515	Waddling gait
633	BGN	HP:0001377	Limited elbow extension
633	BGN	HP:0001373	Joint dislocation
633	BGN	HP:0001388	Joint laxity
633	BGN	HP:0001382	Joint hypermobility
633	BGN	HP:0003988	Long ulna
633	BGN	HP:0002673	Coxa valga
633	BGN	HP:0002651	Spondyloepimetaphyseal dysplasia
633	BGN	HP:0002647	Aortic dissection
633	BGN	HP:0002616	Aortic root aneurysm
633	BGN	HP:0000193	Bifid uvula
633	BGN	HP:0001419	X-linked recessive inheritance
633	BGN	HP:0001417	X-linked inheritance
633	BGN	HP:0002007	Frontal bossing
633	BGN	HP:0003311	Hypoplasia of the odontoid process
633	BGN	HP:0009486	Radial deviation of the hand
633	BGN	HP:0002119	Ventriculomegaly
633	BGN	HP:0010646	Cervical spine instability
633	BGN	HP:0011940	Anterior wedging of T12
633	BGN	HP:0003521	Disproportionate short-trunk short stature
633	BGN	HP:0001058	Poor wound healing
633	BGN	HP:0001065	Striae distensae
633	BGN	HP:0004981	Prominent styloid process of ulna
633	BGN	HP:0009836	Broad distal phalanx of finger
633	BGN	HP:0009803	Short phalanx of finger
633	BGN	HP:0004970	Ascending tubular aorta aneurysm
633	BGN	HP:0004937	Pulmonary artery aneurysm
633	BGN	HP:0004944	Dilatation of the cerebral artery
633	BGN	HP:0004279	Short palm
633	BGN	HP:0010049	Short metacarpal
633	BGN	HP:0004322	Short stature
633	BGN	HP:0005622	Broad long bones
633	BGN	HP:0003085	Long fibula
633	BGN	HP:0004379	Abnormality of alkaline phosphatase level
633	BGN	HP:0003026	Short long bone
633	BGN	HP:0003025	Metaphyseal irregularity
633	BGN	HP:0000766	Abnormal sternum morphology
633	BGN	HP:0000768	Pectus carinatum
633	BGN	HP:0011463	Childhood onset
633	BGN	HP:0000926	Platyspondyly
633	BGN	HP:0000922	Posterior rib cupping
633	BGN	HP:0003180	Flat acetabular roof
633	BGN	HP:0004482	Relative macrocephaly
633	BGN	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
633	BGN	HP:0000894	Short clavicles
633	BGN	HP:0004573	Anterior wedging of T11
633	BGN	HP:0034392	Joint contracture
633	BGN	HP:0003275	Narrow pelvis bone
633	BGN	HP:0000998	Hypertrichosis
633	BGN	HP:0000978	Bruising susceptibility
633	BGN	HP:0000271	Abnormality of the face
633	BGN	HP:0000272	Malar flattening
633	BGN	HP:0000268	Dolichocephaly
633	BGN	HP:0002808	Kyphosis
633	BGN	HP:0005066	Cone-shaped epiphyses fused within their metaphyses
633	BGN	HP:0006371	Broad long bone diaphyses
633	BGN	HP:0000218	High palate
633	BGN	HP:0000212	Gingival overgrowth
633	BGN	HP:0002869	Flared iliac wing
633	BGN	HP:0001537	Umbilical hernia
633	BGN	HP:0012385	Camptodactyly
633	BGN	HP:0002938	Lumbar hyperlordosis
633	BGN	HP:0000316	Hypertelorism
633	BGN	HP:0000327	Hypoplasia of the maxilla
633	BGN	HP:0002970	Genu varum
633	BGN	HP:0001634	Mitral valve prolapse
633	BGN	HP:0004000	Cone-shaped distal radial epiphysis
633	BGN	HP:0000494	Downslanted palpebral fissures
633	BGN	HP:0001773	Short foot
633	BGN	HP:0001763	Pes planus
633	BGN	HP:0000520	Proptosis
640	BLK	HP:0002594	Pancreatic hypoplasia
640	BLK	HP:0000077	Abnormality of the kidney
640	BLK	HP:0012028	Hepatocellular adenoma
640	BLK	HP:0000006	Autosomal dominant inheritance
640	BLK	HP:0000119	Abnormality of the genitourinary system
640	BLK	HP:0000112	Nephropathy
640	BLK	HP:0000107	Renal cyst
640	BLK	HP:0008255	Transient neonatal diabetes mellitus
640	BLK	HP:0004924	Abnormal oral glucose tolerance
640	BLK	HP:0004904	Maturity-onset diabetes of the young
640	BLK	HP:0001953	Diabetic ketoacidosis
640	BLK	HP:0001952	Glucose intolerance
640	BLK	HP:0001998	Neonatal hypoglycemia
640	BLK	HP:0003076	Glycosuria
640	BLK	HP:0003074	Hyperglycemia
640	BLK	HP:0011462	Young adult onset
640	BLK	HP:0030794	Abnormal circulating C-peptide concentration
640	BLK	HP:0000831	Insulin-resistant diabetes mellitus
640	BLK	HP:0000825	Hyperinsulinemic hypoglycemia
640	BLK	HP:0040214	Abnormal circulating insulin concentration
640	BLK	HP:0040217	Elevated hemoglobin A1c
640	BLK	HP:0040216	Hypoinsulinemia
640	BLK	HP:0000956	Acanthosis nigricans
640	BLK	HP:0030057	Autoimmune antibody positivity
640	BLK	HP:0025502	Overweight
640	BLK	HP:0001520	Large for gestational age
640	BLK	HP:0001511	Intrauterine growth retardation
640	BLK	HP:0001513	Obesity
640	BLK	HP:0001738	Exocrine pancreatic insufficiency
640	BLK	HP:0000488	Retinopathy
641	BLM	HP:0001161	Hand polydactyly
641	BLM	HP:0001159	Syndactyly
641	BLM	HP:0032218	Decreased proportion of CD4-positive T cells
641	BLM	HP:0100825	Cheilitis
641	BLM	HP:0001256	Intellectual disability, mild
641	BLM	HP:0001397	Hepatic steatosis
641	BLM	HP:0000028	Cryptorchidism
641	BLM	HP:0000027	Azoospermia
641	BLM	HP:0008897	Postnatal growth retardation
641	BLM	HP:0008887	Adipose tissue loss
641	BLM	HP:0008850	Severe postnatal growth retardation
641	BLM	HP:0002664	Neoplasm
641	BLM	HP:0025300	Malar rash
641	BLM	HP:0001328	Specific learning disability
641	BLM	HP:0000010	Recurrent urinary tract infections
641	BLM	HP:0000007	Autosomal recessive inheritance
641	BLM	HP:0002667	Nephroblastoma
641	BLM	HP:0002665	Lymphoma
641	BLM	HP:0031123	Recurrent gastroenteritis
641	BLM	HP:0012126	Stomach cancer
641	BLM	HP:0002788	Recurrent upper respiratory tract infections
641	BLM	HP:0002719	Recurrent infections
641	BLM	HP:0002715	Abnormality of the immune system
641	BLM	HP:0002720	Decreased circulating IgA level
641	BLM	HP:0002020	Gastroesophageal reflux
641	BLM	HP:0005978	Type II diabetes mellitus
641	BLM	HP:0002090	Pneumonia
641	BLM	HP:0002110	Bronchiectasis
641	BLM	HP:0008209	Premature ovarian insufficiency
641	BLM	HP:0003593	Infantile onset
641	BLM	HP:0003577	Congenital onset
641	BLM	HP:0002232	Patchy alopecia
641	BLM	HP:0100751	Esophageal neoplasm
641	BLM	HP:0011947	Respiratory tract infection
641	BLM	HP:0004808	Acute myeloid leukemia
641	BLM	HP:0001029	Poikiloderma
641	BLM	HP:0001041	Facial erythema
641	BLM	HP:0001010	Hypopigmentation of the skin
641	BLM	HP:0001009	Telangiectasia
641	BLM	HP:0020105	Severe toxoplasmosis
641	BLM	HP:0032170	Severe varicella zoster infection
641	BLM	HP:0004209	Clinodactyly of the 5th finger
641	BLM	HP:0005598	Facial telangiectasia in butterfly midface distribution
641	BLM	HP:0005590	Spotty hypopigmentation
641	BLM	HP:0001909	Leukemia
641	BLM	HP:0000690	Agenesis of maxillary lateral incisor
641	BLM	HP:0000653	Sparse eyelashes
641	BLM	HP:0004315	Decreased circulating IgG level
641	BLM	HP:0004313	Decreased circulating antibody level
641	BLM	HP:0004396	Poor appetite
641	BLM	HP:0100013	Neoplasm of the breast
641	BLM	HP:0012743	Abdominal obesity
641	BLM	HP:0011471	Gastrostomy tube feeding in infancy
641	BLM	HP:0000798	Oligospermia
641	BLM	HP:0000855	Insulin resistance
641	BLM	HP:0000868	Decreased fertility in females
641	BLM	HP:0000819	Diabetes mellitus
641	BLM	HP:0040012	Chromosome breakage
641	BLM	HP:0003220	Abnormality of chromosome stability
641	BLM	HP:0040217	Elevated hemoglobin A1c
641	BLM	HP:0003251	Male infertility
641	BLM	HP:0000998	Hypertrichosis
641	BLM	HP:0100273	Neoplasm of the colon
641	BLM	HP:0000992	Cutaneous photosensitivity
641	BLM	HP:0000988	Skin rash
641	BLM	HP:0000957	Cafe-au-lait spot
641	BLM	HP:0008066	Abnormal blistering of the skin
641	BLM	HP:0008069	Neoplasm of the skin
641	BLM	HP:0040195	Decreased head circumference
641	BLM	HP:0000278	Retrognathia
641	BLM	HP:0000275	Narrow face
641	BLM	HP:0000272	Malar flattening
641	BLM	HP:0000268	Dolichocephaly
641	BLM	HP:0031393	Abnormal proportion of CD8-positive T cells
641	BLM	HP:0000252	Microcephaly
641	BLM	HP:0002878	Respiratory failure
641	BLM	HP:0002860	Squamous cell carcinoma
641	BLM	HP:0002863	Myelodysplasia
641	BLM	HP:0002850	Decreased circulating total IgM
641	BLM	HP:0001518	Small for gestational age
641	BLM	HP:0001511	Intrauterine growth retardation
641	BLM	HP:0001510	Growth delay
641	BLM	HP:0006510	Chronic pulmonary obstruction
641	BLM	HP:0012387	Bronchitis
641	BLM	HP:0012384	Rhinitis
641	BLM	HP:0000388	Otitis media
641	BLM	HP:0006528	Chronic lung disease
641	BLM	HP:0000347	Micrognathia
641	BLM	HP:0025615	Abscess
641	BLM	HP:0001620	High pitched voice
641	BLM	HP:0005353	Recurrent herpes
641	BLM	HP:0000488	Retinopathy
641	BLM	HP:0011110	Recurrent tonsillitis
641	BLM	HP:0000448	Prominent nose
641	BLM	HP:0000411	Protruding ear
641	BLM	HP:0006721	Acute lymphoblastic leukemia
641	BLM	HP:0006758	Malignant genitourinary tract tumor
641	BLM	HP:0001818	Paronychia
641	BLM	HP:0000554	Uveitis
644	BLVRA	HP:0001396	Cholestasis
644	BLVRA	HP:0000007	Autosomal recessive inheritance
644	BLVRA	HP:0000006	Autosomal dominant inheritance
644	BLVRA	HP:0001410	Decreased liver function
644	BLVRA	HP:0003584	Late onset
644	BLVRA	HP:0032003	Green urine
644	BLVRA	HP:0001081	Cholelithiasis
644	BLVRA	HP:0034383	Elevated circulating biliverdin concentration
646	BNC1	HP:0001166	Arachnodactyly
646	BNC1	HP:0009888	Abnormality of secondary sexual hair
646	BNC1	HP:0001251	Ataxia
646	BNC1	HP:0008684	Aplasia/hypoplasia of the uterus
646	BNC1	HP:0000062	Ambiguous genitalia
646	BNC1	HP:0000006	Autosomal dominant inheritance
646	BNC1	HP:0000144	Decreased fertility
646	BNC1	HP:0000133	Gonadal dysgenesis
646	BNC1	HP:0002750	Delayed skeletal maturation
646	BNC1	HP:0010464	Streak ovary
646	BNC1	HP:0008232	Elevated circulating follicle stimulating hormone level
646	BNC1	HP:0008209	Premature ovarian insufficiency
646	BNC1	HP:0008214	Decreased serum estradiol
646	BNC1	HP:0002225	Sparse pubic hair
646	BNC1	HP:0002206	Pulmonary fibrosis
646	BNC1	HP:0001939	Abnormality of metabolism/homeostasis
646	BNC1	HP:0004322	Short stature
646	BNC1	HP:0005625	Osteoporosis of vertebrae
646	BNC1	HP:0004349	Reduced bone mineral density
646	BNC1	HP:0000786	Primary amenorrhea
646	BNC1	HP:0000869	Secondary amenorrhea
646	BNC1	HP:0000837	Increased circulating gonadotropin level
646	BNC1	HP:0000823	Delayed puberty
646	BNC1	HP:0033085	Reduced antral follicle count
646	BNC1	HP:0010311	Aplasia/Hypoplasia of the breasts
646	BNC1	HP:0000938	Osteopenia
646	BNC1	HP:0000252	Microcephaly
646	BNC1	HP:0000365	Hearing impairment
649	BMP1	HP:0001166	Arachnodactyly
649	BMP1	HP:0001290	Generalized hypotonia
649	BMP1	HP:0001252	Hypotonia
649	BMP1	HP:0001249	Intellectual disability
649	BMP1	HP:0003863	Angulated humerus
649	BMP1	HP:0001382	Joint hypermobility
649	BMP1	HP:0000007	Autosomal recessive inheritance
649	BMP1	HP:0002650	Scoliosis
649	BMP1	HP:0002645	Wormian bones
649	BMP1	HP:0002757	Recurrent fractures
649	BMP1	HP:0002751	Kyphoscoliosis
649	BMP1	HP:0002194	Delayed gross motor development
649	BMP1	HP:0010501	Limitation of knee mobility
649	BMP1	HP:0003577	Congenital onset
649	BMP1	HP:0002230	Generalized hirsutism
649	BMP1	HP:0010677	Enuresis nocturna
649	BMP1	HP:0100625	Enlarged thorax
649	BMP1	HP:0000637	Long palpebral fissure
649	BMP1	HP:0004325	Decreased body weight
649	BMP1	HP:0004322	Short stature
649	BMP1	HP:0003083	Dislocated radial head
649	BMP1	HP:0004349	Reduced bone mineral density
649	BMP1	HP:0000768	Pectus carinatum
649	BMP1	HP:0000703	Dentinogenesis imperfecta
649	BMP1	HP:0000926	Platyspondyly
649	BMP1	HP:0003183	Wide pubic symphysis
649	BMP1	HP:0003202	Skeletal muscle atrophy
649	BMP1	HP:0000939	Osteoporosis
649	BMP1	HP:0006387	Wide distal femoral metaphysis
649	BMP1	HP:0000233	Thin vermilion border
649	BMP1	HP:0001537	Umbilical hernia
649	BMP1	HP:0000365	Hearing impairment
649	BMP1	HP:0000343	Long philtrum
649	BMP1	HP:0011001	Increased bone mineral density
649	BMP1	HP:0000337	Broad forehead
649	BMP1	HP:0002980	Femoral bowing
649	BMP1	HP:0000325	Triangular face
649	BMP1	HP:0000411	Protruding ear
649	BMP1	HP:0000527	Long eyelashes
649	BMP1	HP:0000592	Blue sclerae
650	BMP2	HP:0008551	Microtia
650	BMP2	HP:0001250	Seizure
650	BMP2	HP:0001252	Hypotonia
650	BMP2	HP:0001249	Intellectual disability
650	BMP2	HP:0001263	Global developmental delay
650	BMP2	HP:0001394	Cirrhosis
650	BMP2	HP:0000044	Hypogonadotropic hypogonadism
650	BMP2	HP:0000029	Testicular atrophy
650	BMP2	HP:0000027	Azoospermia
650	BMP2	HP:0000007	Autosomal recessive inheritance
650	BMP2	HP:0000006	Autosomal dominant inheritance
650	BMP2	HP:0000160	Narrow mouth
650	BMP2	HP:0000141	Amenorrhea
650	BMP2	HP:0008947	Infantile muscular hypotonia
650	BMP2	HP:0001402	Hepatocellular carcinoma
650	BMP2	HP:0002750	Delayed skeletal maturation
650	BMP2	HP:0004691	2-3 toe syndactyly
650	BMP2	HP:0002027	Abdominal pain
650	BMP2	HP:0003302	Spondylolisthesis
650	BMP2	HP:0011800	Midface retrusion
650	BMP2	HP:0009464	Ulnar deviation of the 2nd finger
650	BMP2	HP:0009467	Radial deviation of the 2nd finger
650	BMP2	HP:0003452	Increased serum iron
650	BMP2	HP:0002119	Ventriculomegaly
650	BMP2	HP:0004763	Paroxysmal supraventricular tachycardia
650	BMP2	HP:0009575	Triangular shaped middle phalanx of the 2nd finger
650	BMP2	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
650	BMP2	HP:0009536	Short 2nd finger
650	BMP2	HP:0002240	Hepatomegaly
650	BMP2	HP:0002202	Pleural effusion
650	BMP2	HP:0100797	Toenail dysplasia
650	BMP2	HP:0001009	Telangiectasia
650	BMP2	HP:0004209	Clinodactyly of the 5th finger
650	BMP2	HP:0010059	Broad hallux phalanx
650	BMP2	HP:0004220	Short middle phalanx of the 5th finger
650	BMP2	HP:0001952	Glucose intolerance
650	BMP2	HP:0010047	Short 5th metacarpal
650	BMP2	HP:0010055	Broad hallux
650	BMP2	HP:0010038	Short 2nd metacarpal
650	BMP2	HP:0000678	Dental crowding
650	BMP2	HP:0011304	Broad thumb
650	BMP2	HP:0000664	Synophrys
650	BMP2	HP:0004322	Short stature
650	BMP2	HP:0000802	Impotence
650	BMP2	HP:0003040	Arthropathy
650	BMP2	HP:0009102	Anterior open-bite malocclusion
650	BMP2	HP:0000767	Pectus excavatum
650	BMP2	HP:0000768	Pectus carinatum
650	BMP2	HP:0009182	Triangular shaped middle phalanx of the 5th finger
650	BMP2	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
650	BMP2	HP:0010109	Short hallux
650	BMP2	HP:0003196	Short nose
650	BMP2	HP:0000878	11 pairs of ribs
650	BMP2	HP:0000884	Prominent sternum
650	BMP2	HP:0000819	Diabetes mellitus
650	BMP2	HP:0003298	Spina bifida occulta
650	BMP2	HP:0003281	Increased circulating ferritin concentration
650	BMP2	HP:0000953	Hyperpigmentation of the skin
650	BMP2	HP:0000939	Osteoporosis
650	BMP2	HP:0000938	Osteopenia
650	BMP2	HP:0008096	Medially deviated second toe
650	BMP2	HP:0005819	Short middle phalanx of finger
650	BMP2	HP:0009372	Type A2 brachydactyly
650	BMP2	HP:0011675	Arrhythmia
650	BMP2	HP:0011682	Perimembranous ventricular septal defect
650	BMP2	HP:0000286	Epicanthus
650	BMP2	HP:0000293	Full cheeks
650	BMP2	HP:0001596	Alopecia
650	BMP2	HP:0000256	Macrocephaly
650	BMP2	HP:0000272	Malar flattening
650	BMP2	HP:0000219	Thin upper lip vermilion
650	BMP2	HP:0000218	High palate
650	BMP2	HP:0000232	Everted lower lip vermilion
650	BMP2	HP:0002870	Obstructive sleep apnea
650	BMP2	HP:0001541	Ascites
650	BMP2	HP:0000201	Pierre-Robin sequence
650	BMP2	HP:0000391	Thickened helices
650	BMP2	HP:0002910	Elevated hepatic transaminase
650	BMP2	HP:0000358	Posteriorly rotated ears
650	BMP2	HP:0000369	Low-set ears
650	BMP2	HP:0000341	Narrow forehead
650	BMP2	HP:0000343	Long philtrum
650	BMP2	HP:0001669	Transposition of the great arteries
650	BMP2	HP:0000337	Broad forehead
650	BMP2	HP:0000316	Hypertelorism
650	BMP2	HP:0001642	Pulmonic stenosis
650	BMP2	HP:0000327	Hypoplasia of the maxilla
650	BMP2	HP:0001640	Cardiomegaly
650	BMP2	HP:0001635	Congestive heart failure
650	BMP2	HP:0001638	Cardiomyopathy
650	BMP2	HP:0001631	Atrial septal defect
650	BMP2	HP:0000405	Conductive hearing impairment
650	BMP2	HP:0001716	Wolff-Parkinson-White syndrome
650	BMP2	HP:0005280	Depressed nasal bridge
650	BMP2	HP:0000494	Downslanted palpebral fissures
650	BMP2	HP:0000463	Anteverted nares
650	BMP2	HP:0001773	Short foot
650	BMP2	HP:0001744	Splenomegaly
650	BMP2	HP:0000431	Wide nasal bridge
650	BMP2	HP:0001852	Sandal gap
650	BMP2	HP:0001822	Hallux valgus
650	BMP2	HP:0001831	Short toe
652	BMP4	HP:0001155	Abnormality of the hand
652	BMP4	HP:0001156	Brachydactyly
652	BMP4	HP:0001144	Orbital cyst
652	BMP4	HP:0009909	Uplifted earlobe
652	BMP4	HP:0001274	Agenesis of corpus callosum
652	BMP4	HP:0001250	Seizure
652	BMP4	HP:0001252	Hypotonia
652	BMP4	HP:0001263	Global developmental delay
652	BMP4	HP:0006101	Finger syndactyly
652	BMP4	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
652	BMP4	HP:0010999	Aplasia of the optic tract
652	BMP4	HP:0010982	Polygenic inheritance
652	BMP4	HP:0000089	Renal hypoplasia
652	BMP4	HP:0000046	Small scrotum
652	BMP4	HP:0001357	Plagiocephaly
652	BMP4	HP:0000028	Cryptorchidism
652	BMP4	HP:0008872	Feeding difficulties in infancy
652	BMP4	HP:0001344	Absent speech
652	BMP4	HP:0000006	Autosomal dominant inheritance
652	BMP4	HP:0001321	Cerebellar hypoplasia
652	BMP4	HP:0000193	Bifid uvula
652	BMP4	HP:0000175	Cleft palate
652	BMP4	HP:0000171	Microglossia
652	BMP4	HP:0006342	Peg-shaped maxillary lateral incisors
652	BMP4	HP:0410030	Cleft lip
652	BMP4	HP:0006292	Abnormality of dental eruption
652	BMP4	HP:0000134	Female hypogonadism
652	BMP4	HP:0002033	Poor suck
652	BMP4	HP:0002011	Morphological central nervous system abnormality
652	BMP4	HP:0011800	Midface retrusion
652	BMP4	HP:0010442	Polydactyly
652	BMP4	HP:0002120	Cerebral cortical atrophy
652	BMP4	HP:0002119	Ventriculomegaly
652	BMP4	HP:0009623	Proximal placement of thumb
652	BMP4	HP:0009600	Contracture of thumb
652	BMP4	HP:0002188	Delayed CNS myelination
652	BMP4	HP:0002164	Nail dysplasia
652	BMP4	HP:0010538	Small sella turcica
652	BMP4	HP:0200153	Agenesis of lateral incisor
652	BMP4	HP:0200136	Oral-pharyngeal dysphagia
652	BMP4	HP:0007068	Inferior cerebellar vermis hypoplasia
652	BMP4	HP:0004209	Clinodactyly of the 5th finger
652	BMP4	HP:0006829	Severe muscular hypotonia
652	BMP4	HP:0009088	Speech articulation difficulties
652	BMP4	HP:0000639	Nystagmus
652	BMP4	HP:0000647	Sclerocornea
652	BMP4	HP:0000618	Blindness
652	BMP4	HP:0000612	Iris coloboma
652	BMP4	HP:0000689	Dental malocclusion
652	BMP4	HP:0004395	Malnutrition
652	BMP4	HP:0000750	Delayed speech and language development
652	BMP4	HP:0004443	Lambdoidal craniosynostosis
652	BMP4	HP:0000864	Abnormality of the hypothalamus-pituitary axis
652	BMP4	HP:0000835	Adrenal hypoplasia
652	BMP4	HP:0000830	Anterior hypopituitarism
652	BMP4	HP:0100337	Bilateral cleft palate
652	BMP4	HP:0100334	Unilateral cleft palate
652	BMP4	HP:0000821	Hypothyroidism
652	BMP4	HP:0010294	Palate fistula
652	BMP4	HP:0000954	Single transverse palmar crease
652	BMP4	HP:0005819	Short middle phalanx of finger
652	BMP4	HP:0000278	Retrognathia
652	BMP4	HP:0000252	Microcephaly
652	BMP4	HP:0000248	Brachycephaly
652	BMP4	HP:0000220	Velopharyngeal insufficiency
652	BMP4	HP:0000218	High palate
652	BMP4	HP:0000202	Orofacial cleft
652	BMP4	HP:0001508	Failure to thrive
652	BMP4	HP:0011044	Abnormal number of permanent teeth
652	BMP4	HP:0001611	Hypernasal speech
652	BMP4	HP:0000365	Hearing impairment
652	BMP4	HP:0000358	Posteriorly rotated ears
652	BMP4	HP:0000369	Low-set ears
652	BMP4	HP:0000348	High forehead
652	BMP4	HP:0000347	Micrognathia
652	BMP4	HP:0000327	Hypoplasia of the maxilla
652	BMP4	HP:0000324	Facial asymmetry
652	BMP4	HP:0000407	Sensorineural hearing impairment
652	BMP4	HP:0000403	Recurrent otitis media
652	BMP4	HP:0000405	Conductive hearing impairment
652	BMP4	HP:0000400	Macrotia
652	BMP4	HP:0000482	Microcornea
652	BMP4	HP:0001770	Toe syndactyly
652	BMP4	HP:0000411	Protruding ear
652	BMP4	HP:0000518	Cataract
652	BMP4	HP:0000528	Anophthalmia
652	BMP4	HP:0001830	Postaxial foot polydactyly
652	BMP4	HP:0000589	Coloboma
652	BMP4	HP:0000556	Retinal dystrophy
652	BMP4	HP:0000568	Microphthalmia
652	BMP4	HP:0000567	Chorioretinal coloboma
652	BMP4	HP:0000545	Myopia
654	BMP6	HP:0001254	Lethargy
654	BMP6	HP:0001394	Cirrhosis
654	BMP6	HP:0000044	Hypogonadotropic hypogonadism
654	BMP6	HP:0001369	Arthritis
654	BMP6	HP:0001386	Joint swelling
654	BMP6	HP:0001387	Joint stiffness
654	BMP6	HP:0000029	Testicular atrophy
654	BMP6	HP:0001324	Muscle weakness
654	BMP6	HP:0000006	Autosomal dominant inheritance
654	BMP6	HP:0000141	Amenorrhea
654	BMP6	HP:0007574	Generalized bronze hyperpigmentation
654	BMP6	HP:0001409	Portal hypertension
654	BMP6	HP:0001402	Hepatocellular carcinoma
654	BMP6	HP:0002027	Abdominal pain
654	BMP6	HP:0005978	Type II diabetes mellitus
654	BMP6	HP:0011911	Abnormal metacarpophalangeal joint morphology
654	BMP6	HP:0003596	Middle age onset
654	BMP6	HP:0002240	Hepatomegaly
654	BMP6	HP:0003584	Late onset
654	BMP6	HP:0009830	Peripheral neuropathy
654	BMP6	HP:0100626	Chronic hepatic failure
654	BMP6	HP:0100639	Erectile dysfunction
654	BMP6	HP:0031877	Elevated circulating hepcidin concentration
654	BMP6	HP:0003074	Hyperglycemia
654	BMP6	HP:0003040	Arthropathy
654	BMP6	HP:0000771	Gynecomastia
654	BMP6	HP:0000741	Apathy
654	BMP6	HP:0000789	Infertility
654	BMP6	HP:0003199	Decreased muscle mass
654	BMP6	HP:0000819	Diabetes mellitus
654	BMP6	HP:0000821	Hypothyroidism
654	BMP6	HP:0003281	Increased circulating ferritin concentration
654	BMP6	HP:0030848	Elevated jugular venous pressure
654	BMP6	HP:0000953	Hyperpigmentation of the skin
654	BMP6	HP:0000939	Osteoporosis
654	BMP6	HP:0040171	Decreased serum testosterone concentration
654	BMP6	HP:0011675	Arrhythmia
654	BMP6	HP:0002829	Arthralgia
654	BMP6	HP:0012378	Fatigue
654	BMP6	HP:0011031	Abnormality of iron homeostasis
654	BMP6	HP:0005198	Stiff interphalangeal joints
654	BMP6	HP:0030153	Cholangiocarcinoma
654	BMP6	HP:0001640	Cardiomegaly
654	BMP6	HP:0001635	Congestive heart failure
654	BMP6	HP:0001638	Cardiomyopathy
654	BMP6	HP:0012463	Elevated transferrin saturation
654	BMP6	HP:0012465	Elevated hepatic iron concentration
654	BMP6	HP:0001744	Splenomegaly
654	BMP6	HP:0001824	Weight loss
657	BMPR1A	HP:0001123	Visual field defect
657	BMPR1A	HP:0007256	Abnormal pyramidal sign
657	BMPR1A	HP:0001290	Generalized hypotonia
657	BMPR1A	HP:0001276	Hypertonia
657	BMPR1A	HP:0001270	Motor delay
657	BMPR1A	HP:0001288	Gait disturbance
657	BMPR1A	HP:0100835	Benign neoplasm of the central nervous system
657	BMPR1A	HP:0002584	Intestinal bleeding
657	BMPR1A	HP:0001256	Intellectual disability, mild
657	BMPR1A	HP:0001250	Seizure
657	BMPR1A	HP:0001252	Hypotonia
657	BMPR1A	HP:0001249	Intellectual disability
657	BMPR1A	HP:0001260	Dysarthria
657	BMPR1A	HP:0002576	Intussusception
657	BMPR1A	HP:0002573	Hematochezia
657	BMPR1A	HP:0100896	Rectal polyposis
657	BMPR1A	HP:0007378	Neoplasm of the gastrointestinal tract
657	BMPR1A	HP:0001217	Clubbing
657	BMPR1A	HP:0002516	Increased intracranial pressure
657	BMPR1A	HP:0001371	Flexion contracture
657	BMPR1A	HP:0002671	Basal cell carcinoma
657	BMPR1A	HP:0000006	Autosomal dominant inheritance
657	BMPR1A	HP:0012198	Juvenile colonic polyposis
657	BMPR1A	HP:0012183	Hyperplastic colonic polyposis
657	BMPR1A	HP:0012174	Glioblastoma multiforme
657	BMPR1A	HP:0000160	Narrow mouth
657	BMPR1A	HP:0012125	Prostate cancer
657	BMPR1A	HP:0012126	Stomach cancer
657	BMPR1A	HP:0012114	Endometrial carcinoma
657	BMPR1A	HP:0002705	High, narrow palate
657	BMPR1A	HP:0012113	Abnormal circulating creatine concentration
657	BMPR1A	HP:0001402	Hepatocellular carcinoma
657	BMPR1A	HP:0002024	Malabsorption
657	BMPR1A	HP:0002019	Constipation
657	BMPR1A	HP:0002017	Nausea and vomiting
657	BMPR1A	HP:0002035	Rectal prolapse
657	BMPR1A	HP:0002027	Abdominal pain
657	BMPR1A	HP:0002003	Large forehead
657	BMPR1A	HP:0002014	Diarrhea
657	BMPR1A	HP:0002007	Frontal bossing
657	BMPR1A	HP:0002076	Migraine
657	BMPR1A	HP:0100571	Cardiac diverticulum
657	BMPR1A	HP:0100576	Amaurosis fugax
657	BMPR1A	HP:0040276	Adenocarcinoma of the colon
657	BMPR1A	HP:0004783	Duodenal polyposis
657	BMPR1A	HP:0002167	Abnormality of speech or vocalization
657	BMPR1A	HP:0010526	Dysgraphia
657	BMPR1A	HP:0010524	Agnosia
657	BMPR1A	HP:0003401	Paresthesia
657	BMPR1A	HP:0002243	Protein-losing enteropathy
657	BMPR1A	HP:0002239	Gastrointestinal hemorrhage
657	BMPR1A	HP:0002249	Melena
657	BMPR1A	HP:0009726	Renal neoplasm
657	BMPR1A	HP:0100743	Neoplasm of the rectum
657	BMPR1A	HP:0100759	Clubbing of fingers
657	BMPR1A	HP:0007018	Attention deficit hyperactivity disorder
657	BMPR1A	HP:0010622	Neoplasm of the skeletal system
657	BMPR1A	HP:0001031	Subcutaneous lipoma
657	BMPR1A	HP:0001028	Hemangioma
657	BMPR1A	HP:0002376	Developmental regression
657	BMPR1A	HP:0002354	Memory impairment
657	BMPR1A	HP:0001017	Anemic pallor
657	BMPR1A	HP:0100660	Dyskinesia
657	BMPR1A	HP:0200063	Colorectal polyposis
657	BMPR1A	HP:0100615	Ovarian neoplasm
657	BMPR1A	HP:0010797	Hemangioblastoma
657	BMPR1A	HP:0010786	Urinary tract neoplasm
657	BMPR1A	HP:0010784	Uterine neoplasm
657	BMPR1A	HP:0005505	Refractory anemia
657	BMPR1A	HP:0001903	Anemia
657	BMPR1A	HP:0011304	Broad thumb
657	BMPR1A	HP:0001999	Abnormal facial shape
657	BMPR1A	HP:0004322	Short stature
657	BMPR1A	HP:0003003	Colon cancer
657	BMPR1A	HP:0004326	Cachexia
657	BMPR1A	HP:0003073	Hypoalbuminemia
657	BMPR1A	HP:0004394	Multiple gastric polyps
657	BMPR1A	HP:0004390	Hamartomatous polyposis
657	BMPR1A	HP:0004374	Hemiplegia/hemiparesis
657	BMPR1A	HP:0003006	Neuroblastoma
657	BMPR1A	HP:0100013	Neoplasm of the breast
657	BMPR1A	HP:0100031	Neoplasm of the thyroid gland
657	BMPR1A	HP:0000738	Hallucinations
657	BMPR1A	HP:0000737	Irritability
657	BMPR1A	HP:0000739	Anxiety
657	BMPR1A	HP:0000716	Depression
657	BMPR1A	HP:0000708	Atypical behavior
657	BMPR1A	HP:0010174	Broad phalanx of the toes
657	BMPR1A	HP:0100273	Neoplasm of the colon
657	BMPR1A	HP:0000969	Edema
657	BMPR1A	HP:0100245	Desmoid tumors
657	BMPR1A	HP:0000256	Macrocephaly
657	BMPR1A	HP:0002894	Neoplasm of the pancreas
657	BMPR1A	HP:0002893	Pituitary adenoma
657	BMPR1A	HP:0002890	Thyroid carcinoma
657	BMPR1A	HP:0001508	Failure to thrive
657	BMPR1A	HP:0001510	Growth delay
657	BMPR1A	HP:0012378	Fatigue
657	BMPR1A	HP:0005227	Adenomatous colonic polyposis
657	BMPR1A	HP:0002900	Hypokalemia
657	BMPR1A	HP:0000369	Low-set ears
657	BMPR1A	HP:0000316	Hypertelorism
657	BMPR1A	HP:0001643	Patent ductus arteriosus
657	BMPR1A	HP:0000331	Short chin
657	BMPR1A	HP:0001627	Abnormal heart morphology
657	BMPR1A	HP:0001631	Atrial septal defect
657	BMPR1A	HP:0006608	Midclavicular hypoplasia
657	BMPR1A	HP:0005280	Depressed nasal bridge
657	BMPR1A	HP:0000494	Downslanted palpebral fissures
657	BMPR1A	HP:0030257	Freckled genitalia
657	BMPR1A	HP:0030256	Small intestinal polyposis
657	BMPR1A	HP:0006753	Neoplasm of the stomach
657	BMPR1A	HP:0006725	Pancreatic adenocarcinoma
657	BMPR1A	HP:0006771	Duodenal adenocarcinoma
657	BMPR1A	HP:0001824	Weight loss
657	BMPR1A	HP:0000505	Visual impairment
657	BMPR1A	HP:0001892	Abnormal bleeding
658	BMPR1B	HP:0001172	Abnormal thumb morphology
658	BMPR1B	HP:0001156	Brachydactyly
658	BMPR1B	HP:0001162	Postaxial hand polydactyly
658	BMPR1B	HP:0001231	Abnormal fingernail morphology
658	BMPR1B	HP:0001230	Broad metacarpals
658	BMPR1B	HP:0100864	Short femoral neck
658	BMPR1B	HP:0001204	Distal symphalangism of hands
658	BMPR1B	HP:0001376	Limitation of joint mobility
658	BMPR1B	HP:0001387	Joint stiffness
658	BMPR1B	HP:0008873	Disproportionate short-limb short stature
658	BMPR1B	HP:0000013	Hypoplasia of the uterus
658	BMPR1B	HP:0000007	Autosomal recessive inheritance
658	BMPR1B	HP:0000006	Autosomal dominant inheritance
658	BMPR1B	HP:0002652	Skeletal dysplasia
658	BMPR1B	HP:0002650	Scoliosis
658	BMPR1B	HP:0005028	Widened proximal tibial metaphyses
658	BMPR1B	HP:0007598	Bilateral single transverse palmar creases
658	BMPR1B	HP:0002750	Delayed skeletal maturation
658	BMPR1B	HP:0004691	2-3 toe syndactyly
658	BMPR1B	HP:0009465	Ulnar deviation of finger
658	BMPR1B	HP:0009464	Ulnar deviation of the 2nd finger
658	BMPR1B	HP:0009467	Radial deviation of the 2nd finger
658	BMPR1B	HP:0009466	Radial deviation of finger
658	BMPR1B	HP:0005930	Abnormal epiphysis morphology
658	BMPR1B	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
658	BMPR1B	HP:0009495	Pseudoepiphysis of the 2nd finger
658	BMPR1B	HP:0009606	Complete duplication of distal phalanx of the thumb
658	BMPR1B	HP:0009601	Aplasia/Hypoplasia of the thumb
658	BMPR1B	HP:0009575	Triangular shaped middle phalanx of the 2nd finger
658	BMPR1B	HP:0008232	Elevated circulating follicle stimulating hormone level
658	BMPR1B	HP:0009566	Short distal phalanx of the 2nd finger
658	BMPR1B	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
658	BMPR1B	HP:0009536	Short 2nd finger
658	BMPR1B	HP:0010508	Metatarsus valgus
658	BMPR1B	HP:0010579	Cone-shaped epiphysis
658	BMPR1B	HP:0009596	Aplasia of the proximal phalanx of the 2nd finger
658	BMPR1B	HP:0002275	Poor motor coordination
658	BMPR1B	HP:0003577	Congenital onset
658	BMPR1B	HP:0009702	Carpal synostosis
658	BMPR1B	HP:0008368	Tarsal synostosis
658	BMPR1B	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb
658	BMPR1B	HP:0011969	Elevated circulating luteinizing hormone level
658	BMPR1B	HP:0009650	Short distal phalanx of the thumb
658	BMPR1B	HP:0009638	Short proximal phalanx of thumb
658	BMPR1B	HP:0009826	Limb undergrowth
658	BMPR1B	HP:0009803	Short phalanx of finger
658	BMPR1B	HP:0009773	Symphalangism affecting the phalanges of the hand
658	BMPR1B	HP:0009778	Short thumb
658	BMPR1B	HP:0010743	Short metatarsal
658	BMPR1B	HP:0004209	Clinodactyly of the 5th finger
658	BMPR1B	HP:0004220	Short middle phalanx of the 5th finger
658	BMPR1B	HP:0010055	Broad hallux
658	BMPR1B	HP:0010038	Short 2nd metacarpal
658	BMPR1B	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal
658	BMPR1B	HP:0010034	Short 1st metacarpal
658	BMPR1B	HP:0004322	Short stature
658	BMPR1B	HP:0003038	Fibular hypoplasia
658	BMPR1B	HP:0003022	Hypoplasia of the ulna
658	BMPR1B	HP:0000750	Delayed speech and language development
658	BMPR1B	HP:0009182	Triangular shaped middle phalanx of the 5th finger
658	BMPR1B	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
658	BMPR1B	HP:0010109	Short hallux
658	BMPR1B	HP:0000786	Primary amenorrhea
658	BMPR1B	HP:0005736	Short tibia
658	BMPR1B	HP:0100387	Aplasia of the middle phalanges of the toes
658	BMPR1B	HP:0000815	Hypergonadotropic hypogonadism
658	BMPR1B	HP:0040071	Abnormal morphology of ulna
658	BMPR1B	HP:0010241	Short proximal phalanx of finger
658	BMPR1B	HP:0003272	Abnormal hip bone morphology
658	BMPR1B	HP:0100242	Sarcoma
658	BMPR1B	HP:0008096	Medially deviated second toe
658	BMPR1B	HP:0005819	Short middle phalanx of finger
658	BMPR1B	HP:0009381	Short finger
658	BMPR1B	HP:0009373	Type C brachydactyly
658	BMPR1B	HP:0009372	Type A2 brachydactyly
658	BMPR1B	HP:0002818	Abnormal morphology of the radius
658	BMPR1B	HP:0005048	Synostosis of carpal bones
658	BMPR1B	HP:0001522	Death in infancy
658	BMPR1B	HP:0006492	Aplasia/Hypoplasia of the fibula
658	BMPR1B	HP:0006487	Bowing of the long bones
658	BMPR1B	HP:0002983	Micromelia
658	BMPR1B	HP:0002992	Abnormality of tibia morphology
658	BMPR1B	HP:0002990	Fibular aplasia
658	BMPR1B	HP:0001773	Short foot
658	BMPR1B	HP:0001769	Broad foot
658	BMPR1B	HP:0000446	Narrow nasal bridge
658	BMPR1B	HP:0001776	Bilateral talipes equinovarus
658	BMPR1B	HP:0001760	Abnormal foot morphology
658	BMPR1B	HP:0001762	Talipes equinovarus
658	BMPR1B	HP:0001822	Hallux valgus
658	BMPR1B	HP:0001831	Short toe
659	BMPR2	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT
659	BMPR2	HP:0003829	Typified by incomplete penetrance
659	BMPR2	HP:0000006	Autosomal dominant inheritance
659	BMPR2	HP:0002094	Dyspnea
659	BMPR2	HP:0002092	Pulmonary arterial hypertension
659	BMPR2	HP:0003596	Middle age onset
659	BMPR2	HP:0001009	Telangiectasia
659	BMPR2	HP:0004964	Pulmonary arterial medial hypertrophy
659	BMPR2	HP:0001977	Abnormal thrombosis
659	BMPR2	HP:0011353	Arterial intimal fibrosis
659	BMPR2	HP:0012735	Cough
659	BMPR2	HP:0011462	Young adult onset
659	BMPR2	HP:0000822	Hypertension
659	BMPR2	HP:0030879	Interlobular septal thickening
659	BMPR2	HP:0030848	Elevated jugular venous pressure
659	BMPR2	HP:0006518	Pulmonary venous occlusion
659	BMPR2	HP:0005168	Elevated right atrial pressure
659	BMPR2	HP:0001667	Right ventricular hypertrophy
659	BMPR2	HP:0005312	Pulmonary aterial intimal fibrosis
659	BMPR2	HP:0005308	Pulmonary artery vasoconstriction
659	BMPR2	HP:0005317	Increased pulmonary vascular resistance
659	BMPR2	HP:0001708	Right ventricular failure
659	BMPR2	HP:0031687	Abnormally loud pulmonic component of the second heart sound
667	DST	HP:0001188	Hand clenching
667	DST	HP:0001290	Generalized hypotonia
667	DST	HP:0001284	Areflexia
667	DST	HP:0001252	Hypotonia
667	DST	HP:0001371	Flexion contracture
667	DST	HP:0000007	Autosomal recessive inheritance
667	DST	HP:0001319	Neonatal hypotonia
667	DST	HP:0002643	Neonatal respiratory distress
667	DST	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology
667	DST	HP:0000194	Open mouth
667	DST	HP:0007610	Blotching pigmentation of the skin
667	DST	HP:0002020	Gastroesophageal reflux
667	DST	HP:0002033	Poor suck
667	DST	HP:0002104	Apnea
667	DST	HP:0003593	Infantile onset
667	DST	HP:0008404	Nail dystrophy
667	DST	HP:0011968	Feeding difficulties
667	DST	HP:0001075	Atrophic scars
667	DST	HP:0010783	Erythema
667	DST	HP:0001945	Fever
667	DST	HP:0012736	Profound global developmental delay
667	DST	HP:0000763	Sensory neuropathy
667	DST	HP:0012822	Bilateral vocal cord paresis
667	DST	HP:0003093	Limited hip extension
667	DST	HP:0034252	Absent corneal reflex
667	DST	HP:0000822	Hypertension
667	DST	HP:0010307	Stridor
667	DST	HP:0000975	Hyperhidrosis
667	DST	HP:0000972	Palmoplantar hyperkeratosis
667	DST	HP:0033031	Hyperpyrexia
667	DST	HP:0008066	Abnormal blistering of the skin
667	DST	HP:0000218	High palate
667	DST	HP:0002835	Aspiration
667	DST	HP:0001511	Intrauterine growth retardation
667	DST	HP:0001510	Growth delay
667	DST	HP:0000369	Low-set ears
667	DST	HP:0001649	Tachycardia
667	DST	HP:0000331	Short chin
667	DST	HP:0001662	Bradycardia
667	DST	HP:0001629	Ventricular septal defect
667	DST	HP:0001623	Breech presentation
667	DST	HP:0001762	Talipes equinovarus
667	DST	HP:0000522	Alacrima
667	DST	HP:0001810	Dystrophic toenail
667	DST	HP:0000559	Corneal scarring
667	DST	HP:0000573	Retinal hemorrhage
668	FOXL2	HP:0002553	Highly arched eyebrow
668	FOXL2	HP:0000013	Hypoplasia of the uterus
668	FOXL2	HP:0000006	Autosomal dominant inheritance
668	FOXL2	HP:0000144	Decreased fertility
668	FOXL2	HP:0000141	Amenorrhea
668	FOXL2	HP:0000147	Polycystic ovaries
668	FOXL2	HP:0007656	Lacrimal gland aplasia
668	FOXL2	HP:0032514	Duplicated lacrimal punctum
668	FOXL2	HP:0010464	Streak ovary
668	FOXL2	HP:0008233	Decreased circulating progesterone
668	FOXL2	HP:0008232	Elevated circulating follicle stimulating hormone level
668	FOXL2	HP:0008222	Female infertility
668	FOXL2	HP:0008209	Premature ovarian insufficiency
668	FOXL2	HP:0008214	Decreased serum estradiol
668	FOXL2	HP:0002225	Sparse pubic hair
668	FOXL2	HP:0011969	Elevated circulating luteinizing hormone level
668	FOXL2	HP:0010748	Ectopic lacrimal punctum
668	FOXL2	HP:0000639	Nystagmus
668	FOXL2	HP:0000633	Decreased lacrimation
668	FOXL2	HP:0000646	Amblyopia
668	FOXL2	HP:0000656	Ectropion
668	FOXL2	HP:0000769	Abnormality of the breast
668	FOXL2	HP:0011481	Abnormal lacrimal duct morphology
668	FOXL2	HP:0000876	Oligomenorrhea
668	FOXL2	HP:0000858	Irregular menstruation
668	FOXL2	HP:0000869	Secondary amenorrhea
668	FOXL2	HP:0000837	Increased circulating gonadotropin level
668	FOXL2	HP:0000815	Hypergonadotropic hypogonadism
668	FOXL2	HP:0025572	Punctal stenosis
668	FOXL2	HP:0007732	Lacrimal gland hypoplasia
668	FOXL2	HP:0000218	High palate
668	FOXL2	HP:0007835	S-shaped palpebral fissures
668	FOXL2	HP:0000378	Cupped ear
668	FOXL2	HP:0000369	Low-set ears
668	FOXL2	HP:0000322	Short philtrum
668	FOXL2	HP:0005280	Depressed nasal bridge
668	FOXL2	HP:0000486	Strabismus
668	FOXL2	HP:0000482	Microcornea
668	FOXL2	HP:0000431	Wide nasal bridge
668	FOXL2	HP:0000506	Telecanthus
668	FOXL2	HP:0000508	Ptosis
668	FOXL2	HP:0000581	Blepharophimosis
668	FOXL2	HP:0000574	Thick eyebrow
668	FOXL2	HP:0000568	Microphthalmia
668	FOXL2	HP:0000540	Hypermetropia
668	FOXL2	HP:0000539	Abnormality of refraction
668	FOXL2	HP:0000537	Epicanthus inversus
669	BPGM	HP:0000007	Autosomal recessive inheritance
669	BPGM	HP:0003581	Adult onset
669	BPGM	HP:0001900	Increased hemoglobin
669	BPGM	HP:0001901	Polycythemia
669	BPGM	HP:0001744	Splenomegaly
669	BPGM	HP:0001899	Increased hematocrit
672	BRCA1	HP:0001172	Abnormal thumb morphology
672	BRCA1	HP:0001199	Triphalangeal thumb
672	BRCA1	HP:0008572	External ear malformation
672	BRCA1	HP:0002414	Spina bifida
672	BRCA1	HP:0002586	Peritonitis
672	BRCA1	HP:0001251	Ataxia
672	BRCA1	HP:0001249	Intellectual disability
672	BRCA1	HP:0001263	Global developmental delay
672	BRCA1	HP:0002575	Tracheoesophageal fistula
672	BRCA1	HP:0006101	Finger syndactyly
672	BRCA1	HP:0007400	Irregular hyperpigmentation
672	BRCA1	HP:0100867	Duodenal stenosis
672	BRCA1	HP:0008678	Renal hypoplasia/aplasia
672	BRCA1	HP:0000083	Renal insufficiency
672	BRCA1	HP:0001392	Abnormality of the liver
672	BRCA1	HP:0000079	Abnormality of the urinary system
672	BRCA1	HP:0000072	Hydroureter
672	BRCA1	HP:0012041	Decreased fertility in males
672	BRCA1	HP:0000047	Hypospadias
672	BRCA1	HP:0025318	Ovarian carcinoma
672	BRCA1	HP:0001347	Hyperreflexia
672	BRCA1	HP:0000035	Abnormal testis morphology
672	BRCA1	HP:0000028	Cryptorchidism
672	BRCA1	HP:0000027	Azoospermia
672	BRCA1	HP:0007565	Multiple cafe-au-lait spots
672	BRCA1	HP:0002664	Neoplasm
672	BRCA1	HP:0000010	Recurrent urinary tract infections
672	BRCA1	HP:0000007	Autosomal recessive inheritance
672	BRCA1	HP:0000006	Autosomal dominant inheritance
672	BRCA1	HP:0002650	Scoliosis
672	BRCA1	HP:0000189	Narrow palate
672	BRCA1	HP:0000175	Cleft palate
672	BRCA1	HP:0012125	Prostate cancer
672	BRCA1	HP:0000135	Hypogonadism
672	BRCA1	HP:0006265	Aplasia/Hypoplasia of fingers
672	BRCA1	HP:0000130	Abnormality of the uterus
672	BRCA1	HP:0001426	Multifactorial inheritance
672	BRCA1	HP:0001428	Somatic mutation
672	BRCA1	HP:0001433	Hepatosplenomegaly
672	BRCA1	HP:0002716	Lymphadenopathy
672	BRCA1	HP:0002023	Anal atresia
672	BRCA1	HP:0002019	Constipation
672	BRCA1	HP:0002017	Nausea and vomiting
672	BRCA1	HP:0002027	Abdominal pain
672	BRCA1	HP:0002007	Frontal bossing
672	BRCA1	HP:0100542	Abnormal localization of kidney
672	BRCA1	HP:0002039	Anorexia
672	BRCA1	HP:0100574	Biliary tract neoplasm
672	BRCA1	HP:0100592	Peritoneal abscess
672	BRCA1	HP:0100587	Abnormal preputium morphology
672	BRCA1	HP:0010469	Absent testis
672	BRCA1	HP:0002119	Ventriculomegaly
672	BRCA1	HP:0003418	Back pain
672	BRCA1	HP:0009623	Proximal placement of thumb
672	BRCA1	HP:0003596	Middle age onset
672	BRCA1	HP:0002245	Meckel diverticulum
672	BRCA1	HP:0002254	Intermittent diarrhea
672	BRCA1	HP:0002251	Aganglionic megacolon
672	BRCA1	HP:0100760	Clubbing of toes
672	BRCA1	HP:0011985	Acholic stools
672	BRCA1	HP:0001053	Hypopigmented skin patches
672	BRCA1	HP:0001000	Abnormality of skin pigmentation
672	BRCA1	HP:0100615	Ovarian neoplasm
672	BRCA1	HP:0004209	Clinodactyly of the 5th finger
672	BRCA1	HP:0005522	Pyridoxine-responsive sideroblastic anemia
672	BRCA1	HP:0006824	Cranial nerve paralysis
672	BRCA1	HP:0000639	Nystagmus
672	BRCA1	HP:0001945	Fever
672	BRCA1	HP:0001903	Anemia
672	BRCA1	HP:0000689	Dental malocclusion
672	BRCA1	HP:0012639	Abnormal nervous system morphology
672	BRCA1	HP:0004322	Short stature
672	BRCA1	HP:0003002	Breast carcinoma
672	BRCA1	HP:0003003	Colon cancer
672	BRCA1	HP:0004389	Intestinal pseudo-obstruction
672	BRCA1	HP:0004396	Poor appetite
672	BRCA1	HP:0003022	Hypoplasia of the ulna
672	BRCA1	HP:0004349	Reduced bone mineral density
672	BRCA1	HP:0012745	Short palpebral fissure
672	BRCA1	HP:0100026	Arteriovenous malformation
672	BRCA1	HP:0000750	Delayed speech and language development
672	BRCA1	HP:0011463	Childhood onset
672	BRCA1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
672	BRCA1	HP:0000819	Diabetes mellitus
672	BRCA1	HP:0000813	Bicornuate uterus
672	BRCA1	HP:0010293	Aplasia/Hypoplasia of the uvula
672	BRCA1	HP:0040012	Chromosome breakage
672	BRCA1	HP:0040071	Abnormal morphology of ulna
672	BRCA1	HP:0003220	Abnormality of chromosome stability
672	BRCA1	HP:0003270	Abdominal distention
672	BRCA1	HP:0000989	Pruritus
672	BRCA1	HP:0000952	Jaundice
672	BRCA1	HP:0008070	Sparse hair
672	BRCA1	HP:0008053	Aplasia/Hypoplasia of the iris
672	BRCA1	HP:0000286	Epicanthus
672	BRCA1	HP:0000280	Coarse facial features
672	BRCA1	HP:0000294	Low anterior hairline
672	BRCA1	HP:0000268	Dolichocephaly
672	BRCA1	HP:0002817	Abnormality of the upper limb
672	BRCA1	HP:0002827	Hip dislocation
672	BRCA1	HP:0002823	Abnormality of femur morphology
672	BRCA1	HP:0030084	Clinodactyly
672	BRCA1	HP:0001572	Macrodontia
672	BRCA1	HP:0000238	Hydrocephalus
672	BRCA1	HP:0002896	Neoplasm of the liver
672	BRCA1	HP:0000252	Microcephaly
672	BRCA1	HP:0012210	Abnormal renal morphology
672	BRCA1	HP:0000218	High palate
672	BRCA1	HP:0000215	Thick upper lip vermilion
672	BRCA1	HP:0002894	Neoplasm of the pancreas
672	BRCA1	HP:0001562	Oligohydramnios
672	BRCA1	HP:0002861	Melanoma
672	BRCA1	HP:0001537	Umbilical hernia
672	BRCA1	HP:0002863	Myelodysplasia
672	BRCA1	HP:0001508	Failure to thrive
672	BRCA1	HP:0001511	Intrauterine growth retardation
672	BRCA1	HP:0001510	Growth delay
672	BRCA1	HP:0006501	Aplasia/Hypoplasia of the radius
672	BRCA1	HP:0012378	Fatigue
672	BRCA1	HP:0011027	Abnormal fallopian tube morphology
672	BRCA1	HP:0005249	Functional intestinal obstruction
672	BRCA1	HP:0007874	Almond-shaped palpebral fissure
672	BRCA1	HP:0002910	Elevated hepatic transaminase
672	BRCA1	HP:0000365	Hearing impairment
672	BRCA1	HP:0000364	Hearing abnormality
672	BRCA1	HP:0012334	Extrahepatic cholestasis
672	BRCA1	HP:0001671	Abnormal cardiac septum morphology
672	BRCA1	HP:0000340	Sloping forehead
672	BRCA1	HP:0001679	Abnormal aortic morphology
672	BRCA1	HP:0000347	Micrognathia
672	BRCA1	HP:0000316	Hypertelorism
672	BRCA1	HP:0001646	Abnormal aortic valve morphology
672	BRCA1	HP:0001643	Patent ductus arteriosus
672	BRCA1	HP:0000324	Facial asymmetry
672	BRCA1	HP:0001639	Hypertrophic cardiomyopathy
672	BRCA1	HP:0001636	Tetralogy of Fallot
672	BRCA1	HP:0001631	Atrial septal defect
672	BRCA1	HP:0005344	Abnormal carotid artery morphology
672	BRCA1	HP:0001738	Exocrine pancreatic insufficiency
672	BRCA1	HP:0000483	Astigmatism
672	BRCA1	HP:0000486	Strabismus
672	BRCA1	HP:0000478	Abnormality of the eye
672	BRCA1	HP:0000492	Abnormal eyelid morphology
672	BRCA1	HP:0000463	Anteverted nares
672	BRCA1	HP:0001770	Toe syndactyly
672	BRCA1	HP:0012432	Chronic fatigue
672	BRCA1	HP:0001763	Pes planus
672	BRCA1	HP:0000453	Choanal atresia
672	BRCA1	HP:0001760	Abnormal foot morphology
672	BRCA1	HP:0000430	Underdeveloped nasal alae
672	BRCA1	HP:0000426	Prominent nasal bridge
672	BRCA1	HP:0006725	Pancreatic adenocarcinoma
672	BRCA1	HP:0030406	Primary peritoneal carcinoma
672	BRCA1	HP:0000518	Cataract
672	BRCA1	HP:0000527	Long eyelashes
672	BRCA1	HP:0000520	Proptosis
672	BRCA1	HP:0001824	Weight loss
672	BRCA1	HP:0000508	Ptosis
672	BRCA1	HP:0000505	Visual impairment
672	BRCA1	HP:0000504	Abnormality of vision
672	BRCA1	HP:0000582	Upslanted palpebral fissure
672	BRCA1	HP:0000581	Blepharophimosis
672	BRCA1	HP:0000568	Microphthalmia
672	BRCA1	HP:0001871	Abnormality of blood and blood-forming tissues
672	BRCA1	HP:0001882	Leukopenia
672	BRCA1	HP:0001873	Thrombocytopenia
673	BRAF	HP:0001187	Hyperextensibility of the finger joints
673	BRAF	HP:0001156	Brachydactyly
673	BRAF	HP:0001123	Visual field defect
673	BRAF	HP:0001117	Sudden loss of visual acuity
673	BRAF	HP:0010939	Abnormal nasal bone morphology
673	BRAF	HP:0008625	Severe sensorineural hearing impairment
673	BRAF	HP:0009908	Anterior creases of earlobe
673	BRAF	HP:0010885	Avascular necrosis
673	BRAF	HP:0009891	Underdeveloped supraorbital ridges
673	BRAF	HP:0001297	Stroke
673	BRAF	HP:0025269	Panic attack
673	BRAF	HP:0001290	Generalized hypotonia
673	BRAF	HP:0001276	Hypertonia
673	BRAF	HP:0001256	Intellectual disability, mild
673	BRAF	HP:0001250	Seizure
673	BRAF	HP:0001252	Hypotonia
673	BRAF	HP:0001249	Intellectual disability
673	BRAF	HP:0001260	Dysarthria
673	BRAF	HP:0002591	Polyphagia
673	BRAF	HP:0001263	Global developmental delay
673	BRAF	HP:0001262	Excessive daytime somnolence
673	BRAF	HP:0001259	Coma
673	BRAF	HP:0007440	Generalized hyperpigmentation
673	BRAF	HP:0007429	Few cafe-au-lait spots
673	BRAF	HP:0100840	Aplasia/Hypoplasia of the eyebrow
673	BRAF	HP:0007392	Excessive wrinkled skin
673	BRAF	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
673	BRAF	HP:0007333	Hypoplasia of the frontal lobes
673	BRAF	HP:0002516	Increased intracranial pressure
673	BRAF	HP:0002514	Cerebral calcification
673	BRAF	HP:0025383	Dorsocervical fat pad
673	BRAF	HP:0012059	Lentigo maligna melanoma
673	BRAF	HP:0012056	Cutaneous melanoma
673	BRAF	HP:0000078	Abnormality of the genital system
673	BRAF	HP:0000044	Hypogonadotropic hypogonadism
673	BRAF	HP:0012030	Increased urinary cortisol level
673	BRAF	HP:0001382	Joint hypermobility
673	BRAF	HP:0000047	Hypospadias
673	BRAF	HP:0002690	Large sella turcica
673	BRAF	HP:0000028	Cryptorchidism
673	BRAF	HP:0007565	Multiple cafe-au-lait spots
673	BRAF	HP:0008897	Postnatal growth retardation
673	BRAF	HP:0008872	Feeding difficulties in infancy
673	BRAF	HP:0007543	Epidermal hyperkeratosis
673	BRAF	HP:0006191	Deep palmar crease
673	BRAF	HP:0031162	Impaired oropharyngeal swallow response
673	BRAF	HP:0002659	Increased susceptibility to fractures
673	BRAF	HP:0001324	Muscle weakness
673	BRAF	HP:0000006	Autosomal dominant inheritance
673	BRAF	HP:0002637	Cerebral ischemia
673	BRAF	HP:0002650	Scoliosis
673	BRAF	HP:0001319	Neonatal hypotonia
673	BRAF	HP:0002617	Vascular dilatation
673	BRAF	HP:0000194	Open mouth
673	BRAF	HP:0000164	Abnormality of the dentition
673	BRAF	HP:0000176	Submucous cleft hard palate
673	BRAF	HP:0000175	Cleft palate
673	BRAF	HP:0000144	Decreased fertility
673	BRAF	HP:0000141	Amenorrhea
673	BRAF	HP:0000135	Hypogonadism
673	BRAF	HP:0001480	Freckling
673	BRAF	HP:0001482	Subcutaneous nodule
673	BRAF	HP:0031284	Flushing
673	BRAF	HP:0002705	High, narrow palate
673	BRAF	HP:0500011	Moon facies
673	BRAF	HP:0000126	Hydronephrosis
673	BRAF	HP:0001428	Somatic mutation
673	BRAF	HP:0002751	Kyphoscoliosis
673	BRAF	HP:0002750	Delayed skeletal maturation
673	BRAF	HP:0002719	Recurrent infections
673	BRAF	HP:0002721	Immunodeficiency
673	BRAF	HP:0002020	Gastroesophageal reflux
673	BRAF	HP:0002019	Constipation
673	BRAF	HP:0002017	Nausea and vomiting
673	BRAF	HP:0002033	Poor suck
673	BRAF	HP:0002031	Abnormal esophagus morphology
673	BRAF	HP:0002002	Deep philtrum
673	BRAF	HP:0002015	Dysphagia
673	BRAF	HP:0002013	Vomiting
673	BRAF	HP:0002007	Frontal bossing
673	BRAF	HP:0005978	Type II diabetes mellitus
673	BRAF	HP:0100542	Abnormal localization of kidney
673	BRAF	HP:0002086	Abnormality of the respiratory system
673	BRAF	HP:0100543	Cognitive impairment
673	BRAF	HP:0030939	Palpebral thickening
673	BRAF	HP:0009466	Radial deviation of finger
673	BRAF	HP:0008113	Multiple plantar creases
673	BRAF	HP:0011750	Neoplasm of the anterior pituitary
673	BRAF	HP:0011734	Central adrenal insufficiency
673	BRAF	HP:0011710	Bundle branch block
673	BRAF	HP:0040270	Impaired glucose tolerance
673	BRAF	HP:0003477	Peripheral axonal neuropathy
673	BRAF	HP:0002120	Cerebral cortical atrophy
673	BRAF	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
673	BRAF	HP:0002167	Abnormality of speech or vocalization
673	BRAF	HP:0002162	Low posterior hairline
673	BRAF	HP:0008245	Pituitary hypothyroidism
673	BRAF	HP:0010535	Sleep apnea
673	BRAF	HP:0008221	Adrenal hyperplasia
673	BRAF	HP:0008291	Pituitary corticotropic cell adenoma
673	BRAF	HP:0010576	Intracranial cystic lesion
673	BRAF	HP:0003577	Congenital onset
673	BRAF	HP:0100703	Tongue thrusting
673	BRAF	HP:0100704	Cerebral visual impairment
673	BRAF	HP:0002223	Absent eyebrow
673	BRAF	HP:0002224	Woolly hair
673	BRAF	HP:0200102	Sparse or absent eyelashes
673	BRAF	HP:0002217	Slow-growing hair
673	BRAF	HP:0004859	Amegakaryocytic thrombocytopenia
673	BRAF	HP:0002212	Curly hair
673	BRAF	HP:0002213	Fine hair
673	BRAF	HP:0002209	Sparse scalp hair
673	BRAF	HP:0100769	Synovitis
673	BRAF	HP:0009748	Large earlobe
673	BRAF	HP:0002299	Brittle hair
673	BRAF	HP:0011999	Paranoia
673	BRAF	HP:0010669	Hypoplasia of the zygomatic bone
673	BRAF	HP:0008357	Reduced factor XIII activity
673	BRAF	HP:0004841	Reduced factor XII activity
673	BRAF	HP:0430000	Abnormal frontal bone morphology
673	BRAF	HP:0003508	Proportionate short stature
673	BRAF	HP:0008391	Dystrophic fingernails
673	BRAF	HP:0001058	Poor wound healing
673	BRAF	HP:0001054	Numerous nevi
673	BRAF	HP:0001050	Plethora
673	BRAF	HP:0025017	Capillary fragility
673	BRAF	HP:0001048	Cavernous hemangioma
673	BRAF	HP:0001062	Atypical nevus
673	BRAF	HP:0001065	Striae distensae
673	BRAF	HP:0001061	Acne
673	BRAF	HP:0002360	Sleep disturbance
673	BRAF	HP:0003691	Scapular winging
673	BRAF	HP:0001047	Atopic dermatitis
673	BRAF	HP:0001004	Lymphedema
673	BRAF	HP:0001007	Hirsutism
673	BRAF	HP:0002353	EEG abnormality
673	BRAF	HP:0002354	Memory impairment
673	BRAF	HP:0002321	Vertigo
673	BRAF	HP:0002315	Headache
673	BRAF	HP:0001003	Multiple lentigines
673	BRAF	HP:0200034	Papule
673	BRAF	HP:0010815	Nevus sebaceous
673	BRAF	HP:0010807	Open bite
673	BRAF	HP:0001093	Optic nerve dysplasia
673	BRAF	HP:0001074	Atypical nevi in non-sun exposed areas
673	BRAF	HP:0200042	Skin ulcer
673	BRAF	HP:0001085	Papilledema
673	BRAF	HP:0032152	Keratosis pilaris
673	BRAF	HP:0007126	Proximal amyotrophy
673	BRAF	HP:0100697	Neurofibrosarcoma
673	BRAF	HP:0010741	Pedal edema
673	BRAF	HP:0003623	Neonatal onset
673	BRAF	HP:0004209	Clinodactyly of the 5th finger
673	BRAF	HP:0031845	Abnormal libido
673	BRAF	HP:0030521	Bitemporal hemianopia
673	BRAF	HP:0031891	Decreased eosinophil count
673	BRAF	HP:0005584	Renal cell carcinoma
673	BRAF	HP:0000639	Nystagmus
673	BRAF	HP:0000637	Long palpebral fissure
673	BRAF	HP:0000648	Optic atrophy
673	BRAF	HP:0001974	Leukocytosis
673	BRAF	HP:0001956	Truncal obesity
673	BRAF	HP:0011370	Recurrent cutaneous fungal infections
673	BRAF	HP:0000689	Dental malocclusion
673	BRAF	HP:0000657	Oculomotor apraxia
673	BRAF	HP:0004324	Increased body weight
673	BRAF	HP:0004322	Short stature
673	BRAF	HP:0004306	Abnormal endocardium morphology
673	BRAF	HP:0030680	Abnormality of cardiovascular system morphology
673	BRAF	HP:0003006	Neuroblastoma
673	BRAF	HP:0012743	Abdominal obesity
673	BRAF	HP:0000767	Pectus excavatum
673	BRAF	HP:0000766	Abnormal sternum morphology
673	BRAF	HP:0000768	Pectus carinatum
673	BRAF	HP:0012719	Functional abnormality of the gastrointestinal tract
673	BRAF	HP:0000716	Depression
673	BRAF	HP:0000712	Emotional lability
673	BRAF	HP:0000726	Dementia
673	BRAF	HP:0000725	Psychotic episodes
673	BRAF	HP:0000709	Psychosis
673	BRAF	HP:0000708	Atypical behavior
673	BRAF	HP:0030588	Abnormal visual field test
673	BRAF	HP:0011471	Gastrostomy tube feeding in infancy
673	BRAF	HP:0011470	Nasogastric tube feeding in infancy
673	BRAF	HP:0003118	Increased circulating cortisol level
673	BRAF	HP:0004422	Biparietal narrowing
673	BRAF	HP:0004414	Abnormality of the pulmonary artery
673	BRAF	HP:0003196	Short nose
673	BRAF	HP:0000917	Superior pectus carinatum
673	BRAF	HP:0000914	Shield chest
673	BRAF	HP:0000915	Pectus excavatum of inferior sternum
673	BRAF	HP:0000912	Sprengel anomaly
673	BRAF	HP:0003154	Increased circulating ACTH level
673	BRAF	HP:0004482	Relative macrocephaly
673	BRAF	HP:0000876	Oligomenorrhea
673	BRAF	HP:0000870	Increased circulating prolactin concentration
673	BRAF	HP:0000869	Secondary amenorrhea
673	BRAF	HP:0000863	Central diabetes insipidus
673	BRAF	HP:0000819	Diabetes mellitus
673	BRAF	HP:0000822	Hypertension
673	BRAF	HP:0000823	Delayed puberty
673	BRAF	HP:0010284	Intra-oral hyperpigmentation
673	BRAF	HP:0040075	Hypopituitarism
673	BRAF	HP:0040071	Abnormal morphology of ulna
673	BRAF	HP:0003298	Spina bifida occulta
673	BRAF	HP:0003251	Male infertility
673	BRAF	HP:0000995	Melanocytic nevus
673	BRAF	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
673	BRAF	HP:0010310	Chylothorax
673	BRAF	HP:0000979	Purpura
673	BRAF	HP:0000975	Hyperhidrosis
673	BRAF	HP:0000978	Bruising susceptibility
673	BRAF	HP:0000974	Hyperextensible skin
673	BRAF	HP:0000982	Palmoplantar keratoderma
673	BRAF	HP:0000958	Dry skin
673	BRAF	HP:0000957	Cafe-au-lait spot
673	BRAF	HP:0000953	Hyperpigmentation of the skin
673	BRAF	HP:0000963	Thin skin
673	BRAF	HP:0000962	Hyperkeratosis
673	BRAF	HP:0000939	Osteoporosis
673	BRAF	HP:0000938	Osteopenia
673	BRAF	HP:0008070	Sparse hair
673	BRAF	HP:0008064	Ichthyosis
673	BRAF	HP:0008066	Abnormal blistering of the skin
673	BRAF	HP:0011675	Arrhythmia
673	BRAF	HP:0007716	Uveal melanoma
673	BRAF	HP:0012286	Abnormal hypothalamus morphology
673	BRAF	HP:0000286	Epicanthus
673	BRAF	HP:0000280	Coarse facial features
673	BRAF	HP:0000293	Full cheeks
673	BRAF	HP:0000256	Macrocephaly
673	BRAF	HP:0000276	Long face
673	BRAF	HP:0000271	Abnormality of the face
673	BRAF	HP:0000268	Dolichocephaly
673	BRAF	HP:0030078	Lung adenocarcinoma
673	BRAF	HP:0030084	Clinodactyly
673	BRAF	HP:0000238	Hydrocephalus
673	BRAF	HP:0001582	Redundant skin
673	BRAF	HP:0000248	Brachycephaly
673	BRAF	HP:0012209	Juvenile myelomonocytic leukemia
673	BRAF	HP:0000218	High palate
673	BRAF	HP:0001561	Polyhydramnios
673	BRAF	HP:0002891	Uterine leiomyosarcoma
673	BRAF	HP:0002861	Melanoma
673	BRAF	HP:0001531	Failure to thrive in infancy
673	BRAF	HP:0002857	Genu valgum
673	BRAF	HP:0002863	Myelodysplasia
673	BRAF	HP:0031364	Ecchymosis
673	BRAF	HP:0001508	Failure to thrive
673	BRAF	HP:0001520	Large for gestational age
673	BRAF	HP:0001511	Intrauterine growth retardation
673	BRAF	HP:0001510	Growth delay
673	BRAF	HP:0001513	Obesity
673	BRAF	HP:0007807	Optic nerve compression
673	BRAF	HP:0030200	Fatiguable weakness of proximal limb muscles
673	BRAF	HP:0000391	Thickened helices
673	BRAF	HP:0006519	Alveolar cell carcinoma
673	BRAF	HP:0001608	Abnormality of the voice
673	BRAF	HP:0000365	Hearing impairment
673	BRAF	HP:0011024	Abnormality of the gastrointestinal tract
673	BRAF	HP:0000358	Posteriorly rotated ears
673	BRAF	HP:0000369	Low-set ears
673	BRAF	HP:0000368	Low-set, posteriorly rotated ears
673	BRAF	HP:0000341	Narrow forehead
673	BRAF	HP:0000343	Long philtrum
673	BRAF	HP:0000337	Broad forehead
673	BRAF	HP:0001680	Coarctation of aorta
673	BRAF	HP:0000348	High forehead
673	BRAF	HP:0000347	Micrognathia
673	BRAF	HP:0000316	Hypertelorism
673	BRAF	HP:0001646	Abnormal aortic valve morphology
673	BRAF	HP:0001643	Patent ductus arteriosus
673	BRAF	HP:0001642	Pulmonic stenosis
673	BRAF	HP:0001658	Myocardial infarction
673	BRAF	HP:0001654	Abnormal heart valve morphology
673	BRAF	HP:0000325	Triangular face
673	BRAF	HP:0001629	Ventricular septal defect
673	BRAF	HP:0001626	Abnormality of the cardiovascular system
673	BRAF	HP:0002953	Vertebral compression fracture
673	BRAF	HP:0001622	Premature birth
673	BRAF	HP:0001641	Abnormal pulmonary valve morphology
673	BRAF	HP:0001639	Hypertrophic cardiomyopathy
673	BRAF	HP:0001636	Tetralogy of Fallot
673	BRAF	HP:0000306	Abnormality of the chin
673	BRAF	HP:0002967	Cubitus valgus
673	BRAF	HP:0001631	Atrial septal defect
673	BRAF	HP:0001634	Mitral valve prolapse
673	BRAF	HP:0001633	Abnormal mitral valve morphology
673	BRAF	HP:0006610	Wide intermamillary distance
673	BRAF	HP:0007924	Slow decrease in visual acuity
673	BRAF	HP:0000499	Abnormal eyelash morphology
673	BRAF	HP:0006695	Atrioventricular canal defect
673	BRAF	HP:0007987	Progressive visual field defects
673	BRAF	HP:0000407	Sensorineural hearing impairment
673	BRAF	HP:0000400	Macrotia
673	BRAF	HP:0005280	Depressed nasal bridge
673	BRAF	HP:0000486	Strabismus
673	BRAF	HP:0012471	Thick vermilion border
673	BRAF	HP:0000476	Cystic hygroma
673	BRAF	HP:0000478	Abnormality of the eye
673	BRAF	HP:0000494	Downslanted palpebral fissures
673	BRAF	HP:0000463	Anteverted nares
673	BRAF	HP:0000470	Short neck
673	BRAF	HP:0000465	Webbed neck
673	BRAF	HP:0031589	Suicidal ideation
673	BRAF	HP:0000414	Bulbous nose
673	BRAF	HP:0001744	Splenomegaly
673	BRAF	HP:0000431	Wide nasal bridge
673	BRAF	HP:0006753	Neoplasm of the stomach
673	BRAF	HP:0006740	Transitional cell carcinoma of the bladder
673	BRAF	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
673	BRAF	HP:0012505	Enlarged pituitary gland
673	BRAF	HP:0000529	Progressive visual loss
673	BRAF	HP:0000520	Proptosis
673	BRAF	HP:0000508	Ptosis
673	BRAF	HP:0000504	Abnormality of vision
673	BRAF	HP:0030358	Non-small cell lung carcinoma
673	BRAF	HP:0001892	Abnormal bleeding
673	BRAF	HP:0000561	Absent eyelashes
673	BRAF	HP:0011220	Prominent forehead
673	BRAF	HP:0001888	Lymphopenia
673	BRAF	HP:0000545	Myopia
675	BRCA2	HP:0001172	Abnormal thumb morphology
675	BRCA2	HP:0001199	Triphalangeal thumb
675	BRCA2	HP:0008572	External ear malformation
675	BRCA2	HP:0002414	Spina bifida
675	BRCA2	HP:0001249	Intellectual disability
675	BRCA2	HP:0001263	Global developmental delay
675	BRCA2	HP:0002575	Tracheoesophageal fistula
675	BRCA2	HP:0006101	Finger syndactyly
675	BRCA2	HP:0007400	Irregular hyperpigmentation
675	BRCA2	HP:0100867	Duodenal stenosis
675	BRCA2	HP:0008678	Renal hypoplasia/aplasia
675	BRCA2	HP:0003829	Typified by incomplete penetrance
675	BRCA2	HP:0000083	Renal insufficiency
675	BRCA2	HP:0001392	Abnormality of the liver
675	BRCA2	HP:0000079	Abnormality of the urinary system
675	BRCA2	HP:0000072	Hydroureter
675	BRCA2	HP:0012041	Decreased fertility in males
675	BRCA2	HP:0000047	Hypospadias
675	BRCA2	HP:0025318	Ovarian carcinoma
675	BRCA2	HP:0001347	Hyperreflexia
675	BRCA2	HP:0000035	Abnormal testis morphology
675	BRCA2	HP:0000028	Cryptorchidism
675	BRCA2	HP:0000027	Azoospermia
675	BRCA2	HP:0007565	Multiple cafe-au-lait spots
675	BRCA2	HP:0002664	Neoplasm
675	BRCA2	HP:0000010	Recurrent urinary tract infections
675	BRCA2	HP:0000007	Autosomal recessive inheritance
675	BRCA2	HP:0002667	Nephroblastoma
675	BRCA2	HP:0000006	Autosomal dominant inheritance
675	BRCA2	HP:0002650	Scoliosis
675	BRCA2	HP:0012174	Glioblastoma multiforme
675	BRCA2	HP:0000175	Cleft palate
675	BRCA2	HP:0012125	Prostate cancer
675	BRCA2	HP:0000135	Hypogonadism
675	BRCA2	HP:0006265	Aplasia/Hypoplasia of fingers
675	BRCA2	HP:0000130	Abnormality of the uterus
675	BRCA2	HP:0001428	Somatic mutation
675	BRCA2	HP:0001433	Hepatosplenomegaly
675	BRCA2	HP:0002716	Lymphadenopathy
675	BRCA2	HP:0002023	Anal atresia
675	BRCA2	HP:0002017	Nausea and vomiting
675	BRCA2	HP:0002027	Abdominal pain
675	BRCA2	HP:0002007	Frontal bossing
675	BRCA2	HP:0100526	Neoplasm of the lung
675	BRCA2	HP:0100542	Abnormal localization of kidney
675	BRCA2	HP:0002039	Anorexia
675	BRCA2	HP:0100574	Biliary tract neoplasm
675	BRCA2	HP:0100592	Peritoneal abscess
675	BRCA2	HP:0100587	Abnormal preputium morphology
675	BRCA2	HP:0010469	Absent testis
675	BRCA2	HP:0002119	Ventriculomegaly
675	BRCA2	HP:0003418	Back pain
675	BRCA2	HP:0009592	Astrocytoma
675	BRCA2	HP:0002245	Meckel diverticulum
675	BRCA2	HP:0002254	Intermittent diarrhea
675	BRCA2	HP:0002251	Aganglionic megacolon
675	BRCA2	HP:0100760	Clubbing of toes
675	BRCA2	HP:0011985	Acholic stools
675	BRCA2	HP:0004808	Acute myeloid leukemia
675	BRCA2	HP:0001053	Hypopigmented skin patches
675	BRCA2	HP:0001000	Abnormality of skin pigmentation
675	BRCA2	HP:0100615	Ovarian neoplasm
675	BRCA2	HP:0009778	Short thumb
675	BRCA2	HP:0005528	Bone marrow hypocellularity
675	BRCA2	HP:0004209	Clinodactyly of the 5th finger
675	BRCA2	HP:0005522	Pyridoxine-responsive sideroblastic anemia
675	BRCA2	HP:0006824	Cranial nerve paralysis
675	BRCA2	HP:0000639	Nystagmus
675	BRCA2	HP:0001945	Fever
675	BRCA2	HP:0001903	Anemia
675	BRCA2	HP:0012639	Abnormal nervous system morphology
675	BRCA2	HP:0004322	Short stature
675	BRCA2	HP:0003002	Breast carcinoma
675	BRCA2	HP:0003003	Colon cancer
675	BRCA2	HP:0004389	Intestinal pseudo-obstruction
675	BRCA2	HP:0004396	Poor appetite
675	BRCA2	HP:0003022	Hypoplasia of the ulna
675	BRCA2	HP:0004349	Reduced bone mineral density
675	BRCA2	HP:0012745	Short palpebral fissure
675	BRCA2	HP:0100026	Arteriovenous malformation
675	BRCA2	HP:0011462	Young adult onset
675	BRCA2	HP:0000790	Hematuria
675	BRCA2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
675	BRCA2	HP:0000819	Diabetes mellitus
675	BRCA2	HP:0000813	Bicornuate uterus
675	BRCA2	HP:0000822	Hypertension
675	BRCA2	HP:0010293	Aplasia/Hypoplasia of the uvula
675	BRCA2	HP:0040071	Abnormal morphology of ulna
675	BRCA2	HP:0003220	Abnormality of chromosome stability
675	BRCA2	HP:0003221	Chromosomal breakage induced by crosslinking agents
675	BRCA2	HP:0000989	Pruritus
675	BRCA2	HP:0000957	Cafe-au-lait spot
675	BRCA2	HP:0000952	Jaundice
675	BRCA2	HP:0008053	Aplasia/Hypoplasia of the iris
675	BRCA2	HP:0000286	Epicanthus
675	BRCA2	HP:0000268	Dolichocephaly
675	BRCA2	HP:0002817	Abnormality of the upper limb
675	BRCA2	HP:0002827	Hip dislocation
675	BRCA2	HP:0002823	Abnormality of femur morphology
675	BRCA2	HP:0000238	Hydrocephalus
675	BRCA2	HP:0002896	Neoplasm of the liver
675	BRCA2	HP:0000252	Microcephaly
675	BRCA2	HP:0012210	Abnormal renal morphology
675	BRCA2	HP:0000218	High palate
675	BRCA2	HP:0002894	Neoplasm of the pancreas
675	BRCA2	HP:0001562	Oligohydramnios
675	BRCA2	HP:0002885	Medulloblastoma
675	BRCA2	HP:0002861	Melanoma
675	BRCA2	HP:0001537	Umbilical hernia
675	BRCA2	HP:0002863	Myelodysplasia
675	BRCA2	HP:0001508	Failure to thrive
675	BRCA2	HP:0001511	Intrauterine growth retardation
675	BRCA2	HP:0001510	Growth delay
675	BRCA2	HP:0006501	Aplasia/Hypoplasia of the radius
675	BRCA2	HP:0012378	Fatigue
675	BRCA2	HP:0011027	Abnormal fallopian tube morphology
675	BRCA2	HP:0005249	Functional intestinal obstruction
675	BRCA2	HP:0007874	Almond-shaped palpebral fissure
675	BRCA2	HP:0002910	Elevated hepatic transaminase
675	BRCA2	HP:0000365	Hearing impairment
675	BRCA2	HP:0000364	Hearing abnormality
675	BRCA2	HP:0012334	Extrahepatic cholestasis
675	BRCA2	HP:0001671	Abnormal cardiac septum morphology
675	BRCA2	HP:0000340	Sloping forehead
675	BRCA2	HP:0001679	Abnormal aortic morphology
675	BRCA2	HP:0000347	Micrognathia
675	BRCA2	HP:0000316	Hypertelorism
675	BRCA2	HP:0001646	Abnormal aortic valve morphology
675	BRCA2	HP:0001643	Patent ductus arteriosus
675	BRCA2	HP:0000324	Facial asymmetry
675	BRCA2	HP:0001639	Hypertrophic cardiomyopathy
675	BRCA2	HP:0001636	Tetralogy of Fallot
675	BRCA2	HP:0001631	Atrial septal defect
675	BRCA2	HP:0005344	Abnormal carotid artery morphology
675	BRCA2	HP:0001738	Exocrine pancreatic insufficiency
675	BRCA2	HP:0000483	Astigmatism
675	BRCA2	HP:0000486	Strabismus
675	BRCA2	HP:0000478	Abnormality of the eye
675	BRCA2	HP:0000492	Abnormal eyelid morphology
675	BRCA2	HP:0001770	Toe syndactyly
675	BRCA2	HP:0012432	Chronic fatigue
675	BRCA2	HP:0001763	Pes planus
675	BRCA2	HP:0000453	Choanal atresia
675	BRCA2	HP:0001760	Abnormal foot morphology
675	BRCA2	HP:0006725	Pancreatic adenocarcinoma
675	BRCA2	HP:0006727	T-cell acute lymphoblastic leukemias
675	BRCA2	HP:0030406	Primary peritoneal carcinoma
675	BRCA2	HP:0000518	Cataract
675	BRCA2	HP:0000526	Aniridia
675	BRCA2	HP:0000520	Proptosis
675	BRCA2	HP:0001824	Weight loss
675	BRCA2	HP:0000508	Ptosis
675	BRCA2	HP:0000505	Visual impairment
675	BRCA2	HP:0000504	Abnormality of vision
675	BRCA2	HP:0000582	Upslanted palpebral fissure
675	BRCA2	HP:0000568	Microphthalmia
675	BRCA2	HP:0001871	Abnormality of blood and blood-forming tissues
675	BRCA2	HP:0001882	Leukopenia
675	BRCA2	HP:0001873	Thrombocytopenia
676	BRDT	HP:0000007	Autosomal recessive inheritance
676	BRDT	HP:0000789	Infertility
676	BRDT	HP:0012869	Acephalic spermatozoa
676	BRDT	HP:0012207	Reduced sperm motility
678	ZFP36L2	HP:0033712	Repeated implantation failure
678	ZFP36L2	HP:0000007	Autosomal recessive inheritance
678	ZFP36L2	HP:0008222	Female infertility
678	ZFP36L2	HP:0011462	Young adult onset
686	BTD	HP:0001138	Optic neuropathy
686	BTD	HP:0410145	Decreased circulating biotinidase concentration
686	BTD	HP:0001254	Lethargy
686	BTD	HP:0001250	Seizure
686	BTD	HP:0001252	Hypotonia
686	BTD	HP:0001251	Ataxia
686	BTD	HP:0001249	Intellectual disability
686	BTD	HP:0001263	Global developmental delay
686	BTD	HP:0410263	Brain imaging abnormality
686	BTD	HP:0002506	Diffuse cerebral atrophy
686	BTD	HP:0008872	Feeding difficulties in infancy
686	BTD	HP:0000007	Autosomal recessive inheritance
686	BTD	HP:0002789	Tachypnea
686	BTD	HP:0002715	Abnormality of the immune system
686	BTD	HP:0002014	Diarrhea
686	BTD	HP:0002013	Vomiting
686	BTD	HP:0005979	Metabolic ketoacidosis
686	BTD	HP:0002098	Respiratory distress
686	BTD	HP:0002069	Bilateral tonic-clonic seizure
686	BTD	HP:0002123	Generalized myoclonic seizure
686	BTD	HP:0002104	Apnea
686	BTD	HP:0002196	Myelopathy
686	BTD	HP:0003593	Infantile onset
686	BTD	HP:0002240	Hepatomegaly
686	BTD	HP:0001051	Seborrheic dermatitis
686	BTD	HP:0003690	Limb muscle weakness
686	BTD	HP:0002313	Spastic paraparesis
686	BTD	HP:0200068	Nonprogressive visual loss
686	BTD	HP:0000648	Optic atrophy
686	BTD	HP:0001992	Organic aciduria
686	BTD	HP:0001987	Hyperammonemia
686	BTD	HP:0000707	Abnormality of the nervous system
686	BTD	HP:0011463	Childhood onset
686	BTD	HP:0004429	Recurrent viral infections
686	BTD	HP:0100275	Diffuse cerebellar atrophy
686	BTD	HP:0000976	Eczematoid dermatitis
686	BTD	HP:0000988	Skin rash
686	BTD	HP:0001596	Alopecia
686	BTD	HP:0001581	Recurrent skin infections
686	BTD	HP:0002883	Hyperventilation
686	BTD	HP:0002841	Recurrent fungal infections
686	BTD	HP:0006511	Laryngeal stridor
686	BTD	HP:0000365	Hearing impairment
686	BTD	HP:0011153	Focal motor seizure
686	BTD	HP:0000407	Sensorineural hearing impairment
686	BTD	HP:0012469	Infantile spasms
686	BTD	HP:0000478	Abnormality of the eye
686	BTD	HP:0001744	Splenomegaly
686	BTD	HP:0005401	Recurrent candida infections
686	BTD	HP:0000509	Conjunctivitis
686	BTD	HP:0000575	Scotoma
686	BTD	HP:0000572	Visual loss
695	BTK	HP:0003729	Enteroviral dermatomyositis syndrome
695	BTK	HP:0100806	Sepsis
695	BTK	HP:0001287	Meningitis
695	BTK	HP:0100838	Recurrent cutaneous abscess formation
695	BTK	HP:0410303	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
695	BTK	HP:0010976	B lymphocytopenia
695	BTK	HP:0001369	Arthritis
695	BTK	HP:0000024	Prostatitis
695	BTK	HP:0000031	Epididymitis
695	BTK	HP:0002664	Neoplasm
695	BTK	HP:0000010	Recurrent urinary tract infections
695	BTK	HP:0000162	Glossoptosis
695	BTK	HP:0012115	Hepatitis
695	BTK	HP:0002783	Recurrent lower respiratory tract infections
695	BTK	HP:0002754	Osteomyelitis
695	BTK	HP:0002732	Lymph node hypoplasia
695	BTK	HP:0001402	Hepatocellular carcinoma
695	BTK	HP:0002750	Delayed skeletal maturation
695	BTK	HP:0001419	X-linked recessive inheritance
695	BTK	HP:0001412	Enteroviral hepatitis
695	BTK	HP:0002743	Recurrent enteroviral infections
695	BTK	HP:0002719	Recurrent infections
695	BTK	HP:0002718	Recurrent bacterial infections
695	BTK	HP:0002720	Decreased circulating IgA level
695	BTK	HP:0002721	Immunodeficiency
695	BTK	HP:0002024	Malabsorption
695	BTK	HP:0002028	Chronic diarrhea
695	BTK	HP:0002014	Diarrhea
695	BTK	HP:0002088	Abnormal lung morphology
695	BTK	HP:0002090	Pneumonia
695	BTK	HP:0002110	Bronchiectasis
695	BTK	HP:0011839	Abnormal T cell count
695	BTK	HP:0003593	Infantile onset
695	BTK	HP:0100765	Abnormality of the tonsils
695	BTK	HP:0100763	Abnormality of the lymphatic system
695	BTK	HP:0011946	Bronchiolitis obliterans
695	BTK	HP:0002383	Infectious encephalitis
695	BTK	HP:0001053	Hypopigmented skin patches
695	BTK	HP:0100658	Cellulitis
695	BTK	HP:0200042	Skin ulcer
695	BTK	HP:0003623	Neonatal onset
695	BTK	HP:0003621	Juvenile onset
695	BTK	HP:0001945	Fever
695	BTK	HP:0001903	Anemia
695	BTK	HP:0004322	Short stature
695	BTK	HP:0004315	Decreased circulating IgG level
695	BTK	HP:0000750	Delayed speech and language development
695	BTK	HP:0011463	Childhood onset
695	BTK	HP:0004432	Agammaglobulinemia
695	BTK	HP:0003139	Panhypogammaglobulinemia
695	BTK	HP:0003095	Septic arthritis
695	BTK	HP:0000824	Decreased response to growth hormone stimulation test
695	BTK	HP:0000823	Delayed puberty
695	BTK	HP:0030828	Wheezing
695	BTK	HP:0000999	Pyoderma
695	BTK	HP:0000988	Skin rash
695	BTK	HP:0001596	Alopecia
695	BTK	HP:0000246	Sinusitis
695	BTK	HP:0001508	Failure to thrive
695	BTK	HP:0002850	Decreased circulating total IgM
695	BTK	HP:0012378	Fatigue
695	BTK	HP:0000389	Chronic otitis media
695	BTK	HP:0006532	Recurrent pneumonia
695	BTK	HP:0002901	Hypocalcemia
695	BTK	HP:0000365	Hearing impairment
695	BTK	HP:0001648	Cor pulmonale
695	BTK	HP:0002960	Autoimmunity
695	BTK	HP:0000407	Sensorineural hearing impairment
695	BTK	HP:0000403	Recurrent otitis media
695	BTK	HP:0011108	Recurrent sinusitis
695	BTK	HP:0030252	Absent circulating B cells
695	BTK	HP:0005403	T lymphocytopenia
695	BTK	HP:0005479	Decreased circulating IgE
695	BTK	HP:0001824	Weight loss
695	BTK	HP:0000509	Conjunctivitis
695	BTK	HP:0001873	Thrombocytopenia
695	BTK	HP:0001875	Neutropenia
699	BUB1	HP:0025116	Fetal distress
699	BUB1	HP:0009909	Uplifted earlobe
699	BUB1	HP:0010880	Increased nuchal translucency
699	BUB1	HP:0001250	Seizure
699	BUB1	HP:0001252	Hypotonia
699	BUB1	HP:0001249	Intellectual disability
699	BUB1	HP:0001263	Global developmental delay
699	BUB1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
699	BUB1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
699	BUB1	HP:0010978	Abnormality of immune system physiology
699	BUB1	HP:0000062	Ambiguous genitalia
699	BUB1	HP:0000023	Inguinal hernia
699	BUB1	HP:0001360	Holoprosencephaly
699	BUB1	HP:0007565	Multiple cafe-au-lait spots
699	BUB1	HP:0002664	Neoplasm
699	BUB1	HP:0000007	Autosomal recessive inheritance
699	BUB1	HP:0002667	Nephroblastoma
699	BUB1	HP:0000003	Multicystic kidney dysplasia
699	BUB1	HP:0000006	Autosomal dominant inheritance
699	BUB1	HP:0001305	Dandy-Walker malformation
699	BUB1	HP:0000185	Cleft soft palate
699	BUB1	HP:0000175	Cleft palate
699	BUB1	HP:0012126	Stomach cancer
699	BUB1	HP:0002797	Osteolysis
699	BUB1	HP:0002777	Tracheal stenosis
699	BUB1	HP:0001428	Somatic mutation
699	BUB1	HP:0002007	Frontal bossing
699	BUB1	HP:0002120	Cerebral cortical atrophy
699	BUB1	HP:0002119	Ventriculomegaly
699	BUB1	HP:0002101	Abnormal lung lobation
699	BUB1	HP:0002104	Apnea
699	BUB1	HP:0003577	Congenital onset
699	BUB1	HP:0002247	Duodenal atresia
699	BUB1	HP:0003560	Muscular dystrophy
699	BUB1	HP:0001000	Abnormality of skin pigmentation
699	BUB1	HP:0100650	Vaginal neoplasm
699	BUB1	HP:0200008	Intestinal polyposis
699	BUB1	HP:0004209	Clinodactyly of the 5th finger
699	BUB1	HP:0005584	Renal cell carcinoma
699	BUB1	HP:0000637	Long palpebral fissure
699	BUB1	HP:0004322	Short stature
699	BUB1	HP:0003003	Colon cancer
699	BUB1	HP:0030680	Abnormality of cardiovascular system morphology
699	BUB1	HP:0011451	Primary microcephaly
699	BUB1	HP:0000929	Abnormal skull morphology
699	BUB1	HP:0000924	Abnormality of the skeletal system
699	BUB1	HP:0000821	Hypothyroidism
699	BUB1	HP:0000957	Cafe-au-lait spot
699	BUB1	HP:0000956	Acanthosis nigricans
699	BUB1	HP:0000286	Epicanthus
699	BUB1	HP:0002817	Abnormality of the upper limb
699	BUB1	HP:0000252	Microcephaly
699	BUB1	HP:0000219	Thin upper lip vermilion
699	BUB1	HP:0001561	Polyhydramnios
699	BUB1	HP:0002891	Uterine leiomyosarcoma
699	BUB1	HP:0002859	Rhabdomyosarcoma
699	BUB1	HP:0001541	Ascites
699	BUB1	HP:0000201	Pierre-Robin sequence
699	BUB1	HP:0002863	Myelodysplasia
699	BUB1	HP:0001511	Intrauterine growth retardation
699	BUB1	HP:0001510	Growth delay
699	BUB1	HP:0000365	Hearing impairment
699	BUB1	HP:0000368	Low-set, posteriorly rotated ears
699	BUB1	HP:0000340	Sloping forehead
699	BUB1	HP:0001682	Subvalvular aortic stenosis
699	BUB1	HP:0001684	Secundum atrial septal defect
699	BUB1	HP:0001680	Coarctation of aorta
699	BUB1	HP:0001679	Abnormal aortic morphology
699	BUB1	HP:0000348	High forehead
699	BUB1	HP:0000347	Micrognathia
699	BUB1	HP:0001659	Aortic regurgitation
699	BUB1	HP:0000325	Triangular face
699	BUB1	HP:0001631	Atrial septal defect
699	BUB1	HP:0007957	Corneal opacity
699	BUB1	HP:0000478	Abnormality of the eye
699	BUB1	HP:0000494	Downslanted palpebral fissures
699	BUB1	HP:0000457	Depressed nasal ridge
699	BUB1	HP:0000452	Choanal stenosis
699	BUB1	HP:0000445	Wide nose
699	BUB1	HP:0006753	Neoplasm of the stomach
699	BUB1	HP:0006740	Transitional cell carcinoma of the bladder
699	BUB1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
699	BUB1	HP:0006721	Acute lymphoblastic leukemia
699	BUB1	HP:0000518	Cataract
699	BUB1	HP:0000504	Abnormality of vision
699	BUB1	HP:0000501	Glaucoma
699	BUB1	HP:0000568	Microphthalmia
701	BUB1B	HP:0002445	Tetraplegia
701	BUB1B	HP:0010880	Increased nuchal translucency
701	BUB1B	HP:0001290	Generalized hypotonia
701	BUB1B	HP:0001274	Agenesis of corpus callosum
701	BUB1B	HP:0001250	Seizure
701	BUB1B	HP:0001252	Hypotonia
701	BUB1B	HP:0001249	Intellectual disability
701	BUB1B	HP:0001263	Global developmental delay
701	BUB1B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
701	BUB1B	HP:0007360	Aplasia/Hypoplasia of the cerebellum
701	BUB1B	HP:0010978	Abnormality of immune system physiology
701	BUB1B	HP:0000062	Ambiguous genitalia
701	BUB1B	HP:0000054	Micropenis
701	BUB1B	HP:0000048	Bifid scrotum
701	BUB1B	HP:0000047	Hypospadias
701	BUB1B	HP:0001360	Holoprosencephaly
701	BUB1B	HP:0000028	Cryptorchidism
701	BUB1B	HP:0007565	Multiple cafe-au-lait spots
701	BUB1B	HP:0008897	Postnatal growth retardation
701	BUB1B	HP:0008872	Feeding difficulties in infancy
701	BUB1B	HP:0002664	Neoplasm
701	BUB1B	HP:0000007	Autosomal recessive inheritance
701	BUB1B	HP:0002667	Nephroblastoma
701	BUB1B	HP:0000003	Multicystic kidney dysplasia
701	BUB1B	HP:0000006	Autosomal dominant inheritance
701	BUB1B	HP:0001305	Dandy-Walker malformation
701	BUB1B	HP:0001321	Cerebellar hypoplasia
701	BUB1B	HP:0000175	Cleft palate
701	BUB1B	HP:0012126	Stomach cancer
701	BUB1B	HP:0002797	Osteolysis
701	BUB1B	HP:0001428	Somatic mutation
701	BUB1B	HP:0000107	Renal cyst
701	BUB1B	HP:0002007	Frontal bossing
701	BUB1B	HP:0011800	Midface retrusion
701	BUB1B	HP:0002069	Bilateral tonic-clonic seizure
701	BUB1B	HP:0002123	Generalized myoclonic seizure
701	BUB1B	HP:0002119	Ventriculomegaly
701	BUB1B	HP:0002101	Abnormal lung lobation
701	BUB1B	HP:0002104	Apnea
701	BUB1B	HP:0002187	Intellectual disability, profound
701	BUB1B	HP:0002247	Duodenal atresia
701	BUB1B	HP:0003560	Muscular dystrophy
701	BUB1B	HP:0001000	Abnormality of skin pigmentation
701	BUB1B	HP:0100650	Vaginal neoplasm
701	BUB1B	HP:0200024	Premature chromatid separation
701	BUB1B	HP:0200008	Intestinal polyposis
701	BUB1B	HP:0006872	Cerebral hypoplasia
701	BUB1B	HP:0004209	Clinodactyly of the 5th finger
701	BUB1B	HP:0006849	Hypodysplasia of the corpus callosum
701	BUB1B	HP:0005584	Renal cell carcinoma
701	BUB1B	HP:0000639	Nystagmus
701	BUB1B	HP:0001909	Leukemia
701	BUB1B	HP:0011344	Severe global developmental delay
701	BUB1B	HP:0004322	Short stature
701	BUB1B	HP:0003003	Colon cancer
701	BUB1B	HP:0030674	Antenatal onset
701	BUB1B	HP:0030680	Abnormality of cardiovascular system morphology
701	BUB1B	HP:0003196	Short nose
701	BUB1B	HP:0000929	Abnormal skull morphology
701	BUB1B	HP:0000924	Abnormality of the skeletal system
701	BUB1B	HP:0000879	Short sternum
701	BUB1B	HP:0000821	Hypothyroidism
701	BUB1B	HP:0000286	Epicanthus
701	BUB1B	HP:0000272	Malar flattening
701	BUB1B	HP:0002817	Abnormality of the upper limb
701	BUB1B	HP:0000238	Hydrocephalus
701	BUB1B	HP:0000252	Microcephaly
701	BUB1B	HP:0000248	Brachycephaly
701	BUB1B	HP:0001562	Oligohydramnios
701	BUB1B	HP:0001561	Polyhydramnios
701	BUB1B	HP:0002891	Uterine leiomyosarcoma
701	BUB1B	HP:0002859	Rhabdomyosarcoma
701	BUB1B	HP:0001541	Ascites
701	BUB1B	HP:0000207	Triangular mouth
701	BUB1B	HP:0002863	Myelodysplasia
701	BUB1B	HP:0001518	Small for gestational age
701	BUB1B	HP:0001511	Intrauterine growth retardation
701	BUB1B	HP:0001510	Growth delay
701	BUB1B	HP:0000365	Hearing impairment
701	BUB1B	HP:0000358	Posteriorly rotated ears
701	BUB1B	HP:0000369	Low-set ears
701	BUB1B	HP:0000368	Low-set, posteriorly rotated ears
701	BUB1B	HP:0000340	Sloping forehead
701	BUB1B	HP:0000343	Long philtrum
701	BUB1B	HP:0001682	Subvalvular aortic stenosis
701	BUB1B	HP:0001680	Coarctation of aorta
701	BUB1B	HP:0001679	Abnormal aortic morphology
701	BUB1B	HP:0000348	High forehead
701	BUB1B	HP:0000347	Micrognathia
701	BUB1B	HP:0000316	Hypertelorism
701	BUB1B	HP:0001642	Pulmonic stenosis
701	BUB1B	HP:0001659	Aortic regurgitation
701	BUB1B	HP:0000325	Triangular face
701	BUB1B	HP:0001631	Atrial septal defect
701	BUB1B	HP:0007957	Corneal opacity
701	BUB1B	HP:0005387	Combined immunodeficiency
701	BUB1B	HP:0005280	Depressed nasal bridge
701	BUB1B	HP:0000478	Abnormality of the eye
701	BUB1B	HP:0000494	Downslanted palpebral fissures
701	BUB1B	HP:0000463	Anteverted nares
701	BUB1B	HP:0000457	Depressed nasal ridge
701	BUB1B	HP:0000470	Short neck
701	BUB1B	HP:0000445	Wide nose
701	BUB1B	HP:0006753	Neoplasm of the stomach
701	BUB1B	HP:0006740	Transitional cell carcinoma of the bladder
701	BUB1B	HP:0006743	Embryonal rhabdomyosarcoma
701	BUB1B	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
701	BUB1B	HP:0006721	Acute lymphoblastic leukemia
701	BUB1B	HP:0000518	Cataract
701	BUB1B	HP:0000504	Abnormality of vision
701	BUB1B	HP:0000501	Glaucoma
701	BUB1B	HP:0000582	Upslanted palpebral fissure
701	BUB1B	HP:0000568	Microphthalmia
708	C1QBP	HP:0000007	Autosomal recessive inheritance
708	C1QBP	HP:0000100	Nephrotic syndrome
708	C1QBP	HP:0002151	Increased serum lactate
708	C1QBP	HP:0002240	Hepatomegaly
708	C1QBP	HP:0003581	Adult onset
708	C1QBP	HP:0003546	Exercise intolerance
708	C1QBP	HP:0000646	Amblyopia
708	C1QBP	HP:0001942	Metabolic acidosis
708	C1QBP	HP:0003198	Myopathy
708	C1QBP	HP:0000821	Hypothyroidism
708	C1QBP	HP:0003236	Elevated circulating creatine kinase concentration
708	C1QBP	HP:0001562	Oligohydramnios
708	C1QBP	HP:0012378	Fatigue
708	C1QBP	HP:0002910	Elevated hepatic transaminase
708	C1QBP	HP:0001640	Cardiomegaly
708	C1QBP	HP:0001638	Cardiomyopathy
708	C1QBP	HP:0000407	Sensorineural hearing impairment
708	C1QBP	HP:0001712	Left ventricular hypertrophy
708	C1QBP	HP:0000483	Astigmatism
708	C1QBP	HP:0000508	Ptosis
708	C1QBP	HP:0000590	Progressive external ophthalmoplegia
710	SERPING1	HP:0025349	Limbal edema
710	SERPING1	HP:0012027	Laryngeal edema
710	SERPING1	HP:0007514	Edema of the dorsum of hands
710	SERPING1	HP:0001324	Muscle weakness
710	SERPING1	HP:0000007	Autosomal recessive inheritance
710	SERPING1	HP:0000006	Autosomal dominant inheritance
710	SERPING1	HP:0033748	Hypoesthesia
710	SERPING1	HP:0002615	Hypotension
710	SERPING1	HP:0000172	Abnormal uvula morphology
710	SERPING1	HP:0025434	Reduced hemolytic complement activity
710	SERPING1	HP:0002725	Systemic lupus erythematosus
710	SERPING1	HP:0002018	Nausea
710	SERPING1	HP:0002027	Abdominal pain
710	SERPING1	HP:0040315	Tongue edema
710	SERPING1	HP:0002014	Diarrhea
710	SERPING1	HP:0002015	Dysphagia
710	SERPING1	HP:0002013	Vomiting
710	SERPING1	HP:0100539	Periorbital edema
710	SERPING1	HP:0002098	Respiratory distress
710	SERPING1	HP:0002094	Dyspnea
710	SERPING1	HP:0003477	Peripheral axonal neuropathy
710	SERPING1	HP:0011855	Pharyngeal edema
710	SERPING1	HP:0003401	Paresthesia
710	SERPING1	HP:0100736	Abnormal soft palate morphology
710	SERPING1	HP:0100755	Abnormality of salivation
710	SERPING1	HP:0011971	Dermatographic urticaria
710	SERPING1	HP:0001025	Urticaria
710	SERPING1	HP:0100665	Angioedema
710	SERPING1	HP:0010783	Erythema
710	SERPING1	HP:0001939	Abnormality of metabolism/homeostasis
710	SERPING1	HP:0011463	Childhood onset
710	SERPING1	HP:0011462	Young adult onset
710	SERPING1	HP:0034204	Decreased circulating C1-esterase inhibitor concentration
710	SERPING1	HP:0040078	Axonal degeneration
710	SERPING1	HP:0045042	Decreased circulating complement C4 concentration
710	SERPING1	HP:0000282	Facial edema
710	SERPING1	HP:0012252	Abnormal respiratory system morphology
710	SERPING1	HP:0005225	Intestinal edema
710	SERPING1	HP:0001609	Hoarse voice
710	SERPING1	HP:0002960	Autoimmunity
710	SERPING1	HP:0005348	Inspiratory stridor
710	SERPING1	HP:0005483	Abnormal epiglottis morphology
712	C1QA	HP:0000007	Autosomal recessive inheritance
712	C1QA	HP:0002719	Recurrent infections
712	C1QA	HP:0002725	Systemic lupus erythematosus
712	C1QA	HP:0000793	Membranoproliferative glomerulonephritis
712	C1QA	HP:0002960	Autoimmunity
712	C1QA	HP:0005356	Decreased circulating complement factor I concentration
713	C1QB	HP:0000007	Autosomal recessive inheritance
713	C1QB	HP:0002719	Recurrent infections
713	C1QB	HP:0002725	Systemic lupus erythematosus
713	C1QB	HP:0000793	Membranoproliferative glomerulonephritis
713	C1QB	HP:0002960	Autoimmunity
713	C1QB	HP:0005356	Decreased circulating complement factor I concentration
714	C1QC	HP:0000007	Autosomal recessive inheritance
714	C1QC	HP:0002719	Recurrent infections
714	C1QC	HP:0002725	Systemic lupus erythematosus
714	C1QC	HP:0000793	Membranoproliferative glomerulonephritis
714	C1QC	HP:0002960	Autoimmunity
714	C1QC	HP:0005356	Decreased circulating complement factor I concentration
715	C1R	HP:0001166	Arachnodactyly
715	C1R	HP:0000098	Tall stature
715	C1R	HP:0001373	Joint dislocation
715	C1R	HP:0001388	Joint laxity
715	C1R	HP:0000023	Inguinal hernia
715	C1R	HP:0007517	Palmoplantar cutis laxa
715	C1R	HP:0000006	Autosomal dominant inheritance
715	C1R	HP:0002650	Scoliosis
715	C1R	HP:0006349	Agenesis of permanent teeth
715	C1R	HP:0006323	Premature loss of primary teeth
715	C1R	HP:0006308	Atrophy of alveolar ridges
715	C1R	HP:0410027	Alveolar bone loss around teeth
715	C1R	HP:0002761	Generalized joint laxity
715	C1R	HP:0002719	Recurrent infections
715	C1R	HP:0002036	Hiatus hernia
715	C1R	HP:0034518	Gingival fragility
715	C1R	HP:0034517	Pretibial hyperpigmentation
715	C1R	HP:0001058	Poor wound healing
715	C1R	HP:0001034	Hypermelanotic macule
715	C1R	HP:0001030	Fragile skin
715	C1R	HP:0001015	Prominent superficial veins
715	C1R	HP:0001075	Atrophic scars
715	C1R	HP:0000691	Microdontia
715	C1R	HP:0004322	Short stature
715	C1R	HP:0005692	Joint hyperflexibility
715	C1R	HP:0000704	Periodontitis
715	C1R	HP:0030816	Gingival recession
715	C1R	HP:0000978	Bruising susceptibility
715	C1R	HP:0000977	Soft skin
715	C1R	HP:0000974	Hyperextensible skin
715	C1R	HP:0000963	Thin skin
715	C1R	HP:0002829	Arthralgia
715	C1R	HP:0000212	Gingival overgrowth
715	C1R	HP:0000225	Gingival bleeding
715	C1R	HP:0001537	Umbilical hernia
715	C1R	HP:0031368	Intestinal perforation
715	C1R	HP:0001609	Hoarse voice
715	C1R	HP:0006480	Premature loss of teeth
715	C1R	HP:0000347	Micrognathia
715	C1R	HP:0002960	Autoimmunity
715	C1R	HP:0000592	Blue sclerae
716	C1S	HP:0001373	Joint dislocation
716	C1S	HP:0001382	Joint hypermobility
716	C1S	HP:0000023	Inguinal hernia
716	C1S	HP:0002667	Nephroblastoma
716	C1S	HP:0000006	Autosomal dominant inheritance
716	C1S	HP:0002650	Scoliosis
716	C1S	HP:0012115	Hepatitis
716	C1S	HP:0006349	Agenesis of permanent teeth
716	C1S	HP:0006323	Premature loss of primary teeth
716	C1S	HP:0006308	Atrophy of alveolar ridges
716	C1S	HP:0002725	Systemic lupus erythematosus
716	C1S	HP:0034518	Gingival fragility
716	C1S	HP:0034517	Pretibial hyperpigmentation
716	C1S	HP:0001034	Hypermelanotic macule
716	C1S	HP:0001030	Fragile skin
716	C1S	HP:0001015	Prominent superficial veins
716	C1S	HP:0001075	Atrophic scars
716	C1S	HP:0000691	Microdontia
716	C1S	HP:0004322	Short stature
716	C1S	HP:0003003	Colon cancer
716	C1S	HP:0005692	Joint hyperflexibility
716	C1S	HP:0000704	Periodontitis
716	C1S	HP:0000872	Hashimoto thyroiditis
716	C1S	HP:0030816	Gingival recession
716	C1S	HP:0000978	Bruising susceptibility
716	C1S	HP:0000974	Hyperextensible skin
716	C1S	HP:0000987	Atypical scarring of skin
716	C1S	HP:0002829	Arthralgia
716	C1S	HP:0000212	Gingival overgrowth
716	C1S	HP:0000225	Gingival bleeding
716	C1S	HP:0001537	Umbilical hernia
716	C1S	HP:0000347	Micrognathia
716	C1S	HP:0005339	Abnormality of complement system
717	C2	HP:0000007	Autosomal recessive inheritance
717	C2	HP:0002725	Systemic lupus erythematosus
717	C2	HP:0000979	Purpura
718	C3	HP:0003774	Stage 5 chronic kidney disease
718	C3	HP:0000083	Renal insufficiency
718	C3	HP:0000093	Proteinuria
718	C3	HP:0000007	Autosomal recessive inheritance
718	C3	HP:0000006	Autosomal dominant inheritance
718	C3	HP:0000100	Nephrotic syndrome
718	C3	HP:0002718	Recurrent bacterial infections
718	C3	HP:0002725	Systemic lupus erythematosus
718	C3	HP:0100519	Anuria
718	C3	HP:0003593	Infantile onset
718	C3	HP:0003581	Adult onset
718	C3	HP:0003621	Juvenile onset
718	C3	HP:0005575	Hemolytic-uremic syndrome
718	C3	HP:0001954	Recurrent fever
718	C3	HP:0001937	Microangiopathic hemolytic anemia
718	C3	HP:0001903	Anemia
718	C3	HP:0001919	Acute kidney injury
718	C3	HP:0011463	Childhood onset
718	C3	HP:0000793	Membranoproliferative glomerulonephritis
718	C3	HP:0000790	Hematuria
718	C3	HP:0003138	Increased blood urea nitrogen
718	C3	HP:0000822	Hypertension
718	C3	HP:0003259	Elevated circulating creatinine concentration
718	C3	HP:0006532	Recurrent pneumonia
718	C3	HP:0011110	Recurrent tonsillitis
718	C3	HP:0005421	Decreased circulating complement C3 concentration
718	C3	HP:0001873	Thrombocytopenia
720	C4A	HP:0007256	Abnormal pyramidal sign
720	C4A	HP:0010885	Avascular necrosis
720	C4A	HP:0100820	Glomerulopathy
720	C4A	HP:0001269	Hemiparesis
720	C4A	HP:0001287	Meningitis
720	C4A	HP:0001289	Confusion
720	C4A	HP:0001288	Gait disturbance
720	C4A	HP:0001250	Seizure
720	C4A	HP:0001251	Ataxia
720	C4A	HP:0002516	Increased intracranial pressure
720	C4A	HP:0000083	Renal insufficiency
720	C4A	HP:0000099	Glomerulonephritis
720	C4A	HP:0001369	Arthritis
720	C4A	HP:0001347	Hyperreflexia
720	C4A	HP:0000007	Autosomal recessive inheritance
720	C4A	HP:0002637	Cerebral ischemia
720	C4A	HP:0002633	Vasculitis
720	C4A	HP:0000155	Oral ulcer
720	C4A	HP:0025434	Reduced hemolytic complement activity
720	C4A	HP:0001482	Subcutaneous nodule
720	C4A	HP:0002716	Lymphadenopathy
720	C4A	HP:0002725	Systemic lupus erythematosus
720	C4A	HP:0002024	Malabsorption
720	C4A	HP:0002017	Nausea and vomiting
720	C4A	HP:0002027	Abdominal pain
720	C4A	HP:0003326	Myalgia
720	C4A	HP:0002076	Migraine
720	C4A	HP:0002039	Anorexia
720	C4A	HP:0100584	Endocarditis
720	C4A	HP:0002102	Pleuritis
720	C4A	HP:0002113	Pulmonary infiltrates
720	C4A	HP:0002105	Hemoptysis
720	C4A	HP:0003401	Paresthesia
720	C4A	HP:0002239	Gastrointestinal hemorrhage
720	C4A	HP:0002202	Pleural effusion
720	C4A	HP:0002204	Pulmonary embolism
720	C4A	HP:0100796	Orchitis
720	C4A	HP:0100758	Gangrene
720	C4A	HP:0002383	Infectious encephalitis
720	C4A	HP:0001061	Acne
720	C4A	HP:0002376	Developmental regression
720	C4A	HP:0002354	Memory impairment
720	C4A	HP:0002321	Vertigo
720	C4A	HP:0100653	Optic neuritis
720	C4A	HP:0100654	Retrobulbar optic neuritis
720	C4A	HP:0200034	Papule
720	C4A	HP:0001097	Keratoconjunctivitis sicca
720	C4A	HP:0100614	Myositis
720	C4A	HP:0004936	Venous thrombosis
720	C4A	HP:0006824	Cranial nerve paralysis
720	C4A	HP:0000618	Blindness
720	C4A	HP:0000613	Photophobia
720	C4A	HP:0001945	Fever
720	C4A	HP:0012649	Increased inflammatory response
720	C4A	HP:0000737	Irritability
720	C4A	HP:0000708	Atypical behavior
720	C4A	HP:0004420	Arterial thrombosis
720	C4A	HP:0100326	Immunologic hypersensitivity
720	C4A	HP:0045042	Decreased circulating complement C4 concentration
720	C4A	HP:0000979	Purpura
720	C4A	HP:0000992	Cutaneous photosensitivity
720	C4A	HP:0008066	Abnormal blistering of the skin
720	C4A	HP:0002829	Arthralgia
720	C4A	HP:0012378	Fatigue
720	C4A	HP:0001658	Myocardial infarction
720	C4A	HP:0001659	Aortic regurgitation
720	C4A	HP:0001653	Mitral regurgitation
720	C4A	HP:0001637	Abnormal myocardium morphology
720	C4A	HP:0001733	Pancreatitis
720	C4A	HP:0001701	Pericarditis
720	C4A	HP:0000488	Retinopathy
720	C4A	HP:0011107	Recurrent aphthous stomatitis
720	C4A	HP:0001744	Splenomegaly
720	C4A	HP:0000518	Cataract
720	C4A	HP:0001824	Weight loss
721	C4B	HP:0001287	Meningitis
721	C4B	HP:0002028	Chronic diarrhea
721	C4B	HP:0002099	Asthma
721	C4B	HP:0003593	Infantile onset
721	C4B	HP:0200120	Chronic active hepatitis
721	C4B	HP:0045044	Decreased circulating complement C4b concentration
721	C4B	HP:0006532	Recurrent pneumonia
721	C4B	HP:0000403	Recurrent otitis media
721	C4B	HP:0011108	Recurrent sinusitis
726	CAPN5	HP:0000006	Autosomal dominant inheritance
726	CAPN5	HP:0007658	Large hyperpigmented retinal spots
726	CAPN5	HP:0000618	Blindness
726	CAPN5	HP:0030667	Peripheral retinal neovascularization
726	CAPN5	HP:0007773	Vitreoretinopathy
726	CAPN5	HP:0007778	Posterior retinal neovascularization
726	CAPN5	HP:0007902	Vitreous hemorrhage
726	CAPN5	HP:0000512	Abnormal electroretinogram
726	CAPN5	HP:0000554	Uveitis
726	CAPN5	HP:0000541	Retinal detachment
727	C5	HP:0007569	Generalized seborrheic dermatitis
727	C5	HP:0000007	Autosomal recessive inheritance
727	C5	HP:0025434	Reduced hemolytic complement activity
727	C5	HP:0002041	Intractable diarrhea
727	C5	HP:0033060	Decreased circulating complement C5 concentration
727	C5	HP:0005381	Recurrent meningococcal disease
727	C5	HP:0005430	Recurrent Neisserial infections
729	C6	HP:0000007	Autosomal recessive inheritance
729	C6	HP:0025434	Reduced hemolytic complement activity
729	C6	HP:0033059	Decreased circulating complement C6 concentration
729	C6	HP:0005381	Recurrent meningococcal disease
730	C7	HP:0000007	Autosomal recessive inheritance
730	C7	HP:0033058	Decreased circulating complement C7 concentration
730	C7	HP:0005381	Recurrent meningococcal disease
730	C7	HP:0005430	Recurrent Neisserial infections
731	C8A	HP:0001287	Meningitis
731	C8A	HP:0000007	Autosomal recessive inheritance
731	C8A	HP:0002725	Systemic lupus erythematosus
731	C8A	HP:0004434	Decreased circulating complement C8 concentration
732	C8B	HP:0001287	Meningitis
732	C8B	HP:0000007	Autosomal recessive inheritance
732	C8B	HP:0004434	Decreased circulating complement C8 concentration
732	C8B	HP:0005430	Recurrent Neisserial infections
735	C9	HP:0000006	Autosomal dominant inheritance
735	C9	HP:0003581	Adult onset
735	C9	HP:0000608	Macular degeneration
735	C9	HP:0012308	Decreased circulating complement C9 concentration
738	VPS51	HP:0001290	Generalized hypotonia
738	VPS51	HP:0002580	Volvulus
738	VPS51	HP:0002540	Inability to walk
738	VPS51	HP:0001217	Clubbing
738	VPS51	HP:0025336	Delayed ability to sit
738	VPS51	HP:0000007	Autosomal recessive inheritance
738	VPS51	HP:0001305	Dandy-Walker malformation
738	VPS51	HP:0001320	Cerebellar vermis hypoplasia
738	VPS51	HP:0012110	Hypoplasia of the pons
738	VPS51	HP:0001410	Decreased liver function
738	VPS51	HP:0002019	Constipation
738	VPS51	HP:0002099	Asthma
738	VPS51	HP:0002066	Gait ataxia
738	VPS51	HP:0002079	Hypoplasia of the corpus callosum
738	VPS51	HP:0002133	Status epilepticus
738	VPS51	HP:0002162	Low posterior hairline
738	VPS51	HP:0010535	Sleep apnea
738	VPS51	HP:0100704	Cerebral visual impairment
738	VPS51	HP:0002202	Pleural effusion
738	VPS51	HP:0002205	Recurrent respiratory infections
738	VPS51	HP:0002280	Enlarged cisterna magna
738	VPS51	HP:0011968	Feeding difficulties
738	VPS51	HP:0011344	Severe global developmental delay
738	VPS51	HP:0006956	Lateral ventricle dilatation
738	VPS51	HP:0000954	Single transverse palmar crease
738	VPS51	HP:0000969	Edema
738	VPS51	HP:0000286	Epicanthus
738	VPS51	HP:0001572	Macrodontia
738	VPS51	HP:0000252	Microcephaly
738	VPS51	HP:0000219	Thin upper lip vermilion
738	VPS51	HP:0000218	High palate
738	VPS51	HP:0025517	Hypoplastic hippocampus
738	VPS51	HP:0000215	Thick upper lip vermilion
738	VPS51	HP:0001508	Failure to thrive
738	VPS51	HP:0000396	Overfolded helix
738	VPS51	HP:0000316	Hypertelorism
738	VPS51	HP:0000322	Short philtrum
738	VPS51	HP:0000486	Strabismus
738	VPS51	HP:0000463	Anteverted nares
738	VPS51	HP:0000527	Long eyelashes
745	MYRF	HP:0001270	Motor delay
745	MYRF	HP:0001250	Seizure
745	MYRF	HP:0001249	Intellectual disability
745	MYRF	HP:0002566	Intestinal malrotation
745	MYRF	HP:0410259	Hepatopulmonary fusion
745	MYRF	HP:0000062	Ambiguous genitalia
745	MYRF	HP:0000054	Micropenis
745	MYRF	HP:0000048	Bifid scrotum
745	MYRF	HP:0000028	Cryptorchidism
745	MYRF	HP:0000006	Autosomal dominant inheritance
745	MYRF	HP:0031134	Cor triatrium sinister
745	MYRF	HP:0000151	Aplasia of the uterus
745	MYRF	HP:0031298	Coronary sinus enlargement
745	MYRF	HP:0002780	Bronchomalacia
745	MYRF	HP:0002779	Tracheomalacia
745	MYRF	HP:0000105	Enlarged kidney
745	MYRF	HP:0004691	2-3 toe syndactyly
745	MYRF	HP:0002089	Pulmonary hypoplasia
745	MYRF	HP:0010479	Patent urachus
745	MYRF	HP:0200128	Biventricular hypertrophy
745	MYRF	HP:0010773	Partial anomalous pulmonary venous return
745	MYRF	HP:0003621	Juvenile onset
745	MYRF	HP:0006846	Acute encephalopathy
745	MYRF	HP:0000808	Penoscrotal hypospadias
745	MYRF	HP:0004383	Hypoplastic left heart
745	MYRF	HP:0034198	Second trimester onset
745	MYRF	HP:0003010	Prolonged bleeding time
745	MYRF	HP:0012741	Unilateral cryptorchidism
745	MYRF	HP:0011463	Childhood onset
745	MYRF	HP:0000776	Congenital diaphragmatic hernia
745	MYRF	HP:0030732	Dysplastic tricuspid valve
745	MYRF	HP:0011599	Mesocardia
745	MYRF	HP:0011626	Scimitar anomaly
745	MYRF	HP:0011611	Interrupted aortic arch
745	MYRF	HP:0001698	Pericardial effusion
745	MYRF	HP:0001651	Dextrocardia
745	MYRF	HP:0001649	Tachycardia
745	MYRF	HP:0001643	Patent ductus arteriosus
745	MYRF	HP:0001629	Ventricular septal defect
745	MYRF	HP:0001636	Tetralogy of Fallot
745	MYRF	HP:0001631	Atrial septal defect
745	MYRF	HP:0001747	Accessory spleen
745	MYRF	HP:0000431	Wide nasal bridge
755	CFAP410	HP:0001257	Spasticity
755	CFAP410	HP:0100864	Short femoral neck
755	CFAP410	HP:0007373	Motor neuron atrophy
755	CFAP410	HP:0007354	Amyotrophic lateral sclerosis
755	CFAP410	HP:0002657	Spondylometaphyseal dysplasia
755	CFAP410	HP:0000007	Autosomal recessive inheritance
755	CFAP410	HP:0002650	Scoliosis
755	CFAP410	HP:0008905	Rhizomelia
755	CFAP410	HP:0025425	Laryngospasm
755	CFAP410	HP:0007663	Reduced visual acuity
755	CFAP410	HP:0002795	Abnormal respiratory system physiology
755	CFAP410	HP:0002017	Nausea and vomiting
755	CFAP410	HP:0003324	Generalized muscle weakness
755	CFAP410	HP:0002094	Dyspnea
755	CFAP410	HP:0002091	Restrictive ventilatory defect
755	CFAP410	HP:0003394	Muscle spasm
755	CFAP410	HP:0003375	Narrow greater sciatic notch
755	CFAP410	HP:0003470	Paralysis
755	CFAP410	HP:0003411	Proximal femoral metaphyseal irregularity
755	CFAP410	HP:0002180	Neurodegeneration
755	CFAP410	HP:0003593	Infantile onset
755	CFAP410	HP:0003577	Congenital onset
755	CFAP410	HP:0003521	Disproportionate short-trunk short stature
755	CFAP410	HP:0003623	Neonatal onset
755	CFAP410	HP:0003621	Juvenile onset
755	CFAP410	HP:0000639	Nystagmus
755	CFAP410	HP:0000648	Optic atrophy
755	CFAP410	HP:0000613	Photophobia
755	CFAP410	HP:0001956	Truncal obesity
755	CFAP410	HP:0000603	Central scotoma
755	CFAP410	HP:0000662	Nyctalopia
755	CFAP410	HP:0004322	Short stature
755	CFAP410	HP:0100018	Nuclear cataract
755	CFAP410	HP:0000739	Anxiety
755	CFAP410	HP:0000716	Depression
755	CFAP410	HP:0000712	Emotional lability
755	CFAP410	HP:0000713	Agitation
755	CFAP410	HP:0011463	Childhood onset
755	CFAP410	HP:0000774	Narrow chest
755	CFAP410	HP:0000926	Platyspondyly
755	CFAP410	HP:0000907	Anterior rib cupping
755	CFAP410	HP:0030856	Posterior staphyloma
755	CFAP410	HP:0003202	Skeletal muscle atrophy
755	CFAP410	HP:0007703	Abnormality of retinal pigmentation
755	CFAP410	HP:0007787	Posterior subcapsular cataract
755	CFAP410	HP:0007737	Bone spicule pigmentation of the retina
755	CFAP410	HP:0002812	Coxa vara
755	CFAP410	HP:0012207	Reduced sperm motility
755	CFAP410	HP:0000217	Xerostomia
755	CFAP410	HP:0002878	Respiratory failure
755	CFAP410	HP:0007843	Attenuation of retinal blood vessels
755	CFAP410	HP:0007814	Retinal pigment epithelial mottling
755	CFAP410	HP:0012378	Fatigue
755	CFAP410	HP:0005257	Thoracic hypoplasia
755	CFAP410	HP:0006532	Recurrent pneumonia
755	CFAP410	HP:0030196	Fatigable weakness of respiratory muscles
755	CFAP410	HP:0030195	Fatigable weakness of swallowing muscles
755	CFAP410	HP:0030192	Fatigable weakness of bulbar muscles
755	CFAP410	HP:0001744	Splenomegaly
755	CFAP410	HP:0000510	Rod-cone dystrophy
755	CFAP410	HP:0000505	Visual impairment
755	CFAP410	HP:0000556	Retinal dystrophy
755	CFAP410	HP:0012531	Pain
755	CFAP410	HP:0000551	Color vision defect
755	CFAP410	HP:0000546	Retinal degeneration
755	CFAP410	HP:0000548	Cone/cone-rod dystrophy
760	CA2	HP:0001105	Retinal atrophy
760	CA2	HP:0010864	Intellectual disability, severe
760	CA2	HP:0001293	Cranial nerve compression
760	CA2	HP:0001249	Intellectual disability
760	CA2	HP:0001263	Global developmental delay
760	CA2	HP:0002518	Abnormal periventricular white matter morphology
760	CA2	HP:0002514	Cerebral calcification
760	CA2	HP:0002684	Thickened calvaria
760	CA2	HP:0001357	Plagiocephaly
760	CA2	HP:0001328	Specific learning disability
760	CA2	HP:0000007	Autosomal recessive inheritance
760	CA2	HP:0012181	Entrapment neuropathy
760	CA2	HP:0000179	Thick lower lip vermilion
760	CA2	HP:0000164	Abnormality of the dentition
760	CA2	HP:0000160	Narrow mouth
760	CA2	HP:0006335	Persistence of primary teeth
760	CA2	HP:0000126	Hydronephrosis
760	CA2	HP:0002757	Recurrent fractures
760	CA2	HP:0001433	Hepatosplenomegaly
760	CA2	HP:0002092	Pulmonary arterial hypertension
760	CA2	HP:0002049	Proximal renal tubular acidosis
760	CA2	HP:0008153	Periodic hypokalemic paresis
760	CA2	HP:0002135	Basal ganglia calcification
760	CA2	HP:0002273	Tetraparesis
760	CA2	HP:0002240	Hepatomegaly
760	CA2	HP:0008341	Distal renal tubular acidosis
760	CA2	HP:0005528	Bone marrow hypocellularity
760	CA2	HP:0006824	Cranial nerve paralysis
760	CA2	HP:0000648	Optic atrophy
760	CA2	HP:0001978	Extramedullary hematopoiesis
760	CA2	HP:0001947	Renal tubular acidosis
760	CA2	HP:0001942	Metabolic acidosis
760	CA2	HP:0001903	Anemia
760	CA2	HP:0000692	Tooth malposition
760	CA2	HP:0000689	Dental malocclusion
760	CA2	HP:0001999	Abnormal facial shape
760	CA2	HP:0004322	Short stature
760	CA2	HP:0003034	Diaphyseal sclerosis
760	CA2	HP:0000767	Pectus excavatum
760	CA2	HP:0000787	Nephrolithiasis
760	CA2	HP:0004445	Elliptocytosis
760	CA2	HP:0004437	Cranial hyperostosis
760	CA2	HP:0003148	Elevated serum acid phosphatase
760	CA2	HP:0000867	Secondary hyperparathyroidism
760	CA2	HP:0003236	Elevated circulating creatine kinase concentration
760	CA2	HP:0030812	Enlarged tonsils
760	CA2	HP:0000278	Retrognathia
760	CA2	HP:0000248	Brachycephaly
760	CA2	HP:0000218	High palate
760	CA2	HP:0001562	Oligohydramnios
760	CA2	HP:0002870	Obstructive sleep apnea
760	CA2	HP:0001508	Failure to thrive
760	CA2	HP:0007807	Optic nerve compression
760	CA2	HP:0012379	Abnormal circulating enzyme concentration or activity
760	CA2	HP:0012370	Prominence of the zygomatic bone
760	CA2	HP:0002901	Hypocalcemia
760	CA2	HP:0011002	Osteopetrosis
760	CA2	HP:0000347	Micrognathia
760	CA2	HP:0006641	Prominent floating ribs
760	CA2	HP:0000405	Conductive hearing impairment
760	CA2	HP:0000400	Macrotia
760	CA2	HP:0000479	Abnormal retinal morphology
760	CA2	HP:0005461	Craniofacial disproportion
760	CA2	HP:0000505	Visual impairment
760	CA2	HP:0000592	Blue sclerae
760	CA2	HP:0011220	Prominent forehead
760	CA2	HP:0000572	Visual loss
760	CA2	HP:0001882	Leukopenia
760	CA2	HP:0001873	Thrombocytopenia
760	CA2	HP:0001876	Pancytopenia
762	CA4	HP:0001249	Intellectual disability
762	CA4	HP:0008736	Hypoplasia of penis
762	CA4	HP:0001347	Hyperreflexia
762	CA4	HP:0000035	Abnormal testis morphology
762	CA4	HP:0000135	Hypogonadism
762	CA4	HP:0007675	Progressive night blindness
762	CA4	HP:0005978	Type II diabetes mellitus
762	CA4	HP:0000639	Nystagmus
762	CA4	HP:0000648	Optic atrophy
762	CA4	HP:0000618	Blindness
762	CA4	HP:0000613	Photophobia
762	CA4	HP:0000602	Ophthalmoplegia
762	CA4	HP:0000842	Hyperinsulinemia
762	CA4	HP:0000987	Atypical scarring of skin
762	CA4	HP:0008046	Abnormal retinal vascular morphology
762	CA4	HP:0007703	Abnormality of retinal pigmentation
762	CA4	HP:0001513	Obesity
762	CA4	HP:0000407	Sensorineural hearing impairment
762	CA4	HP:0000405	Conductive hearing impairment
762	CA4	HP:0000463	Anteverted nares
762	CA4	HP:0000431	Wide nasal bridge
762	CA4	HP:0000518	Cataract
762	CA4	HP:0000512	Abnormal electroretinogram
762	CA4	HP:0000505	Visual impairment
762	CA4	HP:0000501	Glaucoma
762	CA4	HP:0000563	Keratoconus
763	CA5A	HP:0500163	Hypoornithinemia
763	CA5A	HP:0001298	Encephalopathy
763	CA5A	HP:0001254	Lethargy
763	CA5A	HP:0001263	Global developmental delay
763	CA5A	HP:0002572	Episodic vomiting
763	CA5A	HP:0500251	Abnormal urine sebacic acid concentration
763	CA5A	HP:0000007	Autosomal recessive inheritance
763	CA5A	HP:0002789	Tachypnea
763	CA5A	HP:0003348	Hyperalaninemia
763	CA5A	HP:0005961	Hypoargininemia
763	CA5A	HP:0033111	3-hydroxyisovaleric aciduria
763	CA5A	HP:0002151	Increased serum lactate
763	CA5A	HP:0033213	Elevated urine suberic acid level
763	CA5A	HP:0003572	Low plasma citrulline
763	CA5A	HP:0008358	Hyperprolinemia
763	CA5A	HP:0003648	Lacticaciduria
763	CA5A	HP:0003623	Neonatal onset
763	CA5A	HP:0033407	Elevated urine acetoacetic acid level
763	CA5A	HP:0001943	Hypoglycemia
763	CA5A	HP:0001942	Metabolic acidosis
763	CA5A	HP:0001950	Respiratory alkalosis
763	CA5A	HP:0001993	Ketoacidosis
763	CA5A	HP:0001987	Hyperammonemia
763	CA5A	HP:0011463	Childhood onset
763	CA5A	HP:0003128	Lactic acidosis
763	CA5A	HP:0003228	Hypernatremia
763	CA5A	HP:0003217	Hyperglutaminemia
763	CA5A	HP:0000952	Jaundice
763	CA5A	HP:0040155	Elevated urinary 3-hydroxybutyric acid
763	CA5A	HP:0002919	Ketonuria
767	CA8	HP:0009878	Cerebellar ataxia associated with quadrupedal gait
767	CA8	HP:0001288	Gait disturbance
767	CA8	HP:0001256	Intellectual disability, mild
767	CA8	HP:0001250	Seizure
767	CA8	HP:0001252	Hypotonia
767	CA8	HP:0001251	Ataxia
767	CA8	HP:0001249	Intellectual disability
767	CA8	HP:0001260	Dysarthria
767	CA8	HP:0001350	Slurred speech
767	CA8	HP:0001347	Hyperreflexia
767	CA8	HP:0000007	Autosomal recessive inheritance
767	CA8	HP:0001337	Tremor
767	CA8	HP:0003577	Congenital onset
767	CA8	HP:0004322	Short stature
767	CA8	HP:0100021	Cerebral palsy
767	CA8	HP:0100022	Abnormality of movement
767	CA8	HP:0003202	Skeletal muscle atrophy
767	CA8	HP:0000486	Strabismus
767	CA8	HP:0000478	Abnormality of the eye
767	CA8	HP:0000518	Cataract
767	CA8	HP:0000504	Abnormality of vision
771	CA12	HP:0000007	Autosomal recessive inheritance
771	CA12	HP:0002153	Hyperkalemia
771	CA12	HP:0003593	Infantile onset
771	CA12	HP:0011968	Feeding difficulties
771	CA12	HP:0004906	Hypernatremic dehydration
771	CA12	HP:0012236	Elevated sweat chloride
771	CA12	HP:0001508	Failure to thrive
771	CA12	HP:0002902	Hyponatremia
773	CACNA1A	HP:0002486	Myotonia
773	CACNA1A	HP:0002483	Bulbar signs
773	CACNA1A	HP:0001152	Saccadic smooth pursuit
773	CACNA1A	HP:0001125	Transient unilateral blurring of vision
773	CACNA1A	HP:0002457	Abnormal head movements
773	CACNA1A	HP:0002442	Dyscalculia
773	CACNA1A	HP:0007270	Atypical absence seizure
773	CACNA1A	HP:0007256	Abnormal pyramidal sign
773	CACNA1A	HP:0007240	Progressive gait ataxia
773	CACNA1A	HP:0007209	Facial paralysis
773	CACNA1A	HP:0002421	Poor head control
773	CACNA1A	HP:0003743	Genetic anticipation
773	CACNA1A	HP:0001298	Encephalopathy
773	CACNA1A	HP:0001290	Generalized hypotonia
773	CACNA1A	HP:0001276	Hypertonia
773	CACNA1A	HP:0001272	Cerebellar atrophy
773	CACNA1A	HP:0001273	Abnormal corpus callosum morphology
773	CACNA1A	HP:0001269	Hemiparesis
773	CACNA1A	HP:0001268	Mental deterioration
773	CACNA1A	HP:0001289	Confusion
773	CACNA1A	HP:0001284	Areflexia
773	CACNA1A	HP:0001250	Seizure
773	CACNA1A	HP:0001252	Hypotonia
773	CACNA1A	HP:0001251	Ataxia
773	CACNA1A	HP:0002579	Gastrointestinal dysmotility
773	CACNA1A	HP:0001249	Intellectual disability
773	CACNA1A	HP:0001265	Hyporeflexia
773	CACNA1A	HP:0001266	Choreoathetosis
773	CACNA1A	HP:0001260	Dysarthria
773	CACNA1A	HP:0001263	Global developmental delay
773	CACNA1A	HP:0001257	Spasticity
773	CACNA1A	HP:0001259	Coma
773	CACNA1A	HP:0008765	Auditory hallucinations
773	CACNA1A	HP:0410263	Brain imaging abnormality
773	CACNA1A	HP:0007359	Focal-onset seizure
773	CACNA1A	HP:0002521	Hypsarrhythmia
773	CACNA1A	HP:0002527	Falls
773	CACNA1A	HP:0003829	Typified by incomplete penetrance
773	CACNA1A	HP:0002509	Limb hypertonia
773	CACNA1A	HP:0002505	Loss of ambulation
773	CACNA1A	HP:0012075	Personality disorder
773	CACNA1A	HP:0012044	Seesaw nystagmus
773	CACNA1A	HP:0001371	Flexion contracture
773	CACNA1A	HP:0001350	Slurred speech
773	CACNA1A	HP:0001347	Hyperreflexia
773	CACNA1A	HP:0032506	Alien limb phenomenon
773	CACNA1A	HP:0031179	Nuchal rigidity
773	CACNA1A	HP:0001332	Dystonia
773	CACNA1A	HP:0001324	Muscle weakness
773	CACNA1A	HP:0001337	Tremor
773	CACNA1A	HP:0000006	Autosomal dominant inheritance
773	CACNA1A	HP:0001336	Myoclonus
773	CACNA1A	HP:0001310	Dysmetria
773	CACNA1A	HP:0001308	Tongue fasciculations
773	CACNA1A	HP:0001315	Reduced tendon reflexes
773	CACNA1A	HP:0012194	Episodic hemiplegia
773	CACNA1A	HP:0007670	Abnormal vestibulo-ocular reflex
773	CACNA1A	HP:0008959	Distal upper limb muscle weakness
773	CACNA1A	HP:0031284	Flushing
773	CACNA1A	HP:0002714	Downturned corners of mouth
773	CACNA1A	HP:0002020	Gastroesophageal reflux
773	CACNA1A	HP:0002019	Constipation
773	CACNA1A	HP:0002017	Nausea and vomiting
773	CACNA1A	HP:0002014	Diarrhea
773	CACNA1A	HP:0002015	Dysphagia
773	CACNA1A	HP:0002013	Vomiting
773	CACNA1A	HP:0002083	Migraine without aura
773	CACNA1A	HP:0002080	Intention tremor
773	CACNA1A	HP:0002098	Respiratory distress
773	CACNA1A	HP:0002069	Bilateral tonic-clonic seizure
773	CACNA1A	HP:0002066	Gait ataxia
773	CACNA1A	HP:0002063	Rigidity
773	CACNA1A	HP:0003392	First dorsal interossei muscle weakness
773	CACNA1A	HP:0002078	Truncal ataxia
773	CACNA1A	HP:0002076	Migraine
773	CACNA1A	HP:0002077	Migraine with aura
773	CACNA1A	HP:0002072	Chorea
773	CACNA1A	HP:0002073	Progressive cerebellar ataxia
773	CACNA1A	HP:0002039	Anorexia
773	CACNA1A	HP:0002059	Cerebral atrophy
773	CACNA1A	HP:0100576	Amaurosis fugax
773	CACNA1A	HP:0003487	Babinski sign
773	CACNA1A	HP:0002123	Generalized myoclonic seizure
773	CACNA1A	HP:0002120	Cerebral cortical atrophy
773	CACNA1A	HP:0002133	Status epilepticus
773	CACNA1A	HP:0002131	Episodic ataxia
773	CACNA1A	HP:0002104	Apnea
773	CACNA1A	HP:0002181	Cerebral edema
773	CACNA1A	HP:0002167	Abnormality of speech or vocalization
773	CACNA1A	HP:0002172	Postural instability
773	CACNA1A	HP:0010544	Vertical nystagmus
773	CACNA1A	HP:0010545	Downbeat nystagmus
773	CACNA1A	HP:0003401	Paresthesia
773	CACNA1A	HP:0002263	Exaggerated cupid's bow
773	CACNA1A	HP:0003593	Infantile onset
773	CACNA1A	HP:0002273	Tetraparesis
773	CACNA1A	HP:0003577	Congenital onset
773	CACNA1A	HP:0003587	Insidious onset
773	CACNA1A	HP:0100710	Impulsivity
773	CACNA1A	HP:0200149	CSF lymphocytic pleiocytosis
773	CACNA1A	HP:0200136	Oral-pharyngeal dysphagia
773	CACNA1A	HP:0200134	Epileptic encephalopathy
773	CACNA1A	HP:0007018	Attention deficit hyperactivity disorder
773	CACNA1A	HP:0032044	Decreased vigilance
773	CACNA1A	HP:0011968	Feeding difficulties
773	CACNA1A	HP:0002384	Focal impaired awareness seizure
773	CACNA1A	HP:0002381	Aphasia
773	CACNA1A	HP:0002367	Visual hallucinations
773	CACNA1A	HP:0002363	Abnormal brainstem morphology
773	CACNA1A	HP:0002359	Frequent falls
773	CACNA1A	HP:0002376	Developmental regression
773	CACNA1A	HP:0002344	Progressive neurologic deterioration
773	CACNA1A	HP:0003676	Progressive
773	CACNA1A	HP:0002355	Difficulty walking
773	CACNA1A	HP:0002353	EEG abnormality
773	CACNA1A	HP:0002321	Vertigo
773	CACNA1A	HP:0002317	Unsteady gait
773	CACNA1A	HP:0002315	Headache
773	CACNA1A	HP:0002329	Drowsiness
773	CACNA1A	HP:0010844	EEG with multifocal slow activity
773	CACNA1A	HP:0010835	Dissociated sensory loss
773	CACNA1A	HP:0010833	Spontaneous pain sensation
773	CACNA1A	HP:0100660	Dyskinesia
773	CACNA1A	HP:0010829	Impaired temperature sensation
773	CACNA1A	HP:0010819	Atonic seizure
773	CACNA1A	HP:0010818	Generalized tonic seizure
773	CACNA1A	HP:0007166	Paroxysmal dyskinesia
773	CACNA1A	HP:0002301	Hemiplegia
773	CACNA1A	HP:0003623	Neonatal onset
773	CACNA1A	HP:0002311	Incoordination
773	CACNA1A	HP:0002305	Athetosis
773	CACNA1A	HP:0003621	Juvenile onset
773	CACNA1A	HP:0030511	Bradyopsia
773	CACNA1A	HP:0006855	Cerebellar vermis atrophy
773	CACNA1A	HP:0000640	Gaze-evoked nystagmus
773	CACNA1A	HP:0000639	Nystagmus
773	CACNA1A	HP:0000651	Diplopia
773	CACNA1A	HP:0000648	Optic atrophy
773	CACNA1A	HP:0000643	Blepharospasm
773	CACNA1A	HP:0001944	Dehydration
773	CACNA1A	HP:0001945	Fever
773	CACNA1A	HP:0000657	Oculomotor apraxia
773	CACNA1A	HP:0000668	Hypodontia
773	CACNA1A	HP:0004322	Short stature
773	CACNA1A	HP:0004305	Involuntary movements
773	CACNA1A	HP:0031931	Ocular flutter
773	CACNA1A	HP:0000752	Hyperactivity
773	CACNA1A	HP:0000763	Sensory neuropathy
773	CACNA1A	HP:0000737	Irritability
773	CACNA1A	HP:0000739	Anxiety
773	CACNA1A	HP:0000750	Delayed speech and language development
773	CACNA1A	HP:0000741	Apathy
773	CACNA1A	HP:0000718	Aggressive behavior
773	CACNA1A	HP:0000717	Autism
773	CACNA1A	HP:0000712	Emotional lability
773	CACNA1A	HP:0000713	Agitation
773	CACNA1A	HP:0000729	Autistic behavior
773	CACNA1A	HP:0000709	Psychosis
773	CACNA1A	HP:0000708	Atypical behavior
773	CACNA1A	HP:0011499	Mydriasis
773	CACNA1A	HP:0011468	Facial tics
773	CACNA1A	HP:0011462	Young adult onset
773	CACNA1A	HP:0011443	Abnormality of coordination
773	CACNA1A	HP:0012758	Neurodevelopmental delay
773	CACNA1A	HP:0030786	Photopsia
773	CACNA1A	HP:0003270	Abdominal distention
773	CACNA1A	HP:0045074	Thin eyebrow
773	CACNA1A	HP:0030842	Choking episodes
773	CACNA1A	HP:0000980	Pallor
773	CACNA1A	HP:0000975	Hyperhidrosis
773	CACNA1A	HP:0011675	Arrhythmia
773	CACNA1A	HP:0000297	Facial hypotonia
773	CACNA1A	HP:0005135	Abnormal T-wave
773	CACNA1A	HP:0007772	Impaired smooth pursuit
773	CACNA1A	HP:0012229	CSF pleocytosis
773	CACNA1A	HP:0032649	Skewfoot
773	CACNA1A	HP:0000252	Microcephaly
773	CACNA1A	HP:0032660	Convulsive status epilepticus
773	CACNA1A	HP:0001558	Decreased fetal movement
773	CACNA1A	HP:0001508	Failure to thrive
773	CACNA1A	HP:0002835	Aspiration
773	CACNA1A	HP:0002922	Increased CSF protein concentration
773	CACNA1A	HP:0000365	Hearing impairment
773	CACNA1A	HP:0000360	Tinnitus
773	CACNA1A	HP:0011024	Abnormality of the gastrointestinal tract
773	CACNA1A	HP:0012332	Abnormal autonomic nervous system physiology
773	CACNA1A	HP:0032792	Tonic seizure
773	CACNA1A	HP:0000348	High forehead
773	CACNA1A	HP:0032794	Myoclonic seizure
773	CACNA1A	HP:0001638	Cardiomyopathy
773	CACNA1A	HP:0011196	EEG with focal sharp waves
773	CACNA1A	HP:0011195	EEG with focal sharp slow waves
773	CACNA1A	HP:0011199	EEG with generalized sharp slow waves
773	CACNA1A	HP:0011172	Complex febrile seizure
773	CACNA1A	HP:0011157	Focal sensory seizure
773	CACNA1A	HP:0011167	Focal tonic seizure
773	CACNA1A	HP:0011153	Focal motor seizure
773	CACNA1A	HP:0007979	Gaze-evoked horizontal nystagmus
773	CACNA1A	HP:0000486	Strabismus
773	CACNA1A	HP:0031546	Cardiac conduction abnormality
773	CACNA1A	HP:0000494	Downslanted palpebral fissures
773	CACNA1A	HP:0012444	Brain atrophy
773	CACNA1A	HP:0012447	Abnormal myelination
773	CACNA1A	HP:0000473	Torticollis
773	CACNA1A	HP:0001751	Abnormal vestibular function
773	CACNA1A	HP:0012508	Metamorphopsia
773	CACNA1A	HP:0000508	Ptosis
773	CACNA1A	HP:0000504	Abnormality of vision
773	CACNA1A	HP:0000575	Scotoma
773	CACNA1A	HP:0000577	Exotropia
773	CACNA1A	HP:0012547	Abnormal involuntary eye movements
773	CACNA1A	HP:0000565	Esotropia
773	CACNA1A	HP:0000546	Retinal degeneration
774	CACNA1B	HP:0002487	Hyperkinetic movements
774	CACNA1B	HP:0002421	Poor head control
774	CACNA1B	HP:0003763	Bruxism
774	CACNA1B	HP:0001298	Encephalopathy
774	CACNA1B	HP:0001290	Generalized hypotonia
774	CACNA1B	HP:0001273	Abnormal corpus callosum morphology
774	CACNA1B	HP:0001268	Mental deterioration
774	CACNA1B	HP:0001250	Seizure
774	CACNA1B	HP:0001252	Hypotonia
774	CACNA1B	HP:0001251	Ataxia
774	CACNA1B	HP:0001249	Intellectual disability
774	CACNA1B	HP:0001265	Hyporeflexia
774	CACNA1B	HP:0001266	Choreoathetosis
774	CACNA1B	HP:0001263	Global developmental delay
774	CACNA1B	HP:0001257	Spasticity
774	CACNA1B	HP:0002540	Inability to walk
774	CACNA1B	HP:0002521	Hypsarrhythmia
774	CACNA1B	HP:0002509	Limb hypertonia
774	CACNA1B	HP:0001332	Dystonia
774	CACNA1B	HP:0001344	Absent speech
774	CACNA1B	HP:0000007	Autosomal recessive inheritance
774	CACNA1B	HP:0001337	Tremor
774	CACNA1B	HP:0001336	Myoclonus
774	CACNA1B	HP:0001315	Reduced tendon reflexes
774	CACNA1B	HP:0012171	Stereotypical hand wringing
774	CACNA1B	HP:0002020	Gastroesophageal reflux
774	CACNA1B	HP:0002069	Bilateral tonic-clonic seizure
774	CACNA1B	HP:0002063	Rigidity
774	CACNA1B	HP:0002059	Cerebral atrophy
774	CACNA1B	HP:0002133	Status epilepticus
774	CACNA1B	HP:0003593	Infantile onset
774	CACNA1B	HP:0100704	Cerebral visual impairment
774	CACNA1B	HP:0100710	Impulsivity
774	CACNA1B	HP:0002205	Recurrent respiratory infections
774	CACNA1B	HP:0200134	Epileptic encephalopathy
774	CACNA1B	HP:0007018	Attention deficit hyperactivity disorder
774	CACNA1B	HP:0011968	Feeding difficulties
774	CACNA1B	HP:0002376	Developmental regression
774	CACNA1B	HP:0002355	Difficulty walking
774	CACNA1B	HP:0002317	Unsteady gait
774	CACNA1B	HP:0010844	EEG with multifocal slow activity
774	CACNA1B	HP:0100660	Dyskinesia
774	CACNA1B	HP:0000639	Nystagmus
774	CACNA1B	HP:0000648	Optic atrophy
774	CACNA1B	HP:0000668	Hypodontia
774	CACNA1B	HP:0004322	Short stature
774	CACNA1B	HP:0004305	Involuntary movements
774	CACNA1B	HP:0000750	Delayed speech and language development
774	CACNA1B	HP:0000717	Autism
774	CACNA1B	HP:0000708	Atypical behavior
774	CACNA1B	HP:0011463	Childhood onset
774	CACNA1B	HP:0011443	Abnormality of coordination
774	CACNA1B	HP:0000252	Microcephaly
774	CACNA1B	HP:0001558	Decreased fetal movement
774	CACNA1B	HP:0001508	Failure to thrive
774	CACNA1B	HP:0011097	Epileptic spasm
774	CACNA1B	HP:0032792	Tonic seizure
774	CACNA1B	HP:0000348	High forehead
774	CACNA1B	HP:0032794	Myoclonic seizure
774	CACNA1B	HP:0000405	Conductive hearing impairment
774	CACNA1B	HP:0000486	Strabismus
774	CACNA1B	HP:0000494	Downslanted palpebral fissures
774	CACNA1B	HP:0000463	Anteverted nares
774	CACNA1B	HP:0012444	Brain atrophy
774	CACNA1B	HP:0012447	Abnormal myelination
774	CACNA1B	HP:0005484	Secondary microcephaly
774	CACNA1B	HP:0000508	Ptosis
774	CACNA1B	HP:0000504	Abnormality of vision
774	CACNA1B	HP:0012547	Abnormal involuntary eye movements
774	CACNA1B	HP:0001883	Talipes
774	CACNA1B	HP:0000546	Retinal degeneration
775	CACNA1C	HP:0001159	Syndactyly
775	CACNA1C	HP:0001197	Abnormality of prenatal development or birth
775	CACNA1C	HP:0001290	Generalized hypotonia
775	CACNA1C	HP:0001270	Motor delay
775	CACNA1C	HP:0001279	Syncope
775	CACNA1C	HP:0001250	Seizure
775	CACNA1C	HP:0001252	Hypotonia
775	CACNA1C	HP:0001249	Intellectual disability
775	CACNA1C	HP:0001263	Global developmental delay
775	CACNA1C	HP:0007359	Focal-onset seizure
775	CACNA1C	HP:0001371	Flexion contracture
775	CACNA1C	HP:0008897	Postnatal growth retardation
775	CACNA1C	HP:0000006	Autosomal dominant inheritance
775	CACNA1C	HP:0000160	Narrow mouth
775	CACNA1C	HP:0008936	Axial hypotonia
775	CACNA1C	HP:0500018	Abnormal cardiac exercise stress test
775	CACNA1C	HP:0002719	Recurrent infections
775	CACNA1C	HP:0002714	Downturned corners of mouth
775	CACNA1C	HP:0002721	Immunodeficiency
775	CACNA1C	HP:0002025	Anal stenosis
775	CACNA1C	HP:0002020	Gastroesophageal reflux
775	CACNA1C	HP:0002019	Constipation
775	CACNA1C	HP:0002015	Dysphagia
775	CACNA1C	HP:0002007	Frontal bossing
775	CACNA1C	HP:0002080	Intention tremor
775	CACNA1C	HP:0002092	Pulmonary arterial hypertension
775	CACNA1C	HP:0002090	Pneumonia
775	CACNA1C	HP:0002061	Lower limb spasticity
775	CACNA1C	HP:0011715	Trifascicular block
775	CACNA1C	HP:0011712	Right bundle branch block
775	CACNA1C	HP:0011704	Sick sinus syndrome
775	CACNA1C	HP:0011705	First degree atrioventricular block
775	CACNA1C	HP:0004755	Supraventricular tachycardia
775	CACNA1C	HP:0004751	Paroxysmal ventricular tachycardia
775	CACNA1C	HP:0011939	3-4 finger cutaneous syndactyly
775	CACNA1C	HP:0002194	Delayed gross motor development
775	CACNA1C	HP:0002172	Postural instability
775	CACNA1C	HP:0010536	Central sleep apnea
775	CACNA1C	HP:0003593	Infantile onset
775	CACNA1C	HP:0003581	Adult onset
775	CACNA1C	HP:0002209	Sparse scalp hair
775	CACNA1C	HP:0007018	Attention deficit hyperactivity disorder
775	CACNA1C	HP:0003623	Neonatal onset
775	CACNA1C	HP:0003621	Juvenile onset
775	CACNA1C	HP:0001943	Hypoglycemia
775	CACNA1C	HP:0000609	Optic nerve hypoplasia
775	CACNA1C	HP:0000691	Microdontia
775	CACNA1C	HP:0004308	Ventricular arrhythmia
775	CACNA1C	HP:0012725	Cutaneous syndactyly
775	CACNA1C	HP:0000750	Delayed speech and language development
775	CACNA1C	HP:0000717	Autism
775	CACNA1C	HP:0005709	2-3 toe cutaneous syndactyly
775	CACNA1C	HP:0003186	Inverted nipples
775	CACNA1C	HP:0000821	Hypothyroidism
775	CACNA1C	HP:0010307	Stridor
775	CACNA1C	HP:0008081	Pes valgus
775	CACNA1C	HP:0012272	J wave
775	CACNA1C	HP:0012251	ST segment elevation
775	CACNA1C	HP:0005135	Abnormal T-wave
775	CACNA1C	HP:0005110	Atrial fibrillation
775	CACNA1C	HP:0012232	Shortened QT interval
775	CACNA1C	HP:0000219	Thin upper lip vermilion
775	CACNA1C	HP:0000233	Thin vermilion border
775	CACNA1C	HP:0002870	Obstructive sleep apnea
775	CACNA1C	HP:0012389	Appendicular hypotonia
775	CACNA1C	HP:0012385	Camptodactyly
775	CACNA1C	HP:0012387	Bronchitis
775	CACNA1C	HP:0001601	Laryngomalacia
775	CACNA1C	HP:0005184	Prolonged QTc interval
775	CACNA1C	HP:0002900	Hypokalemia
775	CACNA1C	HP:0002901	Hypocalcemia
775	CACNA1C	HP:0000365	Hearing impairment
775	CACNA1C	HP:0001695	Cardiac arrest
775	CACNA1C	HP:0001688	Sinus bradycardia
775	CACNA1C	HP:0000369	Low-set ears
775	CACNA1C	HP:0001699	Sudden death
775	CACNA1C	HP:0012332	Abnormal autonomic nervous system physiology
775	CACNA1C	HP:0001664	Torsade de pointes
775	CACNA1C	HP:0032792	Tonic seizure
775	CACNA1C	HP:0000347	Micrognathia
775	CACNA1C	HP:0032794	Myoclonic seizure
775	CACNA1C	HP:0001649	Tachycardia
775	CACNA1C	HP:0001643	Patent ductus arteriosus
775	CACNA1C	HP:0000311	Round face
775	CACNA1C	HP:0001645	Sudden cardiac death
775	CACNA1C	HP:0001663	Ventricular fibrillation
775	CACNA1C	HP:0001662	Bradycardia
775	CACNA1C	HP:0001657	Prolonged QT interval
775	CACNA1C	HP:0001655	Patent foramen ovale
775	CACNA1C	HP:0001629	Ventricular septal defect
775	CACNA1C	HP:0001640	Cardiomegaly
775	CACNA1C	HP:0001636	Tetralogy of Fallot
775	CACNA1C	HP:0031628	Aborted sudden cardiac death
775	CACNA1C	HP:0005280	Depressed nasal bridge
775	CACNA1C	HP:0001763	Pes planus
775	CACNA1C	HP:0001762	Talipes equinovarus
775	CACNA1C	HP:0000520	Proptosis
775	CACNA1C	HP:0000586	Shallow orbits
776	CACNA1D	HP:0010864	Intellectual disability, severe
776	CACNA1D	HP:0001279	Syncope
776	CACNA1D	HP:0001250	Seizure
776	CACNA1D	HP:0001249	Intellectual disability
776	CACNA1D	HP:0001263	Global developmental delay
776	CACNA1D	HP:0001258	Spastic paraplegia
776	CACNA1D	HP:0001257	Spasticity
776	CACNA1D	HP:0002510	Spastic tetraplegia
776	CACNA1D	HP:0000007	Autosomal recessive inheritance
776	CACNA1D	HP:0000006	Autosomal dominant inheritance
776	CACNA1D	HP:0003351	Decreased circulating renin level
776	CACNA1D	HP:0002018	Nausea
776	CACNA1D	HP:0002092	Pulmonary arterial hypertension
776	CACNA1D	HP:0002069	Bilateral tonic-clonic seizure
776	CACNA1D	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism
776	CACNA1D	HP:0011736	Primary hyperaldosteronism
776	CACNA1D	HP:0011706	Second degree atrioventricular block
776	CACNA1D	HP:0002170	Intracranial hemorrhage
776	CACNA1D	HP:0008221	Adrenal hyperplasia
776	CACNA1D	HP:0003577	Congenital onset
776	CACNA1D	HP:0100704	Cerebral visual impairment
776	CACNA1D	HP:0200114	Metabolic alkalosis
776	CACNA1D	HP:0200128	Biventricular hypertrophy
776	CACNA1D	HP:0002384	Focal impaired awareness seizure
776	CACNA1D	HP:0002315	Headache
776	CACNA1D	HP:0025074	Abnormal QRS complex
776	CACNA1D	HP:0002305	Athetosis
776	CACNA1D	HP:0031862	Increased heart rate variability
776	CACNA1D	HP:0001959	Polydipsia
776	CACNA1D	HP:0011410	Caesarian section
776	CACNA1D	HP:0100021	Cerebral palsy
776	CACNA1D	HP:0000787	Nephrolithiasis
776	CACNA1D	HP:0000859	Hyperaldosteronism
776	CACNA1D	HP:0000822	Hypertension
776	CACNA1D	HP:0040084	Abnormal circulating renin
776	CACNA1D	HP:0100285	EMG: impaired neuromuscular transmission
776	CACNA1D	HP:0002900	Hypokalemia
776	CACNA1D	HP:0000365	Hearing impairment
776	CACNA1D	HP:0000360	Tinnitus
776	CACNA1D	HP:0032794	Myoclonic seizure
776	CACNA1D	HP:0001662	Bradycardia
776	CACNA1D	HP:0001655	Patent foramen ovale
776	CACNA1D	HP:0001629	Ventricular septal defect
776	CACNA1D	HP:0011166	Focal myoclonic seizure
776	CACNA1D	HP:0001712	Left ventricular hypertrophy
776	CACNA1D	HP:0001714	Ventricular hypertrophy
776	CACNA1D	HP:0000421	Epistaxis
777	CACNA1E	HP:0002487	Hyperkinetic movements
777	CACNA1E	HP:0007371	Corpus callosum atrophy
777	CACNA1E	HP:0002540	Inability to walk
777	CACNA1E	HP:0002521	Hypsarrhythmia
777	CACNA1E	HP:0002510	Spastic tetraplegia
777	CACNA1E	HP:0001347	Hyperreflexia
777	CACNA1E	HP:0001332	Dystonia
777	CACNA1E	HP:0001344	Absent speech
777	CACNA1E	HP:0000006	Autosomal dominant inheritance
777	CACNA1E	HP:0001336	Myoclonus
777	CACNA1E	HP:0008936	Axial hypotonia
777	CACNA1E	HP:0002120	Cerebral cortical atrophy
777	CACNA1E	HP:0002133	Status epilepticus
777	CACNA1E	HP:0100704	Cerebral visual impairment
777	CACNA1E	HP:0200134	Epileptic encephalopathy
777	CACNA1E	HP:0002376	Developmental regression
777	CACNA1E	HP:0002353	EEG abnormality
777	CACNA1E	HP:0000639	Nystagmus
777	CACNA1E	HP:0000256	Macrocephaly
777	CACNA1E	HP:0002803	Congenital contracture
777	CACNA1E	HP:0002804	Arthrogryposis multiplex congenita
778	CACNA1F	HP:0001141	Severely reduced visual acuity
778	CACNA1F	HP:0007663	Reduced visual acuity
778	CACNA1F	HP:0007642	Congenital stationary night blindness
778	CACNA1F	HP:0001419	X-linked recessive inheritance
778	CACNA1F	HP:0001417	X-linked inheritance
778	CACNA1F	HP:0008323	Abnormal light- and dark-adapted electroretinogram
778	CACNA1F	HP:0001022	Albinism
778	CACNA1F	HP:0030513	Difficulty adjusting from light to dark
778	CACNA1F	HP:0005592	Giant melanosomes in melanocytes
778	CACNA1F	HP:0000639	Nystagmus
778	CACNA1F	HP:0000613	Photophobia
778	CACNA1F	HP:0001939	Abnormality of metabolism/homeostasis
778	CACNA1F	HP:0000603	Central scotoma
778	CACNA1F	HP:0030469	Abnormal dark-adapted electroretinogram
778	CACNA1F	HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram
778	CACNA1F	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
778	CACNA1F	HP:0000662	Nyctalopia
778	CACNA1F	HP:0030639	Congenital stationary night blindness with abnormal fundus
778	CACNA1F	HP:0030638	Congenital stationary night blindness with normal fundus
778	CACNA1F	HP:0030825	Absent foveal reflex
778	CACNA1F	HP:0008002	Abnormality of macular pigmentation
778	CACNA1F	HP:0007703	Abnormality of retinal pigmentation
778	CACNA1F	HP:0007750	Hypoplasia of the fovea
778	CACNA1F	HP:0007894	Hypopigmentation of the fundus
778	CACNA1F	HP:0030329	Retinal thinning
778	CACNA1F	HP:0007984	Electronegative electroretinogram
778	CACNA1F	HP:0000483	Astigmatism
778	CACNA1F	HP:0000486	Strabismus
778	CACNA1F	HP:0031705	Compensatory head posture
778	CACNA1F	HP:0000512	Abnormal electroretinogram
778	CACNA1F	HP:0000505	Visual impairment
778	CACNA1F	HP:0000577	Exotropia
778	CACNA1F	HP:0000541	Retinal detachment
778	CACNA1F	HP:0000540	Hypermetropia
778	CACNA1F	HP:0000551	Color vision defect
778	CACNA1F	HP:0000548	Cone/cone-rod dystrophy
778	CACNA1F	HP:0000543	Optic disc pallor
778	CACNA1F	HP:0000545	Myopia
779	CACNA1S	HP:0002486	Myotonia
779	CACNA1S	HP:0003768	Periodic paralysis
779	CACNA1S	HP:0002445	Tetraplegia
779	CACNA1S	HP:0003752	Episodic flaccid weakness
779	CACNA1S	HP:0003745	Sporadic
779	CACNA1S	HP:0001252	Hypotonia
779	CACNA1S	HP:0001265	Hyporeflexia
779	CACNA1S	HP:0007340	Lower limb muscle weakness
779	CACNA1S	HP:0003829	Typified by incomplete penetrance
779	CACNA1S	HP:0000016	Urinary retention
779	CACNA1S	HP:0001324	Muscle weakness
779	CACNA1S	HP:0001337	Tremor
779	CACNA1S	HP:0000006	Autosomal dominant inheritance
779	CACNA1S	HP:0008978	Necrotizing myopathy
779	CACNA1S	HP:0008942	Acute rhabdomyolysis
779	CACNA1S	HP:0002789	Tachypnea
779	CACNA1S	HP:0002019	Constipation
779	CACNA1S	HP:0003394	Muscle spasm
779	CACNA1S	HP:0002047	Malignant hyperthermia
779	CACNA1S	HP:0011706	Second degree atrioventricular block
779	CACNA1S	HP:0008180	Mildly elevated creatine kinase
779	CACNA1S	HP:0008153	Periodic hypokalemic paresis
779	CACNA1S	HP:0011784	Thyrotoxicosis with diffuse goiter
779	CACNA1S	HP:0011785	Thyrotoxicosis with toxic multinodular goiter
779	CACNA1S	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule
779	CACNA1S	HP:0003470	Paralysis
779	CACNA1S	HP:0002153	Hyperkalemia
779	CACNA1S	HP:0003457	EMG abnormality
779	CACNA1S	HP:0004756	Ventricular tachycardia
779	CACNA1S	HP:0004755	Supraventricular tachycardia
779	CACNA1S	HP:0008256	Adrenocortical adenoma
779	CACNA1S	HP:0008285	Transient hypophosphatemia
779	CACNA1S	HP:0003593	Infantile onset
779	CACNA1S	HP:0003552	Muscle stiffness
779	CACNA1S	HP:0002203	Respiratory paralysis
779	CACNA1S	HP:0011998	Postprandial hyperglycemia
779	CACNA1S	HP:0008331	Elevated creatine kinase after exercise
779	CACNA1S	HP:0011964	Intermittent painful muscle spasms
779	CACNA1S	HP:0003694	Late-onset proximal muscle weakness
779	CACNA1S	HP:0100647	Graves disease
779	CACNA1S	HP:0001962	Palpitations
779	CACNA1S	HP:0001945	Fever
779	CACNA1S	HP:0001942	Metabolic acidosis
779	CACNA1S	HP:0001919	Acute kidney injury
779	CACNA1S	HP:0009045	Exercise-induced rhabdomyolysis
779	CACNA1S	HP:0009020	Exercise-induced muscle fatigue
779	CACNA1S	HP:0004303	Abnormal muscle fiber morphology
779	CACNA1S	HP:0003011	Abnormality of the musculature
779	CACNA1S	HP:0012726	Episodic hypokalemia
779	CACNA1S	HP:0003198	Myopathy
779	CACNA1S	HP:0003134	Abnormality of peripheral nerve conduction
779	CACNA1S	HP:0000853	Goiter
779	CACNA1S	HP:0000836	Hyperthyroidism
779	CACNA1S	HP:0003201	Rhabdomyolysis
779	CACNA1S	HP:0003256	Abnormality of the coagulation cascade
779	CACNA1S	HP:0000975	Hyperhidrosis
779	CACNA1S	HP:0012240	Increased intramyocellular lipid droplets
779	CACNA1S	HP:0031320	Cardiomyocyte mitochondrial proliferation
779	CACNA1S	HP:0001513	Obesity
779	CACNA1S	HP:0012364	Decreased urinary potassium
779	CACNA1S	HP:0006554	Acute hepatic failure
779	CACNA1S	HP:0030196	Fatigable weakness of respiratory muscles
779	CACNA1S	HP:0002917	Hypomagnesemia
779	CACNA1S	HP:0002913	Myoglobinuria
779	CACNA1S	HP:0002905	Hyperphosphatemia
779	CACNA1S	HP:0002900	Hypokalemia
779	CACNA1S	HP:0005165	Shortened PR interval
779	CACNA1S	HP:0001649	Tachycardia
779	CACNA1S	HP:0001663	Ventricular fibrillation
779	CACNA1S	HP:0001657	Prolonged QT interval
779	CACNA1S	HP:0006682	Premature ventricular contraction
779	CACNA1S	HP:0006670	Impaired myocardial contractility
779	CACNA1S	HP:0001722	High-output congestive heart failure
779	CACNA1S	HP:3000005	Abnormality of masseter muscle
779	CACNA1S	HP:0012416	Hypercapnia
779	CACNA1S	HP:0001824	Weight loss
779	CACNA1S	HP:0000597	Ophthalmoparesis
781	CACNA2D1	HP:0002421	Poor head control
781	CACNA2D1	HP:0003763	Bruxism
781	CACNA2D1	HP:0001298	Encephalopathy
781	CACNA2D1	HP:0001290	Generalized hypotonia
781	CACNA2D1	HP:0001273	Abnormal corpus callosum morphology
781	CACNA2D1	HP:0001268	Mental deterioration
781	CACNA2D1	HP:0001279	Syncope
781	CACNA2D1	HP:0001250	Seizure
781	CACNA2D1	HP:0001252	Hypotonia
781	CACNA2D1	HP:0001251	Ataxia
781	CACNA2D1	HP:0001249	Intellectual disability
781	CACNA2D1	HP:0001265	Hyporeflexia
781	CACNA2D1	HP:0001263	Global developmental delay
781	CACNA2D1	HP:0001257	Spasticity
781	CACNA2D1	HP:0002521	Hypsarrhythmia
781	CACNA2D1	HP:0002509	Limb hypertonia
781	CACNA2D1	HP:0001344	Absent speech
781	CACNA2D1	HP:0000007	Autosomal recessive inheritance
781	CACNA2D1	HP:0001337	Tremor
781	CACNA2D1	HP:0001336	Myoclonus
781	CACNA2D1	HP:0001315	Reduced tendon reflexes
781	CACNA2D1	HP:0008936	Axial hypotonia
781	CACNA2D1	HP:0002020	Gastroesophageal reflux
781	CACNA2D1	HP:0002063	Rigidity
781	CACNA2D1	HP:0002079	Hypoplasia of the corpus callosum
781	CACNA2D1	HP:0002072	Chorea
781	CACNA2D1	HP:0002059	Cerebral atrophy
781	CACNA2D1	HP:0011715	Trifascicular block
781	CACNA2D1	HP:0011712	Right bundle branch block
781	CACNA2D1	HP:0011704	Sick sinus syndrome
781	CACNA2D1	HP:0011705	First degree atrioventricular block
781	CACNA2D1	HP:0002121	Generalized non-motor (absence) seizure
781	CACNA2D1	HP:0002133	Status epilepticus
781	CACNA2D1	HP:0004755	Supraventricular tachycardia
781	CACNA2D1	HP:0004751	Paroxysmal ventricular tachycardia
781	CACNA2D1	HP:0002187	Intellectual disability, profound
781	CACNA2D1	HP:0003593	Infantile onset
781	CACNA2D1	HP:0100704	Cerebral visual impairment
781	CACNA2D1	HP:0100710	Impulsivity
781	CACNA2D1	HP:0007021	Pain insensitivity
781	CACNA2D1	HP:0007018	Attention deficit hyperactivity disorder
781	CACNA2D1	HP:0011968	Feeding difficulties
781	CACNA2D1	HP:0002376	Developmental regression
781	CACNA2D1	HP:0002355	Difficulty walking
781	CACNA2D1	HP:0002317	Unsteady gait
781	CACNA2D1	HP:0010844	EEG with multifocal slow activity
781	CACNA2D1	HP:0100660	Dyskinesia
781	CACNA2D1	HP:0010804	Tented upper lip vermilion
781	CACNA2D1	HP:0200055	Small hand
781	CACNA2D1	HP:0002310	Orofacial dyskinesia
781	CACNA2D1	HP:0000639	Nystagmus
781	CACNA2D1	HP:0001962	Palpitations
781	CACNA2D1	HP:0000648	Optic atrophy
781	CACNA2D1	HP:0011327	Posterior plagiocephaly
781	CACNA2D1	HP:0000668	Hypodontia
781	CACNA2D1	HP:0004322	Short stature
781	CACNA2D1	HP:0004308	Ventricular arrhythmia
781	CACNA2D1	HP:0004305	Involuntary movements
781	CACNA2D1	HP:0012736	Profound global developmental delay
781	CACNA2D1	HP:0000750	Delayed speech and language development
781	CACNA2D1	HP:0000717	Autism
781	CACNA2D1	HP:0000708	Atypical behavior
781	CACNA2D1	HP:0011443	Abnormality of coordination
781	CACNA2D1	HP:0012251	ST segment elevation
781	CACNA2D1	HP:0005110	Atrial fibrillation
781	CACNA2D1	HP:0012232	Shortened QT interval
781	CACNA2D1	HP:0000252	Microcephaly
781	CACNA2D1	HP:0000218	High palate
781	CACNA2D1	HP:0001558	Decreased fetal movement
781	CACNA2D1	HP:0002870	Obstructive sleep apnea
781	CACNA2D1	HP:0001508	Failure to thrive
781	CACNA2D1	HP:0001695	Cardiac arrest
781	CACNA2D1	HP:0000369	Low-set ears
781	CACNA2D1	HP:0000341	Narrow forehead
781	CACNA2D1	HP:0000348	High forehead
781	CACNA2D1	HP:0001678	Atrioventricular block
781	CACNA2D1	HP:0032799	Focal impaired awareness hemiclonic seizure
781	CACNA2D1	HP:0001649	Tachycardia
781	CACNA2D1	HP:0001645	Sudden cardiac death
781	CACNA2D1	HP:0001663	Ventricular fibrillation
781	CACNA2D1	HP:0001662	Bradycardia
781	CACNA2D1	HP:0031491	Continuous spike and waves during slow sleep
781	CACNA2D1	HP:0000400	Macrotia
781	CACNA2D1	HP:0000494	Downslanted palpebral fissures
781	CACNA2D1	HP:0012444	Brain atrophy
781	CACNA2D1	HP:0012447	Abnormal myelination
781	CACNA2D1	HP:0000508	Ptosis
781	CACNA2D1	HP:0000504	Abnormality of vision
781	CACNA2D1	HP:0012547	Abnormal involuntary eye movements
781	CACNA2D1	HP:0000546	Retinal degeneration
783	CACNB2	HP:0001279	Syncope
783	CACNB2	HP:0000006	Autosomal dominant inheritance
783	CACNB2	HP:0011715	Trifascicular block
783	CACNB2	HP:0011712	Right bundle branch block
783	CACNB2	HP:0011704	Sick sinus syndrome
783	CACNB2	HP:0011705	First degree atrioventricular block
783	CACNB2	HP:0004755	Supraventricular tachycardia
783	CACNB2	HP:0004751	Paroxysmal ventricular tachycardia
783	CACNB2	HP:0004308	Ventricular arrhythmia
783	CACNB2	HP:0012251	ST segment elevation
783	CACNB2	HP:0005110	Atrial fibrillation
783	CACNB2	HP:0012232	Shortened QT interval
783	CACNB2	HP:0001695	Cardiac arrest
783	CACNB2	HP:0001649	Tachycardia
783	CACNB2	HP:0001663	Ventricular fibrillation
785	CACNB4	HP:0007270	Atypical absence seizure
785	CACNB4	HP:0010850	EEG with spike-wave complexes
785	CACNB4	HP:0001251	Ataxia
785	CACNB4	HP:0001249	Intellectual disability
785	CACNB4	HP:0001260	Dysarthria
785	CACNB4	HP:0003829	Typified by incomplete penetrance
785	CACNB4	HP:0012000	EEG with generalized spikes
785	CACNB4	HP:0000006	Autosomal dominant inheritance
785	CACNB4	HP:0001336	Myoclonus
785	CACNB4	HP:0000153	Abnormality of the mouth
785	CACNB4	HP:0002069	Bilateral tonic-clonic seizure
785	CACNB4	HP:0002078	Truncal ataxia
785	CACNB4	HP:0002121	Generalized non-motor (absence) seizure
785	CACNB4	HP:0002133	Status epilepticus
785	CACNB4	HP:0002131	Episodic ataxia
785	CACNB4	HP:0002197	Generalized-onset seizure
785	CACNB4	HP:0002172	Postural instability
785	CACNB4	HP:0010532	Paroxysmal vertigo
785	CACNB4	HP:0007000	Morning myoclonic jerks
785	CACNB4	HP:0002392	EEG with polyspike wave complexes
785	CACNB4	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
785	CACNB4	HP:0002321	Vertigo
785	CACNB4	HP:0007207	Photosensitive tonic-clonic seizure
785	CACNB4	HP:0010818	Generalized tonic seizure
785	CACNB4	HP:0003621	Juvenile onset
785	CACNB4	HP:0007193	Bilateral tonic-clonic seizure on awakening
785	CACNB4	HP:0000640	Gaze-evoked nystagmus
785	CACNB4	HP:0000639	Nystagmus
785	CACNB4	HP:0000718	Aggressive behavior
785	CACNB4	HP:0011463	Childhood onset
785	CACNB4	HP:0011462	Young adult onset
785	CACNB4	HP:0011147	Typical absence seizure
785	CACNB4	HP:0000496	Abnormality of eye movement
785	CACNB4	HP:0025710	Late young adult onset
785	CACNB4	HP:0025709	Intermediate young adult onset
788	SLC25A20	HP:0001298	Encephalopathy
788	SLC25A20	HP:0001290	Generalized hypotonia
788	SLC25A20	HP:0001254	Lethargy
788	SLC25A20	HP:0001250	Seizure
788	SLC25A20	HP:0001252	Hypotonia
788	SLC25A20	HP:0001263	Global developmental delay
788	SLC25A20	HP:0001259	Coma
788	SLC25A20	HP:0001397	Hepatic steatosis
788	SLC25A20	HP:0001399	Hepatic failure
788	SLC25A20	HP:0001324	Muscle weakness
788	SLC25A20	HP:0000007	Autosomal recessive inheritance
788	SLC25A20	HP:0002615	Hypotension
788	SLC25A20	HP:0002093	Respiratory insufficiency
788	SLC25A20	HP:0002045	Hypothermia
788	SLC25A20	HP:0100520	Oliguria
788	SLC25A20	HP:0004756	Ventricular tachycardia
788	SLC25A20	HP:0002240	Hepatomegaly
788	SLC25A20	HP:0008331	Elevated creatine kinase after exercise
788	SLC25A20	HP:0100602	Preeclampsia
788	SLC25A20	HP:0000639	Nystagmus
788	SLC25A20	HP:0001943	Hypoglycemia
788	SLC25A20	HP:0001987	Hyperammonemia
788	SLC25A20	HP:0001985	Hypoketotic hypoglycemia
788	SLC25A20	HP:0001998	Neonatal hypoglycemia
788	SLC25A20	HP:0003011	Abnormality of the musculature
788	SLC25A20	HP:0000737	Irritability
788	SLC25A20	HP:0003162	Fasting hypoglycemia
788	SLC25A20	HP:0003236	Elevated circulating creatine kinase concentration
788	SLC25A20	HP:0003234	Decreased plasma carnitine
788	SLC25A20	HP:0003215	Dicarboxylic aciduria
788	SLC25A20	HP:0003201	Rhabdomyolysis
788	SLC25A20	HP:0045045	Elevated circulating acylcarnitine concentration
788	SLC25A20	HP:0000961	Cyanosis
788	SLC25A20	HP:0011675	Arrhythmia
788	SLC25A20	HP:0000252	Microcephaly
788	SLC25A20	HP:0002882	Sudden episodic apnea
788	SLC25A20	HP:0006543	Cardiorespiratory arrest
788	SLC25A20	HP:0002910	Elevated hepatic transaminase
788	SLC25A20	HP:0001695	Cardiac arrest
788	SLC25A20	HP:0001678	Atrioventricular block
788	SLC25A20	HP:0001662	Bradycardia
788	SLC25A20	HP:0001638	Cardiomyopathy
788	SLC25A20	HP:0006682	Premature ventricular contraction
788	SLC25A20	HP:0001714	Ventricular hypertrophy
790	CAD	HP:0002465	Poor speech
790	CAD	HP:0001290	Generalized hypotonia
790	CAD	HP:0001250	Seizure
790	CAD	HP:0001252	Hypotonia
790	CAD	HP:0001263	Global developmental delay
790	CAD	HP:0000007	Autosomal recessive inheritance
790	CAD	HP:0002136	Broad-based gait
790	CAD	HP:0002133	Status epilepticus
790	CAD	HP:0003593	Infantile onset
790	CAD	HP:0200134	Epileptic encephalopathy
790	CAD	HP:0004823	Anisopoikilocytosis
790	CAD	HP:0002376	Developmental regression
790	CAD	HP:0003676	Progressive
790	CAD	HP:0001981	Schistocytosis
790	CAD	HP:0001947	Renal tubular acidosis
790	CAD	HP:0001927	Acanthocytosis
790	CAD	HP:0001903	Anemia
790	CAD	HP:0001987	Hyperammonemia
790	CAD	HP:0012345	Abnormal glycosylation
790	CAD	HP:0012444	Brain atrophy
799	CALCR	HP:0000006	Autosomal dominant inheritance
799	CALCR	HP:0000939	Osteoporosis
801	CALM1	HP:0001197	Abnormality of prenatal development or birth
801	CALM1	HP:0001279	Syncope
801	CALM1	HP:0001250	Seizure
801	CALM1	HP:0000006	Autosomal dominant inheritance
801	CALM1	HP:0500018	Abnormal cardiac exercise stress test
801	CALM1	HP:0004756	Ventricular tachycardia
801	CALM1	HP:0003593	Infantile onset
801	CALM1	HP:0002321	Vertigo
801	CALM1	HP:0003621	Juvenile onset
801	CALM1	HP:0004308	Ventricular arrhythmia
801	CALM1	HP:0011463	Childhood onset
801	CALM1	HP:0034305	2:1 atrioventricular block
801	CALM1	HP:0012266	T-wave alternans
801	CALM1	HP:0005135	Abnormal T-wave
801	CALM1	HP:0005184	Prolonged QTc interval
801	CALM1	HP:0002900	Hypokalemia
801	CALM1	HP:0000365	Hearing impairment
801	CALM1	HP:0001695	Cardiac arrest
801	CALM1	HP:0001688	Sinus bradycardia
801	CALM1	HP:0001699	Sudden death
801	CALM1	HP:0012332	Abnormal autonomic nervous system physiology
801	CALM1	HP:0001664	Torsade de pointes
801	CALM1	HP:0001645	Sudden cardiac death
801	CALM1	HP:0001663	Ventricular fibrillation
801	CALM1	HP:0001657	Prolonged QT interval
801	CALM1	HP:0006682	Premature ventricular contraction
805	CALM2	HP:0001197	Abnormality of prenatal development or birth
805	CALM2	HP:0001279	Syncope
805	CALM2	HP:0001250	Seizure
805	CALM2	HP:0000006	Autosomal dominant inheritance
805	CALM2	HP:0500018	Abnormal cardiac exercise stress test
805	CALM2	HP:0004756	Ventricular tachycardia
805	CALM2	HP:0002321	Vertigo
805	CALM2	HP:0003623	Neonatal onset
805	CALM2	HP:0003621	Juvenile onset
805	CALM2	HP:0034041	Ventricular ectopy
805	CALM2	HP:0004308	Ventricular arrhythmia
805	CALM2	HP:0030682	Left ventricular noncompaction
805	CALM2	HP:0011463	Childhood onset
805	CALM2	HP:0011461	Fetal onset
805	CALM2	HP:0034306	Ventricular bigeminy
805	CALM2	HP:0034305	2:1 atrioventricular block
805	CALM2	HP:0005135	Abnormal T-wave
805	CALM2	HP:0005184	Prolonged QTc interval
805	CALM2	HP:0002900	Hypokalemia
805	CALM2	HP:0000365	Hearing impairment
805	CALM2	HP:0001695	Cardiac arrest
805	CALM2	HP:0001688	Sinus bradycardia
805	CALM2	HP:0012332	Abnormal autonomic nervous system physiology
805	CALM2	HP:0001664	Torsade de pointes
805	CALM2	HP:0001645	Sudden cardiac death
805	CALM2	HP:0001663	Ventricular fibrillation
805	CALM2	HP:0001662	Bradycardia
805	CALM2	HP:0031677	Polymorphic ventricular tachycardia
808	CALM3	HP:0001197	Abnormality of prenatal development or birth
808	CALM3	HP:0001279	Syncope
808	CALM3	HP:0001250	Seizure
808	CALM3	HP:0000006	Autosomal dominant inheritance
808	CALM3	HP:0500018	Abnormal cardiac exercise stress test
808	CALM3	HP:0011706	Second degree atrioventricular block
808	CALM3	HP:0004756	Ventricular tachycardia
808	CALM3	HP:0003577	Congenital onset
808	CALM3	HP:0002321	Vertigo
808	CALM3	HP:0004308	Ventricular arrhythmia
808	CALM3	HP:0011648	Patent ductus arteriosus after birth at term
808	CALM3	HP:0011682	Perimembranous ventricular septal defect
808	CALM3	HP:0012266	T-wave alternans
808	CALM3	HP:0005135	Abnormal T-wave
808	CALM3	HP:0005184	Prolonged QTc interval
808	CALM3	HP:0002900	Hypokalemia
808	CALM3	HP:0000365	Hearing impairment
808	CALM3	HP:0001688	Sinus bradycardia
808	CALM3	HP:0012332	Abnormal autonomic nervous system physiology
808	CALM3	HP:0001664	Torsade de pointes
808	CALM3	HP:0001645	Sudden cardiac death
808	CALM3	HP:0001662	Bradycardia
811	CALR	HP:0025142	Constitutional symptom
811	CALR	HP:0002488	Acute leukemia
811	CALR	HP:0002586	Peritonitis
811	CALR	HP:0031020	Bone marrow hypercellularity
811	CALR	HP:0001394	Cirrhosis
811	CALR	HP:0000006	Autosomal dominant inheritance
811	CALR	HP:0012156	Hemophagocytosis
811	CALR	HP:0012143	Abnormal megakaryocyte morphology
811	CALR	HP:0025435	Increased circulating lactate dehydrogenase concentration
811	CALR	HP:0001428	Somatic mutation
811	CALR	HP:0001433	Hepatosplenomegaly
811	CALR	HP:0001409	Portal hypertension
811	CALR	HP:0002716	Lymphadenopathy
811	CALR	HP:0002024	Malabsorption
811	CALR	HP:0002027	Abdominal pain
811	CALR	HP:0002040	Esophageal varix
811	CALR	HP:0002039	Anorexia
811	CALR	HP:0003388	Easy fatigability
811	CALR	HP:0100576	Amaurosis fugax
811	CALR	HP:0008148	Impaired epinephrine-induced platelet aggregation
811	CALR	HP:0011875	Abnormal platelet morphology
811	CALR	HP:0003401	Paresthesia
811	CALR	HP:0002240	Hepatomegaly
811	CALR	HP:0002239	Gastrointestinal hemorrhage
811	CALR	HP:0004866	Impaired ADP-induced platelet aggregation
811	CALR	HP:0100749	Chest pain
811	CALR	HP:0011974	Myelofibrosis
811	CALR	HP:0008320	Impaired collagen-induced platelet aggregation
811	CALR	HP:0001028	Hemangioma
811	CALR	HP:0002326	Transient ischemic attack
811	CALR	HP:0100659	Abnormal cerebral vascular morphology
811	CALR	HP:0001082	Cholecystitis
811	CALR	HP:0004936	Venous thrombosis
811	CALR	HP:0005513	Increased megakaryocyte count
811	CALR	HP:0005547	Myeloproliferative disorder
811	CALR	HP:0005561	Abnormality of bone marrow cell morphology
811	CALR	HP:0001977	Abnormal thrombosis
811	CALR	HP:0001978	Extramedullary hematopoiesis
811	CALR	HP:0001974	Leukocytosis
811	CALR	HP:0001945	Fever
811	CALR	HP:0001903	Anemia
811	CALR	HP:0004326	Cachexia
811	CALR	HP:0004377	Hematological neoplasm
811	CALR	HP:0003010	Prolonged bleeding time
811	CALR	HP:0004447	Poikilocytosis
811	CALR	HP:0004420	Arterial thrombosis
811	CALR	HP:0000980	Pallor
811	CALR	HP:0000979	Purpura
811	CALR	HP:0000952	Jaundice
811	CALR	HP:0000967	Petechiae
811	CALR	HP:0030057	Autoimmune antibody positivity
811	CALR	HP:0001541	Ascites
811	CALR	HP:0002863	Myelodysplasia
811	CALR	HP:0031364	Ecchymosis
811	CALR	HP:0012378	Fatigue
811	CALR	HP:0005244	Gastrointestinal infarctions
811	CALR	HP:0005214	Intestinal obstruction
811	CALR	HP:0006554	Acute hepatic failure
811	CALR	HP:0002910	Elevated hepatic transaminase
811	CALR	HP:0001658	Myocardial infarction
811	CALR	HP:0030157	Flank pain
811	CALR	HP:0011134	Low-grade fever
811	CALR	HP:0001744	Splenomegaly
811	CALR	HP:0001824	Weight loss
811	CALR	HP:0001892	Abnormal bleeding
811	CALR	HP:0001894	Thrombocytosis
811	CALR	HP:0001872	Abnormality of thrombocytes
811	CALR	HP:0001871	Abnormality of blood and blood-forming tissues
811	CALR	HP:0001873	Thrombocytopenia
811	CALR	HP:0001876	Pancytopenia
815	CAMK2A	HP:0010864	Intellectual disability, severe
815	CAMK2A	HP:0008551	Microtia
815	CAMK2A	HP:0100814	Blue nevus
815	CAMK2A	HP:0001252	Hypotonia
815	CAMK2A	HP:0002579	Gastrointestinal dysmotility
815	CAMK2A	HP:0001249	Intellectual disability
815	CAMK2A	HP:0001263	Global developmental delay
815	CAMK2A	HP:0001257	Spasticity
815	CAMK2A	HP:0002566	Intestinal malrotation
815	CAMK2A	HP:0002540	Inability to walk
815	CAMK2A	HP:0000054	Micropenis
815	CAMK2A	HP:0001382	Joint hypermobility
815	CAMK2A	HP:0000028	Cryptorchidism
815	CAMK2A	HP:0001344	Absent speech
815	CAMK2A	HP:0000007	Autosomal recessive inheritance
815	CAMK2A	HP:0000006	Autosomal dominant inheritance
815	CAMK2A	HP:0000154	Wide mouth
815	CAMK2A	HP:0000126	Hydronephrosis
815	CAMK2A	HP:0002069	Bilateral tonic-clonic seizure
815	CAMK2A	HP:0002121	Generalized non-motor (absence) seizure
815	CAMK2A	HP:0002194	Delayed gross motor development
815	CAMK2A	HP:0003593	Infantile onset
815	CAMK2A	HP:0002236	Frontal upsweep of hair
815	CAMK2A	HP:0002247	Duodenal atresia
815	CAMK2A	HP:0007074	Thick corpus callosum
815	CAMK2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
815	CAMK2A	HP:0002353	EEG abnormality
815	CAMK2A	HP:0002317	Unsteady gait
815	CAMK2A	HP:0000601	Hypotelorism
815	CAMK2A	HP:0009062	Infantile axial hypotonia
815	CAMK2A	HP:0011327	Posterior plagiocephaly
815	CAMK2A	HP:0006979	Sleep-wake cycle disturbance
815	CAMK2A	HP:0004305	Involuntary movements
815	CAMK2A	HP:0031936	Delayed ability to walk
815	CAMK2A	HP:0000737	Irritability
815	CAMK2A	HP:0000750	Delayed speech and language development
815	CAMK2A	HP:0003097	Short femur
815	CAMK2A	HP:0030890	Hyperintensity of cerebral white matter on MRI
815	CAMK2A	HP:0000286	Epicanthus
815	CAMK2A	HP:0000256	Macrocephaly
815	CAMK2A	HP:0000252	Microcephaly
815	CAMK2A	HP:0000248	Brachycephaly
815	CAMK2A	HP:0001548	Overgrowth
815	CAMK2A	HP:0002857	Genu valgum
815	CAMK2A	HP:0001510	Growth delay
815	CAMK2A	HP:0032794	Myoclonic seizure
815	CAMK2A	HP:0001629	Ventricular septal defect
815	CAMK2A	HP:0011182	Interictal epileptiform activity
815	CAMK2A	HP:0000486	Strabismus
815	CAMK2A	HP:0000494	Downslanted palpebral fissures
815	CAMK2A	HP:0000505	Visual impairment
816	CAMK2B	HP:0002487	Hyperkinetic movements
816	CAMK2B	HP:0025116	Fetal distress
816	CAMK2B	HP:0002421	Poor head control
816	CAMK2B	HP:0003763	Bruxism
816	CAMK2B	HP:0001272	Cerebellar atrophy
816	CAMK2B	HP:0001250	Seizure
816	CAMK2B	HP:0001252	Hypotonia
816	CAMK2B	HP:0001251	Ataxia
816	CAMK2B	HP:0002579	Gastrointestinal dysmotility
816	CAMK2B	HP:0001249	Intellectual disability
816	CAMK2B	HP:0001263	Global developmental delay
816	CAMK2B	HP:0002540	Inability to walk
816	CAMK2B	HP:0000016	Urinary retention
816	CAMK2B	HP:0001344	Absent speech
816	CAMK2B	HP:0000006	Autosomal dominant inheritance
816	CAMK2B	HP:0500093	Food allergy
816	CAMK2B	HP:0008936	Axial hypotonia
816	CAMK2B	HP:0002020	Gastroesophageal reflux
816	CAMK2B	HP:0011800	Midface retrusion
816	CAMK2B	HP:0002069	Bilateral tonic-clonic seizure
816	CAMK2B	HP:0002061	Lower limb spasticity
816	CAMK2B	HP:0002104	Apnea
816	CAMK2B	HP:0003593	Infantile onset
816	CAMK2B	HP:0003577	Congenital onset
816	CAMK2B	HP:0011968	Feeding difficulties
816	CAMK2B	HP:0002384	Focal impaired awareness seizure
816	CAMK2B	HP:0002360	Sleep disturbance
816	CAMK2B	HP:0002376	Developmental regression
816	CAMK2B	HP:0100660	Dyskinesia
816	CAMK2B	HP:0010819	Atonic seizure
816	CAMK2B	HP:0000639	Nystagmus
816	CAMK2B	HP:0000680	Delayed eruption of primary teeth
816	CAMK2B	HP:0000678	Dental crowding
816	CAMK2B	HP:0000687	Widely spaced teeth
816	CAMK2B	HP:0004322	Short stature
816	CAMK2B	HP:0004396	Poor appetite
816	CAMK2B	HP:0000737	Irritability
816	CAMK2B	HP:0000750	Delayed speech and language development
816	CAMK2B	HP:0000718	Aggressive behavior
816	CAMK2B	HP:0000729	Autistic behavior
816	CAMK2B	HP:0011445	Athetoid cerebral palsy
816	CAMK2B	HP:0000958	Dry skin
816	CAMK2B	HP:0000970	Anhidrosis
816	CAMK2B	HP:0000964	Eczema
816	CAMK2B	HP:0008070	Sparse hair
816	CAMK2B	HP:0000252	Microcephaly
816	CAMK2B	HP:0002883	Hyperventilation
816	CAMK2B	HP:0001518	Small for gestational age
816	CAMK2B	HP:0001510	Growth delay
816	CAMK2B	HP:0001605	Vocal cord paralysis
816	CAMK2B	HP:0000341	Narrow forehead
816	CAMK2B	HP:0000340	Sloping forehead
816	CAMK2B	HP:0000331	Short chin
816	CAMK2B	HP:0032988	Persistent head lag
816	CAMK2B	HP:0000483	Astigmatism
816	CAMK2B	HP:0000486	Strabismus
816	CAMK2B	HP:0000490	Deeply set eye
816	CAMK2B	HP:0012450	Chronic constipation
816	CAMK2B	HP:0000505	Visual impairment
816	CAMK2B	HP:0001816	Thin nail
816	CAMK2B	HP:0011220	Prominent forehead
816	CAMK2B	HP:0000565	Esotropia
816	CAMK2B	HP:0001875	Neutropenia
818	CAMK2G	HP:0001156	Brachydactyly
818	CAMK2G	HP:0002465	Poor speech
818	CAMK2G	HP:0010864	Intellectual disability, severe
818	CAMK2G	HP:0001290	Generalized hypotonia
818	CAMK2G	HP:0001250	Seizure
818	CAMK2G	HP:0001263	Global developmental delay
818	CAMK2G	HP:0002553	Highly arched eyebrow
818	CAMK2G	HP:0000006	Autosomal dominant inheritance
818	CAMK2G	HP:0003593	Infantile onset
818	CAMK2G	HP:0003502	Mild short stature
818	CAMK2G	HP:0004279	Short palm
818	CAMK2G	HP:0000637	Long palpebral fissure
818	CAMK2G	HP:0004322	Short stature
818	CAMK2G	HP:0000750	Delayed speech and language development
818	CAMK2G	HP:0000742	Self-mutilation
818	CAMK2G	HP:0004425	Flat forehead
818	CAMK2G	HP:0000960	Sacral dimple
818	CAMK2G	HP:0000297	Facial hypotonia
818	CAMK2G	HP:0000256	Macrocephaly
818	CAMK2G	HP:0012368	Flat face
818	CAMK2G	HP:0000369	Low-set ears
818	CAMK2G	HP:0000341	Narrow forehead
818	CAMK2G	HP:0000343	Long philtrum
818	CAMK2G	HP:0000348	High forehead
818	CAMK2G	HP:0000486	Strabismus
818	CAMK2G	HP:0001773	Short foot
818	CAMK2G	HP:0000411	Protruding ear
818	CAMK2G	HP:0001808	Fragile nails
818	CAMK2G	HP:0000545	Myopia
823	CAPN1	HP:0001251	Ataxia
823	CAPN1	HP:0001260	Dysarthria
823	CAPN1	HP:0001258	Spastic paraplegia
823	CAPN1	HP:0007350	Hyperreflexia in upper limbs
823	CAPN1	HP:0007340	Lower limb muscle weakness
823	CAPN1	HP:0000020	Urinary incontinence
823	CAPN1	HP:0000007	Autosomal recessive inheritance
823	CAPN1	HP:0000009	Functional abnormality of the bladder
823	CAPN1	HP:0001310	Dysmetria
823	CAPN1	HP:0002650	Scoliosis
823	CAPN1	HP:0002066	Gait ataxia
823	CAPN1	HP:0002061	Lower limb spasticity
823	CAPN1	HP:0003390	Sensory axonal neuropathy
823	CAPN1	HP:0002070	Limb ataxia
823	CAPN1	HP:0003487	Babinski sign
823	CAPN1	HP:0002395	Lower limb hyperreflexia
823	CAPN1	HP:0002355	Difficulty walking
823	CAPN1	HP:0009830	Peripheral neuropathy
823	CAPN1	HP:0000639	Nystagmus
823	CAPN1	HP:0011448	Ankle clonus
823	CAPN1	HP:0003202	Skeletal muscle atrophy
823	CAPN1	HP:0008081	Pes valgus
823	CAPN1	HP:0002936	Distal sensory impairment
823	CAPN1	HP:0000496	Abnormality of eye movement
823	CAPN1	HP:0001761	Pes cavus
825	CAPN3	HP:0003701	Proximal muscle weakness
825	CAPN3	HP:0001288	Gait disturbance
825	CAPN3	HP:0001239	Wrist flexion contracture
825	CAPN3	HP:0007340	Lower limb muscle weakness
825	CAPN3	HP:0012037	Pectoralis amyotrophy
825	CAPN3	HP:0001371	Flexion contracture
825	CAPN3	HP:0000007	Autosomal recessive inheritance
825	CAPN3	HP:0000006	Autosomal dominant inheritance
825	CAPN3	HP:0008981	Calf muscle hypertrophy
825	CAPN3	HP:0008946	Pelvic girdle amyotrophy
825	CAPN3	HP:0003326	Myalgia
825	CAPN3	HP:0003307	Hyperlordosis
825	CAPN3	HP:0003306	Spinal rigidity
825	CAPN3	HP:0003324	Generalized muscle weakness
825	CAPN3	HP:0003418	Back pain
825	CAPN3	HP:0003596	Middle age onset
825	CAPN3	HP:0003584	Late onset
825	CAPN3	HP:0003555	Muscle fiber splitting
825	CAPN3	HP:0003551	Difficulty climbing stairs
825	CAPN3	HP:0003560	Muscular dystrophy
825	CAPN3	HP:0003557	Increased variability in muscle fiber diameter
825	CAPN3	HP:0032019	Muscle eosinophilia
825	CAPN3	HP:0010628	Facial palsy
825	CAPN3	HP:0003691	Scapular winging
825	CAPN3	HP:0002355	Difficulty walking
825	CAPN3	HP:0003687	Centrally nucleated skeletal muscle fibers
825	CAPN3	HP:0100614	Myositis
825	CAPN3	HP:0007126	Proximal amyotrophy
825	CAPN3	HP:0002312	Clumsiness
825	CAPN3	HP:0003621	Juvenile onset
825	CAPN3	HP:0009060	Scapular muscle atrophy
825	CAPN3	HP:0009023	Abdominal wall muscle weakness
825	CAPN3	HP:0003089	Hamstring contractures
825	CAPN3	HP:0011463	Childhood onset
825	CAPN3	HP:0011462	Young adult onset
825	CAPN3	HP:0003198	Myopathy
825	CAPN3	HP:0003236	Elevated circulating creatine kinase concentration
825	CAPN3	HP:0005879	Congenital finger flexion contractures
825	CAPN3	HP:0006466	Ankle flexion contracture
825	CAPN3	HP:0030051	Tip-toe gait
825	CAPN3	HP:0002987	Elbow flexion contracture
825	CAPN3	HP:0012548	Fatty replacement of skeletal muscle
825	CAPN3	HP:0001880	Eosinophilia
831	CAST	HP:0100825	Cheilitis
831	CAST	HP:0007421	Telangiectases of the cheeks
831	CAST	HP:0007530	Punctate palmoplantar hyperkeratosis
831	CAST	HP:0007502	Follicular hyperkeratosis
831	CAST	HP:0000007	Autosomal recessive inheritance
831	CAST	HP:0032541	Knuckle pad
831	CAST	HP:0002745	Oral leukoplakia
831	CAST	HP:0003593	Infantile onset
831	CAST	HP:0100792	Acantholysis
831	CAST	HP:0001030	Fragile skin
831	CAST	HP:0025092	Epidermal acanthosis
831	CAST	HP:0000989	Pruritus
831	CAST	HP:0000958	Dry skin
831	CAST	HP:0000962	Hyperkeratosis
831	CAST	HP:0008066	Abnormal blistering of the skin
831	CAST	HP:0040189	Scaling skin
831	CAST	HP:0030318	Angular cheilitis
831	CAST	HP:0001820	Leukonychia
831	CAST	HP:0001806	Onycholysis
833	CARS1	HP:0008619	Bilateral sensorineural hearing impairment
833	CARS1	HP:0001197	Abnormality of prenatal development or birth
833	CARS1	HP:0410219	Hypoplasia of mandible relative to maxilla
833	CARS1	HP:0007266	Cerebral dysmyelination
833	CARS1	HP:0007256	Abnormal pyramidal sign
833	CARS1	HP:0010862	Delayed fine motor development
833	CARS1	HP:0001290	Generalized hypotonia
833	CARS1	HP:0001276	Hypertonia
833	CARS1	HP:0001272	Cerebellar atrophy
833	CARS1	HP:0001256	Intellectual disability, mild
833	CARS1	HP:0001250	Seizure
833	CARS1	HP:0001252	Hypotonia
833	CARS1	HP:0001265	Hyporeflexia
833	CARS1	HP:0001260	Dysarthria
833	CARS1	HP:0001263	Global developmental delay
833	CARS1	HP:0001257	Spasticity
833	CARS1	HP:0002562	Low-set nipples
833	CARS1	HP:0007381	Congenital exfoliative erythroderma
833	CARS1	HP:0001217	Clubbing
833	CARS1	HP:0012043	Pendular nystagmus
833	CARS1	HP:0001371	Flexion contracture
833	CARS1	HP:0001373	Joint dislocation
833	CARS1	HP:0000041	Chordee
833	CARS1	HP:0000047	Hypospadias
833	CARS1	HP:0001348	Brisk reflexes
833	CARS1	HP:0001363	Craniosynostosis
833	CARS1	HP:0000028	Cryptorchidism
833	CARS1	HP:0008872	Feeding difficulties in infancy
833	CARS1	HP:0007495	Prematurely aged appearance
833	CARS1	HP:0007485	Absence of subcutaneous fat
833	CARS1	HP:0001332	Dystonia
833	CARS1	HP:0001338	Partial agenesis of the corpus callosum
833	CARS1	HP:0000007	Autosomal recessive inheritance
833	CARS1	HP:0002616	Aortic root aneurysm
833	CARS1	HP:0000176	Submucous cleft hard palate
833	CARS1	HP:0025428	Bronchospasm
833	CARS1	HP:0007633	Bilateral microphthalmos
833	CARS1	HP:0002705	High, narrow palate
833	CARS1	HP:0006297	Enamel hypoplasia
833	CARS1	HP:0007587	Numerous pigmented freckles
833	CARS1	HP:0000133	Gonadal dysgenesis
833	CARS1	HP:0002750	Delayed skeletal maturation
833	CARS1	HP:0002719	Recurrent infections
833	CARS1	HP:0004684	Talipes valgus
833	CARS1	HP:0005978	Type II diabetes mellitus
833	CARS1	HP:0002080	Intention tremor
833	CARS1	HP:0002066	Gait ataxia
833	CARS1	HP:0002079	Hypoplasia of the corpus callosum
833	CARS1	HP:0002075	Dysdiadochokinesis
833	CARS1	HP:0002059	Cerebral atrophy
833	CARS1	HP:0002120	Cerebral cortical atrophy
833	CARS1	HP:0002119	Ventriculomegaly
833	CARS1	HP:0002136	Broad-based gait
833	CARS1	HP:0002133	Status epilepticus
833	CARS1	HP:0002188	Delayed CNS myelination
833	CARS1	HP:0002197	Generalized-onset seizure
833	CARS1	HP:0002194	Delayed gross motor development
833	CARS1	HP:0010551	Paraplegia/paraparesis
833	CARS1	HP:0002213	Fine hair
833	CARS1	HP:0002209	Sparse scalp hair
833	CARS1	HP:0002299	Brittle hair
833	CARS1	HP:0002293	Alopecia of scalp
833	CARS1	HP:0007034	Generalized hyperreflexia
833	CARS1	HP:0007018	Attention deficit hyperactivity disorder
833	CARS1	HP:0008391	Dystrophic fingernails
833	CARS1	HP:0008386	Aplasia/Hypoplasia of the nails
833	CARS1	HP:0002360	Sleep disturbance
833	CARS1	HP:0002370	Poor coordination
833	CARS1	HP:0009830	Peripheral neuropathy
833	CARS1	HP:0001097	Keratoconjunctivitis sicca
833	CARS1	HP:0000639	Nystagmus
833	CARS1	HP:0000613	Photophobia
833	CARS1	HP:0000608	Macular degeneration
833	CARS1	HP:0000601	Hypotelorism
833	CARS1	HP:0001903	Anemia
833	CARS1	HP:0009055	Generalized limb muscle atrophy
833	CARS1	HP:0000656	Ectropion
833	CARS1	HP:0000670	Carious teeth
833	CARS1	HP:0004322	Short stature
833	CARS1	HP:0006970	Periventricular leukomalacia
833	CARS1	HP:0003079	Defective DNA repair after ultraviolet radiation damage
833	CARS1	HP:0000737	Irritability
833	CARS1	HP:0000750	Delayed speech and language development
833	CARS1	HP:0000716	Depression
833	CARS1	HP:0011448	Ankle clonus
833	CARS1	HP:0012760	Reduced social reciprocity
833	CARS1	HP:0003139	Panhypogammaglobulinemia
833	CARS1	HP:0000823	Delayed puberty
833	CARS1	HP:0045055	Tiger tail banding
833	CARS1	HP:0100275	Diffuse cerebellar atrophy
833	CARS1	HP:0000992	Cutaneous photosensitivity
833	CARS1	HP:0000958	Dry skin
833	CARS1	HP:0000964	Eczema
833	CARS1	HP:0000938	Osteopenia
833	CARS1	HP:0008070	Sparse hair
833	CARS1	HP:0008064	Ichthyosis
833	CARS1	HP:0000286	Epicanthus
833	CARS1	HP:0000280	Coarse facial features
833	CARS1	HP:0000278	Retrognathia
833	CARS1	HP:0025548	Increased mean corpuscular hemoglobin concentration
833	CARS1	HP:0001598	Concave nail
833	CARS1	HP:0002828	Multiple joint contractures
833	CARS1	HP:0000252	Microcephaly
833	CARS1	HP:0001531	Failure to thrive in infancy
833	CARS1	HP:0002860	Squamous cell carcinoma
833	CARS1	HP:0001537	Umbilical hernia
833	CARS1	HP:0001518	Small for gestational age
833	CARS1	HP:0001511	Intrauterine growth retardation
833	CARS1	HP:0006538	Recurrent bronchopulmonary infections
833	CARS1	HP:0001618	Dysphonia
833	CARS1	HP:0002942	Thoracic kyphosis
833	CARS1	HP:0000341	Narrow forehead
833	CARS1	HP:0011001	Increased bone mineral density
833	CARS1	HP:0000348	High forehead
833	CARS1	HP:0000320	Bird-like facies
833	CARS1	HP:0000316	Hypertelorism
833	CARS1	HP:0001629	Ventricular septal defect
833	CARS1	HP:0001638	Cardiomyopathy
833	CARS1	HP:0001631	Atrial septal defect
833	CARS1	HP:0000483	Astigmatism
833	CARS1	HP:0000486	Strabismus
833	CARS1	HP:0000482	Microcornea
833	CARS1	HP:0000490	Deeply set eye
833	CARS1	HP:0000460	Narrow nose
833	CARS1	HP:0000411	Protruding ear
833	CARS1	HP:0001761	Pes cavus
833	CARS1	HP:0000519	Developmental cataract
833	CARS1	HP:0000509	Conjunctivitis
833	CARS1	HP:0001809	Split nail
833	CARS1	HP:0001808	Fragile nails
833	CARS1	HP:0001807	Ridged nail
833	CARS1	HP:0000565	Esotropia
833	CARS1	HP:0000546	Retinal degeneration
833	CARS1	HP:0000545	Myopia
833	CARS1	HP:0001875	Neutropenia
841	CASP8	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
841	CASP8	HP:0000007	Autosomal recessive inheritance
841	CASP8	HP:0000006	Autosomal dominant inheritance
841	CASP8	HP:0001428	Somatic mutation
841	CASP8	HP:0001402	Hepatocellular carcinoma
841	CASP8	HP:0001413	Micronodular cirrhosis
841	CASP8	HP:0002716	Lymphadenopathy
841	CASP8	HP:0002720	Decreased circulating IgA level
841	CASP8	HP:0002028	Chronic diarrhea
841	CASP8	HP:0002099	Asthma
841	CASP8	HP:0002090	Pneumonia
841	CASP8	HP:0033222	Decreased CD4:CD8 ratio
841	CASP8	HP:0033278	Reduced CD95-induced lymphocyte apoptosis
841	CASP8	HP:0004322	Short stature
841	CASP8	HP:0004315	Decreased circulating IgG level
841	CASP8	HP:0003002	Breast carcinoma
841	CASP8	HP:0000964	Eczema
841	CASP8	HP:0030078	Lung adenocarcinoma
841	CASP8	HP:0001508	Failure to thrive
841	CASP8	HP:0002850	Decreased circulating total IgM
841	CASP8	HP:0006572	Subacute progressive viral hepatitis
841	CASP8	HP:0006519	Alveolar cell carcinoma
841	CASP8	HP:0005384	Defective B cell activation
841	CASP8	HP:0005353	Recurrent herpes
841	CASP8	HP:0001744	Splenomegaly
841	CASP8	HP:0005425	Recurrent sinopulmonary infections
841	CASP8	HP:0005419	Decreased T cell activation
841	CASP8	HP:0030358	Non-small cell lung carcinoma
843	CASP10	HP:0100827	Lymphocytosis
843	CASP10	HP:0001250	Seizure
843	CASP10	HP:0002583	Colitis
843	CASP10	HP:0031020	Bone marrow hypercellularity
843	CASP10	HP:0000083	Renal insufficiency
843	CASP10	HP:0000099	Glomerulonephritis
843	CASP10	HP:0001369	Arthritis
843	CASP10	HP:0025300	Malar rash
843	CASP10	HP:0002671	Basal cell carcinoma
843	CASP10	HP:0002665	Lymphoma
843	CASP10	HP:0000006	Autosomal dominant inheritance
843	CASP10	HP:0002633	Vasculitis
843	CASP10	HP:0012190	T-cell lymphoma
843	CASP10	HP:0012191	B-cell lymphoma
843	CASP10	HP:0012189	Hodgkin lymphoma
843	CASP10	HP:0012126	Stomach cancer
843	CASP10	HP:0012115	Hepatitis
843	CASP10	HP:0410067	Increased level of L-fucose in urine
843	CASP10	HP:0000123	Nephritis
843	CASP10	HP:0000100	Nephrotic syndrome
843	CASP10	HP:0001428	Somatic mutation
843	CASP10	HP:0002731	Decreased lymphocyte apoptosis
843	CASP10	HP:0001402	Hepatocellular carcinoma
843	CASP10	HP:0002716	Lymphadenopathy
843	CASP10	HP:0002730	Chronic noninfectious lymphadenopathy
843	CASP10	HP:0002729	Follicular hyperplasia
843	CASP10	HP:0002725	Systemic lupus erythematosus
843	CASP10	HP:0003453	Antineutrophil antibody positivity
843	CASP10	HP:0003454	Platelet antibody positive
843	CASP10	HP:0002113	Pulmonary infiltrates
843	CASP10	HP:0003496	Increased circulating IgM level
843	CASP10	HP:0003493	Antinuclear antibody positivity
843	CASP10	HP:0008209	Premature ovarian insufficiency
843	CASP10	HP:0002240	Hepatomegaly
843	CASP10	HP:0002239	Gastrointestinal hemorrhage
843	CASP10	HP:0003565	Elevated erythrocyte sedimentation rate
843	CASP10	HP:0002206	Pulmonary fibrosis
843	CASP10	HP:0010702	Increased circulating antibody level
843	CASP10	HP:0010619	Fibroadenoma of the breast
843	CASP10	HP:0004844	Coombs-positive hemolytic anemia
843	CASP10	HP:0001025	Urticaria
843	CASP10	HP:0002315	Headache
843	CASP10	HP:0100648	Neoplasm of the tongue
843	CASP10	HP:0100646	Thyroiditis
843	CASP10	HP:0003621	Juvenile onset
843	CASP10	HP:0003613	Antiphospholipid antibody positivity
843	CASP10	HP:0005528	Bone marrow hypocellularity
843	CASP10	HP:0001971	Hypersplenism
843	CASP10	HP:0001973	Autoimmune thrombocytopenia
843	CASP10	HP:0001923	Reticulocytosis
843	CASP10	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
843	CASP10	HP:0004315	Decreased circulating IgG level
843	CASP10	HP:0030782	Abnormal circulating interleukin concentration
843	CASP10	HP:0040126	Abnormal vitamin B12 level
843	CASP10	HP:0000854	Thyroid adenoma
843	CASP10	HP:0003237	Increased circulating IgG level
843	CASP10	HP:0003212	Increased circulating IgE level
843	CASP10	HP:0003262	Smooth muscle antibody positivity
843	CASP10	HP:0003261	Increased circulating IgA level
843	CASP10	HP:0000978	Bruising susceptibility
843	CASP10	HP:0000967	Petechiae
843	CASP10	HP:0008069	Neoplasm of the skin
843	CASP10	HP:0031392	Abnormal proportion of CD4-positive T cells
843	CASP10	HP:0031393	Abnormal proportion of CD8-positive T cells
843	CASP10	HP:0030080	Burkitt lymphoma
843	CASP10	HP:0002890	Thyroid carcinoma
843	CASP10	HP:0002853	Increased proportion of HLA DR+ T cells
843	CASP10	HP:0002850	Decreased circulating total IgM
843	CASP10	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
843	CASP10	HP:0002848	Decreased specific anti-polysaccharide antibody level
843	CASP10	HP:0005263	Gastritis
843	CASP10	HP:0002923	Rheumatoid factor positive
843	CASP10	HP:0002960	Autoimmunity
843	CASP10	HP:0002972	Reduced delayed hypersensitivity
843	CASP10	HP:0012490	Panniculitis
843	CASP10	HP:0001789	Hydrops fetalis
843	CASP10	HP:0011107	Recurrent aphthous stomatitis
843	CASP10	HP:0001744	Splenomegaly
843	CASP10	HP:0005407	Decreased proportion of CD4-positive helper T cells
843	CASP10	HP:0005404	Increased B cell count
843	CASP10	HP:0001892	Abnormal bleeding
843	CASP10	HP:0001891	Iron deficiency anemia
843	CASP10	HP:0001890	Autoimmune hemolytic anemia
843	CASP10	HP:0001888	Lymphopenia
843	CASP10	HP:0000554	Uveitis
843	CASP10	HP:0012539	Non-Hodgkin lymphoma
843	CASP10	HP:0001880	Eosinophilia
843	CASP10	HP:0001873	Thrombocytopenia
844	CASQ1	HP:0003701	Proximal muscle weakness
844	CASQ1	HP:0001324	Muscle weakness
844	CASQ1	HP:0000006	Autosomal dominant inheritance
844	CASQ1	HP:0003326	Myalgia
844	CASQ1	HP:0003394	Muscle spasm
844	CASQ1	HP:0003388	Easy fatigability
844	CASQ1	HP:0003473	Fatigable weakness
844	CASQ1	HP:0003458	EMG: myopathic abnormalities
844	CASQ1	HP:0003554	Type 2 muscle fiber atrophy
844	CASQ1	HP:0003557	Increased variability in muscle fiber diameter
844	CASQ1	HP:0003687	Centrally nucleated skeletal muscle fibers
844	CASQ1	HP:0003198	Myopathy
844	CASQ1	HP:0100301	Muscle fiber tubular inclusions
844	CASQ1	HP:0003236	Elevated circulating creatine kinase concentration
844	CASQ1	HP:0030200	Fatiguable weakness of proximal limb muscles
845	CASQ2	HP:0001279	Syncope
845	CASQ2	HP:0001250	Seizure
845	CASQ2	HP:0000007	Autosomal recessive inheritance
845	CASQ2	HP:0000006	Autosomal dominant inheritance
845	CASQ2	HP:0025478	Atrial standstill
845	CASQ2	HP:0011704	Sick sinus syndrome
845	CASQ2	HP:0004758	Effort-induced polymorphic ventricular tachycardia
845	CASQ2	HP:0004757	Paroxysmal atrial fibrillation
845	CASQ2	HP:0004756	Ventricular tachycardia
845	CASQ2	HP:0002321	Vertigo
845	CASQ2	HP:0003621	Juvenile onset
845	CASQ2	HP:0034039	Ventricular couplet
845	CASQ2	HP:0034040	Bidirectional ventricular tachycardia
845	CASQ2	HP:0011463	Childhood onset
845	CASQ2	HP:0011462	Young adult onset
845	CASQ2	HP:0001699	Sudden death
845	CASQ2	HP:0001678	Atrioventricular block
845	CASQ2	HP:0001645	Sudden cardiac death
845	CASQ2	HP:0001644	Dilated cardiomyopathy
845	CASQ2	HP:0001662	Bradycardia
845	CASQ2	HP:0006673	Reduced systolic function
845	CASQ2	HP:0031677	Polymorphic ventricular tachycardia
846	CASR	HP:0003761	Calcinosis
846	CASR	HP:0001290	Generalized hypotonia
846	CASR	HP:0001281	Tetany
846	CASR	HP:0001250	Seizure
846	CASR	HP:0001252	Hypotonia
846	CASR	HP:0001231	Abnormal fingernail morphology
846	CASR	HP:0007400	Irregular hyperpigmentation
846	CASR	HP:0002516	Increased intracranial pressure
846	CASR	HP:0008872	Feeding difficulties in infancy
846	CASR	HP:0000007	Autosomal recessive inheritance
846	CASR	HP:0000006	Autosomal dominant inheritance
846	CASR	HP:0002615	Hypotension
846	CASR	HP:0025425	Laryngospasm
846	CASR	HP:0000121	Nephrocalcinosis
846	CASR	HP:0002793	Abnormal pattern of respiration
846	CASR	HP:0002789	Tachypnea
846	CASR	HP:0002757	Recurrent fractures
846	CASR	HP:0000103	Polyuria
846	CASR	HP:0003355	Aminoaciduria
846	CASR	HP:0002019	Constipation
846	CASR	HP:0002027	Abdominal pain
846	CASR	HP:0100530	Abnormal calcium-phosphate regulating hormone level
846	CASR	HP:0002094	Dyspnea
846	CASR	HP:0003394	Muscle spasm
846	CASR	HP:0003473	Fatigable weakness
846	CASR	HP:0002150	Hypercalciuria
846	CASR	HP:0002148	Hypophosphatemia
846	CASR	HP:0002135	Basal ganglia calcification
846	CASR	HP:0003457	EMG abnormality
846	CASR	HP:0008200	Primary hyperparathyroidism
846	CASR	HP:0003401	Paresthesia
846	CASR	HP:0002240	Hepatomegaly
846	CASR	HP:0002356	Writer's cramp
846	CASR	HP:0003621	Juvenile onset
846	CASR	HP:0031817	Decreased circulating parathyroid hormone level
846	CASR	HP:0000648	Optic atrophy
846	CASR	HP:0001974	Leukocytosis
846	CASR	HP:0012608	Hypermagnesiuria
846	CASR	HP:0001959	Polydipsia
846	CASR	HP:0001903	Anemia
846	CASR	HP:0004322	Short stature
846	CASR	HP:0003072	Hypercalcemia
846	CASR	HP:0004372	Reduced consciousness/confusion
846	CASR	HP:0003025	Metaphyseal irregularity
846	CASR	HP:0004349	Reduced bone mineral density
846	CASR	HP:0100027	Recurrent pancreatitis
846	CASR	HP:0000739	Anxiety
846	CASR	HP:0000716	Depression
846	CASR	HP:0000712	Emotional lability
846	CASR	HP:0000708	Atypical behavior
846	CASR	HP:0011463	Childhood onset
846	CASR	HP:0011462	Young adult onset
846	CASR	HP:0000774	Narrow chest
846	CASR	HP:0000787	Nephrolithiasis
846	CASR	HP:0003109	Hyperphosphaturia
846	CASR	HP:0003165	Elevated circulating parathyroid hormone level
846	CASR	HP:0003127	Hypocalciuria
846	CASR	HP:0000848	Increased circulating renin level
846	CASR	HP:0000843	Hyperparathyroidism
846	CASR	HP:0000819	Diabetes mellitus
846	CASR	HP:0000820	Abnormality of the thyroid gland
846	CASR	HP:0000958	Dry skin
846	CASR	HP:0000952	Jaundice
846	CASR	HP:0000964	Eczema
846	CASR	HP:0000944	Abnormal metaphysis morphology
846	CASR	HP:0040148	Cortical myoclonus
846	CASR	HP:0011675	Arrhythmia
846	CASR	HP:0001597	Abnormality of the nail
846	CASR	HP:0001596	Alopecia
846	CASR	HP:0002897	Parathyroid adenoma
846	CASR	HP:0012213	Decreased glomerular filtration rate
846	CASR	HP:0001508	Failure to thrive
846	CASR	HP:0012379	Abnormal circulating enzyme concentration or activity
846	CASR	HP:0005213	Pancreatic calcification
846	CASR	HP:0002917	Hypomagnesemia
846	CASR	HP:0002918	Hypermagnesemia
846	CASR	HP:0002905	Hyperphosphatemia
846	CASR	HP:0002900	Hypokalemia
846	CASR	HP:0002901	Hypocalcemia
846	CASR	HP:0001635	Congestive heart failure
846	CASR	HP:0001733	Pancreatitis
846	CASR	HP:0030247	Splanchnic vein thrombosis
846	CASR	HP:0001744	Splenomegaly
846	CASR	HP:0011227	Elevated circulating C-reactive protein concentration
847	CAT	HP:0000007	Autosomal recessive inheritance
847	CAT	HP:0002634	Arteriosclerosis
847	CAT	HP:0001300	Parkinsonism
847	CAT	HP:0000166	Severe periodontitis
847	CAT	HP:0000155	Oral ulcer
847	CAT	HP:0006357	Premature loss of permanent teeth
847	CAT	HP:0005978	Type II diabetes mellitus
847	CAT	HP:0100753	Schizophrenia
847	CAT	HP:0100758	Gangrene
847	CAT	HP:0001045	Vitiligo
847	CAT	HP:0100651	Type I diabetes mellitus
847	CAT	HP:0100605	Neoplasm of the larynx
847	CAT	HP:0001935	Microcytic anemia
847	CAT	HP:0040113	Old-aged sensorineural hearing impairment
847	CAT	HP:0000230	Gingivitis
847	CAT	HP:0000225	Gingival bleeding
847	CAT	HP:0012531	Pain
847	CAT	HP:0012517	Reduced catalase level
857	CAV1	HP:0001176	Large hands
857	CAV1	HP:0100958	Narrow foramen obturatorium
857	CAV1	HP:0009938	Sunken cheeks
857	CAV1	HP:0003758	Reduced subcutaneous adipose tissue
857	CAV1	HP:0003712	Skeletal muscle hypertrophy
857	CAV1	HP:0001278	Orthostatic hypotension
857	CAV1	HP:0001249	Intellectual disability
857	CAV1	HP:0001263	Global developmental delay
857	CAV1	HP:0007340	Lower limb muscle weakness
857	CAV1	HP:0008665	Clitoral hypertrophy
857	CAV1	HP:0003829	Typified by incomplete penetrance
857	CAV1	HP:0000083	Renal insufficiency
857	CAV1	HP:0012062	Bone cyst
857	CAV1	HP:0001397	Hepatic steatosis
857	CAV1	HP:0001394	Cirrhosis
857	CAV1	HP:0001371	Flexion contracture
857	CAV1	HP:0001369	Arthritis
857	CAV1	HP:0001347	Hyperreflexia
857	CAV1	HP:0008887	Adipose tissue loss
857	CAV1	HP:0007485	Absence of subcutaneous fat
857	CAV1	HP:0001324	Muscle weakness
857	CAV1	HP:0000007	Autosomal recessive inheritance
857	CAV1	HP:0000006	Autosomal dominant inheritance
857	CAV1	HP:0001310	Dysmetria
857	CAV1	HP:0000160	Narrow mouth
857	CAV1	HP:0000158	Macroglossia
857	CAV1	HP:0000141	Amenorrhea
857	CAV1	HP:0002797	Osteolysis
857	CAV1	HP:0000147	Polycystic ovaries
857	CAV1	HP:0000103	Polyuria
857	CAV1	HP:0001433	Hepatosplenomegaly
857	CAV1	HP:0002024	Malabsorption
857	CAV1	HP:0002020	Gastroesophageal reflux
857	CAV1	HP:0002017	Nausea and vomiting
857	CAV1	HP:0005995	Decreased adipose tissue around neck
857	CAV1	HP:0002014	Diarrhea
857	CAV1	HP:0002015	Dysphagia
857	CAV1	HP:0002013	Vomiting
857	CAV1	HP:0002094	Dyspnea
857	CAV1	HP:0002092	Pulmonary arterial hypertension
857	CAV1	HP:0002066	Gait ataxia
857	CAV1	HP:0002075	Dysdiadochokinesis
857	CAV1	HP:0100520	Oliguria
857	CAV1	HP:0100585	Telangiectasia of the skin
857	CAV1	HP:0100579	Mucosal telangiectasiae
857	CAV1	HP:0040270	Impaired glucose tolerance
857	CAV1	HP:0010465	Precocious puberty in females
857	CAV1	HP:0009473	Joint contracture of the hand
857	CAV1	HP:0002155	Hypertriglyceridemia
857	CAV1	HP:0003487	Babinski sign
857	CAV1	HP:0002113	Pulmonary infiltrates
857	CAV1	HP:0002108	Spontaneous pneumothorax
857	CAV1	HP:0002169	Clonus
857	CAV1	HP:0002162	Low posterior hairline
857	CAV1	HP:0003596	Middle age onset
857	CAV1	HP:0003593	Infantile onset
857	CAV1	HP:0003577	Congenital onset
857	CAV1	HP:0002240	Hepatomegaly
857	CAV1	HP:0003584	Late onset
857	CAV1	HP:0004890	Elevated pulmonary artery pressure
857	CAV1	HP:0002202	Pleural effusion
857	CAV1	HP:0002209	Sparse scalp hair
857	CAV1	HP:0002206	Pulmonary fibrosis
857	CAV1	HP:0100735	Hypertensive crisis
857	CAV1	HP:0008366	Foot joint contracture
857	CAV1	HP:0011968	Feeding difficulties
857	CAV1	HP:0001053	Hypopigmented skin patches
857	CAV1	HP:0001007	Hirsutism
857	CAV1	HP:0001015	Prominent superficial veins
857	CAV1	HP:0001000	Abnormality of skin pigmentation
857	CAV1	HP:0100651	Type I diabetes mellitus
857	CAV1	HP:0200042	Skin ulcer
857	CAV1	HP:0009762	Facial wrinkling
857	CAV1	HP:0003623	Neonatal onset
857	CAV1	HP:0003635	Loss of subcutaneous adipose tissue in limbs
857	CAV1	HP:0003621	Juvenile onset
857	CAV1	HP:0000639	Nystagmus
857	CAV1	HP:0001952	Glucose intolerance
857	CAV1	HP:0009064	Generalized lipodystrophy
857	CAV1	HP:0000670	Carious teeth
857	CAV1	HP:0001999	Abnormal facial shape
857	CAV1	HP:0004322	Short stature
857	CAV1	HP:0005616	Accelerated skeletal maturation
857	CAV1	HP:0011407	Proportionate tall stature
857	CAV1	HP:0100027	Recurrent pancreatitis
857	CAV1	HP:0011463	Childhood onset
857	CAV1	HP:0011462	Young adult onset
857	CAV1	HP:0009125	Lipodystrophy
857	CAV1	HP:0000786	Primary amenorrhea
857	CAV1	HP:0003124	Hypercholesterolemia
857	CAV1	HP:0030796	Increased C-peptide level
857	CAV1	HP:0003196	Short nose
857	CAV1	HP:0000876	Oligomenorrhea
857	CAV1	HP:0000855	Insulin resistance
857	CAV1	HP:0000842	Hyperinsulinemia
857	CAV1	HP:0000819	Diabetes mellitus
857	CAV1	HP:0000822	Hypertension
857	CAV1	HP:0003247	Overgrowth of external genitalia
857	CAV1	HP:0000998	Hypertrichosis
857	CAV1	HP:0000958	Dry skin
857	CAV1	HP:0000956	Acanthosis nigricans
857	CAV1	HP:0000951	Abnormality of the skin
857	CAV1	HP:0000965	Cutis marmorata
857	CAV1	HP:0000963	Thin skin
857	CAV1	HP:0008070	Sparse hair
857	CAV1	HP:0000294	Low anterior hairline
857	CAV1	HP:0002829	Arthralgia
857	CAV1	HP:0000239	Large fontanelles
857	CAV1	HP:0000217	Xerostomia
857	CAV1	HP:0030016	Dyspareunia
857	CAV1	HP:0001508	Failure to thrive
857	CAV1	HP:0001518	Small for gestational age
857	CAV1	HP:0006548	Pulmonary arteriovenous malformation
857	CAV1	HP:0002936	Distal sensory impairment
857	CAV1	HP:0002901	Hypocalcemia
857	CAV1	HP:0000360	Tinnitus
857	CAV1	HP:0000369	Low-set ears
857	CAV1	HP:0000336	Prominent supraorbital ridges
857	CAV1	HP:0030142	Abnormal bowel sounds
857	CAV1	HP:0000325	Triangular face
857	CAV1	HP:0002960	Autoimmunity
857	CAV1	HP:0001639	Hypertrophic cardiomyopathy
857	CAV1	HP:0001635	Congestive heart failure
857	CAV1	HP:0000303	Mandibular prognathia
857	CAV1	HP:0005328	Progeroid facial appearance
857	CAV1	HP:0005320	Lack of facial subcutaneous fat
857	CAV1	HP:0005317	Increased pulmonary vascular resistance
857	CAV1	HP:0000418	Narrow nasal ridge
857	CAV1	HP:0001744	Splenomegaly
857	CAV1	HP:0000518	Cataract
857	CAV1	HP:0000519	Developmental cataract
857	CAV1	HP:0001833	Long foot
857	CAV1	HP:0000580	Pigmentary retinopathy
859	CAV3	HP:0001197	Abnormality of prenatal development or birth
859	CAV3	HP:0003750	Increased muscle fatiguability
859	CAV3	HP:0003760	Percussion-induced rapid rolling muscle contractions
859	CAV3	HP:0003722	Neck flexor weakness
859	CAV3	HP:0003738	Exercise-induced myalgia
859	CAV3	HP:0003737	Mitochondrial myopathy
859	CAV3	HP:0003707	Calf muscle pseudohypertrophy
859	CAV3	HP:0003701	Proximal muscle weakness
859	CAV3	HP:0003719	Muscle mounding
859	CAV3	HP:0003712	Skeletal muscle hypertrophy
859	CAV3	HP:0003710	Exercise-induced muscle cramps
859	CAV3	HP:0001284	Areflexia
859	CAV3	HP:0001279	Syncope
859	CAV3	HP:0001250	Seizure
859	CAV3	HP:0003803	Type 1 muscle fiber predominance
859	CAV3	HP:0000006	Autosomal dominant inheritance
859	CAV3	HP:0025435	Increased circulating lactate dehydrogenase concentration
859	CAV3	HP:0008981	Calf muscle hypertrophy
859	CAV3	HP:0008962	Calf muscle hypoplasia
859	CAV3	HP:0008967	Exercise-induced muscle stiffness
859	CAV3	HP:0008954	Intrinsic hand muscle atrophy
859	CAV3	HP:0500018	Abnormal cardiac exercise stress test
859	CAV3	HP:0000118	Phenotypic abnormality
859	CAV3	HP:0003326	Myalgia
859	CAV3	HP:0003394	Muscle spasm
859	CAV3	HP:0003391	Gowers sign
859	CAV3	HP:0003457	EMG abnormality
859	CAV3	HP:0003458	EMG: myopathic abnormalities
859	CAV3	HP:0003560	Muscular dystrophy
859	CAV3	HP:0003559	Muscle hyperirritability
859	CAV3	HP:0003557	Increased variability in muscle fiber diameter
859	CAV3	HP:0100749	Chest pain
859	CAV3	HP:0008331	Elevated creatine kinase after exercise
859	CAV3	HP:0003687	Centrally nucleated skeletal muscle fibers
859	CAV3	HP:0025070	Abnormal U wave
859	CAV3	HP:0002312	Clumsiness
859	CAV3	HP:0003621	Juvenile onset
859	CAV3	HP:0009071	Inflammatory myopathy
859	CAV3	HP:0001962	Palpitations
859	CAV3	HP:0009063	Progressive distal muscle weakness
859	CAV3	HP:0009005	Weakness of the intrinsic hand muscles
859	CAV3	HP:0031956	Elevated circulating aspartate aminotransferase concentration
859	CAV3	HP:0004303	Abnormal muscle fiber morphology
859	CAV3	HP:0004308	Ventricular arrhythmia
859	CAV3	HP:0003124	Hypercholesterolemia
859	CAV3	HP:0003198	Myopathy
859	CAV3	HP:0040081	Abnormal circulating creatine kinase concentration
859	CAV3	HP:0003236	Elevated circulating creatine kinase concentration
859	CAV3	HP:0008075	Progressive pes cavus
859	CAV3	HP:0011675	Arrhythmia
859	CAV3	HP:0005135	Abnormal T-wave
859	CAV3	HP:0030089	Abnormal muscle fiber protein expression
859	CAV3	HP:0012378	Fatigue
859	CAV3	HP:0002936	Distal sensory impairment
859	CAV3	HP:0005184	Prolonged QTc interval
859	CAV3	HP:0002900	Hypokalemia
859	CAV3	HP:0000365	Hearing impairment
859	CAV3	HP:0001695	Cardiac arrest
859	CAV3	HP:0001688	Sinus bradycardia
859	CAV3	HP:0001699	Sudden death
859	CAV3	HP:0001670	Asymmetric septal hypertrophy
859	CAV3	HP:0012332	Abnormal autonomic nervous system physiology
859	CAV3	HP:0001664	Torsade de pointes
859	CAV3	HP:0001682	Subvalvular aortic stenosis
859	CAV3	HP:0001645	Sudden cardiac death
859	CAV3	HP:0001657	Prolonged QT interval
859	CAV3	HP:0001635	Congestive heart failure
859	CAV3	HP:0030237	Hand muscle weakness
859	CAV3	HP:0000467	Neck muscle weakness
859	CAV3	HP:0025710	Late young adult onset
859	CAV3	HP:0001761	Pes cavus
860	RUNX2	HP:0001172	Abnormal thumb morphology
860	RUNX2	HP:0001182	Tapered finger
860	RUNX2	HP:0001156	Brachydactyly
860	RUNX2	HP:0100864	Short femoral neck
860	RUNX2	HP:0006040	Long second metacarpal
860	RUNX2	HP:0002684	Thickened calvaria
860	RUNX2	HP:0002689	Absent paranasal sinuses
860	RUNX2	HP:0002688	Absent frontal sinuses
860	RUNX2	HP:0008848	Moderately short stature
860	RUNX2	HP:0008821	Hypoplastic inferior ilia
860	RUNX2	HP:0008788	Delayed pubic bone ossification
860	RUNX2	HP:0002659	Increased susceptibility to fractures
860	RUNX2	HP:0000006	Autosomal dominant inheritance
860	RUNX2	HP:0002652	Skeletal dysplasia
860	RUNX2	HP:0002650	Scoliosis
860	RUNX2	HP:0002645	Wormian bones
860	RUNX2	HP:0002643	Neonatal respiratory distress
860	RUNX2	HP:0002644	Abnormal pelvic girdle bone morphology
860	RUNX2	HP:0000189	Narrow palate
860	RUNX2	HP:0000164	Abnormality of the dentition
860	RUNX2	HP:0000162	Glossoptosis
860	RUNX2	HP:0000175	Cleft palate
860	RUNX2	HP:0002705	High, narrow palate
860	RUNX2	HP:0002700	Large foramen magnum
860	RUNX2	HP:0006297	Enamel hypoplasia
860	RUNX2	HP:0002757	Recurrent fractures
860	RUNX2	HP:0002738	Hypoplastic frontal sinuses
860	RUNX2	HP:0002007	Frontal bossing
860	RUNX2	HP:0003304	Spondylolysis
860	RUNX2	HP:0003302	Spondylolisthesis
860	RUNX2	HP:0011800	Midface retrusion
860	RUNX2	HP:0002098	Respiratory distress
860	RUNX2	HP:0003396	Syringomyelia
860	RUNX2	HP:0005930	Abnormal epiphysis morphology
860	RUNX2	HP:0005916	Abnormal metacarpal morphology
860	RUNX2	HP:0009577	Short middle phalanx of the 2nd finger
860	RUNX2	HP:0010535	Sleep apnea
860	RUNX2	HP:0003577	Congenital onset
860	RUNX2	HP:0002205	Recurrent respiratory infections
860	RUNX2	HP:0010669	Hypoplasia of the zygomatic bone
860	RUNX2	HP:0008391	Dystrophic fingernails
860	RUNX2	HP:0200021	Down-sloping shoulders
860	RUNX2	HP:0010807	Open bite
860	RUNX2	HP:0010751	Dimple chin
860	RUNX2	HP:0004209	Clinodactyly of the 5th finger
860	RUNX2	HP:0004220	Short middle phalanx of the 5th finger
860	RUNX2	HP:0010047	Short 5th metacarpal
860	RUNX2	HP:0000696	Delayed eruption of permanent teeth
860	RUNX2	HP:0000682	Abnormal dental enamel morphology
860	RUNX2	HP:0000684	Delayed eruption of teeth
860	RUNX2	HP:0000680	Delayed eruption of primary teeth
860	RUNX2	HP:0000670	Carious teeth
860	RUNX2	HP:0004322	Short stature
860	RUNX2	HP:0004331	Decreased skull ossification
860	RUNX2	HP:0005625	Osteoporosis of vertebrae
860	RUNX2	HP:0003015	Flared metaphysis
860	RUNX2	HP:0000772	Abnormal rib morphology
860	RUNX2	HP:0000774	Narrow chest
860	RUNX2	HP:0000773	Short ribs
860	RUNX2	HP:0000926	Platyspondyly
860	RUNX2	HP:0003183	Wide pubic symphysis
860	RUNX2	HP:0004474	Persistent open anterior fontanelle
860	RUNX2	HP:0000882	Hypoplastic scapulae
860	RUNX2	HP:0000891	Cervical ribs
860	RUNX2	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
860	RUNX2	HP:0000894	Short clavicles
860	RUNX2	HP:0005877	Multiple small vertebral fractures
860	RUNX2	HP:0003298	Spina bifida occulta
860	RUNX2	HP:0100255	Metaphyseal dysplasia
860	RUNX2	HP:0000939	Osteoporosis
860	RUNX2	HP:0000256	Macrocephaly
860	RUNX2	HP:0000272	Malar flattening
860	RUNX2	HP:0005107	Abnormal sacrum morphology
860	RUNX2	HP:0002812	Coxa vara
860	RUNX2	HP:0002827	Hip dislocation
860	RUNX2	HP:0002808	Kyphosis
860	RUNX2	HP:0000242	Parietal bossing
860	RUNX2	HP:0000239	Large fontanelles
860	RUNX2	HP:0000246	Sinusitis
860	RUNX2	HP:0000248	Brachycephaly
860	RUNX2	HP:0000218	High palate
860	RUNX2	HP:0000233	Thin vermilion border
860	RUNX2	HP:0002857	Genu valgum
860	RUNX2	HP:0002866	Hypoplastic iliac wing
860	RUNX2	HP:0011069	Supernumerary tooth
860	RUNX2	HP:0000389	Chronic otitis media
860	RUNX2	HP:0005259	Abnormal facility in opposing the shoulders
860	RUNX2	HP:0006480	Premature loss of teeth
860	RUNX2	HP:0000365	Hearing impairment
860	RUNX2	HP:0000364	Hearing abnormality
860	RUNX2	HP:0000340	Sloping forehead
860	RUNX2	HP:0011001	Increased bone mineral density
860	RUNX2	HP:0000337	Broad forehead
860	RUNX2	HP:0000347	Micrognathia
860	RUNX2	HP:0000316	Hypertelorism
860	RUNX2	HP:0000327	Hypoplasia of the maxilla
860	RUNX2	HP:0000322	Short philtrum
860	RUNX2	HP:0000303	Mandibular prognathia
860	RUNX2	HP:0006660	Aplastic clavicle
860	RUNX2	HP:0005280	Depressed nasal bridge
860	RUNX2	HP:0000444	Convex nasal ridge
860	RUNX2	HP:0000431	Wide nasal bridge
860	RUNX2	HP:0001810	Dystrophic toenail
860	RUNX2	HP:0011219	Short face
861	RUNX1	HP:0025142	Constitutional symptom
861	RUNX1	HP:0100845	Anaphylactic shock
861	RUNX1	HP:0002665	Lymphoma
861	RUNX1	HP:0000006	Autosomal dominant inheritance
861	RUNX1	HP:0002653	Bone pain
861	RUNX1	HP:0002615	Hypotension
861	RUNX1	HP:0002797	Osteolysis
861	RUNX1	HP:0031284	Flushing
861	RUNX1	HP:0001428	Somatic mutation
861	RUNX1	HP:0002756	Pathologic fracture
861	RUNX1	HP:0001433	Hepatosplenomegaly
861	RUNX1	HP:0001410	Decreased liver function
861	RUNX1	HP:0001409	Portal hypertension
861	RUNX1	HP:0002716	Lymphadenopathy
861	RUNX1	HP:0002024	Malabsorption
861	RUNX1	HP:0002027	Abdominal pain
861	RUNX1	HP:0002014	Diarrhea
861	RUNX1	HP:0002039	Anorexia
861	RUNX1	HP:0100494	Abnormal mast cell morphology
861	RUNX1	HP:0011875	Abnormal platelet morphology
861	RUNX1	HP:0002239	Gastrointestinal hemorrhage
861	RUNX1	HP:0003540	Impaired platelet aggregation
861	RUNX1	HP:0004845	Acute monocytic leukemia
861	RUNX1	HP:0004808	Acute myeloid leukemia
861	RUNX1	HP:0001025	Urticaria
861	RUNX1	HP:0032155	Abdominal cramps
861	RUNX1	HP:0005547	Myeloproliferative disorder
861	RUNX1	HP:0001971	Hypersplenism
861	RUNX1	HP:0001974	Leukocytosis
861	RUNX1	HP:0001945	Fever
861	RUNX1	HP:0001909	Leukemia
861	RUNX1	HP:0001903	Anemia
861	RUNX1	HP:0001911	Abnormal granulocyte morphology
861	RUNX1	HP:0001912	Abnormal basophil morphology
861	RUNX1	HP:0004396	Poor appetite
861	RUNX1	HP:0031901	Elevated total serum tryptase
861	RUNX1	HP:0004377	Hematological neoplasm
861	RUNX1	HP:0003010	Prolonged bleeding time
861	RUNX1	HP:0003006	Neuroblastoma
861	RUNX1	HP:0003155	Elevated circulating alkaline phosphatase concentration
861	RUNX1	HP:0000978	Bruising susceptibility
861	RUNX1	HP:0000989	Pruritus
861	RUNX1	HP:0000939	Osteoporosis
861	RUNX1	HP:0008066	Abnormal blistering of the skin
861	RUNX1	HP:0040186	Maculopapular exanthema
861	RUNX1	HP:0031408	Increased proportion of CD25+ mast cells
861	RUNX1	HP:0002829	Arthralgia
861	RUNX1	HP:0001541	Ascites
861	RUNX1	HP:0002863	Myelodysplasia
861	RUNX1	HP:0012378	Fatigue
861	RUNX1	HP:0011121	Abnormality of skin morphology
861	RUNX1	HP:0001744	Splenomegaly
861	RUNX1	HP:0000421	Epistaxis
861	RUNX1	HP:0001824	Weight loss
861	RUNX1	HP:0001894	Thrombocytosis
861	RUNX1	HP:0001871	Abnormality of blood and blood-forming tissues
861	RUNX1	HP:0012529	Abnormal dense granule content
861	RUNX1	HP:0012527	Abnormal alpha granule content
861	RUNX1	HP:0012524	Abnormal platelet shape
861	RUNX1	HP:0001873	Thrombocytopenia
861	RUNX1	HP:0001876	Pancytopenia
861	RUNX1	HP:0001875	Neutropenia
865	CBFB	HP:0009882	Short distal phalanx of finger
865	CBFB	HP:0001263	Global developmental delay
865	CBFB	HP:0001216	Delayed ossification of carpal bones
865	CBFB	HP:0001357	Plagiocephaly
865	CBFB	HP:0008788	Delayed pubic bone ossification
865	CBFB	HP:0002673	Coxa valga
865	CBFB	HP:0000006	Autosomal dominant inheritance
865	CBFB	HP:0003577	Congenital onset
865	CBFB	HP:0200021	Down-sloping shoulders
865	CBFB	HP:0003621	Juvenile onset
865	CBFB	HP:0000680	Delayed eruption of primary teeth
865	CBFB	HP:0011304	Broad thumb
865	CBFB	HP:0011463	Childhood onset
865	CBFB	HP:0011462	Young adult onset
865	CBFB	HP:0000894	Short clavicles
865	CBFB	HP:0000938	Osteopenia
865	CBFB	HP:0000260	Wide anterior fontanel
865	CBFB	HP:0002857	Genu valgum
865	CBFB	HP:0001508	Failure to thrive
865	CBFB	HP:0011069	Supernumerary tooth
865	CBFB	HP:0006585	Congenital pseudoarthrosis of the clavicle
865	CBFB	HP:0000365	Hearing impairment
865	CBFB	HP:0000327	Hypoplasia of the maxilla
865	CBFB	HP:0000307	Pointed chin
865	CBFB	HP:0006660	Aplastic clavicle
865	CBFB	HP:0001763	Pes planus
865	CBFB	HP:0011220	Prominent forehead
866	SERPINA6	HP:0003750	Increased muscle fatiguability
866	SERPINA6	HP:0000007	Autosomal recessive inheritance
866	SERPINA6	HP:0000006	Autosomal dominant inheritance
866	SERPINA6	HP:0002615	Hypotension
866	SERPINA6	HP:0025406	Asthenia
866	SERPINA6	HP:0008163	Decreased circulating cortisol level
866	SERPINA6	HP:0003581	Adult onset
866	SERPINA6	HP:0001903	Anemia
866	SERPINA6	HP:0000822	Hypertension
866	SERPINA6	HP:0012378	Fatigue
866	SERPINA6	HP:0012364	Decreased urinary potassium
866	SERPINA6	HP:0002900	Hypokalemia
867	CBL	HP:0025142	Constitutional symptom
867	CBL	HP:0001156	Brachydactyly
867	CBL	HP:0001252	Hypotonia
867	CBL	HP:0001260	Dysarthria
867	CBL	HP:0001263	Global developmental delay
867	CBL	HP:0100845	Anaphylactic shock
867	CBL	HP:0002553	Highly arched eyebrow
867	CBL	HP:0006094	Finger joint hypermobility
867	CBL	HP:0000078	Abnormality of the genital system
867	CBL	HP:0000044	Hypogonadotropic hypogonadism
867	CBL	HP:0001388	Joint laxity
867	CBL	HP:0001382	Joint hypermobility
867	CBL	HP:0000028	Cryptorchidism
867	CBL	HP:0008897	Postnatal growth retardation
867	CBL	HP:0008872	Feeding difficulties in infancy
867	CBL	HP:0007477	Abnormal dermatoglyphics
867	CBL	HP:0001324	Muscle weakness
867	CBL	HP:0000006	Autosomal dominant inheritance
867	CBL	HP:0002653	Bone pain
867	CBL	HP:0002650	Scoliosis
867	CBL	HP:0002615	Hypotension
867	CBL	HP:0000179	Thick lower lip vermilion
867	CBL	HP:0002797	Osteolysis
867	CBL	HP:0031284	Flushing
867	CBL	HP:0001428	Somatic mutation
867	CBL	HP:0002756	Pathologic fracture
867	CBL	HP:0001433	Hepatosplenomegaly
867	CBL	HP:0001410	Decreased liver function
867	CBL	HP:0001409	Portal hypertension
867	CBL	HP:0002750	Delayed skeletal maturation
867	CBL	HP:0002716	Lymphadenopathy
867	CBL	HP:0002024	Malabsorption
867	CBL	HP:0002033	Poor suck
867	CBL	HP:0002027	Abdominal pain
867	CBL	HP:0002002	Deep philtrum
867	CBL	HP:0002014	Diarrhea
867	CBL	HP:0002007	Frontal bossing
867	CBL	HP:0011800	Midface retrusion
867	CBL	HP:0002039	Anorexia
867	CBL	HP:0002167	Abnormality of speech or vocalization
867	CBL	HP:0002162	Low posterior hairline
867	CBL	HP:0100494	Abnormal mast cell morphology
867	CBL	HP:0011869	Abnormal platelet function
867	CBL	HP:0003593	Infantile onset
867	CBL	HP:0002240	Hepatomegaly
867	CBL	HP:0002239	Gastrointestinal hemorrhage
867	CBL	HP:0002213	Fine hair
867	CBL	HP:0002208	Coarse hair
867	CBL	HP:0100763	Abnormality of the lymphatic system
867	CBL	HP:0001004	Lymphedema
867	CBL	HP:0001025	Urticaria
867	CBL	HP:0100625	Enlarged thorax
867	CBL	HP:0032155	Abdominal cramps
867	CBL	HP:0004209	Clinodactyly of the 5th finger
867	CBL	HP:0001971	Hypersplenism
867	CBL	HP:0000639	Nystagmus
867	CBL	HP:0001974	Leukocytosis
867	CBL	HP:0001928	Abnormality of coagulation
867	CBL	HP:0001909	Leukemia
867	CBL	HP:0001903	Anemia
867	CBL	HP:0011381	Aplasia of the semicircular canal
867	CBL	HP:0011362	Abnormal hair quantity
867	CBL	HP:0004322	Short stature
867	CBL	HP:0030680	Abnormality of cardiovascular system morphology
867	CBL	HP:0031901	Elevated total serum tryptase
867	CBL	HP:0005692	Joint hyperflexibility
867	CBL	HP:0004377	Hematological neoplasm
867	CBL	HP:0000767	Pectus excavatum
867	CBL	HP:0000768	Pectus carinatum
867	CBL	HP:0000736	Short attention span
867	CBL	HP:0000750	Delayed speech and language development
867	CBL	HP:0004415	Pulmonary artery stenosis
867	CBL	HP:0003155	Elevated circulating alkaline phosphatase concentration
867	CBL	HP:0000995	Melanocytic nevus
867	CBL	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
867	CBL	HP:0010310	Chylothorax
867	CBL	HP:0000989	Pruritus
867	CBL	HP:0000957	Cafe-au-lait spot
867	CBL	HP:0000939	Osteoporosis
867	CBL	HP:0008070	Sparse hair
867	CBL	HP:0008066	Abnormal blistering of the skin
867	CBL	HP:0040186	Maculopapular exanthema
867	CBL	HP:0011675	Arrhythmia
867	CBL	HP:0000286	Epicanthus
867	CBL	HP:0000278	Retrognathia
867	CBL	HP:0031408	Increased proportion of CD25+ mast cells
867	CBL	HP:0002829	Arthralgia
867	CBL	HP:0000252	Microcephaly
867	CBL	HP:0012209	Juvenile myelomonocytic leukemia
867	CBL	HP:0000218	High palate
867	CBL	HP:0001561	Polyhydramnios
867	CBL	HP:0001541	Ascites
867	CBL	HP:0001508	Failure to thrive
867	CBL	HP:0012378	Fatigue
867	CBL	HP:0000396	Overfolded helix
867	CBL	HP:0000391	Thickened helices
867	CBL	HP:0000358	Posteriorly rotated ears
867	CBL	HP:0000369	Low-set ears
867	CBL	HP:0000368	Low-set, posteriorly rotated ears
867	CBL	HP:0000343	Long philtrum
867	CBL	HP:0000337	Broad forehead
867	CBL	HP:0000348	High forehead
867	CBL	HP:0000347	Micrognathia
867	CBL	HP:0001650	Aortic valve stenosis
867	CBL	HP:0001647	Bicuspid aortic valve
867	CBL	HP:0000316	Hypertelorism
867	CBL	HP:0002974	Radioulnar synostosis
867	CBL	HP:0001653	Mitral regurgitation
867	CBL	HP:0000325	Triangular face
867	CBL	HP:0001641	Abnormal pulmonary valve morphology
867	CBL	HP:0002967	Cubitus valgus
867	CBL	HP:0006610	Wide intermamillary distance
867	CBL	HP:0000407	Sensorineural hearing impairment
867	CBL	HP:0000400	Macrotia
867	CBL	HP:0005280	Depressed nasal bridge
867	CBL	HP:0000486	Strabismus
867	CBL	HP:0012471	Thick vermilion border
867	CBL	HP:0000476	Cystic hygroma
867	CBL	HP:0000494	Downslanted palpebral fissures
867	CBL	HP:0000463	Anteverted nares
867	CBL	HP:0011121	Abnormality of skin morphology
867	CBL	HP:0000474	Thickened nuchal skin fold
867	CBL	HP:0000470	Short neck
867	CBL	HP:0000465	Webbed neck
867	CBL	HP:0001744	Splenomegaly
867	CBL	HP:0001743	Abnormality of the spleen
867	CBL	HP:0000520	Proptosis
867	CBL	HP:0001824	Weight loss
867	CBL	HP:0000508	Ptosis
867	CBL	HP:0001892	Abnormal bleeding
867	CBL	HP:0001873	Thrombocytopenia
867	CBL	HP:0001876	Pancytopenia
867	CBL	HP:0001875	Neutropenia
871	SERPINH1	HP:0001290	Generalized hypotonia
871	SERPINH1	HP:0010982	Polygenic inheritance
871	SERPINH1	HP:0003819	Death in childhood
871	SERPINH1	HP:0001388	Joint laxity
871	SERPINH1	HP:0000023	Inguinal hernia
871	SERPINH1	HP:0000007	Autosomal recessive inheritance
871	SERPINH1	HP:0002650	Scoliosis
871	SERPINH1	HP:0008905	Rhizomelia
871	SERPINH1	HP:0002761	Generalized joint laxity
871	SERPINH1	HP:0002753	Thin bony cortex
871	SERPINH1	HP:0002021	Pyloric stenosis
871	SERPINH1	HP:0011800	Midface retrusion
871	SERPINH1	HP:0002098	Respiratory distress
871	SERPINH1	HP:0010502	Fibular bowing
871	SERPINH1	HP:0004322	Short stature
871	SERPINH1	HP:0034197	Third trimester onset
871	SERPINH1	HP:0000703	Dentinogenesis imperfecta
871	SERPINH1	HP:0011462	Young adult onset
871	SERPINH1	HP:0000774	Narrow chest
871	SERPINH1	HP:0000787	Nephrolithiasis
871	SERPINH1	HP:0000926	Platyspondyly
871	SERPINH1	HP:0004482	Relative macrocephaly
871	SERPINH1	HP:0000883	Thin ribs
871	SERPINH1	HP:0000885	Broad ribs
871	SERPINH1	HP:0003097	Short femur
871	SERPINH1	HP:0000938	Osteopenia
871	SERPINH1	HP:0000272	Malar flattening
871	SERPINH1	HP:0002857	Genu valgum
871	SERPINH1	HP:0005257	Thoracic hypoplasia
871	SERPINH1	HP:0006528	Chronic lung disease
871	SERPINH1	HP:0006532	Recurrent pneumonia
871	SERPINH1	HP:0002943	Thoracic scoliosis
871	SERPINH1	HP:0006487	Bowing of the long bones
871	SERPINH1	HP:0000341	Narrow forehead
871	SERPINH1	HP:0000348	High forehead
871	SERPINH1	HP:0000347	Micrognathia
871	SERPINH1	HP:0002982	Tibial bowing
871	SERPINH1	HP:0002983	Micromelia
871	SERPINH1	HP:0000325	Triangular face
871	SERPINH1	HP:0002953	Vertebral compression fracture
871	SERPINH1	HP:0001620	High pitched voice
871	SERPINH1	HP:0032988	Persistent head lag
871	SERPINH1	HP:0006640	Multiple rib fractures
871	SERPINH1	HP:0001788	Premature rupture of membranes
871	SERPINH1	HP:0005474	Decreased calvarial ossification
871	SERPINH1	HP:0000592	Blue sclerae
871	SERPINH1	HP:0000586	Shallow orbits
871	SERPINH1	HP:0011220	Prominent forehead
875	CBS	HP:0001166	Arachnodactyly
875	CBS	HP:0001132	Lens subluxation
875	CBS	HP:0001297	Stroke
875	CBS	HP:0001250	Seizure
875	CBS	HP:0001249	Intellectual disability
875	CBS	HP:0001263	Global developmental delay
875	CBS	HP:0032352	Methioninuria
875	CBS	HP:0012075	Personality disorder
875	CBS	HP:0000098	Tall stature
875	CBS	HP:0001397	Hepatic steatosis
875	CBS	HP:0001376	Limitation of joint mobility
875	CBS	HP:0001387	Joint stiffness
875	CBS	HP:0000023	Inguinal hernia
875	CBS	HP:0000007	Autosomal recessive inheritance
875	CBS	HP:0002637	Cerebral ischemia
875	CBS	HP:0002650	Scoliosis
875	CBS	HP:0002757	Recurrent fractures
875	CBS	HP:0002751	Kyphoscoliosis
875	CBS	HP:0002040	Esophageal varix
875	CBS	HP:0002039	Anorexia
875	CBS	HP:0002156	Homocystinuria
875	CBS	HP:0002160	Hyperhomocystinemia
875	CBS	HP:0002170	Intracranial hemorrhage
875	CBS	HP:0002240	Hepatomegaly
875	CBS	HP:0002239	Gastrointestinal hemorrhage
875	CBS	HP:0002209	Sparse scalp hair
875	CBS	HP:0002204	Pulmonary embolism
875	CBS	HP:0100790	Hernia
875	CBS	HP:0002299	Brittle hair
875	CBS	HP:0001010	Hypopigmentation of the skin
875	CBS	HP:0001025	Urticaria
875	CBS	HP:0001083	Ectopia lentis
875	CBS	HP:0003623	Neonatal onset
875	CBS	HP:0004936	Venous thrombosis
875	CBS	HP:0000646	Amblyopia
875	CBS	HP:0000648	Optic atrophy
875	CBS	HP:0001933	Subcutaneous hemorrhage
875	CBS	HP:0001907	Thromboembolism
875	CBS	HP:0000678	Dental crowding
875	CBS	HP:0004374	Hemiplegia/hemiparesis
875	CBS	HP:0004337	Abnormality of amino acid metabolism
875	CBS	HP:0000767	Pectus excavatum
875	CBS	HP:0000768	Pectus carinatum
875	CBS	HP:0100026	Arteriovenous malformation
875	CBS	HP:0000716	Depression
875	CBS	HP:0000709	Psychosis
875	CBS	HP:0000708	Atypical behavior
875	CBS	HP:0011463	Childhood onset
875	CBS	HP:0004420	Arterial thrombosis
875	CBS	HP:0000822	Hypertension
875	CBS	HP:0003235	Hypermethioninemia
875	CBS	HP:0004586	Biconcave vertebral bodies
875	CBS	HP:0000965	Cutis marmorata
875	CBS	HP:0000939	Osteoporosis
875	CBS	HP:0040160	Generalized osteoporosis
875	CBS	HP:0007703	Abnormality of retinal pigmentation
875	CBS	HP:0002808	Kyphosis
875	CBS	HP:0000218	High palate
875	CBS	HP:0002857	Genu valgum
875	CBS	HP:0001508	Failure to thrive
875	CBS	HP:0001519	Disproportionate tall stature
875	CBS	HP:0002910	Elevated hepatic transaminase
875	CBS	HP:0001658	Myocardial infarction
875	CBS	HP:0001634	Mitral valve prolapse
875	CBS	HP:0001733	Pancreatitis
875	CBS	HP:0000518	Cataract
875	CBS	HP:0000505	Visual impairment
875	CBS	HP:0000501	Glaucoma
875	CBS	HP:0000541	Retinal detachment
875	CBS	HP:0000545	Myopia
889	KRIT1	HP:0033522	Cerebral cavernous malformation
889	KRIT1	HP:0001250	Seizure
889	KRIT1	HP:0002572	Episodic vomiting
889	KRIT1	HP:0002516	Increased intracranial pressure
889	KRIT1	HP:0002514	Cerebral calcification
889	KRIT1	HP:0003829	Typified by incomplete penetrance
889	KRIT1	HP:0001342	Cerebral hemorrhage
889	KRIT1	HP:0000006	Autosomal dominant inheritance
889	KRIT1	HP:0002650	Scoliosis
889	KRIT1	HP:0100543	Cognitive impairment
889	KRIT1	HP:0100561	Spinal cord lesion
889	KRIT1	HP:0002170	Intracranial hemorrhage
889	KRIT1	HP:0001028	Hemangioma
889	KRIT1	HP:0002315	Headache
889	KRIT1	HP:0003011	Abnormality of the musculature
889	KRIT1	HP:0012749	Focal T2 hypointense brainstem lesion
889	KRIT1	HP:0012748	Focal T2 hyperintense brainstem lesion
889	KRIT1	HP:0012721	Venous malformation
889	KRIT1	HP:0011513	Retinal cavernous angioma
889	KRIT1	HP:0000951	Abnormality of the skin
889	KRIT1	HP:0007797	Retinal vascular malformation
889	KRIT1	HP:0002858	Meningioma
889	KRIT1	HP:0006576	Hepatic vascular malformations
889	KRIT1	HP:0007872	Choroidal hemangioma
889	KRIT1	HP:0030430	Neuroma
889	KRIT1	HP:0011276	Vascular skin abnormality
894	CCND2	HP:0001162	Postaxial hand polydactyly
894	CCND2	HP:0001159	Syndactyly
894	CCND2	HP:0010864	Intellectual disability, severe
894	CCND2	HP:0001250	Seizure
894	CCND2	HP:0001263	Global developmental delay
894	CCND2	HP:0001355	Megalencephaly
894	CCND2	HP:0001344	Absent speech
894	CCND2	HP:0000006	Autosomal dominant inheritance
894	CCND2	HP:0000160	Narrow mouth
894	CCND2	HP:0100542	Abnormal localization of kidney
894	CCND2	HP:0002119	Ventriculomegaly
894	CCND2	HP:0002126	Polymicrogyria
894	CCND2	HP:0003577	Congenital onset
894	CCND2	HP:0007074	Thick corpus callosum
894	CCND2	HP:0000256	Macrocephaly
894	CCND2	HP:0005105	Abnormal nasal morphology
894	CCND2	HP:0000238	Hydrocephalus
894	CCND2	HP:0001671	Abnormal cardiac septum morphology
894	CCND2	HP:0000348	High forehead
894	CCND2	HP:0000316	Hypertelorism
894	CCND2	HP:0001653	Mitral regurgitation
894	CCND2	HP:0001629	Ventricular septal defect
894	CCND2	HP:0005280	Depressed nasal bridge
894	CCND2	HP:0000506	Telecanthus
894	CCND2	HP:0011220	Prominent forehead
899	CCNF	HP:0001260	Dysarthria
899	CCNF	HP:0001257	Spasticity
899	CCNF	HP:0007373	Motor neuron atrophy
899	CCNF	HP:0007354	Amyotrophic lateral sclerosis
899	CCNF	HP:0001324	Muscle weakness
899	CCNF	HP:0000006	Autosomal dominant inheritance
899	CCNF	HP:0025425	Laryngospasm
899	CCNF	HP:0002795	Abnormal respiratory system physiology
899	CCNF	HP:0002017	Nausea and vomiting
899	CCNF	HP:0003324	Generalized muscle weakness
899	CCNF	HP:0002094	Dyspnea
899	CCNF	HP:0003394	Muscle spasm
899	CCNF	HP:0002145	Frontotemporal dementia
899	CCNF	HP:0003470	Paralysis
899	CCNF	HP:0002180	Neurodegeneration
899	CCNF	HP:0010546	Muscle fibrillation
899	CCNF	HP:0003596	Middle age onset
899	CCNF	HP:0003584	Late onset
899	CCNF	HP:0002380	Fasciculations
899	CCNF	HP:0003690	Limb muscle weakness
899	CCNF	HP:0000739	Anxiety
899	CCNF	HP:0000716	Depression
899	CCNF	HP:0000712	Emotional lability
899	CCNF	HP:0000713	Agitation
899	CCNF	HP:0003202	Skeletal muscle atrophy
899	CCNF	HP:0000217	Xerostomia
899	CCNF	HP:0002878	Respiratory failure
899	CCNF	HP:0012378	Fatigue
899	CCNF	HP:0030196	Fatigable weakness of respiratory muscles
899	CCNF	HP:0030195	Fatigable weakness of swallowing muscles
899	CCNF	HP:0030192	Fatigable weakness of bulbar muscles
899	CCNF	HP:0012531	Pain
915	CD3D	HP:0008866	Failure to thrive secondary to recurrent infections
915	CD3D	HP:0000007	Autosomal recessive inheritance
915	CD3D	HP:0012176	Abnormal natural killer cell morphology
915	CD3D	HP:0012115	Hepatitis
915	CD3D	HP:0001433	Hepatosplenomegaly
915	CD3D	HP:0002719	Recurrent infections
915	CD3D	HP:0002722	Recurrent abscess formation
915	CD3D	HP:0002028	Chronic diarrhea
915	CD3D	HP:0002014	Diarrhea
915	CD3D	HP:0002090	Pneumonia
915	CD3D	HP:0002039	Anorexia
915	CD3D	HP:0003460	Decreased circulating total IgA
915	CD3D	HP:0003593	Infantile onset
915	CD3D	HP:0002205	Recurrent respiratory infections
915	CD3D	HP:0010702	Increased circulating antibody level
915	CD3D	HP:0001019	Erythroderma
915	CD3D	HP:0009098	Chronic oral candidiasis
915	CD3D	HP:0001945	Fever
915	CD3D	HP:0004315	Decreased circulating IgG level
915	CD3D	HP:0004385	Protracted diarrhea
915	CD3D	HP:0004430	Severe combined immunodeficiency
915	CD3D	HP:0045080	Decreased proportion of CD3-positive T cells
915	CD3D	HP:0001508	Failure to thrive
915	CD3D	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
915	CD3D	HP:0002846	Abnormal B cell morphology
915	CD3D	HP:0000388	Otitis media
915	CD3D	HP:0006532	Recurrent pneumonia
915	CD3D	HP:0005353	Recurrent herpes
915	CD3D	HP:0000403	Recurrent otitis media
915	CD3D	HP:0005403	T lymphocytopenia
915	CD3D	HP:0005401	Recurrent candida infections
915	CD3D	HP:0031691	Severe viral infection
915	CD3D	HP:0001888	Lymphopenia
915	CD3D	HP:0001880	Eosinophilia
916	CD3E	HP:0003828	Variable expressivity
916	CD3E	HP:0008866	Failure to thrive secondary to recurrent infections
916	CD3E	HP:0000007	Autosomal recessive inheritance
916	CD3E	HP:0031123	Recurrent gastroenteritis
916	CD3E	HP:0012176	Abnormal natural killer cell morphology
916	CD3E	HP:0012115	Hepatitis
916	CD3E	HP:0001433	Hepatosplenomegaly
916	CD3E	HP:0002719	Recurrent infections
916	CD3E	HP:0002722	Recurrent abscess formation
916	CD3E	HP:0002721	Immunodeficiency
916	CD3E	HP:0002014	Diarrhea
916	CD3E	HP:0002090	Pneumonia
916	CD3E	HP:0002039	Anorexia
916	CD3E	HP:0003460	Decreased circulating total IgA
916	CD3E	HP:0003593	Infantile onset
916	CD3E	HP:0002205	Recurrent respiratory infections
916	CD3E	HP:0010702	Increased circulating antibody level
916	CD3E	HP:0001019	Erythroderma
916	CD3E	HP:0009098	Chronic oral candidiasis
916	CD3E	HP:0001945	Fever
916	CD3E	HP:0004315	Decreased circulating IgG level
916	CD3E	HP:0004385	Protracted diarrhea
916	CD3E	HP:0045080	Decreased proportion of CD3-positive T cells
916	CD3E	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
916	CD3E	HP:0002846	Abnormal B cell morphology
916	CD3E	HP:0000388	Otitis media
916	CD3E	HP:0006532	Recurrent pneumonia
916	CD3E	HP:0005353	Recurrent herpes
916	CD3E	HP:0000403	Recurrent otitis media
916	CD3E	HP:0030253	Defective T cell proliferation
916	CD3E	HP:0005401	Recurrent candida infections
916	CD3E	HP:0001888	Lymphopenia
916	CD3E	HP:0001880	Eosinophilia
917	CD3G	HP:0003819	Death in childhood
917	CD3G	HP:0000007	Autosomal recessive inheritance
917	CD3G	HP:0031123	Recurrent gastroenteritis
917	CD3G	HP:0002721	Immunodeficiency
917	CD3G	HP:0002028	Chronic diarrhea
917	CD3G	HP:0003593	Infantile onset
917	CD3G	HP:0002242	Abnormal intestine morphology
917	CD3G	HP:0002205	Recurrent respiratory infections
917	CD3G	HP:0009098	Chronic oral candidiasis
917	CD3G	HP:0000964	Eczema
917	CD3G	HP:0001522	Death in infancy
917	CD3G	HP:0001508	Failure to thrive
917	CD3G	HP:0002846	Abnormal B cell morphology
917	CD3G	HP:0005218	Anoperineal fistula
917	CD3G	HP:0000403	Recurrent otitis media
917	CD3G	HP:0005415	Decreased proportion of CD8-positive T cells
917	CD3G	HP:0005403	T lymphocytopenia
917	CD3G	HP:0001890	Autoimmune hemolytic anemia
917	CD3G	HP:0041063	Chronic decreased cirulating IgG2
919	CD247	HP:0001155	Abnormality of the hand
919	CD247	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine
919	CD247	HP:0001371	Flexion contracture
919	CD247	HP:0001370	Rheumatoid arthritis
919	CD247	HP:0001369	Arthritis
919	CD247	HP:0001386	Joint swelling
919	CD247	HP:0001387	Joint stiffness
919	CD247	HP:0001382	Joint hypermobility
919	CD247	HP:0001384	Abnormal hip joint morphology
919	CD247	HP:0008866	Failure to thrive secondary to recurrent infections
919	CD247	HP:0008850	Severe postnatal growth retardation
919	CD247	HP:0008843	Hip osteoarthritis
919	CD247	HP:0000007	Autosomal recessive inheritance
919	CD247	HP:0012115	Hepatitis
919	CD247	HP:0007663	Reduced visual acuity
919	CD247	HP:0001433	Hepatosplenomegaly
919	CD247	HP:0002719	Recurrent infections
919	CD247	HP:0002716	Lymphadenopathy
919	CD247	HP:0002722	Recurrent abscess formation
919	CD247	HP:0002721	Immunodeficiency
919	CD247	HP:0040313	Oligoarthritis
919	CD247	HP:0003326	Myalgia
919	CD247	HP:0002014	Diarrhea
919	CD247	HP:0003319	Abnormality of the cervical spine
919	CD247	HP:0002090	Pneumonia
919	CD247	HP:0002039	Anorexia
919	CD247	HP:0003460	Decreased circulating total IgA
919	CD247	HP:0011911	Abnormal metacarpophalangeal joint morphology
919	CD247	HP:0003496	Increased circulating IgM level
919	CD247	HP:0003493	Antinuclear antibody positivity
919	CD247	HP:0003593	Infantile onset
919	CD247	HP:0003565	Elevated erythrocyte sedimentation rate
919	CD247	HP:0100769	Synovitis
919	CD247	HP:0010702	Increased circulating antibody level
919	CD247	HP:0008348	Decreased circulating IgG2 level
919	CD247	HP:0001019	Erythroderma
919	CD247	HP:0001094	Iridocyclitis
919	CD247	HP:0100686	Enthesitis
919	CD247	HP:0010754	Abnormality of the temporomandibular joint
919	CD247	HP:0009098	Chronic oral candidiasis
919	CD247	HP:0001945	Fever
919	CD247	HP:0001903	Anemia
919	CD247	HP:0004315	Decreased circulating IgG level
919	CD247	HP:0004385	Protracted diarrhea
919	CD247	HP:0003028	Abnormality of the ankle
919	CD247	HP:0003043	Abnormal shoulder morphology
919	CD247	HP:0003019	Abnormality of the wrist
919	CD247	HP:0030782	Abnormal circulating interleukin concentration
919	CD247	HP:0003237	Increased circulating IgG level
919	CD247	HP:0003212	Increased circulating IgE level
919	CD247	HP:0045080	Decreased proportion of CD3-positive T cells
919	CD247	HP:0003262	Smooth muscle antibody positivity
919	CD247	HP:0003261	Increased circulating IgA level
919	CD247	HP:0002829	Arthralgia
919	CD247	HP:0005086	Knee osteoarthritis
919	CD247	HP:0001530	Mild postnatal growth retardation
919	CD247	HP:0001508	Failure to thrive
919	CD247	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
919	CD247	HP:0007833	Anterior chamber synechiae
919	CD247	HP:0000388	Otitis media
919	CD247	HP:0006532	Recurrent pneumonia
919	CD247	HP:0005186	Synovial hypertrophy
919	CD247	HP:0002960	Autoimmunity
919	CD247	HP:0030167	Antimitochondrial antibody positivity
919	CD247	HP:0005353	Recurrent herpes
919	CD247	HP:0011134	Low-grade fever
919	CD247	HP:0001785	Ankle swelling
919	CD247	HP:0005403	T lymphocytopenia
919	CD247	HP:0005401	Recurrent candida infections
919	CD247	HP:0000518	Cataract
919	CD247	HP:0001824	Weight loss
919	CD247	HP:0001832	Abnormal metatarsal morphology
919	CD247	HP:0000501	Glaucoma
919	CD247	HP:0000585	Band keratopathy
919	CD247	HP:0030356	Increased circulating interferon-gamma concentration
919	CD247	HP:0001890	Autoimmune hemolytic anemia
919	CD247	HP:0001888	Lymphopenia
919	CD247	HP:0000554	Uveitis
919	CD247	HP:0000572	Visual loss
919	CD247	HP:0001880	Eosinophilia
920	CD4	HP:0032215	Disseminated cutaneous warts
920	CD4	HP:0032218	Decreased proportion of CD4-positive T cells
920	CD4	HP:0000007	Autosomal recessive inheritance
920	CD4	HP:0002788	Recurrent upper respiratory tract infections
920	CD4	HP:0003621	Juvenile onset
920	CD4	HP:0033004	Palmar warts
920	CD4	HP:0033005	Plantar warts
920	CD4	HP:0002843	Abnormal T cell morphology
920	CD4	HP:0000403	Recurrent otitis media
925	CD8A	HP:0000007	Autosomal recessive inheritance
925	CD8A	HP:0002718	Recurrent bacterial infections
925	CD8A	HP:0002110	Bronchiectasis
925	CD8A	HP:0003577	Congenital onset
925	CD8A	HP:0002205	Recurrent respiratory infections
925	CD8A	HP:0004429	Recurrent viral infections
925	CD8A	HP:0005422	Absence of CD8-positive T cells
930	CD19	HP:0001287	Meningitis
930	CD19	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine
930	CD19	HP:0010975	Abnormal B cell count
930	CD19	HP:0001392	Abnormality of the liver
930	CD19	HP:0002664	Neoplasm
930	CD19	HP:0000007	Autosomal recessive inheritance
930	CD19	HP:0002665	Lymphoma
930	CD19	HP:0000006	Autosomal dominant inheritance
930	CD19	HP:0002633	Vasculitis
930	CD19	HP:0002718	Recurrent bacterial infections
930	CD19	HP:0002716	Lymphadenopathy
930	CD19	HP:0002729	Follicular hyperplasia
930	CD19	HP:0002720	Decreased circulating IgA level
930	CD19	HP:0002721	Immunodeficiency
930	CD19	HP:0002023	Anal atresia
930	CD19	HP:0002014	Diarrhea
930	CD19	HP:0002097	Emphysema
930	CD19	HP:0002090	Pneumonia
930	CD19	HP:0002091	Restrictive ventilatory defect
930	CD19	HP:0002110	Bronchiectasis
930	CD19	HP:0011839	Abnormal T cell count
930	CD19	HP:0003593	Infantile onset
930	CD19	HP:0002240	Hepatomegaly
930	CD19	HP:0002205	Recurrent respiratory infections
930	CD19	HP:0100723	Gastrointestinal stroma tumor
930	CD19	HP:0032134	Chronic decreased circulating total IgG
930	CD19	HP:0032139	Reduced isohemagglutinin level
930	CD19	HP:0003621	Juvenile onset
930	CD19	HP:0001973	Autoimmune thrombocytopenia
930	CD19	HP:0004315	Decreased circulating IgG level
930	CD19	HP:0004313	Decreased circulating antibody level
930	CD19	HP:0011463	Childhood onset
930	CD19	HP:0000979	Purpura
930	CD19	HP:0002829	Arthralgia
930	CD19	HP:0000248	Brachycephaly
930	CD19	HP:0001531	Failure to thrive in infancy
930	CD19	HP:0002837	Recurrent bronchitis
930	CD19	HP:0002850	Decreased circulating total IgM
930	CD19	HP:0000389	Chronic otitis media
930	CD19	HP:0000388	Otitis media
930	CD19	HP:0006532	Recurrent pneumonia
930	CD19	HP:0002910	Elevated hepatic transaminase
930	CD19	HP:0002960	Autoimmunity
930	CD19	HP:0005387	Combined immunodeficiency
930	CD19	HP:0000403	Recurrent otitis media
930	CD19	HP:0011108	Recurrent sinusitis
930	CD19	HP:0001744	Splenomegaly
930	CD19	HP:0006783	Posterior pharyngeal cleft
930	CD19	HP:0005435	Impaired T cell function
930	CD19	HP:0000509	Conjunctivitis
930	CD19	HP:0001888	Lymphopenia
930	CD19	HP:0030388	Decreased proportion of class-switched memory B cells
930	CD19	HP:0001878	Hemolytic anemia
931	MS4A1	HP:0010975	Abnormal B cell count
931	MS4A1	HP:0001392	Abnormality of the liver
931	MS4A1	HP:0000007	Autosomal recessive inheritance
931	MS4A1	HP:0002665	Lymphoma
931	MS4A1	HP:0002633	Vasculitis
931	MS4A1	HP:0002718	Recurrent bacterial infections
931	MS4A1	HP:0002716	Lymphadenopathy
931	MS4A1	HP:0002721	Immunodeficiency
931	MS4A1	HP:0002023	Anal atresia
931	MS4A1	HP:0002097	Emphysema
931	MS4A1	HP:0002090	Pneumonia
931	MS4A1	HP:0002091	Restrictive ventilatory defect
931	MS4A1	HP:0002110	Bronchiectasis
931	MS4A1	HP:0003493	Antinuclear antibody positivity
931	MS4A1	HP:0011839	Abnormal T cell count
931	MS4A1	HP:0002205	Recurrent respiratory infections
931	MS4A1	HP:0100723	Gastrointestinal stroma tumor
931	MS4A1	HP:0032134	Chronic decreased circulating total IgG
931	MS4A1	HP:0001973	Autoimmune thrombocytopenia
931	MS4A1	HP:0004313	Decreased circulating antibody level
931	MS4A1	HP:0011463	Childhood onset
931	MS4A1	HP:0000979	Purpura
931	MS4A1	HP:0002829	Arthralgia
931	MS4A1	HP:0000248	Brachycephaly
931	MS4A1	HP:0001531	Failure to thrive in infancy
931	MS4A1	HP:0002837	Recurrent bronchitis
931	MS4A1	HP:0000389	Chronic otitis media
931	MS4A1	HP:0000388	Otitis media
931	MS4A1	HP:0002910	Elevated hepatic transaminase
931	MS4A1	HP:0005387	Combined immunodeficiency
931	MS4A1	HP:0001744	Splenomegaly
931	MS4A1	HP:0006783	Posterior pharyngeal cleft
931	MS4A1	HP:0001888	Lymphopenia
931	MS4A1	HP:0001878	Hemolytic anemia
939	CD27	HP:0033509	EBV encephalitis
939	CD27	HP:0033508	EBV meningitis
939	CD27	HP:0100806	Sepsis
939	CD27	HP:0000007	Autosomal recessive inheritance
939	CD27	HP:0002665	Lymphoma
939	CD27	HP:0012189	Hodgkin lymphoma
939	CD27	HP:0012156	Hemophagocytosis
939	CD27	HP:0000155	Oral ulcer
939	CD27	HP:0001433	Hepatosplenomegaly
939	CD27	HP:0002719	Recurrent infections
939	CD27	HP:0002716	Lymphadenopathy
939	CD27	HP:0002240	Hepatomegaly
939	CD27	HP:0020072	Persistent EBV viremia
939	CD27	HP:0032170	Severe varicella zoster infection
939	CD27	HP:0005523	Lymphoproliferative disorder
939	CD27	HP:0001945	Fever
939	CD27	HP:0001915	Aplastic anemia
939	CD27	HP:0004313	Decreased circulating antibody level
939	CD27	HP:0001541	Ascites
939	CD27	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
939	CD27	HP:0006532	Recurrent pneumonia
939	CD27	HP:0001744	Splenomegaly
939	CD27	HP:0000554	Uveitis
939	CD27	HP:0001876	Pancytopenia
940	CD28	HP:0007400	Irregular hyperpigmentation
940	CD28	HP:0002665	Lymphoma
940	CD28	HP:0001337	Tremor
940	CD28	HP:0012192	Cutaneous T-cell lymphoma
940	CD28	HP:0002716	Lymphadenopathy
940	CD28	HP:0002721	Immunodeficiency
940	CD28	HP:0002103	Abnormal pleura morphology
940	CD28	HP:0002240	Hepatomegaly
940	CD28	HP:0008404	Nail dystrophy
940	CD28	HP:0010701	Abnormal immunoglobulin level
940	CD28	HP:0100725	Lichenification
940	CD28	HP:0100758	Gangrene
940	CD28	HP:0001053	Hypopigmented skin patches
940	CD28	HP:0001029	Poikiloderma
940	CD28	HP:0001019	Erythroderma
940	CD28	HP:0200035	Skin plaque
940	CD28	HP:0009830	Peripheral neuropathy
940	CD28	HP:0200042	Skin ulcer
940	CD28	HP:0010783	Erythema
940	CD28	HP:0005561	Abnormality of bone marrow cell morphology
940	CD28	HP:0000656	Ectropion
940	CD28	HP:0001999	Abnormal facial shape
940	CD28	HP:0004332	Abnormal lymphocyte morphology
940	CD28	HP:0003202	Skeletal muscle atrophy
940	CD28	HP:0000989	Pruritus
940	CD28	HP:0000988	Skin rash
940	CD28	HP:0000982	Palmoplantar keratoderma
940	CD28	HP:0000958	Dry skin
940	CD28	HP:0000969	Edema
940	CD28	HP:0000964	Eczema
940	CD28	HP:0000962	Hyperkeratosis
940	CD28	HP:0008069	Neoplasm of the skin
940	CD28	HP:0001597	Abnormality of the nail
940	CD28	HP:0001596	Alopecia
940	CD28	HP:0000271	Abnormality of the face
940	CD28	HP:0000492	Abnormal eyelid morphology
940	CD28	HP:0001744	Splenomegaly
948	CD36	HP:0000007	Autosomal recessive inheritance
948	CD36	HP:0001902	Giant platelets
948	CD36	HP:0003010	Prolonged bleeding time
948	CD36	HP:0001892	Abnormal bleeding
948	CD36	HP:0001873	Thrombocytopenia
950	SCARB2	HP:0010885	Avascular necrosis
950	SCARB2	HP:0001272	Cerebellar atrophy
950	SCARB2	HP:0100820	Glomerulopathy
950	SCARB2	HP:0001268	Mental deterioration
950	SCARB2	HP:0001251	Ataxia
950	SCARB2	HP:0001249	Intellectual disability
950	SCARB2	HP:0001260	Dysarthria
950	SCARB2	HP:0000083	Renal insufficiency
950	SCARB2	HP:0000097	Focal segmental glomerulosclerosis
950	SCARB2	HP:0000093	Proteinuria
950	SCARB2	HP:0001394	Cirrhosis
950	SCARB2	HP:0012050	Anasarca
950	SCARB2	HP:0000007	Autosomal recessive inheritance
950	SCARB2	HP:0001336	Myoclonus
950	SCARB2	HP:0002653	Bone pain
950	SCARB2	HP:0002797	Osteolysis
950	SCARB2	HP:0000100	Nephrotic syndrome
950	SCARB2	HP:0002758	Osteoarthritis
950	SCARB2	HP:0002756	Pathologic fracture
950	SCARB2	HP:0000112	Nephropathy
950	SCARB2	HP:0002750	Delayed skeletal maturation
950	SCARB2	HP:0002027	Abdominal pain
950	SCARB2	HP:0002015	Dysphagia
950	SCARB2	HP:0002080	Intention tremor
950	SCARB2	HP:0002092	Pulmonary arterial hypertension
950	SCARB2	HP:0002066	Gait ataxia
950	SCARB2	HP:0002070	Limb ataxia
950	SCARB2	HP:0002039	Anorexia
950	SCARB2	HP:0002197	Generalized-onset seizure
950	SCARB2	HP:0002174	Postural tremor
950	SCARB2	HP:0002240	Hepatomegaly
950	SCARB2	HP:0002202	Pleural effusion
950	SCARB2	HP:0010702	Increased circulating antibody level
950	SCARB2	HP:0007000	Morning myoclonic jerks
950	SCARB2	HP:0002392	EEG with polyspike wave complexes
950	SCARB2	HP:0002345	Action tremor
950	SCARB2	HP:0003678	Rapidly progressive
950	SCARB2	HP:0002317	Unsteady gait
950	SCARB2	HP:0010741	Pedal edema
950	SCARB2	HP:0003621	Juvenile onset
950	SCARB2	HP:0001971	Hypersplenism
950	SCARB2	HP:0001903	Anemia
950	SCARB2	HP:0003073	Hypoalbuminemia
950	SCARB2	HP:0000726	Dementia
950	SCARB2	HP:0000790	Hematuria
950	SCARB2	HP:0000823	Delayed puberty
950	SCARB2	HP:0000978	Bruising susceptibility
950	SCARB2	HP:0000992	Cutaneous photosensitivity
950	SCARB2	HP:0000969	Edema
950	SCARB2	HP:0000938	Osteopenia
950	SCARB2	HP:0002808	Kyphosis
950	SCARB2	HP:0000225	Gingival bleeding
950	SCARB2	HP:0001541	Ascites
950	SCARB2	HP:0001510	Growth delay
950	SCARB2	HP:0005230	Biliary tract obstruction
950	SCARB2	HP:0006530	Abnormal pulmonary interstitial morphology
950	SCARB2	HP:0001698	Pericardial effusion
950	SCARB2	HP:0011001	Increased bone mineral density
950	SCARB2	HP:0002953	Vertebral compression fracture
950	SCARB2	HP:0001637	Abnormal myocardium morphology
950	SCARB2	HP:0001744	Splenomegaly
950	SCARB2	HP:0025708	Early young adult onset
950	SCARB2	HP:0001895	Normochromic anemia
950	SCARB2	HP:0001882	Leukopenia
950	SCARB2	HP:0001873	Thrombocytopenia
950	SCARB2	HP:0001876	Pancytopenia
953	ENTPD1	HP:0001288	Gait disturbance
953	ENTPD1	HP:0001284	Areflexia
953	ENTPD1	HP:0001249	Intellectual disability
953	ENTPD1	HP:0001260	Dysarthria
953	ENTPD1	HP:0001258	Spastic paraplegia
953	ENTPD1	HP:0001257	Spasticity
953	ENTPD1	HP:0002500	Abnormal cerebral white matter morphology
953	ENTPD1	HP:0000007	Autosomal recessive inheritance
953	ENTPD1	HP:0002342	Intellectual disability, moderate
953	ENTPD1	HP:0006889	Intellectual disability, borderline
953	ENTPD1	HP:0000718	Aggressive behavior
953	ENTPD1	HP:0000823	Delayed puberty
953	ENTPD1	HP:0003202	Skeletal muscle atrophy
953	ENTPD1	HP:0000252	Microcephaly
953	ENTPD1	HP:0001762	Talipes equinovarus
953	ENTPD1	HP:0000519	Developmental cataract
958	CD40	HP:0000007	Autosomal recessive inheritance
958	CD40	HP:0002718	Recurrent bacterial infections
958	CD40	HP:0002720	Decreased circulating IgA level
958	CD40	HP:0002721	Immunodeficiency
958	CD40	HP:0003496	Increased circulating IgM level
958	CD40	HP:0004315	Decreased circulating IgG level
958	CD40	HP:0002849	Absence of lymph node germinal center
958	CD40	HP:0002847	Impaired memory B cell generation
958	CD40	HP:0002959	Impaired Ig class switch recombination
958	CD40	HP:0005479	Decreased circulating IgE
958	CD40	HP:0001875	Neutropenia
959	CD40LG	HP:0410243	Abnormal circulating IgM level
959	CD40LG	HP:0100806	Sepsis
959	CD40LG	HP:0001287	Meningitis
959	CD40LG	HP:0001263	Global developmental delay
959	CD40LG	HP:0001394	Cirrhosis
959	CD40LG	HP:0001347	Hyperreflexia
959	CD40LG	HP:0000155	Oral ulcer
959	CD40LG	HP:0012115	Hepatitis
959	CD40LG	HP:0002783	Recurrent lower respiratory tract infections
959	CD40LG	HP:0001419	X-linked recessive inheritance
959	CD40LG	HP:0002718	Recurrent bacterial infections
959	CD40LG	HP:0002720	Decreased circulating IgA level
959	CD40LG	HP:0002721	Immunodeficiency
959	CD40LG	HP:0030991	Sclerosing cholangitis
959	CD40LG	HP:0002014	Diarrhea
959	CD40LG	HP:0003496	Increased circulating IgM level
959	CD40LG	HP:0003593	Infantile onset
959	CD40LG	HP:0002240	Hepatomegaly
959	CD40LG	HP:0200123	Chronic hepatitis
959	CD40LG	HP:0002376	Developmental regression
959	CD40LG	HP:0009098	Chronic oral candidiasis
959	CD40LG	HP:0004315	Decreased circulating IgG level
959	CD40LG	HP:0011448	Ankle clonus
959	CD40LG	HP:0034285	Enteroviral encephalitis
959	CD40LG	HP:0034286	Pneumocystis carinii pneumonia
959	CD40LG	HP:0010280	Stomatitis
959	CD40LG	HP:0030812	Enlarged tonsils
959	CD40LG	HP:0003261	Increased circulating IgA level
959	CD40LG	HP:0000230	Gingivitis
959	CD40LG	HP:0001508	Failure to thrive
959	CD40LG	HP:0002849	Absence of lymph node germinal center
959	CD40LG	HP:0002847	Impaired memory B cell generation
959	CD40LG	HP:0002961	Dysgammaglobulinemia
959	CD40LG	HP:0002959	Impaired Ig class switch recombination
959	CD40LG	HP:0012418	Hypoxemia
959	CD40LG	HP:0001744	Splenomegaly
959	CD40LG	HP:0005419	Decreased T cell activation
959	CD40LG	HP:0005479	Decreased circulating IgE
959	CD40LG	HP:0001878	Hemolytic anemia
959	CD40LG	HP:0001873	Thrombocytopenia
959	CD40LG	HP:0001875	Neutropenia
966	CD59	HP:0001290	Generalized hypotonia
966	CD59	HP:0001271	Polyneuropathy
966	CD59	HP:0001284	Areflexia
966	CD59	HP:0001252	Hypotonia
966	CD59	HP:0000007	Autosomal recessive inheritance
966	CD59	HP:0003470	Paralysis
966	CD59	HP:0003593	Infantile onset
966	CD59	HP:0004818	Paroxysmal nocturnal hemoglobinuria
966	CD59	HP:0003690	Limb muscle weakness
966	CD59	HP:0003202	Skeletal muscle atrophy
966	CD59	HP:0002922	Increased CSF protein concentration
966	CD59	HP:0001878	Hemolytic anemia
970	CD70	HP:0410297	Partial absence of specific antibody response to tetanus vaccine
970	CD70	HP:0000007	Autosomal recessive inheritance
970	CD70	HP:0012189	Hodgkin lymphoma
970	CD70	HP:0001433	Hepatosplenomegaly
970	CD70	HP:0002719	Recurrent infections
970	CD70	HP:0002716	Lymphadenopathy
970	CD70	HP:0032170	Severe varicella zoster infection
970	CD70	HP:0005523	Lymphoproliferative disorder
970	CD70	HP:0001954	Recurrent fever
970	CD70	HP:0004313	Decreased circulating antibody level
970	CD70	HP:0040218	Reduced natural killer cell count
973	CD79A	HP:0008572	External ear malformation
973	CD79A	HP:0100806	Sepsis
973	CD79A	HP:0001287	Meningitis
973	CD79A	HP:0410293	Absent isohemagglutinin level
973	CD79A	HP:0001369	Arthritis
973	CD79A	HP:0000007	Autosomal recessive inheritance
973	CD79A	HP:0012115	Hepatitis
973	CD79A	HP:0002783	Recurrent lower respiratory tract infections
973	CD79A	HP:0002754	Osteomyelitis
973	CD79A	HP:0002719	Recurrent infections
973	CD79A	HP:0002718	Recurrent bacterial infections
973	CD79A	HP:0002721	Immunodeficiency
973	CD79A	HP:0002024	Malabsorption
973	CD79A	HP:0002014	Diarrhea
973	CD79A	HP:0002110	Bronchiectasis
973	CD79A	HP:0003593	Infantile onset
973	CD79A	HP:0002205	Recurrent respiratory infections
973	CD79A	HP:0100658	Cellulitis
973	CD79A	HP:0200043	Verrucae
973	CD79A	HP:0003623	Neonatal onset
973	CD79A	HP:0001944	Dehydration
973	CD79A	HP:0001945	Fever
973	CD79A	HP:0012735	Cough
973	CD79A	HP:0004432	Agammaglobulinemia
973	CD79A	HP:0000988	Skin rash
973	CD79A	HP:0000286	Epicanthus
973	CD79A	HP:0001581	Recurrent skin infections
973	CD79A	HP:0000246	Sinusitis
973	CD79A	HP:0000218	High palate
973	CD79A	HP:0001508	Failure to thrive
973	CD79A	HP:0002837	Recurrent bronchitis
973	CD79A	HP:0002843	Abnormal T cell morphology
973	CD79A	HP:0012378	Fatigue
973	CD79A	HP:0000389	Chronic otitis media
973	CD79A	HP:0000316	Hypertelorism
973	CD79A	HP:0000403	Recurrent otitis media
973	CD79A	HP:0030252	Absent circulating B cells
973	CD79A	HP:0000509	Conjunctivitis
973	CD79A	HP:0001875	Neutropenia
974	CD79B	HP:0008572	External ear malformation
974	CD79B	HP:0100806	Sepsis
974	CD79B	HP:0001287	Meningitis
974	CD79B	HP:0010976	B lymphocytopenia
974	CD79B	HP:0001369	Arthritis
974	CD79B	HP:0000007	Autosomal recessive inheritance
974	CD79B	HP:0012115	Hepatitis
974	CD79B	HP:0002754	Osteomyelitis
974	CD79B	HP:0002719	Recurrent infections
974	CD79B	HP:0002718	Recurrent bacterial infections
974	CD79B	HP:0002720	Decreased circulating IgA level
974	CD79B	HP:0002721	Immunodeficiency
974	CD79B	HP:0002024	Malabsorption
974	CD79B	HP:0002014	Diarrhea
974	CD79B	HP:0002110	Bronchiectasis
974	CD79B	HP:0003593	Infantile onset
974	CD79B	HP:0002205	Recurrent respiratory infections
974	CD79B	HP:0100658	Cellulitis
974	CD79B	HP:0200043	Verrucae
974	CD79B	HP:0001944	Dehydration
974	CD79B	HP:0001945	Fever
974	CD79B	HP:0004315	Decreased circulating IgG level
974	CD79B	HP:0012735	Cough
974	CD79B	HP:0004432	Agammaglobulinemia
974	CD79B	HP:0000988	Skin rash
974	CD79B	HP:0000286	Epicanthus
974	CD79B	HP:0001581	Recurrent skin infections
974	CD79B	HP:0000246	Sinusitis
974	CD79B	HP:0000218	High palate
974	CD79B	HP:0001508	Failure to thrive
974	CD79B	HP:0002837	Recurrent bronchitis
974	CD79B	HP:0002850	Decreased circulating total IgM
974	CD79B	HP:0002843	Abnormal T cell morphology
974	CD79B	HP:0012378	Fatigue
974	CD79B	HP:0000389	Chronic otitis media
974	CD79B	HP:0006532	Recurrent pneumonia
974	CD79B	HP:0000316	Hypertelorism
974	CD79B	HP:0000403	Recurrent otitis media
974	CD79B	HP:0011109	Chronic sinusitis
974	CD79B	HP:0000509	Conjunctivitis
974	CD79B	HP:0001875	Neutropenia
975	CD81	HP:0003774	Stage 5 chronic kidney disease
975	CD81	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine
975	CD81	HP:0010975	Abnormal B cell count
975	CD81	HP:0000099	Glomerulonephritis
975	CD81	HP:0001392	Abnormality of the liver
975	CD81	HP:0000007	Autosomal recessive inheritance
975	CD81	HP:0002665	Lymphoma
975	CD81	HP:0002633	Vasculitis
975	CD81	HP:0000126	Hydronephrosis
975	CD81	HP:0000105	Enlarged kidney
975	CD81	HP:0002718	Recurrent bacterial infections
975	CD81	HP:0002716	Lymphadenopathy
975	CD81	HP:0002721	Immunodeficiency
975	CD81	HP:0002023	Anal atresia
975	CD81	HP:0002097	Emphysema
975	CD81	HP:0002090	Pneumonia
975	CD81	HP:0002091	Restrictive ventilatory defect
975	CD81	HP:0002110	Bronchiectasis
975	CD81	HP:0033295	Mesangial Immune complex deposition
975	CD81	HP:0011839	Abnormal T cell count
975	CD81	HP:0002240	Hepatomegaly
975	CD81	HP:0002205	Recurrent respiratory infections
975	CD81	HP:0100723	Gastrointestinal stroma tumor
975	CD81	HP:0032134	Chronic decreased circulating total IgG
975	CD81	HP:0001973	Autoimmune thrombocytopenia
975	CD81	HP:0004313	Decreased circulating antibody level
975	CD81	HP:0000979	Purpura
975	CD81	HP:0002829	Arthralgia
975	CD81	HP:0000248	Brachycephaly
975	CD81	HP:0001531	Failure to thrive in infancy
975	CD81	HP:0002837	Recurrent bronchitis
975	CD81	HP:0000389	Chronic otitis media
975	CD81	HP:0000388	Otitis media
975	CD81	HP:0002910	Elevated hepatic transaminase
975	CD81	HP:0012476	Decreased specific pneumococcal antibody level
975	CD81	HP:0001744	Splenomegaly
975	CD81	HP:0006783	Posterior pharyngeal cleft
975	CD81	HP:0012587	Macroscopic hematuria
975	CD81	HP:0012593	Nephrotic range proteinuria
975	CD81	HP:0001888	Lymphopenia
975	CD81	HP:0001878	Hemolytic anemia
977	CD151	HP:0003774	Stage 5 chronic kidney disease
977	CD151	HP:0000007	Autosomal recessive inheritance
977	CD151	HP:0007678	Lacrimal duct stenosis
977	CD151	HP:0000123	Nephritis
977	CD151	HP:0004722	Thickened glomerular basement membrane
977	CD151	HP:0008404	Nail dystrophy
977	CD151	HP:0033485	Glomerular basement membrane disruption
977	CD151	HP:0012221	Pretibial blistering
977	CD151	HP:0000407	Sensorineural hearing impairment
987	LRBA	HP:0410252	Chronic neutropenia
987	LRBA	HP:0100806	Sepsis
987	LRBA	HP:0002582	Atrophic gastritis
987	LRBA	HP:0002583	Colitis
987	LRBA	HP:0010976	B lymphocytopenia
987	LRBA	HP:0001369	Arthritis
987	LRBA	HP:0000007	Autosomal recessive inheritance
987	LRBA	HP:0002665	Lymphoma
987	LRBA	HP:0008940	Generalized lymphadenopathy
987	LRBA	HP:0002719	Recurrent infections
987	LRBA	HP:0002716	Lymphadenopathy
987	LRBA	HP:0002720	Decreased circulating IgA level
987	LRBA	HP:0002721	Immunodeficiency
987	LRBA	HP:0002037	Inflammation of the large intestine
987	LRBA	HP:0002028	Chronic diarrhea
987	LRBA	HP:0002099	Asthma
987	LRBA	HP:0002090	Pneumonia
987	LRBA	HP:0002110	Bronchiectasis
987	LRBA	HP:0002205	Recurrent respiratory infections
987	LRBA	HP:0100759	Clubbing of fingers
987	LRBA	HP:0001045	Vitiligo
987	LRBA	HP:0100651	Type I diabetes mellitus
987	LRBA	HP:0100646	Thyroiditis
987	LRBA	HP:0032140	Decreased specific antibody response to vaccination
987	LRBA	HP:0005523	Lymphoproliferative disorder
987	LRBA	HP:0001973	Autoimmune thrombocytopenia
987	LRBA	HP:0004315	Decreased circulating IgG level
987	LRBA	HP:0011473	Villous atrophy
987	LRBA	HP:0000821	Hypothyroidism
987	LRBA	HP:0012219	Erythema nodosum
987	LRBA	HP:0025526	Psoriasiform lesion
987	LRBA	HP:0001508	Failure to thrive
987	LRBA	HP:0002850	Decreased circulating total IgM
987	LRBA	HP:0001510	Growth delay
987	LRBA	HP:0006528	Chronic lung disease
987	LRBA	HP:0006532	Recurrent pneumonia
987	LRBA	HP:0000403	Recurrent otitis media
987	LRBA	HP:0011108	Recurrent sinusitis
987	LRBA	HP:0001744	Splenomegaly
987	LRBA	HP:0000509	Conjunctivitis
987	LRBA	HP:0001890	Autoimmune hemolytic anemia
987	LRBA	HP:0000554	Uveitis
987	LRBA	HP:0030388	Decreased proportion of class-switched memory B cells
987	LRBA	HP:0001873	Thrombocytopenia
987	LRBA	HP:0001876	Pancytopenia
990	CDC6	HP:0009939	Mandibular aplasia
990	CDC6	HP:0009892	Anotia
990	CDC6	HP:0008551	Microtia
990	CDC6	HP:0001249	Intellectual disability
990	CDC6	HP:0001263	Global developmental delay
990	CDC6	HP:0008736	Hypoplasia of penis
990	CDC6	HP:0008665	Clitoral hypertrophy
990	CDC6	HP:0000064	Hypoplastic labia minora
990	CDC6	HP:0000060	Clitoral hypoplasia
990	CDC6	HP:0000059	Hypoplastic labia majora
990	CDC6	HP:0000039	Epispadias
990	CDC6	HP:0000054	Micropenis
990	CDC6	HP:0000047	Hypospadias
990	CDC6	HP:0001363	Craniosynostosis
990	CDC6	HP:0000028	Cryptorchidism
990	CDC6	HP:0001328	Specific learning disability
990	CDC6	HP:0000007	Autosomal recessive inheritance
990	CDC6	HP:0000193	Bifid uvula
990	CDC6	HP:0000160	Narrow mouth
990	CDC6	HP:0000176	Submucous cleft hard palate
990	CDC6	HP:0000175	Cleft palate
990	CDC6	HP:0002705	High, narrow palate
990	CDC6	HP:0002750	Delayed skeletal maturation
990	CDC6	HP:0002020	Gastroesophageal reflux
990	CDC6	HP:0002098	Respiratory distress
990	CDC6	HP:0002094	Dyspnea
990	CDC6	HP:0005930	Abnormal epiphysis morphology
990	CDC6	HP:0100490	Camptodactyly of finger
990	CDC6	HP:0003577	Congenital onset
990	CDC6	HP:0003561	Birth length less than 3rd percentile
990	CDC6	HP:0100783	Breast aplasia
990	CDC6	HP:0011968	Feeding difficulties
990	CDC6	HP:0003510	Severe short stature
990	CDC6	HP:0004209	Clinodactyly of the 5th finger
990	CDC6	HP:0011342	Mild global developmental delay
990	CDC6	HP:0004322	Short stature
990	CDC6	HP:0005692	Joint hyperflexibility
990	CDC6	HP:0003042	Elbow dislocation
990	CDC6	HP:0000772	Abnormal rib morphology
990	CDC6	HP:0003100	Slender long bone
990	CDC6	HP:0003090	Hypoplasia of the capital femoral epiphysis
990	CDC6	HP:0000278	Retrognathia
990	CDC6	HP:0006443	Patellar aplasia
990	CDC6	HP:0030084	Clinodactyly
990	CDC6	HP:0006361	Irregular femoral epiphysis
990	CDC6	HP:0000252	Microcephaly
990	CDC6	HP:0002878	Respiratory failure
990	CDC6	HP:0001508	Failure to thrive
990	CDC6	HP:0001511	Intrauterine growth retardation
990	CDC6	HP:0001510	Growth delay
990	CDC6	HP:0000385	Small earlobe
990	CDC6	HP:0000365	Hearing impairment
990	CDC6	HP:0000356	Abnormality of the outer ear
990	CDC6	HP:0000358	Posteriorly rotated ears
990	CDC6	HP:0000369	Low-set ears
990	CDC6	HP:0000343	Long philtrum
990	CDC6	HP:0000347	Micrognathia
990	CDC6	HP:0000327	Hypoplasia of the maxilla
990	CDC6	HP:0000325	Triangular face
990	CDC6	HP:0006660	Aplastic clavicle
990	CDC6	HP:0012471	Thick vermilion border
990	CDC6	HP:0000413	Atresia of the external auditory canal
990	CDC6	HP:0011267	Microtia, third degree
990	CDC6	HP:0005487	Prominent metopic ridge
998	CDC42	HP:0001182	Tapered finger
998	CDC42	HP:0002465	Poor speech
998	CDC42	HP:0003764	Nevus
998	CDC42	HP:0001290	Generalized hypotonia
998	CDC42	HP:0001272	Cerebellar atrophy
998	CDC42	HP:0001250	Seizure
998	CDC42	HP:0001251	Ataxia
998	CDC42	HP:0001249	Intellectual disability
998	CDC42	HP:0001263	Global developmental delay
998	CDC42	HP:0410263	Brain imaging abnormality
998	CDC42	HP:0002553	Highly arched eyebrow
998	CDC42	HP:0002518	Abnormal periventricular white matter morphology
998	CDC42	HP:0002500	Abnormal cerebral white matter morphology
998	CDC42	HP:0001371	Flexion contracture
998	CDC42	HP:0000047	Hypospadias
998	CDC42	HP:0000023	Inguinal hernia
998	CDC42	HP:0000028	Cryptorchidism
998	CDC42	HP:0008897	Postnatal growth retardation
998	CDC42	HP:0001344	Absent speech
998	CDC42	HP:0000006	Autosomal dominant inheritance
998	CDC42	HP:0001305	Dandy-Walker malformation
998	CDC42	HP:0002650	Scoliosis
998	CDC42	HP:0001321	Cerebellar hypoplasia
998	CDC42	HP:0000154	Wide mouth
998	CDC42	HP:0007663	Reduced visual acuity
998	CDC42	HP:0007655	Eversion of lateral third of lower eyelids
998	CDC42	HP:0008947	Infantile muscular hypotonia
998	CDC42	HP:0000122	Unilateral renal agenesis
998	CDC42	HP:0000119	Abnormality of the genitourinary system
998	CDC42	HP:0000126	Hydronephrosis
998	CDC42	HP:0002719	Recurrent infections
998	CDC42	HP:0002714	Downturned corners of mouth
998	CDC42	HP:0002721	Immunodeficiency
998	CDC42	HP:0011800	Midface retrusion
998	CDC42	HP:0002079	Hypoplasia of the corpus callosum
998	CDC42	HP:0002120	Cerebral cortical atrophy
998	CDC42	HP:0002119	Ventriculomegaly
998	CDC42	HP:0009623	Proximal placement of thumb
998	CDC42	HP:0011877	Increased mean platelet volume
998	CDC42	HP:0100763	Abnormality of the lymphatic system
998	CDC42	HP:0007033	Cerebellar dysplasia
998	CDC42	HP:0001004	Lymphedema
998	CDC42	HP:0010804	Tented upper lip vermilion
998	CDC42	HP:0000648	Optic atrophy
998	CDC42	HP:0000689	Dental malocclusion
998	CDC42	HP:0000687	Widely spaced teeth
998	CDC42	HP:0001999	Abnormal facial shape
998	CDC42	HP:0000664	Synophrys
998	CDC42	HP:0000766	Abnormal sternum morphology
998	CDC42	HP:0000924	Abnormality of the skeletal system
998	CDC42	HP:0000818	Abnormality of the endocrine system
998	CDC42	HP:0045075	Sparse eyebrow
998	CDC42	HP:0030084	Clinodactyly
998	CDC42	HP:0000253	Progressive microcephaly
998	CDC42	HP:0000252	Microcephaly
998	CDC42	HP:0000219	Thin upper lip vermilion
998	CDC42	HP:0012385	Camptodactyly
998	CDC42	HP:0005160	Total anomalous pulmonary venous return
998	CDC42	HP:0000365	Hearing impairment
998	CDC42	HP:0000358	Posteriorly rotated ears
998	CDC42	HP:0000369	Low-set ears
998	CDC42	HP:0000368	Low-set, posteriorly rotated ears
998	CDC42	HP:0000341	Narrow forehead
998	CDC42	HP:0001671	Abnormal cardiac septum morphology
998	CDC42	HP:0000343	Long philtrum
998	CDC42	HP:0000319	Smooth philtrum
998	CDC42	HP:0000316	Hypertelorism
998	CDC42	HP:0001643	Patent ductus arteriosus
998	CDC42	HP:0001642	Pulmonic stenosis
998	CDC42	HP:0000322	Short philtrum
998	CDC42	HP:0001627	Abnormal heart morphology
998	CDC42	HP:0000407	Sensorineural hearing impairment
998	CDC42	HP:0000486	Strabismus
998	CDC42	HP:0000494	Downslanted palpebral fissures
998	CDC42	HP:0000454	Flared nostrils
998	CDC42	HP:0000465	Webbed neck
998	CDC42	HP:0000414	Bulbous nose
998	CDC42	HP:0000431	Wide nasal bridge
998	CDC42	HP:0001845	Overlapping toe
998	CDC42	HP:0000508	Ptosis
998	CDC42	HP:0000582	Upslanted palpebral fissure
998	CDC42	HP:0000577	Exotropia
998	CDC42	HP:0011220	Prominent forehead
998	CDC42	HP:0001873	Thrombocytopenia
999	CDH1	HP:0009890	High anterior hairline
999	CDH1	HP:0002582	Atrophic gastritis
999	CDH1	HP:0006101	Finger syndactyly
999	CDH1	HP:0008872	Feeding difficulties in infancy
999	CDH1	HP:0000006	Autosomal dominant inheritance
999	CDH1	HP:0000175	Cleft palate
999	CDH1	HP:0012125	Prostate cancer
999	CDH1	HP:0012126	Stomach cancer
999	CDH1	HP:0012114	Endometrial carcinoma
999	CDH1	HP:0006342	Peg-shaped maxillary lateral incisors
999	CDH1	HP:0007651	Ectropion of lower eyelids
999	CDH1	HP:0006292	Abnormality of dental eruption
999	CDH1	HP:0001428	Somatic mutation
999	CDH1	HP:0002744	Bilateral cleft lip and palate
999	CDH1	HP:0002023	Anal atresia
999	CDH1	HP:0002033	Poor suck
999	CDH1	HP:0002164	Nail dysplasia
999	CDH1	HP:0003581	Adult onset
999	CDH1	HP:0009743	Distichiasis
999	CDH1	HP:0200153	Agenesis of lateral incisor
999	CDH1	HP:0200136	Oral-pharyngeal dysphagia
999	CDH1	HP:0200040	Epidermoid cyst
999	CDH1	HP:0100621	Dysgerminoma
999	CDH1	HP:0009088	Speech articulation difficulties
999	CDH1	HP:0011362	Abnormal hair quantity
999	CDH1	HP:0000698	Conical tooth
999	CDH1	HP:0000689	Dental malocclusion
999	CDH1	HP:0000670	Carious teeth
999	CDH1	HP:0000668	Hypodontia
999	CDH1	HP:0003002	Breast carcinoma
999	CDH1	HP:0004395	Malnutrition
999	CDH1	HP:0012725	Cutaneous syndactyly
999	CDH1	HP:0000750	Delayed speech and language development
999	CDH1	HP:0012905	Euryblepharon
999	CDH1	HP:0004471	Aplasia cutis congenita over the scalp vertex
999	CDH1	HP:0100337	Bilateral cleft palate
999	CDH1	HP:0100334	Unilateral cleft palate
999	CDH1	HP:0010294	Palate fistula
999	CDH1	HP:0045005	Neural tube defect
999	CDH1	HP:0008070	Sparse hair
999	CDH1	HP:0030084	Clinodactyly
999	CDH1	HP:0000220	Velopharyngeal insufficiency
999	CDH1	HP:0030001	Lagophthalmos
999	CDH1	HP:0000202	Orofacial cleft
999	CDH1	HP:0000204	Cleft upper lip
999	CDH1	HP:0012368	Flat face
999	CDH1	HP:0011044	Abnormal number of permanent teeth
999	CDH1	HP:0001611	Hypernasal speech
999	CDH1	HP:0000348	High forehead
999	CDH1	HP:0000316	Hypertelorism
999	CDH1	HP:0000327	Hypoplasia of the maxilla
999	CDH1	HP:0000403	Recurrent otitis media
999	CDH1	HP:0000405	Conductive hearing impairment
999	CDH1	HP:0000478	Abnormality of the eye
999	CDH1	HP:0000492	Abnormal eyelid morphology
999	CDH1	HP:0001792	Small nail
999	CDH1	HP:0000453	Choanal atresia
999	CDH1	HP:0006774	Ovarian papillary adenocarcinoma
999	CDH1	HP:0000504	Abnormality of vision
1000	CDH2	HP:0010862	Delayed fine motor development
1000	CDH2	HP:0001274	Agenesis of corpus callosum
1000	CDH2	HP:0001249	Intellectual disability
1000	CDH2	HP:0001263	Global developmental delay
1000	CDH2	HP:0002558	Supernumerary nipple
1000	CDH2	HP:0008765	Auditory hallucinations
1000	CDH2	HP:0032327	Interhemispheric cyst
1000	CDH2	HP:0000054	Micropenis
1000	CDH2	HP:0000028	Cryptorchidism
1000	CDH2	HP:0000007	Autosomal recessive inheritance
1000	CDH2	HP:0001335	Bimanual synkinesia
1000	CDH2	HP:0000006	Autosomal dominant inheritance
1000	CDH2	HP:0008936	Axial hypotonia
1000	CDH2	HP:0002007	Frontal bossing
1000	CDH2	HP:0033105	Interhypothalamic Adhesion
1000	CDH2	HP:0011713	Left bundle branch block
1000	CDH2	HP:0004756	Ventricular tachycardia
1000	CDH2	HP:0002194	Delayed gross motor development
1000	CDH2	HP:0002162	Low posterior hairline
1000	CDH2	HP:0003596	Middle age onset
1000	CDH2	HP:0100710	Impulsivity
1000	CDH2	HP:0100716	Self-injurious behavior
1000	CDH2	HP:0002280	Enlarged cisterna magna
1000	CDH2	HP:0100749	Chest pain
1000	CDH2	HP:0007018	Attention deficit hyperactivity disorder
1000	CDH2	HP:0002384	Focal impaired awareness seizure
1000	CDH2	HP:0007165	Periventricular heterotopia
1000	CDH2	HP:0003621	Juvenile onset
1000	CDH2	HP:0001962	Palpitations
1000	CDH2	HP:0011342	Mild global developmental delay
1000	CDH2	HP:0000659	Peters anomaly
1000	CDH2	HP:0000664	Synophrys
1000	CDH2	HP:0031972	Presyncope
1000	CDH2	HP:0000739	Anxiety
1000	CDH2	HP:0000729	Autistic behavior
1000	CDH2	HP:0011463	Childhood onset
1000	CDH2	HP:0011462	Young adult onset
1000	CDH2	HP:0000912	Sprengel anomaly
1000	CDH2	HP:0000256	Macrocephaly
1000	CDH2	HP:0005133	Right ventricular dilatation
1000	CDH2	HP:0000219	Thin upper lip vermilion
1000	CDH2	HP:0000218	High palate
1000	CDH2	HP:0000391	Thickened helices
1000	CDH2	HP:0005180	Tricuspid regurgitation
1000	CDH2	HP:0000358	Posteriorly rotated ears
1000	CDH2	HP:0000369	Low-set ears
1000	CDH2	HP:0000343	Long philtrum
1000	CDH2	HP:0000337	Broad forehead
1000	CDH2	HP:0001680	Coarctation of aorta
1000	CDH2	HP:0001651	Dextrocardia
1000	CDH2	HP:0000319	Smooth philtrum
1000	CDH2	HP:0000316	Hypertelorism
1000	CDH2	HP:0000322	Short philtrum
1000	CDH2	HP:0000307	Pointed chin
1000	CDH2	HP:0006695	Atrioventricular canal defect
1000	CDH2	HP:0006682	Premature ventricular contraction
1000	CDH2	HP:0005280	Depressed nasal bridge
1000	CDH2	HP:0000486	Strabismus
1000	CDH2	HP:0012469	Infantile spasms
1000	CDH2	HP:0000494	Downslanted palpebral fissures
1000	CDH2	HP:0000490	Deeply set eye
1000	CDH2	HP:0000506	Telecanthus
1000	CDH2	HP:0011220	Prominent forehead
1001	CDH3	HP:0001171	Split hand
1001	CDH3	HP:0003777	Pili torti
1001	CDH3	HP:0001231	Abnormal fingernail morphology
1001	CDH3	HP:0001233	2-3 finger syndactyly
1001	CDH3	HP:0006101	Finger syndactyly
1001	CDH3	HP:0006097	3-4 finger syndactyly
1001	CDH3	HP:0032497	Reduced terminal:vellus ratio
1001	CDH3	HP:0000007	Autosomal recessive inheritance
1001	CDH3	HP:0002652	Skeletal dysplasia
1001	CDH3	HP:0000164	Abnormality of the dentition
1001	CDH3	HP:0001480	Freckling
1001	CDH3	HP:0007663	Reduced visual acuity
1001	CDH3	HP:0009473	Joint contracture of the hand
1001	CDH3	HP:0003577	Congenital onset
1001	CDH3	HP:0002223	Absent eyebrow
1001	CDH3	HP:0002231	Sparse body hair
1001	CDH3	HP:0002213	Fine hair
1001	CDH3	HP:0002209	Sparse scalp hair
1001	CDH3	HP:0010709	2-4 finger syndactyly
1001	CDH3	HP:0010707	1-4 finger syndactyly
1001	CDH3	HP:0002299	Brittle hair
1001	CDH3	HP:0009779	3-4 toe syndactyly
1001	CDH3	HP:0000639	Nystagmus
1001	CDH3	HP:0000618	Blindness
1001	CDH3	HP:0000608	Macular degeneration
1001	CDH3	HP:0000691	Microdontia
1001	CDH3	HP:0000687	Widely spaced teeth
1001	CDH3	HP:0000653	Sparse eyelashes
1001	CDH3	HP:0000670	Carious teeth
1001	CDH3	HP:0004322	Short stature
1001	CDH3	HP:0100326	Immunologic hypersensitivity
1001	CDH3	HP:0045075	Sparse eyebrow
1001	CDH3	HP:0000995	Melanocytic nevus
1001	CDH3	HP:0100257	Ectrodactyly
1001	CDH3	HP:0008002	Abnormality of macular pigmentation
1001	CDH3	HP:0000975	Hyperhidrosis
1001	CDH3	HP:0000971	Abnormal sweat gland morphology
1001	CDH3	HP:0000968	Ectodermal dysplasia
1001	CDH3	HP:0000962	Hyperkeratosis
1001	CDH3	HP:0008070	Sparse hair
1001	CDH3	HP:0007703	Abnormality of retinal pigmentation
1001	CDH3	HP:0001597	Abnormality of the nail
1001	CDH3	HP:0001592	Selective tooth agenesis
1001	CDH3	HP:0007754	Macular dystrophy
1001	CDH3	HP:0002813	Abnormality of limb bone morphology
1001	CDH3	HP:0012385	Camptodactyly
1001	CDH3	HP:0006482	Abnormality of dental morphology
1001	CDH3	HP:0000486	Strabismus
1001	CDH3	HP:0000478	Abnormality of the eye
1001	CDH3	HP:0000488	Retinopathy
1001	CDH3	HP:0000504	Abnormality of vision
1009	CDH11	HP:0001156	Brachydactyly
1009	CDH11	HP:0001159	Syndactyly
1009	CDH11	HP:0009907	Attached earlobe
1009	CDH11	HP:0010862	Delayed fine motor development
1009	CDH11	HP:0003764	Nevus
1009	CDH11	HP:0001256	Intellectual disability, mild
1009	CDH11	HP:0001250	Seizure
1009	CDH11	HP:0001249	Intellectual disability
1009	CDH11	HP:0001263	Global developmental delay
1009	CDH11	HP:0002561	Absent nipple
1009	CDH11	HP:0008689	Bilateral cryptorchidism
1009	CDH11	HP:0002553	Highly arched eyebrow
1009	CDH11	HP:0000071	Ureteral stenosis
1009	CDH11	HP:0000042	Absent external genitalia
1009	CDH11	HP:0000054	Micropenis
1009	CDH11	HP:0000048	Bifid scrotum
1009	CDH11	HP:0000047	Hypospadias
1009	CDH11	HP:0002684	Thickened calvaria
1009	CDH11	HP:0002679	Abnormal sella turcica morphology
1009	CDH11	HP:0001363	Craniosynostosis
1009	CDH11	HP:0000007	Autosomal recessive inheritance
1009	CDH11	HP:0000006	Autosomal dominant inheritance
1009	CDH11	HP:0000179	Thick lower lip vermilion
1009	CDH11	HP:0000193	Bifid uvula
1009	CDH11	HP:0000164	Abnormality of the dentition
1009	CDH11	HP:0000176	Submucous cleft hard palate
1009	CDH11	HP:0000175	Cleft palate
1009	CDH11	HP:0002714	Downturned corners of mouth
1009	CDH11	HP:0002025	Anal stenosis
1009	CDH11	HP:0003319	Abnormality of the cervical spine
1009	CDH11	HP:0011800	Midface retrusion
1009	CDH11	HP:0004602	Cervical C2/C3 vertebral fusion
1009	CDH11	HP:0003423	Thoracolumbar kyphoscoliosis
1009	CDH11	HP:0011910	Shortening of all phalanges of fingers
1009	CDH11	HP:0010554	Cutaneous finger syndactyly
1009	CDH11	HP:0011823	Chin with horizontal crease
1009	CDH11	HP:0003577	Congenital onset
1009	CDH11	HP:0010724	Advanced pneumatization of the mastoid process
1009	CDH11	HP:0009748	Large earlobe
1009	CDH11	HP:0007018	Attention deficit hyperactivity disorder
1009	CDH11	HP:0020049	Exodeviation
1009	CDH11	HP:0002342	Intellectual disability, moderate
1009	CDH11	HP:0008516	Abnormality of the vertebral spinous processes
1009	CDH11	HP:0009818	Amelia involving the lower limbs
1009	CDH11	HP:0009814	Upper limb peromelia
1009	CDH11	HP:0010749	Blepharochalasis
1009	CDH11	HP:0009765	Low hanging columella
1009	CDH11	HP:0004209	Clinodactyly of the 5th finger
1009	CDH11	HP:0000636	Upper eyelid coloboma
1009	CDH11	HP:0000625	Eyelid coloboma
1009	CDH11	HP:0000607	Periorbital wrinkles
1009	CDH11	HP:0000684	Delayed eruption of teeth
1009	CDH11	HP:0000691	Microdontia
1009	CDH11	HP:0000689	Dental malocclusion
1009	CDH11	HP:0000670	Carious teeth
1009	CDH11	HP:0000667	Phthisis bulbi
1009	CDH11	HP:0000664	Synophrys
1009	CDH11	HP:0000808	Penoscrotal hypospadias
1009	CDH11	HP:0004378	Abnormality of the anus
1009	CDH11	HP:0000767	Pectus excavatum
1009	CDH11	HP:0000729	Autistic behavior
1009	CDH11	HP:0012796	Increased cup-to-disc ratio
1009	CDH11	HP:0010299	Abnormal dentin morphology
1009	CDH11	HP:0003196	Short nose
1009	CDH11	HP:0100334	Unilateral cleft palate
1009	CDH11	HP:0000289	Broad philtrum
1009	CDH11	HP:0000260	Wide anterior fontanel
1009	CDH11	HP:0000272	Malar flattening
1009	CDH11	HP:0001571	Multiple impacted teeth
1009	CDH11	HP:0000252	Microcephaly
1009	CDH11	HP:0000248	Brachycephaly
1009	CDH11	HP:0000219	Thin upper lip vermilion
1009	CDH11	HP:0000218	High palate
1009	CDH11	HP:0001545	Anteriorly placed anus
1009	CDH11	HP:0000233	Thin vermilion border
1009	CDH11	HP:0000232	Everted lower lip vermilion
1009	CDH11	HP:0001537	Umbilical hernia
1009	CDH11	HP:0002836	Bladder exstrophy
1009	CDH11	HP:0011069	Supernumerary tooth
1009	CDH11	HP:0011072	Rootless teeth
1009	CDH11	HP:0011079	Impacted tooth
1009	CDH11	HP:0012368	Flat face
1009	CDH11	HP:0006480	Premature loss of teeth
1009	CDH11	HP:0006485	Agenesis of incisor
1009	CDH11	HP:0000365	Hearing impairment
1009	CDH11	HP:0000358	Posteriorly rotated ears
1009	CDH11	HP:0000369	Low-set ears
1009	CDH11	HP:0000341	Narrow forehead
1009	CDH11	HP:0000343	Long philtrum
1009	CDH11	HP:0000337	Broad forehead
1009	CDH11	HP:0000348	High forehead
1009	CDH11	HP:0000316	Hypertelorism
1009	CDH11	HP:0000327	Hypoplasia of the maxilla
1009	CDH11	HP:0000322	Short philtrum
1009	CDH11	HP:0000324	Facial asymmetry
1009	CDH11	HP:0000309	Abnormal midface morphology
1009	CDH11	HP:0000307	Pointed chin
1009	CDH11	HP:0000303	Mandibular prognathia
1009	CDH11	HP:0006610	Wide intermamillary distance
1009	CDH11	HP:0005280	Depressed nasal bridge
1009	CDH11	HP:0000486	Strabismus
1009	CDH11	HP:0000485	Megalocornea
1009	CDH11	HP:0000494	Downslanted palpebral fissures
1009	CDH11	HP:0000463	Anteverted nares
1009	CDH11	HP:0000455	Broad nasal tip
1009	CDH11	HP:0000456	Bifid nasal tip
1009	CDH11	HP:0000470	Short neck
1009	CDH11	HP:0000445	Wide nose
1009	CDH11	HP:0000414	Bulbous nose
1009	CDH11	HP:0000410	Mixed hearing impairment
1009	CDH11	HP:0000431	Wide nasal bridge
1009	CDH11	HP:0000518	Cataract
1009	CDH11	HP:0000520	Proptosis
1009	CDH11	HP:0000506	Telecanthus
1009	CDH11	HP:0000508	Ptosis
1009	CDH11	HP:0000501	Glaucoma
1009	CDH11	HP:0000574	Thick eyebrow
1013	CDH15	HP:0001250	Seizure
1013	CDH15	HP:0001249	Intellectual disability
1013	CDH15	HP:0000006	Autosomal dominant inheritance
1013	CDH15	HP:0000729	Autistic behavior
1019	CDK4	HP:0003764	Nevus
1019	CDK4	HP:0002579	Gastrointestinal dysmotility
1019	CDK4	HP:0012056	Cutaneous melanoma
1019	CDK4	HP:0000006	Autosomal dominant inheritance
1019	CDK4	HP:0001480	Freckling
1019	CDK4	HP:0001482	Subcutaneous nodule
1019	CDK4	HP:0002071	Abnormality of extrapyramidal motor function
1019	CDK4	HP:0100763	Abnormality of the lymphatic system
1019	CDK4	HP:0001054	Numerous nevi
1019	CDK4	HP:0001062	Atypical nevus
1019	CDK4	HP:0001074	Atypical nevi in non-sun exposed areas
1019	CDK4	HP:0100013	Neoplasm of the breast
1019	CDK4	HP:0000958	Dry skin
1019	CDK4	HP:0001595	Abnormal hair morphology
1019	CDK4	HP:0012211	Abnormal renal physiology
1019	CDK4	HP:0002894	Neoplasm of the pancreas
1019	CDK4	HP:0002861	Melanoma
1019	CDK4	HP:0000488	Retinopathy
1019	CDK4	HP:0006753	Neoplasm of the stomach
1020	CDK5	HP:0001188	Hand clenching
1020	CDK5	HP:0010851	EEG with burst suppression
1020	CDK5	HP:0001274	Agenesis of corpus callosum
1020	CDK5	HP:0001284	Areflexia
1020	CDK5	HP:0001250	Seizure
1020	CDK5	HP:0001263	Global developmental delay
1020	CDK5	HP:0003811	Neonatal death
1020	CDK5	HP:0001339	Lissencephaly
1020	CDK5	HP:0000007	Autosomal recessive inheritance
1020	CDK5	HP:0001321	Cerebellar hypoplasia
1020	CDK5	HP:0002714	Downturned corners of mouth
1020	CDK5	HP:0002151	Increased serum lactate
1020	CDK5	HP:0011922	Abnormal activity of mitochondrial respiratory chain
1020	CDK5	HP:0003577	Congenital onset
1020	CDK5	HP:0001004	Lymphedema
1020	CDK5	HP:0001007	Hirsutism
1020	CDK5	HP:0031882	Agyria
1020	CDK5	HP:0000293	Full cheeks
1020	CDK5	HP:0000294	Low anterior hairline
1020	CDK5	HP:0002804	Arthrogryposis multiplex congenita
1020	CDK5	HP:0000252	Microcephaly
1020	CDK5	HP:0001522	Death in infancy
1020	CDK5	HP:0000350	Small forehead
1020	CDK5	HP:0000347	Micrognathia
1020	CDK5	HP:0032988	Persistent head lag
1020	CDK5	HP:0000470	Short neck
1021	CDK6	HP:0010864	Intellectual disability, severe
1021	CDK6	HP:0009879	Simplified gyral pattern
1021	CDK6	HP:0001274	Agenesis of corpus callosum
1021	CDK6	HP:0001256	Intellectual disability, mild
1021	CDK6	HP:0001250	Seizure
1021	CDK6	HP:0001263	Global developmental delay
1021	CDK6	HP:0007333	Hypoplasia of the frontal lobes
1021	CDK6	HP:0000076	Vesicoureteral reflux
1021	CDK6	HP:0001347	Hyperreflexia
1021	CDK6	HP:0000007	Autosomal recessive inheritance
1021	CDK6	HP:0001302	Pachygyria
1021	CDK6	HP:0000122	Unilateral renal agenesis
1021	CDK6	HP:0002119	Ventriculomegaly
1021	CDK6	HP:0003577	Congenital onset
1021	CDK6	HP:0002282	Gray matter heterotopia
1021	CDK6	HP:0004322	Short stature
1021	CDK6	HP:0011451	Primary microcephaly
1021	CDK6	HP:0003103	Abnormal cortical bone morphology
1021	CDK6	HP:0000252	Microcephaly
1021	CDK6	HP:0000219	Thin upper lip vermilion
1021	CDK6	HP:0001510	Growth delay
1021	CDK6	HP:0000340	Sloping forehead
1021	CDK6	HP:0000582	Upslanted palpebral fissure
1024	CDK8	HP:0001290	Generalized hypotonia
1024	CDK8	HP:0001274	Agenesis of corpus callosum
1024	CDK8	HP:0001270	Motor delay
1024	CDK8	HP:0001250	Seizure
1024	CDK8	HP:0001249	Intellectual disability
1024	CDK8	HP:0002572	Episodic vomiting
1024	CDK8	HP:0000028	Cryptorchidism
1024	CDK8	HP:0008872	Feeding difficulties in infancy
1024	CDK8	HP:0000006	Autosomal dominant inheritance
1024	CDK8	HP:0004792	Rectoperineal fistula
1024	CDK8	HP:0007018	Attention deficit hyperactivity disorder
1024	CDK8	HP:0002355	Difficulty walking
1024	CDK8	HP:0011330	Metopic synostosis
1024	CDK8	HP:0001999	Abnormal facial shape
1024	CDK8	HP:0004383	Hypoplastic left heart
1024	CDK8	HP:0000729	Autistic behavior
1024	CDK8	HP:0001545	Anteriorly placed anus
1024	CDK8	HP:0001680	Coarctation of aorta
1024	CDK8	HP:0001655	Patent foramen ovale
1024	CDK8	HP:0001629	Ventricular septal defect
1024	CDK8	HP:0001636	Tetralogy of Fallot
1024	CDK8	HP:0000407	Sensorineural hearing impairment
1024	CDK8	HP:0000486	Strabismus
1024	CDK8	HP:0000508	Ptosis
1024	CDK8	HP:0000505	Visual impairment
1024	CDK8	HP:0000545	Myopia
1026	CDKN1A	HP:0500167	Hypergastrinemia
1026	CDKN1A	HP:0001293	Cranial nerve compression
1026	CDKN1A	HP:0100829	Galactorrhea
1026	CDKN1A	HP:0001289	Confusion
1026	CDKN1A	HP:0001254	Lethargy
1026	CDKN1A	HP:0002588	Duodenal ulcer
1026	CDKN1A	HP:0001259	Coma
1026	CDKN1A	HP:0007449	Confetti-like hypopigmented macules
1026	CDKN1A	HP:0031058	Impairment of activities of daily living
1026	CDKN1A	HP:0002659	Increased susceptibility to fractures
1026	CDKN1A	HP:0002666	Pheochromocytoma
1026	CDKN1A	HP:0012197	Insulinoma
1026	CDKN1A	HP:0000169	Gingival fibromatosis
1026	CDKN1A	HP:0000141	Amenorrhea
1026	CDKN1A	HP:0002797	Osteolysis
1026	CDKN1A	HP:0002020	Gastroesophageal reflux
1026	CDKN1A	HP:0002018	Nausea
1026	CDKN1A	HP:0002019	Constipation
1026	CDKN1A	HP:0002027	Abdominal pain
1026	CDKN1A	HP:0040306	Decreased male libido
1026	CDKN1A	HP:0002014	Diarrhea
1026	CDKN1A	HP:0002013	Vomiting
1026	CDKN1A	HP:0100522	Thymoma
1026	CDKN1A	HP:0002044	Zollinger-Ellison syndrome
1026	CDKN1A	HP:0002039	Anorexia
1026	CDKN1A	HP:0011762	Pituitary thyrotropic cell adenoma
1026	CDKN1A	HP:0011759	Pituitary gonadotropic cell adenoma
1026	CDKN1A	HP:0011760	Pituitary growth hormone cell adenoma
1026	CDKN1A	HP:0011761	Pituitary null cell adenoma
1026	CDKN1A	HP:0100570	Carcinoid tumor
1026	CDKN1A	HP:0002150	Hypercalciuria
1026	CDKN1A	HP:0008200	Primary hyperparathyroidism
1026	CDKN1A	HP:0008208	Parathyroid hyperplasia
1026	CDKN1A	HP:0008291	Pituitary corticotropic cell adenoma
1026	CDKN1A	HP:0002249	Melena
1026	CDKN1A	HP:0002248	Hematemesis
1026	CDKN1A	HP:0003528	Elevated calcitonin
1026	CDKN1A	HP:0032044	Decreased vigilance
1026	CDKN1A	HP:0010615	Angiofibromas
1026	CDKN1A	HP:0001012	Multiple lipomas
1026	CDKN1A	HP:0002315	Headache
1026	CDKN1A	HP:0001944	Dehydration
1026	CDKN1A	HP:0005605	Large cafe-au-lait macules with irregular margins
1026	CDKN1A	HP:0003072	Hypercalcemia
1026	CDKN1A	HP:0000802	Impotence
1026	CDKN1A	HP:0004398	Peptic ulcer
1026	CDKN1A	HP:0004349	Reduced bone mineral density
1026	CDKN1A	HP:0011407	Proportionate tall stature
1026	CDKN1A	HP:0000736	Short attention span
1026	CDKN1A	HP:0000716	Depression
1026	CDKN1A	HP:0000787	Nephrolithiasis
1026	CDKN1A	HP:0003118	Increased circulating cortisol level
1026	CDKN1A	HP:0003144	Increased serum serotonin
1026	CDKN1A	HP:0000853	Goiter
1026	CDKN1A	HP:0000849	Adrenocortical abnormality
1026	CDKN1A	HP:0000845	Elevated circulating growth hormone concentration
1026	CDKN1A	HP:0000822	Hypertension
1026	CDKN1A	HP:0040085	Abnormal circulating aldosterone
1026	CDKN1A	HP:0012232	Shortened QT interval
1026	CDKN1A	HP:0001579	Primary hypercortisolism
1026	CDKN1A	HP:0002894	Neoplasm of the pancreas
1026	CDKN1A	HP:0002893	Pituitary adenoma
1026	CDKN1A	HP:0002890	Thyroid carcinoma
1026	CDKN1A	HP:0002888	Ependymoma
1026	CDKN1A	HP:0002858	Meningioma
1026	CDKN1A	HP:0011151	Atypical absence status epilepticus
1026	CDKN1A	HP:0006744	Adrenocortical carcinoma
1026	CDKN1A	HP:0030405	Pancreatic endocrine tumor
1026	CDKN1A	HP:0030404	Glucagonoma
1026	CDKN1A	HP:0006723	Intestinal carcinoid
1026	CDKN1A	HP:0030445	Pulmonary carcinoid tumor
1026	CDKN1A	HP:0006780	Parathyroid carcinoma
1026	CDKN1A	HP:0006767	Pituitary prolactin cell adenoma
1026	CDKN1A	HP:0001824	Weight loss
1027	CDKN1B	HP:0500167	Hypergastrinemia
1027	CDKN1B	HP:0001293	Cranial nerve compression
1027	CDKN1B	HP:0100829	Galactorrhea
1027	CDKN1B	HP:0001289	Confusion
1027	CDKN1B	HP:0001254	Lethargy
1027	CDKN1B	HP:0002588	Duodenal ulcer
1027	CDKN1B	HP:0001259	Coma
1027	CDKN1B	HP:0002574	Episodic abdominal pain
1027	CDKN1B	HP:0007449	Confetti-like hypopigmented macules
1027	CDKN1B	HP:0031058	Impairment of activities of daily living
1027	CDKN1B	HP:0012030	Increased urinary cortisol level
1027	CDKN1B	HP:0012091	Abnormality of pancreas physiology
1027	CDKN1B	HP:0002659	Increased susceptibility to fractures
1027	CDKN1B	HP:0000006	Autosomal dominant inheritance
1027	CDKN1B	HP:0002666	Pheochromocytoma
1027	CDKN1B	HP:0012197	Insulinoma
1027	CDKN1B	HP:0000169	Gingival fibromatosis
1027	CDKN1B	HP:0000141	Amenorrhea
1027	CDKN1B	HP:0002797	Osteolysis
1027	CDKN1B	HP:0002020	Gastroesophageal reflux
1027	CDKN1B	HP:0002018	Nausea
1027	CDKN1B	HP:0002019	Constipation
1027	CDKN1B	HP:0002027	Abdominal pain
1027	CDKN1B	HP:0040306	Decreased male libido
1027	CDKN1B	HP:0002014	Diarrhea
1027	CDKN1B	HP:0002013	Vomiting
1027	CDKN1B	HP:0100522	Thymoma
1027	CDKN1B	HP:0002044	Zollinger-Ellison syndrome
1027	CDKN1B	HP:0002039	Anorexia
1027	CDKN1B	HP:0011762	Pituitary thyrotropic cell adenoma
1027	CDKN1B	HP:0011759	Pituitary gonadotropic cell adenoma
1027	CDKN1B	HP:0011760	Pituitary growth hormone cell adenoma
1027	CDKN1B	HP:0011761	Pituitary null cell adenoma
1027	CDKN1B	HP:0100570	Carcinoid tumor
1027	CDKN1B	HP:0002150	Hypercalciuria
1027	CDKN1B	HP:0008256	Adrenocortical adenoma
1027	CDKN1B	HP:0008200	Primary hyperparathyroidism
1027	CDKN1B	HP:0008208	Parathyroid hyperplasia
1027	CDKN1B	HP:0008291	Pituitary corticotropic cell adenoma
1027	CDKN1B	HP:0008283	Fasting hyperinsulinemia
1027	CDKN1B	HP:0002249	Melena
1027	CDKN1B	HP:0002248	Hematemesis
1027	CDKN1B	HP:0003528	Elevated calcitonin
1027	CDKN1B	HP:0032044	Decreased vigilance
1027	CDKN1B	HP:0010615	Angiofibromas
1027	CDKN1B	HP:0001031	Subcutaneous lipoma
1027	CDKN1B	HP:0001012	Multiple lipomas
1027	CDKN1B	HP:0002315	Headache
1027	CDKN1B	HP:0100633	Esophagitis
1027	CDKN1B	HP:0100634	Neuroendocrine neoplasm
1027	CDKN1B	HP:0010783	Erythema
1027	CDKN1B	HP:0010788	Testicular neoplasm
1027	CDKN1B	HP:0001944	Dehydration
1027	CDKN1B	HP:0005605	Large cafe-au-lait macules with irregular margins
1027	CDKN1B	HP:0030688	Increased glucagon level
1027	CDKN1B	HP:0003072	Hypercalcemia
1027	CDKN1B	HP:0000802	Impotence
1027	CDKN1B	HP:0004398	Peptic ulcer
1027	CDKN1B	HP:0004349	Reduced bone mineral density
1027	CDKN1B	HP:0011407	Proportionate tall stature
1027	CDKN1B	HP:0000736	Short attention span
1027	CDKN1B	HP:0000716	Depression
1027	CDKN1B	HP:0000787	Nephrolithiasis
1027	CDKN1B	HP:0030731	Carcinoma
1027	CDKN1B	HP:0003118	Increased circulating cortisol level
1027	CDKN1B	HP:0003165	Elevated circulating parathyroid hormone level
1027	CDKN1B	HP:0003144	Increased serum serotonin
1027	CDKN1B	HP:0000872	Hashimoto thyroiditis
1027	CDKN1B	HP:0000854	Thyroid adenoma
1027	CDKN1B	HP:0000853	Goiter
1027	CDKN1B	HP:0000849	Adrenocortical abnormality
1027	CDKN1B	HP:0000843	Hyperparathyroidism
1027	CDKN1B	HP:0000845	Elevated circulating growth hormone concentration
1027	CDKN1B	HP:0000818	Abnormality of the endocrine system
1027	CDKN1B	HP:0000825	Hyperinsulinemic hypoglycemia
1027	CDKN1B	HP:0000822	Hypertension
1027	CDKN1B	HP:0000821	Hypothyroidism
1027	CDKN1B	HP:0040085	Abnormal circulating aldosterone
1027	CDKN1B	HP:0030079	Cervix cancer
1027	CDKN1B	HP:0012232	Shortened QT interval
1027	CDKN1B	HP:0002897	Parathyroid adenoma
1027	CDKN1B	HP:0001579	Primary hypercortisolism
1027	CDKN1B	HP:0002894	Neoplasm of the pancreas
1027	CDKN1B	HP:0002893	Pituitary adenoma
1027	CDKN1B	HP:0002890	Thyroid carcinoma
1027	CDKN1B	HP:0002888	Ependymoma
1027	CDKN1B	HP:0002858	Meningioma
1027	CDKN1B	HP:0012334	Extrahepatic cholestasis
1027	CDKN1B	HP:0011151	Atypical absence status epilepticus
1027	CDKN1B	HP:0006744	Adrenocortical carcinoma
1027	CDKN1B	HP:0030405	Pancreatic endocrine tumor
1027	CDKN1B	HP:0030404	Glucagonoma
1027	CDKN1B	HP:0006723	Intestinal carcinoid
1027	CDKN1B	HP:0030445	Pulmonary carcinoid tumor
1027	CDKN1B	HP:0006780	Parathyroid carcinoma
1027	CDKN1B	HP:0006772	Renal angiomyolipoma
1027	CDKN1B	HP:0006767	Pituitary prolactin cell adenoma
1027	CDKN1B	HP:0001824	Weight loss
1028	CDKN1C	HP:0001159	Syndactyly
1028	CDKN1C	HP:0001270	Motor delay
1028	CDKN1C	HP:0001252	Hypotonia
1028	CDKN1C	HP:0001263	Global developmental delay
1028	CDKN1C	HP:0008734	Decreased testicular size
1028	CDKN1C	HP:0000076	Vesicoureteral reflux
1028	CDKN1C	HP:0000078	Abnormality of the genital system
1028	CDKN1C	HP:0000045	Abnormality of the scrotum
1028	CDKN1C	HP:0000054	Micropenis
1028	CDKN1C	HP:0000048	Bifid scrotum
1028	CDKN1C	HP:0000047	Hypospadias
1028	CDKN1C	HP:0000023	Inguinal hernia
1028	CDKN1C	HP:0001363	Craniosynostosis
1028	CDKN1C	HP:0000028	Cryptorchidism
1028	CDKN1C	HP:0008897	Postnatal growth retardation
1028	CDKN1C	HP:0008872	Feeding difficulties in infancy
1028	CDKN1C	HP:0002656	Epiphyseal dysplasia
1028	CDKN1C	HP:0002667	Nephroblastoma
1028	CDKN1C	HP:0000006	Autosomal dominant inheritance
1028	CDKN1C	HP:0001305	Dandy-Walker malformation
1028	CDKN1C	HP:0000158	Macroglossia
1028	CDKN1C	HP:0000175	Cleft palate
1028	CDKN1C	HP:0000135	Hypogonadism
1028	CDKN1C	HP:0000150	Gonadoblastoma
1028	CDKN1C	HP:0006277	Pancreatic hyperplasia
1028	CDKN1C	HP:0006266	Small placenta
1028	CDKN1C	HP:0000121	Nephrocalcinosis
1028	CDKN1C	HP:0000126	Hydronephrosis
1028	CDKN1C	HP:0000105	Enlarged kidney
1028	CDKN1C	HP:0002750	Delayed skeletal maturation
1028	CDKN1C	HP:0002007	Frontal bossing
1028	CDKN1C	HP:0011800	Midface retrusion
1028	CDKN1C	HP:0002099	Asthma
1028	CDKN1C	HP:0100555	Asymmetric growth
1028	CDKN1C	HP:0010442	Polydactyly
1028	CDKN1C	HP:0008186	Adrenocortical cytomegaly
1028	CDKN1C	HP:0002150	Hypercalciuria
1028	CDKN1C	HP:0002240	Hepatomegaly
1028	CDKN1C	HP:0007018	Attention deficit hyperactivity disorder
1028	CDKN1C	HP:0001052	Nevus flammeus
1028	CDKN1C	HP:0008523	Posterior helix pit
1028	CDKN1C	HP:0100607	Dysmenorrhea
1028	CDKN1C	HP:0032165	Placental mesenchymal dysplasia
1028	CDKN1C	HP:0004209	Clinodactyly of the 5th finger
1028	CDKN1C	HP:0001943	Hypoglycemia
1028	CDKN1C	HP:0001998	Neonatal hypoglycemia
1028	CDKN1C	HP:0004322	Short stature
1028	CDKN1C	HP:0005616	Accelerated skeletal maturation
1028	CDKN1C	HP:0003072	Hypercalcemia
1028	CDKN1C	HP:0000803	Renal cortical cysts
1028	CDKN1C	HP:0000750	Delayed speech and language development
1028	CDKN1C	HP:0000787	Nephrolithiasis
1028	CDKN1C	HP:0003196	Short nose
1028	CDKN1C	HP:0004482	Relative macrocephaly
1028	CDKN1C	HP:0000835	Adrenal hypoplasia
1028	CDKN1C	HP:0000821	Hypothyroidism
1028	CDKN1C	HP:0000824	Decreased response to growth hormone stimulation test
1028	CDKN1C	HP:0009237	Short 5th finger
1028	CDKN1C	HP:0003247	Overgrowth of external genitalia
1028	CDKN1C	HP:0100255	Metaphyseal dysplasia
1028	CDKN1C	HP:0100257	Ectrodactyly
1028	CDKN1C	HP:0000957	Cafe-au-lait spot
1028	CDKN1C	HP:0000938	Osteopenia
1028	CDKN1C	HP:0000280	Coarse facial features
1028	CDKN1C	HP:0000256	Macrocephaly
1028	CDKN1C	HP:0000269	Prominent occiput
1028	CDKN1C	HP:0000239	Large fontanelles
1028	CDKN1C	HP:0002884	Hepatoblastoma
1028	CDKN1C	HP:0001548	Overgrowth
1028	CDKN1C	HP:0001562	Oligohydramnios
1028	CDKN1C	HP:0001528	Hemihypertrophy
1028	CDKN1C	HP:0001540	Diastasis recti
1028	CDKN1C	HP:0001539	Omphalocele
1028	CDKN1C	HP:0001518	Small for gestational age
1028	CDKN1C	HP:0001511	Intrauterine growth retardation
1028	CDKN1C	HP:0000369	Low-set ears
1028	CDKN1C	HP:0000347	Micrognathia
1028	CDKN1C	HP:0002983	Micromelia
1028	CDKN1C	HP:0000325	Triangular face
1028	CDKN1C	HP:0001626	Abnormality of the cardiovascular system
1028	CDKN1C	HP:0001640	Cardiomegaly
1028	CDKN1C	HP:0001638	Cardiomyopathy
1028	CDKN1C	HP:0005280	Depressed nasal bridge
1028	CDKN1C	HP:0030260	Microphallus
1028	CDKN1C	HP:0006744	Adrenocortical carcinoma
1028	CDKN1C	HP:0005487	Prominent metopic ridge
1028	CDKN1C	HP:0000520	Proptosis
1028	CDKN1C	HP:0001804	Hypoplastic fingernail
1028	CDKN1C	HP:0011220	Prominent forehead
1029	CDKN2A	HP:0025134	Increased serum estradiol
1029	CDKN2A	HP:0003764	Nevus
1029	CDKN2A	HP:0025269	Panic attack
1029	CDKN2A	HP:0007378	Neoplasm of the gastrointestinal tract
1029	CDKN2A	HP:0000080	Abnormality of reproductive system physiology
1029	CDKN2A	HP:0025380	Increased circulating androstenedione concentration
1029	CDKN2A	HP:0012056	Cutaneous melanoma
1029	CDKN2A	HP:0012030	Increased urinary cortisol level
1029	CDKN2A	HP:0025318	Ovarian carcinoma
1029	CDKN2A	HP:0002664	Neoplasm
1029	CDKN2A	HP:0001324	Muscle weakness
1029	CDKN2A	HP:0002669	Osteosarcoma
1029	CDKN2A	HP:0002665	Lymphoma
1029	CDKN2A	HP:0000006	Autosomal dominant inheritance
1029	CDKN2A	HP:0012189	Hodgkin lymphoma
1029	CDKN2A	HP:0012182	Oropharyngeal squamous cell carcinoma
1029	CDKN2A	HP:0012174	Glioblastoma multiforme
1029	CDKN2A	HP:0012142	Pancreatic squamous cell carcinoma
1029	CDKN2A	HP:0012125	Prostate cancer
1029	CDKN2A	HP:0012126	Stomach cancer
1029	CDKN2A	HP:0025436	Elevated serum 11-deoxycortisol
1029	CDKN2A	HP:0001480	Freckling
1029	CDKN2A	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
1029	CDKN2A	HP:0001433	Hepatosplenomegaly
1029	CDKN2A	HP:0002716	Lymphadenopathy
1029	CDKN2A	HP:0002017	Nausea and vomiting
1029	CDKN2A	HP:0002027	Abdominal pain
1029	CDKN2A	HP:0100526	Neoplasm of the lung
1029	CDKN2A	HP:0002071	Abnormality of extrapyramidal motor function
1029	CDKN2A	HP:0002039	Anorexia
1029	CDKN2A	HP:0011748	Adrenocorticotropic hormone deficiency
1029	CDKN2A	HP:0100592	Peritoneal abscess
1029	CDKN2A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
1029	CDKN2A	HP:0003418	Back pain
1029	CDKN2A	HP:0009592	Astrocytoma
1029	CDKN2A	HP:0002254	Intermittent diarrhea
1029	CDKN2A	HP:0100763	Abnormality of the lymphatic system
1029	CDKN2A	HP:0100768	Choriocarcinoma
1029	CDKN2A	HP:0009726	Renal neoplasm
1029	CDKN2A	HP:0100743	Neoplasm of the rectum
1029	CDKN2A	HP:0004808	Acute myeloid leukemia
1029	CDKN2A	HP:0001065	Striae distensae
1029	CDKN2A	HP:0100605	Neoplasm of the larynx
1029	CDKN2A	HP:0200063	Colorectal polyposis
1029	CDKN2A	HP:0100615	Ovarian neoplasm
1029	CDKN2A	HP:0010788	Testicular neoplasm
1029	CDKN2A	HP:0001962	Palpitations
1029	CDKN2A	HP:0001939	Abnormality of metabolism/homeostasis
1029	CDKN2A	HP:0001909	Leukemia
1029	CDKN2A	HP:0004324	Increased body weight
1029	CDKN2A	HP:0003002	Breast carcinoma
1029	CDKN2A	HP:0003003	Colon cancer
1029	CDKN2A	HP:0004389	Intestinal pseudo-obstruction
1029	CDKN2A	HP:0004396	Poor appetite
1029	CDKN2A	HP:0100013	Neoplasm of the breast
1029	CDKN2A	HP:0100006	Neoplasm of the central nervous system
1029	CDKN2A	HP:0000737	Irritability
1029	CDKN2A	HP:0000739	Anxiety
1029	CDKN2A	HP:0003110	Abnormality of urine homeostasis
1029	CDKN2A	HP:0003118	Increased circulating cortisol level
1029	CDKN2A	HP:0000859	Hyperaldosteronism
1029	CDKN2A	HP:0000819	Diabetes mellitus
1029	CDKN2A	HP:0000822	Hypertension
1029	CDKN2A	HP:0000998	Hypertrichosis
1029	CDKN2A	HP:0000975	Hyperhidrosis
1029	CDKN2A	HP:0000958	Dry skin
1029	CDKN2A	HP:0000952	Jaundice
1029	CDKN2A	HP:0100242	Sarcoma
1029	CDKN2A	HP:0012288	Neoplasm of head and neck
1029	CDKN2A	HP:0001595	Abnormal hair morphology
1029	CDKN2A	HP:0030070	Central primitive neuroectodermal tumor
1029	CDKN2A	HP:0030078	Lung adenocarcinoma
1029	CDKN2A	HP:0002896	Neoplasm of the liver
1029	CDKN2A	HP:0002894	Neoplasm of the pancreas
1029	CDKN2A	HP:0002890	Thyroid carcinoma
1029	CDKN2A	HP:0002888	Ependymoma
1029	CDKN2A	HP:0002885	Medulloblastoma
1029	CDKN2A	HP:0002861	Melanoma
1029	CDKN2A	HP:0002860	Squamous cell carcinoma
1029	CDKN2A	HP:0002859	Rhabdomyosarcoma
1029	CDKN2A	HP:0002863	Myelodysplasia
1029	CDKN2A	HP:0005249	Functional intestinal obstruction
1029	CDKN2A	HP:0002910	Elevated hepatic transaminase
1029	CDKN2A	HP:0002900	Hypokalemia
1029	CDKN2A	HP:0012334	Extrahepatic cholestasis
1029	CDKN2A	HP:0001738	Exocrine pancreatic insufficiency
1029	CDKN2A	HP:0000488	Retinopathy
1029	CDKN2A	HP:0012432	Chronic fatigue
1029	CDKN2A	HP:0006753	Neoplasm of the stomach
1029	CDKN2A	HP:0006744	Adrenocortical carcinoma
1029	CDKN2A	HP:0006725	Pancreatic adenocarcinoma
1029	CDKN2A	HP:0006721	Acute lymphoblastic leukemia
1029	CDKN2A	HP:0001824	Weight loss
1029	CDKN2A	HP:0030348	Increased circulating androgen concentration
1029	CDKN2A	HP:0012539	Non-Hodgkin lymphoma
1029	CDKN2A	HP:0030392	Choroid plexus carcinoma
1030	CDKN2B	HP:0500167	Hypergastrinemia
1030	CDKN2B	HP:0003764	Nevus
1030	CDKN2B	HP:0001293	Cranial nerve compression
1030	CDKN2B	HP:0100829	Galactorrhea
1030	CDKN2B	HP:0001289	Confusion
1030	CDKN2B	HP:0001254	Lethargy
1030	CDKN2B	HP:0002588	Duodenal ulcer
1030	CDKN2B	HP:0001259	Coma
1030	CDKN2B	HP:0007449	Confetti-like hypopigmented macules
1030	CDKN2B	HP:0031058	Impairment of activities of daily living
1030	CDKN2B	HP:0002659	Increased susceptibility to fractures
1030	CDKN2B	HP:0002666	Pheochromocytoma
1030	CDKN2B	HP:0012197	Insulinoma
1030	CDKN2B	HP:0000169	Gingival fibromatosis
1030	CDKN2B	HP:0000141	Amenorrhea
1030	CDKN2B	HP:0002797	Osteolysis
1030	CDKN2B	HP:0001480	Freckling
1030	CDKN2B	HP:0002020	Gastroesophageal reflux
1030	CDKN2B	HP:0002018	Nausea
1030	CDKN2B	HP:0002019	Constipation
1030	CDKN2B	HP:0002027	Abdominal pain
1030	CDKN2B	HP:0040306	Decreased male libido
1030	CDKN2B	HP:0002014	Diarrhea
1030	CDKN2B	HP:0002013	Vomiting
1030	CDKN2B	HP:0100522	Thymoma
1030	CDKN2B	HP:0002071	Abnormality of extrapyramidal motor function
1030	CDKN2B	HP:0002044	Zollinger-Ellison syndrome
1030	CDKN2B	HP:0002039	Anorexia
1030	CDKN2B	HP:0011762	Pituitary thyrotropic cell adenoma
1030	CDKN2B	HP:0011759	Pituitary gonadotropic cell adenoma
1030	CDKN2B	HP:0011760	Pituitary growth hormone cell adenoma
1030	CDKN2B	HP:0011761	Pituitary null cell adenoma
1030	CDKN2B	HP:0100570	Carcinoid tumor
1030	CDKN2B	HP:0002150	Hypercalciuria
1030	CDKN2B	HP:0008200	Primary hyperparathyroidism
1030	CDKN2B	HP:0008208	Parathyroid hyperplasia
1030	CDKN2B	HP:0008291	Pituitary corticotropic cell adenoma
1030	CDKN2B	HP:0002249	Melena
1030	CDKN2B	HP:0002248	Hematemesis
1030	CDKN2B	HP:0003528	Elevated calcitonin
1030	CDKN2B	HP:0100763	Abnormality of the lymphatic system
1030	CDKN2B	HP:0032044	Decreased vigilance
1030	CDKN2B	HP:0010615	Angiofibromas
1030	CDKN2B	HP:0001012	Multiple lipomas
1030	CDKN2B	HP:0002315	Headache
1030	CDKN2B	HP:0001944	Dehydration
1030	CDKN2B	HP:0005605	Large cafe-au-lait macules with irregular margins
1030	CDKN2B	HP:0003072	Hypercalcemia
1030	CDKN2B	HP:0000802	Impotence
1030	CDKN2B	HP:0004398	Peptic ulcer
1030	CDKN2B	HP:0004349	Reduced bone mineral density
1030	CDKN2B	HP:0100013	Neoplasm of the breast
1030	CDKN2B	HP:0011407	Proportionate tall stature
1030	CDKN2B	HP:0000736	Short attention span
1030	CDKN2B	HP:0000716	Depression
1030	CDKN2B	HP:0000787	Nephrolithiasis
1030	CDKN2B	HP:0003118	Increased circulating cortisol level
1030	CDKN2B	HP:0003144	Increased serum serotonin
1030	CDKN2B	HP:0000853	Goiter
1030	CDKN2B	HP:0000849	Adrenocortical abnormality
1030	CDKN2B	HP:0000845	Elevated circulating growth hormone concentration
1030	CDKN2B	HP:0000822	Hypertension
1030	CDKN2B	HP:0040085	Abnormal circulating aldosterone
1030	CDKN2B	HP:0000958	Dry skin
1030	CDKN2B	HP:0001595	Abnormal hair morphology
1030	CDKN2B	HP:0012232	Shortened QT interval
1030	CDKN2B	HP:0001579	Primary hypercortisolism
1030	CDKN2B	HP:0002894	Neoplasm of the pancreas
1030	CDKN2B	HP:0002893	Pituitary adenoma
1030	CDKN2B	HP:0002890	Thyroid carcinoma
1030	CDKN2B	HP:0002888	Ependymoma
1030	CDKN2B	HP:0002861	Melanoma
1030	CDKN2B	HP:0002858	Meningioma
1030	CDKN2B	HP:0011151	Atypical absence status epilepticus
1030	CDKN2B	HP:0000488	Retinopathy
1030	CDKN2B	HP:0006753	Neoplasm of the stomach
1030	CDKN2B	HP:0006744	Adrenocortical carcinoma
1030	CDKN2B	HP:0030405	Pancreatic endocrine tumor
1030	CDKN2B	HP:0030404	Glucagonoma
1030	CDKN2B	HP:0006723	Intestinal carcinoid
1030	CDKN2B	HP:0030445	Pulmonary carcinoid tumor
1030	CDKN2B	HP:0006780	Parathyroid carcinoma
1030	CDKN2B	HP:0006767	Pituitary prolactin cell adenoma
1030	CDKN2B	HP:0001824	Weight loss
1031	CDKN2C	HP:0500167	Hypergastrinemia
1031	CDKN2C	HP:0001293	Cranial nerve compression
1031	CDKN2C	HP:0100829	Galactorrhea
1031	CDKN2C	HP:0001289	Confusion
1031	CDKN2C	HP:0001254	Lethargy
1031	CDKN2C	HP:0002588	Duodenal ulcer
1031	CDKN2C	HP:0001259	Coma
1031	CDKN2C	HP:0007449	Confetti-like hypopigmented macules
1031	CDKN2C	HP:0031058	Impairment of activities of daily living
1031	CDKN2C	HP:0002659	Increased susceptibility to fractures
1031	CDKN2C	HP:0002666	Pheochromocytoma
1031	CDKN2C	HP:0012197	Insulinoma
1031	CDKN2C	HP:0000169	Gingival fibromatosis
1031	CDKN2C	HP:0000141	Amenorrhea
1031	CDKN2C	HP:0002797	Osteolysis
1031	CDKN2C	HP:0002020	Gastroesophageal reflux
1031	CDKN2C	HP:0002018	Nausea
1031	CDKN2C	HP:0002019	Constipation
1031	CDKN2C	HP:0002027	Abdominal pain
1031	CDKN2C	HP:0040306	Decreased male libido
1031	CDKN2C	HP:0002014	Diarrhea
1031	CDKN2C	HP:0002013	Vomiting
1031	CDKN2C	HP:0100522	Thymoma
1031	CDKN2C	HP:0002044	Zollinger-Ellison syndrome
1031	CDKN2C	HP:0002039	Anorexia
1031	CDKN2C	HP:0011762	Pituitary thyrotropic cell adenoma
1031	CDKN2C	HP:0011759	Pituitary gonadotropic cell adenoma
1031	CDKN2C	HP:0011760	Pituitary growth hormone cell adenoma
1031	CDKN2C	HP:0011761	Pituitary null cell adenoma
1031	CDKN2C	HP:0100570	Carcinoid tumor
1031	CDKN2C	HP:0002150	Hypercalciuria
1031	CDKN2C	HP:0008200	Primary hyperparathyroidism
1031	CDKN2C	HP:0008208	Parathyroid hyperplasia
1031	CDKN2C	HP:0008291	Pituitary corticotropic cell adenoma
1031	CDKN2C	HP:0002249	Melena
1031	CDKN2C	HP:0002248	Hematemesis
1031	CDKN2C	HP:0003528	Elevated calcitonin
1031	CDKN2C	HP:0032044	Decreased vigilance
1031	CDKN2C	HP:0010615	Angiofibromas
1031	CDKN2C	HP:0001012	Multiple lipomas
1031	CDKN2C	HP:0002315	Headache
1031	CDKN2C	HP:0001944	Dehydration
1031	CDKN2C	HP:0005605	Large cafe-au-lait macules with irregular margins
1031	CDKN2C	HP:0003072	Hypercalcemia
1031	CDKN2C	HP:0000802	Impotence
1031	CDKN2C	HP:0004398	Peptic ulcer
1031	CDKN2C	HP:0004349	Reduced bone mineral density
1031	CDKN2C	HP:0011407	Proportionate tall stature
1031	CDKN2C	HP:0000736	Short attention span
1031	CDKN2C	HP:0000716	Depression
1031	CDKN2C	HP:0000787	Nephrolithiasis
1031	CDKN2C	HP:0003118	Increased circulating cortisol level
1031	CDKN2C	HP:0003144	Increased serum serotonin
1031	CDKN2C	HP:0000853	Goiter
1031	CDKN2C	HP:0000849	Adrenocortical abnormality
1031	CDKN2C	HP:0000845	Elevated circulating growth hormone concentration
1031	CDKN2C	HP:0000822	Hypertension
1031	CDKN2C	HP:0040085	Abnormal circulating aldosterone
1031	CDKN2C	HP:0012232	Shortened QT interval
1031	CDKN2C	HP:0001579	Primary hypercortisolism
1031	CDKN2C	HP:0002894	Neoplasm of the pancreas
1031	CDKN2C	HP:0002893	Pituitary adenoma
1031	CDKN2C	HP:0002890	Thyroid carcinoma
1031	CDKN2C	HP:0002888	Ependymoma
1031	CDKN2C	HP:0002858	Meningioma
1031	CDKN2C	HP:0011151	Atypical absence status epilepticus
1031	CDKN2C	HP:0006744	Adrenocortical carcinoma
1031	CDKN2C	HP:0030405	Pancreatic endocrine tumor
1031	CDKN2C	HP:0030404	Glucagonoma
1031	CDKN2C	HP:0006723	Intestinal carcinoid
1031	CDKN2C	HP:0030445	Pulmonary carcinoid tumor
1031	CDKN2C	HP:0006780	Parathyroid carcinoma
1031	CDKN2C	HP:0006767	Pituitary prolactin cell adenoma
1031	CDKN2C	HP:0001824	Weight loss
1041	CDSN	HP:0007410	Palmoplantar hyperhidrosis
1041	CDSN	HP:0002550	Absent facial hair
1041	CDSN	HP:0007550	Hypohidrosis or hyperhidrosis
1041	CDSN	HP:0000007	Autosomal recessive inheritance
1041	CDSN	HP:0000006	Autosomal dominant inheritance
1041	CDSN	HP:0000164	Abnormality of the dentition
1041	CDSN	HP:0002099	Asthma
1041	CDSN	HP:0002213	Fine hair
1041	CDSN	HP:0002209	Sparse scalp hair
1041	CDSN	HP:0008404	Nail dystrophy
1041	CDSN	HP:0002299	Brittle hair
1041	CDSN	HP:0002293	Alopecia of scalp
1041	CDSN	HP:0001036	Parakeratosis
1041	CDSN	HP:0001047	Atopic dermatitis
1041	CDSN	HP:0001019	Erythroderma
1041	CDSN	HP:0025092	Epidermal acanthosis
1041	CDSN	HP:0003623	Neonatal onset
1041	CDSN	HP:0100134	Abnormality of the axillary hair
1041	CDSN	HP:0100133	Abnormality of the pubic hair
1041	CDSN	HP:0004322	Short stature
1041	CDSN	HP:0100038	Slow-growing scalp hair
1041	CDSN	HP:0003193	Allergic rhinitis
1041	CDSN	HP:0003212	Increased circulating IgE level
1041	CDSN	HP:0004528	Generalized hypotrichosis
1041	CDSN	HP:0000989	Pruritus
1041	CDSN	HP:0000962	Hyperkeratosis
1041	CDSN	HP:0040189	Scaling skin
1041	CDSN	HP:0001597	Abnormality of the nail
1041	CDSN	HP:0000499	Abnormal eyelash morphology
1041	CDSN	HP:0001806	Onycholysis
1041	CDSN	HP:0000534	Abnormal eyebrow morphology
1041	CDSN	HP:0001880	Eosinophilia
1050	CEBPA	HP:0000006	Autosomal dominant inheritance
1050	CEBPA	HP:0001428	Somatic mutation
1050	CEBPA	HP:0004808	Acute myeloid leukemia
1053	CEBPE	HP:0000007	Autosomal recessive inheritance
1053	CEBPE	HP:0002718	Recurrent bacterial infections
1053	CEBPE	HP:0002722	Recurrent abscess formation
1053	CEBPE	HP:0002027	Abdominal pain
1053	CEBPE	HP:0011993	Impaired neutrophil bactericidal activity
1053	CEBPE	HP:0011991	Abnormal neutrophil count
1053	CEBPE	HP:0003621	Juvenile onset
1053	CEBPE	HP:0001954	Recurrent fever
1053	CEBPE	HP:0011447	Hyposegmentation of neutrophil nuclei
1053	CEBPE	HP:0040238	Impaired neutrophil chemotaxis
1053	CEBPE	HP:0011107	Recurrent aphthous stomatitis
1053	CEBPE	HP:0025708	Early young adult onset
1053	CEBPE	HP:0000421	Epistaxis
1053	CEBPE	HP:0001818	Paronychia
1053	CEBPE	HP:0012551	Absent neutrophil specific granules
1053	CEBPE	HP:0041042	Absent neutrophil lactoferrin
1053	CEBPE	HP:0041043	Neutrophil nuclear clefts
1053	CEBPE	HP:0041046	Increased neutrophil ribosomes
1053	CEBPE	HP:0041044	Low neutrophil alkaline phosphatase
1053	CEBPE	HP:0041045	Increased neutrophil mitochondria
1056	CEL	HP:0002594	Pancreatic hypoplasia
1056	CEL	HP:0000077	Abnormality of the kidney
1056	CEL	HP:0012028	Hepatocellular adenoma
1056	CEL	HP:0000006	Autosomal dominant inheritance
1056	CEL	HP:0000119	Abnormality of the genitourinary system
1056	CEL	HP:0000112	Nephropathy
1056	CEL	HP:0000107	Renal cyst
1056	CEL	HP:0002027	Abdominal pain
1056	CEL	HP:0008255	Transient neonatal diabetes mellitus
1056	CEL	HP:0004924	Abnormal oral glucose tolerance
1056	CEL	HP:0004904	Maturity-onset diabetes of the young
1056	CEL	HP:0001953	Diabetic ketoacidosis
1056	CEL	HP:0001952	Glucose intolerance
1056	CEL	HP:0001998	Neonatal hypoglycemia
1056	CEL	HP:0003076	Glycosuria
1056	CEL	HP:0003074	Hyperglycemia
1056	CEL	HP:0011462	Young adult onset
1056	CEL	HP:0030794	Abnormal circulating C-peptide concentration
1056	CEL	HP:0000831	Insulin-resistant diabetes mellitus
1056	CEL	HP:0000825	Hyperinsulinemic hypoglycemia
1056	CEL	HP:0040214	Abnormal circulating insulin concentration
1056	CEL	HP:0040217	Elevated hemoglobin A1c
1056	CEL	HP:0040216	Hypoinsulinemia
1056	CEL	HP:0000956	Acanthosis nigricans
1056	CEL	HP:0030057	Autoimmune antibody positivity
1056	CEL	HP:0025502	Overweight
1056	CEL	HP:0001520	Large for gestational age
1056	CEL	HP:0001511	Intrauterine growth retardation
1056	CEL	HP:0001513	Obesity
1056	CEL	HP:0001738	Exocrine pancreatic insufficiency
1056	CEL	HP:0000488	Retinopathy
1062	CENPE	HP:0009879	Simplified gyral pattern
1062	CENPE	HP:0001249	Intellectual disability
1062	CENPE	HP:0001263	Global developmental delay
1062	CENPE	HP:0001385	Hip dysplasia
1062	CENPE	HP:0001363	Craniosynostosis
1062	CENPE	HP:0007495	Prematurely aged appearance
1062	CENPE	HP:0001338	Partial agenesis of the corpus callosum
1062	CENPE	HP:0000007	Autosomal recessive inheritance
1062	CENPE	HP:0002650	Scoliosis
1062	CENPE	HP:0001321	Cerebellar hypoplasia
1062	CENPE	HP:0002750	Delayed skeletal maturation
1062	CENPE	HP:0100543	Cognitive impairment
1062	CENPE	HP:0010579	Cone-shaped epiphysis
1062	CENPE	HP:0002209	Sparse scalp hair
1062	CENPE	HP:0004979	Metaphyseal sclerosis
1062	CENPE	HP:0009804	Tooth agenesis
1062	CENPE	HP:0200055	Small hand
1062	CENPE	HP:0004209	Clinodactyly of the 5th finger
1062	CENPE	HP:0000639	Nystagmus
1062	CENPE	HP:0000682	Abnormal dental enamel morphology
1062	CENPE	HP:0011342	Mild global developmental delay
1062	CENPE	HP:0004322	Short stature
1062	CENPE	HP:0004326	Cachexia
1062	CENPE	HP:0005692	Joint hyperflexibility
1062	CENPE	HP:0011461	Fetal onset
1062	CENPE	HP:0011451	Primary microcephaly
1062	CENPE	HP:0000275	Narrow face
1062	CENPE	HP:0000252	Microcephaly
1062	CENPE	HP:0001518	Small for gestational age
1062	CENPE	HP:0001511	Intrauterine growth retardation
1062	CENPE	HP:0000387	Absent earlobe
1062	CENPE	HP:0001607	Subglottic stenosis
1062	CENPE	HP:0000363	Abnormal earlobe morphology
1062	CENPE	HP:0000340	Sloping forehead
1062	CENPE	HP:0032792	Tonic seizure
1062	CENPE	HP:0000347	Micrognathia
1062	CENPE	HP:0000311	Round face
1062	CENPE	HP:0001723	Restrictive cardiomyopathy
1062	CENPE	HP:0000400	Macrotia
1062	CENPE	HP:0000494	Downslanted palpebral fissures
1062	CENPE	HP:0001773	Short foot
1062	CENPE	HP:0000448	Prominent nose
1062	CENPE	HP:0000444	Convex nasal ridge
1062	CENPE	HP:0001852	Sandal gap
1062	CENPE	HP:0000501	Glaucoma
1063	CENPF	HP:0001274	Agenesis of corpus callosum
1063	CENPF	HP:0002566	Intestinal malrotation
1063	CENPF	HP:0003826	Stillbirth
1063	CENPF	HP:0000007	Autosomal recessive inheritance
1063	CENPF	HP:0001320	Cerebellar vermis hypoplasia
1063	CENPF	HP:0001321	Cerebellar hypoplasia
1063	CENPF	HP:0000175	Cleft palate
1063	CENPF	HP:0000154	Wide mouth
1063	CENPF	HP:0000126	Hydronephrosis
1063	CENPF	HP:0002000	Short columella
1063	CENPF	HP:0003577	Congenital onset
1063	CENPF	HP:0002247	Duodenal atresia
1063	CENPF	HP:0000647	Sclerocornea
1063	CENPF	HP:0000612	Iris coloboma
1063	CENPF	HP:0000609	Optic nerve hypoplasia
1063	CENPF	HP:0000659	Peters anomaly
1063	CENPF	HP:0003198	Myopathy
1063	CENPF	HP:0012841	Retinal vascular tortuosity
1063	CENPF	HP:0100258	Preaxial polydactyly
1063	CENPF	HP:0000238	Hydrocephalus
1063	CENPF	HP:0000252	Microcephaly
1063	CENPF	HP:0005235	Jejunal atresia
1063	CENPF	HP:0000369	Low-set ears
1063	CENPF	HP:0000347	Micrognathia
1063	CENPF	HP:0000316	Hypertelorism
1063	CENPF	HP:0000482	Microcornea
1063	CENPF	HP:0000490	Deeply set eye
1063	CENPF	HP:0001747	Accessory spleen
1063	CENPF	HP:0000431	Wide nasal bridge
1063	CENPF	HP:0000426	Prominent nasal bridge
1063	CENPF	HP:0000518	Cataract
1063	CENPF	HP:0012584	Bilateral renal hypoplasia
1063	CENPF	HP:0000568	Microphthalmia
1066	CES1	HP:0000006	Autosomal dominant inheritance
1066	CES1	HP:0020169	Abnormal drug response
1071	CETP	HP:0010874	Tendon xanthomatosis
1071	CETP	HP:0010980	Hyperlipoproteinemia
1071	CETP	HP:0000006	Autosomal dominant inheritance
1071	CETP	HP:0012184	Increased HDL cholesterol concentration
1071	CETP	HP:0012153	Hypotriglyceridemia
1071	CETP	HP:0003077	Hyperlipidemia
1071	CETP	HP:0003124	Hypercholesterolemia
1071	CETP	HP:0004416	Precocious atherosclerosis
1073	CFL2	HP:0003789	Minicore myopathy
1073	CFL2	HP:0003798	Nemaline bodies
1073	CFL2	HP:0003722	Neck flexor weakness
1073	CFL2	HP:0001288	Gait disturbance
1073	CFL2	HP:0001284	Areflexia
1073	CFL2	HP:0001252	Hypotonia
1073	CFL2	HP:0001265	Hyporeflexia
1073	CFL2	HP:0002515	Waddling gait
1073	CFL2	HP:0003803	Type 1 muscle fiber predominance
1073	CFL2	HP:0001371	Flexion contracture
1073	CFL2	HP:0001349	Facial diplegia
1073	CFL2	HP:0001324	Muscle weakness
1073	CFL2	HP:0000007	Autosomal recessive inheritance
1073	CFL2	HP:0002650	Scoliosis
1073	CFL2	HP:0001319	Neonatal hypotonia
1073	CFL2	HP:0002751	Kyphoscoliosis
1073	CFL2	HP:0002747	Respiratory insufficiency due to muscle weakness
1073	CFL2	HP:0003327	Axial muscle weakness
1073	CFL2	HP:0003325	Limb-girdle muscle weakness
1073	CFL2	HP:0003307	Hyperlordosis
1073	CFL2	HP:0003306	Spinal rigidity
1073	CFL2	HP:0002093	Respiratory insufficiency
1073	CFL2	HP:0003391	Gowers sign
1073	CFL2	HP:0002194	Delayed gross motor development
1073	CFL2	HP:0010546	Muscle fibrillation
1073	CFL2	HP:0003577	Congenital onset
1073	CFL2	HP:0003547	Shoulder girdle muscle weakness
1073	CFL2	HP:0003557	Increased variability in muscle fiber diameter
1073	CFL2	HP:0011968	Feeding difficulties
1073	CFL2	HP:0010628	Facial palsy
1073	CFL2	HP:0003690	Limb muscle weakness
1073	CFL2	HP:0002359	Frequent falls
1073	CFL2	HP:0002375	Hypokinesia
1073	CFL2	HP:0003677	Slowly progressive
1073	CFL2	HP:0009027	Foot dorsiflexor weakness
1073	CFL2	HP:0031936	Delayed ability to walk
1073	CFL2	HP:0000767	Pectus excavatum
1073	CFL2	HP:0011463	Childhood onset
1073	CFL2	HP:0000774	Narrow chest
1073	CFL2	HP:0003198	Myopathy
1073	CFL2	HP:0003236	Elevated circulating creatine kinase concentration
1073	CFL2	HP:0000275	Narrow face
1073	CFL2	HP:0002816	Genu recurvatum
1073	CFL2	HP:0002827	Hip dislocation
1073	CFL2	HP:0002808	Kyphosis
1073	CFL2	HP:0002804	Arthrogryposis multiplex congenita
1073	CFL2	HP:0006380	Knee flexion contracture
1073	CFL2	HP:0000218	High palate
1073	CFL2	HP:0002877	Nocturnal hypoventilation
1073	CFL2	HP:0001561	Polyhydramnios
1073	CFL2	HP:0002857	Genu valgum
1073	CFL2	HP:0030200	Fatiguable weakness of proximal limb muscles
1073	CFL2	HP:0002938	Lumbar hyperlordosis
1073	CFL2	HP:0030196	Fatigable weakness of respiratory muscles
1073	CFL2	HP:0030198	Fatigable weakness of distal limb muscles
1073	CFL2	HP:0000347	Micrognathia
1073	CFL2	HP:0001623	Breech presentation
1073	CFL2	HP:0002970	Genu varum
1073	CFL2	HP:0030319	Weakness of facial musculature
1073	CFL2	HP:0000470	Short neck
1073	CFL2	HP:0000467	Neck muscle weakness
1073	CFL2	HP:0001763	Pes planus
1073	CFL2	HP:0000508	Ptosis
1073	CFL2	HP:0012548	Fatty replacement of skeletal muscle
1075	CTSC	HP:0001166	Arachnodactyly
1075	CTSC	HP:0100838	Recurrent cutaneous abscess formation
1075	CTSC	HP:0001231	Abnormal fingernail morphology
1075	CTSC	HP:0002514	Cerebral calcification
1075	CTSC	HP:0006224	Tapering pointed ends of distal finger phalanges
1075	CTSC	HP:0007545	Congenital palmoplantar hyperkeratosis
1075	CTSC	HP:0000007	Autosomal recessive inheritance
1075	CTSC	HP:0000164	Abnormality of the dentition
1075	CTSC	HP:0000166	Severe periodontitis
1075	CTSC	HP:0002797	Osteolysis
1075	CTSC	HP:0006323	Premature loss of primary teeth
1075	CTSC	HP:0006308	Atrophy of alveolar ridges
1075	CTSC	HP:0100523	Liver abscess
1075	CTSC	HP:0002230	Generalized hirsutism
1075	CTSC	HP:0002231	Sparse body hair
1075	CTSC	HP:0002205	Recurrent respiratory infections
1075	CTSC	HP:0008404	Nail dystrophy
1075	CTSC	HP:0001053	Hypopigmented skin patches
1075	CTSC	HP:0009804	Tooth agenesis
1075	CTSC	HP:0001073	Cigarette-paper scars
1075	CTSC	HP:0200039	Pustule
1075	CTSC	HP:0009771	Osteolytic defects of the phalanges of the hand
1075	CTSC	HP:0006960	Choroid plexus calcification
1075	CTSC	HP:0000704	Periodontitis
1075	CTSC	HP:0030816	Gingival recession
1075	CTSC	HP:0000998	Hypertrichosis
1075	CTSC	HP:0000972	Palmoplantar hyperkeratosis
1075	CTSC	HP:0000982	Palmoplantar keratoderma
1075	CTSC	HP:0008069	Neoplasm of the skin
1075	CTSC	HP:0001597	Abnormality of the nail
1075	CTSC	HP:0001581	Recurrent skin infections
1075	CTSC	HP:0000230	Gingivitis
1075	CTSC	HP:0002861	Melanoma
1075	CTSC	HP:0002860	Squamous cell carcinoma
1075	CTSC	HP:0006480	Premature loss of teeth
1075	CTSC	HP:0011132	Chronic furunculosis
1075	CTSC	HP:0001763	Pes planus
1075	CTSC	HP:0005406	Recurrent bacterial skin infections
1075	CTSC	HP:0001805	Onychogryposis
1080	CFTR	HP:0032261	Nontuberculous mycobacterial pulmonary infection
1080	CFTR	HP:0100812	Halitosis
1080	CFTR	HP:0002595	Ileus
1080	CFTR	HP:0002570	Steatorrhea
1080	CFTR	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers
1080	CFTR	HP:0007410	Palmoplantar hyperhidrosis
1080	CFTR	HP:0008734	Decreased testicular size
1080	CFTR	HP:0032359	Decreased forced expiratory flow 25-75%
1080	CFTR	HP:0008669	Abnormal spermatogenesis
1080	CFTR	HP:0001217	Clubbing
1080	CFTR	HP:0032341	Reduced forced vital capacity
1080	CFTR	HP:0032342	Reduced forced expiratory volume in one second
1080	CFTR	HP:0001392	Abnormality of the liver
1080	CFTR	HP:0001394	Cirrhosis
1080	CFTR	HP:0000027	Azoospermia
1080	CFTR	HP:0012092	Abnormality of exocrine pancreas physiology
1080	CFTR	HP:0000007	Autosomal recessive inheritance
1080	CFTR	HP:0000006	Autosomal dominant inheritance
1080	CFTR	HP:0002613	Biliary cirrhosis
1080	CFTR	HP:0031289	White papule
1080	CFTR	HP:0006261	Abnormal phalangeal joint morphology of the hand
1080	CFTR	HP:0002783	Recurrent lower respiratory tract infections
1080	CFTR	HP:0000118	Phenotypic abnormality
1080	CFTR	HP:0002795	Abnormal respiratory system physiology
1080	CFTR	HP:0001433	Hepatosplenomegaly
1080	CFTR	HP:0031245	Productive cough
1080	CFTR	HP:0031248	Palmar pruritus
1080	CFTR	HP:0002726	Recurrent Staphylococcus aureus infections
1080	CFTR	HP:0002724	Recurrent Aspergillus infections
1080	CFTR	HP:0002725	Systemic lupus erythematosus
1080	CFTR	HP:0002024	Malabsorption
1080	CFTR	HP:0002020	Gastroesophageal reflux
1080	CFTR	HP:0002035	Rectal prolapse
1080	CFTR	HP:0002027	Abdominal pain
1080	CFTR	HP:0002014	Diarrhea
1080	CFTR	HP:0002099	Asthma
1080	CFTR	HP:0002097	Emphysema
1080	CFTR	HP:0002094	Dyspnea
1080	CFTR	HP:0100582	Nasal polyposis
1080	CFTR	HP:0002150	Hypercalciuria
1080	CFTR	HP:0002110	Bronchiectasis
1080	CFTR	HP:0002107	Pneumothorax
1080	CFTR	HP:0002105	Hemoptysis
1080	CFTR	HP:0003593	Infantile onset
1080	CFTR	HP:0002240	Hepatomegaly
1080	CFTR	HP:0002202	Pleural effusion
1080	CFTR	HP:0002205	Recurrent respiratory infections
1080	CFTR	HP:0100749	Chest pain
1080	CFTR	HP:0100759	Clubbing of fingers
1080	CFTR	HP:0011961	Non-obstructive azoospermia
1080	CFTR	HP:0011962	Obstructive azoospermia
1080	CFTR	HP:0011947	Respiratory tract infection
1080	CFTR	HP:0011949	Acute infectious pneumonia
1080	CFTR	HP:0001047	Atopic dermatitis
1080	CFTR	HP:0200035	Skin plaque
1080	CFTR	HP:0025080	Orthokeratotic hyperkeratosis
1080	CFTR	HP:0001977	Abnormal thrombosis
1080	CFTR	HP:0001974	Leukocytosis
1080	CFTR	HP:0001944	Dehydration
1080	CFTR	HP:0001945	Fever
1080	CFTR	HP:0004326	Cachexia
1080	CFTR	HP:0100027	Recurrent pancreatitis
1080	CFTR	HP:0000739	Anxiety
1080	CFTR	HP:0000716	Depression
1080	CFTR	HP:0011463	Childhood onset
1080	CFTR	HP:0000798	Oligospermia
1080	CFTR	HP:0000787	Nephrolithiasis
1080	CFTR	HP:0004401	Meconium ileus
1080	CFTR	HP:0004469	Chronic bronchitis
1080	CFTR	HP:0000837	Increased circulating gonadotropin level
1080	CFTR	HP:0000819	Diabetes mellitus
1080	CFTR	HP:0012873	Absent vas deferens
1080	CFTR	HP:0030877	Reduced FEV1/FVC ratio
1080	CFTR	HP:0045082	Decreased body mass index
1080	CFTR	HP:0030828	Wheezing
1080	CFTR	HP:0030830	Crackles
1080	CFTR	HP:0003251	Male infertility
1080	CFTR	HP:0000982	Palmoplantar keratoderma
1080	CFTR	HP:0000952	Jaundice
1080	CFTR	HP:0000969	Edema
1080	CFTR	HP:0000939	Osteoporosis
1080	CFTR	HP:0000938	Osteopenia
1080	CFTR	HP:0012236	Elevated sweat chloride
1080	CFTR	HP:0000246	Sinusitis
1080	CFTR	HP:0012210	Abnormal renal morphology
1080	CFTR	HP:0001508	Failure to thrive
1080	CFTR	HP:0002842	Recurrent Burkholderia cepacia infections
1080	CFTR	HP:0012379	Abnormal circulating enzyme concentration or activity
1080	CFTR	HP:0005213	Pancreatic calcification
1080	CFTR	HP:0005206	Pancreatic pseudocyst
1080	CFTR	HP:0006538	Recurrent bronchopulmonary infections
1080	CFTR	HP:0006528	Chronic lung disease
1080	CFTR	HP:0006532	Recurrent pneumonia
1080	CFTR	HP:0006536	Airway obstruction
1080	CFTR	HP:0002910	Elevated hepatic transaminase
1080	CFTR	HP:0000365	Hearing impairment
1080	CFTR	HP:0001648	Cor pulmonale
1080	CFTR	HP:0001658	Myocardial infarction
1080	CFTR	HP:0005376	Recurrent Haemophilus influenzae infections
1080	CFTR	HP:0001738	Exocrine pancreatic insufficiency
1080	CFTR	HP:0001733	Pancreatitis
1080	CFTR	HP:0030247	Splanchnic vein thrombosis
1080	CFTR	HP:0011109	Chronic sinusitis
1080	CFTR	HP:0005425	Recurrent sinopulmonary infections
1080	CFTR	HP:0011227	Elevated circulating C-reactive protein concentration
1084	CEACAM3	HP:0032261	Nontuberculous mycobacterial pulmonary infection
1084	CEACAM3	HP:0002570	Steatorrhea
1084	CEACAM3	HP:0032342	Reduced forced expiratory volume in one second
1084	CEACAM3	HP:0001392	Abnormality of the liver
1084	CEACAM3	HP:0001394	Cirrhosis
1084	CEACAM3	HP:0002726	Recurrent Staphylococcus aureus infections
1084	CEACAM3	HP:0002724	Recurrent Aspergillus infections
1084	CEACAM3	HP:0002024	Malabsorption
1084	CEACAM3	HP:0002020	Gastroesophageal reflux
1084	CEACAM3	HP:0002035	Rectal prolapse
1084	CEACAM3	HP:0002099	Asthma
1084	CEACAM3	HP:0100582	Nasal polyposis
1084	CEACAM3	HP:0002110	Bronchiectasis
1084	CEACAM3	HP:0002107	Pneumothorax
1084	CEACAM3	HP:0002105	Hemoptysis
1084	CEACAM3	HP:0002205	Recurrent respiratory infections
1084	CEACAM3	HP:0000739	Anxiety
1084	CEACAM3	HP:0000716	Depression
1084	CEACAM3	HP:0000787	Nephrolithiasis
1084	CEACAM3	HP:0004401	Meconium ileus
1084	CEACAM3	HP:0012873	Absent vas deferens
1084	CEACAM3	HP:0045082	Decreased body mass index
1084	CEACAM3	HP:0000939	Osteoporosis
1084	CEACAM3	HP:0000938	Osteopenia
1084	CEACAM3	HP:0012236	Elevated sweat chloride
1084	CEACAM3	HP:0000246	Sinusitis
1084	CEACAM3	HP:0001508	Failure to thrive
1084	CEACAM3	HP:0002842	Recurrent Burkholderia cepacia infections
1084	CEACAM3	HP:0006536	Airway obstruction
1084	CEACAM3	HP:0002910	Elevated hepatic transaminase
1084	CEACAM3	HP:0000365	Hearing impairment
1084	CEACAM3	HP:0005376	Recurrent Haemophilus influenzae infections
1084	CEACAM3	HP:0001738	Exocrine pancreatic insufficiency
1103	CHAT	HP:0002421	Poor head control
1103	CHAT	HP:0003701	Proximal muscle weakness
1103	CHAT	HP:0001270	Motor delay
1103	CHAT	HP:0001283	Bulbar palsy
1103	CHAT	HP:0001284	Areflexia
1103	CHAT	HP:0001250	Seizure
1103	CHAT	HP:0001252	Hypotonia
1103	CHAT	HP:0001251	Ataxia
1103	CHAT	HP:0001249	Intellectual disability
1103	CHAT	HP:0001265	Hyporeflexia
1103	CHAT	HP:0002515	Waddling gait
1103	CHAT	HP:0001374	Congenital hip dislocation
1103	CHAT	HP:0001388	Joint laxity
1103	CHAT	HP:0000007	Autosomal recessive inheritance
1103	CHAT	HP:0025401	Staring gaze
1103	CHAT	HP:0002751	Kyphoscoliosis
1103	CHAT	HP:0002747	Respiratory insufficiency due to muscle weakness
1103	CHAT	HP:0002020	Gastroesophageal reflux
1103	CHAT	HP:0002033	Poor suck
1103	CHAT	HP:0004661	Frontalis muscle weakness
1103	CHAT	HP:0003325	Limb-girdle muscle weakness
1103	CHAT	HP:0002015	Dysphagia
1103	CHAT	HP:0003306	Spinal rigidity
1103	CHAT	HP:0003324	Generalized muscle weakness
1103	CHAT	HP:0005943	Respiratory arrest
1103	CHAT	HP:0002098	Respiratory distress
1103	CHAT	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction
1103	CHAT	HP:0003388	Easy fatigability
1103	CHAT	HP:0003473	Fatigable weakness
1103	CHAT	HP:0003458	EMG: myopathic abnormalities
1103	CHAT	HP:0003402	Decreased miniature endplate potentials
1103	CHAT	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
1103	CHAT	HP:0010536	Central sleep apnea
1103	CHAT	HP:0003577	Congenital onset
1103	CHAT	HP:0003554	Type 2 muscle fiber atrophy
1103	CHAT	HP:0004885	Episodic respiratory distress
1103	CHAT	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
1103	CHAT	HP:0002205	Recurrent respiratory infections
1103	CHAT	HP:0011968	Feeding difficulties
1103	CHAT	HP:0002392	EEG with polyspike wave complexes
1103	CHAT	HP:0003693	Distal amyotrophy
1103	CHAT	HP:0002355	Difficulty walking
1103	CHAT	HP:0008443	Neuropathic spinal arthropathy
1103	CHAT	HP:0003623	Neonatal onset
1103	CHAT	HP:0007178	Motor polyneuropathy
1103	CHAT	HP:0000639	Nystagmus
1103	CHAT	HP:0000651	Diplopia
1103	CHAT	HP:0000602	Ophthalmoplegia
1103	CHAT	HP:0009053	Distal lower limb muscle weakness
1103	CHAT	HP:0000768	Pectus carinatum
1103	CHAT	HP:0011469	Nasal regurgitation
1103	CHAT	HP:0012801	Narrow jaw
1103	CHAT	HP:0030842	Choking episodes
1103	CHAT	HP:0010307	Stridor
1103	CHAT	HP:0100285	EMG: impaired neuromuscular transmission
1103	CHAT	HP:0000961	Cyanosis
1103	CHAT	HP:0100295	Muscle fiber atrophy
1103	CHAT	HP:0000276	Long face
1103	CHAT	HP:0002804	Arthrogryposis multiplex congenita
1103	CHAT	HP:0002882	Sudden episodic apnea
1103	CHAT	HP:0000218	High palate
1103	CHAT	HP:0001561	Polyhydramnios
1103	CHAT	HP:0001558	Decreased fetal movement
1103	CHAT	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
1103	CHAT	HP:0002870	Obstructive sleep apnea
1103	CHAT	HP:0030051	Tip-toe gait
1103	CHAT	HP:0030208	Anti-acetylcholine receptor antibody positivity
1103	CHAT	HP:0001618	Dysphonia
1103	CHAT	HP:0001612	Weak cry
1103	CHAT	HP:0001611	Hypernasal speech
1103	CHAT	HP:0000369	Low-set ears
1103	CHAT	HP:0000308	Microretrognathia
1103	CHAT	HP:0000407	Sensorineural hearing impairment
1103	CHAT	HP:0000486	Strabismus
1103	CHAT	HP:0000467	Neck muscle weakness
1103	CHAT	HP:0001761	Pes cavus
1103	CHAT	HP:0000508	Ptosis
1103	CHAT	HP:0000597	Ophthalmoparesis
1103	CHAT	HP:0000565	Esotropia
1105	CHD1	HP:0001290	Generalized hypotonia
1105	CHD1	HP:0001250	Seizure
1105	CHD1	HP:0001252	Hypotonia
1105	CHD1	HP:0001249	Intellectual disability
1105	CHD1	HP:0001263	Global developmental delay
1105	CHD1	HP:0001212	Prominent fingertip pads
1105	CHD1	HP:0001211	Abnormal fingertip morphology
1105	CHD1	HP:0008897	Postnatal growth retardation
1105	CHD1	HP:0000006	Autosomal dominant inheritance
1105	CHD1	HP:0002721	Immunodeficiency
1105	CHD1	HP:0002007	Frontal bossing
1105	CHD1	HP:0011800	Midface retrusion
1105	CHD1	HP:0003593	Infantile onset
1105	CHD1	HP:0010648	Dermal translucency
1105	CHD1	HP:0000629	Periorbital fullness
1105	CHD1	HP:0000733	Abnormal repetitive mannerisms
1105	CHD1	HP:0000717	Autism
1105	CHD1	HP:0000729	Autistic behavior
1105	CHD1	HP:0000256	Macrocephaly
1105	CHD1	HP:0011098	Speech apraxia
1105	CHD1	HP:0012393	Allergy
1105	CHD1	HP:0007874	Almond-shaped palpebral fissure
1105	CHD1	HP:0000307	Pointed chin
1105	CHD1	HP:0000494	Downslanted palpebral fissures
1105	CHD1	HP:0000527	Long eyelashes
1105	CHD1	HP:0011229	Broad eyebrow
1105	CHD1	HP:0000574	Thick eyebrow
1106	CHD2	HP:0001159	Syndactyly
1106	CHD2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
1106	CHD2	HP:0009928	Thick nasal alae
1106	CHD2	HP:0007270	Atypical absence seizure
1106	CHD2	HP:0007256	Abnormal pyramidal sign
1106	CHD2	HP:0020216	Visually-induced seizure
1106	CHD2	HP:0001298	Encephalopathy
1106	CHD2	HP:0001268	Mental deterioration
1106	CHD2	HP:0001252	Hypotonia
1106	CHD2	HP:0001251	Ataxia
1106	CHD2	HP:0001249	Intellectual disability
1106	CHD2	HP:0001263	Global developmental delay
1106	CHD2	HP:0410263	Brain imaging abnormality
1106	CHD2	HP:0100851	Abnormal emotion/affect behavior
1106	CHD2	HP:0007359	Focal-onset seizure
1106	CHD2	HP:0002527	Falls
1106	CHD2	HP:0012075	Personality disorder
1106	CHD2	HP:0012000	EEG with generalized spikes
1106	CHD2	HP:0012001	EEG with generalized polyspikes
1106	CHD2	HP:0001326	EEG with irregular generalized spike and wave complexes
1106	CHD2	HP:0001337	Tremor
1106	CHD2	HP:0000006	Autosomal dominant inheritance
1106	CHD2	HP:0001336	Myoclonus
1106	CHD2	HP:0000179	Thick lower lip vermilion
1106	CHD2	HP:0000154	Wide mouth
1106	CHD2	HP:0002069	Bilateral tonic-clonic seizure
1106	CHD2	HP:0002123	Generalized myoclonic seizure
1106	CHD2	HP:0002121	Generalized non-motor (absence) seizure
1106	CHD2	HP:0002133	Status epilepticus
1106	CHD2	HP:0003593	Infantile onset
1106	CHD2	HP:0200134	Epileptic encephalopathy
1106	CHD2	HP:0002292	Frontal balding
1106	CHD2	HP:0007018	Attention deficit hyperactivity disorder
1106	CHD2	HP:0002392	EEG with polyspike wave complexes
1106	CHD2	HP:0002363	Abnormal brainstem morphology
1106	CHD2	HP:0002376	Developmental regression
1106	CHD2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
1106	CHD2	HP:0002353	EEG abnormality
1106	CHD2	HP:0002317	Unsteady gait
1106	CHD2	HP:0002332	Lack of peer relationships
1106	CHD2	HP:0010841	Multifocal epileptiform discharges
1106	CHD2	HP:0010845	EEG with generalized slow activity
1106	CHD2	HP:0010819	Atonic seizure
1106	CHD2	HP:0010818	Generalized tonic seizure
1106	CHD2	HP:0100678	Premature skin wrinkling
1106	CHD2	HP:0001999	Abnormal facial shape
1106	CHD2	HP:0000752	Hyperactivity
1106	CHD2	HP:0000735	Impaired social interactions
1106	CHD2	HP:0000750	Delayed speech and language development
1106	CHD2	HP:0000718	Aggressive behavior
1106	CHD2	HP:0000729	Autistic behavior
1106	CHD2	HP:0000708	Atypical behavior
1106	CHD2	HP:0011463	Childhood onset
1106	CHD2	HP:0000289	Broad philtrum
1106	CHD2	HP:0000252	Microcephaly
1106	CHD2	HP:0000219	Thin upper lip vermilion
1106	CHD2	HP:0011097	Epileptic spasm
1106	CHD2	HP:0000343	Long philtrum
1106	CHD2	HP:0032792	Tonic seizure
1106	CHD2	HP:0031475	Status epilepticus without prominent motor symptoms
1106	CHD2	HP:0011195	EEG with focal sharp slow waves
1106	CHD2	HP:0011197	EEG with focal spike waves
1106	CHD2	HP:0011182	Interictal epileptiform activity
1106	CHD2	HP:0011171	Simple febrile seizure
1106	CHD2	HP:0011170	Generalized myoclonic-atonic seizure
1106	CHD2	HP:0000463	Anteverted nares
1106	CHD2	HP:0000431	Wide nasal bridge
1106	CHD2	HP:0011220	Prominent forehead
1106	CHD2	HP:0000568	Microphthalmia
1107	CHD3	HP:0025268	Stuttering
1107	CHD3	HP:0001252	Hypotonia
1107	CHD3	HP:0001249	Intellectual disability
1107	CHD3	HP:0001260	Dysarthria
1107	CHD3	HP:0001263	Global developmental delay
1107	CHD3	HP:0001388	Joint laxity
1107	CHD3	HP:0000023	Inguinal hernia
1107	CHD3	HP:0033725	Thin corpus callosum
1107	CHD3	HP:0000006	Autosomal dominant inheritance
1107	CHD3	HP:0002650	Scoliosis
1107	CHD3	HP:0006297	Enamel hypoplasia
1107	CHD3	HP:0002007	Frontal bossing
1107	CHD3	HP:0011800	Midface retrusion
1107	CHD3	HP:0002119	Ventriculomegaly
1107	CHD3	HP:0002136	Broad-based gait
1107	CHD3	HP:0003593	Infantile onset
1107	CHD3	HP:0100704	Cerebral visual impairment
1107	CHD3	HP:0007018	Attention deficit hyperactivity disorder
1107	CHD3	HP:0011968	Feeding difficulties
1107	CHD3	HP:0002317	Unsteady gait
1107	CHD3	HP:0000679	Taurodontia
1107	CHD3	HP:0000687	Widely spaced teeth
1107	CHD3	HP:0031936	Delayed ability to walk
1107	CHD3	HP:0000750	Delayed speech and language development
1107	CHD3	HP:0000729	Autistic behavior
1107	CHD3	HP:0012766	Widened cerebral subarachnoid space
1107	CHD3	HP:0011682	Perimembranous ventricular septal defect
1107	CHD3	HP:0000286	Epicanthus
1107	CHD3	HP:0000256	Macrocephaly
1107	CHD3	HP:0000218	High palate
1107	CHD3	HP:0001537	Umbilical hernia
1107	CHD3	HP:0011098	Speech apraxia
1107	CHD3	HP:0000369	Low-set ears
1107	CHD3	HP:0032794	Myoclonic seizure
1107	CHD3	HP:0000316	Hypertelorism
1107	CHD3	HP:0001642	Pulmonic stenosis
1107	CHD3	HP:0001631	Atrial septal defect
1107	CHD3	HP:0000483	Astigmatism
1107	CHD3	HP:0000486	Strabismus
1107	CHD3	HP:0012469	Infantile spasms
1107	CHD3	HP:0000448	Prominent nose
1107	CHD3	HP:0001760	Abnormal foot morphology
1107	CHD3	HP:0000431	Wide nasal bridge
1107	CHD3	HP:0011220	Prominent forehead
1107	CHD3	HP:0000540	Hypermetropia
1108	CHD4	HP:0001182	Tapered finger
1108	CHD4	HP:0001252	Hypotonia
1108	CHD4	HP:0001249	Intellectual disability
1108	CHD4	HP:0001263	Global developmental delay
1108	CHD4	HP:0100864	Short femoral neck
1108	CHD4	HP:0000083	Renal insufficiency
1108	CHD4	HP:0000062	Ambiguous genitalia
1108	CHD4	HP:0000076	Vesicoureteral reflux
1108	CHD4	HP:0000044	Hypogonadotropic hypogonadism
1108	CHD4	HP:0000054	Micropenis
1108	CHD4	HP:0002677	Small foramen magnum
1108	CHD4	HP:0000028	Cryptorchidism
1108	CHD4	HP:0000006	Autosomal dominant inheritance
1108	CHD4	HP:0002645	Wormian bones
1108	CHD4	HP:0000193	Bifid uvula
1108	CHD4	HP:0002141	Gait imbalance
1108	CHD4	HP:0002119	Ventriculomegaly
1108	CHD4	HP:0002308	Chiari malformation
1108	CHD4	HP:0004322	Short stature
1108	CHD4	HP:0012745	Short palpebral fissure
1108	CHD4	HP:0003180	Flat acetabular roof
1108	CHD4	HP:0000894	Short clavicles
1108	CHD4	HP:0000286	Epicanthus
1108	CHD4	HP:0000280	Coarse facial features
1108	CHD4	HP:0000256	Macrocephaly
1108	CHD4	HP:0000243	Trigonocephaly
1108	CHD4	HP:0001545	Anteriorly placed anus
1108	CHD4	HP:0000378	Cupped ear
1108	CHD4	HP:0002949	Fused cervical vertebrae
1108	CHD4	HP:0000365	Hearing impairment
1108	CHD4	HP:0000369	Low-set ears
1108	CHD4	HP:0001680	Coarctation of aorta
1108	CHD4	HP:0000316	Hypertelorism
1108	CHD4	HP:0001643	Patent ductus arteriosus
1108	CHD4	HP:0001629	Ventricular septal defect
1108	CHD4	HP:0001636	Tetralogy of Fallot
1108	CHD4	HP:0001631	Atrial septal defect
1108	CHD4	HP:0000483	Astigmatism
1108	CHD4	HP:0000508	Ptosis
1108	CHD4	HP:0000582	Upslanted palpebral fissure
1109	AKR1C4	HP:0000062	Ambiguous genitalia
1109	AKR1C4	HP:0000037	Male pseudohermaphroditism
1109	AKR1C4	HP:0000028	Cryptorchidism
1109	AKR1C4	HP:0000007	Autosomal recessive inheritance
1109	AKR1C4	HP:0012245	Sex reversal
1116	CHI3L1	HP:0410291	Negativism
1116	CHI3L1	HP:0000006	Autosomal dominant inheritance
1116	CHI3L1	HP:0100753	Schizophrenia
1116	CHI3L1	HP:0007086	Social and occupational deterioration
1116	CHI3L1	HP:0002353	EEG abnormality
1116	CHI3L1	HP:0000738	Hallucinations
1116	CHI3L1	HP:0000746	Delusions
1119	CHKA	HP:0001276	Hypertonia
1119	CHKA	HP:0001266	Choreoathetosis
1119	CHKA	HP:0002540	Inability to walk
1119	CHKA	HP:0001347	Hyperreflexia
1119	CHKA	HP:0033725	Thin corpus callosum
1119	CHKA	HP:0001344	Absent speech
1119	CHKA	HP:0000007	Autosomal recessive inheritance
1119	CHKA	HP:0002650	Scoliosis
1119	CHKA	HP:0002063	Rigidity
1119	CHKA	HP:0003429	CNS hypomyelination
1119	CHKA	HP:0002194	Delayed gross motor development
1119	CHKA	HP:0003593	Infantile onset
1119	CHKA	HP:0100704	Cerebral visual impairment
1119	CHKA	HP:0100716	Self-injurious behavior
1119	CHKA	HP:0200134	Epileptic encephalopathy
1119	CHKA	HP:0011968	Feeding difficulties
1119	CHKA	HP:0002360	Sleep disturbance
1119	CHKA	HP:0100660	Dyskinesia
1119	CHKA	HP:0000639	Nystagmus
1119	CHKA	HP:0011344	Severe global developmental delay
1119	CHKA	HP:0004322	Short stature
1119	CHKA	HP:0000752	Hyperactivity
1119	CHKA	HP:0000718	Aggressive behavior
1119	CHKA	HP:0000729	Autistic behavior
1119	CHKA	HP:0011463	Childhood onset
1119	CHKA	HP:0000787	Nephrolithiasis
1119	CHKA	HP:0000252	Microcephaly
1119	CHKA	HP:0000218	High palate
1120	CHKB	HP:0002465	Poor speech
1120	CHKB	HP:0003741	Congenital muscular dystrophy
1120	CHKB	HP:0001270	Motor delay
1120	CHKB	HP:0001250	Seizure
1120	CHKB	HP:0001249	Intellectual disability
1120	CHKB	HP:0002515	Waddling gait
1120	CHKB	HP:0001324	Muscle weakness
1120	CHKB	HP:0000007	Autosomal recessive inheritance
1120	CHKB	HP:0001319	Neonatal hypotonia
1120	CHKB	HP:0001427	Mitochondrial inheritance
1120	CHKB	HP:0003391	Gowers sign
1120	CHKB	HP:0003577	Congenital onset
1120	CHKB	HP:0003560	Muscular dystrophy
1120	CHKB	HP:0010628	Facial palsy
1120	CHKB	HP:0003677	Slowly progressive
1120	CHKB	HP:0000750	Delayed speech and language development
1120	CHKB	HP:0003198	Myopathy
1120	CHKB	HP:0003236	Elevated circulating creatine kinase concentration
1120	CHKB	HP:0008064	Ichthyosis
1120	CHKB	HP:0000252	Microcephaly
1120	CHKB	HP:0001644	Dilated cardiomyopathy
1121	CHM	HP:0001133	Constriction of peripheral visual field
1121	CHM	HP:0001139	Choroideremia
1121	CHM	HP:0001417	X-linked inheritance
1121	CHM	HP:0200065	Chorioretinal degeneration
1121	CHM	HP:0003621	Juvenile onset
1121	CHM	HP:0030505	Nummular pigmentation of the fundus
1121	CHM	HP:0000662	Nyctalopia
1121	CHM	HP:0011463	Childhood onset
1121	CHM	HP:0007703	Abnormality of retinal pigmentation
1121	CHM	HP:0007793	Granular macular appearance
1121	CHM	HP:0007737	Bone spicule pigmentation of the retina
1121	CHM	HP:0007843	Attenuation of retinal blood vessels
1121	CHM	HP:0007814	Retinal pigment epithelial mottling
1121	CHM	HP:0007894	Hypopigmentation of the fundus
1121	CHM	HP:0000478	Abnormality of the eye
1121	CHM	HP:0000512	Abnormal electroretinogram
1121	CHM	HP:0000529	Progressive visual loss
1121	CHM	HP:0000505	Visual impairment
1121	CHM	HP:0000504	Abnormality of vision
1121	CHM	HP:0000580	Pigmentary retinopathy
1121	CHM	HP:0000533	Chorioretinal atrophy
1121	CHM	HP:0000545	Myopia
1123	CHN1	HP:0001177	Preaxial hand polydactyly
1123	CHN1	HP:0001156	Brachydactyly
1123	CHN1	HP:0001199	Triphalangeal thumb
1123	CHN1	HP:0009921	Duane anomaly
1123	CHN1	HP:0008572	External ear malformation
1123	CHN1	HP:0001250	Seizure
1123	CHN1	HP:0001263	Global developmental delay
1123	CHN1	HP:0007400	Irregular hyperpigmentation
1123	CHN1	HP:0000086	Ectopic kidney
1123	CHN1	HP:0001357	Plagiocephaly
1123	CHN1	HP:0000006	Autosomal dominant inheritance
1123	CHN1	HP:0003974	Absent radius
1123	CHN1	HP:0000175	Cleft palate
1123	CHN1	HP:0003312	Abnormal form of the vertebral bodies
1123	CHN1	HP:0009601	Aplasia/Hypoplasia of the thumb
1123	CHN1	HP:0002162	Low posterior hairline
1123	CHN1	HP:0001053	Hypopigmented skin patches
1123	CHN1	HP:0000639	Nystagmus
1123	CHN1	HP:0000646	Amblyopia
1123	CHN1	HP:0000643	Blepharospasm
1123	CHN1	HP:0000612	Iris coloboma
1123	CHN1	HP:0000615	Abnormal pupil morphology
1123	CHN1	HP:0011386	Narrow internal auditory canal
1123	CHN1	HP:0011365	Patchy hypopigmentation of hair
1123	CHN1	HP:0005640	Abnormal vertebral segmentation and fusion
1123	CHN1	HP:0030680	Abnormality of cardiovascular system morphology
1123	CHN1	HP:0012745	Short palpebral fissure
1123	CHN1	HP:0012732	Anorectal anomaly
1123	CHN1	HP:0003202	Skeletal muscle atrophy
1123	CHN1	HP:0003298	Spina bifida occulta
1123	CHN1	HP:0012246	Oculomotor nerve palsy
1123	CHN1	HP:0007766	Optic disc hypoplasia
1123	CHN1	HP:0000252	Microcephaly
1123	CHN1	HP:0000232	Everted lower lip vermilion
1123	CHN1	HP:0007818	Central heterochromia
1123	CHN1	HP:0012385	Camptodactyly
1123	CHN1	HP:0000384	Preauricular skin tag
1123	CHN1	HP:0000365	Hearing impairment
1123	CHN1	HP:0000347	Micrognathia
1123	CHN1	HP:0002984	Hypoplasia of the radius
1123	CHN1	HP:0000324	Facial asymmetry
1123	CHN1	HP:0007990	Hypoplastic iris stroma
1123	CHN1	HP:0000407	Sensorineural hearing impairment
1123	CHN1	HP:0000402	Stenosis of the external auditory canal
1123	CHN1	HP:0000486	Strabismus
1123	CHN1	HP:0000482	Microcornea
1123	CHN1	HP:0000496	Abnormality of eye movement
1123	CHN1	HP:0000490	Deeply set eye
1123	CHN1	HP:0000463	Anteverted nares
1123	CHN1	HP:0000470	Short neck
1123	CHN1	HP:0000465	Webbed neck
1123	CHN1	HP:0001762	Talipes equinovarus
1123	CHN1	HP:0000431	Wide nasal bridge
1123	CHN1	HP:0000526	Aniridia
1123	CHN1	HP:0000508	Ptosis
1123	CHN1	HP:0000581	Blepharophimosis
1123	CHN1	HP:0000567	Chorioretinal coloboma
1130	LYST	HP:0001107	Ocular albinism
1130	LYST	HP:0001104	Macular hypoplasia
1130	LYST	HP:0001276	Hypertonia
1130	LYST	HP:0001272	Cerebellar atrophy
1130	LYST	HP:0001288	Gait disturbance
1130	LYST	HP:0001250	Seizure
1130	LYST	HP:0001251	Ataxia
1130	LYST	HP:0001249	Intellectual disability
1130	LYST	HP:0001265	Hyporeflexia
1130	LYST	HP:0001258	Spastic paraplegia
1130	LYST	HP:0002540	Inability to walk
1130	LYST	HP:0007513	Generalized hypopigmentation
1130	LYST	HP:0032499	Giant neutrophil granules
1130	LYST	HP:0007499	Recurrent staphylococcal infections
1130	LYST	HP:0001328	Specific learning disability
1130	LYST	HP:0001324	Muscle weakness
1130	LYST	HP:0000007	Autosomal recessive inheritance
1130	LYST	HP:0001337	Tremor
1130	LYST	HP:0001300	Parkinsonism
1130	LYST	HP:0012176	Abnormal natural killer cell morphology
1130	LYST	HP:0012156	Hemophagocytosis
1130	LYST	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
1130	LYST	HP:0025435	Increased circulating lactate dehydrogenase concentration
1130	LYST	HP:0007663	Reduced visual acuity
1130	LYST	HP:0006308	Atrophy of alveolar ridges
1130	LYST	HP:0001433	Hepatosplenomegaly
1130	LYST	HP:0001410	Decreased liver function
1130	LYST	HP:0002719	Recurrent infections
1130	LYST	HP:0002718	Recurrent bacterial infections
1130	LYST	HP:0002716	Lymphadenopathy
1130	LYST	HP:0002721	Immunodeficiency
1130	LYST	HP:0100543	Cognitive impairment
1130	LYST	HP:0002071	Abnormality of extrapyramidal motor function
1130	LYST	HP:0003474	Somatic sensory dysfunction
1130	LYST	HP:0002155	Hypertriglyceridemia
1130	LYST	HP:0011900	Hypofibrinogenemia
1130	LYST	HP:0002180	Neurodegeneration
1130	LYST	HP:0011869	Abnormal platelet function
1130	LYST	HP:0003593	Infantile onset
1130	LYST	HP:0002240	Hepatomegaly
1130	LYST	HP:0002218	Silver-gray hair
1130	LYST	HP:0002202	Pleural effusion
1130	LYST	HP:0002205	Recurrent respiratory infections
1130	LYST	HP:0011993	Impaired neutrophil bactericidal activity
1130	LYST	HP:0011990	Abnormality of neutrophil physiology
1130	LYST	HP:0020096	Recurrent streptococcal infections
1130	LYST	HP:0001010	Hypopigmentation of the skin
1130	LYST	HP:0009830	Peripheral neuropathy
1130	LYST	HP:0200042	Skin ulcer
1130	LYST	HP:0007133	Progressive peripheral neuropathy
1130	LYST	HP:0003623	Neonatal onset
1130	LYST	HP:0002311	Incoordination
1130	LYST	HP:0007178	Motor polyneuropathy
1130	LYST	HP:0006824	Cranial nerve paralysis
1130	LYST	HP:0006827	Atrophy of the spinal cord
1130	LYST	HP:0005599	Hypopigmentation of hair
1130	LYST	HP:0005592	Giant melanosomes in melanocytes
1130	LYST	HP:0005585	Spotty hyperpigmentation
1130	LYST	HP:0000639	Nystagmus
1130	LYST	HP:0000613	Photophobia
1130	LYST	HP:0001945	Fever
1130	LYST	HP:0001928	Abnormality of coagulation
1130	LYST	HP:0001922	Vacuolated lymphocytes
1130	LYST	HP:0001903	Anemia
1130	LYST	HP:0009027	Foot dorsiflexor weakness
1130	LYST	HP:0000666	Horizontal nystagmus
1130	LYST	HP:0003075	Hypoproteinemia
1130	LYST	HP:0100022	Abnormality of movement
1130	LYST	HP:0000763	Sensory neuropathy
1130	LYST	HP:0000762	Decreased nerve conduction velocity
1130	LYST	HP:0000726	Dementia
1130	LYST	HP:0000704	Periodontitis
1130	LYST	HP:0000707	Abnormality of the nervous system
1130	LYST	HP:0011462	Young adult onset
1130	LYST	HP:0004406	Spontaneous, recurrent epistaxis
1130	LYST	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft
1130	LYST	HP:0003281	Increased circulating ferritin concentration
1130	LYST	HP:0000978	Bruising susceptibility
1130	LYST	HP:0000992	Cutaneous photosensitivity
1130	LYST	HP:0000988	Skin rash
1130	LYST	HP:0000952	Jaundice
1130	LYST	HP:0000969	Edema
1130	LYST	HP:0007703	Abnormality of retinal pigmentation
1130	LYST	HP:0031408	Increased proportion of CD25+ mast cells
1130	LYST	HP:0007730	Iris hypopigmentation
1130	LYST	HP:0001583	Rotary nystagmus
1130	LYST	HP:0000230	Gingivitis
1130	LYST	HP:0000225	Gingival bleeding
1130	LYST	HP:0002910	Elevated hepatic transaminase
1130	LYST	HP:0002902	Hyponatremia
1130	LYST	HP:0001698	Pericardial effusion
1130	LYST	HP:0012484	Abnormal dense granules
1130	LYST	HP:0000486	Strabismus
1130	LYST	HP:0012444	Brain atrophy
1130	LYST	HP:0001744	Splenomegaly
1130	LYST	HP:0000421	Epistaxis
1130	LYST	HP:0005406	Recurrent bacterial skin infections
1130	LYST	HP:0005429	Recurrent systemic pyogenic infections
1130	LYST	HP:0001892	Abnormal bleeding
1130	LYST	HP:0001881	Abnormal leukocyte morphology
1130	LYST	HP:0001882	Leukopenia
1130	LYST	HP:0001873	Thrombocytopenia
1130	LYST	HP:0001876	Pancytopenia
1130	LYST	HP:0001875	Neutropenia
1131	CHRM3	HP:0010957	Congenital posterior urethral valve
1131	CHRM3	HP:0002580	Volvulus
1131	CHRM3	HP:0002566	Intestinal malrotation
1131	CHRM3	HP:0008734	Decreased testicular size
1131	CHRM3	HP:0000083	Renal insufficiency
1131	CHRM3	HP:0000076	Vesicoureteral reflux
1131	CHRM3	HP:0000072	Hydroureter
1131	CHRM3	HP:0000069	Abnormality of the ureter
1131	CHRM3	HP:0001374	Congenital hip dislocation
1131	CHRM3	HP:0000014	Abnormality of the bladder
1131	CHRM3	HP:0000028	Cryptorchidism
1131	CHRM3	HP:0000010	Recurrent urinary tract infections
1131	CHRM3	HP:0000007	Autosomal recessive inheritance
1131	CHRM3	HP:0000003	Multicystic kidney dysplasia
1131	CHRM3	HP:0002650	Scoliosis
1131	CHRM3	HP:0000144	Decreased fertility
1131	CHRM3	HP:0000130	Abnormality of the uterus
1131	CHRM3	HP:0000126	Hydronephrosis
1131	CHRM3	HP:0002023	Anal atresia
1131	CHRM3	HP:0002019	Constipation
1131	CHRM3	HP:0100543	Cognitive impairment
1131	CHRM3	HP:0003422	Vertebral segmentation defect
1131	CHRM3	HP:0002205	Recurrent respiratory infections
1131	CHRM3	HP:0100779	Urogenital sinus anomaly
1131	CHRM3	HP:0004392	Prune belly
1131	CHRM3	HP:0000772	Abnormal rib morphology
1131	CHRM3	HP:0000767	Pectus excavatum
1131	CHRM3	HP:0000768	Pectus carinatum
1131	CHRM3	HP:0000217	Xerostomia
1131	CHRM3	HP:0001562	Oligohydramnios
1131	CHRM3	HP:0001508	Failure to thrive
1131	CHRM3	HP:0005199	Aplasia of the abdominal wall musculature
1131	CHRM3	HP:0001643	Patent ductus arteriosus
1131	CHRM3	HP:0001629	Ventricular septal defect
1131	CHRM3	HP:0001636	Tetralogy of Fallot
1131	CHRM3	HP:0001631	Atrial septal defect
1131	CHRM3	HP:0030211	Slow pupillary light response
1131	CHRM3	HP:0011100	Intestinal atresia
1131	CHRM3	HP:0001762	Talipes equinovarus
1131	CHRM3	HP:0006703	Aplasia/Hypoplasia of the lungs
1134	CHRNA1	HP:0003722	Neck flexor weakness
1134	CHRNA1	HP:0001270	Motor delay
1134	CHRNA1	HP:0001283	Bulbar palsy
1134	CHRNA1	HP:0001252	Hypotonia
1134	CHRNA1	HP:0001260	Dysarthria
1134	CHRNA1	HP:0007340	Lower limb muscle weakness
1134	CHRNA1	HP:0003803	Type 1 muscle fiber predominance
1134	CHRNA1	HP:0001371	Flexion contracture
1134	CHRNA1	HP:0001373	Joint dislocation
1134	CHRNA1	HP:0410011	Abnormality of masticatory muscle
1134	CHRNA1	HP:0002659	Increased susceptibility to fractures
1134	CHRNA1	HP:0001324	Muscle weakness
1134	CHRNA1	HP:0000007	Autosomal recessive inheritance
1134	CHRNA1	HP:0000006	Autosomal dominant inheritance
1134	CHRNA1	HP:0002650	Scoliosis
1134	CHRNA1	HP:0001319	Neonatal hypotonia
1134	CHRNA1	HP:0001315	Reduced tendon reflexes
1134	CHRNA1	HP:0031108	Triceps weakness
1134	CHRNA1	HP:0000175	Cleft palate
1134	CHRNA1	HP:0008954	Intrinsic hand muscle atrophy
1134	CHRNA1	HP:0001446	Abnormality of the musculature of the upper limbs
1134	CHRNA1	HP:0002792	Reduced vital capacity
1134	CHRNA1	HP:0002747	Respiratory insufficiency due to muscle weakness
1134	CHRNA1	HP:0002033	Poor suck
1134	CHRNA1	HP:0002015	Dysphagia
1134	CHRNA1	HP:0003324	Generalized muscle weakness
1134	CHRNA1	HP:0002089	Pulmonary hypoplasia
1134	CHRNA1	HP:0002091	Restrictive ventilatory defect
1134	CHRNA1	HP:0003391	Gowers sign
1134	CHRNA1	HP:0002047	Malignant hyperthermia
1134	CHRNA1	HP:0003388	Easy fatigability
1134	CHRNA1	HP:0005905	Abnormal cervical curvature
1134	CHRNA1	HP:0003473	Fatigable weakness
1134	CHRNA1	HP:0003484	Upper limb muscle weakness
1134	CHRNA1	HP:0003458	EMG: myopathic abnormalities
1134	CHRNA1	HP:0003443	Decreased size of nerve terminals
1134	CHRNA1	HP:0003436	Prolonged miniature endplate currents
1134	CHRNA1	HP:0003402	Decreased miniature endplate potentials
1134	CHRNA1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
1134	CHRNA1	HP:0002194	Delayed gross motor development
1134	CHRNA1	HP:0003596	Middle age onset
1134	CHRNA1	HP:0003593	Infantile onset
1134	CHRNA1	HP:0003577	Congenital onset
1134	CHRNA1	HP:0003554	Type 2 muscle fiber atrophy
1134	CHRNA1	HP:0003547	Shoulder girdle muscle weakness
1134	CHRNA1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
1134	CHRNA1	HP:0011968	Feeding difficulties
1134	CHRNA1	HP:0010628	Facial palsy
1134	CHRNA1	HP:0003690	Limb muscle weakness
1134	CHRNA1	HP:0001040	Multiple pterygia
1134	CHRNA1	HP:0002329	Drowsiness
1134	CHRNA1	HP:0002304	Akinesia
1134	CHRNA1	HP:0003634	Amyoplasia
1134	CHRNA1	HP:0003621	Juvenile onset
1134	CHRNA1	HP:0009077	Weakness of long finger extensor muscles
1134	CHRNA1	HP:0001961	Hypoplastic heart
1134	CHRNA1	HP:0000651	Diplopia
1134	CHRNA1	HP:0000602	Ophthalmoplegia
1134	CHRNA1	HP:0009005	Weakness of the intrinsic hand muscles
1134	CHRNA1	HP:0001989	Fetal akinesia sequence
1134	CHRNA1	HP:0001999	Abnormal facial shape
1134	CHRNA1	HP:0005659	Thoracic kyphoscoliosis
1134	CHRNA1	HP:0009130	Hand muscle atrophy
1134	CHRNA1	HP:0012764	Orthopnea
1134	CHRNA1	HP:0009113	Diaphragmatic weakness
1134	CHRNA1	HP:0000883	Thin ribs
1134	CHRNA1	HP:0003202	Skeletal muscle atrophy
1134	CHRNA1	HP:0000969	Edema
1134	CHRNA1	HP:0000961	Cyanosis
1134	CHRNA1	HP:0009381	Short finger
1134	CHRNA1	HP:0000286	Epicanthus
1134	CHRNA1	HP:0002804	Arthrogryposis multiplex congenita
1134	CHRNA1	HP:0002878	Respiratory failure
1134	CHRNA1	HP:0000218	High palate
1134	CHRNA1	HP:0002875	Exertional dyspnea
1134	CHRNA1	HP:0001561	Polyhydramnios
1134	CHRNA1	HP:0031374	Ankle weakness
1134	CHRNA1	HP:0001511	Intrauterine growth retardation
1134	CHRNA1	HP:0030208	Anti-acetylcholine receptor antibody positivity
1134	CHRNA1	HP:0005216	Impaired mastication
1134	CHRNA1	HP:0002948	Vertebral fusion
1134	CHRNA1	HP:0030196	Fatigable weakness of respiratory muscles
1134	CHRNA1	HP:0001612	Weak cry
1134	CHRNA1	HP:0030199	Fatigable weakness of neck muscles
1134	CHRNA1	HP:0000369	Low-set ears
1134	CHRNA1	HP:0000347	Micrognathia
1134	CHRNA1	HP:0000316	Hypertelorism
1134	CHRNA1	HP:0030319	Weakness of facial musculature
1134	CHRNA1	HP:0000400	Macrotia
1134	CHRNA1	HP:0000476	Cystic hygroma
1134	CHRNA1	HP:0000496	Abnormality of eye movement
1134	CHRNA1	HP:0000457	Depressed nasal ridge
1134	CHRNA1	HP:0000467	Neck muscle weakness
1134	CHRNA1	HP:0025709	Intermediate young adult onset
1134	CHRNA1	HP:0000508	Ptosis
1134	CHRNA1	HP:0000597	Ophthalmoparesis
1134	CHRNA1	HP:0012515	Hip flexor weakness
1135	CHRNA2	HP:0025144	Shivering
1135	CHRNA2	HP:0025237	Confusional arousal
1135	CHRNA2	HP:0001289	Confusion
1135	CHRNA2	HP:0025236	Somnambulism
1135	CHRNA2	HP:0025235	Non-rapid eye movement parasomnia
1135	CHRNA2	HP:0001256	Intellectual disability, mild
1135	CHRNA2	HP:0003829	Typified by incomplete penetrance
1135	CHRNA2	HP:0000020	Urinary incontinence
1135	CHRNA2	HP:0001345	Psychotic mentation
1135	CHRNA2	HP:0001332	Dystonia
1135	CHRNA2	HP:0000006	Autosomal dominant inheritance
1135	CHRNA2	HP:0100543	Cognitive impairment
1135	CHRNA2	HP:0002069	Bilateral tonic-clonic seizure
1135	CHRNA2	HP:0002268	Paroxysmal dystonia
1135	CHRNA2	HP:0007018	Attention deficit hyperactivity disorder
1135	CHRNA2	HP:0003621	Juvenile onset
1135	CHRNA2	HP:0031951	Nocturnal seizures
1135	CHRNA2	HP:0004305	Involuntary movements
1135	CHRNA2	HP:0000739	Anxiety
1135	CHRNA2	HP:0000733	Abnormal repetitive mannerisms
1135	CHRNA2	HP:0000716	Depression
1135	CHRNA2	HP:0000708	Atypical behavior
1135	CHRNA2	HP:0011463	Childhood onset
1135	CHRNA2	HP:0012759	Neurodevelopmental abnormality
1135	CHRNA2	HP:0002883	Hyperventilation
1135	CHRNA2	HP:0031535	Increased theta frequency activity in EEG
1135	CHRNA2	HP:0011193	EEG with focal spikes
1135	CHRNA2	HP:0011182	Interictal epileptiform activity
1135	CHRNA2	HP:0011174	Focal hyperkinetic seizure
1135	CHRNA2	HP:0031589	Suicidal ideation
1135	CHRNA2	HP:0025710	Late young adult onset
1136	CHRNA3	HP:0001278	Orthostatic hypotension
1136	CHRNA3	HP:0000076	Vesicoureteral reflux
1136	CHRNA3	HP:0000047	Hypospadias
1136	CHRNA3	HP:0000011	Neurogenic bladder
1136	CHRNA3	HP:0000010	Recurrent urinary tract infections
1136	CHRNA3	HP:0000007	Autosomal recessive inheritance
1136	CHRNA3	HP:0000126	Hydronephrosis
1136	CHRNA3	HP:0002020	Gastroesophageal reflux
1136	CHRNA3	HP:0012624	Stage 2 chronic kidney disease
1136	CHRNA3	HP:0001508	Failure to thrive
1136	CHRNA3	HP:0030211	Slow pupillary light response
1137	CHRNA4	HP:0025237	Confusional arousal
1137	CHRNA4	HP:0025236	Somnambulism
1137	CHRNA4	HP:0025235	Non-rapid eye movement parasomnia
1137	CHRNA4	HP:0001256	Intellectual disability, mild
1137	CHRNA4	HP:0001250	Seizure
1137	CHRNA4	HP:0001249	Intellectual disability
1137	CHRNA4	HP:0007359	Focal-onset seizure
1137	CHRNA4	HP:0003829	Typified by incomplete penetrance
1137	CHRNA4	HP:0000020	Urinary incontinence
1137	CHRNA4	HP:0001345	Psychotic mentation
1137	CHRNA4	HP:0000006	Autosomal dominant inheritance
1137	CHRNA4	HP:0100543	Cognitive impairment
1137	CHRNA4	HP:0002069	Bilateral tonic-clonic seizure
1137	CHRNA4	HP:0002268	Paroxysmal dystonia
1137	CHRNA4	HP:0007018	Attention deficit hyperactivity disorder
1137	CHRNA4	HP:0031951	Nocturnal seizures
1137	CHRNA4	HP:0004305	Involuntary movements
1137	CHRNA4	HP:0000739	Anxiety
1137	CHRNA4	HP:0000733	Abnormal repetitive mannerisms
1137	CHRNA4	HP:0000716	Depression
1137	CHRNA4	HP:0000708	Atypical behavior
1137	CHRNA4	HP:0011463	Childhood onset
1137	CHRNA4	HP:0002883	Hyperventilation
1137	CHRNA4	HP:0031535	Increased theta frequency activity in EEG
1137	CHRNA4	HP:0011193	EEG with focal spikes
1137	CHRNA4	HP:0011182	Interictal epileptiform activity
1137	CHRNA4	HP:0011174	Focal hyperkinetic seizure
1137	CHRNA4	HP:0031589	Suicidal ideation
1139	CHRNA7	HP:0001156	Brachydactyly
1139	CHRNA7	HP:0007302	Bipolar affective disorder
1139	CHRNA7	HP:0010864	Intellectual disability, severe
1139	CHRNA7	HP:0001256	Intellectual disability, mild
1139	CHRNA7	HP:0001250	Seizure
1139	CHRNA7	HP:0001252	Hypotonia
1139	CHRNA7	HP:0001249	Intellectual disability
1139	CHRNA7	HP:0001263	Global developmental delay
1139	CHRNA7	HP:0003829	Typified by incomplete penetrance
1139	CHRNA7	HP:0001328	Specific learning disability
1139	CHRNA7	HP:0000006	Autosomal dominant inheritance
1139	CHRNA7	HP:0002007	Frontal bossing
1139	CHRNA7	HP:0100753	Schizophrenia
1139	CHRNA7	HP:0007018	Attention deficit hyperactivity disorder
1139	CHRNA7	HP:0002342	Intellectual disability, moderate
1139	CHRNA7	HP:0004209	Clinodactyly of the 5th finger
1139	CHRNA7	HP:0001999	Abnormal facial shape
1139	CHRNA7	HP:0000664	Synophrys
1139	CHRNA7	HP:0004322	Short stature
1139	CHRNA7	HP:0030680	Abnormality of cardiovascular system morphology
1139	CHRNA7	HP:0000717	Autism
1139	CHRNA7	HP:0000995	Melanocytic nevus
1139	CHRNA7	HP:0008050	Abnormality of the palpebral fissures
1139	CHRNA7	HP:0000286	Epicanthus
1139	CHRNA7	HP:0000256	Macrocephaly
1139	CHRNA7	HP:0000252	Microcephaly
1139	CHRNA7	HP:0000377	Abnormal pinna morphology
1139	CHRNA7	HP:0000316	Hypertelorism
1139	CHRNA7	HP:0000400	Macrotia
1139	CHRNA7	HP:0005274	Prominent nasal tip
1139	CHRNA7	HP:0000486	Strabismus
1139	CHRNA7	HP:0000494	Downslanted palpebral fissures
1139	CHRNA7	HP:0000411	Protruding ear
1140	CHRNB1	HP:0002421	Poor head control
1140	CHRNB1	HP:0003722	Neck flexor weakness
1140	CHRNB1	HP:0001252	Hypotonia
1140	CHRNB1	HP:0003803	Type 1 muscle fiber predominance
1140	CHRNB1	HP:0001371	Flexion contracture
1140	CHRNB1	HP:0025336	Delayed ability to sit
1140	CHRNB1	HP:0410011	Abnormality of masticatory muscle
1140	CHRNB1	HP:0001324	Muscle weakness
1140	CHRNB1	HP:0000007	Autosomal recessive inheritance
1140	CHRNB1	HP:0000006	Autosomal dominant inheritance
1140	CHRNB1	HP:0002650	Scoliosis
1140	CHRNB1	HP:0001319	Neonatal hypotonia
1140	CHRNB1	HP:0001315	Reduced tendon reflexes
1140	CHRNB1	HP:0031108	Triceps weakness
1140	CHRNB1	HP:0001446	Abnormality of the musculature of the upper limbs
1140	CHRNB1	HP:0002792	Reduced vital capacity
1140	CHRNB1	HP:0002033	Poor suck
1140	CHRNB1	HP:0002093	Respiratory insufficiency
1140	CHRNB1	HP:0002091	Restrictive ventilatory defect
1140	CHRNB1	HP:0003388	Easy fatigability
1140	CHRNB1	HP:0003473	Fatigable weakness
1140	CHRNB1	HP:0003484	Upper limb muscle weakness
1140	CHRNB1	HP:0003458	EMG: myopathic abnormalities
1140	CHRNB1	HP:0003443	Decreased size of nerve terminals
1140	CHRNB1	HP:0003402	Decreased miniature endplate potentials
1140	CHRNB1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
1140	CHRNB1	HP:0002194	Delayed gross motor development
1140	CHRNB1	HP:0003577	Congenital onset
1140	CHRNB1	HP:0003555	Muscle fiber splitting
1140	CHRNB1	HP:0003547	Shoulder girdle muscle weakness
1140	CHRNB1	HP:0003557	Increased variability in muscle fiber diameter
1140	CHRNB1	HP:0011968	Feeding difficulties
1140	CHRNB1	HP:0010628	Facial palsy
1140	CHRNB1	HP:0003690	Limb muscle weakness
1140	CHRNB1	HP:0002329	Drowsiness
1140	CHRNB1	HP:0009077	Weakness of long finger extensor muscles
1140	CHRNB1	HP:0000651	Diplopia
1140	CHRNB1	HP:0000602	Ophthalmoplegia
1140	CHRNB1	HP:0009005	Weakness of the intrinsic hand muscles
1140	CHRNB1	HP:0005659	Thoracic kyphoscoliosis
1140	CHRNB1	HP:0031936	Delayed ability to walk
1140	CHRNB1	HP:0012764	Orthopnea
1140	CHRNB1	HP:0003198	Myopathy
1140	CHRNB1	HP:0003202	Skeletal muscle atrophy
1140	CHRNB1	HP:0000961	Cyanosis
1140	CHRNB1	HP:0000275	Narrow face
1140	CHRNB1	HP:0000276	Long face
1140	CHRNB1	HP:0006380	Knee flexion contracture
1140	CHRNB1	HP:0002878	Respiratory failure
1140	CHRNB1	HP:0000218	High palate
1140	CHRNB1	HP:0002875	Exertional dyspnea
1140	CHRNB1	HP:0031374	Ankle weakness
1140	CHRNB1	HP:0030208	Anti-acetylcholine receptor antibody positivity
1140	CHRNB1	HP:0030196	Fatigable weakness of respiratory muscles
1140	CHRNB1	HP:0030199	Fatigable weakness of neck muscles
1140	CHRNB1	HP:0001620	High pitched voice
1140	CHRNB1	HP:0000496	Abnormality of eye movement
1140	CHRNB1	HP:0000508	Ptosis
1140	CHRNB1	HP:0000597	Ophthalmoparesis
1140	CHRNB1	HP:0012515	Hip flexor weakness
1141	CHRNB2	HP:0025237	Confusional arousal
1141	CHRNB2	HP:0025236	Somnambulism
1141	CHRNB2	HP:0025235	Non-rapid eye movement parasomnia
1141	CHRNB2	HP:0001256	Intellectual disability, mild
1141	CHRNB2	HP:0001250	Seizure
1141	CHRNB2	HP:0000020	Urinary incontinence
1141	CHRNB2	HP:0001345	Psychotic mentation
1141	CHRNB2	HP:0000006	Autosomal dominant inheritance
1141	CHRNB2	HP:0100543	Cognitive impairment
1141	CHRNB2	HP:0002069	Bilateral tonic-clonic seizure
1141	CHRNB2	HP:0002268	Paroxysmal dystonia
1141	CHRNB2	HP:0007018	Attention deficit hyperactivity disorder
1141	CHRNB2	HP:0031951	Nocturnal seizures
1141	CHRNB2	HP:0004305	Involuntary movements
1141	CHRNB2	HP:0000739	Anxiety
1141	CHRNB2	HP:0000733	Abnormal repetitive mannerisms
1141	CHRNB2	HP:0000716	Depression
1141	CHRNB2	HP:0000708	Atypical behavior
1141	CHRNB2	HP:0002883	Hyperventilation
1141	CHRNB2	HP:0031535	Increased theta frequency activity in EEG
1141	CHRNB2	HP:0011193	EEG with focal spikes
1141	CHRNB2	HP:0011182	Interictal epileptiform activity
1141	CHRNB2	HP:0011174	Focal hyperkinetic seizure
1141	CHRNB2	HP:0031589	Suicidal ideation
1144	CHRND	HP:0002421	Poor head control
1144	CHRND	HP:0003750	Increased muscle fatiguability
1144	CHRND	HP:0003722	Neck flexor weakness
1144	CHRND	HP:0001270	Motor delay
1144	CHRND	HP:0001252	Hypotonia
1144	CHRND	HP:0002505	Loss of ambulation
1144	CHRND	HP:0003803	Type 1 muscle fiber predominance
1144	CHRND	HP:0001371	Flexion contracture
1144	CHRND	HP:0001373	Joint dislocation
1144	CHRND	HP:0025336	Delayed ability to sit
1144	CHRND	HP:0410011	Abnormality of masticatory muscle
1144	CHRND	HP:0002659	Increased susceptibility to fractures
1144	CHRND	HP:0001324	Muscle weakness
1144	CHRND	HP:0000007	Autosomal recessive inheritance
1144	CHRND	HP:0000006	Autosomal dominant inheritance
1144	CHRND	HP:0002650	Scoliosis
1144	CHRND	HP:0001319	Neonatal hypotonia
1144	CHRND	HP:0001315	Reduced tendon reflexes
1144	CHRND	HP:0031108	Triceps weakness
1144	CHRND	HP:0000175	Cleft palate
1144	CHRND	HP:0001446	Abnormality of the musculature of the upper limbs
1144	CHRND	HP:0002792	Reduced vital capacity
1144	CHRND	HP:0002033	Poor suck
1144	CHRND	HP:0002015	Dysphagia
1144	CHRND	HP:0003324	Generalized muscle weakness
1144	CHRND	HP:0002089	Pulmonary hypoplasia
1144	CHRND	HP:0002093	Respiratory insufficiency
1144	CHRND	HP:0002091	Restrictive ventilatory defect
1144	CHRND	HP:0002047	Malignant hyperthermia
1144	CHRND	HP:0003388	Easy fatigability
1144	CHRND	HP:0005905	Abnormal cervical curvature
1144	CHRND	HP:0003473	Fatigable weakness
1144	CHRND	HP:0003484	Upper limb muscle weakness
1144	CHRND	HP:0003458	EMG: myopathic abnormalities
1144	CHRND	HP:0003443	Decreased size of nerve terminals
1144	CHRND	HP:0003436	Prolonged miniature endplate currents
1144	CHRND	HP:0003402	Decreased miniature endplate potentials
1144	CHRND	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
1144	CHRND	HP:0002194	Delayed gross motor development
1144	CHRND	HP:0003593	Infantile onset
1144	CHRND	HP:0003547	Shoulder girdle muscle weakness
1144	CHRND	HP:0011968	Feeding difficulties
1144	CHRND	HP:0010628	Facial palsy
1144	CHRND	HP:0001040	Multiple pterygia
1144	CHRND	HP:0003676	Progressive
1144	CHRND	HP:0002329	Drowsiness
1144	CHRND	HP:0003623	Neonatal onset
1144	CHRND	HP:0002304	Akinesia
1144	CHRND	HP:0003634	Amyoplasia
1144	CHRND	HP:0009077	Weakness of long finger extensor muscles
1144	CHRND	HP:0001961	Hypoplastic heart
1144	CHRND	HP:0000651	Diplopia
1144	CHRND	HP:0000602	Ophthalmoplegia
1144	CHRND	HP:0009005	Weakness of the intrinsic hand muscles
1144	CHRND	HP:0001989	Fetal akinesia sequence
1144	CHRND	HP:0001999	Abnormal facial shape
1144	CHRND	HP:0005659	Thoracic kyphoscoliosis
1144	CHRND	HP:0012764	Orthopnea
1144	CHRND	HP:0000883	Thin ribs
1144	CHRND	HP:0003202	Skeletal muscle atrophy
1144	CHRND	HP:0000969	Edema
1144	CHRND	HP:0000961	Cyanosis
1144	CHRND	HP:0009381	Short finger
1144	CHRND	HP:0000286	Epicanthus
1144	CHRND	HP:0002878	Respiratory failure
1144	CHRND	HP:0000218	High palate
1144	CHRND	HP:0002875	Exertional dyspnea
1144	CHRND	HP:0001561	Polyhydramnios
1144	CHRND	HP:0001558	Decreased fetal movement
1144	CHRND	HP:0031374	Ankle weakness
1144	CHRND	HP:0001511	Intrauterine growth retardation
1144	CHRND	HP:0030208	Anti-acetylcholine receptor antibody positivity
1144	CHRND	HP:0002948	Vertebral fusion
1144	CHRND	HP:0030196	Fatigable weakness of respiratory muscles
1144	CHRND	HP:0001612	Weak cry
1144	CHRND	HP:0030199	Fatigable weakness of neck muscles
1144	CHRND	HP:0000369	Low-set ears
1144	CHRND	HP:0000347	Micrognathia
1144	CHRND	HP:0000316	Hypertelorism
1144	CHRND	HP:0030319	Weakness of facial musculature
1144	CHRND	HP:0000476	Cystic hygroma
1144	CHRND	HP:0000496	Abnormality of eye movement
1144	CHRND	HP:0000457	Depressed nasal ridge
1144	CHRND	HP:0000467	Neck muscle weakness
1144	CHRND	HP:0000508	Ptosis
1144	CHRND	HP:0000597	Ophthalmoparesis
1144	CHRND	HP:0012515	Hip flexor weakness
1145	CHRNE	HP:0003722	Neck flexor weakness
1145	CHRNE	HP:0001290	Generalized hypotonia
1145	CHRNE	HP:0001270	Motor delay
1145	CHRNE	HP:0001283	Bulbar palsy
1145	CHRNE	HP:0001252	Hypotonia
1145	CHRNE	HP:0001260	Dysarthria
1145	CHRNE	HP:0003828	Variable expressivity
1145	CHRNE	HP:0003803	Type 1 muscle fiber predominance
1145	CHRNE	HP:0008872	Feeding difficulties in infancy
1145	CHRNE	HP:0410011	Abnormality of masticatory muscle
1145	CHRNE	HP:0001324	Muscle weakness
1145	CHRNE	HP:0000007	Autosomal recessive inheritance
1145	CHRNE	HP:0000006	Autosomal dominant inheritance
1145	CHRNE	HP:0002650	Scoliosis
1145	CHRNE	HP:0001319	Neonatal hypotonia
1145	CHRNE	HP:0001315	Reduced tendon reflexes
1145	CHRNE	HP:0031108	Triceps weakness
1145	CHRNE	HP:0001446	Abnormality of the musculature of the upper limbs
1145	CHRNE	HP:0002792	Reduced vital capacity
1145	CHRNE	HP:0002747	Respiratory insufficiency due to muscle weakness
1145	CHRNE	HP:0002033	Poor suck
1145	CHRNE	HP:0002015	Dysphagia
1145	CHRNE	HP:0002098	Respiratory distress
1145	CHRNE	HP:0002093	Respiratory insufficiency
1145	CHRNE	HP:0002091	Restrictive ventilatory defect
1145	CHRNE	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction
1145	CHRNE	HP:0003394	Muscle spasm
1145	CHRNE	HP:0003391	Gowers sign
1145	CHRNE	HP:0003388	Easy fatigability
1145	CHRNE	HP:0003473	Fatigable weakness
1145	CHRNE	HP:0003484	Upper limb muscle weakness
1145	CHRNE	HP:0003458	EMG: myopathic abnormalities
1145	CHRNE	HP:0003443	Decreased size of nerve terminals
1145	CHRNE	HP:0003402	Decreased miniature endplate potentials
1145	CHRNE	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
1145	CHRNE	HP:0002194	Delayed gross motor development
1145	CHRNE	HP:0003593	Infantile onset
1145	CHRNE	HP:0003577	Congenital onset
1145	CHRNE	HP:0003554	Type 2 muscle fiber atrophy
1145	CHRNE	HP:0003547	Shoulder girdle muscle weakness
1145	CHRNE	HP:0011968	Feeding difficulties
1145	CHRNE	HP:0010628	Facial palsy
1145	CHRNE	HP:0003690	Limb muscle weakness
1145	CHRNE	HP:0003680	Nonprogressive
1145	CHRNE	HP:0002329	Drowsiness
1145	CHRNE	HP:0003623	Neonatal onset
1145	CHRNE	HP:0009077	Weakness of long finger extensor muscles
1145	CHRNE	HP:0000651	Diplopia
1145	CHRNE	HP:0000602	Ophthalmoplegia
1145	CHRNE	HP:0000689	Dental malocclusion
1145	CHRNE	HP:0009005	Weakness of the intrinsic hand muscles
1145	CHRNE	HP:0005659	Thoracic kyphoscoliosis
1145	CHRNE	HP:0011463	Childhood onset
1145	CHRNE	HP:0012764	Orthopnea
1145	CHRNE	HP:0003198	Myopathy
1145	CHRNE	HP:0003199	Decreased muscle mass
1145	CHRNE	HP:0003202	Skeletal muscle atrophy
1145	CHRNE	HP:0000961	Cyanosis
1145	CHRNE	HP:0000276	Long face
1145	CHRNE	HP:0002804	Arthrogryposis multiplex congenita
1145	CHRNE	HP:0002882	Sudden episodic apnea
1145	CHRNE	HP:0002878	Respiratory failure
1145	CHRNE	HP:0000218	High palate
1145	CHRNE	HP:0002875	Exertional dyspnea
1145	CHRNE	HP:0001558	Decreased fetal movement
1145	CHRNE	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
1145	CHRNE	HP:0031374	Ankle weakness
1145	CHRNE	HP:0030208	Anti-acetylcholine receptor antibody positivity
1145	CHRNE	HP:0030197	Fatigable weakness of skeletal muscles
1145	CHRNE	HP:0030196	Fatigable weakness of respiratory muscles
1145	CHRNE	HP:0001612	Weak cry
1145	CHRNE	HP:0030199	Fatigable weakness of neck muscles
1145	CHRNE	HP:0000303	Mandibular prognathia
1145	CHRNE	HP:0030319	Weakness of facial musculature
1145	CHRNE	HP:0000486	Strabismus
1145	CHRNE	HP:0000496	Abnormality of eye movement
1145	CHRNE	HP:0000467	Neck muscle weakness
1145	CHRNE	HP:0000508	Ptosis
1145	CHRNE	HP:0000597	Ophthalmoparesis
1145	CHRNE	HP:0012515	Hip flexor weakness
1146	CHRNG	HP:0001166	Arachnodactyly
1146	CHRNG	HP:0001159	Syndactyly
1146	CHRNG	HP:0003764	Nevus
1146	CHRNG	HP:0001288	Gait disturbance
1146	CHRNG	HP:0001249	Intellectual disability
1146	CHRNG	HP:0002557	Hypoplastic nipples
1146	CHRNG	HP:0006101	Finger syndactyly
1146	CHRNG	HP:0008729	Absence of labia majora
1146	CHRNG	HP:0008736	Hypoplasia of penis
1146	CHRNG	HP:0008807	Acetabular dysplasia
1146	CHRNG	HP:0000046	Small scrotum
1146	CHRNG	HP:0001376	Limitation of joint mobility
1146	CHRNG	HP:0001371	Flexion contracture
1146	CHRNG	HP:0001373	Joint dislocation
1146	CHRNG	HP:0000047	Hypospadias
1146	CHRNG	HP:0000023	Inguinal hernia
1146	CHRNG	HP:0000028	Cryptorchidism
1146	CHRNG	HP:0002659	Increased susceptibility to fractures
1146	CHRNG	HP:0000007	Autosomal recessive inheritance
1146	CHRNG	HP:0002650	Scoliosis
1146	CHRNG	HP:0002643	Neonatal respiratory distress
1146	CHRNG	HP:0000160	Narrow mouth
1146	CHRNG	HP:0001488	Bilateral ptosis
1146	CHRNG	HP:0000157	Abnormality of the tongue
1146	CHRNG	HP:0000175	Cleft palate
1146	CHRNG	HP:0000135	Hypogonadism
1146	CHRNG	HP:0002714	Downturned corners of mouth
1146	CHRNG	HP:0002089	Pulmonary hypoplasia
1146	CHRNG	HP:0100543	Cognitive impairment
1146	CHRNG	HP:0002047	Malignant hyperthermia
1146	CHRNG	HP:0009465	Ulnar deviation of finger
1146	CHRNG	HP:0005905	Abnormal cervical curvature
1146	CHRNG	HP:0003422	Vertebral segmentation defect
1146	CHRNG	HP:0002162	Low posterior hairline
1146	CHRNG	HP:0100490	Camptodactyly of finger
1146	CHRNG	HP:0011842	Abnormal skeletal morphology
1146	CHRNG	HP:0001060	Axillary pterygium
1146	CHRNG	HP:0001059	Pterygium
1146	CHRNG	HP:0001040	Multiple pterygia
1146	CHRNG	HP:0200021	Down-sloping shoulders
1146	CHRNG	HP:0009773	Symphalangism affecting the phalanges of the hand
1146	CHRNG	HP:0009760	Antecubital pterygium
1146	CHRNG	HP:0009761	Anterior clefting of vertebral bodies
1146	CHRNG	HP:0009757	Intercrural pterygium
1146	CHRNG	HP:0009756	Popliteal pterygium
1146	CHRNG	HP:0009759	Neck pterygia
1146	CHRNG	HP:0002304	Akinesia
1146	CHRNG	HP:0003634	Amyoplasia
1146	CHRNG	HP:0004942	Aortic aneurysm
1146	CHRNG	HP:0001961	Hypoplastic heart
1146	CHRNG	HP:0000689	Dental malocclusion
1146	CHRNG	HP:0001989	Fetal akinesia sequence
1146	CHRNG	HP:0001999	Abnormal facial shape
1146	CHRNG	HP:0004322	Short stature
1146	CHRNG	HP:0030680	Abnormality of cardiovascular system morphology
1146	CHRNG	HP:0003083	Dislocated radial head
1146	CHRNG	HP:0100022	Abnormality of movement
1146	CHRNG	HP:0000767	Pectus excavatum
1146	CHRNG	HP:0000766	Abnormal sternum morphology
1146	CHRNG	HP:0012718	Morphological abnormality of the gastrointestinal tract
1146	CHRNG	HP:0011461	Fetal onset
1146	CHRNG	HP:0000776	Congenital diaphragmatic hernia
1146	CHRNG	HP:0009110	Diaphragmatic eventration
1146	CHRNG	HP:0000902	Rib fusion
1146	CHRNG	HP:0004459	Exostosis of the external auditory canal
1146	CHRNG	HP:0000890	Long clavicles
1146	CHRNG	HP:0000883	Thin ribs
1146	CHRNG	HP:0003202	Skeletal muscle atrophy
1146	CHRNG	HP:0003298	Spina bifida occulta
1146	CHRNG	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
1146	CHRNG	HP:0000969	Edema
1146	CHRNG	HP:0008065	Aplasia/Hypoplasia of the skin
1146	CHRNG	HP:0009381	Short finger
1146	CHRNG	HP:0000286	Epicanthus
1146	CHRNG	HP:0000276	Long face
1146	CHRNG	HP:0000268	Dolichocephaly
1146	CHRNG	HP:0006443	Patellar aplasia
1146	CHRNG	HP:0006446	Dysplastic patella
1146	CHRNG	HP:0002827	Hip dislocation
1146	CHRNG	HP:0002828	Multiple joint contractures
1146	CHRNG	HP:0002808	Kyphosis
1146	CHRNG	HP:0002804	Arthrogryposis multiplex congenita
1146	CHRNG	HP:0006380	Knee flexion contracture
1146	CHRNG	HP:0000252	Microcephaly
1146	CHRNG	HP:0000218	High palate
1146	CHRNG	HP:0001561	Polyhydramnios
1146	CHRNG	HP:0001558	Decreased fetal movement
1146	CHRNG	HP:0001537	Umbilical hernia
1146	CHRNG	HP:0000207	Triangular mouth
1146	CHRNG	HP:0000202	Orofacial cleft
1146	CHRNG	HP:0001508	Failure to thrive
1146	CHRNG	HP:0001511	Intrauterine growth retardation
1146	CHRNG	HP:0012385	Camptodactyly
1146	CHRNG	HP:0002948	Vertebral fusion
1146	CHRNG	HP:0002949	Fused cervical vertebrae
1146	CHRNG	HP:0002944	Thoracolumbar scoliosis
1146	CHRNG	HP:0000365	Hearing impairment
1146	CHRNG	HP:0000364	Hearing abnormality
1146	CHRNG	HP:0000369	Low-set ears
1146	CHRNG	HP:0000343	Long philtrum
1146	CHRNG	HP:0000347	Micrognathia
1146	CHRNG	HP:0000316	Hypertelorism
1146	CHRNG	HP:0001646	Abnormal aortic valve morphology
1146	CHRNG	HP:0000324	Facial asymmetry
1146	CHRNG	HP:0000307	Pointed chin
1146	CHRNG	HP:0030319	Weakness of facial musculature
1146	CHRNG	HP:0000405	Conductive hearing impairment
1146	CHRNG	HP:0000486	Strabismus
1146	CHRNG	HP:0000476	Cystic hygroma
1146	CHRNG	HP:0000494	Downslanted palpebral fissures
1146	CHRNG	HP:0000492	Abnormal eyelid morphology
1146	CHRNG	HP:0001789	Hydrops fetalis
1146	CHRNG	HP:0000457	Depressed nasal ridge
1146	CHRNG	HP:0000470	Short neck
1146	CHRNG	HP:0000465	Webbed neck
1146	CHRNG	HP:0001760	Abnormal foot morphology
1146	CHRNG	HP:0001762	Talipes equinovarus
1146	CHRNG	HP:0001838	Rocker bottom foot
1146	CHRNG	HP:0000506	Telecanthus
1146	CHRNG	HP:0000508	Ptosis
1146	CHRNG	HP:0001836	Camptodactyly of toe
1146	CHRNG	HP:0001884	Talipes calcaneovalgus
1147	CHUK	HP:0000085	Horseshoe kidney
1147	CHUK	HP:0000007	Autosomal recessive inheritance
1147	CHUK	HP:0000191	Accessory oral frenulum
1147	CHUK	HP:0002744	Bilateral cleft lip and palate
1147	CHUK	HP:0011861	Bilateral trilobed lung
1147	CHUK	HP:0003577	Congenital onset
1147	CHUK	HP:0001060	Axillary pterygium
1147	CHUK	HP:0009816	Lower limb undergrowth
1147	CHUK	HP:0009824	Upper limb undergrowth
1147	CHUK	HP:0200055	Small hand
1147	CHUK	HP:0009760	Antecubital pterygium
1147	CHUK	HP:0009755	Ankyloblepharon
1147	CHUK	HP:0009756	Popliteal pterygium
1147	CHUK	HP:0005650	2-5 finger cutaneous syndactyly
1147	CHUK	HP:0011461	Fetal onset
1147	CHUK	HP:0000776	Congenital diaphragmatic hernia
1147	CHUK	HP:0000963	Thin skin
1147	CHUK	HP:0005807	Absent distal phalanges
1147	CHUK	HP:0000260	Wide anterior fontanel
1147	CHUK	HP:0000269	Prominent occiput
1147	CHUK	HP:0033984	Increased urinary 8-oxo-7,8-dihydroguanosine level
1147	CHUK	HP:0001558	Decreased fetal movement
1147	CHUK	HP:0001539	Omphalocele
1147	CHUK	HP:0000396	Overfolded helix
1147	CHUK	HP:0000369	Low-set ears
1147	CHUK	HP:0000347	Micrognathia
1147	CHUK	HP:0001636	Tetralogy of Fallot
1147	CHUK	HP:0007957	Corneal opacity
1147	CHUK	HP:0000568	Microphthalmia
1161	ERCC8	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
1161	ERCC8	HP:0001105	Retinal atrophy
1161	ERCC8	HP:0002446	Astrocytosis
1161	ERCC8	HP:0008615	Adult onset sensorineural hearing impairment
1161	ERCC8	HP:0032263	Increased blood pressure
1161	ERCC8	HP:0003758	Reduced subcutaneous adipose tissue
1161	ERCC8	HP:0001297	Stroke
1161	ERCC8	HP:0001272	Cerebellar atrophy
1161	ERCC8	HP:0001271	Polyneuropathy
1161	ERCC8	HP:0001288	Gait disturbance
1161	ERCC8	HP:0001284	Areflexia
1161	ERCC8	HP:0001256	Intellectual disability, mild
1161	ERCC8	HP:0001250	Seizure
1161	ERCC8	HP:0001252	Hypotonia
1161	ERCC8	HP:0001251	Ataxia
1161	ERCC8	HP:0001249	Intellectual disability
1161	ERCC8	HP:0001260	Dysarthria
1161	ERCC8	HP:0001263	Global developmental delay
1161	ERCC8	HP:0007346	Subcortical white matter calcifications
1161	ERCC8	HP:0002545	Patchy demyelination of subcortical white matter
1161	ERCC8	HP:0002509	Limb hypertonia
1161	ERCC8	HP:0000089	Renal hypoplasia
1161	ERCC8	HP:0000083	Renal insufficiency
1161	ERCC8	HP:0000093	Proteinuria
1161	ERCC8	HP:0000072	Hydroureter
1161	ERCC8	HP:0001376	Limitation of joint mobility
1161	ERCC8	HP:0001371	Flexion contracture
1161	ERCC8	HP:0000054	Micropenis
1161	ERCC8	HP:0002684	Thickened calvaria
1161	ERCC8	HP:0000016	Urinary retention
1161	ERCC8	HP:0001347	Hyperreflexia
1161	ERCC8	HP:0000026	Male hypogonadism
1161	ERCC8	HP:0000028	Cryptorchidism
1161	ERCC8	HP:0008897	Postnatal growth retardation
1161	ERCC8	HP:0008872	Feeding difficulties in infancy
1161	ERCC8	HP:0008850	Severe postnatal growth retardation
1161	ERCC8	HP:0008839	Hypoplastic pelvis
1161	ERCC8	HP:0007495	Prematurely aged appearance
1161	ERCC8	HP:0001324	Muscle weakness
1161	ERCC8	HP:0000011	Neurogenic bladder
1161	ERCC8	HP:0000007	Autosomal recessive inheritance
1161	ERCC8	HP:0001337	Tremor
1161	ERCC8	HP:0002650	Scoliosis
1161	ERCC8	HP:0002616	Aortic root aneurysm
1161	ERCC8	HP:0000164	Abnormality of the dentition
1161	ERCC8	HP:0000135	Hypogonadism
1161	ERCC8	HP:0001480	Freckling
1161	ERCC8	HP:0006334	Hypoplasia of the primary teeth
1161	ERCC8	HP:0006313	Widely spaced primary teeth
1161	ERCC8	HP:0008936	Axial hypotonia
1161	ERCC8	HP:0006297	Enamel hypoplasia
1161	ERCC8	HP:0000122	Unilateral renal agenesis
1161	ERCC8	HP:0000126	Hydronephrosis
1161	ERCC8	HP:0003357	Thymic hormone decreased
1161	ERCC8	HP:0002020	Gastroesophageal reflux
1161	ERCC8	HP:0002014	Diarrhea
1161	ERCC8	HP:0002080	Intention tremor
1161	ERCC8	HP:0100543	Cognitive impairment
1161	ERCC8	HP:0002061	Lower limb spasticity
1161	ERCC8	HP:0002059	Cerebral atrophy
1161	ERCC8	HP:0010472	Abnormal circulating porphyrin concentration
1161	ERCC8	HP:0003477	Peripheral axonal neuropathy
1161	ERCC8	HP:0003469	Peripheral dysmyelination
1161	ERCC8	HP:0002119	Ventriculomegaly
1161	ERCC8	HP:0002135	Basal ganglia calcification
1161	ERCC8	HP:0002172	Postural instability
1161	ERCC8	HP:0003593	Infantile onset
1161	ERCC8	HP:0002240	Hepatomegaly
1161	ERCC8	HP:0002216	Premature graying of hair
1161	ERCC8	HP:0008366	Foot joint contracture
1161	ERCC8	HP:0011968	Feeding difficulties
1161	ERCC8	HP:0001034	Hypermelanotic macule
1161	ERCC8	HP:0002360	Sleep disturbance
1161	ERCC8	HP:0002344	Progressive neurologic deterioration
1161	ERCC8	HP:0002343	Normal pressure hydrocephalus
1161	ERCC8	HP:0002355	Difficulty walking
1161	ERCC8	HP:0002317	Unsteady gait
1161	ERCC8	HP:0001000	Abnormality of skin pigmentation
1161	ERCC8	HP:0009830	Peripheral neuropathy
1161	ERCC8	HP:0001097	Keratoconjunctivitis sicca
1161	ERCC8	HP:0100699	Scarring
1161	ERCC8	HP:0007108	Demyelinating peripheral neuropathy
1161	ERCC8	HP:0004934	Vascular calcification
1161	ERCC8	HP:0000639	Nystagmus
1161	ERCC8	HP:0000633	Decreased lacrimation
1161	ERCC8	HP:0000649	Abnormality of visual evoked potentials
1161	ERCC8	HP:0000648	Optic atrophy
1161	ERCC8	HP:0000613	Photophobia
1161	ERCC8	HP:0001903	Anemia
1161	ERCC8	HP:0011359	Dry hair
1161	ERCC8	HP:0000680	Delayed eruption of primary teeth
1161	ERCC8	HP:0000674	Anodontia
1161	ERCC8	HP:0000689	Dental malocclusion
1161	ERCC8	HP:0000685	Hypoplasia of teeth
1161	ERCC8	HP:0000670	Carious teeth
1161	ERCC8	HP:0001999	Abnormal facial shape
1161	ERCC8	HP:0004322	Short stature
1161	ERCC8	HP:0004302	Functional motor deficit
1161	ERCC8	HP:0006958	Abnormal auditory evoked potentials
1161	ERCC8	HP:0004370	Abnormality of temperature regulation
1161	ERCC8	HP:0000762	Decreased nerve conduction velocity
1161	ERCC8	HP:0000726	Dementia
1161	ERCC8	HP:0011461	Fetal onset
1161	ERCC8	HP:0012758	Neurodevelopmental delay
1161	ERCC8	HP:0012762	Cerebral white matter atrophy
1161	ERCC8	HP:0100309	Subdural hemorrhage
1161	ERCC8	HP:0003134	Abnormality of peripheral nerve conduction
1161	ERCC8	HP:0004463	Absent brainstem auditory responses
1161	ERCC8	HP:0003130	Abnormal peripheral myelination
1161	ERCC8	HP:0003138	Increased blood urea nitrogen
1161	ERCC8	HP:0011527	Lentiglobus
1161	ERCC8	HP:0000858	Irregular menstruation
1161	ERCC8	HP:0012804	Corneal ulceration
1161	ERCC8	HP:0000822	Hypertension
1161	ERCC8	HP:0010234	Ivory epiphyses of the phalanges of the hand
1161	ERCC8	HP:0003224	Increased cellular sensitivity to UV light
1161	ERCC8	HP:0003202	Skeletal muscle atrophy
1161	ERCC8	HP:0003278	Square pelvis bone
1161	ERCC8	HP:0003273	Hip contracture
1161	ERCC8	HP:0000992	Cutaneous photosensitivity
1161	ERCC8	HP:0000987	Atypical scarring of skin
1161	ERCC8	HP:0000958	Dry skin
1161	ERCC8	HP:0000970	Anhidrosis
1161	ERCC8	HP:0000966	Hypohidrosis
1161	ERCC8	HP:0008070	Sparse hair
1161	ERCC8	HP:0011675	Arrhythmia
1161	ERCC8	HP:0000292	Loss of facial adipose tissue
1161	ERCC8	HP:0000276	Long face
1161	ERCC8	HP:0007759	Opacification of the corneal stroma
1161	ERCC8	HP:0002808	Kyphosis
1161	ERCC8	HP:0000253	Progressive microcephaly
1161	ERCC8	HP:0000252	Microcephaly
1161	ERCC8	HP:0001530	Mild postnatal growth retardation
1161	ERCC8	HP:0002866	Hypoplastic iliac wing
1161	ERCC8	HP:0001508	Failure to thrive
1161	ERCC8	HP:0001511	Intrauterine growth retardation
1161	ERCC8	HP:0007814	Retinal pigment epithelial mottling
1161	ERCC8	HP:0000377	Abnormal pinna morphology
1161	ERCC8	HP:0002910	Elevated hepatic transaminase
1161	ERCC8	HP:0005181	Premature coronary artery atherosclerosis
1161	ERCC8	HP:0000365	Hearing impairment
1161	ERCC8	HP:0000331	Short chin
1161	ERCC8	HP:0001638	Cardiomyopathy
1161	ERCC8	HP:0000303	Mandibular prognathia
1161	ERCC8	HP:0005301	Persistent left superior vena cava
1161	ERCC8	HP:0005328	Progeroid facial appearance
1161	ERCC8	HP:0000407	Sensorineural hearing impairment
1161	ERCC8	HP:0000405	Conductive hearing impairment
1161	ERCC8	HP:0000400	Macrotia
1161	ERCC8	HP:0000486	Strabismus
1161	ERCC8	HP:0000482	Microcornea
1161	ERCC8	HP:0000490	Deeply set eye
1161	ERCC8	HP:0000460	Narrow nose
1161	ERCC8	HP:0012444	Brain atrophy
1161	ERCC8	HP:0012447	Abnormal myelination
1161	ERCC8	HP:0000448	Prominent nose
1161	ERCC8	HP:0000417	Slender nose
1161	ERCC8	HP:0001744	Splenomegaly
1161	ERCC8	HP:0000518	Cataract
1161	ERCC8	HP:0000519	Developmental cataract
1161	ERCC8	HP:0000528	Anophthalmia
1161	ERCC8	HP:0000509	Conjunctivitis
1161	ERCC8	HP:0000505	Visual impairment
1161	ERCC8	HP:0000580	Pigmentary retinopathy
1161	ERCC8	HP:0000554	Uveitis
1161	ERCC8	HP:0000556	Retinal dystrophy
1161	ERCC8	HP:0000573	Retinal hemorrhage
1161	ERCC8	HP:0000568	Microphthalmia
1161	ERCC8	HP:0000540	Hypermetropia
1161	ERCC8	HP:0000546	Retinal degeneration
1161	ERCC8	HP:0000543	Optic disc pallor
1173	AP2M1	HP:0001159	Syndactyly
1173	AP2M1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
1173	AP2M1	HP:0009928	Thick nasal alae
1173	AP2M1	HP:0007270	Atypical absence seizure
1173	AP2M1	HP:0007256	Abnormal pyramidal sign
1173	AP2M1	HP:0010850	EEG with spike-wave complexes
1173	AP2M1	HP:0001290	Generalized hypotonia
1173	AP2M1	HP:0001252	Hypotonia
1173	AP2M1	HP:0001251	Ataxia
1173	AP2M1	HP:0001249	Intellectual disability
1173	AP2M1	HP:0001263	Global developmental delay
1173	AP2M1	HP:0410263	Brain imaging abnormality
1173	AP2M1	HP:0100851	Abnormal emotion/affect behavior
1173	AP2M1	HP:0007359	Focal-onset seizure
1173	AP2M1	HP:0002500	Abnormal cerebral white matter morphology
1173	AP2M1	HP:0001326	EEG with irregular generalized spike and wave complexes
1173	AP2M1	HP:0001337	Tremor
1173	AP2M1	HP:0000006	Autosomal dominant inheritance
1173	AP2M1	HP:0001336	Myoclonus
1173	AP2M1	HP:0000179	Thick lower lip vermilion
1173	AP2M1	HP:0000154	Wide mouth
1173	AP2M1	HP:0002069	Bilateral tonic-clonic seizure
1173	AP2M1	HP:0002066	Gait ataxia
1173	AP2M1	HP:0002078	Truncal ataxia
1173	AP2M1	HP:0002072	Chorea
1173	AP2M1	HP:0002123	Generalized myoclonic seizure
1173	AP2M1	HP:0002121	Generalized non-motor (absence) seizure
1173	AP2M1	HP:0200134	Epileptic encephalopathy
1173	AP2M1	HP:0002292	Frontal balding
1173	AP2M1	HP:0007018	Attention deficit hyperactivity disorder
1173	AP2M1	HP:0430028	Hyperplasia of the maxilla
1173	AP2M1	HP:0002384	Focal impaired awareness seizure
1173	AP2M1	HP:0002392	EEG with polyspike wave complexes
1173	AP2M1	HP:0002317	Unsteady gait
1173	AP2M1	HP:0002332	Lack of peer relationships
1173	AP2M1	HP:0010845	EEG with generalized slow activity
1173	AP2M1	HP:0010819	Atonic seizure
1173	AP2M1	HP:0100678	Premature skin wrinkling
1173	AP2M1	HP:0001999	Abnormal facial shape
1173	AP2M1	HP:0000752	Hyperactivity
1173	AP2M1	HP:0000735	Impaired social interactions
1173	AP2M1	HP:0000750	Delayed speech and language development
1173	AP2M1	HP:0000729	Autistic behavior
1173	AP2M1	HP:0000289	Broad philtrum
1173	AP2M1	HP:0000252	Microcephaly
1173	AP2M1	HP:0000219	Thin upper lip vermilion
1173	AP2M1	HP:0011097	Epileptic spasm
1173	AP2M1	HP:0000343	Long philtrum
1173	AP2M1	HP:0011197	EEG with focal spike waves
1173	AP2M1	HP:0011182	Interictal epileptiform activity
1173	AP2M1	HP:0011171	Simple febrile seizure
1173	AP2M1	HP:0011170	Generalized myoclonic-atonic seizure
1173	AP2M1	HP:0011149	Absence seizure with eyelid myoclonia
1173	AP2M1	HP:0000463	Anteverted nares
1173	AP2M1	HP:0000431	Wide nasal bridge
1173	AP2M1	HP:0011220	Prominent forehead
1173	AP2M1	HP:0000568	Microphthalmia
1174	AP1S1	HP:0002580	Volvulus
1174	AP1S1	HP:0001252	Hypotonia
1174	AP1S1	HP:0001249	Intellectual disability
1174	AP1S1	HP:0001263	Global developmental delay
1174	AP1S1	HP:0033643	Increased circulating very long-chain fatty acid concentration
1174	AP1S1	HP:0003819	Death in childhood
1174	AP1S1	HP:0003811	Neonatal death
1174	AP1S1	HP:0001396	Cholestasis
1174	AP1S1	HP:0001395	Hepatic fibrosis
1174	AP1S1	HP:0001394	Cirrhosis
1174	AP1S1	HP:0000007	Autosomal recessive inheritance
1174	AP1S1	HP:0001406	Intrahepatic cholestasis
1174	AP1S1	HP:0002014	Diarrhea
1174	AP1S1	HP:0003577	Congenital onset
1174	AP1S1	HP:0002242	Abnormal intestine morphology
1174	AP1S1	HP:0011967	Decreased circulating copper concentration
1174	AP1S1	HP:0010837	Decreased circulating ceruloplasmin concentration
1174	AP1S1	HP:0009830	Peripheral neuropathy
1174	AP1S1	HP:0010783	Erythema
1174	AP1S1	HP:0004388	Microcolon
1174	AP1S1	HP:0000962	Hyperkeratosis
1174	AP1S1	HP:0008064	Ichthyosis
1174	AP1S1	HP:0001522	Death in infancy
1174	AP1S1	HP:0001510	Growth delay
1174	AP1S1	HP:0005235	Jejunal atresia
1174	AP1S1	HP:0000348	High forehead
1174	AP1S1	HP:0000407	Sensorineural hearing impairment
1174	AP1S1	HP:0000518	Cataract
1174	AP1S1	HP:0000582	Upslanted palpebral fissure
1175	AP2S1	HP:0008659	Multiple small medullary renal cysts
1175	AP2S1	HP:0000083	Renal insufficiency
1175	AP2S1	HP:0001324	Muscle weakness
1175	AP2S1	HP:0000006	Autosomal dominant inheritance
1175	AP2S1	HP:0002653	Bone pain
1175	AP2S1	HP:0002749	Osteomalacia
1175	AP2S1	HP:0002148	Hypophosphatemia
1175	AP2S1	HP:0008200	Primary hyperparathyroidism
1175	AP2S1	HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption
1175	AP2S1	HP:0001012	Multiple lipomas
1175	AP2S1	HP:0002315	Headache
1175	AP2S1	HP:0003072	Hypercalcemia
1175	AP2S1	HP:0004398	Peptic ulcer
1175	AP2S1	HP:0000716	Depression
1175	AP2S1	HP:0000787	Nephrolithiasis
1175	AP2S1	HP:0003127	Hypocalciuria
1175	AP2S1	HP:0000934	Chondrocalcinosis
1175	AP2S1	HP:0012378	Fatigue
1175	AP2S1	HP:0002918	Hypermagnesemia
1175	AP2S1	HP:0001733	Pancreatitis
1180	CLCN1	HP:0002486	Myotonia
1180	CLCN1	HP:0003730	EMG: myotonic runs
1180	CLCN1	HP:0003740	Myotonia with warm-up phenomenon
1180	CLCN1	HP:0003712	Skeletal muscle hypertrophy
1180	CLCN1	HP:0001324	Muscle weakness
1180	CLCN1	HP:0000007	Autosomal recessive inheritance
1180	CLCN1	HP:0000006	Autosomal dominant inheritance
1180	CLCN1	HP:0008968	Muscle hypertrophy of the lower extremities
1180	CLCN1	HP:0003326	Myalgia
1180	CLCN1	HP:0002015	Dysphagia
1180	CLCN1	HP:0003457	EMG abnormality
1180	CLCN1	HP:0010548	Percussion myotonia
1180	CLCN1	HP:0003552	Muscle stiffness
1180	CLCN1	HP:0003621	Juvenile onset
1180	CLCN1	HP:0011463	Childhood onset
1180	CLCN1	HP:0011462	Young adult onset
1180	CLCN1	HP:0012899	Handgrip myotonia
1180	CLCN1	HP:0025605	Lid lag on downgaze
1180	CLCN1	HP:0025708	Early young adult onset
1181	CLCN2	HP:0001138	Optic neuropathy
1181	CLCN2	HP:0001123	Visual field defect
1181	CLCN2	HP:0001249	Intellectual disability
1181	CLCN2	HP:0003829	Typified by incomplete penetrance
1181	CLCN2	HP:0001324	Muscle weakness
1181	CLCN2	HP:0000007	Autosomal recessive inheritance
1181	CLCN2	HP:0000006	Autosomal dominant inheritance
1181	CLCN2	HP:0000153	Abnormality of the mouth
1181	CLCN2	HP:0002018	Nausea
1181	CLCN2	HP:0002066	Gait ataxia
1181	CLCN2	HP:0002070	Limb ataxia
1181	CLCN2	HP:0011746	Secretory adrenocortical adenoma
1181	CLCN2	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
1181	CLCN2	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism
1181	CLCN2	HP:0002123	Generalized myoclonic seizure
1181	CLCN2	HP:0002121	Generalized non-motor (absence) seizure
1181	CLCN2	HP:0002133	Status epilepticus
1181	CLCN2	HP:0002197	Generalized-onset seizure
1181	CLCN2	HP:0002170	Intracranial hemorrhage
1181	CLCN2	HP:0008221	Adrenal hyperplasia
1181	CLCN2	HP:0003596	Middle age onset
1181	CLCN2	HP:0200114	Metabolic alkalosis
1181	CLCN2	HP:0007000	Morning myoclonic jerks
1181	CLCN2	HP:0002392	EEG with polyspike wave complexes
1181	CLCN2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
1181	CLCN2	HP:0002345	Action tremor
1181	CLCN2	HP:0002352	Leukoencephalopathy
1181	CLCN2	HP:0002315	Headache
1181	CLCN2	HP:0007207	Photosensitive tonic-clonic seizure
1181	CLCN2	HP:0003621	Juvenile onset
1181	CLCN2	HP:0007193	Bilateral tonic-clonic seizure on awakening
1181	CLCN2	HP:0030502	Retinoschisis
1181	CLCN2	HP:0000718	Aggressive behavior
1181	CLCN2	HP:0011463	Childhood onset
1181	CLCN2	HP:0000859	Hyperaldosteronism
1181	CLCN2	HP:0011506	Choroidal neovascularization
1181	CLCN2	HP:0000822	Hypertension
1181	CLCN2	HP:0040084	Abnormal circulating renin
1181	CLCN2	HP:0002900	Hypokalemia
1181	CLCN2	HP:0000360	Tinnitus
1181	CLCN2	HP:0000496	Abnormality of eye movement
1181	CLCN2	HP:0025710	Late young adult onset
1181	CLCN2	HP:0000421	Epistaxis
1181	CLCN2	HP:0000533	Chorioretinal atrophy
1182	CLCN3	HP:0010945	Fetal pyelectasis
1182	CLCN3	HP:0025161	Frequent temper tantrums
1182	CLCN3	HP:0009890	High anterior hairline
1182	CLCN3	HP:0010862	Delayed fine motor development
1182	CLCN3	HP:0002410	Aqueductal stenosis
1182	CLCN3	HP:0100807	Long fingers
1182	CLCN3	HP:0001274	Agenesis of corpus callosum
1182	CLCN3	HP:0001252	Hypotonia
1182	CLCN3	HP:0001249	Intellectual disability
1182	CLCN3	HP:0001263	Global developmental delay
1182	CLCN3	HP:0001257	Spasticity
1182	CLCN3	HP:0007359	Focal-onset seizure
1182	CLCN3	HP:0003819	Death in childhood
1182	CLCN3	HP:0001374	Congenital hip dislocation
1182	CLCN3	HP:0001357	Plagiocephaly
1182	CLCN3	HP:0000028	Cryptorchidism
1182	CLCN3	HP:0033725	Thin corpus callosum
1182	CLCN3	HP:0001344	Absent speech
1182	CLCN3	HP:0001338	Partial agenesis of the corpus callosum
1182	CLCN3	HP:0000007	Autosomal recessive inheritance
1182	CLCN3	HP:0000006	Autosomal dominant inheritance
1182	CLCN3	HP:0001321	Cerebellar hypoplasia
1182	CLCN3	HP:0000160	Narrow mouth
1182	CLCN3	HP:0001488	Bilateral ptosis
1182	CLCN3	HP:0025444	Reduced amygdala volume
1182	CLCN3	HP:0012110	Hypoplasia of the pons
1182	CLCN3	HP:0025405	Visual fixation instability
1182	CLCN3	HP:0002007	Frontal bossing
1182	CLCN3	HP:0011800	Midface retrusion
1182	CLCN3	HP:0002069	Bilateral tonic-clonic seizure
1182	CLCN3	HP:0011933	Elongated superior cerebellar peduncle
1182	CLCN3	HP:0002188	Delayed CNS myelination
1182	CLCN3	HP:0002194	Delayed gross motor development
1182	CLCN3	HP:0002263	Exaggerated cupid's bow
1182	CLCN3	HP:0003593	Infantile onset
1182	CLCN3	HP:0100716	Self-injurious behavior
1182	CLCN3	HP:0011968	Feeding difficulties
1182	CLCN3	HP:0010804	Tented upper lip vermilion
1182	CLCN3	HP:0008447	Hypoplastic coccygeal vertebrae
1182	CLCN3	HP:0009765	Low hanging columella
1182	CLCN3	HP:0003623	Neonatal onset
1182	CLCN3	HP:0004209	Clinodactyly of the 5th finger
1182	CLCN3	HP:0000639	Nystagmus
1182	CLCN3	HP:0000648	Optic atrophy
1182	CLCN3	HP:0000601	Hypotelorism
1182	CLCN3	HP:0000664	Synophrys
1182	CLCN3	HP:0006956	Lateral ventricle dilatation
1182	CLCN3	HP:0003083	Dislocated radial head
1182	CLCN3	HP:0031936	Delayed ability to walk
1182	CLCN3	HP:0000752	Hyperactivity
1182	CLCN3	HP:0000739	Anxiety
1182	CLCN3	HP:0000750	Delayed speech and language development
1182	CLCN3	HP:0000711	Restlessness
1182	CLCN3	HP:0000729	Autistic behavior
1182	CLCN3	HP:0100321	Abnormal dentate nucleus morphology
1182	CLCN3	HP:0012803	Anisometropia
1182	CLCN3	HP:0000286	Epicanthus
1182	CLCN3	HP:0000293	Full cheeks
1182	CLCN3	HP:0000294	Low anterior hairline
1182	CLCN3	HP:0000256	Macrocephaly
1182	CLCN3	HP:0000276	Long face
1182	CLCN3	HP:0002804	Arthrogryposis multiplex congenita
1182	CLCN3	HP:0000239	Large fontanelles
1182	CLCN3	HP:0000238	Hydrocephalus
1182	CLCN3	HP:0000252	Microcephaly
1182	CLCN3	HP:0000248	Brachycephaly
1182	CLCN3	HP:0000219	Thin upper lip vermilion
1182	CLCN3	HP:0000218	High palate
1182	CLCN3	HP:0025517	Hypoplastic hippocampus
1182	CLCN3	HP:0001508	Failure to thrive
1182	CLCN3	HP:0007814	Retinal pigment epithelial mottling
1182	CLCN3	HP:0007874	Almond-shaped palpebral fissure
1182	CLCN3	HP:0000358	Posteriorly rotated ears
1182	CLCN3	HP:0000369	Low-set ears
1182	CLCN3	HP:0000343	Long philtrum
1182	CLCN3	HP:0032792	Tonic seizure
1182	CLCN3	HP:0000347	Micrognathia
1182	CLCN3	HP:0032794	Myoclonic seizure
1182	CLCN3	HP:0000316	Hypertelorism
1182	CLCN3	HP:0000322	Short philtrum
1182	CLCN3	HP:0001631	Atrial septal defect
1182	CLCN3	HP:0000303	Mandibular prognathia
1182	CLCN3	HP:0000407	Sensorineural hearing impairment
1182	CLCN3	HP:0000400	Macrotia
1182	CLCN3	HP:0000486	Strabismus
1182	CLCN3	HP:0000494	Downslanted palpebral fissures
1182	CLCN3	HP:0001776	Bilateral talipes equinovarus
1182	CLCN3	HP:0000418	Narrow nasal ridge
1182	CLCN3	HP:0000414	Bulbous nose
1182	CLCN3	HP:0005487	Prominent metopic ridge
1182	CLCN3	HP:0011220	Prominent forehead
1182	CLCN3	HP:0000556	Retinal dystrophy
1182	CLCN3	HP:0000574	Thick eyebrow
1182	CLCN3	HP:0000565	Esotropia
1182	CLCN3	HP:0000540	Hypermetropia
1182	CLCN3	HP:0012520	Dilation of Virchow-Robin spaces
1183	CLCN4	HP:0007302	Bipolar affective disorder
1183	CLCN4	HP:0010864	Intellectual disability, severe
1183	CLCN4	HP:0001290	Generalized hypotonia
1183	CLCN4	HP:0001256	Intellectual disability, mild
1183	CLCN4	HP:0001250	Seizure
1183	CLCN4	HP:0001252	Hypotonia
1183	CLCN4	HP:0001263	Global developmental delay
1183	CLCN4	HP:0002500	Abnormal cerebral white matter morphology
1183	CLCN4	HP:0000023	Inguinal hernia
1183	CLCN4	HP:0000028	Cryptorchidism
1183	CLCN4	HP:0001332	Dystonia
1183	CLCN4	HP:0001344	Absent speech
1183	CLCN4	HP:0001336	Myoclonus
1183	CLCN4	HP:0002650	Scoliosis
1183	CLCN4	HP:0008947	Infantile muscular hypotonia
1183	CLCN4	HP:0001423	X-linked dominant inheritance
1183	CLCN4	HP:0002020	Gastroesophageal reflux
1183	CLCN4	HP:0011800	Midface retrusion
1183	CLCN4	HP:0002069	Bilateral tonic-clonic seizure
1183	CLCN4	HP:0002061	Lower limb spasticity
1183	CLCN4	HP:0002079	Hypoplasia of the corpus callosum
1183	CLCN4	HP:0002072	Chorea
1183	CLCN4	HP:0002073	Progressive cerebellar ataxia
1183	CLCN4	HP:0002059	Cerebral atrophy
1183	CLCN4	HP:0002120	Cerebral cortical atrophy
1183	CLCN4	HP:0002121	Generalized non-motor (absence) seizure
1183	CLCN4	HP:0002119	Ventriculomegaly
1183	CLCN4	HP:0003593	Infantile onset
1183	CLCN4	HP:0100704	Cerebral visual impairment
1183	CLCN4	HP:0100716	Self-injurious behavior
1183	CLCN4	HP:0200134	Epileptic encephalopathy
1183	CLCN4	HP:0011968	Feeding difficulties
1183	CLCN4	HP:0002384	Focal impaired awareness seizure
1183	CLCN4	HP:0002342	Intellectual disability, moderate
1183	CLCN4	HP:0002317	Unsteady gait
1183	CLCN4	HP:0006986	Upper limb spasticity
1183	CLCN4	HP:0006970	Periventricular leukomalacia
1183	CLCN4	HP:0000752	Hyperactivity
1183	CLCN4	HP:0000739	Anxiety
1183	CLCN4	HP:0000716	Depression
1183	CLCN4	HP:0000718	Aggressive behavior
1183	CLCN4	HP:0000729	Autistic behavior
1183	CLCN4	HP:0000722	Compulsive behaviors
1183	CLCN4	HP:0000708	Atypical behavior
1183	CLCN4	HP:0000280	Coarse facial features
1183	CLCN4	HP:0000256	Macrocephaly
1183	CLCN4	HP:0000276	Long face
1183	CLCN4	HP:0000252	Microcephaly
1183	CLCN4	HP:0000307	Pointed chin
1183	CLCN4	HP:0000303	Mandibular prognathia
1183	CLCN4	HP:0011193	EEG with focal spikes
1183	CLCN4	HP:0011167	Focal tonic seizure
1183	CLCN4	HP:0000486	Strabismus
1183	CLCN4	HP:0012469	Infantile spasms
1183	CLCN4	HP:0000494	Downslanted palpebral fissures
1183	CLCN4	HP:0012448	Delayed myelination
1183	CLCN4	HP:0001763	Pes planus
1184	CLCN5	HP:0003774	Stage 5 chronic kidney disease
1184	CLCN5	HP:0000083	Renal insufficiency
1184	CLCN5	HP:0000097	Focal segmental glomerulosclerosis
1184	CLCN5	HP:0000096	Glomerular sclerosis
1184	CLCN5	HP:0000092	Renal tubular atrophy
1184	CLCN5	HP:0002663	Delayed epiphyseal ossification
1184	CLCN5	HP:0002653	Bone pain
1184	CLCN5	HP:0025466	Beta 2-microglobulinuria
1184	CLCN5	HP:0000121	Nephrocalcinosis
1184	CLCN5	HP:0000117	Renal phosphate wasting
1184	CLCN5	HP:0000114	Proximal tubulopathy
1184	CLCN5	HP:0002757	Recurrent fractures
1184	CLCN5	HP:0002753	Thin bony cortex
1184	CLCN5	HP:0002752	Sparse bone trabeculae
1184	CLCN5	HP:0001419	X-linked recessive inheritance
1184	CLCN5	HP:0002748	Rickets
1184	CLCN5	HP:0002749	Osteomalacia
1184	CLCN5	HP:0003355	Aminoaciduria
1184	CLCN5	HP:0002150	Hypercalciuria
1184	CLCN5	HP:0002148	Hypophosphatemia
1184	CLCN5	HP:0010502	Fibular bowing
1184	CLCN5	HP:0003677	Slowly progressive
1184	CLCN5	HP:0004912	Hypophosphatemic rickets
1184	CLCN5	HP:0005576	Tubulointerstitial fibrosis
1184	CLCN5	HP:0012622	Chronic kidney disease
1184	CLCN5	HP:0004322	Short stature
1184	CLCN5	HP:0003076	Glycosuria
1184	CLCN5	HP:0003029	Enlargement of the ankles
1184	CLCN5	HP:0003013	Bulging epiphyses
1184	CLCN5	HP:0003025	Metaphyseal irregularity
1184	CLCN5	HP:0003020	Enlargement of the wrists
1184	CLCN5	HP:0000787	Nephrolithiasis
1184	CLCN5	HP:0003109	Hyperphosphaturia
1184	CLCN5	HP:0003126	Low-molecular-weight proteinuria
1184	CLCN5	HP:0003158	Hyposthenuria
1184	CLCN5	HP:0031415	High serum calcitriol
1184	CLCN5	HP:0002907	Microscopic hematuria
1184	CLCN5	HP:0002982	Tibial bowing
1184	CLCN5	HP:0002980	Femoral bowing
1184	CLCN5	HP:0002979	Bowing of the legs
1185	CLCN6	HP:0001137	Alternating esotropia
1185	CLCN6	HP:0009886	Trichorrhexis nodosa
1185	CLCN6	HP:0001290	Generalized hypotonia
1185	CLCN6	HP:0001270	Motor delay
1185	CLCN6	HP:0001250	Seizure
1185	CLCN6	HP:0001263	Global developmental delay
1185	CLCN6	HP:0002553	Highly arched eyebrow
1185	CLCN6	HP:0000011	Neurogenic bladder
1185	CLCN6	HP:0000006	Autosomal dominant inheritance
1185	CLCN6	HP:0008936	Axial hypotonia
1185	CLCN6	HP:0002093	Respiratory insufficiency
1185	CLCN6	HP:0010602	Type 2 muscle fiber predominance
1185	CLCN6	HP:0100704	Cerebral visual impairment
1185	CLCN6	HP:0003557	Increased variability in muscle fiber diameter
1185	CLCN6	HP:0002353	EEG abnormality
1185	CLCN6	HP:0000639	Nystagmus
1185	CLCN6	HP:0000646	Amblyopia
1185	CLCN6	HP:0030680	Abnormality of cardiovascular system morphology
1185	CLCN6	HP:0004370	Abnormality of temperature regulation
1185	CLCN6	HP:0100022	Abnormality of movement
1185	CLCN6	HP:0000763	Sensory neuropathy
1185	CLCN6	HP:0011471	Gastrostomy tube feeding in infancy
1185	CLCN6	HP:0000975	Hyperhidrosis
1185	CLCN6	HP:0000219	Thin upper lip vermilion
1185	CLCN6	HP:0000364	Hearing abnormality
1185	CLCN6	HP:0000343	Long philtrum
1185	CLCN6	HP:0000316	Hypertelorism
1186	CLCN7	HP:0010885	Avascular necrosis
1186	CLCN7	HP:0010862	Delayed fine motor development
1186	CLCN7	HP:0009882	Short distal phalanx of finger
1186	CLCN7	HP:0007209	Facial paralysis
1186	CLCN7	HP:0001293	Cranial nerve compression
1186	CLCN7	HP:0001290	Generalized hypotonia
1186	CLCN7	HP:0001272	Cerebellar atrophy
1186	CLCN7	HP:0031035	Chronic infection
1186	CLCN7	HP:0001373	Joint dislocation
1186	CLCN7	HP:0001369	Arthritis
1186	CLCN7	HP:0001363	Craniosynostosis
1186	CLCN7	HP:0008843	Hip osteoarthritis
1186	CLCN7	HP:0002659	Increased susceptibility to fractures
1186	CLCN7	HP:0000007	Autosomal recessive inheritance
1186	CLCN7	HP:0001337	Tremor
1186	CLCN7	HP:0000006	Autosomal dominant inheritance
1186	CLCN7	HP:0002653	Bone pain
1186	CLCN7	HP:0002644	Abnormal pelvic girdle bone morphology
1186	CLCN7	HP:0000164	Abnormality of the dentition
1186	CLCN7	HP:0007663	Reduced visual acuity
1186	CLCN7	HP:0006323	Premature loss of primary teeth
1186	CLCN7	HP:0007626	Mandibular osteomyelitis
1186	CLCN7	HP:0002757	Recurrent fractures
1186	CLCN7	HP:0002758	Osteoarthritis
1186	CLCN7	HP:0002754	Osteomyelitis
1186	CLCN7	HP:0001433	Hepatosplenomegaly
1186	CLCN7	HP:0002716	Lymphadenopathy
1186	CLCN7	HP:0002007	Frontal bossing
1186	CLCN7	HP:0004618	Sandwich appearance of vertebral bodies
1186	CLCN7	HP:0002092	Pulmonary arterial hypertension
1186	CLCN7	HP:0005930	Abnormal epiphysis morphology
1186	CLCN7	HP:0005916	Abnormal metacarpal morphology
1186	CLCN7	HP:0002148	Hypophosphatemia
1186	CLCN7	HP:0002104	Apnea
1186	CLCN7	HP:0003418	Back pain
1186	CLCN7	HP:0002188	Delayed CNS myelination
1186	CLCN7	HP:0002194	Delayed gross motor development
1186	CLCN7	HP:0010543	Opsoclonus
1186	CLCN7	HP:0003593	Infantile onset
1186	CLCN7	HP:0003577	Congenital onset
1186	CLCN7	HP:0002240	Hepatomegaly
1186	CLCN7	HP:0002257	Chronic rhinitis
1186	CLCN7	HP:0002205	Recurrent respiratory infections
1186	CLCN7	HP:0010719	Abnormality of hair texture
1186	CLCN7	HP:0010628	Facial palsy
1186	CLCN7	HP:0001010	Hypopigmentation of the skin
1186	CLCN7	HP:0004975	Erlenmeyer flask deformity of the femurs
1186	CLCN7	HP:0003623	Neonatal onset
1186	CLCN7	HP:0003621	Juvenile onset
1186	CLCN7	HP:0005528	Bone marrow hypocellularity
1186	CLCN7	HP:0006824	Cranial nerve paralysis
1186	CLCN7	HP:0005599	Hypopigmentation of hair
1186	CLCN7	HP:0005565	Reduced renal corticomedullary differentiation
1186	CLCN7	HP:0000639	Nystagmus
1186	CLCN7	HP:0000649	Abnormality of visual evoked potentials
1186	CLCN7	HP:0000648	Optic atrophy
1186	CLCN7	HP:0000618	Blindness
1186	CLCN7	HP:0001923	Reticulocytosis
1186	CLCN7	HP:0001939	Abnormality of metabolism/homeostasis
1186	CLCN7	HP:0001903	Anemia
1186	CLCN7	HP:0000684	Delayed eruption of teeth
1186	CLCN7	HP:0000689	Dental malocclusion
1186	CLCN7	HP:0000670	Carious teeth
1186	CLCN7	HP:0004322	Short stature
1186	CLCN7	HP:0005652	Cortical sclerosis
1186	CLCN7	HP:0003084	Fractures of the long bones
1186	CLCN7	HP:0004370	Abnormality of temperature regulation
1186	CLCN7	HP:0004349	Reduced bone mineral density
1186	CLCN7	HP:0004348	Abnormality of bone mineral density
1186	CLCN7	HP:0000772	Abnormal rib morphology
1186	CLCN7	HP:0100022	Abnormality of movement
1186	CLCN7	HP:0000707	Abnormality of the nervous system
1186	CLCN7	HP:0011463	Childhood onset
1186	CLCN7	HP:0000774	Narrow chest
1186	CLCN7	HP:0005746	Osteosclerosis of the base of the skull
1186	CLCN7	HP:0004415	Pulmonary artery stenosis
1186	CLCN7	HP:0003155	Elevated circulating alkaline phosphatase concentration
1186	CLCN7	HP:0005789	Generalized osteosclerosis
1186	CLCN7	HP:0003148	Elevated serum acid phosphatase
1186	CLCN7	HP:0004576	Sclerotic vertebral endplates
1186	CLCN7	HP:0000980	Pallor
1186	CLCN7	HP:0000978	Bruising susceptibility
1186	CLCN7	HP:0000957	Cafe-au-lait spot
1186	CLCN7	HP:0000954	Single transverse palmar crease
1186	CLCN7	HP:0000967	Petechiae
1186	CLCN7	HP:0000944	Abnormal metaphysis morphology
1186	CLCN7	HP:0008066	Abnormal blistering of the skin
1186	CLCN7	HP:0000286	Epicanthus
1186	CLCN7	HP:0000256	Macrocephaly
1186	CLCN7	HP:0005106	Abnormality of the vertebral endplates
1186	CLCN7	HP:0000238	Hydrocephalus
1186	CLCN7	HP:0001561	Polyhydramnios
1186	CLCN7	HP:0002857	Genu valgum
1186	CLCN7	HP:0001511	Intrauterine growth retardation
1186	CLCN7	HP:0001510	Growth delay
1186	CLCN7	HP:0007807	Optic nerve compression
1186	CLCN7	HP:0000388	Otitis media
1186	CLCN7	HP:0002901	Hypocalcemia
1186	CLCN7	HP:0006482	Abnormality of dental morphology
1186	CLCN7	HP:0006487	Bowing of the long bones
1186	CLCN7	HP:0000365	Hearing impairment
1186	CLCN7	HP:0011002	Osteopetrosis
1186	CLCN7	HP:0011001	Increased bone mineral density
1186	CLCN7	HP:0000316	Hypertelorism
1186	CLCN7	HP:0001622	Premature birth
1186	CLCN7	HP:0001641	Abnormal pulmonary valve morphology
1186	CLCN7	HP:0007958	Optic atrophy from cranial nerve compression
1186	CLCN7	HP:0001744	Splenomegaly
1186	CLCN7	HP:0000505	Visual impairment
1186	CLCN7	HP:0000572	Visual loss
1186	CLCN7	HP:0001881	Abnormal leukocyte morphology
1186	CLCN7	HP:0000543	Optic disc pallor
1186	CLCN7	HP:0001873	Thrombocytopenia
1187	CLCNKA	HP:0003774	Stage 5 chronic kidney disease
1187	CLCNKA	HP:0008619	Bilateral sensorineural hearing impairment
1187	CLCNKA	HP:0001290	Generalized hypotonia
1187	CLCNKA	HP:0001270	Motor delay
1187	CLCNKA	HP:0001252	Hypotonia
1187	CLCNKA	HP:0001249	Intellectual disability
1187	CLCNKA	HP:0001265	Hyporeflexia
1187	CLCNKA	HP:0000083	Renal insufficiency
1187	CLCNKA	HP:0025335	Delayed ability to stand
1187	CLCNKA	HP:0001324	Muscle weakness
1187	CLCNKA	HP:0000121	Nephrocalcinosis
1187	CLCNKA	HP:0000127	Renal salt wasting
1187	CLCNKA	HP:0000103	Polyuria
1187	CLCNKA	HP:0002013	Vomiting
1187	CLCNKA	HP:0040288	Nasogastric tube feeding
1187	CLCNKA	HP:0002150	Hypercalciuria
1187	CLCNKA	HP:0004727	Impaired renal concentrating ability
1187	CLCNKA	HP:0003577	Congenital onset
1187	CLCNKA	HP:0003527	Hyperprostaglandinuria
1187	CLCNKA	HP:0002312	Clumsiness
1187	CLCNKA	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis
1187	CLCNKA	HP:0012622	Chronic kidney disease
1187	CLCNKA	HP:0012605	Hypernatriuria
1187	CLCNKA	HP:0001944	Dehydration
1187	CLCNKA	HP:0001960	Hypokalemic metabolic alkalosis
1187	CLCNKA	HP:0001919	Acute kidney injury
1187	CLCNKA	HP:0003081	Increased urinary potassium
1187	CLCNKA	HP:0031936	Delayed ability to walk
1187	CLCNKA	HP:0000712	Emotional lability
1187	CLCNKA	HP:0003113	Hypochloremia
1187	CLCNKA	HP:0000859	Hyperaldosteronism
1187	CLCNKA	HP:0000848	Increased circulating renin level
1187	CLCNKA	HP:0000841	Hyperactive renin-angiotensin system
1187	CLCNKA	HP:0000822	Hypertension
1187	CLCNKA	HP:0000969	Edema
1187	CLCNKA	HP:0012213	Decreased glomerular filtration rate
1187	CLCNKA	HP:0001561	Polyhydramnios
1187	CLCNKA	HP:0001563	Fetal polyuria
1187	CLCNKA	HP:0001525	Severe failure to thrive
1187	CLCNKA	HP:0001508	Failure to thrive
1187	CLCNKA	HP:0001518	Small for gestational age
1187	CLCNKA	HP:0002917	Hypomagnesemia
1187	CLCNKA	HP:0002914	Hyperchloriduria
1187	CLCNKA	HP:0002902	Hyponatremia
1187	CLCNKA	HP:0002900	Hypokalemia
1187	CLCNKA	HP:0000325	Triangular face
1187	CLCNKA	HP:0001622	Premature birth
1187	CLCNKA	HP:0000407	Sensorineural hearing impairment
1187	CLCNKA	HP:0000411	Protruding ear
1188	CLCNKB	HP:0003774	Stage 5 chronic kidney disease
1188	CLCNKB	HP:0008619	Bilateral sensorineural hearing impairment
1188	CLCNKB	HP:0001290	Generalized hypotonia
1188	CLCNKB	HP:0001270	Motor delay
1188	CLCNKB	HP:0001279	Syncope
1188	CLCNKB	HP:0001252	Hypotonia
1188	CLCNKB	HP:0001249	Intellectual disability
1188	CLCNKB	HP:0001265	Hyporeflexia
1188	CLCNKB	HP:0001262	Excessive daytime somnolence
1188	CLCNKB	HP:0007359	Focal-onset seizure
1188	CLCNKB	HP:0002514	Cerebral calcification
1188	CLCNKB	HP:0000083	Renal insufficiency
1188	CLCNKB	HP:0000097	Focal segmental glomerulosclerosis
1188	CLCNKB	HP:0000093	Proteinuria
1188	CLCNKB	HP:0025335	Delayed ability to stand
1188	CLCNKB	HP:0000020	Urinary incontinence
1188	CLCNKB	HP:0000017	Nocturia
1188	CLCNKB	HP:0001324	Muscle weakness
1188	CLCNKB	HP:0000007	Autosomal recessive inheritance
1188	CLCNKB	HP:0002632	Low-to-normal blood pressure
1188	CLCNKB	HP:0002619	Varicose veins
1188	CLCNKB	HP:0002615	Hypotension
1188	CLCNKB	HP:0000121	Nephrocalcinosis
1188	CLCNKB	HP:0000128	Renal potassium wasting
1188	CLCNKB	HP:0000127	Renal salt wasting
1188	CLCNKB	HP:0000103	Polyuria
1188	CLCNKB	HP:0002019	Constipation
1188	CLCNKB	HP:0002017	Nausea and vomiting
1188	CLCNKB	HP:0002027	Abdominal pain
1188	CLCNKB	HP:0003326	Myalgia
1188	CLCNKB	HP:0002014	Diarrhea
1188	CLCNKB	HP:0002013	Vomiting
1188	CLCNKB	HP:0003324	Generalized muscle weakness
1188	CLCNKB	HP:0005978	Type II diabetes mellitus
1188	CLCNKB	HP:0002098	Respiratory distress
1188	CLCNKB	HP:0003394	Muscle spasm
1188	CLCNKB	HP:0011736	Primary hyperaldosteronism
1188	CLCNKB	HP:0040288	Nasogastric tube feeding
1188	CLCNKB	HP:0003470	Paralysis
1188	CLCNKB	HP:0002150	Hypercalciuria
1188	CLCNKB	HP:0003401	Paresthesia
1188	CLCNKB	HP:0004727	Impaired renal concentrating ability
1188	CLCNKB	HP:0003593	Infantile onset
1188	CLCNKB	HP:0003577	Congenital onset
1188	CLCNKB	HP:0200114	Metabolic alkalosis
1188	CLCNKB	HP:0003527	Hyperprostaglandinuria
1188	CLCNKB	HP:0100785	Insomnia
1188	CLCNKB	HP:0002321	Vertigo
1188	CLCNKB	HP:0002315	Headache
1188	CLCNKB	HP:0100651	Type I diabetes mellitus
1188	CLCNKB	HP:0100647	Graves disease
1188	CLCNKB	HP:0025072	Prominent U wave
1188	CLCNKB	HP:0009800	Maternal diabetes
1188	CLCNKB	HP:0002312	Clumsiness
1188	CLCNKB	HP:0003621	Juvenile onset
1188	CLCNKB	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis
1188	CLCNKB	HP:0005579	Impaired renal ltubular reabsorption of chloride
1188	CLCNKB	HP:0001970	Tubulointerstitial nephritis
1188	CLCNKB	HP:0012622	Chronic kidney disease
1188	CLCNKB	HP:0001962	Palpitations
1188	CLCNKB	HP:0012605	Hypernatriuria
1188	CLCNKB	HP:0001947	Renal tubular acidosis
1188	CLCNKB	HP:0001944	Dehydration
1188	CLCNKB	HP:0000610	Abnormal choroid morphology
1188	CLCNKB	HP:0001960	Hypokalemic metabolic alkalosis
1188	CLCNKB	HP:0001959	Polydipsia
1188	CLCNKB	HP:0000622	Blurred vision
1188	CLCNKB	HP:0001953	Diabetic ketoacidosis
1188	CLCNKB	HP:0001952	Glucose intolerance
1188	CLCNKB	HP:0001919	Acute kidney injury
1188	CLCNKB	HP:0001994	Renal Fanconi syndrome
1188	CLCNKB	HP:0001997	Gout
1188	CLCNKB	HP:0003081	Increased urinary potassium
1188	CLCNKB	HP:0000805	Enuresis
1188	CLCNKB	HP:0031936	Delayed ability to walk
1188	CLCNKB	HP:0000712	Emotional lability
1188	CLCNKB	HP:0011463	Childhood onset
1188	CLCNKB	HP:0003113	Hypochloremia
1188	CLCNKB	HP:0003127	Hypocalciuria
1188	CLCNKB	HP:0000872	Hashimoto thyroiditis
1188	CLCNKB	HP:0000859	Hyperaldosteronism
1188	CLCNKB	HP:0000855	Insulin resistance
1188	CLCNKB	HP:0100324	Scleroderma
1188	CLCNKB	HP:0000848	Increased circulating renin level
1188	CLCNKB	HP:0000841	Hyperactive renin-angiotensin system
1188	CLCNKB	HP:0000822	Hypertension
1188	CLCNKB	HP:0000823	Delayed puberty
1188	CLCNKB	HP:0030880	Raynaud phenomenon
1188	CLCNKB	HP:0003201	Rhabdomyolysis
1188	CLCNKB	HP:0000975	Hyperhidrosis
1188	CLCNKB	HP:0000969	Edema
1188	CLCNKB	HP:0000934	Chondrocalcinosis
1188	CLCNKB	HP:0008046	Abnormal retinal vascular morphology
1188	CLCNKB	HP:0012248	Prolonged PR interval
1188	CLCNKB	HP:0012250	ST segment depression
1188	CLCNKB	HP:0005135	Abnormal T-wave
1188	CLCNKB	HP:0002829	Arthralgia
1188	CLCNKB	HP:0030083	Salt craving
1188	CLCNKB	HP:0002897	Parathyroid adenoma
1188	CLCNKB	HP:0012213	Decreased glomerular filtration rate
1188	CLCNKB	HP:0002894	Neoplasm of the pancreas
1188	CLCNKB	HP:0001561	Polyhydramnios
1188	CLCNKB	HP:0001563	Fetal polyuria
1188	CLCNKB	HP:0001525	Severe failure to thrive
1188	CLCNKB	HP:0001508	Failure to thrive
1188	CLCNKB	HP:0001518	Small for gestational age
1188	CLCNKB	HP:0012364	Decreased urinary potassium
1188	CLCNKB	HP:0002917	Hypomagnesemia
1188	CLCNKB	HP:0002918	Hypermagnesemia
1188	CLCNKB	HP:0002914	Hyperchloriduria
1188	CLCNKB	HP:0002902	Hyponatremia
1188	CLCNKB	HP:0002900	Hypokalemia
1188	CLCNKB	HP:0002901	Hypocalcemia
1188	CLCNKB	HP:0000360	Tinnitus
1188	CLCNKB	HP:0001698	Pericardial effusion
1188	CLCNKB	HP:0001663	Ventricular fibrillation
1188	CLCNKB	HP:0001657	Prolonged QT interval
1188	CLCNKB	HP:0000325	Triangular face
1188	CLCNKB	HP:0001622	Premature birth
1188	CLCNKB	HP:0000407	Sensorineural hearing impairment
1188	CLCNKB	HP:0000411	Protruding ear
1188	CLCNKB	HP:0006789	Mitochondrial encephalopathy
1188	CLCNKB	HP:0000591	Abnormal sclera morphology
1188	CLCNKB	HP:0001891	Iron deficiency anemia
1193	CLIC2	HP:0001172	Abnormal thumb morphology
1193	CLIC2	HP:0002465	Poor speech
1193	CLIC2	HP:0001250	Seizure
1193	CLIC2	HP:0001263	Global developmental delay
1193	CLIC2	HP:0002540	Inability to walk
1193	CLIC2	HP:0002510	Spastic tetraplegia
1193	CLIC2	HP:0000053	Macroorchidism
1193	CLIC2	HP:0001344	Absent speech
1193	CLIC2	HP:0002751	Kyphoscoliosis
1193	CLIC2	HP:0001419	X-linked recessive inheritance
1193	CLIC2	HP:0003376	Steppage gait
1193	CLIC2	HP:0004749	Atrial flutter
1193	CLIC2	HP:0002187	Intellectual disability, profound
1193	CLIC2	HP:0010808	Protruding tongue
1193	CLIC2	HP:0005781	Contractures of the large joints
1193	CLIC2	HP:0000280	Coarse facial features
1193	CLIC2	HP:0000256	Macrocephaly
1193	CLIC2	HP:0000238	Hydrocephalus
1193	CLIC2	HP:0000232	Everted lower lip vermilion
1193	CLIC2	HP:0000396	Overfolded helix
1193	CLIC2	HP:0005180	Tricuspid regurgitation
1193	CLIC2	HP:0001650	Aortic valve stenosis
1193	CLIC2	HP:0000319	Smooth philtrum
1193	CLIC2	HP:0001653	Mitral regurgitation
1193	CLIC2	HP:0001640	Cardiomegaly
1193	CLIC2	HP:0001635	Congestive heart failure
1193	CLIC2	HP:0000303	Mandibular prognathia
1193	CLIC2	HP:0001634	Mitral valve prolapse
1193	CLIC2	HP:0000400	Macrotia
1193	CLIC2	HP:0005280	Depressed nasal bridge
1193	CLIC2	HP:0000414	Bulbous nose
1193	CLIC2	HP:0000426	Prominent nasal bridge
1193	CLIC2	HP:0006705	Abnormal atrioventricular valve morphology
1200	TPP1	HP:0001152	Saccadic smooth pursuit
1200	TPP1	HP:0002495	Impaired vibratory sensation
1200	TPP1	HP:0007240	Progressive gait ataxia
1200	TPP1	HP:0001272	Cerebellar atrophy
1200	TPP1	HP:0001250	Seizure
1200	TPP1	HP:0001251	Ataxia
1200	TPP1	HP:0001260	Dysarthria
1200	TPP1	HP:0007338	Hypermetric saccades
1200	TPP1	HP:0001347	Hyperreflexia
1200	TPP1	HP:0000012	Urinary urgency
1200	TPP1	HP:0000007	Autosomal recessive inheritance
1200	TPP1	HP:0001336	Myoclonus
1200	TPP1	HP:0001311	Abnormal nervous system electrophysiology
1200	TPP1	HP:0001310	Dysmetria
1200	TPP1	HP:0002015	Dysphagia
1200	TPP1	HP:0002066	Gait ataxia
1200	TPP1	HP:0002074	Increased neuronal autofluorescent lipopigment
1200	TPP1	HP:0002073	Progressive cerebellar ataxia
1200	TPP1	HP:0002070	Limb ataxia
1200	TPP1	HP:0002059	Cerebral atrophy
1200	TPP1	HP:0003487	Babinski sign
1200	TPP1	HP:0002136	Broad-based gait
1200	TPP1	HP:0003463	Increased extraneuronal autofluorescent lipopigment
1200	TPP1	HP:0003445	EMG: neuropathic changes
1200	TPP1	HP:0002168	Scanning speech
1200	TPP1	HP:0002174	Postural tremor
1200	TPP1	HP:0002376	Developmental regression
1200	TPP1	HP:0002355	Difficulty walking
1200	TPP1	HP:0003677	Slowly progressive
1200	TPP1	HP:0002317	Unsteady gait
1200	TPP1	HP:0002312	Clumsiness
1200	TPP1	HP:0000639	Nystagmus
1200	TPP1	HP:0000651	Diplopia
1200	TPP1	HP:0000641	Dysmetric saccades
1200	TPP1	HP:0000657	Oculomotor apraxia
1200	TPP1	HP:0000666	Horizontal nystagmus
1200	TPP1	HP:0000750	Delayed speech and language development
1200	TPP1	HP:0011463	Childhood onset
1200	TPP1	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
1200	TPP1	HP:0030147	Truncal titubation
1200	TPP1	HP:0025708	Early young adult onset
1200	TPP1	HP:0000529	Progressive visual loss
1200	TPP1	HP:0000550	Undetectable electroretinogram
1200	TPP1	HP:0000546	Retinal degeneration
1201	CLN3	HP:0010872	T-wave inversion
1201	CLN3	HP:0001272	Cerebellar atrophy
1201	CLN3	HP:0001268	Mental deterioration
1201	CLN3	HP:0001250	Seizure
1201	CLN3	HP:0001251	Ataxia
1201	CLN3	HP:0001249	Intellectual disability
1201	CLN3	HP:0001260	Dysarthria
1201	CLN3	HP:0007359	Focal-onset seizure
1201	CLN3	HP:0002505	Loss of ambulation
1201	CLN3	HP:0000007	Autosomal recessive inheritance
1201	CLN3	HP:0001336	Myoclonus
1201	CLN3	HP:0001317	Abnormal cerebellum morphology
1201	CLN3	HP:0001300	Parkinsonism
1201	CLN3	HP:0007663	Reduced visual acuity
1201	CLN3	HP:0002015	Dysphagia
1201	CLN3	HP:0002069	Bilateral tonic-clonic seizure
1201	CLN3	HP:0002067	Bradykinesia
1201	CLN3	HP:0002074	Increased neuronal autofluorescent lipopigment
1201	CLN3	HP:0002071	Abnormality of extrapyramidal motor function
1201	CLN3	HP:0002059	Cerebral atrophy
1201	CLN3	HP:0003463	Increased extraneuronal autofluorescent lipopigment
1201	CLN3	HP:0007076	Extrapyramidal muscular rigidity
1201	CLN3	HP:0007058	Generalized cerebral atrophy/hypoplasia
1201	CLN3	HP:0001061	Acne
1201	CLN3	HP:0002367	Visual hallucinations
1201	CLN3	HP:0002362	Shuffling gait
1201	CLN3	HP:0002360	Sleep disturbance
1201	CLN3	HP:0002361	Psychomotor deterioration
1201	CLN3	HP:0001007	Hirsutism
1201	CLN3	HP:0002354	Memory impairment
1201	CLN3	HP:0003621	Juvenile onset
1201	CLN3	HP:0000646	Amblyopia
1201	CLN3	HP:0000648	Optic atrophy
1201	CLN3	HP:0000618	Blindness
1201	CLN3	HP:0001922	Vacuolated lymphocytes
1201	CLN3	HP:0000608	Macular degeneration
1201	CLN3	HP:0000739	Anxiety
1201	CLN3	HP:0000716	Depression
1201	CLN3	HP:0000718	Aggressive behavior
1201	CLN3	HP:0000726	Dementia
1201	CLN3	HP:0000709	Psychosis
1201	CLN3	HP:0011504	Bull's eye maculopathy
1201	CLN3	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
1201	CLN3	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
1201	CLN3	HP:0001583	Rotary nystagmus
1201	CLN3	HP:0002839	Urinary bladder sphincter dysfunction
1201	CLN3	HP:0005157	Concentric hypertrophic cardiomyopathy
1201	CLN3	HP:0032794	Myoclonic seizure
1201	CLN3	HP:0001662	Bradycardia
1201	CLN3	HP:0001712	Left ventricular hypertrophy
1201	CLN3	HP:0000518	Cataract
1201	CLN3	HP:0000510	Rod-cone dystrophy
1201	CLN3	HP:0000529	Progressive visual loss
1201	CLN3	HP:0000501	Glaucoma
1201	CLN3	HP:0030348	Increased circulating androgen concentration
1201	CLN3	HP:0000580	Pigmentary retinopathy
1201	CLN3	HP:0000550	Undetectable electroretinogram
1201	CLN3	HP:0000546	Retinal degeneration
1203	CLN5	HP:0002463	Language impairment
1203	CLN5	HP:0010850	EEG with spike-wave complexes
1203	CLN5	HP:0001272	Cerebellar atrophy
1203	CLN5	HP:0001268	Mental deterioration
1203	CLN5	HP:0001250	Seizure
1203	CLN5	HP:0001251	Ataxia
1203	CLN5	HP:0001249	Intellectual disability
1203	CLN5	HP:0001260	Dysarthria
1203	CLN5	HP:0001257	Spasticity
1203	CLN5	HP:0008770	Obsessive-compulsive trait
1203	CLN5	HP:0007371	Corpus callosum atrophy
1203	CLN5	HP:0007367	Atrophy/Degeneration affecting the central nervous system
1203	CLN5	HP:0007359	Focal-onset seizure
1203	CLN5	HP:0002540	Inability to walk
1203	CLN5	HP:0002505	Loss of ambulation
1203	CLN5	HP:0001347	Hyperreflexia
1203	CLN5	HP:0000007	Autosomal recessive inheritance
1203	CLN5	HP:0001337	Tremor
1203	CLN5	HP:0001336	Myoclonus
1203	CLN5	HP:0001311	Abnormal nervous system electrophysiology
1203	CLN5	HP:0001310	Dysmetria
1203	CLN5	HP:0002078	Truncal ataxia
1203	CLN5	HP:0002074	Increased neuronal autofluorescent lipopigment
1203	CLN5	HP:0002075	Dysdiadochokinesis
1203	CLN5	HP:0002120	Cerebral cortical atrophy
1203	CLN5	HP:0002197	Generalized-onset seizure
1203	CLN5	HP:0002172	Postural instability
1203	CLN5	HP:0200085	Limb tremor
1203	CLN5	HP:0007015	Poor gross motor coordination
1203	CLN5	HP:0002360	Sleep disturbance
1203	CLN5	HP:0002376	Developmental regression
1203	CLN5	HP:0002317	Unsteady gait
1203	CLN5	HP:0002333	Motor deterioration
1203	CLN5	HP:0010841	Multifocal epileptiform discharges
1203	CLN5	HP:0010845	EEG with generalized slow activity
1203	CLN5	HP:0002312	Clumsiness
1203	CLN5	HP:0003621	Juvenile onset
1203	CLN5	HP:0000639	Nystagmus
1203	CLN5	HP:0000649	Abnormality of visual evoked potentials
1203	CLN5	HP:0001922	Vacuolated lymphocytes
1203	CLN5	HP:0000752	Hyperactivity
1203	CLN5	HP:0000738	Hallucinations
1203	CLN5	HP:0000739	Anxiety
1203	CLN5	HP:0000718	Aggressive behavior
1203	CLN5	HP:0000729	Autistic behavior
1203	CLN5	HP:0000708	Atypical behavior
1203	CLN5	HP:0011442	Abnormal central motor function
1203	CLN5	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
1203	CLN5	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
1203	CLN5	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
1203	CLN5	HP:0030891	Periventricular white matter hyperintensities
1203	CLN5	HP:0011193	EEG with focal spikes
1203	CLN5	HP:0011166	Focal myoclonic seizure
1203	CLN5	HP:0000529	Progressive visual loss
1203	CLN5	HP:0000505	Visual impairment
1203	CLN5	HP:0000546	Retinal degeneration
1213	CLTC	HP:0007301	Oromotor apraxia
1213	CLTC	HP:0002421	Poor head control
1213	CLTC	HP:0001298	Encephalopathy
1213	CLTC	HP:0001290	Generalized hypotonia
1213	CLTC	HP:0001273	Abnormal corpus callosum morphology
1213	CLTC	HP:0001268	Mental deterioration
1213	CLTC	HP:0001250	Seizure
1213	CLTC	HP:0001252	Hypotonia
1213	CLTC	HP:0001251	Ataxia
1213	CLTC	HP:0001249	Intellectual disability
1213	CLTC	HP:0001265	Hyporeflexia
1213	CLTC	HP:0001263	Global developmental delay
1213	CLTC	HP:0001257	Spasticity
1213	CLTC	HP:0002540	Inability to walk
1213	CLTC	HP:0002521	Hypsarrhythmia
1213	CLTC	HP:0002509	Limb hypertonia
1213	CLTC	HP:0001332	Dystonia
1213	CLTC	HP:0033725	Thin corpus callosum
1213	CLTC	HP:0001344	Absent speech
1213	CLTC	HP:0001337	Tremor
1213	CLTC	HP:0000006	Autosomal dominant inheritance
1213	CLTC	HP:0001336	Myoclonus
1213	CLTC	HP:0001315	Reduced tendon reflexes
1213	CLTC	HP:0000194	Open mouth
1213	CLTC	HP:0002020	Gastroesophageal reflux
1213	CLTC	HP:0002067	Bradykinesia
1213	CLTC	HP:0002063	Rigidity
1213	CLTC	HP:0002061	Lower limb spasticity
1213	CLTC	HP:0002059	Cerebral atrophy
1213	CLTC	HP:0002136	Broad-based gait
1213	CLTC	HP:0002133	Status epilepticus
1213	CLTC	HP:0002188	Delayed CNS myelination
1213	CLTC	HP:0003593	Infantile onset
1213	CLTC	HP:0100710	Impulsivity
1213	CLTC	HP:0007018	Attention deficit hyperactivity disorder
1213	CLTC	HP:0011968	Feeding difficulties
1213	CLTC	HP:0002385	Paraparesis
1213	CLTC	HP:0002375	Hypokinesia
1213	CLTC	HP:0002376	Developmental regression
1213	CLTC	HP:0002355	Difficulty walking
1213	CLTC	HP:0002317	Unsteady gait
1213	CLTC	HP:0010844	EEG with multifocal slow activity
1213	CLTC	HP:0100660	Dyskinesia
1213	CLTC	HP:0002312	Clumsiness
1213	CLTC	HP:0031843	Bradyphrenia
1213	CLTC	HP:0006879	Pontocerebellar atrophy
1213	CLTC	HP:0000639	Nystagmus
1213	CLTC	HP:0000648	Optic atrophy
1213	CLTC	HP:0000668	Hypodontia
1213	CLTC	HP:0004322	Short stature
1213	CLTC	HP:0006956	Lateral ventricle dilatation
1213	CLTC	HP:0004305	Involuntary movements
1213	CLTC	HP:0000736	Short attention span
1213	CLTC	HP:0000735	Impaired social interactions
1213	CLTC	HP:0000750	Delayed speech and language development
1213	CLTC	HP:0000717	Autism
1213	CLTC	HP:0000708	Atypical behavior
1213	CLTC	HP:0011443	Abnormality of coordination
1213	CLTC	HP:0000252	Microcephaly
1213	CLTC	HP:0000219	Thin upper lip vermilion
1213	CLTC	HP:0000218	High palate
1213	CLTC	HP:0001558	Decreased fetal movement
1213	CLTC	HP:0001508	Failure to thrive
1213	CLTC	HP:0000343	Long philtrum
1213	CLTC	HP:0000338	Hypomimic face
1213	CLTC	HP:0000348	High forehead
1213	CLTC	HP:0000407	Sensorineural hearing impairment
1213	CLTC	HP:0000494	Downslanted palpebral fissures
1213	CLTC	HP:0012448	Delayed myelination
1213	CLTC	HP:0012444	Brain atrophy
1213	CLTC	HP:0012447	Abnormal myelination
1213	CLTC	HP:0000411	Protruding ear
1213	CLTC	HP:0005484	Secondary microcephaly
1213	CLTC	HP:0000508	Ptosis
1213	CLTC	HP:0000505	Visual impairment
1213	CLTC	HP:0000504	Abnormality of vision
1213	CLTC	HP:0000582	Upslanted palpebral fissure
1213	CLTC	HP:0012547	Abnormal involuntary eye movements
1213	CLTC	HP:0000546	Retinal degeneration
1230	CCR1	HP:0007256	Abnormal pyramidal sign
1230	CCR1	HP:0010885	Avascular necrosis
1230	CCR1	HP:0100820	Glomerulopathy
1230	CCR1	HP:0001269	Hemiparesis
1230	CCR1	HP:0001287	Meningitis
1230	CCR1	HP:0001289	Confusion
1230	CCR1	HP:0001288	Gait disturbance
1230	CCR1	HP:0001250	Seizure
1230	CCR1	HP:0001251	Ataxia
1230	CCR1	HP:0002516	Increased intracranial pressure
1230	CCR1	HP:0000083	Renal insufficiency
1230	CCR1	HP:0001369	Arthritis
1230	CCR1	HP:0001347	Hyperreflexia
1230	CCR1	HP:0002637	Cerebral ischemia
1230	CCR1	HP:0002633	Vasculitis
1230	CCR1	HP:0000155	Oral ulcer
1230	CCR1	HP:0001482	Subcutaneous nodule
1230	CCR1	HP:0002716	Lymphadenopathy
1230	CCR1	HP:0002024	Malabsorption
1230	CCR1	HP:0002017	Nausea and vomiting
1230	CCR1	HP:0002027	Abdominal pain
1230	CCR1	HP:0003326	Myalgia
1230	CCR1	HP:0002076	Migraine
1230	CCR1	HP:0002039	Anorexia
1230	CCR1	HP:0100584	Endocarditis
1230	CCR1	HP:0002102	Pleuritis
1230	CCR1	HP:0002113	Pulmonary infiltrates
1230	CCR1	HP:0002105	Hemoptysis
1230	CCR1	HP:0003401	Paresthesia
1230	CCR1	HP:0002239	Gastrointestinal hemorrhage
1230	CCR1	HP:0002202	Pleural effusion
1230	CCR1	HP:0002204	Pulmonary embolism
1230	CCR1	HP:0100796	Orchitis
1230	CCR1	HP:0100758	Gangrene
1230	CCR1	HP:0002383	Infectious encephalitis
1230	CCR1	HP:0001061	Acne
1230	CCR1	HP:0002376	Developmental regression
1230	CCR1	HP:0002354	Memory impairment
1230	CCR1	HP:0002321	Vertigo
1230	CCR1	HP:0100653	Optic neuritis
1230	CCR1	HP:0100654	Retrobulbar optic neuritis
1230	CCR1	HP:0200034	Papule
1230	CCR1	HP:0001097	Keratoconjunctivitis sicca
1230	CCR1	HP:0100614	Myositis
1230	CCR1	HP:0004936	Venous thrombosis
1230	CCR1	HP:0006824	Cranial nerve paralysis
1230	CCR1	HP:0000618	Blindness
1230	CCR1	HP:0000613	Photophobia
1230	CCR1	HP:0001945	Fever
1230	CCR1	HP:0012649	Increased inflammatory response
1230	CCR1	HP:0000737	Irritability
1230	CCR1	HP:0000708	Atypical behavior
1230	CCR1	HP:0004420	Arterial thrombosis
1230	CCR1	HP:0100326	Immunologic hypersensitivity
1230	CCR1	HP:0008066	Abnormal blistering of the skin
1230	CCR1	HP:0002829	Arthralgia
1230	CCR1	HP:0012378	Fatigue
1230	CCR1	HP:0001658	Myocardial infarction
1230	CCR1	HP:0001659	Aortic regurgitation
1230	CCR1	HP:0001653	Mitral regurgitation
1230	CCR1	HP:0001637	Abnormal myocardium morphology
1230	CCR1	HP:0001733	Pancreatitis
1230	CCR1	HP:0001701	Pericarditis
1230	CCR1	HP:0000488	Retinopathy
1230	CCR1	HP:0011107	Recurrent aphthous stomatitis
1230	CCR1	HP:0001744	Splenomegaly
1230	CCR1	HP:0000518	Cataract
1230	CCR1	HP:0001824	Weight loss
1235	CCR6	HP:0100958	Narrow foramen obturatorium
1235	CCR6	HP:0000083	Renal insufficiency
1235	CCR6	HP:0001371	Flexion contracture
1235	CCR6	HP:0001369	Arthritis
1235	CCR6	HP:0001324	Muscle weakness
1235	CCR6	HP:0002797	Osteolysis
1235	CCR6	HP:0002024	Malabsorption
1235	CCR6	HP:0002020	Gastroesophageal reflux
1235	CCR6	HP:0002017	Nausea and vomiting
1235	CCR6	HP:0002015	Dysphagia
1235	CCR6	HP:0002094	Dyspnea
1235	CCR6	HP:0002092	Pulmonary arterial hypertension
1235	CCR6	HP:0100520	Oliguria
1235	CCR6	HP:0100585	Telangiectasia of the skin
1235	CCR6	HP:0100579	Mucosal telangiectasiae
1235	CCR6	HP:0009473	Joint contracture of the hand
1235	CCR6	HP:0002113	Pulmonary infiltrates
1235	CCR6	HP:0002206	Pulmonary fibrosis
1235	CCR6	HP:0100735	Hypertensive crisis
1235	CCR6	HP:0008366	Foot joint contracture
1235	CCR6	HP:0001053	Hypopigmented skin patches
1235	CCR6	HP:0001000	Abnormality of skin pigmentation
1235	CCR6	HP:0200042	Skin ulcer
1235	CCR6	HP:0000670	Carious teeth
1235	CCR6	HP:0000951	Abnormality of the skin
1235	CCR6	HP:0002829	Arthralgia
1235	CCR6	HP:0000217	Xerostomia
1235	CCR6	HP:0030016	Dyspareunia
1235	CCR6	HP:0030142	Abnormal bowel sounds
1235	CCR6	HP:0002960	Autoimmunity
1235	CCR6	HP:0001635	Congestive heart failure
1244	ABCC2	HP:0001392	Abnormality of the liver
1244	ABCC2	HP:0012086	Abnormal urinary color
1244	ABCC2	HP:0000007	Autosomal recessive inheritance
1244	ABCC2	HP:0002027	Abdominal pain
1244	ABCC2	HP:0002240	Hepatomegaly
1244	ABCC2	HP:0001080	Biliary tract abnormality
1244	ABCC2	HP:0004295	Abnormal gastric mucosa morphology
1244	ABCC2	HP:0001945	Fever
1244	ABCC2	HP:0001928	Abnormality of coagulation
1244	ABCC2	HP:0000952	Jaundice
1244	ABCC2	HP:0012378	Fatigue
1244	ABCC2	HP:0002908	Conjugated hyperbilirubinemia
1258	CNGB1	HP:0001249	Intellectual disability
1258	CNGB1	HP:0008736	Hypoplasia of penis
1258	CNGB1	HP:0001347	Hyperreflexia
1258	CNGB1	HP:0000035	Abnormal testis morphology
1258	CNGB1	HP:0000007	Autosomal recessive inheritance
1258	CNGB1	HP:0000135	Hypogonadism
1258	CNGB1	HP:0007675	Progressive night blindness
1258	CNGB1	HP:0005978	Type II diabetes mellitus
1258	CNGB1	HP:0000639	Nystagmus
1258	CNGB1	HP:0000648	Optic atrophy
1258	CNGB1	HP:0000618	Blindness
1258	CNGB1	HP:0000613	Photophobia
1258	CNGB1	HP:0000608	Macular degeneration
1258	CNGB1	HP:0000602	Ophthalmoplegia
1258	CNGB1	HP:0000662	Nyctalopia
1258	CNGB1	HP:0000842	Hyperinsulinemia
1258	CNGB1	HP:0000987	Atypical scarring of skin
1258	CNGB1	HP:0008046	Abnormal retinal vascular morphology
1258	CNGB1	HP:0007703	Abnormality of retinal pigmentation
1258	CNGB1	HP:0007737	Bone spicule pigmentation of the retina
1258	CNGB1	HP:0001513	Obesity
1258	CNGB1	HP:0007994	Peripheral visual field loss
1258	CNGB1	HP:0000407	Sensorineural hearing impairment
1258	CNGB1	HP:0000405	Conductive hearing impairment
1258	CNGB1	HP:0000463	Anteverted nares
1258	CNGB1	HP:0000431	Wide nasal bridge
1258	CNGB1	HP:0000518	Cataract
1258	CNGB1	HP:0000510	Rod-cone dystrophy
1258	CNGB1	HP:0000512	Abnormal electroretinogram
1258	CNGB1	HP:0000505	Visual impairment
1258	CNGB1	HP:0000501	Glaucoma
1258	CNGB1	HP:0000563	Keratoconus
1259	CNGA1	HP:0001133	Constriction of peripheral visual field
1259	CNGA1	HP:0001249	Intellectual disability
1259	CNGA1	HP:0008736	Hypoplasia of penis
1259	CNGA1	HP:0001347	Hyperreflexia
1259	CNGA1	HP:0000035	Abnormal testis morphology
1259	CNGA1	HP:0000007	Autosomal recessive inheritance
1259	CNGA1	HP:0000006	Autosomal dominant inheritance
1259	CNGA1	HP:0000135	Hypogonadism
1259	CNGA1	HP:0007675	Progressive night blindness
1259	CNGA1	HP:0007663	Reduced visual acuity
1259	CNGA1	HP:0001419	X-linked recessive inheritance
1259	CNGA1	HP:0005978	Type II diabetes mellitus
1259	CNGA1	HP:0000639	Nystagmus
1259	CNGA1	HP:0000648	Optic atrophy
1259	CNGA1	HP:0000618	Blindness
1259	CNGA1	HP:0000613	Photophobia
1259	CNGA1	HP:0000602	Ophthalmoplegia
1259	CNGA1	HP:0000662	Nyctalopia
1259	CNGA1	HP:0000842	Hyperinsulinemia
1259	CNGA1	HP:0000987	Atypical scarring of skin
1259	CNGA1	HP:0008046	Abnormal retinal vascular morphology
1259	CNGA1	HP:0007703	Abnormality of retinal pigmentation
1259	CNGA1	HP:0007737	Bone spicule pigmentation of the retina
1259	CNGA1	HP:0001513	Obesity
1259	CNGA1	HP:0007843	Attenuation of retinal blood vessels
1259	CNGA1	HP:0031605	Abnormality of fundus pigmentation
1259	CNGA1	HP:0007994	Peripheral visual field loss
1259	CNGA1	HP:0000407	Sensorineural hearing impairment
1259	CNGA1	HP:0000405	Conductive hearing impairment
1259	CNGA1	HP:0000463	Anteverted nares
1259	CNGA1	HP:0000431	Wide nasal bridge
1259	CNGA1	HP:0000518	Cataract
1259	CNGA1	HP:0000510	Rod-cone dystrophy
1259	CNGA1	HP:0000512	Abnormal electroretinogram
1259	CNGA1	HP:0000505	Visual impairment
1259	CNGA1	HP:0000501	Glaucoma
1259	CNGA1	HP:0000563	Keratoconus
1259	CNGA1	HP:0000543	Optic disc pallor
1261	CNGA3	HP:0001103	Abnormal macular morphology
1261	CNGA3	HP:0012047	Hemeralopia
1261	CNGA3	HP:0012043	Pendular nystagmus
1261	CNGA3	HP:0000007	Autosomal recessive inheritance
1261	CNGA3	HP:0007663	Reduced visual acuity
1261	CNGA3	HP:0500041	Myopic astigmatism
1261	CNGA3	HP:0500087	Peripapillary atrophy
1261	CNGA3	HP:0000639	Nystagmus
1261	CNGA3	HP:0000613	Photophobia
1261	CNGA3	HP:0000603	Central scotoma
1261	CNGA3	HP:0030465	Undetectable light-adapted electroretinogram
1261	CNGA3	HP:0000662	Nyctalopia
1261	CNGA3	HP:0030620	Inner retinal layer loss on macular OCT
1261	CNGA3	HP:0030584	Color vision test abnormality
1261	CNGA3	HP:0011463	Childhood onset
1261	CNGA3	HP:0011516	Achromatopsia
1261	CNGA3	HP:0030825	Absent foveal reflex
1261	CNGA3	HP:0034362	Dull foveal reflex
1261	CNGA3	HP:0007722	Retinal pigment epithelial atrophy
1261	CNGA3	HP:0007703	Abnormality of retinal pigmentation
1261	CNGA3	HP:0025549	Eccentric visual fixation
1261	CNGA3	HP:0007750	Hypoplasia of the fovea
1261	CNGA3	HP:0007695	Abnormal pupillary light reflex
1261	CNGA3	HP:0007843	Attenuation of retinal blood vessels
1261	CNGA3	HP:0007814	Retinal pigment epithelial mottling
1261	CNGA3	HP:0007803	Monochromacy
1261	CNGA3	HP:0030329	Retinal thinning
1261	CNGA3	HP:0000505	Visual impairment
1261	CNGA3	HP:0000540	Hypermetropia
1261	CNGA3	HP:0000539	Abnormality of refraction
1261	CNGA3	HP:0000551	Color vision defect
1261	CNGA3	HP:0000545	Myopia
1267	CNP	HP:0001276	Hypertonia
1267	CNP	HP:0001272	Cerebellar atrophy
1267	CNP	HP:0002510	Spastic tetraplegia
1267	CNP	HP:0001348	Brisk reflexes
1267	CNP	HP:0001332	Dystonia
1267	CNP	HP:0000007	Autosomal recessive inheritance
1267	CNP	HP:0002650	Scoliosis
1267	CNP	HP:0002079	Hypoplasia of the corpus callosum
1267	CNP	HP:0003487	Babinski sign
1267	CNP	HP:0011968	Feeding difficulties
1267	CNP	HP:0002376	Developmental regression
1267	CNP	HP:0001007	Hirsutism
1267	CNP	HP:0000737	Irritability
1267	CNP	HP:0012706	Elevated brain choline level by MRS
1267	CNP	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
1267	CNP	HP:0011463	Childhood onset
1267	CNP	HP:0000280	Coarse facial features
1267	CNP	HP:0030081	Punctate periventricular T2 hyperintense foci
1267	CNP	HP:0000253	Progressive microcephaly
1267	CNP	HP:0012450	Chronic constipation
1267	CNP	HP:0000473	Torticollis
1267	CNP	HP:0000508	Ptosis
1272	CNTN1	HP:0001166	Arachnodactyly
1272	CNTN1	HP:0001284	Areflexia
1272	CNTN1	HP:0001252	Hypotonia
1272	CNTN1	HP:0001263	Global developmental delay
1272	CNTN1	HP:0001324	Muscle weakness
1272	CNTN1	HP:0000007	Autosomal recessive inheritance
1272	CNTN1	HP:0001319	Neonatal hypotonia
1272	CNTN1	HP:0002705	High, narrow palate
1272	CNTN1	HP:0002747	Respiratory insufficiency due to muscle weakness
1272	CNTN1	HP:0002033	Poor suck
1272	CNTN1	HP:0009473	Joint contracture of the hand
1272	CNTN1	HP:0010557	Overlapping fingers
1272	CNTN1	HP:0003593	Infantile onset
1272	CNTN1	HP:0033333	Jaw contracture
1272	CNTN1	HP:0011968	Feeding difficulties
1272	CNTN1	HP:0003623	Neonatal onset
1272	CNTN1	HP:0002304	Akinesia
1272	CNTN1	HP:0001989	Fetal akinesia sequence
1272	CNTN1	HP:0004415	Pulmonary artery stenosis
1272	CNTN1	HP:0030799	Scaphocephaly
1272	CNTN1	HP:0040081	Abnormal circulating creatine kinase concentration
1272	CNTN1	HP:0000268	Dolichocephaly
1272	CNTN1	HP:0000218	High palate
1272	CNTN1	HP:0001561	Polyhydramnios
1272	CNTN1	HP:0001558	Decreased fetal movement
1272	CNTN1	HP:0001522	Death in infancy
1272	CNTN1	HP:0001518	Small for gestational age
1272	CNTN1	HP:0012385	Camptodactyly
1272	CNTN1	HP:0000316	Hypertelorism
1272	CNTN1	HP:0001622	Premature birth
1272	CNTN1	HP:0000300	Oval face
1277	COL1A1	HP:0003771	Pulp calcification
1277	COL1A1	HP:0100963	Hyperesthesia
1277	COL1A1	HP:0001290	Generalized hypotonia
1277	COL1A1	HP:0001278	Orthostatic hypotension
1277	COL1A1	HP:0001270	Motor delay
1277	COL1A1	HP:0001252	Hypotonia
1277	COL1A1	HP:0003834	Shoulder dislocation
1277	COL1A1	HP:0001373	Joint dislocation
1277	COL1A1	HP:0001386	Joint swelling
1277	COL1A1	HP:0001385	Hip dysplasia
1277	COL1A1	HP:0001388	Joint laxity
1277	COL1A1	HP:0001387	Joint stiffness
1277	COL1A1	HP:0001382	Joint hypermobility
1277	COL1A1	HP:0000023	Inguinal hernia
1277	COL1A1	HP:0000015	Bladder diverticulum
1277	COL1A1	HP:0002691	Platybasia
1277	COL1A1	HP:0008873	Disproportionate short-limb short stature
1277	COL1A1	HP:0008872	Feeding difficulties in infancy
1277	COL1A1	HP:0007495	Prematurely aged appearance
1277	COL1A1	HP:0008780	Congenital bilateral hip dislocation
1277	COL1A1	HP:0002659	Increased susceptibility to fractures
1277	COL1A1	HP:0001324	Muscle weakness
1277	COL1A1	HP:0002673	Coxa valga
1277	COL1A1	HP:0000006	Autosomal dominant inheritance
1277	COL1A1	HP:0002650	Scoliosis
1277	COL1A1	HP:0002645	Wormian bones
1277	COL1A1	HP:0002644	Abnormal pelvic girdle bone morphology
1277	COL1A1	HP:0002616	Aortic root aneurysm
1277	COL1A1	HP:0008921	Neonatal short-limb short stature
1277	COL1A1	HP:0001476	Delayed closure of the anterior fontanelle
1277	COL1A1	HP:0000139	Uterine prolapse
1277	COL1A1	HP:0001482	Subcutaneous nodule
1277	COL1A1	HP:0005005	Femoral bowing present at birth, straightening with time
1277	COL1A1	HP:0006243	Phalangeal dislocation
1277	COL1A1	HP:0002761	Generalized joint laxity
1277	COL1A1	HP:0002757	Recurrent fractures
1277	COL1A1	HP:0002758	Osteoarthritis
1277	COL1A1	HP:0002020	Gastroesophageal reflux
1277	COL1A1	HP:0002018	Nausea
1277	COL1A1	HP:0002036	Hiatus hernia
1277	COL1A1	HP:0002035	Rectal prolapse
1277	COL1A1	HP:0002013	Vomiting
1277	COL1A1	HP:0002007	Frontal bossing
1277	COL1A1	HP:0003321	Biconcave flattened vertebrae
1277	COL1A1	HP:0011800	Midface retrusion
1277	COL1A1	HP:0100541	Femoral hernia
1277	COL1A1	HP:0002092	Pulmonary arterial hypertension
1277	COL1A1	HP:0002093	Respiratory insufficiency
1277	COL1A1	HP:0003394	Muscle spasm
1277	COL1A1	HP:0010444	Pulmonary insufficiency
1277	COL1A1	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger
1277	COL1A1	HP:0002194	Delayed gross motor development
1277	COL1A1	HP:0010547	Muscle flaccidity
1277	COL1A1	HP:0010529	Echolalia
1277	COL1A1	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger
1277	COL1A1	HP:0003577	Congenital onset
1277	COL1A1	HP:0004872	Incisional hernia
1277	COL1A1	HP:0010702	Increased circulating antibody level
1277	COL1A1	HP:0010648	Dermal translucency
1277	COL1A1	HP:0003510	Severe short stature
1277	COL1A1	HP:0003502	Mild short stature
1277	COL1A1	HP:0001058	Poor wound healing
1277	COL1A1	HP:0002381	Aphasia
1277	COL1A1	HP:0025019	Arterial rupture
1277	COL1A1	HP:0001063	Acrocyanosis
1277	COL1A1	HP:0025014	Subcutaneous spheroids
1277	COL1A1	HP:0001065	Striae distensae
1277	COL1A1	HP:0001030	Fragile skin
1277	COL1A1	HP:0001027	Soft, doughy skin
1277	COL1A1	HP:0002315	Headache
1277	COL1A1	HP:0001001	Abnormality of subcutaneous fat tissue
1277	COL1A1	HP:0100658	Cellulitis
1277	COL1A1	HP:0009826	Limb undergrowth
1277	COL1A1	HP:0001073	Cigarette-paper scars
1277	COL1A1	HP:0001075	Atrophic scars
1277	COL1A1	HP:0001072	Thickened skin
1277	COL1A1	HP:0200042	Skin ulcer
1277	COL1A1	HP:0010783	Erythema
1277	COL1A1	HP:0032153	Joint subluxation
1277	COL1A1	HP:0010750	Dermatochalasis
1277	COL1A1	HP:0010754	Abnormality of the temporomandibular joint
1277	COL1A1	HP:0100699	Scarring
1277	COL1A1	HP:0010749	Blepharochalasis
1277	COL1A1	HP:0009763	Limb pain
1277	COL1A1	HP:0002300	Mutism
1277	COL1A1	HP:0004947	Arteriovenous fistula
1277	COL1A1	HP:0004944	Dilatation of the cerebral artery
1277	COL1A1	HP:0004942	Aortic aneurysm
1277	COL1A1	HP:0031869	Recurrent joint dislocation
1277	COL1A1	HP:0001945	Fever
1277	COL1A1	HP:0004322	Short stature
1277	COL1A1	HP:0005623	Absent ossification of calvaria
1277	COL1A1	HP:0005622	Broad long bones
1277	COL1A1	HP:0003088	Premature osteoarthritis
1277	COL1A1	HP:0003083	Dislocated radial head
1277	COL1A1	HP:0005692	Joint hyperflexibility
1277	COL1A1	HP:0003010	Prolonged bleeding time
1277	COL1A1	HP:0003023	Bowing of limbs due to multiple fractures
1277	COL1A1	HP:0004349	Reduced bone mineral density
1277	COL1A1	HP:0000708	Atypical behavior
1277	COL1A1	HP:0000703	Dentinogenesis imperfecta
1277	COL1A1	HP:0011463	Childhood onset
1277	COL1A1	HP:0003100	Slender long bone
1277	COL1A1	HP:0005758	Basilar impression
1277	COL1A1	HP:0005731	Cortical irregularity
1277	COL1A1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
1277	COL1A1	HP:0000926	Platyspondyly
1277	COL1A1	HP:0000923	Beaded ribs
1277	COL1A1	HP:0003179	Protrusio acetabuli
1277	COL1A1	HP:0004490	Calvarial hyperostosis
1277	COL1A1	HP:0005791	Cortical thickening of long bone diaphyses
1277	COL1A1	HP:0000883	Thin ribs
1277	COL1A1	HP:0005897	Severe generalized osteoporosis
1277	COL1A1	HP:0005855	Multiple prenatal fractures
1277	COL1A1	HP:0004586	Biconcave vertebral bodies
1277	COL1A1	HP:0000993	Molluscoid pseudotumors
1277	COL1A1	HP:0000978	Bruising susceptibility
1277	COL1A1	HP:0000974	Hyperextensible skin
1277	COL1A1	HP:0000963	Thin skin
1277	COL1A1	HP:0000939	Osteoporosis
1277	COL1A1	HP:0000938	Osteopenia
1277	COL1A1	HP:0100244	Fibrosarcoma
1277	COL1A1	HP:0008069	Neoplasm of the skin
1277	COL1A1	HP:0000286	Epicanthus
1277	COL1A1	HP:0000278	Retrognathia
1277	COL1A1	HP:0001591	Bell-shaped thorax
1277	COL1A1	HP:0000260	Wide anterior fontanel
1277	COL1A1	HP:0000272	Malar flattening
1277	COL1A1	HP:0006465	Periosteal thickening of long tubular bones
1277	COL1A1	HP:0002812	Coxa vara
1277	COL1A1	HP:0002829	Arthralgia
1277	COL1A1	HP:0002827	Hip dislocation
1277	COL1A1	HP:0002808	Kyphosis
1277	COL1A1	HP:0006367	Crumpled long bones
1277	COL1A1	HP:0000239	Large fontanelles
1277	COL1A1	HP:0030009	Cervical insufficiency
1277	COL1A1	HP:0025509	Piezogenic pedal papules
1277	COL1A1	HP:0001537	Umbilical hernia
1277	COL1A1	HP:0031364	Ecchymosis
1277	COL1A1	HP:0001507	Growth abnormality
1277	COL1A1	HP:0001518	Small for gestational age
1277	COL1A1	HP:0012378	Fatigue
1277	COL1A1	HP:0005257	Thoracic hypoplasia
1277	COL1A1	HP:0005191	Congenital knee dislocation
1277	COL1A1	HP:0000362	Otosclerosis
1277	COL1A1	HP:0000365	Hearing impairment
1277	COL1A1	HP:0002999	Patellar dislocation
1277	COL1A1	HP:0000347	Micrognathia
1277	COL1A1	HP:0002982	Tibial bowing
1277	COL1A1	HP:0002980	Femoral bowing
1277	COL1A1	HP:0002979	Bowing of the legs
1277	COL1A1	HP:0000316	Hypertelorism
1277	COL1A1	HP:0001653	Mitral regurgitation
1277	COL1A1	HP:0000325	Triangular face
1277	COL1A1	HP:0000324	Facial asymmetry
1277	COL1A1	HP:0031485	Subperiosteal bone formation
1277	COL1A1	HP:0001623	Breech presentation
1277	COL1A1	HP:0001622	Premature birth
1277	COL1A1	HP:0001635	Congestive heart failure
1277	COL1A1	HP:0001631	Atrial septal defect
1277	COL1A1	HP:0001634	Mitral valve prolapse
1277	COL1A1	HP:0031653	Abnormal heart valve physiology
1277	COL1A1	HP:0001704	Tricuspid valve prolapse
1277	COL1A1	HP:0005294	Arterial dissection
1277	COL1A1	HP:0005280	Depressed nasal bridge
1277	COL1A1	HP:0000481	Abnormal cornea morphology
1277	COL1A1	HP:0001790	Nonimmune hydrops fetalis
1277	COL1A1	HP:0012450	Chronic constipation
1277	COL1A1	HP:0001788	Premature rupture of membranes
1277	COL1A1	HP:0001763	Pes planus
1277	COL1A1	HP:0000444	Convex nasal ridge
1277	COL1A1	HP:0001760	Abnormal foot morphology
1277	COL1A1	HP:0001762	Talipes equinovarus
1277	COL1A1	HP:0005474	Decreased calvarial ossification
1277	COL1A1	HP:0000520	Proptosis
1277	COL1A1	HP:0001822	Hallux valgus
1277	COL1A1	HP:0000592	Blue sclerae
1278	COL1A2	HP:0001187	Hyperextensibility of the finger joints
1278	COL1A2	HP:0001290	Generalized hypotonia
1278	COL1A2	HP:0100807	Long fingers
1278	COL1A2	HP:0001250	Seizure
1278	COL1A2	HP:0001252	Hypotonia
1278	COL1A2	HP:0001263	Global developmental delay
1278	COL1A2	HP:0006109	Absent phalangeal crease
1278	COL1A2	HP:0001373	Joint dislocation
1278	COL1A2	HP:0001385	Hip dysplasia
1278	COL1A2	HP:0001388	Joint laxity
1278	COL1A2	HP:0001387	Joint stiffness
1278	COL1A2	HP:0001382	Joint hypermobility
1278	COL1A2	HP:0000023	Inguinal hernia
1278	COL1A2	HP:0000015	Bladder diverticulum
1278	COL1A2	HP:0002691	Platybasia
1278	COL1A2	HP:0008873	Disproportionate short-limb short stature
1278	COL1A2	HP:0006201	Hypermobility of distal interphalangeal joints
1278	COL1A2	HP:0002659	Increased susceptibility to fractures
1278	COL1A2	HP:0002673	Coxa valga
1278	COL1A2	HP:0000007	Autosomal recessive inheritance
1278	COL1A2	HP:0000006	Autosomal dominant inheritance
1278	COL1A2	HP:0002650	Scoliosis
1278	COL1A2	HP:0002645	Wormian bones
1278	COL1A2	HP:0002644	Abnormal pelvic girdle bone morphology
1278	COL1A2	HP:0002616	Aortic root aneurysm
1278	COL1A2	HP:0008921	Neonatal short-limb short stature
1278	COL1A2	HP:0005005	Femoral bowing present at birth, straightening with time
1278	COL1A2	HP:0500041	Myopic astigmatism
1278	COL1A2	HP:0002757	Recurrent fractures
1278	COL1A2	HP:0002751	Kyphoscoliosis
1278	COL1A2	HP:0002007	Frontal bossing
1278	COL1A2	HP:0003307	Hyperlordosis
1278	COL1A2	HP:0003321	Biconcave flattened vertebrae
1278	COL1A2	HP:0100541	Femoral hernia
1278	COL1A2	HP:0100550	Tendon rupture
1278	COL1A2	HP:0002094	Dyspnea
1278	COL1A2	HP:0002092	Pulmonary arterial hypertension
1278	COL1A2	HP:0002093	Respiratory insufficiency
1278	COL1A2	HP:0010444	Pulmonary insufficiency
1278	COL1A2	HP:0002194	Delayed gross motor development
1278	COL1A2	HP:0010547	Muscle flaccidity
1278	COL1A2	HP:0010529	Echolalia
1278	COL1A2	HP:0003577	Congenital onset
1278	COL1A2	HP:0010648	Dermal translucency
1278	COL1A2	HP:0003510	Severe short stature
1278	COL1A2	HP:0001058	Poor wound healing
1278	COL1A2	HP:0002381	Aphasia
1278	COL1A2	HP:0025019	Arterial rupture
1278	COL1A2	HP:0001030	Fragile skin
1278	COL1A2	HP:0001027	Soft, doughy skin
1278	COL1A2	HP:0002342	Intellectual disability, moderate
1278	COL1A2	HP:0001001	Abnormality of subcutaneous fat tissue
1278	COL1A2	HP:0009826	Limb undergrowth
1278	COL1A2	HP:0001075	Atrophic scars
1278	COL1A2	HP:0032153	Joint subluxation
1278	COL1A2	HP:0100699	Scarring
1278	COL1A2	HP:0002300	Mutism
1278	COL1A2	HP:0000678	Dental crowding
1278	COL1A2	HP:0004322	Short stature
1278	COL1A2	HP:0005623	Absent ossification of calvaria
1278	COL1A2	HP:0005622	Broad long bones
1278	COL1A2	HP:0005692	Joint hyperflexibility
1278	COL1A2	HP:0003023	Bowing of limbs due to multiple fractures
1278	COL1A2	HP:0004349	Reduced bone mineral density
1278	COL1A2	HP:0000767	Pectus excavatum
1278	COL1A2	HP:0012717	Severe conductive hearing impairment
1278	COL1A2	HP:0000703	Dentinogenesis imperfecta
1278	COL1A2	HP:0011463	Childhood onset
1278	COL1A2	HP:0003100	Slender long bone
1278	COL1A2	HP:0005758	Basilar impression
1278	COL1A2	HP:0005743	Avascular necrosis of the capital femoral epiphysis
1278	COL1A2	HP:0000926	Platyspondyly
1278	COL1A2	HP:0000923	Beaded ribs
1278	COL1A2	HP:0003179	Protrusio acetabuli
1278	COL1A2	HP:0000883	Thin ribs
1278	COL1A2	HP:0005897	Severe generalized osteoporosis
1278	COL1A2	HP:0005855	Multiple prenatal fractures
1278	COL1A2	HP:0004586	Biconcave vertebral bodies
1278	COL1A2	HP:0000978	Bruising susceptibility
1278	COL1A2	HP:0000977	Soft skin
1278	COL1A2	HP:0000974	Hyperextensible skin
1278	COL1A2	HP:0000963	Thin skin
1278	COL1A2	HP:0000939	Osteoporosis
1278	COL1A2	HP:0000286	Epicanthus
1278	COL1A2	HP:0000278	Retrognathia
1278	COL1A2	HP:0001591	Bell-shaped thorax
1278	COL1A2	HP:0000260	Wide anterior fontanel
1278	COL1A2	HP:0002816	Genu recurvatum
1278	COL1A2	HP:0002812	Coxa vara
1278	COL1A2	HP:0002827	Hip dislocation
1278	COL1A2	HP:0002808	Kyphosis
1278	COL1A2	HP:0006367	Crumpled long bones
1278	COL1A2	HP:0000239	Large fontanelles
1278	COL1A2	HP:0000218	High palate
1278	COL1A2	HP:0002857	Genu valgum
1278	COL1A2	HP:0001519	Disproportionate tall stature
1278	COL1A2	HP:0001518	Small for gestational age
1278	COL1A2	HP:0012378	Fatigue
1278	COL1A2	HP:0005257	Thoracic hypoplasia
1278	COL1A2	HP:0002944	Thoracolumbar scoliosis
1278	COL1A2	HP:0005180	Tricuspid regurgitation
1278	COL1A2	HP:0000362	Otosclerosis
1278	COL1A2	HP:0000365	Hearing impairment
1278	COL1A2	HP:0000347	Micrognathia
1278	COL1A2	HP:0002982	Tibial bowing
1278	COL1A2	HP:0000316	Hypertelorism
1278	COL1A2	HP:0001659	Aortic regurgitation
1278	COL1A2	HP:0001654	Abnormal heart valve morphology
1278	COL1A2	HP:0001653	Mitral regurgitation
1278	COL1A2	HP:0000325	Triangular face
1278	COL1A2	HP:0001623	Breech presentation
1278	COL1A2	HP:0001622	Premature birth
1278	COL1A2	HP:0001635	Congestive heart failure
1278	COL1A2	HP:0001631	Atrial septal defect
1278	COL1A2	HP:0001634	Mitral valve prolapse
1278	COL1A2	HP:0031610	Recurrent shoulder dislocation
1278	COL1A2	HP:0001712	Left ventricular hypertrophy
1278	COL1A2	HP:0005280	Depressed nasal bridge
1278	COL1A2	HP:0000486	Strabismus
1278	COL1A2	HP:0001790	Nonimmune hydrops fetalis
1278	COL1A2	HP:0001763	Pes planus
1278	COL1A2	HP:0000444	Convex nasal ridge
1278	COL1A2	HP:0000414	Bulbous nose
1278	COL1A2	HP:0001762	Talipes equinovarus
1278	COL1A2	HP:0005474	Decreased calvarial ossification
1278	COL1A2	HP:0001848	Calcaneovalgus deformity
1278	COL1A2	HP:0001852	Sandal gap
1278	COL1A2	HP:0001822	Hallux valgus
1278	COL1A2	HP:0000508	Ptosis
1278	COL1A2	HP:0000592	Blue sclerae
1278	COL1A2	HP:0000574	Thick eyebrow
1278	COL1A2	HP:0000545	Myopia
1280	COL2A1	HP:0001169	Broad palm
1280	COL2A1	HP:0001156	Brachydactyly
1280	COL2A1	HP:0001166	Arachnodactyly
1280	COL2A1	HP:0003796	Irregular iliac crest
1280	COL2A1	HP:0001132	Lens subluxation
1280	COL2A1	HP:0007311	Short stepped shuffling gait
1280	COL2A1	HP:0001191	Abnormal carpal morphology
1280	COL2A1	HP:0010885	Avascular necrosis
1280	COL2A1	HP:0010891	Morbus Scheuermann
1280	COL2A1	HP:0008577	Underfolded helix
1280	COL2A1	HP:0009896	Abnormal antitragus morphology
1280	COL2A1	HP:0009882	Short distal phalanx of finger
1280	COL2A1	HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level
1280	COL2A1	HP:0001290	Generalized hypotonia
1280	COL2A1	HP:0025258	Stiff neck
1280	COL2A1	HP:0001270	Motor delay
1280	COL2A1	HP:0001288	Gait disturbance
1280	COL2A1	HP:0001252	Hypotonia
1280	COL2A1	HP:0001249	Intellectual disability
1280	COL2A1	HP:0001248	Short tubular bones of the hand
1280	COL2A1	HP:0003888	Flattened humeral heads
1280	COL2A1	HP:0006110	Shortening of all middle phalanges of the fingers
1280	COL2A1	HP:0008755	Laryngotracheomalacia
1280	COL2A1	HP:0100864	Short femoral neck
1280	COL2A1	HP:0100866	Short iliac bones
1280	COL2A1	HP:0031058	Impairment of activities of daily living
1280	COL2A1	HP:0031096	Delayed vertebral ossification
1280	COL2A1	HP:0006019	Reduced proximal interphalangeal joint space
1280	COL2A1	HP:0001216	Delayed ossification of carpal bones
1280	COL2A1	HP:0002515	Waddling gait
1280	COL2A1	HP:0002514	Cerebral calcification
1280	COL2A1	HP:0003826	Stillbirth
1280	COL2A1	HP:0008812	Flattened femoral head
1280	COL2A1	HP:0012069	Keratan sulfate excretion in urine
1280	COL2A1	HP:0008800	Limited hip movement
1280	COL2A1	HP:0001377	Limited elbow extension
1280	COL2A1	HP:0001376	Limitation of joint mobility
1280	COL2A1	HP:0001371	Flexion contracture
1280	COL2A1	HP:0001373	Joint dislocation
1280	COL2A1	HP:0001367	Abnormal joint morphology
1280	COL2A1	HP:0001369	Arthritis
1280	COL2A1	HP:0001385	Hip dysplasia
1280	COL2A1	HP:0001387	Joint stiffness
1280	COL2A1	HP:0001382	Joint hypermobility
1280	COL2A1	HP:0001384	Abnormal hip joint morphology
1280	COL2A1	HP:0012019	Lens luxation
1280	COL2A1	HP:0000023	Inguinal hernia
1280	COL2A1	HP:0008873	Disproportionate short-limb short stature
1280	COL2A1	HP:0008857	Neonatal short-trunk short stature
1280	COL2A1	HP:0008839	Hypoplastic pelvis
1280	COL2A1	HP:0008843	Hip osteoarthritis
1280	COL2A1	HP:0008828	Delayed proximal femoral epiphyseal ossification
1280	COL2A1	HP:0008833	Irregular acetabular roof
1280	COL2A1	HP:0008819	Narrow femoral neck
1280	COL2A1	HP:0003908	Corner fracture of metaphysis
1280	COL2A1	HP:0031153	Membranous vitreous appearance
1280	COL2A1	HP:0006172	Flattened, squared-off epiphyses of tubular bones
1280	COL2A1	HP:0031174	Double-layered patella
1280	COL2A1	HP:0006144	Shortening of all proximal phalanges of the fingers
1280	COL2A1	HP:0008788	Delayed pubic bone ossification
1280	COL2A1	HP:0002663	Delayed epiphyseal ossification
1280	COL2A1	HP:0002659	Increased susceptibility to fractures
1280	COL2A1	HP:0002656	Epiphyseal dysplasia
1280	COL2A1	HP:0002657	Spondylometaphyseal dysplasia
1280	COL2A1	HP:0002654	Multiple epiphyseal dysplasia
1280	COL2A1	HP:0002655	Spondyloepiphyseal dysplasia
1280	COL2A1	HP:0002673	Coxa valga
1280	COL2A1	HP:0000006	Autosomal dominant inheritance
1280	COL2A1	HP:0002652	Skeletal dysplasia
1280	COL2A1	HP:0002650	Scoliosis
1280	COL2A1	HP:0002651	Spondyloepimetaphyseal dysplasia
1280	COL2A1	HP:0008921	Neonatal short-limb short stature
1280	COL2A1	HP:0008905	Rhizomelia
1280	COL2A1	HP:0000185	Cleft soft palate
1280	COL2A1	HP:0025474	Erythematous plaque
1280	COL2A1	HP:0000193	Bifid uvula
1280	COL2A1	HP:0000164	Abnormality of the dentition
1280	COL2A1	HP:0000160	Narrow mouth
1280	COL2A1	HP:0000162	Glossoptosis
1280	COL2A1	HP:0001488	Bilateral ptosis
1280	COL2A1	HP:0000176	Submucous cleft hard palate
1280	COL2A1	HP:0000175	Cleft palate
1280	COL2A1	HP:0012106	Rhizomelic leg shortening
1280	COL2A1	HP:0002779	Tracheomalacia
1280	COL2A1	HP:0002795	Abnormal respiratory system physiology
1280	COL2A1	HP:0002761	Generalized joint laxity
1280	COL2A1	HP:0001426	Multifactorial inheritance
1280	COL2A1	HP:0002758	Osteoarthritis
1280	COL2A1	HP:0002751	Kyphoscoliosis
1280	COL2A1	HP:0002750	Delayed skeletal maturation
1280	COL2A1	HP:0002020	Gastroesophageal reflux
1280	COL2A1	HP:0003365	Arthralgia of the hip
1280	COL2A1	HP:0003366	Abnormal femoral neck/head morphology
1280	COL2A1	HP:0002033	Poor suck
1280	COL2A1	HP:0003330	Abnormal bone structure
1280	COL2A1	HP:0002007	Frontal bossing
1280	COL2A1	HP:0003311	Hypoplasia of the odontoid process
1280	COL2A1	HP:0003307	Hyperlordosis
1280	COL2A1	HP:0003306	Spinal rigidity
1280	COL2A1	HP:0003320	C1-C2 subluxation
1280	COL2A1	HP:0004619	Lumbar kyphoscoliosis
1280	COL2A1	HP:0003301	Irregular vertebral endplates
1280	COL2A1	HP:0003302	Spondylolisthesis
1280	COL2A1	HP:0003300	Ovoid vertebral bodies
1280	COL2A1	HP:0004625	Biconvex vertebral bodies
1280	COL2A1	HP:0011800	Midface retrusion
1280	COL2A1	HP:0002089	Pulmonary hypoplasia
1280	COL2A1	HP:0002086	Abnormality of the respiratory system
1280	COL2A1	HP:0002098	Respiratory distress
1280	COL2A1	HP:0002091	Restrictive ventilatory defect
1280	COL2A1	HP:0100559	Lower limb asymmetry
1280	COL2A1	HP:0003375	Narrow greater sciatic notch
1280	COL2A1	HP:0003370	Flat capital femoral epiphysis
1280	COL2A1	HP:0100569	Abnormally ossified vertebrae
1280	COL2A1	HP:0005930	Abnormal epiphysis morphology
1280	COL2A1	HP:0005923	Abnormal hand metaphysis morphology
1280	COL2A1	HP:0004605	Absent vertebral body mineralization
1280	COL2A1	HP:0004603	Hyperconvex vertebral body endplates
1280	COL2A1	HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand
1280	COL2A1	HP:0005916	Abnormal metacarpal morphology
1280	COL2A1	HP:0010454	Acetabular spurs
1280	COL2A1	HP:0008142	Delayed calcaneal ossification
1280	COL2A1	HP:0003468	Abnormal vertebral morphology
1280	COL2A1	HP:0003467	Atlantoaxial instability
1280	COL2A1	HP:0003422	Vertebral segmentation defect
1280	COL2A1	HP:0003419	Low back pain
1280	COL2A1	HP:0003417	Coronal cleft vertebrae
1280	COL2A1	HP:0003418	Back pain
1280	COL2A1	HP:0011911	Abnormal metacarpophalangeal joint morphology
1280	COL2A1	HP:0002194	Delayed gross motor development
1280	COL2A1	HP:0003498	Disproportionate short stature
1280	COL2A1	HP:0002176	Spinal cord compression
1280	COL2A1	HP:0009566	Short distal phalanx of the 2nd finger
1280	COL2A1	HP:0011860	Metaphyseal dappling
1280	COL2A1	HP:0011849	Abnormal bone ossification
1280	COL2A1	HP:0010501	Limitation of knee mobility
1280	COL2A1	HP:0010585	Small epiphyses
1280	COL2A1	HP:0008271	Abnormal cartilage collagen
1280	COL2A1	HP:0010575	Dysplasia of the femoral head
1280	COL2A1	HP:0010574	Abnormality of the epiphysis of the femoral head
1280	COL2A1	HP:0010580	Enlarged epiphyses
1280	COL2A1	HP:0010582	Irregular epiphyses
1280	COL2A1	HP:0003577	Congenital onset
1280	COL2A1	HP:0100712	Abnormal lumbar spine morphology
1280	COL2A1	HP:0100773	Cartilage destruction
1280	COL2A1	HP:0008417	Vertebral hypoplasia
1280	COL2A1	HP:0100777	Exostoses
1280	COL2A1	HP:0100734	Abnormality of vertebral epiphysis morphology
1280	COL2A1	HP:0200083	Severe limb shortening
1280	COL2A1	HP:0010646	Cervical spine instability
1280	COL2A1	HP:0003510	Severe short stature
1280	COL2A1	HP:0003521	Disproportionate short-trunk short stature
1280	COL2A1	HP:0002318	Cervical myelopathy
1280	COL2A1	HP:0004991	Rhizomelic arm shortening
1280	COL2A1	HP:0200003	Splayed epiphyses
1280	COL2A1	HP:0009826	Limb undergrowth
1280	COL2A1	HP:0009815	Aplasia/hypoplasia of the extremities
1280	COL2A1	HP:0001090	Abnormally large globe
1280	COL2A1	HP:0009824	Upper limb undergrowth
1280	COL2A1	HP:0009800	Maternal diabetes
1280	COL2A1	HP:0009803	Short phalanx of finger
1280	COL2A1	HP:0200041	Skin erosion
1280	COL2A1	HP:0008462	Cervical instability
1280	COL2A1	HP:0008452	Wafer-thin platyspondyly
1280	COL2A1	HP:0008440	C1-C2 vertebral abnormality
1280	COL2A1	HP:0009778	Short thumb
1280	COL2A1	HP:0010741	Pedal edema
1280	COL2A1	HP:0010743	Short metatarsal
1280	COL2A1	HP:0009763	Limb pain
1280	COL2A1	HP:0008422	Vertebral wedging
1280	COL2A1	HP:0003621	Juvenile onset
1280	COL2A1	HP:0004279	Short palm
1280	COL2A1	HP:0004227	Short distal phalanx of the 5th finger
1280	COL2A1	HP:0000618	Blindness
1280	COL2A1	HP:0004180	Short distal phalanx of the 3rd finger
1280	COL2A1	HP:0010049	Short metacarpal
1280	COL2A1	HP:0010055	Broad hallux
1280	COL2A1	HP:0000670	Carious teeth
1280	COL2A1	HP:0011304	Broad thumb
1280	COL2A1	HP:0004322	Short stature
1280	COL2A1	HP:0031955	Antalgic gait
1280	COL2A1	HP:0004327	Abnormal vitreous humor morphology
1280	COL2A1	HP:0005622	Broad long bones
1280	COL2A1	HP:0030663	Optically empty vitreous
1280	COL2A1	HP:0005619	Thoracolumbar kyphosis
1280	COL2A1	HP:0030672	Asteroid hyalosis
1280	COL2A1	HP:0003071	Flattened epiphysis
1280	COL2A1	HP:0003051	Enlarged metaphyses
1280	COL2A1	HP:0003037	Enlarged joints
1280	COL2A1	HP:0005692	Joint hyperflexibility
1280	COL2A1	HP:0003040	Arthropathy
1280	COL2A1	HP:0034198	Second trimester onset
1280	COL2A1	HP:0003015	Flared metaphysis
1280	COL2A1	HP:0003016	Metaphyseal widening
1280	COL2A1	HP:0003026	Short long bone
1280	COL2A1	HP:0003025	Metaphyseal irregularity
1280	COL2A1	HP:0003022	Hypoplasia of the ulna
1280	COL2A1	HP:0003021	Metaphyseal cupping
1280	COL2A1	HP:0003019	Abnormality of the wrist
1280	COL2A1	HP:0004349	Reduced bone mineral density
1280	COL2A1	HP:0000767	Pectus excavatum
1280	COL2A1	HP:0000768	Pectus carinatum
1280	COL2A1	HP:0011471	Gastrostomy tube feeding in infancy
1280	COL2A1	HP:0011470	Nasogastric tube feeding in infancy
1280	COL2A1	HP:0012785	Flexion contracture of finger
1280	COL2A1	HP:0011463	Childhood onset
1280	COL2A1	HP:0000774	Narrow chest
1280	COL2A1	HP:0000773	Short ribs
1280	COL2A1	HP:0005787	Lumbar platyspondyly
1280	COL2A1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
1280	COL2A1	HP:0005701	Multiple enchondromatosis
1280	COL2A1	HP:0005716	Lethal skeletal dysplasia
1280	COL2A1	HP:0003196	Short nose
1280	COL2A1	HP:0000925	Abnormality of the vertebral column
1280	COL2A1	HP:0000926	Platyspondyly
1280	COL2A1	HP:0003175	Hypoplastic ischia
1280	COL2A1	HP:0003173	Hypoplastic pubic bone
1280	COL2A1	HP:0003170	Abnormal acetabulum morphology
1280	COL2A1	HP:0003180	Flat acetabular roof
1280	COL2A1	HP:0000907	Anterior rib cupping
1280	COL2A1	HP:0000882	Hypoplastic scapulae
1280	COL2A1	HP:0011530	Retinal hole
1280	COL2A1	HP:0000888	Horizontal ribs
1280	COL2A1	HP:0000889	Abnormal clavicle morphology
1280	COL2A1	HP:0000883	Thin ribs
1280	COL2A1	HP:0003097	Short femur
1280	COL2A1	HP:0003090	Hypoplasia of the capital femoral epiphysis
1280	COL2A1	HP:0009290	Short distal phalanx of the 4th finger
1280	COL2A1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
1280	COL2A1	HP:0004565	Severe platyspondyly
1280	COL2A1	HP:0004557	Anterior vertebral fusion
1280	COL2A1	HP:0004568	Beaking of vertebral bodies
1280	COL2A1	HP:0005868	Metaphyseal enchondromatosis
1280	COL2A1	HP:0003202	Skeletal muscle atrophy
1280	COL2A1	HP:0005863	Type E brachydactyly
1280	COL2A1	HP:0045060	Aplasia/hypoplasia involving bones of the extremities
1280	COL2A1	HP:0003273	Hip contracture
1280	COL2A1	HP:0003270	Abdominal distention
1280	COL2A1	HP:0004586	Biconcave vertebral bodies
1280	COL2A1	HP:0030839	Knee pain
1280	COL2A1	HP:0030838	Hip pain
1280	COL2A1	HP:0004592	Thoracic platyspondyly
1280	COL2A1	HP:0004591	Disc-like vertebral bodies
1280	COL2A1	HP:0100255	Metaphyseal dysplasia
1280	COL2A1	HP:0010306	Short thorax
1280	COL2A1	HP:0000969	Edema
1280	COL2A1	HP:0000939	Osteoporosis
1280	COL2A1	HP:0034372	Internal tibial torsion
1280	COL2A1	HP:0000947	Dumbbell-shaped long bone
1280	COL2A1	HP:0000946	Hypoplastic ilia
1280	COL2A1	HP:0000944	Abnormal metaphysis morphology
1280	COL2A1	HP:0040160	Generalized osteoporosis
1280	COL2A1	HP:0008063	Aplasia/Hypoplasia of the lens
1280	COL2A1	HP:0040194	Increased head circumference
1280	COL2A1	HP:0000280	Coarse facial features
1280	COL2A1	HP:0001591	Bell-shaped thorax
1280	COL2A1	HP:0000256	Macrocephaly
1280	COL2A1	HP:0000272	Malar flattening
1280	COL2A1	HP:0006454	Delayed patellar ossification
1280	COL2A1	HP:0007773	Vitreoretinopathy
1280	COL2A1	HP:0005106	Abnormality of the vertebral endplates
1280	COL2A1	HP:0006406	Club-shaped proximal femur
1280	COL2A1	HP:0002815	Abnormality of the knee
1280	COL2A1	HP:0002812	Coxa vara
1280	COL2A1	HP:0002829	Arthralgia
1280	COL2A1	HP:0002827	Hip dislocation
1280	COL2A1	HP:0030084	Clinodactyly
1280	COL2A1	HP:0005086	Knee osteoarthritis
1280	COL2A1	HP:0002808	Kyphosis
1280	COL2A1	HP:0005054	Metaphyseal spurs
1280	COL2A1	HP:0005068	Absent styloid process of ulna
1280	COL2A1	HP:0006385	Short lower limbs
1280	COL2A1	HP:0006375	Dumbbell-shaped femur
1280	COL2A1	HP:0006361	Irregular femoral epiphysis
1280	COL2A1	HP:0012230	Rhegmatogenous retinal detachment
1280	COL2A1	HP:0012221	Pretibial blistering
1280	COL2A1	HP:0000248	Brachycephaly
1280	COL2A1	HP:0001552	Barrel-shaped chest
1280	COL2A1	HP:0002879	Anisospondyly
1280	COL2A1	HP:0000218	High palate
1280	COL2A1	HP:0001561	Polyhydramnios
1280	COL2A1	HP:0002857	Genu valgum
1280	COL2A1	HP:0000211	Trismus
1280	COL2A1	HP:0001537	Umbilical hernia
1280	COL2A1	HP:0002867	Abnormal ilium morphology
1280	COL2A1	HP:0002868	Narrow iliac wing
1280	COL2A1	HP:0001538	Protuberant abdomen
1280	COL2A1	HP:0002866	Hypoplastic iliac wing
1280	COL2A1	HP:0000201	Pierre-Robin sequence
1280	COL2A1	HP:0001507	Growth abnormality
1280	COL2A1	HP:0030041	Schmorl's node
1280	COL2A1	HP:0001519	Disproportionate tall stature
1280	COL2A1	HP:0001510	Growth delay
1280	COL2A1	HP:0006508	Abnormality of tibial epiphyses
1280	COL2A1	HP:0000385	Small earlobe
1280	COL2A1	HP:0000384	Preauricular skin tag
1280	COL2A1	HP:0031520	Groin pain
1280	COL2A1	HP:0012368	Flat face
1280	COL2A1	HP:0005257	Thoracic hypoplasia
1280	COL2A1	HP:0006543	Cardiorespiratory arrest
1280	COL2A1	HP:0002938	Lumbar hyperlordosis
1280	COL2A1	HP:0002948	Vertebral fusion
1280	COL2A1	HP:0002949	Fused cervical vertebrae
1280	COL2A1	HP:0002945	Intervertebral space narrowing
1280	COL2A1	HP:0002942	Thoracic kyphosis
1280	COL2A1	HP:0002943	Thoracic scoliosis
1280	COL2A1	HP:0005193	Restricted large joint movement
1280	COL2A1	HP:0006499	Abnormal femoral epiphysis morphology
1280	COL2A1	HP:0006487	Bowing of the long bones
1280	COL2A1	HP:0031427	Abnormal circulating osteocalcin level
1280	COL2A1	HP:0000365	Hearing impairment
1280	COL2A1	HP:0000358	Posteriorly rotated ears
1280	COL2A1	HP:0011003	High myopia
1280	COL2A1	HP:0000369	Low-set ears
1280	COL2A1	HP:0000343	Long philtrum
1280	COL2A1	HP:0000339	Pugilistic facies
1280	COL2A1	HP:0002996	Limited elbow movement
1280	COL2A1	HP:0012313	Heberden's node
1280	COL2A1	HP:0000347	Micrognathia
1280	COL2A1	HP:0002982	Tibial bowing
1280	COL2A1	HP:0002983	Micromelia
1280	COL2A1	HP:0000316	Hypertelorism
1280	COL2A1	HP:0000311	Round face
1280	COL2A1	HP:0002991	Abnormality of fibula morphology
1280	COL2A1	HP:0000327	Hypoplasia of the maxilla
1280	COL2A1	HP:0002986	Radial bowing
1280	COL2A1	HP:0000324	Facial asymmetry
1280	COL2A1	HP:0002970	Genu varum
1280	COL2A1	HP:0000308	Microretrognathia
1280	COL2A1	HP:0000307	Pointed chin
1280	COL2A1	HP:0001634	Mitral valve prolapse
1280	COL2A1	HP:0007964	Degenerative vitreoretinopathy
1280	COL2A1	HP:0007906	Ocular hypertension
1280	COL2A1	HP:0030329	Retinal thinning
1280	COL2A1	HP:0004039	Abnormal ulnar metaphysis morphology
1280	COL2A1	HP:0007992	Lattice retinal degeneration
1280	COL2A1	HP:0000407	Sensorineural hearing impairment
1280	COL2A1	HP:0000403	Recurrent otitis media
1280	COL2A1	HP:0000405	Conductive hearing impairment
1280	COL2A1	HP:0000402	Stenosis of the external auditory canal
1280	COL2A1	HP:0005280	Depressed nasal bridge
1280	COL2A1	HP:0000486	Strabismus
1280	COL2A1	HP:0000476	Cystic hygroma
1280	COL2A1	HP:0000478	Abnormality of the eye
1280	COL2A1	HP:0000463	Anteverted nares
1280	COL2A1	HP:0001789	Hydrops fetalis
1280	COL2A1	HP:0000470	Short neck
1280	COL2A1	HP:0001773	Short foot
1280	COL2A1	HP:0001763	Pes planus
1280	COL2A1	HP:0000411	Protruding ear
1280	COL2A1	HP:0001760	Abnormal foot morphology
1280	COL2A1	HP:0001762	Talipes equinovarus
1280	COL2A1	HP:0025708	Early young adult onset
1280	COL2A1	HP:0030290	Unossified sacrum
1280	COL2A1	HP:0030431	Osteochondroma
1280	COL2A1	HP:0005451	Decreased cranial base ossification
1280	COL2A1	HP:0000518	Cataract
1280	COL2A1	HP:0000520	Proptosis
1280	COL2A1	HP:0000505	Visual impairment
1280	COL2A1	HP:0000501	Glaucoma
1280	COL2A1	HP:0001831	Short toe
1280	COL2A1	HP:0001891	Iron deficiency anemia
1280	COL2A1	HP:0011220	Prominent forehead
1280	COL2A1	HP:0000572	Visual loss
1280	COL2A1	HP:0000541	Retinal detachment
1280	COL2A1	HP:0001883	Talipes
1280	COL2A1	HP:0000545	Myopia
1281	COL3A1	HP:0001123	Visual field defect
1281	COL3A1	HP:0009906	Aplasia/Hypoplasia of the earlobes
1281	COL3A1	HP:0100807	Long fingers
1281	COL3A1	HP:0100817	Renovascular hypertension
1281	COL3A1	HP:0001270	Motor delay
1281	COL3A1	HP:0001269	Hemiparesis
1281	COL3A1	HP:0001250	Seizure
1281	COL3A1	HP:0001249	Intellectual disability
1281	COL3A1	HP:0001263	Global developmental delay
1281	COL3A1	HP:0001238	Slender finger
1281	COL3A1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
1281	COL3A1	HP:0007400	Irregular hyperpigmentation
1281	COL3A1	HP:0007392	Excessive wrinkled skin
1281	COL3A1	HP:0002539	Cortical dysplasia
1281	COL3A1	HP:0006094	Finger joint hypermobility
1281	COL3A1	HP:0006099	Metacarpophalangeal joint hyperextensibility
1281	COL3A1	HP:0001374	Congenital hip dislocation
1281	COL3A1	HP:0001373	Joint dislocation
1281	COL3A1	HP:0025336	Delayed ability to sit
1281	COL3A1	HP:0001382	Joint hypermobility
1281	COL3A1	HP:0000047	Hypospadias
1281	COL3A1	HP:0000023	Inguinal hernia
1281	COL3A1	HP:0000015	Bladder diverticulum
1281	COL3A1	HP:0000028	Cryptorchidism
1281	COL3A1	HP:0006201	Hypermobility of distal interphalangeal joints
1281	COL3A1	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT
1281	COL3A1	HP:0025392	Nodular pattern on pulmonary HRCT
1281	COL3A1	HP:0031157	Carotid cavernous fistula
1281	COL3A1	HP:0007495	Prematurely aged appearance
1281	COL3A1	HP:0000007	Autosomal recessive inheritance
1281	COL3A1	HP:0000006	Autosomal dominant inheritance
1281	COL3A1	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels
1281	COL3A1	HP:0002652	Skeletal dysplasia
1281	COL3A1	HP:0002650	Scoliosis
1281	COL3A1	HP:0001321	Cerebellar hypoplasia
1281	COL3A1	HP:0002647	Aortic dissection
1281	COL3A1	HP:0002619	Varicose veins
1281	COL3A1	HP:0002616	Aortic root aneurysm
1281	COL3A1	HP:0002617	Vascular dilatation
1281	COL3A1	HP:0032446	Pulmonary bulla
1281	COL3A1	HP:0032447	Pulmonary bleb
1281	COL3A1	HP:0002621	Atherosclerosis
1281	COL3A1	HP:0000190	Abnormal oral frenulum morphology
1281	COL3A1	HP:0000164	Abnormality of the dentition
1281	COL3A1	HP:0000160	Narrow mouth
1281	COL3A1	HP:0012151	Hemothorax
1281	COL3A1	HP:0000168	Abnormality of the gingiva
1281	COL3A1	HP:0000139	Uterine prolapse
1281	COL3A1	HP:0002797	Osteolysis
1281	COL3A1	HP:0001482	Subcutaneous nodule
1281	COL3A1	HP:0006323	Premature loss of primary teeth
1281	COL3A1	HP:0002705	High, narrow palate
1281	COL3A1	HP:0025420	Diffuse alveolar hemorrhage
1281	COL3A1	HP:0002758	Osteoarthritis
1281	COL3A1	HP:0100545	Arterial stenosis
1281	COL3A1	HP:0100543	Cognitive impairment
1281	COL3A1	HP:0002097	Emphysema
1281	COL3A1	HP:0002093	Respiratory insufficiency
1281	COL3A1	HP:0002076	Migraine
1281	COL3A1	HP:0100585	Telangiectasia of the skin
1281	COL3A1	HP:0100578	Lipoatrophy
1281	COL3A1	HP:0002138	Subarachnoid hemorrhage
1281	COL3A1	HP:0002119	Ventriculomegaly
1281	COL3A1	HP:0002126	Polymicrogyria
1281	COL3A1	HP:0002108	Spontaneous pneumothorax
1281	COL3A1	HP:0002107	Pneumothorax
1281	COL3A1	HP:0002105	Hemoptysis
1281	COL3A1	HP:0002170	Intracranial hemorrhage
1281	COL3A1	HP:0010535	Sleep apnea
1281	COL3A1	HP:0003577	Congenital onset
1281	COL3A1	HP:0002242	Abnormal intestine morphology
1281	COL3A1	HP:0100718	Uterine rupture
1281	COL3A1	HP:0002213	Fine hair
1281	COL3A1	HP:0010719	Abnormality of hair texture
1281	COL3A1	HP:0100784	Peripheral arteriovenous fistula
1281	COL3A1	HP:0100749	Chest pain
1281	COL3A1	HP:0002293	Alopecia of scalp
1281	COL3A1	HP:0007029	Cerebral berry aneurysm
1281	COL3A1	HP:0010648	Dermal translucency
1281	COL3A1	HP:0025019	Arterial rupture
1281	COL3A1	HP:0002365	Hypoplasia of the brainstem
1281	COL3A1	HP:0001030	Fragile skin
1281	COL3A1	HP:0002363	Abnormal brainstem morphology
1281	COL3A1	HP:0002350	Cerebellar cyst
1281	COL3A1	HP:0002321	Vertigo
1281	COL3A1	HP:0001000	Abnormality of skin pigmentation
1281	COL3A1	HP:0002326	Transient ischemic attack
1281	COL3A1	HP:0100645	Cystocele
1281	COL3A1	HP:0001073	Cigarette-paper scars
1281	COL3A1	HP:0001075	Atrophic scars
1281	COL3A1	HP:0200042	Skin ulcer
1281	COL3A1	HP:0200055	Small hand
1281	COL3A1	HP:0009771	Osteolytic defects of the phalanges of the hand
1281	COL3A1	HP:0004970	Ascending tubular aorta aneurysm
1281	COL3A1	HP:0004937	Pulmonary artery aneurysm
1281	COL3A1	HP:0004933	Ascending aortic dissection
1281	COL3A1	HP:0004947	Arteriovenous fistula
1281	COL3A1	HP:0004944	Dilatation of the cerebral artery
1281	COL3A1	HP:0004942	Aortic aneurysm
1281	COL3A1	HP:0000615	Abnormal pupil morphology
1281	COL3A1	HP:0001903	Anemia
1281	COL3A1	HP:0000678	Dental crowding
1281	COL3A1	HP:0000691	Microdontia
1281	COL3A1	HP:0000670	Carious teeth
1281	COL3A1	HP:0004322	Short stature
1281	COL3A1	HP:0005620	Hypermobility of interphalangeal joints
1281	COL3A1	HP:0030680	Abnormality of cardiovascular system morphology
1281	COL3A1	HP:0005692	Joint hyperflexibility
1281	COL3A1	HP:0004372	Reduced consciousness/confusion
1281	COL3A1	HP:0031936	Delayed ability to walk
1281	COL3A1	HP:0012733	Macule
1281	COL3A1	HP:0000767	Pectus excavatum
1281	COL3A1	HP:0000750	Delayed speech and language development
1281	COL3A1	HP:0000704	Periodontitis
1281	COL3A1	HP:0000912	Sprengel anomaly
1281	COL3A1	HP:0000822	Hypertension
1281	COL3A1	HP:0030816	Gingival recession
1281	COL3A1	HP:0000993	Molluscoid pseudotumors
1281	COL3A1	HP:0000995	Melanocytic nevus
1281	COL3A1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
1281	COL3A1	HP:0000978	Bruising susceptibility
1281	COL3A1	HP:0000974	Hyperextensible skin
1281	COL3A1	HP:0000987	Atypical scarring of skin
1281	COL3A1	HP:0000951	Abnormality of the skin
1281	COL3A1	HP:0000963	Thin skin
1281	COL3A1	HP:0008065	Aplasia/Hypoplasia of the skin
1281	COL3A1	HP:0040197	Encephalomalacia
1281	COL3A1	HP:0000286	Epicanthus
1281	COL3A1	HP:0000278	Retrognathia
1281	COL3A1	HP:0001596	Alopecia
1281	COL3A1	HP:0012246	Oculomotor nerve palsy
1281	COL3A1	HP:0000276	Long face
1281	COL3A1	HP:0000271	Abnormality of the face
1281	COL3A1	HP:0001582	Redundant skin
1281	COL3A1	HP:0000212	Gingival overgrowth
1281	COL3A1	HP:0000230	Gingivitis
1281	COL3A1	HP:0000233	Thin vermilion border
1281	COL3A1	HP:0030009	Cervical insufficiency
1281	COL3A1	HP:0001537	Umbilical hernia
1281	COL3A1	HP:0031364	Ecchymosis
1281	COL3A1	HP:0012385	Camptodactyly
1281	COL3A1	HP:0000387	Absent earlobe
1281	COL3A1	HP:0012368	Flat face
1281	COL3A1	HP:0011029	Internal hemorrhage
1281	COL3A1	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility
1281	COL3A1	HP:0005244	Gastrointestinal infarctions
1281	COL3A1	HP:0006535	Recurrent intrapulmonary hemorrhage
1281	COL3A1	HP:0006522	Repeated pneumothoraces
1281	COL3A1	HP:0002900	Hypokalemia
1281	COL3A1	HP:0006480	Premature loss of teeth
1281	COL3A1	HP:0000347	Micrognathia
1281	COL3A1	HP:0000319	Smooth philtrum
1281	COL3A1	HP:0000316	Hypertelorism
1281	COL3A1	HP:0001642	Pulmonic stenosis
1281	COL3A1	HP:0001654	Abnormal heart valve morphology
1281	COL3A1	HP:0000322	Short philtrum
1281	COL3A1	HP:0001622	Premature birth
1281	COL3A1	HP:0001634	Mitral valve prolapse
1281	COL3A1	HP:0012499	Descending aortic dissection
1281	COL3A1	HP:0000499	Abnormal eyelash morphology
1281	COL3A1	HP:0007900	Hypoplastic lacrimal duct
1281	COL3A1	HP:0011147	Typical absence seizure
1281	COL3A1	HP:0005294	Arterial dissection
1281	COL3A1	HP:0000496	Abnormality of eye movement
1281	COL3A1	HP:0000490	Deeply set eye
1281	COL3A1	HP:0001788	Premature rupture of membranes
1281	COL3A1	HP:0001773	Short foot
1281	COL3A1	HP:0000444	Convex nasal ridge
1281	COL3A1	HP:0000446	Narrow nasal bridge
1281	COL3A1	HP:0001776	Bilateral talipes equinovarus
1281	COL3A1	HP:0000418	Narrow nasal ridge
1281	COL3A1	HP:0000411	Protruding ear
1281	COL3A1	HP:0001762	Talipes equinovarus
1281	COL3A1	HP:0000430	Underdeveloped nasal alae
1281	COL3A1	HP:0001842	Foot acroosteolysis
1281	COL3A1	HP:0000520	Proptosis
1281	COL3A1	HP:0000506	Telecanthus
1281	COL3A1	HP:0000508	Ptosis
1281	COL3A1	HP:0000501	Glaucoma
1281	COL3A1	HP:0000582	Upslanted palpebral fissure
1281	COL3A1	HP:0000592	Blue sclerae
1281	COL3A1	HP:0001892	Abnormal bleeding
1281	COL3A1	HP:0000563	Keratoconus
1281	COL3A1	HP:0000540	Hypermetropia
1281	COL3A1	HP:0012518	Abnormal circle of Willis morphology
1282	COL4A1	HP:0001136	Retinal arteriolar tortuosity
1282	COL4A1	HP:0001123	Visual field defect
1282	COL4A1	HP:0002451	Limb dystonia
1282	COL4A1	HP:0009918	Ectopia pupillae
1282	COL4A1	HP:0007227	Macrogyria
1282	COL4A1	HP:0007209	Facial paralysis
1282	COL4A1	HP:0001272	Cerebellar atrophy
1282	COL4A1	HP:0001274	Agenesis of corpus callosum
1282	COL4A1	HP:0001269	Hemiparesis
1282	COL4A1	HP:0001284	Areflexia
1282	COL4A1	HP:0001250	Seizure
1282	COL4A1	HP:0001252	Hypotonia
1282	COL4A1	HP:0001249	Intellectual disability
1282	COL4A1	HP:0001265	Hyporeflexia
1282	COL4A1	HP:0001263	Global developmental delay
1282	COL4A1	HP:0001257	Spasticity
1282	COL4A1	HP:0008736	Hypoplasia of penis
1282	COL4A1	HP:0007359	Focal-onset seizure
1282	COL4A1	HP:0002539	Cortical dysplasia
1282	COL4A1	HP:0002536	Abnormal cortical gyration
1282	COL4A1	HP:0002518	Abnormal periventricular white matter morphology
1282	COL4A1	HP:0003829	Typified by incomplete penetrance
1282	COL4A1	HP:0032325	Lacunar stroke
1282	COL4A1	HP:0000083	Renal insufficiency
1282	COL4A1	HP:0000028	Cryptorchidism
1282	COL4A1	HP:0001331	Absent septum pellucidum
1282	COL4A1	HP:0001332	Dystonia
1282	COL4A1	HP:0001328	Specific learning disability
1282	COL4A1	HP:0001324	Muscle weakness
1282	COL4A1	HP:0001342	Cerebral hemorrhage
1282	COL4A1	HP:0001339	Lissencephaly
1282	COL4A1	HP:0000006	Autosomal dominant inheritance
1282	COL4A1	HP:0001305	Dandy-Walker malformation
1282	COL4A1	HP:0001302	Pachygyria
1282	COL4A1	HP:0001321	Cerebellar hypoplasia
1282	COL4A1	HP:0000193	Bifid uvula
1282	COL4A1	HP:0000176	Submucous cleft hard palate
1282	COL4A1	HP:0000175	Cleft palate
1282	COL4A1	HP:0007676	Hypoplasia of the iris
1282	COL4A1	HP:0007663	Reduced visual acuity
1282	COL4A1	HP:0500087	Peripapillary atrophy
1282	COL4A1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
1282	COL4A1	HP:0000107	Renal cyst
1282	COL4A1	HP:0100543	Cognitive impairment
1282	COL4A1	HP:0003394	Muscle spasm
1282	COL4A1	HP:0002076	Migraine
1282	COL4A1	HP:0002077	Migraine with aura
1282	COL4A1	HP:0002140	Ischemic stroke
1282	COL4A1	HP:0003487	Babinski sign
1282	COL4A1	HP:0002119	Ventriculomegaly
1282	COL4A1	HP:0002132	Porencephalic cyst
1282	COL4A1	HP:0002126	Polymicrogyria
1282	COL4A1	HP:0002172	Postural instability
1282	COL4A1	HP:0010508	Metatarsus valgus
1282	COL4A1	HP:0003596	Middle age onset
1282	COL4A1	HP:0003593	Infantile onset
1282	COL4A1	HP:0002273	Tetraparesis
1282	COL4A1	HP:0002269	Abnormality of neuronal migration
1282	COL4A1	HP:0003577	Congenital onset
1282	COL4A1	HP:0003581	Adult onset
1282	COL4A1	HP:0003560	Muscular dystrophy
1282	COL4A1	HP:0032046	Focal cortical dysplasia
1282	COL4A1	HP:0010636	Schizencephaly
1282	COL4A1	HP:0002352	Leukoencephalopathy
1282	COL4A1	HP:0002334	Abnormal cerebellar vermis morphology
1282	COL4A1	HP:0002301	Hemiplegia
1282	COL4A1	HP:0004944	Dilatation of the cerebral artery
1282	COL4A1	HP:0005562	Multiple renal cysts
1282	COL4A1	HP:0000646	Amblyopia
1282	COL4A1	HP:0000648	Optic atrophy
1282	COL4A1	HP:0000613	Photophobia
1282	COL4A1	HP:0000612	Iris coloboma
1282	COL4A1	HP:0000622	Blurred vision
1282	COL4A1	HP:0000726	Dementia
1282	COL4A1	HP:0011496	Corneal neovascularization
1282	COL4A1	HP:0011463	Childhood onset
1282	COL4A1	HP:0011462	Young adult onset
1282	COL4A1	HP:0000790	Hematuria
1282	COL4A1	HP:0012841	Retinal vascular tortuosity
1282	COL4A1	HP:0011500	Polycoria
1282	COL4A1	HP:0040081	Abnormal circulating creatine kinase concentration
1282	COL4A1	HP:0003236	Elevated circulating creatine kinase concentration
1282	COL4A1	HP:0030880	Raynaud phenomenon
1282	COL4A1	HP:0030890	Hyperintensity of cerebral white matter on MRI
1282	COL4A1	HP:0003202	Skeletal muscle atrophy
1282	COL4A1	HP:0045040	Abnormal lactate dehydrogenase level
1282	COL4A1	HP:0000256	Macrocephaly
1282	COL4A1	HP:0005115	Supraventricular arrhythmia
1282	COL4A1	HP:0007731	Chorioretinal dysplasia
1282	COL4A1	HP:0000238	Hydrocephalus
1282	COL4A1	HP:0000252	Microcephaly
1282	COL4A1	HP:0007894	Hypopigmentation of the fundus
1282	COL4A1	HP:0000358	Posteriorly rotated ears
1282	COL4A1	HP:0000369	Low-set ears
1282	COL4A1	HP:0007957	Corneal opacity
1282	COL4A1	HP:0007973	Retinal dysplasia
1282	COL4A1	HP:0000483	Astigmatism
1282	COL4A1	HP:0000482	Microcornea
1282	COL4A1	HP:0012400	Abnormal circulating aldolase concentration
1282	COL4A1	HP:0000411	Protruding ear
1282	COL4A1	HP:0000518	Cataract
1282	COL4A1	HP:0000519	Developmental cataract
1282	COL4A1	HP:0000528	Anophthalmia
1282	COL4A1	HP:0000501	Glaucoma
1282	COL4A1	HP:0000577	Exotropia
1282	COL4A1	HP:0000587	Abnormal optic nerve morphology
1282	COL4A1	HP:0000556	Retinal dystrophy
1282	COL4A1	HP:0000572	Visual loss
1282	COL4A1	HP:0000573	Retinal hemorrhage
1282	COL4A1	HP:0000568	Microphthalmia
1282	COL4A1	HP:0000541	Retinal detachment
1282	COL4A1	HP:0000540	Hypermetropia
1282	COL4A1	HP:0012520	Dilation of Virchow-Robin spaces
1282	COL4A1	HP:0001878	Hemolytic anemia
1282	COL4A1	HP:0000545	Myopia
1284	COL4A2	HP:0001263	Global developmental delay
1284	COL4A2	HP:0032391	Subcortical heterotopia
1284	COL4A2	HP:0007359	Focal-onset seizure
1284	COL4A2	HP:0003829	Typified by incomplete penetrance
1284	COL4A2	HP:0002510	Spastic tetraplegia
1284	COL4A2	HP:0000006	Autosomal dominant inheritance
1284	COL4A2	HP:0002069	Bilateral tonic-clonic seizure
1284	COL4A2	HP:0002119	Ventriculomegaly
1284	COL4A2	HP:0002132	Porencephalic cyst
1284	COL4A2	HP:0002126	Polymicrogyria
1284	COL4A2	HP:0002170	Intracranial hemorrhage
1284	COL4A2	HP:0010636	Schizencephaly
1284	COL4A2	HP:0002301	Hemiplegia
1284	COL4A2	HP:0001510	Growth delay
1284	COL4A2	HP:0000565	Esotropia
1285	COL4A3	HP:0001134	Anterior polar cataract
1285	COL4A3	HP:0001142	Lenticonus
1285	COL4A3	HP:0003774	Stage 5 chronic kidney disease
1285	COL4A3	HP:0002586	Peritonitis
1285	COL4A3	HP:0000083	Renal insufficiency
1285	COL4A3	HP:0000099	Glomerulonephritis
1285	COL4A3	HP:0000097	Focal segmental glomerulosclerosis
1285	COL4A3	HP:0000093	Proteinuria
1285	COL4A3	HP:0000007	Autosomal recessive inheritance
1285	COL4A3	HP:0000006	Autosomal dominant inheritance
1285	COL4A3	HP:0000121	Nephrocalcinosis
1285	COL4A3	HP:0000123	Nephritis
1285	COL4A3	HP:0000100	Nephrotic syndrome
1285	COL4A3	HP:0002027	Abdominal pain
1285	COL4A3	HP:0100539	Periorbital edema
1285	COL4A3	HP:0002157	Azotemia
1285	COL4A3	HP:0002148	Hypophosphatemia
1285	COL4A3	HP:0004722	Thickened glomerular basement membrane
1285	COL4A3	HP:0011947	Respiratory tract infection
1285	COL4A3	HP:0003676	Progressive
1285	COL4A3	HP:0003680	Nonprogressive
1285	COL4A3	HP:0002315	Headache
1285	COL4A3	HP:0200020	Corneal erosion
1285	COL4A3	HP:0012622	Chronic kidney disease
1285	COL4A3	HP:0001967	Diffuse mesangial sclerosis
1285	COL4A3	HP:0001945	Fever
1285	COL4A3	HP:0003073	Hypoalbuminemia
1285	COL4A3	HP:0000737	Irritability
1285	COL4A3	HP:0000707	Abnormality of the nervous system
1285	COL4A3	HP:0000790	Hematuria
1285	COL4A3	HP:0011501	Anterior lenticonus
1285	COL4A3	HP:0000822	Hypertension
1285	COL4A3	HP:0000969	Edema
1285	COL4A3	HP:0030034	Glomerular basement membrane lamellation
1285	COL4A3	HP:0031504	Foamy urine
1285	COL4A3	HP:0002907	Microscopic hematuria
1285	COL4A3	HP:0000365	Hearing impairment
1285	COL4A3	HP:0000407	Sensorineural hearing impairment
1285	COL4A3	HP:0000518	Cataract
1285	COL4A3	HP:0012577	Thin glomerular basement membrane
1285	COL4A3	HP:0012579	Minimal change glomerulonephritis
1285	COL4A3	HP:0000545	Myopia
1286	COL4A4	HP:0003774	Stage 5 chronic kidney disease
1286	COL4A4	HP:0000083	Renal insufficiency
1286	COL4A4	HP:0000093	Proteinuria
1286	COL4A4	HP:0000007	Autosomal recessive inheritance
1286	COL4A4	HP:0000006	Autosomal dominant inheritance
1286	COL4A4	HP:0000123	Nephritis
1286	COL4A4	HP:0000100	Nephrotic syndrome
1286	COL4A4	HP:0004722	Thickened glomerular basement membrane
1286	COL4A4	HP:0003676	Progressive
1286	COL4A4	HP:0003680	Nonprogressive
1286	COL4A4	HP:0200020	Corneal erosion
1286	COL4A4	HP:0000790	Hematuria
1286	COL4A4	HP:0011501	Anterior lenticonus
1286	COL4A4	HP:0000822	Hypertension
1286	COL4A4	HP:0030034	Glomerular basement membrane lamellation
1286	COL4A4	HP:0000365	Hearing impairment
1286	COL4A4	HP:0000518	Cataract
1286	COL4A4	HP:0012577	Thin glomerular basement membrane
1286	COL4A4	HP:0000545	Myopia
1287	COL4A5	HP:0001142	Lenticonus
1287	COL4A5	HP:0003774	Stage 5 chronic kidney disease
1287	COL4A5	HP:0002571	Achalasia
1287	COL4A5	HP:0410281	Dyspepsia
1287	COL4A5	HP:0000083	Renal insufficiency
1287	COL4A5	HP:0000093	Proteinuria
1287	COL4A5	HP:0000123	Nephritis
1287	COL4A5	HP:0000100	Nephrotic syndrome
1287	COL4A5	HP:0001423	X-linked dominant inheritance
1287	COL4A5	HP:0000112	Nephropathy
1287	COL4A5	HP:0001417	X-linked inheritance
1287	COL4A5	HP:0002020	Gastroesophageal reflux
1287	COL4A5	HP:0002031	Abnormal esophagus morphology
1287	COL4A5	HP:0002015	Dysphagia
1287	COL4A5	HP:0002013	Vomiting
1287	COL4A5	HP:0002094	Dyspnea
1287	COL4A5	HP:0010450	Esophageal stenosis
1287	COL4A5	HP:0040288	Nasogastric tube feeding
1287	COL4A5	HP:0010460	Abnormality of the female genitalia
1287	COL4A5	HP:0004722	Thickened glomerular basement membrane
1287	COL4A5	HP:0002205	Recurrent respiratory infections
1287	COL4A5	HP:0100771	Hypoperistalsis
1287	COL4A5	HP:0100751	Esophageal neoplasm
1287	COL4A5	HP:0100749	Chest pain
1287	COL4A5	HP:0011951	Aspiration pneumonia
1287	COL4A5	HP:0010614	Fibroma
1287	COL4A5	HP:0003676	Progressive
1287	COL4A5	HP:0100650	Vaginal neoplasm
1287	COL4A5	HP:0200020	Corneal erosion
1287	COL4A5	HP:0010784	Uterine neoplasm
1287	COL4A5	HP:0032141	Precordial pain
1287	COL4A5	HP:0012622	Chronic kidney disease
1287	COL4A5	HP:0012735	Cough
1287	COL4A5	HP:0012718	Morphological abnormality of the gastrointestinal tract
1287	COL4A5	HP:0000790	Hematuria
1287	COL4A5	HP:0011501	Anterior lenticonus
1287	COL4A5	HP:0000829	Hypoparathyroidism
1287	COL4A5	HP:0000822	Hypertension
1287	COL4A5	HP:0003262	Smooth muscle antibody positivity
1287	COL4A5	HP:0008064	Ichthyosis
1287	COL4A5	HP:0012252	Abnormal respiratory system morphology
1287	COL4A5	HP:0030034	Glomerular basement membrane lamellation
1287	COL4A5	HP:0001508	Failure to thrive
1287	COL4A5	HP:0006524	Tracheobronchial leiomyomatosis
1287	COL4A5	HP:0002907	Microscopic hematuria
1287	COL4A5	HP:0000407	Sensorineural hearing impairment
1287	COL4A5	HP:0000478	Abnormality of the eye
1287	COL4A5	HP:0000491	Keratitis
1287	COL4A5	HP:0006756	Diffuse leiomyomatosis
1287	COL4A5	HP:0030416	Vulvar neoplasm
1287	COL4A5	HP:0000518	Cataract
1287	COL4A5	HP:0000519	Developmental cataract
1287	COL4A5	HP:0001824	Weight loss
1287	COL4A5	HP:0001873	Thrombocytopenia
1287	COL4A5	HP:0000545	Myopia
1288	COL4A6	HP:0003774	Stage 5 chronic kidney disease
1288	COL4A6	HP:0008619	Bilateral sensorineural hearing impairment
1288	COL4A6	HP:0002571	Achalasia
1288	COL4A6	HP:0410281	Dyspepsia
1288	COL4A6	HP:0000093	Proteinuria
1288	COL4A6	HP:0000112	Nephropathy
1288	COL4A6	HP:0001419	X-linked recessive inheritance
1288	COL4A6	HP:0002020	Gastroesophageal reflux
1288	COL4A6	HP:0002031	Abnormal esophagus morphology
1288	COL4A6	HP:0002015	Dysphagia
1288	COL4A6	HP:0002013	Vomiting
1288	COL4A6	HP:0002094	Dyspnea
1288	COL4A6	HP:0010450	Esophageal stenosis
1288	COL4A6	HP:0040288	Nasogastric tube feeding
1288	COL4A6	HP:0010460	Abnormality of the female genitalia
1288	COL4A6	HP:0003577	Congenital onset
1288	COL4A6	HP:0002205	Recurrent respiratory infections
1288	COL4A6	HP:0100771	Hypoperistalsis
1288	COL4A6	HP:0100751	Esophageal neoplasm
1288	COL4A6	HP:0100749	Chest pain
1288	COL4A6	HP:0011951	Aspiration pneumonia
1288	COL4A6	HP:0010614	Fibroma
1288	COL4A6	HP:0100650	Vaginal neoplasm
1288	COL4A6	HP:0010784	Uterine neoplasm
1288	COL4A6	HP:0032141	Precordial pain
1288	COL4A6	HP:0012622	Chronic kidney disease
1288	COL4A6	HP:0011373	Incomplete partition of the cochlea
1288	COL4A6	HP:0012735	Cough
1288	COL4A6	HP:0012718	Morphological abnormality of the gastrointestinal tract
1288	COL4A6	HP:0000790	Hematuria
1288	COL4A6	HP:0011501	Anterior lenticonus
1288	COL4A6	HP:0003262	Smooth muscle antibody positivity
1288	COL4A6	HP:0012252	Abnormal respiratory system morphology
1288	COL4A6	HP:0001508	Failure to thrive
1288	COL4A6	HP:0006524	Tracheobronchial leiomyomatosis
1288	COL4A6	HP:0000407	Sensorineural hearing impairment
1288	COL4A6	HP:0000478	Abnormality of the eye
1288	COL4A6	HP:0000491	Keratitis
1288	COL4A6	HP:0006756	Diffuse leiomyomatosis
1288	COL4A6	HP:0030416	Vulvar neoplasm
1288	COL4A6	HP:0000518	Cataract
1288	COL4A6	HP:0001824	Weight loss
1288	COL4A6	HP:0000545	Myopia
1289	COL5A1	HP:0001187	Hyperextensibility of the finger joints
1289	COL5A1	HP:0003771	Pulp calcification
1289	COL5A1	HP:0001278	Orthostatic hypotension
1289	COL5A1	HP:0001270	Motor delay
1289	COL5A1	HP:0001252	Hypotonia
1289	COL5A1	HP:0100858	Dilatation of celiac artery
1289	COL5A1	HP:0003835	Shoulder subluxation
1289	COL5A1	HP:0003834	Shoulder dislocation
1289	COL5A1	HP:0001373	Joint dislocation
1289	COL5A1	HP:0001386	Joint swelling
1289	COL5A1	HP:0001382	Joint hypermobility
1289	COL5A1	HP:0000023	Inguinal hernia
1289	COL5A1	HP:0000015	Bladder diverticulum
1289	COL5A1	HP:0007495	Prematurely aged appearance
1289	COL5A1	HP:0001324	Muscle weakness
1289	COL5A1	HP:0000006	Autosomal dominant inheritance
1289	COL5A1	HP:0002650	Scoliosis
1289	COL5A1	HP:0002616	Aortic root aneurysm
1289	COL5A1	HP:0000139	Uterine prolapse
1289	COL5A1	HP:0006316	Irregularly spaced teeth
1289	COL5A1	HP:0008947	Infantile muscular hypotonia
1289	COL5A1	HP:0006243	Phalangeal dislocation
1289	COL5A1	HP:0002783	Recurrent lower respiratory tract infections
1289	COL5A1	HP:0002761	Generalized joint laxity
1289	COL5A1	HP:0002758	Osteoarthritis
1289	COL5A1	HP:0002020	Gastroesophageal reflux
1289	COL5A1	HP:0002018	Nausea
1289	COL5A1	HP:0002036	Hiatus hernia
1289	COL5A1	HP:0002035	Rectal prolapse
1289	COL5A1	HP:0002013	Vomiting
1289	COL5A1	HP:0002010	Narrow maxilla
1289	COL5A1	HP:0003394	Muscle spasm
1289	COL5A1	HP:0002076	Migraine
1289	COL5A1	HP:0010485	Hyperextensibility at elbow
1289	COL5A1	HP:0002105	Hemoptysis
1289	COL5A1	HP:0010500	Hyperextensibility of the knee
1289	COL5A1	HP:0004872	Incisional hernia
1289	COL5A1	HP:0010648	Dermal translucency
1289	COL5A1	HP:0001058	Poor wound healing
1289	COL5A1	HP:0025019	Arterial rupture
1289	COL5A1	HP:0001063	Acrocyanosis
1289	COL5A1	HP:0025014	Subcutaneous spheroids
1289	COL5A1	HP:0001065	Striae distensae
1289	COL5A1	HP:0001030	Fragile skin
1289	COL5A1	HP:0001027	Soft, doughy skin
1289	COL5A1	HP:0002315	Headache
1289	COL5A1	HP:0001073	Cigarette-paper scars
1289	COL5A1	HP:0001075	Atrophic scars
1289	COL5A1	HP:0001083	Ectopia lentis
1289	COL5A1	HP:0032153	Joint subluxation
1289	COL5A1	HP:0010750	Dermatochalasis
1289	COL5A1	HP:0010754	Abnormality of the temporomandibular joint
1289	COL5A1	HP:0010749	Blepharochalasis
1289	COL5A1	HP:0009763	Limb pain
1289	COL5A1	HP:0004938	Tortuous cerebral arteries
1289	COL5A1	HP:0004937	Pulmonary artery aneurysm
1289	COL5A1	HP:0004947	Arteriovenous fistula
1289	COL5A1	HP:0004944	Dilatation of the cerebral artery
1289	COL5A1	HP:0000678	Dental crowding
1289	COL5A1	HP:0004322	Short stature
1289	COL5A1	HP:0003083	Dislocated radial head
1289	COL5A1	HP:0003010	Prolonged bleeding time
1289	COL5A1	HP:0000767	Pectus excavatum
1289	COL5A1	HP:0000993	Molluscoid pseudotumors
1289	COL5A1	HP:0000978	Bruising susceptibility
1289	COL5A1	HP:0000977	Soft skin
1289	COL5A1	HP:0000974	Hyperextensible skin
1289	COL5A1	HP:0000938	Osteopenia
1289	COL5A1	HP:0000286	Epicanthus
1289	COL5A1	HP:0000272	Malar flattening
1289	COL5A1	HP:0000268	Dolichocephaly
1289	COL5A1	HP:0005100	Premature birth following premature rupture of fetal membranes
1289	COL5A1	HP:0002829	Arthralgia
1289	COL5A1	HP:0002827	Hip dislocation
1289	COL5A1	HP:0033981	Vertebral artery tortuosity
1289	COL5A1	HP:0033982	Celiac artery dissection
1289	COL5A1	HP:0000218	High palate
1289	COL5A1	HP:0030009	Cervical insufficiency
1289	COL5A1	HP:0025509	Piezogenic pedal papules
1289	COL5A1	HP:0001537	Umbilical hernia
1289	COL5A1	HP:0031364	Ecchymosis
1289	COL5A1	HP:0012378	Fatigue
1289	COL5A1	HP:0000394	Lop ear
1289	COL5A1	HP:0005222	Bowel diverticulosis
1289	COL5A1	HP:0002999	Patellar dislocation
1289	COL5A1	HP:0000347	Micrognathia
1289	COL5A1	HP:0001653	Mitral regurgitation
1289	COL5A1	HP:0001622	Premature birth
1289	COL5A1	HP:0001634	Mitral valve prolapse
1289	COL5A1	HP:0005302	Carotid artery tortuosity
1289	COL5A1	HP:0031653	Abnormal heart valve physiology
1289	COL5A1	HP:0005313	Arterial fibromuscular dysplasia
1289	COL5A1	HP:0001704	Tricuspid valve prolapse
1289	COL5A1	HP:0005294	Arterial dissection
1289	COL5A1	HP:0000481	Abnormal cornea morphology
1289	COL5A1	HP:0000494	Downslanted palpebral fissures
1289	COL5A1	HP:0000490	Deeply set eye
1289	COL5A1	HP:0000460	Narrow nose
1289	COL5A1	HP:0012450	Chronic constipation
1289	COL5A1	HP:0001788	Premature rupture of membranes
1289	COL5A1	HP:0011108	Recurrent sinusitis
1289	COL5A1	HP:0001763	Pes planus
1289	COL5A1	HP:0001760	Abnormal foot morphology
1289	COL5A1	HP:0001762	Talipes equinovarus
1289	COL5A1	HP:0000592	Blue sclerae
1289	COL5A1	HP:0000545	Myopia
1290	COL5A2	HP:0003771	Pulp calcification
1290	COL5A2	HP:0001278	Orthostatic hypotension
1290	COL5A2	HP:0001270	Motor delay
1290	COL5A2	HP:0001252	Hypotonia
1290	COL5A2	HP:0003834	Shoulder dislocation
1290	COL5A2	HP:0001374	Congenital hip dislocation
1290	COL5A2	HP:0001386	Joint swelling
1290	COL5A2	HP:0001382	Joint hypermobility
1290	COL5A2	HP:0000023	Inguinal hernia
1290	COL5A2	HP:0000015	Bladder diverticulum
1290	COL5A2	HP:0007495	Prematurely aged appearance
1290	COL5A2	HP:0001324	Muscle weakness
1290	COL5A2	HP:0000006	Autosomal dominant inheritance
1290	COL5A2	HP:0002650	Scoliosis
1290	COL5A2	HP:0002616	Aortic root aneurysm
1290	COL5A2	HP:0000139	Uterine prolapse
1290	COL5A2	HP:0006243	Phalangeal dislocation
1290	COL5A2	HP:0002761	Generalized joint laxity
1290	COL5A2	HP:0002758	Osteoarthritis
1290	COL5A2	HP:0002020	Gastroesophageal reflux
1290	COL5A2	HP:0002018	Nausea
1290	COL5A2	HP:0002036	Hiatus hernia
1290	COL5A2	HP:0002035	Rectal prolapse
1290	COL5A2	HP:0002013	Vomiting
1290	COL5A2	HP:0003394	Muscle spasm
1290	COL5A2	HP:0002105	Hemoptysis
1290	COL5A2	HP:0004872	Incisional hernia
1290	COL5A2	HP:0100790	Hernia
1290	COL5A2	HP:0001058	Poor wound healing
1290	COL5A2	HP:0025019	Arterial rupture
1290	COL5A2	HP:0001063	Acrocyanosis
1290	COL5A2	HP:0025014	Subcutaneous spheroids
1290	COL5A2	HP:0001065	Striae distensae
1290	COL5A2	HP:0001030	Fragile skin
1290	COL5A2	HP:0001027	Soft, doughy skin
1290	COL5A2	HP:0002315	Headache
1290	COL5A2	HP:0001073	Cigarette-paper scars
1290	COL5A2	HP:0001075	Atrophic scars
1290	COL5A2	HP:0010750	Dermatochalasis
1290	COL5A2	HP:0010754	Abnormality of the temporomandibular joint
1290	COL5A2	HP:0010749	Blepharochalasis
1290	COL5A2	HP:0009763	Limb pain
1290	COL5A2	HP:0004947	Arteriovenous fistula
1290	COL5A2	HP:0004944	Dilatation of the cerebral artery
1290	COL5A2	HP:0031869	Recurrent joint dislocation
1290	COL5A2	HP:0003083	Dislocated radial head
1290	COL5A2	HP:0003010	Prolonged bleeding time
1290	COL5A2	HP:0000993	Molluscoid pseudotumors
1290	COL5A2	HP:0000978	Bruising susceptibility
1290	COL5A2	HP:0000977	Soft skin
1290	COL5A2	HP:0000974	Hyperextensible skin
1290	COL5A2	HP:0000938	Osteopenia
1290	COL5A2	HP:0000286	Epicanthus
1290	COL5A2	HP:0002829	Arthralgia
1290	COL5A2	HP:0002827	Hip dislocation
1290	COL5A2	HP:0030009	Cervical insufficiency
1290	COL5A2	HP:0025509	Piezogenic pedal papules
1290	COL5A2	HP:0001537	Umbilical hernia
1290	COL5A2	HP:0031364	Ecchymosis
1290	COL5A2	HP:0012378	Fatigue
1290	COL5A2	HP:0002999	Patellar dislocation
1290	COL5A2	HP:0001653	Mitral regurgitation
1290	COL5A2	HP:0001622	Premature birth
1290	COL5A2	HP:0001634	Mitral valve prolapse
1290	COL5A2	HP:0031653	Abnormal heart valve physiology
1290	COL5A2	HP:0001704	Tricuspid valve prolapse
1290	COL5A2	HP:0005294	Arterial dissection
1290	COL5A2	HP:0000481	Abnormal cornea morphology
1290	COL5A2	HP:0012450	Chronic constipation
1290	COL5A2	HP:0001788	Premature rupture of membranes
1290	COL5A2	HP:0011108	Recurrent sinusitis
1290	COL5A2	HP:0001763	Pes planus
1290	COL5A2	HP:0001760	Abnormal foot morphology
1290	COL5A2	HP:0001762	Talipes equinovarus
1291	COL6A1	HP:0001181	Adducted thumb
1291	COL6A1	HP:0002460	Distal muscle weakness
1291	COL6A1	HP:0003731	Quadriceps muscle weakness
1291	COL6A1	HP:0003741	Congenital muscular dystrophy
1291	COL6A1	HP:0003701	Proximal muscle weakness
1291	COL6A1	HP:0003700	Generalized amyotrophy
1291	COL6A1	HP:0003713	Muscle fiber necrosis
1291	COL6A1	HP:0001290	Generalized hypotonia
1291	COL6A1	HP:0001270	Motor delay
1291	COL6A1	HP:0001288	Gait disturbance
1291	COL6A1	HP:0001249	Intellectual disability
1291	COL6A1	HP:0001239	Wrist flexion contracture
1291	COL6A1	HP:0001238	Slender finger
1291	COL6A1	HP:0001220	Interphalangeal joint contracture of finger
1291	COL6A1	HP:0002515	Waddling gait
1291	COL6A1	HP:0003828	Variable expressivity
1291	COL6A1	HP:0003805	Rimmed vacuoles
1291	COL6A1	HP:0003803	Type 1 muscle fiber predominance
1291	COL6A1	HP:0001371	Flexion contracture
1291	COL6A1	HP:0001388	Joint laxity
1291	COL6A1	HP:0001382	Joint hypermobility
1291	COL6A1	HP:0008872	Feeding difficulties in infancy
1291	COL6A1	HP:0007502	Follicular hyperkeratosis
1291	COL6A1	HP:0006149	Increased laxity of fingers
1291	COL6A1	HP:0001324	Muscle weakness
1291	COL6A1	HP:0000007	Autosomal recessive inheritance
1291	COL6A1	HP:0000006	Autosomal dominant inheritance
1291	COL6A1	HP:0002650	Scoliosis
1291	COL6A1	HP:0001319	Neonatal hypotonia
1291	COL6A1	HP:0000174	Abnormal palate morphology
1291	COL6A1	HP:0002783	Recurrent lower respiratory tract infections
1291	COL6A1	HP:0002791	Hypoventilation
1291	COL6A1	HP:0002747	Respiratory insufficiency due to muscle weakness
1291	COL6A1	HP:0003327	Axial muscle weakness
1291	COL6A1	HP:0005988	Congenital muscular torticollis
1291	COL6A1	HP:0003325	Limb-girdle muscle weakness
1291	COL6A1	HP:0003306	Spinal rigidity
1291	COL6A1	HP:0003324	Generalized muscle weakness
1291	COL6A1	HP:0002086	Abnormality of the respiratory system
1291	COL6A1	HP:0002093	Respiratory insufficiency
1291	COL6A1	HP:0003391	Gowers sign
1291	COL6A1	HP:0008180	Mildly elevated creatine kinase
1291	COL6A1	HP:0003458	EMG: myopathic abnormalities
1291	COL6A1	HP:0100490	Camptodactyly of finger
1291	COL6A1	HP:0010511	Long toe
1291	COL6A1	HP:0003593	Infantile onset
1291	COL6A1	HP:0003560	Muscular dystrophy
1291	COL6A1	HP:0003557	Increased variability in muscle fiber diameter
1291	COL6A1	HP:0010628	Facial palsy
1291	COL6A1	HP:0003691	Scapular winging
1291	COL6A1	HP:0002359	Frequent falls
1291	COL6A1	HP:0003676	Progressive
1291	COL6A1	HP:0002355	Difficulty walking
1291	COL6A1	HP:0003677	Slowly progressive
1291	COL6A1	HP:0001073	Cigarette-paper scars
1291	COL6A1	HP:0032152	Keratosis pilaris
1291	COL6A1	HP:0020152	Distal joint laxity
1291	COL6A1	HP:0009073	Progressive proximal muscle weakness
1291	COL6A1	HP:0009058	Increased muscle lipid content
1291	COL6A1	HP:0009027	Foot dorsiflexor weakness
1291	COL6A1	HP:0004303	Abnormal muscle fiber morphology
1291	COL6A1	HP:0010176	Curved toe phalanx
1291	COL6A1	HP:0009113	Diaphragmatic weakness
1291	COL6A1	HP:0003198	Myopathy
1291	COL6A1	HP:0003236	Elevated circulating creatine kinase concentration
1291	COL6A1	HP:0003202	Skeletal muscle atrophy
1291	COL6A1	HP:0000975	Hyperhidrosis
1291	COL6A1	HP:0000962	Hyperkeratosis
1291	COL6A1	HP:0008081	Pes valgus
1291	COL6A1	HP:0100297	Increased endomysial connective tissue
1291	COL6A1	HP:0006460	Increased laxity of ankles
1291	COL6A1	HP:0006466	Ankle flexion contracture
1291	COL6A1	HP:0002827	Hip dislocation
1291	COL6A1	HP:0002828	Multiple joint contractures
1291	COL6A1	HP:0005072	Hyperextensibility at wrists
1291	COL6A1	HP:0002808	Kyphosis
1291	COL6A1	HP:0030095	Reduced muscle collagen VI
1291	COL6A1	HP:0006380	Knee flexion contracture
1291	COL6A1	HP:0002878	Respiratory failure
1291	COL6A1	HP:0000218	High palate
1291	COL6A1	HP:0002877	Nocturnal hypoventilation
1291	COL6A1	HP:0001558	Decreased fetal movement
1291	COL6A1	HP:0001533	Slender build
1291	COL6A1	HP:0001508	Failure to thrive
1291	COL6A1	HP:0002938	Lumbar hyperlordosis
1291	COL6A1	HP:0000347	Micrognathia
1291	COL6A1	HP:0000311	Round face
1291	COL6A1	HP:0002987	Elbow flexion contracture
1291	COL6A1	HP:0001626	Abnormality of the cardiovascular system
1291	COL6A1	HP:0012497	Reduced maximal expiratory pressure
1291	COL6A1	HP:0000473	Torticollis
1291	COL6A1	HP:0000470	Short neck
1291	COL6A1	HP:0000467	Neck muscle weakness
1291	COL6A1	HP:0001771	Achilles tendon contracture
1291	COL6A1	HP:0000411	Protruding ear
1291	COL6A1	HP:0001762	Talipes equinovarus
1291	COL6A1	HP:0000565	Esotropia
1292	COL6A2	HP:0001181	Adducted thumb
1292	COL6A2	HP:0002460	Distal muscle weakness
1292	COL6A2	HP:0003731	Quadriceps muscle weakness
1292	COL6A2	HP:0003741	Congenital muscular dystrophy
1292	COL6A2	HP:0003701	Proximal muscle weakness
1292	COL6A2	HP:0003700	Generalized amyotrophy
1292	COL6A2	HP:0003713	Muscle fiber necrosis
1292	COL6A2	HP:0001290	Generalized hypotonia
1292	COL6A2	HP:0001270	Motor delay
1292	COL6A2	HP:0001288	Gait disturbance
1292	COL6A2	HP:0001249	Intellectual disability
1292	COL6A2	HP:0001239	Wrist flexion contracture
1292	COL6A2	HP:0001238	Slender finger
1292	COL6A2	HP:0001220	Interphalangeal joint contracture of finger
1292	COL6A2	HP:0002515	Waddling gait
1292	COL6A2	HP:0003828	Variable expressivity
1292	COL6A2	HP:0032341	Reduced forced vital capacity
1292	COL6A2	HP:0003805	Rimmed vacuoles
1292	COL6A2	HP:0003803	Type 1 muscle fiber predominance
1292	COL6A2	HP:0001371	Flexion contracture
1292	COL6A2	HP:0001388	Joint laxity
1292	COL6A2	HP:0001382	Joint hypermobility
1292	COL6A2	HP:0008872	Feeding difficulties in infancy
1292	COL6A2	HP:0007502	Follicular hyperkeratosis
1292	COL6A2	HP:0006149	Increased laxity of fingers
1292	COL6A2	HP:0001324	Muscle weakness
1292	COL6A2	HP:0000007	Autosomal recessive inheritance
1292	COL6A2	HP:0000006	Autosomal dominant inheritance
1292	COL6A2	HP:0002650	Scoliosis
1292	COL6A2	HP:0001319	Neonatal hypotonia
1292	COL6A2	HP:0000174	Abnormal palate morphology
1292	COL6A2	HP:0002783	Recurrent lower respiratory tract infections
1292	COL6A2	HP:0002791	Hypoventilation
1292	COL6A2	HP:0002747	Respiratory insufficiency due to muscle weakness
1292	COL6A2	HP:0005997	Neck joint contracture
1292	COL6A2	HP:0003327	Axial muscle weakness
1292	COL6A2	HP:0005988	Congenital muscular torticollis
1292	COL6A2	HP:0003325	Limb-girdle muscle weakness
1292	COL6A2	HP:0003306	Spinal rigidity
1292	COL6A2	HP:0003324	Generalized muscle weakness
1292	COL6A2	HP:0002086	Abnormality of the respiratory system
1292	COL6A2	HP:0002093	Respiratory insufficiency
1292	COL6A2	HP:0003391	Gowers sign
1292	COL6A2	HP:0008180	Mildly elevated creatine kinase
1292	COL6A2	HP:0003458	EMG: myopathic abnormalities
1292	COL6A2	HP:0100490	Camptodactyly of finger
1292	COL6A2	HP:0010511	Long toe
1292	COL6A2	HP:0003593	Infantile onset
1292	COL6A2	HP:0003560	Muscular dystrophy
1292	COL6A2	HP:0003557	Increased variability in muscle fiber diameter
1292	COL6A2	HP:0010628	Facial palsy
1292	COL6A2	HP:0003691	Scapular winging
1292	COL6A2	HP:0002359	Frequent falls
1292	COL6A2	HP:0003676	Progressive
1292	COL6A2	HP:0002355	Difficulty walking
1292	COL6A2	HP:0003677	Slowly progressive
1292	COL6A2	HP:0001073	Cigarette-paper scars
1292	COL6A2	HP:0032152	Keratosis pilaris
1292	COL6A2	HP:0020152	Distal joint laxity
1292	COL6A2	HP:0009073	Progressive proximal muscle weakness
1292	COL6A2	HP:0009058	Increased muscle lipid content
1292	COL6A2	HP:0009027	Foot dorsiflexor weakness
1292	COL6A2	HP:0004322	Short stature
1292	COL6A2	HP:0004303	Abnormal muscle fiber morphology
1292	COL6A2	HP:0010176	Curved toe phalanx
1292	COL6A2	HP:0011463	Childhood onset
1292	COL6A2	HP:0009113	Diaphragmatic weakness
1292	COL6A2	HP:0003198	Myopathy
1292	COL6A2	HP:0003236	Elevated circulating creatine kinase concentration
1292	COL6A2	HP:0003202	Skeletal muscle atrophy
1292	COL6A2	HP:0000975	Hyperhidrosis
1292	COL6A2	HP:0000962	Hyperkeratosis
1292	COL6A2	HP:0008081	Pes valgus
1292	COL6A2	HP:0100297	Increased endomysial connective tissue
1292	COL6A2	HP:0006460	Increased laxity of ankles
1292	COL6A2	HP:0006466	Ankle flexion contracture
1292	COL6A2	HP:0002827	Hip dislocation
1292	COL6A2	HP:0002828	Multiple joint contractures
1292	COL6A2	HP:0005072	Hyperextensibility at wrists
1292	COL6A2	HP:0002808	Kyphosis
1292	COL6A2	HP:0030095	Reduced muscle collagen VI
1292	COL6A2	HP:0006380	Knee flexion contracture
1292	COL6A2	HP:0002878	Respiratory failure
1292	COL6A2	HP:0000218	High palate
1292	COL6A2	HP:0002877	Nocturnal hypoventilation
1292	COL6A2	HP:0001558	Decreased fetal movement
1292	COL6A2	HP:0001533	Slender build
1292	COL6A2	HP:0001508	Failure to thrive
1292	COL6A2	HP:0002938	Lumbar hyperlordosis
1292	COL6A2	HP:0002944	Thoracolumbar scoliosis
1292	COL6A2	HP:0000347	Micrognathia
1292	COL6A2	HP:0000311	Round face
1292	COL6A2	HP:0002987	Elbow flexion contracture
1292	COL6A2	HP:0001626	Abnormality of the cardiovascular system
1292	COL6A2	HP:0012497	Reduced maximal expiratory pressure
1292	COL6A2	HP:0000473	Torticollis
1292	COL6A2	HP:0000470	Short neck
1292	COL6A2	HP:0000467	Neck muscle weakness
1292	COL6A2	HP:0001771	Achilles tendon contracture
1292	COL6A2	HP:0000411	Protruding ear
1292	COL6A2	HP:0001762	Talipes equinovarus
1292	COL6A2	HP:0000565	Esotropia
1293	COL6A3	HP:0001181	Adducted thumb
1293	COL6A3	HP:0002460	Distal muscle weakness
1293	COL6A3	HP:0002451	Limb dystonia
1293	COL6A3	HP:0003731	Quadriceps muscle weakness
1293	COL6A3	HP:0003741	Congenital muscular dystrophy
1293	COL6A3	HP:0003701	Proximal muscle weakness
1293	COL6A3	HP:0003700	Generalized amyotrophy
1293	COL6A3	HP:0003713	Muscle fiber necrosis
1293	COL6A3	HP:0001290	Generalized hypotonia
1293	COL6A3	HP:0001270	Motor delay
1293	COL6A3	HP:0001288	Gait disturbance
1293	COL6A3	HP:0001249	Intellectual disability
1293	COL6A3	HP:0001239	Wrist flexion contracture
1293	COL6A3	HP:0001238	Slender finger
1293	COL6A3	HP:0007351	Upper limb postural tremor
1293	COL6A3	HP:0001220	Interphalangeal joint contracture of finger
1293	COL6A3	HP:0002515	Waddling gait
1293	COL6A3	HP:0002530	Axial dystonia
1293	COL6A3	HP:0003828	Variable expressivity
1293	COL6A3	HP:0003805	Rimmed vacuoles
1293	COL6A3	HP:0003803	Type 1 muscle fiber predominance
1293	COL6A3	HP:0012048	Oromandibular dystonia
1293	COL6A3	HP:0012049	Laryngeal dystonia
1293	COL6A3	HP:0001371	Flexion contracture
1293	COL6A3	HP:0001388	Joint laxity
1293	COL6A3	HP:0001382	Joint hypermobility
1293	COL6A3	HP:0008872	Feeding difficulties in infancy
1293	COL6A3	HP:0007502	Follicular hyperkeratosis
1293	COL6A3	HP:0006149	Increased laxity of fingers
1293	COL6A3	HP:0001324	Muscle weakness
1293	COL6A3	HP:0000007	Autosomal recessive inheritance
1293	COL6A3	HP:0000006	Autosomal dominant inheritance
1293	COL6A3	HP:0002650	Scoliosis
1293	COL6A3	HP:0001319	Neonatal hypotonia
1293	COL6A3	HP:0000174	Abnormal palate morphology
1293	COL6A3	HP:0002783	Recurrent lower respiratory tract infections
1293	COL6A3	HP:0002791	Hypoventilation
1293	COL6A3	HP:0002747	Respiratory insufficiency due to muscle weakness
1293	COL6A3	HP:0003327	Axial muscle weakness
1293	COL6A3	HP:0005988	Congenital muscular torticollis
1293	COL6A3	HP:0003325	Limb-girdle muscle weakness
1293	COL6A3	HP:0003306	Spinal rigidity
1293	COL6A3	HP:0003324	Generalized muscle weakness
1293	COL6A3	HP:0002086	Abnormality of the respiratory system
1293	COL6A3	HP:0002093	Respiratory insufficiency
1293	COL6A3	HP:0003391	Gowers sign
1293	COL6A3	HP:0008180	Mildly elevated creatine kinase
1293	COL6A3	HP:0003458	EMG: myopathic abnormalities
1293	COL6A3	HP:0002174	Postural tremor
1293	COL6A3	HP:0100490	Camptodactyly of finger
1293	COL6A3	HP:0010511	Long toe
1293	COL6A3	HP:0003593	Infantile onset
1293	COL6A3	HP:0003560	Muscular dystrophy
1293	COL6A3	HP:0003557	Increased variability in muscle fiber diameter
1293	COL6A3	HP:0010628	Facial palsy
1293	COL6A3	HP:0003691	Scapular winging
1293	COL6A3	HP:0002359	Frequent falls
1293	COL6A3	HP:0002345	Action tremor
1293	COL6A3	HP:0003676	Progressive
1293	COL6A3	HP:0002355	Difficulty walking
1293	COL6A3	HP:0002356	Writer's cramp
1293	COL6A3	HP:0003677	Slowly progressive
1293	COL6A3	HP:0001073	Cigarette-paper scars
1293	COL6A3	HP:0032152	Keratosis pilaris
1293	COL6A3	HP:0003621	Juvenile onset
1293	COL6A3	HP:0020152	Distal joint laxity
1293	COL6A3	HP:0009073	Progressive proximal muscle weakness
1293	COL6A3	HP:0009058	Increased muscle lipid content
1293	COL6A3	HP:0009027	Foot dorsiflexor weakness
1293	COL6A3	HP:0004303	Abnormal muscle fiber morphology
1293	COL6A3	HP:0004373	Focal dystonia
1293	COL6A3	HP:0010176	Curved toe phalanx
1293	COL6A3	HP:0011462	Young adult onset
1293	COL6A3	HP:0009113	Diaphragmatic weakness
1293	COL6A3	HP:0003198	Myopathy
1293	COL6A3	HP:0003236	Elevated circulating creatine kinase concentration
1293	COL6A3	HP:0003202	Skeletal muscle atrophy
1293	COL6A3	HP:0000975	Hyperhidrosis
1293	COL6A3	HP:0000962	Hyperkeratosis
1293	COL6A3	HP:0008081	Pes valgus
1293	COL6A3	HP:0100297	Increased endomysial connective tissue
1293	COL6A3	HP:0006460	Increased laxity of ankles
1293	COL6A3	HP:0006466	Ankle flexion contracture
1293	COL6A3	HP:0002827	Hip dislocation
1293	COL6A3	HP:0002828	Multiple joint contractures
1293	COL6A3	HP:0005072	Hyperextensibility at wrists
1293	COL6A3	HP:0002808	Kyphosis
1293	COL6A3	HP:0030095	Reduced muscle collagen VI
1293	COL6A3	HP:0006380	Knee flexion contracture
1293	COL6A3	HP:0002878	Respiratory failure
1293	COL6A3	HP:0000218	High palate
1293	COL6A3	HP:0002877	Nocturnal hypoventilation
1293	COL6A3	HP:0001558	Decreased fetal movement
1293	COL6A3	HP:0001533	Slender build
1293	COL6A3	HP:0001508	Failure to thrive
1293	COL6A3	HP:0002938	Lumbar hyperlordosis
1293	COL6A3	HP:0000347	Micrognathia
1293	COL6A3	HP:0000311	Round face
1293	COL6A3	HP:0002987	Elbow flexion contracture
1293	COL6A3	HP:0001626	Abnormality of the cardiovascular system
1293	COL6A3	HP:0012497	Reduced maximal expiratory pressure
1293	COL6A3	HP:0000473	Torticollis
1293	COL6A3	HP:0000470	Short neck
1293	COL6A3	HP:0000467	Neck muscle weakness
1293	COL6A3	HP:0001771	Achilles tendon contracture
1293	COL6A3	HP:0000411	Protruding ear
1293	COL6A3	HP:0001762	Talipes equinovarus
1293	COL6A3	HP:0000565	Esotropia
1294	COL7A1	HP:0003764	Nevus
1294	COL7A1	HP:0001231	Abnormal fingernail morphology
1294	COL7A1	HP:0007446	Palmoplantar blistering
1294	COL7A1	HP:0007400	Irregular hyperpigmentation
1294	COL7A1	HP:0031045	Acral blistering
1294	COL7A1	HP:0007383	Congenital localized absence of skin
1294	COL7A1	HP:0000083	Renal insufficiency
1294	COL7A1	HP:0000099	Glomerulonephritis
1294	COL7A1	HP:0012056	Cutaneous melanoma
1294	COL7A1	HP:0000079	Abnormality of the urinary system
1294	COL7A1	HP:0033803	Sub-lamina densa cleavage
1294	COL7A1	HP:0001371	Flexion contracture
1294	COL7A1	HP:0007473	Crusting erythematous dermatitis
1294	COL7A1	HP:0002671	Basal cell carcinoma
1294	COL7A1	HP:0000007	Autosomal recessive inheritance
1294	COL7A1	HP:0000006	Autosomal dominant inheritance
1294	COL7A1	HP:0025474	Erythematous plaque
1294	COL7A1	HP:0000160	Narrow mouth
1294	COL7A1	HP:0000152	Abnormality of head or neck
1294	COL7A1	HP:0001482	Subcutaneous nodule
1294	COL7A1	HP:0006297	Enamel hypoplasia
1294	COL7A1	HP:0025416	Vaginal stricture
1294	COL7A1	HP:0002020	Gastroesophageal reflux
1294	COL7A1	HP:0002019	Constipation
1294	COL7A1	HP:0002031	Abnormal esophagus morphology
1294	COL7A1	HP:0040303	Decreased serum iron
1294	COL7A1	HP:0002015	Dysphagia
1294	COL7A1	HP:0003341	Lamina lucida cleavage
1294	COL7A1	HP:0002043	Esophageal stricture
1294	COL7A1	HP:0100508	Abnormality of vitamin metabolism
1294	COL7A1	HP:0100512	Low levels of vitamin D
1294	COL7A1	HP:0010450	Esophageal stenosis
1294	COL7A1	HP:0004791	Esophageal ulceration
1294	COL7A1	HP:0011936	Decreased plasma total carnitine
1294	COL7A1	HP:0002164	Nail dysplasia
1294	COL7A1	HP:0010562	Keloids
1294	COL7A1	HP:0003593	Infantile onset
1294	COL7A1	HP:0003577	Congenital onset
1294	COL7A1	HP:0008401	Onychogryposis of toenails
1294	COL7A1	HP:0008404	Nail dystrophy
1294	COL7A1	HP:0009723	Abnormality of the subungual region
1294	COL7A1	HP:0100725	Lichenification
1294	COL7A1	HP:0008366	Foot joint contracture
1294	COL7A1	HP:0200097	Oral mucosal blisters
1294	COL7A1	HP:0011968	Feeding difficulties
1294	COL7A1	HP:0008390	Recurrent loss of toenails and fingernails
1294	COL7A1	HP:0008391	Dystrophic fingernails
1294	COL7A1	HP:0008388	Abnormal toenail morphology
1294	COL7A1	HP:0001056	Milia
1294	COL7A1	HP:0001057	Aplasia cutis congenita
1294	COL7A1	HP:0001030	Fragile skin
1294	COL7A1	HP:0001029	Poikiloderma
1294	COL7A1	HP:0001009	Telangiectasia
1294	COL7A1	HP:0001000	Abnormality of skin pigmentation
1294	COL7A1	HP:0200020	Corneal erosion
1294	COL7A1	HP:0200037	Skin vesicle
1294	COL7A1	HP:0200035	Skin plaque
1294	COL7A1	HP:0200034	Papule
1294	COL7A1	HP:0009811	Abnormality of the elbow
1294	COL7A1	HP:0001075	Atrophic scars
1294	COL7A1	HP:0200041	Skin erosion
1294	COL7A1	HP:0010783	Erythema
1294	COL7A1	HP:0100699	Scarring
1294	COL7A1	HP:0003623	Neonatal onset
1294	COL7A1	HP:0003621	Juvenile onset
1294	COL7A1	HP:0031831	Decreased serum zinc
1294	COL7A1	HP:0012622	Chronic kidney disease
1294	COL7A1	HP:0001965	Abnormal scalp morphology
1294	COL7A1	HP:0001903	Anemia
1294	COL7A1	HP:0001917	Renal amyloidosis
1294	COL7A1	HP:0011355	Localized skin lesion
1294	COL7A1	HP:0011354	Generalized abnormality of skin
1294	COL7A1	HP:0000670	Carious teeth
1294	COL7A1	HP:0004325	Decreased body weight
1294	COL7A1	HP:0004334	Dermal atrophy
1294	COL7A1	HP:0003073	Hypoalbuminemia
1294	COL7A1	HP:0004386	Gastrointestinal inflammation
1294	COL7A1	HP:0004395	Malnutrition
1294	COL7A1	HP:0031903	Abnormal circulating selenium concentration
1294	COL7A1	HP:0003019	Abnormality of the wrist
1294	COL7A1	HP:0000739	Anxiety
1294	COL7A1	HP:0000716	Depression
1294	COL7A1	HP:0011471	Gastrostomy tube feeding in infancy
1294	COL7A1	HP:0000794	IgA deposition in the glomerulus
1294	COL7A1	HP:0000823	Delayed puberty
1294	COL7A1	HP:0010296	Ankyloglossia
1294	COL7A1	HP:0040036	Onychogryposis of fingernail
1294	COL7A1	HP:0003234	Decreased plasma carnitine
1294	COL7A1	HP:0003212	Increased circulating IgE level
1294	COL7A1	HP:0003202	Skeletal muscle atrophy
1294	COL7A1	HP:0045059	Hyperkeratotic papule
1294	COL7A1	HP:0000972	Palmoplantar hyperkeratosis
1294	COL7A1	HP:0000992	Cutaneous photosensitivity
1294	COL7A1	HP:0000987	Atypical scarring of skin
1294	COL7A1	HP:0000989	Pruritus
1294	COL7A1	HP:0000982	Palmoplantar keratoderma
1294	COL7A1	HP:0000963	Thin skin
1294	COL7A1	HP:0000962	Hyperkeratosis
1294	COL7A1	HP:0000939	Osteoporosis
1294	COL7A1	HP:0000938	Osteopenia
1294	COL7A1	HP:0008066	Abnormal blistering of the skin
1294	COL7A1	HP:0001596	Alopecia
1294	COL7A1	HP:0012252	Abnormal respiratory system morphology
1294	COL7A1	HP:0002814	Abnormality of the lower limb
1294	COL7A1	HP:0002815	Abnormality of the knee
1294	COL7A1	HP:0012227	Urethral stricture
1294	COL7A1	HP:0001581	Recurrent skin infections
1294	COL7A1	HP:0012221	Pretibial blistering
1294	COL7A1	HP:0002860	Squamous cell carcinoma
1294	COL7A1	HP:0032676	Chronic cutaneous wound
1294	COL7A1	HP:0001508	Failure to thrive
1294	COL7A1	HP:0002839	Urinary bladder sphincter dysfunction
1294	COL7A1	HP:0001510	Growth delay
1294	COL7A1	HP:0012390	Anal fissure
1294	COL7A1	HP:0005203	Spontaneous esophageal perforation
1294	COL7A1	HP:0031446	Erosion of oral mucosa
1294	COL7A1	HP:0031464	Genital blistering
1294	COL7A1	HP:0002973	Abnormal forearm morphology
1294	COL7A1	HP:0001644	Dilated cardiomyopathy
1294	COL7A1	HP:0004057	Mitten deformity
1294	COL7A1	HP:0000402	Stenosis of the external auditory canal
1294	COL7A1	HP:0000478	Abnormality of the eye
1294	COL7A1	HP:0001792	Small nail
1294	COL7A1	HP:0011121	Abnormality of skin morphology
1294	COL7A1	HP:0001798	Anonychia
1294	COL7A1	HP:0000518	Cataract
1294	COL7A1	HP:0000509	Conjunctivitis
1294	COL7A1	HP:0001808	Fragile nails
1294	COL7A1	HP:0001805	Onychogryposis
1294	COL7A1	HP:0001802	Absent toenail
1294	COL7A1	HP:0001817	Absent fingernail
1294	COL7A1	HP:0001810	Dystrophic toenail
1294	COL7A1	HP:0030350	Erythematous papule
1294	COL7A1	HP:0001891	Iron deficiency anemia
1294	COL7A1	HP:0000559	Corneal scarring
1294	COL7A1	HP:0000572	Visual loss
1294	COL7A1	HP:0012532	Chronic pain
1296	COL8A2	HP:0001131	Corneal dystrophy
1296	COL8A2	HP:0009918	Ectopia pupillae
1296	COL8A2	HP:0025358	Uveal ectropion
1296	COL8A2	HP:0012038	Corneal guttata
1296	COL8A2	HP:0012039	Descemet Membrane Folds
1296	COL8A2	HP:0012040	Corneal stromal edema
1296	COL8A2	HP:0000006	Autosomal dominant inheritance
1296	COL8A2	HP:0007663	Reduced visual acuity
1296	COL8A2	HP:0200026	Ocular pain
1296	COL8A2	HP:0200065	Chorioretinal degeneration
1296	COL8A2	HP:0032122	Very low visual acuity
1296	COL8A2	HP:0100692	Increased corneal curvature
1296	COL8A2	HP:0000632	Lacrimation abnormality
1296	COL8A2	HP:0000646	Amblyopia
1296	COL8A2	HP:0000613	Photophobia
1296	COL8A2	HP:0000622	Blurred vision
1296	COL8A2	HP:0000662	Nyctalopia
1296	COL8A2	HP:0011488	Abnormal corneal endothelium morphology
1296	COL8A2	HP:0011491	Reduced number of corneal endothelial cells
1296	COL8A2	HP:0011490	Abnormal Descemet membrane morphology
1296	COL8A2	HP:0011483	Anterior synechiae of the anterior chamber
1296	COL8A2	HP:0030857	Eye movement-induced pain
1296	COL8A2	HP:0000969	Edema
1296	COL8A2	HP:0007705	Corneal degeneration
1296	COL8A2	HP:0007957	Corneal opacity
1296	COL8A2	HP:0007906	Ocular hypertension
1296	COL8A2	HP:0000483	Astigmatism
1296	COL8A2	HP:0000501	Glaucoma
1296	COL8A2	HP:0000572	Visual loss
1296	COL8A2	HP:0000565	Esotropia
1297	COL9A1	HP:0006055	Ulnar deviated club hands
1297	COL9A1	HP:0002515	Waddling gait
1297	COL9A1	HP:0006190	Radially deviated wrists
1297	COL9A1	HP:0002656	Epiphyseal dysplasia
1297	COL9A1	HP:0001324	Muscle weakness
1297	COL9A1	HP:0002654	Multiple epiphyseal dysplasia
1297	COL9A1	HP:0000007	Autosomal recessive inheritance
1297	COL9A1	HP:0003999	Abnormality of radial epiphyses
1297	COL9A1	HP:0000006	Autosomal dominant inheritance
1297	COL9A1	HP:0003946	Abnormality of the epiphyses of the elbow
1297	COL9A1	HP:0000175	Cleft palate
1297	COL9A1	HP:0002758	Osteoarthritis
1297	COL9A1	HP:0030973	Postexertional symptom exacerbation
1297	COL9A1	HP:0003365	Arthralgia of the hip
1297	COL9A1	HP:0003301	Irregular vertebral endplates
1297	COL9A1	HP:0003370	Flat capital femoral epiphysis
1297	COL9A1	HP:0005930	Abnormal epiphysis morphology
1297	COL9A1	HP:0010585	Small epiphyses
1297	COL9A1	HP:0010582	Irregular epiphyses
1297	COL9A1	HP:0010665	Bilateral coxa valga
1297	COL9A1	HP:0010631	Abnormality of the epiphyses of the feet
1297	COL9A1	HP:0009826	Limb undergrowth
1297	COL9A1	HP:0003621	Juvenile onset
1297	COL9A1	HP:0000646	Amblyopia
1297	COL9A1	HP:0004322	Short stature
1297	COL9A1	HP:0005645	Intervertebral disk calcification
1297	COL9A1	HP:0005692	Joint hyperflexibility
1297	COL9A1	HP:0003028	Abnormality of the ankle
1297	COL9A1	HP:0003045	Abnormal patella morphology
1297	COL9A1	HP:0009189	Fragmentation of the metacarpal epiphyses
1297	COL9A1	HP:0012770	Reduced arm span
1297	COL9A1	HP:0003198	Myopathy
1297	COL9A1	HP:0000926	Platyspondyly
1297	COL9A1	HP:0030839	Knee pain
1297	COL9A1	HP:0000272	Malar flattening
1297	COL9A1	HP:0007773	Vitreoretinopathy
1297	COL9A1	HP:0006407	Irregular distal femoral epiphysis
1297	COL9A1	HP:0002815	Abnormality of the knee
1297	COL9A1	HP:0002812	Coxa vara
1297	COL9A1	HP:0002829	Arthralgia
1297	COL9A1	HP:0006398	Flat distal femoral epiphysis
1297	COL9A1	HP:0005041	Irregular capital femoral epiphysis
1297	COL9A1	HP:0002857	Genu valgum
1297	COL9A1	HP:0030041	Schmorl's node
1297	COL9A1	HP:0012368	Flat face
1297	COL9A1	HP:0011003	High myopia
1297	COL9A1	HP:0000347	Micrognathia
1297	COL9A1	HP:0002970	Genu varum
1297	COL9A1	HP:0007964	Degenerative vitreoretinopathy
1297	COL9A1	HP:0000407	Sensorineural hearing impairment
1297	COL9A1	HP:0000483	Astigmatism
1297	COL9A1	HP:0000518	Cataract
1297	COL9A1	HP:0000541	Retinal detachment
1297	COL9A1	HP:0000545	Myopia
1298	COL9A2	HP:0010886	Osteochondritis dissecans
1298	COL9A2	HP:0025238	Foot pain
1298	COL9A2	HP:0006055	Ulnar deviated club hands
1298	COL9A2	HP:0002515	Waddling gait
1298	COL9A2	HP:0001385	Hip dysplasia
1298	COL9A2	HP:0006190	Radially deviated wrists
1298	COL9A2	HP:0002656	Epiphyseal dysplasia
1298	COL9A2	HP:0001324	Muscle weakness
1298	COL9A2	HP:0000007	Autosomal recessive inheritance
1298	COL9A2	HP:0003999	Abnormality of radial epiphyses
1298	COL9A2	HP:0000006	Autosomal dominant inheritance
1298	COL9A2	HP:0003946	Abnormality of the epiphyses of the elbow
1298	COL9A2	HP:0000175	Cleft palate
1298	COL9A2	HP:0002758	Osteoarthritis
1298	COL9A2	HP:0030973	Postexertional symptom exacerbation
1298	COL9A2	HP:0003365	Arthralgia of the hip
1298	COL9A2	HP:0002007	Frontal bossing
1298	COL9A2	HP:0003301	Irregular vertebral endplates
1298	COL9A2	HP:0011800	Midface retrusion
1298	COL9A2	HP:0005930	Abnormal epiphysis morphology
1298	COL9A2	HP:0002136	Broad-based gait
1298	COL9A2	HP:0010585	Small epiphyses
1298	COL9A2	HP:0010582	Irregular epiphyses
1298	COL9A2	HP:0010665	Bilateral coxa valga
1298	COL9A2	HP:0010631	Abnormality of the epiphyses of the feet
1298	COL9A2	HP:0003502	Mild short stature
1298	COL9A2	HP:0009826	Limb undergrowth
1298	COL9A2	HP:0009804	Tooth agenesis
1298	COL9A2	HP:0100694	Tibial torsion
1298	COL9A2	HP:0004279	Short palm
1298	COL9A2	HP:0000646	Amblyopia
1298	COL9A2	HP:0004322	Short stature
1298	COL9A2	HP:0003071	Flattened epiphysis
1298	COL9A2	HP:0005692	Joint hyperflexibility
1298	COL9A2	HP:0003028	Abnormality of the ankle
1298	COL9A2	HP:0003045	Abnormal patella morphology
1298	COL9A2	HP:0009189	Fragmentation of the metacarpal epiphyses
1298	COL9A2	HP:0011463	Childhood onset
1298	COL9A2	HP:0012770	Reduced arm span
1298	COL9A2	HP:0005715	Flattened knee epiphyses
1298	COL9A2	HP:0003198	Myopathy
1298	COL9A2	HP:0000926	Platyspondyly
1298	COL9A2	HP:0030839	Knee pain
1298	COL9A2	HP:0000272	Malar flattening
1298	COL9A2	HP:0007773	Vitreoretinopathy
1298	COL9A2	HP:0002815	Abnormality of the knee
1298	COL9A2	HP:0002812	Coxa vara
1298	COL9A2	HP:0005086	Knee osteoarthritis
1298	COL9A2	HP:0002857	Genu valgum
1298	COL9A2	HP:0000201	Pierre-Robin sequence
1298	COL9A2	HP:0012378	Fatigue
1298	COL9A2	HP:0012368	Flat face
1298	COL9A2	HP:0011003	High myopia
1298	COL9A2	HP:0000347	Micrognathia
1298	COL9A2	HP:0000331	Short chin
1298	COL9A2	HP:0002970	Genu varum
1298	COL9A2	HP:0000407	Sensorineural hearing impairment
1298	COL9A2	HP:0000483	Astigmatism
1298	COL9A2	HP:0000518	Cataract
1298	COL9A2	HP:0000541	Retinal detachment
1298	COL9A2	HP:0000545	Myopia
1299	COL9A3	HP:0003701	Proximal muscle weakness
1299	COL9A3	HP:0001249	Intellectual disability
1299	COL9A3	HP:0006055	Ulnar deviated club hands
1299	COL9A3	HP:0002515	Waddling gait
1299	COL9A3	HP:0001377	Limited elbow extension
1299	COL9A3	HP:0001384	Abnormal hip joint morphology
1299	COL9A3	HP:0006190	Radially deviated wrists
1299	COL9A3	HP:0002663	Delayed epiphyseal ossification
1299	COL9A3	HP:0002656	Epiphyseal dysplasia
1299	COL9A3	HP:0001324	Muscle weakness
1299	COL9A3	HP:0000007	Autosomal recessive inheritance
1299	COL9A3	HP:0003999	Abnormality of radial epiphyses
1299	COL9A3	HP:0000006	Autosomal dominant inheritance
1299	COL9A3	HP:0003946	Abnormality of the epiphyses of the elbow
1299	COL9A3	HP:0000175	Cleft palate
1299	COL9A3	HP:0002758	Osteoarthritis
1299	COL9A3	HP:0030973	Postexertional symptom exacerbation
1299	COL9A3	HP:0003365	Arthralgia of the hip
1299	COL9A3	HP:0003301	Irregular vertebral endplates
1299	COL9A3	HP:0011800	Midface retrusion
1299	COL9A3	HP:0005930	Abnormal epiphysis morphology
1299	COL9A3	HP:0008180	Mildly elevated creatine kinase
1299	COL9A3	HP:0010585	Small epiphyses
1299	COL9A3	HP:0010582	Irregular epiphyses
1299	COL9A3	HP:0010665	Bilateral coxa valga
1299	COL9A3	HP:0010631	Abnormality of the epiphyses of the feet
1299	COL9A3	HP:0003502	Mild short stature
1299	COL9A3	HP:0009826	Limb undergrowth
1299	COL9A3	HP:0000646	Amblyopia
1299	COL9A3	HP:0010049	Short metacarpal
1299	COL9A3	HP:0004322	Short stature
1299	COL9A3	HP:0003066	Limited knee extension
1299	COL9A3	HP:0005692	Joint hyperflexibility
1299	COL9A3	HP:0003028	Abnormality of the ankle
1299	COL9A3	HP:0003045	Abnormal patella morphology
1299	COL9A3	HP:0009189	Fragmentation of the metacarpal epiphyses
1299	COL9A3	HP:0012770	Reduced arm span
1299	COL9A3	HP:0003198	Myopathy
1299	COL9A3	HP:0000926	Platyspondyly
1299	COL9A3	HP:0003236	Elevated circulating creatine kinase concentration
1299	COL9A3	HP:0030839	Knee pain
1299	COL9A3	HP:0034372	Internal tibial torsion
1299	COL9A3	HP:0008081	Pes valgus
1299	COL9A3	HP:0000272	Malar flattening
1299	COL9A3	HP:0007773	Vitreoretinopathy
1299	COL9A3	HP:0002815	Abnormality of the knee
1299	COL9A3	HP:0002812	Coxa vara
1299	COL9A3	HP:0002857	Genu valgum
1299	COL9A3	HP:0012368	Flat face
1299	COL9A3	HP:0011003	High myopia
1299	COL9A3	HP:0000347	Micrognathia
1299	COL9A3	HP:0002970	Genu varum
1299	COL9A3	HP:0031624	Moderate myopia
1299	COL9A3	HP:0000407	Sensorineural hearing impairment
1299	COL9A3	HP:0005280	Depressed nasal bridge
1299	COL9A3	HP:0000483	Astigmatism
1299	COL9A3	HP:0000494	Downslanted palpebral fissures
1299	COL9A3	HP:0001763	Pes planus
1299	COL9A3	HP:0000518	Cataract
1299	COL9A3	HP:0000508	Ptosis
1299	COL9A3	HP:0000541	Retinal detachment
1299	COL9A3	HP:0000545	Myopia
1300	COL10A1	HP:0009882	Short distal phalanx of finger
1300	COL10A1	HP:0001248	Short tubular bones of the hand
1300	COL10A1	HP:0006028	Metaphyseal cupping of metacarpals
1300	COL10A1	HP:0002515	Waddling gait
1300	COL10A1	HP:0025369	Thick growth plates
1300	COL10A1	HP:0001385	Hip dysplasia
1300	COL10A1	HP:0006208	Metaphyseal cupping of proximal phalanges
1300	COL10A1	HP:0008873	Disproportionate short-limb short stature
1300	COL10A1	HP:0008833	Irregular acetabular roof
1300	COL10A1	HP:0000006	Autosomal dominant inheritance
1300	COL10A1	HP:0002650	Scoliosis
1300	COL10A1	HP:0005028	Widened proximal tibial metaphyses
1300	COL10A1	HP:0003301	Irregular vertebral endplates
1300	COL10A1	HP:0003371	Enlargement of the proximal femoral epiphysis
1300	COL10A1	HP:0005923	Abnormal hand metaphysis morphology
1300	COL10A1	HP:0003468	Abnormal vertebral morphology
1300	COL10A1	HP:0003411	Proximal femoral metaphyseal irregularity
1300	COL10A1	HP:0003508	Proportionate short stature
1300	COL10A1	HP:0003502	Mild short stature
1300	COL10A1	HP:0004979	Metaphyseal sclerosis
1300	COL10A1	HP:0009852	Broad proximal phalanges of the hand
1300	COL10A1	HP:0009844	Broad middle phalanx of finger
1300	COL10A1	HP:0009826	Limb undergrowth
1300	COL10A1	HP:0004322	Short stature
1300	COL10A1	HP:0003015	Flared metaphysis
1300	COL10A1	HP:0003016	Metaphyseal widening
1300	COL10A1	HP:0003026	Short long bone
1300	COL10A1	HP:0003025	Metaphyseal irregularity
1300	COL10A1	HP:0003021	Metaphyseal cupping
1300	COL10A1	HP:0011463	Childhood onset
1300	COL10A1	HP:0000926	Platyspondyly
1300	COL10A1	HP:0000907	Anterior rib cupping
1300	COL10A1	HP:0005871	Metaphyseal chondrodysplasia
1300	COL10A1	HP:0045079	Distal femoral metaphyseal irregularity
1300	COL10A1	HP:0005819	Short middle phalanx of finger
1300	COL10A1	HP:0006429	Broad femoral neck
1300	COL10A1	HP:0006431	Proximal femoral metaphyseal abnormality
1300	COL10A1	HP:0006414	Distal tibial bowing
1300	COL10A1	HP:0002812	Coxa vara
1300	COL10A1	HP:0002829	Arthralgia
1300	COL10A1	HP:0002857	Genu valgum
1300	COL10A1	HP:0001513	Obesity
1300	COL10A1	HP:0002938	Lumbar hyperlordosis
1300	COL10A1	HP:0002980	Femoral bowing
1300	COL10A1	HP:0002979	Bowing of the legs
1300	COL10A1	HP:0002970	Genu varum
1300	COL10A1	HP:0006634	Osteosclerosis of ribs
1300	COL10A1	HP:0004042	Ulnar metaphyseal irregularity
1300	COL10A1	HP:0004019	Radial metaphyseal irregularity
1300	COL10A1	HP:0030299	Distal femoral metaphyseal abnormality
1301	COL11A1	HP:0001156	Brachydactyly
1301	COL11A1	HP:0001166	Arachnodactyly
1301	COL11A1	HP:0100807	Long fingers
1301	COL11A1	HP:0100865	Broad ischia
1301	COL11A1	HP:0002514	Cerebral calcification
1301	COL11A1	HP:0003826	Stillbirth
1301	COL11A1	HP:0006095	Wide tufts of distal phalanges
1301	COL11A1	HP:0001382	Joint hypermobility
1301	COL11A1	HP:0012019	Lens luxation
1301	COL11A1	HP:0002684	Thickened calvaria
1301	COL11A1	HP:0001357	Plagiocephaly
1301	COL11A1	HP:0002688	Absent frontal sinuses
1301	COL11A1	HP:0002656	Epiphyseal dysplasia
1301	COL11A1	HP:0002655	Spondyloepiphyseal dysplasia
1301	COL11A1	HP:0002673	Coxa valga
1301	COL11A1	HP:0000007	Autosomal recessive inheritance
1301	COL11A1	HP:0000006	Autosomal dominant inheritance
1301	COL11A1	HP:0008905	Rhizomelia
1301	COL11A1	HP:0000179	Thick lower lip vermilion
1301	COL11A1	HP:0000193	Bifid uvula
1301	COL11A1	HP:0000164	Abnormality of the dentition
1301	COL11A1	HP:0000160	Narrow mouth
1301	COL11A1	HP:0000162	Glossoptosis
1301	COL11A1	HP:0000175	Cleft palate
1301	COL11A1	HP:0002705	High, narrow palate
1301	COL11A1	HP:0002781	Upper airway obstruction
1301	COL11A1	HP:0002758	Osteoarthritis
1301	COL11A1	HP:0002738	Hypoplastic frontal sinuses
1301	COL11A1	HP:0002007	Frontal bossing
1301	COL11A1	HP:0003312	Abnormal form of the vertebral bodies
1301	COL11A1	HP:0003301	Irregular vertebral endplates
1301	COL11A1	HP:0011800	Midface retrusion
1301	COL11A1	HP:0002093	Respiratory insufficiency
1301	COL11A1	HP:0003375	Narrow greater sciatic notch
1301	COL11A1	HP:0005930	Abnormal epiphysis morphology
1301	COL11A1	HP:0009473	Joint contracture of the hand
1301	COL11A1	HP:0100490	Camptodactyly of finger
1301	COL11A1	HP:0003577	Congenital onset
1301	COL11A1	HP:0010669	Hypoplasia of the zygomatic bone
1301	COL11A1	HP:0001083	Ectopia lentis
1301	COL11A1	HP:0200055	Small hand
1301	COL11A1	HP:0008451	Posterior vertebral hypoplasia
1301	COL11A1	HP:0004209	Clinodactyly of the 5th finger
1301	COL11A1	HP:0004279	Short palm
1301	COL11A1	HP:0000639	Nystagmus
1301	COL11A1	HP:0000646	Amblyopia
1301	COL11A1	HP:0000675	Macrodontia of permanent maxillary central incisor
1301	COL11A1	HP:0000653	Sparse eyelashes
1301	COL11A1	HP:0004322	Short stature
1301	COL11A1	HP:0004327	Abnormal vitreous humor morphology
1301	COL11A1	HP:0005622	Broad long bones
1301	COL11A1	HP:0003038	Fibular hypoplasia
1301	COL11A1	HP:0003031	Ulnar bowing
1301	COL11A1	HP:0005692	Joint hyperflexibility
1301	COL11A1	HP:0003040	Arthropathy
1301	COL11A1	HP:0003016	Metaphyseal widening
1301	COL11A1	HP:0003026	Short long bone
1301	COL11A1	HP:0000772	Abnormal rib morphology
1301	COL11A1	HP:0000774	Narrow chest
1301	COL11A1	HP:0000773	Short ribs
1301	COL11A1	HP:0003196	Short nose
1301	COL11A1	HP:0000926	Platyspondyly
1301	COL11A1	HP:0000922	Posterior rib cupping
1301	COL11A1	HP:0003175	Hypoplastic ischia
1301	COL11A1	HP:0000907	Anterior rib cupping
1301	COL11A1	HP:0000882	Hypoplastic scapulae
1301	COL11A1	HP:0000890	Long clavicles
1301	COL11A1	HP:0000883	Thin ribs
1301	COL11A1	HP:0000885	Broad ribs
1301	COL11A1	HP:0003097	Short femur
1301	COL11A1	HP:0040025	Clinodactyly of the 4th finger
1301	COL11A1	HP:0045075	Sparse eyebrow
1301	COL11A1	HP:0100250	Meningeal calcification
1301	COL11A1	HP:0000966	Hypohidrosis
1301	COL11A1	HP:0000947	Dumbbell-shaped long bone
1301	COL11A1	HP:0000946	Hypoplastic ilia
1301	COL11A1	HP:0000944	Abnormal metaphysis morphology
1301	COL11A1	HP:0000940	Abnormal diaphysis morphology
1301	COL11A1	HP:0008070	Sparse hair
1301	COL11A1	HP:0012283	Small distal femoral epiphysis
1301	COL11A1	HP:0012284	Small proximal tibial epiphyses
1301	COL11A1	HP:0000286	Epicanthus
1301	COL11A1	HP:0001591	Bell-shaped thorax
1301	COL11A1	HP:0000260	Wide anterior fontanel
1301	COL11A1	HP:0000272	Malar flattening
1301	COL11A1	HP:0006456	Irregular proximal tibial epiphyses
1301	COL11A1	HP:0007773	Vitreoretinopathy
1301	COL11A1	HP:0006407	Irregular distal femoral epiphysis
1301	COL11A1	HP:0002829	Arthralgia
1301	COL11A1	HP:0005086	Knee osteoarthritis
1301	COL11A1	HP:0006361	Irregular femoral epiphysis
1301	COL11A1	HP:0000248	Brachycephaly
1301	COL11A1	HP:0000218	High palate
1301	COL11A1	HP:0000215	Thick upper lip vermilion
1301	COL11A1	HP:0002857	Genu valgum
1301	COL11A1	HP:0001539	Omphalocele
1301	COL11A1	HP:0001538	Protuberant abdomen
1301	COL11A1	HP:0000201	Pierre-Robin sequence
1301	COL11A1	HP:0012385	Camptodactyly
1301	COL11A1	HP:0012368	Flat face
1301	COL11A1	HP:0000377	Abnormal pinna morphology
1301	COL11A1	HP:0005257	Thoracic hypoplasia
1301	COL11A1	HP:0000364	Hearing abnormality
1301	COL11A1	HP:0011003	High myopia
1301	COL11A1	HP:0000369	Low-set ears
1301	COL11A1	HP:0000343	Long philtrum
1301	COL11A1	HP:0000347	Micrognathia
1301	COL11A1	HP:0002983	Micromelia
1301	COL11A1	HP:0002980	Femoral bowing
1301	COL11A1	HP:0000316	Hypertelorism
1301	COL11A1	HP:0000311	Round face
1301	COL11A1	HP:0000327	Hypoplasia of the maxilla
1301	COL11A1	HP:0002986	Radial bowing
1301	COL11A1	HP:0001655	Patent foramen ovale
1301	COL11A1	HP:0001622	Premature birth
1301	COL11A1	HP:0007957	Corneal opacity
1301	COL11A1	HP:0006645	Thin clavicles
1301	COL11A1	HP:0000407	Sensorineural hearing impairment
1301	COL11A1	HP:0000403	Recurrent otitis media
1301	COL11A1	HP:0005280	Depressed nasal bridge
1301	COL11A1	HP:0000483	Astigmatism
1301	COL11A1	HP:0000486	Strabismus
1301	COL11A1	HP:0000485	Megalocornea
1301	COL11A1	HP:0000494	Downslanted palpebral fissures
1301	COL11A1	HP:0000488	Retinopathy
1301	COL11A1	HP:0000463	Anteverted nares
1301	COL11A1	HP:0001789	Hydrops fetalis
1301	COL11A1	HP:0000470	Short neck
1301	COL11A1	HP:0001773	Short foot
1301	COL11A1	HP:0000431	Wide nasal bridge
1301	COL11A1	HP:0025707	Hypoplastic nasal bone
1301	COL11A1	HP:0005476	Widely patent sagittal suture
1301	COL11A1	HP:0005462	Calcification of falx cerebri
1301	COL11A1	HP:0005442	Widely patent coronal suture
1301	COL11A1	HP:0000518	Cataract
1301	COL11A1	HP:0000520	Proptosis
1301	COL11A1	HP:0000505	Visual impairment
1301	COL11A1	HP:0000501	Glaucoma
1301	COL11A1	HP:0001804	Hypoplastic fingernail
1301	COL11A1	HP:0001800	Hypoplastic toenails
1301	COL11A1	HP:0000565	Esotropia
1301	COL11A1	HP:0000541	Retinal detachment
1301	COL11A1	HP:0000545	Myopia
1302	COL11A2	HP:0001156	Brachydactyly
1302	COL11A2	HP:0001376	Limitation of joint mobility
1302	COL11A2	HP:0001371	Flexion contracture
1302	COL11A2	HP:0001367	Abnormal joint morphology
1302	COL11A2	HP:0001357	Plagiocephaly
1302	COL11A2	HP:0006237	Prominent interphalangeal joints
1302	COL11A2	HP:0002656	Epiphyseal dysplasia
1302	COL11A2	HP:0000007	Autosomal recessive inheritance
1302	COL11A2	HP:0000006	Autosomal dominant inheritance
1302	COL11A2	HP:0000193	Bifid uvula
1302	COL11A2	HP:0000160	Narrow mouth
1302	COL11A2	HP:0000162	Glossoptosis
1302	COL11A2	HP:0000175	Cleft palate
1302	COL11A2	HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis
1302	COL11A2	HP:0002758	Osteoarthritis
1302	COL11A2	HP:0004679	Large tarsal bones
1302	COL11A2	HP:0002007	Frontal bossing
1302	COL11A2	HP:0003312	Abnormal form of the vertebral bodies
1302	COL11A2	HP:0011800	Midface retrusion
1302	COL11A2	HP:0002093	Respiratory insufficiency
1302	COL11A2	HP:0100569	Abnormally ossified vertebrae
1302	COL11A2	HP:0005916	Abnormal metacarpal morphology
1302	COL11A2	HP:0003468	Abnormal vertebral morphology
1302	COL11A2	HP:0003417	Coronal cleft vertebrae
1302	COL11A2	HP:0003498	Disproportionate short stature
1302	COL11A2	HP:0100490	Camptodactyly of finger
1302	COL11A2	HP:0011867	Abnormal iliac wing morphology
1302	COL11A2	HP:0010502	Fibular bowing
1302	COL11A2	HP:0010580	Enlarged epiphyses
1302	COL11A2	HP:0003577	Congenital onset
1302	COL11A2	HP:0100777	Exostoses
1302	COL11A2	HP:0009826	Limb undergrowth
1302	COL11A2	HP:0009803	Short phalanx of finger
1302	COL11A2	HP:0004279	Short palm
1302	COL11A2	HP:0010049	Short metacarpal
1302	COL11A2	HP:0010047	Short 5th metacarpal
1302	COL11A2	HP:0011314	Abnormal long bone morphology
1302	COL11A2	HP:0004322	Short stature
1302	COL11A2	HP:0003088	Premature osteoarthritis
1302	COL11A2	HP:0003037	Enlarged joints
1302	COL11A2	HP:0003015	Flared metaphysis
1302	COL11A2	HP:0003016	Metaphyseal widening
1302	COL11A2	HP:0003026	Short long bone
1302	COL11A2	HP:0003021	Metaphyseal cupping
1302	COL11A2	HP:0000772	Abnormal rib morphology
1302	COL11A2	HP:0000767	Pectus excavatum
1302	COL11A2	HP:0000768	Pectus carinatum
1302	COL11A2	HP:0000774	Narrow chest
1302	COL11A2	HP:0000773	Short ribs
1302	COL11A2	HP:0003196	Short nose
1302	COL11A2	HP:0000926	Platyspondyly
1302	COL11A2	HP:0003175	Hypoplastic ischia
1302	COL11A2	HP:0003173	Hypoplastic pubic bone
1302	COL11A2	HP:0000882	Hypoplastic scapulae
1302	COL11A2	HP:0000887	Cupped ribs
1302	COL11A2	HP:0000885	Broad ribs
1302	COL11A2	HP:0004568	Beaking of vertebral bodies
1302	COL11A2	HP:0000946	Hypoplastic ilia
1302	COL11A2	HP:0000944	Abnormal metaphysis morphology
1302	COL11A2	HP:0000940	Abnormal diaphysis morphology
1302	COL11A2	HP:0040163	Abnormal pelvis bone morphology
1302	COL11A2	HP:0025573	Mild myopia
1302	COL11A2	HP:0001591	Bell-shaped thorax
1302	COL11A2	HP:0000260	Wide anterior fontanel
1302	COL11A2	HP:0000272	Malar flattening
1302	COL11A2	HP:0002829	Arthralgia
1302	COL11A2	HP:0006375	Dumbbell-shaped femur
1302	COL11A2	HP:0001561	Polyhydramnios
1302	COL11A2	HP:0001539	Omphalocele
1302	COL11A2	HP:0001538	Protuberant abdomen
1302	COL11A2	HP:0000201	Pierre-Robin sequence
1302	COL11A2	HP:0002834	Flared femoral metaphysis
1302	COL11A2	HP:0012368	Flat face
1302	COL11A2	HP:0005257	Thoracic hypoplasia
1302	COL11A2	HP:0006532	Recurrent pneumonia
1302	COL11A2	HP:0002938	Lumbar hyperlordosis
1302	COL11A2	HP:0000364	Hearing abnormality
1302	COL11A2	HP:0000358	Posteriorly rotated ears
1302	COL11A2	HP:0011003	High myopia
1302	COL11A2	HP:0000369	Low-set ears
1302	COL11A2	HP:0000343	Long philtrum
1302	COL11A2	HP:0000336	Prominent supraorbital ridges
1302	COL11A2	HP:0000347	Micrognathia
1302	COL11A2	HP:0002982	Tibial bowing
1302	COL11A2	HP:0002983	Micromelia
1302	COL11A2	HP:0000316	Hypertelorism
1302	COL11A2	HP:0000311	Round face
1302	COL11A2	HP:0007964	Degenerative vitreoretinopathy
1302	COL11A2	HP:0000407	Sensorineural hearing impairment
1302	COL11A2	HP:0005280	Depressed nasal bridge
1302	COL11A2	HP:0000486	Strabismus
1302	COL11A2	HP:0000478	Abnormality of the eye
1302	COL11A2	HP:0000494	Downslanted palpebral fissures
1302	COL11A2	HP:0000463	Anteverted nares
1302	COL11A2	HP:0000470	Short neck
1302	COL11A2	HP:0000414	Bulbous nose
1302	COL11A2	HP:0000410	Mixed hearing impairment
1302	COL11A2	HP:0000518	Cataract
1302	COL11A2	HP:0001852	Sandal gap
1302	COL11A2	HP:0000520	Proptosis
1302	COL11A2	HP:0001804	Hypoplastic fingernail
1302	COL11A2	HP:0000541	Retinal detachment
1302	COL11A2	HP:0000540	Hypermetropia
1303	COL12A1	HP:0001182	Tapered finger
1303	COL12A1	HP:0001181	Adducted thumb
1303	COL12A1	HP:0002460	Distal muscle weakness
1303	COL12A1	HP:0010862	Delayed fine motor development
1303	COL12A1	HP:0003731	Quadriceps muscle weakness
1303	COL12A1	HP:0003741	Congenital muscular dystrophy
1303	COL12A1	HP:0003701	Proximal muscle weakness
1303	COL12A1	HP:0003700	Generalized amyotrophy
1303	COL12A1	HP:0001290	Generalized hypotonia
1303	COL12A1	HP:0001270	Motor delay
1303	COL12A1	HP:0001288	Gait disturbance
1303	COL12A1	HP:0001284	Areflexia
1303	COL12A1	HP:0001252	Hypotonia
1303	COL12A1	HP:0001239	Wrist flexion contracture
1303	COL12A1	HP:0001238	Slender finger
1303	COL12A1	HP:0001220	Interphalangeal joint contracture of finger
1303	COL12A1	HP:0002515	Waddling gait
1303	COL12A1	HP:0003805	Rimmed vacuoles
1303	COL12A1	HP:0001371	Flexion contracture
1303	COL12A1	HP:0025335	Delayed ability to stand
1303	COL12A1	HP:0001382	Joint hypermobility
1303	COL12A1	HP:0006149	Increased laxity of fingers
1303	COL12A1	HP:0008780	Congenital bilateral hip dislocation
1303	COL12A1	HP:0001324	Muscle weakness
1303	COL12A1	HP:0000007	Autosomal recessive inheritance
1303	COL12A1	HP:0000006	Autosomal dominant inheritance
1303	COL12A1	HP:0002650	Scoliosis
1303	COL12A1	HP:0001319	Neonatal hypotonia
1303	COL12A1	HP:0000174	Abnormal palate morphology
1303	COL12A1	HP:0002705	High, narrow palate
1303	COL12A1	HP:0002791	Hypoventilation
1303	COL12A1	HP:0025403	Stooped posture
1303	COL12A1	HP:0002751	Kyphoscoliosis
1303	COL12A1	HP:0003327	Axial muscle weakness
1303	COL12A1	HP:0005988	Congenital muscular torticollis
1303	COL12A1	HP:0003325	Limb-girdle muscle weakness
1303	COL12A1	HP:0003307	Hyperlordosis
1303	COL12A1	HP:0003306	Spinal rigidity
1303	COL12A1	HP:0003324	Generalized muscle weakness
1303	COL12A1	HP:0002086	Abnormality of the respiratory system
1303	COL12A1	HP:0003391	Gowers sign
1303	COL12A1	HP:0010499	Patellar subluxation
1303	COL12A1	HP:0008180	Mildly elevated creatine kinase
1303	COL12A1	HP:0009473	Joint contracture of the hand
1303	COL12A1	HP:0003458	EMG: myopathic abnormalities
1303	COL12A1	HP:0100490	Camptodactyly of finger
1303	COL12A1	HP:0010511	Long toe
1303	COL12A1	HP:0003593	Infantile onset
1303	COL12A1	HP:0003546	Exercise intolerance
1303	COL12A1	HP:0003560	Muscular dystrophy
1303	COL12A1	HP:0003557	Increased variability in muscle fiber diameter
1303	COL12A1	HP:0008366	Foot joint contracture
1303	COL12A1	HP:0010628	Facial palsy
1303	COL12A1	HP:0001058	Poor wound healing
1303	COL12A1	HP:0003691	Scapular winging
1303	COL12A1	HP:0002359	Frequent falls
1303	COL12A1	HP:0002355	Difficulty walking
1303	COL12A1	HP:0001073	Cigarette-paper scars
1303	COL12A1	HP:0001075	Atrophic scars
1303	COL12A1	HP:0032152	Keratosis pilaris
1303	COL12A1	HP:0003623	Neonatal onset
1303	COL12A1	HP:0020152	Distal joint laxity
1303	COL12A1	HP:0009073	Progressive proximal muscle weakness
1303	COL12A1	HP:0009058	Increased muscle lipid content
1303	COL12A1	HP:0009046	Difficulty running
1303	COL12A1	HP:0009027	Foot dorsiflexor weakness
1303	COL12A1	HP:0004303	Abnormal muscle fiber morphology
1303	COL12A1	HP:0003044	Shoulder flexion contracture
1303	COL12A1	HP:0031936	Delayed ability to walk
1303	COL12A1	HP:0000767	Pectus excavatum
1303	COL12A1	HP:0010176	Curved toe phalanx
1303	COL12A1	HP:0009113	Diaphragmatic weakness
1303	COL12A1	HP:0003198	Myopathy
1303	COL12A1	HP:0003199	Decreased muscle mass
1303	COL12A1	HP:0003236	Elevated circulating creatine kinase concentration
1303	COL12A1	HP:0005879	Congenital finger flexion contractures
1303	COL12A1	HP:0000980	Pallor
1303	COL12A1	HP:0000977	Soft skin
1303	COL12A1	HP:0000974	Hyperextensible skin
1303	COL12A1	HP:0000962	Hyperkeratosis
1303	COL12A1	HP:0008081	Pes valgus
1303	COL12A1	HP:0100297	Increased endomysial connective tissue
1303	COL12A1	HP:0006466	Ankle flexion contracture
1303	COL12A1	HP:0002827	Hip dislocation
1303	COL12A1	HP:0002828	Multiple joint contractures
1303	COL12A1	HP:0005072	Hyperextensibility at wrists
1303	COL12A1	HP:0002808	Kyphosis
1303	COL12A1	HP:0002803	Congenital contracture
1303	COL12A1	HP:0030095	Reduced muscle collagen VI
1303	COL12A1	HP:0006380	Knee flexion contracture
1303	COL12A1	HP:0002878	Respiratory failure
1303	COL12A1	HP:0000218	High palate
1303	COL12A1	HP:0002877	Nocturnal hypoventilation
1303	COL12A1	HP:0001558	Decreased fetal movement
1303	COL12A1	HP:0001508	Failure to thrive
1303	COL12A1	HP:0030051	Tip-toe gait
1303	COL12A1	HP:0002938	Lumbar hyperlordosis
1303	COL12A1	HP:0001601	Laryngomalacia
1303	COL12A1	HP:0000347	Micrognathia
1303	COL12A1	HP:0002987	Elbow flexion contracture
1303	COL12A1	HP:0030319	Weakness of facial musculature
1303	COL12A1	HP:0012497	Reduced maximal expiratory pressure
1303	COL12A1	HP:0000473	Torticollis
1303	COL12A1	HP:0000470	Short neck
1303	COL12A1	HP:0000467	Neck muscle weakness
1303	COL12A1	HP:0001771	Achilles tendon contracture
1303	COL12A1	HP:0001763	Pes planus
1303	COL12A1	HP:0001762	Talipes equinovarus
1303	COL12A1	HP:0000592	Blue sclerae
1303	COL12A1	HP:0000565	Esotropia
1303	COL12A1	HP:0000545	Myopia
1305	COL13A1	HP:0002460	Distal muscle weakness
1305	COL13A1	HP:0002421	Poor head control
1305	COL13A1	HP:0003722	Neck flexor weakness
1305	COL13A1	HP:0003701	Proximal muscle weakness
1305	COL13A1	HP:0001290	Generalized hypotonia
1305	COL13A1	HP:0001270	Motor delay
1305	COL13A1	HP:0001283	Bulbar palsy
1305	COL13A1	HP:0001284	Areflexia
1305	COL13A1	HP:0001250	Seizure
1305	COL13A1	HP:0001252	Hypotonia
1305	COL13A1	HP:0001251	Ataxia
1305	COL13A1	HP:0001249	Intellectual disability
1305	COL13A1	HP:0001265	Hyporeflexia
1305	COL13A1	HP:0002515	Waddling gait
1305	COL13A1	HP:0003803	Type 1 muscle fiber predominance
1305	COL13A1	HP:0001374	Congenital hip dislocation
1305	COL13A1	HP:0001388	Joint laxity
1305	COL13A1	HP:0410011	Abnormality of masticatory muscle
1305	COL13A1	HP:0001324	Muscle weakness
1305	COL13A1	HP:0000007	Autosomal recessive inheritance
1305	COL13A1	HP:0002650	Scoliosis
1305	COL13A1	HP:0001315	Reduced tendon reflexes
1305	COL13A1	HP:0031108	Triceps weakness
1305	COL13A1	HP:0002783	Recurrent lower respiratory tract infections
1305	COL13A1	HP:0001446	Abnormality of the musculature of the upper limbs
1305	COL13A1	HP:0002792	Reduced vital capacity
1305	COL13A1	HP:0025401	Staring gaze
1305	COL13A1	HP:0002751	Kyphoscoliosis
1305	COL13A1	HP:0002020	Gastroesophageal reflux
1305	COL13A1	HP:0002033	Poor suck
1305	COL13A1	HP:0004661	Frontalis muscle weakness
1305	COL13A1	HP:0003327	Axial muscle weakness
1305	COL13A1	HP:0003325	Limb-girdle muscle weakness
1305	COL13A1	HP:0002015	Dysphagia
1305	COL13A1	HP:0003306	Spinal rigidity
1305	COL13A1	HP:0003324	Generalized muscle weakness
1305	COL13A1	HP:0005943	Respiratory arrest
1305	COL13A1	HP:0002093	Respiratory insufficiency
1305	COL13A1	HP:0002091	Restrictive ventilatory defect
1305	COL13A1	HP:0003388	Easy fatigability
1305	COL13A1	HP:0003473	Fatigable weakness
1305	COL13A1	HP:0003484	Upper limb muscle weakness
1305	COL13A1	HP:0003458	EMG: myopathic abnormalities
1305	COL13A1	HP:0003443	Decreased size of nerve terminals
1305	COL13A1	HP:0003402	Decreased miniature endplate potentials
1305	COL13A1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
1305	COL13A1	HP:0002194	Delayed gross motor development
1305	COL13A1	HP:0010536	Central sleep apnea
1305	COL13A1	HP:0003577	Congenital onset
1305	COL13A1	HP:0004885	Episodic respiratory distress
1305	COL13A1	HP:0003547	Shoulder girdle muscle weakness
1305	COL13A1	HP:0003546	Exercise intolerance
1305	COL13A1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
1305	COL13A1	HP:0003557	Increased variability in muscle fiber diameter
1305	COL13A1	HP:0002205	Recurrent respiratory infections
1305	COL13A1	HP:0011968	Feeding difficulties
1305	COL13A1	HP:0010628	Facial palsy
1305	COL13A1	HP:0002392	EEG with polyspike wave complexes
1305	COL13A1	HP:0003693	Distal amyotrophy
1305	COL13A1	HP:0002355	Difficulty walking
1305	COL13A1	HP:0002329	Drowsiness
1305	COL13A1	HP:0008443	Neuropathic spinal arthropathy
1305	COL13A1	HP:0020152	Distal joint laxity
1305	COL13A1	HP:0007178	Motor polyneuropathy
1305	COL13A1	HP:0009077	Weakness of long finger extensor muscles
1305	COL13A1	HP:0000639	Nystagmus
1305	COL13A1	HP:0000651	Diplopia
1305	COL13A1	HP:0000602	Ophthalmoplegia
1305	COL13A1	HP:0009053	Distal lower limb muscle weakness
1305	COL13A1	HP:0009005	Weakness of the intrinsic hand muscles
1305	COL13A1	HP:0005659	Thoracic kyphoscoliosis
1305	COL13A1	HP:0000768	Pectus carinatum
1305	COL13A1	HP:0011469	Nasal regurgitation
1305	COL13A1	HP:0012764	Orthopnea
1305	COL13A1	HP:0012801	Narrow jaw
1305	COL13A1	HP:0003202	Skeletal muscle atrophy
1305	COL13A1	HP:0030842	Choking episodes
1305	COL13A1	HP:0010307	Stridor
1305	COL13A1	HP:0100285	EMG: impaired neuromuscular transmission
1305	COL13A1	HP:0000961	Cyanosis
1305	COL13A1	HP:0100295	Muscle fiber atrophy
1305	COL13A1	HP:0000278	Retrognathia
1305	COL13A1	HP:0000276	Long face
1305	COL13A1	HP:0002804	Arthrogryposis multiplex congenita
1305	COL13A1	HP:0001552	Barrel-shaped chest
1305	COL13A1	HP:0002882	Sudden episodic apnea
1305	COL13A1	HP:0002878	Respiratory failure
1305	COL13A1	HP:0000218	High palate
1305	COL13A1	HP:0002875	Exertional dyspnea
1305	COL13A1	HP:0001561	Polyhydramnios
1305	COL13A1	HP:0001558	Decreased fetal movement
1305	COL13A1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
1305	COL13A1	HP:0002870	Obstructive sleep apnea
1305	COL13A1	HP:0031374	Ankle weakness
1305	COL13A1	HP:0030051	Tip-toe gait
1305	COL13A1	HP:0030205	Increased jitter at single fiber EMG
1305	COL13A1	HP:0030208	Anti-acetylcholine receptor antibody positivity
1305	COL13A1	HP:0001618	Dysphonia
1305	COL13A1	HP:0030196	Fatigable weakness of respiratory muscles
1305	COL13A1	HP:0001612	Weak cry
1305	COL13A1	HP:0001611	Hypernasal speech
1305	COL13A1	HP:0030199	Fatigable weakness of neck muscles
1305	COL13A1	HP:0000369	Low-set ears
1305	COL13A1	HP:0000347	Micrognathia
1305	COL13A1	HP:0000308	Microretrognathia
1305	COL13A1	HP:0000407	Sensorineural hearing impairment
1305	COL13A1	HP:0000496	Abnormality of eye movement
1305	COL13A1	HP:0000467	Neck muscle weakness
1305	COL13A1	HP:0001761	Pes cavus
1305	COL13A1	HP:0000508	Ptosis
1305	COL13A1	HP:0000597	Ophthalmoparesis
1305	COL13A1	HP:0000565	Esotropia
1305	COL13A1	HP:0012515	Hip flexor weakness
1308	COL17A1	HP:0001131	Corneal dystrophy
1308	COL17A1	HP:0009926	Epiphora
1308	COL17A1	HP:0007412	Macular hyperpigmented dermopathy
1308	COL17A1	HP:0031045	Acral blistering
1308	COL17A1	HP:0012056	Cutaneous melanoma
1308	COL17A1	HP:0000079	Abnormality of the urinary system
1308	COL17A1	HP:0007455	Adermatoglyphia
1308	COL17A1	HP:0002671	Basal cell carcinoma
1308	COL17A1	HP:0000007	Autosomal recessive inheritance
1308	COL17A1	HP:0000006	Autosomal dominant inheritance
1308	COL17A1	HP:0006297	Enamel hypoplasia
1308	COL17A1	HP:0003341	Lamina lucida cleavage
1308	COL17A1	HP:0010562	Keloids
1308	COL17A1	HP:0003577	Congenital onset
1308	COL17A1	HP:0002215	Sparse axillary hair
1308	COL17A1	HP:0002231	Sparse body hair
1308	COL17A1	HP:0002225	Sparse pubic hair
1308	COL17A1	HP:0008404	Nail dystrophy
1308	COL17A1	HP:0009722	Dental enamel pits
1308	COL17A1	HP:0200097	Oral mucosal blisters
1308	COL17A1	HP:0008391	Dystrophic fingernails
1308	COL17A1	HP:0001056	Milia
1308	COL17A1	HP:0001057	Aplasia cutis congenita
1308	COL17A1	HP:0001030	Fragile skin
1308	COL17A1	HP:0001000	Abnormality of skin pigmentation
1308	COL17A1	HP:0200026	Ocular pain
1308	COL17A1	HP:0200020	Corneal erosion
1308	COL17A1	HP:0001097	Keratoconjunctivitis sicca
1308	COL17A1	HP:0001075	Atrophic scars
1308	COL17A1	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes
1308	COL17A1	HP:0032156	Skin detachment
1308	COL17A1	HP:0003621	Juvenile onset
1308	COL17A1	HP:0001965	Abnormal scalp morphology
1308	COL17A1	HP:0000613	Photophobia
1308	COL17A1	HP:0000622	Blurred vision
1308	COL17A1	HP:0001903	Anemia
1308	COL17A1	HP:0031792	Irregular astigmatism
1308	COL17A1	HP:0011355	Localized skin lesion
1308	COL17A1	HP:0000670	Carious teeth
1308	COL17A1	HP:0004386	Gastrointestinal inflammation
1308	COL17A1	HP:0011463	Childhood onset
1308	COL17A1	HP:0003121	Limb joint contracture
1308	COL17A1	HP:0004552	Scarring alopecia of scalp
1308	COL17A1	HP:0004529	Atrophic, patchy alopecia
1308	COL17A1	HP:0000975	Hyperhidrosis
1308	COL17A1	HP:0000987	Atypical scarring of skin
1308	COL17A1	HP:0000982	Palmoplantar keratoderma
1308	COL17A1	HP:0008066	Abnormal blistering of the skin
1308	COL17A1	HP:0008039	Subepithelial corneal opacities
1308	COL17A1	HP:0012252	Abnormal respiratory system morphology
1308	COL17A1	HP:0002860	Squamous cell carcinoma
1308	COL17A1	HP:0001510	Growth delay
1308	COL17A1	HP:0011073	Abnormality of dental color
1308	COL17A1	HP:0031464	Genital blistering
1308	COL17A1	HP:0004057	Mitten deformity
1308	COL17A1	HP:0000478	Abnormality of the eye
1308	COL17A1	HP:0000495	Recurrent corneal erosions
1308	COL17A1	HP:0001798	Anonychia
1308	COL17A1	HP:0000529	Progressive visual loss
1308	COL17A1	HP:0000505	Visual impairment
1308	COL17A1	HP:0001810	Dystrophic toenail
1308	COL17A1	HP:0000559	Corneal scarring
1311	COMP	HP:0001156	Brachydactyly
1311	COMP	HP:0009882	Short distal phalanx of finger
1311	COMP	HP:0003756	Skeletal myopathy
1311	COMP	HP:0001288	Gait disturbance
1311	COMP	HP:0001249	Intellectual disability
1311	COMP	HP:0100864	Short femoral neck
1311	COMP	HP:0002515	Waddling gait
1311	COMP	HP:0033660	Hand paresthesia
1311	COMP	HP:0006094	Finger joint hypermobility
1311	COMP	HP:0033673	Positive Phalen test
1311	COMP	HP:0033672	Positive carpal Tinel sign
1311	COMP	HP:0008807	Acetabular dysplasia
1311	COMP	HP:0008800	Limited hip movement
1311	COMP	HP:0001377	Limited elbow extension
1311	COMP	HP:0001376	Limitation of joint mobility
1311	COMP	HP:0001385	Hip dysplasia
1311	COMP	HP:0001388	Joint laxity
1311	COMP	HP:0001387	Joint stiffness
1311	COMP	HP:0008873	Disproportionate short-limb short stature
1311	COMP	HP:0008839	Hypoplastic pelvis
1311	COMP	HP:0008843	Hip osteoarthritis
1311	COMP	HP:0008833	Irregular acetabular roof
1311	COMP	HP:0006149	Increased laxity of fingers
1311	COMP	HP:0002663	Delayed epiphyseal ossification
1311	COMP	HP:0002656	Epiphyseal dysplasia
1311	COMP	HP:0000006	Autosomal dominant inheritance
1311	COMP	HP:0002650	Scoliosis
1311	COMP	HP:0012185	Constrictive median neuropathy
1311	COMP	HP:0001498	Carpal bone hypoplasia
1311	COMP	HP:0002761	Generalized joint laxity
1311	COMP	HP:0002758	Osteoarthritis
1311	COMP	HP:0030973	Postexertional symptom exacerbation
1311	COMP	HP:0003365	Arthralgia of the hip
1311	COMP	HP:0003312	Abnormal form of the vertebral bodies
1311	COMP	HP:0003311	Hypoplasia of the odontoid process
1311	COMP	HP:0003301	Irregular vertebral endplates
1311	COMP	HP:0003300	Ovoid vertebral bodies
1311	COMP	HP:0100531	Wind-swept deformity of the knees
1311	COMP	HP:0003393	Thenar muscle atrophy
1311	COMP	HP:0009487	Ulnar deviation of the hand
1311	COMP	HP:0003414	Atlantoaxial dislocation
1311	COMP	HP:0003498	Disproportionate short stature
1311	COMP	HP:0010585	Small epiphyses
1311	COMP	HP:0010579	Cone-shaped epiphysis
1311	COMP	HP:0010582	Irregular epiphyses
1311	COMP	HP:0046505	Hand pain
1311	COMP	HP:0010646	Cervical spine instability
1311	COMP	HP:0003510	Severe short stature
1311	COMP	HP:0003502	Mild short stature
1311	COMP	HP:0002341	Cervical cord compression
1311	COMP	HP:0009826	Limb undergrowth
1311	COMP	HP:0009803	Short phalanx of finger
1311	COMP	HP:0020152	Distal joint laxity
1311	COMP	HP:0004236	Irregular carpal bones
1311	COMP	HP:0100168	Fragmented epiphyses
1311	COMP	HP:0010049	Short metacarpal
1311	COMP	HP:0003049	Ulnar deviation of the wrist
1311	COMP	HP:0003015	Flared metaphysis
1311	COMP	HP:0003016	Metaphyseal widening
1311	COMP	HP:0003026	Short long bone
1311	COMP	HP:0003025	Metaphyseal irregularity
1311	COMP	HP:0009107	Abnormal ossification involving the femoral head and neck
1311	COMP	HP:0011405	Childhood onset short-limb short stature
1311	COMP	HP:0000763	Sensory neuropathy
1311	COMP	HP:0005743	Avascular necrosis of the capital femoral epiphysis
1311	COMP	HP:0005720	Shortening of all metacarpals
1311	COMP	HP:0000926	Platyspondyly
1311	COMP	HP:0003170	Abnormal acetabulum morphology
1311	COMP	HP:0003180	Flat acetabular roof
1311	COMP	HP:0003093	Limited hip extension
1311	COMP	HP:0003090	Hypoplasia of the capital femoral epiphysis
1311	COMP	HP:0010236	Small epiphyses of the phalanges of the hand
1311	COMP	HP:0004568	Beaking of vertebral bodies
1311	COMP	HP:0045086	Knee joint hypermobility
1311	COMP	HP:0030839	Knee pain
1311	COMP	HP:0030840	Ankle pain
1311	COMP	HP:0006460	Increased laxity of ankles
1311	COMP	HP:0006467	Limited shoulder movement
1311	COMP	HP:0006429	Broad femoral neck
1311	COMP	HP:0002816	Genu recurvatum
1311	COMP	HP:0002812	Coxa vara
1311	COMP	HP:0002829	Arthralgia
1311	COMP	HP:0002808	Kyphosis
1311	COMP	HP:0005063	Fragmented, irregular epiphyses
1311	COMP	HP:0002857	Genu valgum
1311	COMP	HP:0002834	Flared femoral metaphysis
1311	COMP	HP:0002938	Lumbar hyperlordosis
1311	COMP	HP:0006499	Abnormal femoral epiphysis morphology
1311	COMP	HP:0012307	Spatulate ribs
1311	COMP	HP:0002970	Genu varum
1311	COMP	HP:0004042	Ulnar metaphyseal irregularity
1311	COMP	HP:0004019	Radial metaphyseal irregularity
1311	COMP	HP:0001763	Pes planus
1312	COMT	HP:0001166	Arachnodactyly
1312	COMT	HP:0001161	Hand polydactyly
1312	COMT	HP:0001136	Retinal arteriolar tortuosity
1312	COMT	HP:0002435	Meningocele
1312	COMT	HP:0007302	Bipolar affective disorder
1312	COMT	HP:0007271	Occipital myelomeningocele
1312	COMT	HP:0002414	Spina bifida
1312	COMT	HP:0001281	Tetany
1312	COMT	HP:0001256	Intellectual disability, mild
1312	COMT	HP:0001250	Seizure
1312	COMT	HP:0001252	Hypotonia
1312	COMT	HP:0001249	Intellectual disability
1312	COMT	HP:0001263	Global developmental delay
1312	COMT	HP:0002566	Intestinal malrotation
1312	COMT	HP:0410291	Negativism
1312	COMT	HP:0000089	Renal hypoplasia
1312	COMT	HP:0000076	Vesicoureteral reflux
1312	COMT	HP:0001369	Arthritis
1312	COMT	HP:0000047	Hypospadias
1312	COMT	HP:0000023	Inguinal hernia
1312	COMT	HP:0002691	Platybasia
1312	COMT	HP:0000028	Cryptorchidism
1312	COMT	HP:0008872	Feeding difficulties in infancy
1312	COMT	HP:0001328	Specific learning disability
1312	COMT	HP:0000006	Autosomal dominant inheritance
1312	COMT	HP:0002650	Scoliosis
1312	COMT	HP:0002619	Varicose veins
1312	COMT	HP:0002607	Bowel incontinence
1312	COMT	HP:0000164	Abnormality of the dentition
1312	COMT	HP:0000160	Narrow mouth
1312	COMT	HP:0000175	Cleft palate
1312	COMT	HP:0000113	Polycystic kidney dysplasia
1312	COMT	HP:0000130	Abnormality of the uterus
1312	COMT	HP:0002721	Immunodeficiency
1312	COMT	HP:0002023	Anal atresia
1312	COMT	HP:0002020	Gastroesophageal reflux
1312	COMT	HP:0002019	Constipation
1312	COMT	HP:0003326	Myalgia
1312	COMT	HP:0002099	Asthma
1312	COMT	HP:0002139	Arrhinencephaly
1312	COMT	HP:0002101	Abnormal lung lobation
1312	COMT	HP:0002239	Gastrointestinal hemorrhage
1312	COMT	HP:0002251	Aganglionic megacolon
1312	COMT	HP:0100765	Abnormality of the tonsils
1312	COMT	HP:0100735	Hypertensive crisis
1312	COMT	HP:0100750	Atelectasis
1312	COMT	HP:0100753	Schizophrenia
1312	COMT	HP:0007018	Attention deficit hyperactivity disorder
1312	COMT	HP:0007086	Social and occupational deterioration
1312	COMT	HP:0001051	Seborrheic dermatitis
1312	COMT	HP:0001053	Hypopigmented skin patches
1312	COMT	HP:0002381	Aphasia
1312	COMT	HP:0001061	Acne
1312	COMT	HP:0002353	EEG abnormality
1312	COMT	HP:0001081	Cholelithiasis
1312	COMT	HP:0005562	Multiple renal cysts
1312	COMT	HP:0000648	Optic atrophy
1312	COMT	HP:0000627	Posterior embryotoxon
1312	COMT	HP:0000600	Abnormality of the pharynx
1312	COMT	HP:0000682	Abnormal dental enamel morphology
1312	COMT	HP:0011324	Multiple suture craniosynostosis
1312	COMT	HP:0000670	Carious teeth
1312	COMT	HP:0001999	Abnormal facial shape
1312	COMT	HP:0004322	Short stature
1312	COMT	HP:0030680	Abnormality of cardiovascular system morphology
1312	COMT	HP:0005692	Joint hyperflexibility
1312	COMT	HP:0012732	Anorectal anomaly
1312	COMT	HP:0000765	Abnormal thorax morphology
1312	COMT	HP:0000738	Hallucinations
1312	COMT	HP:0000739	Anxiety
1312	COMT	HP:0000746	Delusions
1312	COMT	HP:0000716	Depression
1312	COMT	HP:0000717	Autism
1312	COMT	HP:0000708	Atypical behavior
1312	COMT	HP:0011496	Corneal neovascularization
1312	COMT	HP:0000778	Hypoplasia of the thymus
1312	COMT	HP:0000929	Abnormal skull morphology
1312	COMT	HP:0000836	Hyperthyroidism
1312	COMT	HP:0000829	Hypoparathyroidism
1312	COMT	HP:0000821	Hypothyroidism
1312	COMT	HP:0011662	Tricuspid atresia
1312	COMT	HP:0000979	Purpura
1312	COMT	HP:0000286	Epicanthus
1312	COMT	HP:0000262	Turricephaly
1312	COMT	HP:0000276	Long face
1312	COMT	HP:0000272	Malar flattening
1312	COMT	HP:0000238	Hydrocephalus
1312	COMT	HP:0000252	Microcephaly
1312	COMT	HP:0001561	Polyhydramnios
1312	COMT	HP:0001537	Umbilical hernia
1312	COMT	HP:0001508	Failure to thrive
1312	COMT	HP:0001511	Intrauterine growth retardation
1312	COMT	HP:0001513	Obesity
1312	COMT	HP:0006510	Chronic pulmonary obstruction
1312	COMT	HP:0000385	Small earlobe
1312	COMT	HP:0000396	Overfolded helix
1312	COMT	HP:0000389	Chronic otitis media
1312	COMT	HP:0001601	Laryngomalacia
1312	COMT	HP:0001611	Hypernasal speech
1312	COMT	HP:0002901	Hypocalcemia
1312	COMT	HP:0000365	Hearing impairment
1312	COMT	HP:0000369	Low-set ears
1312	COMT	HP:0000343	Long philtrum
1312	COMT	HP:0002999	Patellar dislocation
1312	COMT	HP:0000347	Micrognathia
1312	COMT	HP:0012303	Abnormal aortic arch morphology
1312	COMT	HP:0000316	Hypertelorism
1312	COMT	HP:0001646	Abnormal aortic valve morphology
1312	COMT	HP:0001643	Patent ductus arteriosus
1312	COMT	HP:0001660	Truncus arteriosus
1312	COMT	HP:0000322	Short philtrum
1312	COMT	HP:0002960	Autoimmunity
1312	COMT	HP:0001629	Ventricular septal defect
1312	COMT	HP:0001641	Abnormal pulmonary valve morphology
1312	COMT	HP:0001636	Tetralogy of Fallot
1312	COMT	HP:0001631	Atrial septal defect
1312	COMT	HP:0000405	Conductive hearing impairment
1312	COMT	HP:0000486	Strabismus
1312	COMT	HP:0000494	Downslanted palpebral fissures
1312	COMT	HP:0000492	Abnormal eyelid morphology
1312	COMT	HP:0000470	Short neck
1312	COMT	HP:0000453	Choanal atresia
1312	COMT	HP:0000414	Bulbous nose
1312	COMT	HP:0001744	Splenomegaly
1312	COMT	HP:0001762	Talipes equinovarus
1312	COMT	HP:0000431	Wide nasal bridge
1312	COMT	HP:0000426	Prominent nasal bridge
1312	COMT	HP:0005435	Impaired T cell function
1312	COMT	HP:0000518	Cataract
1312	COMT	HP:0001829	Foot polydactyly
1312	COMT	HP:0000506	Telecanthus
1312	COMT	HP:0000508	Ptosis
1312	COMT	HP:0000501	Glaucoma
1312	COMT	HP:0000582	Upslanted palpebral fissure
1312	COMT	HP:0000568	Microphthalmia
1312	COMT	HP:0001872	Abnormality of thrombocytes
1312	COMT	HP:0001873	Thrombocytopenia
1314	COPA	HP:0008653	Crescentic glomerulonephritis
1314	COPA	HP:0001369	Arthritis
1314	COPA	HP:0000006	Autosomal dominant inheritance
1314	COPA	HP:0002789	Tachypnea
1314	COPA	HP:0002094	Dyspnea
1314	COPA	HP:0002091	Restrictive ventilatory defect
1314	COPA	HP:0003493	Antinuclear antibody positivity
1314	COPA	HP:0003565	Elevated erythrocyte sedimentation rate
1314	COPA	HP:0012735	Cough
1314	COPA	HP:0011463	Childhood onset
1314	COPA	HP:0040223	Pulmonary hemorrhage
1314	COPA	HP:0045051	Decreased DLCO
1314	COPA	HP:0002829	Arthralgia
1314	COPA	HP:0006530	Abnormal pulmonary interstitial morphology
1314	COPA	HP:0032979	Hemosiderin-laden macrophages in bronchoalveolar fluid
1314	COPA	HP:0012574	Mesangial hypercellularity
1314	COPA	HP:0011227	Elevated circulating C-reactive protein concentration
1315	COPB1	HP:0001182	Tapered finger
1315	COPB1	HP:0010864	Intellectual disability, severe
1315	COPB1	HP:0001257	Spasticity
1315	COPB1	HP:0007359	Focal-onset seizure
1315	COPB1	HP:0002540	Inability to walk
1315	COPB1	HP:0000020	Urinary incontinence
1315	COPB1	HP:0001332	Dystonia
1315	COPB1	HP:0001344	Absent speech
1315	COPB1	HP:0000007	Autosomal recessive inheritance
1315	COPB1	HP:0001319	Neonatal hypotonia
1315	COPB1	HP:0002705	High, narrow palate
1315	COPB1	HP:0002076	Migraine
1315	COPB1	HP:0003593	Infantile onset
1315	COPB1	HP:0002283	Global brain atrophy
1315	COPB1	HP:0001065	Striae distensae
1315	COPB1	HP:0001007	Hirsutism
1315	COPB1	HP:0031936	Delayed ability to walk
1315	COPB1	HP:0000750	Delayed speech and language development
1315	COPB1	HP:0000957	Cafe-au-lait spot
1315	COPB1	HP:0000956	Acanthosis nigricans
1315	COPB1	HP:0002808	Kyphosis
1315	COPB1	HP:0000252	Microcephaly
1315	COPB1	HP:0001513	Obesity
1315	COPB1	HP:0001763	Pes planus
1315	COPB1	HP:0000518	Cataract
1315	COPB1	HP:0000582	Upslanted palpebral fissure
1316	KLF6	HP:0000006	Autosomal dominant inheritance
1316	KLF6	HP:0012125	Prostate cancer
1316	KLF6	HP:0012126	Stomach cancer
1316	KLF6	HP:0410067	Increased level of L-fucose in urine
1316	KLF6	HP:0001428	Somatic mutation
1326	MAP3K8	HP:0000006	Autosomal dominant inheritance
1326	MAP3K8	HP:0001428	Somatic mutation
1326	MAP3K8	HP:0030078	Lung adenocarcinoma
1326	MAP3K8	HP:0006519	Alveolar cell carcinoma
1326	MAP3K8	HP:0030358	Non-small cell lung carcinoma
1327	COX4I1	HP:0002490	Increased CSF lactate
1327	COX4I1	HP:0002421	Poor head control
1327	COX4I1	HP:0033503	Elevated CSF fumarate concentration
1327	COX4I1	HP:0001290	Generalized hypotonia
1327	COX4I1	HP:0001272	Cerebellar atrophy
1327	COX4I1	HP:0002521	Hypsarrhythmia
1327	COX4I1	HP:0000007	Autosomal recessive inheritance
1327	COX4I1	HP:0001336	Myoclonus
1327	COX4I1	HP:0002750	Delayed skeletal maturation
1327	COX4I1	HP:0002007	Frontal bossing
1327	COX4I1	HP:0002059	Cerebral atrophy
1327	COX4I1	HP:0002151	Increased serum lactate
1327	COX4I1	HP:0011917	Short 5th toe
1327	COX4I1	HP:0008347	Decreased activity of mitochondrial complex IV
1327	COX4I1	HP:0007083	Hyperactive patellar reflex
1327	COX4I1	HP:0002376	Developmental regression
1327	COX4I1	HP:0004325	Decreased body weight
1327	COX4I1	HP:0004322	Short stature
1327	COX4I1	HP:0005643	Short 3rd toe
1327	COX4I1	HP:0009237	Short 5th finger
1327	COX4I1	HP:0003221	Chromosomal breakage induced by crosslinking agents
1327	COX4I1	HP:0008093	Short 4th toe
1327	COX4I1	HP:0001508	Failure to thrive
1327	COX4I1	HP:0011097	Epileptic spasm
1327	COX4I1	HP:0000426	Prominent nasal bridge
1327	COX4I1	HP:0001885	Short 2nd toe
1337	COX6A1	HP:0001284	Areflexia
1337	COX6A1	HP:0001265	Hyporeflexia
1337	COX6A1	HP:0000007	Autosomal recessive inheritance
1337	COX6A1	HP:0003376	Steppage gait
1337	COX6A1	HP:0003383	Onion bulb formation
1337	COX6A1	HP:0003677	Slowly progressive
1337	COX6A1	HP:0009830	Peripheral neuropathy
1337	COX6A1	HP:0009027	Foot dorsiflexor weakness
1337	COX6A1	HP:0011463	Childhood onset
1337	COX6A1	HP:0002936	Distal sensory impairment
1337	COX6A1	HP:0001761	Pes cavus
1339	COX6A2	HP:0001290	Generalized hypotonia
1339	COX6A2	HP:0001324	Muscle weakness
1339	COX6A2	HP:0000007	Autosomal recessive inheritance
1339	COX6A2	HP:0002643	Neonatal respiratory distress
1339	COX6A2	HP:0002151	Increased serum lactate
1339	COX6A2	HP:0003593	Infantile onset
1339	COX6A2	HP:0003577	Congenital onset
1339	COX6A2	HP:0003542	Increased serum pyruvate
1339	COX6A2	HP:0008347	Decreased activity of mitochondrial complex IV
1339	COX6A2	HP:0003688	Cytochrome C oxidase-negative muscle fibers
1339	COX6A2	HP:0012240	Increased intramyocellular lipid droplets
1339	COX6A2	HP:0000218	High palate
1339	COX6A2	HP:0030319	Weakness of facial musculature
1340	COX6B1	HP:0002490	Increased CSF lactate
1340	COX6B1	HP:0410175	Hyperketonemia
1340	COX6B1	HP:0002415	Leukodystrophy
1340	COX6B1	HP:0001290	Generalized hypotonia
1340	COX6B1	HP:0001268	Mental deterioration
1340	COX6B1	HP:0001324	Muscle weakness
1340	COX6B1	HP:0000007	Autosomal recessive inheritance
1340	COX6B1	HP:0003348	Hyperalaninemia
1340	COX6B1	HP:0003326	Myalgia
1340	COX6B1	HP:0002092	Pulmonary arterial hypertension
1340	COX6B1	HP:0002078	Truncal ataxia
1340	COX6B1	HP:0002070	Limb ataxia
1340	COX6B1	HP:0002151	Increased serum lactate
1340	COX6B1	HP:0002119	Ventriculomegaly
1340	COX6B1	HP:0100704	Cerebral visual impairment
1340	COX6B1	HP:0011968	Feeding difficulties
1340	COX6B1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
1340	COX6B1	HP:0001942	Metabolic acidosis
1340	COX6B1	HP:0001987	Hyperammonemia
1340	COX6B1	HP:0003128	Lactic acidosis
1340	COX6B1	HP:0001511	Intrauterine growth retardation
1340	COX6B1	HP:0005180	Tricuspid regurgitation
1340	COX6B1	HP:0001640	Cardiomegaly
1340	COX6B1	HP:0001639	Hypertrophic cardiomyopathy
1340	COX6B1	HP:0007965	Undetectable visual evoked potentials
1340	COX6B1	HP:0001714	Ventricular hypertrophy
1340	COX6B1	HP:0000572	Visual loss
1349	COX7B	HP:0009939	Mandibular aplasia
1349	COX7B	HP:0001274	Agenesis of corpus callosum
1349	COX7B	HP:0001250	Seizure
1349	COX7B	HP:0001249	Intellectual disability
1349	COX7B	HP:0001263	Global developmental delay
1349	COX7B	HP:0007398	Asymmetric, linear skin defects
1349	COX7B	HP:0008665	Clitoral hypertrophy
1349	COX7B	HP:0002553	Highly arched eyebrow
1349	COX7B	HP:0000062	Ambiguous genitalia
1349	COX7B	HP:0000041	Chordee
1349	COX7B	HP:0000037	Male pseudohermaphroditism
1349	COX7B	HP:0000036	Abnormal penis morphology
1349	COX7B	HP:0000039	Epispadias
1349	COX7B	HP:0000054	Micropenis
1349	COX7B	HP:0000047	Hypospadias
1349	COX7B	HP:0000035	Abnormal testis morphology
1349	COX7B	HP:0001331	Absent septum pellucidum
1349	COX7B	HP:0001328	Specific learning disability
1349	COX7B	HP:0000013	Hypoplasia of the uterus
1349	COX7B	HP:0002623	Overriding aorta
1349	COX7B	HP:0000175	Cleft palate
1349	COX7B	HP:0001423	X-linked dominant inheritance
1349	COX7B	HP:0002023	Anal atresia
1349	COX7B	HP:0002034	Abnormal rectum morphology
1349	COX7B	HP:0011800	Midface retrusion
1349	COX7B	HP:0002098	Respiratory distress
1349	COX7B	HP:0002094	Dyspnea
1349	COX7B	HP:0002092	Pulmonary arterial hypertension
1349	COX7B	HP:0002079	Hypoplasia of the corpus callosum
1349	COX7B	HP:0010448	Colonic atresia
1349	COX7B	HP:0011716	Junctional ectopic tachycardia
1349	COX7B	HP:0002133	Status epilepticus
1349	COX7B	HP:0010529	Echolalia
1349	COX7B	HP:0003577	Congenital onset
1349	COX7B	HP:0011968	Feeding difficulties
1349	COX7B	HP:0003510	Severe short stature
1349	COX7B	HP:0001057	Aplasia cutis congenita
1349	COX7B	HP:0001053	Hypopigmented skin patches
1349	COX7B	HP:0002381	Aphasia
1349	COX7B	HP:0001000	Abnormality of skin pigmentation
1349	COX7B	HP:0010783	Erythema
1349	COX7B	HP:0002300	Mutism
1349	COX7B	HP:0000646	Amblyopia
1349	COX7B	HP:0000647	Sclerocornea
1349	COX7B	HP:0000618	Blindness
1349	COX7B	HP:0000612	Iris coloboma
1349	COX7B	HP:0000614	Abnormal nasolacrimal system morphology
1349	COX7B	HP:0000627	Posterior embryotoxon
1349	COX7B	HP:0000682	Abnormal dental enamel morphology
1349	COX7B	HP:0000659	Peters anomaly
1349	COX7B	HP:0001999	Abnormal facial shape
1349	COX7B	HP:0004322	Short stature
1349	COX7B	HP:0004334	Dermal atrophy
1349	COX7B	HP:0004327	Abnormal vitreous humor morphology
1349	COX7B	HP:0004302	Functional motor deficit
1349	COX7B	HP:0004378	Abnormality of the anus
1349	COX7B	HP:0000776	Congenital diaphragmatic hernia
1349	COX7B	HP:0003196	Short nose
1349	COX7B	HP:0011531	Vitritis
1349	COX7B	HP:0012861	Ovotestis
1349	COX7B	HP:0000954	Single transverse palmar crease
1349	COX7B	HP:0000953	Hyperpigmentation of the skin
1349	COX7B	HP:0000951	Abnormality of the skin
1349	COX7B	HP:0000960	Sacral dimple
1349	COX7B	HP:0008065	Aplasia/Hypoplasia of the skin
1349	COX7B	HP:0011675	Arrhythmia
1349	COX7B	HP:0007703	Abnormality of retinal pigmentation
1349	COX7B	HP:0000278	Retrognathia
1349	COX7B	HP:0001597	Abnormality of the nail
1349	COX7B	HP:0007731	Chorioretinal dysplasia
1349	COX7B	HP:0000238	Hydrocephalus
1349	COX7B	HP:0000252	Microcephaly
1349	COX7B	HP:0002878	Respiratory failure
1349	COX7B	HP:0001545	Anteriorly placed anus
1349	COX7B	HP:0001508	Failure to thrive
1349	COX7B	HP:0030048	Colpocephaly
1349	COX7B	HP:0001510	Growth delay
1349	COX7B	HP:0011027	Abnormal fallopian tube morphology
1349	COX7B	HP:0005180	Tricuspid regurgitation
1349	COX7B	HP:0005152	Histiocytoid cardiomyopathy
1349	COX7B	HP:0000363	Abnormal earlobe morphology
1349	COX7B	HP:0000365	Hearing impairment
1349	COX7B	HP:0000358	Posteriorly rotated ears
1349	COX7B	HP:0011003	High myopia
1349	COX7B	HP:0001671	Abnormal cardiac septum morphology
1349	COX7B	HP:0000343	Long philtrum
1349	COX7B	HP:0000348	High forehead
1349	COX7B	HP:0000347	Micrognathia
1349	COX7B	HP:0000316	Hypertelorism
1349	COX7B	HP:0001644	Dilated cardiomyopathy
1349	COX7B	HP:0000331	Short chin
1349	COX7B	HP:0001653	Mitral regurgitation
1349	COX7B	HP:0001629	Ventricular septal defect
1349	COX7B	HP:0001639	Hypertrophic cardiomyopathy
1349	COX7B	HP:0001636	Tetralogy of Fallot
1349	COX7B	HP:0001631	Atrial septal defect
1349	COX7B	HP:0001634	Mitral valve prolapse
1349	COX7B	HP:0007957	Corneal opacity
1349	COX7B	HP:0006610	Wide intermamillary distance
1349	COX7B	HP:0000499	Abnormal eyelash morphology
1349	COX7B	HP:0007973	Retinal dysplasia
1349	COX7B	HP:0001704	Tricuspid valve prolapse
1349	COX7B	HP:0001714	Ventricular hypertrophy
1349	COX7B	HP:0000492	Abnormal eyelid morphology
1349	COX7B	HP:0012448	Delayed myelination
1349	COX7B	HP:0000445	Wide nose
1349	COX7B	HP:0000431	Wide nasal bridge
1349	COX7B	HP:0000518	Cataract
1349	COX7B	HP:0000528	Anophthalmia
1349	COX7B	HP:0001852	Sandal gap
1349	COX7B	HP:0000505	Visual impairment
1349	COX7B	HP:0000501	Glaucoma
1349	COX7B	HP:0011265	Cleft earlobe
1349	COX7B	HP:0000598	Abnormality of the ear
1349	COX7B	HP:0000580	Pigmentary retinopathy
1349	COX7B	HP:0000556	Retinal dystrophy
1349	COX7B	HP:0000572	Visual loss
1349	COX7B	HP:0000568	Microphthalmia
1349	COX7B	HP:0000543	Optic disc pallor
1349	COX7B	HP:0000545	Myopia
1351	COX8A	HP:0002490	Increased CSF lactate
1351	COX8A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
1351	COX8A	HP:0100806	Sepsis
1351	COX8A	HP:0001265	Hyporeflexia
1351	COX8A	HP:0001263	Global developmental delay
1351	COX8A	HP:0001257	Spasticity
1351	COX8A	HP:0000007	Autosomal recessive inheritance
1351	COX8A	HP:0002650	Scoliosis
1351	COX8A	HP:0003348	Hyperalaninemia
1351	COX8A	HP:0002092	Pulmonary arterial hypertension
1351	COX8A	HP:0002154	Hyperglycinemia
1351	COX8A	HP:0002151	Increased serum lactate
1351	COX8A	HP:0002119	Ventriculomegaly
1351	COX8A	HP:0010819	Atonic seizure
1351	COX8A	HP:0004322	Short stature
1351	COX8A	HP:0011470	Nasogastric tube feeding in infancy
1351	COX8A	HP:0011421	Death in adolescence
1351	COX8A	HP:0003128	Lactic acidosis
1351	COX8A	HP:0002827	Hip dislocation
1351	COX8A	HP:0000252	Microcephaly
1351	COX8A	HP:0032794	Myoclonic seizure
1351	COX8A	HP:0000490	Deeply set eye
1351	COX8A	HP:0012444	Brain atrophy
1351	COX8A	HP:0000580	Pigmentary retinopathy
1352	COX10	HP:0002490	Increased CSF lactate
1352	COX10	HP:0001290	Generalized hypotonia
1352	COX10	HP:0001251	Ataxia
1352	COX10	HP:0001348	Brisk reflexes
1352	COX10	HP:0008872	Feeding difficulties in infancy
1352	COX10	HP:0001324	Muscle weakness
1352	COX10	HP:0000007	Autosomal recessive inheritance
1352	COX10	HP:0003348	Hyperalaninemia
1352	COX10	HP:0002151	Increased serum lactate
1352	COX10	HP:0002133	Status epilepticus
1352	COX10	HP:0003593	Infantile onset
1352	COX10	HP:0003542	Increased serum pyruvate
1352	COX10	HP:0008358	Hyperprolinemia
1352	COX10	HP:0003688	Cytochrome C oxidase-negative muscle fibers
1352	COX10	HP:0003623	Neonatal onset
1352	COX10	HP:0000639	Nystagmus
1352	COX10	HP:0001972	Macrocytic anemia
1352	COX10	HP:0001942	Metabolic acidosis
1352	COX10	HP:0012692	Focal T2 hyperintense thalamic lesion
1352	COX10	HP:0001998	Neonatal hypoglycemia
1352	COX10	HP:0000713	Agitation
1352	COX10	HP:0003128	Lactic acidosis
1352	COX10	HP:0001522	Death in infancy
1352	COX10	HP:0001508	Failure to thrive
1352	COX10	HP:0001638	Cardiomyopathy
1352	COX10	HP:0032988	Persistent head lag
1352	COX10	HP:0000407	Sensorineural hearing impairment
1352	COX10	HP:0001744	Splenomegaly
1352	COX10	HP:0000508	Ptosis
1355	COX15	HP:0002490	Increased CSF lactate
1355	COX15	HP:0010864	Intellectual disability, severe
1355	COX15	HP:0002415	Leukodystrophy
1355	COX15	HP:0001298	Encephalopathy
1355	COX15	HP:0001250	Seizure
1355	COX15	HP:0001252	Hypotonia
1355	COX15	HP:0001260	Dysarthria
1355	COX15	HP:0001263	Global developmental delay
1355	COX15	HP:0001257	Spasticity
1355	COX15	HP:0001397	Hepatic steatosis
1355	COX15	HP:0001347	Hyperreflexia
1355	COX15	HP:0001332	Dystonia
1355	COX15	HP:0000007	Autosomal recessive inheritance
1355	COX15	HP:0008972	Decreased activity of mitochondrial respiratory chain
1355	COX15	HP:0011800	Midface retrusion
1355	COX15	HP:0002061	Lower limb spasticity
1355	COX15	HP:0002073	Progressive cerebellar ataxia
1355	COX15	HP:0002151	Increased serum lactate
1355	COX15	HP:0002104	Apnea
1355	COX15	HP:0002171	Gliosis
1355	COX15	HP:0003593	Infantile onset
1355	COX15	HP:0007020	Progressive spastic paraplegia
1355	COX15	HP:0011968	Feeding difficulties
1355	COX15	HP:0025085	Bloody diarrhea
1355	COX15	HP:0009830	Peripheral neuropathy
1355	COX15	HP:0007146	Bilateral basal ganglia lesions
1355	COX15	HP:0003623	Neonatal onset
1355	COX15	HP:0007183	Focal T2 hyperintense basal ganglia lesion
1355	COX15	HP:0000639	Nystagmus
1355	COX15	HP:0000648	Optic atrophy
1355	COX15	HP:0001941	Acidosis
1355	COX15	HP:0000602	Ophthalmoplegia
1355	COX15	HP:0001903	Anemia
1355	COX15	HP:0000666	Horizontal nystagmus
1355	COX15	HP:0100022	Abnormality of movement
1355	COX15	HP:0000712	Emotional lability
1355	COX15	HP:0003128	Lactic acidosis
1355	COX15	HP:0000998	Hypertrichosis
1355	COX15	HP:0033044	Motor regression
1355	COX15	HP:0000252	Microcephaly
1355	COX15	HP:0001558	Decreased fetal movement
1355	COX15	HP:0001508	Failure to thrive
1355	COX15	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
1355	COX15	HP:0000365	Hearing impairment
1355	COX15	HP:0001629	Ventricular septal defect
1355	COX15	HP:0001639	Hypertrophic cardiomyopathy
1355	COX15	HP:0001638	Cardiomyopathy
1355	COX15	HP:0000486	Strabismus
1355	COX15	HP:0000488	Retinopathy
1355	COX15	HP:0000508	Ptosis
1355	COX15	HP:0000580	Pigmentary retinopathy
1356	CP	HP:0001251	Ataxia
1356	CP	HP:0001260	Dysarthria
1356	CP	HP:0010994	Abnormal corpus striatum morphology
1356	CP	HP:0001395	Hepatic fibrosis
1356	CP	HP:0001394	Cirrhosis
1356	CP	HP:0012090	Abnormal pancreas morphology
1356	CP	HP:0001332	Dystonia
1356	CP	HP:0000007	Autosomal recessive inheritance
1356	CP	HP:0001337	Tremor
1356	CP	HP:0001300	Parkinsonism
1356	CP	HP:0025498	Aceruloplasminemia
1356	CP	HP:0012179	Craniofacial dystonia
1356	CP	HP:0040303	Decreased serum iron
1356	CP	HP:0100543	Cognitive impairment
1356	CP	HP:0002066	Gait ataxia
1356	CP	HP:0002063	Rigidity
1356	CP	HP:0002072	Chorea
1356	CP	HP:0002070	Limb ataxia
1356	CP	HP:0002071	Abnormality of extrapyramidal motor function
1356	CP	HP:0002168	Scanning speech
1356	CP	HP:0003581	Adult onset
1356	CP	HP:0011967	Decreased circulating copper concentration
1356	CP	HP:0004840	Hypochromic microcytic anemia
1356	CP	HP:0002396	Cogwheel rigidity
1356	CP	HP:0002354	Memory impairment
1356	CP	HP:0010837	Decreased circulating ceruloplasmin concentration
1356	CP	HP:0002304	Akinesia
1356	CP	HP:0005505	Refractory anemia
1356	CP	HP:0000639	Nystagmus
1356	CP	HP:0000643	Blepharospasm
1356	CP	HP:0000608	Macular degeneration
1356	CP	HP:0001903	Anemia
1356	CP	HP:0012696	Abnormal thalamic MRI signal intensity
1356	CP	HP:0012675	Iron accumulation in brain
1356	CP	HP:0004305	Involuntary movements
1356	CP	HP:0000741	Apathy
1356	CP	HP:0000726	Dementia
1356	CP	HP:0000707	Abnormality of the nervous system
1356	CP	HP:0100321	Abnormal dentate nucleus morphology
1356	CP	HP:0000819	Diabetes mellitus
1356	CP	HP:0003281	Increased circulating ferritin concentration
1356	CP	HP:0007703	Abnormality of retinal pigmentation
1356	CP	HP:0000273	Facial grimacing
1356	CP	HP:0012379	Abnormal circulating enzyme concentration or activity
1356	CP	HP:0001635	Congestive heart failure
1356	CP	HP:0012465	Elevated hepatic iron concentration
1356	CP	HP:0000473	Torticollis
1356	CP	HP:0000546	Retinal degeneration
1357	CPA1	HP:0002027	Abdominal pain
1357	CPA1	HP:0001974	Leukocytosis
1357	CPA1	HP:0100027	Recurrent pancreatitis
1357	CPA1	HP:0000819	Diabetes mellitus
1357	CPA1	HP:0000952	Jaundice
1357	CPA1	HP:0012379	Abnormal circulating enzyme concentration or activity
1357	CPA1	HP:0005213	Pancreatic calcification
1357	CPA1	HP:0030247	Splanchnic vein thrombosis
1357	CPA1	HP:0011227	Elevated circulating C-reactive protein concentration
1363	CPE	HP:0001270	Motor delay
1363	CPE	HP:0001249	Intellectual disability
1363	CPE	HP:0031098	Decreased thyroid-stimulating hormone level
1363	CPE	HP:0000044	Hypogonadotropic hypogonadism
1363	CPE	HP:0000054	Micropenis
1363	CPE	HP:0000028	Cryptorchidism
1363	CPE	HP:0000007	Autosomal recessive inheritance
1363	CPE	HP:0008947	Infantile muscular hypotonia
1363	CPE	HP:0005978	Type II diabetes mellitus
1363	CPE	HP:0011787	Central hypothyroidism
1363	CPE	HP:0000771	Gynecomastia
1363	CPE	HP:0000786	Primary amenorrhea
1363	CPE	HP:0000842	Hyperinsulinemia
1363	CPE	HP:0000823	Delayed puberty
1363	CPE	HP:0033078	Decreased circulating free T4 concentration
1363	CPE	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test
1363	CPE	HP:0040171	Decreased serum testosterone concentration
1363	CPE	HP:0000293	Full cheeks
1363	CPE	HP:0001513	Obesity
1363	CPE	HP:0000347	Micrognathia
1363	CPE	HP:0000311	Round face
1363	CPE	HP:0001631	Atrial septal defect
1363	CPE	HP:0000400	Macrotia
1363	CPE	HP:0030341	Decreased circulating follicle stimulating hormone concentration
1369	CPN1	HP:0000007	Autosomal recessive inheritance
1369	CPN1	HP:0001025	Urticaria
1369	CPN1	HP:0100665	Angioedema
1369	CPN1	HP:0003193	Allergic rhinitis
1371	CPOX	HP:0002460	Distal muscle weakness
1371	CPOX	HP:0009937	Facial hirsutism
1371	CPOX	HP:0001289	Confusion
1371	CPOX	HP:0001250	Seizure
1371	CPOX	HP:0002572	Episodic vomiting
1371	CPOX	HP:0033627	Increased urine harderoporphyrin level
1371	CPOX	HP:0003829	Typified by incomplete penetrance
1371	CPOX	HP:0000007	Autosomal recessive inheritance
1371	CPOX	HP:0000006	Autosomal dominant inheritance
1371	CPOX	HP:0008994	Proximal muscle weakness in lower limbs
1371	CPOX	HP:0008997	Proximal muscle weakness in upper limbs
1371	CPOX	HP:0000112	Nephropathy
1371	CPOX	HP:0001402	Hepatocellular carcinoma
1371	CPOX	HP:0002018	Nausea
1371	CPOX	HP:0002019	Constipation
1371	CPOX	HP:0002027	Abdominal pain
1371	CPOX	HP:0040319	Dark urine
1371	CPOX	HP:0040318	Red urine
1371	CPOX	HP:0002014	Diarrhea
1371	CPOX	HP:0002013	Vomiting
1371	CPOX	HP:0002093	Respiratory insufficiency
1371	CPOX	HP:0034472	Increased fecal harderoporphyrin
1371	CPOX	HP:0034471	Increased fecal coproporphyrin III:coproporphyrin I ratio
1371	CPOX	HP:0010473	Porphyrinuria
1371	CPOX	HP:0010472	Abnormal circulating porphyrin concentration
1371	CPOX	HP:0003489	Acute episodes of neuropathic symptoms
1371	CPOX	HP:0003418	Back pain
1371	CPOX	HP:0002240	Hepatomegaly
1371	CPOX	HP:0002203	Respiratory paralysis
1371	CPOX	HP:0100785	Insomnia
1371	CPOX	HP:0011999	Paranoia
1371	CPOX	HP:0001030	Fragile skin
1371	CPOX	HP:0008528	Long hairs growing from helix of pinna
1371	CPOX	HP:0009830	Peripheral neuropathy
1371	CPOX	HP:0009763	Limb pain
1371	CPOX	HP:0007178	Motor polyneuropathy
1371	CPOX	HP:0001945	Fever
1371	CPOX	HP:0001923	Reticulocytosis
1371	CPOX	HP:0001903	Anemia
1371	CPOX	HP:0000738	Hallucinations
1371	CPOX	HP:0000739	Anxiety
1371	CPOX	HP:0000716	Depression
1371	CPOX	HP:0000709	Psychosis
1371	CPOX	HP:0011462	Young adult onset
1371	CPOX	HP:0003163	Elevated urinary delta-aminolevulinic acid
1371	CPOX	HP:0012850	Small intestinal dysmotility
1371	CPOX	HP:0000822	Hypertension
1371	CPOX	HP:0003281	Increased circulating ferritin concentration
1371	CPOX	HP:0003265	Neonatal hyperbilirubinemia
1371	CPOX	HP:0000992	Cutaneous photosensitivity
1371	CPOX	HP:0000987	Atypical scarring of skin
1371	CPOX	HP:0033010	Increased fecal coproporphyrin 3
1371	CPOX	HP:0000953	Hyperpigmentation of the skin
1371	CPOX	HP:0000952	Jaundice
1371	CPOX	HP:0008066	Abnormal blistering of the skin
1371	CPOX	HP:0012217	Increased urinary porphobilinogen
1371	CPOX	HP:0006579	Prolonged neonatal jaundice
1371	CPOX	HP:0002902	Hyponatremia
1371	CPOX	HP:0001649	Tachycardia
1371	CPOX	HP:0005325	Extension of hair growth on temples to lateral eyebrow
1371	CPOX	HP:0011121	Abnormality of skin morphology
1371	CPOX	HP:0001744	Splenomegaly
1371	CPOX	HP:0001878	Hemolytic anemia
1373	CPS1	HP:0001297	Stroke
1373	CPS1	HP:0001254	Lethargy
1373	CPS1	HP:0001250	Seizure
1373	CPS1	HP:0001252	Hypotonia
1373	CPS1	HP:0001251	Ataxia
1373	CPS1	HP:0001249	Intellectual disability
1373	CPS1	HP:0001263	Global developmental delay
1373	CPS1	HP:0001259	Coma
1373	CPS1	HP:0000007	Autosomal recessive inheritance
1373	CPS1	HP:0003355	Aminoaciduria
1373	CPS1	HP:0002013	Vomiting
1373	CPS1	HP:0005961	Hypoargininemia
1373	CPS1	HP:0002093	Respiratory insufficiency
1373	CPS1	HP:0002038	Protein avoidance
1373	CPS1	HP:0002181	Cerebral edema
1373	CPS1	HP:0003572	Low plasma citrulline
1373	CPS1	HP:0003623	Neonatal onset
1373	CPS1	HP:0001951	Episodic ammonia intoxication
1373	CPS1	HP:0001950	Respiratory alkalosis
1373	CPS1	HP:0001987	Hyperammonemia
1373	CPS1	HP:0000737	Irritability
1373	CPS1	HP:0001508	Failure to thrive
1374	CPT1A	HP:0001290	Generalized hypotonia
1374	CPT1A	HP:0001270	Motor delay
1374	CPT1A	HP:0001254	Lethargy
1374	CPT1A	HP:0001250	Seizure
1374	CPT1A	HP:0001252	Hypotonia
1374	CPT1A	HP:0001265	Hyporeflexia
1374	CPT1A	HP:0001259	Coma
1374	CPT1A	HP:0007335	Recurrent encephalopathy
1374	CPT1A	HP:0001397	Hepatic steatosis
1374	CPT1A	HP:0001399	Hepatic failure
1374	CPT1A	HP:0002686	Prenatal maternal abnormality
1374	CPT1A	HP:0001324	Muscle weakness
1374	CPT1A	HP:0000007	Autosomal recessive inheritance
1374	CPT1A	HP:0001315	Reduced tendon reflexes
1374	CPT1A	HP:0002014	Diarrhea
1374	CPT1A	HP:0002167	Abnormality of speech or vocalization
1374	CPT1A	HP:0008279	Transient hyperlipidemia
1374	CPT1A	HP:0002240	Hepatomegaly
1374	CPT1A	HP:0011968	Feeding difficulties
1374	CPT1A	HP:0007185	Loss of consciousness
1374	CPT1A	HP:0001947	Renal tubular acidosis
1374	CPT1A	HP:0001943	Hypoglycemia
1374	CPT1A	HP:0001939	Abnormality of metabolism/homeostasis
1374	CPT1A	HP:0001987	Hyperammonemia
1374	CPT1A	HP:0001985	Hypoketotic hypoglycemia
1374	CPT1A	HP:0031956	Elevated circulating aspartate aminotransferase concentration
1374	CPT1A	HP:0031964	Elevated circulating alanine aminotransferase concentration
1374	CPT1A	HP:0004374	Hemiplegia/hemiparesis
1374	CPT1A	HP:0000708	Atypical behavior
1374	CPT1A	HP:0011463	Childhood onset
1374	CPT1A	HP:0003236	Elevated circulating creatine kinase concentration
1374	CPT1A	HP:0003215	Dicarboxylic aciduria
1374	CPT1A	HP:0003202	Skeletal muscle atrophy
1374	CPT1A	HP:0011675	Arrhythmia
1374	CPT1A	HP:0012378	Fatigue
1374	CPT1A	HP:0002919	Ketonuria
1374	CPT1A	HP:0002910	Elevated hepatic transaminase
1374	CPT1A	HP:0001645	Sudden cardiac death
1374	CPT1A	HP:0001640	Cardiomegaly
1374	CPT1A	HP:0001639	Hypertrophic cardiomyopathy
1376	CPT2	HP:0001182	Tapered finger
1376	CPT2	HP:0003774	Stage 5 chronic kidney disease
1376	CPT2	HP:0007229	Intracerebral periventricular calcifications
1376	CPT2	HP:0003738	Exercise-induced myalgia
1376	CPT2	HP:0003710	Exercise-induced muscle cramps
1376	CPT2	HP:0001298	Encephalopathy
1376	CPT2	HP:0001290	Generalized hypotonia
1376	CPT2	HP:0100807	Long fingers
1376	CPT2	HP:0001274	Agenesis of corpus callosum
1376	CPT2	HP:0001254	Lethargy
1376	CPT2	HP:0001250	Seizure
1376	CPT2	HP:0001252	Hypotonia
1376	CPT2	HP:0001259	Coma
1376	CPT2	HP:0002574	Episodic abdominal pain
1376	CPT2	HP:0008682	Renal tubular epithelial necrosis
1376	CPT2	HP:0002514	Cerebral calcification
1376	CPT2	HP:0000083	Renal insufficiency
1376	CPT2	HP:0001397	Hepatic steatosis
1376	CPT2	HP:0001399	Hepatic failure
1376	CPT2	HP:0000073	Ureteral duplication
1376	CPT2	HP:0008872	Feeding difficulties in infancy
1376	CPT2	HP:0001324	Muscle weakness
1376	CPT2	HP:0000007	Autosomal recessive inheritance
1376	CPT2	HP:0000006	Autosomal dominant inheritance
1376	CPT2	HP:0001305	Dandy-Walker malformation
1376	CPT2	HP:0001302	Pachygyria
1376	CPT2	HP:0001320	Cerebellar vermis hypoplasia
1376	CPT2	HP:0001319	Neonatal hypotonia
1376	CPT2	HP:0002643	Neonatal respiratory distress
1376	CPT2	HP:0000189	Narrow palate
1376	CPT2	HP:0025435	Increased circulating lactate dehydrogenase concentration
1376	CPT2	HP:0002705	High, narrow palate
1376	CPT2	HP:0000113	Polycystic kidney dysplasia
1376	CPT2	HP:0000126	Hydronephrosis
1376	CPT2	HP:0000110	Renal dysplasia
1376	CPT2	HP:0000105	Enlarged kidney
1376	CPT2	HP:0001403	Macrovesicular hepatic steatosis
1376	CPT2	HP:0003326	Myalgia
1376	CPT2	HP:0002014	Diarrhea
1376	CPT2	HP:0002013	Vomiting
1376	CPT2	HP:0040320	Red-brown urine
1376	CPT2	HP:0005943	Respiratory arrest
1376	CPT2	HP:0002093	Respiratory insufficiency
1376	CPT2	HP:0003394	Muscle spasm
1376	CPT2	HP:0003455	Elevated circulating long chain fatty acid concentration
1376	CPT2	HP:0002119	Ventriculomegaly
1376	CPT2	HP:0003449	Cold-induced muscle cramps
1376	CPT2	HP:0002134	Abnormal basal ganglia morphology
1376	CPT2	HP:0002126	Polymicrogyria
1376	CPT2	HP:0004756	Ventricular tachycardia
1376	CPT2	HP:0002104	Apnea
1376	CPT2	HP:0011936	Decreased plasma total carnitine
1376	CPT2	HP:0002181	Cerebral edema
1376	CPT2	HP:0010511	Long toe
1376	CPT2	HP:0008293	Long-chain dicarboxylic aciduria
1376	CPT2	HP:0003593	Infantile onset
1376	CPT2	HP:0002269	Abnormality of neuronal migration
1376	CPT2	HP:0003573	Increased total bilirubin
1376	CPT2	HP:0002240	Hepatomegaly
1376	CPT2	HP:0003552	Muscle stiffness
1376	CPT2	HP:0003546	Exercise intolerance
1376	CPT2	HP:0007023	Antenatal intracerebral hemorrhage
1376	CPT2	HP:0011968	Feeding difficulties
1376	CPT2	HP:0011964	Intermittent painful muscle spasms
1376	CPT2	HP:0032066	Decreased serum bicarbonate concentration
1376	CPT2	HP:0008315	Decreased plasma free carnitine
1376	CPT2	HP:0002315	Headache
1376	CPT2	HP:0001970	Tubulointerstitial nephritis
1376	CPT2	HP:0001943	Hypoglycemia
1376	CPT2	HP:0001945	Fever
1376	CPT2	HP:0001942	Metabolic acidosis
1376	CPT2	HP:0001958	Nonketotic hypoglycemia
1376	CPT2	HP:0009058	Increased muscle lipid content
1376	CPT2	HP:0001987	Hyperammonemia
1376	CPT2	HP:0001985	Hypoketotic hypoglycemia
1376	CPT2	HP:0011309	Tapered toe
1376	CPT2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
1376	CPT2	HP:0031964	Elevated circulating alanine aminotransferase concentration
1376	CPT2	HP:0006929	Hypoglycemic encephalopathy
1376	CPT2	HP:0003077	Hyperlipidemia
1376	CPT2	HP:0000800	Cystic renal dysplasia
1376	CPT2	HP:0012722	Heart block
1376	CPT2	HP:0011463	Childhood onset
1376	CPT2	HP:0011462	Young adult onset
1376	CPT2	HP:0011461	Fetal onset
1376	CPT2	HP:0003198	Myopathy
1376	CPT2	HP:0003236	Elevated circulating creatine kinase concentration
1376	CPT2	HP:0003215	Dicarboxylic aciduria
1376	CPT2	HP:0003201	Rhabdomyolysis
1376	CPT2	HP:0045045	Elevated circulating acylcarnitine concentration
1376	CPT2	HP:0003259	Elevated circulating creatinine concentration
1376	CPT2	HP:0100295	Muscle fiber atrophy
1376	CPT2	HP:0011675	Arrhythmia
1376	CPT2	HP:0006380	Knee flexion contracture
1376	CPT2	HP:0000238	Hydrocephalus
1376	CPT2	HP:0000252	Microcephaly
1376	CPT2	HP:0002878	Respiratory failure
1376	CPT2	HP:0000218	High palate
1376	CPT2	HP:0001562	Oligohydramnios
1376	CPT2	HP:0001522	Death in infancy
1376	CPT2	HP:0012380	Reduced carnitine O-palmitoyltransferase level
1376	CPT2	HP:0000396	Overfolded helix
1376	CPT2	HP:0006559	Hepatic calcification
1376	CPT2	HP:0006561	Lipid accumulation in hepatocytes
1376	CPT2	HP:0002913	Myoglobinuria
1376	CPT2	HP:0002910	Elevated hepatic transaminase
1376	CPT2	HP:0000358	Posteriorly rotated ears
1376	CPT2	HP:0000369	Low-set ears
1376	CPT2	HP:0000340	Sloping forehead
1376	CPT2	HP:0000348	High forehead
1376	CPT2	HP:0001644	Dilated cardiomyopathy
1376	CPT2	HP:0002987	Elbow flexion contracture
1376	CPT2	HP:0001640	Cardiomegaly
1376	CPT2	HP:0001638	Cardiomyopathy
1376	CPT2	HP:0001637	Abnormal myocardium morphology
1376	CPT2	HP:0006610	Wide intermamillary distance
1376	CPT2	HP:0001714	Ventricular hypertrophy
1376	CPT2	HP:0012443	Abnormality of brain morphology
1376	CPT2	HP:0000414	Bulbous nose
1376	CPT2	HP:0001742	Nasal congestion
1376	CPT2	HP:0001760	Abnormal foot morphology
1376	CPT2	HP:0006799	Basal ganglia cysts
1376	CPT2	HP:0000518	Cataract
1376	CPT2	HP:0001800	Hypoplastic toenails
1376	CPT2	HP:0011220	Prominent forehead
1380	CR2	HP:0001287	Meningitis
1380	CR2	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine
1380	CR2	HP:0001392	Abnormality of the liver
1380	CR2	HP:0002664	Neoplasm
1380	CR2	HP:0000010	Recurrent urinary tract infections
1380	CR2	HP:0000007	Autosomal recessive inheritance
1380	CR2	HP:0002665	Lymphoma
1380	CR2	HP:0000006	Autosomal dominant inheritance
1380	CR2	HP:0002633	Vasculitis
1380	CR2	HP:0002719	Recurrent infections
1380	CR2	HP:0002718	Recurrent bacterial infections
1380	CR2	HP:0002716	Lymphadenopathy
1380	CR2	HP:0002729	Follicular hyperplasia
1380	CR2	HP:0002720	Decreased circulating IgA level
1380	CR2	HP:0002721	Immunodeficiency
1380	CR2	HP:0002023	Anal atresia
1380	CR2	HP:0002028	Chronic diarrhea
1380	CR2	HP:0003326	Myalgia
1380	CR2	HP:0002014	Diarrhea
1380	CR2	HP:0002097	Emphysema
1380	CR2	HP:0002090	Pneumonia
1380	CR2	HP:0002091	Restrictive ventilatory defect
1380	CR2	HP:0002110	Bronchiectasis
1380	CR2	HP:0011839	Abnormal T cell count
1380	CR2	HP:0002240	Hepatomegaly
1380	CR2	HP:0002205	Recurrent respiratory infections
1380	CR2	HP:0100723	Gastrointestinal stroma tumor
1380	CR2	HP:0032132	Decreased circulating total IgG
1380	CR2	HP:0032139	Reduced isohemagglutinin level
1380	CR2	HP:0001973	Autoimmune thrombocytopenia
1380	CR2	HP:0001945	Fever
1380	CR2	HP:0004315	Decreased circulating IgG level
1380	CR2	HP:0004313	Decreased circulating antibody level
1380	CR2	HP:0033050	Pharyngalgia
1380	CR2	HP:0000979	Purpura
1380	CR2	HP:0002829	Arthralgia
1380	CR2	HP:0000248	Brachycephaly
1380	CR2	HP:0001531	Failure to thrive in infancy
1380	CR2	HP:0002837	Recurrent bronchitis
1380	CR2	HP:0002850	Decreased circulating total IgM
1380	CR2	HP:0000389	Chronic otitis media
1380	CR2	HP:0000388	Otitis media
1380	CR2	HP:0006532	Recurrent pneumonia
1380	CR2	HP:0002910	Elevated hepatic transaminase
1380	CR2	HP:0002960	Autoimmunity
1380	CR2	HP:0005387	Combined immunodeficiency
1380	CR2	HP:0000403	Recurrent otitis media
1380	CR2	HP:0012476	Decreased specific pneumococcal antibody level
1380	CR2	HP:0011108	Recurrent sinusitis
1380	CR2	HP:0001744	Splenomegaly
1380	CR2	HP:0006783	Posterior pharyngeal cleft
1380	CR2	HP:0005435	Impaired T cell function
1380	CR2	HP:0041070	Chronic partially decreased circulating IgG1
1380	CR2	HP:0000509	Conjunctivitis
1380	CR2	HP:0001888	Lymphopenia
1380	CR2	HP:0041059	Chronic (near) absent circulating IgG4
1380	CR2	HP:0001878	Hemolytic anemia
1384	CRAT	HP:0001272	Cerebellar atrophy
1384	CRAT	HP:0001270	Motor delay
1384	CRAT	HP:0001252	Hypotonia
1384	CRAT	HP:0001251	Ataxia
1384	CRAT	HP:0002505	Loss of ambulation
1384	CRAT	HP:0001347	Hyperreflexia
1384	CRAT	HP:0000007	Autosomal recessive inheritance
1384	CRAT	HP:0001337	Tremor
1384	CRAT	HP:0001310	Dysmetria
1384	CRAT	HP:0002151	Increased serum lactate
1384	CRAT	HP:0003676	Progressive
1384	CRAT	HP:0002317	Unsteady gait
1384	CRAT	HP:0012675	Iron accumulation in brain
1384	CRAT	HP:0000763	Sensory neuropathy
1384	CRAT	HP:0000750	Delayed speech and language development
1384	CRAT	HP:0011463	Childhood onset
1385	CREB1	HP:0001428	Somatic mutation
1385	CREB1	HP:0012315	Histiocytoma
1387	CREBBP	HP:0001181	Adducted thumb
1387	CREBBP	HP:0001159	Syndactyly
1387	CREBBP	HP:0001128	Trichiasis
1387	CREBBP	HP:0020206	Simple ear
1387	CREBBP	HP:0002414	Spina bifida
1387	CREBBP	HP:0003745	Sporadic
1387	CREBBP	HP:0025269	Panic attack
1387	CREBBP	HP:0001274	Agenesis of corpus callosum
1387	CREBBP	HP:0001273	Abnormal corpus callosum morphology
1387	CREBBP	HP:0001250	Seizure
1387	CREBBP	HP:0001252	Hypotonia
1387	CREBBP	HP:0001249	Intellectual disability
1387	CREBBP	HP:0001263	Global developmental delay
1387	CREBBP	HP:0002566	Intestinal malrotation
1387	CREBBP	HP:0008752	Laryngeal cartilage malformation
1387	CREBBP	HP:0410263	Brain imaging abnormality
1387	CREBBP	HP:0100852	Abnormal fear/anxiety-related behavior
1387	CREBBP	HP:0008689	Bilateral cryptorchidism
1387	CREBBP	HP:0001212	Prominent fingertip pads
1387	CREBBP	HP:0002553	Highly arched eyebrow
1387	CREBBP	HP:0000077	Abnormality of the kidney
1387	CREBBP	HP:0000076	Vesicoureteral reflux
1387	CREBBP	HP:0000079	Abnormality of the urinary system
1387	CREBBP	HP:0001371	Flexion contracture
1387	CREBBP	HP:0001385	Hip dysplasia
1387	CREBBP	HP:0001388	Joint laxity
1387	CREBBP	HP:0001382	Joint hypermobility
1387	CREBBP	HP:0000047	Hypospadias
1387	CREBBP	HP:0000049	Shawl scrotum
1387	CREBBP	HP:0000023	Inguinal hernia
1387	CREBBP	HP:0001347	Hyperreflexia
1387	CREBBP	HP:0002697	Parietal foramina
1387	CREBBP	HP:0000034	Hydrocele testis
1387	CREBBP	HP:0000028	Cryptorchidism
1387	CREBBP	HP:0008897	Postnatal growth retardation
1387	CREBBP	HP:0008872	Feeding difficulties in infancy
1387	CREBBP	HP:0006200	Widened distal phalanges
1387	CREBBP	HP:0002664	Neoplasm
1387	CREBBP	HP:0000010	Recurrent urinary tract infections
1387	CREBBP	HP:0001344	Absent speech
1387	CREBBP	HP:0000006	Autosomal dominant inheritance
1387	CREBBP	HP:0002650	Scoliosis
1387	CREBBP	HP:0000189	Narrow palate
1387	CREBBP	HP:0000160	Narrow mouth
1387	CREBBP	HP:0000175	Cleft palate
1387	CREBBP	HP:0006349	Agenesis of permanent teeth
1387	CREBBP	HP:0002705	High, narrow palate
1387	CREBBP	HP:0002700	Large foramen magnum
1387	CREBBP	HP:0006297	Enamel hypoplasia
1387	CREBBP	HP:0000119	Abnormality of the genitourinary system
1387	CREBBP	HP:0002788	Recurrent upper respiratory tract infections
1387	CREBBP	HP:0000126	Hydronephrosis
1387	CREBBP	HP:0031207	Hepatic hemangioma
1387	CREBBP	HP:0002750	Delayed skeletal maturation
1387	CREBBP	HP:0031251	Abnormal subclavian artery morphology
1387	CREBBP	HP:0002020	Gastroesophageal reflux
1387	CREBBP	HP:0002019	Constipation
1387	CREBBP	HP:0002002	Deep philtrum
1387	CREBBP	HP:0002000	Short columella
1387	CREBBP	HP:0002007	Frontal bossing
1387	CREBBP	HP:0003319	Abnormality of the cervical spine
1387	CREBBP	HP:0002098	Respiratory distress
1387	CREBBP	HP:0002099	Asthma
1387	CREBBP	HP:0002090	Pneumonia
1387	CREBBP	HP:0003396	Syringomyelia
1387	CREBBP	HP:0010442	Polydactyly
1387	CREBBP	HP:0008107	Plantar crease between first and second toes
1387	CREBBP	HP:0002144	Tethered cord
1387	CREBBP	HP:0002183	Phonophobia
1387	CREBBP	HP:0002162	Low posterior hairline
1387	CREBBP	HP:0010562	Keloids
1387	CREBBP	HP:0003593	Infantile onset
1387	CREBBP	HP:0003577	Congenital onset
1387	CREBBP	HP:0002236	Frontal upsweep of hair
1387	CREBBP	HP:0100710	Impulsivity
1387	CREBBP	HP:0100716	Self-injurious behavior
1387	CREBBP	HP:0002219	Facial hypertrichosis
1387	CREBBP	HP:0002205	Recurrent respiratory infections
1387	CREBBP	HP:0009715	Papillary cystadenoma of the epididymis
1387	CREBBP	HP:0010674	Abnormality of the curvature of the vertebral column
1387	CREBBP	HP:0011968	Feeding difficulties
1387	CREBBP	HP:0010621	Cutaneous syndactyly of toes
1387	CREBBP	HP:0011947	Respiratory tract infection
1387	CREBBP	HP:0007099	Chiari type I malformation
1387	CREBBP	HP:0007086	Social and occupational deterioration
1387	CREBBP	HP:0001042	High axial triradius
1387	CREBBP	HP:0002370	Poor coordination
1387	CREBBP	HP:0002341	Cervical cord compression
1387	CREBBP	HP:0001007	Hirsutism
1387	CREBBP	HP:0002353	EEG abnormality
1387	CREBBP	HP:0002317	Unsteady gait
1387	CREBBP	HP:0009834	Abnormal proximal phalanx morphology of the hand
1387	CREBBP	HP:0009836	Broad distal phalanx of finger
1387	CREBBP	HP:0010803	Everted upper lip vermilion
1387	CREBBP	HP:0010775	Vascular ring
1387	CREBBP	HP:0009778	Short thumb
1387	CREBBP	HP:0009765	Low hanging columella
1387	CREBBP	HP:0002311	Incoordination
1387	CREBBP	HP:0002308	Chiari malformation
1387	CREBBP	HP:0004209	Clinodactyly of the 5th finger
1387	CREBBP	HP:0010059	Broad hallux phalanx
1387	CREBBP	HP:0010066	Duplication of phalanx of hallux
1387	CREBBP	HP:0000639	Nystagmus
1387	CREBBP	HP:0000618	Blindness
1387	CREBBP	HP:0001956	Truncal obesity
1387	CREBBP	HP:0001909	Leukemia
1387	CREBBP	HP:0010051	Deviation of the hallux
1387	CREBBP	HP:0010055	Broad hallux
1387	CREBBP	HP:0011335	Frontal hirsutism
1387	CREBBP	HP:0000678	Dental crowding
1387	CREBBP	HP:0000695	Natal tooth
1387	CREBBP	HP:0000689	Dental malocclusion
1387	CREBBP	HP:0000670	Carious teeth
1387	CREBBP	HP:0011304	Broad thumb
1387	CREBBP	HP:0000668	Hypodontia
1387	CREBBP	HP:0001999	Abnormal facial shape
1387	CREBBP	HP:0004322	Short stature
1387	CREBBP	HP:0030680	Abnormality of cardiovascular system morphology
1387	CREBBP	HP:0003083	Dislocated radial head
1387	CREBBP	HP:0004383	Hypoplastic left heart
1387	CREBBP	HP:0031936	Delayed ability to walk
1387	CREBBP	HP:0400005	Short ear
1387	CREBBP	HP:0012745	Short palpebral fissure
1387	CREBBP	HP:0000756	Agoraphobia
1387	CREBBP	HP:0000752	Hyperactivity
1387	CREBBP	HP:0000767	Pectus excavatum
1387	CREBBP	HP:0000733	Abnormal repetitive mannerisms
1387	CREBBP	HP:0000736	Short attention span
1387	CREBBP	HP:0000735	Impaired social interactions
1387	CREBBP	HP:0000750	Delayed speech and language development
1387	CREBBP	HP:0000742	Self-mutilation
1387	CREBBP	HP:0000718	Aggressive behavior
1387	CREBBP	HP:0000717	Autism
1387	CREBBP	HP:0000712	Emotional lability
1387	CREBBP	HP:0000729	Autistic behavior
1387	CREBBP	HP:0000722	Compulsive behaviors
1387	CREBBP	HP:0000708	Atypical behavior
1387	CREBBP	HP:0011470	Nasogastric tube feeding in infancy
1387	CREBBP	HP:0012758	Neurodevelopmental delay
1387	CREBBP	HP:0000787	Nephrolithiasis
1387	CREBBP	HP:0005743	Avascular necrosis of the capital femoral epiphysis
1387	CREBBP	HP:0004411	Deviated nasal septum
1387	CREBBP	HP:0003196	Short nose
1387	CREBBP	HP:0034227	Aortic isthmus hypoplasia
1387	CREBBP	HP:0005895	Radial deviation of thumb terminal phalanx
1387	CREBBP	HP:0030890	Hyperintensity of cerebral white matter on MRI
1387	CREBBP	HP:0003298	Spina bifida occulta
1387	CREBBP	HP:0010314	Premature thelarche
1387	CREBBP	HP:0010302	Spinal cord tumor
1387	CREBBP	HP:0000957	Cafe-au-lait spot
1387	CREBBP	HP:0000954	Single transverse palmar crease
1387	CREBBP	HP:0000932	Abnormal posterior cranial fossa morphology
1387	CREBBP	HP:0008070	Sparse hair
1387	CREBBP	HP:0011682	Perimembranous ventricular septal defect
1387	CREBBP	HP:0000286	Epicanthus
1387	CREBBP	HP:0000278	Retrognathia
1387	CREBBP	HP:0000293	Full cheeks
1387	CREBBP	HP:0000294	Low anterior hairline
1387	CREBBP	HP:0000260	Wide anterior fontanel
1387	CREBBP	HP:0000270	Delayed cranial suture closure
1387	CREBBP	HP:0000273	Facial grimacing
1387	CREBBP	HP:0000252	Microcephaly
1387	CREBBP	HP:0000219	Thin upper lip vermilion
1387	CREBBP	HP:0000218	High palate
1387	CREBBP	HP:0001561	Polyhydramnios
1387	CREBBP	HP:0002858	Meningioma
1387	CREBBP	HP:0002870	Obstructive sleep apnea
1387	CREBBP	HP:0002869	Flared iliac wing
1387	CREBBP	HP:0001537	Umbilical hernia
1387	CREBBP	HP:0002866	Hypoplastic iliac wing
1387	CREBBP	HP:0001508	Failure to thrive
1387	CREBBP	HP:0002835	Aspiration
1387	CREBBP	HP:0030047	Abnormal lateral ventricle morphology
1387	CREBBP	HP:0001518	Small for gestational age
1387	CREBBP	HP:0001511	Intrauterine growth retardation
1387	CREBBP	HP:0001510	Growth delay
1387	CREBBP	HP:0001513	Obesity
1387	CREBBP	HP:0011087	Talon cusp
1387	CREBBP	HP:0011069	Supernumerary tooth
1387	CREBBP	HP:0000387	Absent earlobe
1387	CREBBP	HP:0012368	Flat face
1387	CREBBP	HP:0000396	Overfolded helix
1387	CREBBP	HP:0000388	Otitis media
1387	CREBBP	HP:0001601	Laryngomalacia
1387	CREBBP	HP:0000365	Hearing impairment
1387	CREBBP	HP:0000369	Low-set ears
1387	CREBBP	HP:0000343	Long philtrum
1387	CREBBP	HP:0002999	Patellar dislocation
1387	CREBBP	HP:0001680	Coarctation of aorta
1387	CREBBP	HP:0000347	Micrognathia
1387	CREBBP	HP:0001650	Aortic valve stenosis
1387	CREBBP	HP:0000321	Square face
1387	CREBBP	HP:0000319	Smooth philtrum
1387	CREBBP	HP:0001647	Bicuspid aortic valve
1387	CREBBP	HP:0000316	Hypertelorism
1387	CREBBP	HP:0001643	Patent ductus arteriosus
1387	CREBBP	HP:0001642	Pulmonic stenosis
1387	CREBBP	HP:0000327	Hypoplasia of the maxilla
1387	CREBBP	HP:0000322	Short philtrum
1387	CREBBP	HP:0001655	Patent foramen ovale
1387	CREBBP	HP:0001629	Ventricular septal defect
1387	CREBBP	HP:0001627	Abnormal heart morphology
1387	CREBBP	HP:0001631	Atrial septal defect
1387	CREBBP	HP:0001634	Mitral valve prolapse
1387	CREBBP	HP:0005301	Persistent left superior vena cava
1387	CREBBP	HP:0005374	Cellular immunodeficiency
1387	CREBBP	HP:0005363	Humoral immunodeficiency
1387	CREBBP	HP:0005306	Capillary hemangioma
1387	CREBBP	HP:0005322	Prominent nasal septum
1387	CREBBP	HP:0000407	Sensorineural hearing impairment
1387	CREBBP	HP:0000405	Conductive hearing impairment
1387	CREBBP	HP:0005280	Depressed nasal bridge
1387	CREBBP	HP:0000486	Strabismus
1387	CREBBP	HP:0031546	Cardiac conduction abnormality
1387	CREBBP	HP:0000478	Abnormality of the eye
1387	CREBBP	HP:0000494	Downslanted palpebral fissures
1387	CREBBP	HP:0000490	Deeply set eye
1387	CREBBP	HP:0000488	Retinopathy
1387	CREBBP	HP:0000463	Anteverted nares
1387	CREBBP	HP:0012448	Delayed myelination
1387	CREBBP	HP:0012450	Chronic constipation
1387	CREBBP	HP:0000457	Depressed nasal ridge
1387	CREBBP	HP:0001763	Pes planus
1387	CREBBP	HP:0000448	Prominent nose
1387	CREBBP	HP:0000444	Convex nasal ridge
1387	CREBBP	HP:0000446	Narrow nasal bridge
1387	CREBBP	HP:0001747	Accessory spleen
1387	CREBBP	HP:0000411	Protruding ear
1387	CREBBP	HP:0001762	Talipes equinovarus
1387	CREBBP	HP:0000431	Wide nasal bridge
1387	CREBBP	HP:0000430	Underdeveloped nasal alae
1387	CREBBP	HP:0030434	Pilomatrixoma
1387	CREBBP	HP:0005484	Secondary microcephaly
1387	CREBBP	HP:0000518	Cataract
1387	CREBBP	HP:0001845	Overlapping toe
1387	CREBBP	HP:0000527	Long eyelashes
1387	CREBBP	HP:0001852	Sandal gap
1387	CREBBP	HP:0000520	Proptosis
1387	CREBBP	HP:0000506	Telecanthus
1387	CREBBP	HP:0000508	Ptosis
1387	CREBBP	HP:0000501	Glaucoma
1387	CREBBP	HP:0000582	Upslanted palpebral fissure
1387	CREBBP	HP:0000581	Blepharophimosis
1387	CREBBP	HP:0011238	Prominent inferior crus of antihelix
1387	CREBBP	HP:0000579	Nasolacrimal duct obstruction
1387	CREBBP	HP:0011229	Broad eyebrow
1387	CREBBP	HP:0000589	Coloboma
1387	CREBBP	HP:0011220	Prominent forehead
1387	CREBBP	HP:0000559	Corneal scarring
1387	CREBBP	HP:0000574	Thick eyebrow
1387	CREBBP	HP:0000540	Hypermetropia
1387	CREBBP	HP:0000539	Abnormality of refraction
1392	CRH	HP:0025237	Confusional arousal
1392	CRH	HP:0025236	Somnambulism
1392	CRH	HP:0025235	Non-rapid eye movement parasomnia
1392	CRH	HP:0001256	Intellectual disability, mild
1392	CRH	HP:0000020	Urinary incontinence
1392	CRH	HP:0001345	Psychotic mentation
1392	CRH	HP:0100543	Cognitive impairment
1392	CRH	HP:0002069	Bilateral tonic-clonic seizure
1392	CRH	HP:0002268	Paroxysmal dystonia
1392	CRH	HP:0007018	Attention deficit hyperactivity disorder
1392	CRH	HP:0031951	Nocturnal seizures
1392	CRH	HP:0004305	Involuntary movements
1392	CRH	HP:0000739	Anxiety
1392	CRH	HP:0000733	Abnormal repetitive mannerisms
1392	CRH	HP:0000716	Depression
1392	CRH	HP:0000708	Atypical behavior
1392	CRH	HP:0002883	Hyperventilation
1392	CRH	HP:0031535	Increased theta frequency activity in EEG
1392	CRH	HP:0011193	EEG with focal spikes
1392	CRH	HP:0011182	Interictal epileptiform activity
1392	CRH	HP:0011174	Focal hyperkinetic seizure
1392	CRH	HP:0031589	Suicidal ideation
1399	CRKL	HP:0001166	Arachnodactyly
1399	CRKL	HP:0002463	Language impairment
1399	CRKL	HP:0009882	Short distal phalanx of finger
1399	CRKL	HP:0001250	Seizure
1399	CRKL	HP:0001249	Intellectual disability
1399	CRKL	HP:0001263	Global developmental delay
1399	CRKL	HP:0002553	Highly arched eyebrow
1399	CRKL	HP:0000023	Inguinal hernia
1399	CRKL	HP:0002664	Neoplasm
1399	CRKL	HP:0000010	Recurrent urinary tract infections
1399	CRKL	HP:0002673	Coxa valga
1399	CRKL	HP:0002607	Bowel incontinence
1399	CRKL	HP:0000160	Narrow mouth
1399	CRKL	HP:0000175	Cleft palate
1399	CRKL	HP:0002705	High, narrow palate
1399	CRKL	HP:0002721	Immunodeficiency
1399	CRKL	HP:0002021	Pyloric stenosis
1399	CRKL	HP:0003307	Hyperlordosis
1399	CRKL	HP:0009465	Ulnar deviation of finger
1399	CRKL	HP:0100490	Camptodactyly of finger
1399	CRKL	HP:0002205	Recurrent respiratory infections
1399	CRKL	HP:0007018	Attention deficit hyperactivity disorder
1399	CRKL	HP:0009795	Branchial fistula
1399	CRKL	HP:0004942	Aortic aneurysm
1399	CRKL	HP:0004209	Clinodactyly of the 5th finger
1399	CRKL	HP:0004279	Short palm
1399	CRKL	HP:0000657	Oculomotor apraxia
1399	CRKL	HP:0004322	Short stature
1399	CRKL	HP:0005692	Joint hyperflexibility
1399	CRKL	HP:0100033	Tics
1399	CRKL	HP:0000716	Depression
1399	CRKL	HP:0000722	Compulsive behaviors
1399	CRKL	HP:0010296	Ankyloglossia
1399	CRKL	HP:0000276	Long face
1399	CRKL	HP:0000272	Malar flattening
1399	CRKL	HP:0000252	Microcephaly
1399	CRKL	HP:0000219	Thin upper lip vermilion
1399	CRKL	HP:0001511	Intrauterine growth retardation
1399	CRKL	HP:0001510	Growth delay
1399	CRKL	HP:0006487	Bowing of the long bones
1399	CRKL	HP:0000363	Abnormal earlobe morphology
1399	CRKL	HP:0000319	Smooth philtrum
1399	CRKL	HP:0001660	Truncus arteriosus
1399	CRKL	HP:0001659	Aortic regurgitation
1399	CRKL	HP:0000324	Facial asymmetry
1399	CRKL	HP:0001629	Ventricular septal defect
1399	CRKL	HP:0001622	Premature birth
1399	CRKL	HP:0000307	Pointed chin
1399	CRKL	HP:0001631	Atrial septal defect
1399	CRKL	HP:0000407	Sensorineural hearing impairment
1399	CRKL	HP:0000490	Deeply set eye
1399	CRKL	HP:0001770	Toe syndactyly
1399	CRKL	HP:0001763	Pes planus
1399	CRKL	HP:0000453	Choanal atresia
1399	CRKL	HP:0000430	Underdeveloped nasal alae
1399	CRKL	HP:0000426	Prominent nasal bridge
1399	CRKL	HP:0001852	Sandal gap
1399	CRKL	HP:0001802	Absent toenail
1399	CRKL	HP:0001817	Absent fingernail
1399	CRKL	HP:0000581	Blepharophimosis
1406	CRX	HP:0001133	Constriction of peripheral visual field
1406	CRX	HP:0001141	Severely reduced visual acuity
1406	CRX	HP:0001250	Seizure
1406	CRX	HP:0001252	Hypotonia
1406	CRX	HP:0001249	Intellectual disability
1406	CRX	HP:0001263	Global developmental delay
1406	CRX	HP:0008736	Hypoplasia of penis
1406	CRX	HP:0012043	Pendular nystagmus
1406	CRX	HP:0001347	Hyperreflexia
1406	CRX	HP:0000035	Abnormal testis morphology
1406	CRX	HP:0000007	Autosomal recessive inheritance
1406	CRX	HP:0000006	Autosomal dominant inheritance
1406	CRX	HP:0000135	Hypogonadism
1406	CRX	HP:0007675	Progressive night blindness
1406	CRX	HP:0007663	Reduced visual acuity
1406	CRX	HP:0001419	X-linked recessive inheritance
1406	CRX	HP:0005978	Type II diabetes mellitus
1406	CRX	HP:0002084	Encephalocele
1406	CRX	HP:0003593	Infantile onset
1406	CRX	HP:0002269	Abnormality of neuronal migration
1406	CRX	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
1406	CRX	HP:0000639	Nystagmus
1406	CRX	HP:0000648	Optic atrophy
1406	CRX	HP:0000618	Blindness
1406	CRX	HP:0000613	Photophobia
1406	CRX	HP:0000602	Ophthalmoplegia
1406	CRX	HP:0000603	Central scotoma
1406	CRX	HP:0000662	Nyctalopia
1406	CRX	HP:0004374	Hemiplegia/hemiparesis
1406	CRX	HP:0012795	Abnormal optic disc morphology
1406	CRX	HP:0011509	Macular hyperpigmentation
1406	CRX	HP:0000842	Hyperinsulinemia
1406	CRX	HP:0000987	Atypical scarring of skin
1406	CRX	HP:0008046	Abnormal retinal vascular morphology
1406	CRX	HP:0007722	Retinal pigment epithelial atrophy
1406	CRX	HP:0007703	Abnormality of retinal pigmentation
1406	CRX	HP:0007737	Bone spicule pigmentation of the retina
1406	CRX	HP:0001513	Obesity
1406	CRX	HP:0000365	Hearing impairment
1406	CRX	HP:0031605	Abnormality of fundus pigmentation
1406	CRX	HP:0007994	Peripheral visual field loss
1406	CRX	HP:0000407	Sensorineural hearing impairment
1406	CRX	HP:0000405	Conductive hearing impairment
1406	CRX	HP:0000463	Anteverted nares
1406	CRX	HP:0000431	Wide nasal bridge
1406	CRX	HP:0012508	Metamorphopsia
1406	CRX	HP:0000518	Cataract
1406	CRX	HP:0000510	Rod-cone dystrophy
1406	CRX	HP:0000512	Abnormal electroretinogram
1406	CRX	HP:0000505	Visual impairment
1406	CRX	HP:0000501	Glaucoma
1406	CRX	HP:0000563	Keratoconus
1406	CRX	HP:0000533	Chorioretinal atrophy
1406	CRX	HP:0000550	Undetectable electroretinogram
1406	CRX	HP:0000551	Color vision defect
1406	CRX	HP:0000548	Cone/cone-rod dystrophy
1407	CRY1	HP:0000006	Autosomal dominant inheritance
1407	CRY1	HP:0031354	Sleep onset insomnia
1409	CRYAA	HP:0001131	Corneal dystrophy
1409	CRYAA	HP:0000007	Autosomal recessive inheritance
1409	CRYAA	HP:0000006	Autosomal dominant inheritance
1409	CRYAA	HP:0000639	Nystagmus
1409	CRYAA	HP:0000646	Amblyopia
1409	CRYAA	HP:0000612	Iris coloboma
1409	CRYAA	HP:0007834	Progressive cataract
1409	CRYAA	HP:0007957	Corneal opacity
1409	CRYAA	HP:0000486	Strabismus
1409	CRYAA	HP:0000482	Microcornea
1409	CRYAA	HP:0000518	Cataract
1409	CRYAA	HP:0000519	Developmental cataract
1409	CRYAA	HP:0000505	Visual impairment
1409	CRYAA	HP:0000501	Glaucoma
1409	CRYAA	HP:0000568	Microphthalmia
1409	CRYAA	HP:0000545	Myopia
1410	CRYAB	HP:0002460	Distal muscle weakness
1410	CRYAB	HP:0001142	Lenticonus
1410	CRYAB	HP:0001115	Posterior polar cataract
1410	CRYAB	HP:0003749	Pelvic girdle muscle weakness
1410	CRYAB	HP:0003731	Quadriceps muscle weakness
1410	CRYAB	HP:0003736	Autophagic vacuoles
1410	CRYAB	HP:0001276	Hypertonia
1410	CRYAB	HP:0001265	Hyporeflexia
1410	CRYAB	HP:0007340	Lower limb muscle weakness
1410	CRYAB	HP:0001349	Facial diplegia
1410	CRYAB	HP:0000007	Autosomal recessive inheritance
1410	CRYAB	HP:0000006	Autosomal dominant inheritance
1410	CRYAB	HP:0033755	Increased left ventricular end-diastolic volume
1410	CRYAB	HP:0008969	Leg muscle stiffness
1410	CRYAB	HP:0002747	Respiratory insufficiency due to muscle weakness
1410	CRYAB	HP:0003327	Axial muscle weakness
1410	CRYAB	HP:0003325	Limb-girdle muscle weakness
1410	CRYAB	HP:0002015	Dysphagia
1410	CRYAB	HP:0002093	Respiratory insufficiency
1410	CRYAB	HP:0002063	Rigidity
1410	CRYAB	HP:0100578	Lipoatrophy
1410	CRYAB	HP:0003457	EMG abnormality
1410	CRYAB	HP:0003458	EMG: myopathic abnormalities
1410	CRYAB	HP:0004756	Ventricular tachycardia
1410	CRYAB	HP:0003438	Absent Achilles reflex
1410	CRYAB	HP:0002104	Apnea
1410	CRYAB	HP:0003493	Antinuclear antibody positivity
1410	CRYAB	HP:0003596	Middle age onset
1410	CRYAB	HP:0003593	Infantile onset
1410	CRYAB	HP:0003577	Congenital onset
1410	CRYAB	HP:0003581	Adult onset
1410	CRYAB	HP:0003555	Muscle fiber splitting
1410	CRYAB	HP:0003552	Muscle stiffness
1410	CRYAB	HP:0003547	Shoulder girdle muscle weakness
1410	CRYAB	HP:0003560	Muscular dystrophy
1410	CRYAB	HP:0003557	Increased variability in muscle fiber diameter
1410	CRYAB	HP:0002380	Fasciculations
1410	CRYAB	HP:0003694	Late-onset proximal muscle weakness
1410	CRYAB	HP:0002355	Difficulty walking
1410	CRYAB	HP:0003677	Slowly progressive
1410	CRYAB	HP:0003678	Rapidly progressive
1410	CRYAB	HP:0003623	Neonatal onset
1410	CRYAB	HP:0009072	Decreased Achilles reflex
1410	CRYAB	HP:0009073	Progressive proximal muscle weakness
1410	CRYAB	HP:0009063	Progressive distal muscle weakness
1410	CRYAB	HP:0012665	Moderately reduced left ventricular ejection fraction
1410	CRYAB	HP:0009027	Foot dorsiflexor weakness
1410	CRYAB	HP:0100020	Posterior capsular cataract
1410	CRYAB	HP:0012764	Orthopnea
1410	CRYAB	HP:0003198	Myopathy
1410	CRYAB	HP:0100324	Scleroderma
1410	CRYAB	HP:0040081	Abnormal circulating creatine kinase concentration
1410	CRYAB	HP:0003236	Elevated circulating creatine kinase concentration
1410	CRYAB	HP:0000982	Palmoplantar keratoderma
1410	CRYAB	HP:0100299	Muscle fiber inclusion bodies
1410	CRYAB	HP:0002878	Respiratory failure
1410	CRYAB	HP:0001522	Death in infancy
1410	CRYAB	HP:0030207	Paradoxical respiration
1410	CRYAB	HP:0001618	Dysphonia
1410	CRYAB	HP:0001612	Weak cry
1410	CRYAB	HP:0011003	High myopia
1410	CRYAB	HP:0001644	Dilated cardiomyopathy
1410	CRYAB	HP:0001653	Mitral regurgitation
1410	CRYAB	HP:0001639	Hypertrophic cardiomyopathy
1410	CRYAB	HP:0001638	Cardiomyopathy
1410	CRYAB	HP:0000407	Sensorineural hearing impairment
1410	CRYAB	HP:0030225	Accumulation of muscle fiber desmin
1410	CRYAB	HP:0000467	Neck muscle weakness
1410	CRYAB	HP:0025717	Skeletal muscle autophagosome accumulation
1410	CRYAB	HP:0000518	Cataract
1410	CRYAB	HP:0000519	Developmental cataract
1410	CRYAB	HP:0000556	Retinal dystrophy
1410	CRYAB	HP:0001874	Abnormality of neutrophils
1411	CRYBA1	HP:0010920	Zonular cataract
1411	CRYBA1	HP:0000006	Autosomal dominant inheritance
1411	CRYBA1	HP:0003577	Congenital onset
1411	CRYBA1	HP:0100018	Nuclear cataract
1411	CRYBA1	HP:0008031	Posterior Y-sutural cataract
1411	CRYBA1	HP:0000519	Developmental cataract
1412	CRYBA2	HP:0000006	Autosomal dominant inheritance
1412	CRYBA2	HP:0003577	Congenital onset
1412	CRYBA2	HP:0011462	Young adult onset
1412	CRYBA2	HP:0000518	Cataract
1412	CRYBA2	HP:0000519	Developmental cataract
1412	CRYBA2	HP:0000501	Glaucoma
1412	CRYBA2	HP:0000545	Myopia
1413	CRYBA4	HP:0001131	Corneal dystrophy
1413	CRYBA4	HP:0000006	Autosomal dominant inheritance
1413	CRYBA4	HP:0000639	Nystagmus
1413	CRYBA4	HP:0000612	Iris coloboma
1413	CRYBA4	HP:0007957	Corneal opacity
1413	CRYBA4	HP:0007971	Lamellar cataract
1413	CRYBA4	HP:0000482	Microcornea
1413	CRYBA4	HP:0000518	Cataract
1413	CRYBA4	HP:0000545	Myopia
1414	CRYBB1	HP:0001131	Corneal dystrophy
1414	CRYBB1	HP:0000007	Autosomal recessive inheritance
1414	CRYBB1	HP:0000006	Autosomal dominant inheritance
1414	CRYBB1	HP:0007663	Reduced visual acuity
1414	CRYBB1	HP:0003577	Congenital onset
1414	CRYBB1	HP:0010693	Pulverulent cataract
1414	CRYBB1	HP:0000639	Nystagmus
1414	CRYBB1	HP:0000646	Amblyopia
1414	CRYBB1	HP:0000612	Iris coloboma
1414	CRYBB1	HP:0100018	Nuclear cataract
1414	CRYBB1	HP:0007957	Corneal opacity
1414	CRYBB1	HP:0000482	Microcornea
1414	CRYBB1	HP:0000518	Cataract
1414	CRYBB1	HP:0000519	Developmental cataract
1414	CRYBB1	HP:0000545	Myopia
1415	CRYBB2	HP:0001131	Corneal dystrophy
1415	CRYBB2	HP:0000006	Autosomal dominant inheritance
1415	CRYBB2	HP:0010698	Nuclear pulverulent cataract
1415	CRYBB2	HP:0010695	Sutural cataract
1415	CRYBB2	HP:0000639	Nystagmus
1415	CRYBB2	HP:0000612	Iris coloboma
1415	CRYBB2	HP:0007957	Corneal opacity
1415	CRYBB2	HP:0007976	Cerulean cataract
1415	CRYBB2	HP:0000482	Microcornea
1415	CRYBB2	HP:0000518	Cataract
1415	CRYBB2	HP:0000519	Developmental cataract
1415	CRYBB2	HP:0000545	Myopia
1417	CRYBB3	HP:0000007	Autosomal recessive inheritance
1417	CRYBB3	HP:0000006	Autosomal dominant inheritance
1417	CRYBB3	HP:0003577	Congenital onset
1417	CRYBB3	HP:0100018	Nuclear cataract
1417	CRYBB3	HP:0000519	Developmental cataract
1417	CRYBB3	HP:0000501	Glaucoma
1419	CRYGB	HP:0001134	Anterior polar cataract
1419	CRYGB	HP:0000006	Autosomal dominant inheritance
1419	CRYGB	HP:0003577	Congenital onset
1419	CRYGB	HP:0007971	Lamellar cataract
1419	CRYGB	HP:0000519	Developmental cataract
1420	CRYGC	HP:0001131	Corneal dystrophy
1420	CRYGC	HP:0010926	Aculeiform cataract
1420	CRYGC	HP:0000006	Autosomal dominant inheritance
1420	CRYGC	HP:0010698	Nuclear pulverulent cataract
1420	CRYGC	HP:0000639	Nystagmus
1420	CRYGC	HP:0000646	Amblyopia
1420	CRYGC	HP:0000613	Photophobia
1420	CRYGC	HP:0000612	Iris coloboma
1420	CRYGC	HP:0100018	Nuclear cataract
1420	CRYGC	HP:0007957	Corneal opacity
1420	CRYGC	HP:0000482	Microcornea
1420	CRYGC	HP:0000518	Cataract
1420	CRYGC	HP:0000519	Developmental cataract
1420	CRYGC	HP:0000505	Visual impairment
1420	CRYGC	HP:0000545	Myopia
1421	CRYGD	HP:0001131	Corneal dystrophy
1421	CRYGD	HP:0000006	Autosomal dominant inheritance
1421	CRYGD	HP:0000639	Nystagmus
1421	CRYGD	HP:0000612	Iris coloboma
1421	CRYGD	HP:0007957	Corneal opacity
1421	CRYGD	HP:0000482	Microcornea
1421	CRYGD	HP:0000518	Cataract
1421	CRYGD	HP:0000519	Developmental cataract
1421	CRYGD	HP:0000545	Myopia
1427	CRYGS	HP:0010922	Membranous cataract
1427	CRYGS	HP:0000006	Autosomal dominant inheritance
1427	CRYGS	HP:0010695	Sutural cataract
1427	CRYGS	HP:0003621	Juvenile onset
1427	CRYGS	HP:0100019	Cortical cataract
1427	CRYGS	HP:0007971	Lamellar cataract
1428	CRYM	HP:0000006	Autosomal dominant inheritance
1428	CRYM	HP:0000407	Sensorineural hearing impairment
1428	CRYM	HP:0001751	Abnormal vestibular function
1436	CSF1R	HP:0002465	Poor speech
1436	CSF1R	HP:0007305	CNS demyelination
1436	CSF1R	HP:0001274	Agenesis of corpus callosum
1436	CSF1R	HP:0001268	Mental deterioration
1436	CSF1R	HP:0001288	Gait disturbance
1436	CSF1R	HP:0001250	Seizure
1436	CSF1R	HP:0001251	Ataxia
1436	CSF1R	HP:0001249	Intellectual disability
1436	CSF1R	HP:0001260	Dysarthria
1436	CSF1R	HP:0001263	Global developmental delay
1436	CSF1R	HP:0001257	Spasticity
1436	CSF1R	HP:0008765	Auditory hallucinations
1436	CSF1R	HP:0100861	Sclerotic vertebral body
1436	CSF1R	HP:0007371	Corpus callosum atrophy
1436	CSF1R	HP:0007359	Focal-onset seizure
1436	CSF1R	HP:0002514	Cerebral calcification
1436	CSF1R	HP:0002529	Neuronal loss in central nervous system
1436	CSF1R	HP:0002510	Spastic tetraplegia
1436	CSF1R	HP:0002500	Abnormal cerebral white matter morphology
1436	CSF1R	HP:0001347	Hyperreflexia
1436	CSF1R	HP:0000007	Autosomal recessive inheritance
1436	CSF1R	HP:0000006	Autosomal dominant inheritance
1436	CSF1R	HP:0001305	Dandy-Walker malformation
1436	CSF1R	HP:0001321	Cerebellar hypoplasia
1436	CSF1R	HP:0001300	Parkinsonism
1436	CSF1R	HP:0002015	Dysphagia
1436	CSF1R	HP:0100543	Cognitive impairment
1436	CSF1R	HP:0002067	Bradykinesia
1436	CSF1R	HP:0002063	Rigidity
1436	CSF1R	HP:0003474	Somatic sensory dysfunction
1436	CSF1R	HP:0002119	Ventriculomegaly
1436	CSF1R	HP:0002186	Apraxia
1436	CSF1R	HP:0002180	Neurodegeneration
1436	CSF1R	HP:0002171	Gliosis
1436	CSF1R	HP:0002172	Postural instability
1436	CSF1R	HP:0003596	Middle age onset
1436	CSF1R	HP:0003577	Congenital onset
1436	CSF1R	HP:0003581	Adult onset
1436	CSF1R	HP:0002283	Global brain atrophy
1436	CSF1R	HP:0002280	Enlarged cisterna magna
1436	CSF1R	HP:0007099	Chiari type I malformation
1436	CSF1R	HP:0002362	Shuffling gait
1436	CSF1R	HP:0003676	Progressive
1436	CSF1R	HP:0002355	Difficulty walking
1436	CSF1R	HP:0002354	Memory impairment
1436	CSF1R	HP:0002352	Leukoencephalopathy
1436	CSF1R	HP:0003678	Rapidly progressive
1436	CSF1R	HP:0004975	Erlenmeyer flask deformity of the femurs
1436	CSF1R	HP:0010804	Tented upper lip vermilion
1436	CSF1R	HP:0007165	Periventricular heterotopia
1436	CSF1R	HP:0002300	Mutism
1436	CSF1R	HP:0003621	Juvenile onset
1436	CSF1R	HP:0000639	Nystagmus
1436	CSF1R	HP:0000648	Optic atrophy
1436	CSF1R	HP:0004330	Increased skull ossification
1436	CSF1R	HP:0003034	Diaphyseal sclerosis
1436	CSF1R	HP:0003016	Metaphyseal widening
1436	CSF1R	HP:0000768	Pectus carinatum
1436	CSF1R	HP:0000748	Inappropriate laughter
1436	CSF1R	HP:0000746	Delusions
1436	CSF1R	HP:0000716	Depression
1436	CSF1R	HP:0000727	Frontal lobe dementia
1436	CSF1R	HP:0011463	Childhood onset
1436	CSF1R	HP:0000926	Platyspondyly
1436	CSF1R	HP:0030890	Hyperintensity of cerebral white matter on MRI
1436	CSF1R	HP:0034381	Central nervous system axonal spheroid
1436	CSF1R	HP:0033051	Impaired executive functioning
1436	CSF1R	HP:0000286	Epicanthus
1436	CSF1R	HP:0001591	Bell-shaped thorax
1436	CSF1R	HP:0000256	Macrocephaly
1436	CSF1R	HP:0002808	Kyphosis
1436	CSF1R	HP:0000238	Hydrocephalus
1436	CSF1R	HP:0002901	Hypocalcemia
1436	CSF1R	HP:0011002	Osteopetrosis
1436	CSF1R	HP:0000414	Bulbous nose
1436	CSF1R	HP:0025710	Late young adult onset
1436	CSF1R	HP:0005464	Craniofacial osteosclerosis
1436	CSF1R	HP:0000527	Long eyelashes
1436	CSF1R	HP:0000505	Visual impairment
1438	CSF2RA	HP:0025179	Ground-glass opacification
1438	CSF2RA	HP:0010876	Abnormal circulating protein concentration
1438	CSF2RA	HP:0031029	Elevated carcinoembryonic antigen level
1438	CSF2RA	HP:0032341	Reduced forced vital capacity
1438	CSF2RA	HP:0032342	Reduced forced expiratory volume in one second
1438	CSF2RA	HP:0025391	Crazy paving pattern
1438	CSF2RA	HP:0002789	Tachypnea
1438	CSF2RA	HP:0001417	X-linked inheritance
1438	CSF2RA	HP:0002098	Respiratory distress
1438	CSF2RA	HP:0002091	Restrictive ventilatory defect
1438	CSF2RA	HP:0004887	Respiratory failure requiring assisted ventilation
1438	CSF2RA	HP:0011949	Acute infectious pneumonia
1438	CSF2RA	HP:0003651	Foam cells
1438	CSF2RA	HP:0012735	Cough
1438	CSF2RA	HP:0045051	Decreased DLCO
1438	CSF2RA	HP:0030830	Crackles
1438	CSF2RA	HP:0030057	Autoimmune antibody positivity
1438	CSF2RA	HP:0001531	Failure to thrive in infancy
1438	CSF2RA	HP:0001508	Failure to thrive
1438	CSF2RA	HP:0006517	Intraalveolar phospholipid accumulation
1438	CSF2RA	HP:0001649	Tachycardia
1438	CSF2RA	HP:0012418	Hypoxemia
1439	CSF2RB	HP:0025179	Ground-glass opacification
1439	CSF2RB	HP:0010876	Abnormal circulating protein concentration
1439	CSF2RB	HP:0031029	Elevated carcinoembryonic antigen level
1439	CSF2RB	HP:0025391	Crazy paving pattern
1439	CSF2RB	HP:0000007	Autosomal recessive inheritance
1439	CSF2RB	HP:0002789	Tachypnea
1439	CSF2RB	HP:0002098	Respiratory distress
1439	CSF2RB	HP:0002094	Dyspnea
1439	CSF2RB	HP:0002093	Respiratory insufficiency
1439	CSF2RB	HP:0002091	Restrictive ventilatory defect
1439	CSF2RB	HP:0004887	Respiratory failure requiring assisted ventilation
1439	CSF2RB	HP:0011949	Acute infectious pneumonia
1439	CSF2RB	HP:0020050	Anti-granulocyte-macrophage colony stimulating factor antibody positivity
1439	CSF2RB	HP:0003651	Foam cells
1439	CSF2RB	HP:0012735	Cough
1439	CSF2RB	HP:0030879	Interlobular septal thickening
1439	CSF2RB	HP:0030830	Crackles
1439	CSF2RB	HP:0030057	Autoimmune antibody positivity
1439	CSF2RB	HP:0002875	Exertional dyspnea
1439	CSF2RB	HP:0001531	Failure to thrive in infancy
1439	CSF2RB	HP:0006517	Intraalveolar phospholipid accumulation
1439	CSF2RB	HP:0001649	Tachycardia
1439	CSF2RB	HP:0012418	Hypoxemia
1441	CSF3R	HP:0000007	Autosomal recessive inheritance
1441	CSF3R	HP:0000006	Autosomal dominant inheritance
1441	CSF3R	HP:0012138	Granulocytic hyperplasia
1441	CSF3R	HP:0002719	Recurrent infections
1441	CSF3R	HP:0011897	Neutrophilia
1441	CSF3R	HP:0008318	Elevated leukocyte alkaline phosphatase
1441	CSF3R	HP:0002863	Myelodysplasia
1441	CSF3R	HP:0001744	Splenomegaly
1441	CSF3R	HP:0001875	Neutropenia
1453	CSNK1D	HP:0000006	Autosomal dominant inheritance
1453	CSNK1D	HP:0002083	Migraine without aura
1453	CSNK1D	HP:0002076	Migraine
1453	CSNK1D	HP:0002077	Migraine with aura
1453	CSNK1D	HP:0031873	Early chronotype
1453	CSNK1D	HP:0006979	Sleep-wake cycle disturbance
1457	CSNK2A1	HP:0001156	Brachydactyly
1457	CSNK2A1	HP:0025161	Frequent temper tantrums
1457	CSNK2A1	HP:0009879	Simplified gyral pattern
1457	CSNK2A1	HP:0001252	Hypotonia
1457	CSNK2A1	HP:0001251	Ataxia
1457	CSNK2A1	HP:0001249	Intellectual disability
1457	CSNK2A1	HP:0001263	Global developmental delay
1457	CSNK2A1	HP:0002553	Highly arched eyebrow
1457	CSNK2A1	HP:0001382	Joint hypermobility
1457	CSNK2A1	HP:0000023	Inguinal hernia
1457	CSNK2A1	HP:0001344	Absent speech
1457	CSNK2A1	HP:0000006	Autosomal dominant inheritance
1457	CSNK2A1	HP:0001302	Pachygyria
1457	CSNK2A1	HP:0002650	Scoliosis
1457	CSNK2A1	HP:0002720	Decreased circulating IgA level
1457	CSNK2A1	HP:0002019	Constipation
1457	CSNK2A1	HP:0003593	Infantile onset
1457	CSNK2A1	HP:0007018	Attention deficit hyperactivity disorder
1457	CSNK2A1	HP:0011968	Feeding difficulties
1457	CSNK2A1	HP:0002360	Sleep disturbance
1457	CSNK2A1	HP:0010819	Atonic seizure
1457	CSNK2A1	HP:0010808	Protruding tongue
1457	CSNK2A1	HP:0004209	Clinodactyly of the 5th finger
1457	CSNK2A1	HP:0010055	Broad hallux
1457	CSNK2A1	HP:0000664	Synophrys
1457	CSNK2A1	HP:0004315	Decreased circulating IgG level
1457	CSNK2A1	HP:0004313	Decreased circulating antibody level
1457	CSNK2A1	HP:0031936	Delayed ability to walk
1457	CSNK2A1	HP:0100023	Recurrent hand flapping
1457	CSNK2A1	HP:0000750	Delayed speech and language development
1457	CSNK2A1	HP:0000954	Single transverse palmar crease
1457	CSNK2A1	HP:0000286	Epicanthus
1457	CSNK2A1	HP:0000252	Microcephaly
1457	CSNK2A1	HP:0000219	Thin upper lip vermilion
1457	CSNK2A1	HP:0000218	High palate
1457	CSNK2A1	HP:0001561	Polyhydramnios
1457	CSNK2A1	HP:0001537	Umbilical hernia
1457	CSNK2A1	HP:0001508	Failure to thrive
1457	CSNK2A1	HP:0000378	Cupped ear
1457	CSNK2A1	HP:0000396	Overfolded helix
1457	CSNK2A1	HP:0000369	Low-set ears
1457	CSNK2A1	HP:0000347	Micrognathia
1457	CSNK2A1	HP:0000316	Hypertelorism
1457	CSNK2A1	HP:0001627	Abnormal heart morphology
1457	CSNK2A1	HP:0000463	Anteverted nares
1457	CSNK2A1	HP:0000431	Wide nasal bridge
1457	CSNK2A1	HP:0000508	Ptosis
1457	CSNK2A1	HP:0000537	Epicanthus inversus
1460	CSNK2B	HP:0001290	Generalized hypotonia
1460	CSNK2B	HP:0001249	Intellectual disability
1460	CSNK2B	HP:0000006	Autosomal dominant inheritance
1460	CSNK2B	HP:0000194	Open mouth
1460	CSNK2B	HP:0002714	Downturned corners of mouth
1460	CSNK2B	HP:0010808	Protruding tongue
1460	CSNK2B	HP:0031936	Delayed ability to walk
1460	CSNK2B	HP:0032794	Myoclonic seizure
1460	CSNK2B	HP:0000319	Smooth philtrum
1460	CSNK2B	HP:0000303	Mandibular prognathia
1462	VCAN	HP:0001123	Visual field defect
1462	VCAN	HP:0000006	Autosomal dominant inheritance
1462	VCAN	HP:0007643	Peripheral tractional retinal detachment
1462	VCAN	HP:0000648	Optic atrophy
1462	VCAN	HP:0030490	Exudative vitreoretinopathy
1462	VCAN	HP:0030663	Optically empty vitreous
1462	VCAN	HP:0007722	Retinal pigment epithelial atrophy
1462	VCAN	HP:0007773	Vitreoretinopathy
1462	VCAN	HP:0000518	Cataract
1462	VCAN	HP:0000501	Glaucoma
1462	VCAN	HP:0000572	Visual loss
1462	VCAN	HP:0000533	Chorioretinal atrophy
1462	VCAN	HP:0000545	Myopia
1468	SLC25A10	HP:0001290	Generalized hypotonia
1468	SLC25A10	HP:0001257	Spasticity
1468	SLC25A10	HP:0007359	Focal-onset seizure
1468	SLC25A10	HP:0000047	Hypospadias
1468	SLC25A10	HP:0000034	Hydrocele testis
1468	SLC25A10	HP:0000007	Autosomal recessive inheritance
1468	SLC25A10	HP:0001336	Myoclonus
1468	SLC25A10	HP:0002079	Hypoplasia of the corpus callosum
1468	SLC25A10	HP:0002151	Increased serum lactate
1468	SLC25A10	HP:0011923	Decreased activity of mitochondrial complex I
1468	SLC25A10	HP:0002273	Tetraparesis
1468	SLC25A10	HP:0010841	Multifocal epileptiform discharges
1468	SLC25A10	HP:0100660	Dyskinesia
1468	SLC25A10	HP:0001935	Microcytic anemia
1468	SLC25A10	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
1468	SLC25A10	HP:0000365	Hearing impairment
1468	SLC25A10	HP:0012469	Infantile spasms
1471	CST3	HP:0001297	Stroke
1471	CST3	HP:0010982	Polygenic inheritance
1471	CST3	HP:0001342	Cerebral hemorrhage
1471	CST3	HP:0000006	Autosomal dominant inheritance
1471	CST3	HP:0002170	Intracranial hemorrhage
1471	CST3	HP:0011970	Cerebral amyloid angiopathy
1471	CST3	HP:0100613	Death in early adulthood
1471	CST3	HP:0000608	Macular degeneration
1471	CST3	HP:0000726	Dementia
1471	CST3	HP:0003216	Generalized amyloid deposition
1471	CST3	HP:0011034	Amyloidosis
1474	CST6	HP:0000007	Autosomal recessive inheritance
1474	CST6	HP:0003577	Congenital onset
1474	CST6	HP:0002217	Slow-growing hair
1474	CST6	HP:0002231	Sparse body hair
1474	CST6	HP:0002209	Sparse scalp hair
1474	CST6	HP:0000613	Photophobia
1474	CST6	HP:0000653	Sparse eyelashes
1474	CST6	HP:0000989	Pruritus
1474	CST6	HP:0000982	Palmoplantar keratoderma
1474	CST6	HP:0000958	Dry skin
1474	CST6	HP:0000964	Eczema
1474	CST6	HP:0000966	Hypohidrosis
1474	CST6	HP:0008070	Sparse hair
1474	CST6	HP:0000498	Blepharitis
1475	CSTA	HP:0000007	Autosomal recessive inheritance
1475	CSTA	HP:0007605	Excessive wrinkling of palmar skin
1475	CSTA	HP:0008404	Nail dystrophy
1475	CSTA	HP:0100725	Lichenification
1475	CSTA	HP:0025092	Epidermal acanthosis
1475	CSTA	HP:0200034	Papule
1475	CSTA	HP:0200041	Skin erosion
1475	CSTA	HP:0008499	High hypermetropia
1475	CSTA	HP:0010783	Erythema
1475	CSTA	HP:0012733	Macule
1475	CSTA	HP:0000982	Palmoplantar keratoderma
1475	CSTA	HP:0000953	Hyperpigmentation of the skin
1475	CSTA	HP:0000964	Eczema
1475	CSTA	HP:0000962	Hyperkeratosis
1475	CSTA	HP:0040162	Orthokeratosis
1475	CSTA	HP:0008064	Ichthyosis
1475	CSTA	HP:0008066	Abnormal blistering of the skin
1475	CSTA	HP:0040189	Scaling skin
1475	CSTA	HP:0012393	Allergy
1476	CSTB	HP:0010850	EEG with spike-wave complexes
1476	CSTB	HP:0001268	Mental deterioration
1476	CSTB	HP:0001256	Intellectual disability, mild
1476	CSTB	HP:0001251	Ataxia
1476	CSTB	HP:0001249	Intellectual disability
1476	CSTB	HP:0001260	Dysarthria
1476	CSTB	HP:0001231	Abnormal fingernail morphology
1476	CSTB	HP:0000007	Autosomal recessive inheritance
1476	CSTB	HP:0001336	Myoclonus
1476	CSTB	HP:0006323	Premature loss of primary teeth
1476	CSTB	HP:0002080	Intention tremor
1476	CSTB	HP:0002069	Bilateral tonic-clonic seizure
1476	CSTB	HP:0002070	Limb ataxia
1476	CSTB	HP:0002121	Generalized non-motor (absence) seizure
1476	CSTB	HP:0002213	Fine hair
1476	CSTB	HP:0007000	Morning myoclonic jerks
1476	CSTB	HP:0008388	Abnormal toenail morphology
1476	CSTB	HP:0002392	EEG with polyspike wave complexes
1476	CSTB	HP:0003621	Juvenile onset
1476	CSTB	HP:0000685	Hypoplasia of teeth
1476	CSTB	HP:0000726	Dementia
1476	CSTB	HP:0000992	Cutaneous photosensitivity
1476	CSTB	HP:0000958	Dry skin
1476	CSTB	HP:0000966	Hypohidrosis
1476	CSTB	HP:0001595	Abnormal hair morphology
1476	CSTB	HP:0001596	Alopecia
1476	CSTB	HP:0006482	Abnormality of dental morphology
1476	CSTB	HP:0011182	Interictal epileptiform activity
1482	NKX2-5	HP:0001156	Brachydactyly
1482	NKX2-5	HP:0010883	Aortic valve atresia
1482	NKX2-5	HP:0009891	Underdeveloped supraorbital ridges
1482	NKX2-5	HP:0010864	Intellectual disability, severe
1482	NKX2-5	HP:0032210	Decreased circulating free T3
1482	NKX2-5	HP:0001297	Stroke
1482	NKX2-5	HP:0001279	Syncope
1482	NKX2-5	HP:0001252	Hypotonia
1482	NKX2-5	HP:0001263	Global developmental delay
1482	NKX2-5	HP:0000028	Cryptorchidism
1482	NKX2-5	HP:0001324	Muscle weakness
1482	NKX2-5	HP:0000007	Autosomal recessive inheritance
1482	NKX2-5	HP:0000006	Autosomal dominant inheritance
1482	NKX2-5	HP:0000158	Macroglossia
1482	NKX2-5	HP:0002718	Recurrent bacterial infections
1482	NKX2-5	HP:0002019	Constipation
1482	NKX2-5	HP:0002027	Abdominal pain
1482	NKX2-5	HP:0005990	Thyroid hypoplasia
1482	NKX2-5	HP:0005957	Breathing dysregulation
1482	NKX2-5	HP:0002094	Dyspnea
1482	NKX2-5	HP:0002092	Pulmonary arterial hypertension
1482	NKX2-5	HP:0002090	Pneumonia
1482	NKX2-5	HP:0011710	Bundle branch block
1482	NKX2-5	HP:0011705	First degree atrioventricular block
1482	NKX2-5	HP:0008191	Thyroid agenesis
1482	NKX2-5	HP:0004755	Supraventricular tachycardia
1482	NKX2-5	HP:0004749	Atrial flutter
1482	NKX2-5	HP:0003577	Congenital onset
1482	NKX2-5	HP:0003546	Exercise intolerance
1482	NKX2-5	HP:0100786	Hypersomnia
1482	NKX2-5	HP:0011968	Feeding difficulties
1482	NKX2-5	HP:0002321	Vertigo
1482	NKX2-5	HP:0002326	Transient ischemic attack
1482	NKX2-5	HP:0009800	Maternal diabetes
1482	NKX2-5	HP:0010741	Pedal edema
1482	NKX2-5	HP:0004962	Thoracic aorta calcification
1482	NKX2-5	HP:0004935	Pulmonary artery atresia
1482	NKX2-5	HP:0004933	Ascending aortic dissection
1482	NKX2-5	HP:0004209	Clinodactyly of the 5th finger
1482	NKX2-5	HP:0006887	Intellectual disability, progressive
1482	NKX2-5	HP:0001962	Palpitations
1482	NKX2-5	HP:0001939	Abnormality of metabolism/homeostasis
1482	NKX2-5	HP:0010055	Broad hallux
1482	NKX2-5	HP:0004322	Short stature
1482	NKX2-5	HP:0004383	Hypoplastic left heart
1482	NKX2-5	HP:0004380	Aortic valve calcification
1482	NKX2-5	HP:0012722	Heart block
1482	NKX2-5	HP:0100028	Ectopic thyroid
1482	NKX2-5	HP:0012764	Orthopnea
1482	NKX2-5	HP:0004415	Pulmonary artery stenosis
1482	NKX2-5	HP:0004467	Preauricular pit
1482	NKX2-5	HP:0030718	Right atrial enlargement
1482	NKX2-5	HP:0000851	Congenital hypothyroidism
1482	NKX2-5	HP:0000822	Hypertension
1482	NKX2-5	HP:0000821	Hypothyroidism
1482	NKX2-5	HP:0000820	Abnormality of the thyroid gland
1482	NKX2-5	HP:0011560	Mitral atresia
1482	NKX2-5	HP:0033078	Decreased circulating free T4 concentration
1482	NKX2-5	HP:0003270	Abdominal distention
1482	NKX2-5	HP:0100259	Postaxial polydactyly
1482	NKX2-5	HP:0000952	Jaundice
1482	NKX2-5	HP:0000961	Cyanosis
1482	NKX2-5	HP:0011675	Arrhythmia
1482	NKX2-5	HP:0000280	Coarse facial features
1482	NKX2-5	HP:0012248	Prolonged PR interval
1482	NKX2-5	HP:0012250	ST segment depression
1482	NKX2-5	HP:0000271	Abnormality of the face
1482	NKX2-5	HP:0000268	Dolichocephaly
1482	NKX2-5	HP:0005133	Right ventricular dilatation
1482	NKX2-5	HP:0005115	Supraventricular arrhythmia
1482	NKX2-5	HP:0005113	Aortic arch aneurysm
1482	NKX2-5	HP:0005110	Atrial fibrillation
1482	NKX2-5	HP:0005105	Abnormal nasal morphology
1482	NKX2-5	HP:0000239	Large fontanelles
1482	NKX2-5	HP:0002875	Exertional dyspnea
1482	NKX2-5	HP:0000233	Thin vermilion border
1482	NKX2-5	HP:0001537	Umbilical hernia
1482	NKX2-5	HP:0000202	Orofacial cleft
1482	NKX2-5	HP:0001511	Intrauterine growth retardation
1482	NKX2-5	HP:0001510	Growth delay
1482	NKX2-5	HP:0012378	Fatigue
1482	NKX2-5	HP:0012382	Left-to-right shunt
1482	NKX2-5	HP:0006536	Airway obstruction
1482	NKX2-5	HP:0002916	Abnormality of chromosome segregation
1482	NKX2-5	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
1482	NKX2-5	HP:0005180	Tricuspid regurgitation
1482	NKX2-5	HP:0005162	Abnormal left ventricular function
1482	NKX2-5	HP:0001671	Abnormal cardiac septum morphology
1482	NKX2-5	HP:0001674	Complete atrioventricular canal defect
1482	NKX2-5	HP:0001669	Transposition of the great arteries
1482	NKX2-5	HP:0000337	Broad forehead
1482	NKX2-5	HP:0001682	Subvalvular aortic stenosis
1482	NKX2-5	HP:0001684	Secundum atrial septal defect
1482	NKX2-5	HP:0001680	Coarctation of aorta
1482	NKX2-5	HP:0001650	Aortic valve stenosis
1482	NKX2-5	HP:0012304	Hypoplastic aortic arch
1482	NKX2-5	HP:0001647	Bicuspid aortic valve
1482	NKX2-5	HP:0000316	Hypertelorism
1482	NKX2-5	HP:0001643	Patent ductus arteriosus
1482	NKX2-5	HP:0001660	Truncus arteriosus
1482	NKX2-5	HP:0030148	Heart murmur
1482	NKX2-5	HP:0001659	Aortic regurgitation
1482	NKX2-5	HP:0001653	Mitral regurgitation
1482	NKX2-5	HP:0001655	Patent foramen ovale
1482	NKX2-5	HP:0001629	Ventricular septal defect
1482	NKX2-5	HP:0001636	Tetralogy of Fallot
1482	NKX2-5	HP:0001635	Congestive heart failure
1482	NKX2-5	HP:0001631	Atrial septal defect
1482	NKX2-5	HP:0001633	Abnormal mitral valve morphology
1482	NKX2-5	HP:0005317	Increased pulmonary vascular resistance
1482	NKX2-5	HP:0001708	Right ventricular failure
1482	NKX2-5	HP:0001719	Double outlet right ventricle
1482	NKX2-5	HP:0001718	Mitral stenosis
1482	NKX2-5	HP:0001712	Left ventricular hypertrophy
1482	NKX2-5	HP:0011103	Abnormal left ventricular outflow tract morphology
1482	NKX2-5	HP:0000520	Proptosis
1482	NKX2-5	HP:0031664	Systolic heart murmur
1487	CTBP1	HP:0001177	Preaxial hand polydactyly
1487	CTBP1	HP:0001171	Split hand
1487	CTBP1	HP:0001166	Arachnodactyly
1487	CTBP1	HP:0009918	Ectopia pupillae
1487	CTBP1	HP:0009890	High anterior hairline
1487	CTBP1	HP:0010864	Intellectual disability, severe
1487	CTBP1	HP:0008551	Microtia
1487	CTBP1	HP:0003745	Sporadic
1487	CTBP1	HP:0001290	Generalized hypotonia
1487	CTBP1	HP:0001272	Cerebellar atrophy
1487	CTBP1	HP:0001274	Agenesis of corpus callosum
1487	CTBP1	HP:0001270	Motor delay
1487	CTBP1	HP:0001250	Seizure
1487	CTBP1	HP:0001252	Hypotonia
1487	CTBP1	HP:0001251	Ataxia
1487	CTBP1	HP:0001249	Intellectual disability
1487	CTBP1	HP:0001263	Global developmental delay
1487	CTBP1	HP:0007385	Aplasia cutis congenita of scalp
1487	CTBP1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
1487	CTBP1	HP:0002540	Inability to walk
1487	CTBP1	HP:0002553	Highly arched eyebrow
1487	CTBP1	HP:0000077	Abnormality of the kidney
1487	CTBP1	HP:0000079	Abnormality of the urinary system
1487	CTBP1	HP:0000078	Abnormality of the genital system
1487	CTBP1	HP:0025336	Delayed ability to sit
1487	CTBP1	HP:0001385	Hip dysplasia
1487	CTBP1	HP:0000047	Hypospadias
1487	CTBP1	HP:0001362	Calvarial skull defect
1487	CTBP1	HP:0000028	Cryptorchidism
1487	CTBP1	HP:0008850	Severe postnatal growth retardation
1487	CTBP1	HP:0008830	Hypoplastic pubic rami
1487	CTBP1	HP:0001331	Absent septum pellucidum
1487	CTBP1	HP:0000006	Autosomal dominant inheritance
1487	CTBP1	HP:0002650	Scoliosis
1487	CTBP1	HP:0000188	Short upper lip
1487	CTBP1	HP:0000159	Abnormal lip morphology
1487	CTBP1	HP:0000175	Cleft palate
1487	CTBP1	HP:0000153	Abnormality of the mouth
1487	CTBP1	HP:0000151	Aplasia of the uterus
1487	CTBP1	HP:0006297	Enamel hypoplasia
1487	CTBP1	HP:0000119	Abnormality of the genitourinary system
1487	CTBP1	HP:0002750	Delayed skeletal maturation
1487	CTBP1	HP:0002715	Abnormality of the immune system
1487	CTBP1	HP:0002714	Downturned corners of mouth
1487	CTBP1	HP:0002721	Immunodeficiency
1487	CTBP1	HP:0002020	Gastroesophageal reflux
1487	CTBP1	HP:0003363	Abdominal situs inversus
1487	CTBP1	HP:0002011	Morphological central nervous system abnormality
1487	CTBP1	HP:0002007	Frontal bossing
1487	CTBP1	HP:0003312	Abnormal form of the vertebral bodies
1487	CTBP1	HP:0002066	Gait ataxia
1487	CTBP1	HP:0002057	Prominent glabella
1487	CTBP1	HP:0002144	Tethered cord
1487	CTBP1	HP:0003468	Abnormal vertebral morphology
1487	CTBP1	HP:0002119	Ventriculomegaly
1487	CTBP1	HP:0004794	Malrotation of small bowel
1487	CTBP1	HP:0002162	Low posterior hairline
1487	CTBP1	HP:0011863	Abnormal sternal ossification
1487	CTBP1	HP:0003593	Infantile onset
1487	CTBP1	HP:0003557	Increased variability in muscle fiber diameter
1487	CTBP1	HP:0002205	Recurrent respiratory infections
1487	CTBP1	HP:0100790	Hernia
1487	CTBP1	HP:0011968	Feeding difficulties
1487	CTBP1	HP:0002389	Cavum septum pellucidum
1487	CTBP1	HP:0001028	Hemangioma
1487	CTBP1	HP:0002353	EEG abnormality
1487	CTBP1	HP:0001080	Biliary tract abnormality
1487	CTBP1	HP:0007109	Periventricular cysts
1487	CTBP1	HP:0009778	Short thumb
1487	CTBP1	HP:0000639	Nystagmus
1487	CTBP1	HP:0000648	Optic atrophy
1487	CTBP1	HP:0000647	Sclerocornea
1487	CTBP1	HP:0000612	Iris coloboma
1487	CTBP1	HP:0000668	Hypodontia
1487	CTBP1	HP:0004322	Short stature
1487	CTBP1	HP:0030680	Abnormality of cardiovascular system morphology
1487	CTBP1	HP:0009193	Pseudoepiphyses of the metacarpals
1487	CTBP1	HP:0100022	Abnormality of movement
1487	CTBP1	HP:0000765	Abnormal thorax morphology
1487	CTBP1	HP:0000750	Delayed speech and language development
1487	CTBP1	HP:0010109	Short hallux
1487	CTBP1	HP:0000776	Congenital diaphragmatic hernia
1487	CTBP1	HP:0003199	Decreased muscle mass
1487	CTBP1	HP:0000925	Abnormality of the vertebral column
1487	CTBP1	HP:0000902	Rib fusion
1487	CTBP1	HP:0004484	Craniofacial asymmetry
1487	CTBP1	HP:0004467	Preauricular pit
1487	CTBP1	HP:0000826	Precocious puberty
1487	CTBP1	HP:0000954	Single transverse palmar crease
1487	CTBP1	HP:0000960	Sacral dimple
1487	CTBP1	HP:0000939	Osteoporosis
1487	CTBP1	HP:0000286	Epicanthus
1487	CTBP1	HP:0000288	Abnormality of the philtrum
1487	CTBP1	HP:0000278	Retrognathia
1487	CTBP1	HP:0000268	Dolichocephaly
1487	CTBP1	HP:0002827	Hip dislocation
1487	CTBP1	HP:0002808	Kyphosis
1487	CTBP1	HP:0000238	Hydrocephalus
1487	CTBP1	HP:0000252	Microcephaly
1487	CTBP1	HP:0000218	High palate
1487	CTBP1	HP:0001558	Decreased fetal movement
1487	CTBP1	HP:0000202	Orofacial cleft
1487	CTBP1	HP:0000204	Cleft upper lip
1487	CTBP1	HP:0001508	Failure to thrive
1487	CTBP1	HP:0001519	Disproportionate tall stature
1487	CTBP1	HP:0001518	Small for gestational age
1487	CTBP1	HP:0001511	Intrauterine growth retardation
1487	CTBP1	HP:0001510	Growth delay
1487	CTBP1	HP:0000384	Preauricular skin tag
1487	CTBP1	HP:0000377	Abnormal pinna morphology
1487	CTBP1	HP:0000389	Chronic otitis media
1487	CTBP1	HP:0005264	Abnormality of the gallbladder
1487	CTBP1	HP:0002948	Vertebral fusion
1487	CTBP1	HP:0000365	Hearing impairment
1487	CTBP1	HP:0000368	Low-set, posteriorly rotated ears
1487	CTBP1	HP:0001671	Abnormal cardiac septum morphology
1487	CTBP1	HP:0000348	High forehead
1487	CTBP1	HP:0000347	Micrognathia
1487	CTBP1	HP:0000316	Hypertelorism
1487	CTBP1	HP:0002974	Radioulnar synostosis
1487	CTBP1	HP:0001654	Abnormal heart valve morphology
1487	CTBP1	HP:0000322	Short philtrum
1487	CTBP1	HP:0001629	Ventricular septal defect
1487	CTBP1	HP:0001631	Atrial septal defect
1487	CTBP1	HP:0006655	Rib segmentation abnormalities
1487	CTBP1	HP:0000407	Sensorineural hearing impairment
1487	CTBP1	HP:0000405	Conductive hearing impairment
1487	CTBP1	HP:0000402	Stenosis of the external auditory canal
1487	CTBP1	HP:0000486	Strabismus
1487	CTBP1	HP:0000485	Megalocornea
1487	CTBP1	HP:0000494	Downslanted palpebral fissures
1487	CTBP1	HP:0000490	Deeply set eye
1487	CTBP1	HP:0000488	Retinopathy
1487	CTBP1	HP:0000465	Webbed neck
1487	CTBP1	HP:0000444	Convex nasal ridge
1487	CTBP1	HP:0001747	Accessory spleen
1487	CTBP1	HP:0001760	Abnormal foot morphology
1487	CTBP1	HP:0001762	Talipes equinovarus
1487	CTBP1	HP:0000431	Wide nasal bridge
1487	CTBP1	HP:0006703	Aplasia/Hypoplasia of the lungs
1487	CTBP1	HP:0006709	Aplasia/Hypoplasia of the nipples
1487	CTBP1	HP:0001841	Preaxial foot polydactyly
1487	CTBP1	HP:0001840	Metatarsus adductus
1487	CTBP1	HP:0000520	Proptosis
1487	CTBP1	HP:0000508	Ptosis
1487	CTBP1	HP:0001812	Hyperconvex fingernails
1487	CTBP1	HP:0000558	Rieger anomaly
1490	CCN2	HP:0100958	Narrow foramen obturatorium
1490	CCN2	HP:0000083	Renal insufficiency
1490	CCN2	HP:0001371	Flexion contracture
1490	CCN2	HP:0001369	Arthritis
1490	CCN2	HP:0001324	Muscle weakness
1490	CCN2	HP:0002797	Osteolysis
1490	CCN2	HP:0002024	Malabsorption
1490	CCN2	HP:0002020	Gastroesophageal reflux
1490	CCN2	HP:0002017	Nausea and vomiting
1490	CCN2	HP:0002015	Dysphagia
1490	CCN2	HP:0002094	Dyspnea
1490	CCN2	HP:0002092	Pulmonary arterial hypertension
1490	CCN2	HP:0100520	Oliguria
1490	CCN2	HP:0100585	Telangiectasia of the skin
1490	CCN2	HP:0100579	Mucosal telangiectasiae
1490	CCN2	HP:0009473	Joint contracture of the hand
1490	CCN2	HP:0002113	Pulmonary infiltrates
1490	CCN2	HP:0002206	Pulmonary fibrosis
1490	CCN2	HP:0100735	Hypertensive crisis
1490	CCN2	HP:0008366	Foot joint contracture
1490	CCN2	HP:0001053	Hypopigmented skin patches
1490	CCN2	HP:0001000	Abnormality of skin pigmentation
1490	CCN2	HP:0200042	Skin ulcer
1490	CCN2	HP:0000670	Carious teeth
1490	CCN2	HP:0000951	Abnormality of the skin
1490	CCN2	HP:0002829	Arthralgia
1490	CCN2	HP:0000217	Xerostomia
1490	CCN2	HP:0030016	Dyspareunia
1490	CCN2	HP:0030142	Abnormal bowel sounds
1490	CCN2	HP:0002960	Autoimmunity
1490	CCN2	HP:0001635	Congestive heart failure
1491	CTH	HP:0008572	External ear malformation
1491	CTH	HP:0001250	Seizure
1491	CTH	HP:0001249	Intellectual disability
1491	CTH	HP:0000007	Autosomal recessive inheritance
1491	CTH	HP:0001337	Tremor
1491	CTH	HP:0000787	Nephrolithiasis
1491	CTH	HP:0003153	Cystathioninuria
1491	CTH	HP:0003286	Cystathioninemia
1491	CTH	HP:0001762	Talipes equinovarus
1493	CTLA4	HP:0003765	Psoriasiform dermatitis
1493	CTLA4	HP:0032216	Lymphocytic infiltration of the colorectal mucosa
1493	CTLA4	HP:0100806	Sepsis
1493	CTLA4	HP:0100820	Glomerulopathy
1493	CTLA4	HP:0001287	Meningitis
1493	CTLA4	HP:0002582	Atrophic gastritis
1493	CTLA4	HP:0001250	Seizure
1493	CTLA4	HP:0007400	Irregular hyperpigmentation
1493	CTLA4	HP:0003829	Typified by incomplete penetrance
1493	CTLA4	HP:0000083	Renal insufficiency
1493	CTLA4	HP:0000093	Proteinuria
1493	CTLA4	HP:0000071	Ureteral stenosis
1493	CTLA4	HP:0001369	Arthritis
1493	CTLA4	HP:0000024	Prostatitis
1493	CTLA4	HP:0033726	Lupus nephritis
1493	CTLA4	HP:0025300	Malar rash
1493	CTLA4	HP:0002665	Lymphoma
1493	CTLA4	HP:0001337	Tremor
1493	CTLA4	HP:0000006	Autosomal dominant inheritance
1493	CTLA4	HP:0002637	Cerebral ischemia
1493	CTLA4	HP:0002633	Vasculitis
1493	CTLA4	HP:0012192	Cutaneous T-cell lymphoma
1493	CTLA4	HP:0000163	Abnormal oral cavity morphology
1493	CTLA4	HP:0000123	Nephritis
1493	CTLA4	HP:0002783	Recurrent lower respiratory tract infections
1493	CTLA4	HP:0002788	Recurrent upper respiratory tract infections
1493	CTLA4	HP:0000126	Hydronephrosis
1493	CTLA4	HP:0002716	Lymphadenopathy
1493	CTLA4	HP:0002725	Systemic lupus erythematosus
1493	CTLA4	HP:0002720	Decreased circulating IgA level
1493	CTLA4	HP:0002721	Immunodeficiency
1493	CTLA4	HP:0002017	Nausea and vomiting
1493	CTLA4	HP:0002027	Abdominal pain
1493	CTLA4	HP:0003326	Myalgia
1493	CTLA4	HP:0002014	Diarrhea
1493	CTLA4	HP:0100533	Inflammatory abnormality of the eye
1493	CTLA4	HP:0100539	Periorbital edema
1493	CTLA4	HP:0002093	Respiratory insufficiency
1493	CTLA4	HP:0002091	Restrictive ventilatory defect
1493	CTLA4	HP:0002102	Pleuritis
1493	CTLA4	HP:0002103	Abnormal pleura morphology
1493	CTLA4	HP:0002113	Pulmonary infiltrates
1493	CTLA4	HP:0002110	Bronchiectasis
1493	CTLA4	HP:0002105	Hemoptysis
1493	CTLA4	HP:0003493	Antinuclear antibody positivity
1493	CTLA4	HP:0002240	Hepatomegaly
1493	CTLA4	HP:0002239	Gastrointestinal hemorrhage
1493	CTLA4	HP:0003565	Elevated erythrocyte sedimentation rate
1493	CTLA4	HP:0002205	Recurrent respiratory infections
1493	CTLA4	HP:0002206	Pulmonary fibrosis
1493	CTLA4	HP:0008404	Nail dystrophy
1493	CTLA4	HP:0010701	Abnormal immunoglobulin level
1493	CTLA4	HP:0100725	Lichenification
1493	CTLA4	HP:0100749	Chest pain
1493	CTLA4	HP:0100758	Gangrene
1493	CTLA4	HP:0001053	Hypopigmented skin patches
1493	CTLA4	HP:0001029	Poikiloderma
1493	CTLA4	HP:0001019	Erythroderma
1493	CTLA4	HP:0002315	Headache
1493	CTLA4	HP:0200035	Skin plaque
1493	CTLA4	HP:0200034	Papule
1493	CTLA4	HP:0009830	Peripheral neuropathy
1493	CTLA4	HP:0200042	Skin ulcer
1493	CTLA4	HP:0010783	Erythema
1493	CTLA4	HP:0002301	Hemiplegia
1493	CTLA4	HP:0004936	Venous thrombosis
1493	CTLA4	HP:0003613	Antiphospholipid antibody positivity
1493	CTLA4	HP:0006824	Cranial nerve paralysis
1493	CTLA4	HP:0005561	Abnormality of bone marrow cell morphology
1493	CTLA4	HP:0001973	Autoimmune thrombocytopenia
1493	CTLA4	HP:0001945	Fever
1493	CTLA4	HP:0012649	Increased inflammatory response
1493	CTLA4	HP:0000656	Ectropion
1493	CTLA4	HP:0001999	Abnormal facial shape
1493	CTLA4	HP:0004315	Decreased circulating IgG level
1493	CTLA4	HP:0004332	Abnormal lymphocyte morphology
1493	CTLA4	HP:0004313	Decreased circulating antibody level
1493	CTLA4	HP:0012735	Cough
1493	CTLA4	HP:0000763	Sensory neuropathy
1493	CTLA4	HP:0000709	Psychosis
1493	CTLA4	HP:0000790	Hematuria
1493	CTLA4	HP:0000873	Diabetes insipidus
1493	CTLA4	HP:0000872	Hashimoto thyroiditis
1493	CTLA4	HP:0000864	Abnormality of the hypothalamus-pituitary axis
1493	CTLA4	HP:0000822	Hypertension
1493	CTLA4	HP:0003202	Skeletal muscle atrophy
1493	CTLA4	HP:0000979	Purpura
1493	CTLA4	HP:0000992	Cutaneous photosensitivity
1493	CTLA4	HP:0100280	Crohn's disease
1493	CTLA4	HP:0000989	Pruritus
1493	CTLA4	HP:0000988	Skin rash
1493	CTLA4	HP:0000982	Palmoplantar keratoderma
1493	CTLA4	HP:0000958	Dry skin
1493	CTLA4	HP:0000969	Edema
1493	CTLA4	HP:0000964	Eczema
1493	CTLA4	HP:0000962	Hyperkeratosis
1493	CTLA4	HP:0008069	Neoplasm of the skin
1493	CTLA4	HP:0011675	Arrhythmia
1493	CTLA4	HP:0001597	Abnormality of the nail
1493	CTLA4	HP:0001596	Alopecia
1493	CTLA4	HP:0000271	Abnormality of the face
1493	CTLA4	HP:0030057	Autoimmune antibody positivity
1493	CTLA4	HP:0002829	Arthralgia
1493	CTLA4	HP:0000246	Sinusitis
1493	CTLA4	HP:0002850	Decreased circulating total IgM
1493	CTLA4	HP:0006510	Chronic pulmonary obstruction
1493	CTLA4	HP:0012393	Allergy
1493	CTLA4	HP:0012378	Fatigue
1493	CTLA4	HP:0000389	Chronic otitis media
1493	CTLA4	HP:0000388	Otitis media
1493	CTLA4	HP:0005214	Intestinal obstruction
1493	CTLA4	HP:0006535	Recurrent intrapulmonary hemorrhage
1493	CTLA4	HP:0000366	Abnormality of the nose
1493	CTLA4	HP:0001681	Angina pectoris
1493	CTLA4	HP:0002960	Autoimmunity
1493	CTLA4	HP:0002955	Granulomatosis
1493	CTLA4	HP:0000407	Sensorineural hearing impairment
1493	CTLA4	HP:0001733	Pancreatitis
1493	CTLA4	HP:0001701	Pericarditis
1493	CTLA4	HP:0000492	Abnormal eyelid morphology
1493	CTLA4	HP:0000488	Retinopathy
1493	CTLA4	HP:0001744	Splenomegaly
1493	CTLA4	HP:0000421	Epistaxis
1493	CTLA4	HP:0000520	Proptosis
1493	CTLA4	HP:0001824	Weight loss
1493	CTLA4	HP:0000505	Visual impairment
1493	CTLA4	HP:0011227	Elevated circulating C-reactive protein concentration
1493	CTLA4	HP:0001890	Autoimmune hemolytic anemia
1493	CTLA4	HP:0001888	Lymphopenia
1493	CTLA4	HP:0001882	Leukopenia
1493	CTLA4	HP:0001878	Hemolytic anemia
1493	CTLA4	HP:0001873	Thrombocytopenia
1495	CTNNA1	HP:0000006	Autosomal dominant inheritance
1495	CTNNA1	HP:0011510	Drusen
1495	CTNNA1	HP:0008001	Foveal hyperpigmentation
1496	CTNNA2	HP:0010864	Intellectual disability, severe
1496	CTNNA2	HP:0001290	Generalized hypotonia
1496	CTNNA2	HP:0001250	Seizure
1496	CTNNA2	HP:0001251	Ataxia
1496	CTNNA2	HP:0001263	Global developmental delay
1496	CTNNA2	HP:0002540	Inability to walk
1496	CTNNA2	HP:0002510	Spastic tetraplegia
1496	CTNNA2	HP:0001347	Hyperreflexia
1496	CTNNA2	HP:0001344	Absent speech
1496	CTNNA2	HP:0000007	Autosomal recessive inheritance
1496	CTNNA2	HP:0001302	Pachygyria
1496	CTNNA2	HP:0001321	Cerebellar hypoplasia
1496	CTNNA2	HP:0002079	Hypoplasia of the corpus callosum
1496	CTNNA2	HP:0002365	Hypoplasia of the brainstem
1496	CTNNA2	HP:0002353	EEG abnormality
1496	CTNNA2	HP:0011344	Severe global developmental delay
1496	CTNNA2	HP:0005484	Secondary microcephaly
1497	CTNS	HP:0003774	Stage 5 chronic kidney disease
1497	CTNS	HP:0001250	Seizure
1497	CTNS	HP:0001249	Intellectual disability
1497	CTNS	HP:0001263	Global developmental delay
1497	CTNS	HP:0002514	Cerebral calcification
1497	CTNS	HP:0002500	Abnormal cerebral white matter morphology
1497	CTNS	HP:0000083	Renal insufficiency
1497	CTNS	HP:0000093	Proteinuria
1497	CTNS	HP:0000026	Male hypogonadism
1497	CTNS	HP:0000007	Autosomal recessive inheritance
1497	CTNS	HP:0007663	Reduced visual acuity
1497	CTNS	HP:0000117	Renal phosphate wasting
1497	CTNS	HP:0000114	Proximal tubulopathy
1497	CTNS	HP:0000124	Renal tubular dysfunction
1497	CTNS	HP:0000103	Polyuria
1497	CTNS	HP:0002750	Delayed skeletal maturation
1497	CTNS	HP:0002748	Rickets
1497	CTNS	HP:0003355	Aminoaciduria
1497	CTNS	HP:0002019	Constipation
1497	CTNS	HP:0003358	Elevated intracellular cystine
1497	CTNS	HP:0002015	Dysphagia
1497	CTNS	HP:0002013	Vomiting
1497	CTNS	HP:0002007	Frontal bossing
1497	CTNS	HP:0100543	Cognitive impairment
1497	CTNS	HP:0002059	Cerebral atrophy
1497	CTNS	HP:0100512	Low levels of vitamin D
1497	CTNS	HP:0100511	Abnormality of vitamin D metabolism
1497	CTNS	HP:0003472	Hypocalcemic tetany
1497	CTNS	HP:0002148	Hypophosphatemia
1497	CTNS	HP:0003593	Infantile onset
1497	CTNS	HP:0002240	Hepatomegaly
1497	CTNS	HP:0003537	Hypouricemia
1497	CTNS	HP:0200136	Oral-pharyngeal dysphagia
1497	CTNS	HP:0010639	Elevated alkaline phosphatase of bone origin
1497	CTNS	HP:0011968	Feeding difficulties
1497	CTNS	HP:0002344	Progressive neurologic deterioration
1497	CTNS	HP:0001010	Hypopigmentation of the skin
1497	CTNS	HP:0200026	Ocular pain
1497	CTNS	HP:0003621	Juvenile onset
1497	CTNS	HP:0004918	Hyperchloremic metabolic acidosis
1497	CTNS	HP:0004912	Hypophosphatemic rickets
1497	CTNS	HP:0004911	Episodic metabolic acidosis
1497	CTNS	HP:0005599	Hypopigmentation of hair
1497	CTNS	HP:0012622	Chronic kidney disease
1497	CTNS	HP:0001969	Abnormal tubulointerstitial morphology
1497	CTNS	HP:0000618	Blindness
1497	CTNS	HP:0000613	Photophobia
1497	CTNS	HP:0001944	Dehydration
1497	CTNS	HP:0001942	Metabolic acidosis
1497	CTNS	HP:0001941	Acidosis
1497	CTNS	HP:0001959	Polydipsia
1497	CTNS	HP:0011314	Abnormal long bone morphology
1497	CTNS	HP:0001994	Renal Fanconi syndrome
1497	CTNS	HP:0004322	Short stature
1497	CTNS	HP:0031969	Reduced blood urea nitrogen
1497	CTNS	HP:0003076	Glycosuria
1497	CTNS	HP:0004396	Poor appetite
1497	CTNS	HP:0003016	Metaphyseal widening
1497	CTNS	HP:0011462	Young adult onset
1497	CTNS	HP:0000790	Hematuria
1497	CTNS	HP:0000787	Nephrolithiasis
1497	CTNS	HP:0003111	Abnormal blood ion concentration
1497	CTNS	HP:0003109	Hyperphosphaturia
1497	CTNS	HP:0003126	Low-molecular-weight proteinuria
1497	CTNS	HP:0003198	Myopathy
1497	CTNS	HP:0000832	Primary hypothyroidism
1497	CTNS	HP:0000819	Diabetes mellitus
1497	CTNS	HP:0000821	Hypothyroidism
1497	CTNS	HP:0000823	Delayed puberty
1497	CTNS	HP:0000897	Rachitic rosary
1497	CTNS	HP:0003234	Decreased plasma carnitine
1497	CTNS	HP:0003202	Skeletal muscle atrophy
1497	CTNS	HP:0003251	Male infertility
1497	CTNS	HP:0003259	Elevated circulating creatinine concentration
1497	CTNS	HP:0000966	Hypohidrosis
1497	CTNS	HP:0032639	Elevated leukocyte cystine
1497	CTNS	HP:0001531	Failure to thrive in infancy
1497	CTNS	HP:0002857	Genu valgum
1497	CTNS	HP:0001508	Failure to thrive
1497	CTNS	HP:0001507	Growth abnormality
1497	CTNS	HP:0001510	Growth delay
1497	CTNS	HP:0007814	Retinal pigment epithelial mottling
1497	CTNS	HP:0030190	Oral motor hypotonia
1497	CTNS	HP:0002917	Hypomagnesemia
1497	CTNS	HP:0002926	Abnormality of thyroid physiology
1497	CTNS	HP:0002909	Generalized aminoaciduria
1497	CTNS	HP:0002907	Microscopic hematuria
1497	CTNS	HP:0002902	Hyponatremia
1497	CTNS	HP:0002900	Hypokalemia
1497	CTNS	HP:0002901	Hypocalcemia
1497	CTNS	HP:0001738	Exocrine pancreatic insufficiency
1497	CTNS	HP:0000481	Abnormal cornea morphology
1497	CTNS	HP:0000479	Abnormal retinal morphology
1497	CTNS	HP:0000495	Recurrent corneal erosions
1497	CTNS	HP:0000488	Retinopathy
1497	CTNS	HP:0011106	Hypovolemia
1497	CTNS	HP:0012408	Medullary nephrocalcinosis
1497	CTNS	HP:0001744	Splenomegaly
1497	CTNS	HP:0012598	Abnormal urine potassium concentration
1497	CTNS	HP:0001824	Weight loss
1497	CTNS	HP:0000505	Visual impairment
1497	CTNS	HP:0000580	Pigmentary retinopathy
1497	CTNS	HP:0000531	Corneal crystals
1499	CTNNB1	HP:0025134	Increased serum estradiol
1499	CTNNB1	HP:0002465	Poor speech
1499	CTNNB1	HP:0001141	Severely reduced visual acuity
1499	CTNNB1	HP:0001117	Sudden loss of visual acuity
1499	CTNNB1	HP:0010935	Abnormality of the upper urinary tract
1499	CTNNB1	HP:0010939	Abnormal nasal bone morphology
1499	CTNNB1	HP:0025160	Abnormal temper tantrums
1499	CTNNB1	HP:0033559	Anti-myeloperoxidase antibody positivity
1499	CTNNB1	HP:0025269	Panic attack
1499	CTNNB1	HP:0100806	Sepsis
1499	CTNNB1	HP:0001270	Motor delay
1499	CTNNB1	HP:0100832	Vitreous floaters
1499	CTNNB1	HP:0001256	Intellectual disability, mild
1499	CTNNB1	HP:0001250	Seizure
1499	CTNNB1	HP:0001252	Hypotonia
1499	CTNNB1	HP:0001249	Intellectual disability
1499	CTNNB1	HP:0001264	Spastic diplegia
1499	CTNNB1	HP:0002591	Polyphagia
1499	CTNNB1	HP:0001263	Global developmental delay
1499	CTNNB1	HP:0001262	Excessive daytime somnolence
1499	CTNNB1	HP:0001257	Spasticity
1499	CTNNB1	HP:0001259	Coma
1499	CTNNB1	HP:0002516	Increased intracranial pressure
1499	CTNNB1	HP:0002514	Cerebral calcification
1499	CTNNB1	HP:0003829	Typified by incomplete penetrance
1499	CTNNB1	HP:0000080	Abnormality of reproductive system physiology
1499	CTNNB1	HP:0025380	Increased circulating androstenedione concentration
1499	CTNNB1	HP:0001395	Hepatic fibrosis
1499	CTNNB1	HP:0000044	Hypogonadotropic hypogonadism
1499	CTNNB1	HP:0001376	Limitation of joint mobility
1499	CTNNB1	HP:0012030	Increased urinary cortisol level
1499	CTNNB1	HP:0025336	Delayed ability to sit
1499	CTNNB1	HP:0008897	Postnatal growth retardation
1499	CTNNB1	HP:0002659	Increased susceptibility to fractures
1499	CTNNB1	HP:0001324	Muscle weakness
1499	CTNNB1	HP:0000007	Autosomal recessive inheritance
1499	CTNNB1	HP:0000006	Autosomal dominant inheritance
1499	CTNNB1	HP:0002637	Cerebral ischemia
1499	CTNNB1	HP:0002650	Scoliosis
1499	CTNNB1	HP:0002605	Hepatic necrosis
1499	CTNNB1	HP:0001493	Falciform retinal fold
1499	CTNNB1	HP:0025436	Elevated serum 11-deoxycortisol
1499	CTNNB1	HP:0000135	Hypogonadism
1499	CTNNB1	HP:0002797	Osteolysis
1499	CTNNB1	HP:0001482	Subcutaneous nodule
1499	CTNNB1	HP:0007685	Peripheral retinal avascularization
1499	CTNNB1	HP:0007663	Reduced visual acuity
1499	CTNNB1	HP:0410019	Epigastric pain
1499	CTNNB1	HP:0008936	Axial hypotonia
1499	CTNNB1	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
1499	CTNNB1	HP:0006254	Elevated circulating alpha-fetoprotein concentration
1499	CTNNB1	HP:0000126	Hydronephrosis
1499	CTNNB1	HP:0001428	Somatic mutation
1499	CTNNB1	HP:0001402	Hepatocellular carcinoma
1499	CTNNB1	HP:0001413	Micronodular cirrhosis
1499	CTNNB1	HP:0002719	Recurrent infections
1499	CTNNB1	HP:0002024	Malabsorption
1499	CTNNB1	HP:0002017	Nausea and vomiting
1499	CTNNB1	HP:0002027	Abdominal pain
1499	CTNNB1	HP:0003326	Myalgia
1499	CTNNB1	HP:0002015	Dysphagia
1499	CTNNB1	HP:0002013	Vomiting
1499	CTNNB1	HP:0005978	Type II diabetes mellitus
1499	CTNNB1	HP:0003396	Syringomyelia
1499	CTNNB1	HP:0002079	Hypoplasia of the corpus callosum
1499	CTNNB1	HP:0011748	Adrenocorticotropic hormone deficiency
1499	CTNNB1	HP:0011750	Neoplasm of the anterior pituitary
1499	CTNNB1	HP:0011734	Central adrenal insufficiency
1499	CTNNB1	HP:0033128	Delayed ability to crawl
1499	CTNNB1	HP:0002144	Tethered cord
1499	CTNNB1	HP:0002119	Ventriculomegaly
1499	CTNNB1	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
1499	CTNNB1	HP:0002188	Delayed CNS myelination
1499	CTNNB1	HP:0002191	Progressive spasticity
1499	CTNNB1	HP:0008245	Pituitary hypothyroidism
1499	CTNNB1	HP:0010535	Sleep apnea
1499	CTNNB1	HP:0010576	Intracranial cystic lesion
1499	CTNNB1	HP:0003593	Infantile onset
1499	CTNNB1	HP:0002240	Hepatomegaly
1499	CTNNB1	HP:0002239	Gastrointestinal hemorrhage
1499	CTNNB1	HP:0100716	Self-injurious behavior
1499	CTNNB1	HP:0100749	Chest pain
1499	CTNNB1	HP:0011968	Feeding difficulties
1499	CTNNB1	HP:0010614	Fibroma
1499	CTNNB1	HP:0430000	Abnormal frontal bone morphology
1499	CTNNB1	HP:0003508	Proportionate short stature
1499	CTNNB1	HP:0001065	Striae distensae
1499	CTNNB1	HP:0002360	Sleep disturbance
1499	CTNNB1	HP:0002376	Developmental regression
1499	CTNNB1	HP:0001004	Lymphedema
1499	CTNNB1	HP:0002321	Vertigo
1499	CTNNB1	HP:0002315	Headache
1499	CTNNB1	HP:0200008	Intestinal polyposis
1499	CTNNB1	HP:0100621	Dysgerminoma
1499	CTNNB1	HP:0001085	Papilledema
1499	CTNNB1	HP:0010766	Ectopic calcification
1499	CTNNB1	HP:0009765	Low hanging columella
1499	CTNNB1	HP:0003623	Neonatal onset
1499	CTNNB1	HP:0003621	Juvenile onset
1499	CTNNB1	HP:0030503	Macular telangiectasia
1499	CTNNB1	HP:0030521	Bitemporal hemianopia
1499	CTNNB1	HP:0004298	Abnormality of the abdominal wall
1499	CTNNB1	HP:0005584	Renal cell carcinoma
1499	CTNNB1	HP:0000639	Nystagmus
1499	CTNNB1	HP:0001962	Palpitations
1499	CTNNB1	HP:0000648	Optic atrophy
1499	CTNNB1	HP:0000618	Blindness
1499	CTNNB1	HP:0001939	Abnormality of metabolism/homeostasis
1499	CTNNB1	HP:0030490	Exudative vitreoretinopathy
1499	CTNNB1	HP:0030496	Macular exudate
1499	CTNNB1	HP:0011342	Mild global developmental delay
1499	CTNNB1	HP:0001999	Abnormal facial shape
1499	CTNNB1	HP:0004324	Increased body weight
1499	CTNNB1	HP:0003002	Breast carcinoma
1499	CTNNB1	HP:0030666	Retinal neovascularization
1499	CTNNB1	HP:0003011	Abnormality of the musculature
1499	CTNNB1	HP:0031936	Delayed ability to walk
1499	CTNNB1	HP:0004349	Reduced bone mineral density
1499	CTNNB1	HP:0100014	Epiretinal membrane
1499	CTNNB1	HP:0000737	Irritability
1499	CTNNB1	HP:0000739	Anxiety
1499	CTNNB1	HP:0000742	Self-mutilation
1499	CTNNB1	HP:0000718	Aggressive behavior
1499	CTNNB1	HP:0000711	Restlessness
1499	CTNNB1	HP:0000729	Autistic behavior
1499	CTNNB1	HP:0000708	Atypical behavior
1499	CTNNB1	HP:0030588	Abnormal visual field test
1499	CTNNB1	HP:0012795	Abnormal optic disc morphology
1499	CTNNB1	HP:0011451	Primary microcephaly
1499	CTNNB1	HP:0003110	Abnormality of urine homeostasis
1499	CTNNB1	HP:0003118	Increased circulating cortisol level
1499	CTNNB1	HP:0011530	Retinal hole
1499	CTNNB1	HP:0000859	Hyperaldosteronism
1499	CTNNB1	HP:0000870	Increased circulating prolactin concentration
1499	CTNNB1	HP:0000863	Central diabetes insipidus
1499	CTNNB1	HP:0000819	Diabetes mellitus
1499	CTNNB1	HP:0000822	Hypertension
1499	CTNNB1	HP:0000823	Delayed puberty
1499	CTNNB1	HP:0040049	Macular edema
1499	CTNNB1	HP:0040075	Hypopituitarism
1499	CTNNB1	HP:0000998	Hypertrichosis
1499	CTNNB1	HP:0000975	Hyperhidrosis
1499	CTNNB1	HP:0000989	Pruritus
1499	CTNNB1	HP:0100245	Desmoid tumors
1499	CTNNB1	HP:0008069	Neoplasm of the skin
1499	CTNNB1	HP:0008052	Retinal fold
1499	CTNNB1	HP:0007703	Abnormality of retinal pigmentation
1499	CTNNB1	HP:0012286	Abnormal hypothalamus morphology
1499	CTNNB1	HP:0012288	Neoplasm of head and neck
1499	CTNNB1	HP:0007773	Vitreoretinopathy
1499	CTNNB1	HP:0002829	Arthralgia
1499	CTNNB1	HP:0030078	Lung adenocarcinoma
1499	CTNNB1	HP:0012230	Rhegmatogenous retinal detachment
1499	CTNNB1	HP:0000238	Hydrocephalus
1499	CTNNB1	HP:0000252	Microcephaly
1499	CTNNB1	HP:0000219	Thin upper lip vermilion
1499	CTNNB1	HP:0000218	High palate
1499	CTNNB1	HP:0002891	Uterine leiomyosarcoma
1499	CTNNB1	HP:0002885	Medulloblastoma
1499	CTNNB1	HP:0001500	Broad finger
1499	CTNNB1	HP:0001518	Small for gestational age
1499	CTNNB1	HP:0001510	Growth delay
1499	CTNNB1	HP:0001513	Obesity
1499	CTNNB1	HP:0012378	Fatigue
1499	CTNNB1	HP:0031526	Subretinal fluid
1499	CTNNB1	HP:0006572	Subacute progressive viral hepatitis
1499	CTNNB1	HP:0005214	Intestinal obstruction
1499	CTNNB1	HP:0002900	Hypokalemia
1499	CTNNB1	HP:0000365	Hearing impairment
1499	CTNNB1	HP:0000343	Long philtrum
1499	CTNNB1	HP:0000319	Smooth philtrum
1499	CTNNB1	HP:0001658	Myocardial infarction
1499	CTNNB1	HP:0007924	Slow decrease in visual acuity
1499	CTNNB1	HP:0007917	Tractional retinal detachment
1499	CTNNB1	HP:0007902	Vitreous hemorrhage
1499	CTNNB1	HP:0007987	Progressive visual field defects
1499	CTNNB1	HP:0000486	Strabismus
1499	CTNNB1	HP:0000478	Abnormality of the eye
1499	CTNNB1	HP:0000455	Broad nasal tip
1499	CTNNB1	HP:0030242	Portal vein thrombosis
1499	CTNNB1	HP:0000430	Underdeveloped nasal alae
1499	CTNNB1	HP:0006753	Neoplasm of the stomach
1499	CTNNB1	HP:0006740	Transitional cell carcinoma of the bladder
1499	CTNNB1	HP:0006744	Adrenocortical carcinoma
1499	CTNNB1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
1499	CTNNB1	HP:0030434	Pilomatrixoma
1499	CTNNB1	HP:0006774	Ovarian papillary adenocarcinoma
1499	CTNNB1	HP:0012505	Enlarged pituitary gland
1499	CTNNB1	HP:0000518	Cataract
1499	CTNNB1	HP:0001824	Weight loss
1499	CTNNB1	HP:0030348	Increased circulating androgen concentration
1499	CTNNB1	HP:0000568	Microphthalmia
1499	CTNNB1	HP:0000541	Retinal detachment
1499	CTNNB1	HP:0000540	Hypermetropia
1499	CTNNB1	HP:0000533	Chorioretinal atrophy
1499	CTNNB1	HP:0000546	Retinal degeneration
1499	CTNNB1	HP:0000545	Myopia
1500	CTNND1	HP:0006101	Finger syndactyly
1500	CTNND1	HP:0000006	Autosomal dominant inheritance
1500	CTNND1	HP:0007651	Ectropion of lower eyelids
1500	CTNND1	HP:0410030	Cleft lip
1500	CTNND1	HP:0002744	Bilateral cleft lip and palate
1500	CTNND1	HP:0002023	Anal atresia
1500	CTNND1	HP:0002164	Nail dysplasia
1500	CTNND1	HP:0009743	Distichiasis
1500	CTNND1	HP:0009804	Tooth agenesis
1500	CTNND1	HP:0200040	Epidermoid cyst
1500	CTNND1	HP:0011362	Abnormal hair quantity
1500	CTNND1	HP:0000698	Conical tooth
1500	CTNND1	HP:0000670	Carious teeth
1500	CTNND1	HP:0012725	Cutaneous syndactyly
1500	CTNND1	HP:0012905	Euryblepharon
1500	CTNND1	HP:0030001	Lagophthalmos
1500	CTNND1	HP:0012368	Flat face
1500	CTNND1	HP:0000348	High forehead
1500	CTNND1	HP:0000316	Hypertelorism
1500	CTNND1	HP:0000324	Facial asymmetry
1500	CTNND1	HP:0000405	Conductive hearing impairment
1500	CTNND1	HP:0000478	Abnormality of the eye
1500	CTNND1	HP:0000492	Abnormal eyelid morphology
1500	CTNND1	HP:0000504	Abnormality of vision
1501	CTNND2	HP:0010864	Intellectual disability, severe
1501	CTNND2	HP:0001252	Hypotonia
1501	CTNND2	HP:0001249	Intellectual disability
1501	CTNND2	HP:0006101	Finger syndactyly
1501	CTNND2	HP:0007359	Focal-onset seizure
1501	CTNND2	HP:0000023	Inguinal hernia
1501	CTNND2	HP:0001336	Myoclonus
1501	CTNND2	HP:0002650	Scoliosis
1501	CTNND2	HP:0002757	Recurrent fractures
1501	CTNND2	HP:0100576	Amaurosis fugax
1501	CTNND2	HP:0002197	Generalized-onset seizure
1501	CTNND2	HP:0002378	Hand tremor
1501	CTNND2	HP:0002353	EEG abnormality
1501	CTNND2	HP:0002315	Headache
1501	CTNND2	HP:0200046	Cat cry
1501	CTNND2	HP:0200055	Small hand
1501	CTNND2	HP:0011344	Severe global developmental delay
1501	CTNND2	HP:0004322	Short stature
1501	CTNND2	HP:0030680	Abnormality of cardiovascular system morphology
1501	CTNND2	HP:0005692	Joint hyperflexibility
1501	CTNND2	HP:0004348	Abnormality of bone mineral density
1501	CTNND2	HP:0000286	Epicanthus
1501	CTNND2	HP:0000252	Microcephaly
1501	CTNND2	HP:0000218	High palate
1501	CTNND2	HP:0001511	Intrauterine growth retardation
1501	CTNND2	HP:0000384	Preauricular skin tag
1501	CTNND2	HP:0001608	Abnormality of the voice
1501	CTNND2	HP:0000368	Low-set, posteriorly rotated ears
1501	CTNND2	HP:0000316	Hypertelorism
1501	CTNND2	HP:0000311	Round face
1501	CTNND2	HP:0001620	High pitched voice
1501	CTNND2	HP:0000308	Microretrognathia
1501	CTNND2	HP:0000494	Downslanted palpebral fissures
1501	CTNND2	HP:0000470	Short neck
1501	CTNND2	HP:0000431	Wide nasal bridge
1503	CTPS1	HP:0032248	Persistent viremia
1503	CTPS1	HP:0410297	Partial absence of specific antibody response to tetanus vaccine
1503	CTPS1	HP:0000007	Autosomal recessive inheritance
1503	CTPS1	HP:0002721	Immunodeficiency
1503	CTPS1	HP:0033222	Decreased CD4:CD8 ratio
1503	CTPS1	HP:0008348	Decreased circulating IgG2 level
1503	CTPS1	HP:0011947	Respiratory tract infection
1503	CTPS1	HP:0032170	Severe varicella zoster infection
1503	CTPS1	HP:0005523	Lymphoproliferative disorder
1503	CTPS1	HP:4000039	Reduced proportion of mucosal-associated invariant T cells
1503	CTPS1	HP:0004315	Decreased circulating IgG level
1503	CTPS1	HP:0004429	Recurrent viral infections
1503	CTPS1	HP:0031402	Reduced antigen-specific T cell proliferation
1503	CTPS1	HP:0012476	Decreased specific pneumococcal antibody level
1503	CTPS1	HP:0030253	Defective T cell proliferation
1503	CTPS1	HP:0031691	Severe viral infection
1503	CTPS1	HP:0030374	Decreased proportion of memory B cells
1503	CTPS1	HP:0001888	Lymphopenia
1508	CTSB	HP:0007410	Palmoplantar hyperhidrosis
1508	CTSB	HP:0000006	Autosomal dominant inheritance
1508	CTSB	HP:0200039	Pustule
1508	CTSB	HP:0010783	Erythema
1508	CTSB	HP:0000975	Hyperhidrosis
1508	CTSB	HP:0000951	Abnormality of the skin
1509	CTSD	HP:0001171	Split hand
1509	CTSD	HP:0001105	Retinal atrophy
1509	CTSD	HP:0010864	Intellectual disability, severe
1509	CTSD	HP:0001272	Cerebellar atrophy
1509	CTSD	HP:0001268	Mental deterioration
1509	CTSD	HP:0001250	Seizure
1509	CTSD	HP:0001251	Ataxia
1509	CTSD	HP:0001257	Spasticity
1509	CTSD	HP:0002529	Neuronal loss in central nervous system
1509	CTSD	HP:0003811	Neonatal death
1509	CTSD	HP:0000007	Autosomal recessive inheritance
1509	CTSD	HP:0002093	Respiratory insufficiency
1509	CTSD	HP:0002063	Rigidity
1509	CTSD	HP:0003390	Sensory axonal neuropathy
1509	CTSD	HP:0002074	Increased neuronal autofluorescent lipopigment
1509	CTSD	HP:0002059	Cerebral atrophy
1509	CTSD	HP:0002133	Status epilepticus
1509	CTSD	HP:0002104	Apnea
1509	CTSD	HP:0003577	Congenital onset
1509	CTSD	HP:0003657	Granular osmiophilic deposits (GROD) in cells
1509	CTSD	HP:0006887	Intellectual disability, progressive
1509	CTSD	HP:0011463	Childhood onset
1509	CTSD	HP:0000252	Microcephaly
1509	CTSD	HP:0002878	Respiratory failure
1509	CTSD	HP:0000369	Low-set ears
1509	CTSD	HP:0000340	Sloping forehead
1509	CTSD	HP:0032794	Myoclonic seizure
1509	CTSD	HP:0000431	Wide nasal bridge
1509	CTSD	HP:0005458	Premature closure of fontanelles
1509	CTSD	HP:0000510	Rod-cone dystrophy
1509	CTSD	HP:0000572	Visual loss
1512	CTSH	HP:0002494	Abnormal rapid eye movement sleep
1512	CTSH	HP:0001279	Syncope
1512	CTSH	HP:0001262	Excessive daytime somnolence
1512	CTSH	HP:0002524	Cataplexy
1512	CTSH	HP:0001350	Slurred speech
1512	CTSH	HP:0010534	Transient global amnesia
1512	CTSH	HP:0002360	Sleep disturbance
1512	CTSH	HP:0000738	Hallucinations
1512	CTSH	HP:0001513	Obesity
1512	CTSH	HP:0000478	Abnormality of the eye
1512	CTSH	HP:0000504	Abnormality of vision
1513	CTSK	HP:0001156	Brachydactyly
1513	CTSK	HP:0002493	Upper motor neuron dysfunction
1513	CTSK	HP:0008598	Mild conductive hearing impairment
1513	CTSK	HP:0007266	Cerebral dysmyelination
1513	CTSK	HP:0010884	Acromelia
1513	CTSK	HP:0002516	Increased intracranial pressure
1513	CTSK	HP:0001388	Joint laxity
1513	CTSK	HP:0002688	Absent frontal sinuses
1513	CTSK	HP:0008873	Disproportionate short-limb short stature
1513	CTSK	HP:0002659	Increased susceptibility to fractures
1513	CTSK	HP:0000007	Autosomal recessive inheritance
1513	CTSK	HP:0002650	Scoliosis
1513	CTSK	HP:0002645	Wormian bones
1513	CTSK	HP:0000189	Narrow palate
1513	CTSK	HP:0008905	Rhizomelia
1513	CTSK	HP:0000164	Abnormality of the dentition
1513	CTSK	HP:0006335	Persistence of primary teeth
1513	CTSK	HP:0006297	Enamel hypoplasia
1513	CTSK	HP:0001433	Hepatosplenomegaly
1513	CTSK	HP:0002007	Frontal bossing
1513	CTSK	HP:0003307	Hyperlordosis
1513	CTSK	HP:0003304	Spondylolysis
1513	CTSK	HP:0003302	Spondylolisthesis
1513	CTSK	HP:0011800	Midface retrusion
1513	CTSK	HP:0100559	Lower limb asymmetry
1513	CTSK	HP:0005906	Delayed pneumatization of the mastoid process
1513	CTSK	HP:0002164	Nail dysplasia
1513	CTSK	HP:0009839	Osteolytic defects of the distal phalanges of the hand
1513	CTSK	HP:0200055	Small hand
1513	CTSK	HP:0002308	Chiari malformation
1513	CTSK	HP:0000696	Delayed eruption of permanent teeth
1513	CTSK	HP:0000680	Delayed eruption of primary teeth
1513	CTSK	HP:0011342	Mild global developmental delay
1513	CTSK	HP:0000689	Dental malocclusion
1513	CTSK	HP:0000670	Carious teeth
1513	CTSK	HP:0000668	Hypodontia
1513	CTSK	HP:0004322	Short stature
1513	CTSK	HP:0003027	Mesomelia
1513	CTSK	HP:0000707	Abnormality of the nervous system
1513	CTSK	HP:0000774	Narrow chest
1513	CTSK	HP:0004440	Coronal craniosynostosis
1513	CTSK	HP:0005789	Generalized osteosclerosis
1513	CTSK	HP:0004474	Persistent open anterior fontanelle
1513	CTSK	HP:0000889	Abnormal clavicle morphology
1513	CTSK	HP:0000824	Decreased response to growth hormone stimulation test
1513	CTSK	HP:0010307	Stridor
1513	CTSK	HP:0009381	Short finger
1513	CTSK	HP:0001597	Abnormality of the nail
1513	CTSK	HP:0000270	Delayed cranial suture closure
1513	CTSK	HP:0000269	Prominent occiput
1513	CTSK	HP:0002808	Kyphosis
1513	CTSK	HP:0000218	High palate
1513	CTSK	HP:0025502	Overweight
1513	CTSK	HP:0002870	Obstructive sleep apnea
1513	CTSK	HP:0002868	Narrow iliac wing
1513	CTSK	HP:0002866	Hypoplastic iliac wing
1513	CTSK	HP:0001511	Intrauterine growth retardation
1513	CTSK	HP:0001601	Laryngomalacia
1513	CTSK	HP:0011001	Increased bone mineral density
1513	CTSK	HP:0000347	Micrognathia
1513	CTSK	HP:0000327	Hypoplasia of the maxilla
1513	CTSK	HP:0006660	Aplastic clavicle
1513	CTSK	HP:0000486	Strabismus
1513	CTSK	HP:0001773	Short foot
1513	CTSK	HP:0000448	Prominent nose
1513	CTSK	HP:0000444	Convex nasal ridge
1513	CTSK	HP:0005446	Obtuse angle of mandible
1513	CTSK	HP:0000520	Proptosis
1513	CTSK	HP:0001807	Ridged nail
1513	CTSK	HP:0030353	Decreased serum insulin-like growth factor 1
1513	CTSK	HP:0000592	Blue sclerae
1513	CTSK	HP:0012532	Chronic pain
1513	CTSK	HP:0000539	Abnormality of refraction
1523	CUX1	HP:0001270	Motor delay
1523	CUX1	HP:0001252	Hypotonia
1523	CUX1	HP:0001249	Intellectual disability
1523	CUX1	HP:0001263	Global developmental delay
1523	CUX1	HP:0000047	Hypospadias
1523	CUX1	HP:0001357	Plagiocephaly
1523	CUX1	HP:0000006	Autosomal dominant inheritance
1523	CUX1	HP:0002007	Frontal bossing
1523	CUX1	HP:0003593	Infantile onset
1523	CUX1	HP:0007010	Poor fine motor coordination
1523	CUX1	HP:0100632	Pulmonary sequestration
1523	CUX1	HP:0000637	Long palpebral fissure
1523	CUX1	HP:0000601	Hypotelorism
1523	CUX1	HP:0000677	Oligodontia
1523	CUX1	HP:0004322	Short stature
1523	CUX1	HP:0006956	Lateral ventricle dilatation
1523	CUX1	HP:0000767	Pectus excavatum
1523	CUX1	HP:0000750	Delayed speech and language development
1523	CUX1	HP:0012704	Widened subarachnoid space
1523	CUX1	HP:0000276	Long face
1523	CUX1	HP:0000219	Thin upper lip vermilion
1523	CUX1	HP:0000369	Low-set ears
1523	CUX1	HP:0000337	Broad forehead
1523	CUX1	HP:0001643	Patent ductus arteriosus
1523	CUX1	HP:0001629	Ventricular septal defect
1523	CUX1	HP:0001631	Atrial septal defect
1523	CUX1	HP:0000414	Bulbous nose
1528	CYB5A	HP:0025118	Lip discoloration
1528	CYB5A	HP:0002451	Limb dystonia
1528	CYB5A	HP:0010864	Intellectual disability, severe
1528	CYB5A	HP:0001276	Hypertonia
1528	CYB5A	HP:0001272	Cerebellar atrophy
1528	CYB5A	HP:0001250	Seizure
1528	CYB5A	HP:0001263	Global developmental delay
1528	CYB5A	HP:0001257	Spasticity
1528	CYB5A	HP:0008726	Hypoplasia of the vagina
1528	CYB5A	HP:0008730	Female external genitalia in individual with 46,XY karyotype
1528	CYB5A	HP:0008734	Decreased testicular size
1528	CYB5A	HP:0008675	Enlarged polycystic ovaries
1528	CYB5A	HP:0002510	Spastic tetraplegia
1528	CYB5A	HP:0000062	Ambiguous genitalia
1528	CYB5A	HP:0012041	Decreased fertility in males
1528	CYB5A	HP:0000037	Male pseudohermaphroditism
1528	CYB5A	HP:0000054	Micropenis
1528	CYB5A	HP:0000048	Bifid scrotum
1528	CYB5A	HP:0000047	Hypospadias
1528	CYB5A	HP:0000033	Ambiguous genitalia, male
1528	CYB5A	HP:0000028	Cryptorchidism
1528	CYB5A	HP:0000013	Hypoplasia of the uterus
1528	CYB5A	HP:0000007	Autosomal recessive inheritance
1528	CYB5A	HP:0000144	Decreased fertility
1528	CYB5A	HP:0012119	Methemoglobinemia
1528	CYB5A	HP:0000147	Polycystic ovaries
1528	CYB5A	HP:0012112	Abnormal circulating corticosterone level
1528	CYB5A	HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate concentration
1528	CYB5A	HP:0002750	Delayed skeletal maturation
1528	CYB5A	HP:0008193	Primary gonadal insufficiency
1528	CYB5A	HP:0008187	Absence of secondary sex characteristics
1528	CYB5A	HP:0008232	Elevated circulating follicle stimulating hormone level
1528	CYB5A	HP:0008214	Decreased serum estradiol
1528	CYB5A	HP:0003577	Congenital onset
1528	CYB5A	HP:0002215	Sparse axillary hair
1528	CYB5A	HP:0002231	Sparse body hair
1528	CYB5A	HP:0002225	Sparse pubic hair
1528	CYB5A	HP:0002283	Global brain atrophy
1528	CYB5A	HP:0011969	Elevated circulating luteinizing hormone level
1528	CYB5A	HP:0100607	Dysmenorrhea
1528	CYB5A	HP:0007112	Temporal cortical atrophy
1528	CYB5A	HP:0002305	Athetosis
1528	CYB5A	HP:0006808	Cerebral hypomyelination
1528	CYB5A	HP:0012697	Small basal ganglia
1528	CYB5A	HP:0011344	Severe global developmental delay
1528	CYB5A	HP:0004322	Short stature
1528	CYB5A	HP:0006913	Frontal cortical atrophy
1528	CYB5A	HP:0004349	Reduced bone mineral density
1528	CYB5A	HP:0000771	Gynecomastia
1528	CYB5A	HP:0000707	Abnormality of the nervous system
1528	CYB5A	HP:0000786	Primary amenorrhea
1528	CYB5A	HP:0012853	Scrotal hypospadias
1528	CYB5A	HP:0000868	Decreased fertility in females
1528	CYB5A	HP:0000815	Hypergonadotropic hypogonadism
1528	CYB5A	HP:0000823	Delayed puberty
1528	CYB5A	HP:0000961	Cyanosis
1528	CYB5A	HP:0000939	Osteoporosis
1528	CYB5A	HP:0040171	Decreased serum testosterone concentration
1528	CYB5A	HP:0001597	Abnormality of the nail
1528	CYB5A	HP:0012244	Abnormal sex determination
1528	CYB5A	HP:0000252	Microcephaly
1528	CYB5A	HP:0002875	Exertional dyspnea
1528	CYB5A	HP:0001508	Failure to thrive
1528	CYB5A	HP:0001518	Small for gestational age
1528	CYB5A	HP:0012448	Delayed myelination
1528	CYB5A	HP:0030349	Decreased circulating androgen concentration
1528	CYB5A	HP:0000592	Blue sclerae
1528	CYB5A	HP:0000565	Esotropia
1534	CYB561	HP:0001278	Orthostatic hypotension
1534	CYB561	HP:0000007	Autosomal recessive inheritance
1534	CYB561	HP:0003593	Infantile onset
1534	CYB561	HP:0001943	Hypoglycemia
1534	CYB561	HP:0001903	Anemia
1534	CYB561	HP:0011463	Childhood onset
1534	CYB561	HP:0012213	Decreased glomerular filtration rate
1535	CYBA	HP:0100806	Sepsis
1535	CYBA	HP:0001287	Meningitis
1535	CYBA	HP:0002575	Tracheoesophageal fistula
1535	CYBA	HP:0007417	Discoid lupus rash
1535	CYBA	HP:0000007	Autosomal recessive inheritance
1535	CYBA	HP:0002754	Osteomyelitis
1535	CYBA	HP:0002740	Recurrent E. coli infections
1535	CYBA	HP:0002741	Recurrent Serratia marcescens infections
1535	CYBA	HP:0002742	Recurrent Klebsiella infections
1535	CYBA	HP:0002716	Lymphadenopathy
1535	CYBA	HP:0002726	Recurrent Staphylococcus aureus infections
1535	CYBA	HP:0002724	Recurrent Aspergillus infections
1535	CYBA	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes
1535	CYBA	HP:0002721	Immunodeficiency
1535	CYBA	HP:0002024	Malabsorption
1535	CYBA	HP:0002021	Pyloric stenosis
1535	CYBA	HP:0100523	Liver abscess
1535	CYBA	HP:0100533	Inflammatory abnormality of the eye
1535	CYBA	HP:0002240	Hepatomegaly
1535	CYBA	HP:0002205	Recurrent respiratory infections
1535	CYBA	HP:0100721	Mediastinal lymphadenopathy
1535	CYBA	HP:0003514	Deficiency or absence of cytochrome b(-245)
1535	CYBA	HP:0001034	Hypermelanotic macule
1535	CYBA	HP:0100658	Cellulitis
1535	CYBA	HP:0200042	Skin ulcer
1535	CYBA	HP:0003621	Juvenile onset
1535	CYBA	HP:0001945	Fever
1535	CYBA	HP:0012733	Macule
1535	CYBA	HP:0003206	Decreased activity of NADPH oxidase
1535	CYBA	HP:0003203	Impaired oxidative burst
1535	CYBA	HP:0000976	Eczematoid dermatitis
1535	CYBA	HP:0000992	Cutaneous photosensitivity
1535	CYBA	HP:0000964	Eczema
1535	CYBA	HP:0000246	Sinusitis
1535	CYBA	HP:0000230	Gingivitis
1535	CYBA	HP:0002840	Lymphadenitis
1535	CYBA	HP:0002842	Recurrent Burkholderia cepacia infections
1535	CYBA	HP:0006510	Chronic pulmonary obstruction
1535	CYBA	HP:0000388	Otitis media
1535	CYBA	HP:0005224	Rectal abscess
1535	CYBA	HP:0006532	Recurrent pneumonia
1535	CYBA	HP:0002955	Granulomatosis
1535	CYBA	HP:0001744	Splenomegaly
1535	CYBA	HP:0005406	Recurrent bacterial skin infections
1535	CYBA	HP:0001874	Abnormality of neutrophils
1536	CYBB	HP:0032252	Granuloma
1536	CYBB	HP:0032262	Pulmonary tuberculosis
1536	CYBB	HP:0100806	Sepsis
1536	CYBB	HP:0001287	Meningitis
1536	CYBB	HP:0002575	Tracheoesophageal fistula
1536	CYBB	HP:0007417	Discoid lupus rash
1536	CYBB	HP:0033662	Air bronchogram
1536	CYBB	HP:0002754	Osteomyelitis
1536	CYBB	HP:0002740	Recurrent E. coli infections
1536	CYBB	HP:0002741	Recurrent Serratia marcescens infections
1536	CYBB	HP:0001419	X-linked recessive inheritance
1536	CYBB	HP:0002742	Recurrent Klebsiella infections
1536	CYBB	HP:0002716	Lymphadenopathy
1536	CYBB	HP:0002726	Recurrent Staphylococcus aureus infections
1536	CYBB	HP:0002724	Recurrent Aspergillus infections
1536	CYBB	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes
1536	CYBB	HP:0002721	Immunodeficiency
1536	CYBB	HP:0002024	Malabsorption
1536	CYBB	HP:0002021	Pyloric stenosis
1536	CYBB	HP:0100523	Liver abscess
1536	CYBB	HP:0100533	Inflammatory abnormality of the eye
1536	CYBB	HP:0003593	Infantile onset
1536	CYBB	HP:0002240	Hepatomegaly
1536	CYBB	HP:0002202	Pleural effusion
1536	CYBB	HP:0002205	Recurrent respiratory infections
1536	CYBB	HP:0100721	Mediastinal lymphadenopathy
1536	CYBB	HP:0100750	Atelectasis
1536	CYBB	HP:0020087	BCGosis
1536	CYBB	HP:0003514	Deficiency or absence of cytochrome b(-245)
1536	CYBB	HP:0001034	Hypermelanotic macule
1536	CYBB	HP:0100658	Cellulitis
1536	CYBB	HP:0200042	Skin ulcer
1536	CYBB	HP:0003621	Juvenile onset
1536	CYBB	HP:0001945	Fever
1536	CYBB	HP:0012735	Cough
1536	CYBB	HP:0012733	Macule
1536	CYBB	HP:0011463	Childhood onset
1536	CYBB	HP:0003206	Decreased activity of NADPH oxidase
1536	CYBB	HP:0003203	Impaired oxidative burst
1536	CYBB	HP:0000976	Eczematoid dermatitis
1536	CYBB	HP:0000992	Cutaneous photosensitivity
1536	CYBB	HP:0000964	Eczema
1536	CYBB	HP:0000246	Sinusitis
1536	CYBB	HP:0000230	Gingivitis
1536	CYBB	HP:0001541	Ascites
1536	CYBB	HP:0002840	Lymphadenitis
1536	CYBB	HP:0002842	Recurrent Burkholderia cepacia infections
1536	CYBB	HP:0006510	Chronic pulmonary obstruction
1536	CYBB	HP:0000388	Otitis media
1536	CYBB	HP:0005224	Rectal abscess
1536	CYBB	HP:0006532	Recurrent pneumonia
1536	CYBB	HP:0002955	Granulomatosis
1536	CYBB	HP:0001744	Splenomegaly
1536	CYBB	HP:0005406	Recurrent bacterial skin infections
1536	CYBB	HP:0011274	Recurrent mycobacterial infections
1536	CYBB	HP:0001874	Abnormality of neutrophils
1537	CYC1	HP:0001298	Encephalopathy
1537	CYC1	HP:0001259	Coma
1537	CYC1	HP:0000007	Autosomal recessive inheritance
1537	CYC1	HP:0002013	Vomiting
1537	CYC1	HP:0005974	Episodic ketoacidosis
1537	CYC1	HP:0005979	Metabolic ketoacidosis
1537	CYC1	HP:0002151	Increased serum lactate
1537	CYC1	HP:0011924	Decreased activity of mitochondrial complex III
1537	CYC1	HP:0003593	Infantile onset
1537	CYC1	HP:0002344	Progressive neurologic deterioration
1537	CYC1	HP:0001944	Dehydration
1537	CYC1	HP:0001943	Hypoglycemia
1537	CYC1	HP:0001993	Ketoacidosis
1537	CYC1	HP:0001987	Hyperammonemia
1537	CYC1	HP:0003074	Hyperglycemia
1537	CYC1	HP:0003128	Lactic acidosis
1537	CYC1	HP:0032653	Elevated lactate:pyruvate ratio
1537	CYC1	HP:0001508	Failure to thrive
1537	CYC1	HP:0001510	Growth delay
1537	CYC1	HP:0006554	Acute hepatic failure
1537	CYC1	HP:0002919	Ketonuria
1537	CYC1	HP:0002910	Elevated hepatic transaminase
1537	CYC1	HP:0000508	Ptosis
1540	CYLD	HP:0002442	Dyscalculia
1540	CYLD	HP:0007354	Amyotrophic lateral sclerosis
1540	CYLD	HP:0002664	Neoplasm
1540	CYLD	HP:0002671	Basal cell carcinoma
1540	CYLD	HP:0000006	Autosomal dominant inheritance
1540	CYLD	HP:0001482	Subcutaneous nodule
1540	CYLD	HP:0100585	Telangiectasia of the skin
1540	CYLD	HP:0002145	Frontotemporal dementia
1540	CYLD	HP:0002185	Neurofibrillary tangles
1540	CYLD	HP:0010529	Echolalia
1540	CYLD	HP:0003596	Middle age onset
1540	CYLD	HP:0003584	Late onset
1540	CYLD	HP:0003581	Adult onset
1540	CYLD	HP:0002283	Global brain atrophy
1540	CYLD	HP:0001056	Milia
1540	CYLD	HP:0002381	Aphasia
1540	CYLD	HP:0002354	Memory impairment
1540	CYLD	HP:0200034	Papule
1540	CYLD	HP:0000726	Dementia
1540	CYLD	HP:0011462	Young adult onset
1540	CYLD	HP:0033051	Impaired executive functioning
1540	CYLD	HP:0008069	Neoplasm of the skin
1545	CYP1B1	HP:0001138	Optic neuropathy
1545	CYP1B1	HP:0025326	Retinal arterial occlusion
1545	CYP1B1	HP:0031159	Thinning of Descemet membrane
1545	CYP1B1	HP:0000007	Autosomal recessive inheritance
1545	CYP1B1	HP:0012108	Open angle glaucoma
1545	CYP1B1	HP:0003593	Infantile onset
1545	CYP1B1	HP:0001052	Nevus flammeus
1545	CYP1B1	HP:0001087	Developmental glaucoma
1545	CYP1B1	HP:0000639	Nystagmus
1545	CYP1B1	HP:0000603	Central scotoma
1545	CYP1B1	HP:0000659	Peters anomaly
1545	CYP1B1	HP:0012636	Retinal vein occlusion
1545	CYP1B1	HP:0011493	Central opacification of the cornea
1545	CYP1B1	HP:0011490	Abnormal Descemet membrane morphology
1545	CYP1B1	HP:0011496	Corneal neovascularization
1545	CYP1B1	HP:0011484	Posterior synechiae of the anterior chamber
1545	CYP1B1	HP:0011483	Anterior synechiae of the anterior chamber
1545	CYP1B1	HP:0012796	Increased cup-to-disc ratio
1545	CYP1B1	HP:0008007	Primary congenital glaucoma
1545	CYP1B1	HP:0008041	Late onset congenital glaucoma
1545	CYP1B1	HP:0007759	Opacification of the corneal stroma
1545	CYP1B1	HP:0007854	Glaucomatous visual field defect
1545	CYP1B1	HP:0011003	High myopia
1545	CYP1B1	HP:0007957	Corneal opacity
1545	CYP1B1	HP:0007906	Ocular hypertension
1545	CYP1B1	HP:0007994	Peripheral visual field loss
1545	CYP1B1	HP:0000486	Strabismus
1545	CYP1B1	HP:0000525	Abnormality iris morphology
1545	CYP1B1	HP:0000523	Subcapsular cataract
1545	CYP1B1	HP:0000505	Visual impairment
1545	CYP1B1	HP:0000501	Glaucoma
1545	CYP1B1	HP:0000593	Abnormal anterior chamber morphology
1545	CYP1B1	HP:0000587	Abnormal optic nerve morphology
1545	CYP1B1	HP:0000557	Buphthalmos
1545	CYP1B1	HP:0000572	Visual loss
1545	CYP1B1	HP:0000541	Retinal detachment
1545	CYP1B1	HP:0012511	Temporal optic disc pallor
1548	CYP2A6	HP:0000006	Autosomal dominant inheritance
1548	CYP2A6	HP:0001428	Somatic mutation
1548	CYP2A6	HP:0030078	Lung adenocarcinoma
1548	CYP2A6	HP:0006519	Alveolar cell carcinoma
1548	CYP2A6	HP:0030358	Non-small cell lung carcinoma
1548	CYP2A6	HP:0001871	Abnormality of blood and blood-forming tissues
1559	CYP2C9	HP:0000006	Autosomal dominant inheritance
1559	CYP2C9	HP:0001871	Abnormality of blood and blood-forming tissues
1565	CYP2D6	HP:0002664	Neoplasm
1565	CYP2D6	HP:0000007	Autosomal recessive inheritance
1565	CYP2D6	HP:0001939	Abnormality of metabolism/homeostasis
1576	CYP3A4	HP:0012052	Low serum calcitriol
1576	CYP3A4	HP:0012053	Decreased circulating calcifediol concentration
1576	CYP3A4	HP:0000006	Autosomal dominant inheritance
1576	CYP3A4	HP:0002148	Hypophosphatemia
1576	CYP3A4	HP:0003015	Flared metaphysis
1576	CYP3A4	HP:0031936	Delayed ability to walk
1576	CYP3A4	HP:0003021	Metaphyseal cupping
1576	CYP3A4	HP:0011463	Childhood onset
1576	CYP3A4	HP:0003155	Elevated circulating alkaline phosphatase concentration
1576	CYP3A4	HP:0003165	Elevated circulating parathyroid hormone level
1576	CYP3A4	HP:0000938	Osteopenia
1576	CYP3A4	HP:0001510	Growth delay
1576	CYP3A4	HP:0002901	Hypocalcemia
1576	CYP3A4	HP:0002979	Bowing of the legs
1576	CYP3A4	HP:0002970	Genu varum
1577	CYP3A5	HP:0001426	Multifactorial inheritance
1577	CYP3A5	HP:0004972	Elevated mean arterial pressure
1577	CYP3A5	HP:0004421	Elevated systolic blood pressure
1577	CYP3A5	HP:0005117	Elevated diastolic blood pressure
1581	CYP7A1	HP:0001397	Hepatic steatosis
1581	CYP7A1	HP:0001396	Cholestasis
1581	CYP7A1	HP:0012115	Hepatitis
1581	CYP7A1	HP:0001403	Macrovesicular hepatic steatosis
1581	CYP7A1	HP:0100514	Abnormality of vitamin E metabolism
1581	CYP7A1	HP:0002155	Hypertriglyceridemia
1581	CYP7A1	HP:0008372	Abnormality of vitamin A metabolism
1581	CYP7A1	HP:0011980	Cholesterol gallstones
1581	CYP7A1	HP:0004943	Accelerated atherosclerosis
1581	CYP7A1	HP:0003124	Hypercholesterolemia
1581	CYP7A1	HP:0003141	Increased LDL cholesterol concentration
1581	CYP7A1	HP:0001513	Obesity
1581	CYP7A1	HP:0012397	Aortic atherosclerotic lesion
1581	CYP7A1	HP:0006573	Acute hepatic steatosis
1581	CYP7A1	HP:0001677	Coronary artery atherosclerosis
1583	CYP11A1	HP:0001197	Abnormality of prenatal development or birth
1583	CYP11A1	HP:0001274	Agenesis of corpus callosum
1583	CYP11A1	HP:0007440	Generalized hyperpigmentation
1583	CYP11A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype
1583	CYP11A1	HP:0008734	Decreased testicular size
1583	CYP11A1	HP:0008665	Clitoral hypertrophy
1583	CYP11A1	HP:0000037	Male pseudohermaphroditism
1583	CYP11A1	HP:0000033	Ambiguous genitalia, male
1583	CYP11A1	HP:0000028	Cryptorchidism
1583	CYP11A1	HP:0002615	Hypotension
1583	CYP11A1	HP:0000142	Abnormal vagina morphology
1583	CYP11A1	HP:0000144	Decreased fertility
1583	CYP11A1	HP:0000151	Aplasia of the uterus
1583	CYP11A1	HP:0007574	Generalized bronze hyperpigmentation
1583	CYP11A1	HP:0000127	Renal salt wasting
1583	CYP11A1	HP:0002750	Delayed skeletal maturation
1583	CYP11A1	HP:0002013	Vomiting
1583	CYP11A1	HP:0011749	Adrenocorticotropic hormone excess
1583	CYP11A1	HP:0008187	Absence of secondary sex characteristics
1583	CYP11A1	HP:0008163	Decreased circulating cortisol level
1583	CYP11A1	HP:0002153	Hyperkalemia
1583	CYP11A1	HP:0008232	Elevated circulating follicle stimulating hormone level
1583	CYP11A1	HP:0010512	Adrenal calcification
1583	CYP11A1	HP:0008207	Primary adrenal insufficiency
1583	CYP11A1	HP:0100779	Urogenital sinus anomaly
1583	CYP11A1	HP:0011968	Feeding difficulties
1583	CYP11A1	HP:0011969	Elevated circulating luteinizing hormone level
1583	CYP11A1	HP:0010789	Abnormality of the Leydig cells
1583	CYP11A1	HP:0012605	Hypernatriuria
1583	CYP11A1	HP:0001944	Dehydration
1583	CYP11A1	HP:0001941	Acidosis
1583	CYP11A1	HP:0001998	Neonatal hypoglycemia
1583	CYP11A1	HP:0004319	Decreased circulating aldosterone level
1583	CYP11A1	HP:0004349	Reduced bone mineral density
1583	CYP11A1	HP:0000771	Gynecomastia
1583	CYP11A1	HP:0003107	Abnormal circulating cholesterol concentration
1583	CYP11A1	HP:0003154	Increased circulating ACTH level
1583	CYP11A1	HP:0012854	Midshaft hypospadias
1583	CYP11A1	HP:0000859	Hyperaldosteronism
1583	CYP11A1	HP:0000835	Adrenal hypoplasia
1583	CYP11A1	HP:0000848	Increased circulating renin level
1583	CYP11A1	HP:0000846	Adrenal insufficiency
1583	CYP11A1	HP:0000823	Delayed puberty
1583	CYP11A1	HP:0000953	Hyperpigmentation of the skin
1583	CYP11A1	HP:0000939	Osteoporosis
1583	CYP11A1	HP:0008073	Low maternal circulating estriol concentration
1583	CYP11A1	HP:0012244	Abnormal sex determination
1583	CYP11A1	HP:0012245	Sex reversal
1583	CYP11A1	HP:0001508	Failure to thrive
1583	CYP11A1	HP:0002902	Hyponatremia
1583	CYP11A1	HP:0001622	Premature birth
1583	CYP11A1	HP:0011106	Hypovolemia
1583	CYP11A1	HP:0012598	Abnormal urine potassium concentration
1583	CYP11A1	HP:0030349	Decreased circulating androgen concentration
1583	CYP11A1	HP:0030369	Induced vaginal delivery
1584	CYP11B1	HP:0008726	Hypoplasia of the vagina
1584	CYP11B1	HP:0008734	Decreased testicular size
1584	CYP11B1	HP:0008665	Clitoral hypertrophy
1584	CYP11B1	HP:0032330	Increased urinary 11-deoxycorticosterone level
1584	CYP11B1	HP:0025380	Increased circulating androstenedione concentration
1584	CYP11B1	HP:0000062	Ambiguous genitalia
1584	CYP11B1	HP:0000061	Ambiguous genitalia, female
1584	CYP11B1	HP:0000079	Abnormality of the urinary system
1584	CYP11B1	HP:0000040	Long penis
1584	CYP11B1	HP:0001324	Muscle weakness
1584	CYP11B1	HP:0000013	Hypoplasia of the uterus
1584	CYP11B1	HP:0000007	Autosomal recessive inheritance
1584	CYP11B1	HP:0000006	Autosomal dominant inheritance
1584	CYP11B1	HP:0025451	Testicular adrenal rest tumor
1584	CYP11B1	HP:0025436	Elevated serum 11-deoxycortisol
1584	CYP11B1	HP:0000147	Polycystic ovaries
1584	CYP11B1	HP:0000127	Renal salt wasting
1584	CYP11B1	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration
1584	CYP11B1	HP:0003351	Decreased circulating renin level
1584	CYP11B1	HP:0002018	Nausea
1584	CYP11B1	HP:0011746	Secretory adrenocortical adenoma
1584	CYP11B1	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism
1584	CYP11B1	HP:0008185	Precocious puberty in males
1584	CYP11B1	HP:0008163	Decreased circulating cortisol level
1584	CYP11B1	HP:0002170	Intracranial hemorrhage
1584	CYP11B1	HP:0008258	Congenital adrenal hyperplasia
1584	CYP11B1	HP:0008236	Isosexual precocious puberty
1584	CYP11B1	HP:0008221	Adrenal hyperplasia
1584	CYP11B1	HP:0003581	Adult onset
1584	CYP11B1	HP:0001061	Acne
1584	CYP11B1	HP:0001007	Hirsutism
1584	CYP11B1	HP:0002315	Headache
1584	CYP11B1	HP:0100602	Preeclampsia
1584	CYP11B1	HP:0003623	Neonatal onset
1584	CYP11B1	HP:0003621	Juvenile onset
1584	CYP11B1	HP:0001959	Polydipsia
1584	CYP11B1	HP:0004322	Short stature
1584	CYP11B1	HP:0004319	Decreased circulating aldosterone level
1584	CYP11B1	HP:0005616	Accelerated skeletal maturation
1584	CYP11B1	HP:0011410	Caesarian section
1584	CYP11B1	HP:0000771	Gynecomastia
1584	CYP11B1	HP:0011463	Childhood onset
1584	CYP11B1	HP:0003154	Increased circulating ACTH level
1584	CYP11B1	HP:0000859	Hyperaldosteronism
1584	CYP11B1	HP:0000858	Irregular menstruation
1584	CYP11B1	HP:0000840	Adrenogenital syndrome
1584	CYP11B1	HP:0000826	Precocious puberty
1584	CYP11B1	HP:0000822	Hypertension
1584	CYP11B1	HP:0040084	Abnormal circulating renin
1584	CYP11B1	HP:0010314	Premature thelarche
1584	CYP11B1	HP:0000953	Hyperpigmentation of the skin
1584	CYP11B1	HP:0001596	Alopecia
1584	CYP11B1	HP:0030088	Increased serum testosterone level
1584	CYP11B1	HP:0001507	Growth abnormality
1584	CYP11B1	HP:0002900	Hypokalemia
1584	CYP11B1	HP:0000360	Tinnitus
1584	CYP11B1	HP:0012411	Premature pubarche
1584	CYP11B1	HP:0012412	Premature adrenarche
1584	CYP11B1	HP:0000421	Epistaxis
1584	CYP11B1	HP:0030348	Increased circulating androgen concentration
1585	CYP11B2	HP:0020200	Increased circulating 18-hydroxycortisone level
1585	CYP11B2	HP:0001290	Generalized hypotonia
1585	CYP11B2	HP:0001278	Orthostatic hypotension
1585	CYP11B2	HP:0032362	Increased circulating corticosterone level
1585	CYP11B2	HP:0008897	Postnatal growth retardation
1585	CYP11B2	HP:0008872	Feeding difficulties in infancy
1585	CYP11B2	HP:0001324	Muscle weakness
1585	CYP11B2	HP:0000007	Autosomal recessive inheritance
1585	CYP11B2	HP:0002615	Hypotension
1585	CYP11B2	HP:0025436	Elevated serum 11-deoxycortisol
1585	CYP11B2	HP:0012112	Abnormal circulating corticosterone level
1585	CYP11B2	HP:0000127	Renal salt wasting
1585	CYP11B2	HP:0002018	Nausea
1585	CYP11B2	HP:0002013	Vomiting
1585	CYP11B2	HP:0011746	Secretory adrenocortical adenoma
1585	CYP11B2	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism
1585	CYP11B2	HP:0002153	Hyperkalemia
1585	CYP11B2	HP:0002170	Intracranial hemorrhage
1585	CYP11B2	HP:0008221	Adrenal hyperplasia
1585	CYP11B2	HP:0011968	Feeding difficulties
1585	CYP11B2	HP:0002315	Headache
1585	CYP11B2	HP:0100602	Preeclampsia
1585	CYP11B2	HP:0003623	Neonatal onset
1585	CYP11B2	HP:0012606	Renal sodium wasting
1585	CYP11B2	HP:0001944	Dehydration
1585	CYP11B2	HP:0001959	Polydipsia
1585	CYP11B2	HP:0001954	Recurrent fever
1585	CYP11B2	HP:0004319	Decreased circulating aldosterone level
1585	CYP11B2	HP:0011410	Caesarian section
1585	CYP11B2	HP:0000848	Increased circulating renin level
1585	CYP11B2	HP:0000811	Abnormal external genitalia
1585	CYP11B2	HP:0000822	Hypertension
1585	CYP11B2	HP:0040084	Abnormal circulating renin
1585	CYP11B2	HP:0001508	Failure to thrive
1585	CYP11B2	HP:0001510	Growth delay
1585	CYP11B2	HP:0002902	Hyponatremia
1585	CYP11B2	HP:0002900	Hypokalemia
1585	CYP11B2	HP:0000360	Tinnitus
1585	CYP11B2	HP:0000421	Epistaxis
1586	CYP17A1	HP:0002555	Absent pubic hair
1586	CYP17A1	HP:0008726	Hypoplasia of the vagina
1586	CYP17A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype
1586	CYP17A1	HP:0008734	Decreased testicular size
1586	CYP17A1	HP:0032362	Increased circulating corticosterone level
1586	CYP17A1	HP:0031074	Abnormal response to ACTH stimulation test
1586	CYP17A1	HP:0008689	Bilateral cryptorchidism
1586	CYP17A1	HP:0008675	Enlarged polycystic ovaries
1586	CYP17A1	HP:0032330	Increased urinary 11-deoxycorticosterone level
1586	CYP17A1	HP:0000062	Ambiguous genitalia
1586	CYP17A1	HP:0012041	Decreased fertility in males
1586	CYP17A1	HP:0000037	Male pseudohermaphroditism
1586	CYP17A1	HP:0000054	Micropenis
1586	CYP17A1	HP:0000048	Bifid scrotum
1586	CYP17A1	HP:0000047	Hypospadias
1586	CYP17A1	HP:0000033	Ambiguous genitalia, male
1586	CYP17A1	HP:0000026	Male hypogonadism
1586	CYP17A1	HP:0000028	Cryptorchidism
1586	CYP17A1	HP:0000013	Hypoplasia of the uterus
1586	CYP17A1	HP:0000007	Autosomal recessive inheritance
1586	CYP17A1	HP:0000144	Decreased fertility
1586	CYP17A1	HP:0000138	Ovarian cyst
1586	CYP17A1	HP:0000151	Aplasia of the uterus
1586	CYP17A1	HP:0000147	Polycystic ovaries
1586	CYP17A1	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
1586	CYP17A1	HP:0012112	Abnormal circulating corticosterone level
1586	CYP17A1	HP:0031216	Increased circulating progesterone
1586	CYP17A1	HP:0002750	Delayed skeletal maturation
1586	CYP17A1	HP:0003351	Decreased circulating renin level
1586	CYP17A1	HP:0040314	Blind vagina
1586	CYP17A1	HP:0003394	Muscle spasm
1586	CYP17A1	HP:0011749	Adrenocorticotropic hormone excess
1586	CYP17A1	HP:0008193	Primary gonadal insufficiency
1586	CYP17A1	HP:0008197	Absence of pubertal development
1586	CYP17A1	HP:0008187	Absence of secondary sex characteristics
1586	CYP17A1	HP:0008163	Decreased circulating cortisol level
1586	CYP17A1	HP:0010465	Precocious puberty in females
1586	CYP17A1	HP:0008258	Congenital adrenal hyperplasia
1586	CYP17A1	HP:0008232	Elevated circulating follicle stimulating hormone level
1586	CYP17A1	HP:0008221	Adrenal hyperplasia
1586	CYP17A1	HP:0008214	Decreased serum estradiol
1586	CYP17A1	HP:0008207	Primary adrenal insufficiency
1586	CYP17A1	HP:0002221	Absent axillary hair
1586	CYP17A1	HP:0002215	Sparse axillary hair
1586	CYP17A1	HP:0002231	Sparse body hair
1586	CYP17A1	HP:0002225	Sparse pubic hair
1586	CYP17A1	HP:0011969	Elevated circulating luteinizing hormone level
1586	CYP17A1	HP:0100607	Dysmenorrhea
1586	CYP17A1	HP:0001949	Hypokalemic alkalosis
1586	CYP17A1	HP:0004322	Short stature
1586	CYP17A1	HP:0004319	Decreased circulating aldosterone level
1586	CYP17A1	HP:0004349	Reduced bone mineral density
1586	CYP17A1	HP:0000771	Gynecomastia
1586	CYP17A1	HP:0000786	Primary amenorrhea
1586	CYP17A1	HP:0000858	Irregular menstruation
1586	CYP17A1	HP:0000868	Decreased fertility in females
1586	CYP17A1	HP:0000837	Increased circulating gonadotropin level
1586	CYP17A1	HP:0000840	Adrenogenital syndrome
1586	CYP17A1	HP:0000815	Hypergonadotropic hypogonadism
1586	CYP17A1	HP:0000822	Hypertension
1586	CYP17A1	HP:0000823	Delayed puberty
1586	CYP17A1	HP:0003251	Male infertility
1586	CYP17A1	HP:0000939	Osteoporosis
1586	CYP17A1	HP:0040171	Decreased serum testosterone concentration
1586	CYP17A1	HP:0012244	Abnormal sex determination
1586	CYP17A1	HP:0001508	Failure to thrive
1586	CYP17A1	HP:0002900	Hypokalemia
1586	CYP17A1	HP:0030349	Decreased circulating androgen concentration
1588	CYP19A1	HP:0003782	Eunuchoid habitus
1588	CYP19A1	HP:0008675	Enlarged polycystic ovaries
1588	CYP19A1	HP:0000098	Tall stature
1588	CYP19A1	HP:0001397	Hepatic steatosis
1588	CYP19A1	HP:0000061	Ambiguous genitalia, female
1588	CYP19A1	HP:0000028	Cryptorchidism
1588	CYP19A1	HP:0002663	Delayed epiphyseal ossification
1588	CYP19A1	HP:0000007	Autosomal recessive inheritance
1588	CYP19A1	HP:0000006	Autosomal dominant inheritance
1588	CYP19A1	HP:0002653	Bone pain
1588	CYP19A1	HP:0000138	Ovarian cyst
1588	CYP19A1	HP:0002750	Delayed skeletal maturation
1588	CYP19A1	HP:0005978	Type II diabetes mellitus
1588	CYP19A1	HP:0002050	Macroorchidism, postpubertal
1588	CYP19A1	HP:0010458	Female pseudohermaphroditism
1588	CYP19A1	HP:0008222	Female infertility
1588	CYP19A1	HP:0003577	Congenital onset
1588	CYP19A1	HP:0002230	Generalized hirsutism
1588	CYP19A1	HP:0004322	Short stature
1588	CYP19A1	HP:0005616	Accelerated skeletal maturation
1588	CYP19A1	HP:0003077	Hyperlipidemia
1588	CYP19A1	HP:0000771	Gynecomastia
1588	CYP19A1	HP:0000786	Primary amenorrhea
1588	CYP19A1	HP:0000855	Insulin resistance
1588	CYP19A1	HP:0000815	Hypergonadotropic hypogonadism
1588	CYP19A1	HP:0003251	Male infertility
1588	CYP19A1	HP:0000956	Acanthosis nigricans
1588	CYP19A1	HP:0000939	Osteoporosis
1588	CYP19A1	HP:0000938	Osteopenia
1588	CYP19A1	HP:0008072	Maternal virilization in pregnancy
1588	CYP19A1	HP:0002857	Genu valgum
1588	CYP19A1	HP:0001510	Growth delay
1588	CYP19A1	HP:0001513	Obesity
1589	CYP21A2	HP:0000047	Hypospadias
1589	CYP21A2	HP:0000007	Autosomal recessive inheritance
1589	CYP21A2	HP:0000127	Renal salt wasting
1589	CYP21A2	HP:0008221	Adrenal hyperplasia
1589	CYP21A2	HP:0001943	Hypoglycemia
1589	CYP21A2	HP:0001945	Fever
1589	CYP21A2	HP:0001954	Recurrent fever
1589	CYP21A2	HP:0000771	Gynecomastia
1589	CYP21A2	HP:0000765	Abnormal thorax morphology
1589	CYP21A2	HP:0000840	Adrenogenital syndrome
1589	CYP21A2	HP:0000822	Hypertension
1589	CYP21A2	HP:0001507	Growth abnormality
1591	CYP24A1	HP:0001254	Lethargy
1591	CYP24A1	HP:0001252	Hypotonia
1591	CYP24A1	HP:0000007	Autosomal recessive inheritance
1591	CYP24A1	HP:0000121	Nephrocalcinosis
1591	CYP24A1	HP:0000103	Polyuria
1591	CYP24A1	HP:0002013	Vomiting
1591	CYP24A1	HP:0002150	Hypercalciuria
1591	CYP24A1	HP:0003593	Infantile onset
1591	CYP24A1	HP:0031817	Decreased circulating parathyroid hormone level
1591	CYP24A1	HP:0001944	Dehydration
1591	CYP24A1	HP:0003072	Hypercalcemia
1591	CYP24A1	HP:0000787	Nephrolithiasis
1591	CYP24A1	HP:0001508	Failure to thrive
1591	CYP24A1	HP:0012408	Medullary nephrocalcinosis
1591	CYP24A1	HP:0001824	Weight loss
1593	CYP27A1	HP:0001155	Abnormality of the hand
1593	CYP27A1	HP:0001167	Abnormal finger morphology
1593	CYP27A1	HP:0001138	Optic neuropathy
1593	CYP27A1	HP:0002453	Abnormal globus pallidus morphology
1593	CYP27A1	HP:0001118	Juvenile cataract
1593	CYP27A1	HP:0001114	Xanthelasma
1593	CYP27A1	HP:0007305	CNS demyelination
1593	CYP27A1	HP:0007272	Progressive psychomotor deterioration
1593	CYP27A1	HP:0007256	Abnormal pyramidal sign
1593	CYP27A1	HP:0010874	Tendon xanthomatosis
1593	CYP27A1	HP:0002423	Long-tract signs
1593	CYP27A1	HP:0001272	Cerebellar atrophy
1593	CYP27A1	HP:0001288	Gait disturbance
1593	CYP27A1	HP:0001250	Seizure
1593	CYP27A1	HP:0001251	Ataxia
1593	CYP27A1	HP:0001249	Intellectual disability
1593	CYP27A1	HP:0001260	Dysarthria
1593	CYP27A1	HP:0001257	Spasticity
1593	CYP27A1	HP:0100872	Abnormality of the plantar skin of foot
1593	CYP27A1	HP:0007377	Abnormality of somatosensory evoked potentials
1593	CYP27A1	HP:0007340	Lower limb muscle weakness
1593	CYP27A1	HP:0002518	Abnormal periventricular white matter morphology
1593	CYP27A1	HP:0012075	Personality disorder
1593	CYP27A1	HP:0001347	Hyperreflexia
1593	CYP27A1	HP:0007495	Prematurely aged appearance
1593	CYP27A1	HP:0001332	Dystonia
1593	CYP27A1	HP:0001328	Specific learning disability
1593	CYP27A1	HP:0002659	Increased susceptibility to fractures
1593	CYP27A1	HP:0000007	Autosomal recessive inheritance
1593	CYP27A1	HP:0001317	Abnormal cerebellum morphology
1593	CYP27A1	HP:0001300	Parkinsonism
1593	CYP27A1	HP:0031290	Tuberous xanthoma
1593	CYP27A1	HP:0002028	Chronic diarrhea
1593	CYP27A1	HP:0002014	Diarrhea
1593	CYP27A1	HP:0002088	Abnormal lung morphology
1593	CYP27A1	HP:0100543	Cognitive impairment
1593	CYP27A1	HP:0002093	Respiratory insufficiency
1593	CYP27A1	HP:0002071	Abnormality of extrapyramidal motor function
1593	CYP27A1	HP:0002059	Cerebral atrophy
1593	CYP27A1	HP:0003474	Somatic sensory dysfunction
1593	CYP27A1	HP:0003487	Babinski sign
1593	CYP27A1	HP:0003482	EMG: axonal abnormality
1593	CYP27A1	HP:0002151	Increased serum lactate
1593	CYP27A1	HP:0011931	Abnormal cerebellar peduncle morphology
1593	CYP27A1	HP:0002196	Myelopathy
1593	CYP27A1	HP:0002171	Gliosis
1593	CYP27A1	HP:0010530	Palatal tremor
1593	CYP27A1	HP:0200125	Mitochondrial respiratory chain defects
1593	CYP27A1	HP:0002283	Global brain atrophy
1593	CYP27A1	HP:0011994	Abnormal atrial septum morphology
1593	CYP27A1	HP:0007024	Pseudobulbar paralysis
1593	CYP27A1	HP:0007018	Attention deficit hyperactivity disorder
1593	CYP27A1	HP:0002385	Paraparesis
1593	CYP27A1	HP:0003693	Distal amyotrophy
1593	CYP27A1	HP:0002355	Difficulty walking
1593	CYP27A1	HP:0002322	Resting tremor
1593	CYP27A1	HP:0002313	Spastic paraparesis
1593	CYP27A1	HP:0010845	EEG with generalized slow activity
1593	CYP27A1	HP:0008516	Abnormality of the vertebral spinous processes
1593	CYP27A1	HP:0009830	Peripheral neuropathy
1593	CYP27A1	HP:0009811	Abnormality of the elbow
1593	CYP27A1	HP:0001081	Cholelithiasis
1593	CYP27A1	HP:0002310	Orofacial dyskinesia
1593	CYP27A1	HP:0000639	Nystagmus
1593	CYP27A1	HP:0000649	Abnormality of visual evoked potentials
1593	CYP27A1	HP:0000648	Optic atrophy
1593	CYP27A1	HP:0006958	Abnormal auditory evoked potentials
1593	CYP27A1	HP:0000762	Decreased nerve conduction velocity
1593	CYP27A1	HP:0000738	Hallucinations
1593	CYP27A1	HP:0000736	Short attention span
1593	CYP27A1	HP:0000746	Delusions
1593	CYP27A1	HP:0012706	Elevated brain choline level by MRS
1593	CYP27A1	HP:0012707	Elevated brain lactate level by MRS
1593	CYP27A1	HP:0000716	Depression
1593	CYP27A1	HP:0000718	Aggressive behavior
1593	CYP27A1	HP:0000717	Autism
1593	CYP27A1	HP:0000713	Agitation
1593	CYP27A1	HP:0000726	Dementia
1593	CYP27A1	HP:0000708	Atypical behavior
1593	CYP27A1	HP:0011448	Ankle clonus
1593	CYP27A1	HP:0012758	Neurodevelopmental delay
1593	CYP27A1	HP:0003107	Abnormal circulating cholesterol concentration
1593	CYP27A1	HP:0004416	Precocious atherosclerosis
1593	CYP27A1	HP:0100321	Abnormal dentate nucleus morphology
1593	CYP27A1	HP:0000821	Hypothyroidism
1593	CYP27A1	HP:0012896	Abnormal motor evoked potentials
1593	CYP27A1	HP:0040078	Axonal degeneration
1593	CYP27A1	HP:0030890	Hyperintensity of cerebral white matter on MRI
1593	CYP27A1	HP:0000991	Xanthomatosis
1593	CYP27A1	HP:0000939	Osteoporosis
1593	CYP27A1	HP:0000938	Osteopenia
1593	CYP27A1	HP:0100291	Abnormality of central somatosensory evoked potentials
1593	CYP27A1	HP:0008046	Abnormal retinal vascular morphology
1593	CYP27A1	HP:0005109	Abnormality of the Achilles tendon
1593	CYP27A1	HP:0002823	Abnormality of femur morphology
1593	CYP27A1	HP:0012379	Abnormal circulating enzyme concentration or activity
1593	CYP27A1	HP:0006579	Prolonged neonatal jaundice
1593	CYP27A1	HP:0002942	Thoracic kyphosis
1593	CYP27A1	HP:0005181	Premature coronary artery atherosclerosis
1593	CYP27A1	HP:0006480	Premature loss of teeth
1593	CYP27A1	HP:0001681	Angina pectoris
1593	CYP27A1	HP:0002992	Abnormality of tibia morphology
1593	CYP27A1	HP:0001658	Myocardial infarction
1593	CYP27A1	HP:0007922	Hypermyelinated retinal nerve fibers
1593	CYP27A1	HP:0000492	Abnormal eyelid morphology
1593	CYP27A1	HP:0000464	Abnormality of the neck
1593	CYP27A1	HP:0031589	Suicidal ideation
1593	CYP27A1	HP:0025710	Late young adult onset
1593	CYP27A1	HP:0001761	Pes cavus
1593	CYP27A1	HP:0000518	Cataract
1593	CYP27A1	HP:0000520	Proptosis
1593	CYP27A1	HP:0000505	Visual impairment
1593	CYP27A1	HP:0000543	Optic disc pallor
1594	CYP27B1	HP:0001290	Generalized hypotonia
1594	CYP27B1	HP:0001270	Motor delay
1594	CYP27B1	HP:0001281	Tetany
1594	CYP27B1	HP:0001252	Hypotonia
1594	CYP27B1	HP:0012052	Low serum calcitriol
1594	CYP27B1	HP:0012053	Decreased circulating calcifediol concentration
1594	CYP27B1	HP:0008897	Postnatal growth retardation
1594	CYP27B1	HP:0002663	Delayed epiphyseal ossification
1594	CYP27B1	HP:0002659	Increased susceptibility to fractures
1594	CYP27B1	HP:0001324	Muscle weakness
1594	CYP27B1	HP:0000007	Autosomal recessive inheritance
1594	CYP27B1	HP:0002653	Bone pain
1594	CYP27B1	HP:0006297	Enamel hypoplasia
1594	CYP27B1	HP:0002757	Recurrent fractures
1594	CYP27B1	HP:0002753	Thin bony cortex
1594	CYP27B1	HP:0002752	Sparse bone trabeculae
1594	CYP27B1	HP:0002748	Rickets
1594	CYP27B1	HP:0002749	Osteomalacia
1594	CYP27B1	HP:0002007	Frontal bossing
1594	CYP27B1	HP:0002148	Hypophosphatemia
1594	CYP27B1	HP:0002199	Hypocalcemic seizures
1594	CYP27B1	HP:0010537	Wide cranial sutures
1594	CYP27B1	HP:0010502	Fibular bowing
1594	CYP27B1	HP:0010639	Elevated alkaline phosphatase of bone origin
1594	CYP27B1	HP:0003698	Difficulty standing
1594	CYP27B1	HP:0002355	Difficulty walking
1594	CYP27B1	HP:0000684	Delayed eruption of teeth
1594	CYP27B1	HP:0009023	Abdominal wall muscle weakness
1594	CYP27B1	HP:0004322	Short stature
1594	CYP27B1	HP:0003029	Enlargement of the ankles
1594	CYP27B1	HP:0003013	Bulging epiphyses
1594	CYP27B1	HP:0003025	Metaphyseal irregularity
1594	CYP27B1	HP:0003020	Enlargement of the wrists
1594	CYP27B1	HP:0000737	Irritability
1594	CYP27B1	HP:0011463	Childhood onset
1594	CYP27B1	HP:0003106	Subperiosteal bone resorption
1594	CYP27B1	HP:0000920	Enlargement of the costochondral junction
1594	CYP27B1	HP:0003155	Elevated circulating alkaline phosphatase concentration
1594	CYP27B1	HP:0003165	Elevated circulating parathyroid hormone level
1594	CYP27B1	HP:0004492	Widely patent fontanelles and sutures
1594	CYP27B1	HP:0000893	Bulging of the costochondral junction
1594	CYP27B1	HP:0000886	Deformed rib cage
1594	CYP27B1	HP:0000867	Secondary hyperparathyroidism
1594	CYP27B1	HP:0000897	Rachitic rosary
1594	CYP27B1	HP:0005042	Irregular, rachitic-like metaphyses
1594	CYP27B1	HP:0001538	Protuberant abdomen
1594	CYP27B1	HP:0001508	Failure to thrive
1594	CYP27B1	HP:0001510	Growth delay
1594	CYP27B1	HP:0002909	Generalized aminoaciduria
1594	CYP27B1	HP:0002901	Hypocalcemia
1594	CYP27B1	HP:0002982	Tibial bowing
1594	CYP27B1	HP:0002980	Femoral bowing
1594	CYP27B1	HP:0002979	Bowing of the legs
1594	CYP27B1	HP:0002970	Genu varum
1594	CYP27B1	HP:0005469	Flat occiput
1600	DAB1	HP:0002406	Limb dysmetria
1600	DAB1	HP:0001272	Cerebellar atrophy
1600	DAB1	HP:0001288	Gait disturbance
1600	DAB1	HP:0001251	Ataxia
1600	DAB1	HP:0001260	Dysarthria
1600	DAB1	HP:0002527	Falls
1600	DAB1	HP:0001337	Tremor
1600	DAB1	HP:0000006	Autosomal dominant inheritance
1600	DAB1	HP:0001336	Myoclonus
1600	DAB1	HP:0002015	Dysphagia
1600	DAB1	HP:0002078	Truncal ataxia
1600	DAB1	HP:0002075	Dysdiadochokinesis
1600	DAB1	HP:0003474	Somatic sensory dysfunction
1600	DAB1	HP:0002168	Scanning speech
1600	DAB1	HP:0002167	Abnormality of speech or vocalization
1600	DAB1	HP:0002396	Cogwheel rigidity
1600	DAB1	HP:0002359	Frequent falls
1600	DAB1	HP:0003677	Slowly progressive
1600	DAB1	HP:0002317	Unsteady gait
1600	DAB1	HP:0006855	Cerebellar vermis atrophy
1600	DAB1	HP:0000639	Nystagmus
1600	DAB1	HP:0000666	Horizontal nystagmus
1600	DAB1	HP:0100275	Diffuse cerebellar atrophy
1600	DAB1	HP:0000407	Sensorineural hearing impairment
1600	DAB1	HP:0000549	Abnormal conjugate eye movement
1604	CD55	HP:0002593	Intestinal lymphangiectasia
1604	CD55	HP:0007430	Generalized edema
1604	CD55	HP:0001217	Clubbing
1604	CD55	HP:0000007	Autosomal recessive inheritance
1604	CD55	HP:0002639	Budd-Chiari syndrome
1604	CD55	HP:0002783	Recurrent lower respiratory tract infections
1604	CD55	HP:0002719	Recurrent infections
1604	CD55	HP:0002024	Malabsorption
1604	CD55	HP:0002027	Abdominal pain
1604	CD55	HP:0002014	Diarrhea
1604	CD55	HP:0002013	Vomiting
1604	CD55	HP:0003593	Infantile onset
1604	CD55	HP:0002243	Protein-losing enteropathy
1604	CD55	HP:0002242	Abnormal intestine morphology
1604	CD55	HP:0002240	Hepatomegaly
1604	CD55	HP:0002204	Pulmonary embolism
1604	CD55	HP:0100759	Clubbing of fingers
1604	CD55	HP:0003621	Juvenile onset
1604	CD55	HP:0001903	Anemia
1604	CD55	HP:0004313	Decreased circulating antibody level
1604	CD55	HP:0003075	Hypoproteinemia
1604	CD55	HP:0003073	Hypoalbuminemia
1604	CD55	HP:0011463	Childhood onset
1604	CD55	HP:0000821	Hypothyroidism
1604	CD55	HP:0000969	Edema
1604	CD55	HP:0002829	Arthralgia
1604	CD55	HP:0001541	Ascites
1604	CD55	HP:0001510	Growth delay
1604	CD55	HP:0005214	Intestinal obstruction
1604	CD55	HP:0030243	Hepatic vein thrombosis
1604	CD55	HP:0001891	Iron deficiency anemia
1604	CD55	HP:0001894	Thrombocytosis
1605	DAG1	HP:0002465	Poor speech
1605	DAG1	HP:0010864	Intellectual disability, severe
1605	DAG1	HP:0007227	Macrogyria
1605	DAG1	HP:0002421	Poor head control
1605	DAG1	HP:0002415	Leukodystrophy
1605	DAG1	HP:0003707	Calf muscle pseudohypertrophy
1605	DAG1	HP:0001290	Generalized hypotonia
1605	DAG1	HP:0001274	Agenesis of corpus callosum
1605	DAG1	HP:0001270	Motor delay
1605	DAG1	HP:0001284	Areflexia
1605	DAG1	HP:0001256	Intellectual disability, mild
1605	DAG1	HP:0001250	Seizure
1605	DAG1	HP:0001252	Hypotonia
1605	DAG1	HP:0001249	Intellectual disability
1605	DAG1	HP:0001265	Hyporeflexia
1605	DAG1	HP:0001263	Global developmental delay
1605	DAG1	HP:0008736	Hypoplasia of penis
1605	DAG1	HP:0007361	Abnormal pons morphology
1605	DAG1	HP:0002536	Abnormal cortical gyration
1605	DAG1	HP:0002515	Waddling gait
1605	DAG1	HP:0002514	Cerebral calcification
1605	DAG1	HP:0025336	Delayed ability to sit
1605	DAG1	HP:0000028	Cryptorchidism
1605	DAG1	HP:0001331	Absent septum pellucidum
1605	DAG1	HP:0001328	Specific learning disability
1605	DAG1	HP:0001324	Muscle weakness
1605	DAG1	HP:0001344	Absent speech
1605	DAG1	HP:0001339	Lissencephaly
1605	DAG1	HP:0000007	Autosomal recessive inheritance
1605	DAG1	HP:0001305	Dandy-Walker malformation
1605	DAG1	HP:0001302	Pachygyria
1605	DAG1	HP:0001320	Cerebellar vermis hypoplasia
1605	DAG1	HP:0001321	Cerebellar hypoplasia
1605	DAG1	HP:0000193	Bifid uvula
1605	DAG1	HP:0000176	Submucous cleft hard palate
1605	DAG1	HP:0000175	Cleft palate
1605	DAG1	HP:0008981	Calf muscle hypertrophy
1605	DAG1	HP:0008947	Infantile muscular hypotonia
1605	DAG1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
1605	DAG1	HP:0003325	Limb-girdle muscle weakness
1605	DAG1	HP:0003391	Gowers sign
1605	DAG1	HP:0002079	Hypoplasia of the corpus callosum
1605	DAG1	HP:0002119	Ventriculomegaly
1605	DAG1	HP:0002126	Polymicrogyria
1605	DAG1	HP:0010508	Metatarsus valgus
1605	DAG1	HP:0003593	Infantile onset
1605	DAG1	HP:0002269	Abnormality of neuronal migration
1605	DAG1	HP:0003551	Difficulty climbing stairs
1605	DAG1	HP:0003560	Muscular dystrophy
1605	DAG1	HP:0003557	Increased variability in muscle fiber diameter
1605	DAG1	HP:0002363	Abnormal brainstem morphology
1605	DAG1	HP:0002355	Difficulty walking
1605	DAG1	HP:0002350	Cerebellar cyst
1605	DAG1	HP:0002317	Unsteady gait
1605	DAG1	HP:0002334	Abnormal cerebellar vermis morphology
1605	DAG1	HP:0031882	Agyria
1605	DAG1	HP:0000648	Optic atrophy
1605	DAG1	HP:0000612	Iris coloboma
1605	DAG1	HP:0011344	Severe global developmental delay
1605	DAG1	HP:0031936	Delayed ability to walk
1605	DAG1	HP:0000750	Delayed speech and language development
1605	DAG1	HP:0011463	Childhood onset
1605	DAG1	HP:0040081	Abnormal circulating creatine kinase concentration
1605	DAG1	HP:0003236	Elevated circulating creatine kinase concentration
1605	DAG1	HP:0003202	Skeletal muscle atrophy
1605	DAG1	HP:0045040	Abnormal lactate dehydrogenase level
1605	DAG1	HP:0000256	Macrocephaly
1605	DAG1	HP:0006466	Ankle flexion contracture
1605	DAG1	HP:0007731	Chorioretinal dysplasia
1605	DAG1	HP:0030099	Reduced muscle fiber alpha dystroglycan
1605	DAG1	HP:0000238	Hydrocephalus
1605	DAG1	HP:0000252	Microcephaly
1605	DAG1	HP:0002878	Respiratory failure
1605	DAG1	HP:0030046	Hypoglycosylation of alpha-dystroglycan
1605	DAG1	HP:0002938	Lumbar hyperlordosis
1605	DAG1	HP:0000358	Posteriorly rotated ears
1605	DAG1	HP:0011003	High myopia
1605	DAG1	HP:0000369	Low-set ears
1605	DAG1	HP:0007957	Corneal opacity
1605	DAG1	HP:0011197	EEG with focal spike waves
1605	DAG1	HP:0007973	Retinal dysplasia
1605	DAG1	HP:0000482	Microcornea
1605	DAG1	HP:0012400	Abnormal circulating aldolase concentration
1605	DAG1	HP:0000411	Protruding ear
1605	DAG1	HP:0006785	Limb-girdle muscular dystrophy
1605	DAG1	HP:0000518	Cataract
1605	DAG1	HP:0000528	Anophthalmia
1605	DAG1	HP:0000501	Glaucoma
1605	DAG1	HP:0000587	Abnormal optic nerve morphology
1605	DAG1	HP:0000557	Buphthalmos
1605	DAG1	HP:0000556	Retinal dystrophy
1605	DAG1	HP:0000568	Microphthalmia
1605	DAG1	HP:0000541	Retinal detachment
1610	DAO	HP:0001257	Spasticity
1610	DAO	HP:0007373	Motor neuron atrophy
1610	DAO	HP:0007354	Amyotrophic lateral sclerosis
1610	DAO	HP:0025425	Laryngospasm
1610	DAO	HP:0002795	Abnormal respiratory system physiology
1610	DAO	HP:0002017	Nausea and vomiting
1610	DAO	HP:0003324	Generalized muscle weakness
1610	DAO	HP:0002094	Dyspnea
1610	DAO	HP:0003394	Muscle spasm
1610	DAO	HP:0003470	Paralysis
1610	DAO	HP:0002180	Neurodegeneration
1610	DAO	HP:0000739	Anxiety
1610	DAO	HP:0000716	Depression
1610	DAO	HP:0000712	Emotional lability
1610	DAO	HP:0000713	Agitation
1610	DAO	HP:0003202	Skeletal muscle atrophy
1610	DAO	HP:0000217	Xerostomia
1610	DAO	HP:0002878	Respiratory failure
1610	DAO	HP:0012378	Fatigue
1610	DAO	HP:0030196	Fatigable weakness of respiratory muscles
1610	DAO	HP:0030195	Fatigable weakness of swallowing muscles
1610	DAO	HP:0030192	Fatigable weakness of bulbar muscles
1610	DAO	HP:0012531	Pain
1615	DARS1	HP:0001270	Motor delay
1615	DARS1	HP:0001256	Intellectual disability, mild
1615	DARS1	HP:0001250	Seizure
1615	DARS1	HP:0001251	Ataxia
1615	DARS1	HP:0001264	Spastic diplegia
1615	DARS1	HP:0001260	Dysarthria
1615	DARS1	HP:0001348	Brisk reflexes
1615	DARS1	HP:0000007	Autosomal recessive inheritance
1615	DARS1	HP:0008936	Axial hypotonia
1615	DARS1	HP:0002061	Lower limb spasticity
1615	DARS1	HP:0002079	Hypoplasia of the corpus callosum
1615	DARS1	HP:0002144	Tethered cord
1615	DARS1	HP:0003487	Babinski sign
1615	DARS1	HP:0003429	CNS hypomyelination
1615	DARS1	HP:0003593	Infantile onset
1615	DARS1	HP:0010729	Cherry red spot of the macula
1615	DARS1	HP:0003676	Progressive
1615	DARS1	HP:0002352	Leukoencephalopathy
1615	DARS1	HP:0000639	Nystagmus
1615	DARS1	HP:0000737	Irritability
1615	DARS1	HP:0011463	Childhood onset
1615	DARS1	HP:0003298	Spina bifida occulta
1615	DARS1	HP:0000543	Optic disc pallor
1616	DAXX	HP:0002574	Episodic abdominal pain
1616	DAXX	HP:0007380	Facial telangiectasia
1616	DAXX	HP:0001399	Hepatic failure
1616	DAXX	HP:0002668	Paraganglioma
1616	DAXX	HP:0002615	Hypotension
1616	DAXX	HP:0025428	Bronchospasm
1616	DAXX	HP:0002730	Chronic noninfectious lymphadenopathy
1616	DAXX	HP:0002017	Nausea and vomiting
1616	DAXX	HP:0002044	Zollinger-Ellison syndrome
1616	DAXX	HP:0002039	Anorexia
1616	DAXX	HP:0100570	Carcinoid tumor
1616	DAXX	HP:0002240	Hepatomegaly
1616	DAXX	HP:0002254	Intermittent diarrhea
1616	DAXX	HP:0002249	Melena
1616	DAXX	HP:0002248	Hematemesis
1616	DAXX	HP:0001005	Dermatological manifestations of systemic disorders
1616	DAXX	HP:0025085	Bloody diarrhea
1616	DAXX	HP:0001962	Palpitations
1616	DAXX	HP:0004385	Protracted diarrhea
1616	DAXX	HP:0004396	Poor appetite
1616	DAXX	HP:0012701	Bowel urgency
1616	DAXX	HP:0003154	Increased circulating ACTH level
1616	DAXX	HP:0003144	Increased serum serotonin
1616	DAXX	HP:0002910	Elevated hepatic transaminase
1616	DAXX	HP:0005180	Tricuspid regurgitation
1616	DAXX	HP:0030149	Cardiogenic shock
1616	DAXX	HP:0030145	Lack of bowel sounds
1616	DAXX	HP:0001708	Right ventricular failure
1616	DAXX	HP:0031566	Abnormal pulmonary valve cusp morphology
1616	DAXX	HP:0030446	Atypical pulmonary carcinoid tumor
1616	DAXX	HP:0001824	Weight loss
1616	DAXX	HP:0001891	Iron deficiency anemia
1617	DAZ1	HP:0008734	Decreased testicular size
1617	DAZ1	HP:0008669	Abnormal spermatogenesis
1617	DAZ1	HP:0000028	Cryptorchidism
1617	DAZ1	HP:0000027	Azoospermia
1617	DAZ1	HP:0001450	Y-linked inheritance
1617	DAZ1	HP:0011961	Non-obstructive azoospermia
1617	DAZ1	HP:0011462	Young adult onset
1617	DAZ1	HP:0000798	Oligospermia
1617	DAZ1	HP:0003251	Male infertility
1621	DBH	HP:0001156	Brachydactyly
1621	DBH	HP:0001278	Orthostatic hypotension
1621	DBH	HP:0001279	Syncope
1621	DBH	HP:0001250	Seizure
1621	DBH	HP:0001252	Hypotonia
1621	DBH	HP:0001265	Hyporeflexia
1621	DBH	HP:0001382	Joint hypermobility
1621	DBH	HP:0000017	Nocturia
1621	DBH	HP:0000007	Autosomal recessive inheritance
1621	DBH	HP:0001315	Reduced tendon reflexes
1621	DBH	HP:0001488	Bilateral ptosis
1621	DBH	HP:0002014	Diarrhea
1621	DBH	HP:0002013	Vomiting
1621	DBH	HP:0005964	Intermittent hypothermia
1621	DBH	HP:0002094	Dyspnea
1621	DBH	HP:0002045	Hypothermia
1621	DBH	HP:0008202	Reduced circulating prolactin concentration
1621	DBH	HP:0003577	Congenital onset
1621	DBH	HP:0100749	Chest pain
1621	DBH	HP:0011979	Elevated urinary dopamine
1621	DBH	HP:0002360	Sleep disturbance
1621	DBH	HP:0002321	Vertigo
1621	DBH	HP:0001944	Dehydration
1621	DBH	HP:0001943	Hypoglycemia
1621	DBH	HP:0000622	Blurred vision
1621	DBH	HP:0001903	Anemia
1621	DBH	HP:0009020	Exercise-induced muscle fatigue
1621	DBH	HP:0012670	Orthostatic syncope
1621	DBH	HP:0001998	Neonatal hypoglycemia
1621	DBH	HP:0003115	Abnormal EKG
1621	DBH	HP:0003138	Increased blood urea nitrogen
1621	DBH	HP:0000855	Insulin resistance
1621	DBH	HP:0000842	Hyperinsulinemia
1621	DBH	HP:0012877	Retrograde ejaculation
1621	DBH	HP:0003259	Elevated circulating creatinine concentration
1621	DBH	HP:0005110	Atrial fibrillation
1621	DBH	HP:0000218	High palate
1621	DBH	HP:0012378	Fatigue
1621	DBH	HP:0012384	Rhinitis
1621	DBH	HP:0002917	Hypomagnesemia
1621	DBH	HP:0030319	Weakness of facial musculature
1621	DBH	HP:0001742	Nasal congestion
1621	DBH	HP:0000508	Ptosis
1629	DBT	HP:0001290	Generalized hypotonia
1629	DBT	HP:0001276	Hypertonia
1629	DBT	HP:0001254	Lethargy
1629	DBT	HP:0001250	Seizure
1629	DBT	HP:0001252	Hypotonia
1629	DBT	HP:0001251	Ataxia
1629	DBT	HP:0001249	Intellectual disability
1629	DBT	HP:0001259	Coma
1629	DBT	HP:0008872	Feeding difficulties in infancy
1629	DBT	HP:0000007	Autosomal recessive inheritance
1629	DBT	HP:0410066	Increased level of hippuric acid in urine
1629	DBT	HP:0002013	Vomiting
1629	DBT	HP:0033155	Elevated circulating L-alloisoleucine concentration
1629	DBT	HP:0002181	Cerebral edema
1629	DBT	HP:0008344	Elevated plasma branched chain amino acids
1629	DBT	HP:0001943	Hypoglycemia
1629	DBT	HP:0001946	Ketosis
1629	DBT	HP:0031796	Recurrent
1629	DBT	HP:0000738	Hallucinations
1629	DBT	HP:0003128	Lactic acidosis
1629	DBT	HP:0001507	Growth abnormality
1629	DBT	HP:0001733	Pancreatitis
1630	DCC	HP:0002492	Morphological abnormality of the corticospinal tract
1630	DCC	HP:0025101	Dysgenesis of the hippocampus
1630	DCC	HP:0001274	Agenesis of corpus callosum
1630	DCC	HP:0001269	Hemiparesis
1630	DCC	HP:0001288	Gait disturbance
1630	DCC	HP:0001256	Intellectual disability, mild
1630	DCC	HP:0001250	Seizure
1630	DCC	HP:0001252	Hypotonia
1630	DCC	HP:0001251	Ataxia
1630	DCC	HP:0001249	Intellectual disability
1630	DCC	HP:0001260	Dysarthria
1630	DCC	HP:0001263	Global developmental delay
1630	DCC	HP:0008734	Decreased testicular size
1630	DCC	HP:0008736	Hypoplasia of penis
1630	DCC	HP:0033646	Absent hippocampal commissure
1630	DCC	HP:0033645	Midline brainstem cleft
1630	DCC	HP:0003829	Typified by incomplete penetrance
1630	DCC	HP:0032327	Interhemispheric cyst
1630	DCC	HP:0000044	Hypogonadotropic hypogonadism
1630	DCC	HP:0000054	Micropenis
1630	DCC	HP:0001347	Hyperreflexia
1630	DCC	HP:0000028	Cryptorchidism
1630	DCC	HP:0001328	Specific learning disability
1630	DCC	HP:0001324	Muscle weakness
1630	DCC	HP:0000008	Abnormal morphology of female internal genitalia
1630	DCC	HP:0000007	Autosomal recessive inheritance
1630	DCC	HP:0001335	Bimanual synkinesia
1630	DCC	HP:0001337	Tremor
1630	DCC	HP:0000006	Autosomal dominant inheritance
1630	DCC	HP:0002652	Skeletal dysplasia
1630	DCC	HP:0002650	Scoliosis
1630	DCC	HP:0000175	Cleft palate
1630	DCC	HP:0000144	Decreased fertility
1630	DCC	HP:0012110	Hypoplasia of the pons
1630	DCC	HP:0002757	Recurrent fractures
1630	DCC	HP:0001428	Somatic mutation
1630	DCC	HP:0000104	Renal agenesis
1630	DCC	HP:0002750	Delayed skeletal maturation
1630	DCC	HP:0003326	Myalgia
1630	DCC	HP:0100543	Cognitive impairment
1630	DCC	HP:0003388	Easy fatigability
1630	DCC	HP:0010550	Paraplegia
1630	DCC	HP:0003593	Infantile onset
1630	DCC	HP:0003577	Congenital onset
1630	DCC	HP:0010664	Fusion of the left and right thalami
1630	DCC	HP:0007010	Poor fine motor coordination
1630	DCC	HP:0002317	Unsteady gait
1630	DCC	HP:0009804	Tooth agenesis
1630	DCC	HP:0100639	Erectile dysfunction
1630	DCC	HP:0002312	Clumsiness
1630	DCC	HP:0005584	Renal cell carcinoma
1630	DCC	HP:0000639	Nystagmus
1630	DCC	HP:0030680	Abnormality of cardiovascular system morphology
1630	DCC	HP:0004349	Reduced bone mineral density
1630	DCC	HP:0000771	Gynecomastia
1630	DCC	HP:0100021	Cerebral palsy
1630	DCC	HP:0100022	Abnormality of movement
1630	DCC	HP:0000750	Delayed speech and language development
1630	DCC	HP:0011459	Esophageal carcinoma
1630	DCC	HP:0011461	Fetal onset
1630	DCC	HP:0000786	Primary amenorrhea
1630	DCC	HP:0004409	Hyposmia
1630	DCC	HP:0003187	Breast hypoplasia
1630	DCC	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
1630	DCC	HP:0000830	Anterior hypopituitarism
1630	DCC	HP:0000823	Delayed puberty
1630	DCC	HP:0008064	Ichthyosis
1630	DCC	HP:0002808	Kyphosis
1630	DCC	HP:0000238	Hydrocephalus
1630	DCC	HP:0002891	Uterine leiomyosarcoma
1630	DCC	HP:0030016	Dyspareunia
1630	DCC	HP:0001513	Obesity
1630	DCC	HP:0007817	Horizontal supranuclear gaze palsy
1630	DCC	HP:0001608	Abnormality of the voice
1630	DCC	HP:0002949	Fused cervical vertebrae
1630	DCC	HP:0030301	Abnormality of the anterior commissure
1630	DCC	HP:0000407	Sensorineural hearing impairment
1630	DCC	HP:0000458	Anosmia
1630	DCC	HP:0000470	Short neck
1630	DCC	HP:0001763	Pes planus
1630	DCC	HP:0001761	Pes cavus
1630	DCC	HP:0006753	Neoplasm of the stomach
1630	DCC	HP:0006740	Transitional cell carcinoma of the bladder
1630	DCC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
1630	DCC	HP:0000508	Ptosis
1630	DCC	HP:0000505	Visual impairment
1630	DCC	HP:0000551	Color vision defect
1634	DCN	HP:0001131	Corneal dystrophy
1634	DCN	HP:0000006	Autosomal dominant inheritance
1634	DCN	HP:0200020	Corneal erosion
1634	DCN	HP:0003623	Neonatal onset
1634	DCN	HP:0000613	Photophobia
1634	DCN	HP:0011487	Increased corneal thickness
1634	DCN	HP:0007709	Band-shaped corneal dystrophy
1634	DCN	HP:0000486	Strabismus
1634	DCN	HP:0000529	Progressive visual loss
1634	DCN	HP:0000501	Glaucoma
1636	ACE	HP:0008660	Renotubular dysgenesis
1636	ACE	HP:0000079	Abnormality of the urinary system
1636	ACE	HP:0000007	Autosomal recessive inheritance
1636	ACE	HP:0002615	Hypotension
1636	ACE	HP:0002009	Potter facies
1636	ACE	HP:0002089	Pulmonary hypoplasia
1636	ACE	HP:0002093	Respiratory insufficiency
1636	ACE	HP:0100519	Anuria
1636	ACE	HP:0004492	Widely patent fontanelles and sutures
1636	ACE	HP:0000252	Microcephaly
1636	ACE	HP:0001562	Oligohydramnios
1638	DCT	HP:0000007	Autosomal recessive inheritance
1638	DCT	HP:0007663	Reduced visual acuity
1638	DCT	HP:0003577	Congenital onset
1638	DCT	HP:0001010	Hypopigmentation of the skin
1638	DCT	HP:0005599	Hypopigmentation of hair
1638	DCT	HP:0000639	Nystagmus
1638	DCT	HP:0000613	Photophobia
1638	DCT	HP:0012805	Iris transillumination defect
1638	DCT	HP:0040030	Chorioretinal hypopigmentation
1638	DCT	HP:0007750	Hypoplasia of the fovea
1639	DCTN1	HP:0002460	Distal muscle weakness
1639	DCTN1	HP:0002476	Primitive reflex
1639	DCTN1	HP:0007311	Short stepped shuffling gait
1639	DCTN1	HP:0001260	Dysarthria
1639	DCTN1	HP:0001257	Spasticity
1639	DCTN1	HP:0007373	Motor neuron atrophy
1639	DCTN1	HP:0007354	Amyotrophic lateral sclerosis
1639	DCTN1	HP:0007340	Lower limb muscle weakness
1639	DCTN1	HP:0001347	Hyperreflexia
1639	DCTN1	HP:0001332	Dystonia
1639	DCTN1	HP:0001324	Muscle weakness
1639	DCTN1	HP:0000007	Autosomal recessive inheritance
1639	DCTN1	HP:0001337	Tremor
1639	DCTN1	HP:0000006	Autosomal dominant inheritance
1639	DCTN1	HP:0002615	Hypotension
1639	DCTN1	HP:0001300	Parkinsonism
1639	DCTN1	HP:0025425	Laryngospasm
1639	DCTN1	HP:0002795	Abnormal respiratory system physiology
1639	DCTN1	HP:0002791	Hypoventilation
1639	DCTN1	HP:0002017	Nausea and vomiting
1639	DCTN1	HP:0002015	Dysphagia
1639	DCTN1	HP:0003324	Generalized muscle weakness
1639	DCTN1	HP:0005943	Respiratory arrest
1639	DCTN1	HP:0002094	Dyspnea
1639	DCTN1	HP:0002093	Respiratory insufficiency
1639	DCTN1	HP:0002067	Bradykinesia
1639	DCTN1	HP:0003394	Muscle spasm
1639	DCTN1	HP:0002063	Rigidity
1639	DCTN1	HP:0002071	Abnormality of extrapyramidal motor function
1639	DCTN1	HP:0002145	Frontotemporal dementia
1639	DCTN1	HP:0003470	Paralysis
1639	DCTN1	HP:0002180	Neurodegeneration
1639	DCTN1	HP:0010535	Sleep apnea
1639	DCTN1	HP:0003581	Adult onset
1639	DCTN1	HP:0100785	Insomnia
1639	DCTN1	HP:0007024	Pseudobulbar paralysis
1639	DCTN1	HP:0002380	Fasciculations
1639	DCTN1	HP:0002398	Degeneration of anterior horn cells
1639	DCTN1	HP:0002366	Abnormal lower motor neuron morphology
1639	DCTN1	HP:0003693	Distal amyotrophy
1639	DCTN1	HP:0002360	Sleep disturbance
1639	DCTN1	HP:0003677	Slowly progressive
1639	DCTN1	HP:0003678	Rapidly progressive
1639	DCTN1	HP:0002314	Degeneration of the lateral corticospinal tracts
1639	DCTN1	HP:0007110	Central hypoventilation
1639	DCTN1	HP:0002304	Akinesia
1639	DCTN1	HP:0000751	Personality changes
1639	DCTN1	HP:0000739	Anxiety
1639	DCTN1	HP:0000734	Disinhibition
1639	DCTN1	HP:0000741	Apathy
1639	DCTN1	HP:0000719	Inappropriate behavior
1639	DCTN1	HP:0000716	Depression
1639	DCTN1	HP:0000712	Emotional lability
1639	DCTN1	HP:0000713	Agitation
1639	DCTN1	HP:0000710	Hyperorality
1639	DCTN1	HP:0000726	Dementia
1639	DCTN1	HP:0009130	Hand muscle atrophy
1639	DCTN1	HP:0003202	Skeletal muscle atrophy
1639	DCTN1	HP:0000298	Mask-like facies
1639	DCTN1	HP:0000217	Xerostomia
1639	DCTN1	HP:0002878	Respiratory failure
1639	DCTN1	HP:0012378	Fatigue
1639	DCTN1	HP:0001605	Vocal cord paralysis
1639	DCTN1	HP:0030196	Fatigable weakness of respiratory muscles
1639	DCTN1	HP:0030195	Fatigable weakness of swallowing muscles
1639	DCTN1	HP:0030192	Fatigable weakness of bulbar muscles
1639	DCTN1	HP:0001621	Weak voice
1639	DCTN1	HP:0030319	Weakness of facial musculature
1639	DCTN1	HP:0030237	Hand muscle weakness
1639	DCTN1	HP:0031589	Suicidal ideation
1639	DCTN1	HP:0000511	Vertical supranuclear gaze palsy
1639	DCTN1	HP:0001824	Weight loss
1639	DCTN1	HP:0012531	Pain
1641	DCX	HP:0002463	Language impairment
1641	DCX	HP:0001274	Agenesis of corpus callosum
1641	DCX	HP:0001270	Motor delay
1641	DCX	HP:0001250	Seizure
1641	DCX	HP:0001251	Ataxia
1641	DCX	HP:0001249	Intellectual disability
1641	DCX	HP:0001260	Dysarthria
1641	DCX	HP:0001257	Spasticity
1641	DCX	HP:0007359	Focal-onset seizure
1641	DCX	HP:0002521	Hypsarrhythmia
1641	DCX	HP:0003829	Typified by incomplete penetrance
1641	DCX	HP:0003808	Abnormal muscle tone
1641	DCX	HP:0001371	Flexion contracture
1641	DCX	HP:0000054	Micropenis
1641	DCX	HP:0008897	Postnatal growth retardation
1641	DCX	HP:0008872	Feeding difficulties in infancy
1641	DCX	HP:0001339	Lissencephaly
1641	DCX	HP:0001302	Pachygyria
1641	DCX	HP:0002650	Scoliosis
1641	DCX	HP:0008936	Axial hypotonia
1641	DCX	HP:0001417	X-linked inheritance
1641	DCX	HP:0002015	Dysphagia
1641	DCX	HP:0100543	Cognitive impairment
1641	DCX	HP:0002079	Hypoplasia of the corpus callosum
1641	DCX	HP:0002197	Generalized-onset seizure
1641	DCX	HP:0003593	Infantile onset
1641	DCX	HP:0200134	Epileptic encephalopathy
1641	DCX	HP:0002282	Gray matter heterotopia
1641	DCX	HP:0007015	Poor gross motor coordination
1641	DCX	HP:0002339	Abnormal caudate nucleus morphology
1641	DCX	HP:0031882	Agyria
1641	DCX	HP:0000639	Nystagmus
1641	DCX	HP:0012672	Akinetic mutism
1641	DCX	HP:0006956	Lateral ventricle dilatation
1641	DCX	HP:0100021	Cerebral palsy
1641	DCX	HP:0000737	Irritability
1641	DCX	HP:0000713	Agitation
1641	DCX	HP:0000729	Autistic behavior
1641	DCX	HP:0000708	Atypical behavior
1641	DCX	HP:0012762	Cerebral white matter atrophy
1641	DCX	HP:0001522	Death in infancy
1641	DCX	HP:0002835	Aspiration
1641	DCX	HP:0012469	Infantile spasms
1641	DCX	HP:0012448	Delayed myelination
1641	DCX	HP:0005484	Secondary microcephaly
1641	DCX	HP:0012520	Dilation of Virchow-Robin spaces
1642	DDB1	HP:0020206	Simple ear
1642	DDB1	HP:0001252	Hypotonia
1642	DDB1	HP:0001249	Intellectual disability
1642	DDB1	HP:0000085	Horseshoe kidney
1642	DDB1	HP:0000072	Hydroureter
1642	DDB1	HP:0001385	Hip dysplasia
1642	DDB1	HP:0001388	Joint laxity
1642	DDB1	HP:0000006	Autosomal dominant inheritance
1642	DDB1	HP:0000143	Rectovaginal fistula
1642	DDB1	HP:0000154	Wide mouth
1642	DDB1	HP:0000126	Hydronephrosis
1642	DDB1	HP:0002020	Gastroesophageal reflux
1642	DDB1	HP:0011800	Midface retrusion
1642	DDB1	HP:0003593	Infantile onset
1642	DDB1	HP:0007018	Attention deficit hyperactivity disorder
1642	DDB1	HP:0020045	Esodeviation
1642	DDB1	HP:0010804	Tented upper lip vermilion
1642	DDB1	HP:0003621	Juvenile onset
1642	DDB1	HP:0000639	Nystagmus
1642	DDB1	HP:0000637	Long palpebral fissure
1642	DDB1	HP:0000601	Hypotelorism
1642	DDB1	HP:0034003	Broad medial eyebrow
1642	DDB1	HP:0011330	Metopic synostosis
1642	DDB1	HP:0000664	Synophrys
1642	DDB1	HP:0006989	Dysplastic corpus callosum
1642	DDB1	HP:0012745	Short palpebral fissure
1642	DDB1	HP:0000739	Anxiety
1642	DDB1	HP:0011463	Childhood onset
1642	DDB1	HP:0003196	Short nose
1642	DDB1	HP:0000821	Hypothyroidism
1642	DDB1	HP:0000286	Epicanthus
1642	DDB1	HP:0000278	Retrognathia
1642	DDB1	HP:0000293	Full cheeks
1642	DDB1	HP:0000219	Thin upper lip vermilion
1642	DDB1	HP:0001545	Anteriorly placed anus
1642	DDB1	HP:0002870	Obstructive sleep apnea
1642	DDB1	HP:0001513	Obesity
1642	DDB1	HP:0000369	Low-set ears
1642	DDB1	HP:0000403	Recurrent otitis media
1642	DDB1	HP:0000400	Macrotia
1642	DDB1	HP:0005280	Depressed nasal bridge
1642	DDB1	HP:0000463	Anteverted nares
1642	DDB1	HP:0000430	Underdeveloped nasal alae
1642	DDB1	HP:0000527	Long eyelashes
1642	DDB1	HP:0000506	Telecanthus
1642	DDB1	HP:0000582	Upslanted palpebral fissure
1642	DDB1	HP:0011228	Horizontal eyebrow
1642	DDB1	HP:0000574	Thick eyebrow
1642	DDB1	HP:0000537	Epicanthus inversus
1643	DDB2	HP:0001250	Seizure
1643	DDB2	HP:0001251	Ataxia
1643	DDB2	HP:0001257	Spasticity
1643	DDB2	HP:0008734	Decreased testicular size
1643	DDB2	HP:0000028	Cryptorchidism
1643	DDB2	HP:0002664	Neoplasm
1643	DDB2	HP:0002671	Basal cell carcinoma
1643	DDB2	HP:0000007	Autosomal recessive inheritance
1643	DDB2	HP:0001315	Reduced tendon reflexes
1643	DDB2	HP:0000164	Abnormality of the dentition
1643	DDB2	HP:0000135	Hypogonadism
1643	DDB2	HP:0001480	Freckling
1643	DDB2	HP:0002750	Delayed skeletal maturation
1643	DDB2	HP:0003355	Aminoaciduria
1643	DDB2	HP:0100543	Cognitive impairment
1643	DDB2	HP:0002071	Abnormality of extrapyramidal motor function
1643	DDB2	HP:0100585	Telangiectasia of the skin
1643	DDB2	HP:0002120	Cerebral cortical atrophy
1643	DDB2	HP:0010649	Flat nasal alae
1643	DDB2	HP:0001053	Hypopigmented skin patches
1643	DDB2	HP:0001059	Pterygium
1643	DDB2	HP:0001034	Hypermelanotic macule
1643	DDB2	HP:0001029	Poikiloderma
1643	DDB2	HP:0002376	Developmental regression
1643	DDB2	HP:0001009	Telangiectasia
1643	DDB2	HP:0002353	EEG abnormality
1643	DDB2	HP:0009830	Peripheral neuropathy
1643	DDB2	HP:0001072	Thickened skin
1643	DDB2	HP:0010783	Erythema
1643	DDB2	HP:0009755	Ankyloblepharon
1643	DDB2	HP:0006887	Intellectual disability, progressive
1643	DDB2	HP:0000648	Optic atrophy
1643	DDB2	HP:0000613	Photophobia
1643	DDB2	HP:0001945	Fever
1643	DDB2	HP:0000621	Entropion
1643	DDB2	HP:0000656	Ectropion
1643	DDB2	HP:0004322	Short stature
1643	DDB2	HP:0004334	Dermal atrophy
1643	DDB2	HP:0003079	Defective DNA repair after ultraviolet radiation damage
1643	DDB2	HP:0100012	Neoplasm of the eye
1643	DDB2	HP:0012733	Macule
1643	DDB2	HP:0012740	Papilloma
1643	DDB2	HP:0004493	Craniofacial hyperostosis
1643	DDB2	HP:0000995	Melanocytic nevus
1643	DDB2	HP:0000992	Cutaneous photosensitivity
1643	DDB2	HP:0000958	Dry skin
1643	DDB2	HP:0000963	Thin skin
1643	DDB2	HP:0000962	Hyperkeratosis
1643	DDB2	HP:0001596	Alopecia
1643	DDB2	HP:0007759	Opacification of the corneal stroma
1643	DDB2	HP:0002829	Arthralgia
1643	DDB2	HP:0000252	Microcephaly
1643	DDB2	HP:0002861	Melanoma
1643	DDB2	HP:0001508	Failure to thrive
1643	DDB2	HP:0012378	Fatigue
1643	DDB2	HP:0000365	Hearing impairment
1643	DDB2	HP:0000498	Blepharitis
1643	DDB2	HP:0000407	Sensorineural hearing impairment
1643	DDB2	HP:0000486	Strabismus
1643	DDB2	HP:0000491	Keratitis
1643	DDB2	HP:0006739	Squamous cell carcinoma of the skin
1643	DDB2	HP:0000518	Cataract
1643	DDB2	HP:0000524	Conjunctival telangiectasia
1643	DDB2	HP:0000509	Conjunctivitis
1644	DDC	HP:0003785	Decreased CSF homovanillic acid concentration
1644	DDC	HP:0002451	Limb dystonia
1644	DDC	HP:0001254	Lethargy
1644	DDC	HP:0001266	Choreoathetosis
1644	DDC	HP:0001263	Global developmental delay
1644	DDC	HP:0002509	Limb hypertonia
1644	DDC	HP:0001347	Hyperreflexia
1644	DDC	HP:0008872	Feeding difficulties in infancy
1644	DDC	HP:0000007	Autosomal recessive inheritance
1644	DDC	HP:0001336	Myoclonus
1644	DDC	HP:0002615	Hypotension
1644	DDC	HP:0008936	Axial hypotonia
1644	DDC	HP:0002020	Gastroesophageal reflux
1644	DDC	HP:0002019	Constipation
1644	DDC	HP:0002014	Diarrhea
1644	DDC	HP:0005968	Temperature instability
1644	DDC	HP:0005964	Intermittent hypothermia
1644	DDC	HP:0003487	Babinski sign
1644	DDC	HP:0002104	Apnea
1644	DDC	HP:0010553	Oculogyric crisis
1644	DDC	HP:0002267	Exaggerated startle response
1644	DDC	HP:0003593	Infantile onset
1644	DDC	HP:0100703	Tongue thrusting
1644	DDC	HP:0200085	Limb tremor
1644	DDC	HP:0002360	Sleep disturbance
1644	DDC	HP:0002374	Diminished movement
1644	DDC	HP:0002305	Athetosis
1644	DDC	HP:0000643	Blepharospasm
1644	DDC	HP:0000616	Miosis
1644	DDC	HP:0000737	Irritability
1644	DDC	HP:0000712	Emotional lability
1644	DDC	HP:0000975	Hyperhidrosis
1644	DDC	HP:0000271	Abnormality of the face
1644	DDC	HP:0006543	Cardiorespiratory arrest
1644	DDC	HP:0000473	Torticollis
1644	DDC	HP:0001742	Nasal congestion
1644	DDC	HP:0000508	Ptosis
1646	AKR1C2	HP:0000062	Ambiguous genitalia
1646	AKR1C2	HP:0000037	Male pseudohermaphroditism
1646	AKR1C2	HP:0000028	Cryptorchidism
1646	AKR1C2	HP:0000007	Autosomal recessive inheritance
1646	AKR1C2	HP:0012245	Sex reversal
1649	DDIT3	HP:0002579	Gastrointestinal dysmotility
1649	DDIT3	HP:0001482	Subcutaneous nodule
1649	DDIT3	HP:0002027	Abdominal pain
1650	DDOST	HP:0007301	Oromotor apraxia
1650	DDOST	HP:0001290	Generalized hypotonia
1650	DDOST	HP:0001250	Seizure
1650	DDOST	HP:0001252	Hypotonia
1650	DDOST	HP:0001263	Global developmental delay
1650	DDOST	HP:0001397	Hepatic steatosis
1650	DDOST	HP:0000007	Autosomal recessive inheritance
1650	DDOST	HP:0001337	Tremor
1650	DDOST	HP:0410018	Recurrent ear infections
1650	DDOST	HP:0001410	Decreased liver function
1650	DDOST	HP:0002020	Gastroesophageal reflux
1650	DDOST	HP:0002019	Constipation
1650	DDOST	HP:0003429	CNS hypomyelination
1650	DDOST	HP:0002167	Abnormality of speech or vocalization
1650	DDOST	HP:0003593	Infantile onset
1650	DDOST	HP:0003642	Type I transferrin isoform profile
1650	DDOST	HP:0004322	Short stature
1650	DDOST	HP:0005616	Accelerated skeletal maturation
1650	DDOST	HP:0031936	Delayed ability to walk
1650	DDOST	HP:0009125	Lipodystrophy
1650	DDOST	HP:0012758	Neurodevelopmental delay
1650	DDOST	HP:0000832	Primary hypothyroidism
1650	DDOST	HP:0003256	Abnormality of the coagulation cascade
1650	DDOST	HP:0000958	Dry skin
1650	DDOST	HP:0000938	Osteopenia
1650	DDOST	HP:0001508	Failure to thrive
1650	DDOST	HP:0002910	Elevated hepatic transaminase
1650	DDOST	HP:0000486	Strabismus
1650	DDOST	HP:0012450	Chronic constipation
1650	DDOST	HP:0012593	Nephrotic range proteinuria
1650	DDOST	HP:0000565	Esotropia
1654	DDX3X	HP:0001290	Generalized hypotonia
1654	DDX3X	HP:0001250	Seizure
1654	DDX3X	HP:0001252	Hypotonia
1654	DDX3X	HP:0001249	Intellectual disability
1654	DDX3X	HP:0001263	Global developmental delay
1654	DDX3X	HP:0001257	Spasticity
1654	DDX3X	HP:0002539	Cortical dysplasia
1654	DDX3X	HP:0001388	Joint laxity
1654	DDX3X	HP:0002650	Scoliosis
1654	DDX3X	HP:0000193	Bifid uvula
1654	DDX3X	HP:0000175	Cleft palate
1654	DDX3X	HP:0001423	X-linked dominant inheritance
1654	DDX3X	HP:0001419	X-linked recessive inheritance
1654	DDX3X	HP:0002079	Hypoplasia of the corpus callosum
1654	DDX3X	HP:0002119	Ventriculomegaly
1654	DDX3X	HP:0002136	Broad-based gait
1654	DDX3X	HP:0003593	Infantile onset
1654	DDX3X	HP:0001000	Abnormality of skin pigmentation
1654	DDX3X	HP:0100660	Dyskinesia
1654	DDX3X	HP:0001999	Abnormal facial shape
1654	DDX3X	HP:0004325	Decreased body weight
1654	DDX3X	HP:0000752	Hyperactivity
1654	DDX3X	HP:0000718	Aggressive behavior
1654	DDX3X	HP:0000729	Autistic behavior
1654	DDX3X	HP:0000826	Precocious puberty
1654	DDX3X	HP:0000276	Long face
1654	DDX3X	HP:0000252	Microcephaly
1654	DDX3X	HP:0000248	Brachycephaly
1654	DDX3X	HP:0000202	Orofacial cleft
1654	DDX3X	HP:0000204	Cleft upper lip
1654	DDX3X	HP:0005164	Dysplastic pulmonary valve
1654	DDX3X	HP:0000365	Hearing impairment
1654	DDX3X	HP:0000316	Hypertelorism
1654	DDX3X	HP:0000486	Strabismus
1654	DDX3X	HP:0000463	Anteverted nares
1654	DDX3X	HP:0000414	Bulbous nose
1654	DDX3X	HP:0000431	Wide nasal bridge
1654	DDX3X	HP:0000505	Visual impairment
1654	DDX3X	HP:0000504	Abnormality of vision
1656	DDX6	HP:0001182	Tapered finger
1656	DDX6	HP:0009916	Anisocoria
1656	DDX6	HP:0001195	Single umbilical artery
1656	DDX6	HP:0001252	Hypotonia
1656	DDX6	HP:0001249	Intellectual disability
1656	DDX6	HP:0001263	Global developmental delay
1656	DDX6	HP:0002558	Supernumerary nipple
1656	DDX6	HP:0002553	Highly arched eyebrow
1656	DDX6	HP:0031014	Arteria lusoria
1656	DDX6	HP:0000076	Vesicoureteral reflux
1656	DDX6	HP:0000054	Micropenis
1656	DDX6	HP:0000023	Inguinal hernia
1656	DDX6	HP:0000028	Cryptorchidism
1656	DDX6	HP:0000006	Autosomal dominant inheritance
1656	DDX6	HP:0002650	Scoliosis
1656	DDX6	HP:0008936	Axial hypotonia
1656	DDX6	HP:0000125	Pelvic kidney
1656	DDX6	HP:0000126	Hydronephrosis
1656	DDX6	HP:0002719	Recurrent infections
1656	DDX6	HP:0004691	2-3 toe syndactyly
1656	DDX6	HP:0002007	Frontal bossing
1656	DDX6	HP:0002079	Hypoplasia of the corpus callosum
1656	DDX6	HP:0002188	Delayed CNS myelination
1656	DDX6	HP:0011968	Feeding difficulties
1656	DDX6	HP:0002355	Difficulty walking
1656	DDX6	HP:0100694	Tibial torsion
1656	DDX6	HP:0005616	Accelerated skeletal maturation
1656	DDX6	HP:0000750	Delayed speech and language development
1656	DDX6	HP:0004409	Hyposmia
1656	DDX6	HP:0000992	Cutaneous photosensitivity
1656	DDX6	HP:0045025	Narrow palpebral fissure
1656	DDX6	HP:0000286	Epicanthus
1656	DDX6	HP:0000270	Delayed cranial suture closure
1656	DDX6	HP:0000252	Microcephaly
1656	DDX6	HP:0000218	High palate
1656	DDX6	HP:0001545	Anteriorly placed anus
1656	DDX6	HP:0001562	Oligohydramnios
1656	DDX6	HP:0001513	Obesity
1656	DDX6	HP:0000396	Overfolded helix
1656	DDX6	HP:0000369	Low-set ears
1656	DDX6	HP:0000341	Narrow forehead
1656	DDX6	HP:0000319	Smooth philtrum
1656	DDX6	HP:0000316	Hypertelorism
1656	DDX6	HP:0030148	Heart murmur
1656	DDX6	HP:0001655	Patent foramen ovale
1656	DDX6	HP:0000486	Strabismus
1656	DDX6	HP:0001845	Overlapping toe
1656	DDX6	HP:0000540	Hypermetropia
1663	DDX11	HP:0008586	Hypoplasia of the cochlea
1663	DDX11	HP:0001290	Generalized hypotonia
1663	DDX11	HP:0001252	Hypotonia
1663	DDX11	HP:0001249	Intellectual disability
1663	DDX11	HP:0001263	Global developmental delay
1663	DDX11	HP:0008897	Postnatal growth retardation
1663	DDX11	HP:0000007	Autosomal recessive inheritance
1663	DDX11	HP:0000154	Wide mouth
1663	DDX11	HP:0004691	2-3 toe syndactyly
1663	DDX11	HP:0003577	Congenital onset
1663	DDX11	HP:0001034	Hypermelanotic macule
1663	DDX11	HP:0004209	Clinodactyly of the 5th finger
1663	DDX11	HP:0000954	Single transverse palmar crease
1663	DDX11	HP:0000965	Cutis marmorata
1663	DDX11	HP:0000286	Epicanthus
1663	DDX11	HP:0000274	Small face
1663	DDX11	HP:0000252	Microcephaly
1663	DDX11	HP:0000218	High palate
1663	DDX11	HP:0001511	Intrauterine growth retardation
1663	DDX11	HP:0000378	Cupped ear
1663	DDX11	HP:0000365	Hearing impairment
1663	DDX11	HP:0000341	Narrow forehead
1663	DDX11	HP:0000340	Sloping forehead
1663	DDX11	HP:0001629	Ventricular septal defect
1663	DDX11	HP:0001636	Tetralogy of Fallot
1663	DDX11	HP:0000588	Optic disc coloboma
1674	DES	HP:0002460	Distal muscle weakness
1674	DES	HP:0020203	Z-band streaming
1674	DES	HP:0003724	Shoulder girdle muscle atrophy
1674	DES	HP:0003722	Neck flexor weakness
1674	DES	HP:0003704	Scapuloperoneal weakness
1674	DES	HP:0001283	Bulbar palsy
1674	DES	HP:0002522	Areflexia of lower limbs
1674	DES	HP:0002505	Loss of ambulation
1674	DES	HP:0003805	Rimmed vacuoles
1674	DES	HP:0000007	Autosomal recessive inheritance
1674	DES	HP:0000006	Autosomal dominant inheritance
1674	DES	HP:0002600	Hyporeflexia of lower limbs
1674	DES	HP:0002747	Respiratory insufficiency due to muscle weakness
1674	DES	HP:0002019	Constipation
1674	DES	HP:0003327	Axial muscle weakness
1674	DES	HP:0002014	Diarrhea
1674	DES	HP:0002015	Dysphagia
1674	DES	HP:0003306	Spinal rigidity
1674	DES	HP:0003323	Progressive muscle weakness
1674	DES	HP:0100578	Lipoatrophy
1674	DES	HP:0003457	EMG abnormality
1674	DES	HP:0003458	EMG: myopathic abnormalities
1674	DES	HP:0003596	Middle age onset
1674	DES	HP:0003581	Adult onset
1674	DES	HP:0010628	Facial palsy
1674	DES	HP:0003694	Late-onset proximal muscle weakness
1674	DES	HP:0002355	Difficulty walking
1674	DES	HP:0009053	Distal lower limb muscle weakness
1674	DES	HP:0009049	Peroneal muscle atrophy
1674	DES	HP:0012664	Reduced left ventricular ejection fraction
1674	DES	HP:0009027	Foot dorsiflexor weakness
1674	DES	HP:0005659	Thoracic kyphoscoliosis
1674	DES	HP:0000771	Gynecomastia
1674	DES	HP:0011462	Young adult onset
1674	DES	HP:0003198	Myopathy
1674	DES	HP:0003236	Elevated circulating creatine kinase concentration
1674	DES	HP:0000982	Palmoplantar keratoderma
1674	DES	HP:0005115	Supraventricular arrhythmia
1674	DES	HP:0030196	Fatigable weakness of respiratory muscles
1674	DES	HP:0030192	Fatigable weakness of bulbar muscles
1674	DES	HP:0005157	Concentric hypertrophic cardiomyopathy
1674	DES	HP:0001678	Atrioventricular block
1674	DES	HP:0001645	Sudden cardiac death
1674	DES	HP:0001644	Dilated cardiomyopathy
1674	DES	HP:0001662	Bradycardia
1674	DES	HP:0001640	Cardiomegaly
1674	DES	HP:0001639	Hypertrophic cardiomyopathy
1674	DES	HP:0001635	Congestive heart failure
1674	DES	HP:0030319	Weakness of facial musculature
1674	DES	HP:0006673	Reduced systolic function
1674	DES	HP:0001723	Restrictive cardiomyopathy
1674	DES	HP:0000407	Sensorineural hearing impairment
1674	DES	HP:0001709	Third degree atrioventricular block
1674	DES	HP:0000467	Neck muscle weakness
1674	DES	HP:0001762	Talipes equinovarus
1674	DES	HP:0001874	Abnormality of neutrophils
1675	CFD	HP:0000007	Autosomal recessive inheritance
1675	CFD	HP:0002718	Recurrent bacterial infections
1675	CFD	HP:0008338	Partial functional complement factor D deficiency
1678	TIMM8A	HP:0001133	Constriction of peripheral visual field
1678	TIMM8A	HP:0007325	Generalized dystonia
1678	TIMM8A	HP:0008596	Postlingual sensorineural hearing impairment
1678	TIMM8A	HP:0007256	Abnormal pyramidal sign
1678	TIMM8A	HP:0001268	Mental deterioration
1678	TIMM8A	HP:0001256	Intellectual disability, mild
1678	TIMM8A	HP:0001260	Dysarthria
1678	TIMM8A	HP:0001257	Spasticity
1678	TIMM8A	HP:0007377	Abnormality of somatosensory evoked potentials
1678	TIMM8A	HP:0002540	Inability to walk
1678	TIMM8A	HP:0002533	Abnormal posturing
1678	TIMM8A	HP:0012048	Oromandibular dystonia
1678	TIMM8A	HP:0001347	Hyperreflexia
1678	TIMM8A	HP:0001332	Dystonia
1678	TIMM8A	HP:0002659	Increased susceptibility to fractures
1678	TIMM8A	HP:0001337	Tremor
1678	TIMM8A	HP:0007663	Reduced visual acuity
1678	TIMM8A	HP:0008954	Intrinsic hand muscle atrophy
1678	TIMM8A	HP:0001419	X-linked recessive inheritance
1678	TIMM8A	HP:0002015	Dysphagia
1678	TIMM8A	HP:0003487	Babinski sign
1678	TIMM8A	HP:0002186	Apraxia
1678	TIMM8A	HP:0002172	Postural instability
1678	TIMM8A	HP:0100704	Cerebral visual impairment
1678	TIMM8A	HP:0002283	Global brain atrophy
1678	TIMM8A	HP:0011999	Paranoia
1678	TIMM8A	HP:0007018	Attention deficit hyperactivity disorder
1678	TIMM8A	HP:0011951	Aspiration pneumonia
1678	TIMM8A	HP:0002362	Shuffling gait
1678	TIMM8A	HP:0002340	Caudate atrophy
1678	TIMM8A	HP:0009830	Peripheral neuropathy
1678	TIMM8A	HP:0006801	Hyperactive deep tendon reflexes
1678	TIMM8A	HP:0000649	Abnormality of visual evoked potentials
1678	TIMM8A	HP:0000648	Optic atrophy
1678	TIMM8A	HP:0000613	Photophobia
1678	TIMM8A	HP:0000603	Central scotoma
1678	TIMM8A	HP:0004373	Focal dystonia
1678	TIMM8A	HP:0000751	Personality changes
1678	TIMM8A	HP:0000763	Sensory neuropathy
1678	TIMM8A	HP:0000726	Dementia
1678	TIMM8A	HP:0000708	Atypical behavior
1678	TIMM8A	HP:0011463	Childhood onset
1678	TIMM8A	HP:0011448	Ankle clonus
1678	TIMM8A	HP:0004432	Agammaglobulinemia
1678	TIMM8A	HP:0004463	Absent brainstem auditory responses
1678	TIMM8A	HP:0000399	Prelingual sensorineural hearing impairment
1678	TIMM8A	HP:0000375	Abnormal cochlea morphology
1678	TIMM8A	HP:0000408	Progressive sensorineural hearing impairment
1678	TIMM8A	HP:0000407	Sensorineural hearing impairment
1678	TIMM8A	HP:0001751	Abnormal vestibular function
1678	TIMM8A	HP:0000512	Abnormal electroretinogram
1678	TIMM8A	HP:0000505	Visual impairment
1678	TIMM8A	HP:0000572	Visual loss
1678	TIMM8A	HP:0000551	Color vision defect
1678	TIMM8A	HP:0000545	Myopia
1687	GSDME	HP:0000006	Autosomal dominant inheritance
1687	GSDME	HP:0000408	Progressive sensorineural hearing impairment
1690	COCH	HP:0008596	Postlingual sensorineural hearing impairment
1690	COCH	HP:0000007	Autosomal recessive inheritance
1690	COCH	HP:0000006	Autosomal dominant inheritance
1690	COCH	HP:0009591	Abnormality of the vestibulocochlear nerve
1690	COCH	HP:0003676	Progressive
1690	COCH	HP:0002321	Vertigo
1690	COCH	HP:0011462	Young adult onset
1690	COCH	HP:0005102	Cochlear degeneration
1690	COCH	HP:0000360	Tinnitus
1690	COCH	HP:0000407	Sensorineural hearing impairment
1690	COCH	HP:0001751	Abnormal vestibular function
1716	DGUOK	HP:0003797	Limb-girdle muscle atrophy
1716	DGUOK	HP:0002460	Distal muscle weakness
1716	DGUOK	HP:0008615	Adult onset sensorineural hearing impairment
1716	DGUOK	HP:0003749	Pelvic girdle muscle weakness
1716	DGUOK	HP:0003701	Proximal muscle weakness
1716	DGUOK	HP:0001298	Encephalopathy
1716	DGUOK	HP:0001271	Polyneuropathy
1716	DGUOK	HP:0001250	Seizure
1716	DGUOK	HP:0001252	Hypotonia
1716	DGUOK	HP:0001251	Ataxia
1716	DGUOK	HP:0001265	Hyporeflexia
1716	DGUOK	HP:0007340	Lower limb muscle weakness
1716	DGUOK	HP:0001397	Hepatic steatosis
1716	DGUOK	HP:0001399	Hepatic failure
1716	DGUOK	HP:0001347	Hyperreflexia
1716	DGUOK	HP:0008872	Feeding difficulties in infancy
1716	DGUOK	HP:0000007	Autosomal recessive inheritance
1716	DGUOK	HP:0001488	Bilateral ptosis
1716	DGUOK	HP:0006254	Elevated circulating alpha-fetoprotein concentration
1716	DGUOK	HP:0025406	Asthenia
1716	DGUOK	HP:0001409	Portal hypertension
1716	DGUOK	HP:0001405	Periportal fibrosis
1716	DGUOK	HP:0001404	Hepatocellular necrosis
1716	DGUOK	HP:0001413	Micronodular cirrhosis
1716	DGUOK	HP:0003325	Limb-girdle muscle weakness
1716	DGUOK	HP:0003326	Myalgia
1716	DGUOK	HP:0002015	Dysphagia
1716	DGUOK	HP:0002013	Vomiting
1716	DGUOK	HP:0100543	Cognitive impairment
1716	DGUOK	HP:0003394	Muscle spasm
1716	DGUOK	HP:0003390	Sensory axonal neuropathy
1716	DGUOK	HP:0002045	Hypothermia
1716	DGUOK	HP:0002040	Esophageal varix
1716	DGUOK	HP:0002059	Cerebral atrophy
1716	DGUOK	HP:0003477	Peripheral axonal neuropathy
1716	DGUOK	HP:0002151	Increased serum lactate
1716	DGUOK	HP:0002120	Cerebral cortical atrophy
1716	DGUOK	HP:0011924	Decreased activity of mitochondrial complex III
1716	DGUOK	HP:0011923	Decreased activity of mitochondrial complex I
1716	DGUOK	HP:0003596	Middle age onset
1716	DGUOK	HP:0003593	Infantile onset
1716	DGUOK	HP:0002240	Hepatomegaly
1716	DGUOK	HP:0003584	Late onset
1716	DGUOK	HP:0003558	Viral infection-induced rhabdomyolysis
1716	DGUOK	HP:0008347	Decreased activity of mitochondrial complex IV
1716	DGUOK	HP:0003688	Cytochrome C oxidase-negative muscle fibers
1716	DGUOK	HP:0003689	Multiple mitochondrial DNA deletions
1716	DGUOK	HP:0003623	Neonatal onset
1716	DGUOK	HP:0000639	Nystagmus
1716	DGUOK	HP:0000648	Optic atrophy
1716	DGUOK	HP:0001943	Hypoglycemia
1716	DGUOK	HP:0003073	Hypoalbuminemia
1716	DGUOK	HP:0000716	Depression
1716	DGUOK	HP:0000726	Dementia
1716	DGUOK	HP:0011462	Young adult onset
1716	DGUOK	HP:0003128	Lactic acidosis
1716	DGUOK	HP:0003236	Elevated circulating creatine kinase concentration
1716	DGUOK	HP:0003202	Skeletal muscle atrophy
1716	DGUOK	HP:0003200	Ragged-red muscle fibers
1716	DGUOK	HP:0003201	Rhabdomyolysis
1716	DGUOK	HP:0000952	Jaundice
1716	DGUOK	HP:0000252	Microcephaly
1716	DGUOK	HP:0001541	Ascites
1716	DGUOK	HP:0001508	Failure to thrive
1716	DGUOK	HP:0001510	Growth delay
1716	DGUOK	HP:0006581	Depletion of mitochondrial DNA in liver
1716	DGUOK	HP:0001618	Dysphonia
1716	DGUOK	HP:0002910	Elevated hepatic transaminase
1716	DGUOK	HP:0002909	Generalized aminoaciduria
1716	DGUOK	HP:0002904	Hyperbilirubinemia
1716	DGUOK	HP:0000407	Sensorineural hearing impairment
1716	DGUOK	HP:0000486	Strabismus
1716	DGUOK	HP:0001744	Splenomegaly
1716	DGUOK	HP:0000518	Cataract
1716	DGUOK	HP:0000508	Ptosis
1716	DGUOK	HP:0000590	Progressive external ophthalmoplegia
1716	DGUOK	HP:0000549	Abnormal conjugate eye movement
1716	DGUOK	HP:0001873	Thrombocytopenia
1717	DHCR7	HP:0001171	Split hand
1717	DHCR7	HP:0001156	Brachydactyly
1717	DHCR7	HP:0001153	Septate vagina
1717	DHCR7	HP:0001162	Postaxial hand polydactyly
1717	DHCR7	HP:0010880	Increased nuchal translucency
1717	DHCR7	HP:0001290	Generalized hypotonia
1717	DHCR7	HP:0001276	Hypertonia
1717	DHCR7	HP:0001272	Cerebellar atrophy
1717	DHCR7	HP:0001250	Seizure
1717	DHCR7	HP:0001252	Hypotonia
1717	DHCR7	HP:0002579	Gastrointestinal dysmotility
1717	DHCR7	HP:0001249	Intellectual disability
1717	DHCR7	HP:0001263	Global developmental delay
1717	DHCR7	HP:0001262	Excessive daytime somnolence
1717	DHCR7	HP:0002566	Intestinal malrotation
1717	DHCR7	HP:0006101	Finger syndactyly
1717	DHCR7	HP:0008736	Hypoplasia of penis
1717	DHCR7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
1717	DHCR7	HP:0007360	Aplasia/Hypoplasia of the cerebellum
1717	DHCR7	HP:0008678	Renal hypoplasia/aplasia
1717	DHCR7	HP:0007333	Hypoplasia of the frontal lobes
1717	DHCR7	HP:0008665	Clitoral hypertrophy
1717	DHCR7	HP:0002506	Diffuse cerebral atrophy
1717	DHCR7	HP:0000089	Renal hypoplasia
1717	DHCR7	HP:0000081	Duplicated collecting system
1717	DHCR7	HP:0001397	Hepatic steatosis
1717	DHCR7	HP:0000062	Ambiguous genitalia
1717	DHCR7	HP:0001394	Cirrhosis
1717	DHCR7	HP:0000074	Ureteropelvic junction obstruction
1717	DHCR7	HP:0000046	Small scrotum
1717	DHCR7	HP:0000054	Micropenis
1717	DHCR7	HP:0000048	Bifid scrotum
1717	DHCR7	HP:0000047	Hypospadias
1717	DHCR7	HP:0001360	Holoprosencephaly
1717	DHCR7	HP:0000028	Cryptorchidism
1717	DHCR7	HP:0008872	Feeding difficulties in infancy
1717	DHCR7	HP:0007537	Severe photosensitivity
1717	DHCR7	HP:0007477	Abnormal dermatoglyphics
1717	DHCR7	HP:0001338	Partial agenesis of the corpus callosum
1717	DHCR7	HP:0000007	Autosomal recessive inheritance
1717	DHCR7	HP:0000003	Multicystic kidney dysplasia
1717	DHCR7	HP:0001305	Dandy-Walker malformation
1717	DHCR7	HP:0002650	Scoliosis
1717	DHCR7	HP:0002611	Cholestatic liver disease
1717	DHCR7	HP:0000187	Broad alveolar ridges
1717	DHCR7	HP:0008905	Rhizomelia
1717	DHCR7	HP:0000193	Bifid uvula
1717	DHCR7	HP:0000175	Cleft palate
1717	DHCR7	HP:0000171	Microglossia
1717	DHCR7	HP:0000154	Wide mouth
1717	DHCR7	HP:0006288	Advanced eruption of teeth
1717	DHCR7	HP:0000122	Unilateral renal agenesis
1717	DHCR7	HP:0002777	Tracheal stenosis
1717	DHCR7	HP:0000126	Hydronephrosis
1717	DHCR7	HP:0000107	Renal cyst
1717	DHCR7	HP:0000104	Renal agenesis
1717	DHCR7	HP:0002719	Recurrent infections
1717	DHCR7	HP:0002021	Pyloric stenosis
1717	DHCR7	HP:0002020	Gastroesophageal reflux
1717	DHCR7	HP:0002019	Constipation
1717	DHCR7	HP:0002033	Poor suck
1717	DHCR7	HP:0004691	2-3 toe syndactyly
1717	DHCR7	HP:0002013	Vomiting
1717	DHCR7	HP:0003312	Abnormal form of the vertebral bodies
1717	DHCR7	HP:0100542	Abnormal localization of kidney
1717	DHCR7	HP:0002089	Pulmonary hypoplasia
1717	DHCR7	HP:0002079	Hypoplasia of the corpus callosum
1717	DHCR7	HP:0009465	Ulnar deviation of finger
1717	DHCR7	HP:0005916	Abnormal metacarpal morphology
1717	DHCR7	HP:0002119	Ventriculomegaly
1717	DHCR7	HP:0002101	Abnormal lung lobation
1717	DHCR7	HP:0009623	Proximal placement of thumb
1717	DHCR7	HP:0010569	Elevated 7-dehydrocholesterol
1717	DHCR7	HP:0003577	Congenital onset
1717	DHCR7	HP:0002240	Hepatomegaly
1717	DHCR7	HP:0100702	Arachnoid cyst
1717	DHCR7	HP:0002251	Aganglionic megacolon
1717	DHCR7	HP:0100716	Self-injurious behavior
1717	DHCR7	HP:0002283	Global brain atrophy
1717	DHCR7	HP:0010655	Epiphyseal stippling
1717	DHCR7	HP:0007018	Attention deficit hyperactivity disorder
1717	DHCR7	HP:0011968	Feeding difficulties
1717	DHCR7	HP:0007099	Chiari type I malformation
1717	DHCR7	HP:0002360	Sleep disturbance
1717	DHCR7	HP:0009804	Tooth agenesis
1717	DHCR7	HP:0007165	Periventricular heterotopia
1717	DHCR7	HP:0009778	Short thumb
1717	DHCR7	HP:0005599	Hypopigmentation of hair
1717	DHCR7	HP:0000639	Nystagmus
1717	DHCR7	HP:0000648	Optic atrophy
1717	DHCR7	HP:0000647	Sclerocornea
1717	DHCR7	HP:0000612	Iris coloboma
1717	DHCR7	HP:0000682	Abnormal dental enamel morphology
1717	DHCR7	HP:0000678	Dental crowding
1717	DHCR7	HP:0004322	Short stature
1717	DHCR7	HP:0006979	Sleep-wake cycle disturbance
1717	DHCR7	HP:0030680	Abnormality of cardiovascular system morphology
1717	DHCR7	HP:0003073	Hypoalbuminemia
1717	DHCR7	HP:0000808	Penoscrotal hypospadias
1717	DHCR7	HP:0003027	Mesomelia
1717	DHCR7	HP:0000752	Hyperactivity
1717	DHCR7	HP:0000772	Abnormal rib morphology
1717	DHCR7	HP:0000742	Self-mutilation
1717	DHCR7	HP:0000718	Aggressive behavior
1717	DHCR7	HP:0000717	Autism
1717	DHCR7	HP:0000776	Congenital diaphragmatic hernia
1717	DHCR7	HP:0004422	Biparietal narrowing
1717	DHCR7	HP:0005709	2-3 toe cutaneous syndactyly
1717	DHCR7	HP:0003146	Hypocholesterolemia
1717	DHCR7	HP:0000813	Bicornuate uterus
1717	DHCR7	HP:0000826	Precocious puberty
1717	DHCR7	HP:0000822	Hypertension
1717	DHCR7	HP:0010297	Bifid tongue
1717	DHCR7	HP:0003270	Abdominal distention
1717	DHCR7	HP:0000996	Facial capillary hemangioma
1717	DHCR7	HP:0000992	Cutaneous photosensitivity
1717	DHCR7	HP:0000965	Cutis marmorata
1717	DHCR7	HP:0000964	Eczema
1717	DHCR7	HP:0000960	Sacral dimple
1717	DHCR7	HP:0008056	Aplasia/Hypoplasia affecting the eye
1717	DHCR7	HP:0000286	Epicanthus
1717	DHCR7	HP:0002827	Hip dislocation
1717	DHCR7	HP:0002808	Kyphosis
1717	DHCR7	HP:0000238	Hydrocephalus
1717	DHCR7	HP:0000252	Microcephaly
1717	DHCR7	HP:0001543	Gastroschisis
1717	DHCR7	HP:0000212	Gingival overgrowth
1717	DHCR7	HP:0001561	Polyhydramnios
1717	DHCR7	HP:0001558	Decreased fetal movement
1717	DHCR7	HP:0001522	Death in infancy
1717	DHCR7	HP:0001508	Failure to thrive
1717	DHCR7	HP:0030043	Hip subluxation
1717	DHCR7	HP:0030048	Colpocephaly
1717	DHCR7	HP:0001511	Intrauterine growth retardation
1717	DHCR7	HP:0001510	Growth delay
1717	DHCR7	HP:0006501	Aplasia/Hypoplasia of the radius
1717	DHCR7	HP:0011069	Supernumerary tooth
1717	DHCR7	HP:0005264	Abnormality of the gallbladder
1717	DHCR7	HP:0001600	Abnormality of the larynx
1717	DHCR7	HP:0006482	Abnormality of dental morphology
1717	DHCR7	HP:0000365	Hearing impairment
1717	DHCR7	HP:0000358	Posteriorly rotated ears
1717	DHCR7	HP:0000369	Low-set ears
1717	DHCR7	HP:0000368	Low-set, posteriorly rotated ears
1717	DHCR7	HP:0000341	Narrow forehead
1717	DHCR7	HP:0000343	Long philtrum
1717	DHCR7	HP:0001680	Coarctation of aorta
1717	DHCR7	HP:0000347	Micrognathia
1717	DHCR7	HP:0002983	Micromelia
1717	DHCR7	HP:0000316	Hypertelorism
1717	DHCR7	HP:0001643	Patent ductus arteriosus
1717	DHCR7	HP:0001663	Ventricular fibrillation
1717	DHCR7	HP:0001629	Ventricular septal defect
1717	DHCR7	HP:0001623	Breech presentation
1717	DHCR7	HP:0001622	Premature birth
1717	DHCR7	HP:0000308	Microretrognathia
1717	DHCR7	HP:0001639	Hypertrophic cardiomyopathy
1717	DHCR7	HP:0001631	Atrial septal defect
1717	DHCR7	HP:0006610	Wide intermamillary distance
1717	DHCR7	HP:0000499	Abnormal eyelash morphology
1717	DHCR7	HP:0006695	Atrioventricular canal defect
1717	DHCR7	HP:0000407	Sensorineural hearing impairment
1717	DHCR7	HP:0000403	Recurrent otitis media
1717	DHCR7	HP:0005280	Depressed nasal bridge
1717	DHCR7	HP:0000486	Strabismus
1717	DHCR7	HP:0000494	Downslanted palpebral fissures
1717	DHCR7	HP:0000463	Anteverted nares
1717	DHCR7	HP:0000470	Short neck
1717	DHCR7	HP:0001765	Hammertoe
1717	DHCR7	HP:0000453	Choanal atresia
1717	DHCR7	HP:0001744	Splenomegaly
1717	DHCR7	HP:0000431	Wide nasal bridge
1717	DHCR7	HP:0000518	Cataract
1717	DHCR7	HP:0001845	Overlapping toe
1717	DHCR7	HP:0001840	Metatarsus adductus
1717	DHCR7	HP:0000520	Proptosis
1717	DHCR7	HP:0000508	Ptosis
1717	DHCR7	HP:0001830	Postaxial foot polydactyly
1717	DHCR7	HP:0000501	Glaucoma
1717	DHCR7	HP:0001831	Short toe
1717	DHCR7	HP:0000582	Upslanted palpebral fissure
1717	DHCR7	HP:0001884	Talipes calcaneovalgus
1718	DHCR24	HP:0007227	Macrogyria
1718	DHCR24	HP:0001276	Hypertonia
1718	DHCR24	HP:0001274	Agenesis of corpus callosum
1718	DHCR24	HP:0001250	Seizure
1718	DHCR24	HP:0001249	Intellectual disability
1718	DHCR24	HP:0001263	Global developmental delay
1718	DHCR24	HP:0001257	Spasticity
1718	DHCR24	HP:0002566	Intestinal malrotation
1718	DHCR24	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
1718	DHCR24	HP:0008678	Renal hypoplasia/aplasia
1718	DHCR24	HP:0002536	Abnormal cortical gyration
1718	DHCR24	HP:0000062	Ambiguous genitalia
1718	DHCR24	HP:0000061	Ambiguous genitalia, female
1718	DHCR24	HP:0000033	Ambiguous genitalia, male
1718	DHCR24	HP:0001331	Absent septum pellucidum
1718	DHCR24	HP:0001339	Lissencephaly
1718	DHCR24	HP:0001338	Partial agenesis of the corpus callosum
1718	DHCR24	HP:0000007	Autosomal recessive inheritance
1718	DHCR24	HP:0001302	Pachygyria
1718	DHCR24	HP:0008905	Rhizomelia
1718	DHCR24	HP:0000193	Bifid uvula
1718	DHCR24	HP:0000160	Narrow mouth
1718	DHCR24	HP:0000176	Submucous cleft hard palate
1718	DHCR24	HP:0000175	Cleft palate
1718	DHCR24	HP:0000169	Gingival fibromatosis
1718	DHCR24	HP:0000104	Renal agenesis
1718	DHCR24	HP:0002007	Frontal bossing
1718	DHCR24	HP:0002063	Rigidity
1718	DHCR24	HP:0009473	Joint contracture of the hand
1718	DHCR24	HP:0002119	Ventriculomegaly
1718	DHCR24	HP:0002133	Status epilepticus
1718	DHCR24	HP:0002126	Polymicrogyria
1718	DHCR24	HP:0002269	Abnormality of neuronal migration
1718	DHCR24	HP:0003552	Muscle stiffness
1718	DHCR24	HP:0009748	Large earlobe
1718	DHCR24	HP:0011968	Feeding difficulties
1718	DHCR24	HP:0003510	Severe short stature
1718	DHCR24	HP:0010772	Anomalous pulmonary venous return
1718	DHCR24	HP:0009085	Alveolar ridge overgrowth
1718	DHCR24	HP:0000639	Nystagmus
1718	DHCR24	HP:0004334	Dermal atrophy
1718	DHCR24	HP:0003107	Abnormal circulating cholesterol concentration
1718	DHCR24	HP:0003196	Short nose
1718	DHCR24	HP:0004482	Relative macrocephaly
1718	DHCR24	HP:0005789	Generalized osteosclerosis
1718	DHCR24	HP:0008065	Aplasia/Hypoplasia of the skin
1718	DHCR24	HP:0000286	Epicanthus
1718	DHCR24	HP:0000278	Retrognathia
1718	DHCR24	HP:0000256	Macrocephaly
1718	DHCR24	HP:0002804	Arthrogryposis multiplex congenita
1718	DHCR24	HP:0000238	Hydrocephalus
1718	DHCR24	HP:0000252	Microcephaly
1718	DHCR24	HP:0001508	Failure to thrive
1718	DHCR24	HP:0001511	Intrauterine growth retardation
1718	DHCR24	HP:0001510	Growth delay
1718	DHCR24	HP:0000378	Cupped ear
1718	DHCR24	HP:0005160	Total anomalous pulmonary venous return
1718	DHCR24	HP:0000363	Abnormal earlobe morphology
1718	DHCR24	HP:0000358	Posteriorly rotated ears
1718	DHCR24	HP:0000366	Abnormality of the nose
1718	DHCR24	HP:0000369	Low-set ears
1718	DHCR24	HP:0000368	Low-set, posteriorly rotated ears
1718	DHCR24	HP:0011002	Osteopetrosis
1718	DHCR24	HP:0011001	Increased bone mineral density
1718	DHCR24	HP:0000347	Micrognathia
1718	DHCR24	HP:0002983	Micromelia
1718	DHCR24	HP:0001643	Patent ductus arteriosus
1718	DHCR24	HP:0005281	Hypoplastic nasal bridge
1718	DHCR24	HP:0005280	Depressed nasal bridge
1718	DHCR24	HP:0000486	Strabismus
1718	DHCR24	HP:0000494	Downslanted palpebral fissures
1718	DHCR24	HP:0000463	Anteverted nares
1718	DHCR24	HP:0001776	Bilateral talipes equinovarus
1718	DHCR24	HP:0001744	Splenomegaly
1718	DHCR24	HP:0001840	Metatarsus adductus
1718	DHCR24	HP:0011220	Prominent forehead
1718	DHCR24	HP:0001883	Talipes
1719	DHFR	HP:0002421	Poor head control
1719	DHFR	HP:0001290	Generalized hypotonia
1719	DHFR	HP:0001252	Hypotonia
1719	DHFR	HP:0001251	Ataxia
1719	DHFR	HP:0001263	Global developmental delay
1719	DHFR	HP:0000007	Autosomal recessive inheritance
1719	DHFR	HP:0001321	Cerebellar hypoplasia
1719	DHFR	HP:0025435	Increased circulating lactate dehydrogenase concentration
1719	DHFR	HP:0002059	Cerebral atrophy
1719	DHFR	HP:0002121	Generalized non-motor (absence) seizure
1719	DHFR	HP:0002240	Hepatomegaly
1719	DHFR	HP:0011968	Feeding difficulties
1719	DHFR	HP:0025097	Eyelid myoclonus
1719	DHFR	HP:0003621	Juvenile onset
1719	DHFR	HP:0005518	Increased mean corpuscular volume
1719	DHFR	HP:0040087	Abnormal blood folate concentration
1719	DHFR	HP:0000980	Pallor
1719	DHFR	HP:0000952	Jaundice
1719	DHFR	HP:0011149	Absence seizure with eyelid myoclonia
1719	DHFR	HP:0012448	Delayed myelination
1719	DHFR	HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration
1719	DHFR	HP:0005484	Secondary microcephaly
1719	DHFR	HP:0001889	Megaloblastic anemia
1719	DHFR	HP:0001873	Thrombocytopenia
1719	DHFR	HP:0001876	Pancytopenia
1723	DHODH	HP:0001159	Syndactyly
1723	DHODH	HP:0008551	Microtia
1723	DHODH	HP:0002558	Supernumerary nipple
1723	DHODH	HP:0006101	Finger syndactyly
1723	DHODH	HP:0000077	Abnormality of the kidney
1723	DHODH	HP:0001374	Congenital hip dislocation
1723	DHODH	HP:0000054	Micropenis
1723	DHODH	HP:0000028	Cryptorchidism
1723	DHODH	HP:0008897	Postnatal growth retardation
1723	DHODH	HP:0007477	Abnormal dermatoglyphics
1723	DHODH	HP:0000007	Autosomal recessive inheritance
1723	DHODH	HP:0000175	Cleft palate
1723	DHODH	HP:0007651	Ectropion of lower eyelids
1723	DHODH	HP:0002021	Pyloric stenosis
1723	DHODH	HP:0100490	Camptodactyly of finger
1723	DHODH	HP:0009778	Short thumb
1723	DHODH	HP:0000625	Eyelid coloboma
1723	DHODH	HP:0000698	Conical tooth
1723	DHODH	HP:0000656	Ectropion
1723	DHODH	HP:0030680	Abnormality of cardiovascular system morphology
1723	DHODH	HP:0003022	Hypoplasia of the ulna
1723	DHODH	HP:0000767	Pectus excavatum
1723	DHODH	HP:0100335	Non-midline cleft lip
1723	DHODH	HP:0000272	Malar flattening
1723	DHODH	HP:0000204	Cleft upper lip
1723	DHODH	HP:0001510	Growth delay
1723	DHODH	HP:0000378	Cupped ear
1723	DHODH	HP:0005211	Midgut malrotation
1723	DHODH	HP:0002946	Supernumerary vertebrae
1723	DHODH	HP:0000370	Abnormality of the middle ear
1723	DHODH	HP:0000369	Low-set ears
1723	DHODH	HP:0000368	Low-set, posteriorly rotated ears
1723	DHODH	HP:0000347	Micrognathia
1723	DHODH	HP:0002974	Radioulnar synostosis
1723	DHODH	HP:0002984	Hypoplasia of the radius
1723	DHODH	HP:0000405	Conductive hearing impairment
1723	DHODH	HP:0000486	Strabismus
1723	DHODH	HP:0000494	Downslanted palpebral fissures
1723	DHODH	HP:0000453	Choanal atresia
1723	DHODH	HP:0001760	Abnormal foot morphology
1725	DHPS	HP:0010880	Increased nuchal translucency
1725	DHPS	HP:0001250	Seizure
1725	DHPS	HP:0001252	Hypotonia
1725	DHPS	HP:0001263	Global developmental delay
1725	DHPS	HP:0001257	Spasticity
1725	DHPS	HP:0410263	Brain imaging abnormality
1725	DHPS	HP:0100876	Infra-orbital crease
1725	DHPS	HP:0002509	Limb hypertonia
1725	DHPS	HP:0000007	Autosomal recessive inheritance
1725	DHPS	HP:0008936	Axial hypotonia
1725	DHPS	HP:0002019	Constipation
1725	DHPS	HP:0011856	Pica
1725	DHPS	HP:0003593	Infantile onset
1725	DHPS	HP:0002353	EEG abnormality
1725	DHPS	HP:0002317	Unsteady gait
1725	DHPS	HP:0100602	Preeclampsia
1725	DHPS	HP:0004209	Clinodactyly of the 5th finger
1725	DHPS	HP:0004322	Short stature
1725	DHPS	HP:0031936	Delayed ability to walk
1725	DHPS	HP:0100023	Recurrent hand flapping
1725	DHPS	HP:0000750	Delayed speech and language development
1725	DHPS	HP:0034210	Fetal intraventricular hemorrhage
1725	DHPS	HP:0000960	Sacral dimple
1725	DHPS	HP:0000219	Thin upper lip vermilion
1725	DHPS	HP:0000218	High palate
1725	DHPS	HP:0001562	Oligohydramnios
1725	DHPS	HP:0000369	Low-set ears
1725	DHPS	HP:0000319	Smooth philtrum
1725	DHPS	HP:0001622	Premature birth
1725	DHPS	HP:0000490	Deeply set eye
1725	DHPS	HP:0000426	Prominent nasal bridge
1727	CYB5R3	HP:0025118	Lip discoloration
1727	CYB5R3	HP:0002451	Limb dystonia
1727	CYB5R3	HP:0010864	Intellectual disability, severe
1727	CYB5R3	HP:0001276	Hypertonia
1727	CYB5R3	HP:0001272	Cerebellar atrophy
1727	CYB5R3	HP:0001250	Seizure
1727	CYB5R3	HP:0001249	Intellectual disability
1727	CYB5R3	HP:0001263	Global developmental delay
1727	CYB5R3	HP:0001257	Spasticity
1727	CYB5R3	HP:0002510	Spastic tetraplegia
1727	CYB5R3	HP:0000007	Autosomal recessive inheritance
1727	CYB5R3	HP:0012119	Methemoglobinemia
1727	CYB5R3	HP:0002179	Opisthotonus
1727	CYB5R3	HP:0002283	Global brain atrophy
1727	CYB5R3	HP:0002315	Headache
1727	CYB5R3	HP:0007112	Temporal cortical atrophy
1727	CYB5R3	HP:0002305	Athetosis
1727	CYB5R3	HP:0006808	Cerebral hypomyelination
1727	CYB5R3	HP:0001901	Polycythemia
1727	CYB5R3	HP:0012697	Small basal ganglia
1727	CYB5R3	HP:0011344	Severe global developmental delay
1727	CYB5R3	HP:0006913	Frontal cortical atrophy
1727	CYB5R3	HP:0000707	Abnormality of the nervous system
1727	CYB5R3	HP:0000961	Cyanosis
1727	CYB5R3	HP:0001597	Abnormality of the nail
1727	CYB5R3	HP:0000252	Microcephaly
1727	CYB5R3	HP:0002875	Exertional dyspnea
1727	CYB5R3	HP:0001518	Small for gestational age
1727	CYB5R3	HP:0001510	Growth delay
1727	CYB5R3	HP:0000486	Strabismus
1727	CYB5R3	HP:0012448	Delayed myelination
1727	CYB5R3	HP:0000592	Blue sclerae
1727	CYB5R3	HP:0000565	Esotropia
1729	DIAPH1	HP:0002465	Poor speech
1729	DIAPH1	HP:0001290	Generalized hypotonia
1729	DIAPH1	HP:0001250	Seizure
1729	DIAPH1	HP:0001252	Hypotonia
1729	DIAPH1	HP:0001249	Intellectual disability
1729	DIAPH1	HP:0000007	Autosomal recessive inheritance
1729	DIAPH1	HP:0000006	Autosomal dominant inheritance
1729	DIAPH1	HP:0000132	Menorrhagia
1729	DIAPH1	HP:0002079	Hypoplasia of the corpus callosum
1729	DIAPH1	HP:0002119	Ventriculomegaly
1729	DIAPH1	HP:0011891	Post-partum hemorrhage
1729	DIAPH1	HP:0100704	Cerebral visual impairment
1729	DIAPH1	HP:0003540	Impaired platelet aggregation
1729	DIAPH1	HP:0001009	Telangiectasia
1729	DIAPH1	HP:0100659	Abnormal cerebral vascular morphology
1729	DIAPH1	HP:0003621	Juvenile onset
1729	DIAPH1	HP:0000648	Optic atrophy
1729	DIAPH1	HP:0004322	Short stature
1729	DIAPH1	HP:0011463	Childhood onset
1729	DIAPH1	HP:0040185	Macrothrombocytopenia
1729	DIAPH1	HP:0000252	Microcephaly
1729	DIAPH1	HP:0001510	Growth delay
1729	DIAPH1	HP:0000407	Sensorineural hearing impairment
1729	DIAPH1	HP:0001873	Thrombocytopenia
1730	DIAPH2	HP:0001423	X-linked dominant inheritance
1730	DIAPH2	HP:0008232	Elevated circulating follicle stimulating hormone level
1730	DIAPH2	HP:0008209	Premature ovarian insufficiency
1730	DIAPH2	HP:0011969	Elevated circulating luteinizing hormone level
1730	DIAPH2	HP:0011462	Young adult onset
1730	DIAPH2	HP:0000869	Secondary amenorrhea
1733	DIO1	HP:0000006	Autosomal dominant inheritance
1733	DIO1	HP:0003124	Hypercholesterolemia
1733	DIO1	HP:0034289	Elevated circulating rT3/T3 ratio
1733	DIO1	HP:0034288	Elevated circulating reverse T3 concentration
1736	DKC1	HP:0009926	Epiphora
1736	DKC1	HP:0010885	Avascular necrosis
1736	DKC1	HP:0001276	Hypertonia
1736	DKC1	HP:0001251	Ataxia
1736	DKC1	HP:0001249	Intellectual disability
1736	DKC1	HP:0001265	Hyporeflexia
1736	DKC1	HP:0001263	Global developmental delay
1736	DKC1	HP:0001231	Abnormal fingernail morphology
1736	DKC1	HP:0002575	Tracheoesophageal fistula
1736	DKC1	HP:0007440	Generalized hyperpigmentation
1736	DKC1	HP:0007427	Reticulated skin pigmentation
1736	DKC1	HP:0008734	Decreased testicular size
1736	DKC1	HP:0007392	Excessive wrinkled skin
1736	DKC1	HP:0008661	Urethral stenosis
1736	DKC1	HP:0002514	Cerebral calcification
1736	DKC1	HP:0000085	Horseshoe kidney
1736	DKC1	HP:0001399	Hepatic failure
1736	DKC1	HP:0001394	Cirrhosis
1736	DKC1	HP:0000047	Hypospadias
1736	DKC1	HP:0000035	Abnormal testis morphology
1736	DKC1	HP:0000028	Cryptorchidism
1736	DKC1	HP:0002664	Neoplasm
1736	DKC1	HP:0000008	Abnormal morphology of female internal genitalia
1736	DKC1	HP:0002665	Lymphoma
1736	DKC1	HP:0002650	Scoliosis
1736	DKC1	HP:0001321	Cerebellar hypoplasia
1736	DKC1	HP:0012189	Hodgkin lymphoma
1736	DKC1	HP:0012182	Oropharyngeal squamous cell carcinoma
1736	DKC1	HP:0000164	Abnormality of the dentition
1736	DKC1	HP:0002757	Recurrent fractures
1736	DKC1	HP:0001419	X-linked recessive inheritance
1736	DKC1	HP:0002745	Oral leukoplakia
1736	DKC1	HP:0002721	Immunodeficiency
1736	DKC1	HP:0002024	Malabsorption
1736	DKC1	HP:0002091	Restrictive ventilatory defect
1736	DKC1	HP:0002043	Esophageal stricture
1736	DKC1	HP:0010450	Esophageal stenosis
1736	DKC1	HP:0100585	Telangiectasia of the skin
1736	DKC1	HP:0002120	Cerebral cortical atrophy
1736	DKC1	HP:0002119	Ventriculomegaly
1736	DKC1	HP:0002165	Pterygium of nails
1736	DKC1	HP:0002240	Hepatomegaly
1736	DKC1	HP:0002216	Premature graying of hair
1736	DKC1	HP:0002209	Sparse scalp hair
1736	DKC1	HP:0002205	Recurrent respiratory infections
1736	DKC1	HP:0002206	Pulmonary fibrosis
1736	DKC1	HP:0008404	Nail dystrophy
1736	DKC1	HP:0010624	Aplastic/hypoplastic toenail
1736	DKC1	HP:0004808	Acute myeloid leukemia
1736	DKC1	HP:0001053	Hypopigmented skin patches
1736	DKC1	HP:0001059	Pterygium
1736	DKC1	HP:0001034	Hypermelanotic macule
1736	DKC1	HP:0200037	Skin vesicle
1736	DKC1	HP:0100670	Coarse metaphyseal trabecularization
1736	DKC1	HP:0100627	Displacement of the urethral meatus
1736	DKC1	HP:0200042	Skin ulcer
1736	DKC1	HP:0003621	Juvenile onset
1736	DKC1	HP:0005528	Bone marrow hypocellularity
1736	DKC1	HP:0000648	Optic atrophy
1736	DKC1	HP:0001928	Abnormality of coagulation
1736	DKC1	HP:0000600	Abnormality of the pharynx
1736	DKC1	HP:0001903	Anemia
1736	DKC1	HP:0011358	Generalized hypopigmentation of hair
1736	DKC1	HP:0011364	White hair
1736	DKC1	HP:0000679	Taurodontia
1736	DKC1	HP:0000653	Sparse eyelashes
1736	DKC1	HP:0000670	Carious teeth
1736	DKC1	HP:0000668	Hypodontia
1736	DKC1	HP:0004322	Short stature
1736	DKC1	HP:0004334	Dermal atrophy
1736	DKC1	HP:0012732	Anorectal anomaly
1736	DKC1	HP:0012733	Macule
1736	DKC1	HP:0000704	Periodontitis
1736	DKC1	HP:0030731	Carcinoma
1736	DKC1	HP:0000819	Diabetes mellitus
1736	DKC1	HP:0000975	Hyperhidrosis
1736	DKC1	HP:0000982	Palmoplantar keratoderma
1736	DKC1	HP:0000953	Hyperpigmentation of the skin
1736	DKC1	HP:0000939	Osteoporosis
1736	DKC1	HP:0008070	Sparse hair
1736	DKC1	HP:0008065	Aplasia/Hypoplasia of the skin
1736	DKC1	HP:0008066	Abnormal blistering of the skin
1736	DKC1	HP:0001596	Alopecia
1736	DKC1	HP:0000252	Microcephaly
1736	DKC1	HP:0002894	Neoplasm of the pancreas
1736	DKC1	HP:0002860	Squamous cell carcinoma
1736	DKC1	HP:0002863	Myelodysplasia
1736	DKC1	HP:0001508	Failure to thrive
1736	DKC1	HP:0001511	Intrauterine growth retardation
1736	DKC1	HP:0005212	Anal mucosal leukoplakia
1736	DKC1	HP:0006480	Premature loss of teeth
1736	DKC1	HP:0000365	Hearing impairment
1736	DKC1	HP:0000327	Hypoplasia of the maxilla
1736	DKC1	HP:0000499	Abnormal eyelash morphology
1736	DKC1	HP:0000498	Blepharitis
1736	DKC1	HP:0005374	Cellular immunodeficiency
1736	DKC1	HP:0000486	Strabismus
1736	DKC1	HP:0001741	Phimosis
1736	DKC1	HP:0001744	Splenomegaly
1736	DKC1	HP:0000518	Cataract
1736	DKC1	HP:0000509	Conjunctivitis
1736	DKC1	HP:0001809	Split nail
1736	DKC1	HP:0001807	Ridged nail
1736	DKC1	HP:0000534	Abnormal eyebrow morphology
1736	DKC1	HP:0001881	Abnormal leukocyte morphology
1736	DKC1	HP:0001882	Leukopenia
1736	DKC1	HP:0001874	Abnormality of neutrophils
1736	DKC1	HP:0001873	Thrombocytopenia
1736	DKC1	HP:0001876	Pancytopenia
1737	DLAT	HP:0002465	Poor speech
1737	DLAT	HP:0002454	Eye of the tiger anomaly of globus pallidus
1737	DLAT	HP:0007325	Generalized dystonia
1737	DLAT	HP:0010864	Intellectual disability, severe
1737	DLAT	HP:0001276	Hypertonia
1737	DLAT	HP:0001270	Motor delay
1737	DLAT	HP:0001288	Gait disturbance
1737	DLAT	HP:0001256	Intellectual disability, mild
1737	DLAT	HP:0001252	Hypotonia
1737	DLAT	HP:0001251	Ataxia
1737	DLAT	HP:0001266	Choreoathetosis
1737	DLAT	HP:0001260	Dysarthria
1737	DLAT	HP:0001263	Global developmental delay
1737	DLAT	HP:0500231	Abnormal CSF pyruvate family amino acid concentration
1737	DLAT	HP:0012043	Pendular nystagmus
1737	DLAT	HP:0025331	Upgaze palsy
1737	DLAT	HP:0025335	Delayed ability to stand
1737	DLAT	HP:0001348	Brisk reflexes
1737	DLAT	HP:0001347	Hyperreflexia
1737	DLAT	HP:0001332	Dystonia
1737	DLAT	HP:0000007	Autosomal recessive inheritance
1737	DLAT	HP:0001319	Neonatal hypotonia
1737	DLAT	HP:0031139	Frog-leg posture
1737	DLAT	HP:0100503	Low levels of vitamin B1
1737	DLAT	HP:0003487	Babinski sign
1737	DLAT	HP:0002136	Broad-based gait
1737	DLAT	HP:0002180	Neurodegeneration
1737	DLAT	HP:0002194	Delayed gross motor development
1737	DLAT	HP:0002268	Paroxysmal dystonia
1737	DLAT	HP:0003593	Infantile onset
1737	DLAT	HP:0011968	Feeding difficulties
1737	DLAT	HP:0020045	Esodeviation
1737	DLAT	HP:0002395	Lower limb hyperreflexia
1737	DLAT	HP:0002355	Difficulty walking
1737	DLAT	HP:0002307	Drooling
1737	DLAT	HP:0000639	Nystagmus
1737	DLAT	HP:0000657	Oculomotor apraxia
1737	DLAT	HP:0005656	Positional foot deformity
1737	DLAT	HP:0004302	Functional motor deficit
1737	DLAT	HP:0031960	Arm dystonia
1737	DLAT	HP:0006961	Jerky head movements
1737	DLAT	HP:0031936	Delayed ability to walk
1737	DLAT	HP:0000739	Anxiety
1737	DLAT	HP:0000726	Dementia
1737	DLAT	HP:0000708	Atypical behavior
1737	DLAT	HP:0000707	Abnormality of the nervous system
1737	DLAT	HP:0003128	Lactic acidosis
1737	DLAT	HP:0000252	Microcephaly
1737	DLAT	HP:0011098	Speech apraxia
1737	DLAT	HP:0012379	Abnormal circulating enzyme concentration or activity
1737	DLAT	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
1737	DLAT	HP:0032988	Persistent head lag
1737	DLAT	HP:0007994	Peripheral visual field loss
1737	DLAT	HP:0000486	Strabismus
1737	DLAT	HP:0000496	Abnormality of eye movement
1737	DLAT	HP:0000508	Ptosis
1737	DLAT	HP:0000546	Retinal degeneration
1738	DLD	HP:0002480	Hepatic encephalopathy
1738	DLD	HP:0010913	Hyperisoleucinemia
1738	DLD	HP:0500191	Increased CSF leucine concentration
1738	DLD	HP:0500193	Increased CSF isoleucine concentration
1738	DLD	HP:0500187	Increased CSF valine concentration
1738	DLD	HP:0001298	Encephalopathy
1738	DLD	HP:0001290	Generalized hypotonia
1738	DLD	HP:0001254	Lethargy
1738	DLD	HP:0001250	Seizure
1738	DLD	HP:0001252	Hypotonia
1738	DLD	HP:0001251	Ataxia
1738	DLD	HP:0001263	Global developmental delay
1738	DLD	HP:0001257	Spasticity
1738	DLD	HP:0003819	Death in childhood
1738	DLD	HP:0001399	Hepatic failure
1738	DLD	HP:0001332	Dystonia
1738	DLD	HP:0000007	Autosomal recessive inheritance
1738	DLD	HP:0007663	Reduced visual acuity
1738	DLD	HP:0001410	Decreased liver function
1738	DLD	HP:0002013	Vomiting
1738	DLD	HP:0003394	Muscle spasm
1738	DLD	HP:0002151	Increased serum lactate
1738	DLD	HP:0003593	Infantile onset
1738	DLD	HP:0002240	Hepatomegaly
1738	DLD	HP:0003542	Increased serum pyruvate
1738	DLD	HP:0100724	Hypercoagulability
1738	DLD	HP:0008344	Elevated plasma branched chain amino acids
1738	DLD	HP:0011968	Feeding difficulties
1738	DLD	HP:0001943	Hypoglycemia
1738	DLD	HP:0001942	Metabolic acidosis
1738	DLD	HP:0001993	Ketoacidosis
1738	DLD	HP:0001987	Hyperammonemia
1738	DLD	HP:0000708	Atypical behavior
1738	DLD	HP:0012758	Neurodevelopmental delay
1738	DLD	HP:0003128	Lactic acidosis
1738	DLD	HP:0003234	Decreased plasma carnitine
1738	DLD	HP:0030872	Abnormal cardiac ventricular function
1738	DLD	HP:0000252	Microcephaly
1738	DLD	HP:0001508	Failure to thrive
1738	DLD	HP:0002910	Elevated hepatic transaminase
1738	DLD	HP:0001639	Hypertrophic cardiomyopathy
1738	DLD	HP:0001638	Cardiomyopathy
1738	DLD	HP:0012402	Increased urine alpha-ketoglutarate concentration
1739	DLG1	HP:0008872	Feeding difficulties in infancy
1739	DLG1	HP:0000175	Cleft palate
1739	DLG1	HP:0006342	Peg-shaped maxillary lateral incisors
1739	DLG1	HP:0006292	Abnormality of dental eruption
1739	DLG1	HP:0002033	Poor suck
1739	DLG1	HP:0200153	Agenesis of lateral incisor
1739	DLG1	HP:0200136	Oral-pharyngeal dysphagia
1739	DLG1	HP:0009088	Speech articulation difficulties
1739	DLG1	HP:0000689	Dental malocclusion
1739	DLG1	HP:0004395	Malnutrition
1739	DLG1	HP:0000750	Delayed speech and language development
1739	DLG1	HP:0100337	Bilateral cleft palate
1739	DLG1	HP:0100334	Unilateral cleft palate
1739	DLG1	HP:0010294	Palate fistula
1739	DLG1	HP:0000220	Velopharyngeal insufficiency
1739	DLG1	HP:0000202	Orofacial cleft
1739	DLG1	HP:0011044	Abnormal number of permanent teeth
1739	DLG1	HP:0001611	Hypernasal speech
1739	DLG1	HP:0000327	Hypoplasia of the maxilla
1739	DLG1	HP:0000403	Recurrent otitis media
1739	DLG1	HP:0000405	Conductive hearing impairment
1741	DLG3	HP:0001270	Motor delay
1741	DLG3	HP:0001250	Seizure
1741	DLG3	HP:0001252	Hypotonia
1741	DLG3	HP:0001249	Intellectual disability
1741	DLG3	HP:0001263	Global developmental delay
1741	DLG3	HP:0000193	Bifid uvula
1741	DLG3	HP:0001419	X-linked recessive inheritance
1741	DLG3	HP:0001417	X-linked inheritance
1741	DLG3	HP:0007018	Attention deficit hyperactivity disorder
1741	DLG3	HP:0000805	Enuresis
1741	DLG3	HP:0000750	Delayed speech and language development
1741	DLG3	HP:0000774	Narrow chest
1741	DLG3	HP:0000272	Malar flattening
1741	DLG3	HP:0000218	High palate
1741	DLG3	HP:0000486	Strabismus
1741	DLG3	HP:0000582	Upslanted palpebral fissure
1742	DLG4	HP:0001166	Arachnodactyly
1742	DLG4	HP:0001250	Seizure
1742	DLG4	HP:0001249	Intellectual disability
1742	DLG4	HP:0001388	Joint laxity
1742	DLG4	HP:0000006	Autosomal dominant inheritance
1742	DLG4	HP:0002650	Scoliosis
1742	DLG4	HP:0003593	Infantile onset
1742	DLG4	HP:0001065	Striae distensae
1742	DLG4	HP:0006855	Cerebellar vermis atrophy
1742	DLG4	HP:0000729	Autistic behavior
1742	DLG4	HP:0012771	Increased arm span
1742	DLG4	HP:0001519	Disproportionate tall stature
1742	DLG4	HP:0000486	Strabismus
1742	DLG4	HP:0001763	Pes planus
1743	DLST	HP:0008629	Pulsatile tinnitus
1743	DLST	HP:0025269	Panic attack
1743	DLST	HP:0001293	Cranial nerve compression
1743	DLST	HP:0002574	Episodic abdominal pain
1743	DLST	HP:0003829	Typified by incomplete penetrance
1743	DLST	HP:0000096	Glomerular sclerosis
1743	DLST	HP:0000093	Proteinuria
1743	DLST	HP:0001342	Cerebral hemorrhage
1743	DLST	HP:0002668	Paraganglioma
1743	DLST	HP:0001337	Tremor
1743	DLST	HP:0000006	Autosomal dominant inheritance
1743	DLST	HP:0002666	Pheochromocytoma
1743	DLST	HP:0002640	Hypertension associated with pheochromocytoma
1743	DLST	HP:0031284	Flushing
1743	DLST	HP:0002018	Nausea
1743	DLST	HP:0003345	Elevated urinary norepinephrine
1743	DLST	HP:0011703	Sinus tachycardia
1743	DLST	HP:0010532	Paroxysmal vertigo
1743	DLST	HP:0003574	Positive regitine blocking test
1743	DLST	HP:0003581	Adult onset
1743	DLST	HP:0003528	Elevated calcitonin
1743	DLST	HP:0009711	Retinal capillary hemangioma
1743	DLST	HP:0100749	Chest pain
1743	DLST	HP:0011979	Elevated urinary dopamine
1743	DLST	HP:0001069	Episodic hyperhidrosis
1743	DLST	HP:0002331	Recurrent paroxysmal headache
1743	DLST	HP:0001095	Hypertensive retinopathy
1743	DLST	HP:0003639	Elevated urinary epinephrine
1743	DLST	HP:0005584	Renal cell carcinoma
1743	DLST	HP:0001962	Palpitations
1743	DLST	HP:0003072	Hypercalcemia
1743	DLST	HP:0000740	Episodic paroxysmal anxiety
1743	DLST	HP:0000790	Hematuria
1743	DLST	HP:0000980	Pallor
1743	DLST	HP:0012222	Arachnoid hemangiomatosis
1743	DLST	HP:0002864	Paraganglioma of head and neck
1743	DLST	HP:0012378	Fatigue
1743	DLST	HP:0001605	Vocal cord paralysis
1743	DLST	HP:0001618	Dysphonia
1743	DLST	HP:0001635	Congestive heart failure
1743	DLST	HP:0000405	Conductive hearing impairment
1743	DLST	HP:0006748	Adrenal pheochromocytoma
1743	DLST	HP:0006737	Extraadrenal pheochromocytoma
1743	DLST	HP:0000526	Aniridia
1743	DLST	HP:0001824	Weight loss
1747	DLX3	HP:0000006	Autosomal dominant inheritance
1747	DLX3	HP:0006297	Enamel hypoplasia
1747	DLX3	HP:0006285	Enamel hypomineralization
1747	DLX3	HP:0006286	Yellow-brown discoloration of the teeth
1747	DLX3	HP:0002007	Frontal bossing
1747	DLX3	HP:0009722	Dental enamel pits
1747	DLX3	HP:0011362	Abnormal hair quantity
1747	DLX3	HP:0000679	Taurodontia
1747	DLX3	HP:0000691	Microdontia
1747	DLX3	HP:0000687	Widely spaced teeth
1747	DLX3	HP:0000705	Amelogenesis imperfecta
1747	DLX3	HP:0030758	Periapical tooth abscess
1747	DLX3	HP:0040019	Finger clinodactyly
1747	DLX3	HP:0000264	Abnormal mastoid morphology
1747	DLX3	HP:0001595	Abnormal hair morphology
1747	DLX3	HP:0001597	Abnormality of the nail
1747	DLX3	HP:0000268	Dolichocephaly
1747	DLX3	HP:0006485	Agenesis of incisor
1747	DLX3	HP:0011001	Increased bone mineral density
1747	DLX3	HP:0030312	Obliteration of the calvarial diploe
1747	DLX3	HP:0001808	Fragile nails
1748	DLX4	HP:0009890	High anterior hairline
1748	DLX4	HP:0000028	Cryptorchidism
1748	DLX4	HP:0008872	Feeding difficulties in infancy
1748	DLX4	HP:0000006	Autosomal dominant inheritance
1748	DLX4	HP:0000175	Cleft palate
1748	DLX4	HP:0006342	Peg-shaped maxillary lateral incisors
1748	DLX4	HP:0007651	Ectropion of lower eyelids
1748	DLX4	HP:0006292	Abnormality of dental eruption
1748	DLX4	HP:0002033	Poor suck
1748	DLX4	HP:0011800	Midface retrusion
1748	DLX4	HP:0009743	Distichiasis
1748	DLX4	HP:0200153	Agenesis of lateral incisor
1748	DLX4	HP:0200136	Oral-pharyngeal dysphagia
1748	DLX4	HP:0009088	Speech articulation difficulties
1748	DLX4	HP:0000689	Dental malocclusion
1748	DLX4	HP:0000653	Sparse eyelashes
1748	DLX4	HP:0004395	Malnutrition
1748	DLX4	HP:0000750	Delayed speech and language development
1748	DLX4	HP:0012905	Euryblepharon
1748	DLX4	HP:0100336	Bilateral cleft lip
1748	DLX4	HP:0100337	Bilateral cleft palate
1748	DLX4	HP:0100334	Unilateral cleft palate
1748	DLX4	HP:0010294	Palate fistula
1748	DLX4	HP:0045075	Sparse eyebrow
1748	DLX4	HP:0100271	Hyponasal speech
1748	DLX4	HP:0000954	Single transverse palmar crease
1748	DLX4	HP:0000286	Epicanthus
1748	DLX4	HP:0000220	Velopharyngeal insufficiency
1748	DLX4	HP:0000202	Orofacial cleft
1748	DLX4	HP:0011044	Abnormal number of permanent teeth
1748	DLX4	HP:0001611	Hypernasal speech
1748	DLX4	HP:0000369	Low-set ears
1748	DLX4	HP:0000316	Hypertelorism
1748	DLX4	HP:0000327	Hypoplasia of the maxilla
1748	DLX4	HP:0000403	Recurrent otitis media
1748	DLX4	HP:0000405	Conductive hearing impairment
1748	DLX4	HP:0000414	Bulbous nose
1748	DLX4	HP:0000411	Protruding ear
1748	DLX4	HP:0000582	Upslanted palpebral fissure
1749	DLX5	HP:0001171	Split hand
1749	DLX5	HP:0001180	Hand oligodactyly
1749	DLX5	HP:0001182	Tapered finger
1749	DLX5	HP:0001159	Syndactyly
1749	DLX5	HP:0001199	Triphalangeal thumb
1749	DLX5	HP:0001249	Intellectual disability
1749	DLX5	HP:0006101	Finger syndactyly
1749	DLX5	HP:0003828	Variable expressivity
1749	DLX5	HP:0003829	Typified by incomplete penetrance
1749	DLX5	HP:0000007	Autosomal recessive inheritance
1749	DLX5	HP:0000006	Autosomal dominant inheritance
1749	DLX5	HP:0002650	Scoliosis
1749	DLX5	HP:0012165	Oligodactyly
1749	DLX5	HP:0000175	Cleft palate
1749	DLX5	HP:0002007	Frontal bossing
1749	DLX5	HP:0003577	Congenital onset
1749	DLX5	HP:0003510	Severe short stature
1749	DLX5	HP:0010055	Broad hallux
1749	DLX5	HP:0030680	Abnormality of cardiovascular system morphology
1749	DLX5	HP:0100257	Ectrodactyly
1749	DLX5	HP:0030084	Clinodactyly
1749	DLX5	HP:0000377	Abnormal pinna morphology
1749	DLX5	HP:0000365	Hearing impairment
1749	DLX5	HP:0004050	Absent hand
1749	DLX5	HP:0000407	Sensorineural hearing impairment
1749	DLX5	HP:0001849	Foot oligodactyly
1749	DLX5	HP:0000526	Aniridia
1749	DLX5	HP:0001839	Split foot
1750	DLX6	HP:0001171	Split hand
1750	DLX6	HP:0006101	Finger syndactyly
1750	DLX6	HP:0012165	Oligodactyly
1750	DLX6	HP:0004050	Absent hand
1750	DLX6	HP:0000407	Sensorineural hearing impairment
1750	DLX6	HP:0000526	Aniridia
1756	DMD	HP:0003731	Quadriceps muscle weakness
1756	DMD	HP:0003707	Calf muscle pseudohypertrophy
1756	DMD	HP:0003701	Proximal muscle weakness
1756	DMD	HP:0003710	Exercise-induced muscle cramps
1756	DMD	HP:0032232	Increased circulating creatine kinase MB isoform
1756	DMD	HP:0001270	Motor delay
1756	DMD	HP:0001256	Intellectual disability, mild
1756	DMD	HP:0001252	Hypotonia
1756	DMD	HP:0001265	Hyporeflexia
1756	DMD	HP:0001263	Global developmental delay
1756	DMD	HP:0002540	Inability to walk
1756	DMD	HP:0002515	Waddling gait
1756	DMD	HP:0002527	Falls
1756	DMD	HP:0002505	Loss of ambulation
1756	DMD	HP:0001371	Flexion contracture
1756	DMD	HP:0012086	Abnormal urinary color
1756	DMD	HP:0001328	Specific learning disability
1756	DMD	HP:0001324	Muscle weakness
1756	DMD	HP:0002650	Scoliosis
1756	DMD	HP:0033755	Increased left ventricular end-diastolic volume
1756	DMD	HP:0008981	Calf muscle hypertrophy
1756	DMD	HP:0002791	Hypoventilation
1756	DMD	HP:0001435	Abnormality of the shoulder girdle musculature
1756	DMD	HP:0001419	X-linked recessive inheritance
1756	DMD	HP:0001417	X-linked inheritance
1756	DMD	HP:0002747	Respiratory insufficiency due to muscle weakness
1756	DMD	HP:0003326	Myalgia
1756	DMD	HP:0003307	Hyperlordosis
1756	DMD	HP:0003323	Progressive muscle weakness
1756	DMD	HP:0003324	Generalized muscle weakness
1756	DMD	HP:0100543	Cognitive impairment
1756	DMD	HP:0002093	Respiratory insufficiency
1756	DMD	HP:0002091	Restrictive ventilatory defect
1756	DMD	HP:0003394	Muscle spasm
1756	DMD	HP:0003391	Gowers sign
1756	DMD	HP:0100578	Lipoatrophy
1756	DMD	HP:0003457	EMG abnormality
1756	DMD	HP:0003409	Distal sensory impairment of all modalities
1756	DMD	HP:0002194	Delayed gross motor development
1756	DMD	HP:0003581	Adult onset
1756	DMD	HP:0003551	Difficulty climbing stairs
1756	DMD	HP:0003546	Exercise intolerance
1756	DMD	HP:0003560	Muscular dystrophy
1756	DMD	HP:0003557	Increased variability in muscle fiber diameter
1756	DMD	HP:0002380	Fasciculations
1756	DMD	HP:0002355	Difficulty walking
1756	DMD	HP:0003621	Juvenile onset
1756	DMD	HP:0003089	Hamstring contractures
1756	DMD	HP:0000750	Delayed speech and language development
1756	DMD	HP:0011463	Childhood onset
1756	DMD	HP:0003115	Abnormal EKG
1756	DMD	HP:0003198	Myopathy
1756	DMD	HP:0003236	Elevated circulating creatine kinase concentration
1756	DMD	HP:0003202	Skeletal muscle atrophy
1756	DMD	HP:0000982	Palmoplantar keratoderma
1756	DMD	HP:0011675	Arrhythmia
1756	DMD	HP:0002814	Abnormality of the lower limb
1756	DMD	HP:0030097	Absent muscle dystrophin expression
1756	DMD	HP:0006380	Knee flexion contracture
1756	DMD	HP:0002878	Respiratory failure
1756	DMD	HP:0002870	Obstructive sleep apnea
1756	DMD	HP:0030051	Tip-toe gait
1756	DMD	HP:0012378	Fatigue
1756	DMD	HP:0002938	Lumbar hyperlordosis
1756	DMD	HP:0002942	Thoracic kyphosis
1756	DMD	HP:0002943	Thoracic scoliosis
1756	DMD	HP:0002913	Myoglobinuria
1756	DMD	HP:0002910	Elevated hepatic transaminase
1756	DMD	HP:0001644	Dilated cardiomyopathy
1756	DMD	HP:0002987	Elbow flexion contracture
1756	DMD	HP:0001635	Congestive heart failure
1756	DMD	HP:0001638	Cardiomyopathy
1756	DMD	HP:0000407	Sensorineural hearing impairment
1756	DMD	HP:0001712	Left ventricular hypertrophy
1756	DMD	HP:0001771	Achilles tendon contracture
1756	DMD	HP:0001763	Pes planus
1756	DMD	HP:0001874	Abnormality of neutrophils
1757	SARDH	HP:0002465	Poor speech
1757	SARDH	HP:0008610	Infantile sensorineural hearing impairment
1757	SARDH	HP:0010896	Hypersarcosinemia
1757	SARDH	HP:0010897	Hypersarcosinuria
1757	SARDH	HP:0001270	Motor delay
1757	SARDH	HP:0001256	Intellectual disability, mild
1757	SARDH	HP:0001251	Ataxia
1757	SARDH	HP:0001263	Global developmental delay
1757	SARDH	HP:0000007	Autosomal recessive inheritance
1757	SARDH	HP:0008947	Infantile muscular hypotonia
1757	SARDH	HP:0002069	Bilateral tonic-clonic seizure
1757	SARDH	HP:0011727	Peroneal muscle weakness
1757	SARDH	HP:0010522	Dyslexia
1757	SARDH	HP:0002273	Tetraparesis
1757	SARDH	HP:0002360	Sleep disturbance
1757	SARDH	HP:0002371	Loss of speech
1757	SARDH	HP:0000648	Optic atrophy
1757	SARDH	HP:0100022	Abnormality of movement
1757	SARDH	HP:0000712	Emotional lability
1757	SARDH	HP:0007875	Congenital blindness
1757	SARDH	HP:0001642	Pulmonic stenosis
1757	SARDH	HP:0001639	Hypertrophic cardiomyopathy
1757	SARDH	HP:0000486	Strabismus
1758	DMP1	HP:0001250	Seizure
1758	DMP1	HP:0008732	Renal hypophosphatemia
1758	DMP1	HP:0012052	Low serum calcitriol
1758	DMP1	HP:0001363	Craniosynostosis
1758	DMP1	HP:0001324	Muscle weakness
1758	DMP1	HP:0000007	Autosomal recessive inheritance
1758	DMP1	HP:0002652	Skeletal dysplasia
1758	DMP1	HP:0002653	Bone pain
1758	DMP1	HP:0000117	Renal phosphate wasting
1758	DMP1	HP:0002748	Rickets
1758	DMP1	HP:0002749	Osteomalacia
1758	DMP1	HP:0002024	Malabsorption
1758	DMP1	HP:0100559	Lower limb asymmetry
1758	DMP1	HP:0100511	Abnormality of vitamin D metabolism
1758	DMP1	HP:0003472	Hypocalcemic tetany
1758	DMP1	HP:0002148	Hypophosphatemia
1758	DMP1	HP:0003416	Spinal canal stenosis
1758	DMP1	HP:0100781	Abnormal sacroiliac joint morphology
1758	DMP1	HP:0010639	Elevated alkaline phosphatase of bone origin
1758	DMP1	HP:0100671	Abnormal trabecular bone morphology
1758	DMP1	HP:0100686	Enthesitis
1758	DMP1	HP:0004912	Hypophosphatemic rickets
1758	DMP1	HP:0000684	Delayed eruption of teeth
1758	DMP1	HP:0004322	Short stature
1758	DMP1	HP:0003020	Enlargement of the wrists
1758	DMP1	HP:0100036	Pseudo-fractures
1758	DMP1	HP:0003109	Hyperphosphaturia
1758	DMP1	HP:0030757	Tooth abscess
1758	DMP1	HP:0005764	Polyarticular arthritis
1758	DMP1	HP:0004576	Sclerotic vertebral endplates
1758	DMP1	HP:0006463	Rickets of the lower limbs
1758	DMP1	HP:0005096	Distal femoral bowing
1758	DMP1	HP:0002814	Abnormality of the lower limb
1758	DMP1	HP:0002812	Coxa vara
1758	DMP1	HP:0001510	Growth delay
1758	DMP1	HP:0011036	Abnormality of renal excretion
1758	DMP1	HP:0011001	Increased bone mineral density
1758	DMP1	HP:0002982	Tibial bowing
1758	DMP1	HP:0002970	Genu varum
1758	DMP1	HP:0000407	Sensorineural hearing impairment
1759	DNM1	HP:0007270	Atypical absence seizure
1759	DNM1	HP:0002421	Poor head control
1759	DNM1	HP:0001298	Encephalopathy
1759	DNM1	HP:0001290	Generalized hypotonia
1759	DNM1	HP:0001273	Abnormal corpus callosum morphology
1759	DNM1	HP:0001268	Mental deterioration
1759	DNM1	HP:0001250	Seizure
1759	DNM1	HP:0001252	Hypotonia
1759	DNM1	HP:0001251	Ataxia
1759	DNM1	HP:0001249	Intellectual disability
1759	DNM1	HP:0001265	Hyporeflexia
1759	DNM1	HP:0001263	Global developmental delay
1759	DNM1	HP:0001257	Spasticity
1759	DNM1	HP:0007359	Focal-onset seizure
1759	DNM1	HP:0002540	Inability to walk
1759	DNM1	HP:0002521	Hypsarrhythmia
1759	DNM1	HP:0002527	Falls
1759	DNM1	HP:0002509	Limb hypertonia
1759	DNM1	HP:0012075	Personality disorder
1759	DNM1	HP:0001344	Absent speech
1759	DNM1	HP:0001337	Tremor
1759	DNM1	HP:0000006	Autosomal dominant inheritance
1759	DNM1	HP:0001336	Myoclonus
1759	DNM1	HP:0001315	Reduced tendon reflexes
1759	DNM1	HP:0002020	Gastroesophageal reflux
1759	DNM1	HP:0002069	Bilateral tonic-clonic seizure
1759	DNM1	HP:0002063	Rigidity
1759	DNM1	HP:0002059	Cerebral atrophy
1759	DNM1	HP:0002123	Generalized myoclonic seizure
1759	DNM1	HP:0002133	Status epilepticus
1759	DNM1	HP:0100710	Impulsivity
1759	DNM1	HP:0100716	Self-injurious behavior
1759	DNM1	HP:0200134	Epileptic encephalopathy
1759	DNM1	HP:0007018	Attention deficit hyperactivity disorder
1759	DNM1	HP:0011968	Feeding difficulties
1759	DNM1	HP:0002363	Abnormal brainstem morphology
1759	DNM1	HP:0002376	Developmental regression
1759	DNM1	HP:0002355	Difficulty walking
1759	DNM1	HP:0002353	EEG abnormality
1759	DNM1	HP:0002317	Unsteady gait
1759	DNM1	HP:0010844	EEG with multifocal slow activity
1759	DNM1	HP:0100660	Dyskinesia
1759	DNM1	HP:0010819	Atonic seizure
1759	DNM1	HP:0010818	Generalized tonic seizure
1759	DNM1	HP:0000639	Nystagmus
1759	DNM1	HP:0000648	Optic atrophy
1759	DNM1	HP:0000668	Hypodontia
1759	DNM1	HP:0004322	Short stature
1759	DNM1	HP:0004305	Involuntary movements
1759	DNM1	HP:0000752	Hyperactivity
1759	DNM1	HP:0000750	Delayed speech and language development
1759	DNM1	HP:0000718	Aggressive behavior
1759	DNM1	HP:0000717	Autism
1759	DNM1	HP:0000729	Autistic behavior
1759	DNM1	HP:0000708	Atypical behavior
1759	DNM1	HP:0011443	Abnormality of coordination
1759	DNM1	HP:0000252	Microcephaly
1759	DNM1	HP:0001558	Decreased fetal movement
1759	DNM1	HP:0001508	Failure to thrive
1759	DNM1	HP:0000348	High forehead
1759	DNM1	HP:0011195	EEG with focal sharp slow waves
1759	DNM1	HP:0000494	Downslanted palpebral fissures
1759	DNM1	HP:0012444	Brain atrophy
1759	DNM1	HP:0012447	Abnormal myelination
1759	DNM1	HP:0000508	Ptosis
1759	DNM1	HP:0000504	Abnormality of vision
1759	DNM1	HP:0012547	Abnormal involuntary eye movements
1759	DNM1	HP:0000546	Retinal degeneration
1760	DMPK	HP:0002486	Myotonia
1760	DMPK	HP:0010864	Intellectual disability, severe
1760	DMPK	HP:0001290	Generalized hypotonia
1760	DMPK	HP:0001252	Hypotonia
1760	DMPK	HP:0001262	Excessive daytime somnolence
1760	DMPK	HP:0008770	Obsessive-compulsive trait
1760	DMPK	HP:0001349	Facial diplegia
1760	DMPK	HP:0000029	Testicular atrophy
1760	DMPK	HP:0008872	Feeding difficulties in infancy
1760	DMPK	HP:0001324	Muscle weakness
1760	DMPK	HP:0000006	Autosomal dominant inheritance
1760	DMPK	HP:0002650	Scoliosis
1760	DMPK	HP:0001319	Neonatal hypotonia
1760	DMPK	HP:0002643	Neonatal respiratory distress
1760	DMPK	HP:0000135	Hypogonadism
1760	DMPK	HP:0002020	Gastroesophageal reflux
1760	DMPK	HP:0002019	Constipation
1760	DMPK	HP:0002027	Abdominal pain
1760	DMPK	HP:0002014	Diarrhea
1760	DMPK	HP:0002015	Dysphagia
1760	DMPK	HP:0002098	Respiratory distress
1760	DMPK	HP:0002059	Cerebral atrophy
1760	DMPK	HP:0011710	Bundle branch block
1760	DMPK	HP:0011705	First degree atrioventricular block
1760	DMPK	HP:0002119	Ventriculomegaly
1760	DMPK	HP:0004749	Atrial flutter
1760	DMPK	HP:0002292	Frontal balding
1760	DMPK	HP:0007010	Poor fine motor coordination
1760	DMPK	HP:0002360	Sleep disturbance
1760	DMPK	HP:0010804	Tented upper lip vermilion
1760	DMPK	HP:0001081	Cholelithiasis
1760	DMPK	HP:0031843	Bradyphrenia
1760	DMPK	HP:0006887	Intellectual disability, progressive
1760	DMPK	HP:0004325	Decreased body weight
1760	DMPK	HP:0000805	Enuresis
1760	DMPK	HP:0000752	Hyperactivity
1760	DMPK	HP:0000736	Short attention span
1760	DMPK	HP:0000750	Delayed speech and language development
1760	DMPK	HP:0000729	Autistic behavior
1760	DMPK	HP:0040183	Encopresis
1760	DMPK	HP:0000297	Facial hypotonia
1760	DMPK	HP:0000256	Macrocephaly
1760	DMPK	HP:0005110	Atrial fibrillation
1760	DMPK	HP:0001561	Polyhydramnios
1760	DMPK	HP:0001558	Decreased fetal movement
1760	DMPK	HP:0001513	Obesity
1760	DMPK	HP:0011098	Speech apraxia
1760	DMPK	HP:0001671	Abnormal cardiac septum morphology
1760	DMPK	HP:0001643	Patent ductus arteriosus
1760	DMPK	HP:0001622	Premature birth
1760	DMPK	HP:0000518	Cataract
1760	DMPK	HP:0001883	Talipes
1761	DMRT1	HP:0008715	Testicular dysgenesis
1761	DMRT1	HP:0000044	Hypogonadotropic hypogonadism
1761	DMRT1	HP:0000037	Male pseudohermaphroditism
1761	DMRT1	HP:0000147	Polycystic ovaries
1763	DNA2	HP:0003749	Pelvic girdle muscle weakness
1763	DNA2	HP:0003737	Mitochondrial myopathy
1763	DNA2	HP:0003700	Generalized amyotrophy
1763	DNA2	HP:0001290	Generalized hypotonia
1763	DNA2	HP:0001288	Gait disturbance
1763	DNA2	HP:0001249	Intellectual disability
1763	DNA2	HP:0001263	Global developmental delay
1763	DNA2	HP:0002527	Falls
1763	DNA2	HP:0000086	Ectopic kidney
1763	DNA2	HP:0001324	Muscle weakness
1763	DNA2	HP:0000007	Autosomal recessive inheritance
1763	DNA2	HP:0000006	Autosomal dominant inheritance
1763	DNA2	HP:0002751	Kyphoscoliosis
1763	DNA2	HP:0003325	Limb-girdle muscle weakness
1763	DNA2	HP:0003326	Myalgia
1763	DNA2	HP:0004673	Decreased facial expression
1763	DNA2	HP:0003307	Hyperlordosis
1763	DNA2	HP:0002094	Dyspnea
1763	DNA2	HP:0003394	Muscle spasm
1763	DNA2	HP:0003391	Gowers sign
1763	DNA2	HP:0002176	Spinal cord compression
1763	DNA2	HP:0003577	Congenital onset
1763	DNA2	HP:0003581	Adult onset
1763	DNA2	HP:0003551	Difficulty climbing stairs
1763	DNA2	HP:0003547	Shoulder girdle muscle weakness
1763	DNA2	HP:0003546	Exercise intolerance
1763	DNA2	HP:0008331	Elevated creatine kinase after exercise
1763	DNA2	HP:0003689	Multiple mitochondrial DNA deletions
1763	DNA2	HP:0002355	Difficulty walking
1763	DNA2	HP:0003677	Slowly progressive
1763	DNA2	HP:0004322	Short stature
1763	DNA2	HP:0000716	Depression
1763	DNA2	HP:0011462	Young adult onset
1763	DNA2	HP:0003198	Myopathy
1763	DNA2	HP:0040013	Decreased mitochondrial number
1763	DNA2	HP:0003236	Elevated circulating creatine kinase concentration
1763	DNA2	HP:0002828	Multiple joint contractures
1763	DNA2	HP:0000252	Microcephaly
1763	DNA2	HP:0002875	Exertional dyspnea
1763	DNA2	HP:0001558	Decreased fetal movement
1763	DNA2	HP:0002870	Obstructive sleep apnea
1763	DNA2	HP:0001533	Slender build
1763	DNA2	HP:0000347	Micrognathia
1763	DNA2	HP:0001655	Patent foramen ovale
1763	DNA2	HP:0007970	Congenital ptosis
1763	DNA2	HP:0000444	Convex nasal ridge
1763	DNA2	HP:0000508	Ptosis
1763	DNA2	HP:0000597	Ophthalmoparesis
1763	DNA2	HP:0000590	Progressive external ophthalmoplegia
1767	DNAH5	HP:0025177	Peribronchovascular interstitial thickening
1767	DNAH5	HP:0002566	Intestinal malrotation
1767	DNAH5	HP:0001217	Clubbing
1767	DNAH5	HP:0000007	Autosomal recessive inheritance
1767	DNAH5	HP:0002643	Neonatal respiratory distress
1767	DNAH5	HP:0000119	Abnormality of the genitourinary system
1767	DNAH5	HP:0032543	Lithoptysis
1767	DNAH5	HP:0031245	Productive cough
1767	DNAH5	HP:0002011	Morphological central nervous system abnormality
1767	DNAH5	HP:0100582	Nasal polyposis
1767	DNAH5	HP:0002119	Ventriculomegaly
1767	DNAH5	HP:0002110	Bronchiectasis
1767	DNAH5	HP:0008222	Female infertility
1767	DNAH5	HP:0003593	Infantile onset
1767	DNAH5	HP:0002257	Chronic rhinitis
1767	DNAH5	HP:0002205	Recurrent respiratory infections
1767	DNAH5	HP:0100750	Atelectasis
1767	DNAH5	HP:0032016	Abnormal sputum
1767	DNAH5	HP:0011947	Respiratory tract infection
1767	DNAH5	HP:0010772	Anomalous pulmonary venous return
1767	DNAH5	HP:0003623	Neonatal onset
1767	DNAH5	HP:0030680	Abnormality of cardiovascular system morphology
1767	DNAH5	HP:0000750	Delayed speech and language development
1767	DNAH5	HP:0000924	Abnormality of the skeletal system
1767	DNAH5	HP:0011539	Atrial situs ambiguous
1767	DNAH5	HP:0011535	Abnormal atrial arrangement
1767	DNAH5	HP:0030828	Wheezing
1767	DNAH5	HP:0003251	Male infertility
1767	DNAH5	HP:0011617	Pulmonary situs ambiguus
1767	DNAH5	HP:0033036	Decreased nasal nitric oxide
1767	DNAH5	HP:0025576	Abnormal inferior vena cava morphology
1767	DNAH5	HP:0012265	Ciliary dyskinesia
1767	DNAH5	HP:0000238	Hydrocephalus
1767	DNAH5	HP:0012206	Abnormal sperm motility
1767	DNAH5	HP:0002878	Respiratory failure
1767	DNAH5	HP:0000389	Chronic otitis media
1767	DNAH5	HP:0006536	Airway obstruction
1767	DNAH5	HP:0001696	Situs inversus totalis
1767	DNAH5	HP:0000365	Hearing impairment
1767	DNAH5	HP:0001669	Transposition of the great arteries
1767	DNAH5	HP:0031456	Ectopic pregnancy
1767	DNAH5	HP:0001627	Abnormal heart morphology
1767	DNAH5	HP:0005301	Persistent left superior vena cava
1767	DNAH5	HP:0000403	Recurrent otitis media
1767	DNAH5	HP:0000405	Conductive hearing impairment
1767	DNAH5	HP:0001719	Double outlet right ventricle
1767	DNAH5	HP:0011109	Chronic sinusitis
1767	DNAH5	HP:0011108	Recurrent sinusitis
1767	DNAH5	HP:0001746	Asplenia
1767	DNAH5	HP:0001748	Polysplenia
1767	DNAH5	HP:0001742	Nasal congestion
1767	DNAH5	HP:0005425	Recurrent sinopulmonary infections
1767	DNAH5	HP:0011274	Recurrent mycobacterial infections
1767	DNAH5	HP:0000510	Rod-cone dystrophy
1769	DNAH8	HP:0000007	Autosomal recessive inheritance
1769	DNAH8	HP:0032558	Absent sperm flagella
1769	DNAH8	HP:0032559	Short sperm flagella
1769	DNAH8	HP:0032560	Coiled sperm flagella
1769	DNAH8	HP:0003581	Adult onset
1769	DNAH8	HP:0033393	Irregularly shaped sperm tail
1769	DNAH8	HP:0003251	Male infertility
1769	DNAH8	HP:0012207	Reduced sperm motility
1770	DNAH9	HP:0025177	Peribronchovascular interstitial thickening
1770	DNAH9	HP:0002566	Intestinal malrotation
1770	DNAH9	HP:0001217	Clubbing
1770	DNAH9	HP:0032342	Reduced forced expiratory volume in one second
1770	DNAH9	HP:0012020	Right aortic arch
1770	DNAH9	HP:0000027	Azoospermia
1770	DNAH9	HP:0000007	Autosomal recessive inheritance
1770	DNAH9	HP:0002643	Neonatal respiratory distress
1770	DNAH9	HP:0000119	Abnormality of the genitourinary system
1770	DNAH9	HP:0032543	Lithoptysis
1770	DNAH9	HP:0031245	Productive cough
1770	DNAH9	HP:0002011	Morphological central nervous system abnormality
1770	DNAH9	HP:0100582	Nasal polyposis
1770	DNAH9	HP:0033158	Reduced respiratory ciliary beating frequency
1770	DNAH9	HP:0002119	Ventriculomegaly
1770	DNAH9	HP:0002110	Bronchiectasis
1770	DNAH9	HP:0008222	Female infertility
1770	DNAH9	HP:0003577	Congenital onset
1770	DNAH9	HP:0002257	Chronic rhinitis
1770	DNAH9	HP:0100750	Atelectasis
1770	DNAH9	HP:0032016	Abnormal sputum
1770	DNAH9	HP:0011947	Respiratory tract infection
1770	DNAH9	HP:0010772	Anomalous pulmonary venous return
1770	DNAH9	HP:0003621	Juvenile onset
1770	DNAH9	HP:0031854	Left Isomerism
1770	DNAH9	HP:0030680	Abnormality of cardiovascular system morphology
1770	DNAH9	HP:0012735	Cough
1770	DNAH9	HP:0000750	Delayed speech and language development
1770	DNAH9	HP:0011463	Childhood onset
1770	DNAH9	HP:0000789	Infertility
1770	DNAH9	HP:0000924	Abnormality of the skeletal system
1770	DNAH9	HP:0011539	Atrial situs ambiguous
1770	DNAH9	HP:0011535	Abnormal atrial arrangement
1770	DNAH9	HP:0011540	Congenitally corrected transposition of the great arteries
1770	DNAH9	HP:0011579	Unbalanced atrioventricular canal defect
1770	DNAH9	HP:0030828	Wheezing
1770	DNAH9	HP:0003251	Male infertility
1770	DNAH9	HP:0011617	Pulmonary situs ambiguus
1770	DNAH9	HP:0033036	Decreased nasal nitric oxide
1770	DNAH9	HP:0011671	Interrupted inferior vena cava with azygous continuation
1770	DNAH9	HP:0025576	Abnormal inferior vena cava morphology
1770	DNAH9	HP:0012256	Absent outer dynein arms
1770	DNAH9	HP:0000238	Hydrocephalus
1770	DNAH9	HP:0012206	Abnormal sperm motility
1770	DNAH9	HP:0002878	Respiratory failure
1770	DNAH9	HP:0000389	Chronic otitis media
1770	DNAH9	HP:0006536	Airway obstruction
1770	DNAH9	HP:0001696	Situs inversus totalis
1770	DNAH9	HP:0000365	Hearing impairment
1770	DNAH9	HP:0001669	Transposition of the great arteries
1770	DNAH9	HP:0031456	Ectopic pregnancy
1770	DNAH9	HP:0001643	Patent ductus arteriosus
1770	DNAH9	HP:0001627	Abnormal heart morphology
1770	DNAH9	HP:0005301	Persistent left superior vena cava
1770	DNAH9	HP:0006695	Atrioventricular canal defect
1770	DNAH9	HP:0000403	Recurrent otitis media
1770	DNAH9	HP:0000405	Conductive hearing impairment
1770	DNAH9	HP:0001719	Double outlet right ventricle
1770	DNAH9	HP:0011109	Chronic sinusitis
1770	DNAH9	HP:0001746	Asplenia
1770	DNAH9	HP:0001748	Polysplenia
1770	DNAH9	HP:0001742	Nasal congestion
1770	DNAH9	HP:0005425	Recurrent sinopulmonary infections
1770	DNAH9	HP:0011274	Recurrent mycobacterial infections
1770	DNAH9	HP:0000510	Rod-cone dystrophy
1773	DNASE1	HP:0001250	Seizure
1773	DNASE1	HP:0001369	Arthritis
1773	DNASE1	HP:0033726	Lupus nephritis
1773	DNASE1	HP:0025300	Malar rash
1773	DNASE1	HP:0000006	Autosomal dominant inheritance
1773	DNASE1	HP:0000123	Nephritis
1773	DNASE1	HP:0002725	Systemic lupus erythematosus
1773	DNASE1	HP:0002102	Pleuritis
1773	DNASE1	HP:0003493	Antinuclear antibody positivity
1773	DNASE1	HP:0003613	Antiphospholipid antibody positivity
1773	DNASE1	HP:0000709	Psychosis
1773	DNASE1	HP:0000992	Cutaneous photosensitivity
1773	DNASE1	HP:0001701	Pericarditis
1773	DNASE1	HP:0001882	Leukopenia
1773	DNASE1	HP:0001878	Hemolytic anemia
1773	DNASE1	HP:0001873	Thrombocytopenia
1776	DNASE1L3	HP:0032229	Perinuclear antineutrophil antibody positivity
1776	DNASE1L3	HP:0100820	Glomerulopathy
1776	DNASE1L3	HP:0001287	Meningitis
1776	DNASE1L3	HP:0001250	Seizure
1776	DNASE1L3	HP:0001251	Ataxia
1776	DNASE1L3	HP:0007400	Irregular hyperpigmentation
1776	DNASE1L3	HP:0000083	Renal insufficiency
1776	DNASE1L3	HP:0000093	Proteinuria
1776	DNASE1L3	HP:0001373	Joint dislocation
1776	DNASE1L3	HP:0001369	Arthritis
1776	DNASE1L3	HP:0033726	Lupus nephritis
1776	DNASE1L3	HP:0000007	Autosomal recessive inheritance
1776	DNASE1L3	HP:0002665	Lymphoma
1776	DNASE1L3	HP:0001315	Reduced tendon reflexes
1776	DNASE1L3	HP:0002718	Recurrent bacterial infections
1776	DNASE1L3	HP:0002716	Lymphadenopathy
1776	DNASE1L3	HP:0002725	Systemic lupus erythematosus
1776	DNASE1L3	HP:0002017	Nausea and vomiting
1776	DNASE1L3	HP:0002027	Abdominal pain
1776	DNASE1L3	HP:0003326	Myalgia
1776	DNASE1L3	HP:0002014	Diarrhea
1776	DNASE1L3	HP:0100534	Episcleritis
1776	DNASE1L3	HP:0100533	Inflammatory abnormality of the eye
1776	DNASE1L3	HP:0002097	Emphysema
1776	DNASE1L3	HP:0002094	Dyspnea
1776	DNASE1L3	HP:0002091	Restrictive ventilatory defect
1776	DNASE1L3	HP:0002105	Hemoptysis
1776	DNASE1L3	HP:0003493	Antinuclear antibody positivity
1776	DNASE1L3	HP:0002240	Hepatomegaly
1776	DNASE1L3	HP:0002202	Pleural effusion
1776	DNASE1L3	HP:0011944	Small vessel vasculitis
1776	DNASE1L3	HP:0100665	Angioedema
1776	DNASE1L3	HP:0009830	Peripheral neuropathy
1776	DNASE1L3	HP:0003621	Juvenile onset
1776	DNASE1L3	HP:0020151	Anti-dsDNA antibody positivity
1776	DNASE1L3	HP:0006824	Cranial nerve paralysis
1776	DNASE1L3	HP:0004374	Hemiplegia/hemiparesis
1776	DNASE1L3	HP:0012735	Cough
1776	DNASE1L3	HP:0100021	Cerebral palsy
1776	DNASE1L3	HP:0000763	Sensory neuropathy
1776	DNASE1L3	HP:0011463	Childhood onset
1776	DNASE1L3	HP:0000790	Hematuria
1776	DNASE1L3	HP:0004431	Complement deficiency
1776	DNASE1L3	HP:0100326	Immunologic hypersensitivity
1776	DNASE1L3	HP:0045042	Decreased circulating complement C4 concentration
1776	DNASE1L3	HP:0000989	Pruritus
1776	DNASE1L3	HP:0000988	Skin rash
1776	DNASE1L3	HP:0001541	Ascites
1776	DNASE1L3	HP:0006536	Airway obstruction
1776	DNASE1L3	HP:0001698	Pericardial effusion
1776	DNASE1L3	HP:0001654	Abnormal heart valve morphology
1776	DNASE1L3	HP:0002960	Autoimmunity
1776	DNASE1L3	HP:0000407	Sensorineural hearing impairment
1776	DNASE1L3	HP:0001744	Splenomegaly
1776	DNASE1L3	HP:0005421	Decreased circulating complement C3 concentration
1776	DNASE1L3	HP:0000509	Conjunctivitis
1776	DNASE1L3	HP:0000554	Uveitis
1777	DNASE2	HP:0032252	Granuloma
1777	DNASE2	HP:0001270	Motor delay
1777	DNASE2	HP:0000093	Proteinuria
1777	DNASE2	HP:0001395	Hepatic fibrosis
1777	DNASE2	HP:0000007	Autosomal recessive inheritance
1777	DNASE2	HP:0002611	Cholestatic liver disease
1777	DNASE2	HP:0012156	Hemophagocytosis
1777	DNASE2	HP:0001433	Hepatosplenomegaly
1777	DNASE2	HP:0002028	Chronic diarrhea
1777	DNASE2	HP:0002194	Delayed gross motor development
1777	DNASE2	HP:0003577	Congenital onset
1777	DNASE2	HP:0009710	Chilblains
1777	DNASE2	HP:0100651	Type I diabetes mellitus
1777	DNASE2	HP:0003623	Neonatal onset
1777	DNASE2	HP:4000055	Intestinal inflammation
1777	DNASE2	HP:0001945	Fever
1777	DNASE2	HP:0001954	Recurrent fever
1777	DNASE2	HP:0003040	Arthropathy
1777	DNASE2	HP:0009125	Lipodystrophy
1777	DNASE2	HP:0000793	Membranoproliferative glomerulonephritis
1777	DNASE2	HP:0001508	Failure to thrive
1777	DNASE2	HP:0001510	Growth delay
1777	DNASE2	HP:0031693	Severe Epstein Barr virus infection
1777	DNASE2	HP:0001876	Pancytopenia
1778	DYNC1H1	HP:0001169	Broad palm
1778	DYNC1H1	HP:0002460	Distal muscle weakness
1778	DYNC1H1	HP:0007269	Spinal muscular atrophy
1778	DYNC1H1	HP:0001270	Motor delay
1778	DYNC1H1	HP:0001288	Gait disturbance
1778	DYNC1H1	HP:0001250	Seizure
1778	DYNC1H1	HP:0001252	Hypotonia
1778	DYNC1H1	HP:0001249	Intellectual disability
1778	DYNC1H1	HP:0001265	Hyporeflexia
1778	DYNC1H1	HP:0001263	Global developmental delay
1778	DYNC1H1	HP:0007359	Focal-onset seizure
1778	DYNC1H1	HP:0002515	Waddling gait
1778	DYNC1H1	HP:0002510	Spastic tetraplegia
1778	DYNC1H1	HP:0001357	Plagiocephaly
1778	DYNC1H1	HP:0000006	Autosomal dominant inheritance
1778	DYNC1H1	HP:0001302	Pachygyria
1778	DYNC1H1	HP:0001320	Cerebellar vermis hypoplasia
1778	DYNC1H1	HP:0008994	Proximal muscle weakness in lower limbs
1778	DYNC1H1	HP:0008956	Proximal lower limb amyotrophy
1778	DYNC1H1	HP:0011808	Decreased patellar reflex
1778	DYNC1H1	HP:0002079	Hypoplasia of the corpus callosum
1778	DYNC1H1	HP:0003477	Peripheral axonal neuropathy
1778	DYNC1H1	HP:0003474	Somatic sensory dysfunction
1778	DYNC1H1	HP:0003445	EMG: neuropathic changes
1778	DYNC1H1	HP:0010602	Type 2 muscle fiber predominance
1778	DYNC1H1	HP:0003593	Infantile onset
1778	DYNC1H1	HP:0032046	Focal cortical dysplasia
1778	DYNC1H1	HP:0002365	Hypoplasia of the brainstem
1778	DYNC1H1	HP:0003690	Limb muscle weakness
1778	DYNC1H1	HP:0002359	Frequent falls
1778	DYNC1H1	HP:0003677	Slowly progressive
1778	DYNC1H1	HP:0009830	Peripheral neuropathy
1778	DYNC1H1	HP:0006821	Frontal polymicrogyria
1778	DYNC1H1	HP:0004279	Short palm
1778	DYNC1H1	HP:0009046	Difficulty running
1778	DYNC1H1	HP:0031936	Delayed ability to walk
1778	DYNC1H1	HP:0000750	Delayed speech and language development
1778	DYNC1H1	HP:0011463	Childhood onset
1778	DYNC1H1	HP:0000297	Facial hypotonia
1778	DYNC1H1	HP:0000252	Microcephaly
1778	DYNC1H1	HP:0030051	Tip-toe gait
1778	DYNC1H1	HP:0002936	Distal sensory impairment
1778	DYNC1H1	HP:0000494	Downslanted palpebral fissures
1778	DYNC1H1	HP:0001773	Short foot
1778	DYNC1H1	HP:0001769	Broad foot
1778	DYNC1H1	HP:0001760	Abnormal foot morphology
1778	DYNC1H1	HP:0001761	Pes cavus
1778	DYNC1H1	HP:0011220	Prominent forehead
1778	DYNC1H1	HP:0001883	Talipes
1781	DYNC1I2	HP:0010864	Intellectual disability, severe
1781	DYNC1I2	HP:0009879	Simplified gyral pattern
1781	DYNC1I2	HP:0001290	Generalized hypotonia
1781	DYNC1I2	HP:0001274	Agenesis of corpus callosum
1781	DYNC1I2	HP:0001270	Motor delay
1781	DYNC1I2	HP:0001250	Seizure
1781	DYNC1I2	HP:0001260	Dysarthria
1781	DYNC1I2	HP:0001263	Global developmental delay
1781	DYNC1I2	HP:0001257	Spasticity
1781	DYNC1I2	HP:0002540	Inability to walk
1781	DYNC1I2	HP:0001347	Hyperreflexia
1781	DYNC1I2	HP:0001331	Absent septum pellucidum
1781	DYNC1I2	HP:0000007	Autosomal recessive inheritance
1781	DYNC1I2	HP:0002079	Hypoplasia of the corpus callosum
1781	DYNC1I2	HP:0002059	Cerebral atrophy
1781	DYNC1I2	HP:0003593	Infantile onset
1781	DYNC1I2	HP:0007018	Attention deficit hyperactivity disorder
1781	DYNC1I2	HP:0002365	Hypoplasia of the brainstem
1781	DYNC1I2	HP:0011344	Severe global developmental delay
1781	DYNC1I2	HP:0004322	Short stature
1781	DYNC1I2	HP:0031936	Delayed ability to walk
1781	DYNC1I2	HP:0000750	Delayed speech and language development
1781	DYNC1I2	HP:0000718	Aggressive behavior
1781	DYNC1I2	HP:0000252	Microcephaly
1781	DYNC1I2	HP:0000340	Sloping forehead
1781	DYNC1I2	HP:0000463	Anteverted nares
1781	DYNC1I2	HP:0000448	Prominent nose
1781	DYNC1I2	HP:0000414	Bulbous nose
1781	DYNC1I2	HP:0000520	Proptosis
1781	DYNC1I2	HP:0000582	Upslanted palpebral fissure
1785	DNM2	HP:0002460	Distal muscle weakness
1785	DNM2	HP:0010851	EEG with burst suppression
1785	DNM2	HP:0003738	Exercise-induced myalgia
1785	DNM2	HP:0003701	Proximal muscle weakness
1785	DNM2	HP:0003712	Skeletal muscle hypertrophy
1785	DNM2	HP:0001290	Generalized hypotonia
1785	DNM2	HP:0001270	Motor delay
1785	DNM2	HP:0001284	Areflexia
1785	DNM2	HP:0001252	Hypotonia
1785	DNM2	HP:0001265	Hyporeflexia
1785	DNM2	HP:0002522	Areflexia of lower limbs
1785	DNM2	HP:0003803	Type 1 muscle fiber predominance
1785	DNM2	HP:0001371	Flexion contracture
1785	DNM2	HP:0000020	Urinary incontinence
1785	DNM2	HP:0000028	Cryptorchidism
1785	DNM2	HP:0000007	Autosomal recessive inheritance
1785	DNM2	HP:0000006	Autosomal dominant inheritance
1785	DNM2	HP:0008994	Proximal muscle weakness in lower limbs
1785	DNM2	HP:0008997	Proximal muscle weakness in upper limbs
1785	DNM2	HP:0008981	Calf muscle hypertrophy
1785	DNM2	HP:0008948	Proximal upper limb amyotrophy
1785	DNM2	HP:0001436	Abnormality of the foot musculature
1785	DNM2	HP:0002747	Respiratory insufficiency due to muscle weakness
1785	DNM2	HP:0002021	Pyloric stenosis
1785	DNM2	HP:0003307	Hyperlordosis
1785	DNM2	HP:0002093	Respiratory insufficiency
1785	DNM2	HP:0002047	Malignant hyperthermia
1785	DNM2	HP:0003388	Easy fatigability
1785	DNM2	HP:0003383	Onion bulb formation
1785	DNM2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
1785	DNM2	HP:0008180	Mildly elevated creatine kinase
1785	DNM2	HP:0003477	Peripheral axonal neuropathy
1785	DNM2	HP:0003481	Segmental peripheral demyelination/remyelination
1785	DNM2	HP:0003458	EMG: myopathic abnormalities
1785	DNM2	HP:0002194	Delayed gross motor development
1785	DNM2	HP:0010546	Muscle fibrillation
1785	DNM2	HP:0003593	Infantile onset
1785	DNM2	HP:0003577	Congenital onset
1785	DNM2	HP:0010628	Facial palsy
1785	DNM2	HP:0001048	Cavernous hemangioma
1785	DNM2	HP:0003693	Distal amyotrophy
1785	DNM2	HP:0002355	Difficulty walking
1785	DNM2	HP:0003687	Centrally nucleated skeletal muscle fibers
1785	DNM2	HP:0003677	Slowly progressive
1785	DNM2	HP:0007126	Proximal amyotrophy
1785	DNM2	HP:0007107	Segmental peripheral demyelination
1785	DNM2	HP:0003621	Juvenile onset
1785	DNM2	HP:0009053	Distal lower limb muscle weakness
1785	DNM2	HP:0000762	Decreased nerve conduction velocity
1785	DNM2	HP:0000764	Peripheral axonal degeneration
1785	DNM2	HP:0012768	Neonatal asphyxia
1785	DNM2	HP:0100309	Subdural hemorrhage
1785	DNM2	HP:0004488	Macrocephaly at birth
1785	DNM2	HP:0000883	Thin ribs
1785	DNM2	HP:0040078	Axonal degeneration
1785	DNM2	HP:0003236	Elevated circulating creatine kinase concentration
1785	DNM2	HP:0100284	EMG: myotonic discharges
1785	DNM2	HP:0002803	Congenital contracture
1785	DNM2	HP:0030007	EMG: positive sharp waves
1785	DNM2	HP:0001561	Polyhydramnios
1785	DNM2	HP:0001558	Decreased fetal movement
1785	DNM2	HP:0001522	Death in infancy
1785	DNM2	HP:0001520	Large for gestational age
1785	DNM2	HP:0001518	Small for gestational age
1785	DNM2	HP:0005268	Miscarriage
1785	DNM2	HP:0002936	Distal sensory impairment
1785	DNM2	HP:0005335	Sleepy facial expression
1785	DNM2	HP:0001761	Pes cavus
1785	DNM2	HP:0000508	Ptosis
1785	DNM2	HP:0000573	Retinal hemorrhage
1785	DNM2	HP:0000544	External ophthalmoplegia
1786	DNMT1	HP:0002494	Abnormal rapid eye movement sleep
1786	DNMT1	HP:0002460	Distal muscle weakness
1786	DNMT1	HP:0002476	Primitive reflex
1786	DNMT1	HP:0001272	Cerebellar atrophy
1786	DNMT1	HP:0001268	Mental deterioration
1786	DNMT1	HP:0025233	Sleep paralysis
1786	DNMT1	HP:0001251	Ataxia
1786	DNMT1	HP:0001265	Hyporeflexia
1786	DNMT1	HP:0001262	Excessive daytime somnolence
1786	DNMT1	HP:0001257	Spasticity
1786	DNMT1	HP:0007366	Atrophy/Degeneration affecting the brainstem
1786	DNMT1	HP:0002519	Hypnagogic hallucinations
1786	DNMT1	HP:0002529	Neuronal loss in central nervous system
1786	DNMT1	HP:0002524	Cataplexy
1786	DNMT1	HP:0002500	Abnormal cerebral white matter morphology
1786	DNMT1	HP:0000020	Urinary incontinence
1786	DNMT1	HP:0001347	Hyperreflexia
1786	DNMT1	HP:0000006	Autosomal dominant inheritance
1786	DNMT1	HP:0002754	Osteomyelitis
1786	DNMT1	HP:0031258	Delirium
1786	DNMT1	HP:0005978	Type II diabetes mellitus
1786	DNMT1	HP:0002059	Cerebral atrophy
1786	DNMT1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
1786	DNMT1	HP:0003487	Babinski sign
1786	DNMT1	HP:0003596	Middle age onset
1786	DNMT1	HP:0100710	Impulsivity
1786	DNMT1	HP:0003550	Predominantly lower limb lymphedema
1786	DNMT1	HP:0002200	Pseudobulbar signs
1786	DNMT1	HP:0007082	Dilated third ventricle
1786	DNMT1	HP:0003676	Progressive
1786	DNMT1	HP:0002354	Memory impairment
1786	DNMT1	HP:0002346	Head tremor
1786	DNMT1	HP:0002322	Resting tremor
1786	DNMT1	HP:0009830	Peripheral neuropathy
1786	DNMT1	HP:0000639	Nystagmus
1786	DNMT1	HP:0000648	Optic atrophy
1786	DNMT1	HP:0000763	Sensory neuropathy
1786	DNMT1	HP:0000737	Irritability
1786	DNMT1	HP:0000741	Apathy
1786	DNMT1	HP:0000716	Depression
1786	DNMT1	HP:0000726	Dementia
1786	DNMT1	HP:0000709	Psychosis
1786	DNMT1	HP:0011462	Young adult onset
1786	DNMT1	HP:0003287	Abnormality of mitochondrial metabolism
1786	DNMT1	HP:0030050	Narcolepsy
1786	DNMT1	HP:0002921	Abnormal cerebrospinal fluid morphology
1786	DNMT1	HP:0000365	Hearing impairment
1786	DNMT1	HP:0000407	Sensorineural hearing impairment
1786	DNMT1	HP:0000518	Cataract
1788	DNMT3A	HP:0025116	Fetal distress
1788	DNMT3A	HP:0008629	Pulsatile tinnitus
1788	DNMT3A	HP:0007302	Bipolar affective disorder
1788	DNMT3A	HP:0010864	Intellectual disability, severe
1788	DNMT3A	HP:0025269	Panic attack
1788	DNMT3A	HP:0001293	Cranial nerve compression
1788	DNMT3A	HP:0001256	Intellectual disability, mild
1788	DNMT3A	HP:0001250	Seizure
1788	DNMT3A	HP:0001252	Hypotonia
1788	DNMT3A	HP:0001249	Intellectual disability
1788	DNMT3A	HP:0001263	Global developmental delay
1788	DNMT3A	HP:0001230	Broad metacarpals
1788	DNMT3A	HP:0002574	Episodic abdominal pain
1788	DNMT3A	HP:0006009	Broad phalanx
1788	DNMT3A	HP:0000098	Tall stature
1788	DNMT3A	HP:0000096	Glomerular sclerosis
1788	DNMT3A	HP:0000093	Proteinuria
1788	DNMT3A	HP:0000076	Vesicoureteral reflux
1788	DNMT3A	HP:0001382	Joint hypermobility
1788	DNMT3A	HP:0000028	Cryptorchidism
1788	DNMT3A	HP:0001342	Cerebral hemorrhage
1788	DNMT3A	HP:0002668	Paraganglioma
1788	DNMT3A	HP:0001337	Tremor
1788	DNMT3A	HP:0000006	Autosomal dominant inheritance
1788	DNMT3A	HP:0002640	Hypertension associated with pheochromocytoma
1788	DNMT3A	HP:0002650	Scoliosis
1788	DNMT3A	HP:0002616	Aortic root aneurysm
1788	DNMT3A	HP:0008947	Infantile muscular hypotonia
1788	DNMT3A	HP:0031284	Flushing
1788	DNMT3A	HP:0001428	Somatic mutation
1788	DNMT3A	HP:0002751	Kyphoscoliosis
1788	DNMT3A	HP:0004684	Talipes valgus
1788	DNMT3A	HP:0002018	Nausea
1788	DNMT3A	HP:0002002	Deep philtrum
1788	DNMT3A	HP:0002000	Short columella
1788	DNMT3A	HP:0003345	Elevated urinary norepinephrine
1788	DNMT3A	HP:0011703	Sinus tachycardia
1788	DNMT3A	HP:0010499	Patellar subluxation
1788	DNMT3A	HP:0002119	Ventriculomegaly
1788	DNMT3A	HP:0010532	Paroxysmal vertigo
1788	DNMT3A	HP:0002263	Exaggerated cupid's bow
1788	DNMT3A	HP:0003577	Congenital onset
1788	DNMT3A	HP:0003574	Positive regitine blocking test
1788	DNMT3A	HP:0100749	Chest pain
1788	DNMT3A	HP:0100753	Schizophrenia
1788	DNMT3A	HP:0011979	Elevated urinary dopamine
1788	DNMT3A	HP:0003510	Severe short stature
1788	DNMT3A	HP:0003508	Proportionate short stature
1788	DNMT3A	HP:0007099	Chiari type I malformation
1788	DNMT3A	HP:0004808	Acute myeloid leukemia
1788	DNMT3A	HP:0001069	Episodic hyperhidrosis
1788	DNMT3A	HP:0002376	Developmental regression
1788	DNMT3A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
1788	DNMT3A	HP:0002342	Intellectual disability, moderate
1788	DNMT3A	HP:0002331	Recurrent paroxysmal headache
1788	DNMT3A	HP:0010803	Everted upper lip vermilion
1788	DNMT3A	HP:0001095	Hypertensive retinopathy
1788	DNMT3A	HP:0009803	Short phalanx of finger
1788	DNMT3A	HP:0100634	Neuroendocrine neoplasm
1788	DNMT3A	HP:0003639	Elevated urinary epinephrine
1788	DNMT3A	HP:0002308	Chiari malformation
1788	DNMT3A	HP:0001962	Palpitations
1788	DNMT3A	HP:0000609	Optic nerve hypoplasia
1788	DNMT3A	HP:0010049	Short metacarpal
1788	DNMT3A	HP:0004325	Decreased body weight
1788	DNMT3A	HP:0003072	Hypercalcemia
1788	DNMT3A	HP:0011407	Proportionate tall stature
1788	DNMT3A	HP:0000739	Anxiety
1788	DNMT3A	HP:0000750	Delayed speech and language development
1788	DNMT3A	HP:0000740	Episodic paroxysmal anxiety
1788	DNMT3A	HP:0000718	Aggressive behavior
1788	DNMT3A	HP:0000708	Atypical behavior
1788	DNMT3A	HP:0000790	Hematuria
1788	DNMT3A	HP:0004442	Sagittal craniosynostosis
1788	DNMT3A	HP:0000878	11 pairs of ribs
1788	DNMT3A	HP:0000980	Pallor
1788	DNMT3A	HP:0045025	Narrow palpebral fissure
1788	DNMT3A	HP:0008094	Widely spaced toes
1788	DNMT3A	HP:0008070	Sparse hair
1788	DNMT3A	HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway
1788	DNMT3A	HP:0040197	Encephalomalacia
1788	DNMT3A	HP:0000286	Epicanthus
1788	DNMT3A	HP:0000280	Coarse facial features
1788	DNMT3A	HP:0000256	Macrocephaly
1788	DNMT3A	HP:0001566	Widely-spaced maxillary central incisors
1788	DNMT3A	HP:0000252	Microcephaly
1788	DNMT3A	HP:0001548	Overgrowth
1788	DNMT3A	HP:0000233	Thin vermilion border
1788	DNMT3A	HP:0001528	Hemihypertrophy
1788	DNMT3A	HP:0001537	Umbilical hernia
1788	DNMT3A	HP:0002864	Paraganglioma of head and neck
1788	DNMT3A	HP:0001511	Intrauterine growth retardation
1788	DNMT3A	HP:0001513	Obesity
1788	DNMT3A	HP:0012378	Fatigue
1788	DNMT3A	HP:0001605	Vocal cord paralysis
1788	DNMT3A	HP:0001618	Dysphonia
1788	DNMT3A	HP:0005180	Tricuspid regurgitation
1788	DNMT3A	HP:0012324	Myeloid leukemia
1788	DNMT3A	HP:0000337	Broad forehead
1788	DNMT3A	HP:0000316	Hypertelorism
1788	DNMT3A	HP:0001643	Patent ductus arteriosus
1788	DNMT3A	HP:0000311	Round face
1788	DNMT3A	HP:0001653	Mitral regurgitation
1788	DNMT3A	HP:0001629	Ventricular septal defect
1788	DNMT3A	HP:0001635	Congestive heart failure
1788	DNMT3A	HP:0001631	Atrial septal defect
1788	DNMT3A	HP:0000303	Mandibular prognathia
1788	DNMT3A	HP:0000405	Conductive hearing impairment
1788	DNMT3A	HP:0000486	Strabismus
1788	DNMT3A	HP:0000463	Anteverted nares
1788	DNMT3A	HP:0006748	Adrenal pheochromocytoma
1788	DNMT3A	HP:0006737	Extraadrenal pheochromocytoma
1788	DNMT3A	HP:0001824	Weight loss
1788	DNMT3A	HP:0001831	Short toe
1788	DNMT3A	HP:0000581	Blepharophimosis
1788	DNMT3A	HP:0011228	Horizontal eyebrow
1788	DNMT3A	HP:0000574	Thick eyebrow
1789	DNMT3B	HP:0001249	Intellectual disability
1789	DNMT3B	HP:0001263	Global developmental delay
1789	DNMT3B	HP:0010984	Digenic inheritance
1789	DNMT3B	HP:0000007	Autosomal recessive inheritance
1789	DNMT3B	HP:0001334	Communicating hydrocephalus
1789	DNMT3B	HP:0000158	Macroglossia
1789	DNMT3B	HP:0002720	Decreased circulating IgA level
1789	DNMT3B	HP:0002721	Immunodeficiency
1789	DNMT3B	HP:0002024	Malabsorption
1789	DNMT3B	HP:0002014	Diarrhea
1789	DNMT3B	HP:0003307	Hyperlordosis
1789	DNMT3B	HP:0100540	Palpebral edema
1789	DNMT3B	HP:0002090	Pneumonia
1789	DNMT3B	HP:0003484	Upper limb muscle weakness
1789	DNMT3B	HP:0003457	EMG abnormality
1789	DNMT3B	HP:0002110	Bronchiectasis
1789	DNMT3B	HP:0003496	Increased circulating IgM level
1789	DNMT3B	HP:0003581	Adult onset
1789	DNMT3B	HP:0002205	Recurrent respiratory infections
1789	DNMT3B	HP:0010808	Protruding tongue
1789	DNMT3B	HP:0001903	Anemia
1789	DNMT3B	HP:0004322	Short stature
1789	DNMT3B	HP:0004313	Decreased circulating antibody level
1789	DNMT3B	HP:0030680	Abnormality of cardiovascular system morphology
1789	DNMT3B	HP:0003196	Short nose
1789	DNMT3B	HP:0004469	Chronic bronchitis
1789	DNMT3B	HP:0003236	Elevated circulating creatine kinase concentration
1789	DNMT3B	HP:0003220	Abnormality of chromosome stability
1789	DNMT3B	HP:0040218	Reduced natural killer cell count
1789	DNMT3B	HP:0003202	Skeletal muscle atrophy
1789	DNMT3B	HP:0008046	Abnormal retinal vascular morphology
1789	DNMT3B	HP:0000286	Epicanthus
1789	DNMT3B	HP:0000298	Mask-like facies
1789	DNMT3B	HP:0000256	Macrocephaly
1789	DNMT3B	HP:0000272	Malar flattening
1789	DNMT3B	HP:0000246	Sinusitis
1789	DNMT3B	HP:0001537	Umbilical hernia
1789	DNMT3B	HP:0001508	Failure to thrive
1789	DNMT3B	HP:0012368	Flat face
1789	DNMT3B	HP:0000369	Low-set ears
1789	DNMT3B	HP:0000347	Micrognathia
1789	DNMT3B	HP:0000316	Hypertelorism
1789	DNMT3B	HP:0030319	Weakness of facial musculature
1789	DNMT3B	HP:0000499	Abnormal eyelash morphology
1789	DNMT3B	HP:0005374	Cellular immunodeficiency
1789	DNMT3B	HP:0000407	Sensorineural hearing impairment
1789	DNMT3B	HP:0005280	Depressed nasal bridge
1789	DNMT3B	HP:0000463	Anteverted nares
1789	DNMT3B	HP:0005403	T lymphocytopenia
1789	DNMT3B	HP:0001888	Lymphopenia
1789	DNMT3B	HP:0001874	Abnormality of neutrophils
1794	DOCK2	HP:0032253	Eosinophilic granuloma
1794	DOCK2	HP:0000007	Autosomal recessive inheritance
1794	DOCK2	HP:0001403	Macrovesicular hepatic steatosis
1794	DOCK2	HP:0002028	Chronic diarrhea
1794	DOCK2	HP:0100590	Rectal fistula
1794	DOCK2	HP:0033164	Focal active colitis
1794	DOCK2	HP:0002113	Pulmonary infiltrates
1794	DOCK2	HP:0003593	Infantile onset
1794	DOCK2	HP:0002240	Hepatomegaly
1794	DOCK2	HP:0002254	Intermittent diarrhea
1794	DOCK2	HP:0011947	Respiratory tract infection
1794	DOCK2	HP:0032170	Severe varicella zoster infection
1794	DOCK2	HP:0003623	Neonatal onset
1794	DOCK2	HP:0009098	Chronic oral candidiasis
1794	DOCK2	HP:0001954	Recurrent fever
1794	DOCK2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
1794	DOCK2	HP:0031964	Elevated circulating alanine aminotransferase concentration
1794	DOCK2	HP:0031402	Reduced antigen-specific T cell proliferation
1794	DOCK2	HP:0001510	Growth delay
1794	DOCK2	HP:0006532	Recurrent pneumonia
1794	DOCK2	HP:0006515	Interstitial pneumonitis
1794	DOCK2	HP:0005387	Combined immunodeficiency
1794	DOCK2	HP:0000403	Recurrent otitis media
1794	DOCK2	HP:0005403	T lymphocytopenia
1794	DOCK2	HP:0001873	Thrombocytopenia
1795	DOCK3	HP:0001182	Tapered finger
1795	DOCK3	HP:0100807	Long fingers
1795	DOCK3	HP:0001252	Hypotonia
1795	DOCK3	HP:0001265	Hyporeflexia
1795	DOCK3	HP:0001263	Global developmental delay
1795	DOCK3	HP:0001344	Absent speech
1795	DOCK3	HP:0000007	Autosomal recessive inheritance
1795	DOCK3	HP:0001315	Reduced tendon reflexes
1795	DOCK3	HP:0002066	Gait ataxia
1795	DOCK3	HP:0003593	Infantile onset
1795	DOCK3	HP:0003502	Mild short stature
1795	DOCK3	HP:0002317	Unsteady gait
1795	DOCK3	HP:0000689	Dental malocclusion
1795	DOCK3	HP:0031936	Delayed ability to walk
1795	DOCK3	HP:0004482	Relative macrocephaly
1795	DOCK3	HP:0000286	Epicanthus
1795	DOCK3	HP:0000276	Long face
1795	DOCK3	HP:0000218	High palate
1795	DOCK3	HP:0000307	Pointed chin
1795	DOCK3	HP:0000303	Mandibular prognathia
1795	DOCK3	HP:0000494	Downslanted palpebral fissures
1795	DOCK3	HP:0000463	Anteverted nares
1798	DPAGT1	HP:0001166	Arachnodactyly
1798	DPAGT1	HP:0002460	Distal muscle weakness
1798	DPAGT1	HP:0010864	Intellectual disability, severe
1798	DPAGT1	HP:0002421	Poor head control
1798	DPAGT1	HP:0002401	Stroke-like episode
1798	DPAGT1	HP:0003701	Proximal muscle weakness
1798	DPAGT1	HP:0001290	Generalized hypotonia
1798	DPAGT1	HP:0001276	Hypertonia
1798	DPAGT1	HP:0001270	Motor delay
1798	DPAGT1	HP:0001284	Areflexia
1798	DPAGT1	HP:0001250	Seizure
1798	DPAGT1	HP:0001252	Hypotonia
1798	DPAGT1	HP:0001251	Ataxia
1798	DPAGT1	HP:0001249	Intellectual disability
1798	DPAGT1	HP:0001265	Hyporeflexia
1798	DPAGT1	HP:0001263	Global developmental delay
1798	DPAGT1	HP:0410263	Brain imaging abnormality
1798	DPAGT1	HP:0002540	Inability to walk
1798	DPAGT1	HP:0002521	Hypsarrhythmia
1798	DPAGT1	HP:0002515	Waddling gait
1798	DPAGT1	HP:0003803	Type 1 muscle fiber predominance
1798	DPAGT1	HP:0012050	Anasarca
1798	DPAGT1	HP:0001371	Flexion contracture
1798	DPAGT1	HP:0001388	Joint laxity
1798	DPAGT1	HP:0001347	Hyperreflexia
1798	DPAGT1	HP:0000028	Cryptorchidism
1798	DPAGT1	HP:0001344	Absent speech
1798	DPAGT1	HP:0000007	Autosomal recessive inheritance
1798	DPAGT1	HP:0001337	Tremor
1798	DPAGT1	HP:0002650	Scoliosis
1798	DPAGT1	HP:0001321	Cerebellar hypoplasia
1798	DPAGT1	HP:0001317	Abnormal cerebellum morphology
1798	DPAGT1	HP:0012172	Stereotypical body rocking
1798	DPAGT1	HP:0012168	Head-banging
1798	DPAGT1	HP:0008947	Infantile muscular hypotonia
1798	DPAGT1	HP:0003325	Limb-girdle muscle weakness
1798	DPAGT1	HP:0002089	Pulmonary hypoplasia
1798	DPAGT1	HP:0002093	Respiratory insufficiency
1798	DPAGT1	HP:0003394	Muscle spasm
1798	DPAGT1	HP:0003391	Gowers sign
1798	DPAGT1	HP:0002079	Hypoplasia of the corpus callosum
1798	DPAGT1	HP:0003388	Easy fatigability
1798	DPAGT1	HP:0003473	Fatigable weakness
1798	DPAGT1	HP:0002123	Generalized myoclonic seizure
1798	DPAGT1	HP:0002120	Cerebral cortical atrophy
1798	DPAGT1	HP:0003429	CNS hypomyelination
1798	DPAGT1	HP:0002104	Apnea
1798	DPAGT1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
1798	DPAGT1	HP:0002170	Intracranial hemorrhage
1798	DPAGT1	HP:0003593	Infantile onset
1798	DPAGT1	HP:0003577	Congenital onset
1798	DPAGT1	HP:0002240	Hepatomegaly
1798	DPAGT1	HP:0003551	Difficulty climbing stairs
1798	DPAGT1	HP:0004855	Reduced protein S activity
1798	DPAGT1	HP:0200134	Epileptic encephalopathy
1798	DPAGT1	HP:0002283	Global brain atrophy
1798	DPAGT1	HP:0011968	Feeding difficulties
1798	DPAGT1	HP:0010628	Facial palsy
1798	DPAGT1	HP:0003691	Scapular winging
1798	DPAGT1	HP:0002359	Frequent falls
1798	DPAGT1	HP:0002342	Intellectual disability, moderate
1798	DPAGT1	HP:0002355	Difficulty walking
1798	DPAGT1	HP:0003677	Slowly progressive
1798	DPAGT1	HP:0010845	EEG with generalized slow activity
1798	DPAGT1	HP:0001072	Thickened skin
1798	DPAGT1	HP:0010781	Skin dimple
1798	DPAGT1	HP:0003642	Type I transferrin isoform profile
1798	DPAGT1	HP:0002304	Akinesia
1798	DPAGT1	HP:0004209	Clinodactyly of the 5th finger
1798	DPAGT1	HP:0000639	Nystagmus
1798	DPAGT1	HP:0001976	Reduced antithrombin III activity
1798	DPAGT1	HP:0000648	Optic atrophy
1798	DPAGT1	HP:0001903	Anemia
1798	DPAGT1	HP:0009062	Infantile axial hypotonia
1798	DPAGT1	HP:0009046	Difficulty running
1798	DPAGT1	HP:0009028	Generalized weakness of limb muscles
1798	DPAGT1	HP:0000662	Nyctalopia
1798	DPAGT1	HP:0001989	Fetal akinesia sequence
1798	DPAGT1	HP:0003075	Hypoproteinemia
1798	DPAGT1	HP:0000750	Delayed speech and language development
1798	DPAGT1	HP:0000718	Aggressive behavior
1798	DPAGT1	HP:0000717	Autism
1798	DPAGT1	HP:0011463	Childhood onset
1798	DPAGT1	HP:0009125	Lipodystrophy
1798	DPAGT1	HP:0012758	Neurodevelopmental delay
1798	DPAGT1	HP:0003198	Myopathy
1798	DPAGT1	HP:0100301	Muscle fiber tubular inclusions
1798	DPAGT1	HP:0003186	Inverted nipples
1798	DPAGT1	HP:0003236	Elevated circulating creatine kinase concentration
1798	DPAGT1	HP:0003200	Ragged-red muscle fibers
1798	DPAGT1	HP:0000998	Hypertrichosis
1798	DPAGT1	HP:0000954	Single transverse palmar crease
1798	DPAGT1	HP:0000952	Jaundice
1798	DPAGT1	HP:0000939	Osteoporosis
1798	DPAGT1	HP:0030084	Clinodactyly
1798	DPAGT1	HP:0006380	Knee flexion contracture
1798	DPAGT1	HP:0025534	Ocular melanocytosis
1798	DPAGT1	HP:0000252	Microcephaly
1798	DPAGT1	HP:0000218	High palate
1798	DPAGT1	HP:0001558	Decreased fetal movement
1798	DPAGT1	HP:0001508	Failure to thrive
1798	DPAGT1	HP:0011097	Epileptic spasm
1798	DPAGT1	HP:0012385	Camptodactyly
1798	DPAGT1	HP:0030205	Increased jitter at single fiber EMG
1798	DPAGT1	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors
1798	DPAGT1	HP:0002938	Lumbar hyperlordosis
1798	DPAGT1	HP:0030191	Abnormal peripheral nervous system synaptic transmission
1798	DPAGT1	HP:0002910	Elevated hepatic transaminase
1798	DPAGT1	HP:0000365	Hearing impairment
1798	DPAGT1	HP:0000347	Micrognathia
1798	DPAGT1	HP:0001657	Prolonged QT interval
1798	DPAGT1	HP:0011153	Focal motor seizure
1798	DPAGT1	HP:0000483	Astigmatism
1798	DPAGT1	HP:0000486	Strabismus
1798	DPAGT1	HP:0030213	Emotional blunting
1798	DPAGT1	HP:0012469	Infantile spasms
1798	DPAGT1	HP:0001763	Pes planus
1798	DPAGT1	HP:0000518	Cataract
1798	DPAGT1	HP:0000519	Developmental cataract
1798	DPAGT1	HP:0000510	Rod-cone dystrophy
1798	DPAGT1	HP:0000508	Ptosis
1798	DPAGT1	HP:0000577	Exotropia
1798	DPAGT1	HP:0012512	Diffuse optic disc pallor
1801	DPH1	HP:0007291	Posterior fossa cyst
1801	DPH1	HP:0001274	Agenesis of corpus callosum
1801	DPH1	HP:0001250	Seizure
1801	DPH1	HP:0001249	Intellectual disability
1801	DPH1	HP:0001263	Global developmental delay
1801	DPH1	HP:0003819	Death in childhood
1801	DPH1	HP:0000093	Proteinuria
1801	DPH1	HP:0000077	Abnormality of the kidney
1801	DPH1	HP:0000023	Inguinal hernia
1801	DPH1	HP:0000007	Autosomal recessive inheritance
1801	DPH1	HP:0001305	Dandy-Walker malformation
1801	DPH1	HP:0001320	Cerebellar vermis hypoplasia
1801	DPH1	HP:0000175	Cleft palate
1801	DPH1	HP:0007598	Bilateral single transverse palmar creases
1801	DPH1	HP:0010535	Sleep apnea
1801	DPH1	HP:0003577	Congenital onset
1801	DPH1	HP:0002209	Sparse scalp hair
1801	DPH1	HP:0007018	Attention deficit hyperactivity disorder
1801	DPH1	HP:0200055	Small hand
1801	DPH1	HP:0001970	Tubulointerstitial nephritis
1801	DPH1	HP:0000695	Natal tooth
1801	DPH1	HP:0000687	Widely spaced teeth
1801	DPH1	HP:0000653	Sparse eyelashes
1801	DPH1	HP:0001999	Abnormal facial shape
1801	DPH1	HP:0004322	Short stature
1801	DPH1	HP:0000805	Enuresis
1801	DPH1	HP:0000739	Anxiety
1801	DPH1	HP:0012712	Mild hearing impairment
1801	DPH1	HP:0000790	Hematuria
1801	DPH1	HP:0004442	Sagittal craniosynostosis
1801	DPH1	HP:0030799	Scaphocephaly
1801	DPH1	HP:0004482	Relative macrocephaly
1801	DPH1	HP:0045075	Sparse eyebrow
1801	DPH1	HP:0000286	Epicanthus
1801	DPH1	HP:0000243	Trigonocephaly
1801	DPH1	HP:0000238	Hydrocephalus
1801	DPH1	HP:0000248	Brachycephaly
1801	DPH1	HP:0001522	Death in infancy
1801	DPH1	HP:0012385	Camptodactyly
1801	DPH1	HP:0000369	Low-set ears
1801	DPH1	HP:0000347	Micrognathia
1801	DPH1	HP:0001650	Aortic valve stenosis
1801	DPH1	HP:0000316	Hypertelorism
1801	DPH1	HP:0001629	Ventricular septal defect
1801	DPH1	HP:0001631	Atrial septal defect
1801	DPH1	HP:0005280	Depressed nasal bridge
1801	DPH1	HP:0000494	Downslanted palpebral fissures
1801	DPH1	HP:0001763	Pes planus
1801	DPH1	HP:0001800	Hypoplastic toenails
1801	DPH1	HP:0011220	Prominent forehead
1802	DPH2	HP:0001181	Adducted thumb
1802	DPH2	HP:0001156	Brachydactyly
1802	DPH2	HP:0009890	High anterior hairline
1802	DPH2	HP:0010862	Delayed fine motor development
1802	DPH2	HP:0001263	Global developmental delay
1802	DPH2	HP:0000034	Hydrocele testis
1802	DPH2	HP:0000007	Autosomal recessive inheritance
1802	DPH2	HP:0002194	Delayed gross motor development
1802	DPH2	HP:0003593	Infantile onset
1802	DPH2	HP:0002209	Sparse scalp hair
1802	DPH2	HP:0004322	Short stature
1802	DPH2	HP:0011623	Muscular ventricular septal defect
1802	DPH2	HP:0000954	Single transverse palmar crease
1802	DPH2	HP:0000256	Macrocephaly
1802	DPH2	HP:0000252	Microcephaly
1802	DPH2	HP:0000369	Low-set ears
1802	DPH2	HP:0012413	Notched primary central incisor
1802	DPH2	HP:0011220	Prominent forehead
1804	DPP6	HP:0001137	Alternating esotropia
1804	DPP6	HP:0001249	Intellectual disability
1804	DPP6	HP:0000006	Autosomal dominant inheritance
1804	DPP6	HP:0002650	Scoliosis
1804	DPP6	HP:0002750	Delayed skeletal maturation
1804	DPP6	HP:0003577	Congenital onset
1804	DPP6	HP:0200065	Chorioretinal degeneration
1804	DPP6	HP:0009804	Tooth agenesis
1804	DPP6	HP:0000646	Amblyopia
1804	DPP6	HP:0000666	Horizontal nystagmus
1804	DPP6	HP:0004325	Decreased body weight
1804	DPP6	HP:0004322	Short stature
1804	DPP6	HP:0000752	Hyperactivity
1804	DPP6	HP:0000252	Microcephaly
1804	DPP6	HP:0001645	Sudden cardiac death
1804	DPP6	HP:0001663	Ventricular fibrillation
1804	DPP6	HP:0006682	Premature ventricular contraction
1804	DPP6	HP:0000411	Protruding ear
1806	DPYD	HP:0001104	Macular hypoplasia
1806	DPYD	HP:0002445	Tetraplegia
1806	DPYD	HP:0100962	Shyness
1806	DPYD	HP:0001276	Hypertonia
1806	DPYD	HP:0001274	Agenesis of corpus callosum
1806	DPYD	HP:0001270	Motor delay
1806	DPYD	HP:0001284	Areflexia
1806	DPYD	HP:0001254	Lethargy
1806	DPYD	HP:0001256	Intellectual disability, mild
1806	DPYD	HP:0001250	Seizure
1806	DPYD	HP:0001252	Hypotonia
1806	DPYD	HP:0001249	Intellectual disability
1806	DPYD	HP:0001263	Global developmental delay
1806	DPYD	HP:0002540	Inability to walk
1806	DPYD	HP:0001382	Joint hypermobility
1806	DPYD	HP:0001347	Hyperreflexia
1806	DPYD	HP:0008872	Feeding difficulties in infancy
1806	DPYD	HP:0006191	Deep palmar crease
1806	DPYD	HP:0001328	Specific learning disability
1806	DPYD	HP:0002656	Epiphyseal dysplasia
1806	DPYD	HP:0001344	Absent speech
1806	DPYD	HP:0000007	Autosomal recessive inheritance
1806	DPYD	HP:0000194	Open mouth
1806	DPYD	HP:0012127	Uraciluria
1806	DPYD	HP:0000154	Wide mouth
1806	DPYD	HP:0008947	Infantile muscular hypotonia
1806	DPYD	HP:0002033	Poor suck
1806	DPYD	HP:0002002	Deep philtrum
1806	DPYD	HP:0030939	Palpebral thickening
1806	DPYD	HP:0002059	Cerebral atrophy
1806	DPYD	HP:0002187	Intellectual disability, profound
1806	DPYD	HP:0003593	Infantile onset
1806	DPYD	HP:0003577	Congenital onset
1806	DPYD	HP:0100716	Self-injurious behavior
1806	DPYD	HP:0004887	Respiratory failure requiring assisted ventilation
1806	DPYD	HP:0009748	Large earlobe
1806	DPYD	HP:0100738	Abnormal eating behavior
1806	DPYD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
1806	DPYD	HP:0002353	EEG abnormality
1806	DPYD	HP:0003654	Reduced dihydropyrimidine dehydrogenase level
1806	DPYD	HP:0010841	Multifocal epileptiform discharges
1806	DPYD	HP:0003621	Juvenile onset
1806	DPYD	HP:0006863	Severe expressive language delay
1806	DPYD	HP:0000639	Nystagmus
1806	DPYD	HP:0000648	Optic atrophy
1806	DPYD	HP:0011344	Severe global developmental delay
1806	DPYD	HP:0000684	Delayed eruption of teeth
1806	DPYD	HP:0006919	Abnormal aggressive, impulsive or violent behavior
1806	DPYD	HP:0400004	Long ear
1806	DPYD	HP:0000752	Hyperactivity
1806	DPYD	HP:0000737	Irritability
1806	DPYD	HP:0000750	Delayed speech and language development
1806	DPYD	HP:0000742	Self-mutilation
1806	DPYD	HP:0000718	Aggressive behavior
1806	DPYD	HP:0000717	Autism
1806	DPYD	HP:0000729	Autistic behavior
1806	DPYD	HP:0000708	Atypical behavior
1806	DPYD	HP:0011463	Childhood onset
1806	DPYD	HP:0003196	Short nose
1806	DPYD	HP:0030890	Hyperintensity of cerebral white matter on MRI
1806	DPYD	HP:0000278	Retrognathia
1806	DPYD	HP:0000293	Full cheeks
1806	DPYD	HP:0000256	Macrocephaly
1806	DPYD	HP:0000252	Microcephaly
1806	DPYD	HP:0000218	High palate
1806	DPYD	HP:0001508	Failure to thrive
1806	DPYD	HP:0001510	Growth delay
1806	DPYD	HP:0001513	Obesity
1806	DPYD	HP:0000347	Micrognathia
1806	DPYD	HP:0002983	Micromelia
1806	DPYD	HP:0000316	Hypertelorism
1806	DPYD	HP:0011153	Focal motor seizure
1806	DPYD	HP:0005274	Prominent nasal tip
1806	DPYD	HP:0005280	Depressed nasal bridge
1806	DPYD	HP:0000483	Astigmatism
1806	DPYD	HP:0000486	Strabismus
1806	DPYD	HP:0000482	Microcornea
1806	DPYD	HP:0000478	Abnormality of the eye
1806	DPYD	HP:0000494	Downslanted palpebral fissures
1806	DPYD	HP:0000490	Deeply set eye
1806	DPYD	HP:0000463	Anteverted nares
1806	DPYD	HP:0000455	Broad nasal tip
1806	DPYD	HP:0000470	Short neck
1806	DPYD	HP:0012433	Abnormal social behavior
1806	DPYD	HP:0001799	Short nail
1806	DPYD	HP:0000527	Long eyelashes
1806	DPYD	HP:0000504	Abnormality of vision
1806	DPYD	HP:0000582	Upslanted palpebral fissure
1806	DPYD	HP:0000589	Coloboma
1806	DPYD	HP:0011220	Prominent forehead
1806	DPYD	HP:0000568	Microphthalmia
1806	DPYD	HP:0000545	Myopia
1807	DPYS	HP:0007308	Extrapyramidal dyskinesia
1807	DPYS	HP:0007256	Abnormal pyramidal sign
1807	DPYS	HP:0001254	Lethargy
1807	DPYS	HP:0001250	Seizure
1807	DPYS	HP:0001249	Intellectual disability
1807	DPYS	HP:0001262	Excessive daytime somnolence
1807	DPYS	HP:0002500	Abnormal cerebral white matter morphology
1807	DPYS	HP:0001357	Plagiocephaly
1807	DPYS	HP:0008872	Feeding difficulties in infancy
1807	DPYS	HP:0000007	Autosomal recessive inheritance
1807	DPYS	HP:0012127	Uraciluria
1807	DPYS	HP:0002023	Anal atresia
1807	DPYS	HP:0002062	Morphological abnormality of the pyramidal tract
1807	DPYS	HP:0033139	Elevated circulating uracil concentration
1807	DPYS	HP:0034593	Elevated circulating dihydrouracil concentration
1807	DPYS	HP:0003654	Reduced dihydropyrimidine dehydrogenase level
1807	DPYS	HP:0009803	Short phalanx of finger
1807	DPYS	HP:4000095	Elevated circulating thymine concentration
1807	DPYS	HP:0001942	Metabolic acidosis
1807	DPYS	HP:0000750	Delayed speech and language development
1807	DPYS	HP:0001510	Growth delay
1807	DPYS	HP:0001762	Talipes equinovarus
1811	SLC26A3	HP:0000007	Autosomal recessive inheritance
1811	SLC26A3	HP:0034470	Elevated stool chloride content
1811	SLC26A3	HP:0003593	Infantile onset
1811	SLC26A3	HP:0200114	Metabolic alkalosis
1811	SLC26A3	HP:0032067	Elevated serum bicarbonate concentration
1811	SLC26A3	HP:0003621	Juvenile onset
1811	SLC26A3	HP:0001948	Alkalosis
1811	SLC26A3	HP:0001944	Dehydration
1811	SLC26A3	HP:0003113	Hypochloremia
1811	SLC26A3	HP:0000859	Hyperaldosteronism
1811	SLC26A3	HP:0000848	Increased circulating renin level
1811	SLC26A3	HP:0000841	Hyperactive renin-angiotensin system
1811	SLC26A3	HP:0003270	Abdominal distention
1811	SLC26A3	HP:0001561	Polyhydramnios
1811	SLC26A3	HP:0001508	Failure to thrive
1811	SLC26A3	HP:0001507	Growth abnormality
1811	SLC26A3	HP:0001510	Growth delay
1811	SLC26A3	HP:0005208	Secretory diarrhea
1811	SLC26A3	HP:0002902	Hyponatremia
1811	SLC26A3	HP:0002900	Hypokalemia
1811	SLC26A3	HP:0001622	Premature birth
1813	DRD2	HP:0025269	Panic attack
1813	DRD2	HP:0012075	Personality disorder
1813	DRD2	HP:0001332	Dystonia
1813	DRD2	HP:0001336	Myoclonus
1813	DRD2	HP:0010531	Spinal myoclonus
1813	DRD2	HP:0002356	Writer's cramp
1813	DRD2	HP:0000739	Anxiety
1813	DRD2	HP:0000716	Depression
1813	DRD2	HP:0000722	Compulsive behaviors
1813	DRD2	HP:0045084	Limb myoclonus
1813	DRD2	HP:0000473	Torticollis
1814	DRD3	HP:0001260	Dysarthria
1814	DRD3	HP:0410291	Negativism
1814	DRD3	HP:0000006	Autosomal dominant inheritance
1814	DRD3	HP:0002174	Postural tremor
1814	DRD3	HP:0100753	Schizophrenia
1814	DRD3	HP:0007086	Social and occupational deterioration
1814	DRD3	HP:0002378	Hand tremor
1814	DRD3	HP:0002345	Action tremor
1814	DRD3	HP:0003676	Progressive
1814	DRD3	HP:0002353	EEG abnormality
1814	DRD3	HP:0000738	Hallucinations
1814	DRD3	HP:0000746	Delusions
1815	DRD4	HP:0000006	Autosomal dominant inheritance
1815	DRD4	HP:0007018	Attention deficit hyperactivity disorder
1815	DRD4	HP:0000752	Hyperactivity
1816	DRD5	HP:0003745	Sporadic
1816	DRD5	HP:0000006	Autosomal dominant inheritance
1816	DRD5	HP:0003596	Middle age onset
1816	DRD5	HP:0007018	Attention deficit hyperactivity disorder
1816	DRD5	HP:0000643	Blepharospasm
1816	DRD5	HP:0000752	Hyperactivity
1822	ATN1	HP:0001152	Saccadic smooth pursuit
1822	ATN1	HP:0001138	Optic neuropathy
1822	ATN1	HP:0010880	Increased nuchal translucency
1822	ATN1	HP:0010867	Dyssynergia
1822	ATN1	HP:0003743	Genetic anticipation
1822	ATN1	HP:0001250	Seizure
1822	ATN1	HP:0001252	Hypotonia
1822	ATN1	HP:0001251	Ataxia
1822	ATN1	HP:0001249	Intellectual disability
1822	ATN1	HP:0001265	Hyporeflexia
1822	ATN1	HP:0001266	Choreoathetosis
1822	ATN1	HP:0001260	Dysarthria
1822	ATN1	HP:0001263	Global developmental delay
1822	ATN1	HP:0410263	Brain imaging abnormality
1822	ATN1	HP:0001212	Prominent fingertip pads
1822	ATN1	HP:0002540	Inability to walk
1822	ATN1	HP:0002521	Hypsarrhythmia
1822	ATN1	HP:0000089	Renal hypoplasia
1822	ATN1	HP:0012048	Oromandibular dystonia
1822	ATN1	HP:0025352	Typically de novo
1822	ATN1	HP:0001385	Hip dysplasia
1822	ATN1	HP:0001382	Joint hypermobility
1822	ATN1	HP:0000028	Cryptorchidism
1822	ATN1	HP:0001332	Dystonia
1822	ATN1	HP:0001344	Absent speech
1822	ATN1	HP:0000006	Autosomal dominant inheritance
1822	ATN1	HP:0001336	Myoclonus
1822	ATN1	HP:0001310	Dysmetria
1822	ATN1	HP:0001320	Cerebellar vermis hypoplasia
1822	ATN1	HP:0002650	Scoliosis
1822	ATN1	HP:0001300	Parkinsonism
1822	ATN1	HP:0000194	Open mouth
1822	ATN1	HP:0000175	Cleft palate
1822	ATN1	HP:0002705	High, narrow palate
1822	ATN1	HP:0000122	Unilateral renal agenesis
1822	ATN1	HP:0000126	Hydronephrosis
1822	ATN1	HP:0002020	Gastroesophageal reflux
1822	ATN1	HP:0002019	Constipation
1822	ATN1	HP:0002015	Dysphagia
1822	ATN1	HP:0100543	Cognitive impairment
1822	ATN1	HP:0002066	Gait ataxia
1822	ATN1	HP:0002078	Truncal ataxia
1822	ATN1	HP:0002079	Hypoplasia of the corpus callosum
1822	ATN1	HP:0002075	Dysdiadochokinesis
1822	ATN1	HP:0002072	Chorea
1822	ATN1	HP:0002073	Progressive cerebellar ataxia
1822	ATN1	HP:0002070	Limb ataxia
1822	ATN1	HP:0002059	Cerebral atrophy
1822	ATN1	HP:0002126	Polymicrogyria
1822	ATN1	HP:0002172	Postural instability
1822	ATN1	HP:0010557	Overlapping fingers
1822	ATN1	HP:0011833	Overhanging nasal tip
1822	ATN1	HP:0003596	Middle age onset
1822	ATN1	HP:0003577	Congenital onset
1822	ATN1	HP:0100704	Cerebral visual impairment
1822	ATN1	HP:0003584	Late onset
1822	ATN1	HP:0007047	Atrophy of the dentate nucleus
1822	ATN1	HP:0010654	Aplasia of the falx cerebri
1822	ATN1	HP:0002345	Action tremor
1822	ATN1	HP:0002354	Memory impairment
1822	ATN1	HP:0003680	Nonprogressive
1822	ATN1	HP:0010831	Impaired proprioception
1822	ATN1	HP:0009765	Low hanging columella
1822	ATN1	HP:0003621	Juvenile onset
1822	ATN1	HP:0000639	Nystagmus
1822	ATN1	HP:0000643	Blepharospasm
1822	ATN1	HP:0004305	Involuntary movements
1822	ATN1	HP:0000726	Dementia
1822	ATN1	HP:0011462	Young adult onset
1822	ATN1	HP:0003186	Inverted nipples
1822	ATN1	HP:0030890	Hyperintensity of cerebral white matter on MRI
1822	ATN1	HP:0034353	Appendicular spasticity
1822	ATN1	HP:0000286	Epicanthus
1822	ATN1	HP:0000219	Thin upper lip vermilion
1822	ATN1	HP:0001545	Anteriorly placed anus
1822	ATN1	HP:0001562	Oligohydramnios
1822	ATN1	HP:0002870	Obstructive sleep apnea
1822	ATN1	HP:0000365	Hearing impairment
1822	ATN1	HP:0000358	Posteriorly rotated ears
1822	ATN1	HP:0000369	Low-set ears
1822	ATN1	HP:0000341	Narrow forehead
1822	ATN1	HP:0000343	Long philtrum
1822	ATN1	HP:0001680	Coarctation of aorta
1822	ATN1	HP:0000348	High forehead
1822	ATN1	HP:0001655	Patent foramen ovale
1822	ATN1	HP:0001629	Ventricular septal defect
1822	ATN1	HP:0001627	Abnormal heart morphology
1822	ATN1	HP:0001631	Atrial septal defect
1822	ATN1	HP:0005301	Persistent left superior vena cava
1822	ATN1	HP:0000403	Recurrent otitis media
1822	ATN1	HP:0000490	Deeply set eye
1822	ATN1	HP:0000414	Bulbous nose
1822	ATN1	HP:0001845	Overlapping toe
1822	ATN1	HP:0000597	Ophthalmoparesis
1822	ATN1	HP:0000568	Microphthalmia
1824	DSC2	HP:0001279	Syncope
1824	DSC2	HP:0000007	Autosomal recessive inheritance
1824	DSC2	HP:0000006	Autosomal dominant inheritance
1824	DSC2	HP:0002094	Dyspnea
1824	DSC2	HP:0003596	Middle age onset
1824	DSC2	HP:0003584	Late onset
1824	DSC2	HP:0002224	Woolly hair
1824	DSC2	HP:0003621	Juvenile onset
1824	DSC2	HP:0001962	Palpitations
1824	DSC2	HP:0004308	Ventricular arrhythmia
1824	DSC2	HP:0011462	Young adult onset
1824	DSC2	HP:0000982	Palmoplantar keratoderma
1824	DSC2	HP:0011663	Right ventricular cardiomyopathy
1824	DSC2	HP:0001645	Sudden cardiac death
1825	DSC3	HP:0007502	Follicular hyperkeratosis
1825	DSC3	HP:0000007	Autosomal recessive inheritance
1825	DSC3	HP:0000164	Abnormality of the dentition
1825	DSC3	HP:0003593	Infantile onset
1825	DSC3	HP:0002215	Sparse axillary hair
1825	DSC3	HP:0002231	Sparse body hair
1825	DSC3	HP:0002209	Sparse scalp hair
1825	DSC3	HP:0025092	Epidermal acanthosis
1825	DSC3	HP:0200037	Skin vesicle
1825	DSC3	HP:0000653	Sparse eyelashes
1825	DSC3	HP:0003115	Abnormal EKG
1825	DSC3	HP:0045075	Sparse eyebrow
1825	DSC3	HP:0008070	Sparse hair
1825	DSC3	HP:0008066	Abnormal blistering of the skin
1825	DSC3	HP:0030318	Angular cheilitis
1825	DSC3	HP:0001820	Leukonychia
1828	DSG1	HP:0025114	Hypergranulosis
1828	DSG1	HP:0003765	Psoriasiform dermatitis
1828	DSG1	HP:0007446	Palmoplantar blistering
1828	DSG1	HP:0007501	Streaks of hyperkeratosis along each finger onto the palm
1828	DSG1	HP:0000007	Autosomal recessive inheritance
1828	DSG1	HP:0000006	Autosomal dominant inheritance
1828	DSG1	HP:0002205	Recurrent respiratory infections
1828	DSG1	HP:0008404	Nail dystrophy
1828	DSG1	HP:0100792	Acantholysis
1828	DSG1	HP:0001019	Erythroderma
1828	DSG1	HP:0025092	Epidermal acanthosis
1828	DSG1	HP:0025080	Orthokeratotic hyperkeratosis
1828	DSG1	HP:0011367	Yellow nails
1828	DSG1	HP:0003228	Hypernatremia
1828	DSG1	HP:0000975	Hyperhidrosis
1828	DSG1	HP:0000972	Palmoplantar hyperkeratosis
1828	DSG1	HP:0000982	Palmoplantar keratoderma
1828	DSG1	HP:0040162	Orthokeratosis
1828	DSG1	HP:0008070	Sparse hair
1828	DSG1	HP:0001595	Abnormal hair morphology
1828	DSG1	HP:0001597	Abnormality of the nail
1828	DSG1	HP:0001581	Recurrent skin infections
1828	DSG1	HP:0001510	Growth delay
1828	DSG1	HP:0001642	Pulmonic stenosis
1828	DSG1	HP:0001629	Ventricular septal defect
1828	DSG1	HP:0001806	Onycholysis
1829	DSG2	HP:0410173	Increased circulating troponin I concentration
1829	DSG2	HP:0032232	Increased circulating creatine kinase MB isoform
1829	DSG2	HP:0000007	Autosomal recessive inheritance
1829	DSG2	HP:0000006	Autosomal dominant inheritance
1829	DSG2	HP:0033755	Increased left ventricular end-diastolic volume
1829	DSG2	HP:0002094	Dyspnea
1829	DSG2	HP:0100578	Lipoatrophy
1829	DSG2	HP:0011712	Right bundle branch block
1829	DSG2	HP:0011713	Left bundle branch block
1829	DSG2	HP:0003457	EMG abnormality
1829	DSG2	HP:0004756	Ventricular tachycardia
1829	DSG2	HP:0003596	Middle age onset
1829	DSG2	HP:0003584	Late onset
1829	DSG2	HP:0003581	Adult onset
1829	DSG2	HP:0002224	Woolly hair
1829	DSG2	HP:0100749	Chest pain
1829	DSG2	HP:0003621	Juvenile onset
1829	DSG2	HP:0001962	Palpitations
1829	DSG2	HP:0012666	Severely reduced left ventricular ejection fraction
1829	DSG2	HP:0004308	Ventricular arrhythmia
1829	DSG2	HP:0011462	Young adult onset
1829	DSG2	HP:0003198	Myopathy
1829	DSG2	HP:0003236	Elevated circulating creatine kinase concentration
1829	DSG2	HP:0034304	Epsilon wave
1829	DSG2	HP:0000982	Palmoplantar keratoderma
1829	DSG2	HP:0011663	Right ventricular cardiomyopathy
1829	DSG2	HP:0012248	Prolonged PR interval
1829	DSG2	HP:0001645	Sudden cardiac death
1829	DSG2	HP:0001644	Dilated cardiomyopathy
1829	DSG2	HP:0001635	Congestive heart failure
1829	DSG2	HP:0006682	Premature ventricular contraction
1829	DSG2	HP:0000407	Sensorineural hearing impairment
1829	DSG2	HP:0001874	Abnormality of neutrophils
1830	DSG3	HP:0000007	Autosomal recessive inheritance
1830	DSG3	HP:0200097	Oral mucosal blisters
1830	DSG3	HP:0031446	Erosion of oral mucosa
1832	DSP	HP:0001159	Syndactyly
1832	DSP	HP:0025175	Honeycomb lung
1832	DSP	HP:0025179	Ground-glass opacification
1832	DSP	HP:0009884	Tapered distal phalanges of finger
1832	DSP	HP:0001279	Syncope
1832	DSP	HP:0001233	2-3 finger syndactyly
1832	DSP	HP:0007418	Alopecia totalis
1832	DSP	HP:0006097	3-4 finger syndactyly
1832	DSP	HP:0003811	Neonatal death
1832	DSP	HP:0025390	Reticular pattern on pulmonary HRCT
1832	DSP	HP:0000007	Autosomal recessive inheritance
1832	DSP	HP:0000006	Autosomal dominant inheritance
1832	DSP	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology
1832	DSP	HP:0025493	Palmoplantar erythema
1832	DSP	HP:0000164	Abnormality of the dentition
1832	DSP	HP:0000175	Cleft palate
1832	DSP	HP:0031274	Hypovolemic shock
1832	DSP	HP:0002020	Gastroesophageal reflux
1832	DSP	HP:0010444	Pulmonary insufficiency
1832	DSP	HP:0100578	Lipoatrophy
1832	DSP	HP:0003457	EMG abnormality
1832	DSP	HP:0004756	Ventricular tachycardia
1832	DSP	HP:0002110	Bronchiectasis
1832	DSP	HP:0003577	Congenital onset
1832	DSP	HP:0002223	Absent eyebrow
1832	DSP	HP:0002224	Woolly hair
1832	DSP	HP:0002206	Pulmonary fibrosis
1832	DSP	HP:0008404	Nail dystrophy
1832	DSP	HP:0010705	4-5 finger syndactyly
1832	DSP	HP:0100792	Acantholysis
1832	DSP	HP:0002289	Alopecia universalis
1832	DSP	HP:0002298	Absent hair
1832	DSP	HP:0100759	Clubbing of fingers
1832	DSP	HP:0001057	Aplasia cutis congenita
1832	DSP	HP:0001036	Parakeratosis
1832	DSP	HP:0001030	Fragile skin
1832	DSP	HP:0025092	Epidermal acanthosis
1832	DSP	HP:0009804	Tooth agenesis
1832	DSP	HP:0100613	Death in early adulthood
1832	DSP	HP:0200041	Skin erosion
1832	DSP	HP:0010783	Erythema
1832	DSP	HP:0003621	Juvenile onset
1832	DSP	HP:0004209	Clinodactyly of the 5th finger
1832	DSP	HP:0005597	Congenital alopecia totalis
1832	DSP	HP:0005588	Patchy palmoplantar hyperkeratosis
1832	DSP	HP:0000695	Natal tooth
1832	DSP	HP:0000653	Sparse eyelashes
1832	DSP	HP:0012735	Cough
1832	DSP	HP:0011463	Childhood onset
1832	DSP	HP:0011421	Death in adolescence
1832	DSP	HP:0003198	Myopathy
1832	DSP	HP:0000924	Abnormality of the skeletal system
1832	DSP	HP:0003236	Elevated circulating creatine kinase concentration
1832	DSP	HP:0030816	Gingival recession
1832	DSP	HP:0045075	Sparse eyebrow
1832	DSP	HP:0030830	Crackles
1832	DSP	HP:0000972	Palmoplantar hyperkeratosis
1832	DSP	HP:0000989	Pruritus
1832	DSP	HP:0000982	Palmoplantar keratoderma
1832	DSP	HP:0000969	Edema
1832	DSP	HP:0000962	Hyperkeratosis
1832	DSP	HP:0008094	Widely spaced toes
1832	DSP	HP:0008064	Ichthyosis
1832	DSP	HP:0008066	Abnormal blistering of the skin
1832	DSP	HP:0011663	Right ventricular cardiomyopathy
1832	DSP	HP:0001595	Abnormal hair morphology
1832	DSP	HP:0001597	Abnormality of the nail
1832	DSP	HP:0001596	Alopecia
1832	DSP	HP:0031319	Cardiomyocyte hypertrophy
1832	DSP	HP:0025524	Palmoplantar scaling skin
1832	DSP	HP:0002878	Respiratory failure
1832	DSP	HP:0002875	Exertional dyspnea
1832	DSP	HP:0001562	Oligohydramnios
1832	DSP	HP:0001508	Failure to thrive
1832	DSP	HP:0001511	Intrauterine growth retardation
1832	DSP	HP:0011039	Abnormal helix morphology
1832	DSP	HP:0000377	Abnormal pinna morphology
1832	DSP	HP:0031538	Abnormal dermoepidermal junction morphology
1832	DSP	HP:0006530	Abnormal pulmonary interstitial morphology
1832	DSP	HP:0001645	Sudden cardiac death
1832	DSP	HP:0001644	Dilated cardiomyopathy
1832	DSP	HP:0001663	Ventricular fibrillation
1832	DSP	HP:0001626	Abnormality of the cardiovascular system
1832	DSP	HP:0001640	Cardiomegaly
1832	DSP	HP:0001635	Congestive heart failure
1832	DSP	HP:0001638	Cardiomyopathy
1832	DSP	HP:0004057	Mitten deformity
1832	DSP	HP:0006682	Premature ventricular contraction
1832	DSP	HP:0006670	Impaired myocardial contractility
1832	DSP	HP:0000407	Sensorineural hearing impairment
1832	DSP	HP:0001798	Anonychia
1832	DSP	HP:0025708	Early young adult onset
1832	DSP	HP:0001852	Sandal gap
1832	DSP	HP:0001820	Leukonychia
1832	DSP	HP:0001836	Camptodactyly of toe
1832	DSP	HP:0001808	Fragile nails
1832	DSP	HP:0001802	Absent toenail
1832	DSP	HP:0001817	Absent fingernail
1832	DSP	HP:0000561	Absent eyelashes
1832	DSP	HP:0001874	Abnormality of neutrophils
1834	DSPP	HP:0003771	Pulp calcification
1834	DSPP	HP:0008619	Bilateral sensorineural hearing impairment
1834	DSPP	HP:0000006	Autosomal dominant inheritance
1834	DSPP	HP:0006286	Yellow-brown discoloration of the teeth
1834	DSPP	HP:0009722	Dental enamel pits
1834	DSPP	HP:0000694	Odontodysplasia
1834	DSPP	HP:0009102	Anterior open-bite malocclusion
1834	DSPP	HP:0000700	Periapical bone loss
1834	DSPP	HP:0000703	Dentinogenesis imperfecta
1834	DSPP	HP:0010299	Abnormal dentin morphology
1834	DSPP	HP:0005101	High-frequency hearing impairment
1834	DSPP	HP:0011060	Dentinogenesis imperfecta limited to primary teeth
1834	DSPP	HP:0000360	Tinnitus
1836	SLC26A2	HP:0001156	Brachydactyly
1836	SLC26A2	HP:0008608	Hypertrophic auricular cartilage
1836	SLC26A2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
1836	SLC26A2	HP:0025264	Stiff ankle
1836	SLC26A2	HP:0001252	Hypotonia
1836	SLC26A2	HP:0001249	Intellectual disability
1836	SLC26A2	HP:0001234	Hitchhiker thumb
1836	SLC26A2	HP:0001230	Broad metacarpals
1836	SLC26A2	HP:0008752	Laryngeal cartilage malformation
1836	SLC26A2	HP:0100864	Short femoral neck
1836	SLC26A2	HP:0006009	Broad phalanx
1836	SLC26A2	HP:0003864	Bifid humerus
1836	SLC26A2	HP:0002515	Waddling gait
1836	SLC26A2	HP:0002514	Cerebral calcification
1836	SLC26A2	HP:0003826	Stillbirth
1836	SLC26A2	HP:0031006	Acroparesthesia
1836	SLC26A2	HP:0008807	Acetabular dysplasia
1836	SLC26A2	HP:0008802	Hypoplasia of the femoral head
1836	SLC26A2	HP:0001376	Limitation of joint mobility
1836	SLC26A2	HP:0001371	Flexion contracture
1836	SLC26A2	HP:0001373	Joint dislocation
1836	SLC26A2	HP:0001385	Hip dysplasia
1836	SLC26A2	HP:0001387	Joint stiffness
1836	SLC26A2	HP:0000023	Inguinal hernia
1836	SLC26A2	HP:0001357	Plagiocephaly
1836	SLC26A2	HP:0000028	Cryptorchidism
1836	SLC26A2	HP:0008873	Disproportionate short-limb short stature
1836	SLC26A2	HP:0008848	Moderately short stature
1836	SLC26A2	HP:0008826	Dislocation of the femoral head
1836	SLC26A2	HP:0008829	Delayed femoral head ossification
1836	SLC26A2	HP:0031174	Double-layered patella
1836	SLC26A2	HP:0002656	Epiphyseal dysplasia
1836	SLC26A2	HP:0002654	Multiple epiphyseal dysplasia
1836	SLC26A2	HP:0000007	Autosomal recessive inheritance
1836	SLC26A2	HP:0002652	Skeletal dysplasia
1836	SLC26A2	HP:0002650	Scoliosis
1836	SLC26A2	HP:0002644	Abnormal pelvic girdle bone morphology
1836	SLC26A2	HP:0008921	Neonatal short-limb short stature
1836	SLC26A2	HP:0008905	Rhizomelia
1836	SLC26A2	HP:0000175	Cleft palate
1836	SLC26A2	HP:0002786	Tracheobronchomalacia
1836	SLC26A2	HP:0001440	Metatarsal synostosis
1836	SLC26A2	HP:0002751	Kyphoscoliosis
1836	SLC26A2	HP:0003365	Arthralgia of the hip
1836	SLC26A2	HP:0004664	Facial midline hemangioma
1836	SLC26A2	HP:0002007	Frontal bossing
1836	SLC26A2	HP:0003336	Abnormal enchondral ossification
1836	SLC26A2	HP:0003312	Abnormal form of the vertebral bodies
1836	SLC26A2	HP:0011800	Midface retrusion
1836	SLC26A2	HP:0100541	Femoral hernia
1836	SLC26A2	HP:0002089	Pulmonary hypoplasia
1836	SLC26A2	HP:0002093	Respiratory insufficiency
1836	SLC26A2	HP:0003370	Flat capital femoral epiphysis
1836	SLC26A2	HP:0009465	Ulnar deviation of finger
1836	SLC26A2	HP:0008110	Equinovarus deformity
1836	SLC26A2	HP:0005930	Abnormal epiphysis morphology
1836	SLC26A2	HP:0005922	Abnormal hand morphology
1836	SLC26A2	HP:0005916	Abnormal metacarpal morphology
1836	SLC26A2	HP:0009487	Ulnar deviation of the hand
1836	SLC26A2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger
1836	SLC26A2	HP:0003440	Horizontal sacrum
1836	SLC26A2	HP:0003423	Thoracolumbar kyphoscoliosis
1836	SLC26A2	HP:0003417	Coronal cleft vertebrae
1836	SLC26A2	HP:0009623	Proximal placement of thumb
1836	SLC26A2	HP:0003498	Disproportionate short stature
1836	SLC26A2	HP:0002176	Spinal cord compression
1836	SLC26A2	HP:0100490	Camptodactyly of finger
1836	SLC26A2	HP:0010582	Irregular epiphyses
1836	SLC26A2	HP:0003577	Congenital onset
1836	SLC26A2	HP:0004894	Laryngotracheal stenosis
1836	SLC26A2	HP:0002205	Recurrent respiratory infections
1836	SLC26A2	HP:0010723	Cystic lesions of the pinnae
1836	SLC26A2	HP:0009748	Large earlobe
1836	SLC26A2	HP:0100761	Visceral angiomatosis
1836	SLC26A2	HP:0003510	Severe short stature
1836	SLC26A2	HP:0001052	Nevus flammeus
1836	SLC26A2	HP:0004991	Rhizomelic arm shortening
1836	SLC26A2	HP:0009826	Limb undergrowth
1836	SLC26A2	HP:0009824	Upper limb undergrowth
1836	SLC26A2	HP:0001076	Glabellar hemangioma
1836	SLC26A2	HP:0009803	Short phalanx of finger
1836	SLC26A2	HP:0100694	Tibial torsion
1836	SLC26A2	HP:0009773	Symphalangism affecting the phalanges of the hand
1836	SLC26A2	HP:0009778	Short thumb
1836	SLC26A2	HP:0010743	Short metatarsal
1836	SLC26A2	HP:0008434	Hypoplastic cervical vertebrae
1836	SLC26A2	HP:0031878	Acromicria
1836	SLC26A2	HP:0010049	Short metacarpal
1836	SLC26A2	HP:0001999	Abnormal facial shape
1836	SLC26A2	HP:0004322	Short stature
1836	SLC26A2	HP:0005616	Accelerated skeletal maturation
1836	SLC26A2	HP:0030680	Abnormality of cardiovascular system morphology
1836	SLC26A2	HP:0003071	Flattened epiphysis
1836	SLC26A2	HP:0003088	Premature osteoarthritis
1836	SLC26A2	HP:0003031	Ulnar bowing
1836	SLC26A2	HP:0005692	Joint hyperflexibility
1836	SLC26A2	HP:0003042	Elbow dislocation
1836	SLC26A2	HP:0003016	Metaphyseal widening
1836	SLC26A2	HP:0003026	Short long bone
1836	SLC26A2	HP:0000772	Abnormal rib morphology
1836	SLC26A2	HP:0000774	Narrow chest
1836	SLC26A2	HP:0000773	Short ribs
1836	SLC26A2	HP:0005716	Lethal skeletal dysplasia
1836	SLC26A2	HP:0003196	Short nose
1836	SLC26A2	HP:0000926	Platyspondyly
1836	SLC26A2	HP:0003185	Short greater sciatic notch
1836	SLC26A2	HP:0003180	Flat acetabular roof
1836	SLC26A2	HP:0000889	Abnormal clavicle morphology
1836	SLC26A2	HP:0012810	Wide nasal base
1836	SLC26A2	HP:0100337	Bilateral cleft palate
1836	SLC26A2	HP:0003097	Short femur
1836	SLC26A2	HP:0040072	Abnormal forearm bone morphology
1836	SLC26A2	HP:0003273	Hip contracture
1836	SLC26A2	HP:0003270	Abdominal distention
1836	SLC26A2	HP:0004599	Absent or minimally ossified vertebral bodies
1836	SLC26A2	HP:0010306	Short thorax
1836	SLC26A2	HP:0000974	Hyperextensible skin
1836	SLC26A2	HP:0000969	Edema
1836	SLC26A2	HP:0000946	Hypoplastic ilia
1836	SLC26A2	HP:0000944	Abnormal metaphysis morphology
1836	SLC26A2	HP:0005819	Short middle phalanx of finger
1836	SLC26A2	HP:0009381	Short finger
1836	SLC26A2	HP:0000286	Epicanthus
1836	SLC26A2	HP:0000293	Full cheeks
1836	SLC26A2	HP:0001591	Bell-shaped thorax
1836	SLC26A2	HP:0000256	Macrocephaly
1836	SLC26A2	HP:0000272	Malar flattening
1836	SLC26A2	HP:0006429	Broad femoral neck
1836	SLC26A2	HP:0002812	Coxa vara
1836	SLC26A2	HP:0002829	Arthralgia
1836	SLC26A2	HP:0002808	Kyphosis
1836	SLC26A2	HP:0006385	Short lower limbs
1836	SLC26A2	HP:0006375	Dumbbell-shaped femur
1836	SLC26A2	HP:0006376	Limited elbow flexion
1836	SLC26A2	HP:0032649	Skewfoot
1836	SLC26A2	HP:0000219	Thin upper lip vermilion
1836	SLC26A2	HP:0000218	High palate
1836	SLC26A2	HP:0001561	Polyhydramnios
1836	SLC26A2	HP:0002857	Genu valgum
1836	SLC26A2	HP:0001522	Death in infancy
1836	SLC26A2	HP:0001537	Umbilical hernia
1836	SLC26A2	HP:0001538	Protuberant abdomen
1836	SLC26A2	HP:0001518	Small for gestational age
1836	SLC26A2	HP:0001511	Intrauterine growth retardation
1836	SLC26A2	HP:0012385	Camptodactyly
1836	SLC26A2	HP:0012368	Flat face
1836	SLC26A2	HP:0000377	Abnormal pinna morphology
1836	SLC26A2	HP:0000396	Overfolded helix
1836	SLC26A2	HP:0005257	Thoracic hypoplasia
1836	SLC26A2	HP:0001609	Hoarse voice
1836	SLC26A2	HP:0002938	Lumbar hyperlordosis
1836	SLC26A2	HP:0001602	Laryngeal stenosis
1836	SLC26A2	HP:0002947	Cervical kyphosis
1836	SLC26A2	HP:0006487	Bowing of the long bones
1836	SLC26A2	HP:0000363	Abnormal earlobe morphology
1836	SLC26A2	HP:0000365	Hearing impairment
1836	SLC26A2	HP:0000369	Low-set ears
1836	SLC26A2	HP:0000368	Low-set, posteriorly rotated ears
1836	SLC26A2	HP:0000343	Long philtrum
1836	SLC26A2	HP:0011001	Increased bone mineral density
1836	SLC26A2	HP:0002999	Patellar dislocation
1836	SLC26A2	HP:0000347	Micrognathia
1836	SLC26A2	HP:0002983	Micromelia
1836	SLC26A2	HP:0000316	Hypertelorism
1836	SLC26A2	HP:0000331	Short chin
1836	SLC26A2	HP:0002986	Radial bowing
1836	SLC26A2	HP:0002987	Elbow flexion contracture
1836	SLC26A2	HP:0001623	Breech presentation
1836	SLC26A2	HP:0032930	Lacunar halos around chondrocytes
1836	SLC26A2	HP:0030320	Increased intervertebral space
1836	SLC26A2	HP:0004037	Abnormal ulnar epiphysis morphology
1836	SLC26A2	HP:0004002	Flattened radial epiphyses
1836	SLC26A2	HP:0006646	Costal cartilage calcification
1836	SLC26A2	HP:0005280	Depressed nasal bridge
1836	SLC26A2	HP:0000476	Cystic hygroma
1836	SLC26A2	HP:0000463	Anteverted nares
1836	SLC26A2	HP:0001789	Hydrops fetalis
1836	SLC26A2	HP:0000474	Thickened nuchal skin fold
1836	SLC26A2	HP:0000470	Short neck
1836	SLC26A2	HP:0001773	Short foot
1836	SLC26A2	HP:0012427	Increased femoral anteversion
1836	SLC26A2	HP:0001769	Broad foot
1836	SLC26A2	HP:0001776	Bilateral talipes equinovarus
1836	SLC26A2	HP:0001762	Talipes equinovarus
1836	SLC26A2	HP:0030289	Flattened femoral epiphysis
1836	SLC26A2	HP:0006703	Aplasia/Hypoplasia of the lungs
1836	SLC26A2	HP:0001840	Metatarsus adductus
1836	SLC26A2	HP:0001852	Sandal gap
1836	SLC26A2	HP:0000506	Telecanthus
1836	SLC26A2	HP:0001831	Short toe
1836	SLC26A2	HP:0000592	Blue sclerae
1837	DTNA	HP:0000006	Autosomal dominant inheritance
1837	DTNA	HP:0011705	First degree atrioventricular block
1837	DTNA	HP:0003577	Congenital onset
1837	DTNA	HP:0003581	Adult onset
1837	DTNA	HP:0001962	Palpitations
1837	DTNA	HP:0004308	Ventricular arrhythmia
1837	DTNA	HP:0030682	Left ventricular noncompaction
1837	DTNA	HP:0004383	Hypoplastic left heart
1837	DTNA	HP:0011462	Young adult onset
1837	DTNA	HP:0012817	Noncompaction cardiomyopathy
1837	DTNA	HP:0011664	Left ventricular noncompaction cardiomyopathy
1837	DTNA	HP:0005110	Atrial fibrillation
1837	DTNA	HP:0031352	Chest tightness
1837	DTNA	HP:0001643	Patent ductus arteriosus
1837	DTNA	HP:0001645	Sudden cardiac death
1837	DTNA	HP:0001653	Mitral regurgitation
1837	DTNA	HP:0001629	Ventricular septal defect
1837	DTNA	HP:0001635	Congestive heart failure
1837	DTNA	HP:0001712	Left ventricular hypertrophy
1841	DTYMK	HP:0002451	Limb dystonia
1841	DTYMK	HP:0001276	Hypertonia
1841	DTYMK	HP:0001250	Seizure
1841	DTYMK	HP:0001252	Hypotonia
1841	DTYMK	HP:0001249	Intellectual disability
1841	DTYMK	HP:0001263	Global developmental delay
1841	DTYMK	HP:0001257	Spasticity
1841	DTYMK	HP:0002510	Spastic tetraplegia
1841	DTYMK	HP:0003819	Death in childhood
1841	DTYMK	HP:0000054	Micropenis
1841	DTYMK	HP:0001347	Hyperreflexia
1841	DTYMK	HP:0000028	Cryptorchidism
1841	DTYMK	HP:0000007	Autosomal recessive inheritance
1841	DTYMK	HP:0001336	Myoclonus
1841	DTYMK	HP:0003348	Hyperalaninemia
1841	DTYMK	HP:0002015	Dysphagia
1841	DTYMK	HP:0002059	Cerebral atrophy
1841	DTYMK	HP:0003487	Babinski sign
1841	DTYMK	HP:0002151	Increased serum lactate
1841	DTYMK	HP:0002133	Status epilepticus
1841	DTYMK	HP:0002169	Clonus
1841	DTYMK	HP:0002179	Opisthotonus
1841	DTYMK	HP:0002171	Gliosis
1841	DTYMK	HP:0003593	Infantile onset
1841	DTYMK	HP:0003577	Congenital onset
1841	DTYMK	HP:0100704	Cerebral visual impairment
1841	DTYMK	HP:0011968	Feeding difficulties
1841	DTYMK	HP:0002376	Developmental regression
1841	DTYMK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
1841	DTYMK	HP:0033454	Tube feeding
1841	DTYMK	HP:0004322	Short stature
1841	DTYMK	HP:0006956	Lateral ventricle dilatation
1841	DTYMK	HP:0100021	Cerebral palsy
1841	DTYMK	HP:0012704	Widened subarachnoid space
1841	DTYMK	HP:0011451	Primary microcephaly
1841	DTYMK	HP:0000293	Full cheeks
1841	DTYMK	HP:0000252	Microcephaly
1841	DTYMK	HP:0002878	Respiratory failure
1841	DTYMK	HP:0001561	Polyhydramnios
1841	DTYMK	HP:0001518	Small for gestational age
1841	DTYMK	HP:0001601	Laryngomalacia
1841	DTYMK	HP:0000341	Narrow forehead
1841	DTYMK	HP:0001623	Breech presentation
1841	DTYMK	HP:0000407	Sensorineural hearing impairment
1848	DUSP6	HP:0003782	Eunuchoid habitus
1848	DUSP6	HP:0001288	Gait disturbance
1848	DUSP6	HP:0001250	Seizure
1848	DUSP6	HP:0001252	Hypotonia
1848	DUSP6	HP:0001251	Ataxia
1848	DUSP6	HP:0001260	Dysarthria
1848	DUSP6	HP:0008734	Decreased testicular size
1848	DUSP6	HP:0008736	Hypoplasia of penis
1848	DUSP6	HP:0008724	Hypoplasia of the ovary
1848	DUSP6	HP:0000044	Hypogonadotropic hypogonadism
1848	DUSP6	HP:0000054	Micropenis
1848	DUSP6	HP:0000026	Male hypogonadism
1848	DUSP6	HP:0000028	Cryptorchidism
1848	DUSP6	HP:0000027	Azoospermia
1848	DUSP6	HP:0000002	Abnormality of body height
1848	DUSP6	HP:0001324	Muscle weakness
1848	DUSP6	HP:0000013	Hypoplasia of the uterus
1848	DUSP6	HP:0000008	Abnormal morphology of female internal genitalia
1848	DUSP6	HP:0000007	Autosomal recessive inheritance
1848	DUSP6	HP:0001335	Bimanual synkinesia
1848	DUSP6	HP:0001337	Tremor
1848	DUSP6	HP:0000006	Autosomal dominant inheritance
1848	DUSP6	HP:0002652	Skeletal dysplasia
1848	DUSP6	HP:0000164	Abnormality of the dentition
1848	DUSP6	HP:0000175	Cleft palate
1848	DUSP6	HP:0000144	Decreased fertility
1848	DUSP6	HP:0000118	Phenotypic abnormality
1848	DUSP6	HP:0000134	Female hypogonadism
1848	DUSP6	HP:0002761	Generalized joint laxity
1848	DUSP6	HP:0002757	Recurrent fractures
1848	DUSP6	HP:0000104	Renal agenesis
1848	DUSP6	HP:0002750	Delayed skeletal maturation
1848	DUSP6	HP:0008197	Absence of pubertal development
1848	DUSP6	HP:0008187	Absence of secondary sex characteristics
1848	DUSP6	HP:0010550	Paraplegia
1848	DUSP6	HP:0002215	Sparse axillary hair
1848	DUSP6	HP:0002231	Sparse body hair
1848	DUSP6	HP:0002225	Sparse pubic hair
1848	DUSP6	HP:0011961	Non-obstructive azoospermia
1848	DUSP6	HP:0008527	Congenital sensorineural hearing impairment
1848	DUSP6	HP:0009804	Tooth agenesis
1848	DUSP6	HP:0100639	Erectile dysfunction
1848	DUSP6	HP:0003621	Juvenile onset
1848	DUSP6	HP:0000639	Nystagmus
1848	DUSP6	HP:0030680	Abnormality of cardiovascular system morphology
1848	DUSP6	HP:0000802	Impotence
1848	DUSP6	HP:0004349	Reduced bone mineral density
1848	DUSP6	HP:0000771	Gynecomastia
1848	DUSP6	HP:0000739	Anxiety
1848	DUSP6	HP:0000716	Depression
1848	DUSP6	HP:0000789	Infertility
1848	DUSP6	HP:0000786	Primary amenorrhea
1848	DUSP6	HP:0004409	Hyposmia
1848	DUSP6	HP:0004408	Abnormality of the sense of smell
1848	DUSP6	HP:0003187	Breast hypoplasia
1848	DUSP6	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
1848	DUSP6	HP:0000869	Secondary amenorrhea
1848	DUSP6	HP:0000830	Anterior hypopituitarism
1848	DUSP6	HP:0000823	Delayed puberty
1848	DUSP6	HP:0000939	Osteoporosis
1848	DUSP6	HP:0000938	Osteopenia
1848	DUSP6	HP:0040171	Decreased serum testosterone concentration
1848	DUSP6	HP:0008064	Ichthyosis
1848	DUSP6	HP:0030016	Dyspareunia
1848	DUSP6	HP:0030019	Increased female libido
1848	DUSP6	HP:0001513	Obesity
1848	DUSP6	HP:0012385	Camptodactyly
1848	DUSP6	HP:0001608	Abnormality of the voice
1848	DUSP6	HP:0000365	Hearing impairment
1848	DUSP6	HP:0000316	Hypertelorism
1848	DUSP6	HP:0006610	Wide intermamillary distance
1848	DUSP6	HP:0000407	Sensorineural hearing impairment
1848	DUSP6	HP:0005280	Depressed nasal bridge
1848	DUSP6	HP:0000458	Anosmia
1848	DUSP6	HP:0001763	Pes planus
1848	DUSP6	HP:0001761	Pes cavus
1848	DUSP6	HP:0000508	Ptosis
1848	DUSP6	HP:0000505	Visual impairment
1848	DUSP6	HP:0000551	Color vision defect
1854	DUT	HP:0003764	Nevus
1854	DUT	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity
1854	DUT	HP:0000007	Autosomal recessive inheritance
1854	DUT	HP:0003593	Infantile onset
1854	DUT	HP:0100651	Type I diabetes mellitus
1854	DUT	HP:0003623	Neonatal onset
1854	DUT	HP:0003621	Juvenile onset
1854	DUT	HP:0005518	Increased mean corpuscular volume
1854	DUT	HP:0034063	Anti-islet antigen-2 antibody positivity
1854	DUT	HP:0006727	T-cell acute lymphoblastic leukemias
1854	DUT	HP:0001876	Pancytopenia
1855	DVL1	HP:0001156	Brachydactyly
1855	DVL1	HP:0009944	Partial duplication of thumb phalanx
1855	DVL1	HP:0009883	Duplication of the distal phalanx of hand
1855	DVL1	HP:0009882	Short distal phalanx of finger
1855	DVL1	HP:0001249	Intellectual disability
1855	DVL1	HP:0001263	Global developmental delay
1855	DVL1	HP:0006101	Finger syndactyly
1855	DVL1	HP:0008736	Hypoplasia of penis
1855	DVL1	HP:0009999	Partial duplication of the phalanx of hand
1855	DVL1	HP:0000064	Hypoplastic labia minora
1855	DVL1	HP:0000060	Clitoral hypoplasia
1855	DVL1	HP:0000059	Hypoplastic labia majora
1855	DVL1	HP:0000075	Renal duplication
1855	DVL1	HP:0000036	Abnormal penis morphology
1855	DVL1	HP:0000039	Epispadias
1855	DVL1	HP:0000054	Micropenis
1855	DVL1	HP:0001385	Hip dysplasia
1855	DVL1	HP:0000047	Hypospadias
1855	DVL1	HP:0000023	Inguinal hernia
1855	DVL1	HP:0002684	Thickened calvaria
1855	DVL1	HP:0000028	Cryptorchidism
1855	DVL1	HP:0001328	Specific learning disability
1855	DVL1	HP:0002673	Coxa valga
1855	DVL1	HP:0000006	Autosomal dominant inheritance
1855	DVL1	HP:0002650	Scoliosis
1855	DVL1	HP:0000189	Narrow palate
1855	DVL1	HP:0008905	Rhizomelia
1855	DVL1	HP:0000185	Cleft soft palate
1855	DVL1	HP:0000164	Abnormality of the dentition
1855	DVL1	HP:0000158	Macroglossia
1855	DVL1	HP:0000175	Cleft palate
1855	DVL1	HP:0000168	Abnormality of the gingiva
1855	DVL1	HP:0000154	Wide mouth
1855	DVL1	HP:0007665	Curly eyelashes
1855	DVL1	HP:0006335	Persistence of primary teeth
1855	DVL1	HP:0002705	High, narrow palate
1855	DVL1	HP:0000126	Hydronephrosis
1855	DVL1	HP:0002751	Kyphoscoliosis
1855	DVL1	HP:0002750	Delayed skeletal maturation
1855	DVL1	HP:0002714	Downturned corners of mouth
1855	DVL1	HP:0002007	Frontal bossing
1855	DVL1	HP:0003312	Abnormal form of the vertebral bodies
1855	DVL1	HP:0011800	Midface retrusion
1855	DVL1	HP:0100541	Femoral hernia
1855	DVL1	HP:0009466	Radial deviation of finger
1855	DVL1	HP:0002164	Nail dysplasia
1855	DVL1	HP:0100490	Camptodactyly of finger
1855	DVL1	HP:0003577	Congenital onset
1855	DVL1	HP:0008402	Ridged fingernail
1855	DVL1	HP:0100798	Fingernail dysplasia
1855	DVL1	HP:0003510	Severe short stature
1855	DVL1	HP:0001052	Nevus flammeus
1855	DVL1	HP:0008501	Median cleft lip and palate
1855	DVL1	HP:0010807	Open bite
1855	DVL1	HP:0200055	Small hand
1855	DVL1	HP:0010733	Naevus flammeus of the eyelid
1855	DVL1	HP:0004209	Clinodactyly of the 5th finger
1855	DVL1	HP:0004279	Short palm
1855	DVL1	HP:0004220	Short middle phalanx of the 5th finger
1855	DVL1	HP:0000637	Long palpebral fissure
1855	DVL1	HP:0000684	Delayed eruption of teeth
1855	DVL1	HP:0000678	Dental crowding
1855	DVL1	HP:0000674	Anodontia
1855	DVL1	HP:0000677	Oligodontia
1855	DVL1	HP:0000689	Dental malocclusion
1855	DVL1	HP:0011304	Broad thumb
1855	DVL1	HP:0000668	Hypodontia
1855	DVL1	HP:0004322	Short stature
1855	DVL1	HP:0003083	Dislocated radial head
1855	DVL1	HP:0003042	Elbow dislocation
1855	DVL1	HP:0003026	Short long bone
1855	DVL1	HP:0003027	Mesomelia
1855	DVL1	HP:0000767	Pectus excavatum
1855	DVL1	HP:0000768	Pectus carinatum
1855	DVL1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
1855	DVL1	HP:0012905	Euryblepharon
1855	DVL1	HP:0003196	Short nose
1855	DVL1	HP:0010297	Bifid tongue
1855	DVL1	HP:0010290	Short hard palate
1855	DVL1	HP:0040036	Onychogryposis of fingernail
1855	DVL1	HP:0005852	Limited elbow extension and supination
1855	DVL1	HP:0000960	Sacral dimple
1855	DVL1	HP:0000286	Epicanthus
1855	DVL1	HP:0000278	Retrognathia
1855	DVL1	HP:0001596	Alopecia
1855	DVL1	HP:0000260	Wide anterior fontanel
1855	DVL1	HP:0000256	Macrocephaly
1855	DVL1	HP:0000272	Malar flattening
1855	DVL1	HP:0002812	Coxa vara
1855	DVL1	HP:0002827	Hip dislocation
1855	DVL1	HP:0030084	Clinodactyly
1855	DVL1	HP:0000219	Thin upper lip vermilion
1855	DVL1	HP:0000218	High palate
1855	DVL1	HP:0000212	Gingival overgrowth
1855	DVL1	HP:0000200	Short lingual frenulum
1855	DVL1	HP:0001537	Umbilical hernia
1855	DVL1	HP:0000207	Triangular mouth
1855	DVL1	HP:0000202	Orofacial cleft
1855	DVL1	HP:0011069	Supernumerary tooth
1855	DVL1	HP:0012385	Camptodactyly
1855	DVL1	HP:0012368	Flat face
1855	DVL1	HP:0002937	Hemivertebrae
1855	DVL1	HP:0000365	Hearing impairment
1855	DVL1	HP:0000358	Posteriorly rotated ears
1855	DVL1	HP:0000369	Low-set ears
1855	DVL1	HP:0000343	Long philtrum
1855	DVL1	HP:0000348	High forehead
1855	DVL1	HP:0000347	Micrognathia
1855	DVL1	HP:0002983	Micromelia
1855	DVL1	HP:0000316	Hypertelorism
1855	DVL1	HP:0000322	Short philtrum
1855	DVL1	HP:0005306	Capillary hemangioma
1855	DVL1	HP:0000407	Sensorineural hearing impairment
1855	DVL1	HP:0000405	Conductive hearing impairment
1855	DVL1	HP:0001705	Right ventricular outlet tract obstruction
1855	DVL1	HP:0005280	Depressed nasal bridge
1855	DVL1	HP:0000486	Strabismus
1855	DVL1	HP:0000494	Downslanted palpebral fissures
1855	DVL1	HP:0000463	Anteverted nares
1855	DVL1	HP:0000470	Short neck
1855	DVL1	HP:0000445	Wide nose
1855	DVL1	HP:0000410	Mixed hearing impairment
1855	DVL1	HP:0000431	Wide nasal bridge
1855	DVL1	HP:0005450	Calvarial osteosclerosis
1855	DVL1	HP:0000527	Long eyelashes
1855	DVL1	HP:0000520	Proptosis
1855	DVL1	HP:0001853	Bifid distal phalanx of toe
1855	DVL1	HP:0001837	Broad toe
1855	DVL1	HP:0000508	Ptosis
1855	DVL1	HP:0000582	Upslanted palpebral fissure
1855	DVL1	HP:0000592	Blue sclerae
1855	DVL1	HP:0011220	Prominent forehead
1857	DVL3	HP:0001156	Brachydactyly
1857	DVL3	HP:0001159	Syndactyly
1857	DVL3	HP:0010954	Hypoplastic right heart
1857	DVL3	HP:0001249	Intellectual disability
1857	DVL3	HP:0001263	Global developmental delay
1857	DVL3	HP:0006101	Finger syndactyly
1857	DVL3	HP:0008736	Hypoplasia of penis
1857	DVL3	HP:0000064	Hypoplastic labia minora
1857	DVL3	HP:0000060	Clitoral hypoplasia
1857	DVL3	HP:0000059	Hypoplastic labia majora
1857	DVL3	HP:0000076	Vesicoureteral reflux
1857	DVL3	HP:0000036	Abnormal penis morphology
1857	DVL3	HP:0000039	Epispadias
1857	DVL3	HP:0000054	Micropenis
1857	DVL3	HP:0001385	Hip dysplasia
1857	DVL3	HP:0000047	Hypospadias
1857	DVL3	HP:0000023	Inguinal hernia
1857	DVL3	HP:0000028	Cryptorchidism
1857	DVL3	HP:0001328	Specific learning disability
1857	DVL3	HP:0002673	Coxa valga
1857	DVL3	HP:0000006	Autosomal dominant inheritance
1857	DVL3	HP:0002650	Scoliosis
1857	DVL3	HP:0000175	Cleft palate
1857	DVL3	HP:0000168	Abnormality of the gingiva
1857	DVL3	HP:0006349	Agenesis of permanent teeth
1857	DVL3	HP:0007665	Curly eyelashes
1857	DVL3	HP:0410030	Cleft lip
1857	DVL3	HP:0002705	High, narrow palate
1857	DVL3	HP:0002714	Downturned corners of mouth
1857	DVL3	HP:0002007	Frontal bossing
1857	DVL3	HP:0003312	Abnormal form of the vertebral bodies
1857	DVL3	HP:0011800	Midface retrusion
1857	DVL3	HP:0100541	Femoral hernia
1857	DVL3	HP:0100490	Camptodactyly of finger
1857	DVL3	HP:0008402	Ridged fingernail
1857	DVL3	HP:0100798	Fingernail dysplasia
1857	DVL3	HP:0003510	Severe short stature
1857	DVL3	HP:0008501	Median cleft lip and palate
1857	DVL3	HP:0010807	Open bite
1857	DVL3	HP:0009803	Short phalanx of finger
1857	DVL3	HP:0010733	Naevus flammeus of the eyelid
1857	DVL3	HP:0004935	Pulmonary artery atresia
1857	DVL3	HP:0004209	Clinodactyly of the 5th finger
1857	DVL3	HP:0004279	Short palm
1857	DVL3	HP:0000637	Long palpebral fissure
1857	DVL3	HP:0000674	Anodontia
1857	DVL3	HP:0000677	Oligodontia
1857	DVL3	HP:0000689	Dental malocclusion
1857	DVL3	HP:0011304	Broad thumb
1857	DVL3	HP:0000668	Hypodontia
1857	DVL3	HP:0004322	Short stature
1857	DVL3	HP:0003042	Elbow dislocation
1857	DVL3	HP:0003027	Mesomelia
1857	DVL3	HP:0000767	Pectus excavatum
1857	DVL3	HP:0000768	Pectus carinatum
1857	DVL3	HP:0005743	Avascular necrosis of the capital femoral epiphysis
1857	DVL3	HP:0012905	Euryblepharon
1857	DVL3	HP:0003196	Short nose
1857	DVL3	HP:0010297	Bifid tongue
1857	DVL3	HP:0040036	Onychogryposis of fingernail
1857	DVL3	HP:0000960	Sacral dimple
1857	DVL3	HP:0000286	Epicanthus
1857	DVL3	HP:0000278	Retrognathia
1857	DVL3	HP:0001596	Alopecia
1857	DVL3	HP:0000256	Macrocephaly
1857	DVL3	HP:0002812	Coxa vara
1857	DVL3	HP:0002827	Hip dislocation
1857	DVL3	HP:0030084	Clinodactyly
1857	DVL3	HP:0002808	Kyphosis
1857	DVL3	HP:0000212	Gingival overgrowth
1857	DVL3	HP:0001545	Anteriorly placed anus
1857	DVL3	HP:0001537	Umbilical hernia
1857	DVL3	HP:0001539	Omphalocele
1857	DVL3	HP:0000207	Triangular mouth
1857	DVL3	HP:0011069	Supernumerary tooth
1857	DVL3	HP:0012385	Camptodactyly
1857	DVL3	HP:0002937	Hemivertebrae
1857	DVL3	HP:0005180	Tricuspid regurgitation
1857	DVL3	HP:0000365	Hearing impairment
1857	DVL3	HP:0000358	Posteriorly rotated ears
1857	DVL3	HP:0000369	Low-set ears
1857	DVL3	HP:0000343	Long philtrum
1857	DVL3	HP:0000348	High forehead
1857	DVL3	HP:0000347	Micrognathia
1857	DVL3	HP:0002983	Micromelia
1857	DVL3	HP:0000316	Hypertelorism
1857	DVL3	HP:0001643	Patent ductus arteriosus
1857	DVL3	HP:0000322	Short philtrum
1857	DVL3	HP:0001655	Patent foramen ovale
1857	DVL3	HP:0001629	Ventricular septal defect
1857	DVL3	HP:0005306	Capillary hemangioma
1857	DVL3	HP:0005280	Depressed nasal bridge
1857	DVL3	HP:0000486	Strabismus
1857	DVL3	HP:0000494	Downslanted palpebral fissures
1857	DVL3	HP:0000463	Anteverted nares
1857	DVL3	HP:0000470	Short neck
1857	DVL3	HP:0000465	Webbed neck
1857	DVL3	HP:0000445	Wide nose
1857	DVL3	HP:0000431	Wide nasal bridge
1857	DVL3	HP:0000527	Long eyelashes
1857	DVL3	HP:0000520	Proptosis
1857	DVL3	HP:0000506	Telecanthus
1857	DVL3	HP:0000508	Ptosis
1857	DVL3	HP:0000582	Upslanted palpebral fissure
1857	DVL3	HP:0000592	Blue sclerae
1857	DVL3	HP:0011220	Prominent forehead
1859	DYRK1A	HP:0001182	Tapered finger
1859	DYRK1A	HP:0002465	Poor speech
1859	DYRK1A	HP:0010946	Dilatation of the renal pelvis
1859	DYRK1A	HP:0025163	Abnormality of optic chiasm morphology
1859	DYRK1A	HP:0010864	Intellectual disability, severe
1859	DYRK1A	HP:0001290	Generalized hypotonia
1859	DYRK1A	HP:0001276	Hypertonia
1859	DYRK1A	HP:0001270	Motor delay
1859	DYRK1A	HP:0001288	Gait disturbance
1859	DYRK1A	HP:0001256	Intellectual disability, mild
1859	DYRK1A	HP:0001250	Seizure
1859	DYRK1A	HP:0001251	Ataxia
1859	DYRK1A	HP:0001249	Intellectual disability
1859	DYRK1A	HP:0001263	Global developmental delay
1859	DYRK1A	HP:0410263	Brain imaging abnormality
1859	DYRK1A	HP:0000041	Chordee
1859	DYRK1A	HP:0000054	Micropenis
1859	DYRK1A	HP:0000047	Hypospadias
1859	DYRK1A	HP:0000049	Shawl scrotum
1859	DYRK1A	HP:0000023	Inguinal hernia
1859	DYRK1A	HP:0000028	Cryptorchidism
1859	DYRK1A	HP:0008872	Feeding difficulties in infancy
1859	DYRK1A	HP:0000010	Recurrent urinary tract infections
1859	DYRK1A	HP:0001344	Absent speech
1859	DYRK1A	HP:0000006	Autosomal dominant inheritance
1859	DYRK1A	HP:0002650	Scoliosis
1859	DYRK1A	HP:0000185	Cleft soft palate
1859	DYRK1A	HP:0012171	Stereotypical hand wringing
1859	DYRK1A	HP:0000179	Thick lower lip vermilion
1859	DYRK1A	HP:0000122	Unilateral renal agenesis
1859	DYRK1A	HP:0000119	Abnormality of the genitourinary system
1859	DYRK1A	HP:0000125	Pelvic kidney
1859	DYRK1A	HP:0000126	Hydronephrosis
1859	DYRK1A	HP:0000107	Renal cyst
1859	DYRK1A	HP:0002719	Recurrent infections
1859	DYRK1A	HP:0002021	Pyloric stenosis
1859	DYRK1A	HP:0002020	Gastroesophageal reflux
1859	DYRK1A	HP:0002019	Constipation
1859	DYRK1A	HP:0002033	Poor suck
1859	DYRK1A	HP:0002015	Dysphagia
1859	DYRK1A	HP:0002013	Vomiting
1859	DYRK1A	HP:0003319	Abnormality of the cervical spine
1859	DYRK1A	HP:0002069	Bilateral tonic-clonic seizure
1859	DYRK1A	HP:0002079	Hypoplasia of the corpus callosum
1859	DYRK1A	HP:0010442	Polydactyly
1859	DYRK1A	HP:0011757	Posterior pituitary hypoplasia
1859	DYRK1A	HP:0002123	Generalized myoclonic seizure
1859	DYRK1A	HP:0002120	Cerebral cortical atrophy
1859	DYRK1A	HP:0002119	Ventriculomegaly
1859	DYRK1A	HP:0002136	Broad-based gait
1859	DYRK1A	HP:0003429	CNS hypomyelination
1859	DYRK1A	HP:0011917	Short 5th toe
1859	DYRK1A	HP:0002171	Gliosis
1859	DYRK1A	HP:0011822	Broad chin
1859	DYRK1A	HP:0003593	Infantile onset
1859	DYRK1A	HP:0002269	Abnormality of neuronal migration
1859	DYRK1A	HP:0003577	Congenital onset
1859	DYRK1A	HP:0002247	Duodenal atresia
1859	DYRK1A	HP:0003561	Birth length less than 3rd percentile
1859	DYRK1A	HP:0100783	Breast aplasia
1859	DYRK1A	HP:0007018	Attention deficit hyperactivity disorder
1859	DYRK1A	HP:0011968	Feeding difficulties
1859	DYRK1A	HP:0002365	Hypoplasia of the brainstem
1859	DYRK1A	HP:0002363	Abnormal brainstem morphology
1859	DYRK1A	HP:0002360	Sleep disturbance
1859	DYRK1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
1859	DYRK1A	HP:0010819	Atonic seizure
1859	DYRK1A	HP:0002311	Incoordination
1859	DYRK1A	HP:0000646	Amblyopia
1859	DYRK1A	HP:0000612	Iris coloboma
1859	DYRK1A	HP:0000601	Hypotelorism
1859	DYRK1A	HP:0011344	Severe global developmental delay
1859	DYRK1A	HP:0000687	Widely spaced teeth
1859	DYRK1A	HP:0001999	Abnormal facial shape
1859	DYRK1A	HP:0004322	Short stature
1859	DYRK1A	HP:0000752	Hyperactivity
1859	DYRK1A	HP:0000767	Pectus excavatum
1859	DYRK1A	HP:0000739	Anxiety
1859	DYRK1A	HP:0000733	Abnormal repetitive mannerisms
1859	DYRK1A	HP:0000750	Delayed speech and language development
1859	DYRK1A	HP:0000748	Inappropriate laughter
1859	DYRK1A	HP:0000718	Aggressive behavior
1859	DYRK1A	HP:0000717	Autism
1859	DYRK1A	HP:0000729	Autistic behavior
1859	DYRK1A	HP:0000708	Atypical behavior
1859	DYRK1A	HP:0011470	Nasogastric tube feeding in infancy
1859	DYRK1A	HP:0012785	Flexion contracture of finger
1859	DYRK1A	HP:0009121	Abnormal axial skeleton morphology
1859	DYRK1A	HP:0005768	2-4 toe cutaneous syndactyly
1859	DYRK1A	HP:0003196	Short nose
1859	DYRK1A	HP:0000818	Abnormality of the endocrine system
1859	DYRK1A	HP:0000821	Hypothyroidism
1859	DYRK1A	HP:0000824	Decreased response to growth hormone stimulation test
1859	DYRK1A	HP:0040082	Happy demeanor
1859	DYRK1A	HP:0010314	Premature thelarche
1859	DYRK1A	HP:0000960	Sacral dimple
1859	DYRK1A	HP:0040188	Osteochondrosis
1859	DYRK1A	HP:0000278	Retrognathia
1859	DYRK1A	HP:0006466	Ankle flexion contracture
1859	DYRK1A	HP:0002808	Kyphosis
1859	DYRK1A	HP:0000252	Microcephaly
1859	DYRK1A	HP:0000219	Thin upper lip vermilion
1859	DYRK1A	HP:0001562	Oligohydramnios
1859	DYRK1A	HP:0001561	Polyhydramnios
1859	DYRK1A	HP:0001531	Failure to thrive in infancy
1859	DYRK1A	HP:0001508	Failure to thrive
1859	DYRK1A	HP:0001518	Small for gestational age
1859	DYRK1A	HP:0001511	Intrauterine growth retardation
1859	DYRK1A	HP:0011069	Supernumerary tooth
1859	DYRK1A	HP:0000377	Abnormal pinna morphology
1859	DYRK1A	HP:0000391	Thickened helices
1859	DYRK1A	HP:0000365	Hearing impairment
1859	DYRK1A	HP:0000341	Narrow forehead
1859	DYRK1A	HP:0000347	Micrognathia
1859	DYRK1A	HP:0001650	Aortic valve stenosis
1859	DYRK1A	HP:0000319	Smooth philtrum
1859	DYRK1A	HP:0001643	Patent ductus arteriosus
1859	DYRK1A	HP:0001659	Aortic regurgitation
1859	DYRK1A	HP:0001629	Ventricular septal defect
1859	DYRK1A	HP:0001627	Abnormal heart morphology
1859	DYRK1A	HP:0001641	Abnormal pulmonary valve morphology
1859	DYRK1A	HP:0007957	Corneal opacity
1859	DYRK1A	HP:0011171	Simple febrile seizure
1859	DYRK1A	HP:0011147	Typical absence seizure
1859	DYRK1A	HP:0000400	Macrotia
1859	DYRK1A	HP:0000483	Astigmatism
1859	DYRK1A	HP:0000486	Strabismus
1859	DYRK1A	HP:0000478	Abnormality of the eye
1859	DYRK1A	HP:0000490	Deeply set eye
1859	DYRK1A	HP:0000455	Broad nasal tip
1859	DYRK1A	HP:0001773	Short foot
1859	DYRK1A	HP:0001780	Abnormal toe morphology
1859	DYRK1A	HP:0000414	Bulbous nose
1859	DYRK1A	HP:0000411	Protruding ear
1859	DYRK1A	HP:0001760	Abnormal foot morphology
1859	DYRK1A	HP:0000430	Underdeveloped nasal alae
1859	DYRK1A	HP:0000426	Prominent nasal bridge
1859	DYRK1A	HP:0000518	Cataract
1859	DYRK1A	HP:0001822	Hallux valgus
1859	DYRK1A	HP:0000504	Abnormality of vision
1859	DYRK1A	HP:0001831	Short toe
1859	DYRK1A	HP:0000582	Upslanted palpebral fissure
1859	DYRK1A	HP:0000577	Exotropia
1859	DYRK1A	HP:0000565	Esotropia
1859	DYRK1A	HP:0000541	Retinal detachment
1859	DYRK1A	HP:0000540	Hypermetropia
1859	DYRK1A	HP:0000543	Optic disc pallor
1859	DYRK1A	HP:0000545	Myopia
1861	TOR1A	HP:0001188	Hand clenching
1861	TOR1A	HP:0001181	Adducted thumb
1861	TOR1A	HP:0007325	Generalized dystonia
1861	TOR1A	HP:0010864	Intellectual disability, severe
1861	TOR1A	HP:0025269	Panic attack
1861	TOR1A	HP:0001290	Generalized hypotonia
1861	TOR1A	HP:0001276	Hypertonia
1861	TOR1A	HP:0001272	Cerebellar atrophy
1861	TOR1A	HP:0001270	Motor delay
1861	TOR1A	HP:0001288	Gait disturbance
1861	TOR1A	HP:0001252	Hypotonia
1861	TOR1A	HP:0001260	Dysarthria
1861	TOR1A	HP:0001263	Global developmental delay
1861	TOR1A	HP:0002540	Inability to walk
1861	TOR1A	HP:0002533	Abnormal posturing
1861	TOR1A	HP:0003829	Typified by incomplete penetrance
1861	TOR1A	HP:0012075	Personality disorder
1861	TOR1A	HP:0012048	Oromandibular dystonia
1861	TOR1A	HP:0001371	Flexion contracture
1861	TOR1A	HP:0000023	Inguinal hernia
1861	TOR1A	HP:0001347	Hyperreflexia
1861	TOR1A	HP:0001332	Dystonia
1861	TOR1A	HP:0001344	Absent speech
1861	TOR1A	HP:0000007	Autosomal recessive inheritance
1861	TOR1A	HP:0001337	Tremor
1861	TOR1A	HP:0000006	Autosomal dominant inheritance
1861	TOR1A	HP:0001336	Myoclonus
1861	TOR1A	HP:0001304	Torsion dystonia
1861	TOR1A	HP:0002650	Scoliosis
1861	TOR1A	HP:0002643	Neonatal respiratory distress
1861	TOR1A	HP:0002751	Kyphoscoliosis
1861	TOR1A	HP:0002015	Dysphagia
1861	TOR1A	HP:0003307	Hyperlordosis
1861	TOR1A	HP:0002091	Restrictive ventilatory defect
1861	TOR1A	HP:0003487	Babinski sign
1861	TOR1A	HP:0003438	Absent Achilles reflex
1861	TOR1A	HP:0010531	Spinal myoclonus
1861	TOR1A	HP:0010501	Limitation of knee mobility
1861	TOR1A	HP:0003596	Middle age onset
1861	TOR1A	HP:0010628	Facial palsy
1861	TOR1A	HP:0002378	Hand tremor
1861	TOR1A	HP:0002342	Intellectual disability, moderate
1861	TOR1A	HP:0002356	Writer's cramp
1861	TOR1A	HP:0100678	Premature skin wrinkling
1861	TOR1A	HP:0003623	Neonatal onset
1861	TOR1A	HP:0002304	Akinesia
1861	TOR1A	HP:0000643	Blepharospasm
1861	TOR1A	HP:0001927	Acanthocytosis
1861	TOR1A	HP:0003011	Abnormality of the musculature
1861	TOR1A	HP:0100022	Abnormality of movement
1861	TOR1A	HP:0000739	Anxiety
1861	TOR1A	HP:0000750	Delayed speech and language development
1861	TOR1A	HP:0000716	Depression
1861	TOR1A	HP:0000722	Compulsive behaviors
1861	TOR1A	HP:0011471	Gastrostomy tube feeding in infancy
1861	TOR1A	HP:0004447	Poikilocytosis
1861	TOR1A	HP:0000878	11 pairs of ribs
1861	TOR1A	HP:0045084	Limb myoclonus
1861	TOR1A	HP:0008081	Pes valgus
1861	TOR1A	HP:0000269	Prominent occiput
1861	TOR1A	HP:0002827	Hip dislocation
1861	TOR1A	HP:0002828	Multiple joint contractures
1861	TOR1A	HP:0002808	Kyphosis
1861	TOR1A	HP:0002804	Arthrogryposis multiplex congenita
1861	TOR1A	HP:0000252	Microcephaly
1861	TOR1A	HP:0001561	Polyhydramnios
1861	TOR1A	HP:0001558	Decreased fetal movement
1861	TOR1A	HP:0001522	Death in infancy
1861	TOR1A	HP:0001537	Umbilical hernia
1861	TOR1A	HP:0001511	Intrauterine growth retardation
1861	TOR1A	HP:0001510	Growth delay
1861	TOR1A	HP:0012385	Camptodactyly
1861	TOR1A	HP:0000395	Prominent antihelix
1861	TOR1A	HP:0001608	Abnormality of the voice
1861	TOR1A	HP:0001695	Cardiac arrest
1861	TOR1A	HP:0000343	Long philtrum
1861	TOR1A	HP:0000347	Micrognathia
1861	TOR1A	HP:0000311	Round face
1861	TOR1A	HP:0002987	Elbow flexion contracture
1861	TOR1A	HP:0000400	Macrotia
1861	TOR1A	HP:0005272	Prominent nasolabial fold
1861	TOR1A	HP:0000486	Strabismus
1861	TOR1A	HP:0000463	Anteverted nares
1861	TOR1A	HP:0000473	Torticollis
1861	TOR1A	HP:0000470	Short neck
1861	TOR1A	HP:0001765	Hammertoe
1861	TOR1A	HP:0012408	Medullary nephrocalcinosis
1861	TOR1A	HP:0001762	Talipes equinovarus
1861	TOR1A	HP:0000431	Wide nasal bridge
1861	TOR1A	HP:0001838	Rocker bottom foot
1861	TOR1A	HP:0000508	Ptosis
1861	TOR1A	HP:0000582	Upslanted palpebral fissure
1861	TOR1A	HP:0001897	Normocytic anemia
1861	TOR1A	HP:0000543	Optic disc pallor
1889	ECE1	HP:0001182	Tapered finger
1889	ECE1	HP:0001181	Adducted thumb
1889	ECE1	HP:0100806	Sepsis
1889	ECE1	HP:0001249	Intellectual disability
1889	ECE1	HP:0001371	Flexion contracture
1889	ECE1	HP:0000054	Micropenis
1889	ECE1	HP:0000006	Autosomal dominant inheritance
1889	ECE1	HP:0001426	Multifactorial inheritance
1889	ECE1	HP:0002019	Constipation
1889	ECE1	HP:0002017	Nausea and vomiting
1889	ECE1	HP:0002027	Abdominal pain
1889	ECE1	HP:0002014	Diarrhea
1889	ECE1	HP:0002133	Status epilepticus
1889	ECE1	HP:0009626	Interphalangeal thumb joint contracture
1889	ECE1	HP:0003577	Congenital onset
1889	ECE1	HP:0002251	Aganglionic megacolon
1889	ECE1	HP:0200008	Intestinal polyposis
1889	ECE1	HP:0004972	Elevated mean arterial pressure
1889	ECE1	HP:0004322	Short stature
1889	ECE1	HP:0100031	Neoplasm of the thyroid gland
1889	ECE1	HP:0012719	Functional abnormality of the gastrointestinal tract
1889	ECE1	HP:0000713	Agitation
1889	ECE1	HP:0004421	Elevated systolic blood pressure
1889	ECE1	HP:0003196	Short nose
1889	ECE1	HP:0000822	Hypertension
1889	ECE1	HP:0005117	Elevated diastolic blood pressure
1889	ECE1	HP:0001531	Failure to thrive in infancy
1889	ECE1	HP:0000378	Cupped ear
1889	ECE1	HP:0005214	Intestinal obstruction
1889	ECE1	HP:0000358	Posteriorly rotated ears
1889	ECE1	HP:0012332	Abnormal autonomic nervous system physiology
1889	ECE1	HP:0001649	Tachycardia
1889	ECE1	HP:0001643	Patent ductus arteriosus
1889	ECE1	HP:0001629	Ventricular septal defect
1889	ECE1	HP:0001631	Atrial septal defect
1889	ECE1	HP:0000407	Sensorineural hearing impairment
1889	ECE1	HP:0001795	Hyperconvex nail
1889	ECE1	HP:0000414	Bulbous nose
1889	ECE1	HP:0000426	Prominent nasal bridge
1889	ECE1	HP:0001824	Weight loss
1890	TYMP	HP:0001155	Abnormality of the hand
1890	TYMP	HP:0002460	Distal muscle weakness
1890	TYMP	HP:0025149	Atrophic muscularis propria
1890	TYMP	HP:0003737	Mitochondrial myopathy
1890	TYMP	HP:0001284	Areflexia
1890	TYMP	HP:0002579	Gastrointestinal dysmotility
1890	TYMP	HP:0001249	Intellectual disability
1890	TYMP	HP:0002578	Gastroparesis
1890	TYMP	HP:0002522	Areflexia of lower limbs
1890	TYMP	HP:0002500	Abnormal cerebral white matter morphology
1890	TYMP	HP:0001394	Cirrhosis
1890	TYMP	HP:0000044	Hypogonadotropic hypogonadism
1890	TYMP	HP:0000007	Autosomal recessive inheritance
1890	TYMP	HP:0033748	Hypoesthesia
1890	TYMP	HP:0025461	Abnormal cell morphology
1890	TYMP	HP:0033842	Early satiety
1890	TYMP	HP:0012103	Abnormality of the mitochondrion
1890	TYMP	HP:0001403	Macrovesicular hepatic steatosis
1890	TYMP	HP:0002024	Malabsorption
1890	TYMP	HP:0002020	Gastroesophageal reflux
1890	TYMP	HP:0002018	Nausea
1890	TYMP	HP:0002019	Constipation
1890	TYMP	HP:0003348	Hyperalaninemia
1890	TYMP	HP:0002027	Abdominal pain
1890	TYMP	HP:0002014	Diarrhea
1890	TYMP	HP:0002015	Dysphagia
1890	TYMP	HP:0002013	Vomiting
1890	TYMP	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
1890	TYMP	HP:0003388	Easy fatigability
1890	TYMP	HP:0003477	Peripheral axonal neuropathy
1890	TYMP	HP:0003448	Decreased sensory nerve conduction velocity
1890	TYMP	HP:0003431	Decreased motor nerve conduction velocity
1890	TYMP	HP:0003401	Paresthesia
1890	TYMP	HP:0002254	Intermittent diarrhea
1890	TYMP	HP:0002253	Colonic diverticula
1890	TYMP	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
1890	TYMP	HP:0003693	Distal amyotrophy
1890	TYMP	HP:0003688	Cytochrome C oxidase-negative muscle fibers
1890	TYMP	HP:0003689	Multiple mitochondrial DNA deletions
1890	TYMP	HP:0003676	Progressive
1890	TYMP	HP:0002352	Leukoencephalopathy
1890	TYMP	HP:0009830	Peripheral neuropathy
1890	TYMP	HP:0100613	Death in early adulthood
1890	TYMP	HP:0007141	Sensorimotor neuropathy
1890	TYMP	HP:0032155	Abdominal cramps
1890	TYMP	HP:0007103	Hypointensity of cerebral white matter on MRI
1890	TYMP	HP:0007108	Demyelinating peripheral neuropathy
1890	TYMP	HP:0003621	Juvenile onset
1890	TYMP	HP:0000651	Diplopia
1890	TYMP	HP:0001903	Anemia
1890	TYMP	HP:0009027	Foot dorsiflexor weakness
1890	TYMP	HP:0004326	Cachexia
1890	TYMP	HP:0004389	Intestinal pseudo-obstruction
1890	TYMP	HP:0004396	Poor appetite
1890	TYMP	HP:0004395	Malnutrition
1890	TYMP	HP:0000726	Dementia
1890	TYMP	HP:0003199	Decreased muscle mass
1890	TYMP	HP:0034276	Elevated circulating thymidine concentration
1890	TYMP	HP:0034277	Elevated circulating deoxyuridine concentration
1890	TYMP	HP:0003128	Lactic acidosis
1890	TYMP	HP:0012850	Small intestinal dysmotility
1890	TYMP	HP:0000815	Hypergonadotropic hypogonadism
1890	TYMP	HP:0003200	Ragged-red muscle fibers
1890	TYMP	HP:0003270	Abdominal distention
1890	TYMP	HP:0008049	Abnormality of the extraocular muscles
1890	TYMP	HP:0001533	Slender build
1890	TYMP	HP:0031368	Intestinal perforation
1890	TYMP	HP:0002936	Distal sensory impairment
1890	TYMP	HP:0002910	Elevated hepatic transaminase
1890	TYMP	HP:0002922	Increased CSF protein concentration
1890	TYMP	HP:0011024	Abnormality of the gastrointestinal tract
1890	TYMP	HP:0030143	Hyperactive bowel sounds
1890	TYMP	HP:0000407	Sensorineural hearing impairment
1890	TYMP	HP:0001824	Weight loss
1890	TYMP	HP:0000508	Ptosis
1890	TYMP	HP:0000597	Ophthalmoparesis
1890	TYMP	HP:0000590	Progressive external ophthalmoplegia
1890	TYMP	HP:0012533	Allodynia
1890	TYMP	HP:0000544	External ophthalmoplegia
1892	ECHS1	HP:0002490	Increased CSF lactate
1892	ECHS1	HP:0010864	Intellectual disability, severe
1892	ECHS1	HP:0002415	Leukodystrophy
1892	ECHS1	HP:0001290	Generalized hypotonia
1892	ECHS1	HP:0001250	Seizure
1892	ECHS1	HP:0001252	Hypotonia
1892	ECHS1	HP:0001260	Dysarthria
1892	ECHS1	HP:0001263	Global developmental delay
1892	ECHS1	HP:0001257	Spasticity
1892	ECHS1	HP:0007366	Atrophy/Degeneration affecting the brainstem
1892	ECHS1	HP:0001347	Hyperreflexia
1892	ECHS1	HP:0001332	Dystonia
1892	ECHS1	HP:0033725	Thin corpus callosum
1892	ECHS1	HP:0000007	Autosomal recessive inheritance
1892	ECHS1	HP:0008972	Decreased activity of mitochondrial respiratory chain
1892	ECHS1	HP:0002033	Poor suck
1892	ECHS1	HP:0002073	Progressive cerebellar ataxia
1892	ECHS1	HP:0002151	Increased serum lactate
1892	ECHS1	HP:0002104	Apnea
1892	ECHS1	HP:0010544	Vertical nystagmus
1892	ECHS1	HP:0003577	Congenital onset
1892	ECHS1	HP:0007020	Progressive spastic paraplegia
1892	ECHS1	HP:0011968	Feeding difficulties
1892	ECHS1	HP:0009830	Peripheral neuropathy
1892	ECHS1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
1892	ECHS1	HP:0000639	Nystagmus
1892	ECHS1	HP:0000648	Optic atrophy
1892	ECHS1	HP:0001941	Acidosis
1892	ECHS1	HP:0000602	Ophthalmoplegia
1892	ECHS1	HP:0001903	Anemia
1892	ECHS1	HP:0011344	Severe global developmental delay
1892	ECHS1	HP:0100022	Abnormality of movement
1892	ECHS1	HP:0012707	Elevated brain lactate level by MRS
1892	ECHS1	HP:0000712	Emotional lability
1892	ECHS1	HP:0000998	Hypertrichosis
1892	ECHS1	HP:0002878	Respiratory failure
1892	ECHS1	HP:0001522	Death in infancy
1892	ECHS1	HP:0001508	Failure to thrive
1892	ECHS1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
1892	ECHS1	HP:0000365	Hearing impairment
1892	ECHS1	HP:0001662	Bradycardia
1892	ECHS1	HP:0001629	Ventricular septal defect
1892	ECHS1	HP:0001639	Hypertrophic cardiomyopathy
1892	ECHS1	HP:0000486	Strabismus
1892	ECHS1	HP:0012444	Brain atrophy
1892	ECHS1	HP:0000508	Ptosis
1892	ECHS1	HP:0000580	Pigmentary retinopathy
1893	ECM1	HP:0001250	Seizure
1893	ECM1	HP:0002514	Cerebral calcification
1893	ECM1	HP:0001332	Dystonia
1893	ECM1	HP:0000007	Autosomal recessive inheritance
1893	ECM1	HP:0000179	Thick lower lip vermilion
1893	ECM1	HP:0000199	Tongue nodules
1893	ECM1	HP:0000171	Microglossia
1893	ECM1	HP:0000168	Abnormality of the gingiva
1893	ECM1	HP:0001482	Subcutaneous nodule
1893	ECM1	HP:0002015	Dysphagia
1893	ECM1	HP:0100582	Nasal polyposis
1893	ECM1	HP:0002121	Generalized non-motor (absence) seizure
1893	ECM1	HP:0011830	Abnormal oral mucosa morphology
1893	ECM1	HP:0003593	Infantile onset
1893	ECM1	HP:0003577	Congenital onset
1893	ECM1	HP:0002232	Patchy alopecia
1893	ECM1	HP:0002205	Recurrent respiratory infections
1893	ECM1	HP:0002293	Alopecia of scalp
1893	ECM1	HP:0011999	Paranoia
1893	ECM1	HP:0001061	Acne
1893	ECM1	HP:0002354	Memory impairment
1893	ECM1	HP:0200035	Skin plaque
1893	ECM1	HP:0200034	Papule
1893	ECM1	HP:0200039	Pustule
1893	ECM1	HP:0001072	Thickened skin
1893	ECM1	HP:0200043	Verrucae
1893	ECM1	HP:0200041	Skin erosion
1893	ECM1	HP:0100699	Scarring
1893	ECM1	HP:0005671	Bilateral intracerebral calcifications
1893	ECM1	HP:0000738	Hallucinations
1893	ECM1	HP:0000718	Aggressive behavior
1893	ECM1	HP:0011463	Childhood onset
1893	ECM1	HP:0034293	Temporal lobe calcification
1893	ECM1	HP:0000962	Hyperkeratosis
1893	ECM1	HP:0008066	Abnormal blistering of the skin
1893	ECM1	HP:0000218	High palate
1893	ECM1	HP:0001609	Hoarse voice
1896	EDA	HP:0001106	Periorbital hyperpigmentation
1896	EDA	HP:0009882	Short distal phalanx of finger
1896	EDA	HP:0002561	Absent nipple
1896	EDA	HP:0002557	Hypoplastic nipples
1896	EDA	HP:0007411	Hypoplastic-absent sebaceous glands
1896	EDA	HP:0100840	Aplasia/Hypoplasia of the eyebrow
1896	EDA	HP:0006342	Peg-shaped maxillary lateral incisors
1896	EDA	HP:0006344	Abnormality of primary molar morphology
1896	EDA	HP:0006336	Short dental root
1896	EDA	HP:0007607	Hypohidrotic ectodermal dysplasia
1896	EDA	HP:0006297	Enamel hypoplasia
1896	EDA	HP:0006289	Agenesis of central incisor
1896	EDA	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands
1896	EDA	HP:0001423	X-linked dominant inheritance
1896	EDA	HP:0001419	X-linked recessive inheritance
1896	EDA	HP:0002019	Constipation
1896	EDA	HP:0002007	Frontal bossing
1896	EDA	HP:0002098	Respiratory distress
1896	EDA	HP:0002046	Heat intolerance
1896	EDA	HP:0011830	Abnormal oral mucosa morphology
1896	EDA	HP:0003593	Infantile onset
1896	EDA	HP:0002223	Absent eyebrow
1896	EDA	HP:0002231	Sparse body hair
1896	EDA	HP:0002213	Fine hair
1896	EDA	HP:0200153	Agenesis of lateral incisor
1896	EDA	HP:0002299	Brittle hair
1896	EDA	HP:0010667	Aplasia of the maxilla
1896	EDA	HP:0011947	Respiratory tract infection
1896	EDA	HP:0100651	Type I diabetes mellitus
1896	EDA	HP:0010803	Everted upper lip vermilion
1896	EDA	HP:0009804	Tooth agenesis
1896	EDA	HP:0001945	Fever
1896	EDA	HP:0000607	Periorbital wrinkles
1896	EDA	HP:0000696	Delayed eruption of permanent teeth
1896	EDA	HP:0000698	Conical tooth
1896	EDA	HP:0000684	Delayed eruption of teeth
1896	EDA	HP:0000679	Taurodontia
1896	EDA	HP:0000674	Anodontia
1896	EDA	HP:0000677	Oligodontia
1896	EDA	HP:0000691	Microdontia
1896	EDA	HP:0000690	Agenesis of maxillary lateral incisor
1896	EDA	HP:0000689	Dental malocclusion
1896	EDA	HP:0000685	Hypoplasia of teeth
1896	EDA	HP:0000687	Widely spaced teeth
1896	EDA	HP:0000653	Sparse eyelashes
1896	EDA	HP:0000668	Hypodontia
1896	EDA	HP:0003196	Short nose
1896	EDA	HP:0000830	Anterior hypopituitarism
1896	EDA	HP:0000822	Hypertension
1896	EDA	HP:0045075	Sparse eyebrow
1896	EDA	HP:0000977	Soft skin
1896	EDA	HP:0000958	Dry skin
1896	EDA	HP:0000970	Anhidrosis
1896	EDA	HP:0000964	Eczema
1896	EDA	HP:0000966	Hypohidrosis
1896	EDA	HP:0000963	Thin skin
1896	EDA	HP:0008070	Sparse hair
1896	EDA	HP:0001592	Selective tooth agenesis
1896	EDA	HP:0001598	Concave nail
1896	EDA	HP:0000232	Everted lower lip vermilion
1896	EDA	HP:0000202	Orofacial cleft
1896	EDA	HP:0011078	Abnormality of canine
1896	EDA	HP:0011053	Agenesis of mandibular premolar
1896	EDA	HP:0011051	Agenesis of premolar
1896	EDA	HP:0011056	Agenesis of first permanent molar tooth
1896	EDA	HP:0011054	Agenesis of molar
1896	EDA	HP:0012384	Rhinitis
1896	EDA	HP:0005216	Impaired mastication
1896	EDA	HP:0001609	Hoarse voice
1896	EDA	HP:0001618	Dysphonia
1896	EDA	HP:0006482	Abnormality of dental morphology
1896	EDA	HP:0000336	Prominent supraorbital ridges
1896	EDA	HP:0000331	Short chin
1896	EDA	HP:0000327	Hypoplasia of the maxilla
1896	EDA	HP:0005280	Depressed nasal bridge
1896	EDA	HP:0012471	Thick vermilion border
1896	EDA	HP:0012472	Eclabion
1896	EDA	HP:0000457	Depressed nasal ridge
1896	EDA	HP:0000430	Underdeveloped nasal alae
1896	EDA	HP:0000561	Absent eyelashes
1896	EDA	HP:0011219	Short face
1896	EDA	HP:0011220	Prominent forehead
1906	EDN1	HP:0009902	Cleft helix
1906	EDN1	HP:0008572	External ear malformation
1906	EDN1	HP:0009895	Abnormality of the crus of the helix
1906	EDN1	HP:0025267	Snoring
1906	EDN1	HP:0001290	Generalized hypotonia
1906	EDN1	HP:0001263	Global developmental delay
1906	EDN1	HP:0008772	Aplasia/Hypoplasia of the external ear
1906	EDN1	HP:0008751	Laryngeal cleft
1906	EDN1	HP:0000007	Autosomal recessive inheritance
1906	EDN1	HP:0000006	Autosomal dominant inheritance
1906	EDN1	HP:0000183	Difficulty in tongue movements
1906	EDN1	HP:0000193	Bifid uvula
1906	EDN1	HP:0000160	Narrow mouth
1906	EDN1	HP:0000162	Glossoptosis
1906	EDN1	HP:0000175	Cleft palate
1906	EDN1	HP:0000171	Microglossia
1906	EDN1	HP:0007627	Mandibular condyle aplasia
1906	EDN1	HP:0007628	Mandibular condyle hypoplasia
1906	EDN1	HP:0011802	Hamartoma of tongue
1906	EDN1	HP:0002098	Respiratory distress
1906	EDN1	HP:0003577	Congenital onset
1906	EDN1	HP:0011968	Feeding difficulties
1906	EDN1	HP:0008513	Bilateral conductive hearing impairment
1906	EDN1	HP:0010754	Abnormality of the temporomandibular joint
1906	EDN1	HP:0000678	Dental crowding
1906	EDN1	HP:0000689	Dental malocclusion
1906	EDN1	HP:0000656	Ectropion
1906	EDN1	HP:0030713	Vein of Galen aneurysmal malformation
1906	EDN1	HP:0100277	Periauricular skin pits
1906	EDN1	HP:0000278	Retrognathia
1906	EDN1	HP:0000293	Full cheeks
1906	EDN1	HP:0000256	Macrocephaly
1906	EDN1	HP:0002870	Obstructive sleep apnea
1906	EDN1	HP:0030022	Question mark ear
1906	EDN1	HP:0000384	Preauricular skin tag
1906	EDN1	HP:0000377	Abnormal pinna morphology
1906	EDN1	HP:0000365	Hearing impairment
1906	EDN1	HP:0000364	Hearing abnormality
1906	EDN1	HP:0000368	Low-set, posteriorly rotated ears
1906	EDN1	HP:0000347	Micrognathia
1906	EDN1	HP:0000324	Facial asymmetry
1906	EDN1	HP:0000402	Stenosis of the external auditory canal
1906	EDN1	HP:0000508	Ptosis
1908	EDN3	HP:0001181	Adducted thumb
1908	EDN3	HP:0001103	Abnormal macular morphology
1908	EDN3	HP:0001100	Heterochromia iridis
1908	EDN3	HP:0100806	Sepsis
1908	EDN3	HP:0001250	Seizure
1908	EDN3	HP:0001252	Hypotonia
1908	EDN3	HP:0001249	Intellectual disability
1908	EDN3	HP:0001341	Olfactory lobe agenesis
1908	EDN3	HP:0000007	Autosomal recessive inheritance
1908	EDN3	HP:0000006	Autosomal dominant inheritance
1908	EDN3	HP:0002019	Constipation
1908	EDN3	HP:0002017	Nausea and vomiting
1908	EDN3	HP:0002027	Abdominal pain
1908	EDN3	HP:0002014	Diarrhea
1908	EDN3	HP:0100543	Cognitive impairment
1908	EDN3	HP:0002093	Respiratory insufficiency
1908	EDN3	HP:0002270	Abnormality of the autonomic nervous system
1908	EDN3	HP:0003577	Congenital onset
1908	EDN3	HP:0002242	Abnormal intestine morphology
1908	EDN3	HP:0002251	Aganglionic megacolon
1908	EDN3	HP:0002216	Premature graying of hair
1908	EDN3	HP:0002227	White eyelashes
1908	EDN3	HP:0002226	White eyebrow
1908	EDN3	HP:0002211	White forelock
1908	EDN3	HP:0001053	Hypopigmented skin patches
1908	EDN3	HP:0200008	Intestinal polyposis
1908	EDN3	HP:0005599	Hypopigmentation of hair
1908	EDN3	HP:0000635	Blue irides
1908	EDN3	HP:0000664	Synophrys
1908	EDN3	HP:0004322	Short stature
1908	EDN3	HP:0003005	Ganglioneuroma
1908	EDN3	HP:0003006	Neuroblastoma
1908	EDN3	HP:0100006	Neoplasm of the central nervous system
1908	EDN3	HP:0100031	Neoplasm of the thyroid gland
1908	EDN3	HP:0012719	Functional abnormality of the gastrointestinal tract
1908	EDN3	HP:0007703	Abnormality of retinal pigmentation
1908	EDN3	HP:0001531	Failure to thrive in infancy
1908	EDN3	HP:0005214	Intestinal obstruction
1908	EDN3	HP:0000365	Hearing impairment
1908	EDN3	HP:0000366	Abnormality of the nose
1908	EDN3	HP:0000407	Sensorineural hearing impairment
1908	EDN3	HP:0000478	Abnormality of the eye
1908	EDN3	HP:0000431	Wide nasal bridge
1908	EDN3	HP:0000430	Underdeveloped nasal alae
1908	EDN3	HP:0000426	Prominent nasal bridge
1908	EDN3	HP:0006747	Ganglioneuroblastoma
1908	EDN3	HP:0001824	Weight loss
1908	EDN3	HP:0000506	Telecanthus
1908	EDN3	HP:0000504	Abnormality of vision
1908	EDN3	HP:0000534	Abnormal eyebrow morphology
1909	EDNRA	HP:0032261	Nontuberculous mycobacterial pulmonary infection
1909	EDNRA	HP:0008551	Microtia
1909	EDNRA	HP:0002570	Steatorrhea
1909	EDNRA	HP:0032342	Reduced forced expiratory volume in one second
1909	EDNRA	HP:0001392	Abnormality of the liver
1909	EDNRA	HP:0001394	Cirrhosis
1909	EDNRA	HP:0000072	Hydroureter
1909	EDNRA	HP:0000006	Autosomal dominant inheritance
1909	EDNRA	HP:0000162	Glossoptosis
1909	EDNRA	HP:0000175	Cleft palate
1909	EDNRA	HP:0002726	Recurrent Staphylococcus aureus infections
1909	EDNRA	HP:0002724	Recurrent Aspergillus infections
1909	EDNRA	HP:0002024	Malabsorption
1909	EDNRA	HP:0002020	Gastroesophageal reflux
1909	EDNRA	HP:0002018	Nausea
1909	EDNRA	HP:0002035	Rectal prolapse
1909	EDNRA	HP:0002013	Vomiting
1909	EDNRA	HP:0002083	Migraine without aura
1909	EDNRA	HP:0002099	Asthma
1909	EDNRA	HP:0002077	Migraine with aura
1909	EDNRA	HP:0100582	Nasal polyposis
1909	EDNRA	HP:0002110	Bronchiectasis
1909	EDNRA	HP:0002107	Pneumothorax
1909	EDNRA	HP:0002105	Hemoptysis
1909	EDNRA	HP:0002183	Phonophobia
1909	EDNRA	HP:0003577	Congenital onset
1909	EDNRA	HP:0002205	Recurrent respiratory infections
1909	EDNRA	HP:0000613	Photophobia
1909	EDNRA	HP:0000680	Delayed eruption of primary teeth
1909	EDNRA	HP:0000678	Dental crowding
1909	EDNRA	HP:0000653	Sparse eyelashes
1909	EDNRA	HP:0000652	Lower eyelid coloboma
1909	EDNRA	HP:0000739	Anxiety
1909	EDNRA	HP:0000716	Depression
1909	EDNRA	HP:0000787	Nephrolithiasis
1909	EDNRA	HP:0004401	Meconium ileus
1909	EDNRA	HP:0004467	Preauricular pit
1909	EDNRA	HP:0012873	Absent vas deferens
1909	EDNRA	HP:0045082	Decreased body mass index
1909	EDNRA	HP:0000939	Osteoporosis
1909	EDNRA	HP:0000938	Osteopenia
1909	EDNRA	HP:0001596	Alopecia
1909	EDNRA	HP:0012236	Elevated sweat chloride
1909	EDNRA	HP:0000246	Sinusitis
1909	EDNRA	HP:0000232	Everted lower lip vermilion
1909	EDNRA	HP:0000211	Trismus
1909	EDNRA	HP:0001508	Failure to thrive
1909	EDNRA	HP:0002842	Recurrent Burkholderia cepacia infections
1909	EDNRA	HP:0000384	Preauricular skin tag
1909	EDNRA	HP:0000378	Cupped ear
1909	EDNRA	HP:0006536	Airway obstruction
1909	EDNRA	HP:0002910	Elevated hepatic transaminase
1909	EDNRA	HP:0000365	Hearing impairment
1909	EDNRA	HP:0000369	Low-set ears
1909	EDNRA	HP:0000347	Micrognathia
1909	EDNRA	HP:0001647	Bicuspid aortic valve
1909	EDNRA	HP:0000327	Hypoplasia of the maxilla
1909	EDNRA	HP:0000324	Facial asymmetry
1909	EDNRA	HP:0005376	Recurrent Haemophilus influenzae infections
1909	EDNRA	HP:0005321	Mandibulofacial dysostosis
1909	EDNRA	HP:0001738	Exocrine pancreatic insufficiency
1909	EDNRA	HP:0000405	Conductive hearing impairment
1909	EDNRA	HP:0000402	Stenosis of the external auditory canal
1909	EDNRA	HP:0000411	Protruding ear
1909	EDNRA	HP:0000431	Wide nasal bridge
1910	EDNRB	HP:0001181	Adducted thumb
1910	EDNRB	HP:0001103	Abnormal macular morphology
1910	EDNRB	HP:0002415	Leukodystrophy
1910	EDNRB	HP:0001100	Heterochromia iridis
1910	EDNRB	HP:0100806	Sepsis
1910	EDNRB	HP:0001271	Polyneuropathy
1910	EDNRB	HP:0001252	Hypotonia
1910	EDNRB	HP:0001251	Ataxia
1910	EDNRB	HP:0001249	Intellectual disability
1910	EDNRB	HP:0001263	Global developmental delay
1910	EDNRB	HP:0003811	Neonatal death
1910	EDNRB	HP:0000077	Abnormality of the kidney
1910	EDNRB	HP:0001341	Olfactory lobe agenesis
1910	EDNRB	HP:0000007	Autosomal recessive inheritance
1910	EDNRB	HP:0000006	Autosomal dominant inheritance
1910	EDNRB	HP:0002019	Constipation
1910	EDNRB	HP:0002017	Nausea and vomiting
1910	EDNRB	HP:0002027	Abdominal pain
1910	EDNRB	HP:0002014	Diarrhea
1910	EDNRB	HP:0003577	Congenital onset
1910	EDNRB	HP:0002242	Abnormal intestine morphology
1910	EDNRB	HP:0002251	Aganglionic megacolon
1910	EDNRB	HP:0002216	Premature graying of hair
1910	EDNRB	HP:0002227	White eyelashes
1910	EDNRB	HP:0002226	White eyebrow
1910	EDNRB	HP:0002211	White forelock
1910	EDNRB	HP:0001053	Hypopigmented skin patches
1910	EDNRB	HP:0001022	Albinism
1910	EDNRB	HP:0002313	Spastic paraparesis
1910	EDNRB	HP:0200008	Intestinal polyposis
1910	EDNRB	HP:0005599	Hypopigmentation of hair
1910	EDNRB	HP:0000639	Nystagmus
1910	EDNRB	HP:0000635	Blue irides
1910	EDNRB	HP:0001901	Polycythemia
1910	EDNRB	HP:0000664	Synophrys
1910	EDNRB	HP:0004322	Short stature
1910	EDNRB	HP:0006958	Abnormal auditory evoked potentials
1910	EDNRB	HP:0100031	Neoplasm of the thyroid gland
1910	EDNRB	HP:0012719	Functional abnormality of the gastrointestinal tract
1910	EDNRB	HP:0004414	Abnormality of the pulmonary artery
1910	EDNRB	HP:0007703	Abnormality of retinal pigmentation
1910	EDNRB	HP:0001531	Failure to thrive in infancy
1910	EDNRB	HP:0001520	Large for gestational age
1910	EDNRB	HP:0005241	Total intestinal aganglionosis
1910	EDNRB	HP:0007894	Hypopigmentation of the fundus
1910	EDNRB	HP:0005214	Intestinal obstruction
1910	EDNRB	HP:0000365	Hearing impairment
1910	EDNRB	HP:0000366	Abnormality of the nose
1910	EDNRB	HP:0000407	Sensorineural hearing impairment
1910	EDNRB	HP:0000478	Abnormality of the eye
1910	EDNRB	HP:0000431	Wide nasal bridge
1910	EDNRB	HP:0000430	Underdeveloped nasal alae
1910	EDNRB	HP:0000426	Prominent nasal bridge
1910	EDNRB	HP:0001824	Weight loss
1910	EDNRB	HP:0000506	Telecanthus
1910	EDNRB	HP:0000508	Ptosis
1910	EDNRB	HP:0000504	Abnormality of vision
1910	EDNRB	HP:0000534	Abnormal eyebrow morphology
1911	PHC1	HP:0010864	Intellectual disability, severe
1911	PHC1	HP:0001274	Agenesis of corpus callosum
1911	PHC1	HP:0001263	Global developmental delay
1911	PHC1	HP:0007333	Hypoplasia of the frontal lobes
1911	PHC1	HP:0000076	Vesicoureteral reflux
1911	PHC1	HP:0001347	Hyperreflexia
1911	PHC1	HP:0000007	Autosomal recessive inheritance
1911	PHC1	HP:0001302	Pachygyria
1911	PHC1	HP:0000122	Unilateral renal agenesis
1911	PHC1	HP:0002119	Ventriculomegaly
1911	PHC1	HP:0002282	Gray matter heterotopia
1911	PHC1	HP:0004322	Short stature
1911	PHC1	HP:0003103	Abnormal cortical bone morphology
1911	PHC1	HP:0000252	Microcephaly
1911	PHC1	HP:0000219	Thin upper lip vermilion
1911	PHC1	HP:0001510	Growth delay
1911	PHC1	HP:0000340	Sloping forehead
1911	PHC1	HP:0000582	Upslanted palpebral fissure
1917	EEF1A2	HP:0010864	Intellectual disability, severe
1917	EEF1A2	HP:0002421	Poor head control
1917	EEF1A2	HP:0003763	Bruxism
1917	EEF1A2	HP:0001298	Encephalopathy
1917	EEF1A2	HP:0001290	Generalized hypotonia
1917	EEF1A2	HP:0001273	Abnormal corpus callosum morphology
1917	EEF1A2	HP:0001268	Mental deterioration
1917	EEF1A2	HP:0001250	Seizure
1917	EEF1A2	HP:0001252	Hypotonia
1917	EEF1A2	HP:0001251	Ataxia
1917	EEF1A2	HP:0001249	Intellectual disability
1917	EEF1A2	HP:0001265	Hyporeflexia
1917	EEF1A2	HP:0001263	Global developmental delay
1917	EEF1A2	HP:0001257	Spasticity
1917	EEF1A2	HP:0002521	Hypsarrhythmia
1917	EEF1A2	HP:0002509	Limb hypertonia
1917	EEF1A2	HP:0001344	Absent speech
1917	EEF1A2	HP:0001337	Tremor
1917	EEF1A2	HP:0000006	Autosomal dominant inheritance
1917	EEF1A2	HP:0001336	Myoclonus
1917	EEF1A2	HP:0001319	Neonatal hypotonia
1917	EEF1A2	HP:0001315	Reduced tendon reflexes
1917	EEF1A2	HP:0012167	Hair-pulling
1917	EEF1A2	HP:0008935	Generalized neonatal hypotonia
1917	EEF1A2	HP:0002714	Downturned corners of mouth
1917	EEF1A2	HP:0002020	Gastroesophageal reflux
1917	EEF1A2	HP:0002069	Bilateral tonic-clonic seizure
1917	EEF1A2	HP:0002063	Rigidity
1917	EEF1A2	HP:0002059	Cerebral atrophy
1917	EEF1A2	HP:0002133	Status epilepticus
1917	EEF1A2	HP:0003593	Infantile onset
1917	EEF1A2	HP:0003577	Congenital onset
1917	EEF1A2	HP:0100710	Impulsivity
1917	EEF1A2	HP:0100716	Self-injurious behavior
1917	EEF1A2	HP:0200134	Epileptic encephalopathy
1917	EEF1A2	HP:0007018	Attention deficit hyperactivity disorder
1917	EEF1A2	HP:0011968	Feeding difficulties
1917	EEF1A2	HP:0002360	Sleep disturbance
1917	EEF1A2	HP:0002376	Developmental regression
1917	EEF1A2	HP:0002355	Difficulty walking
1917	EEF1A2	HP:0002317	Unsteady gait
1917	EEF1A2	HP:0010844	EEG with multifocal slow activity
1917	EEF1A2	HP:0100660	Dyskinesia
1917	EEF1A2	HP:0010818	Generalized tonic seizure
1917	EEF1A2	HP:0010804	Tented upper lip vermilion
1917	EEF1A2	HP:0003623	Neonatal onset
1917	EEF1A2	HP:0002311	Incoordination
1917	EEF1A2	HP:0000639	Nystagmus
1917	EEF1A2	HP:0000648	Optic atrophy
1917	EEF1A2	HP:0000668	Hypodontia
1917	EEF1A2	HP:0004322	Short stature
1917	EEF1A2	HP:0004305	Involuntary movements
1917	EEF1A2	HP:0011412	Ventouse delivery
1917	EEF1A2	HP:0000750	Delayed speech and language development
1917	EEF1A2	HP:0000718	Aggressive behavior
1917	EEF1A2	HP:0000717	Autism
1917	EEF1A2	HP:0000729	Autistic behavior
1917	EEF1A2	HP:0000708	Atypical behavior
1917	EEF1A2	HP:0011443	Abnormality of coordination
1917	EEF1A2	HP:0000286	Epicanthus
1917	EEF1A2	HP:0000293	Full cheeks
1917	EEF1A2	HP:0000252	Microcephaly
1917	EEF1A2	HP:0000218	High palate
1917	EEF1A2	HP:0000232	Everted lower lip vermilion
1917	EEF1A2	HP:0001558	Decreased fetal movement
1917	EEF1A2	HP:0001508	Failure to thrive
1917	EEF1A2	HP:0011097	Epileptic spasm
1917	EEF1A2	HP:0000369	Low-set ears
1917	EEF1A2	HP:0000348	High forehead
1917	EEF1A2	HP:0032794	Myoclonic seizure
1917	EEF1A2	HP:0011147	Typical absence seizure
1917	EEF1A2	HP:0005280	Depressed nasal bridge
1917	EEF1A2	HP:0012469	Infantile spasms
1917	EEF1A2	HP:0000494	Downslanted palpebral fissures
1917	EEF1A2	HP:0000490	Deeply set eye
1917	EEF1A2	HP:0012444	Brain atrophy
1917	EEF1A2	HP:0012447	Abnormal myelination
1917	EEF1A2	HP:0001762	Talipes equinovarus
1917	EEF1A2	HP:0005484	Secondary microcephaly
1917	EEF1A2	HP:0000508	Ptosis
1917	EEF1A2	HP:0000504	Abnormality of vision
1917	EEF1A2	HP:0012547	Abnormal involuntary eye movements
1917	EEF1A2	HP:0000546	Retinal degeneration
1938	EEF2	HP:0001151	Impaired horizontal smooth pursuit
1938	EEF2	HP:0007240	Progressive gait ataxia
1938	EEF2	HP:0001272	Cerebellar atrophy
1938	EEF2	HP:0001250	Seizure
1938	EEF2	HP:0001260	Dysarthria
1938	EEF2	HP:0000006	Autosomal dominant inheritance
1938	EEF2	HP:0002066	Gait ataxia
1938	EEF2	HP:0002078	Truncal ataxia
1938	EEF2	HP:0002073	Progressive cerebellar ataxia
1938	EEF2	HP:0002070	Limb ataxia
1938	EEF2	HP:0003474	Somatic sensory dysfunction
1938	EEF2	HP:0003470	Paralysis
1938	EEF2	HP:0003487	Babinski sign
1938	EEF2	HP:0003581	Adult onset
1938	EEF2	HP:0007034	Generalized hyperreflexia
1938	EEF2	HP:0002380	Fasciculations
1938	EEF2	HP:0003677	Slowly progressive
1938	EEF2	HP:0002311	Incoordination
1938	EEF2	HP:0000639	Nystagmus
1938	EEF2	HP:0000641	Dysmetric saccades
1947	EFNB1	HP:0001156	Brachydactyly
1947	EFNB1	HP:0001161	Hand polydactyly
1947	EFNB1	HP:0001290	Generalized hypotonia
1947	EFNB1	HP:0001274	Agenesis of corpus callosum
1947	EFNB1	HP:0001252	Hypotonia
1947	EFNB1	HP:0001249	Intellectual disability
1947	EFNB1	HP:0001263	Global developmental delay
1947	EFNB1	HP:0006101	Finger syndactyly
1947	EFNB1	HP:0001388	Joint laxity
1947	EFNB1	HP:0000047	Hypospadias
1947	EFNB1	HP:0000049	Shawl scrotum
1947	EFNB1	HP:0001363	Craniosynostosis
1947	EFNB1	HP:0001357	Plagiocephaly
1947	EFNB1	HP:0000028	Cryptorchidism
1947	EFNB1	HP:0002650	Scoliosis
1947	EFNB1	HP:0000164	Abnormality of the dentition
1947	EFNB1	HP:0000175	Cleft palate
1947	EFNB1	HP:0001423	X-linked dominant inheritance
1947	EFNB1	HP:0002007	Frontal bossing
1947	EFNB1	HP:0002079	Hypoplasia of the corpus callosum
1947	EFNB1	HP:0002162	Low posterior hairline
1947	EFNB1	HP:0100490	Camptodactyly of finger
1947	EFNB1	HP:0002224	Woolly hair
1947	EFNB1	HP:0010719	Abnormality of hair texture
1947	EFNB1	HP:0008402	Ridged fingernail
1947	EFNB1	HP:0001060	Axillary pterygium
1947	EFNB1	HP:0200021	Down-sloping shoulders
1947	EFNB1	HP:0200053	Hemihypotrophy of lower limb
1947	EFNB1	HP:0004209	Clinodactyly of the 5th finger
1947	EFNB1	HP:0010059	Broad hallux phalanx
1947	EFNB1	HP:0000639	Nystagmus
1947	EFNB1	HP:0010055	Broad hallux
1947	EFNB1	HP:0004322	Short stature
1947	EFNB1	HP:0005692	Joint hyperflexibility
1947	EFNB1	HP:0000767	Pectus excavatum
1947	EFNB1	HP:0000776	Congenital diaphragmatic hernia
1947	EFNB1	HP:0004440	Coronal craniosynostosis
1947	EFNB1	HP:0000912	Sprengel anomaly
1947	EFNB1	HP:0003187	Breast hypoplasia
1947	EFNB1	HP:0000889	Abnormal clavicle morphology
1947	EFNB1	HP:0012813	Unilateral breast hypoplasia
1947	EFNB1	HP:0000252	Microcephaly
1947	EFNB1	HP:0000248	Brachycephaly
1947	EFNB1	HP:0001547	Abnormal rib cage morphology
1947	EFNB1	HP:0000218	High palate
1947	EFNB1	HP:0001537	Umbilical hernia
1947	EFNB1	HP:0000202	Orofacial cleft
1947	EFNB1	HP:0000204	Cleft upper lip
1947	EFNB1	HP:0006585	Congenital pseudoarthrosis of the clavicle
1947	EFNB1	HP:0000349	Widow's peak
1947	EFNB1	HP:0000316	Hypertelorism
1947	EFNB1	HP:0000324	Facial asymmetry
1947	EFNB1	HP:0000407	Sensorineural hearing impairment
1947	EFNB1	HP:0005278	Hypoplastic nasal tip
1947	EFNB1	HP:0000494	Downslanted palpebral fissures
1947	EFNB1	HP:0000457	Depressed nasal ridge
1947	EFNB1	HP:0000456	Bifid nasal tip
1947	EFNB1	HP:0000474	Thickened nuchal skin fold
1947	EFNB1	HP:0000470	Short neck
1947	EFNB1	HP:0001770	Toe syndactyly
1947	EFNB1	HP:0000431	Wide nasal bridge
1947	EFNB1	HP:0006709	Aplasia/Hypoplasia of the nipples
1947	EFNB1	HP:0004122	Midline defect of the nose
1947	EFNB1	HP:0001852	Sandal gap
1947	EFNB1	HP:0000506	Telecanthus
1947	EFNB1	HP:0001809	Split nail
1947	EFNB1	HP:0001808	Fragile nails
1947	EFNB1	HP:0001807	Ridged nail
1947	EFNB1	HP:0000577	Exotropia
1950	EGF	HP:0001250	Seizure
1950	EGF	HP:0001263	Global developmental delay
1950	EGF	HP:0000007	Autosomal recessive inheritance
1950	EGF	HP:0002342	Intellectual disability, moderate
1950	EGF	HP:0002917	Hypomagnesemia
1954	MEGF8	HP:0001156	Brachydactyly
1954	MEGF8	HP:0001162	Postaxial hand polydactyly
1954	MEGF8	HP:0001159	Syndactyly
1954	MEGF8	HP:0009933	Narrow naris
1954	MEGF8	HP:0009891	Underdeveloped supraorbital ridges
1954	MEGF8	HP:0001252	Hypotonia
1954	MEGF8	HP:0001249	Intellectual disability
1954	MEGF8	HP:0001263	Global developmental delay
1954	MEGF8	HP:0001234	Hitchhiker thumb
1954	MEGF8	HP:0002557	Hypoplastic nipples
1954	MEGF8	HP:0002558	Supernumerary nipple
1954	MEGF8	HP:0006101	Finger syndactyly
1954	MEGF8	HP:0008689	Bilateral cryptorchidism
1954	MEGF8	HP:0002553	Highly arched eyebrow
1954	MEGF8	HP:0000054	Micropenis
1954	MEGF8	HP:0000049	Shawl scrotum
1954	MEGF8	HP:0002676	Cloverleaf skull
1954	MEGF8	HP:0001363	Craniosynostosis
1954	MEGF8	HP:0000028	Cryptorchidism
1954	MEGF8	HP:0006136	Bilateral postaxial polydactyly
1954	MEGF8	HP:0000007	Autosomal recessive inheritance
1954	MEGF8	HP:0000189	Narrow palate
1954	MEGF8	HP:0007651	Ectropion of lower eyelids
1954	MEGF8	HP:0002705	High, narrow palate
1954	MEGF8	HP:0002751	Kyphoscoliosis
1954	MEGF8	HP:0002007	Frontal bossing
1954	MEGF8	HP:0011800	Midface retrusion
1954	MEGF8	HP:0010442	Polydactyly
1954	MEGF8	HP:0002121	Generalized non-motor (absence) seizure
1954	MEGF8	HP:0011927	Short digit
1954	MEGF8	HP:0010554	Cutaneous finger syndactyly
1954	MEGF8	HP:0003577	Congenital onset
1954	MEGF8	HP:0004209	Clinodactyly of the 5th finger
1954	MEGF8	HP:0000689	Dental malocclusion
1954	MEGF8	HP:0000670	Carious teeth
1954	MEGF8	HP:0011304	Broad thumb
1954	MEGF8	HP:0030680	Abnormality of cardiovascular system morphology
1954	MEGF8	HP:0031936	Delayed ability to walk
1954	MEGF8	HP:0000767	Pectus excavatum
1954	MEGF8	HP:0000768	Pectus carinatum
1954	MEGF8	HP:0009110	Diaphragmatic eventration
1954	MEGF8	HP:0000929	Abnormal skull morphology
1954	MEGF8	HP:0010239	Aplasia of the middle phalanx of the hand
1954	MEGF8	HP:0003241	External genital hypoplasia
1954	MEGF8	HP:0045075	Sparse eyebrow
1954	MEGF8	HP:0100259	Postaxial polydactyly
1954	MEGF8	HP:0100258	Preaxial polydactyly
1954	MEGF8	HP:0000973	Cutis laxa
1954	MEGF8	HP:0000954	Single transverse palmar crease
1954	MEGF8	HP:0000286	Epicanthus
1954	MEGF8	HP:0000278	Retrognathia
1954	MEGF8	HP:0000294	Low anterior hairline
1954	MEGF8	HP:0000263	Oxycephaly
1954	MEGF8	HP:0000262	Turricephaly
1954	MEGF8	HP:0012243	Abnormal reproductive system morphology
1954	MEGF8	HP:0002812	Coxa vara
1954	MEGF8	HP:0006380	Knee flexion contracture
1954	MEGF8	HP:0000243	Trigonocephaly
1954	MEGF8	HP:0000248	Brachycephaly
1954	MEGF8	HP:0000218	High palate
1954	MEGF8	HP:0002857	Genu valgum
1954	MEGF8	HP:0001537	Umbilical hernia
1954	MEGF8	HP:0001513	Obesity
1954	MEGF8	HP:0012385	Camptodactyly
1954	MEGF8	HP:0005180	Tricuspid regurgitation
1954	MEGF8	HP:0001696	Situs inversus totalis
1954	MEGF8	HP:0000358	Posteriorly rotated ears
1954	MEGF8	HP:0000369	Low-set ears
1954	MEGF8	HP:0000343	Long philtrum
1954	MEGF8	HP:0001669	Transposition of the great arteries
1954	MEGF8	HP:0001651	Dextrocardia
1954	MEGF8	HP:0000316	Hypertelorism
1954	MEGF8	HP:0001643	Patent ductus arteriosus
1954	MEGF8	HP:0001631	Atrial septal defect
1954	MEGF8	HP:0006610	Wide intermamillary distance
1954	MEGF8	HP:0000407	Sensorineural hearing impairment
1954	MEGF8	HP:0005280	Depressed nasal bridge
1954	MEGF8	HP:0000481	Abnormal cornea morphology
1954	MEGF8	HP:0000463	Anteverted nares
1954	MEGF8	HP:0000475	Broad neck
1954	MEGF8	HP:0000470	Short neck
1954	MEGF8	HP:0000465	Webbed neck
1954	MEGF8	HP:0001770	Toe syndactyly
1954	MEGF8	HP:0001748	Polysplenia
1954	MEGF8	HP:0000411	Protruding ear
1954	MEGF8	HP:0001762	Talipes equinovarus
1954	MEGF8	HP:0000431	Wide nasal bridge
1954	MEGF8	HP:0001841	Preaxial foot polydactyly
1954	MEGF8	HP:0000582	Upslanted palpebral fissure
1954	MEGF8	HP:0000579	Nasolacrimal duct obstruction
1954	MEGF8	HP:0000592	Blue sclerae
1954	MEGF8	HP:0011220	Prominent forehead
1956	EGFR	HP:0003765	Psoriasiform dermatitis
1956	EGFR	HP:0000007	Autosomal recessive inheritance
1956	EGFR	HP:0000006	Autosomal dominant inheritance
1956	EGFR	HP:0031123	Recurrent gastroenteritis
1956	EGFR	HP:0410017	Otitis externa
1956	EGFR	HP:0001428	Somatic mutation
1956	EGFR	HP:0002013	Vomiting
1956	EGFR	HP:0100501	Recurrent bronchiolitis
1956	EGFR	HP:0003577	Congenital onset
1956	EGFR	HP:0008396	Chronic monilial nail infection
1956	EGFR	HP:0025092	Epidermal acanthosis
1956	EGFR	HP:0200034	Papule
1956	EGFR	HP:0025085	Bloody diarrhea
1956	EGFR	HP:0200039	Pustule
1956	EGFR	HP:0010783	Erythema
1956	EGFR	HP:0001944	Dehydration
1956	EGFR	HP:0011354	Generalized abnormality of skin
1956	EGFR	HP:0100038	Slow-growing scalp hair
1956	EGFR	HP:0000822	Hypertension
1956	EGFR	HP:0003212	Increased circulating IgE level
1956	EGFR	HP:0040181	Chapped lip
1956	EGFR	HP:0040189	Scaling skin
1956	EGFR	HP:0030078	Lung adenocarcinoma
1956	EGFR	HP:0001561	Polyhydramnios
1956	EGFR	HP:0001508	Failure to thrive
1956	EGFR	HP:0012390	Anal fissure
1956	EGFR	HP:0005208	Secretory diarrhea
1956	EGFR	HP:0006532	Recurrent pneumonia
1956	EGFR	HP:0006519	Alveolar cell carcinoma
1956	EGFR	HP:0001680	Coarctation of aorta
1956	EGFR	HP:0000498	Blepharitis
1956	EGFR	HP:0001712	Left ventricular hypertrophy
1956	EGFR	HP:0011131	Perianal dermatitis
1956	EGFR	HP:0005406	Recurrent bacterial skin infections
1956	EGFR	HP:0000527	Long eyelashes
1956	EGFR	HP:0001805	Onychogryposis
1956	EGFR	HP:0030358	Non-small cell lung carcinoma
1956	EGFR	HP:0011228	Horizontal eyebrow
1959	EGR2	HP:0001178	Ulnar claw
1959	EGR2	HP:0001171	Split hand
1959	EGR2	HP:0002460	Distal muscle weakness
1959	EGR2	HP:0010871	Sensory ataxia
1959	EGR2	HP:0003701	Proximal muscle weakness
1959	EGR2	HP:0001291	Abnormal cranial nerve morphology
1959	EGR2	HP:0001270	Motor delay
1959	EGR2	HP:0001284	Areflexia
1959	EGR2	HP:0001252	Hypotonia
1959	EGR2	HP:0001265	Hyporeflexia
1959	EGR2	HP:0000007	Autosomal recessive inheritance
1959	EGR2	HP:0000006	Autosomal dominant inheritance
1959	EGR2	HP:0001308	Tongue fasciculations
1959	EGR2	HP:0002650	Scoliosis
1959	EGR2	HP:0001319	Neonatal hypotonia
1959	EGR2	HP:0002751	Kyphoscoliosis
1959	EGR2	HP:0002093	Respiratory insufficiency
1959	EGR2	HP:0003376	Steppage gait
1959	EGR2	HP:0003383	Onion bulb formation
1959	EGR2	HP:0003382	Hypertrophic nerve changes
1959	EGR2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
1959	EGR2	HP:0003484	Upper limb muscle weakness
1959	EGR2	HP:0003481	Segmental peripheral demyelination/remyelination
1959	EGR2	HP:0003448	Decreased sensory nerve conduction velocity
1959	EGR2	HP:0002136	Broad-based gait
1959	EGR2	HP:0003431	Decreased motor nerve conduction velocity
1959	EGR2	HP:0003593	Infantile onset
1959	EGR2	HP:0003577	Congenital onset
1959	EGR2	HP:0003693	Distal amyotrophy
1959	EGR2	HP:0009830	Peripheral neuropathy
1959	EGR2	HP:0003621	Juvenile onset
1959	EGR2	HP:0007182	Peripheral hypomyelination
1959	EGR2	HP:0006886	Impaired distal vibration sensation
1959	EGR2	HP:0000639	Nystagmus
1959	EGR2	HP:0009053	Distal lower limb muscle weakness
1959	EGR2	HP:0009027	Foot dorsiflexor weakness
1959	EGR2	HP:0011096	Peripheral demyelination
1959	EGR2	HP:0002936	Distal sensory impairment
1959	EGR2	HP:0002922	Increased CSF protein concentration
1959	EGR2	HP:0030175	Myelin tomacula
1959	EGR2	HP:0001763	Pes planus
1959	EGR2	HP:0001765	Hammertoe
1959	EGR2	HP:0001761	Pes cavus
1962	EHHADH	HP:0003774	Stage 5 chronic kidney disease
1962	EHHADH	HP:0000083	Renal insufficiency
1962	EHHADH	HP:0002659	Increased susceptibility to fractures
1962	EHHADH	HP:0001324	Muscle weakness
1962	EHHADH	HP:0000006	Autosomal dominant inheritance
1962	EHHADH	HP:0002653	Bone pain
1962	EHHADH	HP:0000117	Renal phosphate wasting
1962	EHHADH	HP:0002748	Rickets
1962	EHHADH	HP:0002749	Osteomalacia
1962	EHHADH	HP:0003355	Aminoaciduria
1962	EHHADH	HP:0002049	Proximal renal tubular acidosis
1962	EHHADH	HP:0002150	Hypercalciuria
1962	EHHADH	HP:0002148	Hypophosphatemia
1962	EHHADH	HP:0003593	Infantile onset
1962	EHHADH	HP:0003537	Hypouricemia
1962	EHHADH	HP:0002206	Pulmonary fibrosis
1962	EHHADH	HP:0003646	Bicarbonaturia
1962	EHHADH	HP:0004918	Hyperchloremic metabolic acidosis
1962	EHHADH	HP:0004912	Hypophosphatemic rickets
1962	EHHADH	HP:0004910	Bicarbonate-wasting renal tubular acidosis
1962	EHHADH	HP:0012622	Chronic kidney disease
1962	EHHADH	HP:0012606	Renal sodium wasting
1962	EHHADH	HP:0001944	Dehydration
1962	EHHADH	HP:0001943	Hypoglycemia
1962	EHHADH	HP:0001942	Metabolic acidosis
1962	EHHADH	HP:0004322	Short stature
1962	EHHADH	HP:0003076	Glycosuria
1962	EHHADH	HP:0003081	Increased urinary potassium
1962	EHHADH	HP:0003109	Hyperphosphaturia
1962	EHHADH	HP:0003126	Low-molecular-weight proteinuria
1962	EHHADH	HP:0003149	Hyperuricosuria
1962	EHHADH	HP:0003234	Decreased plasma carnitine
1962	EHHADH	HP:0003259	Elevated circulating creatinine concentration
1962	EHHADH	HP:0001510	Growth delay
1962	EHHADH	HP:0002909	Generalized aminoaciduria
1962	EHHADH	HP:0002900	Hypokalemia
1962	EHHADH	HP:0002979	Bowing of the legs
1962	EHHADH	HP:0001824	Weight loss
1967	EIF2B1	HP:0007305	CNS demyelination
1967	EIF2B1	HP:0001290	Generalized hypotonia
1967	EIF2B1	HP:0001288	Gait disturbance
1967	EIF2B1	HP:0001254	Lethargy
1967	EIF2B1	HP:0001250	Seizure
1967	EIF2B1	HP:0001252	Hypotonia
1967	EIF2B1	HP:0001260	Dysarthria
1967	EIF2B1	HP:0001257	Spasticity
1967	EIF2B1	HP:0000007	Autosomal recessive inheritance
1967	EIF2B1	HP:0008193	Primary gonadal insufficiency
1967	EIF2B1	HP:0002171	Gliosis
1967	EIF2B1	HP:0008233	Decreased circulating progesterone
1967	EIF2B1	HP:0008209	Premature ovarian insufficiency
1967	EIF2B1	HP:0002376	Developmental regression
1967	EIF2B1	HP:0002354	Memory impairment
1967	EIF2B1	HP:0002352	Leukoencephalopathy
1967	EIF2B1	HP:0002317	Unsteady gait
1967	EIF2B1	HP:0003621	Juvenile onset
1967	EIF2B1	HP:0006808	Cerebral hypomyelination
1967	EIF2B1	HP:0000648	Optic atrophy
1967	EIF2B1	HP:0000618	Blindness
1967	EIF2B1	HP:0001945	Fever
1967	EIF2B1	HP:0000751	Personality changes
1967	EIF2B1	HP:0000746	Delusions
1967	EIF2B1	HP:0000712	Emotional lability
1967	EIF2B1	HP:0000786	Primary amenorrhea
1967	EIF2B1	HP:0004485	Cessation of head growth
1967	EIF2B1	HP:0000869	Secondary amenorrhea
1967	EIF2B1	HP:0000256	Macrocephaly
1968	EIF2S3	HP:0001182	Tapered finger
1968	EIF2S3	HP:0002465	Poor speech
1968	EIF2S3	HP:0010864	Intellectual disability, severe
1968	EIF2S3	HP:0001290	Generalized hypotonia
1968	EIF2S3	HP:0001276	Hypertonia
1968	EIF2S3	HP:0001285	Spastic tetraparesis
1968	EIF2S3	HP:0001250	Seizure
1968	EIF2S3	HP:0001252	Hypotonia
1968	EIF2S3	HP:0001249	Intellectual disability
1968	EIF2S3	HP:0001263	Global developmental delay
1968	EIF2S3	HP:0001257	Spasticity
1968	EIF2S3	HP:0008736	Hypoplasia of penis
1968	EIF2S3	HP:0002540	Inability to walk
1968	EIF2S3	HP:0003828	Variable expressivity
1968	EIF2S3	HP:0000054	Micropenis
1968	EIF2S3	HP:0001347	Hyperreflexia
1968	EIF2S3	HP:0000026	Male hypogonadism
1968	EIF2S3	HP:0000028	Cryptorchidism
1968	EIF2S3	HP:0000194	Open mouth
1968	EIF2S3	HP:0000175	Cleft palate
1968	EIF2S3	HP:0410030	Cleft lip
1968	EIF2S3	HP:0008936	Axial hypotonia
1968	EIF2S3	HP:0001419	X-linked recessive inheritance
1968	EIF2S3	HP:0002714	Downturned corners of mouth
1968	EIF2S3	HP:0002066	Gait ataxia
1968	EIF2S3	HP:0002079	Hypoplasia of the corpus callosum
1968	EIF2S3	HP:0003487	Babinski sign
1968	EIF2S3	HP:0002119	Ventriculomegaly
1968	EIF2S3	HP:0003561	Birth length less than 3rd percentile
1968	EIF2S3	HP:0009748	Large earlobe
1968	EIF2S3	HP:0002355	Difficulty walking
1968	EIF2S3	HP:0002353	EEG abnormality
1968	EIF2S3	HP:0002307	Drooling
1968	EIF2S3	HP:0000639	Nystagmus
1968	EIF2S3	HP:0001943	Hypoglycemia
1968	EIF2S3	HP:0011344	Severe global developmental delay
1968	EIF2S3	HP:0000687	Widely spaced teeth
1968	EIF2S3	HP:0400000	Tall chin
1968	EIF2S3	HP:0000750	Delayed speech and language development
1968	EIF2S3	HP:0000718	Aggressive behavior
1968	EIF2S3	HP:0000713	Agitation
1968	EIF2S3	HP:0000819	Diabetes mellitus
1968	EIF2S3	HP:0000824	Decreased response to growth hormone stimulation test
1968	EIF2S3	HP:0000823	Delayed puberty
1968	EIF2S3	HP:0003241	External genital hypoplasia
1968	EIF2S3	HP:0000293	Full cheeks
1968	EIF2S3	HP:0000276	Long face
1968	EIF2S3	HP:0000252	Microcephaly
1968	EIF2S3	HP:0001518	Small for gestational age
1968	EIF2S3	HP:0001510	Growth delay
1968	EIF2S3	HP:0001513	Obesity
1968	EIF2S3	HP:0000340	Sloping forehead
1968	EIF2S3	HP:0000343	Long philtrum
1968	EIF2S3	HP:0000311	Round face
1968	EIF2S3	HP:0000400	Macrotia
1968	EIF2S3	HP:0000486	Strabismus
1968	EIF2S3	HP:0012471	Thick vermilion border
1968	EIF2S3	HP:0000455	Broad nasal tip
1968	EIF2S3	HP:0000437	Depressed nasal tip
1968	EIF2S3	HP:0001762	Talipes equinovarus
1968	EIF2S3	HP:0000545	Myopia
1969	EPHA2	HP:0001139	Choroideremia
1969	EPHA2	HP:0001115	Posterior polar cataract
1969	EPHA2	HP:0000006	Autosomal dominant inheritance
1969	EPHA2	HP:0000519	Developmental cataract
1969	EPHA2	HP:0000545	Myopia
1981	EIF4G1	HP:0001268	Mental deterioration
1981	EIF4G1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
1981	EIF4G1	HP:0001332	Dystonia
1981	EIF4G1	HP:0000006	Autosomal dominant inheritance
1981	EIF4G1	HP:0001300	Parkinsonism
1981	EIF4G1	HP:0002015	Dysphagia
1981	EIF4G1	HP:0002067	Bradykinesia
1981	EIF4G1	HP:0003394	Muscle spasm
1981	EIF4G1	HP:0002063	Rigidity
1981	EIF4G1	HP:0002120	Cerebral cortical atrophy
1981	EIF4G1	HP:0002171	Gliosis
1981	EIF4G1	HP:0002172	Postural instability
1981	EIF4G1	HP:0003596	Middle age onset
1981	EIF4G1	HP:0003587	Insidious onset
1981	EIF4G1	HP:0003584	Late onset
1981	EIF4G1	HP:0100710	Impulsivity
1981	EIF4G1	HP:0100753	Schizophrenia
1981	EIF4G1	HP:0002367	Visual hallucinations
1981	EIF4G1	HP:0002362	Shuffling gait
1981	EIF4G1	HP:0002360	Sleep disturbance
1981	EIF4G1	HP:0002359	Frequent falls
1981	EIF4G1	HP:0002322	Resting tremor
1981	EIF4G1	HP:0100660	Dyskinesia
1981	EIF4G1	HP:0002304	Akinesia
1981	EIF4G1	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
1981	EIF4G1	HP:0000651	Diplopia
1981	EIF4G1	HP:0000744	Low frustration tolerance
1981	EIF4G1	HP:0000741	Apathy
1981	EIF4G1	HP:0000716	Depression
1981	EIF4G1	HP:0000713	Agitation
1981	EIF4G1	HP:0000726	Dementia
1981	EIF4G1	HP:0004409	Hyposmia
1981	EIF4G1	HP:0100315	Lewy bodies
1981	EIF4G1	HP:0031435	Monotonic speech
1981	EIF4G1	HP:0000338	Hypomimic face
1981	EIF4G1	HP:0005340	Spastic/hyperactive bladder
1981	EIF4G1	HP:0012450	Chronic constipation
1981	EIF4G1	HP:0001824	Weight loss
1984	EIF5A	HP:0008551	Microtia
1984	EIF5A	HP:0001252	Hypotonia
1984	EIF5A	HP:0001382	Joint hypermobility
1984	EIF5A	HP:0001357	Plagiocephaly
1984	EIF5A	HP:0000028	Cryptorchidism
1984	EIF5A	HP:0008872	Feeding difficulties in infancy
1984	EIF5A	HP:0000006	Autosomal dominant inheritance
1984	EIF5A	HP:0001319	Neonatal hypotonia
1984	EIF5A	HP:0000175	Cleft palate
1984	EIF5A	HP:0002020	Gastroesophageal reflux
1984	EIF5A	HP:0002015	Dysphagia
1984	EIF5A	HP:0002007	Frontal bossing
1984	EIF5A	HP:0003577	Congenital onset
1984	EIF5A	HP:0002209	Sparse scalp hair
1984	EIF5A	HP:0008439	Lumbar hemivertebrae
1984	EIF5A	HP:0000637	Long palpebral fissure
1984	EIF5A	HP:0030674	Antenatal onset
1984	EIF5A	HP:0400004	Long ear
1984	EIF5A	HP:0000729	Autistic behavior
1984	EIF5A	HP:0011451	Primary microcephaly
1984	EIF5A	HP:0000823	Delayed puberty
1984	EIF5A	HP:0005830	Flexion contracture of toe
1984	EIF5A	HP:0010314	Premature thelarche
1984	EIF5A	HP:0000286	Epicanthus
1984	EIF5A	HP:0007697	Hypoplasia of the lower eyelids
1984	EIF5A	HP:0000219	Thin upper lip vermilion
1984	EIF5A	HP:0001508	Failure to thrive
1984	EIF5A	HP:0001511	Intrauterine growth retardation
1984	EIF5A	HP:0000378	Cupped ear
1984	EIF5A	HP:0000369	Low-set ears
1984	EIF5A	HP:0000347	Micrognathia
1984	EIF5A	HP:0000316	Hypertelorism
1984	EIF5A	HP:0000405	Conductive hearing impairment
1984	EIF5A	HP:0000494	Downslanted palpebral fissures
1984	EIF5A	HP:0000490	Deeply set eye
1984	EIF5A	HP:0001791	Fetal ascites
1984	EIF5A	HP:0012450	Chronic constipation
1984	EIF5A	HP:0001763	Pes planus
1984	EIF5A	HP:0000414	Bulbous nose
1984	EIF5A	HP:0000430	Underdeveloped nasal alae
1984	EIF5A	HP:0001800	Hypoplastic toenails
1984	EIF5A	HP:0011229	Broad eyebrow
1991	ELANE	HP:0100806	Sepsis
1991	ELANE	HP:0002586	Peritonitis
1991	ELANE	HP:0025289	Cervical lymphadenopathy
1991	ELANE	HP:0032323	Periodic fever
1991	ELANE	HP:0033834	Malaise
1991	ELANE	HP:0000006	Autosomal dominant inheritance
1991	ELANE	HP:0002653	Bone pain
1991	ELANE	HP:0025452	Pyoderma gangrenosum
1991	ELANE	HP:0025439	Pharyngitis
1991	ELANE	HP:0000155	Oral ulcer
1991	ELANE	HP:0006357	Premature loss of permanent teeth
1991	ELANE	HP:0006308	Atrophy of alveolar ridges
1991	ELANE	HP:0410018	Recurrent ear infections
1991	ELANE	HP:0002718	Recurrent bacterial infections
1991	ELANE	HP:0002716	Lymphadenopathy
1991	ELANE	HP:0002027	Abdominal pain
1991	ELANE	HP:0002014	Diarrhea
1991	ELANE	HP:0002090	Pneumonia
1991	ELANE	HP:0040289	Cyclic neutropenia
1991	ELANE	HP:0003453	Antineutrophil antibody positivity
1991	ELANE	HP:0004798	Recurrent infection of the gastrointestinal tract
1991	ELANE	HP:0003593	Infantile onset
1991	ELANE	HP:0010702	Increased circulating antibody level
1991	ELANE	HP:0011947	Respiratory tract infection
1991	ELANE	HP:0004845	Acute monocytic leukemia
1991	ELANE	HP:0004808	Acute myeloid leukemia
1991	ELANE	HP:0001028	Hemangioma
1991	ELANE	HP:0002315	Headache
1991	ELANE	HP:0100658	Cellulitis
1991	ELANE	HP:0009789	Perianal abscess
1991	ELANE	HP:0032169	Severe infection
1991	ELANE	HP:0005541	Congenital agranulocytosis
1991	ELANE	HP:0031864	Bacteremia
1991	ELANE	HP:0031891	Decreased eosinophil count
1991	ELANE	HP:0001945	Fever
1991	ELANE	HP:0001954	Recurrent fever
1991	ELANE	HP:0001909	Leukemia
1991	ELANE	HP:0001903	Anemia
1991	ELANE	HP:0001915	Aplastic anemia
1991	ELANE	HP:0004387	Enterocolitis
1991	ELANE	HP:0000704	Periodontitis
1991	ELANE	HP:0030757	Tooth abscess
1991	ELANE	HP:0004429	Recurrent viral infections
1991	ELANE	HP:0000938	Osteopenia
1991	ELANE	HP:0001581	Recurrent skin infections
1991	ELANE	HP:0000246	Sinusitis
1991	ELANE	HP:0000230	Gingivitis
1991	ELANE	HP:0002863	Myelodysplasia
1991	ELANE	HP:0001507	Growth abnormality
1991	ELANE	HP:0012378	Fatigue
1991	ELANE	HP:0012384	Rhinitis
1991	ELANE	HP:0000388	Otitis media
1991	ELANE	HP:0006480	Premature loss of teeth
1991	ELANE	HP:0012311	Monocytosis
1991	ELANE	HP:0011107	Recurrent aphthous stomatitis
1991	ELANE	HP:0011110	Recurrent tonsillitis
1991	ELANE	HP:0005425	Recurrent sinopulmonary infections
1991	ELANE	HP:0006721	Acute lymphoblastic leukemia
1991	ELANE	HP:0031690	Opportunistic infection
1991	ELANE	HP:0001894	Thrombocytosis
1991	ELANE	HP:0001888	Lymphopenia
1991	ELANE	HP:0001880	Eosinophilia
1991	ELANE	HP:0001873	Thrombocytopenia
1991	ELANE	HP:0001875	Neutropenia
2000	ELF4	HP:0100827	Lymphocytosis
2000	ELF4	HP:0002583	Colitis
2000	ELF4	HP:0001369	Arthritis
2000	ELF4	HP:0000155	Oral ulcer
2000	ELF4	HP:0001419	X-linked recessive inheritance
2000	ELF4	HP:0002037	Inflammation of the large intestine
2000	ELF4	HP:0002027	Abdominal pain
2000	ELF4	HP:0002014	Diarrhea
2000	ELF4	HP:0003593	Infantile onset
2000	ELF4	HP:0003565	Elevated erythrocyte sedimentation rate
2000	ELF4	HP:0002205	Recurrent respiratory infections
2000	ELF4	HP:0100633	Esophagitis
2000	ELF4	HP:0009789	Perianal abscess
2000	ELF4	HP:0003621	Juvenile onset
2000	ELF4	HP:0001945	Fever
2000	ELF4	HP:0001954	Recurrent fever
2000	ELF4	HP:0011463	Childhood onset
2000	ELF4	HP:0030783	Increased circulating interleukin 6 concentration
2000	ELF4	HP:0040218	Reduced natural killer cell count
2000	ELF4	HP:0000988	Skin rash
2000	ELF4	HP:0005231	Chronic gastritis
2000	ELF4	HP:0005218	Anoperineal fistula
2000	ELF4	HP:0012450	Chronic constipation
2000	ELF4	HP:0001824	Weight loss
2000	ELF4	HP:0011227	Elevated circulating C-reactive protein concentration
2000	ELF4	HP:0001891	Iron deficiency anemia
2000	ELF4	HP:0001894	Thrombocytosis
2000	ELF4	HP:0030374	Decreased proportion of memory B cells
2006	ELN	HP:0001181	Adducted thumb
2006	ELN	HP:0001166	Arachnodactyly
2006	ELN	HP:0001136	Retinal arteriolar tortuosity
2006	ELN	HP:0025167	Fragmented elastic fibers in the dermis
2006	ELN	HP:0010880	Increased nuchal translucency
2006	ELN	HP:0001297	Stroke
2006	ELN	HP:0001290	Generalized hypotonia
2006	ELN	HP:0100817	Renovascular hypertension
2006	ELN	HP:0001270	Motor delay
2006	ELN	HP:0001288	Gait disturbance
2006	ELN	HP:0001252	Hypotonia
2006	ELN	HP:0001251	Ataxia
2006	ELN	HP:0001249	Intellectual disability
2006	ELN	HP:0001260	Dysarthria
2006	ELN	HP:0001263	Global developmental delay
2006	ELN	HP:0001257	Spasticity
2006	ELN	HP:0001231	Abnormal fingernail morphology
2006	ELN	HP:0002575	Tracheoesophageal fistula
2006	ELN	HP:0008770	Obsessive-compulsive trait
2006	ELN	HP:0008736	Hypoplasia of penis
2006	ELN	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
2006	ELN	HP:0008661	Urethral stenosis
2006	ELN	HP:0000089	Renal hypoplasia
2006	ELN	HP:0000083	Renal insufficiency
2006	ELN	HP:0000098	Tall stature
2006	ELN	HP:0000093	Proteinuria
2006	ELN	HP:0000076	Vesicoureteral reflux
2006	ELN	HP:0000075	Renal duplication
2006	ELN	HP:0000044	Hypogonadotropic hypogonadism
2006	ELN	HP:0001371	Flexion contracture
2006	ELN	HP:0000054	Micropenis
2006	ELN	HP:0001388	Joint laxity
2006	ELN	HP:0001387	Joint stiffness
2006	ELN	HP:0002686	Prenatal maternal abnormality
2006	ELN	HP:0000023	Inguinal hernia
2006	ELN	HP:0000015	Bladder diverticulum
2006	ELN	HP:0000014	Abnormality of the bladder
2006	ELN	HP:0001348	Brisk reflexes
2006	ELN	HP:0002677	Small foramen magnum
2006	ELN	HP:0001347	Hyperreflexia
2006	ELN	HP:0001361	Nystagmus-induced head nodding
2006	ELN	HP:0000025	Functional abnormality of male internal genitalia
2006	ELN	HP:0000028	Cryptorchidism
2006	ELN	HP:0008897	Postnatal growth retardation
2006	ELN	HP:0008872	Feeding difficulties in infancy
2006	ELN	HP:0007522	Increased number of skin folds
2006	ELN	HP:0007495	Prematurely aged appearance
2006	ELN	HP:0007477	Abnormal dermatoglyphics
2006	ELN	HP:0000010	Recurrent urinary tract infections
2006	ELN	HP:0001337	Tremor
2006	ELN	HP:0000006	Autosomal dominant inheritance
2006	ELN	HP:0001310	Dysmetria
2006	ELN	HP:0002637	Cerebral ischemia
2006	ELN	HP:0002650	Scoliosis
2006	ELN	HP:0001321	Cerebellar hypoplasia
2006	ELN	HP:0002647	Aortic dissection
2006	ELN	HP:0002645	Wormian bones
2006	ELN	HP:0002644	Abnormal pelvic girdle bone morphology
2006	ELN	HP:0002616	Aortic root aneurysm
2006	ELN	HP:0002623	Overriding aorta
2006	ELN	HP:0002608	Celiac disease
2006	ELN	HP:0000179	Thick lower lip vermilion
2006	ELN	HP:0000194	Open mouth
2006	ELN	HP:0012163	Carotid artery dilatation
2006	ELN	HP:0000158	Macroglossia
2006	ELN	HP:0000139	Uterine prolapse
2006	ELN	HP:0000154	Wide mouth
2006	ELN	HP:0000147	Polycystic ovaries
2006	ELN	HP:0002705	High, narrow palate
2006	ELN	HP:0000121	Nephrocalcinosis
2006	ELN	HP:0000122	Unilateral renal agenesis
2006	ELN	HP:0000125	Pelvic kidney
2006	ELN	HP:0001409	Portal hypertension
2006	ELN	HP:0002751	Kyphoscoliosis
2006	ELN	HP:0002750	Delayed skeletal maturation
2006	ELN	HP:0002024	Malabsorption
2006	ELN	HP:0002020	Gastroesophageal reflux
2006	ELN	HP:0002019	Constipation
2006	ELN	HP:0002017	Nausea and vomiting
2006	ELN	HP:0002035	Rectal prolapse
2006	ELN	HP:0002027	Abdominal pain
2006	ELN	HP:0005989	Redundant neck skin
2006	ELN	HP:0002013	Vomiting
2006	ELN	HP:0003312	Abnormal form of the vertebral bodies
2006	ELN	HP:0003307	Hyperlordosis
2006	ELN	HP:0005978	Type II diabetes mellitus
2006	ELN	HP:0011800	Midface retrusion
2006	ELN	HP:0100539	Periorbital edema
2006	ELN	HP:0100545	Arterial stenosis
2006	ELN	HP:0002097	Emphysema
2006	ELN	HP:0002094	Dyspnea
2006	ELN	HP:0002071	Abnormality of extrapyramidal motor function
2006	ELN	HP:0100512	Low levels of vitamin D
2006	ELN	HP:0002140	Ischemic stroke
2006	ELN	HP:0002141	Gait imbalance
2006	ELN	HP:0002138	Subarachnoid hemorrhage
2006	ELN	HP:0002150	Hypercalciuria
2006	ELN	HP:0002120	Cerebral cortical atrophy
2006	ELN	HP:0004764	Myxomatous mitral valve degeneration
2006	ELN	HP:0002110	Bronchiectasis
2006	ELN	HP:0002107	Pneumothorax
2006	ELN	HP:0002105	Hemoptysis
2006	ELN	HP:0003422	Vertebral segmentation defect
2006	ELN	HP:0002183	Phonophobia
2006	ELN	HP:0002167	Abnormality of speech or vocalization
2006	ELN	HP:0010526	Dysgraphia
2006	ELN	HP:0003577	Congenital onset
2006	ELN	HP:0002256	Small bowel diverticula
2006	ELN	HP:0002253	Colonic diverticula
2006	ELN	HP:0003549	Abnormality of connective tissue
2006	ELN	HP:0002216	Premature graying of hair
2006	ELN	HP:0002205	Recurrent respiratory infections
2006	ELN	HP:0200146	Mucoid extracellular matrix accumulation
2006	ELN	HP:0009748	Large earlobe
2006	ELN	HP:0100775	Dural ectasia
2006	ELN	HP:0100790	Hernia
2006	ELN	HP:0100785	Insomnia
2006	ELN	HP:0100749	Chest pain
2006	ELN	HP:0010674	Abnormality of the curvature of the vertebral column
2006	ELN	HP:0010662	Abnormality of the diencephalon
2006	ELN	HP:0010669	Hypoplasia of the zygomatic bone
2006	ELN	HP:0007018	Attention deficit hyperactivity disorder
2006	ELN	HP:0010648	Dermal translucency
2006	ELN	HP:0011968	Feeding difficulties
2006	ELN	HP:0011950	Bronchiolitis
2006	ELN	HP:0007099	Chiari type I malformation
2006	ELN	HP:0001058	Poor wound healing
2006	ELN	HP:0001052	Nevus flammeus
2006	ELN	HP:0002360	Sleep disturbance
2006	ELN	HP:0002376	Developmental regression
2006	ELN	HP:0002370	Poor coordination
2006	ELN	HP:0002326	Transient ischemic attack
2006	ELN	HP:0200021	Down-sloping shoulders
2006	ELN	HP:0100659	Abnormal cerebral vascular morphology
2006	ELN	HP:0100678	Premature skin wrinkling
2006	ELN	HP:0010807	Open bite
2006	ELN	HP:0100613	Death in early adulthood
2006	ELN	HP:0001081	Cholelithiasis
2006	ELN	HP:0008499	High hypermetropia
2006	ELN	HP:0010794	Impaired visuospatial constructive cognition
2006	ELN	HP:0010780	Hyperacusis
2006	ELN	HP:0010747	Medial flaring of the eyebrow
2006	ELN	HP:0004959	Descending thoracic aorta aneurysm
2006	ELN	HP:0002311	Incoordination
2006	ELN	HP:0002308	Chiari malformation
2006	ELN	HP:0004969	Peripheral pulmonary artery stenosis
2006	ELN	HP:0004933	Ascending aortic dissection
2006	ELN	HP:0004950	Peripheral arterial stenosis
2006	ELN	HP:0004944	Dilatation of the cerebral artery
2006	ELN	HP:0004942	Aortic aneurysm
2006	ELN	HP:0004209	Clinodactyly of the 5th finger
2006	ELN	HP:0004295	Abnormal gastric mucosa morphology
2006	ELN	HP:0005562	Multiple renal cysts
2006	ELN	HP:0001969	Abnormal tubulointerstitial morphology
2006	ELN	HP:0000635	Blue irides
2006	ELN	HP:0000632	Lacrimation abnormality
2006	ELN	HP:0000646	Amblyopia
2006	ELN	HP:0000627	Posterior embryotoxon
2006	ELN	HP:0000629	Periorbital fullness
2006	ELN	HP:0001952	Glucose intolerance
2006	ELN	HP:0001920	Renal artery stenosis
2006	ELN	HP:0000601	Hypotelorism
2006	ELN	HP:0000682	Abnormal dental enamel morphology
2006	ELN	HP:0000691	Microdontia
2006	ELN	HP:0000689	Dental malocclusion
2006	ELN	HP:0000670	Carious teeth
2006	ELN	HP:0012639	Abnormal nervous system morphology
2006	ELN	HP:0000668	Hypodontia
2006	ELN	HP:0001999	Abnormal facial shape
2006	ELN	HP:0004322	Short stature
2006	ELN	HP:0004306	Abnormal endocardium morphology
2006	ELN	HP:0004305	Involuntary movements
2006	ELN	HP:0003072	Hypercalcemia
2006	ELN	HP:0000805	Enuresis
2006	ELN	HP:0004381	Supravalvular aortic stenosis
2006	ELN	HP:0004398	Peptic ulcer
2006	ELN	HP:0005692	Joint hyperflexibility
2006	ELN	HP:0003028	Abnormality of the ankle
2006	ELN	HP:0100025	Overfriendliness
2006	ELN	HP:0000767	Pectus excavatum
2006	ELN	HP:0000766	Abnormal sternum morphology
2006	ELN	HP:0000739	Anxiety
2006	ELN	HP:0000736	Short attention span
2006	ELN	HP:0000716	Depression
2006	ELN	HP:0000717	Autism
2006	ELN	HP:0000729	Autistic behavior
2006	ELN	HP:0000722	Compulsive behaviors
2006	ELN	HP:0100000	Early onset of sexual maturation
2006	ELN	HP:0012763	Paroxysmal dyspnea
2006	ELN	HP:0000787	Nephrolithiasis
2006	ELN	HP:0003119	Abnormal circulating lipid concentration
2006	ELN	HP:0004415	Pulmonary artery stenosis
2006	ELN	HP:0004428	Elfin facies
2006	ELN	HP:0003198	Myopathy
2006	ELN	HP:0003196	Short nose
2006	ELN	HP:0000819	Diabetes mellitus
2006	ELN	HP:0000826	Precocious puberty
2006	ELN	HP:0000822	Hypertension
2006	ELN	HP:0000821	Hypothyroidism
2006	ELN	HP:0003236	Elevated circulating creatine kinase concentration
2006	ELN	HP:0003298	Spina bifida occulta
2006	ELN	HP:0000978	Bruising susceptibility
2006	ELN	HP:0000977	Soft skin
2006	ELN	HP:0000974	Hyperextensible skin
2006	ELN	HP:0000973	Cutis laxa
2006	ELN	HP:0000965	Cutis marmorata
2006	ELN	HP:0000960	Sacral dimple
2006	ELN	HP:0000939	Osteoporosis
2006	ELN	HP:0000938	Osteopenia
2006	ELN	HP:0100240	Synostosis of joints
2006	ELN	HP:0008053	Aplasia/Hypoplasia of the iris
2006	ELN	HP:0011675	Arrhythmia
2006	ELN	HP:0007720	Flat cornea
2006	ELN	HP:0000286	Epicanthus
2006	ELN	HP:0000280	Coarse facial features
2006	ELN	HP:0000278	Retrognathia
2006	ELN	HP:0000293	Full cheeks
2006	ELN	HP:0000275	Narrow face
2006	ELN	HP:0000270	Delayed cranial suture closure
2006	ELN	HP:0000272	Malar flattening
2006	ELN	HP:0005145	Coronary artery stenosis
2006	ELN	HP:0005113	Aortic arch aneurysm
2006	ELN	HP:0005112	Abdominal aortic aneurysm
2006	ELN	HP:0002816	Genu recurvatum
2006	ELN	HP:0002829	Arthralgia
2006	ELN	HP:0002827	Hip dislocation
2006	ELN	HP:0002808	Kyphosis
2006	ELN	HP:0000252	Microcephaly
2006	ELN	HP:0001582	Redundant skin
2006	ELN	HP:0012210	Abnormal renal morphology
2006	ELN	HP:0000212	Gingival overgrowth
2006	ELN	HP:0002875	Exertional dyspnea
2006	ELN	HP:0000232	Everted lower lip vermilion
2006	ELN	HP:0001531	Failure to thrive in infancy
2006	ELN	HP:0002857	Genu valgum
2006	ELN	HP:0001537	Umbilical hernia
2006	ELN	HP:0001511	Intrauterine growth retardation
2006	ELN	HP:0001513	Obesity
2006	ELN	HP:0000389	Chronic otitis media
2006	ELN	HP:0001609	Hoarse voice
2006	ELN	HP:0001608	Abnormality of the voice
2006	ELN	HP:0001605	Vocal cord paralysis
2006	ELN	HP:0001618	Dysphonia
2006	ELN	HP:0005162	Abnormal left ventricular function
2006	ELN	HP:0006482	Abnormality of dental morphology
2006	ELN	HP:0000369	Low-set ears
2006	ELN	HP:0001699	Sudden death
2006	ELN	HP:0000368	Low-set, posteriorly rotated ears
2006	ELN	HP:0000341	Narrow forehead
2006	ELN	HP:0001671	Abnormal cardiac septum morphology
2006	ELN	HP:0000343	Long philtrum
2006	ELN	HP:0012330	Pyelonephritis
2006	ELN	HP:0011001	Increased bone mineral density
2006	ELN	HP:0000337	Broad forehead
2006	ELN	HP:0002999	Patellar dislocation
2006	ELN	HP:0001680	Coarctation of aorta
2006	ELN	HP:0000348	High forehead
2006	ELN	HP:0000347	Micrognathia
2006	ELN	HP:0001677	Coronary artery atherosclerosis
2006	ELN	HP:0001647	Bicuspid aortic valve
2006	ELN	HP:0000316	Hypertelorism
2006	ELN	HP:0001643	Patent ductus arteriosus
2006	ELN	HP:0001642	Pulmonic stenosis
2006	ELN	HP:0001645	Sudden cardiac death
2006	ELN	HP:0002974	Radioulnar synostosis
2006	ELN	HP:0001658	Myocardial infarction
2006	ELN	HP:0001659	Aortic regurgitation
2006	ELN	HP:0001653	Mitral regurgitation
2006	ELN	HP:0000325	Triangular face
2006	ELN	HP:0001629	Ventricular septal defect
2006	ELN	HP:0001626	Abnormality of the cardiovascular system
2006	ELN	HP:0001640	Cardiomegaly
2006	ELN	HP:0001639	Hypertrophic cardiomyopathy
2006	ELN	HP:0001636	Tetralogy of Fallot
2006	ELN	HP:0001635	Congestive heart failure
2006	ELN	HP:0000307	Pointed chin
2006	ELN	HP:0001631	Atrial septal defect
2006	ELN	HP:0001634	Mitral valve prolapse
2006	ELN	HP:0007957	Corneal opacity
2006	ELN	HP:0012499	Descending aortic dissection
2006	ELN	HP:0006698	Dilatation of the ventricular cavity
2006	ELN	HP:0005328	Progeroid facial appearance
2006	ELN	HP:0005344	Abnormal carotid artery morphology
2006	ELN	HP:0000407	Sensorineural hearing impairment
2006	ELN	HP:0000403	Recurrent otitis media
2006	ELN	HP:0000400	Macrotia
2006	ELN	HP:0005280	Depressed nasal bridge
2006	ELN	HP:0000486	Strabismus
2006	ELN	HP:0000485	Megalocornea
2006	ELN	HP:0001792	Small nail
2006	ELN	HP:0000464	Abnormality of the neck
2006	ELN	HP:0000463	Anteverted nares
2006	ELN	HP:0012450	Chronic constipation
2006	ELN	HP:0000455	Broad nasal tip
2006	ELN	HP:0012433	Abnormal social behavior
2006	ELN	HP:0011106	Hypovolemia
2006	ELN	HP:0001763	Pes planus
2006	ELN	HP:0000444	Convex nasal ridge
2006	ELN	HP:0000411	Protruding ear
2006	ELN	HP:0001762	Talipes equinovarus
2006	ELN	HP:0000431	Wide nasal bridge
2006	ELN	HP:0000518	Cataract
2006	ELN	HP:0000519	Developmental cataract
2006	ELN	HP:0000525	Abnormality iris morphology
2006	ELN	HP:0001822	Hallux valgus
2006	ELN	HP:0000508	Ptosis
2006	ELN	HP:0000505	Visual impairment
2006	ELN	HP:0000501	Glaucoma
2006	ELN	HP:0001800	Hypoplastic toenails
2006	ELN	HP:0000581	Blepharophimosis
2006	ELN	HP:0011220	Prominent forehead
2006	ELN	HP:0001884	Talipes calcaneovalgus
2006	ELN	HP:0012537	Food intolerance
2006	ELN	HP:0000539	Abnormality of refraction
2006	ELN	HP:0000545	Myopia
2009	EML1	HP:0010864	Intellectual disability, severe
2009	EML1	HP:0001274	Agenesis of corpus callosum
2009	EML1	HP:0001250	Seizure
2009	EML1	HP:0001263	Global developmental delay
2009	EML1	HP:0001257	Spasticity
2009	EML1	HP:0001357	Plagiocephaly
2009	EML1	HP:0032409	Subcortical band heterotopia
2009	EML1	HP:0000007	Autosomal recessive inheritance
2009	EML1	HP:0002119	Ventriculomegaly
2009	EML1	HP:0002126	Polymicrogyria
2009	EML1	HP:0003577	Congenital onset
2009	EML1	HP:0002282	Gray matter heterotopia
2009	EML1	HP:0002360	Sleep disturbance
2009	EML1	HP:0006956	Lateral ventricle dilatation
2009	EML1	HP:0012736	Profound global developmental delay
2009	EML1	HP:0000256	Macrocephaly
2009	EML1	HP:0000238	Hydrocephalus
2009	EML1	HP:0025517	Hypoplastic hippocampus
2010	EMD	HP:0002486	Myotonia
2010	EMD	HP:0001288	Gait disturbance
2010	EMD	HP:0001252	Hypotonia
2010	EMD	HP:0001249	Intellectual disability
2010	EMD	HP:0002515	Waddling gait
2010	EMD	HP:0002505	Loss of ambulation
2010	EMD	HP:0003805	Rimmed vacuoles
2010	EMD	HP:0001387	Joint stiffness
2010	EMD	HP:0002650	Scoliosis
2010	EMD	HP:0001315	Reduced tendon reflexes
2010	EMD	HP:0008994	Proximal muscle weakness in lower limbs
2010	EMD	HP:0008997	Proximal muscle weakness in upper limbs
2010	EMD	HP:0008948	Proximal upper limb amyotrophy
2010	EMD	HP:0008956	Proximal lower limb amyotrophy
2010	EMD	HP:0001419	X-linked recessive inheritance
2010	EMD	HP:0002747	Respiratory insufficiency due to muscle weakness
2010	EMD	HP:0003307	Hyperlordosis
2010	EMD	HP:0003306	Spinal rigidity
2010	EMD	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
2010	EMD	HP:0011807	Type 1 muscle fiber atrophy
2010	EMD	HP:0033122	Absent P wave
2010	EMD	HP:0011705	First degree atrioventricular block
2010	EMD	HP:0002155	Hypertriglyceridemia
2010	EMD	HP:0003458	EMG: myopathic abnormalities
2010	EMD	HP:0003418	Back pain
2010	EMD	HP:0003691	Scapular winging
2010	EMD	HP:0003677	Slowly progressive
2010	EMD	HP:0003621	Juvenile onset
2010	EMD	HP:0001962	Palpitations
2010	EMD	HP:0000767	Pectus excavatum
2010	EMD	HP:0011463	Childhood onset
2010	EMD	HP:0009125	Lipodystrophy
2010	EMD	HP:0003198	Myopathy
2010	EMD	HP:0000912	Sprengel anomaly
2010	EMD	HP:0003141	Increased LDL cholesterol concentration
2010	EMD	HP:0003236	Elevated circulating creatine kinase concentration
2010	EMD	HP:0003202	Skeletal muscle atrophy
2010	EMD	HP:0008064	Ichthyosis
2010	EMD	HP:0005115	Supraventricular arrhythmia
2010	EMD	HP:0002808	Kyphosis
2010	EMD	HP:0006380	Knee flexion contracture
2010	EMD	HP:0030051	Tip-toe gait
2010	EMD	HP:0001513	Obesity
2010	EMD	HP:0001605	Vocal cord paralysis
2010	EMD	HP:0005155	Ventricular escape rhythm
2010	EMD	HP:0001692	Atrial arrhythmia
2010	EMD	HP:0030117	Absent muscle fiber emerin
2010	EMD	HP:0001678	Atrioventricular block
2010	EMD	HP:0001645	Sudden cardiac death
2010	EMD	HP:0002987	Elbow flexion contracture
2010	EMD	HP:0001639	Hypertrophic cardiomyopathy
2010	EMD	HP:0000464	Abnormality of the neck
2010	EMD	HP:0000470	Short neck
2010	EMD	HP:0001771	Achilles tendon contracture
2010	EMD	HP:0006785	Limb-girdle muscular dystrophy
2010	EMD	HP:0000508	Ptosis
2013	EMP2	HP:0003774	Stage 5 chronic kidney disease
2013	EMP2	HP:0002586	Peritonitis
2013	EMP2	HP:0000097	Focal segmental glomerulosclerosis
2013	EMP2	HP:0000093	Proteinuria
2013	EMP2	HP:0000007	Autosomal recessive inheritance
2013	EMP2	HP:0031266	Podocyte foot process effacement
2013	EMP2	HP:0000100	Nephrotic syndrome
2013	EMP2	HP:0002027	Abdominal pain
2013	EMP2	HP:0100539	Periorbital edema
2013	EMP2	HP:0011947	Respiratory tract infection
2013	EMP2	HP:0002315	Headache
2013	EMP2	HP:0012622	Chronic kidney disease
2013	EMP2	HP:0001967	Diffuse mesangial sclerosis
2013	EMP2	HP:0001945	Fever
2013	EMP2	HP:0003073	Hypoalbuminemia
2013	EMP2	HP:0000737	Irritability
2013	EMP2	HP:0000707	Abnormality of the nervous system
2013	EMP2	HP:0000969	Edema
2013	EMP2	HP:0031504	Foamy urine
2013	EMP2	HP:0012588	Steroid-resistant nephrotic syndrome
2013	EMP2	HP:0012579	Minimal change glomerulonephritis
2018	EMX2	HP:0001274	Agenesis of corpus callosum
2018	EMX2	HP:0002120	Cerebral cortical atrophy
2018	EMX2	HP:0010636	Schizencephaly
2019	EN1	HP:0001290	Generalized hypotonia
2019	EN1	HP:0001252	Hypotonia
2019	EN1	HP:0001388	Joint laxity
2019	EN1	HP:0000011	Neurogenic bladder
2019	EN1	HP:0000010	Recurrent urinary tract infections
2019	EN1	HP:0000007	Autosomal recessive inheritance
2019	EN1	HP:0000126	Hydronephrosis
2019	EN1	HP:0002754	Osteomyelitis
2019	EN1	HP:0031260	Triangular tibia
2019	EN1	HP:0009460	Aplasia of the 3rd finger
2019	EN1	HP:0003577	Congenital onset
2019	EN1	HP:0002365	Hypoplasia of the brainstem
2019	EN1	HP:0012642	Cerebellar agenesis
2019	EN1	HP:0000750	Delayed speech and language development
2019	EN1	HP:0030884	Gastrojejunal tube feeding in infancy
2019	EN1	HP:0000252	Microcephaly
2019	EN1	HP:0033977	Talar aplasia
2019	EN1	HP:0001537	Umbilical hernia
2019	EN1	HP:0001508	Failure to thrive
2019	EN1	HP:0011167	Focal tonic seizure
2019	EN1	HP:0032988	Persistent head lag
2019	EN1	HP:0001770	Toe syndactyly
2022	ENG	HP:0001123	Visual field defect
2022	ENG	HP:0002408	Cerebral arteriovenous malformation
2022	ENG	HP:0001269	Hemiparesis
2022	ENG	HP:0001250	Seizure
2022	ENG	HP:0001232	Nail bed telangiectasia
2022	ENG	HP:0002573	Hematochezia
2022	ENG	HP:0100896	Rectal polyposis
2022	ENG	HP:0006107	Fingerpad telangiectases
2022	ENG	HP:0007420	Spontaneous hematomas
2022	ENG	HP:0100858	Dilatation of celiac artery
2022	ENG	HP:0001217	Clubbing
2022	ENG	HP:0001399	Hepatic failure
2022	ENG	HP:0001394	Cirrhosis
2022	ENG	HP:0001342	Cerebral hemorrhage
2022	ENG	HP:0000006	Autosomal dominant inheritance
2022	ENG	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels
2022	ENG	HP:0002647	Aortic dissection
2022	ENG	HP:0002616	Aortic root aneurysm
2022	ENG	HP:0002629	Gastrointestinal arteriovenous malformation
2022	ENG	HP:0002626	Venous varicosities of celiac and mesenteric vessels
2022	ENG	HP:0002621	Atherosclerosis
2022	ENG	HP:0002604	Gastrointestinal telangiectasia
2022	ENG	HP:0012151	Hemothorax
2022	ENG	HP:0002707	Palate telangiectasia
2022	ENG	HP:0032542	Exacerbated by pregnancy
2022	ENG	HP:0001409	Portal hypertension
2022	ENG	HP:0002094	Dyspnea
2022	ENG	HP:0002092	Pulmonary arterial hypertension
2022	ENG	HP:0002091	Restrictive ventilatory defect
2022	ENG	HP:0002076	Migraine
2022	ENG	HP:0002040	Esophageal varix
2022	ENG	HP:0100585	Telangiectasia of the skin
2022	ENG	HP:0100579	Mucosal telangiectasiae
2022	ENG	HP:0002140	Ischemic stroke
2022	ENG	HP:0002138	Subarachnoid hemorrhage
2022	ENG	HP:0004783	Duodenal polyposis
2022	ENG	HP:0002105	Hemoptysis
2022	ENG	HP:0011934	Dilatation of mesenteric artery
2022	ENG	HP:0002170	Intracranial hemorrhage
2022	ENG	HP:0002239	Gastrointestinal hemorrhage
2022	ENG	HP:0002249	Melena
2022	ENG	HP:0002248	Hematemesis
2022	ENG	HP:0002204	Pulmonary embolism
2022	ENG	HP:0100784	Peripheral arteriovenous fistula
2022	ENG	HP:0100749	Chest pain
2022	ENG	HP:0100761	Visceral angiomatosis
2022	ENG	HP:0007029	Cerebral berry aneurysm
2022	ENG	HP:0001048	Cavernous hemangioma
2022	ENG	HP:0002390	Spinal arteriovenous malformation
2022	ENG	HP:0002363	Abnormal brainstem morphology
2022	ENG	HP:0001009	Telangiectasia
2022	ENG	HP:0001017	Anemic pallor
2022	ENG	HP:0002326	Transient ischemic attack
2022	ENG	HP:0100659	Abnormal cerebral vascular morphology
2022	ENG	HP:0200008	Intestinal polyposis
2022	ENG	HP:0001081	Cholelithiasis
2022	ENG	HP:0001082	Cholecystitis
2022	ENG	HP:0004936	Venous thrombosis
2022	ENG	HP:0000646	Amblyopia
2022	ENG	HP:0001935	Microcytic anemia
2022	ENG	HP:0001903	Anemia
2022	ENG	HP:0001901	Polycythemia
2022	ENG	HP:0004394	Multiple gastric polyps
2022	ENG	HP:0100026	Arteriovenous malformation
2022	ENG	HP:0000790	Hematuria
2022	ENG	HP:0000787	Nephrolithiasis
2022	ENG	HP:0004406	Spontaneous, recurrent epistaxis
2022	ENG	HP:0000822	Hypertension
2022	ENG	HP:0030877	Reduced FEV1/FVC ratio
2022	ENG	HP:0040223	Pulmonary hemorrhage
2022	ENG	HP:0000969	Edema
2022	ENG	HP:0000961	Cyanosis
2022	ENG	HP:0040197	Encephalomalacia
2022	ENG	HP:0012246	Oculomotor nerve palsy
2022	ENG	HP:0007763	Retinal telangiectasia
2022	ENG	HP:0000214	Lip telangiectasia
2022	ENG	HP:0002875	Exertional dyspnea
2022	ENG	HP:0000227	Tongue telangiectasia
2022	ENG	HP:0030049	Brain abscess
2022	ENG	HP:0001510	Growth delay
2022	ENG	HP:0011025	Abnormal cardiovascular system physiology
2022	ENG	HP:0005268	Miscarriage
2022	ENG	HP:0006574	Hepatic arteriovenous malformation
2022	ENG	HP:0006548	Pulmonary arteriovenous malformation
2022	ENG	HP:0005227	Adenomatous colonic polyposis
2022	ENG	HP:0001694	Right-to-left shunt
2022	ENG	HP:0001635	Congestive heart failure
2022	ENG	HP:0001722	High-output congestive heart failure
2022	ENG	HP:0000471	Gastrointestinal angiodysplasia
2022	ENG	HP:0030256	Small intestinal polyposis
2022	ENG	HP:0000434	Nasal mucosa telangiectasia
2022	ENG	HP:0012418	Hypoxemia
2022	ENG	HP:0025709	Intermediate young adult onset
2022	ENG	HP:0000421	Epistaxis
2022	ENG	HP:0000524	Conjunctival telangiectasia
2022	ENG	HP:0001892	Abnormal bleeding
2022	ENG	HP:0012518	Abnormal circle of Willis morphology
2027	ENO3	HP:0000007	Autosomal recessive inheritance
2027	ENO3	HP:0003326	Myalgia
2027	ENO3	HP:0003581	Adult onset
2027	ENO3	HP:0003546	Exercise intolerance
2027	ENO3	HP:0034633	Reduced muscle enolase activity
2027	ENO3	HP:0009051	Increased muscle glycogen content
2027	ENO3	HP:0003236	Elevated circulating creatine kinase concentration
2033	EP300	HP:0001181	Adducted thumb
2033	EP300	HP:0001159	Syndactyly
2033	EP300	HP:0001128	Trichiasis
2033	EP300	HP:0020206	Simple ear
2033	EP300	HP:0002414	Spina bifida
2033	EP300	HP:0003745	Sporadic
2033	EP300	HP:0025269	Panic attack
2033	EP300	HP:0001290	Generalized hypotonia
2033	EP300	HP:0001274	Agenesis of corpus callosum
2033	EP300	HP:0001273	Abnormal corpus callosum morphology
2033	EP300	HP:0001256	Intellectual disability, mild
2033	EP300	HP:0001250	Seizure
2033	EP300	HP:0001252	Hypotonia
2033	EP300	HP:0001249	Intellectual disability
2033	EP300	HP:0001263	Global developmental delay
2033	EP300	HP:0002588	Duodenal ulcer
2033	EP300	HP:0002566	Intestinal malrotation
2033	EP300	HP:0008752	Laryngeal cartilage malformation
2033	EP300	HP:0410263	Brain imaging abnormality
2033	EP300	HP:0100852	Abnormal fear/anxiety-related behavior
2033	EP300	HP:0008689	Bilateral cryptorchidism
2033	EP300	HP:0001212	Prominent fingertip pads
2033	EP300	HP:0002553	Highly arched eyebrow
2033	EP300	HP:0000077	Abnormality of the kidney
2033	EP300	HP:0000076	Vesicoureteral reflux
2033	EP300	HP:0000079	Abnormality of the urinary system
2033	EP300	HP:0001371	Flexion contracture
2033	EP300	HP:0001385	Hip dysplasia
2033	EP300	HP:0001388	Joint laxity
2033	EP300	HP:0001382	Joint hypermobility
2033	EP300	HP:0000047	Hypospadias
2033	EP300	HP:0000049	Shawl scrotum
2033	EP300	HP:0001347	Hyperreflexia
2033	EP300	HP:0002697	Parietal foramina
2033	EP300	HP:0000034	Hydrocele testis
2033	EP300	HP:0000028	Cryptorchidism
2033	EP300	HP:0008897	Postnatal growth retardation
2033	EP300	HP:0008872	Feeding difficulties in infancy
2033	EP300	HP:0006200	Widened distal phalanges
2033	EP300	HP:0002664	Neoplasm
2033	EP300	HP:0000010	Recurrent urinary tract infections
2033	EP300	HP:0001344	Absent speech
2033	EP300	HP:0000006	Autosomal dominant inheritance
2033	EP300	HP:0002650	Scoliosis
2033	EP300	HP:0000189	Narrow palate
2033	EP300	HP:0000160	Narrow mouth
2033	EP300	HP:0000175	Cleft palate
2033	EP300	HP:0006349	Agenesis of permanent teeth
2033	EP300	HP:0002705	High, narrow palate
2033	EP300	HP:0002700	Large foramen magnum
2033	EP300	HP:0006297	Enamel hypoplasia
2033	EP300	HP:0000119	Abnormality of the genitourinary system
2033	EP300	HP:0002788	Recurrent upper respiratory tract infections
2033	EP300	HP:0000126	Hydronephrosis
2033	EP300	HP:0031207	Hepatic hemangioma
2033	EP300	HP:0001428	Somatic mutation
2033	EP300	HP:0002750	Delayed skeletal maturation
2033	EP300	HP:0031251	Abnormal subclavian artery morphology
2033	EP300	HP:0002020	Gastroesophageal reflux
2033	EP300	HP:0002019	Constipation
2033	EP300	HP:0002002	Deep philtrum
2033	EP300	HP:0002000	Short columella
2033	EP300	HP:0002007	Frontal bossing
2033	EP300	HP:0003319	Abnormality of the cervical spine
2033	EP300	HP:0002098	Respiratory distress
2033	EP300	HP:0002099	Asthma
2033	EP300	HP:0002090	Pneumonia
2033	EP300	HP:0003396	Syringomyelia
2033	EP300	HP:0010442	Polydactyly
2033	EP300	HP:0008107	Plantar crease between first and second toes
2033	EP300	HP:0011917	Short 5th toe
2033	EP300	HP:0002183	Phonophobia
2033	EP300	HP:0002194	Delayed gross motor development
2033	EP300	HP:0002162	Low posterior hairline
2033	EP300	HP:0010562	Keloids
2033	EP300	HP:0003593	Infantile onset
2033	EP300	HP:0003577	Congenital onset
2033	EP300	HP:0002236	Frontal upsweep of hair
2033	EP300	HP:0100710	Impulsivity
2033	EP300	HP:0100716	Self-injurious behavior
2033	EP300	HP:0002219	Facial hypertrichosis
2033	EP300	HP:0002205	Recurrent respiratory infections
2033	EP300	HP:0009715	Papillary cystadenoma of the epididymis
2033	EP300	HP:0010674	Abnormality of the curvature of the vertebral column
2033	EP300	HP:0011968	Feeding difficulties
2033	EP300	HP:0010621	Cutaneous syndactyly of toes
2033	EP300	HP:0011947	Respiratory tract infection
2033	EP300	HP:0007099	Chiari type I malformation
2033	EP300	HP:0007086	Social and occupational deterioration
2033	EP300	HP:0001042	High axial triradius
2033	EP300	HP:0002370	Poor coordination
2033	EP300	HP:0002341	Cervical cord compression
2033	EP300	HP:0001007	Hirsutism
2033	EP300	HP:0002353	EEG abnormality
2033	EP300	HP:0002317	Unsteady gait
2033	EP300	HP:0008523	Posterior helix pit
2033	EP300	HP:0009834	Abnormal proximal phalanx morphology of the hand
2033	EP300	HP:0009836	Broad distal phalanx of finger
2033	EP300	HP:0100602	Preeclampsia
2033	EP300	HP:0010775	Vascular ring
2033	EP300	HP:0009778	Short thumb
2033	EP300	HP:0009765	Low hanging columella
2033	EP300	HP:0002311	Incoordination
2033	EP300	HP:0002308	Chiari malformation
2033	EP300	HP:0004209	Clinodactyly of the 5th finger
2033	EP300	HP:0010059	Broad hallux phalanx
2033	EP300	HP:0010066	Duplication of phalanx of hallux
2033	EP300	HP:0005584	Renal cell carcinoma
2033	EP300	HP:0000639	Nystagmus
2033	EP300	HP:0001956	Truncal obesity
2033	EP300	HP:0001909	Leukemia
2033	EP300	HP:0010051	Deviation of the hallux
2033	EP300	HP:0010055	Broad hallux
2033	EP300	HP:0011335	Frontal hirsutism
2033	EP300	HP:0000678	Dental crowding
2033	EP300	HP:0000695	Natal tooth
2033	EP300	HP:0000689	Dental malocclusion
2033	EP300	HP:0000670	Carious teeth
2033	EP300	HP:0011304	Broad thumb
2033	EP300	HP:0000668	Hypodontia
2033	EP300	HP:0001999	Abnormal facial shape
2033	EP300	HP:0004322	Short stature
2033	EP300	HP:0030680	Abnormality of cardiovascular system morphology
2033	EP300	HP:0003083	Dislocated radial head
2033	EP300	HP:0004383	Hypoplastic left heart
2033	EP300	HP:0031936	Delayed ability to walk
2033	EP300	HP:0012745	Short palpebral fissure
2033	EP300	HP:0000756	Agoraphobia
2033	EP300	HP:0000752	Hyperactivity
2033	EP300	HP:0000767	Pectus excavatum
2033	EP300	HP:0000733	Abnormal repetitive mannerisms
2033	EP300	HP:0000736	Short attention span
2033	EP300	HP:0000735	Impaired social interactions
2033	EP300	HP:0000750	Delayed speech and language development
2033	EP300	HP:0000742	Self-mutilation
2033	EP300	HP:0000718	Aggressive behavior
2033	EP300	HP:0000717	Autism
2033	EP300	HP:0000712	Emotional lability
2033	EP300	HP:0000729	Autistic behavior
2033	EP300	HP:0000722	Compulsive behaviors
2033	EP300	HP:0000708	Atypical behavior
2033	EP300	HP:0011470	Nasogastric tube feeding in infancy
2033	EP300	HP:0010105	Short first metatarsal
2033	EP300	HP:0012758	Neurodevelopmental delay
2033	EP300	HP:0000787	Nephrolithiasis
2033	EP300	HP:0005743	Avascular necrosis of the capital femoral epiphysis
2033	EP300	HP:0004411	Deviated nasal septum
2033	EP300	HP:0034227	Aortic isthmus hypoplasia
2033	EP300	HP:0005895	Radial deviation of thumb terminal phalanx
2033	EP300	HP:0030890	Hyperintensity of cerebral white matter on MRI
2033	EP300	HP:0003298	Spina bifida occulta
2033	EP300	HP:0010314	Premature thelarche
2033	EP300	HP:0000957	Cafe-au-lait spot
2033	EP300	HP:0000954	Single transverse palmar crease
2033	EP300	HP:0000932	Abnormal posterior cranial fossa morphology
2033	EP300	HP:0011682	Perimembranous ventricular septal defect
2033	EP300	HP:0000286	Epicanthus
2033	EP300	HP:0000278	Retrognathia
2033	EP300	HP:0000293	Full cheeks
2033	EP300	HP:0000294	Low anterior hairline
2033	EP300	HP:0000260	Wide anterior fontanel
2033	EP300	HP:0000270	Delayed cranial suture closure
2033	EP300	HP:0000273	Facial grimacing
2033	EP300	HP:0000252	Microcephaly
2033	EP300	HP:0000219	Thin upper lip vermilion
2033	EP300	HP:0000218	High palate
2033	EP300	HP:0001561	Polyhydramnios
2033	EP300	HP:0002891	Uterine leiomyosarcoma
2033	EP300	HP:0002858	Meningioma
2033	EP300	HP:0002870	Obstructive sleep apnea
2033	EP300	HP:0002869	Flared iliac wing
2033	EP300	HP:0002866	Hypoplastic iliac wing
2033	EP300	HP:0001508	Failure to thrive
2033	EP300	HP:0002835	Aspiration
2033	EP300	HP:0030047	Abnormal lateral ventricle morphology
2033	EP300	HP:0001518	Small for gestational age
2033	EP300	HP:0001511	Intrauterine growth retardation
2033	EP300	HP:0001510	Growth delay
2033	EP300	HP:0001513	Obesity
2033	EP300	HP:0011094	Increased overbite
2033	EP300	HP:0011087	Talon cusp
2033	EP300	HP:0011069	Supernumerary tooth
2033	EP300	HP:0000387	Absent earlobe
2033	EP300	HP:0012368	Flat face
2033	EP300	HP:0000388	Otitis media
2033	EP300	HP:0001601	Laryngomalacia
2033	EP300	HP:0000365	Hearing impairment
2033	EP300	HP:0000358	Posteriorly rotated ears
2033	EP300	HP:0000369	Low-set ears
2033	EP300	HP:0002999	Patellar dislocation
2033	EP300	HP:0001680	Coarctation of aorta
2033	EP300	HP:0000347	Micrognathia
2033	EP300	HP:0001650	Aortic valve stenosis
2033	EP300	HP:0000321	Square face
2033	EP300	HP:0000319	Smooth philtrum
2033	EP300	HP:0001647	Bicuspid aortic valve
2033	EP300	HP:0000316	Hypertelorism
2033	EP300	HP:0001643	Patent ductus arteriosus
2033	EP300	HP:0001642	Pulmonic stenosis
2033	EP300	HP:0000327	Hypoplasia of the maxilla
2033	EP300	HP:0001655	Patent foramen ovale
2033	EP300	HP:0001629	Ventricular septal defect
2033	EP300	HP:0001627	Abnormal heart morphology
2033	EP300	HP:0001631	Atrial septal defect
2033	EP300	HP:0001634	Mitral valve prolapse
2033	EP300	HP:0005301	Persistent left superior vena cava
2033	EP300	HP:0005374	Cellular immunodeficiency
2033	EP300	HP:0005363	Humoral immunodeficiency
2033	EP300	HP:0005306	Capillary hemangioma
2033	EP300	HP:0005322	Prominent nasal septum
2033	EP300	HP:0000407	Sensorineural hearing impairment
2033	EP300	HP:0000405	Conductive hearing impairment
2033	EP300	HP:0005280	Depressed nasal bridge
2033	EP300	HP:0000486	Strabismus
2033	EP300	HP:0031546	Cardiac conduction abnormality
2033	EP300	HP:0000478	Abnormality of the eye
2033	EP300	HP:0000494	Downslanted palpebral fissures
2033	EP300	HP:0000490	Deeply set eye
2033	EP300	HP:0012448	Delayed myelination
2033	EP300	HP:0012450	Chronic constipation
2033	EP300	HP:0001763	Pes planus
2033	EP300	HP:0000448	Prominent nose
2033	EP300	HP:0000444	Convex nasal ridge
2033	EP300	HP:0000446	Narrow nasal bridge
2033	EP300	HP:0001747	Accessory spleen
2033	EP300	HP:0001762	Talipes equinovarus
2033	EP300	HP:0000431	Wide nasal bridge
2033	EP300	HP:0006753	Neoplasm of the stomach
2033	EP300	HP:0006740	Transitional cell carcinoma of the bladder
2033	EP300	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
2033	EP300	HP:0030434	Pilomatrixoma
2033	EP300	HP:0005484	Secondary microcephaly
2033	EP300	HP:0000518	Cataract
2033	EP300	HP:0001845	Overlapping toe
2033	EP300	HP:0000527	Long eyelashes
2033	EP300	HP:0001852	Sandal gap
2033	EP300	HP:0000520	Proptosis
2033	EP300	HP:0000508	Ptosis
2033	EP300	HP:0000501	Glaucoma
2033	EP300	HP:0000582	Upslanted palpebral fissure
2033	EP300	HP:0000581	Blepharophimosis
2033	EP300	HP:0000579	Nasolacrimal duct obstruction
2033	EP300	HP:0011229	Broad eyebrow
2033	EP300	HP:0000589	Coloboma
2033	EP300	HP:0011220	Prominent forehead
2033	EP300	HP:0000559	Corneal scarring
2033	EP300	HP:0000574	Thick eyebrow
2033	EP300	HP:0000540	Hypermetropia
2034	EPAS1	HP:0008629	Pulsatile tinnitus
2034	EPAS1	HP:0025269	Panic attack
2034	EPAS1	HP:0001293	Cranial nerve compression
2034	EPAS1	HP:0002574	Episodic abdominal pain
2034	EPAS1	HP:0033644	Elevated circulating erythropoietin concentration
2034	EPAS1	HP:0000096	Glomerular sclerosis
2034	EPAS1	HP:0000093	Proteinuria
2034	EPAS1	HP:0001342	Cerebral hemorrhage
2034	EPAS1	HP:0002668	Paraganglioma
2034	EPAS1	HP:0001337	Tremor
2034	EPAS1	HP:0000006	Autosomal dominant inheritance
2034	EPAS1	HP:0002640	Hypertension associated with pheochromocytoma
2034	EPAS1	HP:0002625	Deep venous thrombosis
2034	EPAS1	HP:0031284	Flushing
2034	EPAS1	HP:0002018	Nausea
2034	EPAS1	HP:0003345	Elevated urinary norepinephrine
2034	EPAS1	HP:0011703	Sinus tachycardia
2034	EPAS1	HP:0010532	Paroxysmal vertigo
2034	EPAS1	HP:0003574	Positive regitine blocking test
2034	EPAS1	HP:0100749	Chest pain
2034	EPAS1	HP:0011979	Elevated urinary dopamine
2034	EPAS1	HP:0001069	Episodic hyperhidrosis
2034	EPAS1	HP:0002331	Recurrent paroxysmal headache
2034	EPAS1	HP:0001095	Hypertensive retinopathy
2034	EPAS1	HP:0003639	Elevated urinary epinephrine
2034	EPAS1	HP:0001962	Palpitations
2034	EPAS1	HP:0001900	Increased hemoglobin
2034	EPAS1	HP:0001901	Polycythemia
2034	EPAS1	HP:0003072	Hypercalcemia
2034	EPAS1	HP:0000740	Episodic paroxysmal anxiety
2034	EPAS1	HP:0011462	Young adult onset
2034	EPAS1	HP:0000790	Hematuria
2034	EPAS1	HP:0000980	Pallor
2034	EPAS1	HP:0000989	Pruritus
2034	EPAS1	HP:0002864	Paraganglioma of head and neck
2034	EPAS1	HP:0012378	Fatigue
2034	EPAS1	HP:0001605	Vocal cord paralysis
2034	EPAS1	HP:0001618	Dysphonia
2034	EPAS1	HP:0001635	Congestive heart failure
2034	EPAS1	HP:0000405	Conductive hearing impairment
2034	EPAS1	HP:0030248	Mesenteric venous thrombosis
2034	EPAS1	HP:0006748	Adrenal pheochromocytoma
2034	EPAS1	HP:0006737	Extraadrenal pheochromocytoma
2034	EPAS1	HP:0001824	Weight loss
2034	EPAS1	HP:0001899	Increased hematocrit
2035	EPB41	HP:0025143	Chills
2035	EPB41	HP:0008897	Postnatal growth retardation
2035	EPB41	HP:0000007	Autosomal recessive inheritance
2035	EPB41	HP:0000006	Autosomal dominant inheritance
2035	EPB41	HP:0002027	Abdominal pain
2035	EPB41	HP:0002007	Frontal bossing
2035	EPB41	HP:0004804	Congenital hemolytic anemia
2035	EPB41	HP:0001081	Cholelithiasis
2035	EPB41	HP:0005502	Increased red cell osmotic fragility
2035	EPB41	HP:0001945	Fever
2035	EPB41	HP:0001923	Reticulocytosis
2035	EPB41	HP:0004446	Stomatocytosis
2035	EPB41	HP:0004445	Elliptocytosis
2035	EPB41	HP:0004447	Poikilocytosis
2035	EPB41	HP:0003265	Neonatal hyperbilirubinemia
2035	EPB41	HP:0000980	Pallor
2035	EPB41	HP:0000952	Jaundice
2035	EPB41	HP:0006579	Prolonged neonatal jaundice
2035	EPB41	HP:0002904	Hyperbilirubinemia
2035	EPB41	HP:0001789	Hydrops fetalis
2035	EPB41	HP:0001744	Splenomegaly
2035	EPB41	HP:0001878	Hemolytic anemia
2035	EPB41	HP:0001877	Abnormal erythrocyte morphology
2036	EPB41L1	HP:0001181	Adducted thumb
2036	EPB41L1	HP:0001156	Brachydactyly
2036	EPB41L1	HP:0010864	Intellectual disability, severe
2036	EPB41L1	HP:0001252	Hypotonia
2036	EPB41L1	HP:0001263	Global developmental delay
2036	EPB41L1	HP:0008872	Feeding difficulties in infancy
2036	EPB41L1	HP:0000006	Autosomal dominant inheritance
2036	EPB41L1	HP:0002007	Frontal bossing
2036	EPB41L1	HP:0011800	Midface retrusion
2036	EPB41L1	HP:0040019	Finger clinodactyly
2036	EPB41L1	HP:0001511	Intrauterine growth retardation
2036	EPB41L1	HP:0012385	Camptodactyly
2036	EPB41L1	HP:0000365	Hearing impairment
2036	EPB41L1	HP:0000348	High forehead
2036	EPB41L1	HP:0000316	Hypertelorism
2036	EPB41L1	HP:0000322	Short philtrum
2036	EPB41L1	HP:0000490	Deeply set eye
2036	EPB41L1	HP:0001775	Tarsal osteovalgus
2038	EPB42	HP:0025143	Chills
2038	EPB42	HP:0001251	Ataxia
2038	EPB42	HP:0001324	Muscle weakness
2038	EPB42	HP:0000007	Autosomal recessive inheritance
2038	EPB42	HP:0002027	Abdominal pain
2038	EPB42	HP:0003326	Myalgia
2038	EPB42	HP:0011900	Hypofibrinogenemia
2038	EPB42	HP:0011893	Abnormal leukocyte count
2038	EPB42	HP:0011873	Abnormal platelet count
2038	EPB42	HP:0002240	Hepatomegaly
2038	EPB42	HP:0100724	Hypercoagulability
2038	EPB42	HP:0200042	Skin ulcer
2038	EPB42	HP:0001081	Cholelithiasis
2038	EPB42	HP:0005525	Spontaneous hemolytic crises
2038	EPB42	HP:0005502	Increased red cell osmotic fragility
2038	EPB42	HP:0001978	Extramedullary hematopoiesis
2038	EPB42	HP:0001945	Fever
2038	EPB42	HP:0001923	Reticulocytosis
2038	EPB42	HP:0001903	Anemia
2038	EPB42	HP:0001997	Gout
2038	EPB42	HP:0004444	Spherocytosis
2038	EPB42	HP:0003270	Abdominal distention
2038	EPB42	HP:0000980	Pallor
2038	EPB42	HP:0000952	Jaundice
2038	EPB42	HP:0040186	Maculopapular exanthema
2038	EPB42	HP:0025548	Increased mean corpuscular hemoglobin concentration
2038	EPB42	HP:0001510	Growth delay
2038	EPB42	HP:0002904	Hyperbilirubinemia
2038	EPB42	HP:0001723	Restrictive cardiomyopathy
2038	EPB42	HP:0001744	Splenomegaly
2038	EPB42	HP:0001878	Hemolytic anemia
2043	EPHA4	HP:0001257	Spasticity
2043	EPHA4	HP:0007373	Motor neuron atrophy
2043	EPHA4	HP:0007354	Amyotrophic lateral sclerosis
2043	EPHA4	HP:0025425	Laryngospasm
2043	EPHA4	HP:0002795	Abnormal respiratory system physiology
2043	EPHA4	HP:0002017	Nausea and vomiting
2043	EPHA4	HP:0003324	Generalized muscle weakness
2043	EPHA4	HP:0002094	Dyspnea
2043	EPHA4	HP:0003394	Muscle spasm
2043	EPHA4	HP:0003470	Paralysis
2043	EPHA4	HP:0002180	Neurodegeneration
2043	EPHA4	HP:0000739	Anxiety
2043	EPHA4	HP:0000716	Depression
2043	EPHA4	HP:0000712	Emotional lability
2043	EPHA4	HP:0000713	Agitation
2043	EPHA4	HP:0003202	Skeletal muscle atrophy
2043	EPHA4	HP:0000217	Xerostomia
2043	EPHA4	HP:0002878	Respiratory failure
2043	EPHA4	HP:0012378	Fatigue
2043	EPHA4	HP:0030196	Fatigable weakness of respiratory muscles
2043	EPHA4	HP:0030195	Fatigable weakness of swallowing muscles
2043	EPHA4	HP:0030192	Fatigable weakness of bulbar muscles
2043	EPHA4	HP:0012531	Pain
2048	EPHB2	HP:0000007	Autosomal recessive inheritance
2048	EPHB2	HP:0012125	Prostate cancer
2048	EPHB2	HP:0011873	Abnormal platelet count
2048	EPHB2	HP:0003540	Impaired platelet aggregation
2048	EPHB2	HP:0001933	Subcutaneous hemorrhage
2048	EPHB2	HP:0100006	Neoplasm of the central nervous system
2048	EPHB2	HP:0030138	Excessive bleeding from superficial cuts
2050	EPHB4	HP:0025104	Capillary malformation
2050	EPHB4	HP:0010880	Increased nuchal translucency
2050	EPHB4	HP:0002408	Cerebral arteriovenous malformation
2050	EPHB4	HP:0001250	Seizure
2050	EPHB4	HP:0003829	Typified by incomplete penetrance
2050	EPHB4	HP:0012027	Laryngeal edema
2050	EPHB4	HP:0007514	Edema of the dorsum of hands
2050	EPHB4	HP:0000011	Neurogenic bladder
2050	EPHB4	HP:0000006	Autosomal dominant inheritance
2050	EPHB4	HP:0002637	Cerebral ischemia
2050	EPHB4	HP:0002619	Varicose veins
2050	EPHB4	HP:0002617	Vascular dilatation
2050	EPHB4	HP:0031288	Cobblestone-like hyperkeratosis
2050	EPHB4	HP:0002732	Lymph node hypoplasia
2050	EPHB4	HP:0100539	Periorbital edema
2050	EPHB4	HP:0002098	Respiratory distress
2050	EPHB4	HP:0002076	Migraine
2050	EPHB4	HP:0100598	Pulmonary edema
2050	EPHB4	HP:0003593	Infantile onset
2050	EPHB4	HP:0003577	Congenital onset
2050	EPHB4	HP:0003550	Predominantly lower limb lymphedema
2050	EPHB4	HP:0002202	Pleural effusion
2050	EPHB4	HP:0100763	Abnormality of the lymphatic system
2050	EPHB4	HP:0100784	Peripheral arteriovenous fistula
2050	EPHB4	HP:0020073	Hypopigmented macule
2050	EPHB4	HP:0001028	Hemangioma
2050	EPHB4	HP:0001009	Telangiectasia
2050	EPHB4	HP:0001004	Lymphedema
2050	EPHB4	HP:0002315	Headache
2050	EPHB4	HP:0100659	Abnormal cerebral vascular morphology
2050	EPHB4	HP:0100658	Cellulitis
2050	EPHB4	HP:0200042	Skin ulcer
2050	EPHB4	HP:0200041	Skin erosion
2050	EPHB4	HP:0200058	Angiosarcoma
2050	EPHB4	HP:0010781	Skin dimple
2050	EPHB4	HP:0010741	Pedal edema
2050	EPHB4	HP:0004947	Arteriovenous fistula
2050	EPHB4	HP:0001903	Anemia
2050	EPHB4	HP:0004302	Functional motor deficit
2050	EPHB4	HP:0012733	Macule
2050	EPHB4	HP:0100026	Arteriovenous malformation
2050	EPHB4	HP:0009127	Abnormality of the musculature of the limbs
2050	EPHB4	HP:0030713	Vein of Galen aneurysmal malformation
2050	EPHB4	HP:0003270	Abdominal distention
2050	EPHB4	HP:0000996	Facial capillary hemangioma
2050	EPHB4	HP:0010310	Chylothorax
2050	EPHB4	HP:0000987	Atypical scarring of skin
2050	EPHB4	HP:0000969	Edema
2050	EPHB4	HP:0000282	Facial edema
2050	EPHB4	HP:0000238	Hydrocephalus
2050	EPHB4	HP:0001581	Recurrent skin infections
2050	EPHB4	HP:0001541	Ascites
2050	EPHB4	HP:0002849	Absence of lymph node germinal center
2050	EPHB4	HP:0012398	Peripheral edema
2050	EPHB4	HP:0001698	Pericardial effusion
2050	EPHB4	HP:0001627	Abnormal heart morphology
2050	EPHB4	HP:0001635	Congestive heart failure
2050	EPHB4	HP:0001631	Atrial septal defect
2050	EPHB4	HP:0001722	High-output congestive heart failure
2050	EPHB4	HP:0001790	Nonimmune hydrops fetalis
2050	EPHB4	HP:0000421	Epistaxis
2050	EPHB4	HP:0005406	Recurrent bacterial skin infections
2050	EPHB4	HP:0011276	Vascular skin abnormality
2050	EPHB4	HP:0001892	Abnormal bleeding
2053	EPHX2	HP:0001114	Xanthelasma
2053	EPHX2	HP:0010874	Tendon xanthomatosis
2053	EPHX2	HP:0000007	Autosomal recessive inheritance
2053	EPHX2	HP:0000006	Autosomal dominant inheritance
2053	EPHX2	HP:0001084	Corneal arcus
2053	EPHX2	HP:0003141	Increased LDL cholesterol concentration
2053	EPHX2	HP:0001677	Coronary artery atherosclerosis
2055	CLN8	HP:0001272	Cerebellar atrophy
2055	CLN8	HP:0001268	Mental deterioration
2055	CLN8	HP:0001250	Seizure
2055	CLN8	HP:0001251	Ataxia
2055	CLN8	HP:0001249	Intellectual disability
2055	CLN8	HP:0001263	Global developmental delay
2055	CLN8	HP:0002540	Inability to walk
2055	CLN8	HP:0002510	Spastic tetraplegia
2055	CLN8	HP:0000007	Autosomal recessive inheritance
2055	CLN8	HP:0001336	Myoclonus
2055	CLN8	HP:0002015	Dysphagia
2055	CLN8	HP:0100543	Cognitive impairment
2055	CLN8	HP:0002069	Bilateral tonic-clonic seizure
2055	CLN8	HP:0002066	Gait ataxia
2055	CLN8	HP:0002074	Increased neuronal autofluorescent lipopigment
2055	CLN8	HP:0002059	Cerebral atrophy
2055	CLN8	HP:0002123	Generalized myoclonic seizure
2055	CLN8	HP:0002167	Abnormality of speech or vocalization
2055	CLN8	HP:0002384	Focal impaired awareness seizure
2055	CLN8	HP:0003698	Difficulty standing
2055	CLN8	HP:0002359	Frequent falls
2055	CLN8	HP:0002376	Developmental regression
2055	CLN8	HP:0002371	Loss of speech
2055	CLN8	HP:0002353	EEG abnormality
2055	CLN8	HP:0003677	Slowly progressive
2055	CLN8	HP:0002317	Unsteady gait
2055	CLN8	HP:0002333	Motor deterioration
2055	CLN8	HP:0003657	Granular osmiophilic deposits (GROD) in cells
2055	CLN8	HP:0002312	Clumsiness
2055	CLN8	HP:0030455	Abnormality of pattern visual evoked potentials
2055	CLN8	HP:0012690	T2 hypointense thalamus
2055	CLN8	HP:0000737	Irritability
2055	CLN8	HP:0000750	Delayed speech and language development
2055	CLN8	HP:0000711	Restlessness
2055	CLN8	HP:0000726	Dementia
2055	CLN8	HP:0000729	Autistic behavior
2055	CLN8	HP:0000708	Atypical behavior
2055	CLN8	HP:0011471	Gastrostomy tube feeding in infancy
2055	CLN8	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
2055	CLN8	HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material
2055	CLN8	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
2055	CLN8	HP:0030890	Hyperintensity of cerebral white matter on MRI
2055	CLN8	HP:0033044	Motor regression
2055	CLN8	HP:0005268	Miscarriage
2055	CLN8	HP:0011198	EEG with generalized epileptiform discharges
2055	CLN8	HP:0000529	Progressive visual loss
2055	CLN8	HP:0000505	Visual impairment
2055	CLN8	HP:0011203	EEG with abnormally slow frequencies
2055	CLN8	HP:0000550	Undetectable electroretinogram
2055	CLN8	HP:0000543	Optic disc pallor
2056	EPO	HP:0033644	Elevated circulating erythropoietin concentration
2056	EPO	HP:0000007	Autosomal recessive inheritance
2056	EPO	HP:0000006	Autosomal dominant inheritance
2056	EPO	HP:0003593	Infantile onset
2056	EPO	HP:0001900	Increased hemoglobin
2056	EPO	HP:0001901	Polycythemia
2056	EPO	HP:0033074	Steroid-responsive anemia
2056	EPO	HP:0012410	Pure red cell aplasia
2056	EPO	HP:0001899	Increased hematocrit
2057	EPOR	HP:0001342	Cerebral hemorrhage
2057	EPOR	HP:0000006	Autosomal dominant inheritance
2057	EPOR	HP:0002641	Peripheral thrombosis
2057	EPOR	HP:0002027	Abdominal pain
2057	EPOR	HP:0002094	Dyspnea
2057	EPOR	HP:0011902	Abnormal hemoglobin
2057	EPOR	HP:0001050	Plethora
2057	EPOR	HP:0002321	Vertigo
2057	EPOR	HP:0002315	Headache
2057	EPOR	HP:0004936	Venous thrombosis
2057	EPOR	HP:0001907	Thromboembolism
2057	EPOR	HP:0001900	Increased hemoglobin
2057	EPOR	HP:0001901	Polycythemia
2057	EPOR	HP:0012735	Cough
2057	EPOR	HP:0000822	Hypertension
2057	EPOR	HP:0000989	Pruritus
2057	EPOR	HP:0002829	Arthralgia
2057	EPOR	HP:0002875	Exertional dyspnea
2057	EPOR	HP:0012378	Fatigue
2057	EPOR	HP:0001658	Myocardial infarction
2057	EPOR	HP:0001744	Splenomegaly
2057	EPOR	HP:0000421	Epistaxis
2057	EPOR	HP:0001892	Abnormal bleeding
2057	EPOR	HP:0001899	Increased hematocrit
2057	EPOR	HP:0001898	Increased red blood cell mass
2058	EPRS1	HP:0007256	Abnormal pyramidal sign
2058	EPRS1	HP:0002415	Leukodystrophy
2058	EPRS1	HP:0001272	Cerebellar atrophy
2058	EPRS1	HP:0001270	Motor delay
2058	EPRS1	HP:0001250	Seizure
2058	EPRS1	HP:0001251	Ataxia
2058	EPRS1	HP:0001260	Dysarthria
2058	EPRS1	HP:0001263	Global developmental delay
2058	EPRS1	HP:0001257	Spasticity
2058	EPRS1	HP:0002505	Loss of ambulation
2058	EPRS1	HP:0001332	Dystonia
2058	EPRS1	HP:0000007	Autosomal recessive inheritance
2058	EPRS1	HP:0002015	Dysphagia
2058	EPRS1	HP:0002080	Intention tremor
2058	EPRS1	HP:0002079	Hypoplasia of the corpus callosum
2058	EPRS1	HP:0002059	Cerebral atrophy
2058	EPRS1	HP:0003429	CNS hypomyelination
2058	EPRS1	HP:0010528	Prosopagnosia
2058	EPRS1	HP:0003593	Infantile onset
2058	EPRS1	HP:0011968	Feeding difficulties
2058	EPRS1	HP:0003510	Severe short stature
2058	EPRS1	HP:0002376	Developmental regression
2058	EPRS1	HP:0003676	Progressive
2058	EPRS1	HP:0033454	Tube feeding
2058	EPRS1	HP:0002305	Athetosis
2058	EPRS1	HP:0003621	Juvenile onset
2058	EPRS1	HP:0000639	Nystagmus
2058	EPRS1	HP:0000646	Amblyopia
2058	EPRS1	HP:0000648	Optic atrophy
2058	EPRS1	HP:0011463	Childhood onset
2058	EPRS1	HP:0034332	Cognitive regression
2058	EPRS1	HP:0033044	Motor regression
2058	EPRS1	HP:0000252	Microcephaly
2058	EPRS1	HP:0001508	Failure to thrive
2058	EPRS1	HP:0000407	Sensorineural hearing impairment
2058	EPRS1	HP:0000529	Progressive visual loss
2058	EPRS1	HP:0000572	Visual loss
2058	EPRS1	HP:0000540	Hypermetropia
2059	EPS8	HP:0000007	Autosomal recessive inheritance
2059	EPS8	HP:0003577	Congenital onset
2059	EPS8	HP:0012715	Profound hearing impairment
2064	ERBB2	HP:0001181	Adducted thumb
2064	ERBB2	HP:0100806	Sepsis
2064	ERBB2	HP:0001249	Intellectual disability
2064	ERBB2	HP:0000007	Autosomal recessive inheritance
2064	ERBB2	HP:0000006	Autosomal dominant inheritance
2064	ERBB2	HP:0012174	Glioblastoma multiforme
2064	ERBB2	HP:0012126	Stomach cancer
2064	ERBB2	HP:0410067	Increased level of L-fucose in urine
2064	ERBB2	HP:0001428	Somatic mutation
2064	ERBB2	HP:0002019	Constipation
2064	ERBB2	HP:0002017	Nausea and vomiting
2064	ERBB2	HP:0002027	Abdominal pain
2064	ERBB2	HP:0002014	Diarrhea
2064	ERBB2	HP:0003477	Peripheral axonal neuropathy
2064	ERBB2	HP:0009592	Astrocytoma
2064	ERBB2	HP:0003593	Infantile onset
2064	ERBB2	HP:0002251	Aganglionic megacolon
2064	ERBB2	HP:0200008	Intestinal polyposis
2064	ERBB2	HP:0100621	Dysgerminoma
2064	ERBB2	HP:0004322	Short stature
2064	ERBB2	HP:0003002	Breast carcinoma
2064	ERBB2	HP:0100031	Neoplasm of the thyroid gland
2064	ERBB2	HP:0012719	Functional abnormality of the gastrointestinal tract
2064	ERBB2	HP:0030078	Lung adenocarcinoma
2064	ERBB2	HP:0002888	Ependymoma
2064	ERBB2	HP:0001531	Failure to thrive in infancy
2064	ERBB2	HP:0005214	Intestinal obstruction
2064	ERBB2	HP:0006519	Alveolar cell carcinoma
2064	ERBB2	HP:0000407	Sensorineural hearing impairment
2064	ERBB2	HP:0012450	Chronic constipation
2064	ERBB2	HP:0001762	Talipes equinovarus
2064	ERBB2	HP:0011284	Short-segment aganglionic megacolon
2064	ERBB2	HP:0006774	Ovarian papillary adenocarcinoma
2064	ERBB2	HP:0001824	Weight loss
2064	ERBB2	HP:0000508	Ptosis
2064	ERBB2	HP:0030358	Non-small cell lung carcinoma
2065	ERBB3	HP:0001181	Adducted thumb
2065	ERBB3	HP:0002495	Impaired vibratory sensation
2065	ERBB3	HP:0100806	Sepsis
2065	ERBB3	HP:0001284	Areflexia
2065	ERBB3	HP:0001249	Intellectual disability
2065	ERBB3	HP:0001260	Dysarthria
2065	ERBB3	HP:0002574	Episodic abdominal pain
2065	ERBB3	HP:0002566	Intestinal malrotation
2065	ERBB3	HP:0003829	Typified by incomplete penetrance
2065	ERBB3	HP:0000007	Autosomal recessive inheritance
2065	ERBB3	HP:0000006	Autosomal dominant inheritance
2065	ERBB3	HP:0032466	Aplasia of the olfactory bulb
2065	ERBB3	HP:0012132	Erythroid hyperplasia
2065	ERBB3	HP:0000126	Hydronephrosis
2065	ERBB3	HP:0002019	Constipation
2065	ERBB3	HP:0002017	Nausea and vomiting
2065	ERBB3	HP:0002027	Abdominal pain
2065	ERBB3	HP:0002014	Diarrhea
2065	ERBB3	HP:0002013	Vomiting
2065	ERBB3	HP:0002066	Gait ataxia
2065	ERBB3	HP:0002240	Hepatomegaly
2065	ERBB3	HP:0002253	Colonic diverticula
2065	ERBB3	HP:0002251	Aganglionic megacolon
2065	ERBB3	HP:0004828	Refractory anemia with ringed sideroblasts
2065	ERBB3	HP:0004808	Acute myeloid leukemia
2065	ERBB3	HP:0010831	Impaired proprioception
2065	ERBB3	HP:0200008	Intestinal polyposis
2065	ERBB3	HP:0009830	Peripheral neuropathy
2065	ERBB3	HP:0002304	Akinesia
2065	ERBB3	HP:0001909	Leukemia
2065	ERBB3	HP:0001903	Anemia
2065	ERBB3	HP:0004322	Short stature
2065	ERBB3	HP:0004389	Intestinal pseudo-obstruction
2065	ERBB3	HP:0100031	Neoplasm of the thyroid gland
2065	ERBB3	HP:0012719	Functional abnormality of the gastrointestinal tract
2065	ERBB3	HP:0003202	Skeletal muscle atrophy
2065	ERBB3	HP:0000969	Edema
2065	ERBB3	HP:0002804	Arthrogryposis multiplex congenita
2065	ERBB3	HP:0002878	Respiratory failure
2065	ERBB3	HP:0001561	Polyhydramnios
2065	ERBB3	HP:0001558	Decreased fetal movement
2065	ERBB3	HP:0001531	Failure to thrive in infancy
2065	ERBB3	HP:0005249	Functional intestinal obstruction
2065	ERBB3	HP:0005214	Intestinal obstruction
2065	ERBB3	HP:0000365	Hearing impairment
2065	ERBB3	HP:0011003	High myopia
2065	ERBB3	HP:0012332	Abnormal autonomic nervous system physiology
2065	ERBB3	HP:0000347	Micrognathia
2065	ERBB3	HP:0001644	Dilated cardiomyopathy
2065	ERBB3	HP:0001629	Ventricular septal defect
2065	ERBB3	HP:0007964	Degenerative vitreoretinopathy
2065	ERBB3	HP:0000407	Sensorineural hearing impairment
2065	ERBB3	HP:0000413	Atresia of the external auditory canal
2065	ERBB3	HP:0001744	Splenomegaly
2065	ERBB3	HP:0001824	Weight loss
2065	ERBB3	HP:0000508	Ptosis
2065	ERBB3	HP:0001873	Thrombocytopenia
2066	ERBB4	HP:0001257	Spasticity
2066	ERBB4	HP:0007373	Motor neuron atrophy
2066	ERBB4	HP:0007354	Amyotrophic lateral sclerosis
2066	ERBB4	HP:0002505	Loss of ambulation
2066	ERBB4	HP:0000006	Autosomal dominant inheritance
2066	ERBB4	HP:0025425	Laryngospasm
2066	ERBB4	HP:0002795	Abnormal respiratory system physiology
2066	ERBB4	HP:0002747	Respiratory insufficiency due to muscle weakness
2066	ERBB4	HP:0002017	Nausea and vomiting
2066	ERBB4	HP:0003324	Generalized muscle weakness
2066	ERBB4	HP:0002094	Dyspnea
2066	ERBB4	HP:0003394	Muscle spasm
2066	ERBB4	HP:0003470	Paralysis
2066	ERBB4	HP:0002180	Neurodegeneration
2066	ERBB4	HP:0003596	Middle age onset
2066	ERBB4	HP:0003584	Late onset
2066	ERBB4	HP:0000739	Anxiety
2066	ERBB4	HP:0000716	Depression
2066	ERBB4	HP:0000712	Emotional lability
2066	ERBB4	HP:0000713	Agitation
2066	ERBB4	HP:0000726	Dementia
2066	ERBB4	HP:0003202	Skeletal muscle atrophy
2066	ERBB4	HP:0000217	Xerostomia
2066	ERBB4	HP:0002878	Respiratory failure
2066	ERBB4	HP:0012378	Fatigue
2066	ERBB4	HP:0030196	Fatigable weakness of respiratory muscles
2066	ERBB4	HP:0030195	Fatigable weakness of swallowing muscles
2066	ERBB4	HP:0030192	Fatigable weakness of bulbar muscles
2066	ERBB4	HP:0012531	Pain
2067	ERCC1	HP:0001181	Adducted thumb
2067	ERCC1	HP:0009879	Simplified gyral pattern
2067	ERCC1	HP:0001276	Hypertonia
2067	ERCC1	HP:0001288	Gait disturbance
2067	ERCC1	HP:0001250	Seizure
2067	ERCC1	HP:0001252	Hypotonia
2067	ERCC1	HP:0001251	Ataxia
2067	ERCC1	HP:0001249	Intellectual disability
2067	ERCC1	HP:0001263	Global developmental delay
2067	ERCC1	HP:0001239	Wrist flexion contracture
2067	ERCC1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2067	ERCC1	HP:0007346	Subcortical white matter calcifications
2067	ERCC1	HP:0010978	Abnormality of immune system physiology
2067	ERCC1	HP:0002545	Patchy demyelination of subcortical white matter
2067	ERCC1	HP:0002514	Cerebral calcification
2067	ERCC1	HP:0002509	Limb hypertonia
2067	ERCC1	HP:0003819	Death in childhood
2067	ERCC1	HP:0000078	Abnormality of the genital system
2067	ERCC1	HP:0001371	Flexion contracture
2067	ERCC1	HP:0001387	Joint stiffness
2067	ERCC1	HP:0001348	Brisk reflexes
2067	ERCC1	HP:0001347	Hyperreflexia
2067	ERCC1	HP:0000026	Male hypogonadism
2067	ERCC1	HP:0000028	Cryptorchidism
2067	ERCC1	HP:0008872	Feeding difficulties in infancy
2067	ERCC1	HP:0000007	Autosomal recessive inheritance
2067	ERCC1	HP:0002650	Scoliosis
2067	ERCC1	HP:0001321	Cerebellar hypoplasia
2067	ERCC1	HP:0001315	Reduced tendon reflexes
2067	ERCC1	HP:0000135	Hypogonadism
2067	ERCC1	HP:0006334	Hypoplasia of the primary teeth
2067	ERCC1	HP:0006313	Widely spaced primary teeth
2067	ERCC1	HP:0007633	Bilateral microphthalmos
2067	ERCC1	HP:0008936	Axial hypotonia
2067	ERCC1	HP:0006297	Enamel hypoplasia
2067	ERCC1	HP:0002751	Kyphoscoliosis
2067	ERCC1	HP:0002061	Lower limb spasticity
2067	ERCC1	HP:0010455	Steep acetabular roof
2067	ERCC1	HP:0002120	Cerebral cortical atrophy
2067	ERCC1	HP:0002126	Polymicrogyria
2067	ERCC1	HP:0002172	Postural instability
2067	ERCC1	HP:0100490	Camptodactyly of finger
2067	ERCC1	HP:0003593	Infantile onset
2067	ERCC1	HP:0003577	Congenital onset
2067	ERCC1	HP:0002240	Hepatomegaly
2067	ERCC1	HP:0001034	Hypermelanotic macule
2067	ERCC1	HP:0002355	Difficulty walking
2067	ERCC1	HP:0002353	EEG abnormality
2067	ERCC1	HP:0009830	Peripheral neuropathy
2067	ERCC1	HP:0100699	Scarring
2067	ERCC1	HP:0000639	Nystagmus
2067	ERCC1	HP:0000648	Optic atrophy
2067	ERCC1	HP:0000613	Photophobia
2067	ERCC1	HP:0011344	Severe global developmental delay
2067	ERCC1	HP:0000680	Delayed eruption of primary teeth
2067	ERCC1	HP:0000674	Anodontia
2067	ERCC1	HP:0001999	Abnormal facial shape
2067	ERCC1	HP:0004325	Decreased body weight
2067	ERCC1	HP:0004322	Short stature
2067	ERCC1	HP:0003083	Dislocated radial head
2067	ERCC1	HP:0003015	Flared metaphysis
2067	ERCC1	HP:0012758	Neurodevelopmental delay
2067	ERCC1	HP:0003100	Slender long bone
2067	ERCC1	HP:0000925	Abnormality of the vertebral column
2067	ERCC1	HP:0005830	Flexion contracture of toe
2067	ERCC1	HP:0000992	Cutaneous photosensitivity
2067	ERCC1	HP:0007703	Abnormality of retinal pigmentation
2067	ERCC1	HP:0000276	Long face
2067	ERCC1	HP:0005105	Abnormal nasal morphology
2067	ERCC1	HP:0002827	Hip dislocation
2067	ERCC1	HP:0002808	Kyphosis
2067	ERCC1	HP:0002804	Arthrogryposis multiplex congenita
2067	ERCC1	HP:0006380	Knee flexion contracture
2067	ERCC1	HP:0000252	Microcephaly
2067	ERCC1	HP:0000232	Everted lower lip vermilion
2067	ERCC1	HP:0001531	Failure to thrive in infancy
2067	ERCC1	HP:0001522	Death in infancy
2067	ERCC1	HP:0001511	Intrauterine growth retardation
2067	ERCC1	HP:0000365	Hearing impairment
2067	ERCC1	HP:0000358	Posteriorly rotated ears
2067	ERCC1	HP:0000369	Low-set ears
2067	ERCC1	HP:0000347	Micrognathia
2067	ERCC1	HP:0000331	Short chin
2067	ERCC1	HP:0002987	Elbow flexion contracture
2067	ERCC1	HP:0000322	Short philtrum
2067	ERCC1	HP:0001627	Abnormal heart morphology
2067	ERCC1	HP:0000303	Mandibular prognathia
2067	ERCC1	HP:0005328	Progeroid facial appearance
2067	ERCC1	HP:0000407	Sensorineural hearing impairment
2067	ERCC1	HP:0000400	Macrotia
2067	ERCC1	HP:0000486	Strabismus
2067	ERCC1	HP:0000479	Abnormal retinal morphology
2067	ERCC1	HP:0000490	Deeply set eye
2067	ERCC1	HP:0000470	Short neck
2067	ERCC1	HP:0000431	Wide nasal bridge
2067	ERCC1	HP:0000426	Prominent nasal bridge
2067	ERCC1	HP:0005487	Prominent metopic ridge
2067	ERCC1	HP:0005458	Premature closure of fontanelles
2067	ERCC1	HP:0000518	Cataract
2067	ERCC1	HP:0000519	Developmental cataract
2067	ERCC1	HP:0000528	Anophthalmia
2067	ERCC1	HP:0001838	Rocker bottom foot
2067	ERCC1	HP:0000509	Conjunctivitis
2067	ERCC1	HP:0000505	Visual impairment
2067	ERCC1	HP:0000581	Blepharophimosis
2067	ERCC1	HP:0000554	Uveitis
2067	ERCC1	HP:0000568	Microphthalmia
2067	ERCC1	HP:0001883	Talipes
2068	ERCC2	HP:0003777	Pili torti
2068	ERCC2	HP:0008619	Bilateral sensorineural hearing impairment
2068	ERCC2	HP:0001197	Abnormality of prenatal development or birth
2068	ERCC2	HP:0410219	Hypoplasia of mandible relative to maxilla
2068	ERCC2	HP:0007266	Cerebral dysmyelination
2068	ERCC2	HP:0007256	Abnormal pyramidal sign
2068	ERCC2	HP:0009886	Trichorrhexis nodosa
2068	ERCC2	HP:0001290	Generalized hypotonia
2068	ERCC2	HP:0001276	Hypertonia
2068	ERCC2	HP:0001268	Mental deterioration
2068	ERCC2	HP:0001289	Confusion
2068	ERCC2	HP:0001250	Seizure
2068	ERCC2	HP:0001252	Hypotonia
2068	ERCC2	HP:0001251	Ataxia
2068	ERCC2	HP:0001249	Intellectual disability
2068	ERCC2	HP:0001265	Hyporeflexia
2068	ERCC2	HP:0001266	Choreoathetosis
2068	ERCC2	HP:0001260	Dysarthria
2068	ERCC2	HP:0001263	Global developmental delay
2068	ERCC2	HP:0001257	Spasticity
2068	ERCC2	HP:0002562	Low-set nipples
2068	ERCC2	HP:0008734	Decreased testicular size
2068	ERCC2	HP:0007381	Congenital exfoliative erythroderma
2068	ERCC2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2068	ERCC2	HP:0010978	Abnormality of immune system physiology
2068	ERCC2	HP:0001217	Clubbing
2068	ERCC2	HP:0002514	Cerebral calcification
2068	ERCC2	HP:0003819	Death in childhood
2068	ERCC2	HP:0000046	Small scrotum
2068	ERCC2	HP:0001371	Flexion contracture
2068	ERCC2	HP:0001373	Joint dislocation
2068	ERCC2	HP:0000054	Micropenis
2068	ERCC2	HP:0001387	Joint stiffness
2068	ERCC2	HP:0001363	Craniosynostosis
2068	ERCC2	HP:0000028	Cryptorchidism
2068	ERCC2	HP:0008872	Feeding difficulties in infancy
2068	ERCC2	HP:0007495	Prematurely aged appearance
2068	ERCC2	HP:0007485	Absence of subcutaneous fat
2068	ERCC2	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
2068	ERCC2	HP:0002664	Neoplasm
2068	ERCC2	HP:0002671	Basal cell carcinoma
2068	ERCC2	HP:0001338	Partial agenesis of the corpus callosum
2068	ERCC2	HP:0000007	Autosomal recessive inheritance
2068	ERCC2	HP:0002634	Arteriosclerosis
2068	ERCC2	HP:0001315	Reduced tendon reflexes
2068	ERCC2	HP:0000164	Abnormality of the dentition
2068	ERCC2	HP:0000135	Hypogonadism
2068	ERCC2	HP:0001480	Freckling
2068	ERCC2	HP:0025428	Bronchospasm
2068	ERCC2	HP:0007633	Bilateral microphthalmos
2068	ERCC2	HP:0002705	High, narrow palate
2068	ERCC2	HP:0006297	Enamel hypoplasia
2068	ERCC2	HP:0007587	Numerous pigmented freckles
2068	ERCC2	HP:0000133	Gonadal dysgenesis
2068	ERCC2	HP:0002751	Kyphoscoliosis
2068	ERCC2	HP:0002750	Delayed skeletal maturation
2068	ERCC2	HP:0002719	Recurrent infections
2068	ERCC2	HP:0003355	Aminoaciduria
2068	ERCC2	HP:0002024	Malabsorption
2068	ERCC2	HP:0002028	Chronic diarrhea
2068	ERCC2	HP:0002080	Intention tremor
2068	ERCC2	HP:0100543	Cognitive impairment
2068	ERCC2	HP:0002099	Asthma
2068	ERCC2	HP:0002066	Gait ataxia
2068	ERCC2	HP:0002071	Abnormality of extrapyramidal motor function
2068	ERCC2	HP:0100585	Telangiectasia of the skin
2068	ERCC2	HP:0002120	Cerebral cortical atrophy
2068	ERCC2	HP:0002119	Ventriculomegaly
2068	ERCC2	HP:0002197	Generalized-onset seizure
2068	ERCC2	HP:0100490	Camptodactyly of finger
2068	ERCC2	HP:0010551	Paraplegia/paraparesis
2068	ERCC2	HP:0003593	Infantile onset
2068	ERCC2	HP:0003577	Congenital onset
2068	ERCC2	HP:0002213	Fine hair
2068	ERCC2	HP:0002209	Sparse scalp hair
2068	ERCC2	HP:0008404	Nail dystrophy
2068	ERCC2	HP:0002299	Brittle hair
2068	ERCC2	HP:0002293	Alopecia of scalp
2068	ERCC2	HP:0007034	Generalized hyperreflexia
2068	ERCC2	HP:0010649	Flat nasal alae
2068	ERCC2	HP:0008391	Dystrophic fingernails
2068	ERCC2	HP:0008386	Aplasia/Hypoplasia of the nails
2068	ERCC2	HP:0001053	Hypopigmented skin patches
2068	ERCC2	HP:0001059	Pterygium
2068	ERCC2	HP:0001034	Hypermelanotic macule
2068	ERCC2	HP:0001029	Poikiloderma
2068	ERCC2	HP:0002376	Developmental regression
2068	ERCC2	HP:0001009	Telangiectasia
2068	ERCC2	HP:0001025	Urticaria
2068	ERCC2	HP:0002353	EEG abnormality
2068	ERCC2	HP:0001019	Erythroderma
2068	ERCC2	HP:0009830	Peripheral neuropathy
2068	ERCC2	HP:0001097	Keratoconjunctivitis sicca
2068	ERCC2	HP:0001072	Thickened skin
2068	ERCC2	HP:0010783	Erythema
2068	ERCC2	HP:0007108	Demyelinating peripheral neuropathy
2068	ERCC2	HP:0009755	Ankyloblepharon
2068	ERCC2	HP:0006887	Intellectual disability, progressive
2068	ERCC2	HP:0000639	Nystagmus
2068	ERCC2	HP:0000651	Diplopia
2068	ERCC2	HP:0000648	Optic atrophy
2068	ERCC2	HP:0000613	Photophobia
2068	ERCC2	HP:0001945	Fever
2068	ERCC2	HP:0000621	Entropion
2068	ERCC2	HP:0000608	Macular degeneration
2068	ERCC2	HP:0000601	Hypotelorism
2068	ERCC2	HP:0001903	Anemia
2068	ERCC2	HP:0011344	Severe global developmental delay
2068	ERCC2	HP:0000656	Ectropion
2068	ERCC2	HP:0000670	Carious teeth
2068	ERCC2	HP:0004322	Short stature
2068	ERCC2	HP:0004315	Decreased circulating IgG level
2068	ERCC2	HP:0004334	Dermal atrophy
2068	ERCC2	HP:0004326	Cachexia
2068	ERCC2	HP:0006970	Periventricular leukomalacia
2068	ERCC2	HP:0003079	Defective DNA repair after ultraviolet radiation damage
2068	ERCC2	HP:0004337	Abnormality of amino acid metabolism
2068	ERCC2	HP:0100012	Neoplasm of the eye
2068	ERCC2	HP:0012733	Macule
2068	ERCC2	HP:0012740	Papilloma
2068	ERCC2	HP:0000750	Delayed speech and language development
2068	ERCC2	HP:0011496	Corneal neovascularization
2068	ERCC2	HP:0012760	Reduced social reciprocity
2068	ERCC2	HP:0003196	Short nose
2068	ERCC2	HP:0004493	Craniofacial hyperostosis
2068	ERCC2	HP:0003139	Panhypogammaglobulinemia
2068	ERCC2	HP:0045055	Tiger tail banding
2068	ERCC2	HP:0000995	Melanocytic nevus
2068	ERCC2	HP:0100275	Diffuse cerebellar atrophy
2068	ERCC2	HP:0000992	Cutaneous photosensitivity
2068	ERCC2	HP:0000988	Skin rash
2068	ERCC2	HP:0000958	Dry skin
2068	ERCC2	HP:0034354	Trichoschisis
2068	ERCC2	HP:0000964	Eczema
2068	ERCC2	HP:0000963	Thin skin
2068	ERCC2	HP:0000962	Hyperkeratosis
2068	ERCC2	HP:0000938	Osteopenia
2068	ERCC2	HP:0008070	Sparse hair
2068	ERCC2	HP:0008064	Ichthyosis
2068	ERCC2	HP:0007703	Abnormality of retinal pigmentation
2068	ERCC2	HP:0000286	Epicanthus
2068	ERCC2	HP:0000280	Coarse facial features
2068	ERCC2	HP:0000278	Retrognathia
2068	ERCC2	HP:0001596	Alopecia
2068	ERCC2	HP:0025548	Increased mean corpuscular hemoglobin concentration
2068	ERCC2	HP:0001598	Concave nail
2068	ERCC2	HP:0007759	Opacification of the corneal stroma
2068	ERCC2	HP:0005105	Abnormal nasal morphology
2068	ERCC2	HP:0002829	Arthralgia
2068	ERCC2	HP:0002828	Multiple joint contractures
2068	ERCC2	HP:0002804	Arthrogryposis multiplex congenita
2068	ERCC2	HP:0000238	Hydrocephalus
2068	ERCC2	HP:0000252	Microcephaly
2068	ERCC2	HP:0000232	Everted lower lip vermilion
2068	ERCC2	HP:0002861	Melanoma
2068	ERCC2	HP:0002860	Squamous cell carcinoma
2068	ERCC2	HP:0001522	Death in infancy
2068	ERCC2	HP:0001537	Umbilical hernia
2068	ERCC2	HP:0000207	Triangular mouth
2068	ERCC2	HP:0001508	Failure to thrive
2068	ERCC2	HP:0001518	Small for gestational age
2068	ERCC2	HP:0001511	Intrauterine growth retardation
2068	ERCC2	HP:0001510	Growth delay
2068	ERCC2	HP:0012378	Fatigue
2068	ERCC2	HP:0005214	Intestinal obstruction
2068	ERCC2	HP:0006538	Recurrent bronchopulmonary infections
2068	ERCC2	HP:0001618	Dysphonia
2068	ERCC2	HP:0002942	Thoracic kyphosis
2068	ERCC2	HP:0000365	Hearing impairment
2068	ERCC2	HP:0011001	Increased bone mineral density
2068	ERCC2	HP:0000347	Micrognathia
2068	ERCC2	HP:0000320	Bird-like facies
2068	ERCC2	HP:0000316	Hypertelorism
2068	ERCC2	HP:0001629	Ventricular septal defect
2068	ERCC2	HP:0001638	Cardiomyopathy
2068	ERCC2	HP:0000498	Blepharitis
2068	ERCC2	HP:0000407	Sensorineural hearing impairment
2068	ERCC2	HP:0000400	Macrotia
2068	ERCC2	HP:0000483	Astigmatism
2068	ERCC2	HP:0000486	Strabismus
2068	ERCC2	HP:0000482	Microcornea
2068	ERCC2	HP:0000491	Keratitis
2068	ERCC2	HP:0000490	Deeply set eye
2068	ERCC2	HP:0000488	Retinopathy
2068	ERCC2	HP:0001792	Small nail
2068	ERCC2	HP:0000470	Short neck
2068	ERCC2	HP:0000448	Prominent nose
2068	ERCC2	HP:0000444	Convex nasal ridge
2068	ERCC2	HP:0000411	Protruding ear
2068	ERCC2	HP:0000431	Wide nasal bridge
2068	ERCC2	HP:0006739	Squamous cell carcinoma of the skin
2068	ERCC2	HP:0005487	Prominent metopic ridge
2068	ERCC2	HP:0000518	Cataract
2068	ERCC2	HP:0000519	Developmental cataract
2068	ERCC2	HP:0000524	Conjunctival telangiectasia
2068	ERCC2	HP:0001838	Rocker bottom foot
2068	ERCC2	HP:0000509	Conjunctivitis
2068	ERCC2	HP:0000505	Visual impairment
2068	ERCC2	HP:0001809	Split nail
2068	ERCC2	HP:0001808	Fragile nails
2068	ERCC2	HP:0001807	Ridged nail
2068	ERCC2	HP:0000568	Microphthalmia
2068	ERCC2	HP:0000565	Esotropia
2068	ERCC2	HP:0001883	Talipes
2068	ERCC2	HP:0000546	Retinal degeneration
2068	ERCC2	HP:0000545	Myopia
2068	ERCC2	HP:0001875	Neutropenia
2070	EYA4	HP:0000006	Autosomal dominant inheritance
2070	EYA4	HP:0040268	Recurrent infections of the middle ear
2070	EYA4	HP:0030872	Abnormal cardiac ventricular function
2070	EYA4	HP:0005162	Abnormal left ventricular function
2070	EYA4	HP:0000365	Hearing impairment
2070	EYA4	HP:0001699	Sudden death
2070	EYA4	HP:0001645	Sudden cardiac death
2070	EYA4	HP:0001644	Dilated cardiomyopathy
2070	EYA4	HP:0001635	Congestive heart failure
2070	EYA4	HP:0000407	Sensorineural hearing impairment
2071	ERCC3	HP:0008619	Bilateral sensorineural hearing impairment
2071	ERCC3	HP:0001197	Abnormality of prenatal development or birth
2071	ERCC3	HP:0410219	Hypoplasia of mandible relative to maxilla
2071	ERCC3	HP:0007266	Cerebral dysmyelination
2071	ERCC3	HP:0007256	Abnormal pyramidal sign
2071	ERCC3	HP:0001290	Generalized hypotonia
2071	ERCC3	HP:0001276	Hypertonia
2071	ERCC3	HP:0001272	Cerebellar atrophy
2071	ERCC3	HP:0001289	Confusion
2071	ERCC3	HP:0001250	Seizure
2071	ERCC3	HP:0001251	Ataxia
2071	ERCC3	HP:0001249	Intellectual disability
2071	ERCC3	HP:0001265	Hyporeflexia
2071	ERCC3	HP:0001260	Dysarthria
2071	ERCC3	HP:0001263	Global developmental delay
2071	ERCC3	HP:0001257	Spasticity
2071	ERCC3	HP:0002562	Low-set nipples
2071	ERCC3	HP:0008734	Decreased testicular size
2071	ERCC3	HP:0007381	Congenital exfoliative erythroderma
2071	ERCC3	HP:0001217	Clubbing
2071	ERCC3	HP:0012056	Cutaneous melanoma
2071	ERCC3	HP:0001373	Joint dislocation
2071	ERCC3	HP:0001347	Hyperreflexia
2071	ERCC3	HP:0001363	Craniosynostosis
2071	ERCC3	HP:0000028	Cryptorchidism
2071	ERCC3	HP:0007495	Prematurely aged appearance
2071	ERCC3	HP:0007485	Absence of subcutaneous fat
2071	ERCC3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
2071	ERCC3	HP:0002664	Neoplasm
2071	ERCC3	HP:0002671	Basal cell carcinoma
2071	ERCC3	HP:0001338	Partial agenesis of the corpus callosum
2071	ERCC3	HP:0000007	Autosomal recessive inheritance
2071	ERCC3	HP:0002634	Arteriosclerosis
2071	ERCC3	HP:0001315	Reduced tendon reflexes
2071	ERCC3	HP:0000164	Abnormality of the dentition
2071	ERCC3	HP:0000135	Hypogonadism
2071	ERCC3	HP:0001480	Freckling
2071	ERCC3	HP:0025428	Bronchospasm
2071	ERCC3	HP:0007633	Bilateral microphthalmos
2071	ERCC3	HP:0002705	High, narrow palate
2071	ERCC3	HP:0006297	Enamel hypoplasia
2071	ERCC3	HP:0007587	Numerous pigmented freckles
2071	ERCC3	HP:0000133	Gonadal dysgenesis
2071	ERCC3	HP:0002750	Delayed skeletal maturation
2071	ERCC3	HP:0002719	Recurrent infections
2071	ERCC3	HP:0003355	Aminoaciduria
2071	ERCC3	HP:0002080	Intention tremor
2071	ERCC3	HP:0100543	Cognitive impairment
2071	ERCC3	HP:0002066	Gait ataxia
2071	ERCC3	HP:0002071	Abnormality of extrapyramidal motor function
2071	ERCC3	HP:0100585	Telangiectasia of the skin
2071	ERCC3	HP:0002120	Cerebral cortical atrophy
2071	ERCC3	HP:0002119	Ventriculomegaly
2071	ERCC3	HP:0002135	Basal ganglia calcification
2071	ERCC3	HP:0002197	Generalized-onset seizure
2071	ERCC3	HP:0010551	Paraplegia/paraparesis
2071	ERCC3	HP:0003577	Congenital onset
2071	ERCC3	HP:0002209	Sparse scalp hair
2071	ERCC3	HP:0002208	Coarse hair
2071	ERCC3	HP:0002299	Brittle hair
2071	ERCC3	HP:0002293	Alopecia of scalp
2071	ERCC3	HP:0007034	Generalized hyperreflexia
2071	ERCC3	HP:0010649	Flat nasal alae
2071	ERCC3	HP:0008391	Dystrophic fingernails
2071	ERCC3	HP:0008386	Aplasia/Hypoplasia of the nails
2071	ERCC3	HP:0001053	Hypopigmented skin patches
2071	ERCC3	HP:0001059	Pterygium
2071	ERCC3	HP:0001034	Hypermelanotic macule
2071	ERCC3	HP:0001029	Poikiloderma
2071	ERCC3	HP:0002376	Developmental regression
2071	ERCC3	HP:0001009	Telangiectasia
2071	ERCC3	HP:0001025	Urticaria
2071	ERCC3	HP:0002353	EEG abnormality
2071	ERCC3	HP:0009830	Peripheral neuropathy
2071	ERCC3	HP:0001097	Keratoconjunctivitis sicca
2071	ERCC3	HP:0001072	Thickened skin
2071	ERCC3	HP:0010783	Erythema
2071	ERCC3	HP:0007108	Demyelinating peripheral neuropathy
2071	ERCC3	HP:0009755	Ankyloblepharon
2071	ERCC3	HP:0006887	Intellectual disability, progressive
2071	ERCC3	HP:0000639	Nystagmus
2071	ERCC3	HP:0000651	Diplopia
2071	ERCC3	HP:0000648	Optic atrophy
2071	ERCC3	HP:0000613	Photophobia
2071	ERCC3	HP:0001945	Fever
2071	ERCC3	HP:0000621	Entropion
2071	ERCC3	HP:0000608	Macular degeneration
2071	ERCC3	HP:0000601	Hypotelorism
2071	ERCC3	HP:0001903	Anemia
2071	ERCC3	HP:0000690	Agenesis of maxillary lateral incisor
2071	ERCC3	HP:0000656	Ectropion
2071	ERCC3	HP:0000670	Carious teeth
2071	ERCC3	HP:0004322	Short stature
2071	ERCC3	HP:0004334	Dermal atrophy
2071	ERCC3	HP:0004326	Cachexia
2071	ERCC3	HP:0006970	Periventricular leukomalacia
2071	ERCC3	HP:0003079	Defective DNA repair after ultraviolet radiation damage
2071	ERCC3	HP:0004337	Abnormality of amino acid metabolism
2071	ERCC3	HP:0100012	Neoplasm of the eye
2071	ERCC3	HP:0011400	Abnormal CNS myelination
2071	ERCC3	HP:0012733	Macule
2071	ERCC3	HP:0012740	Papilloma
2071	ERCC3	HP:0000762	Decreased nerve conduction velocity
2071	ERCC3	HP:0012760	Reduced social reciprocity
2071	ERCC3	HP:0004493	Craniofacial hyperostosis
2071	ERCC3	HP:0003139	Panhypogammaglobulinemia
2071	ERCC3	HP:0003224	Increased cellular sensitivity to UV light
2071	ERCC3	HP:0045055	Tiger tail banding
2071	ERCC3	HP:0000995	Melanocytic nevus
2071	ERCC3	HP:0100275	Diffuse cerebellar atrophy
2071	ERCC3	HP:0000992	Cutaneous photosensitivity
2071	ERCC3	HP:0000988	Skin rash
2071	ERCC3	HP:0000958	Dry skin
2071	ERCC3	HP:0000964	Eczema
2071	ERCC3	HP:0000963	Thin skin
2071	ERCC3	HP:0000962	Hyperkeratosis
2071	ERCC3	HP:0000938	Osteopenia
2071	ERCC3	HP:0008064	Ichthyosis
2071	ERCC3	HP:0000286	Epicanthus
2071	ERCC3	HP:0000280	Coarse facial features
2071	ERCC3	HP:0000278	Retrognathia
2071	ERCC3	HP:0001596	Alopecia
2071	ERCC3	HP:0025548	Increased mean corpuscular hemoglobin concentration
2071	ERCC3	HP:0001598	Concave nail
2071	ERCC3	HP:0007759	Opacification of the corneal stroma
2071	ERCC3	HP:0002829	Arthralgia
2071	ERCC3	HP:0002828	Multiple joint contractures
2071	ERCC3	HP:0000238	Hydrocephalus
2071	ERCC3	HP:0000252	Microcephaly
2071	ERCC3	HP:0002861	Melanoma
2071	ERCC3	HP:0002860	Squamous cell carcinoma
2071	ERCC3	HP:0001537	Umbilical hernia
2071	ERCC3	HP:0001508	Failure to thrive
2071	ERCC3	HP:0001511	Intrauterine growth retardation
2071	ERCC3	HP:0012378	Fatigue
2071	ERCC3	HP:0006538	Recurrent bronchopulmonary infections
2071	ERCC3	HP:0001618	Dysphonia
2071	ERCC3	HP:0002942	Thoracic kyphosis
2071	ERCC3	HP:0000365	Hearing impairment
2071	ERCC3	HP:0011001	Increased bone mineral density
2071	ERCC3	HP:0000320	Bird-like facies
2071	ERCC3	HP:0000316	Hypertelorism
2071	ERCC3	HP:0001629	Ventricular septal defect
2071	ERCC3	HP:0001638	Cardiomyopathy
2071	ERCC3	HP:0000498	Blepharitis
2071	ERCC3	HP:0005328	Progeroid facial appearance
2071	ERCC3	HP:0000407	Sensorineural hearing impairment
2071	ERCC3	HP:0000483	Astigmatism
2071	ERCC3	HP:0000486	Strabismus
2071	ERCC3	HP:0000482	Microcornea
2071	ERCC3	HP:0000491	Keratitis
2071	ERCC3	HP:0000488	Retinopathy
2071	ERCC3	HP:0000411	Protruding ear
2071	ERCC3	HP:0006739	Squamous cell carcinoma of the skin
2071	ERCC3	HP:0000518	Cataract
2071	ERCC3	HP:0000519	Developmental cataract
2071	ERCC3	HP:0000524	Conjunctival telangiectasia
2071	ERCC3	HP:0000509	Conjunctivitis
2071	ERCC3	HP:0001809	Split nail
2071	ERCC3	HP:0001808	Fragile nails
2071	ERCC3	HP:0001807	Ridged nail
2071	ERCC3	HP:0000580	Pigmentary retinopathy
2071	ERCC3	HP:0000568	Microphthalmia
2071	ERCC3	HP:0000565	Esotropia
2071	ERCC3	HP:0000546	Retinal degeneration
2071	ERCC3	HP:0000545	Myopia
2071	ERCC3	HP:0001875	Neutropenia
2072	ERCC4	HP:0001172	Abnormal thumb morphology
2072	ERCC4	HP:0001199	Triphalangeal thumb
2072	ERCC4	HP:0008572	External ear malformation
2072	ERCC4	HP:0002414	Spina bifida
2072	ERCC4	HP:0001289	Confusion
2072	ERCC4	HP:0001288	Gait disturbance
2072	ERCC4	HP:0001256	Intellectual disability, mild
2072	ERCC4	HP:0001250	Seizure
2072	ERCC4	HP:0001252	Hypotonia
2072	ERCC4	HP:0001251	Ataxia
2072	ERCC4	HP:0001249	Intellectual disability
2072	ERCC4	HP:0001260	Dysarthria
2072	ERCC4	HP:0001263	Global developmental delay
2072	ERCC4	HP:0001257	Spasticity
2072	ERCC4	HP:0002575	Tracheoesophageal fistula
2072	ERCC4	HP:0006101	Finger syndactyly
2072	ERCC4	HP:0007400	Irregular hyperpigmentation
2072	ERCC4	HP:0008734	Decreased testicular size
2072	ERCC4	HP:0100867	Duodenal stenosis
2072	ERCC4	HP:0008678	Renal hypoplasia/aplasia
2072	ERCC4	HP:0000083	Renal insufficiency
2072	ERCC4	HP:0000093	Proteinuria
2072	ERCC4	HP:0001392	Abnormality of the liver
2072	ERCC4	HP:0000079	Abnormality of the urinary system
2072	ERCC4	HP:0000072	Hydroureter
2072	ERCC4	HP:0012041	Decreased fertility in males
2072	ERCC4	HP:0001371	Flexion contracture
2072	ERCC4	HP:0000047	Hypospadias
2072	ERCC4	HP:0001347	Hyperreflexia
2072	ERCC4	HP:0000035	Abnormal testis morphology
2072	ERCC4	HP:0000026	Male hypogonadism
2072	ERCC4	HP:0000028	Cryptorchidism
2072	ERCC4	HP:0000027	Azoospermia
2072	ERCC4	HP:0007565	Multiple cafe-au-lait spots
2072	ERCC4	HP:0008897	Postnatal growth retardation
2072	ERCC4	HP:0007495	Prematurely aged appearance
2072	ERCC4	HP:0007485	Absence of subcutaneous fat
2072	ERCC4	HP:0002664	Neoplasm
2072	ERCC4	HP:0000010	Recurrent urinary tract infections
2072	ERCC4	HP:0002671	Basal cell carcinoma
2072	ERCC4	HP:0000007	Autosomal recessive inheritance
2072	ERCC4	HP:0001337	Tremor
2072	ERCC4	HP:0002634	Arteriosclerosis
2072	ERCC4	HP:0002650	Scoliosis
2072	ERCC4	HP:0001315	Reduced tendon reflexes
2072	ERCC4	HP:0000164	Abnormality of the dentition
2072	ERCC4	HP:0000175	Cleft palate
2072	ERCC4	HP:0000135	Hypogonadism
2072	ERCC4	HP:0001480	Freckling
2072	ERCC4	HP:0006334	Hypoplasia of the primary teeth
2072	ERCC4	HP:0006313	Widely spaced primary teeth
2072	ERCC4	HP:0031287	Seborrheic keratosis
2072	ERCC4	HP:0006297	Enamel hypoplasia
2072	ERCC4	HP:0006265	Aplasia/Hypoplasia of fingers
2072	ERCC4	HP:0007587	Numerous pigmented freckles
2072	ERCC4	HP:0000130	Abnormality of the uterus
2072	ERCC4	HP:0002750	Delayed skeletal maturation
2072	ERCC4	HP:0002023	Anal atresia
2072	ERCC4	HP:0003355	Aminoaciduria
2072	ERCC4	HP:0002032	Esophageal atresia
2072	ERCC4	HP:0002014	Diarrhea
2072	ERCC4	HP:0002011	Morphological central nervous system abnormality
2072	ERCC4	HP:0002007	Frontal bossing
2072	ERCC4	HP:0100542	Abnormal localization of kidney
2072	ERCC4	HP:0100543	Cognitive impairment
2072	ERCC4	HP:0002061	Lower limb spasticity
2072	ERCC4	HP:0002071	Abnormality of extrapyramidal motor function
2072	ERCC4	HP:0010445	Primum atrial septal defect
2072	ERCC4	HP:0100585	Telangiectasia of the skin
2072	ERCC4	HP:0100587	Abnormal preputium morphology
2072	ERCC4	HP:0005912	Biliary atresia
2072	ERCC4	HP:0010469	Absent testis
2072	ERCC4	HP:0002120	Cerebral cortical atrophy
2072	ERCC4	HP:0002119	Ventriculomegaly
2072	ERCC4	HP:0002135	Basal ganglia calcification
2072	ERCC4	HP:0002172	Postural instability
2072	ERCC4	HP:0008209	Premature ovarian insufficiency
2072	ERCC4	HP:0002245	Meckel diverticulum
2072	ERCC4	HP:0003577	Congenital onset
2072	ERCC4	HP:0002240	Hepatomegaly
2072	ERCC4	HP:0002251	Aganglionic megacolon
2072	ERCC4	HP:0100760	Clubbing of toes
2072	ERCC4	HP:0008366	Foot joint contracture
2072	ERCC4	HP:0010649	Flat nasal alae
2072	ERCC4	HP:0003510	Severe short stature
2072	ERCC4	HP:0001053	Hypopigmented skin patches
2072	ERCC4	HP:0001059	Pterygium
2072	ERCC4	HP:0001034	Hypermelanotic macule
2072	ERCC4	HP:0002360	Sleep disturbance
2072	ERCC4	HP:0001029	Poikiloderma
2072	ERCC4	HP:0002376	Developmental regression
2072	ERCC4	HP:0002370	Poor coordination
2072	ERCC4	HP:0001009	Telangiectasia
2072	ERCC4	HP:0002355	Difficulty walking
2072	ERCC4	HP:0001025	Urticaria
2072	ERCC4	HP:0002353	EEG abnormality
2072	ERCC4	HP:0001000	Abnormality of skin pigmentation
2072	ERCC4	HP:0200034	Papule
2072	ERCC4	HP:0009830	Peripheral neuropathy
2072	ERCC4	HP:0001072	Thickened skin
2072	ERCC4	HP:0010783	Erythema
2072	ERCC4	HP:0100699	Scarring
2072	ERCC4	HP:0009777	Absent thumb
2072	ERCC4	HP:0007108	Demyelinating peripheral neuropathy
2072	ERCC4	HP:0009755	Ankyloblepharon
2072	ERCC4	HP:0003621	Juvenile onset
2072	ERCC4	HP:0005528	Bone marrow hypocellularity
2072	ERCC4	HP:0004209	Clinodactyly of the 5th finger
2072	ERCC4	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2072	ERCC4	HP:0006824	Cranial nerve paralysis
2072	ERCC4	HP:0006887	Intellectual disability, progressive
2072	ERCC4	HP:0000639	Nystagmus
2072	ERCC4	HP:0000633	Decreased lacrimation
2072	ERCC4	HP:0000651	Diplopia
2072	ERCC4	HP:0000648	Optic atrophy
2072	ERCC4	HP:0000618	Blindness
2072	ERCC4	HP:0000613	Photophobia
2072	ERCC4	HP:0001945	Fever
2072	ERCC4	HP:0000621	Entropion
2072	ERCC4	HP:0001903	Anemia
2072	ERCC4	HP:0000680	Delayed eruption of primary teeth
2072	ERCC4	HP:0000674	Anodontia
2072	ERCC4	HP:0000656	Ectropion
2072	ERCC4	HP:0012639	Abnormal nervous system morphology
2072	ERCC4	HP:0001999	Abnormal facial shape
2072	ERCC4	HP:0004325	Decreased body weight
2072	ERCC4	HP:0004322	Short stature
2072	ERCC4	HP:0004334	Dermal atrophy
2072	ERCC4	HP:0004326	Cachexia
2072	ERCC4	HP:0003079	Defective DNA repair after ultraviolet radiation damage
2072	ERCC4	HP:0003073	Hypoalbuminemia
2072	ERCC4	HP:0004370	Abnormality of temperature regulation
2072	ERCC4	HP:0004337	Abnormality of amino acid metabolism
2072	ERCC4	HP:0003022	Hypoplasia of the ulna
2072	ERCC4	HP:0004349	Reduced bone mineral density
2072	ERCC4	HP:0012745	Short palpebral fissure
2072	ERCC4	HP:0100012	Neoplasm of the eye
2072	ERCC4	HP:0012733	Macule
2072	ERCC4	HP:0012740	Papilloma
2072	ERCC4	HP:0100026	Arteriovenous malformation
2072	ERCC4	HP:0000726	Dementia
2072	ERCC4	HP:0011463	Childhood onset
2072	ERCC4	HP:0011421	Death in adolescence
2072	ERCC4	HP:0004493	Craniofacial hyperostosis
2072	ERCC4	HP:0003134	Abnormality of peripheral nerve conduction
2072	ERCC4	HP:0004463	Absent brainstem auditory responses
2072	ERCC4	HP:0003138	Increased blood urea nitrogen
2072	ERCC4	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2072	ERCC4	HP:0000813	Bicornuate uterus
2072	ERCC4	HP:0000822	Hypertension
2072	ERCC4	HP:0010293	Aplasia/Hypoplasia of the uvula
2072	ERCC4	HP:0040012	Chromosome breakage
2072	ERCC4	HP:0040071	Abnormal morphology of ulna
2072	ERCC4	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
2072	ERCC4	HP:0003220	Abnormality of chromosome stability
2072	ERCC4	HP:0000995	Melanocytic nevus
2072	ERCC4	HP:0000992	Cutaneous photosensitivity
2072	ERCC4	HP:0000988	Skin rash
2072	ERCC4	HP:0000958	Dry skin
2072	ERCC4	HP:0000966	Hypohidrosis
2072	ERCC4	HP:0000963	Thin skin
2072	ERCC4	HP:0000962	Hyperkeratosis
2072	ERCC4	HP:0008069	Neoplasm of the skin
2072	ERCC4	HP:0008053	Aplasia/Hypoplasia of the iris
2072	ERCC4	HP:0000286	Epicanthus
2072	ERCC4	HP:0001596	Alopecia
2072	ERCC4	HP:0000275	Narrow face
2072	ERCC4	HP:0000276	Long face
2072	ERCC4	HP:0000268	Dolichocephaly
2072	ERCC4	HP:0007759	Opacification of the corneal stroma
2072	ERCC4	HP:0002817	Abnormality of the upper limb
2072	ERCC4	HP:0002829	Arthralgia
2072	ERCC4	HP:0002827	Hip dislocation
2072	ERCC4	HP:0002823	Abnormality of femur morphology
2072	ERCC4	HP:0000238	Hydrocephalus
2072	ERCC4	HP:0000252	Microcephaly
2072	ERCC4	HP:0012210	Abnormal renal morphology
2072	ERCC4	HP:0000218	High palate
2072	ERCC4	HP:0001545	Anteriorly placed anus
2072	ERCC4	HP:0001562	Oligohydramnios
2072	ERCC4	HP:0002861	Melanoma
2072	ERCC4	HP:0002860	Squamous cell carcinoma
2072	ERCC4	HP:0001541	Ascites
2072	ERCC4	HP:0001537	Umbilical hernia
2072	ERCC4	HP:0002863	Myelodysplasia
2072	ERCC4	HP:0001508	Failure to thrive
2072	ERCC4	HP:0001511	Intrauterine growth retardation
2072	ERCC4	HP:0001510	Growth delay
2072	ERCC4	HP:0007843	Attenuation of retinal blood vessels
2072	ERCC4	HP:0006501	Aplasia/Hypoplasia of the radius
2072	ERCC4	HP:0012378	Fatigue
2072	ERCC4	HP:0031525	Keratoacanthoma
2072	ERCC4	HP:0007874	Almond-shaped palpebral fissure
2072	ERCC4	HP:0002910	Elevated hepatic transaminase
2072	ERCC4	HP:0006480	Premature loss of teeth
2072	ERCC4	HP:0000365	Hearing impairment
2072	ERCC4	HP:0000364	Hearing abnormality
2072	ERCC4	HP:0000369	Low-set ears
2072	ERCC4	HP:0001671	Abnormal cardiac septum morphology
2072	ERCC4	HP:0000340	Sloping forehead
2072	ERCC4	HP:0000336	Prominent supraorbital ridges
2072	ERCC4	HP:0001679	Abnormal aortic morphology
2072	ERCC4	HP:0000347	Micrognathia
2072	ERCC4	HP:0000316	Hypertelorism
2072	ERCC4	HP:0001646	Abnormal aortic valve morphology
2072	ERCC4	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
2072	ERCC4	HP:0001643	Patent ductus arteriosus
2072	ERCC4	HP:0000331	Short chin
2072	ERCC4	HP:0000324	Facial asymmetry
2072	ERCC4	HP:0001620	High pitched voice
2072	ERCC4	HP:0001639	Hypertrophic cardiomyopathy
2072	ERCC4	HP:0001636	Tetralogy of Fallot
2072	ERCC4	HP:0001631	Atrial septal defect
2072	ERCC4	HP:0000303	Mandibular prognathia
2072	ERCC4	HP:0000498	Blepharitis
2072	ERCC4	HP:0005328	Progeroid facial appearance
2072	ERCC4	HP:0005344	Abnormal carotid artery morphology
2072	ERCC4	HP:0000407	Sensorineural hearing impairment
2072	ERCC4	HP:0000400	Macrotia
2072	ERCC4	HP:0000483	Astigmatism
2072	ERCC4	HP:0000486	Strabismus
2072	ERCC4	HP:0000478	Abnormality of the eye
2072	ERCC4	HP:0000491	Keratitis
2072	ERCC4	HP:0000490	Deeply set eye
2072	ERCC4	HP:0000492	Abnormal eyelid morphology
2072	ERCC4	HP:0000488	Retinopathy
2072	ERCC4	HP:0012444	Brain atrophy
2072	ERCC4	HP:0001770	Toe syndactyly
2072	ERCC4	HP:0001763	Pes planus
2072	ERCC4	HP:0000453	Choanal atresia
2072	ERCC4	HP:0000444	Convex nasal ridge
2072	ERCC4	HP:0001760	Abnormal foot morphology
2072	ERCC4	HP:0001761	Pes cavus
2072	ERCC4	HP:0006739	Squamous cell carcinoma of the skin
2072	ERCC4	HP:0000518	Cataract
2072	ERCC4	HP:0000528	Anophthalmia
2072	ERCC4	HP:0000524	Conjunctival telangiectasia
2072	ERCC4	HP:0000520	Proptosis
2072	ERCC4	HP:0001824	Weight loss
2072	ERCC4	HP:0000509	Conjunctivitis
2072	ERCC4	HP:0000508	Ptosis
2072	ERCC4	HP:0000505	Visual impairment
2072	ERCC4	HP:0000504	Abnormality of vision
2072	ERCC4	HP:0000582	Upslanted palpebral fissure
2072	ERCC4	HP:0000580	Pigmentary retinopathy
2072	ERCC4	HP:0000559	Corneal scarring
2072	ERCC4	HP:0000554	Uveitis
2072	ERCC4	HP:0000568	Microphthalmia
2072	ERCC4	HP:0001871	Abnormality of blood and blood-forming tissues
2072	ERCC4	HP:0001882	Leukopenia
2072	ERCC4	HP:0001873	Thrombocytopenia
2073	ERCC5	HP:0007291	Posterior fossa cyst
2073	ERCC5	HP:0001276	Hypertonia
2073	ERCC5	HP:0001274	Agenesis of corpus callosum
2073	ERCC5	HP:0001289	Confusion
2073	ERCC5	HP:0001250	Seizure
2073	ERCC5	HP:0001252	Hypotonia
2073	ERCC5	HP:0001251	Ataxia
2073	ERCC5	HP:0001249	Intellectual disability
2073	ERCC5	HP:0001260	Dysarthria
2073	ERCC5	HP:0001263	Global developmental delay
2073	ERCC5	HP:0001257	Spasticity
2073	ERCC5	HP:0008734	Decreased testicular size
2073	ERCC5	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2073	ERCC5	HP:0010978	Abnormality of immune system physiology
2073	ERCC5	HP:0002514	Cerebral calcification
2073	ERCC5	HP:0001387	Joint stiffness
2073	ERCC5	HP:0000028	Cryptorchidism
2073	ERCC5	HP:0008872	Feeding difficulties in infancy
2073	ERCC5	HP:0007495	Prematurely aged appearance
2073	ERCC5	HP:0002664	Neoplasm
2073	ERCC5	HP:0002671	Basal cell carcinoma
2073	ERCC5	HP:0000007	Autosomal recessive inheritance
2073	ERCC5	HP:0001337	Tremor
2073	ERCC5	HP:0002634	Arteriosclerosis
2073	ERCC5	HP:0001321	Cerebellar hypoplasia
2073	ERCC5	HP:0001315	Reduced tendon reflexes
2073	ERCC5	HP:0000164	Abnormality of the dentition
2073	ERCC5	HP:0000175	Cleft palate
2073	ERCC5	HP:0000135	Hypogonadism
2073	ERCC5	HP:0001480	Freckling
2073	ERCC5	HP:0007587	Numerous pigmented freckles
2073	ERCC5	HP:0002750	Delayed skeletal maturation
2073	ERCC5	HP:0003355	Aminoaciduria
2073	ERCC5	HP:0100543	Cognitive impairment
2073	ERCC5	HP:0002071	Abnormality of extrapyramidal motor function
2073	ERCC5	HP:0100585	Telangiectasia of the skin
2073	ERCC5	HP:0002120	Cerebral cortical atrophy
2073	ERCC5	HP:0002119	Ventriculomegaly
2073	ERCC5	HP:0100490	Camptodactyly of finger
2073	ERCC5	HP:0003593	Infantile onset
2073	ERCC5	HP:0010649	Flat nasal alae
2073	ERCC5	HP:0001053	Hypopigmented skin patches
2073	ERCC5	HP:0001059	Pterygium
2073	ERCC5	HP:0001034	Hypermelanotic macule
2073	ERCC5	HP:0001029	Poikiloderma
2073	ERCC5	HP:0002376	Developmental regression
2073	ERCC5	HP:0001009	Telangiectasia
2073	ERCC5	HP:0001025	Urticaria
2073	ERCC5	HP:0002353	EEG abnormality
2073	ERCC5	HP:0009830	Peripheral neuropathy
2073	ERCC5	HP:0001072	Thickened skin
2073	ERCC5	HP:0010783	Erythema
2073	ERCC5	HP:0007108	Demyelinating peripheral neuropathy
2073	ERCC5	HP:0009755	Ankyloblepharon
2073	ERCC5	HP:0003623	Neonatal onset
2073	ERCC5	HP:0006887	Intellectual disability, progressive
2073	ERCC5	HP:0000639	Nystagmus
2073	ERCC5	HP:0000651	Diplopia
2073	ERCC5	HP:0000648	Optic atrophy
2073	ERCC5	HP:0000613	Photophobia
2073	ERCC5	HP:0001945	Fever
2073	ERCC5	HP:0000621	Entropion
2073	ERCC5	HP:0011344	Severe global developmental delay
2073	ERCC5	HP:0000656	Ectropion
2073	ERCC5	HP:0004322	Short stature
2073	ERCC5	HP:0004334	Dermal atrophy
2073	ERCC5	HP:0004326	Cachexia
2073	ERCC5	HP:0003079	Defective DNA repair after ultraviolet radiation damage
2073	ERCC5	HP:0034198	Second trimester onset
2073	ERCC5	HP:0004337	Abnormality of amino acid metabolism
2073	ERCC5	HP:0100012	Neoplasm of the eye
2073	ERCC5	HP:0012733	Macule
2073	ERCC5	HP:0012740	Papilloma
2073	ERCC5	HP:0004493	Craniofacial hyperostosis
2073	ERCC5	HP:0000995	Melanocytic nevus
2073	ERCC5	HP:0000992	Cutaneous photosensitivity
2073	ERCC5	HP:0000988	Skin rash
2073	ERCC5	HP:0000958	Dry skin
2073	ERCC5	HP:0000969	Edema
2073	ERCC5	HP:0000963	Thin skin
2073	ERCC5	HP:0000962	Hyperkeratosis
2073	ERCC5	HP:0007703	Abnormality of retinal pigmentation
2073	ERCC5	HP:0001596	Alopecia
2073	ERCC5	HP:0007759	Opacification of the corneal stroma
2073	ERCC5	HP:0005105	Abnormal nasal morphology
2073	ERCC5	HP:0002829	Arthralgia
2073	ERCC5	HP:0002804	Arthrogryposis multiplex congenita
2073	ERCC5	HP:0000238	Hydrocephalus
2073	ERCC5	HP:0000252	Microcephaly
2073	ERCC5	HP:0000232	Everted lower lip vermilion
2073	ERCC5	HP:0001558	Decreased fetal movement
2073	ERCC5	HP:0002861	Melanoma
2073	ERCC5	HP:0001522	Death in infancy
2073	ERCC5	HP:0001508	Failure to thrive
2073	ERCC5	HP:0001518	Small for gestational age
2073	ERCC5	HP:0001511	Intrauterine growth retardation
2073	ERCC5	HP:0001510	Growth delay
2073	ERCC5	HP:0012378	Fatigue
2073	ERCC5	HP:0000365	Hearing impairment
2073	ERCC5	HP:0000369	Low-set ears
2073	ERCC5	HP:0000347	Micrognathia
2073	ERCC5	HP:0000498	Blepharitis
2073	ERCC5	HP:0000407	Sensorineural hearing impairment
2073	ERCC5	HP:0000486	Strabismus
2073	ERCC5	HP:0012469	Infantile spasms
2073	ERCC5	HP:0000491	Keratitis
2073	ERCC5	HP:0000488	Retinopathy
2073	ERCC5	HP:0000470	Short neck
2073	ERCC5	HP:0001762	Talipes equinovarus
2073	ERCC5	HP:0000431	Wide nasal bridge
2073	ERCC5	HP:0001761	Pes cavus
2073	ERCC5	HP:0006739	Squamous cell carcinoma of the skin
2073	ERCC5	HP:0005487	Prominent metopic ridge
2073	ERCC5	HP:0000518	Cataract
2073	ERCC5	HP:0000524	Conjunctival telangiectasia
2073	ERCC5	HP:0001838	Rocker bottom foot
2073	ERCC5	HP:0000505	Visual impairment
2073	ERCC5	HP:0000568	Microphthalmia
2073	ERCC5	HP:0001883	Talipes
2074	ERCC6	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
2074	ERCC6	HP:0001105	Retinal atrophy
2074	ERCC6	HP:0002446	Astrocytosis
2074	ERCC6	HP:0008639	Gonadal hypoplasia
2074	ERCC6	HP:0007305	CNS demyelination
2074	ERCC6	HP:0008615	Adult onset sensorineural hearing impairment
2074	ERCC6	HP:0032263	Increased blood pressure
2074	ERCC6	HP:0002415	Leukodystrophy
2074	ERCC6	HP:0003758	Reduced subcutaneous adipose tissue
2074	ERCC6	HP:0001297	Stroke
2074	ERCC6	HP:0001276	Hypertonia
2074	ERCC6	HP:0001272	Cerebellar atrophy
2074	ERCC6	HP:0001271	Polyneuropathy
2074	ERCC6	HP:0001274	Agenesis of corpus callosum
2074	ERCC6	HP:0001268	Mental deterioration
2074	ERCC6	HP:0001288	Gait disturbance
2074	ERCC6	HP:0001284	Areflexia
2074	ERCC6	HP:0001256	Intellectual disability, mild
2074	ERCC6	HP:0001250	Seizure
2074	ERCC6	HP:0001252	Hypotonia
2074	ERCC6	HP:0001251	Ataxia
2074	ERCC6	HP:0001249	Intellectual disability
2074	ERCC6	HP:0001265	Hyporeflexia
2074	ERCC6	HP:0001266	Choreoathetosis
2074	ERCC6	HP:0001263	Global developmental delay
2074	ERCC6	HP:0001257	Spasticity
2074	ERCC6	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2074	ERCC6	HP:0007352	Cerebellar calcifications
2074	ERCC6	HP:0008689	Bilateral cryptorchidism
2074	ERCC6	HP:0007346	Subcortical white matter calcifications
2074	ERCC6	HP:0010978	Abnormality of immune system physiology
2074	ERCC6	HP:0002542	Olivopontocerebellar atrophy
2074	ERCC6	HP:0002545	Patchy demyelination of subcortical white matter
2074	ERCC6	HP:0002514	Cerebral calcification
2074	ERCC6	HP:0002509	Limb hypertonia
2074	ERCC6	HP:0002506	Diffuse cerebral atrophy
2074	ERCC6	HP:0003819	Death in childhood
2074	ERCC6	HP:0000089	Renal hypoplasia
2074	ERCC6	HP:0000083	Renal insufficiency
2074	ERCC6	HP:0000093	Proteinuria
2074	ERCC6	HP:0000072	Hydroureter
2074	ERCC6	HP:0001376	Limitation of joint mobility
2074	ERCC6	HP:0001371	Flexion contracture
2074	ERCC6	HP:0000054	Micropenis
2074	ERCC6	HP:0001387	Joint stiffness
2074	ERCC6	HP:0002684	Thickened calvaria
2074	ERCC6	HP:0000016	Urinary retention
2074	ERCC6	HP:0001347	Hyperreflexia
2074	ERCC6	HP:0000026	Male hypogonadism
2074	ERCC6	HP:0000028	Cryptorchidism
2074	ERCC6	HP:0008897	Postnatal growth retardation
2074	ERCC6	HP:0008872	Feeding difficulties in infancy
2074	ERCC6	HP:0008839	Hypoplastic pelvis
2074	ERCC6	HP:0007495	Prematurely aged appearance
2074	ERCC6	HP:0002664	Neoplasm
2074	ERCC6	HP:0001324	Muscle weakness
2074	ERCC6	HP:0000011	Neurogenic bladder
2074	ERCC6	HP:0002673	Coxa valga
2074	ERCC6	HP:0000007	Autosomal recessive inheritance
2074	ERCC6	HP:0001337	Tremor
2074	ERCC6	HP:0000006	Autosomal dominant inheritance
2074	ERCC6	HP:0002650	Scoliosis
2074	ERCC6	HP:0001321	Cerebellar hypoplasia
2074	ERCC6	HP:0001315	Reduced tendon reflexes
2074	ERCC6	HP:0002616	Aortic root aneurysm
2074	ERCC6	HP:0000164	Abnormality of the dentition
2074	ERCC6	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration
2074	ERCC6	HP:0000135	Hypogonadism
2074	ERCC6	HP:0001480	Freckling
2074	ERCC6	HP:0007676	Hypoplasia of the iris
2074	ERCC6	HP:0006334	Hypoplasia of the primary teeth
2074	ERCC6	HP:0006313	Widely spaced primary teeth
2074	ERCC6	HP:0007623	Pigmentation anomalies of sun-exposed skin
2074	ERCC6	HP:0008936	Axial hypotonia
2074	ERCC6	HP:0006297	Enamel hypoplasia
2074	ERCC6	HP:0000122	Unilateral renal agenesis
2074	ERCC6	HP:0000126	Hydronephrosis
2074	ERCC6	HP:0001428	Somatic mutation
2074	ERCC6	HP:0002751	Kyphoscoliosis
2074	ERCC6	HP:0004681	Deep longitudinal plantar crease
2074	ERCC6	HP:0002020	Gastroesophageal reflux
2074	ERCC6	HP:0002014	Diarrhea
2074	ERCC6	HP:0002080	Intention tremor
2074	ERCC6	HP:0100543	Cognitive impairment
2074	ERCC6	HP:0002069	Bilateral tonic-clonic seizure
2074	ERCC6	HP:0002061	Lower limb spasticity
2074	ERCC6	HP:0002059	Cerebral atrophy
2074	ERCC6	HP:0008125	Second metatarsal posteriorly placed
2074	ERCC6	HP:0008110	Equinovarus deformity
2074	ERCC6	HP:0009473	Joint contracture of the hand
2074	ERCC6	HP:0003477	Peripheral axonal neuropathy
2074	ERCC6	HP:0003469	Peripheral dysmyelination
2074	ERCC6	HP:0003487	Babinski sign
2074	ERCC6	HP:0002120	Cerebral cortical atrophy
2074	ERCC6	HP:0002119	Ventriculomegaly
2074	ERCC6	HP:0002135	Basal ganglia calcification
2074	ERCC6	HP:0002187	Intellectual disability, profound
2074	ERCC6	HP:0002180	Neurodegeneration
2074	ERCC6	HP:0002171	Gliosis
2074	ERCC6	HP:0002172	Postural instability
2074	ERCC6	HP:0100490	Camptodactyly of finger
2074	ERCC6	HP:0008232	Elevated circulating follicle stimulating hormone level
2074	ERCC6	HP:0003593	Infantile onset
2074	ERCC6	HP:0003577	Congenital onset
2074	ERCC6	HP:0002240	Hepatomegaly
2074	ERCC6	HP:0002216	Premature graying of hair
2074	ERCC6	HP:0002283	Global brain atrophy
2074	ERCC6	HP:0008366	Foot joint contracture
2074	ERCC6	HP:0010665	Bilateral coxa valga
2074	ERCC6	HP:0011968	Feeding difficulties
2074	ERCC6	HP:0003510	Severe short stature
2074	ERCC6	HP:0001034	Hypermelanotic macule
2074	ERCC6	HP:0001036	Parakeratosis
2074	ERCC6	HP:0002360	Sleep disturbance
2074	ERCC6	HP:0001029	Poikiloderma
2074	ERCC6	HP:0002344	Progressive neurologic deterioration
2074	ERCC6	HP:0002343	Normal pressure hydrocephalus
2074	ERCC6	HP:0001009	Telangiectasia
2074	ERCC6	HP:0001007	Hirsutism
2074	ERCC6	HP:0002355	Difficulty walking
2074	ERCC6	HP:0002317	Unsteady gait
2074	ERCC6	HP:0001000	Abnormality of skin pigmentation
2074	ERCC6	HP:0009830	Peripheral neuropathy
2074	ERCC6	HP:0001097	Keratoconjunctivitis sicca
2074	ERCC6	HP:0100699	Scarring
2074	ERCC6	HP:0007108	Demyelinating peripheral neuropathy
2074	ERCC6	HP:0004934	Vascular calcification
2074	ERCC6	HP:0000639	Nystagmus
2074	ERCC6	HP:0000633	Decreased lacrimation
2074	ERCC6	HP:0000649	Abnormality of visual evoked potentials
2074	ERCC6	HP:0000648	Optic atrophy
2074	ERCC6	HP:0000616	Miosis
2074	ERCC6	HP:0000613	Photophobia
2074	ERCC6	HP:0001944	Dehydration
2074	ERCC6	HP:0001942	Metabolic acidosis
2074	ERCC6	HP:0000621	Entropion
2074	ERCC6	HP:0001903	Anemia
2074	ERCC6	HP:0011359	Dry hair
2074	ERCC6	HP:0011344	Severe global developmental delay
2074	ERCC6	HP:0000684	Delayed eruption of teeth
2074	ERCC6	HP:0000680	Delayed eruption of primary teeth
2074	ERCC6	HP:0000674	Anodontia
2074	ERCC6	HP:0000689	Dental malocclusion
2074	ERCC6	HP:0000685	Hypoplasia of teeth
2074	ERCC6	HP:0000656	Ectropion
2074	ERCC6	HP:0000670	Carious teeth
2074	ERCC6	HP:0001999	Abnormal facial shape
2074	ERCC6	HP:0004322	Short stature
2074	ERCC6	HP:0004334	Dermal atrophy
2074	ERCC6	HP:0004302	Functional motor deficit
2074	ERCC6	HP:0006958	Abnormal auditory evoked potentials
2074	ERCC6	HP:0003079	Defective DNA repair after ultraviolet radiation damage
2074	ERCC6	HP:0004370	Abnormality of temperature regulation
2074	ERCC6	HP:0000762	Decreased nerve conduction velocity
2074	ERCC6	HP:0000707	Abnormality of the nervous system
2074	ERCC6	HP:0011463	Childhood onset
2074	ERCC6	HP:0011462	Young adult onset
2074	ERCC6	HP:0012758	Neurodevelopmental delay
2074	ERCC6	HP:0012762	Cerebral white matter atrophy
2074	ERCC6	HP:0100309	Subdural hemorrhage
2074	ERCC6	HP:0003134	Abnormality of peripheral nerve conduction
2074	ERCC6	HP:0004463	Absent brainstem auditory responses
2074	ERCC6	HP:0003130	Abnormal peripheral myelination
2074	ERCC6	HP:0003138	Increased blood urea nitrogen
2074	ERCC6	HP:0000876	Oligomenorrhea
2074	ERCC6	HP:0011527	Lentiglobus
2074	ERCC6	HP:0000855	Insulin resistance
2074	ERCC6	HP:0000869	Secondary amenorrhea
2074	ERCC6	HP:0012804	Corneal ulceration
2074	ERCC6	HP:0000822	Hypertension
2074	ERCC6	HP:0010234	Ivory epiphyses of the phalanges of the hand
2074	ERCC6	HP:0040078	Axonal degeneration
2074	ERCC6	HP:0003224	Increased cellular sensitivity to UV light
2074	ERCC6	HP:0003202	Skeletal muscle atrophy
2074	ERCC6	HP:0003278	Square pelvis bone
2074	ERCC6	HP:0000992	Cutaneous photosensitivity
2074	ERCC6	HP:0000987	Atypical scarring of skin
2074	ERCC6	HP:0000958	Dry skin
2074	ERCC6	HP:0000970	Anhidrosis
2074	ERCC6	HP:0000966	Hypohidrosis
2074	ERCC6	HP:0000939	Osteoporosis
2074	ERCC6	HP:0008070	Sparse hair
2074	ERCC6	HP:0011675	Arrhythmia
2074	ERCC6	HP:0007703	Abnormality of retinal pigmentation
2074	ERCC6	HP:0000292	Loss of facial adipose tissue
2074	ERCC6	HP:0001595	Abnormal hair morphology
2074	ERCC6	HP:0000276	Long face
2074	ERCC6	HP:0007759	Opacification of the corneal stroma
2074	ERCC6	HP:0005105	Abnormal nasal morphology
2074	ERCC6	HP:0030078	Lung adenocarcinoma
2074	ERCC6	HP:0002808	Kyphosis
2074	ERCC6	HP:0002804	Arthrogryposis multiplex congenita
2074	ERCC6	HP:0006380	Knee flexion contracture
2074	ERCC6	HP:0000253	Progressive microcephaly
2074	ERCC6	HP:0000252	Microcephaly
2074	ERCC6	HP:0000233	Thin vermilion border
2074	ERCC6	HP:0000232	Everted lower lip vermilion
2074	ERCC6	HP:0002861	Melanoma
2074	ERCC6	HP:0001530	Mild postnatal growth retardation
2074	ERCC6	HP:0001525	Severe failure to thrive
2074	ERCC6	HP:0001522	Death in infancy
2074	ERCC6	HP:0002866	Hypoplastic iliac wing
2074	ERCC6	HP:0001508	Failure to thrive
2074	ERCC6	HP:0001518	Small for gestational age
2074	ERCC6	HP:0001511	Intrauterine growth retardation
2074	ERCC6	HP:0012385	Camptodactyly
2074	ERCC6	HP:0000377	Abnormal pinna morphology
2074	ERCC6	HP:0006532	Recurrent pneumonia
2074	ERCC6	HP:0006519	Alveolar cell carcinoma
2074	ERCC6	HP:0002910	Elevated hepatic transaminase
2074	ERCC6	HP:0005181	Premature coronary artery atherosclerosis
2074	ERCC6	HP:0000365	Hearing impairment
2074	ERCC6	HP:0000340	Sloping forehead
2074	ERCC6	HP:0000343	Long philtrum
2074	ERCC6	HP:0000347	Micrognathia
2074	ERCC6	HP:0000331	Short chin
2074	ERCC6	HP:0002987	Elbow flexion contracture
2074	ERCC6	HP:0000325	Triangular face
2074	ERCC6	HP:0001638	Cardiomyopathy
2074	ERCC6	HP:0000303	Mandibular prognathia
2074	ERCC6	HP:0006610	Wide intermamillary distance
2074	ERCC6	HP:0005328	Progeroid facial appearance
2074	ERCC6	HP:0000407	Sensorineural hearing impairment
2074	ERCC6	HP:0000405	Conductive hearing impairment
2074	ERCC6	HP:0000400	Macrotia
2074	ERCC6	HP:0000486	Strabismus
2074	ERCC6	HP:0000482	Microcornea
2074	ERCC6	HP:0000491	Keratitis
2074	ERCC6	HP:0000490	Deeply set eye
2074	ERCC6	HP:0000460	Narrow nose
2074	ERCC6	HP:0012448	Delayed myelination
2074	ERCC6	HP:0012444	Brain atrophy
2074	ERCC6	HP:0012447	Abnormal myelination
2074	ERCC6	HP:0000470	Short neck
2074	ERCC6	HP:0000448	Prominent nose
2074	ERCC6	HP:0012407	Scissor gait
2074	ERCC6	HP:0000417	Slender nose
2074	ERCC6	HP:0001744	Splenomegaly
2074	ERCC6	HP:0000431	Wide nasal bridge
2074	ERCC6	HP:0000426	Prominent nasal bridge
2074	ERCC6	HP:0005487	Prominent metopic ridge
2074	ERCC6	HP:0000518	Cataract
2074	ERCC6	HP:0000519	Developmental cataract
2074	ERCC6	HP:0000528	Anophthalmia
2074	ERCC6	HP:0001838	Rocker bottom foot
2074	ERCC6	HP:0000509	Conjunctivitis
2074	ERCC6	HP:0000505	Visual impairment
2074	ERCC6	HP:0000598	Abnormality of the ear
2074	ERCC6	HP:0030358	Non-small cell lung carcinoma
2074	ERCC6	HP:0000581	Blepharophimosis
2074	ERCC6	HP:0000580	Pigmentary retinopathy
2074	ERCC6	HP:0000554	Uveitis
2074	ERCC6	HP:0000556	Retinal dystrophy
2074	ERCC6	HP:0000573	Retinal hemorrhage
2074	ERCC6	HP:0000568	Microphthalmia
2074	ERCC6	HP:0000540	Hypermetropia
2074	ERCC6	HP:0001883	Talipes
2074	ERCC6	HP:0000546	Retinal degeneration
2074	ERCC6	HP:0000543	Optic disc pallor
2077	ERF	HP:0001156	Brachydactyly
2077	ERF	HP:0001290	Generalized hypotonia
2077	ERF	HP:0002516	Increased intracranial pressure
2077	ERF	HP:0000006	Autosomal dominant inheritance
2077	ERF	HP:0001321	Cerebellar hypoplasia
2077	ERF	HP:0000189	Narrow palate
2077	ERF	HP:0002780	Bronchomalacia
2077	ERF	HP:0002779	Tracheomalacia
2077	ERF	HP:0002000	Short columella
2077	ERF	HP:0002007	Frontal bossing
2077	ERF	HP:0011800	Midface retrusion
2077	ERF	HP:0002098	Respiratory distress
2077	ERF	HP:0002093	Respiratory insufficiency
2077	ERF	HP:0011755	Ectopic posterior pituitary
2077	ERF	HP:0003593	Infantile onset
2077	ERF	HP:0002205	Recurrent respiratory infections
2077	ERF	HP:0007099	Chiari type I malformation
2077	ERF	HP:0001053	Hypopigmented skin patches
2077	ERF	HP:0002315	Headache
2077	ERF	HP:0002308	Chiari malformation
2077	ERF	HP:0000646	Amblyopia
2077	ERF	HP:0000648	Optic atrophy
2077	ERF	HP:0000612	Iris coloboma
2077	ERF	HP:0000609	Optic nerve hypoplasia
2077	ERF	HP:0011386	Narrow internal auditory canal
2077	ERF	HP:0011325	Pansynostosis
2077	ERF	HP:0011324	Multiple suture craniosynostosis
2077	ERF	HP:0011330	Metopic synostosis
2077	ERF	HP:0011318	Bicoronal synostosis
2077	ERF	HP:0001999	Abnormal facial shape
2077	ERF	HP:0004322	Short stature
2077	ERF	HP:0031987	Diminished ability to concentrate
2077	ERF	HP:0000767	Pectus excavatum
2077	ERF	HP:0000750	Delayed speech and language development
2077	ERF	HP:0011463	Childhood onset
2077	ERF	HP:0004443	Lambdoidal craniosynostosis
2077	ERF	HP:0004442	Sagittal craniosynostosis
2077	ERF	HP:0004440	Coronal craniosynostosis
2077	ERF	HP:0000929	Abnormal skull morphology
2077	ERF	HP:0000995	Melanocytic nevus
2077	ERF	HP:0000956	Acanthosis nigricans
2077	ERF	HP:0000278	Retrognathia
2077	ERF	HP:0000262	Turricephaly
2077	ERF	HP:0000256	Macrocephaly
2077	ERF	HP:0000272	Malar flattening
2077	ERF	HP:0000268	Dolichocephaly
2077	ERF	HP:0000269	Prominent occiput
2077	ERF	HP:0005107	Abnormal sacrum morphology
2077	ERF	HP:0000238	Hydrocephalus
2077	ERF	HP:0000248	Brachycephaly
2077	ERF	HP:0001561	Polyhydramnios
2077	ERF	HP:0006530	Abnormal pulmonary interstitial morphology
2077	ERF	HP:0000365	Hearing impairment
2077	ERF	HP:0000348	High forehead
2077	ERF	HP:0000316	Hypertelorism
2077	ERF	HP:0000327	Hypoplasia of the maxilla
2077	ERF	HP:0000405	Conductive hearing impairment
2077	ERF	HP:0005280	Depressed nasal bridge
2077	ERF	HP:0000486	Strabismus
2077	ERF	HP:0012471	Thick vermilion border
2077	ERF	HP:0000463	Anteverted nares
2077	ERF	HP:0000453	Choanal atresia
2077	ERF	HP:0000444	Convex nasal ridge
2077	ERF	HP:0000520	Proptosis
2077	ERF	HP:0001822	Hallux valgus
2077	ERF	HP:0000509	Conjunctivitis
2077	ERF	HP:0000508	Ptosis
2077	ERF	HP:0011220	Prominent forehead
2099	ESR1	HP:0025134	Increased serum estradiol
2099	ESR1	HP:0003799	Marked delay in bone age
2099	ESR1	HP:0002574	Episodic abdominal pain
2099	ESR1	HP:0008675	Enlarged polycystic ovaries
2099	ESR1	HP:0000098	Tall stature
2099	ESR1	HP:0002663	Delayed epiphyseal ossification
2099	ESR1	HP:0000013	Hypoplasia of the uterus
2099	ESR1	HP:0000007	Autosomal recessive inheritance
2099	ESR1	HP:0000006	Autosomal dominant inheritance
2099	ESR1	HP:0000147	Polycystic ovaries
2099	ESR1	HP:0001428	Somatic mutation
2099	ESR1	HP:0002750	Delayed skeletal maturation
2099	ESR1	HP:0002018	Nausea
2099	ESR1	HP:0002013	Vomiting
2099	ESR1	HP:0002083	Migraine without aura
2099	ESR1	HP:0002077	Migraine with aura
2099	ESR1	HP:0040270	Impaired glucose tolerance
2099	ESR1	HP:0008197	Absence of pubertal development
2099	ESR1	HP:0008187	Absence of secondary sex characteristics
2099	ESR1	HP:0002183	Phonophobia
2099	ESR1	HP:0100783	Breast aplasia
2099	ESR1	HP:0010679	Elevated tissue non-specific alkaline phosphatase
2099	ESR1	HP:0010639	Elevated alkaline phosphatase of bone origin
2099	ESR1	HP:0001061	Acne
2099	ESR1	HP:0003621	Juvenile onset
2099	ESR1	HP:0100133	Abnormality of the pubic hair
2099	ESR1	HP:0000613	Photophobia
2099	ESR1	HP:0001952	Glucose intolerance
2099	ESR1	HP:0003002	Breast carcinoma
2099	ESR1	HP:0000786	Primary amenorrhea
2099	ESR1	HP:0003117	Abnormal circulating hormone concentration
2099	ESR1	HP:0003187	Breast hypoplasia
2099	ESR1	HP:0000837	Increased circulating gonadotropin level
2099	ESR1	HP:0000834	Abnormality of the adrenal glands
2099	ESR1	HP:0000842	Hyperinsulinemia
2099	ESR1	HP:0000823	Delayed puberty
2099	ESR1	HP:0000956	Acanthosis nigricans
2099	ESR1	HP:0000939	Osteoporosis
2099	ESR1	HP:0000938	Osteopenia
2099	ESR1	HP:0030087	Abnormal circulating testosterone concentration
2099	ESR1	HP:0001548	Overgrowth
2099	ESR1	HP:0031428	Increased circulating osteocalcin level
2099	ESR1	HP:0001677	Coronary artery atherosclerosis
2100	ESR2	HP:0003782	Eunuchoid habitus
2100	ESR2	HP:0000059	Hypoplastic labia majora
2100	ESR2	HP:0000006	Autosomal dominant inheritance
2100	ESR2	HP:0008232	Elevated circulating follicle stimulating hormone level
2100	ESR2	HP:0011969	Elevated circulating luteinizing hormone level
2100	ESR2	HP:0000786	Primary amenorrhea
2100	ESR2	HP:0000939	Osteoporosis
2103	ESRRB	HP:0000007	Autosomal recessive inheritance
2103	ESRRB	HP:0003577	Congenital onset
2103	ESRRB	HP:0000407	Sensorineural hearing impairment
2103	ESRRB	HP:0031703	Abnormal ear morphology
2103	ESRRB	HP:0000504	Abnormality of vision
2108	ETFA	HP:0001252	Hypotonia
2108	ETFA	HP:0003811	Neonatal death
2108	ETFA	HP:0001397	Hepatic steatosis
2108	ETFA	HP:0000078	Abnormality of the genital system
2108	ETFA	HP:0001324	Muscle weakness
2108	ETFA	HP:0001325	Hypoglycemic coma
2108	ETFA	HP:0000007	Autosomal recessive inheritance
2108	ETFA	HP:0001302	Pachygyria
2108	ETFA	HP:0002614	Hepatic periportal necrosis
2108	ETFA	HP:0000114	Proximal tubulopathy
2108	ETFA	HP:0000113	Polycystic kidney dysplasia
2108	ETFA	HP:0002018	Nausea
2108	ETFA	HP:0002013	Vomiting
2108	ETFA	HP:0002089	Pulmonary hypoplasia
2108	ETFA	HP:0002098	Respiratory distress
2108	ETFA	HP:0002171	Gliosis
2108	ETFA	HP:0002240	Hepatomegaly
2108	ETFA	HP:0003530	Elevated circulating glutaric acid concentration
2108	ETFA	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect
2108	ETFA	HP:0001943	Hypoglycemia
2108	ETFA	HP:0001941	Acidosis
2108	ETFA	HP:0001999	Abnormal facial shape
2108	ETFA	HP:0003076	Glycosuria
2108	ETFA	HP:0000803	Renal cortical cysts
2108	ETFA	HP:0003150	Glutaric aciduria
2108	ETFA	HP:0003219	Ethylmalonic aciduria
2108	ETFA	HP:0000952	Jaundice
2108	ETFA	HP:0000260	Wide anterior fontanel
2108	ETFA	HP:0000256	Macrocephaly
2108	ETFA	HP:0000377	Abnormal pinna morphology
2108	ETFA	HP:0002909	Generalized aminoaciduria
2108	ETFA	HP:0000348	High forehead
2108	ETFA	HP:0005280	Depressed nasal bridge
2108	ETFA	HP:0000519	Developmental cataract
2108	ETFA	HP:0000506	Telecanthus
2109	ETFB	HP:0001252	Hypotonia
2109	ETFB	HP:0003811	Neonatal death
2109	ETFB	HP:0001397	Hepatic steatosis
2109	ETFB	HP:0000078	Abnormality of the genital system
2109	ETFB	HP:0001324	Muscle weakness
2109	ETFB	HP:0001325	Hypoglycemic coma
2109	ETFB	HP:0000007	Autosomal recessive inheritance
2109	ETFB	HP:0001302	Pachygyria
2109	ETFB	HP:0002614	Hepatic periportal necrosis
2109	ETFB	HP:0000114	Proximal tubulopathy
2109	ETFB	HP:0000113	Polycystic kidney dysplasia
2109	ETFB	HP:0002018	Nausea
2109	ETFB	HP:0002013	Vomiting
2109	ETFB	HP:0002089	Pulmonary hypoplasia
2109	ETFB	HP:0002098	Respiratory distress
2109	ETFB	HP:0002171	Gliosis
2109	ETFB	HP:0002240	Hepatomegaly
2109	ETFB	HP:0003530	Elevated circulating glutaric acid concentration
2109	ETFB	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect
2109	ETFB	HP:0001943	Hypoglycemia
2109	ETFB	HP:0001941	Acidosis
2109	ETFB	HP:0001999	Abnormal facial shape
2109	ETFB	HP:0003076	Glycosuria
2109	ETFB	HP:0000803	Renal cortical cysts
2109	ETFB	HP:0003150	Glutaric aciduria
2109	ETFB	HP:0003219	Ethylmalonic aciduria
2109	ETFB	HP:0000952	Jaundice
2109	ETFB	HP:0000260	Wide anterior fontanel
2109	ETFB	HP:0000256	Macrocephaly
2109	ETFB	HP:0000377	Abnormal pinna morphology
2109	ETFB	HP:0002909	Generalized aminoaciduria
2109	ETFB	HP:0000348	High forehead
2109	ETFB	HP:0005280	Depressed nasal bridge
2109	ETFB	HP:0000519	Developmental cataract
2109	ETFB	HP:0000506	Telecanthus
2110	ETFDH	HP:0001252	Hypotonia
2110	ETFDH	HP:0003811	Neonatal death
2110	ETFDH	HP:0001397	Hepatic steatosis
2110	ETFDH	HP:0000078	Abnormality of the genital system
2110	ETFDH	HP:0001324	Muscle weakness
2110	ETFDH	HP:0001325	Hypoglycemic coma
2110	ETFDH	HP:0000007	Autosomal recessive inheritance
2110	ETFDH	HP:0001302	Pachygyria
2110	ETFDH	HP:0002614	Hepatic periportal necrosis
2110	ETFDH	HP:0000114	Proximal tubulopathy
2110	ETFDH	HP:0000113	Polycystic kidney dysplasia
2110	ETFDH	HP:0002018	Nausea
2110	ETFDH	HP:0002013	Vomiting
2110	ETFDH	HP:0002089	Pulmonary hypoplasia
2110	ETFDH	HP:0002098	Respiratory distress
2110	ETFDH	HP:0002171	Gliosis
2110	ETFDH	HP:0002240	Hepatomegaly
2110	ETFDH	HP:0003530	Elevated circulating glutaric acid concentration
2110	ETFDH	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect
2110	ETFDH	HP:0001943	Hypoglycemia
2110	ETFDH	HP:0001941	Acidosis
2110	ETFDH	HP:0001999	Abnormal facial shape
2110	ETFDH	HP:0003076	Glycosuria
2110	ETFDH	HP:0000803	Renal cortical cysts
2110	ETFDH	HP:0003150	Glutaric aciduria
2110	ETFDH	HP:0003219	Ethylmalonic aciduria
2110	ETFDH	HP:0000952	Jaundice
2110	ETFDH	HP:0000260	Wide anterior fontanel
2110	ETFDH	HP:0000256	Macrocephaly
2110	ETFDH	HP:0000377	Abnormal pinna morphology
2110	ETFDH	HP:0002909	Generalized aminoaciduria
2110	ETFDH	HP:0000348	High forehead
2110	ETFDH	HP:0005280	Depressed nasal bridge
2110	ETFDH	HP:0000519	Developmental cataract
2110	ETFDH	HP:0000506	Telecanthus
2120	ETV6	HP:0000006	Autosomal dominant inheritance
2120	ETV6	HP:0001428	Somatic mutation
2120	ETV6	HP:0004808	Acute myeloid leukemia
2120	ETV6	HP:0001903	Anemia
2120	ETV6	HP:0000978	Bruising susceptibility
2120	ETV6	HP:0000967	Petechiae
2120	ETV6	HP:0000421	Epistaxis
2120	ETV6	HP:0001873	Thrombocytopenia
2120	ETV6	HP:0001875	Neutropenia
2121	EVC	HP:0002488	Acute leukemia
2121	EVC	HP:0001156	Brachydactyly
2121	EVC	HP:0001162	Postaxial hand polydactyly
2121	EVC	HP:0001161	Hand polydactyly
2121	EVC	HP:0009882	Short distal phalanx of finger
2121	EVC	HP:0001249	Intellectual disability
2121	EVC	HP:0001231	Abnormal fingernail morphology
2121	EVC	HP:0001241	Capitate-hamate fusion
2121	EVC	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5
2121	EVC	HP:0008678	Renal hypoplasia/aplasia
2121	EVC	HP:0000077	Abnormality of the kidney
2121	EVC	HP:0000072	Hydroureter
2121	EVC	HP:0000069	Abnormality of the ureter
2121	EVC	HP:0000039	Epispadias
2121	EVC	HP:0000047	Hypospadias
2121	EVC	HP:0000028	Cryptorchidism
2121	EVC	HP:0008873	Disproportionate short-limb short stature
2121	EVC	HP:0000008	Abnormal morphology of female internal genitalia
2121	EVC	HP:0000007	Autosomal recessive inheritance
2121	EVC	HP:0000006	Autosomal dominant inheritance
2121	EVC	HP:0001305	Dandy-Walker malformation
2121	EVC	HP:0002644	Abnormal pelvic girdle bone morphology
2121	EVC	HP:0008921	Neonatal short-limb short stature
2121	EVC	HP:0000190	Abnormal oral frenulum morphology
2121	EVC	HP:0000164	Abnormality of the dentition
2121	EVC	HP:0006315	Solitary median maxillary central incisor
2121	EVC	HP:0006288	Advanced eruption of teeth
2121	EVC	HP:0002750	Delayed skeletal maturation
2121	EVC	HP:0002006	Facial cleft
2121	EVC	HP:0002097	Emphysema
2121	EVC	HP:0010454	Acetabular spurs
2121	EVC	HP:0002164	Nail dysplasia
2121	EVC	HP:0010557	Overlapping fingers
2121	EVC	HP:0011830	Abnormal oral mucosa morphology
2121	EVC	HP:0009738	Abnormal antihelix morphology
2121	EVC	HP:0008404	Nail dystrophy
2121	EVC	HP:0100797	Toenail dysplasia
2121	EVC	HP:0003502	Mild short stature
2121	EVC	HP:0008388	Abnormal toenail morphology
2121	EVC	HP:0200055	Small hand
2121	EVC	HP:0004209	Clinodactyly of the 5th finger
2121	EVC	HP:0004279	Short palm
2121	EVC	HP:0005561	Abnormality of bone marrow cell morphology
2121	EVC	HP:0000601	Hypotelorism
2121	EVC	HP:0011362	Abnormal hair quantity
2121	EVC	HP:0000698	Conical tooth
2121	EVC	HP:0000684	Delayed eruption of teeth
2121	EVC	HP:0000695	Natal tooth
2121	EVC	HP:0000691	Microdontia
2121	EVC	HP:0000668	Hypodontia
2121	EVC	HP:0030680	Abnormality of cardiovascular system morphology
2121	EVC	HP:0003026	Short long bone
2121	EVC	HP:0000768	Pectus carinatum
2121	EVC	HP:0000774	Narrow chest
2121	EVC	HP:0000773	Short ribs
2121	EVC	HP:0000924	Abnormality of the skeletal system
2121	EVC	HP:0000888	Horizontal ribs
2121	EVC	HP:0011565	Common atrium
2121	EVC	HP:0010306	Short thorax
2121	EVC	HP:0000968	Ectodermal dysplasia
2121	EVC	HP:0001595	Abnormal hair morphology
2121	EVC	HP:0001597	Abnormality of the nail
2121	EVC	HP:0006477	Abnormality of the alveolar ridges
2121	EVC	HP:0005048	Synostosis of carpal bones
2121	EVC	HP:0000233	Thin vermilion border
2121	EVC	HP:0002857	Genu valgum
2121	EVC	HP:0002866	Hypoplastic iliac wing
2121	EVC	HP:0000204	Cleft upper lip
2121	EVC	HP:0001508	Failure to thrive
2121	EVC	HP:0001511	Intrauterine growth retardation
2121	EVC	HP:0011065	Conical incisor
2121	EVC	HP:0000395	Prominent antihelix
2121	EVC	HP:0001696	Situs inversus totalis
2121	EVC	HP:0002983	Micromelia
2121	EVC	HP:0001651	Dextrocardia
2121	EVC	HP:0001654	Abnormal heart valve morphology
2121	EVC	HP:0001629	Ventricular septal defect
2121	EVC	HP:0002967	Cubitus valgus
2121	EVC	HP:0001631	Atrial septal defect
2121	EVC	HP:0006695	Atrioventricular canal defect
2121	EVC	HP:0000486	Strabismus
2121	EVC	HP:0001792	Small nail
2121	EVC	HP:0001762	Talipes equinovarus
2121	EVC	HP:0006703	Aplasia/Hypoplasia of the lungs
2121	EVC	HP:0001829	Foot polydactyly
2121	EVC	HP:0001830	Postaxial foot polydactyly
2121	EVC	HP:0001800	Hypoplastic toenails
2122	MECOM	HP:0001256	Intellectual disability, mild
2122	MECOM	HP:0006101	Finger syndactyly
2122	MECOM	HP:0001385	Hip dysplasia
2122	MECOM	HP:0000034	Hydrocele testis
2122	MECOM	HP:0000006	Autosomal dominant inheritance
2122	MECOM	HP:0000175	Cleft palate
2122	MECOM	HP:0001433	Hepatosplenomegaly
2122	MECOM	HP:0010557	Overlapping fingers
2122	MECOM	HP:0004859	Amegakaryocytic thrombocytopenia
2122	MECOM	HP:0004209	Clinodactyly of the 5th finger
2122	MECOM	HP:0001903	Anemia
2122	MECOM	HP:0001905	Congenital thrombocytopenia
2122	MECOM	HP:0009295	Short middle phalanx of the 4th finger
2122	MECOM	HP:0006394	Limited pronation/supination of forearm
2122	MECOM	HP:0002974	Radioulnar synostosis
2122	MECOM	HP:0000407	Sensorineural hearing impairment
2122	MECOM	HP:0001789	Hydrops fetalis
2122	MECOM	HP:0001873	Thrombocytopenia
2122	MECOM	HP:0001875	Neutropenia
2130	EWSR1	HP:0002585	Abnormality of the peritoneum
2130	EWSR1	HP:0002595	Ileus
2130	EWSR1	HP:0001428	Somatic mutation
2130	EWSR1	HP:0002716	Lymphadenopathy
2130	EWSR1	HP:0002017	Nausea and vomiting
2130	EWSR1	HP:0002027	Abdominal pain
2130	EWSR1	HP:0100526	Neoplasm of the lung
2130	EWSR1	HP:0002240	Hepatomegaly
2130	EWSR1	HP:0100721	Mediastinal lymphadenopathy
2130	EWSR1	HP:0100615	Ovarian neoplasm
2130	EWSR1	HP:0010788	Testicular neoplasm
2130	EWSR1	HP:0001903	Anemia
2130	EWSR1	HP:0004326	Cachexia
2130	EWSR1	HP:0100006	Neoplasm of the central nervous system
2130	EWSR1	HP:0003270	Abdominal distention
2130	EWSR1	HP:0100242	Sarcoma
2130	EWSR1	HP:0012254	Ewing sarcoma
2130	EWSR1	HP:0002894	Neoplasm of the pancreas
2130	EWSR1	HP:0001541	Ascites
2130	EWSR1	HP:0001824	Weight loss
2131	EXT1	HP:0001156	Brachydactyly
2131	EXT1	HP:0009928	Thick nasal alae
2131	EXT1	HP:0001191	Abnormal carpal morphology
2131	EXT1	HP:0025232	Bursitis
2131	EXT1	HP:0001252	Hypotonia
2131	EXT1	HP:0001249	Intellectual disability
2131	EXT1	HP:0008800	Limited hip movement
2131	EXT1	HP:0000076	Vesicoureteral reflux
2131	EXT1	HP:0001376	Limitation of joint mobility
2131	EXT1	HP:0001373	Joint dislocation
2131	EXT1	HP:0001369	Arthritis
2131	EXT1	HP:0001385	Hip dysplasia
2131	EXT1	HP:0000016	Urinary retention
2131	EXT1	HP:0000010	Recurrent urinary tract infections
2131	EXT1	HP:0002673	Coxa valga
2131	EXT1	HP:0000006	Autosomal dominant inheritance
2131	EXT1	HP:0002653	Bone pain
2131	EXT1	HP:0003977	Deformed radius
2131	EXT1	HP:0003959	Deformed forearm bones
2131	EXT1	HP:0000164	Abnormality of the dentition
2131	EXT1	HP:0012151	Hemothorax
2131	EXT1	HP:0000174	Abnormal palate morphology
2131	EXT1	HP:0007598	Bilateral single transverse palmar creases
2131	EXT1	HP:0032510	Tendon pain
2131	EXT1	HP:0002762	Multiple exostoses
2131	EXT1	HP:0002763	Abnormal cartilage morphology
2131	EXT1	HP:0001428	Somatic mutation
2131	EXT1	HP:0002750	Delayed skeletal maturation
2131	EXT1	HP:0004684	Talipes valgus
2131	EXT1	HP:0002002	Deep philtrum
2131	EXT1	HP:0003330	Abnormal bone structure
2131	EXT1	HP:0003326	Myalgia
2131	EXT1	HP:0002015	Dysphagia
2131	EXT1	HP:0100555	Asymmetric growth
2131	EXT1	HP:0100559	Lower limb asymmetry
2131	EXT1	HP:0003396	Syringomyelia
2131	EXT1	HP:0005922	Abnormal hand morphology
2131	EXT1	HP:0002144	Tethered cord
2131	EXT1	HP:0003474	Somatic sensory dysfunction
2131	EXT1	HP:0002119	Ventriculomegaly
2131	EXT1	HP:0002107	Pneumothorax
2131	EXT1	HP:0003406	Peripheral nerve compression
2131	EXT1	HP:0002176	Spinal cord compression
2131	EXT1	HP:0010501	Limitation of knee mobility
2131	EXT1	HP:0002209	Sparse scalp hair
2131	EXT1	HP:0100777	Exostoses
2131	EXT1	HP:0100749	Chest pain
2131	EXT1	HP:0002318	Cervical myelopathy
2131	EXT1	HP:0009826	Limb undergrowth
2131	EXT1	HP:0009821	Forearm undergrowth
2131	EXT1	HP:0020110	Bone fracture
2131	EXT1	HP:0008443	Neuropathic spinal arthropathy
2131	EXT1	HP:0003621	Juvenile onset
2131	EXT1	HP:0010049	Short metacarpal
2131	EXT1	HP:0004322	Short stature
2131	EXT1	HP:0004302	Functional motor deficit
2131	EXT1	HP:0030680	Abnormality of cardiovascular system morphology
2131	EXT1	HP:0003068	Madelung-like forearm deformities
2131	EXT1	HP:0005692	Joint hyperflexibility
2131	EXT1	HP:0003016	Metaphyseal widening
2131	EXT1	HP:0003026	Short long bone
2131	EXT1	HP:0011463	Childhood onset
2131	EXT1	HP:0009118	Aplasia/Hypoplasia of the mandible
2131	EXT1	HP:0003105	Protuberances at ends of long bones
2131	EXT1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
2131	EXT1	HP:0000918	Scapular exostoses
2131	EXT1	HP:0040071	Abnormal morphology of ulna
2131	EXT1	HP:0040069	Abnormal lower limb bone morphology
2131	EXT1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
2131	EXT1	HP:0000896	Rib exostoses
2131	EXT1	HP:0030883	Femoroacetabular impingement
2131	EXT1	HP:0003276	Pelvic bone exostoses
2131	EXT1	HP:0040163	Abnormal pelvis bone morphology
2131	EXT1	HP:0002815	Abnormality of the knee
2131	EXT1	HP:0002812	Coxa vara
2131	EXT1	HP:0002823	Abnormality of femur morphology
2131	EXT1	HP:0006385	Short lower limbs
2131	EXT1	HP:0005039	Multiple long-bone exostoses
2131	EXT1	HP:0000252	Microcephaly
2131	EXT1	HP:0001582	Redundant skin
2131	EXT1	HP:0000219	Thin upper lip vermilion
2131	EXT1	HP:0002857	Genu valgum
2131	EXT1	HP:0001510	Growth delay
2131	EXT1	HP:0011069	Supernumerary tooth
2131	EXT1	HP:0005214	Intestinal obstruction
2131	EXT1	HP:0006487	Bowing of the long bones
2131	EXT1	HP:0000368	Low-set, posteriorly rotated ears
2131	EXT1	HP:0000343	Long philtrum
2131	EXT1	HP:0002991	Abnormality of fibula morphology
2131	EXT1	HP:0002992	Abnormality of tibia morphology
2131	EXT1	HP:0031625	Pseudoaneurysm
2131	EXT1	HP:0000405	Conductive hearing impairment
2131	EXT1	HP:0000414	Bulbous nose
2131	EXT1	HP:0000411	Protruding ear
2131	EXT1	HP:0000431	Wide nasal bridge
2131	EXT1	HP:0030431	Osteochondroma
2131	EXT1	HP:0006765	Chondrosarcoma
2131	EXT1	HP:0001850	Abnormality of the tarsal bones
2131	EXT1	HP:0000574	Thick eyebrow
2131	EXT1	HP:0012531	Pain
2131	EXT1	HP:0001883	Talipes
2132	EXT2	HP:0002465	Poor speech
2132	EXT2	HP:0001191	Abnormal carpal morphology
2132	EXT2	HP:0010864	Intellectual disability, severe
2132	EXT2	HP:0001270	Motor delay
2132	EXT2	HP:0025232	Bursitis
2132	EXT2	HP:0001256	Intellectual disability, mild
2132	EXT2	HP:0001250	Seizure
2132	EXT2	HP:0002580	Volvulus
2132	EXT2	HP:0001252	Hypotonia
2132	EXT2	HP:0001249	Intellectual disability
2132	EXT2	HP:0001263	Global developmental delay
2132	EXT2	HP:0002566	Intestinal malrotation
2132	EXT2	HP:0002505	Loss of ambulation
2132	EXT2	HP:0000093	Proteinuria
2132	EXT2	HP:0008800	Limited hip movement
2132	EXT2	HP:0000077	Abnormality of the kidney
2132	EXT2	HP:0001376	Limitation of joint mobility
2132	EXT2	HP:0001369	Arthritis
2132	EXT2	HP:0000054	Micropenis
2132	EXT2	HP:0000016	Urinary retention
2132	EXT2	HP:0002697	Parietal foramina
2132	EXT2	HP:0000028	Cryptorchidism
2132	EXT2	HP:0001342	Cerebral hemorrhage
2132	EXT2	HP:0002673	Coxa valga
2132	EXT2	HP:0000007	Autosomal recessive inheritance
2132	EXT2	HP:0002667	Nephroblastoma
2132	EXT2	HP:0000006	Autosomal dominant inheritance
2132	EXT2	HP:0002650	Scoliosis
2132	EXT2	HP:0003977	Deformed radius
2132	EXT2	HP:0003959	Deformed forearm bones
2132	EXT2	HP:0012151	Hemothorax
2132	EXT2	HP:0032510	Tendon pain
2132	EXT2	HP:0002762	Multiple exostoses
2132	EXT2	HP:0002763	Abnormal cartilage morphology
2132	EXT2	HP:0002714	Downturned corners of mouth
2132	EXT2	HP:0004684	Talipes valgus
2132	EXT2	HP:0002020	Gastroesophageal reflux
2132	EXT2	HP:0002018	Nausea
2132	EXT2	HP:0002019	Constipation
2132	EXT2	HP:0002036	Hiatus hernia
2132	EXT2	HP:0003330	Abnormal bone structure
2132	EXT2	HP:0003326	Myalgia
2132	EXT2	HP:0002015	Dysphagia
2132	EXT2	HP:0100555	Asymmetric growth
2132	EXT2	HP:0100559	Lower limb asymmetry
2132	EXT2	HP:0003396	Syringomyelia
2132	EXT2	HP:0005922	Abnormal hand morphology
2132	EXT2	HP:0002144	Tethered cord
2132	EXT2	HP:0003474	Somatic sensory dysfunction
2132	EXT2	HP:0002136	Broad-based gait
2132	EXT2	HP:0002107	Pneumothorax
2132	EXT2	HP:0003406	Peripheral nerve compression
2132	EXT2	HP:0002164	Nail dysplasia
2132	EXT2	HP:0002176	Spinal cord compression
2132	EXT2	HP:0010535	Sleep apnea
2132	EXT2	HP:0010501	Limitation of knee mobility
2132	EXT2	HP:0003593	Infantile onset
2132	EXT2	HP:0003577	Congenital onset
2132	EXT2	HP:0100777	Exostoses
2132	EXT2	HP:0100749	Chest pain
2132	EXT2	HP:0011968	Feeding difficulties
2132	EXT2	HP:0002342	Intellectual disability, moderate
2132	EXT2	HP:0002317	Unsteady gait
2132	EXT2	HP:0002318	Cervical myelopathy
2132	EXT2	HP:0009826	Limb undergrowth
2132	EXT2	HP:0009821	Forearm undergrowth
2132	EXT2	HP:0020110	Bone fracture
2132	EXT2	HP:0008443	Neuropathic spinal arthropathy
2132	EXT2	HP:0003621	Juvenile onset
2132	EXT2	HP:0004209	Clinodactyly of the 5th finger
2132	EXT2	HP:0000639	Nystagmus
2132	EXT2	HP:0001903	Anemia
2132	EXT2	HP:0010049	Short metacarpal
2132	EXT2	HP:0004322	Short stature
2132	EXT2	HP:0004331	Decreased skull ossification
2132	EXT2	HP:0004302	Functional motor deficit
2132	EXT2	HP:0030680	Abnormality of cardiovascular system morphology
2132	EXT2	HP:0003068	Madelung-like forearm deformities
2132	EXT2	HP:0003016	Metaphyseal widening
2132	EXT2	HP:0003026	Short long bone
2132	EXT2	HP:0004349	Reduced bone mineral density
2132	EXT2	HP:0000750	Delayed speech and language development
2132	EXT2	HP:0000717	Autism
2132	EXT2	HP:0000729	Autistic behavior
2132	EXT2	HP:0011463	Childhood onset
2132	EXT2	HP:0003105	Protuberances at ends of long bones
2132	EXT2	HP:0004425	Flat forehead
2132	EXT2	HP:0000918	Scapular exostoses
2132	EXT2	HP:0000826	Precocious puberty
2132	EXT2	HP:0000822	Hypertension
2132	EXT2	HP:0000821	Hypothyroidism
2132	EXT2	HP:0000823	Delayed puberty
2132	EXT2	HP:0040071	Abnormal morphology of ulna
2132	EXT2	HP:0040069	Abnormal lower limb bone morphology
2132	EXT2	HP:0000896	Rib exostoses
2132	EXT2	HP:0030883	Femoroacetabular impingement
2132	EXT2	HP:0003276	Pelvic bone exostoses
2132	EXT2	HP:0000951	Abnormality of the skin
2132	EXT2	HP:0040163	Abnormal pelvis bone morphology
2132	EXT2	HP:0008070	Sparse hair
2132	EXT2	HP:0040183	Encopresis
2132	EXT2	HP:0000286	Epicanthus
2132	EXT2	HP:0000280	Coarse facial features
2132	EXT2	HP:0000256	Macrocephaly
2132	EXT2	HP:0002815	Abnormality of the knee
2132	EXT2	HP:0002812	Coxa vara
2132	EXT2	HP:0002823	Abnormality of femur morphology
2132	EXT2	HP:0006385	Short lower limbs
2132	EXT2	HP:0000252	Microcephaly
2132	EXT2	HP:0000248	Brachycephaly
2132	EXT2	HP:0001561	Polyhydramnios
2132	EXT2	HP:0002857	Genu valgum
2132	EXT2	HP:0000384	Preauricular skin tag
2132	EXT2	HP:0005214	Intestinal obstruction
2132	EXT2	HP:0006487	Bowing of the long bones
2132	EXT2	HP:0000356	Abnormality of the outer ear
2132	EXT2	HP:0000343	Long philtrum
2132	EXT2	HP:0000348	High forehead
2132	EXT2	HP:0000347	Micrognathia
2132	EXT2	HP:0000316	Hypertelorism
2132	EXT2	HP:0001643	Patent ductus arteriosus
2132	EXT2	HP:0002991	Abnormality of fibula morphology
2132	EXT2	HP:0002992	Abnormality of tibia morphology
2132	EXT2	HP:0000322	Short philtrum
2132	EXT2	HP:0001629	Ventricular septal defect
2132	EXT2	HP:0001631	Atrial septal defect
2132	EXT2	HP:0031625	Pseudoaneurysm
2132	EXT2	HP:0005326	Hypoplastic philtrum
2132	EXT2	HP:0000486	Strabismus
2132	EXT2	HP:0000455	Broad nasal tip
2132	EXT2	HP:0000437	Depressed nasal tip
2132	EXT2	HP:0001763	Pes planus
2132	EXT2	HP:0000414	Bulbous nose
2132	EXT2	HP:0000430	Underdeveloped nasal alae
2132	EXT2	HP:0000426	Prominent nasal bridge
2132	EXT2	HP:0030431	Osteochondroma
2132	EXT2	HP:0006765	Chondrosarcoma
2132	EXT2	HP:0001850	Abnormality of the tarsal bones
2132	EXT2	HP:0001845	Overlapping toe
2132	EXT2	HP:0011220	Prominent forehead
2132	EXT2	HP:0012531	Pain
2137	EXTL3	HP:0001177	Preaxial hand polydactyly
2137	EXTL3	HP:0001156	Brachydactyly
2137	EXTL3	HP:0001290	Generalized hypotonia
2137	EXTL3	HP:0001276	Hypertonia
2137	EXTL3	HP:0001270	Motor delay
2137	EXTL3	HP:0001250	Seizure
2137	EXTL3	HP:0001252	Hypotonia
2137	EXTL3	HP:0001249	Intellectual disability
2137	EXTL3	HP:0001265	Hyporeflexia
2137	EXTL3	HP:0001263	Global developmental delay
2137	EXTL3	HP:0001230	Broad metacarpals
2137	EXTL3	HP:0008763	No social interaction
2137	EXTL3	HP:0100865	Broad ischia
2137	EXTL3	HP:0002540	Inability to walk
2137	EXTL3	HP:0001216	Delayed ossification of carpal bones
2137	EXTL3	HP:0008807	Acetabular dysplasia
2137	EXTL3	HP:0000085	Horseshoe kidney
2137	EXTL3	HP:0025336	Delayed ability to sit
2137	EXTL3	HP:0002676	Cloverleaf skull
2137	EXTL3	HP:0001347	Hyperreflexia
2137	EXTL3	HP:0001363	Craniosynostosis
2137	EXTL3	HP:0001328	Specific learning disability
2137	EXTL3	HP:0002656	Epiphyseal dysplasia
2137	EXTL3	HP:0001344	Absent speech
2137	EXTL3	HP:0002673	Coxa valga
2137	EXTL3	HP:0000007	Autosomal recessive inheritance
2137	EXTL3	HP:0000194	Open mouth
2137	EXTL3	HP:0000160	Narrow mouth
2137	EXTL3	HP:0008936	Axial hypotonia
2137	EXTL3	HP:0001407	Hepatic cysts
2137	EXTL3	HP:0002751	Kyphoscoliosis
2137	EXTL3	HP:0002750	Delayed skeletal maturation
2137	EXTL3	HP:0002719	Recurrent infections
2137	EXTL3	HP:0002023	Anal atresia
2137	EXTL3	HP:0002007	Frontal bossing
2137	EXTL3	HP:0003311	Hypoplasia of the odontoid process
2137	EXTL3	HP:0003319	Abnormality of the cervical spine
2137	EXTL3	HP:0002079	Hypoplasia of the corpus callosum
2137	EXTL3	HP:0003375	Narrow greater sciatic notch
2137	EXTL3	HP:0002119	Ventriculomegaly
2137	EXTL3	HP:0002197	Generalized-onset seizure
2137	EXTL3	HP:0003498	Disproportionate short stature
2137	EXTL3	HP:0002179	Opisthotonus
2137	EXTL3	HP:0003577	Congenital onset
2137	EXTL3	HP:0002240	Hepatomegaly
2137	EXTL3	HP:0004894	Laryngotracheal stenosis
2137	EXTL3	HP:0032061	Hypereosinophilia
2137	EXTL3	HP:0002341	Cervical cord compression
2137	EXTL3	HP:0001019	Erythroderma
2137	EXTL3	HP:0009826	Limb undergrowth
2137	EXTL3	HP:0009803	Short phalanx of finger
2137	EXTL3	HP:0008462	Cervical instability
2137	EXTL3	HP:0008445	Cervical spinal canal stenosis
2137	EXTL3	HP:0009768	Broad phalanges of the hand
2137	EXTL3	HP:0003623	Neonatal onset
2137	EXTL3	HP:0002307	Drooling
2137	EXTL3	HP:0000639	Nystagmus
2137	EXTL3	HP:0010049	Short metacarpal
2137	EXTL3	HP:0009062	Infantile axial hypotonia
2137	EXTL3	HP:0009053	Distal lower limb muscle weakness
2137	EXTL3	HP:0011344	Severe global developmental delay
2137	EXTL3	HP:0001999	Abnormal facial shape
2137	EXTL3	HP:0004315	Decreased circulating IgG level
2137	EXTL3	HP:0004313	Decreased circulating antibody level
2137	EXTL3	HP:0005619	Thoracolumbar kyphosis
2137	EXTL3	HP:0003083	Dislocated radial head
2137	EXTL3	HP:0003051	Enlarged metaphyses
2137	EXTL3	HP:0000767	Pectus excavatum
2137	EXTL3	HP:0000765	Abnormal thorax morphology
2137	EXTL3	HP:0000733	Abnormal repetitive mannerisms
2137	EXTL3	HP:0004430	Severe combined immunodeficiency
2137	EXTL3	HP:0003196	Short nose
2137	EXTL3	HP:0000924	Abnormality of the skeletal system
2137	EXTL3	HP:0000926	Platyspondyly
2137	EXTL3	HP:0003189	Long nose
2137	EXTL3	HP:0003090	Hypoplasia of the capital femoral epiphysis
2137	EXTL3	HP:0004565	Severe platyspondyly
2137	EXTL3	HP:0003212	Increased circulating IgE level
2137	EXTL3	HP:0045060	Aplasia/hypoplasia involving bones of the extremities
2137	EXTL3	HP:0100255	Metaphyseal dysplasia
2137	EXTL3	HP:0000954	Single transverse palmar crease
2137	EXTL3	HP:0000960	Sacral dimple
2137	EXTL3	HP:0000280	Coarse facial features
2137	EXTL3	HP:0000293	Full cheeks
2137	EXTL3	HP:0000276	Long face
2137	EXTL3	HP:0002813	Abnormality of limb bone morphology
2137	EXTL3	HP:0002808	Kyphosis
2137	EXTL3	HP:0000253	Progressive microcephaly
2137	EXTL3	HP:0000252	Microcephaly
2137	EXTL3	HP:0000212	Gingival overgrowth
2137	EXTL3	HP:0001561	Polyhydramnios
2137	EXTL3	HP:0001522	Death in infancy
2137	EXTL3	HP:0002867	Abnormal ilium morphology
2137	EXTL3	HP:0002850	Decreased circulating total IgM
2137	EXTL3	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
2137	EXTL3	HP:0006532	Recurrent pneumonia
2137	EXTL3	HP:0002938	Lumbar hyperlordosis
2137	EXTL3	HP:0000343	Long philtrum
2137	EXTL3	HP:0002996	Limited elbow movement
2137	EXTL3	HP:0000347	Micrognathia
2137	EXTL3	HP:0000316	Hypertelorism
2137	EXTL3	HP:0002987	Elbow flexion contracture
2137	EXTL3	HP:0001634	Mitral valve prolapse
2137	EXTL3	HP:0011166	Focal myoclonic seizure
2137	EXTL3	HP:0030320	Increased intervertebral space
2137	EXTL3	HP:0005306	Capillary hemangioma
2137	EXTL3	HP:0005280	Depressed nasal bridge
2137	EXTL3	HP:0000490	Deeply set eye
2137	EXTL3	HP:0000463	Anteverted nares
2137	EXTL3	HP:0000455	Broad nasal tip
2137	EXTL3	HP:0000448	Prominent nose
2137	EXTL3	HP:0000414	Bulbous nose
2137	EXTL3	HP:0005407	Decreased proportion of CD4-positive helper T cells
2137	EXTL3	HP:0005415	Decreased proportion of CD8-positive T cells
2137	EXTL3	HP:0005403	T lymphocytopenia
2137	EXTL3	HP:0000520	Proptosis
2137	EXTL3	HP:0001830	Postaxial foot polydactyly
2137	EXTL3	HP:0001888	Lymphopenia
2137	EXTL3	HP:0001880	Eosinophilia
2138	EYA1	HP:0008609	Morphological abnormality of the middle ear
2138	EYA1	HP:0008586	Hypoplasia of the cochlea
2138	EYA1	HP:0008572	External ear malformation
2138	EYA1	HP:0008551	Microtia
2138	EYA1	HP:0008554	Cochlear malformation
2138	EYA1	HP:0001276	Hypertonia
2138	EYA1	HP:0001256	Intellectual disability, mild
2138	EYA1	HP:0001249	Intellectual disability
2138	EYA1	HP:0001263	Global developmental delay
2138	EYA1	HP:0002566	Intestinal malrotation
2138	EYA1	HP:0008678	Renal hypoplasia/aplasia
2138	EYA1	HP:0003828	Variable expressivity
2138	EYA1	HP:0003829	Typified by incomplete penetrance
2138	EYA1	HP:0000083	Renal insufficiency
2138	EYA1	HP:0000076	Vesicoureteral reflux
2138	EYA1	HP:0000074	Ureteropelvic junction obstruction
2138	EYA1	HP:0001374	Congenital hip dislocation
2138	EYA1	HP:0001347	Hyperreflexia
2138	EYA1	HP:0007477	Abnormal dermatoglyphics
2138	EYA1	HP:0000003	Multicystic kidney dysplasia
2138	EYA1	HP:0000006	Autosomal dominant inheritance
2138	EYA1	HP:0000193	Bifid uvula
2138	EYA1	HP:0000175	Cleft palate
2138	EYA1	HP:0007678	Lacrimal duct stenosis
2138	EYA1	HP:0000122	Unilateral renal agenesis
2138	EYA1	HP:0000113	Polycystic kidney dysplasia
2138	EYA1	HP:0000126	Hydronephrosis
2138	EYA1	HP:0000110	Renal dysplasia
2138	EYA1	HP:0002750	Delayed skeletal maturation
2138	EYA1	HP:0002060	Abnormal cerebral morphology
2138	EYA1	HP:0004742	Abnormal renal collecting system morphology
2138	EYA1	HP:0002167	Abnormality of speech or vocalization
2138	EYA1	HP:0004712	Renal malrotation
2138	EYA1	HP:0009738	Abnormal antihelix morphology
2138	EYA1	HP:0010628	Facial palsy
2138	EYA1	HP:0003691	Scapular winging
2138	EYA1	HP:0200021	Down-sloping shoulders
2138	EYA1	HP:0009795	Branchial fistula
2138	EYA1	HP:0009797	Cholesteatoma
2138	EYA1	HP:0009796	Branchial cyst
2138	EYA1	HP:0009798	Euthyroid goiter
2138	EYA1	HP:0011388	Enlarged cochlear aqueduct
2138	EYA1	HP:0000632	Lacrimation abnormality
2138	EYA1	HP:0000614	Abnormal nasolacrimal system morphology
2138	EYA1	HP:0011387	Enlarged vestibular aqueduct
2138	EYA1	HP:0011342	Mild global developmental delay
2138	EYA1	HP:0000691	Microdontia
2138	EYA1	HP:0004322	Short stature
2138	EYA1	HP:0011481	Abnormal lacrimal duct morphology
2138	EYA1	HP:0000799	Renal steatosis
2138	EYA1	HP:0004452	Abnormality of the middle ear ossicles
2138	EYA1	HP:0004467	Preauricular pit
2138	EYA1	HP:0004458	Dilatated internal auditory canal
2138	EYA1	HP:0000889	Abnormal clavicle morphology
2138	EYA1	HP:0100267	Lip pit
2138	EYA1	HP:0100274	Gustatory lacrimation
2138	EYA1	HP:0000278	Retrognathia
2138	EYA1	HP:0000293	Full cheeks
2138	EYA1	HP:0000275	Narrow face
2138	EYA1	HP:0000276	Long face
2138	EYA1	HP:0000218	High palate
2138	EYA1	HP:0011094	Increased overbite
2138	EYA1	HP:0000384	Preauricular skin tag
2138	EYA1	HP:0000378	Cupped ear
2138	EYA1	HP:0000365	Hearing impairment
2138	EYA1	HP:0000359	Abnormality of the inner ear
2138	EYA1	HP:0000356	Abnormality of the outer ear
2138	EYA1	HP:0000376	Incomplete partition of the cochlea type II
2138	EYA1	HP:0000369	Low-set ears
2138	EYA1	HP:0000347	Micrognathia
2138	EYA1	HP:0000324	Facial asymmetry
2138	EYA1	HP:0007925	Lacrimal duct aplasia
2138	EYA1	HP:0000407	Sensorineural hearing impairment
2138	EYA1	HP:0000405	Conductive hearing impairment
2138	EYA1	HP:0000400	Macrotia
2138	EYA1	HP:0000402	Stenosis of the external auditory canal
2138	EYA1	HP:0005280	Depressed nasal bridge
2138	EYA1	HP:0000463	Anteverted nares
2138	EYA1	HP:0000460	Narrow nose
2138	EYA1	HP:0000472	Long neck
2138	EYA1	HP:0000411	Protruding ear
2138	EYA1	HP:0000410	Mixed hearing impairment
2138	EYA1	HP:0000413	Atresia of the external auditory canal
2146	EZH2	HP:0001176	Large hands
2146	EZH2	HP:0001290	Generalized hypotonia
2146	EZH2	HP:0001276	Hypertonia
2146	EZH2	HP:0001256	Intellectual disability, mild
2146	EZH2	HP:0001250	Seizure
2146	EZH2	HP:0001252	Hypotonia
2146	EZH2	HP:0001249	Intellectual disability
2146	EZH2	HP:0001260	Dysarthria
2146	EZH2	HP:0002591	Polyphagia
2146	EZH2	HP:0001263	Global developmental delay
2146	EZH2	HP:0001257	Spasticity
2146	EZH2	HP:0001231	Abnormal fingernail morphology
2146	EZH2	HP:0006101	Finger syndactyly
2146	EZH2	HP:0008736	Hypoplasia of penis
2146	EZH2	HP:0001212	Prominent fingertip pads
2146	EZH2	HP:0000098	Tall stature
2146	EZH2	HP:0001377	Limited elbow extension
2146	EZH2	HP:0001387	Joint stiffness
2146	EZH2	HP:0000023	Inguinal hernia
2146	EZH2	HP:0001350	Slurred speech
2146	EZH2	HP:0000034	Hydrocele testis
2146	EZH2	HP:0000028	Cryptorchidism
2146	EZH2	HP:0008872	Feeding difficulties in infancy
2146	EZH2	HP:0003911	Flared humeral metaphysis
2146	EZH2	HP:0001331	Absent septum pellucidum
2146	EZH2	HP:0002673	Coxa valga
2146	EZH2	HP:0000006	Autosomal dominant inheritance
2146	EZH2	HP:0002650	Scoliosis
2146	EZH2	HP:0001321	Cerebellar hypoplasia
2146	EZH2	HP:0004689	Short fourth metatarsal
2146	EZH2	HP:0002002	Deep philtrum
2146	EZH2	HP:0002069	Bilateral tonic-clonic seizure
2146	EZH2	HP:0009466	Radial deviation of finger
2146	EZH2	HP:0009473	Joint contracture of the hand
2146	EZH2	HP:0002121	Generalized non-motor (absence) seizure
2146	EZH2	HP:0002119	Ventriculomegaly
2146	EZH2	HP:0002188	Delayed CNS myelination
2146	EZH2	HP:0002172	Postural instability
2146	EZH2	HP:0100490	Camptodactyly of finger
2146	EZH2	HP:0002213	Fine hair
2146	EZH2	HP:0007010	Poor fine motor coordination
2146	EZH2	HP:0200000	Dysharmonic bone age
2146	EZH2	HP:0010751	Dimple chin
2146	EZH2	HP:0011304	Broad thumb
2146	EZH2	HP:0006956	Lateral ventricle dilatation
2146	EZH2	HP:0005616	Accelerated skeletal maturation
2146	EZH2	HP:0030680	Abnormality of cardiovascular system morphology
2146	EZH2	HP:0003066	Limited knee extension
2146	EZH2	HP:0005692	Joint hyperflexibility
2146	EZH2	HP:0000750	Delayed speech and language development
2146	EZH2	HP:0011461	Fetal onset
2146	EZH2	HP:0000773	Short ribs
2146	EZH2	HP:0003186	Inverted nipples
2146	EZH2	HP:0000995	Melanocytic nevus
2146	EZH2	HP:0010300	Abnormally low-pitched voice
2146	EZH2	HP:0000973	Cutis laxa
2146	EZH2	HP:0000954	Single transverse palmar crease
2146	EZH2	HP:0000944	Abnormal metaphysis morphology
2146	EZH2	HP:0008070	Sparse hair
2146	EZH2	HP:0000286	Epicanthus
2146	EZH2	HP:0000278	Retrognathia
2146	EZH2	HP:0000256	Macrocephaly
2146	EZH2	HP:0030084	Clinodactyly
2146	EZH2	HP:0002808	Kyphosis
2146	EZH2	HP:0006387	Wide distal femoral metaphysis
2146	EZH2	HP:0001582	Redundant skin
2146	EZH2	HP:0001548	Overgrowth
2146	EZH2	HP:0001540	Diastasis recti
2146	EZH2	HP:0001537	Umbilical hernia
2146	EZH2	HP:0002866	Hypoplastic iliac wing
2146	EZH2	HP:0002834	Flared femoral metaphysis
2146	EZH2	HP:0012385	Camptodactyly
2146	EZH2	HP:0001609	Hoarse voice
2146	EZH2	HP:0001615	Hoarse cry
2146	EZH2	HP:0000368	Low-set, posteriorly rotated ears
2146	EZH2	HP:0000343	Long philtrum
2146	EZH2	HP:0000337	Broad forehead
2146	EZH2	HP:0000347	Micrognathia
2146	EZH2	HP:0000316	Hypertelorism
2146	EZH2	HP:0001643	Patent ductus arteriosus
2146	EZH2	HP:0000311	Round face
2146	EZH2	HP:0000303	Mandibular prognathia
2146	EZH2	HP:0000400	Macrotia
2146	EZH2	HP:0005280	Depressed nasal bridge
2146	EZH2	HP:0000486	Strabismus
2146	EZH2	HP:0000494	Downslanted palpebral fissures
2146	EZH2	HP:0001769	Broad foot
2146	EZH2	HP:0001762	Talipes equinovarus
2146	EZH2	HP:0001761	Pes cavus
2146	EZH2	HP:0005469	Flat occiput
2146	EZH2	HP:0001848	Calcaneovalgus deformity
2146	EZH2	HP:0001845	Overlapping toe
2146	EZH2	HP:0001840	Metatarsus adductus
2146	EZH2	HP:0001852	Sandal gap
2146	EZH2	HP:0001800	Hypoplastic toenails
2146	EZH2	HP:0001816	Thin nail
2146	EZH2	HP:0001814	Deep-set nails
2146	EZH2	HP:0001863	Toe clinodactyly
2147	F2	HP:0001297	Stroke
2147	F2	HP:0003828	Variable expressivity
2147	F2	HP:0000007	Autosomal recessive inheritance
2147	F2	HP:0000006	Autosomal dominant inheritance
2147	F2	HP:0002625	Deep venous thrombosis
2147	F2	HP:0006298	Prolonged bleeding after dental extraction
2147	F2	HP:0000132	Menorrhagia
2147	F2	HP:0001426	Multifactorial inheritance
2147	F2	HP:0008151	Prolonged prothrombin time
2147	F2	HP:0002170	Intracranial hemorrhage
2147	F2	HP:0011884	Abnormal umbilical stump bleeding
2147	F2	HP:0011890	Prolonged bleeding following procedure
2147	F2	HP:0011891	Post-partum hemorrhage
2147	F2	HP:0003577	Congenital onset
2147	F2	HP:0002239	Gastrointestinal hemorrhage
2147	F2	HP:0003581	Adult onset
2147	F2	HP:0002204	Pulmonary embolism
2147	F2	HP:0003645	Prolonged partial thromboplastin time
2147	F2	HP:0200067	Recurrent spontaneous abortion
2147	F2	HP:0004936	Venous thrombosis
2147	F2	HP:0001907	Thromboembolism
2147	F2	HP:0001903	Anemia
2147	F2	HP:0003010	Prolonged bleeding time
2147	F2	HP:0011463	Childhood onset
2147	F2	HP:0011462	Young adult onset
2147	F2	HP:0004420	Arterial thrombosis
2147	F2	HP:0004419	Recurrent thrombophlebitis
2147	F2	HP:0040250	Reduced prothrombin antigen
2147	F2	HP:0000978	Bruising susceptibility
2147	F2	HP:0012233	Intramuscular hematoma
2147	F2	HP:0000225	Gingival bleeding
2147	F2	HP:0031364	Ecchymosis
2147	F2	HP:0005261	Joint hemorrhage
2147	F2	HP:0002907	Microscopic hematuria
2147	F2	HP:0030138	Excessive bleeding from superficial cuts
2147	F2	HP:0030137	Prolonged bleeding following circumcision
2147	F2	HP:0030140	Oral cavity bleeding
2147	F2	HP:0005305	Cerebral venous thrombosis
2147	F2	HP:0000421	Epistaxis
2147	F2	HP:0001892	Abnormal bleeding
2147	F2	HP:0012541	Cephalohematoma
2153	F5	HP:0001297	Stroke
2153	F5	HP:0002586	Peritonitis
2153	F5	HP:0002573	Hematochezia
2153	F5	HP:0007420	Spontaneous hematomas
2153	F5	HP:0001394	Cirrhosis
2153	F5	HP:0000007	Autosomal recessive inheritance
2153	F5	HP:0000006	Autosomal dominant inheritance
2153	F5	HP:0002639	Budd-Chiari syndrome
2153	F5	HP:0002625	Deep venous thrombosis
2153	F5	HP:0012175	Resistance to activated protein C
2153	F5	HP:0006298	Prolonged bleeding after dental extraction
2153	F5	HP:0000132	Menorrhagia
2153	F5	HP:0001426	Multifactorial inheritance
2153	F5	HP:0001409	Portal hypertension
2153	F5	HP:0001402	Hepatocellular carcinoma
2153	F5	HP:0002024	Malabsorption
2153	F5	HP:0002027	Abdominal pain
2153	F5	HP:0002040	Esophageal varix
2153	F5	HP:0008151	Prolonged prothrombin time
2153	F5	HP:0002105	Hemoptysis
2153	F5	HP:0002170	Intracranial hemorrhage
2153	F5	HP:0011890	Prolonged bleeding following procedure
2153	F5	HP:0011891	Post-partum hemorrhage
2153	F5	HP:0002240	Hepatomegaly
2153	F5	HP:0002239	Gastrointestinal hemorrhage
2153	F5	HP:0003581	Adult onset
2153	F5	HP:0100724	Hypercoagulability
2153	F5	HP:0004846	Prolonged bleeding after surgery
2153	F5	HP:0003645	Prolonged partial thromboplastin time
2153	F5	HP:0100602	Preeclampsia
2153	F5	HP:0100608	Metrorrhagia
2153	F5	HP:0200067	Recurrent spontaneous abortion
2153	F5	HP:0001082	Cholecystitis
2153	F5	HP:0005542	Prolonged whole-blood clotting time
2153	F5	HP:0001945	Fever
2153	F5	HP:0001934	Persistent bleeding after trauma
2153	F5	HP:0003010	Prolonged bleeding time
2153	F5	HP:0011462	Young adult onset
2153	F5	HP:0000790	Hematuria
2153	F5	HP:0003225	Reduced coagulation factor V activity
2153	F5	HP:0000978	Bruising susceptibility
2153	F5	HP:0000952	Jaundice
2153	F5	HP:0000225	Gingival bleeding
2153	F5	HP:0001541	Ascites
2153	F5	HP:0005261	Joint hemorrhage
2153	F5	HP:0005244	Gastrointestinal infarctions
2153	F5	HP:0005214	Intestinal obstruction
2153	F5	HP:0006554	Acute hepatic failure
2153	F5	HP:0002910	Elevated hepatic transaminase
2153	F5	HP:0030137	Prolonged bleeding following circumcision
2153	F5	HP:0030140	Oral cavity bleeding
2153	F5	HP:0001744	Splenomegaly
2153	F5	HP:0000421	Epistaxis
2153	F5	HP:0001824	Weight loss
2153	F5	HP:0001892	Abnormal bleeding
2155	F7	HP:0010881	Abnormality of the umbilical cord
2155	F7	HP:0000007	Autosomal recessive inheritance
2155	F7	HP:0000138	Ovarian cyst
2155	F7	HP:0006298	Prolonged bleeding after dental extraction
2155	F7	HP:0000132	Menorrhagia
2155	F7	HP:0008169	Reduced factor VII activity
2155	F7	HP:0008151	Prolonged prothrombin time
2155	F7	HP:0002170	Intracranial hemorrhage
2155	F7	HP:0011891	Post-partum hemorrhage
2155	F7	HP:0002239	Gastrointestinal hemorrhage
2155	F7	HP:0004846	Prolonged bleeding after surgery
2155	F7	HP:0011463	Childhood onset
2155	F7	HP:0000978	Bruising susceptibility
2155	F7	HP:0012233	Intramuscular hematoma
2155	F7	HP:0000225	Gingival bleeding
2155	F7	HP:0005261	Joint hemorrhage
2155	F7	HP:0000421	Epistaxis
2155	F7	HP:0001892	Abnormal bleeding
2157	F8	HP:0001250	Seizure
2157	F8	HP:0007420	Spontaneous hematomas
2157	F8	HP:0001376	Limitation of joint mobility
2157	F8	HP:0001386	Joint swelling
2157	F8	HP:0002625	Deep venous thrombosis
2157	F8	HP:0006298	Prolonged bleeding after dental extraction
2157	F8	HP:0000132	Menorrhagia
2157	F8	HP:0002758	Osteoarthritis
2157	F8	HP:0001423	X-linked dominant inheritance
2157	F8	HP:0001419	X-linked recessive inheritance
2157	F8	HP:0030977	Increased factor VIII activity
2157	F8	HP:0002170	Intracranial hemorrhage
2157	F8	HP:0011889	Bleeding with minor or no trauma
2157	F8	HP:0011890	Prolonged bleeding following procedure
2157	F8	HP:0011891	Post-partum hemorrhage
2157	F8	HP:0002239	Gastrointestinal hemorrhage
2157	F8	HP:0003581	Adult onset
2157	F8	HP:0002204	Pulmonary embolism
2157	F8	HP:0100773	Cartilage destruction
2157	F8	HP:0100769	Synovitis
2157	F8	HP:0008330	Reduced von Willebrand factor activity
2157	F8	HP:0004846	Prolonged bleeding after surgery
2157	F8	HP:0001058	Poor wound healing
2157	F8	HP:0002315	Headache
2157	F8	HP:0003645	Prolonged partial thromboplastin time
2157	F8	HP:0001933	Subcutaneous hemorrhage
2157	F8	HP:0001934	Persistent bleeding after trauma
2157	F8	HP:0001903	Anemia
2157	F8	HP:0003040	Arthropathy
2157	F8	HP:0000790	Hematuria
2157	F8	HP:0003125	Reduced factor VIII activity
2157	F8	HP:0003121	Limb joint contracture
2157	F8	HP:0030746	Intraventricular hemorrhage
2157	F8	HP:0100310	Epidural hemorrhage
2157	F8	HP:0100309	Subdural hemorrhage
2157	F8	HP:0040242	Muscle hemorrhage
2157	F8	HP:0003273	Hip contracture
2157	F8	HP:0000979	Purpura
2157	F8	HP:0000978	Bruising susceptibility
2157	F8	HP:0000967	Petechiae
2157	F8	HP:0002829	Arthralgia
2157	F8	HP:0012233	Intramuscular hematoma
2157	F8	HP:0000225	Gingival bleeding
2157	F8	HP:0005261	Joint hemorrhage
2157	F8	HP:0005187	Progressive joint destruction
2157	F8	HP:0030137	Prolonged bleeding following circumcision
2157	F8	HP:0030140	Oral cavity bleeding
2157	F8	HP:0000421	Epistaxis
2157	F8	HP:0012587	Macroscopic hematuria
2157	F8	HP:0001892	Abnormal bleeding
2157	F8	HP:0012541	Cephalohematoma
2158	F9	HP:0002625	Deep venous thrombosis
2158	F9	HP:0002758	Osteoarthritis
2158	F9	HP:0001419	X-linked recessive inheritance
2158	F9	HP:0008151	Prolonged prothrombin time
2158	F9	HP:0011858	Reduced factor IX activity
2158	F9	HP:0002239	Gastrointestinal hemorrhage
2158	F9	HP:0100724	Hypercoagulability
2158	F9	HP:0003645	Prolonged partial thromboplastin time
2158	F9	HP:0005542	Prolonged whole-blood clotting time
2158	F9	HP:0001934	Persistent bleeding after trauma
2158	F9	HP:0033061	Increased factor IX activity
2158	F9	HP:0005261	Joint hemorrhage
2158	F9	HP:0001892	Abnormal bleeding
2159	F10	HP:0007420	Spontaneous hematomas
2159	F10	HP:0025328	Antepartum hemorrhage
2159	F10	HP:0000007	Autosomal recessive inheritance
2159	F10	HP:0006298	Prolonged bleeding after dental extraction
2159	F10	HP:0000132	Menorrhagia
2159	F10	HP:0008151	Prolonged prothrombin time
2159	F10	HP:0002138	Subarachnoid hemorrhage
2159	F10	HP:0002170	Intracranial hemorrhage
2159	F10	HP:0011884	Abnormal umbilical stump bleeding
2159	F10	HP:0011891	Post-partum hemorrhage
2159	F10	HP:0011854	Hemoperitoneum
2159	F10	HP:0002239	Gastrointestinal hemorrhage
2159	F10	HP:0008321	Reduced factor X activity
2159	F10	HP:0004846	Prolonged bleeding after surgery
2159	F10	HP:0003645	Prolonged partial thromboplastin time
2159	F10	HP:0000790	Hematuria
2159	F10	HP:0000978	Bruising susceptibility
2159	F10	HP:0012233	Intramuscular hematoma
2159	F10	HP:0000225	Gingival bleeding
2159	F10	HP:0005261	Joint hemorrhage
2159	F10	HP:0030140	Oral cavity bleeding
2159	F10	HP:0000421	Epistaxis
2160	F11	HP:0010989	Abnormality of the intrinsic pathway
2160	F11	HP:0000007	Autosomal recessive inheritance
2160	F11	HP:0000006	Autosomal dominant inheritance
2160	F11	HP:0006298	Prolonged bleeding after dental extraction
2160	F11	HP:0000132	Menorrhagia
2160	F11	HP:0002239	Gastrointestinal hemorrhage
2160	F11	HP:0003645	Prolonged partial thromboplastin time
2160	F11	HP:0001929	Reduced factor XI activity
2160	F11	HP:0005261	Joint hemorrhage
2160	F11	HP:0000421	Epistaxis
2160	F11	HP:0001892	Abnormal bleeding
2161	F12	HP:0002574	Episodic abdominal pain
2161	F12	HP:0000007	Autosomal recessive inheritance
2161	F12	HP:0000006	Autosomal dominant inheritance
2161	F12	HP:0002013	Vomiting
2161	F12	HP:0011855	Pharyngeal edema
2161	F12	HP:0004841	Reduced factor XII activity
2161	F12	HP:0001026	Penetrating foot ulcers
2161	F12	HP:0003645	Prolonged partial thromboplastin time
2161	F12	HP:0100665	Angioedema
2161	F12	HP:0200067	Recurrent spontaneous abortion
2161	F12	HP:0005542	Prolonged whole-blood clotting time
2161	F12	HP:0001977	Abnormal thrombosis
2161	F12	HP:0001907	Thromboembolism
2161	F12	HP:0012636	Retinal vein occlusion
2161	F12	HP:0000282	Facial edema
2161	F12	HP:0012271	Episodic upper airway obstruction
2161	F12	HP:0005225	Intestinal edema
2161	F12	HP:0007985	Retinal arteriolar occlusion
2161	F12	HP:0001892	Abnormal bleeding
2162	F13A1	HP:0007420	Spontaneous hematomas
2162	F13A1	HP:0001399	Hepatic failure
2162	F13A1	HP:0001342	Cerebral hemorrhage
2162	F13A1	HP:0000007	Autosomal recessive inheritance
2162	F13A1	HP:0000006	Autosomal dominant inheritance
2162	F13A1	HP:0002625	Deep venous thrombosis
2162	F13A1	HP:0006298	Prolonged bleeding after dental extraction
2162	F13A1	HP:0000132	Menorrhagia
2162	F13A1	HP:0002037	Inflammation of the large intestine
2162	F13A1	HP:0002170	Intracranial hemorrhage
2162	F13A1	HP:0011889	Bleeding with minor or no trauma
2162	F13A1	HP:0011884	Abnormal umbilical stump bleeding
2162	F13A1	HP:0011891	Post-partum hemorrhage
2162	F13A1	HP:0003577	Congenital onset
2162	F13A1	HP:0002204	Pulmonary embolism
2162	F13A1	HP:0008357	Reduced factor XIII activity
2162	F13A1	HP:0004846	Prolonged bleeding after surgery
2162	F13A1	HP:0001058	Poor wound healing
2162	F13A1	HP:0200067	Recurrent spontaneous abortion
2162	F13A1	HP:0003623	Neonatal onset
2162	F13A1	HP:0001933	Subcutaneous hemorrhage
2162	F13A1	HP:0001934	Persistent bleeding after trauma
2162	F13A1	HP:0001907	Thromboembolism
2162	F13A1	HP:0030657	Umbilical cord hematoma
2162	F13A1	HP:0011463	Childhood onset
2162	F13A1	HP:0004419	Recurrent thrombophlebitis
2162	F13A1	HP:0040233	Factor XIII subunit A deficiency
2162	F13A1	HP:0040232	Delayed onset bleeding
2162	F13A1	HP:0000978	Bruising susceptibility
2162	F13A1	HP:0012233	Intramuscular hematoma
2162	F13A1	HP:0000225	Gingival bleeding
2162	F13A1	HP:0031364	Ecchymosis
2162	F13A1	HP:0005261	Joint hemorrhage
2162	F13A1	HP:0012324	Myeloid leukemia
2162	F13A1	HP:0030137	Prolonged bleeding following circumcision
2162	F13A1	HP:0030140	Oral cavity bleeding
2162	F13A1	HP:0005305	Cerebral venous thrombosis
2162	F13A1	HP:0000421	Epistaxis
2162	F13A1	HP:0001892	Abnormal bleeding
2165	F13B	HP:0007420	Spontaneous hematomas
2165	F13B	HP:0001399	Hepatic failure
2165	F13B	HP:0001342	Cerebral hemorrhage
2165	F13B	HP:0000007	Autosomal recessive inheritance
2165	F13B	HP:0006298	Prolonged bleeding after dental extraction
2165	F13B	HP:0000132	Menorrhagia
2165	F13B	HP:0002037	Inflammation of the large intestine
2165	F13B	HP:0011889	Bleeding with minor or no trauma
2165	F13B	HP:0011884	Abnormal umbilical stump bleeding
2165	F13B	HP:0011891	Post-partum hemorrhage
2165	F13B	HP:0003577	Congenital onset
2165	F13B	HP:0008357	Reduced factor XIII activity
2165	F13B	HP:0004846	Prolonged bleeding after surgery
2165	F13B	HP:0001058	Poor wound healing
2165	F13B	HP:0200067	Recurrent spontaneous abortion
2165	F13B	HP:0001933	Subcutaneous hemorrhage
2165	F13B	HP:0001934	Persistent bleeding after trauma
2165	F13B	HP:0030657	Umbilical cord hematoma
2165	F13B	HP:0040234	Factor XIII subunit B deficiency
2165	F13B	HP:0040232	Delayed onset bleeding
2165	F13B	HP:0000978	Bruising susceptibility
2165	F13B	HP:0012233	Intramuscular hematoma
2165	F13B	HP:0000225	Gingival bleeding
2165	F13B	HP:0031364	Ecchymosis
2165	F13B	HP:0005261	Joint hemorrhage
2165	F13B	HP:0012324	Myeloid leukemia
2165	F13B	HP:0030137	Prolonged bleeding following circumcision
2165	F13B	HP:0030140	Oral cavity bleeding
2165	F13B	HP:0000421	Epistaxis
2165	F13B	HP:0001892	Abnormal bleeding
2175	FANCA	HP:0001172	Abnormal thumb morphology
2175	FANCA	HP:0009943	Complete duplication of thumb phalanx
2175	FANCA	HP:0001199	Triphalangeal thumb
2175	FANCA	HP:0008572	External ear malformation
2175	FANCA	HP:0002414	Spina bifida
2175	FANCA	HP:0001249	Intellectual disability
2175	FANCA	HP:0001263	Global developmental delay
2175	FANCA	HP:0002575	Tracheoesophageal fistula
2175	FANCA	HP:0006101	Finger syndactyly
2175	FANCA	HP:0007400	Irregular hyperpigmentation
2175	FANCA	HP:0100867	Duodenal stenosis
2175	FANCA	HP:0008678	Renal hypoplasia/aplasia
2175	FANCA	HP:0000083	Renal insufficiency
2175	FANCA	HP:0000086	Ectopic kidney
2175	FANCA	HP:0000085	Horseshoe kidney
2175	FANCA	HP:0000081	Duplicated collecting system
2175	FANCA	HP:0001392	Abnormality of the liver
2175	FANCA	HP:0000079	Abnormality of the urinary system
2175	FANCA	HP:0000072	Hydroureter
2175	FANCA	HP:0012041	Decreased fertility in males
2175	FANCA	HP:0000047	Hypospadias
2175	FANCA	HP:0001347	Hyperreflexia
2175	FANCA	HP:0000035	Abnormal testis morphology
2175	FANCA	HP:0000028	Cryptorchidism
2175	FANCA	HP:0000027	Azoospermia
2175	FANCA	HP:0007565	Multiple cafe-au-lait spots
2175	FANCA	HP:0002664	Neoplasm
2175	FANCA	HP:0000010	Recurrent urinary tract infections
2175	FANCA	HP:0000007	Autosomal recessive inheritance
2175	FANCA	HP:0002650	Scoliosis
2175	FANCA	HP:0003974	Absent radius
2175	FANCA	HP:0000175	Cleft palate
2175	FANCA	HP:0000135	Hypogonadism
2175	FANCA	HP:0006265	Aplasia/Hypoplasia of fingers
2175	FANCA	HP:0000130	Abnormality of the uterus
2175	FANCA	HP:0000104	Renal agenesis
2175	FANCA	HP:0002023	Anal atresia
2175	FANCA	HP:0002007	Frontal bossing
2175	FANCA	HP:0100542	Abnormal localization of kidney
2175	FANCA	HP:0100587	Abnormal preputium morphology
2175	FANCA	HP:0010469	Absent testis
2175	FANCA	HP:0002119	Ventriculomegaly
2175	FANCA	HP:0002245	Meckel diverticulum
2175	FANCA	HP:0002251	Aganglionic megacolon
2175	FANCA	HP:0100760	Clubbing of toes
2175	FANCA	HP:0001053	Hypopigmented skin patches
2175	FANCA	HP:0001017	Anemic pallor
2175	FANCA	HP:0001000	Abnormality of skin pigmentation
2175	FANCA	HP:0009777	Absent thumb
2175	FANCA	HP:0009778	Short thumb
2175	FANCA	HP:0004209	Clinodactyly of the 5th finger
2175	FANCA	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2175	FANCA	HP:0006824	Cranial nerve paralysis
2175	FANCA	HP:0000639	Nystagmus
2175	FANCA	HP:0001909	Leukemia
2175	FANCA	HP:0001903	Anemia
2175	FANCA	HP:0012639	Abnormal nervous system morphology
2175	FANCA	HP:0004322	Short stature
2175	FANCA	HP:0030680	Abnormality of cardiovascular system morphology
2175	FANCA	HP:0003022	Hypoplasia of the ulna
2175	FANCA	HP:0004349	Reduced bone mineral density
2175	FANCA	HP:0012745	Short palpebral fissure
2175	FANCA	HP:0100026	Arteriovenous malformation
2175	FANCA	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2175	FANCA	HP:0000815	Hypergonadotropic hypogonadism
2175	FANCA	HP:0000813	Bicornuate uterus
2175	FANCA	HP:0010293	Aplasia/Hypoplasia of the uvula
2175	FANCA	HP:0040071	Abnormal morphology of ulna
2175	FANCA	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
2175	FANCA	HP:0003214	Prolonged G2 phase of cell cycle
2175	FANCA	HP:0003220	Abnormality of chromosome stability
2175	FANCA	HP:0003221	Chromosomal breakage induced by crosslinking agents
2175	FANCA	HP:0003251	Male infertility
2175	FANCA	HP:0000978	Bruising susceptibility
2175	FANCA	HP:0000957	Cafe-au-lait spot
2175	FANCA	HP:0008053	Aplasia/Hypoplasia of the iris
2175	FANCA	HP:0000286	Epicanthus
2175	FANCA	HP:0000268	Dolichocephaly
2175	FANCA	HP:0002817	Abnormality of the upper limb
2175	FANCA	HP:0002827	Hip dislocation
2175	FANCA	HP:0002823	Abnormality of femur morphology
2175	FANCA	HP:0000238	Hydrocephalus
2175	FANCA	HP:0000252	Microcephaly
2175	FANCA	HP:0012210	Abnormal renal morphology
2175	FANCA	HP:0000218	High palate
2175	FANCA	HP:0001562	Oligohydramnios
2175	FANCA	HP:0001537	Umbilical hernia
2175	FANCA	HP:0002863	Myelodysplasia
2175	FANCA	HP:0001518	Small for gestational age
2175	FANCA	HP:0001511	Intrauterine growth retardation
2175	FANCA	HP:0001510	Growth delay
2175	FANCA	HP:0006501	Aplasia/Hypoplasia of the radius
2175	FANCA	HP:0007874	Almond-shaped palpebral fissure
2175	FANCA	HP:0000365	Hearing impairment
2175	FANCA	HP:0000364	Hearing abnormality
2175	FANCA	HP:0001671	Abnormal cardiac septum morphology
2175	FANCA	HP:0000340	Sloping forehead
2175	FANCA	HP:0001679	Abnormal aortic morphology
2175	FANCA	HP:0000347	Micrognathia
2175	FANCA	HP:0000316	Hypertelorism
2175	FANCA	HP:0001646	Abnormal aortic valve morphology
2175	FANCA	HP:0001643	Patent ductus arteriosus
2175	FANCA	HP:0000324	Facial asymmetry
2175	FANCA	HP:0001627	Abnormal heart morphology
2175	FANCA	HP:0001639	Hypertrophic cardiomyopathy
2175	FANCA	HP:0001636	Tetralogy of Fallot
2175	FANCA	HP:0001631	Atrial septal defect
2175	FANCA	HP:0005344	Abnormal carotid artery morphology
2175	FANCA	HP:0000483	Astigmatism
2175	FANCA	HP:0000486	Strabismus
2175	FANCA	HP:0000478	Abnormality of the eye
2175	FANCA	HP:0000492	Abnormal eyelid morphology
2175	FANCA	HP:0001770	Toe syndactyly
2175	FANCA	HP:0001763	Pes planus
2175	FANCA	HP:0000453	Choanal atresia
2175	FANCA	HP:0001760	Abnormal foot morphology
2175	FANCA	HP:0000518	Cataract
2175	FANCA	HP:0000520	Proptosis
2175	FANCA	HP:0001824	Weight loss
2175	FANCA	HP:0000508	Ptosis
2175	FANCA	HP:0000505	Visual impairment
2175	FANCA	HP:0000504	Abnormality of vision
2175	FANCA	HP:0000582	Upslanted palpebral fissure
2175	FANCA	HP:0000568	Microphthalmia
2175	FANCA	HP:0001896	Reticulocytopenia
2175	FANCA	HP:0001871	Abnormality of blood and blood-forming tissues
2175	FANCA	HP:0001882	Leukopenia
2175	FANCA	HP:0001873	Thrombocytopenia
2175	FANCA	HP:0001876	Pancytopenia
2175	FANCA	HP:0001875	Neutropenia
2176	FANCC	HP:0001172	Abnormal thumb morphology
2176	FANCC	HP:0009943	Complete duplication of thumb phalanx
2176	FANCC	HP:0001199	Triphalangeal thumb
2176	FANCC	HP:0008572	External ear malformation
2176	FANCC	HP:0002414	Spina bifida
2176	FANCC	HP:0001249	Intellectual disability
2176	FANCC	HP:0001263	Global developmental delay
2176	FANCC	HP:0002575	Tracheoesophageal fistula
2176	FANCC	HP:0006101	Finger syndactyly
2176	FANCC	HP:0007400	Irregular hyperpigmentation
2176	FANCC	HP:0100867	Duodenal stenosis
2176	FANCC	HP:0008678	Renal hypoplasia/aplasia
2176	FANCC	HP:0000083	Renal insufficiency
2176	FANCC	HP:0000086	Ectopic kidney
2176	FANCC	HP:0000085	Horseshoe kidney
2176	FANCC	HP:0000081	Duplicated collecting system
2176	FANCC	HP:0001392	Abnormality of the liver
2176	FANCC	HP:0000079	Abnormality of the urinary system
2176	FANCC	HP:0000072	Hydroureter
2176	FANCC	HP:0012041	Decreased fertility in males
2176	FANCC	HP:0001371	Flexion contracture
2176	FANCC	HP:0000047	Hypospadias
2176	FANCC	HP:0001347	Hyperreflexia
2176	FANCC	HP:0000035	Abnormal testis morphology
2176	FANCC	HP:0000028	Cryptorchidism
2176	FANCC	HP:0000027	Azoospermia
2176	FANCC	HP:0007565	Multiple cafe-au-lait spots
2176	FANCC	HP:0002664	Neoplasm
2176	FANCC	HP:0000010	Recurrent urinary tract infections
2176	FANCC	HP:0000007	Autosomal recessive inheritance
2176	FANCC	HP:0002650	Scoliosis
2176	FANCC	HP:0003974	Absent radius
2176	FANCC	HP:0000175	Cleft palate
2176	FANCC	HP:0000135	Hypogonadism
2176	FANCC	HP:0006265	Aplasia/Hypoplasia of fingers
2176	FANCC	HP:0000130	Abnormality of the uterus
2176	FANCC	HP:0000104	Renal agenesis
2176	FANCC	HP:0002023	Anal atresia
2176	FANCC	HP:0002007	Frontal bossing
2176	FANCC	HP:0100542	Abnormal localization of kidney
2176	FANCC	HP:0100587	Abnormal preputium morphology
2176	FANCC	HP:0010469	Absent testis
2176	FANCC	HP:0002119	Ventriculomegaly
2176	FANCC	HP:0002245	Meckel diverticulum
2176	FANCC	HP:0002251	Aganglionic megacolon
2176	FANCC	HP:0100760	Clubbing of toes
2176	FANCC	HP:0011940	Anterior wedging of T12
2176	FANCC	HP:0020073	Hypopigmented macule
2176	FANCC	HP:0001053	Hypopigmented skin patches
2176	FANCC	HP:0001017	Anemic pallor
2176	FANCC	HP:0001000	Abnormality of skin pigmentation
2176	FANCC	HP:0009777	Absent thumb
2176	FANCC	HP:0009778	Short thumb
2176	FANCC	HP:0005528	Bone marrow hypocellularity
2176	FANCC	HP:0004209	Clinodactyly of the 5th finger
2176	FANCC	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2176	FANCC	HP:0006824	Cranial nerve paralysis
2176	FANCC	HP:0000639	Nystagmus
2176	FANCC	HP:0001909	Leukemia
2176	FANCC	HP:0001903	Anemia
2176	FANCC	HP:0012639	Abnormal nervous system morphology
2176	FANCC	HP:0004322	Short stature
2176	FANCC	HP:0003022	Hypoplasia of the ulna
2176	FANCC	HP:0004349	Reduced bone mineral density
2176	FANCC	HP:0012745	Short palpebral fissure
2176	FANCC	HP:0100026	Arteriovenous malformation
2176	FANCC	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2176	FANCC	HP:0000815	Hypergonadotropic hypogonadism
2176	FANCC	HP:0000813	Bicornuate uterus
2176	FANCC	HP:0010293	Aplasia/Hypoplasia of the uvula
2176	FANCC	HP:0040071	Abnormal morphology of ulna
2176	FANCC	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
2176	FANCC	HP:0003214	Prolonged G2 phase of cell cycle
2176	FANCC	HP:0003220	Abnormality of chromosome stability
2176	FANCC	HP:0003221	Chromosomal breakage induced by crosslinking agents
2176	FANCC	HP:0000978	Bruising susceptibility
2176	FANCC	HP:0000957	Cafe-au-lait spot
2176	FANCC	HP:0000953	Hyperpigmentation of the skin
2176	FANCC	HP:0008053	Aplasia/Hypoplasia of the iris
2176	FANCC	HP:0000286	Epicanthus
2176	FANCC	HP:0000268	Dolichocephaly
2176	FANCC	HP:0002817	Abnormality of the upper limb
2176	FANCC	HP:0002827	Hip dislocation
2176	FANCC	HP:0002823	Abnormality of femur morphology
2176	FANCC	HP:0000238	Hydrocephalus
2176	FANCC	HP:0000252	Microcephaly
2176	FANCC	HP:0012210	Abnormal renal morphology
2176	FANCC	HP:0000218	High palate
2176	FANCC	HP:0001562	Oligohydramnios
2176	FANCC	HP:0001537	Umbilical hernia
2176	FANCC	HP:0002863	Myelodysplasia
2176	FANCC	HP:0001518	Small for gestational age
2176	FANCC	HP:0001511	Intrauterine growth retardation
2176	FANCC	HP:0001510	Growth delay
2176	FANCC	HP:0006501	Aplasia/Hypoplasia of the radius
2176	FANCC	HP:0007874	Almond-shaped palpebral fissure
2176	FANCC	HP:0000365	Hearing impairment
2176	FANCC	HP:0000364	Hearing abnormality
2176	FANCC	HP:0001671	Abnormal cardiac septum morphology
2176	FANCC	HP:0000340	Sloping forehead
2176	FANCC	HP:0001679	Abnormal aortic morphology
2176	FANCC	HP:0000347	Micrognathia
2176	FANCC	HP:0000316	Hypertelorism
2176	FANCC	HP:0001646	Abnormal aortic valve morphology
2176	FANCC	HP:0001643	Patent ductus arteriosus
2176	FANCC	HP:0000325	Triangular face
2176	FANCC	HP:0000324	Facial asymmetry
2176	FANCC	HP:0001629	Ventricular septal defect
2176	FANCC	HP:0001639	Hypertrophic cardiomyopathy
2176	FANCC	HP:0001636	Tetralogy of Fallot
2176	FANCC	HP:0001631	Atrial septal defect
2176	FANCC	HP:0005344	Abnormal carotid artery morphology
2176	FANCC	HP:0000483	Astigmatism
2176	FANCC	HP:0000486	Strabismus
2176	FANCC	HP:0000478	Abnormality of the eye
2176	FANCC	HP:0000492	Abnormal eyelid morphology
2176	FANCC	HP:0001770	Toe syndactyly
2176	FANCC	HP:0001763	Pes planus
2176	FANCC	HP:0000453	Choanal atresia
2176	FANCC	HP:0001760	Abnormal foot morphology
2176	FANCC	HP:0000518	Cataract
2176	FANCC	HP:0000520	Proptosis
2176	FANCC	HP:0001824	Weight loss
2176	FANCC	HP:0000508	Ptosis
2176	FANCC	HP:0000505	Visual impairment
2176	FANCC	HP:0000504	Abnormality of vision
2176	FANCC	HP:0000582	Upslanted palpebral fissure
2176	FANCC	HP:0000568	Microphthalmia
2176	FANCC	HP:0001896	Reticulocytopenia
2176	FANCC	HP:0001871	Abnormality of blood and blood-forming tissues
2176	FANCC	HP:0001882	Leukopenia
2176	FANCC	HP:0001873	Thrombocytopenia
2176	FANCC	HP:0001876	Pancytopenia
2176	FANCC	HP:0001875	Neutropenia
2177	FANCD2	HP:0001177	Preaxial hand polydactyly
2177	FANCD2	HP:0001172	Abnormal thumb morphology
2177	FANCD2	HP:0009944	Partial duplication of thumb phalanx
2177	FANCD2	HP:0009943	Complete duplication of thumb phalanx
2177	FANCD2	HP:0001199	Triphalangeal thumb
2177	FANCD2	HP:0008572	External ear malformation
2177	FANCD2	HP:0002414	Spina bifida
2177	FANCD2	HP:0001274	Agenesis of corpus callosum
2177	FANCD2	HP:0001249	Intellectual disability
2177	FANCD2	HP:0001263	Global developmental delay
2177	FANCD2	HP:0002575	Tracheoesophageal fistula
2177	FANCD2	HP:0006101	Finger syndactyly
2177	FANCD2	HP:0007400	Irregular hyperpigmentation
2177	FANCD2	HP:0100867	Duodenal stenosis
2177	FANCD2	HP:0008678	Renal hypoplasia/aplasia
2177	FANCD2	HP:0000083	Renal insufficiency
2177	FANCD2	HP:0000086	Ectopic kidney
2177	FANCD2	HP:0000085	Horseshoe kidney
2177	FANCD2	HP:0000081	Duplicated collecting system
2177	FANCD2	HP:0001392	Abnormality of the liver
2177	FANCD2	HP:0000079	Abnormality of the urinary system
2177	FANCD2	HP:0000072	Hydroureter
2177	FANCD2	HP:0000075	Renal duplication
2177	FANCD2	HP:0012041	Decreased fertility in males
2177	FANCD2	HP:0000054	Micropenis
2177	FANCD2	HP:0000047	Hypospadias
2177	FANCD2	HP:0001347	Hyperreflexia
2177	FANCD2	HP:0000035	Abnormal testis morphology
2177	FANCD2	HP:0000028	Cryptorchidism
2177	FANCD2	HP:0000027	Azoospermia
2177	FANCD2	HP:0007565	Multiple cafe-au-lait spots
2177	FANCD2	HP:0002664	Neoplasm
2177	FANCD2	HP:0000010	Recurrent urinary tract infections
2177	FANCD2	HP:0000007	Autosomal recessive inheritance
2177	FANCD2	HP:0002650	Scoliosis
2177	FANCD2	HP:0003974	Absent radius
2177	FANCD2	HP:0000175	Cleft palate
2177	FANCD2	HP:0000135	Hypogonadism
2177	FANCD2	HP:0006265	Aplasia/Hypoplasia of fingers
2177	FANCD2	HP:0000130	Abnormality of the uterus
2177	FANCD2	HP:0000125	Pelvic kidney
2177	FANCD2	HP:0000104	Renal agenesis
2177	FANCD2	HP:0002023	Anal atresia
2177	FANCD2	HP:0002032	Esophageal atresia
2177	FANCD2	HP:0002007	Frontal bossing
2177	FANCD2	HP:0100542	Abnormal localization of kidney
2177	FANCD2	HP:0002079	Hypoplasia of the corpus callosum
2177	FANCD2	HP:0100587	Abnormal preputium morphology
2177	FANCD2	HP:0010469	Absent testis
2177	FANCD2	HP:0002119	Ventriculomegaly
2177	FANCD2	HP:0002245	Meckel diverticulum
2177	FANCD2	HP:0002251	Aganglionic megacolon
2177	FANCD2	HP:0100760	Clubbing of toes
2177	FANCD2	HP:0007018	Attention deficit hyperactivity disorder
2177	FANCD2	HP:0001053	Hypopigmented skin patches
2177	FANCD2	HP:0001017	Anemic pallor
2177	FANCD2	HP:0001000	Abnormality of skin pigmentation
2177	FANCD2	HP:0009777	Absent thumb
2177	FANCD2	HP:0009778	Short thumb
2177	FANCD2	HP:0005528	Bone marrow hypocellularity
2177	FANCD2	HP:0004209	Clinodactyly of the 5th finger
2177	FANCD2	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2177	FANCD2	HP:0006824	Cranial nerve paralysis
2177	FANCD2	HP:0000639	Nystagmus
2177	FANCD2	HP:0000601	Hypotelorism
2177	FANCD2	HP:0001909	Leukemia
2177	FANCD2	HP:0001903	Anemia
2177	FANCD2	HP:0010035	Aplasia of the 1st metacarpal
2177	FANCD2	HP:0012639	Abnormal nervous system morphology
2177	FANCD2	HP:0004322	Short stature
2177	FANCD2	HP:0003022	Hypoplasia of the ulna
2177	FANCD2	HP:0004349	Reduced bone mineral density
2177	FANCD2	HP:0012745	Short palpebral fissure
2177	FANCD2	HP:0100026	Arteriovenous malformation
2177	FANCD2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2177	FANCD2	HP:0000815	Hypergonadotropic hypogonadism
2177	FANCD2	HP:0000813	Bicornuate uterus
2177	FANCD2	HP:0010293	Aplasia/Hypoplasia of the uvula
2177	FANCD2	HP:0040071	Abnormal morphology of ulna
2177	FANCD2	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
2177	FANCD2	HP:0003214	Prolonged G2 phase of cell cycle
2177	FANCD2	HP:0003220	Abnormality of chromosome stability
2177	FANCD2	HP:0003221	Chromosomal breakage induced by crosslinking agents
2177	FANCD2	HP:0000978	Bruising susceptibility
2177	FANCD2	HP:0000957	Cafe-au-lait spot
2177	FANCD2	HP:0008053	Aplasia/Hypoplasia of the iris
2177	FANCD2	HP:0000286	Epicanthus
2177	FANCD2	HP:0000268	Dolichocephaly
2177	FANCD2	HP:0002817	Abnormality of the upper limb
2177	FANCD2	HP:0002827	Hip dislocation
2177	FANCD2	HP:0002823	Abnormality of femur morphology
2177	FANCD2	HP:0000238	Hydrocephalus
2177	FANCD2	HP:0000252	Microcephaly
2177	FANCD2	HP:0012210	Abnormal renal morphology
2177	FANCD2	HP:0000218	High palate
2177	FANCD2	HP:0001562	Oligohydramnios
2177	FANCD2	HP:0001537	Umbilical hernia
2177	FANCD2	HP:0002863	Myelodysplasia
2177	FANCD2	HP:0001518	Small for gestational age
2177	FANCD2	HP:0001511	Intrauterine growth retardation
2177	FANCD2	HP:0001510	Growth delay
2177	FANCD2	HP:0006501	Aplasia/Hypoplasia of the radius
2177	FANCD2	HP:0007874	Almond-shaped palpebral fissure
2177	FANCD2	HP:0000365	Hearing impairment
2177	FANCD2	HP:0000364	Hearing abnormality
2177	FANCD2	HP:0000369	Low-set ears
2177	FANCD2	HP:0001671	Abnormal cardiac septum morphology
2177	FANCD2	HP:0000340	Sloping forehead
2177	FANCD2	HP:0001679	Abnormal aortic morphology
2177	FANCD2	HP:0000347	Micrognathia
2177	FANCD2	HP:0000316	Hypertelorism
2177	FANCD2	HP:0001646	Abnormal aortic valve morphology
2177	FANCD2	HP:0001643	Patent ductus arteriosus
2177	FANCD2	HP:0000324	Facial asymmetry
2177	FANCD2	HP:0001627	Abnormal heart morphology
2177	FANCD2	HP:0001639	Hypertrophic cardiomyopathy
2177	FANCD2	HP:0001636	Tetralogy of Fallot
2177	FANCD2	HP:0001631	Atrial septal defect
2177	FANCD2	HP:0005344	Abnormal carotid artery morphology
2177	FANCD2	HP:0001734	Annular pancreas
2177	FANCD2	HP:0000483	Astigmatism
2177	FANCD2	HP:0000486	Strabismus
2177	FANCD2	HP:0000478	Abnormality of the eye
2177	FANCD2	HP:0000492	Abnormal eyelid morphology
2177	FANCD2	HP:0001770	Toe syndactyly
2177	FANCD2	HP:0001763	Pes planus
2177	FANCD2	HP:0000453	Choanal atresia
2177	FANCD2	HP:0001760	Abnormal foot morphology
2177	FANCD2	HP:0000518	Cataract
2177	FANCD2	HP:0000520	Proptosis
2177	FANCD2	HP:0001824	Weight loss
2177	FANCD2	HP:0000508	Ptosis
2177	FANCD2	HP:0000505	Visual impairment
2177	FANCD2	HP:0000504	Abnormality of vision
2177	FANCD2	HP:0000582	Upslanted palpebral fissure
2177	FANCD2	HP:0000581	Blepharophimosis
2177	FANCD2	HP:0000568	Microphthalmia
2177	FANCD2	HP:0001896	Reticulocytopenia
2177	FANCD2	HP:0001871	Abnormality of blood and blood-forming tissues
2177	FANCD2	HP:0001882	Leukopenia
2177	FANCD2	HP:0001873	Thrombocytopenia
2177	FANCD2	HP:0001876	Pancytopenia
2177	FANCD2	HP:0001875	Neutropenia
2178	FANCE	HP:0001172	Abnormal thumb morphology
2178	FANCE	HP:0009943	Complete duplication of thumb phalanx
2178	FANCE	HP:0001199	Triphalangeal thumb
2178	FANCE	HP:0008572	External ear malformation
2178	FANCE	HP:0002414	Spina bifida
2178	FANCE	HP:0001249	Intellectual disability
2178	FANCE	HP:0001263	Global developmental delay
2178	FANCE	HP:0002575	Tracheoesophageal fistula
2178	FANCE	HP:0006101	Finger syndactyly
2178	FANCE	HP:0007400	Irregular hyperpigmentation
2178	FANCE	HP:0100867	Duodenal stenosis
2178	FANCE	HP:0008678	Renal hypoplasia/aplasia
2178	FANCE	HP:0000083	Renal insufficiency
2178	FANCE	HP:0000086	Ectopic kidney
2178	FANCE	HP:0000085	Horseshoe kidney
2178	FANCE	HP:0000081	Duplicated collecting system
2178	FANCE	HP:0001392	Abnormality of the liver
2178	FANCE	HP:0000079	Abnormality of the urinary system
2178	FANCE	HP:0000072	Hydroureter
2178	FANCE	HP:0012041	Decreased fertility in males
2178	FANCE	HP:0000047	Hypospadias
2178	FANCE	HP:0001347	Hyperreflexia
2178	FANCE	HP:0000035	Abnormal testis morphology
2178	FANCE	HP:0000028	Cryptorchidism
2178	FANCE	HP:0000027	Azoospermia
2178	FANCE	HP:0007565	Multiple cafe-au-lait spots
2178	FANCE	HP:0002664	Neoplasm
2178	FANCE	HP:0000010	Recurrent urinary tract infections
2178	FANCE	HP:0000007	Autosomal recessive inheritance
2178	FANCE	HP:0002650	Scoliosis
2178	FANCE	HP:0003974	Absent radius
2178	FANCE	HP:0000175	Cleft palate
2178	FANCE	HP:0000135	Hypogonadism
2178	FANCE	HP:0006265	Aplasia/Hypoplasia of fingers
2178	FANCE	HP:0000130	Abnormality of the uterus
2178	FANCE	HP:0000104	Renal agenesis
2178	FANCE	HP:0002023	Anal atresia
2178	FANCE	HP:0002007	Frontal bossing
2178	FANCE	HP:0100542	Abnormal localization of kidney
2178	FANCE	HP:0100587	Abnormal preputium morphology
2178	FANCE	HP:0010469	Absent testis
2178	FANCE	HP:0002119	Ventriculomegaly
2178	FANCE	HP:0002245	Meckel diverticulum
2178	FANCE	HP:0002251	Aganglionic megacolon
2178	FANCE	HP:0100760	Clubbing of toes
2178	FANCE	HP:0001053	Hypopigmented skin patches
2178	FANCE	HP:0001017	Anemic pallor
2178	FANCE	HP:0001000	Abnormality of skin pigmentation
2178	FANCE	HP:0009777	Absent thumb
2178	FANCE	HP:0009778	Short thumb
2178	FANCE	HP:0004209	Clinodactyly of the 5th finger
2178	FANCE	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2178	FANCE	HP:0006824	Cranial nerve paralysis
2178	FANCE	HP:0000639	Nystagmus
2178	FANCE	HP:0001909	Leukemia
2178	FANCE	HP:0001903	Anemia
2178	FANCE	HP:0012639	Abnormal nervous system morphology
2178	FANCE	HP:0004322	Short stature
2178	FANCE	HP:0003022	Hypoplasia of the ulna
2178	FANCE	HP:0004349	Reduced bone mineral density
2178	FANCE	HP:0012745	Short palpebral fissure
2178	FANCE	HP:0100026	Arteriovenous malformation
2178	FANCE	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2178	FANCE	HP:0000815	Hypergonadotropic hypogonadism
2178	FANCE	HP:0000813	Bicornuate uterus
2178	FANCE	HP:0010293	Aplasia/Hypoplasia of the uvula
2178	FANCE	HP:0040071	Abnormal morphology of ulna
2178	FANCE	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
2178	FANCE	HP:0003214	Prolonged G2 phase of cell cycle
2178	FANCE	HP:0003220	Abnormality of chromosome stability
2178	FANCE	HP:0003221	Chromosomal breakage induced by crosslinking agents
2178	FANCE	HP:0000978	Bruising susceptibility
2178	FANCE	HP:0000957	Cafe-au-lait spot
2178	FANCE	HP:0000953	Hyperpigmentation of the skin
2178	FANCE	HP:0008053	Aplasia/Hypoplasia of the iris
2178	FANCE	HP:0000286	Epicanthus
2178	FANCE	HP:0000268	Dolichocephaly
2178	FANCE	HP:0002817	Abnormality of the upper limb
2178	FANCE	HP:0002827	Hip dislocation
2178	FANCE	HP:0002823	Abnormality of femur morphology
2178	FANCE	HP:0000238	Hydrocephalus
2178	FANCE	HP:0000252	Microcephaly
2178	FANCE	HP:0012210	Abnormal renal morphology
2178	FANCE	HP:0000218	High palate
2178	FANCE	HP:0001562	Oligohydramnios
2178	FANCE	HP:0001537	Umbilical hernia
2178	FANCE	HP:0002863	Myelodysplasia
2178	FANCE	HP:0001518	Small for gestational age
2178	FANCE	HP:0001511	Intrauterine growth retardation
2178	FANCE	HP:0001510	Growth delay
2178	FANCE	HP:0006501	Aplasia/Hypoplasia of the radius
2178	FANCE	HP:0007874	Almond-shaped palpebral fissure
2178	FANCE	HP:0000365	Hearing impairment
2178	FANCE	HP:0000364	Hearing abnormality
2178	FANCE	HP:0001671	Abnormal cardiac septum morphology
2178	FANCE	HP:0000340	Sloping forehead
2178	FANCE	HP:0001679	Abnormal aortic morphology
2178	FANCE	HP:0000347	Micrognathia
2178	FANCE	HP:0000316	Hypertelorism
2178	FANCE	HP:0001646	Abnormal aortic valve morphology
2178	FANCE	HP:0001643	Patent ductus arteriosus
2178	FANCE	HP:0000324	Facial asymmetry
2178	FANCE	HP:0001627	Abnormal heart morphology
2178	FANCE	HP:0001639	Hypertrophic cardiomyopathy
2178	FANCE	HP:0001636	Tetralogy of Fallot
2178	FANCE	HP:0001631	Atrial septal defect
2178	FANCE	HP:0005344	Abnormal carotid artery morphology
2178	FANCE	HP:0000483	Astigmatism
2178	FANCE	HP:0000486	Strabismus
2178	FANCE	HP:0000478	Abnormality of the eye
2178	FANCE	HP:0000492	Abnormal eyelid morphology
2178	FANCE	HP:0001770	Toe syndactyly
2178	FANCE	HP:0001763	Pes planus
2178	FANCE	HP:0000453	Choanal atresia
2178	FANCE	HP:0001760	Abnormal foot morphology
2178	FANCE	HP:0000518	Cataract
2178	FANCE	HP:0000520	Proptosis
2178	FANCE	HP:0001824	Weight loss
2178	FANCE	HP:0000508	Ptosis
2178	FANCE	HP:0000505	Visual impairment
2178	FANCE	HP:0000504	Abnormality of vision
2178	FANCE	HP:0000582	Upslanted palpebral fissure
2178	FANCE	HP:0000568	Microphthalmia
2178	FANCE	HP:0001896	Reticulocytopenia
2178	FANCE	HP:0001871	Abnormality of blood and blood-forming tissues
2178	FANCE	HP:0001882	Leukopenia
2178	FANCE	HP:0001873	Thrombocytopenia
2178	FANCE	HP:0001876	Pancytopenia
2178	FANCE	HP:0001875	Neutropenia
2182	ACSL4	HP:0001182	Tapered finger
2182	ACSL4	HP:0010864	Intellectual disability, severe
2182	ACSL4	HP:0100820	Glomerulopathy
2182	ACSL4	HP:0001252	Hypotonia
2182	ACSL4	HP:0001249	Intellectual disability
2182	ACSL4	HP:0000083	Renal insufficiency
2182	ACSL4	HP:0000093	Proteinuria
2182	ACSL4	HP:0001347	Hyperreflexia
2182	ACSL4	HP:0001423	X-linked dominant inheritance
2182	ACSL4	HP:0000739	Anxiety
2182	ACSL4	HP:0000750	Delayed speech and language development
2182	ACSL4	HP:0000729	Autistic behavior
2182	ACSL4	HP:0011463	Childhood onset
2182	ACSL4	HP:0004445	Elliptocytosis
2182	ACSL4	HP:0000944	Abnormal metaphysis morphology
2182	ACSL4	HP:0001595	Abnormal hair morphology
2182	ACSL4	HP:0000272	Malar flattening
2182	ACSL4	HP:0000252	Microcephaly
2182	ACSL4	HP:0000233	Thin vermilion border
2182	ACSL4	HP:0011069	Supernumerary tooth
2182	ACSL4	HP:0002907	Microscopic hematuria
2182	ACSL4	HP:0000365	Hearing impairment
2182	ACSL4	HP:0001646	Abnormal aortic valve morphology
2182	ACSL4	HP:0001643	Patent ductus arteriosus
2182	ACSL4	HP:0005280	Depressed nasal bridge
2182	ACSL4	HP:0000486	Strabismus
2182	ACSL4	HP:0012471	Thick vermilion border
2182	ACSL4	HP:0000494	Downslanted palpebral fissures
2182	ACSL4	HP:0000463	Anteverted nares
2182	ACSL4	HP:0000545	Myopia
2184	FAH	HP:0003768	Periodic paralysis
2184	FAH	HP:0002590	Paralytic ileus
2184	FAH	HP:0002572	Episodic vomiting
2184	FAH	HP:0000083	Renal insufficiency
2184	FAH	HP:0000096	Glomerular sclerosis
2184	FAH	HP:0001399	Hepatic failure
2184	FAH	HP:0001394	Cirrhosis
2184	FAH	HP:0000007	Autosomal recessive inheritance
2184	FAH	HP:0006254	Elevated circulating alpha-fetoprotein concentration
2184	FAH	HP:0000121	Nephrocalcinosis
2184	FAH	HP:0000105	Enlarged kidney
2184	FAH	HP:0001402	Hepatocellular carcinoma
2184	FAH	HP:0008151	Prolonged prothrombin time
2184	FAH	HP:0002240	Hepatomegaly
2184	FAH	HP:0002239	Gastrointestinal hemorrhage
2184	FAH	HP:0002249	Melena
2184	FAH	HP:0003645	Prolonged partial thromboplastin time
2184	FAH	HP:0004912	Hypophosphatemic rickets
2184	FAH	HP:0001943	Hypoglycemia
2184	FAH	HP:0001945	Fever
2184	FAH	HP:0001942	Metabolic acidosis
2184	FAH	HP:0001903	Anemia
2184	FAH	HP:0001994	Renal Fanconi syndrome
2184	FAH	HP:0006949	Episodic peripheral neuropathy
2184	FAH	HP:0003163	Elevated urinary delta-aminolevulinic acid
2184	FAH	HP:0003235	Hypermethioninemia
2184	FAH	HP:0003231	Hypertyrosinemia
2184	FAH	HP:0004510	Pancreatic islet-cell hyperplasia
2184	FAH	HP:0006463	Rickets of the lower limbs
2184	FAH	HP:0001541	Ascites
2184	FAH	HP:0001508	Failure to thrive
2184	FAH	HP:0001510	Growth delay
2184	FAH	HP:0006554	Acute hepatic failure
2184	FAH	HP:0002910	Elevated hepatic transaminase
2184	FAH	HP:0002909	Generalized aminoaciduria
2184	FAH	HP:0001639	Hypertrophic cardiomyopathy
2184	FAH	HP:0001744	Splenomegaly
2186	BPTF	HP:0008607	Progressive conductive hearing impairment
2186	BPTF	HP:0008551	Microtia
2186	BPTF	HP:0001290	Generalized hypotonia
2186	BPTF	HP:0001270	Motor delay
2186	BPTF	HP:0001256	Intellectual disability, mild
2186	BPTF	HP:0001250	Seizure
2186	BPTF	HP:0001249	Intellectual disability
2186	BPTF	HP:0001263	Global developmental delay
2186	BPTF	HP:0001238	Slender finger
2186	BPTF	HP:0002500	Abnormal cerebral white matter morphology
2186	BPTF	HP:0000076	Vesicoureteral reflux
2186	BPTF	HP:0000006	Autosomal dominant inheritance
2186	BPTF	HP:0002650	Scoliosis
2186	BPTF	HP:0000160	Narrow mouth
2186	BPTF	HP:0008935	Generalized neonatal hypotonia
2186	BPTF	HP:0011800	Midface retrusion
2186	BPTF	HP:0033142	Long nasal bridge
2186	BPTF	HP:0011968	Feeding difficulties
2186	BPTF	HP:0020045	Esodeviation
2186	BPTF	HP:0009824	Upper limb undergrowth
2186	BPTF	HP:0200055	Small hand
2186	BPTF	HP:0200053	Hemihypotrophy of lower limb
2186	BPTF	HP:0010794	Impaired visuospatial constructive cognition
2186	BPTF	HP:0004209	Clinodactyly of the 5th finger
2186	BPTF	HP:0001956	Truncal obesity
2186	BPTF	HP:0010055	Broad hallux
2186	BPTF	HP:0012683	Pineal cyst
2186	BPTF	HP:0000692	Tooth malposition
2186	BPTF	HP:0011304	Broad thumb
2186	BPTF	HP:0000664	Synophrys
2186	BPTF	HP:0004322	Short stature
2186	BPTF	HP:0003028	Abnormality of the ankle
2186	BPTF	HP:0003019	Abnormality of the wrist
2186	BPTF	HP:0012745	Short palpebral fissure
2186	BPTF	HP:0000738	Hallucinations
2186	BPTF	HP:0000739	Anxiety
2186	BPTF	HP:0000750	Delayed speech and language development
2186	BPTF	HP:0000718	Aggressive behavior
2186	BPTF	HP:0000712	Emotional lability
2186	BPTF	HP:0000708	Atypical behavior
2186	BPTF	HP:0000869	Secondary amenorrhea
2186	BPTF	HP:0000824	Decreased response to growth hormone stimulation test
2186	BPTF	HP:0011648	Patent ductus arteriosus after birth at term
2186	BPTF	HP:0000286	Epicanthus
2186	BPTF	HP:0000252	Microcephaly
2186	BPTF	HP:0000219	Thin upper lip vermilion
2186	BPTF	HP:0001531	Failure to thrive in infancy
2186	BPTF	HP:0000362	Otosclerosis
2186	BPTF	HP:0000347	Micrognathia
2186	BPTF	HP:0000316	Hypertelorism
2186	BPTF	HP:0001642	Pulmonic stenosis
2186	BPTF	HP:0001657	Prolonged QT interval
2186	BPTF	HP:0000322	Short philtrum
2186	BPTF	HP:0000325	Triangular face
2186	BPTF	HP:0002967	Cubitus valgus
2186	BPTF	HP:0000403	Recurrent otitis media
2186	BPTF	HP:0000494	Downslanted palpebral fissures
2186	BPTF	HP:0000490	Deeply set eye
2186	BPTF	HP:0000455	Broad nasal tip
2186	BPTF	HP:0000475	Broad neck
2186	BPTF	HP:0000470	Short neck
2186	BPTF	HP:0001763	Pes planus
2186	BPTF	HP:0000448	Prominent nose
2186	BPTF	HP:0000431	Wide nasal bridge
2186	BPTF	HP:0001845	Overlapping toe
2186	BPTF	HP:0001852	Sandal gap
2186	BPTF	HP:0000508	Ptosis
2186	BPTF	HP:0000582	Upslanted palpebral fissure
2186	BPTF	HP:0011229	Broad eyebrow
2186	BPTF	HP:0000574	Thick eyebrow
2186	BPTF	HP:0000545	Myopia
2187	FANCB	HP:0001172	Abnormal thumb morphology
2187	FANCB	HP:0001161	Hand polydactyly
2187	FANCB	HP:0010963	Absence of stomach bubble on fetal sonography
2187	FANCB	HP:0001199	Triphalangeal thumb
2187	FANCB	HP:0001195	Single umbilical artery
2187	FANCB	HP:0008572	External ear malformation
2187	FANCB	HP:0009892	Anotia
2187	FANCB	HP:0002414	Spina bifida
2187	FANCB	HP:0002410	Aqueductal stenosis
2187	FANCB	HP:0001249	Intellectual disability
2187	FANCB	HP:0001263	Global developmental delay
2187	FANCB	HP:0002575	Tracheoesophageal fistula
2187	FANCB	HP:0006101	Finger syndactyly
2187	FANCB	HP:0008750	Laryngeal atresia
2187	FANCB	HP:0007400	Irregular hyperpigmentation
2187	FANCB	HP:0100867	Duodenal stenosis
2187	FANCB	HP:0008678	Renal hypoplasia/aplasia
2187	FANCB	HP:0003811	Neonatal death
2187	FANCB	HP:0000083	Renal insufficiency
2187	FANCB	HP:0000068	Urethral atresia
2187	FANCB	HP:0001392	Abnormality of the liver
2187	FANCB	HP:0000079	Abnormality of the urinary system
2187	FANCB	HP:0000072	Hydroureter
2187	FANCB	HP:0012041	Decreased fertility in males
2187	FANCB	HP:0000054	Micropenis
2187	FANCB	HP:0000047	Hypospadias
2187	FANCB	HP:0000023	Inguinal hernia
2187	FANCB	HP:0001347	Hyperreflexia
2187	FANCB	HP:0000035	Abnormal testis morphology
2187	FANCB	HP:0000028	Cryptorchidism
2187	FANCB	HP:0000027	Azoospermia
2187	FANCB	HP:0007565	Multiple cafe-au-lait spots
2187	FANCB	HP:0002664	Neoplasm
2187	FANCB	HP:0000010	Recurrent urinary tract infections
2187	FANCB	HP:0002650	Scoliosis
2187	FANCB	HP:0001321	Cerebellar hypoplasia
2187	FANCB	HP:0003974	Absent radius
2187	FANCB	HP:0000175	Cleft palate
2187	FANCB	HP:0000135	Hypogonadism
2187	FANCB	HP:0006265	Aplasia/Hypoplasia of fingers
2187	FANCB	HP:0000130	Abnormality of the uterus
2187	FANCB	HP:0000126	Hydronephrosis
2187	FANCB	HP:0000105	Enlarged kidney
2187	FANCB	HP:0000104	Renal agenesis
2187	FANCB	HP:0001419	X-linked recessive inheritance
2187	FANCB	HP:0002023	Anal atresia
2187	FANCB	HP:0002032	Esophageal atresia
2187	FANCB	HP:0002007	Frontal bossing
2187	FANCB	HP:0003312	Abnormal form of the vertebral bodies
2187	FANCB	HP:0100541	Femoral hernia
2187	FANCB	HP:0100542	Abnormal localization of kidney
2187	FANCB	HP:0002089	Pulmonary hypoplasia
2187	FANCB	HP:0002079	Hypoplasia of the corpus callosum
2187	FANCB	HP:0100587	Abnormal preputium morphology
2187	FANCB	HP:0010469	Absent testis
2187	FANCB	HP:0002139	Arrhinencephaly
2187	FANCB	HP:0003468	Abnormal vertebral morphology
2187	FANCB	HP:0002119	Ventriculomegaly
2187	FANCB	HP:0002101	Abnormal lung lobation
2187	FANCB	HP:0009623	Proximal placement of thumb
2187	FANCB	HP:0002188	Delayed CNS myelination
2187	FANCB	HP:0003593	Infantile onset
2187	FANCB	HP:0002245	Meckel diverticulum
2187	FANCB	HP:0002251	Aganglionic megacolon
2187	FANCB	HP:0002247	Duodenal atresia
2187	FANCB	HP:0100760	Clubbing of toes
2187	FANCB	HP:0001053	Hypopigmented skin patches
2187	FANCB	HP:0004977	Bilateral radial aplasia
2187	FANCB	HP:0001000	Abnormality of skin pigmentation
2187	FANCB	HP:0009777	Absent thumb
2187	FANCB	HP:0004209	Clinodactyly of the 5th finger
2187	FANCB	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2187	FANCB	HP:0031853	Isomerism
2187	FANCB	HP:0006824	Cranial nerve paralysis
2187	FANCB	HP:0000639	Nystagmus
2187	FANCB	HP:0001903	Anemia
2187	FANCB	HP:0001915	Aplastic anemia
2187	FANCB	HP:0012639	Abnormal nervous system morphology
2187	FANCB	HP:0004322	Short stature
2187	FANCB	HP:0030680	Abnormality of cardiovascular system morphology
2187	FANCB	HP:0034197	Third trimester onset
2187	FANCB	HP:0003022	Hypoplasia of the ulna
2187	FANCB	HP:0004349	Reduced bone mineral density
2187	FANCB	HP:0012745	Short palpebral fissure
2187	FANCB	HP:0100026	Arteriovenous malformation
2187	FANCB	HP:0011463	Childhood onset
2187	FANCB	HP:0000925	Abnormality of the vertebral column
2187	FANCB	HP:0005792	Short humerus
2187	FANCB	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2187	FANCB	HP:0000815	Hypergonadotropic hypogonadism
2187	FANCB	HP:0000813	Bicornuate uterus
2187	FANCB	HP:0010293	Aplasia/Hypoplasia of the uvula
2187	FANCB	HP:0040071	Abnormal morphology of ulna
2187	FANCB	HP:0003220	Abnormality of chromosome stability
2187	FANCB	HP:0010305	Absence of the sacrum
2187	FANCB	HP:0000960	Sacral dimple
2187	FANCB	HP:0008053	Aplasia/Hypoplasia of the iris
2187	FANCB	HP:0000286	Epicanthus
2187	FANCB	HP:0000278	Retrognathia
2187	FANCB	HP:0000268	Dolichocephaly
2187	FANCB	HP:0007766	Optic disc hypoplasia
2187	FANCB	HP:0002817	Abnormality of the upper limb
2187	FANCB	HP:0002827	Hip dislocation
2187	FANCB	HP:0002823	Abnormality of femur morphology
2187	FANCB	HP:0000238	Hydrocephalus
2187	FANCB	HP:0000252	Microcephaly
2187	FANCB	HP:0012210	Abnormal renal morphology
2187	FANCB	HP:0000218	High palate
2187	FANCB	HP:0001562	Oligohydramnios
2187	FANCB	HP:0001561	Polyhydramnios
2187	FANCB	HP:0001522	Death in infancy
2187	FANCB	HP:0001537	Umbilical hernia
2187	FANCB	HP:0002863	Myelodysplasia
2187	FANCB	HP:0001511	Intrauterine growth retardation
2187	FANCB	HP:0001510	Growth delay
2187	FANCB	HP:0006501	Aplasia/Hypoplasia of the radius
2187	FANCB	HP:0000396	Overfolded helix
2187	FANCB	HP:0011027	Abnormal fallopian tube morphology
2187	FANCB	HP:0007874	Almond-shaped palpebral fissure
2187	FANCB	HP:0002937	Hemivertebrae
2187	FANCB	HP:0000365	Hearing impairment
2187	FANCB	HP:0000364	Hearing abnormality
2187	FANCB	HP:0000356	Abnormality of the outer ear
2187	FANCB	HP:0000369	Low-set ears
2187	FANCB	HP:0001671	Abnormal cardiac septum morphology
2187	FANCB	HP:0000340	Sloping forehead
2187	FANCB	HP:0001669	Transposition of the great arteries
2187	FANCB	HP:0001680	Coarctation of aorta
2187	FANCB	HP:0001679	Abnormal aortic morphology
2187	FANCB	HP:0000347	Micrognathia
2187	FANCB	HP:0001651	Dextrocardia
2187	FANCB	HP:0000316	Hypertelorism
2187	FANCB	HP:0001646	Abnormal aortic valve morphology
2187	FANCB	HP:0001643	Patent ductus arteriosus
2187	FANCB	HP:0002984	Hypoplasia of the radius
2187	FANCB	HP:0000324	Facial asymmetry
2187	FANCB	HP:0001629	Ventricular septal defect
2187	FANCB	HP:0001639	Hypertrophic cardiomyopathy
2187	FANCB	HP:0001636	Tetralogy of Fallot
2187	FANCB	HP:0001631	Atrial septal defect
2187	FANCB	HP:0005301	Persistent left superior vena cava
2187	FANCB	HP:0006695	Atrioventricular canal defect
2187	FANCB	HP:0005344	Abnormal carotid artery morphology
2187	FANCB	HP:0000483	Astigmatism
2187	FANCB	HP:0000486	Strabismus
2187	FANCB	HP:0000482	Microcornea
2187	FANCB	HP:0000478	Abnormality of the eye
2187	FANCB	HP:0000492	Abnormal eyelid morphology
2187	FANCB	HP:0000470	Short neck
2187	FANCB	HP:0001770	Toe syndactyly
2187	FANCB	HP:0001763	Pes planus
2187	FANCB	HP:0000453	Choanal atresia
2187	FANCB	HP:0001760	Abnormal foot morphology
2187	FANCB	HP:0011267	Microtia, third degree
2187	FANCB	HP:0000518	Cataract
2187	FANCB	HP:0000528	Anophthalmia
2187	FANCB	HP:0000520	Proptosis
2187	FANCB	HP:0001824	Weight loss
2187	FANCB	HP:0000508	Ptosis
2187	FANCB	HP:0000505	Visual impairment
2187	FANCB	HP:0000504	Abnormality of vision
2187	FANCB	HP:0000582	Upslanted palpebral fissure
2187	FANCB	HP:0000587	Abnormal optic nerve morphology
2187	FANCB	HP:0000568	Microphthalmia
2187	FANCB	HP:0001871	Abnormality of blood and blood-forming tissues
2187	FANCB	HP:0001882	Leukopenia
2187	FANCB	HP:0001873	Thrombocytopenia
2188	FANCF	HP:0001172	Abnormal thumb morphology
2188	FANCF	HP:0001199	Triphalangeal thumb
2188	FANCF	HP:0001195	Single umbilical artery
2188	FANCF	HP:0008572	External ear malformation
2188	FANCF	HP:0008551	Microtia
2188	FANCF	HP:0002414	Spina bifida
2188	FANCF	HP:0001249	Intellectual disability
2188	FANCF	HP:0001263	Global developmental delay
2188	FANCF	HP:0001233	2-3 finger syndactyly
2188	FANCF	HP:0002575	Tracheoesophageal fistula
2188	FANCF	HP:0006101	Finger syndactyly
2188	FANCF	HP:0007400	Irregular hyperpigmentation
2188	FANCF	HP:0100867	Duodenal stenosis
2188	FANCF	HP:0008678	Renal hypoplasia/aplasia
2188	FANCF	HP:0000089	Renal hypoplasia
2188	FANCF	HP:0000083	Renal insufficiency
2188	FANCF	HP:0001392	Abnormality of the liver
2188	FANCF	HP:0000076	Vesicoureteral reflux
2188	FANCF	HP:0000079	Abnormality of the urinary system
2188	FANCF	HP:0000072	Hydroureter
2188	FANCF	HP:0012041	Decreased fertility in males
2188	FANCF	HP:0000047	Hypospadias
2188	FANCF	HP:0001347	Hyperreflexia
2188	FANCF	HP:0000035	Abnormal testis morphology
2188	FANCF	HP:0000028	Cryptorchidism
2188	FANCF	HP:0000027	Azoospermia
2188	FANCF	HP:0007565	Multiple cafe-au-lait spots
2188	FANCF	HP:0002664	Neoplasm
2188	FANCF	HP:0001328	Specific learning disability
2188	FANCF	HP:0000010	Recurrent urinary tract infections
2188	FANCF	HP:0000007	Autosomal recessive inheritance
2188	FANCF	HP:0002650	Scoliosis
2188	FANCF	HP:0000175	Cleft palate
2188	FANCF	HP:0000135	Hypogonadism
2188	FANCF	HP:0006265	Aplasia/Hypoplasia of fingers
2188	FANCF	HP:0000130	Abnormality of the uterus
2188	FANCF	HP:0000125	Pelvic kidney
2188	FANCF	HP:0002023	Anal atresia
2188	FANCF	HP:0002007	Frontal bossing
2188	FANCF	HP:0100542	Abnormal localization of kidney
2188	FANCF	HP:0002090	Pneumonia
2188	FANCF	HP:0100587	Abnormal preputium morphology
2188	FANCF	HP:0010469	Absent testis
2188	FANCF	HP:0002119	Ventriculomegaly
2188	FANCF	HP:0002245	Meckel diverticulum
2188	FANCF	HP:0003577	Congenital onset
2188	FANCF	HP:0002251	Aganglionic megacolon
2188	FANCF	HP:0002247	Duodenal atresia
2188	FANCF	HP:0100760	Clubbing of toes
2188	FANCF	HP:0001053	Hypopigmented skin patches
2188	FANCF	HP:0001000	Abnormality of skin pigmentation
2188	FANCF	HP:0009777	Absent thumb
2188	FANCF	HP:0009778	Short thumb
2188	FANCF	HP:0005528	Bone marrow hypocellularity
2188	FANCF	HP:0004209	Clinodactyly of the 5th finger
2188	FANCF	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2188	FANCF	HP:0006824	Cranial nerve paralysis
2188	FANCF	HP:0000639	Nystagmus
2188	FANCF	HP:0001903	Anemia
2188	FANCF	HP:0012639	Abnormal nervous system morphology
2188	FANCF	HP:0004322	Short stature
2188	FANCF	HP:0003022	Hypoplasia of the ulna
2188	FANCF	HP:0004349	Reduced bone mineral density
2188	FANCF	HP:0011419	Placental abruption
2188	FANCF	HP:0012745	Short palpebral fissure
2188	FANCF	HP:0100026	Arteriovenous malformation
2188	FANCF	HP:0000750	Delayed speech and language development
2188	FANCF	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2188	FANCF	HP:0000813	Bicornuate uterus
2188	FANCF	HP:0000824	Decreased response to growth hormone stimulation test
2188	FANCF	HP:0010293	Aplasia/Hypoplasia of the uvula
2188	FANCF	HP:0040071	Abnormal morphology of ulna
2188	FANCF	HP:0003220	Abnormality of chromosome stability
2188	FANCF	HP:0003221	Chromosomal breakage induced by crosslinking agents
2188	FANCF	HP:0000957	Cafe-au-lait spot
2188	FANCF	HP:0000953	Hyperpigmentation of the skin
2188	FANCF	HP:0000960	Sacral dimple
2188	FANCF	HP:0008053	Aplasia/Hypoplasia of the iris
2188	FANCF	HP:0000286	Epicanthus
2188	FANCF	HP:0000268	Dolichocephaly
2188	FANCF	HP:0002817	Abnormality of the upper limb
2188	FANCF	HP:0002827	Hip dislocation
2188	FANCF	HP:0002823	Abnormality of femur morphology
2188	FANCF	HP:0000238	Hydrocephalus
2188	FANCF	HP:0000252	Microcephaly
2188	FANCF	HP:0012210	Abnormal renal morphology
2188	FANCF	HP:0000218	High palate
2188	FANCF	HP:0001562	Oligohydramnios
2188	FANCF	HP:0001561	Polyhydramnios
2188	FANCF	HP:0001537	Umbilical hernia
2188	FANCF	HP:0002863	Myelodysplasia
2188	FANCF	HP:0001508	Failure to thrive
2188	FANCF	HP:0001511	Intrauterine growth retardation
2188	FANCF	HP:0001510	Growth delay
2188	FANCF	HP:0006501	Aplasia/Hypoplasia of the radius
2188	FANCF	HP:0007874	Almond-shaped palpebral fissure
2188	FANCF	HP:0000365	Hearing impairment
2188	FANCF	HP:0000364	Hearing abnormality
2188	FANCF	HP:0001671	Abnormal cardiac septum morphology
2188	FANCF	HP:0000340	Sloping forehead
2188	FANCF	HP:0001679	Abnormal aortic morphology
2188	FANCF	HP:0000347	Micrognathia
2188	FANCF	HP:0000316	Hypertelorism
2188	FANCF	HP:0001646	Abnormal aortic valve morphology
2188	FANCF	HP:0001643	Patent ductus arteriosus
2188	FANCF	HP:0002984	Hypoplasia of the radius
2188	FANCF	HP:0000324	Facial asymmetry
2188	FANCF	HP:0001639	Hypertrophic cardiomyopathy
2188	FANCF	HP:0001636	Tetralogy of Fallot
2188	FANCF	HP:0001631	Atrial septal defect
2188	FANCF	HP:0005344	Abnormal carotid artery morphology
2188	FANCF	HP:0000405	Conductive hearing impairment
2188	FANCF	HP:0000483	Astigmatism
2188	FANCF	HP:0000486	Strabismus
2188	FANCF	HP:0000478	Abnormality of the eye
2188	FANCF	HP:0000492	Abnormal eyelid morphology
2188	FANCF	HP:0001770	Toe syndactyly
2188	FANCF	HP:0030260	Microphallus
2188	FANCF	HP:0001763	Pes planus
2188	FANCF	HP:0000453	Choanal atresia
2188	FANCF	HP:0001760	Abnormal foot morphology
2188	FANCF	HP:0000518	Cataract
2188	FANCF	HP:0000520	Proptosis
2188	FANCF	HP:0001824	Weight loss
2188	FANCF	HP:0000508	Ptosis
2188	FANCF	HP:0000505	Visual impairment
2188	FANCF	HP:0000504	Abnormality of vision
2188	FANCF	HP:0000582	Upslanted palpebral fissure
2188	FANCF	HP:0000568	Microphthalmia
2188	FANCF	HP:0001871	Abnormality of blood and blood-forming tissues
2188	FANCF	HP:0001882	Leukopenia
2188	FANCF	HP:0001873	Thrombocytopenia
2189	FANCG	HP:0001172	Abnormal thumb morphology
2189	FANCG	HP:0001199	Triphalangeal thumb
2189	FANCG	HP:0008572	External ear malformation
2189	FANCG	HP:0002414	Spina bifida
2189	FANCG	HP:0001249	Intellectual disability
2189	FANCG	HP:0001263	Global developmental delay
2189	FANCG	HP:0002575	Tracheoesophageal fistula
2189	FANCG	HP:0006101	Finger syndactyly
2189	FANCG	HP:0007400	Irregular hyperpigmentation
2189	FANCG	HP:0100867	Duodenal stenosis
2189	FANCG	HP:0008678	Renal hypoplasia/aplasia
2189	FANCG	HP:0000083	Renal insufficiency
2189	FANCG	HP:0001392	Abnormality of the liver
2189	FANCG	HP:0000079	Abnormality of the urinary system
2189	FANCG	HP:0000072	Hydroureter
2189	FANCG	HP:0012041	Decreased fertility in males
2189	FANCG	HP:0000047	Hypospadias
2189	FANCG	HP:0001347	Hyperreflexia
2189	FANCG	HP:0000035	Abnormal testis morphology
2189	FANCG	HP:0000028	Cryptorchidism
2189	FANCG	HP:0000027	Azoospermia
2189	FANCG	HP:0007565	Multiple cafe-au-lait spots
2189	FANCG	HP:0002664	Neoplasm
2189	FANCG	HP:0000010	Recurrent urinary tract infections
2189	FANCG	HP:0002650	Scoliosis
2189	FANCG	HP:0000175	Cleft palate
2189	FANCG	HP:0000135	Hypogonadism
2189	FANCG	HP:0006265	Aplasia/Hypoplasia of fingers
2189	FANCG	HP:0000130	Abnormality of the uterus
2189	FANCG	HP:0002023	Anal atresia
2189	FANCG	HP:0002007	Frontal bossing
2189	FANCG	HP:0100542	Abnormal localization of kidney
2189	FANCG	HP:0100587	Abnormal preputium morphology
2189	FANCG	HP:0010469	Absent testis
2189	FANCG	HP:0002119	Ventriculomegaly
2189	FANCG	HP:0002245	Meckel diverticulum
2189	FANCG	HP:0002251	Aganglionic megacolon
2189	FANCG	HP:0100760	Clubbing of toes
2189	FANCG	HP:0001053	Hypopigmented skin patches
2189	FANCG	HP:0001000	Abnormality of skin pigmentation
2189	FANCG	HP:0004209	Clinodactyly of the 5th finger
2189	FANCG	HP:0005522	Pyridoxine-responsive sideroblastic anemia
2189	FANCG	HP:0006824	Cranial nerve paralysis
2189	FANCG	HP:0000639	Nystagmus
2189	FANCG	HP:0001909	Leukemia
2189	FANCG	HP:0001903	Anemia
2189	FANCG	HP:0012639	Abnormal nervous system morphology
2189	FANCG	HP:0004322	Short stature
2189	FANCG	HP:0003022	Hypoplasia of the ulna
2189	FANCG	HP:0004349	Reduced bone mineral density
2189	FANCG	HP:0012745	Short palpebral fissure
2189	FANCG	HP:0100026	Arteriovenous malformation
2189	FANCG	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2189	FANCG	HP:0000813	Bicornuate uterus
2189	FANCG	HP:0010293	Aplasia/Hypoplasia of the uvula
2189	FANCG	HP:0040071	Abnormal morphology of ulna
2189	FANCG	HP:0003220	Abnormality of chromosome stability
2189	FANCG	HP:0008053	Aplasia/Hypoplasia of the iris
2189	FANCG	HP:0000286	Epicanthus
2189	FANCG	HP:0000268	Dolichocephaly
2189	FANCG	HP:0002817	Abnormality of the upper limb
2189	FANCG	HP:0002827	Hip dislocation
2189	FANCG	HP:0002823	Abnormality of femur morphology
2189	FANCG	HP:0000238	Hydrocephalus
2189	FANCG	HP:0000252	Microcephaly
2189	FANCG	HP:0012210	Abnormal renal morphology
2189	FANCG	HP:0000218	High palate
2189	FANCG	HP:0001562	Oligohydramnios
2189	FANCG	HP:0001537	Umbilical hernia
2189	FANCG	HP:0002863	Myelodysplasia
2189	FANCG	HP:0001511	Intrauterine growth retardation
2189	FANCG	HP:0001510	Growth delay
2189	FANCG	HP:0006501	Aplasia/Hypoplasia of the radius
2189	FANCG	HP:0007874	Almond-shaped palpebral fissure
2189	FANCG	HP:0000365	Hearing impairment
2189	FANCG	HP:0000364	Hearing abnormality
2189	FANCG	HP:0001671	Abnormal cardiac septum morphology
2189	FANCG	HP:0000340	Sloping forehead
2189	FANCG	HP:0001679	Abnormal aortic morphology
2189	FANCG	HP:0000347	Micrognathia
2189	FANCG	HP:0000316	Hypertelorism
2189	FANCG	HP:0001646	Abnormal aortic valve morphology
2189	FANCG	HP:0001643	Patent ductus arteriosus
2189	FANCG	HP:0000324	Facial asymmetry
2189	FANCG	HP:0001639	Hypertrophic cardiomyopathy
2189	FANCG	HP:0001636	Tetralogy of Fallot
2189	FANCG	HP:0001631	Atrial septal defect
2189	FANCG	HP:0005344	Abnormal carotid artery morphology
2189	FANCG	HP:0000483	Astigmatism
2189	FANCG	HP:0000486	Strabismus
2189	FANCG	HP:0000478	Abnormality of the eye
2189	FANCG	HP:0000492	Abnormal eyelid morphology
2189	FANCG	HP:0001770	Toe syndactyly
2189	FANCG	HP:0001763	Pes planus
2189	FANCG	HP:0000453	Choanal atresia
2189	FANCG	HP:0001760	Abnormal foot morphology
2189	FANCG	HP:0000518	Cataract
2189	FANCG	HP:0000520	Proptosis
2189	FANCG	HP:0001824	Weight loss
2189	FANCG	HP:0000508	Ptosis
2189	FANCG	HP:0000505	Visual impairment
2189	FANCG	HP:0000504	Abnormality of vision
2189	FANCG	HP:0000582	Upslanted palpebral fissure
2189	FANCG	HP:0000568	Microphthalmia
2189	FANCG	HP:0001871	Abnormality of blood and blood-forming tissues
2189	FANCG	HP:0001882	Leukopenia
2189	FANCG	HP:0001873	Thrombocytopenia
2189	FANCG	HP:0001875	Neutropenia
2192	FBLN1	HP:0001159	Syndactyly
2192	FBLN1	HP:0001270	Motor delay
2192	FBLN1	HP:0001285	Spastic tetraparesis
2192	FBLN1	HP:0001260	Dysarthria
2192	FBLN1	HP:0000028	Cryptorchidism
2192	FBLN1	HP:0008780	Congenital bilateral hip dislocation
2192	FBLN1	HP:0001332	Dystonia
2192	FBLN1	HP:0000006	Autosomal dominant inheritance
2192	FBLN1	HP:0001440	Metatarsal synostosis
2192	FBLN1	HP:0003396	Syringomyelia
2192	FBLN1	HP:0010442	Polydactyly
2192	FBLN1	HP:0002120	Cerebral cortical atrophy
2192	FBLN1	HP:0002200	Pseudobulbar signs
2192	FBLN1	HP:0009702	Carpal synostosis
2192	FBLN1	HP:0009701	Metacarpal synostosis
2192	FBLN1	HP:0007030	Nonprogressive encephalopathy
2192	FBLN1	HP:0008368	Tarsal synostosis
2192	FBLN1	HP:0002342	Intellectual disability, moderate
2192	FBLN1	HP:0002307	Drooling
2192	FBLN1	HP:0000608	Macular degeneration
2192	FBLN1	HP:0031936	Delayed ability to walk
2192	FBLN1	HP:0000750	Delayed speech and language development
2192	FBLN1	HP:0011506	Choroidal neovascularization
2192	FBLN1	HP:0012469	Infantile spasms
2192	FBLN1	HP:0001770	Toe syndactyly
2193	FARSA	HP:0001166	Arachnodactyly
2193	FARSA	HP:0001290	Generalized hypotonia
2193	FARSA	HP:0001263	Global developmental delay
2193	FARSA	HP:0001397	Hepatic steatosis
2193	FARSA	HP:0001382	Joint hypermobility
2193	FARSA	HP:0008872	Feeding difficulties in infancy
2193	FARSA	HP:0000007	Autosomal recessive inheritance
2193	FARSA	HP:0002650	Scoliosis
2193	FARSA	HP:0001433	Hepatosplenomegaly
2193	FARSA	HP:0002091	Restrictive ventilatory defect
2193	FARSA	HP:0002155	Hypertriglyceridemia
2193	FARSA	HP:0003546	Exercise intolerance
2193	FARSA	HP:0007109	Periventricular cysts
2193	FARSA	HP:0001935	Microcytic anemia
2193	FARSA	HP:0004322	Short stature
2193	FARSA	HP:0003073	Hypoalbuminemia
2193	FARSA	HP:0012735	Cough
2193	FARSA	HP:0011461	Fetal onset
2193	FARSA	HP:0004428	Elfin facies
2193	FARSA	HP:0003199	Decreased muscle mass
2193	FARSA	HP:0000821	Hypothyroidism
2193	FARSA	HP:0040075	Hypopituitarism
2193	FARSA	HP:0000252	Microcephaly
2193	FARSA	HP:0001562	Oligohydramnios
2193	FARSA	HP:0006530	Abnormal pulmonary interstitial morphology
2193	FARSA	HP:0002910	Elevated hepatic transaminase
2193	FARSA	HP:0000490	Deeply set eye
2196	FAT2	HP:0001272	Cerebellar atrophy
2196	FAT2	HP:0001260	Dysarthria
2196	FAT2	HP:0000006	Autosomal dominant inheritance
2196	FAT2	HP:0002066	Gait ataxia
2196	FAT2	HP:0002070	Limb ataxia
2196	FAT2	HP:0010545	Downbeat nystagmus
2196	FAT2	HP:0003596	Middle age onset
2196	FAT2	HP:0003677	Slowly progressive
2200	FBN1	HP:0001169	Broad palm
2200	FBN1	HP:0009901	Crumpled ear
2200	FBN1	HP:0001187	Hyperextensibility of the finger joints
2200	FBN1	HP:0001181	Adducted thumb
2200	FBN1	HP:0001156	Brachydactyly
2200	FBN1	HP:0001166	Arachnodactyly
2200	FBN1	HP:0100960	Lateral ventricular asymmetry
2200	FBN1	HP:0007328	Impaired pain sensation
2200	FBN1	HP:0009918	Ectopia pupillae
2200	FBN1	HP:0003758	Reduced subcutaneous adipose tissue
2200	FBN1	HP:0001297	Stroke
2200	FBN1	HP:0100807	Long fingers
2200	FBN1	HP:0001270	Motor delay
2200	FBN1	HP:0001256	Intellectual disability, mild
2200	FBN1	HP:0001252	Hypotonia
2200	FBN1	HP:0001249	Intellectual disability
2200	FBN1	HP:0001265	Hyporeflexia
2200	FBN1	HP:0001230	Broad metacarpals
2200	FBN1	HP:0008734	Decreased testicular size
2200	FBN1	HP:0000098	Tall stature
2200	FBN1	HP:0001377	Limited elbow extension
2200	FBN1	HP:0001376	Limitation of joint mobility
2200	FBN1	HP:0001371	Flexion contracture
2200	FBN1	HP:0001387	Joint stiffness
2200	FBN1	HP:0001382	Joint hypermobility
2200	FBN1	HP:0012019	Lens luxation
2200	FBN1	HP:0002686	Prenatal maternal abnormality
2200	FBN1	HP:0000023	Inguinal hernia
2200	FBN1	HP:0002682	Broad skull
2200	FBN1	HP:0001363	Craniosynostosis
2200	FBN1	HP:0000028	Cryptorchidism
2200	FBN1	HP:0008872	Feeding difficulties in infancy
2200	FBN1	HP:0007485	Absence of subcutaneous fat
2200	FBN1	HP:0001324	Muscle weakness
2200	FBN1	HP:0001334	Communicating hydrocephalus
2200	FBN1	HP:0000006	Autosomal dominant inheritance
2200	FBN1	HP:0002650	Scoliosis
2200	FBN1	HP:0002647	Aortic dissection
2200	FBN1	HP:0002643	Neonatal respiratory distress
2200	FBN1	HP:0002616	Aortic root aneurysm
2200	FBN1	HP:0000189	Narrow palate
2200	FBN1	HP:0000179	Thick lower lip vermilion
2200	FBN1	HP:0012163	Carotid artery dilatation
2200	FBN1	HP:0000160	Narrow mouth
2200	FBN1	HP:0001482	Subcutaneous nodule
2200	FBN1	HP:0007676	Hypoplasia of the iris
2200	FBN1	HP:0007663	Reduced visual acuity
2200	FBN1	HP:0002705	High, narrow palate
2200	FBN1	HP:0002753	Thin bony cortex
2200	FBN1	HP:0002751	Kyphoscoliosis
2200	FBN1	HP:0002750	Delayed skeletal maturation
2200	FBN1	HP:0002020	Gastroesophageal reflux
2200	FBN1	HP:0002002	Deep philtrum
2200	FBN1	HP:0002007	Frontal bossing
2200	FBN1	HP:0003312	Abnormal form of the vertebral bodies
2200	FBN1	HP:0005978	Type II diabetes mellitus
2200	FBN1	HP:0003302	Spondylolisthesis
2200	FBN1	HP:0003300	Ovoid vertebral bodies
2200	FBN1	HP:0011800	Midface retrusion
2200	FBN1	HP:0100543	Cognitive impairment
2200	FBN1	HP:0002097	Emphysema
2200	FBN1	HP:0002092	Pulmonary arterial hypertension
2200	FBN1	HP:0002093	Respiratory insufficiency
2200	FBN1	HP:0030961	Microspherophakia
2200	FBN1	HP:0010446	Tricuspid stenosis
2200	FBN1	HP:0008132	Medial rotation of the medial malleolus
2200	FBN1	HP:0008138	Equinus calcaneus
2200	FBN1	HP:0008124	Talipes calcaneovarus
2200	FBN1	HP:0100578	Lipoatrophy
2200	FBN1	HP:0005930	Abnormal epiphysis morphology
2200	FBN1	HP:0005900	Fifth metacarpal with ulnar notch
2200	FBN1	HP:0002140	Ischemic stroke
2200	FBN1	HP:0002138	Subarachnoid hemorrhage
2200	FBN1	HP:0002119	Ventriculomegaly
2200	FBN1	HP:0002107	Pneumothorax
2200	FBN1	HP:0002104	Apnea
2200	FBN1	HP:0002105	Hemoptysis
2200	FBN1	HP:0003416	Spinal canal stenosis
2200	FBN1	HP:0100490	Camptodactyly of finger
2200	FBN1	HP:0010511	Long toe
2200	FBN1	HP:0010579	Cone-shaped epiphysis
2200	FBN1	HP:0003596	Middle age onset
2200	FBN1	HP:0002240	Hepatomegaly
2200	FBN1	HP:0003549	Abnormality of connective tissue
2200	FBN1	HP:0004872	Incisional hernia
2200	FBN1	HP:0200146	Mucoid extracellular matrix accumulation
2200	FBN1	HP:0100775	Dural ectasia
2200	FBN1	HP:0100749	Chest pain
2200	FBN1	HP:0011968	Feeding difficulties
2200	FBN1	HP:0003510	Severe short stature
2200	FBN1	HP:0003508	Proportionate short stature
2200	FBN1	HP:0001065	Striae distensae
2200	FBN1	HP:0003691	Scapular winging
2200	FBN1	HP:0002326	Transient ischemic attack
2200	FBN1	HP:0100679	Lack of skin elasticity
2200	FBN1	HP:0009830	Peripheral neuropathy
2200	FBN1	HP:0001097	Keratoconjunctivitis sicca
2200	FBN1	HP:0001072	Thickened skin
2200	FBN1	HP:0100625	Enlarged thorax
2200	FBN1	HP:0009803	Short phalanx of finger
2200	FBN1	HP:0001083	Ectopia lentis
2200	FBN1	HP:0200055	Small hand
2200	FBN1	HP:0100693	Iridodonesis
2200	FBN1	HP:0009778	Short thumb
2200	FBN1	HP:0010743	Short metatarsal
2200	FBN1	HP:0009768	Broad phalanges of the hand
2200	FBN1	HP:0004959	Descending thoracic aorta aneurysm
2200	FBN1	HP:0004970	Ascending tubular aorta aneurysm
2200	FBN1	HP:0002308	Chiari malformation
2200	FBN1	HP:0004933	Ascending aortic dissection
2200	FBN1	HP:0003621	Juvenile onset
2200	FBN1	HP:0004950	Peripheral arterial stenosis
2200	FBN1	HP:0004944	Dilatation of the cerebral artery
2200	FBN1	HP:0004942	Aortic aneurysm
2200	FBN1	HP:0004927	Pulmonary artery dilatation
2200	FBN1	HP:0004279	Short palm
2200	FBN1	HP:0000639	Nystagmus
2200	FBN1	HP:0000646	Amblyopia
2200	FBN1	HP:0000618	Blindness
2200	FBN1	HP:0010049	Short metacarpal
2200	FBN1	HP:0009064	Generalized lipodystrophy
2200	FBN1	HP:0000678	Dental crowding
2200	FBN1	HP:0000692	Tooth malposition
2200	FBN1	HP:0004322	Short stature
2200	FBN1	HP:0030680	Abnormality of cardiovascular system morphology
2200	FBN1	HP:0003088	Premature osteoarthritis
2200	FBN1	HP:0005692	Joint hyperflexibility
2200	FBN1	HP:0003042	Elbow dislocation
2200	FBN1	HP:0003011	Abnormality of the musculature
2200	FBN1	HP:0003026	Short long bone
2200	FBN1	HP:0000767	Pectus excavatum
2200	FBN1	HP:0000766	Abnormal sternum morphology
2200	FBN1	HP:0000768	Pectus carinatum
2200	FBN1	HP:0000762	Decreased nerve conduction velocity
2200	FBN1	HP:0011462	Young adult onset
2200	FBN1	HP:0012763	Paroxysmal dyspnea
2200	FBN1	HP:0012771	Increased arm span
2200	FBN1	HP:0012773	Reduced upper to lower segment ratio
2200	FBN1	HP:0009125	Lipodystrophy
2200	FBN1	HP:0000774	Narrow chest
2200	FBN1	HP:0012759	Neurodevelopmental abnormality
2200	FBN1	HP:0000787	Nephrolithiasis
2200	FBN1	HP:0003119	Abnormal circulating lipid concentration
2200	FBN1	HP:0030799	Scaphocephaly
2200	FBN1	HP:0003199	Decreased muscle mass
2200	FBN1	HP:0003196	Short nose
2200	FBN1	HP:0000921	Missing ribs
2200	FBN1	HP:0003179	Protrusio acetabuli
2200	FBN1	HP:0000885	Broad ribs
2200	FBN1	HP:0000822	Hypertension
2200	FBN1	HP:0005830	Flexion contracture of toe
2200	FBN1	HP:0000995	Melanocytic nevus
2200	FBN1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
2200	FBN1	HP:0000978	Bruising susceptibility
2200	FBN1	HP:0000974	Hyperextensible skin
2200	FBN1	HP:0000973	Cutis laxa
2200	FBN1	HP:0000965	Cutis marmorata
2200	FBN1	HP:0000938	Osteopenia
2200	FBN1	HP:0000944	Abnormal metaphysis morphology
2200	FBN1	HP:0008081	Pes valgus
2200	FBN1	HP:0008065	Aplasia/Hypoplasia of the skin
2200	FBN1	HP:0009381	Short finger
2200	FBN1	HP:0025599	Inferior oblique muscle overaction
2200	FBN1	HP:0025586	Hypertropia
2200	FBN1	HP:0000278	Retrognathia
2200	FBN1	HP:0000293	Full cheeks
2200	FBN1	HP:0000256	Macrocephaly
2200	FBN1	HP:0000275	Narrow face
2200	FBN1	HP:0000276	Long face
2200	FBN1	HP:0000272	Malar flattening
2200	FBN1	HP:0000268	Dolichocephaly
2200	FBN1	HP:0005136	Mitral annular calcification
2200	FBN1	HP:0006467	Limited shoulder movement
2200	FBN1	HP:0005112	Abdominal aortic aneurysm
2200	FBN1	HP:0002816	Genu recurvatum
2200	FBN1	HP:0002823	Abnormality of femur morphology
2200	FBN1	HP:0002808	Kyphosis
2200	FBN1	HP:0006380	Knee flexion contracture
2200	FBN1	HP:0000238	Hydrocephalus
2200	FBN1	HP:0000252	Microcephaly
2200	FBN1	HP:0000248	Brachycephaly
2200	FBN1	HP:0000219	Thin upper lip vermilion
2200	FBN1	HP:0000218	High palate
2200	FBN1	HP:0002875	Exertional dyspnea
2200	FBN1	HP:0001562	Oligohydramnios
2200	FBN1	HP:0002857	Genu valgum
2200	FBN1	HP:0001537	Umbilical hernia
2200	FBN1	HP:0001538	Protuberant abdomen
2200	FBN1	HP:0001508	Failure to thrive
2200	FBN1	HP:0001519	Disproportionate tall stature
2200	FBN1	HP:0001518	Small for gestational age
2200	FBN1	HP:0030053	Stiff skin
2200	FBN1	HP:0030051	Tip-toe gait
2200	FBN1	HP:0001511	Intrauterine growth retardation
2200	FBN1	HP:0007800	Increased axial length of the globe
2200	FBN1	HP:0012385	Camptodactyly
2200	FBN1	HP:0000391	Thickened helices
2200	FBN1	HP:0001609	Hoarse voice
2200	FBN1	HP:0002938	Lumbar hyperlordosis
2200	FBN1	HP:0005180	Tricuspid regurgitation
2200	FBN1	HP:0005162	Abnormal left ventricular function
2200	FBN1	HP:0006482	Abnormality of dental morphology
2200	FBN1	HP:0006487	Bowing of the long bones
2200	FBN1	HP:0000358	Posteriorly rotated ears
2200	FBN1	HP:0011003	High myopia
2200	FBN1	HP:0000369	Low-set ears
2200	FBN1	HP:0000343	Long philtrum
2200	FBN1	HP:0000337	Broad forehead
2200	FBN1	HP:0000348	High forehead
2200	FBN1	HP:0000347	Micrognathia
2200	FBN1	HP:0001677	Coronary artery atherosclerosis
2200	FBN1	HP:0001650	Aortic valve stenosis
2200	FBN1	HP:0000319	Smooth philtrum
2200	FBN1	HP:0001647	Bicuspid aortic valve
2200	FBN1	HP:0000316	Hypertelorism
2200	FBN1	HP:0001646	Abnormal aortic valve morphology
2200	FBN1	HP:0001643	Patent ductus arteriosus
2200	FBN1	HP:0000311	Round face
2200	FBN1	HP:0001642	Pulmonic stenosis
2200	FBN1	HP:0030148	Heart murmur
2200	FBN1	HP:0000327	Hypoplasia of the maxilla
2200	FBN1	HP:0001659	Aortic regurgitation
2200	FBN1	HP:0002987	Elbow flexion contracture
2200	FBN1	HP:0001653	Mitral regurgitation
2200	FBN1	HP:0000325	Triangular face
2200	FBN1	HP:0001629	Ventricular septal defect
2200	FBN1	HP:0001626	Abnormality of the cardiovascular system
2200	FBN1	HP:0001622	Premature birth
2200	FBN1	HP:0001640	Cardiomegaly
2200	FBN1	HP:0001635	Congestive heart failure
2200	FBN1	HP:0000303	Mandibular prognathia
2200	FBN1	HP:0001634	Mitral valve prolapse
2200	FBN1	HP:0032934	Spontaneous cerebrospinal fluid leak
2200	FBN1	HP:0012499	Descending aortic dissection
2200	FBN1	HP:0005328	Progeroid facial appearance
2200	FBN1	HP:0000407	Sensorineural hearing impairment
2200	FBN1	HP:0000405	Conductive hearing impairment
2200	FBN1	HP:0001704	Tricuspid valve prolapse
2200	FBN1	HP:0001718	Mitral stenosis
2200	FBN1	HP:0001713	Abnormal cardiac ventricle morphology
2200	FBN1	HP:0005280	Depressed nasal bridge
2200	FBN1	HP:0000483	Astigmatism
2200	FBN1	HP:0000486	Strabismus
2200	FBN1	HP:0000485	Megalocornea
2200	FBN1	HP:0000494	Downslanted palpebral fissures
2200	FBN1	HP:0000490	Deeply set eye
2200	FBN1	HP:0000463	Anteverted nares
2200	FBN1	HP:0000460	Narrow nose
2200	FBN1	HP:0001786	Narrow foot
2200	FBN1	HP:0011106	Hypovolemia
2200	FBN1	HP:0001773	Short foot
2200	FBN1	HP:0001763	Pes planus
2200	FBN1	HP:0001765	Hammertoe
2200	FBN1	HP:0001783	Broad metatarsal
2200	FBN1	HP:0012418	Hypoxemia
2200	FBN1	HP:0000418	Narrow nasal ridge
2200	FBN1	HP:0000414	Bulbous nose
2200	FBN1	HP:0000411	Protruding ear
2200	FBN1	HP:0000431	Wide nasal bridge
2200	FBN1	HP:0001761	Pes cavus
2200	FBN1	HP:0000426	Prominent nasal bridge
2200	FBN1	HP:0000518	Cataract
2200	FBN1	HP:0001840	Metatarsus adductus
2200	FBN1	HP:0000525	Abnormality iris morphology
2200	FBN1	HP:0000527	Long eyelashes
2200	FBN1	HP:0000520	Proptosis
2200	FBN1	HP:0000506	Telecanthus
2200	FBN1	HP:0000508	Ptosis
2200	FBN1	HP:0000505	Visual impairment
2200	FBN1	HP:0000501	Glaucoma
2200	FBN1	HP:0000577	Exotropia
2200	FBN1	HP:0000594	Shallow anterior chamber
2200	FBN1	HP:0000592	Blue sclerae
2200	FBN1	HP:0000586	Shallow orbits
2200	FBN1	HP:0011222	Depressed glabella
2200	FBN1	HP:0011220	Prominent forehead
2200	FBN1	HP:0000572	Visual loss
2200	FBN1	HP:0000565	Esotropia
2200	FBN1	HP:0000541	Retinal detachment
2200	FBN1	HP:0000534	Abnormal eyebrow morphology
2200	FBN1	HP:0001883	Talipes
2200	FBN1	HP:0000545	Myopia
2201	FBN2	HP:0009901	Crumpled ear
2201	FBN2	HP:0001181	Adducted thumb
2201	FBN2	HP:0001166	Arachnodactyly
2201	FBN2	HP:0008544	Abnormally folded helix
2201	FBN2	HP:0001270	Motor delay
2201	FBN2	HP:0002575	Tracheoesophageal fistula
2201	FBN2	HP:0001239	Wrist flexion contracture
2201	FBN2	HP:0002566	Intestinal malrotation
2201	FBN2	HP:0001377	Limited elbow extension
2201	FBN2	HP:0001371	Flexion contracture
2201	FBN2	HP:0001387	Joint stiffness
2201	FBN2	HP:0000006	Autosomal dominant inheritance
2201	FBN2	HP:0002650	Scoliosis
2201	FBN2	HP:0002616	Aortic root aneurysm
2201	FBN2	HP:0007663	Reduced visual acuity
2201	FBN2	HP:0008962	Calf muscle hypoplasia
2201	FBN2	HP:0002751	Kyphoscoliosis
2201	FBN2	HP:0002007	Frontal bossing
2201	FBN2	HP:0009465	Ulnar deviation of finger
2201	FBN2	HP:0010499	Patellar subluxation
2201	FBN2	HP:0100490	Camptodactyly of finger
2201	FBN2	HP:0011842	Abnormal skeletal morphology
2201	FBN2	HP:0003577	Congenital onset
2201	FBN2	HP:0002247	Duodenal atresia
2201	FBN2	HP:0001083	Ectopia lentis
2201	FBN2	HP:0008453	Congenital kyphoscoliosis
2201	FBN2	HP:0004942	Aortic aneurysm
2201	FBN2	HP:0000608	Macular degeneration
2201	FBN2	HP:0030680	Abnormality of cardiovascular system morphology
2201	FBN2	HP:0003066	Limited knee extension
2201	FBN2	HP:0003011	Abnormality of the musculature
2201	FBN2	HP:0005684	Distal arthrogryposis
2201	FBN2	HP:0000768	Pectus carinatum
2201	FBN2	HP:0012774	Increased upper to lower segment ratio
2201	FBN2	HP:0030799	Scaphocephaly
2201	FBN2	HP:0011506	Choroidal neovascularization
2201	FBN2	HP:0005879	Congenital finger flexion contractures
2201	FBN2	HP:0003273	Hip contracture
2201	FBN2	HP:0000938	Osteopenia
2201	FBN2	HP:0000268	Dolichocephaly
2201	FBN2	HP:0002803	Congenital contracture
2201	FBN2	HP:0002804	Arthrogryposis multiplex congenita
2201	FBN2	HP:0006380	Knee flexion contracture
2201	FBN2	HP:0000248	Brachycephaly
2201	FBN2	HP:0000218	High palate
2201	FBN2	HP:0001533	Slender build
2201	FBN2	HP:0001519	Disproportionate tall stature
2201	FBN2	HP:0012385	Camptodactyly
2201	FBN2	HP:0006487	Bowing of the long bones
2201	FBN2	HP:0002999	Patellar dislocation
2201	FBN2	HP:0000347	Micrognathia
2201	FBN2	HP:0001647	Bicuspid aortic valve
2201	FBN2	HP:0001643	Patent ductus arteriosus
2201	FBN2	HP:0002987	Elbow flexion contracture
2201	FBN2	HP:0001653	Mitral regurgitation
2201	FBN2	HP:0001629	Ventricular septal defect
2201	FBN2	HP:0001631	Atrial septal defect
2201	FBN2	HP:0001634	Mitral valve prolapse
2201	FBN2	HP:0000470	Short neck
2201	FBN2	HP:0001762	Talipes equinovarus
2201	FBN2	HP:0001840	Metatarsus adductus
2201	FBN2	HP:0000545	Myopia
2202	EFEMP1	HP:0001138	Optic neuropathy
2202	EFEMP1	HP:0007401	Macular atrophy
2202	EFEMP1	HP:0025326	Retinal arterial occlusion
2202	EFEMP1	HP:0000006	Autosomal dominant inheritance
2202	EFEMP1	HP:0012108	Open angle glaucoma
2202	EFEMP1	HP:0030500	Yellow/white lesions of the macula
2202	EFEMP1	HP:0030528	Paracentral scotoma
2202	EFEMP1	HP:0000613	Photophobia
2202	EFEMP1	HP:0000603	Central scotoma
2202	EFEMP1	HP:0030499	Macular drusen
2202	EFEMP1	HP:0012636	Retinal vein occlusion
2202	EFEMP1	HP:0030629	Perifoveal ring of hyperautofluorescence
2202	EFEMP1	HP:0030632	Hypoautofluorescent macular lesion
2202	EFEMP1	HP:0030631	Hyperautofluorescent macular lesion
2202	EFEMP1	HP:0012796	Increased cup-to-disc ratio
2202	EFEMP1	HP:0011509	Macular hyperpigmentation
2202	EFEMP1	HP:0011506	Choroidal neovascularization
2202	EFEMP1	HP:0007703	Abnormality of retinal pigmentation
2202	EFEMP1	HP:0025574	Macular hemorrhage
2202	EFEMP1	HP:0007793	Granular macular appearance
2202	EFEMP1	HP:0007754	Macular dystrophy
2202	EFEMP1	HP:0012231	Exudative retinal detachment
2202	EFEMP1	HP:0031526	Subretinal fluid
2202	EFEMP1	HP:0007854	Glaucomatous visual field defect
2202	EFEMP1	HP:0011003	High myopia
2202	EFEMP1	HP:0007950	Peripapillary chorioretinal atrophy
2202	EFEMP1	HP:0007937	Reticular pigmentary degeneration
2202	EFEMP1	HP:0007906	Ocular hypertension
2202	EFEMP1	HP:0007994	Peripheral visual field loss
2202	EFEMP1	HP:0012508	Metamorphopsia
2202	EFEMP1	HP:0000525	Abnormality iris morphology
2202	EFEMP1	HP:0000505	Visual impairment
2202	EFEMP1	HP:0000593	Abnormal anterior chamber morphology
2202	EFEMP1	HP:0000587	Abnormal optic nerve morphology
2202	EFEMP1	HP:0000556	Retinal dystrophy
2202	EFEMP1	HP:0000572	Visual loss
2202	EFEMP1	HP:0012511	Temporal optic disc pallor
2203	FBP1	HP:0001254	Lethargy
2203	FBP1	HP:0001250	Seizure
2203	FBP1	HP:0001252	Hypotonia
2203	FBP1	HP:0001249	Intellectual disability
2203	FBP1	HP:0001262	Excessive daytime somnolence
2203	FBP1	HP:0001259	Coma
2203	FBP1	HP:0001397	Hepatic steatosis
2203	FBP1	HP:0000007	Autosomal recessive inheritance
2203	FBP1	HP:0003348	Hyperalaninemia
2203	FBP1	HP:0040301	Increased urinary glycerol
2203	FBP1	HP:0002014	Diarrhea
2203	FBP1	HP:0002013	Vomiting
2203	FBP1	HP:0005949	Apneic episodes in infancy
2203	FBP1	HP:0002098	Respiratory distress
2203	FBP1	HP:0002094	Dyspnea
2203	FBP1	HP:0002149	Hyperuricemia
2203	FBP1	HP:0002119	Ventriculomegaly
2203	FBP1	HP:0002104	Apnea
2203	FBP1	HP:0002240	Hepatomegaly
2203	FBP1	HP:0004879	Intermittent hyperventilation
2203	FBP1	HP:0002329	Drowsiness
2203	FBP1	HP:0003623	Neonatal onset
2203	FBP1	HP:0004913	Intermittent lactic acidemia
2203	FBP1	HP:0001943	Hypoglycemia
2203	FBP1	HP:0001946	Ketosis
2203	FBP1	HP:0001945	Fever
2203	FBP1	HP:0001942	Metabolic acidosis
2203	FBP1	HP:0001998	Neonatal hypoglycemia
2203	FBP1	HP:0004372	Reduced consciousness/confusion
2203	FBP1	HP:0000737	Irritability
2203	FBP1	HP:0003162	Fasting hypoglycemia
2203	FBP1	HP:0003128	Lactic acidosis
2203	FBP1	HP:0003265	Neonatal hyperbilirubinemia
2203	FBP1	HP:0000980	Pallor
2203	FBP1	HP:0002883	Hyperventilation
2203	FBP1	HP:0002876	Episodic tachypnea
2203	FBP1	HP:0012379	Abnormal circulating enzyme concentration or activity
2203	FBP1	HP:0006582	Reye syndrome-like episodes
2203	FBP1	HP:0002910	Elevated hepatic transaminase
2203	FBP1	HP:0001649	Tachycardia
2206	MS4A2	HP:0000006	Autosomal dominant inheritance
2206	MS4A2	HP:0002099	Asthma
2206	MS4A2	HP:0003193	Allergic rhinitis
2206	MS4A2	HP:0003212	Increased circulating IgE level
2206	MS4A2	HP:0000964	Eczema
2212	FCGR2A	HP:0001250	Seizure
2212	FCGR2A	HP:0002595	Ileus
2212	FCGR2A	HP:0002570	Steatorrhea
2212	FCGR2A	HP:0032359	Decreased forced expiratory flow 25-75%
2212	FCGR2A	HP:0032341	Reduced forced vital capacity
2212	FCGR2A	HP:0032342	Reduced forced expiratory volume in one second
2212	FCGR2A	HP:0001394	Cirrhosis
2212	FCGR2A	HP:0001369	Arthritis
2212	FCGR2A	HP:0033726	Lupus nephritis
2212	FCGR2A	HP:0025300	Malar rash
2212	FCGR2A	HP:0000007	Autosomal recessive inheritance
2212	FCGR2A	HP:0000006	Autosomal dominant inheritance
2212	FCGR2A	HP:0002613	Biliary cirrhosis
2212	FCGR2A	HP:0000123	Nephritis
2212	FCGR2A	HP:0001433	Hepatosplenomegaly
2212	FCGR2A	HP:0002725	Systemic lupus erythematosus
2212	FCGR2A	HP:0002035	Rectal prolapse
2212	FCGR2A	HP:0002014	Diarrhea
2212	FCGR2A	HP:0002099	Asthma
2212	FCGR2A	HP:0100582	Nasal polyposis
2212	FCGR2A	HP:0002150	Hypercalciuria
2212	FCGR2A	HP:0002102	Pleuritis
2212	FCGR2A	HP:0002110	Bronchiectasis
2212	FCGR2A	HP:0002105	Hemoptysis
2212	FCGR2A	HP:0003493	Antinuclear antibody positivity
2212	FCGR2A	HP:0003593	Infantile onset
2212	FCGR2A	HP:0002240	Hepatomegaly
2212	FCGR2A	HP:0100759	Clubbing of fingers
2212	FCGR2A	HP:0003613	Antiphospholipid antibody positivity
2212	FCGR2A	HP:0001944	Dehydration
2212	FCGR2A	HP:0000709	Psychosis
2212	FCGR2A	HP:0011463	Childhood onset
2212	FCGR2A	HP:0004401	Meconium ileus
2212	FCGR2A	HP:0003251	Male infertility
2212	FCGR2A	HP:0000992	Cutaneous photosensitivity
2212	FCGR2A	HP:0012236	Elevated sweat chloride
2212	FCGR2A	HP:0001508	Failure to thrive
2212	FCGR2A	HP:0006538	Recurrent bronchopulmonary infections
2212	FCGR2A	HP:0006528	Chronic lung disease
2212	FCGR2A	HP:0006532	Recurrent pneumonia
2212	FCGR2A	HP:0001648	Cor pulmonale
2212	FCGR2A	HP:0001738	Exocrine pancreatic insufficiency
2212	FCGR2A	HP:0001733	Pancreatitis
2212	FCGR2A	HP:0001701	Pericarditis
2212	FCGR2A	HP:0011109	Chronic sinusitis
2212	FCGR2A	HP:0001882	Leukopenia
2212	FCGR2A	HP:0001878	Hemolytic anemia
2212	FCGR2A	HP:0001873	Thrombocytopenia
2213	FCGR2B	HP:0001250	Seizure
2213	FCGR2B	HP:0001369	Arthritis
2213	FCGR2B	HP:0033726	Lupus nephritis
2213	FCGR2B	HP:0025300	Malar rash
2213	FCGR2B	HP:0000006	Autosomal dominant inheritance
2213	FCGR2B	HP:0000123	Nephritis
2213	FCGR2B	HP:0002725	Systemic lupus erythematosus
2213	FCGR2B	HP:0002102	Pleuritis
2213	FCGR2B	HP:0003493	Antinuclear antibody positivity
2213	FCGR2B	HP:0003613	Antiphospholipid antibody positivity
2213	FCGR2B	HP:0000709	Psychosis
2213	FCGR2B	HP:0000992	Cutaneous photosensitivity
2213	FCGR2B	HP:0001701	Pericarditis
2213	FCGR2B	HP:0001882	Leukopenia
2213	FCGR2B	HP:0001878	Hemolytic anemia
2213	FCGR2B	HP:0001873	Thrombocytopenia
2214	FCGR3A	HP:0000007	Autosomal recessive inheritance
2214	FCGR3A	HP:0012178	Reduced natural killer cell activity
2214	FCGR3A	HP:0410028	Recurrent oral herpes
2214	FCGR3A	HP:0002721	Immunodeficiency
2214	FCGR3A	HP:0033166	Recurrent viral upper respiratory tract infections
2214	FCGR3A	HP:0003593	Infantile onset
2214	FCGR3A	HP:0002205	Recurrent respiratory infections
2214	FCGR3A	HP:0020086	BCGitis
2214	FCGR3A	HP:0032170	Severe varicella zoster infection
2214	FCGR3A	HP:0040218	Reduced natural killer cell count
2214	FCGR3A	HP:0030828	Wheezing
2214	FCGR3A	HP:0000403	Recurrent otitis media
2214	FCGR3A	HP:0011108	Recurrent sinusitis
2215	FCGR3B	HP:0100806	Sepsis
2215	FCGR3B	HP:0001287	Meningitis
2215	FCGR3B	HP:0032435	Neonatal omphalitis
2215	FCGR3B	HP:0005968	Temperature instability
2215	FCGR3B	HP:0002090	Pneumonia
2215	FCGR3B	HP:0003453	Antineutrophil antibody positivity
2215	FCGR3B	HP:0009800	Maternal diabetes
2215	FCGR3B	HP:0032169	Severe infection
2215	FCGR3B	HP:0001945	Fever
2215	FCGR3B	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
2215	FCGR3B	HP:0000952	Jaundice
2215	FCGR3B	HP:0005268	Miscarriage
2218	FKTN	HP:0003797	Limb-girdle muscle atrophy
2218	FKTN	HP:0002438	Cerebellar malformation
2218	FKTN	HP:0002435	Meningocele
2218	FKTN	HP:0001105	Retinal atrophy
2218	FKTN	HP:0007260	Type II lissencephaly
2218	FKTN	HP:0010864	Intellectual disability, severe
2218	FKTN	HP:0008551	Microtia
2218	FKTN	HP:0007227	Macrogyria
2218	FKTN	HP:0003741	Congenital muscular dystrophy
2218	FKTN	HP:0003701	Proximal muscle weakness
2218	FKTN	HP:0003712	Skeletal muscle hypertrophy
2218	FKTN	HP:0007291	Posterior fossa cyst
2218	FKTN	HP:0001290	Generalized hypotonia
2218	FKTN	HP:0001276	Hypertonia
2218	FKTN	HP:0001272	Cerebellar atrophy
2218	FKTN	HP:0001274	Agenesis of corpus callosum
2218	FKTN	HP:0001270	Motor delay
2218	FKTN	HP:0001288	Gait disturbance
2218	FKTN	HP:0001284	Areflexia
2218	FKTN	HP:0001250	Seizure
2218	FKTN	HP:0001252	Hypotonia
2218	FKTN	HP:0001249	Intellectual disability
2218	FKTN	HP:0001265	Hyporeflexia
2218	FKTN	HP:0001263	Global developmental delay
2218	FKTN	HP:0001262	Excessive daytime somnolence
2218	FKTN	HP:0008736	Hypoplasia of penis
2218	FKTN	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
2218	FKTN	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2218	FKTN	HP:0007348	Hypoplasia of the pyramidal tract
2218	FKTN	HP:0002536	Abnormal cortical gyration
2218	FKTN	HP:0003828	Variable expressivity
2218	FKTN	HP:0002500	Abnormal cerebral white matter morphology
2218	FKTN	HP:0001371	Flexion contracture
2218	FKTN	HP:0000050	Hypoplastic male external genitalia
2218	FKTN	HP:0001349	Facial diplegia
2218	FKTN	HP:0001360	Holoprosencephaly
2218	FKTN	HP:0001357	Plagiocephaly
2218	FKTN	HP:0000028	Cryptorchidism
2218	FKTN	HP:0008872	Feeding difficulties in infancy
2218	FKTN	HP:0001331	Absent septum pellucidum
2218	FKTN	HP:0001328	Specific learning disability
2218	FKTN	HP:0001324	Muscle weakness
2218	FKTN	HP:0001344	Absent speech
2218	FKTN	HP:0001339	Lissencephaly
2218	FKTN	HP:0000007	Autosomal recessive inheritance
2218	FKTN	HP:0001305	Dandy-Walker malformation
2218	FKTN	HP:0001302	Pachygyria
2218	FKTN	HP:0002650	Scoliosis
2218	FKTN	HP:0001321	Cerebellar hypoplasia
2218	FKTN	HP:0033755	Increased left ventricular end-diastolic volume
2218	FKTN	HP:0001319	Neonatal hypotonia
2218	FKTN	HP:0000193	Bifid uvula
2218	FKTN	HP:0000176	Submucous cleft hard palate
2218	FKTN	HP:0000175	Cleft palate
2218	FKTN	HP:0008981	Calf muscle hypertrophy
2218	FKTN	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
2218	FKTN	HP:0000110	Renal dysplasia
2218	FKTN	HP:0002751	Kyphoscoliosis
2218	FKTN	HP:0002023	Anal atresia
2218	FKTN	HP:0003326	Myalgia
2218	FKTN	HP:0003307	Hyperlordosis
2218	FKTN	HP:0003306	Spinal rigidity
2218	FKTN	HP:0003324	Generalized muscle weakness
2218	FKTN	HP:0002085	Occipital encephalocele
2218	FKTN	HP:0002084	Encephalocele
2218	FKTN	HP:0100543	Cognitive impairment
2218	FKTN	HP:0002093	Respiratory insufficiency
2218	FKTN	HP:0003394	Muscle spasm
2218	FKTN	HP:0003391	Gowers sign
2218	FKTN	HP:0002079	Hypoplasia of the corpus callosum
2218	FKTN	HP:0100578	Lipoatrophy
2218	FKTN	HP:0008180	Mildly elevated creatine kinase
2218	FKTN	HP:0002119	Ventriculomegaly
2218	FKTN	HP:0003457	EMG abnormality
2218	FKTN	HP:0002126	Polymicrogyria
2218	FKTN	HP:0003458	EMG: myopathic abnormalities
2218	FKTN	HP:0002187	Intellectual disability, profound
2218	FKTN	HP:0002167	Abnormality of speech or vocalization
2218	FKTN	HP:0100490	Camptodactyly of finger
2218	FKTN	HP:0010508	Metatarsus valgus
2218	FKTN	HP:0002267	Exaggerated startle response
2218	FKTN	HP:0003596	Middle age onset
2218	FKTN	HP:0003593	Infantile onset
2218	FKTN	HP:0002269	Abnormality of neuronal migration
2218	FKTN	HP:0003577	Congenital onset
2218	FKTN	HP:0003560	Muscular dystrophy
2218	FKTN	HP:0003557	Increased variability in muscle fiber diameter
2218	FKTN	HP:0002282	Gray matter heterotopia
2218	FKTN	HP:0007033	Cerebellar dysplasia
2218	FKTN	HP:0002365	Hypoplasia of the brainstem
2218	FKTN	HP:0002359	Frequent falls
2218	FKTN	HP:0003676	Progressive
2218	FKTN	HP:0002355	Difficulty walking
2218	FKTN	HP:0002353	EEG abnormality
2218	FKTN	HP:0002350	Cerebellar cyst
2218	FKTN	HP:0002334	Abnormal cerebellar vermis morphology
2218	FKTN	HP:0007126	Proximal amyotrophy
2218	FKTN	HP:0003621	Juvenile onset
2218	FKTN	HP:0006829	Severe muscular hypotonia
2218	FKTN	HP:0031882	Agyria
2218	FKTN	HP:0006888	Meningoencephalocele
2218	FKTN	HP:0000648	Optic atrophy
2218	FKTN	HP:0000618	Blindness
2218	FKTN	HP:0000612	Iris coloboma
2218	FKTN	HP:0000609	Optic nerve hypoplasia
2218	FKTN	HP:0012664	Reduced left ventricular ejection fraction
2218	FKTN	HP:0000659	Peters anomaly
2218	FKTN	HP:0004374	Hemiplegia/hemiparesis
2218	FKTN	HP:0100022	Abnormality of movement
2218	FKTN	HP:0000767	Pectus excavatum
2218	FKTN	HP:0000750	Delayed speech and language development
2218	FKTN	HP:0012793	Kinked brainstem
2218	FKTN	HP:0011463	Childhood onset
2218	FKTN	HP:0011462	Young adult onset
2218	FKTN	HP:0003198	Myopathy
2218	FKTN	HP:0040081	Abnormal circulating creatine kinase concentration
2218	FKTN	HP:0003236	Elevated circulating creatine kinase concentration
2218	FKTN	HP:0003202	Skeletal muscle atrophy
2218	FKTN	HP:0045040	Abnormal lactate dehydrogenase level
2218	FKTN	HP:0000982	Palmoplantar keratoderma
2218	FKTN	HP:0000298	Mask-like facies
2218	FKTN	HP:0000256	Macrocephaly
2218	FKTN	HP:0000268	Dolichocephaly
2218	FKTN	HP:0007731	Chorioretinal dysplasia
2218	FKTN	HP:0002803	Congenital contracture
2218	FKTN	HP:0030099	Reduced muscle fiber alpha dystroglycan
2218	FKTN	HP:0000238	Hydrocephalus
2218	FKTN	HP:0000252	Microcephaly
2218	FKTN	HP:0000248	Brachycephaly
2218	FKTN	HP:0000204	Cleft upper lip
2218	FKTN	HP:0030046	Hypoglycosylation of alpha-dystroglycan
2218	FKTN	HP:0030051	Tip-toe gait
2218	FKTN	HP:0001511	Intrauterine growth retardation
2218	FKTN	HP:0001608	Abnormality of the voice
2218	FKTN	HP:0001612	Weak cry
2218	FKTN	HP:0012345	Abnormal glycosylation
2218	FKTN	HP:0000358	Posteriorly rotated ears
2218	FKTN	HP:0000369	Low-set ears
2218	FKTN	HP:0000340	Sloping forehead
2218	FKTN	HP:0001669	Transposition of the great arteries
2218	FKTN	HP:0001685	Myocardial fibrosis
2218	FKTN	HP:0000347	Micrognathia
2218	FKTN	HP:0001642	Pulmonic stenosis
2218	FKTN	HP:0001644	Dilated cardiomyopathy
2218	FKTN	HP:0001631	Atrial septal defect
2218	FKTN	HP:0007957	Corneal opacity
2218	FKTN	HP:0007973	Retinal dysplasia
2218	FKTN	HP:0000407	Sensorineural hearing impairment
2218	FKTN	HP:0000486	Strabismus
2218	FKTN	HP:0000485	Megalocornea
2218	FKTN	HP:0000482	Microcornea
2218	FKTN	HP:0000496	Abnormality of eye movement
2218	FKTN	HP:0001771	Achilles tendon contracture
2218	FKTN	HP:0012400	Abnormal circulating aldolase concentration
2218	FKTN	HP:0000411	Protruding ear
2218	FKTN	HP:0000413	Atresia of the external auditory canal
2218	FKTN	HP:0001762	Talipes equinovarus
2218	FKTN	HP:0000518	Cataract
2218	FKTN	HP:0000528	Anophthalmia
2218	FKTN	HP:0000505	Visual impairment
2218	FKTN	HP:0000501	Glaucoma
2218	FKTN	HP:0000587	Abnormal optic nerve morphology
2218	FKTN	HP:0000589	Coloboma
2218	FKTN	HP:0012548	Fatty replacement of skeletal muscle
2218	FKTN	HP:0000557	Buphthalmos
2218	FKTN	HP:0000556	Retinal dystrophy
2218	FKTN	HP:0000568	Microphthalmia
2218	FKTN	HP:0000541	Retinal detachment
2218	FKTN	HP:0000540	Hypermetropia
2218	FKTN	HP:0001874	Abnormality of neutrophils
2218	FKTN	HP:0000545	Myopia
2222	FDFT1	HP:0009887	Abnormality of hair pigmentation
2222	FDFT1	HP:0001250	Seizure
2222	FDFT1	HP:0008689	Bilateral cryptorchidism
2222	FDFT1	HP:0000047	Hypospadias
2222	FDFT1	HP:0000007	Autosomal recessive inheritance
2222	FDFT1	HP:0002019	Constipation
2222	FDFT1	HP:0004691	2-3 toe syndactyly
2222	FDFT1	HP:0002079	Hypoplasia of the corpus callosum
2222	FDFT1	HP:0033146	Elevated circulating methylsuccinic acid concentration
2222	FDFT1	HP:0002126	Polymicrogyria
2222	FDFT1	HP:0100704	Cerebral visual impairment
2222	FDFT1	HP:0003563	Decreased LDL cholesterol concentration
2222	FDFT1	HP:0000609	Optic nerve hypoplasia
2222	FDFT1	HP:0012736	Profound global developmental delay
2222	FDFT1	HP:0000737	Irritability
2222	FDFT1	HP:0011471	Gastrostomy tube feeding in infancy
2222	FDFT1	HP:0003100	Slender long bone
2222	FDFT1	HP:0003146	Hypocholesterolemia
2222	FDFT1	HP:0033083	Increased circulating farnesol concentration
2222	FDFT1	HP:0000992	Cutaneous photosensitivity
2222	FDFT1	HP:0000958	Dry skin
2222	FDFT1	HP:0000286	Epicanthus
2222	FDFT1	HP:0000278	Retrognathia
2222	FDFT1	HP:0006380	Knee flexion contracture
2222	FDFT1	HP:0001531	Failure to thrive in infancy
2222	FDFT1	HP:0001511	Intrauterine growth retardation
2222	FDFT1	HP:0000358	Posteriorly rotated ears
2222	FDFT1	HP:0000369	Low-set ears
2222	FDFT1	HP:0000347	Micrognathia
2222	FDFT1	HP:0001647	Bicuspid aortic valve
2222	FDFT1	HP:0002987	Elbow flexion contracture
2222	FDFT1	HP:0000400	Macrotia
2222	FDFT1	HP:0005280	Depressed nasal bridge
2224	FDPS	HP:0000006	Autosomal dominant inheritance
2224	FDPS	HP:0003596	Middle age onset
2224	FDPS	HP:0200044	Porokeratosis
2224	FDPS	HP:0003621	Juvenile onset
2224	FDPS	HP:0011462	Young adult onset
2224	FDPS	HP:0000992	Cutaneous photosensitivity
2224	FDPS	HP:0000989	Pruritus
2224	FDPS	HP:0002860	Squamous cell carcinoma
2232	FDXR	HP:0002465	Poor speech
2232	FDXR	HP:0010862	Delayed fine motor development
2232	FDXR	HP:0001276	Hypertonia
2232	FDXR	HP:0001272	Cerebellar atrophy
2232	FDXR	HP:0001273	Abnormal corpus callosum morphology
2232	FDXR	HP:0001250	Seizure
2232	FDXR	HP:0001252	Hypotonia
2232	FDXR	HP:0001251	Ataxia
2232	FDXR	HP:0001263	Global developmental delay
2232	FDXR	HP:0001257	Spasticity
2232	FDXR	HP:0007333	Hypoplasia of the frontal lobes
2232	FDXR	HP:0008665	Clitoral hypertrophy
2232	FDXR	HP:0002506	Diffuse cerebral atrophy
2232	FDXR	HP:0000062	Ambiguous genitalia
2232	FDXR	HP:0012087	Abnormal mitochondrial shape
2232	FDXR	HP:0000007	Autosomal recessive inheritance
2232	FDXR	HP:0001320	Cerebellar vermis hypoplasia
2232	FDXR	HP:0008936	Axial hypotonia
2232	FDXR	HP:0002066	Gait ataxia
2232	FDXR	HP:0002079	Hypoplasia of the corpus callosum
2232	FDXR	HP:0002134	Abnormal basal ganglia morphology
2232	FDXR	HP:0002194	Delayed gross motor development
2232	FDXR	HP:0002376	Developmental regression
2232	FDXR	HP:0002353	EEG abnormality
2232	FDXR	HP:0100602	Preeclampsia
2232	FDXR	HP:0003621	Juvenile onset
2232	FDXR	HP:0000639	Nystagmus
2232	FDXR	HP:0000648	Optic atrophy
2232	FDXR	HP:0000618	Blindness
2232	FDXR	HP:0000603	Central scotoma
2232	FDXR	HP:0012697	Small basal ganglia
2232	FDXR	HP:0100022	Abnormality of movement
2232	FDXR	HP:0000750	Delayed speech and language development
2232	FDXR	HP:0012794	Periventricular white matter hypodensities
2232	FDXR	HP:0011463	Childhood onset
2232	FDXR	HP:0000252	Microcephaly
2232	FDXR	HP:0001508	Failure to thrive
2232	FDXR	HP:0000365	Hearing impairment
2232	FDXR	HP:0001622	Premature birth
2232	FDXR	HP:0012448	Delayed myelination
2232	FDXR	HP:0012430	Cerebral white matter hypoplasia
2232	FDXR	HP:0000518	Cataract
2232	FDXR	HP:0000510	Rod-cone dystrophy
2232	FDXR	HP:0000505	Visual impairment
2235	FECH	HP:0001399	Hepatic failure
2235	FECH	HP:0001394	Cirrhosis
2235	FECH	HP:0000007	Autosomal recessive inheritance
2235	FECH	HP:0001410	Decreased liver function
2235	FECH	HP:0010472	Abnormal circulating porphyrin concentration
2235	FECH	HP:0002155	Hypertriglyceridemia
2235	FECH	HP:0001081	Cholelithiasis
2235	FECH	HP:0010783	Erythema
2235	FECH	HP:0001935	Microcytic anemia
2235	FECH	HP:0011463	Childhood onset
2235	FECH	HP:0000992	Cutaneous photosensitivity
2235	FECH	HP:0000989	Pruritus
2235	FECH	HP:0000969	Edema
2235	FECH	HP:0000964	Eczema
2235	FECH	HP:0001878	Hemolytic anemia
2239	GPC4	HP:0001169	Broad palm
2239	GPC4	HP:0001156	Brachydactyly
2239	GPC4	HP:0001162	Postaxial hand polydactyly
2239	GPC4	HP:0009908	Anterior creases of earlobe
2239	GPC4	HP:0009882	Short distal phalanx of finger
2239	GPC4	HP:0001274	Agenesis of corpus callosum
2239	GPC4	HP:0001270	Motor delay
2239	GPC4	HP:0001250	Seizure
2239	GPC4	HP:0001252	Hypotonia
2239	GPC4	HP:0001249	Intellectual disability
2239	GPC4	HP:0001263	Global developmental delay
2239	GPC4	HP:0001233	2-3 finger syndactyly
2239	GPC4	HP:0002558	Supernumerary nipple
2239	GPC4	HP:0002566	Intestinal malrotation
2239	GPC4	HP:0006101	Finger syndactyly
2239	GPC4	HP:0008736	Hypoplasia of penis
2239	GPC4	HP:0000098	Tall stature
2239	GPC4	HP:0000073	Ureteral duplication
2239	GPC4	HP:0000072	Hydroureter
2239	GPC4	HP:0001374	Congenital hip dislocation
2239	GPC4	HP:0001388	Joint laxity
2239	GPC4	HP:0000047	Hypospadias
2239	GPC4	HP:0000023	Inguinal hernia
2239	GPC4	HP:0000028	Cryptorchidism
2239	GPC4	HP:0006176	Two carpal ossification centers present at birth
2239	GPC4	HP:0002664	Neoplasm
2239	GPC4	HP:0002667	Nephroblastoma
2239	GPC4	HP:0000003	Multicystic kidney dysplasia
2239	GPC4	HP:0000006	Autosomal dominant inheritance
2239	GPC4	HP:0001305	Dandy-Walker malformation
2239	GPC4	HP:0001320	Cerebellar vermis hypoplasia
2239	GPC4	HP:0002650	Scoliosis
2239	GPC4	HP:0002643	Neonatal respiratory distress
2239	GPC4	HP:0000189	Narrow palate
2239	GPC4	HP:0000158	Macroglossia
2239	GPC4	HP:0000175	Cleft palate
2239	GPC4	HP:0000154	Wide mouth
2239	GPC4	HP:0007687	Unilateral ptosis
2239	GPC4	HP:0002705	High, narrow palate
2239	GPC4	HP:0000126	Hydronephrosis
2239	GPC4	HP:0001428	Somatic mutation
2239	GPC4	HP:0000107	Renal cyst
2239	GPC4	HP:0000105	Enlarged kidney
2239	GPC4	HP:0001419	X-linked recessive inheritance
2239	GPC4	HP:0002714	Downturned corners of mouth
2239	GPC4	HP:0002711	Exaggerated median tongue furrow
2239	GPC4	HP:0002023	Anal atresia
2239	GPC4	HP:0011800	Midface retrusion
2239	GPC4	HP:0100543	Cognitive impairment
2239	GPC4	HP:0003375	Narrow greater sciatic notch
2239	GPC4	HP:0011710	Bundle branch block
2239	GPC4	HP:0002101	Abnormal lung lobation
2239	GPC4	HP:0003422	Vertebral segmentation defect
2239	GPC4	HP:0002167	Abnormality of speech or vocalization
2239	GPC4	HP:0002164	Nail dysplasia
2239	GPC4	HP:0100490	Camptodactyly of finger
2239	GPC4	HP:0009536	Short 2nd finger
2239	GPC4	HP:0002263	Exaggerated cupid's bow
2239	GPC4	HP:0002245	Meckel diverticulum
2239	GPC4	HP:0002240	Hepatomegaly
2239	GPC4	HP:0008416	Six lumbar vertebrae
2239	GPC4	HP:0010624	Aplastic/hypoplastic toenail
2239	GPC4	HP:0003517	Birth length greater than 97th percentile
2239	GPC4	HP:0008523	Posterior helix pit
2239	GPC4	HP:0009836	Broad distal phalanx of finger
2239	GPC4	HP:0010804	Tented upper lip vermilion
2239	GPC4	HP:0004209	Clinodactyly of the 5th finger
2239	GPC4	HP:0010059	Broad hallux phalanx
2239	GPC4	HP:0004279	Short palm
2239	GPC4	HP:0005580	Duplication of renal pelvis
2239	GPC4	HP:0001943	Hypoglycemia
2239	GPC4	HP:0010055	Broad hallux
2239	GPC4	HP:0011330	Metopic synostosis
2239	GPC4	HP:0000689	Dental malocclusion
2239	GPC4	HP:0011304	Broad thumb
2239	GPC4	HP:0004322	Short stature
2239	GPC4	HP:0005616	Accelerated skeletal maturation
2239	GPC4	HP:0030680	Abnormality of cardiovascular system morphology
2239	GPC4	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
2239	GPC4	HP:0003006	Neuroblastoma
2239	GPC4	HP:0009101	Submucous cleft lip
2239	GPC4	HP:0000772	Abnormal rib morphology
2239	GPC4	HP:0000767	Pectus excavatum
2239	GPC4	HP:0000768	Pectus carinatum
2239	GPC4	HP:0000750	Delayed speech and language development
2239	GPC4	HP:0000708	Atypical behavior
2239	GPC4	HP:0010109	Short hallux
2239	GPC4	HP:0000773	Short ribs
2239	GPC4	HP:0000776	Congenital diaphragmatic hernia
2239	GPC4	HP:0003196	Short nose
2239	GPC4	HP:0003185	Short greater sciatic notch
2239	GPC4	HP:0004467	Preauricular pit
2239	GPC4	HP:0004464	Postauricular pit
2239	GPC4	HP:0000879	Short sternum
2239	GPC4	HP:0000891	Cervical ribs
2239	GPC4	HP:0003212	Increased circulating IgE level
2239	GPC4	HP:0004510	Pancreatic islet-cell hyperplasia
2239	GPC4	HP:0000998	Hypertrichosis
2239	GPC4	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
2239	GPC4	HP:0100259	Postaxial polydactyly
2239	GPC4	HP:0009381	Short finger
2239	GPC4	HP:0011675	Arrhythmia
2239	GPC4	HP:0000286	Epicanthus
2239	GPC4	HP:0000280	Coarse facial features
2239	GPC4	HP:0000297	Facial hypotonia
2239	GPC4	HP:0000256	Macrocephaly
2239	GPC4	HP:0030084	Clinodactyly
2239	GPC4	HP:0000243	Trigonocephaly
2239	GPC4	HP:0000238	Hydrocephalus
2239	GPC4	HP:0002898	Embryonal neoplasm
2239	GPC4	HP:0002884	Hepatoblastoma
2239	GPC4	HP:0001548	Overgrowth
2239	GPC4	HP:0000212	Gingival overgrowth
2239	GPC4	HP:0000215	Thick upper lip vermilion
2239	GPC4	HP:0001561	Polyhydramnios
2239	GPC4	HP:0001522	Death in infancy
2239	GPC4	HP:0001540	Diastasis recti
2239	GPC4	HP:0002869	Flared iliac wing
2239	GPC4	HP:0001537	Umbilical hernia
2239	GPC4	HP:0001539	Omphalocele
2239	GPC4	HP:0000204	Cleft upper lip
2239	GPC4	HP:0012385	Camptodactyly
2239	GPC4	HP:0000384	Preauricular skin tag
2239	GPC4	HP:0011039	Abnormal helix morphology
2239	GPC4	HP:0001609	Hoarse voice
2239	GPC4	HP:0001608	Abnormality of the voice
2239	GPC4	HP:0002948	Vertebral fusion
2239	GPC4	HP:0005160	Total anomalous pulmonary venous return
2239	GPC4	HP:0000365	Hearing impairment
2239	GPC4	HP:0000369	Low-set ears
2239	GPC4	HP:0000368	Low-set, posteriorly rotated ears
2239	GPC4	HP:0001669	Transposition of the great arteries
2239	GPC4	HP:0000337	Broad forehead
2239	GPC4	HP:0001667	Right ventricular hypertrophy
2239	GPC4	HP:0000316	Hypertelorism
2239	GPC4	HP:0001643	Patent ductus arteriosus
2239	GPC4	HP:0001642	Pulmonic stenosis
2239	GPC4	HP:0000327	Hypoplasia of the maxilla
2239	GPC4	HP:0001657	Prolonged QT interval
2239	GPC4	HP:0001629	Ventricular septal defect
2239	GPC4	HP:0001638	Cardiomyopathy
2239	GPC4	HP:0001631	Atrial septal defect
2239	GPC4	HP:0000303	Mandibular prognathia
2239	GPC4	HP:0006610	Wide intermamillary distance
2239	GPC4	HP:0000407	Sensorineural hearing impairment
2239	GPC4	HP:0005280	Depressed nasal bridge
2239	GPC4	HP:0000486	Strabismus
2239	GPC4	HP:0012471	Thick vermilion border
2239	GPC4	HP:0000494	Downslanted palpebral fissures
2239	GPC4	HP:0001792	Small nail
2239	GPC4	HP:0000463	Anteverted nares
2239	GPC4	HP:0000470	Short neck
2239	GPC4	HP:0000465	Webbed neck
2239	GPC4	HP:0001799	Short nail
2239	GPC4	HP:0001770	Toe syndactyly
2239	GPC4	HP:0001773	Short foot
2239	GPC4	HP:0001769	Broad foot
2239	GPC4	HP:0000448	Prominent nose
2239	GPC4	HP:0000445	Wide nose
2239	GPC4	HP:0001748	Polysplenia
2239	GPC4	HP:0001744	Splenomegaly
2239	GPC4	HP:0001762	Talipes equinovarus
2239	GPC4	HP:0000431	Wide nasal bridge
2239	GPC4	HP:0000426	Prominent nasal bridge
2239	GPC4	HP:0001837	Broad toe
2239	GPC4	HP:0000508	Ptosis
2239	GPC4	HP:0001831	Short toe
2239	GPC4	HP:0001802	Absent toenail
2239	GPC4	HP:0011220	Prominent forehead
2243	FGA	HP:0003819	Death in childhood
2243	FGA	HP:0003811	Neonatal death
2243	FGA	HP:0000093	Proteinuria
2243	FGA	HP:0001396	Cholestasis
2243	FGA	HP:0001386	Joint swelling
2243	FGA	HP:0001342	Cerebral hemorrhage
2243	FGA	HP:0000007	Autosomal recessive inheritance
2243	FGA	HP:0000006	Autosomal dominant inheritance
2243	FGA	HP:0006298	Prolonged bleeding after dental extraction
2243	FGA	HP:0000100	Nephrotic syndrome
2243	FGA	HP:0000112	Nephropathy
2243	FGA	HP:0011900	Hypofibrinogenemia
2243	FGA	HP:0011884	Abnormal umbilical stump bleeding
2243	FGA	HP:0003593	Infantile onset
2243	FGA	HP:0003577	Congenital onset
2243	FGA	HP:0002240	Hepatomegaly
2243	FGA	HP:0002239	Gastrointestinal hemorrhage
2243	FGA	HP:0002248	Hematemesis
2243	FGA	HP:0009830	Peripheral neuropathy
2243	FGA	HP:0004936	Venous thrombosis
2243	FGA	HP:0001934	Persistent bleeding after trauma
2243	FGA	HP:0400008	Menometrorrhagia
2243	FGA	HP:0011463	Childhood onset
2243	FGA	HP:0000790	Hematuria
2243	FGA	HP:0011421	Death in adolescence
2243	FGA	HP:0100310	Epidural hemorrhage
2243	FGA	HP:0034287	Afibrinogenemia
2243	FGA	HP:0100309	Subdural hemorrhage
2243	FGA	HP:0000822	Hypertension
2243	FGA	HP:0003216	Generalized amyloid deposition
2243	FGA	HP:0000978	Bruising susceptibility
2243	FGA	HP:0000988	Skin rash
2243	FGA	HP:0000969	Edema
2243	FGA	HP:0012223	Splenic rupture
2243	FGA	HP:0000225	Gingival bleeding
2243	FGA	HP:0001522	Death in infancy
2243	FGA	HP:0005268	Miscarriage
2243	FGA	HP:0030137	Prolonged bleeding following circumcision
2243	FGA	HP:0001744	Splenomegaly
2243	FGA	HP:0000421	Epistaxis
2243	FGA	HP:0001892	Abnormal bleeding
2244	FGB	HP:0003819	Death in childhood
2244	FGB	HP:0003811	Neonatal death
2244	FGB	HP:0001386	Joint swelling
2244	FGB	HP:0001342	Cerebral hemorrhage
2244	FGB	HP:0000007	Autosomal recessive inheritance
2244	FGB	HP:0006298	Prolonged bleeding after dental extraction
2244	FGB	HP:0011900	Hypofibrinogenemia
2244	FGB	HP:0011884	Abnormal umbilical stump bleeding
2244	FGB	HP:0003593	Infantile onset
2244	FGB	HP:0003577	Congenital onset
2244	FGB	HP:0002239	Gastrointestinal hemorrhage
2244	FGB	HP:0002248	Hematemesis
2244	FGB	HP:0004936	Venous thrombosis
2244	FGB	HP:0001934	Persistent bleeding after trauma
2244	FGB	HP:0400008	Menometrorrhagia
2244	FGB	HP:0011463	Childhood onset
2244	FGB	HP:0011421	Death in adolescence
2244	FGB	HP:0100310	Epidural hemorrhage
2244	FGB	HP:0034287	Afibrinogenemia
2244	FGB	HP:0100309	Subdural hemorrhage
2244	FGB	HP:0000978	Bruising susceptibility
2244	FGB	HP:0012223	Splenic rupture
2244	FGB	HP:0000225	Gingival bleeding
2244	FGB	HP:0001522	Death in infancy
2244	FGB	HP:0005268	Miscarriage
2244	FGB	HP:0030137	Prolonged bleeding following circumcision
2244	FGB	HP:0000421	Epistaxis
2244	FGB	HP:0001892	Abnormal bleeding
2245	FGD1	HP:0001169	Broad palm
2245	FGD1	HP:0001187	Hyperextensibility of the finger joints
2245	FGD1	HP:0001156	Brachydactyly
2245	FGD1	HP:0001159	Syndactyly
2245	FGD1	HP:0032277	Lozenge-shaped umbilicus
2245	FGD1	HP:0008572	External ear malformation
2245	FGD1	HP:0009890	High anterior hairline
2245	FGD1	HP:0001256	Intellectual disability, mild
2245	FGD1	HP:0001263	Global developmental delay
2245	FGD1	HP:0006101	Finger syndactyly
2245	FGD1	HP:0008689	Bilateral cryptorchidism
2245	FGD1	HP:0001388	Joint laxity
2245	FGD1	HP:0000049	Shawl scrotum
2245	FGD1	HP:0000023	Inguinal hernia
2245	FGD1	HP:0000029	Testicular atrophy
2245	FGD1	HP:0000028	Cryptorchidism
2245	FGD1	HP:0002650	Scoliosis
2245	FGD1	HP:0000164	Abnormality of the dentition
2245	FGD1	HP:0000175	Cleft palate
2245	FGD1	HP:0000144	Decreased fertility
2245	FGD1	HP:0001419	X-linked recessive inheritance
2245	FGD1	HP:0003311	Hypoplasia of the odontoid process
2245	FGD1	HP:0003318	Cervical spine hypermobility
2245	FGD1	HP:0003319	Abnormality of the cervical spine
2245	FGD1	HP:0100543	Cognitive impairment
2245	FGD1	HP:0002055	Curved linear dimple below the lower lip
2245	FGD1	HP:0009466	Radial deviation of finger
2245	FGD1	HP:0100490	Camptodactyly of finger
2245	FGD1	HP:0008232	Elevated circulating follicle stimulating hormone level
2245	FGD1	HP:0009748	Large earlobe
2245	FGD1	HP:0007018	Attention deficit hyperactivity disorder
2245	FGD1	HP:0011969	Elevated circulating luteinizing hormone level
2245	FGD1	HP:0003502	Mild short stature
2245	FGD1	HP:0200055	Small hand
2245	FGD1	HP:0004209	Clinodactyly of the 5th finger
2245	FGD1	HP:0004279	Short palm
2245	FGD1	HP:0000684	Delayed eruption of teeth
2245	FGD1	HP:0000668	Hypodontia
2245	FGD1	HP:0004322	Short stature
2245	FGD1	HP:0005640	Abnormal vertebral segmentation and fusion
2245	FGD1	HP:0030680	Abnormality of cardiovascular system morphology
2245	FGD1	HP:0005692	Joint hyperflexibility
2245	FGD1	HP:0000767	Pectus excavatum
2245	FGD1	HP:0000708	Atypical behavior
2245	FGD1	HP:0012774	Increased upper to lower segment ratio
2245	FGD1	HP:0003196	Short nose
2245	FGD1	HP:0000823	Delayed puberty
2245	FGD1	HP:0009237	Short 5th finger
2245	FGD1	HP:0000974	Hyperextensible skin
2245	FGD1	HP:0000954	Single transverse palmar crease
2245	FGD1	HP:0040171	Decreased serum testosterone concentration
2245	FGD1	HP:0000286	Epicanthus
2245	FGD1	HP:0000289	Broad philtrum
2245	FGD1	HP:0002816	Genu recurvatum
2245	FGD1	HP:0030084	Clinodactyly
2245	FGD1	HP:0001544	Prominent umbilicus
2245	FGD1	HP:0000232	Everted lower lip vermilion
2245	FGD1	HP:0001537	Umbilical hernia
2245	FGD1	HP:0000202	Orofacial cleft
2245	FGD1	HP:0000204	Cleft upper lip
2245	FGD1	HP:0001508	Failure to thrive
2245	FGD1	HP:0000368	Low-set, posteriorly rotated ears
2245	FGD1	HP:0000343	Long philtrum
2245	FGD1	HP:0000337	Broad forehead
2245	FGD1	HP:0000349	Widow's peak
2245	FGD1	HP:0000316	Hypertelorism
2245	FGD1	HP:0000311	Round face
2245	FGD1	HP:0000327	Hypoplasia of the maxilla
2245	FGD1	HP:0001635	Congestive heart failure
2245	FGD1	HP:0000486	Strabismus
2245	FGD1	HP:0000485	Megalocornea
2245	FGD1	HP:0000494	Downslanted palpebral fissures
2245	FGD1	HP:0000463	Anteverted nares
2245	FGD1	HP:0000470	Short neck
2245	FGD1	HP:0001773	Short foot
2245	FGD1	HP:0001769	Broad foot
2245	FGD1	HP:0001763	Pes planus
2245	FGD1	HP:0000431	Wide nasal bridge
2245	FGD1	HP:0000508	Ptosis
2245	FGD1	HP:0000540	Hypermetropia
2245	FGD1	HP:0001883	Talipes
2248	FGF3	HP:0003771	Pulp calcification
2248	FGF3	HP:0008551	Microtia
2248	FGF3	HP:0001291	Abnormal cranial nerve morphology
2248	FGF3	HP:0000098	Tall stature
2248	FGF3	HP:0000007	Autosomal recessive inheritance
2248	FGF3	HP:0006342	Peg-shaped maxillary lateral incisors
2248	FGF3	HP:0010609	Skin tags
2248	FGF3	HP:0002194	Delayed gross motor development
2248	FGF3	HP:0003577	Congenital onset
2248	FGF3	HP:0100719	Lens coloboma
2248	FGF3	HP:0008499	High hypermetropia
2248	FGF3	HP:0000612	Iris coloboma
2248	FGF3	HP:0011372	Aplasia of the inner ear
2248	FGF3	HP:0000698	Conical tooth
2248	FGF3	HP:0000682	Abnormal dental enamel morphology
2248	FGF3	HP:0000684	Delayed eruption of teeth
2248	FGF3	HP:0000679	Taurodontia
2248	FGF3	HP:0000691	Microdontia
2248	FGF3	HP:0000687	Widely spaced teeth
2248	FGF3	HP:0000670	Carious teeth
2248	FGF3	HP:0000668	Hypodontia
2248	FGF3	HP:0000664	Synophrys
2248	FGF3	HP:0000704	Periodontitis
2248	FGF3	HP:0011476	Profound sensorineural hearing impairment
2248	FGF3	HP:0040080	Anteverted ears
2248	FGF3	HP:0000293	Full cheeks
2248	FGF3	HP:0000276	Long face
2248	FGF3	HP:0006479	Abnormal dental pulp morphology
2248	FGF3	HP:0000212	Gingival overgrowth
2248	FGF3	HP:0031353	Otitis media with effusion
2248	FGF3	HP:0011069	Supernumerary tooth
2248	FGF3	HP:0011078	Abnormality of canine
2248	FGF3	HP:0011070	Abnormal molar morphology
2248	FGF3	HP:0011068	Odontoma
2248	FGF3	HP:0011051	Agenesis of premolar
2248	FGF3	HP:0000365	Hearing impairment
2248	FGF3	HP:0000343	Long philtrum
2248	FGF3	HP:0000347	Micrognathia
2248	FGF3	HP:0000316	Hypertelorism
2248	FGF3	HP:0000326	Abnormal maxilla morphology
2248	FGF3	HP:0000307	Pointed chin
2248	FGF3	HP:0000408	Progressive sensorineural hearing impairment
2248	FGF3	HP:0000407	Sensorineural hearing impairment
2248	FGF3	HP:0000486	Strabismus
2248	FGF3	HP:0000480	Retinal coloboma
2248	FGF3	HP:0000482	Microcornea
2248	FGF3	HP:0000494	Downslanted palpebral fissures
2248	FGF3	HP:0000463	Anteverted nares
2248	FGF3	HP:0000448	Prominent nose
2248	FGF3	HP:0000431	Wide nasal bridge
2248	FGF3	HP:0000430	Underdeveloped nasal alae
2248	FGF3	HP:0001757	High-frequency sensorineural hearing impairment
2248	FGF3	HP:0000518	Cataract
2248	FGF3	HP:0011266	Microtia, first degree
2248	FGF3	HP:0000568	Microphthalmia
2250	FGF5	HP:0000007	Autosomal recessive inheritance
2250	FGF5	HP:0000518	Cataract
2250	FGF5	HP:0000527	Long eyelashes
2253	FGF8	HP:0002465	Poor speech
2253	FGF8	HP:0002474	Expressive language delay
2253	FGF8	HP:0003782	Eunuchoid habitus
2253	FGF8	HP:0002451	Limb dystonia
2253	FGF8	HP:0007301	Oromotor apraxia
2253	FGF8	HP:0009932	Single naris
2253	FGF8	HP:0009914	Cyclopia
2253	FGF8	HP:0002418	Abnormal midbrain morphology
2253	FGF8	HP:0001290	Generalized hypotonia
2253	FGF8	HP:0001274	Agenesis of corpus callosum
2253	FGF8	HP:0001273	Abnormal corpus callosum morphology
2253	FGF8	HP:0001288	Gait disturbance
2253	FGF8	HP:0001254	Lethargy
2253	FGF8	HP:0001250	Seizure
2253	FGF8	HP:0001252	Hypotonia
2253	FGF8	HP:0001251	Ataxia
2253	FGF8	HP:0001249	Intellectual disability
2253	FGF8	HP:0001260	Dysarthria
2253	FGF8	HP:0001257	Spasticity
2253	FGF8	HP:0008734	Decreased testicular size
2253	FGF8	HP:0008736	Hypoplasia of penis
2253	FGF8	HP:0008724	Hypoplasia of the ovary
2253	FGF8	HP:0007375	Abnormal septum pellucidum morphology
2253	FGF8	HP:0002540	Inability to walk
2253	FGF8	HP:0000062	Ambiguous genitalia
2253	FGF8	HP:0000044	Hypogonadotropic hypogonadism
2253	FGF8	HP:0001371	Flexion contracture
2253	FGF8	HP:0000054	Micropenis
2253	FGF8	HP:0001355	Megalencephaly
2253	FGF8	HP:0001360	Holoprosencephaly
2253	FGF8	HP:0000026	Male hypogonadism
2253	FGF8	HP:0000028	Cryptorchidism
2253	FGF8	HP:0000027	Azoospermia
2253	FGF8	HP:0000002	Abnormality of body height
2253	FGF8	HP:0001328	Specific learning disability
2253	FGF8	HP:0001324	Muscle weakness
2253	FGF8	HP:0000013	Hypoplasia of the uterus
2253	FGF8	HP:0001344	Absent speech
2253	FGF8	HP:0000008	Abnormal morphology of female internal genitalia
2253	FGF8	HP:0001335	Bimanual synkinesia
2253	FGF8	HP:0001337	Tremor
2253	FGF8	HP:0000006	Autosomal dominant inheritance
2253	FGF8	HP:0002652	Skeletal dysplasia
2253	FGF8	HP:0002650	Scoliosis
2253	FGF8	HP:0000193	Bifid uvula
2253	FGF8	HP:0000164	Abnormality of the dentition
2253	FGF8	HP:0000161	Median cleft lip
2253	FGF8	HP:0000175	Cleft palate
2253	FGF8	HP:0000144	Decreased fertility
2253	FGF8	HP:0410030	Cleft lip
2253	FGF8	HP:0006315	Solitary median maxillary central incisor
2253	FGF8	HP:0008947	Infantile muscular hypotonia
2253	FGF8	HP:0012110	Hypoplasia of the pons
2253	FGF8	HP:0000118	Phenotypic abnormality
2253	FGF8	HP:0000119	Abnormality of the genitourinary system
2253	FGF8	HP:0000134	Female hypogonadism
2253	FGF8	HP:0002793	Abnormal pattern of respiration
2253	FGF8	HP:0002761	Generalized joint laxity
2253	FGF8	HP:0002757	Recurrent fractures
2253	FGF8	HP:0000104	Renal agenesis
2253	FGF8	HP:0002750	Delayed skeletal maturation
2253	FGF8	HP:0002020	Gastroesophageal reflux
2253	FGF8	HP:0002019	Constipation
2253	FGF8	HP:0002033	Poor suck
2253	FGF8	HP:0002015	Dysphagia
2253	FGF8	HP:0002013	Vomiting
2253	FGF8	HP:0040327	Abnormal morphology of the olfactory bulb
2253	FGF8	HP:0005968	Temperature instability
2253	FGF8	HP:0002099	Asthma
2253	FGF8	HP:0008197	Absence of pubertal development
2253	FGF8	HP:0008187	Absence of secondary sex characteristics
2253	FGF8	HP:0011787	Central hypothyroidism
2253	FGF8	HP:0003468	Abnormal vertebral morphology
2253	FGF8	HP:0003458	EMG: myopathic abnormalities
2253	FGF8	HP:0010550	Paraplegia
2253	FGF8	HP:0002270	Abnormality of the autonomic nervous system
2253	FGF8	HP:0100704	Cerebral visual impairment
2253	FGF8	HP:0100710	Impulsivity
2253	FGF8	HP:0002247	Duodenal atresia
2253	FGF8	HP:0002231	Sparse body hair
2253	FGF8	HP:0010654	Aplasia of the falx cerebri
2253	FGF8	HP:0007018	Attention deficit hyperactivity disorder
2253	FGF8	HP:0010644	Midnasal stenosis
2253	FGF8	HP:0011968	Feeding difficulties
2253	FGF8	HP:0011961	Non-obstructive azoospermia
2253	FGF8	HP:0011951	Aspiration pneumonia
2253	FGF8	HP:0002363	Abnormal brainstem morphology
2253	FGF8	HP:0001028	Hemangioma
2253	FGF8	HP:0008527	Congenital sensorineural hearing impairment
2253	FGF8	HP:0010804	Tented upper lip vermilion
2253	FGF8	HP:0009804	Tooth agenesis
2253	FGF8	HP:0009800	Maternal diabetes
2253	FGF8	HP:0100639	Erectile dysfunction
2253	FGF8	HP:0031860	Abnormal heart rate variability
2253	FGF8	HP:0000639	Nystagmus
2253	FGF8	HP:0000612	Iris coloboma
2253	FGF8	HP:0000601	Hypotelorism
2253	FGF8	HP:0009062	Infantile axial hypotonia
2253	FGF8	HP:0012650	Perisylvian polymicrogyria
2253	FGF8	HP:0004322	Short stature
2253	FGF8	HP:0006979	Sleep-wake cycle disturbance
2253	FGF8	HP:0030680	Abnormality of cardiovascular system morphology
2253	FGF8	HP:0000802	Impotence
2253	FGF8	HP:0031913	Rhombencephalosynapsis
2253	FGF8	HP:0004349	Reduced bone mineral density
2253	FGF8	HP:0000772	Abnormal rib morphology
2253	FGF8	HP:0000771	Gynecomastia
2253	FGF8	HP:0000737	Irritability
2253	FGF8	HP:0000739	Anxiety
2253	FGF8	HP:0000736	Short attention span
2253	FGF8	HP:0012718	Morphological abnormality of the gastrointestinal tract
2253	FGF8	HP:0000741	Apathy
2253	FGF8	HP:0000716	Depression
2253	FGF8	HP:0000708	Atypical behavior
2253	FGF8	HP:0011471	Gastrostomy tube feeding in infancy
2253	FGF8	HP:0011442	Abnormal central motor function
2253	FGF8	HP:0000786	Primary amenorrhea
2253	FGF8	HP:0004409	Hyposmia
2253	FGF8	HP:0003196	Short nose
2253	FGF8	HP:0000924	Abnormality of the skeletal system
2253	FGF8	HP:0003187	Breast hypoplasia
2253	FGF8	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
2253	FGF8	HP:0004478	Ethmoidal encephalocele
2253	FGF8	HP:0000873	Diabetes insipidus
2253	FGF8	HP:0000871	Panhypopituitarism
2253	FGF8	HP:0000869	Secondary amenorrhea
2253	FGF8	HP:0000863	Central diabetes insipidus
2253	FGF8	HP:0000830	Anterior hypopituitarism
2253	FGF8	HP:0012806	Proboscis
2253	FGF8	HP:0000818	Abnormality of the endocrine system
2253	FGF8	HP:0000826	Precocious puberty
2253	FGF8	HP:0000821	Hypothyroidism
2253	FGF8	HP:0000824	Decreased response to growth hormone stimulation test
2253	FGF8	HP:0000823	Delayed puberty
2253	FGF8	HP:0040064	Abnormality of limbs
2253	FGF8	HP:0000939	Osteoporosis
2253	FGF8	HP:0045005	Neural tube defect
2253	FGF8	HP:0000938	Osteopenia
2253	FGF8	HP:0040171	Decreased serum testosterone concentration
2253	FGF8	HP:0008064	Ichthyosis
2253	FGF8	HP:0012285	Abnormal hypothalamus physiology
2253	FGF8	HP:0000256	Macrocephaly
2253	FGF8	HP:0002827	Hip dislocation
2253	FGF8	HP:0000238	Hydrocephalus
2253	FGF8	HP:0000252	Microcephaly
2253	FGF8	HP:0000218	High palate
2253	FGF8	HP:0001545	Anteriorly placed anus
2253	FGF8	HP:0030016	Dyspareunia
2253	FGF8	HP:0030019	Increased female libido
2253	FGF8	HP:0002871	Central apnea
2253	FGF8	HP:0000202	Orofacial cleft
2253	FGF8	HP:0001508	Failure to thrive
2253	FGF8	HP:0001511	Intrauterine growth retardation
2253	FGF8	HP:0001510	Growth delay
2253	FGF8	HP:0001513	Obesity
2253	FGF8	HP:0012385	Camptodactyly
2253	FGF8	HP:0006528	Chronic lung disease
2253	FGF8	HP:0001608	Abnormality of the voice
2253	FGF8	HP:0001680	Coarctation of aorta
2253	FGF8	HP:0000316	Hypertelorism
2253	FGF8	HP:0000322	Short philtrum
2253	FGF8	HP:0001627	Abnormal heart morphology
2253	FGF8	HP:0001622	Premature birth
2253	FGF8	HP:0001636	Tetralogy of Fallot
2253	FGF8	HP:0006610	Wide intermamillary distance
2253	FGF8	HP:0000407	Sensorineural hearing impairment
2253	FGF8	HP:0005280	Depressed nasal bridge
2253	FGF8	HP:0000486	Strabismus
2253	FGF8	HP:0000478	Abnormality of the eye
2253	FGF8	HP:0000463	Anteverted nares
2253	FGF8	HP:0000458	Anosmia
2253	FGF8	HP:0000457	Depressed nasal ridge
2253	FGF8	HP:0001763	Pes planus
2253	FGF8	HP:0000453	Choanal atresia
2253	FGF8	HP:0000446	Narrow nasal bridge
2253	FGF8	HP:0001761	Pes cavus
2253	FGF8	HP:0012506	Small pituitary gland
2253	FGF8	HP:0000508	Ptosis
2253	FGF8	HP:0000505	Visual impairment
2253	FGF8	HP:0000551	Color vision defect
2254	FGF9	HP:0001156	Brachydactyly
2254	FGF9	HP:0006064	Limited interphalangeal movement
2254	FGF9	HP:0001387	Joint stiffness
2254	FGF9	HP:0000006	Autosomal dominant inheritance
2254	FGF9	HP:0000175	Cleft palate
2254	FGF9	HP:0007598	Bilateral single transverse palmar creases
2254	FGF9	HP:0001440	Metatarsal synostosis
2254	FGF9	HP:0010579	Cone-shaped epiphysis
2254	FGF9	HP:0009701	Metacarpal synostosis
2254	FGF9	HP:0010621	Cutaneous syndactyly of toes
2254	FGF9	HP:0009773	Symphalangism affecting the phalanges of the hand
2254	FGF9	HP:0004279	Short palm
2254	FGF9	HP:0010055	Broad hallux
2254	FGF9	HP:0011304	Broad thumb
2254	FGF9	HP:0003041	Humeroradial synostosis
2254	FGF9	HP:0008080	Hallux varus
2254	FGF9	HP:0001597	Abnormality of the nail
2254	FGF9	HP:0000268	Dolichocephaly
2254	FGF9	HP:0000324	Facial asymmetry
2254	FGF9	HP:0002967	Cubitus valgus
2254	FGF9	HP:0000405	Conductive hearing impairment
2254	FGF9	HP:0000520	Proptosis
2255	FGF10	HP:0001172	Abnormal thumb morphology
2255	FGF10	HP:0001159	Syndactyly
2255	FGF10	HP:0009942	Duplication of thumb phalanx
2255	FGF10	HP:0009926	Epiphora
2255	FGF10	HP:0008551	Microtia
2255	FGF10	HP:0001250	Seizure
2255	FGF10	HP:0001263	Global developmental delay
2255	FGF10	HP:0006101	Finger syndactyly
2255	FGF10	HP:0000089	Renal hypoplasia
2255	FGF10	HP:0000076	Vesicoureteral reflux
2255	FGF10	HP:0001369	Arthritis
2255	FGF10	HP:0000028	Cryptorchidism
2255	FGF10	HP:0000006	Autosomal dominant inheritance
2255	FGF10	HP:0002650	Scoliosis
2255	FGF10	HP:0000193	Bifid uvula
2255	FGF10	HP:0000164	Abnormality of the dentition
2255	FGF10	HP:0012155	Decreased corneal sensation
2255	FGF10	HP:0007656	Lacrimal gland aplasia
2255	FGF10	HP:0006297	Enamel hypoplasia
2255	FGF10	HP:0012108	Open angle glaucoma
2255	FGF10	HP:0000126	Hydronephrosis
2255	FGF10	HP:0002015	Dysphagia
2255	FGF10	HP:0002164	Nail dysplasia
2255	FGF10	HP:0001096	Keratoconjunctivitis
2255	FGF10	HP:0001097	Keratoconjunctivitis sicca
2255	FGF10	HP:0001092	Absent lacrimal punctum
2255	FGF10	HP:0009777	Absent thumb
2255	FGF10	HP:0009778	Short thumb
2255	FGF10	HP:0032107	Limbal stem cell deficiency
2255	FGF10	HP:0000682	Abnormal dental enamel morphology
2255	FGF10	HP:0000691	Microdontia
2255	FGF10	HP:0000670	Carious teeth
2255	FGF10	HP:0000668	Hypodontia
2255	FGF10	HP:0001999	Abnormal facial shape
2255	FGF10	HP:0011487	Increased corneal thickness
2255	FGF10	HP:0011496	Corneal neovascularization
2255	FGF10	HP:0011482	Abnormal lacrimal gland morphology
2255	FGF10	HP:0011481	Abnormal lacrimal duct morphology
2255	FGF10	HP:0012804	Corneal ulceration
2255	FGF10	HP:0000813	Bicornuate uterus
2255	FGF10	HP:0010286	Abnormal salivary gland morphology
2255	FGF10	HP:0007732	Lacrimal gland hypoplasia
2255	FGF10	HP:0030084	Clinodactyly
2255	FGF10	HP:0000217	Xerostomia
2255	FGF10	HP:0000202	Orofacial cleft
2255	FGF10	HP:0000378	Cupped ear
2255	FGF10	HP:0000377	Abnormal pinna morphology
2255	FGF10	HP:0007892	Hypoplasia of the lacrimal punctum
2255	FGF10	HP:0000369	Low-set ears
2255	FGF10	HP:0000347	Micrognathia
2255	FGF10	HP:0001643	Patent ductus arteriosus
2255	FGF10	HP:0002984	Hypoplasia of the radius
2255	FGF10	HP:0007925	Lacrimal duct aplasia
2255	FGF10	HP:0005349	Hypoplasia of the epiglottis
2255	FGF10	HP:0000407	Sensorineural hearing impairment
2255	FGF10	HP:0000405	Conductive hearing impairment
2255	FGF10	HP:0000478	Abnormality of the eye
2255	FGF10	HP:0000495	Recurrent corneal erosions
2255	FGF10	HP:0000458	Anosmia
2255	FGF10	HP:0001770	Toe syndactyly
2255	FGF10	HP:0000453	Choanal atresia
2255	FGF10	HP:0000410	Mixed hearing impairment
2255	FGF10	HP:0011297	Abnormal digit morphology
2255	FGF10	HP:0000508	Ptosis
2255	FGF10	HP:0000577	Exotropia
2257	FGF12	HP:0002465	Poor speech
2257	FGF12	HP:0002421	Poor head control
2257	FGF12	HP:0001298	Encephalopathy
2257	FGF12	HP:0001290	Generalized hypotonia
2257	FGF12	HP:0001272	Cerebellar atrophy
2257	FGF12	HP:0001273	Abnormal corpus callosum morphology
2257	FGF12	HP:0001268	Mental deterioration
2257	FGF12	HP:0001288	Gait disturbance
2257	FGF12	HP:0001250	Seizure
2257	FGF12	HP:0001252	Hypotonia
2257	FGF12	HP:0001251	Ataxia
2257	FGF12	HP:0001249	Intellectual disability
2257	FGF12	HP:0001265	Hyporeflexia
2257	FGF12	HP:0001263	Global developmental delay
2257	FGF12	HP:0001257	Spasticity
2257	FGF12	HP:0007359	Focal-onset seizure
2257	FGF12	HP:0002540	Inability to walk
2257	FGF12	HP:0002521	Hypsarrhythmia
2257	FGF12	HP:0002509	Limb hypertonia
2257	FGF12	HP:0001344	Absent speech
2257	FGF12	HP:0001337	Tremor
2257	FGF12	HP:0000006	Autosomal dominant inheritance
2257	FGF12	HP:0001336	Myoclonus
2257	FGF12	HP:0001315	Reduced tendon reflexes
2257	FGF12	HP:0008936	Axial hypotonia
2257	FGF12	HP:0002020	Gastroesophageal reflux
2257	FGF12	HP:0002069	Bilateral tonic-clonic seizure
2257	FGF12	HP:0002063	Rigidity
2257	FGF12	HP:0002070	Limb ataxia
2257	FGF12	HP:0002059	Cerebral atrophy
2257	FGF12	HP:0002133	Status epilepticus
2257	FGF12	HP:0002187	Intellectual disability, profound
2257	FGF12	HP:0003593	Infantile onset
2257	FGF12	HP:0100704	Cerebral visual impairment
2257	FGF12	HP:0100710	Impulsivity
2257	FGF12	HP:0200134	Epileptic encephalopathy
2257	FGF12	HP:0007018	Attention deficit hyperactivity disorder
2257	FGF12	HP:0011968	Feeding difficulties
2257	FGF12	HP:0002376	Developmental regression
2257	FGF12	HP:0002355	Difficulty walking
2257	FGF12	HP:0002353	EEG abnormality
2257	FGF12	HP:0002317	Unsteady gait
2257	FGF12	HP:0010841	Multifocal epileptiform discharges
2257	FGF12	HP:0010844	EEG with multifocal slow activity
2257	FGF12	HP:0100660	Dyskinesia
2257	FGF12	HP:0003623	Neonatal onset
2257	FGF12	HP:0000639	Nystagmus
2257	FGF12	HP:0000648	Optic atrophy
2257	FGF12	HP:0000668	Hypodontia
2257	FGF12	HP:0004322	Short stature
2257	FGF12	HP:0004305	Involuntary movements
2257	FGF12	HP:0000750	Delayed speech and language development
2257	FGF12	HP:0000717	Autism
2257	FGF12	HP:0000713	Agitation
2257	FGF12	HP:0000708	Atypical behavior
2257	FGF12	HP:0011443	Abnormality of coordination
2257	FGF12	HP:0000252	Microcephaly
2257	FGF12	HP:0001558	Decreased fetal movement
2257	FGF12	HP:0001508	Failure to thrive
2257	FGF12	HP:0007843	Attenuation of retinal blood vessels
2257	FGF12	HP:0032792	Tonic seizure
2257	FGF12	HP:0000348	High forehead
2257	FGF12	HP:0000494	Downslanted palpebral fissures
2257	FGF12	HP:0012444	Brain atrophy
2257	FGF12	HP:0012447	Abnormal myelination
2257	FGF12	HP:0012450	Chronic constipation
2257	FGF12	HP:0005484	Secondary microcephaly
2257	FGF12	HP:0000508	Ptosis
2257	FGF12	HP:0000504	Abnormality of vision
2257	FGF12	HP:0012547	Abnormal involuntary eye movements
2257	FGF12	HP:0000546	Retinal degeneration
2257	FGF12	HP:0000543	Optic disc pallor
2258	FGF13	HP:0010945	Fetal pyelectasis
2258	FGF13	HP:0010851	EEG with burst suppression
2258	FGF13	HP:0002421	Poor head control
2258	FGF13	HP:0001298	Encephalopathy
2258	FGF13	HP:0001290	Generalized hypotonia
2258	FGF13	HP:0001273	Abnormal corpus callosum morphology
2258	FGF13	HP:0001268	Mental deterioration
2258	FGF13	HP:0001250	Seizure
2258	FGF13	HP:0001252	Hypotonia
2258	FGF13	HP:0001251	Ataxia
2258	FGF13	HP:0001249	Intellectual disability
2258	FGF13	HP:0001265	Hyporeflexia
2258	FGF13	HP:0001263	Global developmental delay
2258	FGF13	HP:0001257	Spasticity
2258	FGF13	HP:0007359	Focal-onset seizure
2258	FGF13	HP:0002521	Hypsarrhythmia
2258	FGF13	HP:0002509	Limb hypertonia
2258	FGF13	HP:0001337	Tremor
2258	FGF13	HP:0001336	Myoclonus
2258	FGF13	HP:0001315	Reduced tendon reflexes
2258	FGF13	HP:0001419	X-linked recessive inheritance
2258	FGF13	HP:0002020	Gastroesophageal reflux
2258	FGF13	HP:0002019	Constipation
2258	FGF13	HP:0002027	Abdominal pain
2258	FGF13	HP:0005949	Apneic episodes in infancy
2258	FGF13	HP:0002069	Bilateral tonic-clonic seizure
2258	FGF13	HP:0002063	Rigidity
2258	FGF13	HP:0002059	Cerebral atrophy
2258	FGF13	HP:0003487	Babinski sign
2258	FGF13	HP:0002133	Status epilepticus
2258	FGF13	HP:0003593	Infantile onset
2258	FGF13	HP:0100710	Impulsivity
2258	FGF13	HP:0007018	Attention deficit hyperactivity disorder
2258	FGF13	HP:0011968	Feeding difficulties
2258	FGF13	HP:0002384	Focal impaired awareness seizure
2258	FGF13	HP:0002376	Developmental regression
2258	FGF13	HP:0002355	Difficulty walking
2258	FGF13	HP:0002317	Unsteady gait
2258	FGF13	HP:0010844	EEG with multifocal slow activity
2258	FGF13	HP:0100660	Dyskinesia
2258	FGF13	HP:0003623	Neonatal onset
2258	FGF13	HP:0000639	Nystagmus
2258	FGF13	HP:0000648	Optic atrophy
2258	FGF13	HP:0011344	Severe global developmental delay
2258	FGF13	HP:0000668	Hypodontia
2258	FGF13	HP:0004322	Short stature
2258	FGF13	HP:0004305	Involuntary movements
2258	FGF13	HP:0012736	Profound global developmental delay
2258	FGF13	HP:0000750	Delayed speech and language development
2258	FGF13	HP:0000717	Autism
2258	FGF13	HP:0000729	Autistic behavior
2258	FGF13	HP:0000708	Atypical behavior
2258	FGF13	HP:0011443	Abnormality of coordination
2258	FGF13	HP:0011448	Ankle clonus
2258	FGF13	HP:0000821	Hypothyroidism
2258	FGF13	HP:0000252	Microcephaly
2258	FGF13	HP:0001558	Decreased fetal movement
2258	FGF13	HP:0001508	Failure to thrive
2258	FGF13	HP:0000348	High forehead
2258	FGF13	HP:0001631	Atrial septal defect
2258	FGF13	HP:0000494	Downslanted palpebral fissures
2258	FGF13	HP:0012444	Brain atrophy
2258	FGF13	HP:0012447	Abnormal myelination
2258	FGF13	HP:0000508	Ptosis
2258	FGF13	HP:0000504	Abnormality of vision
2258	FGF13	HP:0012547	Abnormal involuntary eye movements
2258	FGF13	HP:0000546	Retinal degeneration
2259	FGF14	HP:0002495	Impaired vibratory sensation
2259	FGF14	HP:0001272	Cerebellar atrophy
2259	FGF14	HP:0001288	Gait disturbance
2259	FGF14	HP:0001256	Intellectual disability, mild
2259	FGF14	HP:0001260	Dysarthria
2259	FGF14	HP:0001337	Tremor
2259	FGF14	HP:0000006	Autosomal dominant inheritance
2259	FGF14	HP:0007670	Abnormal vestibulo-ocular reflex
2259	FGF14	HP:0002066	Gait ataxia
2259	FGF14	HP:0003390	Sensory axonal neuropathy
2259	FGF14	HP:0002078	Truncal ataxia
2259	FGF14	HP:0002070	Limb ataxia
2259	FGF14	HP:0002174	Postural tremor
2259	FGF14	HP:0010545	Downbeat nystagmus
2259	FGF14	HP:0010526	Dysgraphia
2259	FGF14	HP:0003581	Adult onset
2259	FGF14	HP:0002378	Hand tremor
2259	FGF14	HP:0002355	Difficulty walking
2259	FGF14	HP:0002354	Memory impairment
2259	FGF14	HP:0003680	Nonprogressive
2259	FGF14	HP:0002321	Vertigo
2259	FGF14	HP:0002310	Orofacial dyskinesia
2259	FGF14	HP:0002304	Akinesia
2259	FGF14	HP:0007179	Absent smooth pursuit
2259	FGF14	HP:0000640	Gaze-evoked nystagmus
2259	FGF14	HP:0000651	Diplopia
2259	FGF14	HP:0000642	Red-green dyschromatopsia
2259	FGF14	HP:0000716	Depression
2259	FGF14	HP:0000718	Aggressive behavior
2259	FGF14	HP:0011477	Upbeat nystagmus
2259	FGF14	HP:0011463	Childhood onset
2259	FGF14	HP:0007772	Impaired smooth pursuit
2259	FGF14	HP:0007979	Gaze-evoked horizontal nystagmus
2259	FGF14	HP:0000486	Strabismus
2259	FGF14	HP:0001761	Pes cavus
2260	FGFR1	HP:0001171	Split hand
2260	FGFR1	HP:0001169	Broad palm
2260	FGFR1	HP:0001156	Brachydactyly
2260	FGFR1	HP:0001159	Syndactyly
2260	FGFR1	HP:0002465	Poor speech
2260	FGFR1	HP:0003795	Short middle phalanx of toe
2260	FGFR1	HP:0001140	Limbal dermoid
2260	FGFR1	HP:0003782	Eunuchoid habitus
2260	FGFR1	HP:0002451	Limb dystonia
2260	FGFR1	HP:0002445	Tetraplegia
2260	FGFR1	HP:0007301	Oromotor apraxia
2260	FGFR1	HP:0009932	Single naris
2260	FGFR1	HP:0009914	Cyclopia
2260	FGFR1	HP:0003745	Sporadic
2260	FGFR1	HP:0002410	Aqueductal stenosis
2260	FGFR1	HP:0001276	Hypertonia
2260	FGFR1	HP:0001274	Agenesis of corpus callosum
2260	FGFR1	HP:0001269	Hemiparesis
2260	FGFR1	HP:0001288	Gait disturbance
2260	FGFR1	HP:0001254	Lethargy
2260	FGFR1	HP:0001250	Seizure
2260	FGFR1	HP:0001252	Hypotonia
2260	FGFR1	HP:0001251	Ataxia
2260	FGFR1	HP:0001249	Intellectual disability
2260	FGFR1	HP:0001260	Dysarthria
2260	FGFR1	HP:0001263	Global developmental delay
2260	FGFR1	HP:0001257	Spasticity
2260	FGFR1	HP:0001230	Broad metacarpals
2260	FGFR1	HP:0002575	Tracheoesophageal fistula
2260	FGFR1	HP:0006110	Shortening of all middle phalanges of the fingers
2260	FGFR1	HP:0006101	Finger syndactyly
2260	FGFR1	HP:0100842	Septo-optic dysplasia
2260	FGFR1	HP:0008734	Decreased testicular size
2260	FGFR1	HP:0008736	Hypoplasia of penis
2260	FGFR1	HP:0008724	Hypoplasia of the ovary
2260	FGFR1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
2260	FGFR1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2260	FGFR1	HP:0006009	Broad phalanx
2260	FGFR1	HP:0002540	Inability to walk
2260	FGFR1	HP:0002539	Cortical dysplasia
2260	FGFR1	HP:0002514	Cerebral calcification
2260	FGFR1	HP:0003829	Typified by incomplete penetrance
2260	FGFR1	HP:0002507	Semilobar holoprosencephaly
2260	FGFR1	HP:0012062	Bone cyst
2260	FGFR1	HP:0000062	Ambiguous genitalia
2260	FGFR1	HP:0000044	Hypogonadotropic hypogonadism
2260	FGFR1	HP:0000040	Long penis
2260	FGFR1	HP:0001371	Flexion contracture
2260	FGFR1	HP:0000041	Chordee
2260	FGFR1	HP:0012032	Lipoma
2260	FGFR1	HP:0000054	Micropenis
2260	FGFR1	HP:0000047	Hypospadias
2260	FGFR1	HP:0000023	Inguinal hernia
2260	FGFR1	HP:0002676	Cloverleaf skull
2260	FGFR1	HP:0001363	Craniosynostosis
2260	FGFR1	HP:0001360	Holoprosencephaly
2260	FGFR1	HP:0000026	Male hypogonadism
2260	FGFR1	HP:0000028	Cryptorchidism
2260	FGFR1	HP:0000027	Azoospermia
2260	FGFR1	HP:0007546	Linear hyperpigmentation
2260	FGFR1	HP:0001331	Absent septum pellucidum
2260	FGFR1	HP:0000002	Abnormality of body height
2260	FGFR1	HP:0001328	Specific learning disability
2260	FGFR1	HP:0002659	Increased susceptibility to fractures
2260	FGFR1	HP:0001324	Muscle weakness
2260	FGFR1	HP:0000013	Hypoplasia of the uterus
2260	FGFR1	HP:0001344	Absent speech
2260	FGFR1	HP:0000008	Abnormal morphology of female internal genitalia
2260	FGFR1	HP:0001335	Bimanual synkinesia
2260	FGFR1	HP:0001337	Tremor
2260	FGFR1	HP:0000006	Autosomal dominant inheritance
2260	FGFR1	HP:0001305	Dandy-Walker malformation
2260	FGFR1	HP:0002652	Skeletal dysplasia
2260	FGFR1	HP:0002650	Scoliosis
2260	FGFR1	HP:0001321	Cerebellar hypoplasia
2260	FGFR1	HP:0001319	Neonatal hypotonia
2260	FGFR1	HP:0032466	Aplasia of the olfactory bulb
2260	FGFR1	HP:0008905	Rhizomelia
2260	FGFR1	HP:0000193	Bifid uvula
2260	FGFR1	HP:0000164	Abnormality of the dentition
2260	FGFR1	HP:0000161	Median cleft lip
2260	FGFR1	HP:0012157	Subcortical cerebral atrophy
2260	FGFR1	HP:0000175	Cleft palate
2260	FGFR1	HP:0000144	Decreased fertility
2260	FGFR1	HP:0002797	Osteolysis
2260	FGFR1	HP:0001482	Subcutaneous nodule
2260	FGFR1	HP:0006342	Peg-shaped maxillary lateral incisors
2260	FGFR1	HP:0006344	Abnormality of primary molar morphology
2260	FGFR1	HP:0007676	Hypoplasia of the iris
2260	FGFR1	HP:0006336	Short dental root
2260	FGFR1	HP:0006315	Solitary median maxillary central incisor
2260	FGFR1	HP:0008947	Infantile muscular hypotonia
2260	FGFR1	HP:0002705	High, narrow palate
2260	FGFR1	HP:0006297	Enamel hypoplasia
2260	FGFR1	HP:0006283	Multiple unerupted teeth
2260	FGFR1	HP:0006289	Agenesis of central incisor
2260	FGFR1	HP:0002780	Bronchomalacia
2260	FGFR1	HP:0000118	Phenotypic abnormality
2260	FGFR1	HP:0000119	Abnormality of the genitourinary system
2260	FGFR1	HP:0000134	Female hypogonadism
2260	FGFR1	HP:0002793	Abnormal pattern of respiration
2260	FGFR1	HP:0000125	Pelvic kidney
2260	FGFR1	HP:0000126	Hydronephrosis
2260	FGFR1	HP:0002763	Abnormal cartilage morphology
2260	FGFR1	HP:0002761	Generalized joint laxity
2260	FGFR1	HP:0002757	Recurrent fractures
2260	FGFR1	HP:0001428	Somatic mutation
2260	FGFR1	HP:0001442	Somatic mosaicism
2260	FGFR1	HP:0000104	Renal agenesis
2260	FGFR1	HP:0002750	Delayed skeletal maturation
2260	FGFR1	HP:0002020	Gastroesophageal reflux
2260	FGFR1	HP:0002019	Constipation
2260	FGFR1	HP:0002032	Esophageal atresia
2260	FGFR1	HP:0002033	Poor suck
2260	FGFR1	HP:0004691	2-3 toe syndactyly
2260	FGFR1	HP:0002015	Dysphagia
2260	FGFR1	HP:0002013	Vomiting
2260	FGFR1	HP:0040327	Abnormal morphology of the olfactory bulb
2260	FGFR1	HP:0002007	Frontal bossing
2260	FGFR1	HP:0003312	Abnormal form of the vertebral bodies
2260	FGFR1	HP:0005968	Temperature instability
2260	FGFR1	HP:0011800	Midface retrusion
2260	FGFR1	HP:0002084	Encephalocele
2260	FGFR1	HP:0002098	Respiratory distress
2260	FGFR1	HP:0002099	Asthma
2260	FGFR1	HP:0002092	Pulmonary arterial hypertension
2260	FGFR1	HP:0002093	Respiratory insufficiency
2260	FGFR1	HP:0002069	Bilateral tonic-clonic seizure
2260	FGFR1	HP:0002063	Rigidity
2260	FGFR1	HP:0002079	Hypoplasia of the corpus callosum
2260	FGFR1	HP:0002059	Cerebral atrophy
2260	FGFR1	HP:0008122	Calcaneonavicular fusion
2260	FGFR1	HP:0008197	Absence of pubertal development
2260	FGFR1	HP:0008187	Absence of secondary sex characteristics
2260	FGFR1	HP:0011787	Central hypothyroidism
2260	FGFR1	HP:0003470	Paralysis
2260	FGFR1	HP:0002120	Cerebral cortical atrophy
2260	FGFR1	HP:0002119	Ventriculomegaly
2260	FGFR1	HP:0002132	Porencephalic cyst
2260	FGFR1	HP:0003458	EMG: myopathic abnormalities
2260	FGFR1	HP:0009601	Aplasia/Hypoplasia of the thumb
2260	FGFR1	HP:0002167	Abnormality of speech or vocalization
2260	FGFR1	HP:0010550	Paraplegia
2260	FGFR1	HP:0010529	Echolalia
2260	FGFR1	HP:0008213	Gonadotropin deficiency
2260	FGFR1	HP:0011849	Abnormal bone ossification
2260	FGFR1	HP:0034587	Nevus psiloliparus
2260	FGFR1	HP:0009592	Astrocytoma
2260	FGFR1	HP:0002270	Abnormality of the autonomic nervous system
2260	FGFR1	HP:0002245	Meckel diverticulum
2260	FGFR1	HP:0003577	Congenital onset
2260	FGFR1	HP:0100704	Cerebral visual impairment
2260	FGFR1	HP:0100702	Arachnoid cyst
2260	FGFR1	HP:0002247	Duodenal atresia
2260	FGFR1	HP:0003552	Muscle stiffness
2260	FGFR1	HP:0002231	Sparse body hair
2260	FGFR1	HP:0100761	Visceral angiomatosis
2260	FGFR1	HP:0010654	Aplasia of the falx cerebri
2260	FGFR1	HP:0007018	Attention deficit hyperactivity disorder
2260	FGFR1	HP:0010644	Midnasal stenosis
2260	FGFR1	HP:0011968	Feeding difficulties
2260	FGFR1	HP:0011961	Non-obstructive azoospermia
2260	FGFR1	HP:0010627	Anterior pituitary hypoplasia
2260	FGFR1	HP:0011951	Aspiration pneumonia
2260	FGFR1	HP:0010622	Neoplasm of the skeletal system
2260	FGFR1	HP:0003510	Severe short stature
2260	FGFR1	HP:0001052	Nevus flammeus
2260	FGFR1	HP:0002381	Aphasia
2260	FGFR1	HP:0002363	Abnormal brainstem morphology
2260	FGFR1	HP:0002360	Sleep disturbance
2260	FGFR1	HP:0001031	Subcutaneous lipoma
2260	FGFR1	HP:0001028	Hemangioma
2260	FGFR1	HP:0001012	Multiple lipomas
2260	FGFR1	HP:0008527	Congenital sensorineural hearing impairment
2260	FGFR1	HP:0009826	Limb undergrowth
2260	FGFR1	HP:0010804	Tented upper lip vermilion
2260	FGFR1	HP:0009804	Tooth agenesis
2260	FGFR1	HP:0009800	Maternal diabetes
2260	FGFR1	HP:0009803	Short phalanx of finger
2260	FGFR1	HP:0100639	Erectile dysfunction
2260	FGFR1	HP:0010743	Short metatarsal
2260	FGFR1	HP:0008439	Lumbar hemivertebrae
2260	FGFR1	HP:0002300	Mutism
2260	FGFR1	HP:0002301	Hemiplegia
2260	FGFR1	HP:0002308	Chiari malformation
2260	FGFR1	HP:0004969	Peripheral pulmonary artery stenosis
2260	FGFR1	HP:0006870	Lobar holoprosencephaly
2260	FGFR1	HP:0031860	Abnormal heart rate variability
2260	FGFR1	HP:0010086	Broad proximal phalanx of the hallux
2260	FGFR1	HP:0010068	Broad first metatarsal
2260	FGFR1	HP:0010077	Broad distal phalanx of the hallux
2260	FGFR1	HP:0010059	Broad hallux phalanx
2260	FGFR1	HP:0004279	Short palm
2260	FGFR1	HP:0000639	Nystagmus
2260	FGFR1	HP:0000647	Sclerocornea
2260	FGFR1	HP:0000612	Iris coloboma
2260	FGFR1	HP:0000614	Abnormal nasolacrimal system morphology
2260	FGFR1	HP:0001959	Polydipsia
2260	FGFR1	HP:0000625	Eyelid coloboma
2260	FGFR1	HP:0000609	Optic nerve hypoplasia
2260	FGFR1	HP:0000601	Hypotelorism
2260	FGFR1	HP:0010049	Short metacarpal
2260	FGFR1	HP:0009062	Infantile axial hypotonia
2260	FGFR1	HP:0010055	Broad hallux
2260	FGFR1	HP:0000696	Delayed eruption of permanent teeth
2260	FGFR1	HP:0000684	Delayed eruption of teeth
2260	FGFR1	HP:0000679	Taurodontia
2260	FGFR1	HP:0000678	Dental crowding
2260	FGFR1	HP:0000677	Oligodontia
2260	FGFR1	HP:0000691	Microdontia
2260	FGFR1	HP:0000690	Agenesis of maxillary lateral incisor
2260	FGFR1	HP:0011330	Metopic synostosis
2260	FGFR1	HP:0000689	Dental malocclusion
2260	FGFR1	HP:0000685	Hypoplasia of teeth
2260	FGFR1	HP:0000687	Widely spaced teeth
2260	FGFR1	HP:0011318	Bicoronal synostosis
2260	FGFR1	HP:0011304	Broad thumb
2260	FGFR1	HP:0000664	Synophrys
2260	FGFR1	HP:0006988	Alobar holoprosencephaly
2260	FGFR1	HP:0004322	Short stature
2260	FGFR1	HP:0006979	Sleep-wake cycle disturbance
2260	FGFR1	HP:0030680	Abnormality of cardiovascular system morphology
2260	FGFR1	HP:0003070	Elbow ankylosis
2260	FGFR1	HP:0000802	Impotence
2260	FGFR1	HP:0004374	Hemiplegia/hemiparesis
2260	FGFR1	HP:0003041	Humeroradial synostosis
2260	FGFR1	HP:0004349	Reduced bone mineral density
2260	FGFR1	HP:0000771	Gynecomastia
2260	FGFR1	HP:0000737	Irritability
2260	FGFR1	HP:0000739	Anxiety
2260	FGFR1	HP:0000750	Delayed speech and language development
2260	FGFR1	HP:0012718	Morphological abnormality of the gastrointestinal tract
2260	FGFR1	HP:0000741	Apathy
2260	FGFR1	HP:0000716	Depression
2260	FGFR1	HP:0000717	Autism
2260	FGFR1	HP:0000708	Atypical behavior
2260	FGFR1	HP:0000706	Eruption failure
2260	FGFR1	HP:0011471	Gastrostomy tube feeding in infancy
2260	FGFR1	HP:0010109	Short hallux
2260	FGFR1	HP:0010105	Short first metatarsal
2260	FGFR1	HP:0011442	Abnormal central motor function
2260	FGFR1	HP:0009125	Lipodystrophy
2260	FGFR1	HP:0012759	Neurodevelopmental abnormality
2260	FGFR1	HP:0000786	Primary amenorrhea
2260	FGFR1	HP:0004440	Coronal craniosynostosis
2260	FGFR1	HP:0004409	Hyposmia
2260	FGFR1	HP:0003196	Short nose
2260	FGFR1	HP:0000929	Abnormal skull morphology
2260	FGFR1	HP:0000924	Abnormality of the skeletal system
2260	FGFR1	HP:0000926	Platyspondyly
2260	FGFR1	HP:0003187	Breast hypoplasia
2260	FGFR1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
2260	FGFR1	HP:0004493	Craniofacial hyperostosis
2260	FGFR1	HP:0000882	Hypoplastic scapulae
2260	FGFR1	HP:0000873	Diabetes insipidus
2260	FGFR1	HP:0000889	Abnormal clavicle morphology
2260	FGFR1	HP:0000871	Panhypopituitarism
2260	FGFR1	HP:0000869	Secondary amenorrhea
2260	FGFR1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2260	FGFR1	HP:0000830	Anterior hypopituitarism
2260	FGFR1	HP:0100335	Non-midline cleft lip
2260	FGFR1	HP:0012806	Proboscis
2260	FGFR1	HP:0000818	Abnormality of the endocrine system
2260	FGFR1	HP:0000821	Hypothyroidism
2260	FGFR1	HP:0000824	Decreased response to growth hormone stimulation test
2260	FGFR1	HP:0000823	Delayed puberty
2260	FGFR1	HP:0040064	Abnormality of limbs
2260	FGFR1	HP:0003228	Hypernatremia
2260	FGFR1	HP:0005864	Pseudoarthrosis
2260	FGFR1	HP:0100251	Multiple central nervous system lipomas
2260	FGFR1	HP:0100257	Ectrodactyly
2260	FGFR1	HP:0000991	Xanthomatosis
2260	FGFR1	HP:0011611	Interrupted aortic arch
2260	FGFR1	HP:0000958	Dry skin
2260	FGFR1	HP:0000966	Hypohidrosis
2260	FGFR1	HP:0000939	Osteoporosis
2260	FGFR1	HP:0045005	Neural tube defect
2260	FGFR1	HP:0000938	Osteopenia
2260	FGFR1	HP:0000943	Dysostosis multiplex
2260	FGFR1	HP:0008080	Hallux varus
2260	FGFR1	HP:0040171	Decreased serum testosterone concentration
2260	FGFR1	HP:0008064	Ichthyosis
2260	FGFR1	HP:0040188	Osteochondrosis
2260	FGFR1	HP:0012285	Abnormal hypothalamus physiology
2260	FGFR1	HP:0000286	Epicanthus
2260	FGFR1	HP:0001596	Alopecia
2260	FGFR1	HP:0000256	Macrocephaly
2260	FGFR1	HP:0000271	Abnormality of the face
2260	FGFR1	HP:0000272	Malar flattening
2260	FGFR1	HP:0002827	Hip dislocation
2260	FGFR1	HP:0030084	Clinodactyly
2260	FGFR1	HP:0000244	Brachyturricephaly
2260	FGFR1	HP:0000243	Trigonocephaly
2260	FGFR1	HP:0000238	Hydrocephalus
2260	FGFR1	HP:0000252	Microcephaly
2260	FGFR1	HP:0000248	Brachycephaly
2260	FGFR1	HP:0000218	High palate
2260	FGFR1	HP:0030016	Dyspareunia
2260	FGFR1	HP:0001531	Failure to thrive in infancy
2260	FGFR1	HP:0030019	Increased female libido
2260	FGFR1	HP:0002871	Central apnea
2260	FGFR1	HP:0001539	Omphalocele
2260	FGFR1	HP:0000202	Orofacial cleft
2260	FGFR1	HP:0000204	Cleft upper lip
2260	FGFR1	HP:0001508	Failure to thrive
2260	FGFR1	HP:0001511	Intrauterine growth retardation
2260	FGFR1	HP:0001510	Growth delay
2260	FGFR1	HP:0001513	Obesity
2260	FGFR1	HP:0006501	Aplasia/Hypoplasia of the radius
2260	FGFR1	HP:0011078	Abnormality of canine
2260	FGFR1	HP:0012378	Fatigue
2260	FGFR1	HP:0011053	Agenesis of mandibular premolar
2260	FGFR1	HP:0012385	Camptodactyly
2260	FGFR1	HP:0011051	Agenesis of premolar
2260	FGFR1	HP:0011056	Agenesis of first permanent molar tooth
2260	FGFR1	HP:0000384	Preauricular skin tag
2260	FGFR1	HP:0005216	Impaired mastication
2260	FGFR1	HP:0006528	Chronic lung disease
2260	FGFR1	HP:0001608	Abnormality of the voice
2260	FGFR1	HP:0006482	Abnormality of dental morphology
2260	FGFR1	HP:0006487	Bowing of the long bones
2260	FGFR1	HP:0000365	Hearing impairment
2260	FGFR1	HP:0000358	Posteriorly rotated ears
2260	FGFR1	HP:0000369	Low-set ears
2260	FGFR1	HP:0000368	Low-set, posteriorly rotated ears
2260	FGFR1	HP:0000343	Long philtrum
2260	FGFR1	HP:0000336	Prominent supraorbital ridges
2260	FGFR1	HP:0001682	Subvalvular aortic stenosis
2260	FGFR1	HP:0001680	Coarctation of aorta
2260	FGFR1	HP:0001679	Abnormal aortic morphology
2260	FGFR1	HP:0000348	High forehead
2260	FGFR1	HP:0000347	Micrognathia
2260	FGFR1	HP:0001650	Aortic valve stenosis
2260	FGFR1	HP:0000316	Hypertelorism
2260	FGFR1	HP:0000327	Hypoplasia of the maxilla
2260	FGFR1	HP:0000322	Short philtrum
2260	FGFR1	HP:0001629	Ventricular septal defect
2260	FGFR1	HP:0001627	Abnormal heart morphology
2260	FGFR1	HP:0001622	Premature birth
2260	FGFR1	HP:0001636	Tetralogy of Fallot
2260	FGFR1	HP:0001631	Atrial septal defect
2260	FGFR1	HP:0000303	Mandibular prognathia
2260	FGFR1	HP:0007957	Corneal opacity
2260	FGFR1	HP:0006610	Wide intermamillary distance
2260	FGFR1	HP:0000499	Abnormal eyelash morphology
2260	FGFR1	HP:0005347	Tracheal cartilaginous sleeve
2260	FGFR1	HP:0005306	Capillary hemangioma
2260	FGFR1	HP:0001739	Abnormal nasopharynx morphology
2260	FGFR1	HP:0000407	Sensorineural hearing impairment
2260	FGFR1	HP:0001704	Tricuspid valve prolapse
2260	FGFR1	HP:0005280	Depressed nasal bridge
2260	FGFR1	HP:0000486	Strabismus
2260	FGFR1	HP:0012472	Eclabion
2260	FGFR1	HP:0000478	Abnormality of the eye
2260	FGFR1	HP:0000494	Downslanted palpebral fissures
2260	FGFR1	HP:0000492	Abnormal eyelid morphology
2260	FGFR1	HP:0000488	Retinopathy
2260	FGFR1	HP:0000463	Anteverted nares
2260	FGFR1	HP:0000458	Anosmia
2260	FGFR1	HP:0000457	Depressed nasal ridge
2260	FGFR1	HP:0000470	Short neck
2260	FGFR1	HP:0001770	Toe syndactyly
2260	FGFR1	HP:0001773	Short foot
2260	FGFR1	HP:0001769	Broad foot
2260	FGFR1	HP:0001763	Pes planus
2260	FGFR1	HP:0000453	Choanal atresia
2260	FGFR1	HP:0001783	Broad metatarsal
2260	FGFR1	HP:0000452	Choanal stenosis
2260	FGFR1	HP:0000446	Narrow nasal bridge
2260	FGFR1	HP:0000445	Wide nose
2260	FGFR1	HP:0001742	Nasal congestion
2260	FGFR1	HP:0000411	Protruding ear
2260	FGFR1	HP:0000431	Wide nasal bridge
2260	FGFR1	HP:0001761	Pes cavus
2260	FGFR1	HP:0005466	Hypoplasia of the frontal bone
2260	FGFR1	HP:0000520	Proptosis
2260	FGFR1	HP:0000506	Telecanthus
2260	FGFR1	HP:0000508	Ptosis
2260	FGFR1	HP:0000505	Visual impairment
2260	FGFR1	HP:0001800	Hypoplastic toenails
2260	FGFR1	HP:0000582	Upslanted palpebral fissure
2260	FGFR1	HP:0000586	Shallow orbits
2260	FGFR1	HP:0011219	Short face
2260	FGFR1	HP:0011220	Prominent forehead
2260	FGFR1	HP:0000568	Microphthalmia
2260	FGFR1	HP:0000551	Color vision defect
2261	FGFR3	HP:0001172	Abnormal thumb morphology
2261	FGFR3	HP:0001171	Split hand
2261	FGFR3	HP:0001156	Brachydactyly
2261	FGFR3	HP:0001166	Arachnodactyly
2261	FGFR3	HP:0001159	Syndactyly
2261	FGFR3	HP:0003795	Short middle phalanx of toe
2261	FGFR3	HP:0009942	Duplication of thumb phalanx
2261	FGFR3	HP:0009926	Epiphora
2261	FGFR3	HP:0001199	Triphalangeal thumb
2261	FGFR3	HP:0008572	External ear malformation
2261	FGFR3	HP:0009891	Underdeveloped supraorbital ridges
2261	FGFR3	HP:0010880	Increased nuchal translucency
2261	FGFR3	HP:0009899	Prominent crus of helix
2261	FGFR3	HP:0010864	Intellectual disability, severe
2261	FGFR3	HP:0008551	Microtia
2261	FGFR3	HP:0003745	Sporadic
2261	FGFR3	HP:0001270	Motor delay
2261	FGFR3	HP:0001250	Seizure
2261	FGFR3	HP:0001252	Hypotonia
2261	FGFR3	HP:0001249	Intellectual disability
2261	FGFR3	HP:0001263	Global developmental delay
2261	FGFR3	HP:0001241	Capitate-hamate fusion
2261	FGFR3	HP:0006101	Finger syndactyly
2261	FGFR3	HP:0100864	Short femoral neck
2261	FGFR3	HP:0007392	Excessive wrinkled skin
2261	FGFR3	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2261	FGFR3	HP:0002516	Increased intracranial pressure
2261	FGFR3	HP:0002512	Brain stem compression
2261	FGFR3	HP:0003811	Neonatal death
2261	FGFR3	HP:0000089	Renal hypoplasia
2261	FGFR3	HP:0000098	Tall stature
2261	FGFR3	HP:0000077	Abnormality of the kidney
2261	FGFR3	HP:0000076	Vesicoureteral reflux
2261	FGFR3	HP:0001377	Limited elbow extension
2261	FGFR3	HP:0001376	Limitation of joint mobility
2261	FGFR3	HP:0001369	Arthritis
2261	FGFR3	HP:0001387	Joint stiffness
2261	FGFR3	HP:0001355	Megalencephaly
2261	FGFR3	HP:0000020	Urinary incontinence
2261	FGFR3	HP:0002676	Cloverleaf skull
2261	FGFR3	HP:0002677	Small foramen magnum
2261	FGFR3	HP:0001363	Craniosynostosis
2261	FGFR3	HP:0001360	Holoprosencephaly
2261	FGFR3	HP:0001357	Plagiocephaly
2261	FGFR3	HP:0000028	Cryptorchidism
2261	FGFR3	HP:0000027	Azoospermia
2261	FGFR3	HP:0008873	Disproportionate short-limb short stature
2261	FGFR3	HP:0007517	Palmoplantar cutis laxa
2261	FGFR3	HP:0008839	Hypoplastic pelvis
2261	FGFR3	HP:0012081	Enlarged cerebellum
2261	FGFR3	HP:0006193	Thimble-shaped middle phalanges of hand
2261	FGFR3	HP:0002664	Neoplasm
2261	FGFR3	HP:0000002	Abnormality of body height
2261	FGFR3	HP:0000007	Autosomal recessive inheritance
2261	FGFR3	HP:0000006	Autosomal dominant inheritance
2261	FGFR3	HP:0002652	Skeletal dysplasia
2261	FGFR3	HP:0002650	Scoliosis
2261	FGFR3	HP:0002643	Neonatal respiratory distress
2261	FGFR3	HP:0002644	Abnormal pelvic girdle bone morphology
2261	FGFR3	HP:0002607	Bowel incontinence
2261	FGFR3	HP:0008921	Neonatal short-limb short stature
2261	FGFR3	HP:0000189	Narrow palate
2261	FGFR3	HP:0008905	Rhizomelia
2261	FGFR3	HP:0008909	Lethal short-limbed short stature
2261	FGFR3	HP:0000193	Bifid uvula
2261	FGFR3	HP:0000164	Abnormality of the dentition
2261	FGFR3	HP:0012155	Decreased corneal sensation
2261	FGFR3	HP:0000175	Cleft palate
2261	FGFR3	HP:0000174	Abnormal palate morphology
2261	FGFR3	HP:0007656	Lacrimal gland aplasia
2261	FGFR3	HP:0008947	Infantile muscular hypotonia
2261	FGFR3	HP:0002705	High, narrow palate
2261	FGFR3	HP:0006297	Enamel hypoplasia
2261	FGFR3	HP:0007598	Bilateral single transverse palmar creases
2261	FGFR3	HP:0006254	Elevated circulating alpha-fetoprotein concentration
2261	FGFR3	HP:0002781	Upper airway obstruction
2261	FGFR3	HP:0012108	Open angle glaucoma
2261	FGFR3	HP:0000131	Uterine leiomyoma
2261	FGFR3	HP:0000126	Hydronephrosis
2261	FGFR3	HP:0002761	Generalized joint laxity
2261	FGFR3	HP:0002758	Osteoarthritis
2261	FGFR3	HP:0001428	Somatic mutation
2261	FGFR3	HP:0001442	Somatic mosaicism
2261	FGFR3	HP:0032569	Temporal bossing
2261	FGFR3	HP:0002020	Gastroesophageal reflux
2261	FGFR3	HP:0002015	Dysphagia
2261	FGFR3	HP:0002007	Frontal bossing
2261	FGFR3	HP:0003312	Abnormal form of the vertebral bodies
2261	FGFR3	HP:0003307	Hyperlordosis
2261	FGFR3	HP:0011800	Midface retrusion
2261	FGFR3	HP:0100533	Inflammatory abnormality of the eye
2261	FGFR3	HP:0002089	Pulmonary hypoplasia
2261	FGFR3	HP:0002084	Encephalocele
2261	FGFR3	HP:0100543	Cognitive impairment
2261	FGFR3	HP:0002098	Respiratory distress
2261	FGFR3	HP:0030928	1-minute APGAR score of 1
2261	FGFR3	HP:0002092	Pulmonary arterial hypertension
2261	FGFR3	HP:0002093	Respiratory insufficiency
2261	FGFR3	HP:0002091	Restrictive ventilatory defect
2261	FGFR3	HP:0030921	5-minute APGAR score of 1
2261	FGFR3	HP:0002079	Hypoplasia of the corpus callosum
2261	FGFR3	HP:0002076	Migraine
2261	FGFR3	HP:0003375	Narrow greater sciatic notch
2261	FGFR3	HP:0009466	Radial deviation of finger
2261	FGFR3	HP:0005916	Abnormal metacarpal morphology
2261	FGFR3	HP:0002119	Ventriculomegaly
2261	FGFR3	HP:0003416	Spinal canal stenosis
2261	FGFR3	HP:0010609	Skin tags
2261	FGFR3	HP:0002187	Intellectual disability, profound
2261	FGFR3	HP:0002197	Generalized-onset seizure
2261	FGFR3	HP:0003498	Disproportionate short stature
2261	FGFR3	HP:0002164	Nail dysplasia
2261	FGFR3	HP:0100490	Camptodactyly of finger
2261	FGFR3	HP:0100491	Abnormality of lower limb joint
2261	FGFR3	HP:0011867	Abnormal iliac wing morphology
2261	FGFR3	HP:0010536	Central sleep apnea
2261	FGFR3	HP:0010535	Sleep apnea
2261	FGFR3	HP:0010502	Fibular bowing
2261	FGFR3	HP:0010579	Cone-shaped epiphysis
2261	FGFR3	HP:0002269	Abnormality of neuronal migration
2261	FGFR3	HP:0003577	Congenital onset
2261	FGFR3	HP:0009738	Abnormal antihelix morphology
2261	FGFR3	HP:0010720	Abnormal hair pattern
2261	FGFR3	HP:0100768	Choriocarcinoma
2261	FGFR3	HP:0008414	Lumbar kyphosis in infancy
2261	FGFR3	HP:0100781	Abnormal sacroiliac joint morphology
2261	FGFR3	HP:0100777	Exostoses
2261	FGFR3	HP:0009725	Bladder neoplasm
2261	FGFR3	HP:0009702	Carpal synostosis
2261	FGFR3	HP:0009701	Metacarpal synostosis
2261	FGFR3	HP:0002282	Gray matter heterotopia
2261	FGFR3	HP:0008368	Tarsal synostosis
2261	FGFR3	HP:0007018	Attention deficit hyperactivity disorder
2261	FGFR3	HP:0011968	Feeding difficulties
2261	FGFR3	HP:0003510	Severe short stature
2261	FGFR3	HP:0002384	Focal impaired awareness seizure
2261	FGFR3	HP:0001054	Numerous nevi
2261	FGFR3	HP:0001053	Hypopigmented skin patches
2261	FGFR3	HP:0001034	Hypermelanotic macule
2261	FGFR3	HP:0002342	Intellectual disability, moderate
2261	FGFR3	HP:0009826	Limb undergrowth
2261	FGFR3	HP:0009815	Aplasia/hypoplasia of the extremities
2261	FGFR3	HP:0001096	Keratoconjunctivitis
2261	FGFR3	HP:0010807	Open bite
2261	FGFR3	HP:0001097	Keratoconjunctivitis sicca
2261	FGFR3	HP:0001092	Absent lacrimal punctum
2261	FGFR3	HP:0009811	Abnormality of the elbow
2261	FGFR3	HP:0009792	Teratoma
2261	FGFR3	HP:0008450	Narrow vertebral interpedicular distance
2261	FGFR3	HP:0009777	Absent thumb
2261	FGFR3	HP:0008445	Cervical spinal canal stenosis
2261	FGFR3	HP:0009778	Short thumb
2261	FGFR3	HP:0002308	Chiari malformation
2261	FGFR3	HP:0003621	Juvenile onset
2261	FGFR3	HP:0032107	Limbal stem cell deficiency
2261	FGFR3	HP:0004209	Clinodactyly of the 5th finger
2261	FGFR3	HP:0005599	Hypopigmentation of hair
2261	FGFR3	HP:0004279	Short palm
2261	FGFR3	HP:0005584	Renal cell carcinoma
2261	FGFR3	HP:0000646	Amblyopia
2261	FGFR3	HP:0000648	Optic atrophy
2261	FGFR3	HP:0000643	Blepharospasm
2261	FGFR3	HP:0000601	Hypotelorism
2261	FGFR3	HP:0011386	Narrow internal auditory canal
2261	FGFR3	HP:0010055	Broad hallux
2261	FGFR3	HP:0012679	Widened interpedicular distance
2261	FGFR3	HP:0011344	Severe global developmental delay
2261	FGFR3	HP:0000682	Abnormal dental enamel morphology
2261	FGFR3	HP:0000691	Microdontia
2261	FGFR3	HP:0000689	Dental malocclusion
2261	FGFR3	HP:0000670	Carious teeth
2261	FGFR3	HP:0011304	Broad thumb
2261	FGFR3	HP:0000668	Hypodontia
2261	FGFR3	HP:0001999	Abnormal facial shape
2261	FGFR3	HP:0004322	Short stature
2261	FGFR3	HP:0005619	Thoracolumbar kyphosis
2261	FGFR3	HP:0030680	Abnormality of cardiovascular system morphology
2261	FGFR3	HP:0003031	Ulnar bowing
2261	FGFR3	HP:0005692	Joint hyperflexibility
2261	FGFR3	HP:0003015	Flared metaphysis
2261	FGFR3	HP:0003026	Short long bone
2261	FGFR3	HP:0003027	Mesomelia
2261	FGFR3	HP:0003025	Metaphyseal irregularity
2261	FGFR3	HP:0011405	Childhood onset short-limb short stature
2261	FGFR3	HP:0000767	Pectus excavatum
2261	FGFR3	HP:0011487	Increased corneal thickness
2261	FGFR3	HP:0011496	Corneal neovascularization
2261	FGFR3	HP:0011482	Abnormal lacrimal gland morphology
2261	FGFR3	HP:0011481	Abnormal lacrimal duct morphology
2261	FGFR3	HP:0011452	Functional abnormality of the middle ear
2261	FGFR3	HP:0000774	Narrow chest
2261	FGFR3	HP:0000773	Short ribs
2261	FGFR3	HP:0009118	Aplasia/Hypoplasia of the mandible
2261	FGFR3	HP:0004440	Coronal craniosynostosis
2261	FGFR3	HP:0005733	Spinal stenosis with reduced interpedicular distance
2261	FGFR3	HP:0003194	Short nasal bridge
2261	FGFR3	HP:0000910	Wide-cupped costochondral junctions
2261	FGFR3	HP:0000929	Abnormal skull morphology
2261	FGFR3	HP:0000926	Platyspondyly
2261	FGFR3	HP:0003185	Short greater sciatic notch
2261	FGFR3	HP:0003180	Flat acetabular roof
2261	FGFR3	HP:0000889	Abnormal clavicle morphology
2261	FGFR3	HP:0000858	Irregular menstruation
2261	FGFR3	HP:0034226	Champagne cork sign
2261	FGFR3	HP:0012804	Corneal ulceration
2261	FGFR3	HP:0003097	Short femur
2261	FGFR3	HP:0003093	Limited hip extension
2261	FGFR3	HP:0000813	Bicornuate uterus
2261	FGFR3	HP:0010286	Abnormal salivary gland morphology
2261	FGFR3	HP:0010241	Short proximal phalanx of finger
2261	FGFR3	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
2261	FGFR3	HP:0004565	Severe platyspondyly
2261	FGFR3	HP:0004570	Increased vertebral height
2261	FGFR3	HP:0005871	Metaphyseal chondrodysplasia
2261	FGFR3	HP:0045087	Hip joint hypermobility
2261	FGFR3	HP:0045086	Knee joint hypermobility
2261	FGFR3	HP:0000995	Melanocytic nevus
2261	FGFR3	HP:0010306	Short thorax
2261	FGFR3	HP:0000956	Acanthosis nigricans
2261	FGFR3	HP:0000946	Hypoplastic ilia
2261	FGFR3	HP:0000944	Abnormal metaphysis morphology
2261	FGFR3	HP:0005819	Short middle phalanx of finger
2261	FGFR3	HP:0000286	Epicanthus
2261	FGFR3	HP:0000294	Low anterior hairline
2261	FGFR3	HP:0000260	Wide anterior fontanel
2261	FGFR3	HP:0000262	Turricephaly
2261	FGFR3	HP:0000256	Macrocephaly
2261	FGFR3	HP:0000274	Small face
2261	FGFR3	HP:0000270	Delayed cranial suture closure
2261	FGFR3	HP:0000272	Malar flattening
2261	FGFR3	HP:0005107	Abnormal sacrum morphology
2261	FGFR3	HP:0006417	Broad femoral metaphyses
2261	FGFR3	HP:0002823	Abnormality of femur morphology
2261	FGFR3	HP:0030079	Cervix cancer
2261	FGFR3	HP:0030084	Clinodactyly
2261	FGFR3	HP:0002808	Kyphosis
2261	FGFR3	HP:0005037	Proximal radio-ulnar synostosis
2261	FGFR3	HP:0000242	Parietal bossing
2261	FGFR3	HP:0000238	Hydrocephalus
2261	FGFR3	HP:0002898	Embryonal neoplasm
2261	FGFR3	HP:0000252	Microcephaly
2261	FGFR3	HP:0001582	Redundant skin
2261	FGFR3	HP:0000248	Brachycephaly
2261	FGFR3	HP:0000217	Xerostomia
2261	FGFR3	HP:0002878	Respiratory failure
2261	FGFR3	HP:0000218	High palate
2261	FGFR3	HP:0001561	Polyhydramnios
2261	FGFR3	HP:0002891	Uterine leiomyosarcoma
2261	FGFR3	HP:0001558	Decreased fetal movement
2261	FGFR3	HP:0001522	Death in infancy
2261	FGFR3	HP:0002870	Obstructive sleep apnea
2261	FGFR3	HP:0002871	Central apnea
2261	FGFR3	HP:0001538	Protuberant abdomen
2261	FGFR3	HP:0000202	Orofacial cleft
2261	FGFR3	HP:0030049	Brain abscess
2261	FGFR3	HP:0001513	Obesity
2261	FGFR3	HP:0012385	Camptodactyly
2261	FGFR3	HP:0012368	Flat face
2261	FGFR3	HP:0000378	Cupped ear
2261	FGFR3	HP:0000377	Abnormal pinna morphology
2261	FGFR3	HP:0005257	Thoracic hypoplasia
2261	FGFR3	HP:0006584	Small abnormally formed scapulae
2261	FGFR3	HP:0007892	Hypoplasia of the lacrimal punctum
2261	FGFR3	HP:0002938	Lumbar hyperlordosis
2261	FGFR3	HP:0006487	Bowing of the long bones
2261	FGFR3	HP:0000365	Hearing impairment
2261	FGFR3	HP:0011003	High myopia
2261	FGFR3	HP:0000369	Low-set ears
2261	FGFR3	HP:0000337	Broad forehead
2261	FGFR3	HP:0000348	High forehead
2261	FGFR3	HP:0000347	Micrognathia
2261	FGFR3	HP:0002982	Tibial bowing
2261	FGFR3	HP:0002983	Micromelia
2261	FGFR3	HP:0002980	Femoral bowing
2261	FGFR3	HP:0002979	Bowing of the legs
2261	FGFR3	HP:0000316	Hypertelorism
2261	FGFR3	HP:0001643	Patent ductus arteriosus
2261	FGFR3	HP:0000327	Hypoplasia of the maxilla
2261	FGFR3	HP:0002986	Radial bowing
2261	FGFR3	HP:0002984	Hypoplasia of the radius
2261	FGFR3	HP:0000324	Facial asymmetry
2261	FGFR3	HP:0001623	Breech presentation
2261	FGFR3	HP:0002970	Genu varum
2261	FGFR3	HP:0000309	Abnormal midface morphology
2261	FGFR3	HP:0001635	Congestive heart failure
2261	FGFR3	HP:0001631	Atrial septal defect
2261	FGFR3	HP:0007925	Lacrimal duct aplasia
2261	FGFR3	HP:0005349	Hypoplasia of the epiglottis
2261	FGFR3	HP:0000407	Sensorineural hearing impairment
2261	FGFR3	HP:0000403	Recurrent otitis media
2261	FGFR3	HP:0000405	Conductive hearing impairment
2261	FGFR3	HP:0005280	Depressed nasal bridge
2261	FGFR3	HP:0000486	Strabismus
2261	FGFR3	HP:0000478	Abnormality of the eye
2261	FGFR3	HP:0000495	Recurrent corneal erosions
2261	FGFR3	HP:0000494	Downslanted palpebral fissures
2261	FGFR3	HP:0000463	Anteverted nares
2261	FGFR3	HP:0012444	Brain atrophy
2261	FGFR3	HP:0000458	Anosmia
2261	FGFR3	HP:0001788	Premature rupture of membranes
2261	FGFR3	HP:0000470	Short neck
2261	FGFR3	HP:0001770	Toe syndactyly
2261	FGFR3	HP:0001773	Short foot
2261	FGFR3	HP:0000453	Choanal atresia
2261	FGFR3	HP:0000452	Choanal stenosis
2261	FGFR3	HP:0012418	Hypoxemia
2261	FGFR3	HP:0000444	Convex nasal ridge
2261	FGFR3	HP:0000410	Mixed hearing impairment
2261	FGFR3	HP:0000426	Prominent nasal bridge
2261	FGFR3	HP:0006753	Neoplasm of the stomach
2261	FGFR3	HP:0006740	Transitional cell carcinoma of the bladder
2261	FGFR3	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
2261	FGFR3	HP:0006703	Aplasia/Hypoplasia of the lungs
2261	FGFR3	HP:0011297	Abnormal digit morphology
2261	FGFR3	HP:0030431	Osteochondroma
2261	FGFR3	HP:0000520	Proptosis
2261	FGFR3	HP:0001822	Hallux valgus
2261	FGFR3	HP:0000508	Ptosis
2261	FGFR3	HP:0001836	Camptodactyly of toe
2261	FGFR3	HP:0000505	Visual impairment
2261	FGFR3	HP:0001831	Short toe
2261	FGFR3	HP:0004060	Trident hand
2261	FGFR3	HP:0000577	Exotropia
2261	FGFR3	HP:0011220	Prominent forehead
2263	FGFR2	HP:0001177	Preaxial hand polydactyly
2263	FGFR2	HP:0001172	Abnormal thumb morphology
2263	FGFR2	HP:0001156	Brachydactyly
2263	FGFR2	HP:0001166	Arachnodactyly
2263	FGFR2	HP:0001162	Postaxial hand polydactyly
2263	FGFR2	HP:0001159	Syndactyly
2263	FGFR2	HP:0003795	Short middle phalanx of toe
2263	FGFR2	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger
2263	FGFR2	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger
2263	FGFR2	HP:0009942	Duplication of thumb phalanx
2263	FGFR2	HP:0009944	Partial duplication of thumb phalanx
2263	FGFR2	HP:0009926	Epiphora
2263	FGFR2	HP:0001199	Triphalangeal thumb
2263	FGFR2	HP:0009906	Aplasia/Hypoplasia of the earlobes
2263	FGFR2	HP:0008572	External ear malformation
2263	FGFR2	HP:0009891	Underdeveloped supraorbital ridges
2263	FGFR2	HP:0009899	Prominent crus of helix
2263	FGFR2	HP:0008551	Microtia
2263	FGFR2	HP:0002410	Aqueductal stenosis
2263	FGFR2	HP:0007291	Posterior fossa cyst
2263	FGFR2	HP:0001274	Agenesis of corpus callosum
2263	FGFR2	HP:0001256	Intellectual disability, mild
2263	FGFR2	HP:0001250	Seizure
2263	FGFR2	HP:0001249	Intellectual disability
2263	FGFR2	HP:0001263	Global developmental delay
2263	FGFR2	HP:0001233	2-3 finger syndactyly
2263	FGFR2	HP:0001245	Small thenar eminence
2263	FGFR2	HP:0002566	Intestinal malrotation
2263	FGFR2	HP:0006110	Shortening of all middle phalanges of the fingers
2263	FGFR2	HP:0006101	Finger syndactyly
2263	FGFR2	HP:0008743	Coronal hypospadias
2263	FGFR2	HP:0100876	Infra-orbital crease
2263	FGFR2	HP:0007343	Abnormal morphology of the limbic system
2263	FGFR2	HP:0008665	Clitoral hypertrophy
2263	FGFR2	HP:0002516	Increased intracranial pressure
2263	FGFR2	HP:0003828	Variable expressivity
2263	FGFR2	HP:0000089	Renal hypoplasia
2263	FGFR2	HP:0000085	Horseshoe kidney
2263	FGFR2	HP:0000063	Fused labia minora
2263	FGFR2	HP:0000059	Hypoplastic labia majora
2263	FGFR2	HP:0000076	Vesicoureteral reflux
2263	FGFR2	HP:0001377	Limited elbow extension
2263	FGFR2	HP:0001376	Limitation of joint mobility
2263	FGFR2	HP:0001371	Flexion contracture
2263	FGFR2	HP:0001369	Arthritis
2263	FGFR2	HP:0000048	Bifid scrotum
2263	FGFR2	HP:0000047	Hypospadias
2263	FGFR2	HP:0001355	Megalencephaly
2263	FGFR2	HP:0002678	Skull asymmetry
2263	FGFR2	HP:0002676	Cloverleaf skull
2263	FGFR2	HP:0002697	Parietal foramina
2263	FGFR2	HP:0001363	Craniosynostosis
2263	FGFR2	HP:0001357	Plagiocephaly
2263	FGFR2	HP:0000028	Cryptorchidism
2263	FGFR2	HP:0008872	Feeding difficulties in infancy
2263	FGFR2	HP:0007517	Palmoplantar cutis laxa
2263	FGFR2	HP:0007469	Palmoplantar cutis gyrata
2263	FGFR2	HP:0002663	Delayed epiphyseal ossification
2263	FGFR2	HP:0001331	Absent septum pellucidum
2263	FGFR2	HP:0000006	Autosomal dominant inheritance
2263	FGFR2	HP:0002650	Scoliosis
2263	FGFR2	HP:0001321	Cerebellar hypoplasia
2263	FGFR2	HP:0003974	Absent radius
2263	FGFR2	HP:0002644	Abnormal pelvic girdle bone morphology
2263	FGFR2	HP:0002623	Overriding aorta
2263	FGFR2	HP:0000189	Narrow palate
2263	FGFR2	HP:0000198	Absence of Stensen duct
2263	FGFR2	HP:0000193	Bifid uvula
2263	FGFR2	HP:0000164	Abnormality of the dentition
2263	FGFR2	HP:0000160	Narrow mouth
2263	FGFR2	HP:0012155	Decreased corneal sensation
2263	FGFR2	HP:0000175	Cleft palate
2263	FGFR2	HP:0000174	Abnormal palate morphology
2263	FGFR2	HP:0012126	Stomach cancer
2263	FGFR2	HP:0001482	Subcutaneous nodule
2263	FGFR2	HP:0000148	Vaginal atresia
2263	FGFR2	HP:0410067	Increased level of L-fucose in urine
2263	FGFR2	HP:0007656	Lacrimal gland aplasia
2263	FGFR2	HP:0007642	Congenital stationary night blindness
2263	FGFR2	HP:0006297	Enamel hypoplasia
2263	FGFR2	HP:0007598	Bilateral single transverse palmar creases
2263	FGFR2	HP:0002780	Bronchomalacia
2263	FGFR2	HP:0002781	Upper airway obstruction
2263	FGFR2	HP:0012108	Open angle glaucoma
2263	FGFR2	HP:0002779	Tracheomalacia
2263	FGFR2	HP:0000126	Hydronephrosis
2263	FGFR2	HP:0001428	Somatic mutation
2263	FGFR2	HP:0001433	Hepatosplenomegaly
2263	FGFR2	HP:0000104	Renal agenesis
2263	FGFR2	HP:0002023	Anal atresia
2263	FGFR2	HP:0002021	Pyloric stenosis
2263	FGFR2	HP:0002032	Esophageal atresia
2263	FGFR2	HP:0004691	2-3 toe syndactyly
2263	FGFR2	HP:0005989	Redundant neck skin
2263	FGFR2	HP:0002015	Dysphagia
2263	FGFR2	HP:0002007	Frontal bossing
2263	FGFR2	HP:0003312	Abnormal form of the vertebral bodies
2263	FGFR2	HP:0003307	Hyperlordosis
2263	FGFR2	HP:0004635	Cervical C5/C6 vertebrae fusion
2263	FGFR2	HP:0003319	Abnormality of the cervical spine
2263	FGFR2	HP:0011800	Midface retrusion
2263	FGFR2	HP:0002098	Respiratory distress
2263	FGFR2	HP:0002093	Respiratory insufficiency
2263	FGFR2	HP:0002076	Migraine
2263	FGFR2	HP:0009462	Radial deviation of the 3rd finger
2263	FGFR2	HP:0008122	Calcaneonavicular fusion
2263	FGFR2	HP:0008111	Broad distal hallux
2263	FGFR2	HP:0100583	Corneal perforation
2263	FGFR2	HP:0010455	Steep acetabular roof
2263	FGFR2	HP:0002119	Ventriculomegaly
2263	FGFR2	HP:0003422	Vertebral segmentation defect
2263	FGFR2	HP:0010609	Skin tags
2263	FGFR2	HP:0009601	Aplasia/Hypoplasia of the thumb
2263	FGFR2	HP:0009603	Deviation of the thumb
2263	FGFR2	HP:0002164	Nail dysplasia
2263	FGFR2	HP:0010554	Cutaneous finger syndactyly
2263	FGFR2	HP:0010541	Cutis gyrata of scalp
2263	FGFR2	HP:0010535	Sleep apnea
2263	FGFR2	HP:0034530	Bent long bone
2263	FGFR2	HP:0003577	Congenital onset
2263	FGFR2	HP:0100702	Arachnoid cyst
2263	FGFR2	HP:0009738	Abnormal antihelix morphology
2263	FGFR2	HP:0010720	Abnormal hair pattern
2263	FGFR2	HP:0009740	Aplasia of the parotid gland
2263	FGFR2	HP:0009741	Nephrosclerosis
2263	FGFR2	HP:0100761	Visceral angiomatosis
2263	FGFR2	HP:0010669	Hypoplasia of the zygomatic bone
2263	FGFR2	HP:0009642	Broad distal phalanx of the thumb
2263	FGFR2	HP:0009637	Absent proximal phalanx of thumb
2263	FGFR2	HP:0007099	Chiari type I malformation
2263	FGFR2	HP:0020049	Exodeviation
2263	FGFR2	HP:0001053	Hypopigmented skin patches
2263	FGFR2	HP:0001061	Acne
2263	FGFR2	HP:0002342	Intellectual disability, moderate
2263	FGFR2	HP:0001007	Hirsutism
2263	FGFR2	HP:0002315	Headache
2263	FGFR2	HP:0004991	Rhizomelic arm shortening
2263	FGFR2	HP:0200020	Corneal erosion
2263	FGFR2	HP:0001096	Keratoconjunctivitis
2263	FGFR2	HP:0010807	Open bite
2263	FGFR2	HP:0001097	Keratoconjunctivitis sicca
2263	FGFR2	HP:0001092	Absent lacrimal punctum
2263	FGFR2	HP:0001090	Abnormally large globe
2263	FGFR2	HP:0009804	Tooth agenesis
2263	FGFR2	HP:0100615	Ovarian neoplasm
2263	FGFR2	HP:0100621	Dysgerminoma
2263	FGFR2	HP:0200055	Small hand
2263	FGFR2	HP:0009773	Symphalangism affecting the phalanges of the hand
2263	FGFR2	HP:0009777	Absent thumb
2263	FGFR2	HP:0009778	Short thumb
2263	FGFR2	HP:0010743	Short metatarsal
2263	FGFR2	HP:0002308	Chiari malformation
2263	FGFR2	HP:0032107	Limbal stem cell deficiency
2263	FGFR2	HP:0004209	Clinodactyly of the 5th finger
2263	FGFR2	HP:0010086	Broad proximal phalanx of the hallux
2263	FGFR2	HP:0010068	Broad first metatarsal
2263	FGFR2	HP:0010077	Broad distal phalanx of the hallux
2263	FGFR2	HP:0010059	Broad hallux phalanx
2263	FGFR2	HP:0004279	Short palm
2263	FGFR2	HP:0000646	Amblyopia
2263	FGFR2	HP:0000648	Optic atrophy
2263	FGFR2	HP:0001978	Extramedullary hematopoiesis
2263	FGFR2	HP:0000643	Blepharospasm
2263	FGFR2	HP:0000612	Iris coloboma
2263	FGFR2	HP:0000614	Abnormal nasolacrimal system morphology
2263	FGFR2	HP:0000629	Periorbital fullness
2263	FGFR2	HP:0000620	Dacryocystitis
2263	FGFR2	HP:0000601	Hypotelorism
2263	FGFR2	HP:0011380	Morphological abnormality of the semicircular canal
2263	FGFR2	HP:0011386	Narrow internal auditory canal
2263	FGFR2	HP:0010055	Broad hallux
2263	FGFR2	HP:0000682	Abnormal dental enamel morphology
2263	FGFR2	HP:0000684	Delayed eruption of teeth
2263	FGFR2	HP:0000680	Delayed eruption of primary teeth
2263	FGFR2	HP:0000678	Dental crowding
2263	FGFR2	HP:0000695	Natal tooth
2263	FGFR2	HP:0000691	Microdontia
2263	FGFR2	HP:0011324	Multiple suture craniosynostosis
2263	FGFR2	HP:0011323	Cleft of chin
2263	FGFR2	HP:0000689	Dental malocclusion
2263	FGFR2	HP:0011318	Bicoronal synostosis
2263	FGFR2	HP:0000670	Carious teeth
2263	FGFR2	HP:0011304	Broad thumb
2263	FGFR2	HP:0000668	Hypodontia
2263	FGFR2	HP:0001999	Abnormal facial shape
2263	FGFR2	HP:0004322	Short stature
2263	FGFR2	HP:0003002	Breast carcinoma
2263	FGFR2	HP:0030680	Abnormality of cardiovascular system morphology
2263	FGFR2	HP:0003070	Elbow ankylosis
2263	FGFR2	HP:0004397	Ectopic anus
2263	FGFR2	HP:0003031	Ulnar bowing
2263	FGFR2	HP:0003041	Humeroradial synostosis
2263	FGFR2	HP:0003022	Hypoplasia of the ulna
2263	FGFR2	HP:0000768	Pectus carinatum
2263	FGFR2	HP:0012725	Cutaneous syndactyly
2263	FGFR2	HP:0011487	Increased corneal thickness
2263	FGFR2	HP:0011496	Corneal neovascularization
2263	FGFR2	HP:0011482	Abnormal lacrimal gland morphology
2263	FGFR2	HP:0011481	Abnormal lacrimal duct morphology
2263	FGFR2	HP:0010109	Short hallux
2263	FGFR2	HP:0010104	Absent first metatarsal
2263	FGFR2	HP:0010105	Short first metatarsal
2263	FGFR2	HP:0000774	Narrow chest
2263	FGFR2	HP:0004443	Lambdoidal craniosynostosis
2263	FGFR2	HP:0004442	Sagittal craniosynostosis
2263	FGFR2	HP:0004440	Coronal craniosynostosis
2263	FGFR2	HP:0004439	Craniofacial dysostosis
2263	FGFR2	HP:0004453	Overfolding of the superior helices
2263	FGFR2	HP:0004450	Preauricular skin furrow
2263	FGFR2	HP:0004425	Flat forehead
2263	FGFR2	HP:0004411	Deviated nasal septum
2263	FGFR2	HP:0005707	Bilateral triphalangeal thumbs
2263	FGFR2	HP:0003196	Short nose
2263	FGFR2	HP:0000929	Abnormal skull morphology
2263	FGFR2	HP:0003175	Hypoplastic ischia
2263	FGFR2	HP:0003173	Hypoplastic pubic bone
2263	FGFR2	HP:0003189	Long nose
2263	FGFR2	HP:0004487	Acrobrachycephaly
2263	FGFR2	HP:0004468	Anomalous tracheal cartilage
2263	FGFR2	HP:0004467	Preauricular pit
2263	FGFR2	HP:0012804	Corneal ulceration
2263	FGFR2	HP:0000813	Bicornuate uterus
2263	FGFR2	HP:0000822	Hypertension
2263	FGFR2	HP:0010286	Abnormal salivary gland morphology
2263	FGFR2	HP:0000894	Short clavicles
2263	FGFR2	HP:0003246	Prominent scrotal raphe
2263	FGFR2	HP:0003275	Narrow pelvis bone
2263	FGFR2	HP:0000995	Melanocytic nevus
2263	FGFR2	HP:0100258	Preaxial polydactyly
2263	FGFR2	HP:0000975	Hyperhidrosis
2263	FGFR2	HP:0000974	Hyperextensible skin
2263	FGFR2	HP:0000982	Palmoplantar keratoderma
2263	FGFR2	HP:0000956	Acanthosis nigricans
2263	FGFR2	HP:0034361	Redundant umbilical skin
2263	FGFR2	HP:0000938	Osteopenia
2263	FGFR2	HP:0008080	Hallux varus
2263	FGFR2	HP:0000286	Epicanthus
2263	FGFR2	HP:0000294	Low anterior hairline
2263	FGFR2	HP:0000263	Oxycephaly
2263	FGFR2	HP:0001597	Abnormality of the nail
2263	FGFR2	HP:0001591	Bell-shaped thorax
2263	FGFR2	HP:0000260	Wide anterior fontanel
2263	FGFR2	HP:0000262	Turricephaly
2263	FGFR2	HP:0000256	Macrocephaly
2263	FGFR2	HP:0000271	Abnormality of the face
2263	FGFR2	HP:0000270	Delayed cranial suture closure
2263	FGFR2	HP:0000272	Malar flattening
2263	FGFR2	HP:0000268	Dolichocephaly
2263	FGFR2	HP:0005107	Abnormal sacrum morphology
2263	FGFR2	HP:0007732	Lacrimal gland hypoplasia
2263	FGFR2	HP:0002814	Abnormality of the lower limb
2263	FGFR2	HP:0030084	Clinodactyly
2263	FGFR2	HP:0005037	Proximal radio-ulnar synostosis
2263	FGFR2	HP:0005048	Synostosis of carpal bones
2263	FGFR2	HP:0000244	Brachyturricephaly
2263	FGFR2	HP:0000243	Trigonocephaly
2263	FGFR2	HP:0000239	Large fontanelles
2263	FGFR2	HP:0000238	Hydrocephalus
2263	FGFR2	HP:0000248	Brachycephaly
2263	FGFR2	HP:0012210	Abnormal renal morphology
2263	FGFR2	HP:0000217	Xerostomia
2263	FGFR2	HP:0000218	High palate
2263	FGFR2	HP:0000212	Gingival overgrowth
2263	FGFR2	HP:0001545	Anteriorly placed anus
2263	FGFR2	HP:0001537	Umbilical hernia
2263	FGFR2	HP:0000202	Orofacial cleft
2263	FGFR2	HP:0001507	Growth abnormality
2263	FGFR2	HP:0030042	Incomplete ossification of pubis
2263	FGFR2	HP:0011065	Conical incisor
2263	FGFR2	HP:0012385	Camptodactyly
2263	FGFR2	HP:0012368	Flat face
2263	FGFR2	HP:0000378	Cupped ear
2263	FGFR2	HP:0000377	Abnormal pinna morphology
2263	FGFR2	HP:0000391	Thickened helices
2263	FGFR2	HP:0000389	Chronic otitis media
2263	FGFR2	HP:0007892	Hypoplasia of the lacrimal punctum
2263	FGFR2	HP:0001601	Laryngomalacia
2263	FGFR2	HP:0000365	Hearing impairment
2263	FGFR2	HP:0000364	Hearing abnormality
2263	FGFR2	HP:0000356	Abnormality of the outer ear
2263	FGFR2	HP:0000358	Posteriorly rotated ears
2263	FGFR2	HP:0000369	Low-set ears
2263	FGFR2	HP:0000343	Long philtrum
2263	FGFR2	HP:0000337	Broad forehead
2263	FGFR2	HP:0002996	Limited elbow movement
2263	FGFR2	HP:0000348	High forehead
2263	FGFR2	HP:0000347	Micrognathia
2263	FGFR2	HP:0002983	Micromelia
2263	FGFR2	HP:0002980	Femoral bowing
2263	FGFR2	HP:0002979	Bowing of the legs
2263	FGFR2	HP:0000316	Hypertelorism
2263	FGFR2	HP:0001643	Patent ductus arteriosus
2263	FGFR2	HP:0002974	Radioulnar synostosis
2263	FGFR2	HP:0002991	Abnormality of fibula morphology
2263	FGFR2	HP:0000327	Hypoplasia of the maxilla
2263	FGFR2	HP:0002984	Hypoplasia of the radius
2263	FGFR2	HP:0000324	Facial asymmetry
2263	FGFR2	HP:0001629	Ventricular septal defect
2263	FGFR2	HP:0001627	Abnormal heart morphology
2263	FGFR2	HP:0001631	Atrial septal defect
2263	FGFR2	HP:0000303	Mandibular prognathia
2263	FGFR2	HP:0007925	Lacrimal duct aplasia
2263	FGFR2	HP:0030313	Abnormal periosteum morphology
2263	FGFR2	HP:0007900	Hypoplastic lacrimal duct
2263	FGFR2	HP:0005349	Hypoplasia of the epiglottis
2263	FGFR2	HP:0005347	Tracheal cartilaginous sleeve
2263	FGFR2	HP:0000407	Sensorineural hearing impairment
2263	FGFR2	HP:0000405	Conductive hearing impairment
2263	FGFR2	HP:0000400	Macrotia
2263	FGFR2	HP:0000402	Stenosis of the external auditory canal
2263	FGFR2	HP:0001732	Abnormality of the pancreas
2263	FGFR2	HP:0005280	Depressed nasal bridge
2263	FGFR2	HP:0000486	Strabismus
2263	FGFR2	HP:0000485	Megalocornea
2263	FGFR2	HP:0000478	Abnormality of the eye
2263	FGFR2	HP:0000495	Recurrent corneal erosions
2263	FGFR2	HP:0000494	Downslanted palpebral fissures
2263	FGFR2	HP:0000491	Keratitis
2263	FGFR2	HP:0001792	Small nail
2263	FGFR2	HP:0000463	Anteverted nares
2263	FGFR2	HP:0000460	Narrow nose
2263	FGFR2	HP:0000458	Anosmia
2263	FGFR2	HP:0001770	Toe syndactyly
2263	FGFR2	HP:0001773	Short foot
2263	FGFR2	HP:0000453	Choanal atresia
2263	FGFR2	HP:0001783	Broad metatarsal
2263	FGFR2	HP:0000452	Choanal stenosis
2263	FGFR2	HP:0000444	Convex nasal ridge
2263	FGFR2	HP:0000410	Mixed hearing impairment
2263	FGFR2	HP:0000413	Atresia of the external auditory canal
2263	FGFR2	HP:0000426	Prominent nasal bridge
2263	FGFR2	HP:0011297	Abnormal digit morphology
2263	FGFR2	HP:0005474	Decreased calvarial ossification
2263	FGFR2	HP:0005469	Flat occiput
2263	FGFR2	HP:0001845	Overlapping toe
2263	FGFR2	HP:0001841	Preaxial foot polydactyly
2263	FGFR2	HP:0000520	Proptosis
2263	FGFR2	HP:0000522	Alacrima
2263	FGFR2	HP:0001822	Hallux valgus
2263	FGFR2	HP:0001838	Rocker bottom foot
2263	FGFR2	HP:0000506	Telecanthus
2263	FGFR2	HP:0000509	Conjunctivitis
2263	FGFR2	HP:0001839	Split foot
2263	FGFR2	HP:0000508	Ptosis
2263	FGFR2	HP:0000505	Visual impairment
2263	FGFR2	HP:0000504	Abnormality of vision
2263	FGFR2	HP:0001804	Hypoplastic fingernail
2263	FGFR2	HP:0000582	Upslanted palpebral fissure
2263	FGFR2	HP:0000579	Nasolacrimal duct obstruction
2263	FGFR2	HP:0000577	Exotropia
2263	FGFR2	HP:0011223	Metopic depression
2263	FGFR2	HP:0000586	Shallow orbits
2263	FGFR2	HP:0011220	Prominent forehead
2263	FGFR2	HP:0000557	Buphthalmos
2263	FGFR2	HP:0000572	Visual loss
2263	FGFR2	HP:0000545	Myopia
2266	FGG	HP:0003819	Death in childhood
2266	FGG	HP:0003811	Neonatal death
2266	FGG	HP:0001386	Joint swelling
2266	FGG	HP:0001342	Cerebral hemorrhage
2266	FGG	HP:0000007	Autosomal recessive inheritance
2266	FGG	HP:0006298	Prolonged bleeding after dental extraction
2266	FGG	HP:0011900	Hypofibrinogenemia
2266	FGG	HP:0011884	Abnormal umbilical stump bleeding
2266	FGG	HP:0003593	Infantile onset
2266	FGG	HP:0003577	Congenital onset
2266	FGG	HP:0002239	Gastrointestinal hemorrhage
2266	FGG	HP:0002248	Hematemesis
2266	FGG	HP:0004936	Venous thrombosis
2266	FGG	HP:0001934	Persistent bleeding after trauma
2266	FGG	HP:0400008	Menometrorrhagia
2266	FGG	HP:0011463	Childhood onset
2266	FGG	HP:0011421	Death in adolescence
2266	FGG	HP:0100310	Epidural hemorrhage
2266	FGG	HP:0034287	Afibrinogenemia
2266	FGG	HP:0100309	Subdural hemorrhage
2266	FGG	HP:0000978	Bruising susceptibility
2266	FGG	HP:0012223	Splenic rupture
2266	FGG	HP:0000225	Gingival bleeding
2266	FGG	HP:0001522	Death in infancy
2266	FGG	HP:0005268	Miscarriage
2266	FGG	HP:0030137	Prolonged bleeding following circumcision
2266	FGG	HP:0000421	Epistaxis
2266	FGG	HP:0001892	Abnormal bleeding
2271	FH	HP:0100954	Open operculum
2271	FH	HP:0008629	Pulsatile tinnitus
2271	FH	HP:0003758	Reduced subcutaneous adipose tissue
2271	FH	HP:0025269	Panic attack
2271	FH	HP:0001293	Cranial nerve compression
2271	FH	HP:0001290	Generalized hypotonia
2271	FH	HP:0001274	Agenesis of corpus callosum
2271	FH	HP:0001252	Hypotonia
2271	FH	HP:0001263	Global developmental delay
2271	FH	HP:0002574	Episodic abdominal pain
2271	FH	HP:0007437	Multiple cutaneous leiomyomas
2271	FH	HP:0003829	Typified by incomplete penetrance
2271	FH	HP:0000096	Glomerular sclerosis
2271	FH	HP:0000093	Proteinuria
2271	FH	HP:0001396	Cholestasis
2271	FH	HP:0001399	Hepatic failure
2271	FH	HP:0001342	Cerebral hemorrhage
2271	FH	HP:0000007	Autosomal recessive inheritance
2271	FH	HP:0002668	Paraganglioma
2271	FH	HP:0001337	Tremor
2271	FH	HP:0000006	Autosomal dominant inheritance
2271	FH	HP:0002640	Hypertension associated with pheochromocytoma
2271	FH	HP:0007620	Cutaneous leiomyoma
2271	FH	HP:0031284	Flushing
2271	FH	HP:0000131	Uterine leiomyoma
2271	FH	HP:0003355	Aminoaciduria
2271	FH	HP:0002018	Nausea
2271	FH	HP:0003345	Elevated urinary norepinephrine
2271	FH	HP:0002007	Frontal bossing
2271	FH	HP:0002059	Cerebral atrophy
2271	FH	HP:0100580	Barrett esophagus
2271	FH	HP:0011703	Sinus tachycardia
2271	FH	HP:0002133	Status epilepticus
2271	FH	HP:0002126	Polymicrogyria
2271	FH	HP:0002187	Intellectual disability, profound
2271	FH	HP:0002190	Choroid plexus cyst
2271	FH	HP:0010532	Paroxysmal vertigo
2271	FH	HP:0003574	Positive regitine blocking test
2271	FH	HP:0003528	Elevated calcitonin
2271	FH	HP:0003536	Decreased fumarate hydratase activity
2271	FH	HP:0009711	Retinal capillary hemangioma
2271	FH	HP:0100751	Esophageal neoplasm
2271	FH	HP:0100749	Chest pain
2271	FH	HP:0011979	Elevated urinary dopamine
2271	FH	HP:0001069	Episodic hyperhidrosis
2271	FH	HP:0002365	Hypoplasia of the brainstem
2271	FH	HP:0002331	Recurrent paroxysmal headache
2271	FH	HP:0100650	Vaginal neoplasm
2271	FH	HP:0001095	Hypertensive retinopathy
2271	FH	HP:0003639	Elevated urinary epinephrine
2271	FH	HP:0005584	Renal cell carcinoma
2271	FH	HP:0001962	Palpitations
2271	FH	HP:0000648	Optic atrophy
2271	FH	HP:0001942	Metabolic acidosis
2271	FH	HP:0001901	Polycythemia
2271	FH	HP:0003072	Hypercalcemia
2271	FH	HP:0003011	Abnormality of the musculature
2271	FH	HP:0000740	Episodic paroxysmal anxiety
2271	FH	HP:0000790	Hematuria
2271	FH	HP:0004482	Relative macrocephaly
2271	FH	HP:0003128	Lactic acidosis
2271	FH	HP:0000980	Pallor
2271	FH	HP:0000989	Pruritus
2271	FH	HP:0000252	Microcephaly
2271	FH	HP:0012222	Arachnoid hemangiomatosis
2271	FH	HP:0000218	High palate
2271	FH	HP:0002891	Uterine leiomyosarcoma
2271	FH	HP:0002864	Paraganglioma of head and neck
2271	FH	HP:0001508	Failure to thrive
2271	FH	HP:0012378	Fatigue
2271	FH	HP:0001605	Vocal cord paralysis
2271	FH	HP:0001618	Dysphonia
2271	FH	HP:0002904	Hyperbilirubinemia
2271	FH	HP:0000316	Hypertelorism
2271	FH	HP:0001635	Congestive heart failure
2271	FH	HP:0000405	Conductive hearing impairment
2271	FH	HP:0005280	Depressed nasal bridge
2271	FH	HP:0000463	Anteverted nares
2271	FH	HP:0006748	Adrenal pheochromocytoma
2271	FH	HP:0006755	Cutaneous leiomyosarcoma
2271	FH	HP:0006737	Extraadrenal pheochromocytoma
2271	FH	HP:0006732	Papillary renal cell carcinoma type 2
2271	FH	HP:0000518	Cataract
2271	FH	HP:0000526	Aniridia
2271	FH	HP:0001824	Weight loss
2271	FH	HP:0000505	Visual impairment
2273	FHL1	HP:0001169	Broad palm
2273	FHL1	HP:0002486	Myotonia
2273	FHL1	HP:0002421	Poor head control
2273	FHL1	HP:0003704	Scapuloperoneal weakness
2273	FHL1	HP:0003701	Proximal muscle weakness
2273	FHL1	HP:0003715	Myofibrillar myopathy
2273	FHL1	HP:0003712	Skeletal muscle hypertrophy
2273	FHL1	HP:0001288	Gait disturbance
2273	FHL1	HP:0001284	Areflexia
2273	FHL1	HP:0001252	Hypotonia
2273	FHL1	HP:0001249	Intellectual disability
2273	FHL1	HP:0001265	Hyporeflexia
2273	FHL1	HP:0007340	Lower limb muscle weakness
2273	FHL1	HP:0002515	Waddling gait
2273	FHL1	HP:0002505	Loss of ambulation
2273	FHL1	HP:0003805	Rimmed vacuoles
2273	FHL1	HP:0001374	Congenital hip dislocation
2273	FHL1	HP:0001371	Flexion contracture
2273	FHL1	HP:0001387	Joint stiffness
2273	FHL1	HP:0002650	Scoliosis
2273	FHL1	HP:0001315	Reduced tendon reflexes
2273	FHL1	HP:0008994	Proximal muscle weakness in lower limbs
2273	FHL1	HP:0008997	Proximal muscle weakness in upper limbs
2273	FHL1	HP:0008948	Proximal upper limb amyotrophy
2273	FHL1	HP:0008956	Proximal lower limb amyotrophy
2273	FHL1	HP:0001423	X-linked dominant inheritance
2273	FHL1	HP:0001419	X-linked recessive inheritance
2273	FHL1	HP:0001417	X-linked inheritance
2273	FHL1	HP:0002747	Respiratory insufficiency due to muscle weakness
2273	FHL1	HP:0005991	Limited neck flexion
2273	FHL1	HP:0003307	Hyperlordosis
2273	FHL1	HP:0003306	Spinal rigidity
2273	FHL1	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
2273	FHL1	HP:0011807	Type 1 muscle fiber atrophy
2273	FHL1	HP:0002093	Respiratory insufficiency
2273	FHL1	HP:0003376	Steppage gait
2273	FHL1	HP:0011712	Right bundle branch block
2273	FHL1	HP:0008141	Dislocation of toes
2273	FHL1	HP:0009473	Joint contracture of the hand
2273	FHL1	HP:0002155	Hypertriglyceridemia
2273	FHL1	HP:0003458	EMG: myopathic abnormalities
2273	FHL1	HP:0003418	Back pain
2273	FHL1	HP:0003596	Middle age onset
2273	FHL1	HP:0003557	Increased variability in muscle fiber diameter
2273	FHL1	HP:0003691	Scapular winging
2273	FHL1	HP:0002359	Frequent falls
2273	FHL1	HP:0003676	Progressive
2273	FHL1	HP:0002355	Difficulty walking
2273	FHL1	HP:0003678	Rapidly progressive
2273	FHL1	HP:0003621	Juvenile onset
2273	FHL1	HP:0009054	Scapuloperoneal myopathy
2273	FHL1	HP:0009046	Difficulty running
2273	FHL1	HP:0009027	Foot dorsiflexor weakness
2273	FHL1	HP:0000664	Synophrys
2273	FHL1	HP:0003089	Hamstring contractures
2273	FHL1	HP:0000767	Pectus excavatum
2273	FHL1	HP:0011463	Childhood onset
2273	FHL1	HP:0011462	Young adult onset
2273	FHL1	HP:0009125	Lipodystrophy
2273	FHL1	HP:0011421	Death in adolescence
2273	FHL1	HP:0003198	Myopathy
2273	FHL1	HP:0000912	Sprengel anomaly
2273	FHL1	HP:0003141	Increased LDL cholesterol concentration
2273	FHL1	HP:0003236	Elevated circulating creatine kinase concentration
2273	FHL1	HP:0003202	Skeletal muscle atrophy
2273	FHL1	HP:0034394	Forearm supination contracture
2273	FHL1	HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies
2273	FHL1	HP:0008075	Progressive pes cavus
2273	FHL1	HP:0008064	Ichthyosis
2273	FHL1	HP:0011675	Arrhythmia
2273	FHL1	HP:0000278	Retrognathia
2273	FHL1	HP:0005115	Supraventricular arrhythmia
2273	FHL1	HP:0002808	Kyphosis
2273	FHL1	HP:0006380	Knee flexion contracture
2273	FHL1	HP:0000244	Brachyturricephaly
2273	FHL1	HP:0002878	Respiratory failure
2273	FHL1	HP:0000232	Everted lower lip vermilion
2273	FHL1	HP:0030051	Tip-toe gait
2273	FHL1	HP:0001513	Obesity
2273	FHL1	HP:0001608	Abnormality of the voice
2273	FHL1	HP:0001605	Vocal cord paralysis
2273	FHL1	HP:0005155	Ventricular escape rhythm
2273	FHL1	HP:0000358	Posteriorly rotated ears
2273	FHL1	HP:0000369	Low-set ears
2273	FHL1	HP:0030117	Absent muscle fiber emerin
2273	FHL1	HP:0000339	Pugilistic facies
2273	FHL1	HP:0000336	Prominent supraorbital ridges
2273	FHL1	HP:0002996	Limited elbow movement
2273	FHL1	HP:0001678	Atrioventricular block
2273	FHL1	HP:0001645	Sudden cardiac death
2273	FHL1	HP:0001644	Dilated cardiomyopathy
2273	FHL1	HP:0002987	Elbow flexion contracture
2273	FHL1	HP:0001653	Mitral regurgitation
2273	FHL1	HP:0001639	Hypertrophic cardiomyopathy
2273	FHL1	HP:0001638	Cardiomyopathy
2273	FHL1	HP:0001714	Ventricular hypertrophy
2273	FHL1	HP:0000494	Downslanted palpebral fissures
2273	FHL1	HP:0000470	Short neck
2273	FHL1	HP:0001771	Achilles tendon contracture
2273	FHL1	HP:0000448	Prominent nose
2273	FHL1	HP:0000445	Wide nose
2273	FHL1	HP:0001761	Pes cavus
2273	FHL1	HP:0006785	Limb-girdle muscular dystrophy
2273	FHL1	HP:0001822	Hallux valgus
2273	FHL1	HP:0001821	Broad nail
2273	FHL1	HP:0000508	Ptosis
2273	FHL1	HP:0001836	Camptodactyly of toe
2274	FHL2	HP:0100578	Lipoatrophy
2274	FHL2	HP:0003457	EMG abnormality
2274	FHL2	HP:0003198	Myopathy
2274	FHL2	HP:0003236	Elevated circulating creatine kinase concentration
2274	FHL2	HP:0000982	Palmoplantar keratoderma
2274	FHL2	HP:0001644	Dilated cardiomyopathy
2274	FHL2	HP:0000407	Sensorineural hearing impairment
2274	FHL2	HP:0001874	Abnormality of neutrophils
2289	FKBP5	HP:0010982	Polygenic inheritance
2289	FKBP5	HP:0000716	Depression
2290	FOXG1	HP:0003781	Excessive salivation
2290	FOXG1	HP:0010864	Intellectual disability, severe
2290	FOXG1	HP:0009879	Simplified gyral pattern
2290	FOXG1	HP:0003745	Sporadic
2290	FOXG1	HP:0003763	Bruxism
2290	FOXG1	HP:0001290	Generalized hypotonia
2290	FOXG1	HP:0001274	Agenesis of corpus callosum
2290	FOXG1	HP:0001270	Motor delay
2290	FOXG1	HP:0001250	Seizure
2290	FOXG1	HP:0001252	Hypotonia
2290	FOXG1	HP:0001263	Global developmental delay
2290	FOXG1	HP:0001257	Spasticity
2290	FOXG1	HP:0025336	Delayed ability to sit
2290	FOXG1	HP:0001332	Dystonia
2290	FOXG1	HP:0001344	Absent speech
2290	FOXG1	HP:0000006	Autosomal dominant inheritance
2290	FOXG1	HP:0001302	Pachygyria
2290	FOXG1	HP:0002650	Scoliosis
2290	FOXG1	HP:0001319	Neonatal hypotonia
2290	FOXG1	HP:0000158	Macroglossia
2290	FOXG1	HP:0002020	Gastroesophageal reflux
2290	FOXG1	HP:0002019	Constipation
2290	FOXG1	HP:0011800	Midface retrusion
2290	FOXG1	HP:0100540	Palpebral edema
2290	FOXG1	HP:0002079	Hypoplasia of the corpus callosum
2290	FOXG1	HP:0002072	Chorea
2290	FOXG1	HP:0002186	Apraxia
2290	FOXG1	HP:0100703	Tongue thrusting
2290	FOXG1	HP:0009738	Abnormal antihelix morphology
2290	FOXG1	HP:0011968	Feeding difficulties
2290	FOXG1	HP:0002376	Developmental regression
2290	FOXG1	HP:0002353	EEG abnormality
2290	FOXG1	HP:0100660	Dyskinesia
2290	FOXG1	HP:0010804	Tented upper lip vermilion
2290	FOXG1	HP:0002307	Drooling
2290	FOXG1	HP:0002305	Athetosis
2290	FOXG1	HP:0031936	Delayed ability to walk
2290	FOXG1	HP:0000737	Irritability
2290	FOXG1	HP:0000733	Abnormal repetitive mannerisms
2290	FOXG1	HP:0000735	Impaired social interactions
2290	FOXG1	HP:0003196	Short nose
2290	FOXG1	HP:0000286	Epicanthus
2290	FOXG1	HP:0002808	Kyphosis
2290	FOXG1	HP:0000253	Progressive microcephaly
2290	FOXG1	HP:0000252	Microcephaly
2290	FOXG1	HP:0000219	Thin upper lip vermilion
2290	FOXG1	HP:0000232	Everted lower lip vermilion
2290	FOXG1	HP:0002835	Aspiration
2290	FOXG1	HP:0001510	Growth delay
2290	FOXG1	HP:0000319	Smooth philtrum
2290	FOXG1	HP:0000303	Mandibular prognathia
2290	FOXG1	HP:0005280	Depressed nasal bridge
2290	FOXG1	HP:0030215	Inappropriate crying
2290	FOXG1	HP:0000494	Downslanted palpebral fissures
2290	FOXG1	HP:0012448	Delayed myelination
2290	FOXG1	HP:0001763	Pes planus
2290	FOXG1	HP:0000414	Bulbous nose
2290	FOXG1	HP:0000411	Protruding ear
2290	FOXG1	HP:0001762	Talipes equinovarus
2290	FOXG1	HP:0005487	Prominent metopic ridge
2290	FOXG1	HP:0000581	Blepharophimosis
2294	FOXF1	HP:0010955	Dilatation of the bladder
2294	FOXF1	HP:0010946	Dilatation of the renal pelvis
2294	FOXF1	HP:0001195	Single umbilical artery
2294	FOXF1	HP:0010882	Pulmonary valve atresia
2294	FOXF1	HP:0002580	Volvulus
2294	FOXF1	HP:0001252	Hypotonia
2294	FOXF1	HP:0001263	Global developmental delay
2294	FOXF1	HP:0002575	Tracheoesophageal fistula
2294	FOXF1	HP:0002566	Intestinal malrotation
2294	FOXF1	HP:0100867	Duodenal stenosis
2294	FOXF1	HP:0003811	Neonatal death
2294	FOXF1	HP:0000072	Hydroureter
2294	FOXF1	HP:0000047	Hypospadias
2294	FOXF1	HP:0000006	Autosomal dominant inheritance
2294	FOXF1	HP:0002643	Neonatal respiratory distress
2294	FOXF1	HP:0000175	Cleft palate
2294	FOXF1	HP:0410030	Cleft lip
2294	FOXF1	HP:0000126	Hydronephrosis
2294	FOXF1	HP:0002023	Anal atresia
2294	FOXF1	HP:0002032	Esophageal atresia
2294	FOXF1	HP:0003316	Butterfly vertebrae
2294	FOXF1	HP:0033186	Misalignment of the pulmonary veins
2294	FOXF1	HP:0002098	Respiratory distress
2294	FOXF1	HP:0002092	Pulmonary arterial hypertension
2294	FOXF1	HP:0003396	Syringomyelia
2294	FOXF1	HP:0010444	Pulmonary insufficiency
2294	FOXF1	HP:0003468	Abnormal vertebral morphology
2294	FOXF1	HP:0002119	Ventriculomegaly
2294	FOXF1	HP:0002101	Abnormal lung lobation
2294	FOXF1	HP:0002190	Choroid plexus cyst
2294	FOXF1	HP:0033208	Alveolar capillary dysplasia
2294	FOXF1	HP:0002245	Meckel diverticulum
2294	FOXF1	HP:0002251	Aganglionic megacolon
2294	FOXF1	HP:0002247	Duodenal atresia
2294	FOXF1	HP:0002202	Pleural effusion
2294	FOXF1	HP:0010773	Partial anomalous pulmonary venous return
2294	FOXF1	HP:0002308	Chiari malformation
2294	FOXF1	HP:0004927	Pulmonary artery dilatation
2294	FOXF1	HP:0004383	Hypoplastic left heart
2294	FOXF1	HP:0011467	Absent gallbladder
2294	FOXF1	HP:0030732	Dysplastic tricuspid valve
2294	FOXF1	HP:0004415	Pulmonary artery stenosis
2294	FOXF1	HP:0000913	Posterior rib fusion
2294	FOXF1	HP:0000813	Bicornuate uterus
2294	FOXF1	HP:0011571	Parachute mitral valve
2294	FOXF1	HP:0030889	Congenital shortened small intestine
2294	FOXF1	HP:0011611	Interrupted aortic arch
2294	FOXF1	HP:0000278	Retrognathia
2294	FOXF1	HP:0000248	Brachycephaly
2294	FOXF1	HP:0001561	Polyhydramnios
2294	FOXF1	HP:0001540	Diastasis recti
2294	FOXF1	HP:0001539	Omphalocele
2294	FOXF1	HP:0006521	Pulmonary lymphangiectasia
2294	FOXF1	HP:0001694	Right-to-left shunt
2294	FOXF1	HP:0000369	Low-set ears
2294	FOXF1	HP:0001667	Right ventricular hypertrophy
2294	FOXF1	HP:0001680	Coarctation of aorta
2294	FOXF1	HP:0000347	Micrognathia
2294	FOXF1	HP:0001650	Aortic valve stenosis
2294	FOXF1	HP:0012304	Hypoplastic aortic arch
2294	FOXF1	HP:0001647	Bicuspid aortic valve
2294	FOXF1	HP:0000316	Hypertelorism
2294	FOXF1	HP:0001643	Patent ductus arteriosus
2294	FOXF1	HP:0001655	Patent foramen ovale
2294	FOXF1	HP:0001629	Ventricular septal defect
2294	FOXF1	HP:0001636	Tetralogy of Fallot
2294	FOXF1	HP:0001631	Atrial septal defect
2294	FOXF1	HP:0005301	Persistent left superior vena cava
2294	FOXF1	HP:0006695	Atrioventricular canal defect
2294	FOXF1	HP:0001734	Annular pancreas
2294	FOXF1	HP:0000476	Cystic hygroma
2294	FOXF1	HP:0000490	Deeply set eye
2294	FOXF1	HP:0001790	Nonimmune hydrops fetalis
2294	FOXF1	HP:0000474	Thickened nuchal skin fold
2294	FOXF1	HP:0001746	Asplenia
2296	FOXC1	HP:0009918	Ectopia pupillae
2296	FOXC1	HP:0000047	Hypospadias
2296	FOXC1	HP:0031159	Thinning of Descemet membrane
2296	FOXC1	HP:0000006	Autosomal dominant inheritance
2296	FOXC1	HP:0001320	Cerebellar vermis hypoplasia
2296	FOXC1	HP:0001492	Axenfeld anomaly
2296	FOXC1	HP:0007676	Hypoplasia of the iris
2296	FOXC1	HP:0002025	Anal stenosis
2296	FOXC1	HP:0011800	Midface retrusion
2296	FOXC1	HP:0003593	Infantile onset
2296	FOXC1	HP:0003577	Congenital onset
2296	FOXC1	HP:0002280	Enlarged cisterna magna
2296	FOXC1	HP:0001087	Developmental glaucoma
2296	FOXC1	HP:0003621	Juvenile onset
2296	FOXC1	HP:0000639	Nystagmus
2296	FOXC1	HP:0000627	Posterior embryotoxon
2296	FOXC1	HP:0000691	Microdontia
2296	FOXC1	HP:0000659	Peters anomaly
2296	FOXC1	HP:0000668	Hypodontia
2296	FOXC1	HP:0030680	Abnormality of cardiovascular system morphology
2296	FOXC1	HP:0011493	Central opacification of the cornea
2296	FOXC1	HP:0011484	Posterior synechiae of the anterior chamber
2296	FOXC1	HP:0011483	Anterior synechiae of the anterior chamber
2296	FOXC1	HP:0011462	Young adult onset
2296	FOXC1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
2296	FOXC1	HP:0008053	Aplasia/Hypoplasia of the iris
2296	FOXC1	HP:0008059	Aplasia/Hypoplasia of the macula
2296	FOXC1	HP:0000272	Malar flattening
2296	FOXC1	HP:0007759	Opacification of the corneal stroma
2296	FOXC1	HP:0001582	Redundant skin
2296	FOXC1	HP:0000232	Everted lower lip vermilion
2296	FOXC1	HP:0001510	Growth delay
2296	FOXC1	HP:0000365	Hearing impairment
2296	FOXC1	HP:0000316	Hypertelorism
2296	FOXC1	HP:0001643	Patent ductus arteriosus
2296	FOXC1	HP:0000327	Hypoplasia of the maxilla
2296	FOXC1	HP:0001631	Atrial septal defect
2296	FOXC1	HP:0007905	Abnormal iris vasculature
2296	FOXC1	HP:0007990	Hypoplastic iris stroma
2296	FOXC1	HP:0000407	Sensorineural hearing impairment
2296	FOXC1	HP:0005280	Depressed nasal bridge
2296	FOXC1	HP:0000486	Strabismus
2296	FOXC1	HP:0011120	Concave nasal ridge
2296	FOXC1	HP:0000431	Wide nasal bridge
2296	FOXC1	HP:0000518	Cataract
2296	FOXC1	HP:0000526	Aniridia
2296	FOXC1	HP:0000520	Proptosis
2296	FOXC1	HP:0000523	Subcapsular cataract
2296	FOXC1	HP:0000506	Telecanthus
2296	FOXC1	HP:0000501	Glaucoma
2296	FOXC1	HP:0000593	Abnormal anterior chamber morphology
2296	FOXC1	HP:0011220	Prominent forehead
2296	FOXC1	HP:0000558	Rieger anomaly
2296	FOXC1	HP:0000572	Visual loss
2299	FOXI1	HP:0008586	Hypoplasia of the cochlea
2299	FOXI1	HP:0008554	Cochlear malformation
2299	FOXI1	HP:0001251	Ataxia
2299	FOXI1	HP:0001249	Intellectual disability
2299	FOXI1	HP:0000007	Autosomal recessive inheritance
2299	FOXI1	HP:0025484	Increased circulating thyroglobulin level
2299	FOXI1	HP:0002777	Tracheal stenosis
2299	FOXI1	HP:0000112	Nephropathy
2299	FOXI1	HP:0002093	Respiratory insufficiency
2299	FOXI1	HP:0002167	Abnormality of speech or vocalization
2299	FOXI1	HP:0008223	Compensated hypothyroidism
2299	FOXI1	HP:0003577	Congenital onset
2299	FOXI1	HP:0002321	Vertigo
2299	FOXI1	HP:0008527	Congenital sensorineural hearing impairment
2299	FOXI1	HP:0011387	Enlarged vestibular aqueduct
2299	FOXI1	HP:0000853	Goiter
2299	FOXI1	HP:0000843	Hyperparathyroidism
2299	FOXI1	HP:0000821	Hypothyroidism
2299	FOXI1	HP:0002890	Thyroid carcinoma
2299	FOXI1	HP:0000359	Abnormality of the inner ear
2299	FOXI1	HP:0000376	Incomplete partition of the cochlea type II
2299	FOXI1	HP:0000407	Sensorineural hearing impairment
2299	FOXI1	HP:0001751	Abnormal vestibular function
2301	FOXE3	HP:0001166	Arachnodactyly
2301	FOXE3	HP:0001297	Stroke
2301	FOXE3	HP:0003829	Typified by incomplete penetrance
2301	FOXE3	HP:0000098	Tall stature
2301	FOXE3	HP:0002686	Prenatal maternal abnormality
2301	FOXE3	HP:0000023	Inguinal hernia
2301	FOXE3	HP:0031159	Thinning of Descemet membrane
2301	FOXE3	HP:0000007	Autosomal recessive inheritance
2301	FOXE3	HP:0000006	Autosomal dominant inheritance
2301	FOXE3	HP:0002650	Scoliosis
2301	FOXE3	HP:0002647	Aortic dissection
2301	FOXE3	HP:0002616	Aortic root aneurysm
2301	FOXE3	HP:0012163	Carotid artery dilatation
2301	FOXE3	HP:0007663	Reduced visual acuity
2301	FOXE3	HP:0002705	High, narrow palate
2301	FOXE3	HP:0002140	Ischemic stroke
2301	FOXE3	HP:0002138	Subarachnoid hemorrhage
2301	FOXE3	HP:0002107	Pneumothorax
2301	FOXE3	HP:0002105	Hemoptysis
2301	FOXE3	HP:0003577	Congenital onset
2301	FOXE3	HP:0003581	Adult onset
2301	FOXE3	HP:0003549	Abnormality of connective tissue
2301	FOXE3	HP:0200146	Mucoid extracellular matrix accumulation
2301	FOXE3	HP:0100775	Dural ectasia
2301	FOXE3	HP:0100749	Chest pain
2301	FOXE3	HP:0002326	Transient ischemic attack
2301	FOXE3	HP:0001087	Developmental glaucoma
2301	FOXE3	HP:0004959	Descending thoracic aorta aneurysm
2301	FOXE3	HP:0004933	Ascending aortic dissection
2301	FOXE3	HP:0004950	Peripheral arterial stenosis
2301	FOXE3	HP:0004944	Dilatation of the cerebral artery
2301	FOXE3	HP:0004942	Aortic aneurysm
2301	FOXE3	HP:0000639	Nystagmus
2301	FOXE3	HP:0000647	Sclerocornea
2301	FOXE3	HP:0000659	Peters anomaly
2301	FOXE3	HP:0000766	Abnormal sternum morphology
2301	FOXE3	HP:0011493	Central opacification of the cornea
2301	FOXE3	HP:0011484	Posterior synechiae of the anterior chamber
2301	FOXE3	HP:0011483	Anterior synechiae of the anterior chamber
2301	FOXE3	HP:0011463	Childhood onset
2301	FOXE3	HP:0012763	Paroxysmal dyspnea
2301	FOXE3	HP:0000822	Hypertension
2301	FOXE3	HP:0000978	Bruising susceptibility
2301	FOXE3	HP:0000965	Cutis marmorata
2301	FOXE3	HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye
2301	FOXE3	HP:0007707	Congenital aphakia
2301	FOXE3	HP:0000278	Retrognathia
2301	FOXE3	HP:0005112	Abdominal aortic aneurysm
2301	FOXE3	HP:0007779	Anterior segment of eye aplasia
2301	FOXE3	HP:0007759	Opacification of the corneal stroma
2301	FOXE3	HP:0002875	Exertional dyspnea
2301	FOXE3	HP:0005162	Abnormal left ventricular function
2301	FOXE3	HP:0001677	Coronary artery atherosclerosis
2301	FOXE3	HP:0001647	Bicuspid aortic valve
2301	FOXE3	HP:0000316	Hypertelorism
2301	FOXE3	HP:0001643	Patent ductus arteriosus
2301	FOXE3	HP:0001659	Aortic regurgitation
2301	FOXE3	HP:0001640	Cardiomegaly
2301	FOXE3	HP:0007957	Corneal opacity
2301	FOXE3	HP:0007906	Ocular hypertension
2301	FOXE3	HP:0012499	Descending aortic dissection
2301	FOXE3	HP:0007973	Retinal dysplasia
2301	FOXE3	HP:0000486	Strabismus
2301	FOXE3	HP:0000482	Microcornea
2301	FOXE3	HP:0011106	Hypovolemia
2301	FOXE3	HP:0001763	Pes planus
2301	FOXE3	HP:0000518	Cataract
2301	FOXE3	HP:0000525	Abnormality iris morphology
2301	FOXE3	HP:0000526	Aniridia
2301	FOXE3	HP:0000523	Subcapsular cataract
2301	FOXE3	HP:0000504	Abnormality of vision
2301	FOXE3	HP:0000589	Coloboma
2301	FOXE3	HP:0000568	Microphthalmia
2302	FOXJ1	HP:0010953	Noncommunicating hydrocephalus
2302	FOXJ1	HP:0025177	Peribronchovascular interstitial thickening
2302	FOXJ1	HP:0002566	Intestinal malrotation
2302	FOXJ1	HP:0001217	Clubbing
2302	FOXJ1	HP:0000006	Autosomal dominant inheritance
2302	FOXJ1	HP:0002643	Neonatal respiratory distress
2302	FOXJ1	HP:0002783	Recurrent lower respiratory tract infections
2302	FOXJ1	HP:0000119	Abnormality of the genitourinary system
2302	FOXJ1	HP:0002788	Recurrent upper respiratory tract infections
2302	FOXJ1	HP:0032543	Lithoptysis
2302	FOXJ1	HP:0031245	Productive cough
2302	FOXJ1	HP:0003363	Abdominal situs inversus
2302	FOXJ1	HP:0002011	Morphological central nervous system abnormality
2302	FOXJ1	HP:0100582	Nasal polyposis
2302	FOXJ1	HP:0002119	Ventriculomegaly
2302	FOXJ1	HP:0002110	Bronchiectasis
2302	FOXJ1	HP:0008222	Female infertility
2302	FOXJ1	HP:0002257	Chronic rhinitis
2302	FOXJ1	HP:0100750	Atelectasis
2302	FOXJ1	HP:0032016	Abnormal sputum
2302	FOXJ1	HP:0011947	Respiratory tract infection
2302	FOXJ1	HP:0010772	Anomalous pulmonary venous return
2302	FOXJ1	HP:0030680	Abnormality of cardiovascular system morphology
2302	FOXJ1	HP:0000750	Delayed speech and language development
2302	FOXJ1	HP:0000924	Abnormality of the skeletal system
2302	FOXJ1	HP:0011539	Atrial situs ambiguous
2302	FOXJ1	HP:0011535	Abnormal atrial arrangement
2302	FOXJ1	HP:0030828	Wheezing
2302	FOXJ1	HP:0003251	Male infertility
2302	FOXJ1	HP:0011617	Pulmonary situs ambiguus
2302	FOXJ1	HP:0025576	Abnormal inferior vena cava morphology
2302	FOXJ1	HP:0000238	Hydrocephalus
2302	FOXJ1	HP:0012206	Abnormal sperm motility
2302	FOXJ1	HP:0002878	Respiratory failure
2302	FOXJ1	HP:0000389	Chronic otitis media
2302	FOXJ1	HP:0006536	Airway obstruction
2302	FOXJ1	HP:0001696	Situs inversus totalis
2302	FOXJ1	HP:0000365	Hearing impairment
2302	FOXJ1	HP:0001669	Transposition of the great arteries
2302	FOXJ1	HP:0031456	Ectopic pregnancy
2302	FOXJ1	HP:0001627	Abnormal heart morphology
2302	FOXJ1	HP:0005301	Persistent left superior vena cava
2302	FOXJ1	HP:0000403	Recurrent otitis media
2302	FOXJ1	HP:0000405	Conductive hearing impairment
2302	FOXJ1	HP:0001719	Double outlet right ventricle
2302	FOXJ1	HP:0011109	Chronic sinusitis
2302	FOXJ1	HP:0001746	Asplenia
2302	FOXJ1	HP:0001748	Polysplenia
2302	FOXJ1	HP:0001742	Nasal congestion
2302	FOXJ1	HP:0005425	Recurrent sinopulmonary infections
2302	FOXJ1	HP:0011274	Recurrent mycobacterial infections
2302	FOXJ1	HP:0000510	Rod-cone dystrophy
2303	FOXC2	HP:0100820	Glomerulopathy
2303	FOXC2	HP:0000093	Proteinuria
2303	FOXC2	HP:0000075	Renal duplication
2303	FOXC2	HP:0001324	Muscle weakness
2303	FOXC2	HP:0000010	Recurrent urinary tract infections
2303	FOXC2	HP:0000006	Autosomal dominant inheritance
2303	FOXC2	HP:0002619	Varicose veins
2303	FOXC2	HP:0000175	Cleft palate
2303	FOXC2	HP:0003550	Predominantly lower limb lymphedema
2303	FOXC2	HP:0009743	Distichiasis
2303	FOXC2	HP:0009745	Spinal arachnoid cyst
2303	FOXC2	HP:0001004	Lymphedema
2303	FOXC2	HP:0200020	Corneal erosion
2303	FOXC2	HP:0100658	Cellulitis
2303	FOXC2	HP:0004930	Abnormality of the pulmonary vasculature
2303	FOXC2	HP:0001970	Tubulointerstitial nephritis
2303	FOXC2	HP:0000613	Photophobia
2303	FOXC2	HP:0011367	Yellow nails
2303	FOXC2	HP:0000656	Ectropion
2303	FOXC2	HP:0030680	Abnormality of cardiovascular system morphology
2303	FOXC2	HP:0003011	Abnormality of the musculature
2303	FOXC2	HP:0012804	Corneal ulceration
2303	FOXC2	HP:0000819	Diabetes mellitus
2303	FOXC2	HP:0010310	Chylothorax
2303	FOXC2	HP:0100244	Fibrosarcoma
2303	FOXC2	HP:0011675	Arrhythmia
2303	FOXC2	HP:0002808	Kyphosis
2303	FOXC2	HP:0001581	Recurrent skin infections
2303	FOXC2	HP:0000204	Cleft upper lip
2303	FOXC2	HP:0000347	Micrognathia
2303	FOXC2	HP:0001643	Patent ductus arteriosus
2303	FOXC2	HP:0001629	Ventricular septal defect
2303	FOXC2	HP:0001636	Tetralogy of Fallot
2303	FOXC2	HP:0000476	Cystic hygroma
2303	FOXC2	HP:0000495	Recurrent corneal erosions
2303	FOXC2	HP:0001790	Nonimmune hydrops fetalis
2303	FOXC2	HP:0000465	Webbed neck
2303	FOXC2	HP:0000518	Cataract
2303	FOXC2	HP:0000509	Conjunctivitis
2303	FOXC2	HP:0000508	Ptosis
2303	FOXC2	HP:0000568	Microphthalmia
2304	FOXE1	HP:0010864	Intellectual disability, severe
2304	FOXE1	HP:0001252	Hypotonia
2304	FOXE1	HP:0001249	Intellectual disability
2304	FOXE1	HP:0001263	Global developmental delay
2304	FOXE1	HP:0001324	Muscle weakness
2304	FOXE1	HP:0002671	Basal cell carcinoma
2304	FOXE1	HP:0000007	Autosomal recessive inheritance
2304	FOXE1	HP:0000006	Autosomal dominant inheritance
2304	FOXE1	HP:0002653	Bone pain
2304	FOXE1	HP:0000158	Macroglossia
2304	FOXE1	HP:0000175	Cleft palate
2304	FOXE1	HP:0012125	Prostate cancer
2304	FOXE1	HP:0002757	Recurrent fractures
2304	FOXE1	HP:0002733	Abnormal lymph node morphology
2304	FOXE1	HP:0002730	Chronic noninfectious lymphadenopathy
2304	FOXE1	HP:0002019	Constipation
2304	FOXE1	HP:0005994	Nodular goiter
2304	FOXE1	HP:0008191	Thyroid agenesis
2304	FOXE1	HP:0002176	Spinal cord compression
2304	FOXE1	HP:0010564	Bifid epiglottis
2304	FOXE1	HP:0100786	Hypersomnia
2304	FOXE1	HP:0011968	Feeding difficulties
2304	FOXE1	HP:0100615	Ovarian neoplasm
2304	FOXE1	HP:0011362	Abnormal hair quantity
2304	FOXE1	HP:0004322	Short stature
2304	FOXE1	HP:0003003	Colon cancer
2304	FOXE1	HP:0000851	Congenital hypothyroidism
2304	FOXE1	HP:0000853	Goiter
2304	FOXE1	HP:0000821	Hypothyroidism
2304	FOXE1	HP:0003270	Abdominal distention
2304	FOXE1	HP:0012288	Neoplasm of head and neck
2304	FOXE1	HP:0000280	Coarse facial features
2304	FOXE1	HP:0000278	Retrognathia
2304	FOXE1	HP:0000271	Abnormality of the face
2304	FOXE1	HP:0000239	Large fontanelles
2304	FOXE1	HP:0002895	Papillary thyroid carcinoma
2304	FOXE1	HP:0001561	Polyhydramnios
2304	FOXE1	HP:0001510	Growth delay
2304	FOXE1	HP:0012378	Fatigue
2304	FOXE1	HP:0006528	Chronic lung disease
2304	FOXE1	HP:0000453	Choanal atresia
2304	FOXE1	HP:0006731	Follicular thyroid carcinoma
2304	FOXE1	HP:3000037	Abnormal neck blood vessel morphology
2304	FOXE1	HP:0006766	Papillary renal cell carcinoma
2304	FOXE1	HP:0012531	Pain
2308	FOXO1	HP:0001428	Somatic mutation
2308	FOXO1	HP:0006779	Alveolar rhabdomyosarcoma
2312	FLG	HP:0033807	Absent keratohyalin granules
2312	FLG	HP:0000028	Cryptorchidism
2312	FLG	HP:0000007	Autosomal recessive inheritance
2312	FLG	HP:0000006	Autosomal dominant inheritance
2312	FLG	HP:0002099	Asthma
2312	FLG	HP:0002167	Abnormality of speech or vocalization
2312	FLG	HP:0033252	Palmar hyperlinearity
2312	FLG	HP:0007018	Attention deficit hyperactivity disorder
2312	FLG	HP:0032152	Keratosis pilaris
2312	FLG	HP:0000717	Autism
2312	FLG	HP:0011463	Childhood onset
2312	FLG	HP:0000976	Eczematoid dermatitis
2312	FLG	HP:0000958	Dry skin
2312	FLG	HP:0000966	Hypohidrosis
2312	FLG	HP:0000962	Hyperkeratosis
2312	FLG	HP:0008064	Ichthyosis
2312	FLG	HP:0007759	Opacification of the corneal stroma
2313	FLI1	HP:0001161	Hand polydactyly
2313	FLI1	HP:0003765	Psoriasiform dermatitis
2313	FLI1	HP:0007302	Bipolar affective disorder
2313	FLI1	HP:0009906	Aplasia/Hypoplasia of the earlobes
2313	FLI1	HP:0002414	Spina bifida
2313	FLI1	HP:0001274	Agenesis of corpus callosum
2313	FLI1	HP:0001250	Seizure
2313	FLI1	HP:0001249	Intellectual disability
2313	FLI1	HP:0001265	Hyporeflexia
2313	FLI1	HP:0001263	Global developmental delay
2313	FLI1	HP:0002574	Episodic abdominal pain
2313	FLI1	HP:0002566	Intestinal malrotation
2313	FLI1	HP:0006101	Finger syndactyly
2313	FLI1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
2313	FLI1	HP:0100849	Neoplasm of the scrotum
2313	FLI1	HP:0031030	Elevated carcinoma antigen 125 level
2313	FLI1	HP:0007340	Lower limb muscle weakness
2313	FLI1	HP:0000023	Inguinal hernia
2313	FLI1	HP:0000028	Cryptorchidism
2313	FLI1	HP:0008872	Feeding difficulties in infancy
2313	FLI1	HP:0000007	Autosomal recessive inheritance
2313	FLI1	HP:0000003	Multicystic kidney dysplasia
2313	FLI1	HP:0000006	Autosomal dominant inheritance
2313	FLI1	HP:0001302	Pachygyria
2313	FLI1	HP:0002650	Scoliosis
2313	FLI1	HP:0000174	Abnormal palate morphology
2313	FLI1	HP:0025435	Increased circulating lactate dehydrogenase concentration
2313	FLI1	HP:0006254	Elevated circulating alpha-fetoprotein concentration
2313	FLI1	HP:0000132	Menorrhagia
2313	FLI1	HP:0000126	Hydronephrosis
2313	FLI1	HP:0002021	Pyloric stenosis
2313	FLI1	HP:0002019	Constipation
2313	FLI1	HP:0002017	Nausea and vomiting
2313	FLI1	HP:0002007	Frontal bossing
2313	FLI1	HP:0003312	Abnormal form of the vertebral bodies
2313	FLI1	HP:0002039	Anorexia
2313	FLI1	HP:0002059	Cerebral atrophy
2313	FLI1	HP:0003474	Somatic sensory dysfunction
2313	FLI1	HP:0002119	Ventriculomegaly
2313	FLI1	HP:0003418	Back pain
2313	FLI1	HP:0011932	Abnormal superior cerebellar peduncle morphology
2313	FLI1	HP:0011877	Increased mean platelet volume
2313	FLI1	HP:0100711	Abnormal thoracic spine morphology
2313	FLI1	HP:0002247	Duodenal atresia
2313	FLI1	HP:0003540	Impaired platelet aggregation
2313	FLI1	HP:0002205	Recurrent respiratory infections
2313	FLI1	HP:0004866	Impaired ADP-induced platelet aggregation
2313	FLI1	HP:0100753	Schizophrenia
2313	FLI1	HP:0007018	Attention deficit hyperactivity disorder
2313	FLI1	HP:0002321	Vertigo
2313	FLI1	HP:0002315	Headache
2313	FLI1	HP:0100608	Metrorrhagia
2313	FLI1	HP:0100615	Ovarian neoplasm
2313	FLI1	HP:0010784	Uterine neoplasm
2313	FLI1	HP:0010761	Broad columella
2313	FLI1	HP:0005528	Bone marrow hypocellularity
2313	FLI1	HP:0010059	Broad hallux phalanx
2313	FLI1	HP:0001965	Abnormal scalp morphology
2313	FLI1	HP:0000612	Iris coloboma
2313	FLI1	HP:0000625	Eyelid coloboma
2313	FLI1	HP:0001903	Anemia
2313	FLI1	HP:0000656	Ectropion
2313	FLI1	HP:0004322	Short stature
2313	FLI1	HP:0030692	Brain neoplasm
2313	FLI1	HP:0004383	Hypoplastic left heart
2313	FLI1	HP:0004397	Ectopic anus
2313	FLI1	HP:0004378	Abnormality of the anus
2313	FLI1	HP:0004429	Recurrent viral infections
2313	FLI1	HP:0003196	Short nose
2313	FLI1	HP:0000921	Missing ribs
2313	FLI1	HP:0000826	Precocious puberty
2313	FLI1	HP:0003270	Abdominal distention
2313	FLI1	HP:0010302	Spinal cord tumor
2313	FLI1	HP:0000989	Pruritus
2313	FLI1	HP:0000952	Jaundice
2313	FLI1	HP:0000964	Eczema
2313	FLI1	HP:0000286	Epicanthus
2313	FLI1	HP:0001596	Alopecia
2313	FLI1	HP:0000256	Macrocephaly
2313	FLI1	HP:0030067	Peripheral primitive neuroectodermal neoplasm
2313	FLI1	HP:0002827	Hip dislocation
2313	FLI1	HP:0000243	Trigonocephaly
2313	FLI1	HP:0002894	Neoplasm of the pancreas
2313	FLI1	HP:0001522	Death in infancy
2313	FLI1	HP:0001541	Ascites
2313	FLI1	HP:0001511	Intrauterine growth retardation
2313	FLI1	HP:0001510	Growth delay
2313	FLI1	HP:0031501	Pelvic mass
2313	FLI1	HP:0000368	Low-set, posteriorly rotated ears
2313	FLI1	HP:0000343	Long philtrum
2313	FLI1	HP:0001680	Coarctation of aorta
2313	FLI1	HP:0000348	High forehead
2313	FLI1	HP:0001650	Aortic valve stenosis
2313	FLI1	HP:0000319	Smooth philtrum
2313	FLI1	HP:0000316	Hypertelorism
2313	FLI1	HP:0000324	Facial asymmetry
2313	FLI1	HP:0001629	Ventricular septal defect
2313	FLI1	HP:0001626	Abnormality of the cardiovascular system
2313	FLI1	HP:0001622	Premature birth
2313	FLI1	HP:0001734	Annular pancreas
2313	FLI1	HP:0001733	Pancreatitis
2313	FLI1	HP:0000486	Strabismus
2313	FLI1	HP:0000482	Microcornea
2313	FLI1	HP:0000494	Downslanted palpebral fissures
2313	FLI1	HP:0000463	Anteverted nares
2313	FLI1	HP:0000473	Torticollis
2313	FLI1	HP:0000470	Short neck
2313	FLI1	HP:0000465	Webbed neck
2313	FLI1	HP:0001770	Toe syndactyly
2313	FLI1	HP:0001763	Pes planus
2313	FLI1	HP:0000431	Wide nasal bridge
2313	FLI1	HP:0000518	Cataract
2313	FLI1	HP:0001847	Long hallux
2313	FLI1	HP:0000520	Proptosis
2313	FLI1	HP:0001824	Weight loss
2313	FLI1	HP:0000508	Ptosis
2313	FLI1	HP:0001831	Short toe
2313	FLI1	HP:0001892	Abnormal bleeding
2313	FLI1	HP:0001863	Toe clinodactyly
2313	FLI1	HP:0001883	Talipes
2313	FLI1	HP:0012513	Upper limb pain
2313	FLI1	HP:0001873	Thrombocytopenia
2314	FLII	HP:0001156	Brachydactyly
2314	FLII	HP:0001161	Hand polydactyly
2314	FLII	HP:0007328	Impaired pain sensation
2314	FLII	HP:0001288	Gait disturbance
2314	FLII	HP:0001250	Seizure
2314	FLII	HP:0001252	Hypotonia
2314	FLII	HP:0001249	Intellectual disability
2314	FLII	HP:0001265	Hyporeflexia
2314	FLII	HP:0001263	Global developmental delay
2314	FLII	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
2314	FLII	HP:0008678	Renal hypoplasia/aplasia
2314	FLII	HP:0000069	Abnormality of the ureter
2314	FLII	HP:0001387	Joint stiffness
2314	FLII	HP:0008872	Feeding difficulties in infancy
2314	FLII	HP:0002650	Scoliosis
2314	FLII	HP:0000194	Open mouth
2314	FLII	HP:0000175	Cleft palate
2314	FLII	HP:0002020	Gastroesophageal reflux
2314	FLII	HP:0002019	Constipation
2314	FLII	HP:0002007	Frontal bossing
2314	FLII	HP:0003312	Abnormal form of the vertebral bodies
2314	FLII	HP:0011800	Midface retrusion
2314	FLII	HP:0100542	Abnormal localization of kidney
2314	FLII	HP:0002155	Hypertriglyceridemia
2314	FLII	HP:0002119	Ventriculomegaly
2314	FLII	HP:0002167	Abnormality of speech or vocalization
2314	FLII	HP:0100716	Self-injurious behavior
2314	FLII	HP:0100729	Large face
2314	FLII	HP:0007016	Corticospinal tract hypoplasia
2314	FLII	HP:0007018	Attention deficit hyperactivity disorder
2314	FLII	HP:0002360	Sleep disturbance
2314	FLII	HP:0002353	EEG abnormality
2314	FLII	HP:0009830	Peripheral neuropathy
2314	FLII	HP:0010804	Tented upper lip vermilion
2314	FLII	HP:0010780	Hyperacusis
2314	FLII	HP:0004209	Clinodactyly of the 5th finger
2314	FLII	HP:0000680	Delayed eruption of primary teeth
2314	FLII	HP:0000679	Taurodontia
2314	FLII	HP:0000664	Synophrys
2314	FLII	HP:0004322	Short stature
2314	FLII	HP:0005607	Abnormal tracheobronchial morphology
2314	FLII	HP:0030680	Abnormality of cardiovascular system morphology
2314	FLII	HP:0000739	Anxiety
2314	FLII	HP:0000733	Abnormal repetitive mannerisms
2314	FLII	HP:0000750	Delayed speech and language development
2314	FLII	HP:0003124	Hypercholesterolemia
2314	FLII	HP:0003196	Short nose
2314	FLII	HP:0000826	Precocious puberty
2314	FLII	HP:0000821	Hypothyroidism
2314	FLII	HP:0000823	Delayed puberty
2314	FLII	HP:0000252	Microcephaly
2314	FLII	HP:0000248	Brachycephaly
2314	FLII	HP:0001558	Decreased fetal movement
2314	FLII	HP:0001531	Failure to thrive in infancy
2314	FLII	HP:0000204	Cleft upper lip
2314	FLII	HP:0001513	Obesity
2314	FLII	HP:0000389	Chronic otitis media
2314	FLII	HP:0001609	Hoarse voice
2314	FLII	HP:0000337	Broad forehead
2314	FLII	HP:0000347	Micrognathia
2314	FLII	HP:0000316	Hypertelorism
2314	FLII	HP:0000322	Short philtrum
2314	FLII	HP:0000303	Mandibular prognathia
2314	FLII	HP:0000405	Conductive hearing impairment
2314	FLII	HP:0005280	Depressed nasal bridge
2314	FLII	HP:0000486	Strabismus
2314	FLII	HP:0000482	Microcornea
2314	FLII	HP:0000490	Deeply set eye
2314	FLII	HP:0000463	Anteverted nares
2314	FLII	HP:0001770	Toe syndactyly
2314	FLII	HP:0001763	Pes planus
2314	FLII	HP:0000431	Wide nasal bridge
2314	FLII	HP:0000582	Upslanted palpebral fissure
2314	FLII	HP:0000541	Retinal detachment
2314	FLII	HP:0000545	Myopia
2316	FLNA	HP:0001156	Brachydactyly
2316	FLNA	HP:0001166	Arachnodactyly
2316	FLNA	HP:0001162	Postaxial hand polydactyly
2316	FLNA	HP:0001159	Syndactyly
2316	FLNA	HP:0002475	Myelomeningocele
2316	FLNA	HP:0003779	Antegonial notching of mandible
2316	FLNA	HP:0025197	Inclusion body fibromatosis
2316	FLNA	HP:0009882	Short distal phalanx of finger
2316	FLNA	HP:0002414	Spina bifida
2316	FLNA	HP:0001297	Stroke
2316	FLNA	HP:0001290	Generalized hypotonia
2316	FLNA	HP:0100807	Long fingers
2316	FLNA	HP:0001270	Motor delay
2316	FLNA	HP:0001288	Gait disturbance
2316	FLNA	HP:0001256	Intellectual disability, mild
2316	FLNA	HP:0001250	Seizure
2316	FLNA	HP:0001249	Intellectual disability
2316	FLNA	HP:0001264	Spastic diplegia
2316	FLNA	HP:0001263	Global developmental delay
2316	FLNA	HP:0001241	Capitate-hamate fusion
2316	FLNA	HP:0001239	Wrist flexion contracture
2316	FLNA	HP:0002566	Intestinal malrotation
2316	FLNA	HP:0100857	Flat sella turcica
2316	FLNA	HP:0006070	Metacarpophalangeal joint contracture
2316	FLNA	HP:0032388	Periventricular nodular heterotopia
2316	FLNA	HP:0007359	Focal-onset seizure
2316	FLNA	HP:0008661	Urethral stenosis
2316	FLNA	HP:0006000	Ureteral obstruction
2316	FLNA	HP:0006006	Hypotrophy of the small hand muscles
2316	FLNA	HP:0033606	Bone marrow maturation arrest
2316	FLNA	HP:0001220	Interphalangeal joint contracture of finger
2316	FLNA	HP:0003826	Stillbirth
2316	FLNA	HP:0003834	Shoulder dislocation
2316	FLNA	HP:0000076	Vesicoureteral reflux
2316	FLNA	HP:0000072	Hydroureter
2316	FLNA	HP:0000071	Ureteral stenosis
2316	FLNA	HP:0001374	Congenital hip dislocation
2316	FLNA	HP:0001377	Limited elbow extension
2316	FLNA	HP:0001376	Limitation of joint mobility
2316	FLNA	HP:0001371	Flexion contracture
2316	FLNA	HP:0001388	Joint laxity
2316	FLNA	HP:0001387	Joint stiffness
2316	FLNA	HP:0001382	Joint hypermobility
2316	FLNA	HP:0000047	Hypospadias
2316	FLNA	HP:0000023	Inguinal hernia
2316	FLNA	HP:0002684	Thickened calvaria
2316	FLNA	HP:0001363	Craniosynostosis
2316	FLNA	HP:0002694	Sclerosis of skull base
2316	FLNA	HP:0000028	Cryptorchidism
2316	FLNA	HP:0002688	Absent frontal sinuses
2316	FLNA	HP:0008897	Postnatal growth retardation
2316	FLNA	HP:0006207	Partial fusion of carpals
2316	FLNA	HP:0008872	Feeding difficulties in infancy
2316	FLNA	HP:0006160	Irregular metacarpals
2316	FLNA	HP:0006155	Long phalanx of finger
2316	FLNA	HP:0033725	Thin corpus callosum
2316	FLNA	HP:0001342	Cerebral hemorrhage
2316	FLNA	HP:0002673	Coxa valga
2316	FLNA	HP:0002652	Skeletal dysplasia
2316	FLNA	HP:0002650	Scoliosis
2316	FLNA	HP:0001321	Cerebellar hypoplasia
2316	FLNA	HP:0001319	Neonatal hypotonia
2316	FLNA	HP:0002645	Wormian bones
2316	FLNA	HP:0000189	Narrow palate
2316	FLNA	HP:0000179	Thick lower lip vermilion
2316	FLNA	HP:0025473	Hyperpigmented papule
2316	FLNA	HP:0000193	Bifid uvula
2316	FLNA	HP:0000191	Accessory oral frenulum
2316	FLNA	HP:0000160	Narrow mouth
2316	FLNA	HP:0000162	Glossoptosis
2316	FLNA	HP:0001488	Bilateral ptosis
2316	FLNA	HP:0000175	Cleft palate
2316	FLNA	HP:0001476	Delayed closure of the anterior fontanelle
2316	FLNA	HP:0005011	Mesomelic arm shortening
2316	FLNA	HP:0006335	Persistence of primary teeth
2316	FLNA	HP:0008952	Shoulder muscle hypoplasia
2316	FLNA	HP:0002700	Large foramen magnum
2316	FLNA	HP:0006248	Limited wrist movement
2316	FLNA	HP:0000126	Hydronephrosis
2316	FLNA	HP:0001423	X-linked dominant inheritance
2316	FLNA	HP:0002737	Thick skull base
2316	FLNA	HP:0002738	Hypoplastic frontal sinuses
2316	FLNA	HP:0002751	Kyphoscoliosis
2316	FLNA	HP:0001419	X-linked recessive inheritance
2316	FLNA	HP:0001417	X-linked inheritance
2316	FLNA	HP:0002719	Recurrent infections
2316	FLNA	HP:0002024	Malabsorption
2316	FLNA	HP:0002021	Pyloric stenosis
2316	FLNA	HP:0002020	Gastroesophageal reflux
2316	FLNA	HP:0002019	Constipation
2316	FLNA	HP:0040309	Increased size of the mandible
2316	FLNA	HP:0002003	Large forehead
2316	FLNA	HP:0003330	Abnormal bone structure
2316	FLNA	HP:0002013	Vomiting
2316	FLNA	HP:0002007	Frontal bossing
2316	FLNA	HP:0003304	Spondylolysis
2316	FLNA	HP:0011800	Midface retrusion
2316	FLNA	HP:0002089	Pulmonary hypoplasia
2316	FLNA	HP:0002084	Encephalocele
2316	FLNA	HP:0100543	Cognitive impairment
2316	FLNA	HP:0002094	Dyspnea
2316	FLNA	HP:0002092	Pulmonary arterial hypertension
2316	FLNA	HP:0002093	Respiratory insufficiency
2316	FLNA	HP:0002079	Hypoplasia of the corpus callosum
2316	FLNA	HP:0010444	Pulmonary insufficiency
2316	FLNA	HP:0009467	Radial deviation of the 2nd finger
2316	FLNA	HP:0008127	Bipartite calcaneus
2316	FLNA	HP:0100578	Lipoatrophy
2316	FLNA	HP:0004611	Anterior concavity of thoracic vertebrae
2316	FLNA	HP:0004608	Anteriorly placed odontoid process
2316	FLNA	HP:0004602	Cervical C2/C3 vertebral fusion
2316	FLNA	HP:0005916	Abnormal metacarpal morphology
2316	FLNA	HP:0009487	Ulnar deviation of the hand
2316	FLNA	HP:0009473	Joint contracture of the hand
2316	FLNA	HP:0009623	Proximal placement of thumb
2316	FLNA	HP:0002164	Nail dysplasia
2316	FLNA	HP:0100490	Camptodactyly of finger
2316	FLNA	HP:0010559	Vertical clivus
2316	FLNA	HP:0010557	Overlapping fingers
2316	FLNA	HP:0010562	Keloids
2316	FLNA	HP:0010560	Undulate clavicles
2316	FLNA	HP:0011877	Increased mean platelet volume
2316	FLNA	HP:0010505	Limitation of movement at ankles
2316	FLNA	HP:0010501	Limitation of knee mobility
2316	FLNA	HP:0003593	Infantile onset
2316	FLNA	HP:0002269	Abnormality of neuronal migration
2316	FLNA	HP:0003577	Congenital onset
2316	FLNA	HP:0002236	Frontal upsweep of hair
2316	FLNA	HP:0002208	Coarse hair
2316	FLNA	HP:0002205	Recurrent respiratory infections
2316	FLNA	HP:0008404	Nail dystrophy
2316	FLNA	HP:0100790	Hernia
2316	FLNA	HP:0009702	Carpal synostosis
2316	FLNA	HP:0002282	Gray matter heterotopia
2316	FLNA	HP:0010675	Abnormal foot bone ossification
2316	FLNA	HP:0008368	Tarsal synostosis
2316	FLNA	HP:0010660	Abnormal hand bone ossification
2316	FLNA	HP:0009650	Short distal phalanx of the thumb
2316	FLNA	HP:0009642	Broad distal phalanx of the thumb
2316	FLNA	HP:0010614	Fibroma
2316	FLNA	HP:0003691	Scapular winging
2316	FLNA	HP:0001007	Hirsutism
2316	FLNA	HP:0001000	Abnormality of skin pigmentation
2316	FLNA	HP:0004987	Mesomelic leg shortening
2316	FLNA	HP:0009836	Broad distal phalanx of finger
2316	FLNA	HP:0100627	Displacement of the urethral meatus
2316	FLNA	HP:0009803	Short phalanx of finger
2316	FLNA	HP:0001087	Developmental glaucoma
2316	FLNA	HP:0007165	Periventricular heterotopia
2316	FLNA	HP:0009771	Osteolytic defects of the phalanges of the hand
2316	FLNA	HP:0009778	Short thumb
2316	FLNA	HP:0010743	Short metatarsal
2316	FLNA	HP:0009768	Broad phalanges of the hand
2316	FLNA	HP:0002308	Chiari malformation
2316	FLNA	HP:0004942	Aortic aneurysm
2316	FLNA	HP:0004279	Short palm
2316	FLNA	HP:0004232	Accessory carpal bones
2316	FLNA	HP:0000646	Amblyopia
2316	FLNA	HP:0000612	Iris coloboma
2316	FLNA	HP:0001939	Abnormality of metabolism/homeostasis
2316	FLNA	HP:0010049	Short metacarpal
2316	FLNA	HP:0010047	Short 5th metacarpal
2316	FLNA	HP:0010055	Broad hallux
2316	FLNA	HP:0010041	Short 3rd metacarpal
2316	FLNA	HP:0010044	Short 4th metacarpal
2316	FLNA	HP:0011355	Localized skin lesion
2316	FLNA	HP:0000684	Delayed eruption of teeth
2316	FLNA	HP:0011335	Frontal hirsutism
2316	FLNA	HP:0000674	Anodontia
2316	FLNA	HP:0000677	Oligodontia
2316	FLNA	HP:0000692	Tooth malposition
2316	FLNA	HP:0000695	Natal tooth
2316	FLNA	HP:0000689	Dental malocclusion
2316	FLNA	HP:0000685	Hypoplasia of teeth
2316	FLNA	HP:0009004	Hypoplasia of the musculature
2316	FLNA	HP:0012639	Abnormal nervous system morphology
2316	FLNA	HP:0011304	Broad thumb
2316	FLNA	HP:0001999	Abnormal facial shape
2316	FLNA	HP:0004325	Decreased body weight
2316	FLNA	HP:0004322	Short stature
2316	FLNA	HP:0004313	Decreased circulating antibody level
2316	FLNA	HP:0005640	Abnormal vertebral segmentation and fusion
2316	FLNA	HP:0030680	Abnormality of cardiovascular system morphology
2316	FLNA	HP:0003083	Dislocated radial head
2316	FLNA	HP:0004389	Intestinal pseudo-obstruction
2316	FLNA	HP:0003031	Ulnar bowing
2316	FLNA	HP:0005692	Joint hyperflexibility
2316	FLNA	HP:0003042	Elbow dislocation
2316	FLNA	HP:0003015	Flared metaphysis
2316	FLNA	HP:0003016	Metaphyseal widening
2316	FLNA	HP:0000772	Abnormal rib morphology
2316	FLNA	HP:0000767	Pectus excavatum
2316	FLNA	HP:0000750	Delayed speech and language development
2316	FLNA	HP:0009139	Osteolysis involving bones of the lower limbs
2316	FLNA	HP:0010109	Short hallux
2316	FLNA	HP:0000774	Narrow chest
2316	FLNA	HP:0000773	Short ribs
2316	FLNA	HP:0000776	Congenital diaphragmatic hernia
2316	FLNA	HP:0003103	Abnormal cortical bone morphology
2316	FLNA	HP:0003196	Short nose
2316	FLNA	HP:0000912	Sprengel anomaly
2316	FLNA	HP:0000926	Platyspondyly
2316	FLNA	HP:0003172	Abnormality of the pubic bone
2316	FLNA	HP:0004493	Craniofacial hyperostosis
2316	FLNA	HP:0004467	Preauricular pit
2316	FLNA	HP:0005792	Short humerus
2316	FLNA	HP:0030718	Right atrial enlargement
2316	FLNA	HP:0000882	Hypoplastic scapulae
2316	FLNA	HP:0011580	Short chordae tendineae of the mitral valve
2316	FLNA	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
2316	FLNA	HP:0000894	Short clavicles
2316	FLNA	HP:0030889	Congenital shortened small intestine
2316	FLNA	HP:0003202	Skeletal muscle atrophy
2316	FLNA	HP:0045039	Osteolysis involving bones of the upper limbs
2316	FLNA	HP:0034391	Elbow contracture
2316	FLNA	HP:0003298	Spina bifida occulta
2316	FLNA	HP:0003270	Abdominal distention
2316	FLNA	HP:0003256	Abnormality of the coagulation cascade
2316	FLNA	HP:0011645	Dilatation of the sinus of Valsalva
2316	FLNA	HP:0100258	Preaxial polydactyly
2316	FLNA	HP:0010307	Stridor
2316	FLNA	HP:0010306	Short thorax
2316	FLNA	HP:0000978	Bruising susceptibility
2316	FLNA	HP:0000974	Hyperextensible skin
2316	FLNA	HP:0000973	Cutis laxa
2316	FLNA	HP:0000954	Single transverse palmar crease
2316	FLNA	HP:0000963	Thin skin
2316	FLNA	HP:0000946	Hypoplastic ilia
2316	FLNA	HP:0000944	Abnormal metaphysis morphology
2316	FLNA	HP:0000941	Short diaphyses
2316	FLNA	HP:0008097	Partial fusion of tarsals
2316	FLNA	HP:0008081	Pes valgus
2316	FLNA	HP:0008087	Nonossified fifth metatarsal
2316	FLNA	HP:0008089	Abnormality of the fifth metatarsal bone
2316	FLNA	HP:0008070	Sparse hair
2316	FLNA	HP:0009381	Short finger
2316	FLNA	HP:0000286	Epicanthus
2316	FLNA	HP:0000283	Broad face
2316	FLNA	HP:0000280	Coarse facial features
2316	FLNA	HP:0000293	Full cheeks
2316	FLNA	HP:0001596	Alopecia
2316	FLNA	HP:0000260	Wide anterior fontanel
2316	FLNA	HP:0001592	Selective tooth agenesis
2316	FLNA	HP:0000274	Small face
2316	FLNA	HP:0000270	Delayed cranial suture closure
2316	FLNA	HP:0000272	Malar flattening
2316	FLNA	HP:0000269	Prominent occiput
2316	FLNA	HP:0006466	Ankle flexion contracture
2316	FLNA	HP:0006440	Increased density of long bone diaphyses
2316	FLNA	HP:0005090	Lateral femoral bowing
2316	FLNA	HP:0002814	Abnormality of the lower limb
2316	FLNA	HP:0002827	Hip dislocation
2316	FLNA	HP:0002828	Multiple joint contractures
2316	FLNA	HP:0030084	Clinodactyly
2316	FLNA	HP:0006380	Knee flexion contracture
2316	FLNA	HP:0006381	Rudimentary fibula
2316	FLNA	HP:0006383	Progressive bowing of long bones
2316	FLNA	HP:0006389	Limited knee flexion
2316	FLNA	HP:0005048	Synostosis of carpal bones
2316	FLNA	HP:0001571	Multiple impacted teeth
2316	FLNA	HP:0000239	Large fontanelles
2316	FLNA	HP:0000238	Hydrocephalus
2316	FLNA	HP:0002878	Respiratory failure
2316	FLNA	HP:0002879	Anisospondyly
2316	FLNA	HP:0000218	High palate
2316	FLNA	HP:0002857	Genu valgum
2316	FLNA	HP:0002869	Flared iliac wing
2316	FLNA	HP:0001537	Umbilical hernia
2316	FLNA	HP:0001539	Omphalocele
2316	FLNA	HP:0000201	Pierre-Robin sequence
2316	FLNA	HP:0001508	Failure to thrive
2316	FLNA	HP:0001510	Growth delay
2316	FLNA	HP:0012385	Camptodactyly
2316	FLNA	HP:0012368	Flat face
2316	FLNA	HP:0000377	Abnormal pinna morphology
2316	FLNA	HP:0005245	Intestinal hypoplasia
2316	FLNA	HP:0001607	Subglottic stenosis
2316	FLNA	HP:0001609	Hoarse voice
2316	FLNA	HP:0002949	Fused cervical vertebrae
2316	FLNA	HP:0005180	Tricuspid regurgitation
2316	FLNA	HP:0006487	Bowing of the long bones
2316	FLNA	HP:0000365	Hearing impairment
2316	FLNA	HP:0000358	Posteriorly rotated ears
2316	FLNA	HP:0000369	Low-set ears
2316	FLNA	HP:0001671	Abnormal cardiac septum morphology
2316	FLNA	HP:0000343	Long philtrum
2316	FLNA	HP:0011001	Increased bone mineral density
2316	FLNA	HP:0000337	Broad forehead
2316	FLNA	HP:0002999	Patellar dislocation
2316	FLNA	HP:0000336	Prominent supraorbital ridges
2316	FLNA	HP:0002996	Limited elbow movement
2316	FLNA	HP:0000349	Widow's peak
2316	FLNA	HP:0000347	Micrognathia
2316	FLNA	HP:0002982	Tibial bowing
2316	FLNA	HP:0002980	Femoral bowing
2316	FLNA	HP:0000319	Smooth philtrum
2316	FLNA	HP:0001647	Bicuspid aortic valve
2316	FLNA	HP:0000316	Hypertelorism
2316	FLNA	HP:0001648	Cor pulmonale
2316	FLNA	HP:0001643	Patent ductus arteriosus
2316	FLNA	HP:0000331	Short chin
2316	FLNA	HP:0002990	Fibular aplasia
2316	FLNA	HP:0001659	Aortic regurgitation
2316	FLNA	HP:0002986	Radial bowing
2316	FLNA	HP:0001654	Abnormal heart valve morphology
2316	FLNA	HP:0002987	Elbow flexion contracture
2316	FLNA	HP:0001653	Mitral regurgitation
2316	FLNA	HP:0000324	Facial asymmetry
2316	FLNA	HP:0001655	Patent foramen ovale
2316	FLNA	HP:0001627	Abnormal heart morphology
2316	FLNA	HP:0001635	Congestive heart failure
2316	FLNA	HP:0000307	Pointed chin
2316	FLNA	HP:0001631	Atrial septal defect
2316	FLNA	HP:0001634	Mitral valve prolapse
2316	FLNA	HP:0031624	Moderate myopia
2316	FLNA	HP:0006692	Short chordae tendineae of the tricuspid valve
2316	FLNA	HP:0006665	Coat hanger sign of ribs
2316	FLNA	HP:0001723	Restrictive cardiomyopathy
2316	FLNA	HP:0000407	Sensorineural hearing impairment
2316	FLNA	HP:0000403	Recurrent otitis media
2316	FLNA	HP:0000405	Conductive hearing impairment
2316	FLNA	HP:0000400	Macrotia
2316	FLNA	HP:0001704	Tricuspid valve prolapse
2316	FLNA	HP:0005280	Depressed nasal bridge
2316	FLNA	HP:0000483	Astigmatism
2316	FLNA	HP:0000486	Strabismus
2316	FLNA	HP:0000481	Abnormal cornea morphology
2316	FLNA	HP:0012471	Thick vermilion border
2316	FLNA	HP:0000494	Downslanted palpebral fissures
2316	FLNA	HP:0000472	Long neck
2316	FLNA	HP:0000470	Short neck
2316	FLNA	HP:0001770	Toe syndactyly
2316	FLNA	HP:0000437	Depressed nasal tip
2316	FLNA	HP:0001763	Pes planus
2316	FLNA	HP:0001782	Bulbous tips of toes
2316	FLNA	HP:0000411	Protruding ear
2316	FLNA	HP:0000410	Mixed hearing impairment
2316	FLNA	HP:0001762	Talipes equinovarus
2316	FLNA	HP:0000431	Wide nasal bridge
2316	FLNA	HP:0001761	Pes cavus
2316	FLNA	HP:0005446	Obtuse angle of mandible
2316	FLNA	HP:0001850	Abnormality of the tarsal bones
2316	FLNA	HP:0000518	Cataract
2316	FLNA	HP:0001852	Sandal gap
2316	FLNA	HP:0000520	Proptosis
2316	FLNA	HP:0001838	Rocker bottom foot
2316	FLNA	HP:0000506	Telecanthus
2316	FLNA	HP:0000508	Ptosis
2316	FLNA	HP:0001833	Long foot
2316	FLNA	HP:0001836	Camptodactyly of toe
2316	FLNA	HP:0000501	Glaucoma
2316	FLNA	HP:0001831	Short toe
2316	FLNA	HP:0011246	Underdeveloped superior crus of antihelix
2316	FLNA	HP:0000582	Upslanted palpebral fissure
2316	FLNA	HP:0001892	Abnormal bleeding
2316	FLNA	HP:0011220	Prominent forehead
2316	FLNA	HP:0001863	Toe clinodactyly
2316	FLNA	HP:0001873	Thrombocytopenia
2317	FLNB	HP:0001188	Hand clenching
2317	FLNB	HP:0001156	Brachydactyly
2317	FLNB	HP:0009882	Short distal phalanx of finger
2317	FLNB	HP:0003745	Sporadic
2317	FLNB	HP:0001249	Intellectual disability
2317	FLNB	HP:0001248	Short tubular bones of the hand
2317	FLNB	HP:0001263	Global developmental delay
2317	FLNB	HP:0001234	Hitchhiker thumb
2317	FLNB	HP:0001241	Capitate-hamate fusion
2317	FLNB	HP:0006101	Finger syndactyly
2317	FLNB	HP:0008755	Laryngotracheomalacia
2317	FLNB	HP:0100856	Poorly ossified vertebrae
2317	FLNB	HP:0006060	Tombstone-shaped proximal phalanges
2317	FLNB	HP:0006067	Multiple carpal ossification centers
2317	FLNB	HP:0003865	Bowed humerus
2317	FLNB	HP:0003883	Tapered humerus
2317	FLNB	HP:0001222	Spatulate thumbs
2317	FLNB	HP:0001217	Clubbing
2317	FLNB	HP:0003862	Absent humerus
2317	FLNB	HP:0003826	Stillbirth
2317	FLNB	HP:0003811	Neonatal death
2317	FLNB	HP:0001377	Limited elbow extension
2317	FLNB	HP:0001373	Joint dislocation
2317	FLNB	HP:0001388	Joint laxity
2317	FLNB	HP:0000023	Inguinal hernia
2317	FLNB	HP:0002677	Small foramen magnum
2317	FLNB	HP:0001363	Craniosynostosis
2317	FLNB	HP:0002691	Platybasia
2317	FLNB	HP:0000028	Cryptorchidism
2317	FLNB	HP:0008890	Severe short-limb dwarfism
2317	FLNB	HP:0008873	Disproportionate short-limb short stature
2317	FLNB	HP:0006200	Widened distal phalanges
2317	FLNB	HP:0008857	Neonatal short-trunk short stature
2317	FLNB	HP:0008824	Hypoplastic iliac body
2317	FLNB	HP:0003902	Epiphyseal stippling of the humerus
2317	FLNB	HP:0003994	Dislocated wrist
2317	FLNB	HP:0002656	Epiphyseal dysplasia
2317	FLNB	HP:0000007	Autosomal recessive inheritance
2317	FLNB	HP:0000006	Autosomal dominant inheritance
2317	FLNB	HP:0002650	Scoliosis
2317	FLNB	HP:0003974	Absent radius
2317	FLNB	HP:0002644	Abnormal pelvic girdle bone morphology
2317	FLNB	HP:0008905	Rhizomelia
2317	FLNB	HP:0000175	Cleft palate
2317	FLNB	HP:0006352	Failure of eruption of permanent teeth
2317	FLNB	HP:0005008	Large joint dislocations
2317	FLNB	HP:0006297	Enamel hypoplasia
2317	FLNB	HP:0002780	Bronchomalacia
2317	FLNB	HP:0002779	Tracheomalacia
2317	FLNB	HP:0002777	Tracheal stenosis
2317	FLNB	HP:0000107	Renal cyst
2317	FLNB	HP:0002750	Delayed skeletal maturation
2317	FLNB	HP:0030992	Abnormal pancreatic duct morphology
2317	FLNB	HP:0002007	Frontal bossing
2317	FLNB	HP:0003311	Hypoplasia of the odontoid process
2317	FLNB	HP:0003307	Hyperlordosis
2317	FLNB	HP:0003305	Block vertebrae
2317	FLNB	HP:0003304	Spondylolysis
2317	FLNB	HP:0003319	Abnormality of the cervical spine
2317	FLNB	HP:0004632	Cervical segmentation defect
2317	FLNB	HP:0011800	Midface retrusion
2317	FLNB	HP:0002089	Pulmonary hypoplasia
2317	FLNB	HP:0002084	Encephalocele
2317	FLNB	HP:0002093	Respiratory insufficiency
2317	FLNB	HP:0002091	Restrictive ventilatory defect
2317	FLNB	HP:0008127	Bipartite calcaneus
2317	FLNB	HP:0100569	Abnormally ossified vertebrae
2317	FLNB	HP:0005930	Abnormal epiphysis morphology
2317	FLNB	HP:0005905	Abnormal cervical curvature
2317	FLNB	HP:0005916	Abnormal metacarpal morphology
2317	FLNB	HP:0004785	Malrotation of colon
2317	FLNB	HP:0003440	Horizontal sacrum
2317	FLNB	HP:0003422	Vertebral segmentation defect
2317	FLNB	HP:0003417	Coronal cleft vertebrae
2317	FLNB	HP:0002176	Spinal cord compression
2317	FLNB	HP:0011849	Abnormal bone ossification
2317	FLNB	HP:0003577	Congenital onset
2317	FLNB	HP:0004894	Laryngotracheal stenosis
2317	FLNB	HP:0008417	Vertebral hypoplasia
2317	FLNB	HP:0009702	Carpal synostosis
2317	FLNB	HP:0002280	Enlarged cisterna magna
2317	FLNB	HP:0008368	Tarsal synostosis
2317	FLNB	HP:0003510	Severe short stature
2317	FLNB	HP:0003521	Disproportionate short-trunk short stature
2317	FLNB	HP:0003691	Scapular winging
2317	FLNB	HP:0004976	Knee dislocation
2317	FLNB	HP:0009826	Limb undergrowth
2317	FLNB	HP:0009836	Broad distal phalanx of finger
2317	FLNB	HP:0008456	C2-C3 subluxation
2317	FLNB	HP:0010743	Short metatarsal
2317	FLNB	HP:0008434	Hypoplastic cervical vertebrae
2317	FLNB	HP:0004942	Aortic aneurysm
2317	FLNB	HP:0004209	Clinodactyly of the 5th finger
2317	FLNB	HP:0004232	Accessory carpal bones
2317	FLNB	HP:0005562	Multiple renal cysts
2317	FLNB	HP:0010049	Short metacarpal
2317	FLNB	HP:0011304	Broad thumb
2317	FLNB	HP:0000668	Hypodontia
2317	FLNB	HP:0004322	Short stature
2317	FLNB	HP:0005619	Thoracolumbar kyphosis
2317	FLNB	HP:0003063	Abnormality of the humerus
2317	FLNB	HP:0005692	Joint hyperflexibility
2317	FLNB	HP:0003049	Ulnar deviation of the wrist
2317	FLNB	HP:0003042	Elbow dislocation
2317	FLNB	HP:0003026	Short long bone
2317	FLNB	HP:0009107	Abnormal ossification involving the femoral head and neck
2317	FLNB	HP:0000767	Pectus excavatum
2317	FLNB	HP:0000768	Pectus carinatum
2317	FLNB	HP:0000774	Narrow chest
2317	FLNB	HP:0005736	Short tibia
2317	FLNB	HP:0003196	Short nose
2317	FLNB	HP:0000926	Platyspondyly
2317	FLNB	HP:0003180	Flat acetabular roof
2317	FLNB	HP:0005792	Short humerus
2317	FLNB	HP:0000878	11 pairs of ribs
2317	FLNB	HP:0000890	Long clavicles
2317	FLNB	HP:0003097	Short femur
2317	FLNB	HP:0000824	Decreased response to growth hormone stimulation test
2317	FLNB	HP:0040071	Abnormal morphology of ulna
2317	FLNB	HP:0004568	Beaking of vertebral bodies
2317	FLNB	HP:0003298	Spina bifida occulta
2317	FLNB	HP:0004599	Absent or minimally ossified vertebral bodies
2317	FLNB	HP:0004592	Thoracic platyspondyly
2317	FLNB	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
2317	FLNB	HP:0009381	Short finger
2317	FLNB	HP:0007703	Abnormality of retinal pigmentation
2317	FLNB	HP:0000283	Broad face
2317	FLNB	HP:0001591	Bell-shaped thorax
2317	FLNB	HP:0000272	Malar flattening
2317	FLNB	HP:0000269	Prominent occiput
2317	FLNB	HP:0005104	Hypoplastic nasal septum
2317	FLNB	HP:0006406	Club-shaped proximal femur
2317	FLNB	HP:0006408	Distal tapering femur
2317	FLNB	HP:0002818	Abnormal morphology of the radius
2317	FLNB	HP:0002812	Coxa vara
2317	FLNB	HP:0002827	Hip dislocation
2317	FLNB	HP:0002823	Abnormality of femur morphology
2317	FLNB	HP:0006384	Club-shaped distal femur
2317	FLNB	HP:0000218	High palate
2317	FLNB	HP:0001561	Polyhydramnios
2317	FLNB	HP:0001539	Omphalocele
2317	FLNB	HP:0001538	Protuberant abdomen
2317	FLNB	HP:0000204	Cleft upper lip
2317	FLNB	HP:0001511	Intrauterine growth retardation
2317	FLNB	HP:0000384	Preauricular skin tag
2317	FLNB	HP:0012368	Flat face
2317	FLNB	HP:0005257	Thoracic hypoplasia
2317	FLNB	HP:0001602	Laryngeal stenosis
2317	FLNB	HP:0002948	Vertebral fusion
2317	FLNB	HP:0002949	Fused cervical vertebrae
2317	FLNB	HP:0002947	Cervical kyphosis
2317	FLNB	HP:0006492	Aplasia/Hypoplasia of the fibula
2317	FLNB	HP:0006495	Aplasia/Hypoplasia of the ulna
2317	FLNB	HP:0000365	Hearing impairment
2317	FLNB	HP:0000369	Low-set ears
2317	FLNB	HP:0002999	Patellar dislocation
2317	FLNB	HP:0000347	Micrognathia
2317	FLNB	HP:0002982	Tibial bowing
2317	FLNB	HP:0002983	Micromelia
2317	FLNB	HP:0000316	Hypertelorism
2317	FLNB	HP:0002991	Abnormality of fibula morphology
2317	FLNB	HP:0002992	Abnormality of tibia morphology
2317	FLNB	HP:0002990	Fibular aplasia
2317	FLNB	HP:0000327	Hypoplasia of the maxilla
2317	FLNB	HP:0002986	Radial bowing
2317	FLNB	HP:0001629	Ventricular septal defect
2317	FLNB	HP:0001626	Abnormality of the cardiovascular system
2317	FLNB	HP:0001622	Premature birth
2317	FLNB	HP:0001631	Atrial septal defect
2317	FLNB	HP:0007957	Corneal opacity
2317	FLNB	HP:0007973	Retinal dysplasia
2317	FLNB	HP:0000407	Sensorineural hearing impairment
2317	FLNB	HP:0000405	Conductive hearing impairment
2317	FLNB	HP:0005280	Depressed nasal bridge
2317	FLNB	HP:0000463	Anteverted nares
2317	FLNB	HP:0001789	Hydrops fetalis
2317	FLNB	HP:0000455	Broad nasal tip
2317	FLNB	HP:0000470	Short neck
2317	FLNB	HP:0001799	Short nail
2317	FLNB	HP:0001772	Talipes equinovalgus
2317	FLNB	HP:0001763	Pes planus
2317	FLNB	HP:0000410	Mixed hearing impairment
2317	FLNB	HP:0001762	Talipes equinovarus
2317	FLNB	HP:0000431	Wide nasal bridge
2317	FLNB	HP:0000430	Underdeveloped nasal alae
2317	FLNB	HP:0006703	Aplasia/Hypoplasia of the lungs
2317	FLNB	HP:0000518	Cataract
2317	FLNB	HP:0001852	Sandal gap
2317	FLNB	HP:0000520	Proptosis
2317	FLNB	HP:0000506	Telecanthus
2317	FLNB	HP:0030330	Multinucleated giant chondrocytes in epiphyseal cartilage
2317	FLNB	HP:0000586	Shallow orbits
2317	FLNB	HP:0011220	Prominent forehead
2317	FLNB	HP:0001883	Talipes
2318	FLNC	HP:0003738	Exercise-induced myalgia
2318	FLNC	HP:0003701	Proximal muscle weakness
2318	FLNC	HP:0003715	Myofibrillar myopathy
2318	FLNC	HP:0001297	Stroke
2318	FLNC	HP:0001279	Syncope
2318	FLNC	HP:0001265	Hyporeflexia
2318	FLNC	HP:0002540	Inability to walk
2318	FLNC	HP:0002515	Waddling gait
2318	FLNC	HP:0008897	Postnatal growth retardation
2318	FLNC	HP:0031177	Finger flexor weakness
2318	FLNC	HP:0006135	Decreased finger mobility
2318	FLNC	HP:0001324	Muscle weakness
2318	FLNC	HP:0000006	Autosomal dominant inheritance
2318	FLNC	HP:0002600	Hyporeflexia of lower limbs
2318	FLNC	HP:0008994	Proximal muscle weakness in lower limbs
2318	FLNC	HP:0008959	Distal upper limb muscle weakness
2318	FLNC	HP:0008954	Intrinsic hand muscle atrophy
2318	FLNC	HP:0008944	Distal lower limb amyotrophy
2318	FLNC	HP:0031295	Left atrial enlargement
2318	FLNC	HP:0001430	Abnormality of the calf musculature
2318	FLNC	HP:0002747	Respiratory insufficiency due to muscle weakness
2318	FLNC	HP:0002015	Dysphagia
2318	FLNC	HP:0002094	Dyspnea
2318	FLNC	HP:0002093	Respiratory insufficiency
2318	FLNC	HP:0030950	Pulmonary venous hypertension
2318	FLNC	HP:0011711	Left anterior fascicular block
2318	FLNC	HP:0011713	Left bundle branch block
2318	FLNC	HP:0100598	Pulmonary edema
2318	FLNC	HP:0008180	Mildly elevated creatine kinase
2318	FLNC	HP:0003474	Somatic sensory dysfunction
2318	FLNC	HP:0002141	Gait imbalance
2318	FLNC	HP:0003427	Thenar muscle weakness
2318	FLNC	HP:0004754	Permanent atrial fibrillation
2318	FLNC	HP:0003596	Middle age onset
2318	FLNC	HP:0002240	Hepatomegaly
2318	FLNC	HP:0003584	Late onset
2318	FLNC	HP:0003581	Adult onset
2318	FLNC	HP:0003555	Muscle fiber splitting
2318	FLNC	HP:0003551	Difficulty climbing stairs
2318	FLNC	HP:0002205	Recurrent respiratory infections
2318	FLNC	HP:0002355	Difficulty walking
2318	FLNC	HP:0003677	Slowly progressive
2318	FLNC	HP:0007149	Distal upper limb amyotrophy
2318	FLNC	HP:0003621	Juvenile onset
2318	FLNC	HP:0001907	Thromboembolism
2318	FLNC	HP:0009053	Distal lower limb muscle weakness
2318	FLNC	HP:0009046	Difficulty running
2318	FLNC	HP:0009027	Foot dorsiflexor weakness
2318	FLNC	HP:0000759	Abnormal peripheral nervous system morphology
2318	FLNC	HP:0011463	Childhood onset
2318	FLNC	HP:0011462	Young adult onset
2318	FLNC	HP:0012764	Orthopnea
2318	FLNC	HP:0003198	Myopathy
2318	FLNC	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies
2318	FLNC	HP:0030718	Right atrial enlargement
2318	FLNC	HP:0003236	Elevated circulating creatine kinase concentration
2318	FLNC	HP:0003202	Skeletal muscle atrophy
2318	FLNC	HP:0005115	Supraventricular arrhythmia
2318	FLNC	HP:0005110	Atrial fibrillation
2318	FLNC	HP:0006389	Limited knee flexion
2318	FLNC	HP:0031329	Interstitial cardiac fibrosis
2318	FLNC	HP:0012398	Peripheral edema
2318	FLNC	HP:0030200	Fatiguable weakness of proximal limb muscles
2318	FLNC	HP:0005184	Prolonged QTc interval
2318	FLNC	HP:0005180	Tricuspid regurgitation
2318	FLNC	HP:0005162	Abnormal left ventricular function
2318	FLNC	HP:0001678	Atrioventricular block
2318	FLNC	HP:0001645	Sudden cardiac death
2318	FLNC	HP:0001653	Mitral regurgitation
2318	FLNC	HP:0001626	Abnormality of the cardiovascular system
2318	FLNC	HP:0001639	Hypertrophic cardiomyopathy
2318	FLNC	HP:0001635	Congestive heart failure
2318	FLNC	HP:0001638	Cardiomyopathy
2318	FLNC	HP:0030319	Weakness of facial musculature
2318	FLNC	HP:0012515	Hip flexor weakness
2321	FLT1	HP:0000093	Proteinuria
2321	FLT1	HP:0000077	Abnormality of the kidney
2321	FLT1	HP:0000147	Polycystic ovaries
2321	FLT1	HP:0002027	Abdominal pain
2321	FLT1	HP:0100767	Abnormal placenta morphology
2321	FLT1	HP:0002360	Sleep disturbance
2321	FLT1	HP:0002315	Headache
2321	FLT1	HP:0100651	Type I diabetes mellitus
2321	FLT1	HP:0012622	Chronic kidney disease
2321	FLT1	HP:0001919	Acute kidney injury
2321	FLT1	HP:0000707	Abnormality of the nervous system
2321	FLT1	HP:0004421	Elevated systolic blood pressure
2321	FLT1	HP:0000822	Hypertension
2321	FLT1	HP:0003259	Elevated circulating creatinine concentration
2321	FLT1	HP:0031418	Increased body mass index
2321	FLT1	HP:0005117	Elevated diastolic blood pressure
2321	FLT1	HP:0001518	Small for gestational age
2321	FLT1	HP:0001511	Intrauterine growth retardation
2321	FLT1	HP:0005202	Helicobacter pylori infection
2321	FLT1	HP:0002910	Elevated hepatic transaminase
2321	FLT1	HP:0002960	Autoimmunity
2321	FLT1	HP:0006707	Abnormality of the hepatic vasculature
2321	FLT1	HP:0000504	Abnormality of vision
2321	FLT1	HP:0001873	Thrombocytopenia
2322	FLT3	HP:0010982	Polygenic inheritance
2322	FLT3	HP:0000006	Autosomal dominant inheritance
2322	FLT3	HP:0001428	Somatic mutation
2322	FLT3	HP:0004808	Acute myeloid leukemia
2322	FLT3	HP:0006721	Acute lymphoblastic leukemia
2324	FLT4	HP:0001156	Brachydactyly
2324	FLT4	HP:0009891	Underdeveloped supraorbital ridges
2324	FLT4	HP:0003759	Hypoplasia of lymphatic vessels
2324	FLT4	HP:0007448	Hyperkeratosis over edematous areas
2324	FLT4	HP:0032344	Upslanting toenail
2324	FLT4	HP:0012020	Right aortic arch
2324	FLT4	HP:0000034	Hydrocele testis
2324	FLT4	HP:0000028	Cryptorchidism
2324	FLT4	HP:0001328	Specific learning disability
2324	FLT4	HP:0000006	Autosomal dominant inheritance
2324	FLT4	HP:0002619	Varicose veins
2324	FLT4	HP:0002624	Abnormal venous morphology
2324	FLT4	HP:0003593	Infantile onset
2324	FLT4	HP:0003577	Congenital onset
2324	FLT4	HP:0003550	Predominantly lower limb lymphedema
2324	FLT4	HP:0100797	Toenail dysplasia
2324	FLT4	HP:0100725	Lichenification
2324	FLT4	HP:0001055	Erysipelas
2324	FLT4	HP:0001028	Hemangioma
2324	FLT4	HP:0001004	Lymphedema
2324	FLT4	HP:0001015	Prominent superficial veins
2324	FLT4	HP:0100658	Cellulitis
2324	FLT4	HP:0200058	Angiosarcoma
2324	FLT4	HP:0010741	Pedal edema
2324	FLT4	HP:0004935	Pulmonary artery atresia
2324	FLT4	HP:0031834	Aortopulmonary collateral arteries
2324	FLT4	HP:0004209	Clinodactyly of the 5th finger
2324	FLT4	HP:0001999	Abnormal facial shape
2324	FLT4	HP:0012740	Papilloma
2324	FLT4	HP:0000739	Anxiety
2324	FLT4	HP:0000716	Depression
2324	FLT4	HP:0000708	Atypical behavior
2324	FLT4	HP:0004467	Preauricular pit
2324	FLT4	HP:0011590	Double aortic arch
2324	FLT4	HP:0000962	Hyperkeratosis
2324	FLT4	HP:0008069	Neoplasm of the skin
2324	FLT4	HP:0000286	Epicanthus
2324	FLT4	HP:0000268	Dolichocephaly
2324	FLT4	HP:0005134	Absence of the pulmonary valve
2324	FLT4	HP:0005105	Abnormal nasal morphology
2324	FLT4	HP:0012227	Urethral stricture
2324	FLT4	HP:0000233	Thin vermilion border
2324	FLT4	HP:0001511	Intrauterine growth retardation
2324	FLT4	HP:0000337	Broad forehead
2324	FLT4	HP:0001642	Pulmonic stenosis
2324	FLT4	HP:0001636	Tetralogy of Fallot
2324	FLT4	HP:0005306	Capillary hemangioma
2324	FLT4	HP:0001790	Nonimmune hydrops fetalis
2324	FLT4	HP:0001785	Ankle swelling
2324	FLT4	HP:0000520	Proptosis
2328	FMO3	HP:0008770	Obsessive-compulsive trait
2328	FMO3	HP:0000007	Autosomal recessive inheritance
2328	FMO3	HP:0410020	Fish odor
2328	FMO3	HP:0011999	Paranoia
2328	FMO3	HP:0003614	Trimethylaminuria
2328	FMO3	HP:0001903	Anemia
2328	FMO3	HP:0000739	Anxiety
2328	FMO3	HP:0000716	Depression
2328	FMO3	HP:0000718	Aggressive behavior
2328	FMO3	HP:0000712	Emotional lability
2328	FMO3	HP:0000822	Hypertension
2328	FMO3	HP:0006532	Recurrent pneumonia
2328	FMO3	HP:0031467	Negative affectivity
2328	FMO3	HP:0031469	Low self esteem
2328	FMO3	HP:0001649	Tachycardia
2328	FMO3	HP:0001744	Splenomegaly
2328	FMO3	HP:0001875	Neutropenia
2332	FMR1	HP:0001152	Saccadic smooth pursuit
2332	FMR1	HP:0002457	Abnormal head movements
2332	FMR1	HP:0002442	Dyscalculia
2332	FMR1	HP:0008640	Congenital macroorchidism
2332	FMR1	HP:0100962	Shyness
2332	FMR1	HP:0025160	Abnormal temper tantrums
2332	FMR1	HP:0001272	Cerebellar atrophy
2332	FMR1	HP:0001270	Motor delay
2332	FMR1	HP:0001268	Mental deterioration
2332	FMR1	HP:0001288	Gait disturbance
2332	FMR1	HP:0001256	Intellectual disability, mild
2332	FMR1	HP:0001250	Seizure
2332	FMR1	HP:0001252	Hypotonia
2332	FMR1	HP:0001251	Ataxia
2332	FMR1	HP:0001249	Intellectual disability
2332	FMR1	HP:0001265	Hyporeflexia
2332	FMR1	HP:0001260	Dysarthria
2332	FMR1	HP:0001263	Global developmental delay
2332	FMR1	HP:0008770	Obsessive-compulsive trait
2332	FMR1	HP:0008734	Decreased testicular size
2332	FMR1	HP:0003829	Typified by incomplete penetrance
2332	FMR1	HP:0002506	Diffuse cerebral atrophy
2332	FMR1	HP:0006099	Metacarpophalangeal joint hyperextensibility
2332	FMR1	HP:0001388	Joint laxity
2332	FMR1	HP:0000053	Macroorchidism
2332	FMR1	HP:0000020	Urinary incontinence
2332	FMR1	HP:0000028	Cryptorchidism
2332	FMR1	HP:0001328	Specific learning disability
2332	FMR1	HP:0001324	Muscle weakness
2332	FMR1	HP:0001310	Dysmetria
2332	FMR1	HP:0002650	Scoliosis
2332	FMR1	HP:0002616	Aortic root aneurysm
2332	FMR1	HP:0002615	Hypotension
2332	FMR1	HP:0001300	Parkinsonism
2332	FMR1	HP:0002607	Bowel incontinence
2332	FMR1	HP:0012169	Self-biting
2332	FMR1	HP:0000135	Hypogonadism
2332	FMR1	HP:0001423	X-linked dominant inheritance
2332	FMR1	HP:0002750	Delayed skeletal maturation
2332	FMR1	HP:0001417	X-linked inheritance
2332	FMR1	HP:0002020	Gastroesophageal reflux
2332	FMR1	HP:0002003	Large forehead
2332	FMR1	HP:0003326	Myalgia
2332	FMR1	HP:0002015	Dysphagia
2332	FMR1	HP:0002007	Frontal bossing
2332	FMR1	HP:0002080	Intention tremor
2332	FMR1	HP:0002067	Bradykinesia
2332	FMR1	HP:0002066	Gait ataxia
2332	FMR1	HP:0002063	Rigidity
2332	FMR1	HP:0002075	Dysdiadochokinesis
2332	FMR1	HP:0002050	Macroorchidism, postpubertal
2332	FMR1	HP:0100515	Pollakisuria
2332	FMR1	HP:0002120	Cerebral cortical atrophy
2332	FMR1	HP:0002167	Abnormality of speech or vocalization
2332	FMR1	HP:0002174	Postural tremor
2332	FMR1	HP:0008209	Premature ovarian insufficiency
2332	FMR1	HP:0003584	Late onset
2332	FMR1	HP:0003581	Adult onset
2332	FMR1	HP:0100716	Self-injurious behavior
2332	FMR1	HP:0003564	Folate-dependent fragile site at Xq28
2332	FMR1	HP:0002231	Sparse body hair
2332	FMR1	HP:0007010	Poor fine motor coordination
2332	FMR1	HP:0007018	Attention deficit hyperactivity disorder
2332	FMR1	HP:0002363	Abnormal brainstem morphology
2332	FMR1	HP:0002360	Sleep disturbance
2332	FMR1	HP:0002345	Action tremor
2332	FMR1	HP:0002342	Intellectual disability, moderate
2332	FMR1	HP:0002354	Memory impairment
2332	FMR1	HP:0002322	Resting tremor
2332	FMR1	HP:0009830	Peripheral neuropathy
2332	FMR1	HP:0200055	Small hand
2332	FMR1	HP:0007165	Periventricular heterotopia
2332	FMR1	HP:0004970	Ascending tubular aorta aneurysm
2332	FMR1	HP:0006886	Impaired distal vibration sensation
2332	FMR1	HP:0000639	Nystagmus
2332	FMR1	HP:0001956	Truncal obesity
2332	FMR1	HP:0004322	Short stature
2332	FMR1	HP:0000802	Impotence
2332	FMR1	HP:0000752	Hyperactivity
2332	FMR1	HP:0000771	Gynecomastia
2332	FMR1	HP:0100023	Recurrent hand flapping
2332	FMR1	HP:0000767	Pectus excavatum
2332	FMR1	HP:0000737	Irritability
2332	FMR1	HP:0000739	Anxiety
2332	FMR1	HP:0000734	Disinhibition
2332	FMR1	HP:0000733	Abnormal repetitive mannerisms
2332	FMR1	HP:0000736	Short attention span
2332	FMR1	HP:0000735	Impaired social interactions
2332	FMR1	HP:0000750	Delayed speech and language development
2332	FMR1	HP:0000716	Depression
2332	FMR1	HP:0000718	Aggressive behavior
2332	FMR1	HP:0000717	Autism
2332	FMR1	HP:0000726	Dementia
2332	FMR1	HP:0000729	Autistic behavior
2332	FMR1	HP:0000722	Compulsive behaviors
2332	FMR1	HP:0011463	Childhood onset
2332	FMR1	HP:0000858	Irregular menstruation
2332	FMR1	HP:0000837	Increased circulating gonadotropin level
2332	FMR1	HP:0000836	Hyperthyroidism
2332	FMR1	HP:0000819	Diabetes mellitus
2332	FMR1	HP:0000817	Reduced eye contact
2332	FMR1	HP:0000822	Hypertension
2332	FMR1	HP:0000821	Hypothyroidism
2332	FMR1	HP:0100275	Diffuse cerebellar atrophy
2332	FMR1	HP:0000963	Thin skin
2332	FMR1	HP:0000280	Coarse facial features
2332	FMR1	HP:0000298	Mask-like facies
2332	FMR1	HP:0000256	Macrocephaly
2332	FMR1	HP:0000275	Narrow face
2332	FMR1	HP:0000276	Long face
2332	FMR1	HP:0000246	Sinusitis
2332	FMR1	HP:0000233	Thin vermilion border
2332	FMR1	HP:0001508	Failure to thrive
2332	FMR1	HP:0002839	Urinary bladder sphincter dysfunction
2332	FMR1	HP:0001511	Intrauterine growth retardation
2332	FMR1	HP:0000389	Chronic otitis media
2332	FMR1	HP:0000388	Otitis media
2332	FMR1	HP:0000365	Hearing impairment
2332	FMR1	HP:0012332	Abnormal autonomic nervous system physiology
2332	FMR1	HP:0002960	Autoimmunity
2332	FMR1	HP:0001620	High pitched voice
2332	FMR1	HP:0000303	Mandibular prognathia
2332	FMR1	HP:0001634	Mitral valve prolapse
2332	FMR1	HP:0031629	Impaired tandem gait
2332	FMR1	HP:0000403	Recurrent otitis media
2332	FMR1	HP:0000400	Macrotia
2332	FMR1	HP:0030216	Inertia
2332	FMR1	HP:0000486	Strabismus
2332	FMR1	HP:0000490	Deeply set eye
2332	FMR1	HP:0001773	Short foot
2332	FMR1	HP:0001763	Pes planus
2332	FMR1	HP:0000414	Bulbous nose
2332	FMR1	HP:0000411	Protruding ear
2332	FMR1	HP:0011220	Prominent forehead
2332	FMR1	HP:0012534	Dysesthesia
2334	AFF2	HP:0025116	Fetal distress
2334	AFF2	HP:0009904	Prominent ear helix
2334	AFF2	HP:0001249	Intellectual disability
2334	AFF2	HP:0001328	Specific learning disability
2334	AFF2	HP:0012172	Stereotypical body rocking
2334	AFF2	HP:0001419	X-linked recessive inheritance
2334	AFF2	HP:0100710	Impulsivity
2334	AFF2	HP:0002370	Poor coordination
2334	AFF2	HP:0002312	Clumsiness
2334	AFF2	HP:0004209	Clinodactyly of the 5th finger
2334	AFF2	HP:0011341	Long upper lip
2334	AFF2	HP:0004322	Short stature
2334	AFF2	HP:0000752	Hyperactivity
2334	AFF2	HP:0100023	Recurrent hand flapping
2334	AFF2	HP:0000750	Delayed speech and language development
2334	AFF2	HP:0000718	Aggressive behavior
2334	AFF2	HP:0000713	Agitation
2334	AFF2	HP:0000729	Autistic behavior
2334	AFF2	HP:0000722	Compulsive behaviors
2334	AFF2	HP:0000286	Epicanthus
2334	AFF2	HP:0000256	Macrocephaly
2334	AFF2	HP:0000252	Microcephaly
2334	AFF2	HP:0001511	Intrauterine growth retardation
2334	AFF2	HP:0001609	Hoarse voice
2334	AFF2	HP:0012471	Thick vermilion border
2334	AFF2	HP:0000426	Prominent nasal bridge
2335	FN1	HP:0003774	Stage 5 chronic kidney disease
2335	FN1	HP:0008577	Underfolded helix
2335	FN1	HP:0009896	Abnormal antitragus morphology
2335	FN1	HP:0009882	Short distal phalanx of finger
2335	FN1	HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level
2335	FN1	HP:0100820	Glomerulopathy
2335	FN1	HP:0100864	Short femoral neck
2335	FN1	HP:0002515	Waddling gait
2335	FN1	HP:0000083	Renal insufficiency
2335	FN1	HP:0000093	Proteinuria
2335	FN1	HP:0001376	Limitation of joint mobility
2335	FN1	HP:0003908	Corner fracture of metaphysis
2335	FN1	HP:0002659	Increased susceptibility to fractures
2335	FN1	HP:0002657	Spondylometaphyseal dysplasia
2335	FN1	HP:0001342	Cerebral hemorrhage
2335	FN1	HP:0000006	Autosomal dominant inheritance
2335	FN1	HP:0002650	Scoliosis
2335	FN1	HP:0000164	Abnormality of the dentition
2335	FN1	HP:0000100	Nephrotic syndrome
2335	FN1	HP:0003311	Hypoplasia of the odontoid process
2335	FN1	HP:0003300	Ovoid vertebral bodies
2335	FN1	HP:0004625	Biconvex vertebral bodies
2335	FN1	HP:0100559	Lower limb asymmetry
2335	FN1	HP:0030949	Glomerular deposits
2335	FN1	HP:0004603	Hyperconvex vertebral body endplates
2335	FN1	HP:0003468	Abnormal vertebral morphology
2335	FN1	HP:0011849	Abnormal bone ossification
2335	FN1	HP:0008417	Vertebral hypoplasia
2335	FN1	HP:0003521	Disproportionate short-trunk short stature
2335	FN1	HP:0003677	Slowly progressive
2335	FN1	HP:0009824	Upper limb undergrowth
2335	FN1	HP:0008440	C1-C2 vertebral abnormality
2335	FN1	HP:0010741	Pedal edema
2335	FN1	HP:0009763	Limb pain
2335	FN1	HP:0008422	Vertebral wedging
2335	FN1	HP:0003621	Juvenile onset
2335	FN1	HP:0001966	Abnormal glomerular mesangium morphology
2335	FN1	HP:0004322	Short stature
2335	FN1	HP:0003073	Hypoalbuminemia
2335	FN1	HP:0003026	Short long bone
2335	FN1	HP:0003025	Metaphyseal irregularity
2335	FN1	HP:0004349	Reduced bone mineral density
2335	FN1	HP:0000768	Pectus carinatum
2335	FN1	HP:0011462	Young adult onset
2335	FN1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
2335	FN1	HP:0000926	Platyspondyly
2335	FN1	HP:0000822	Hypertension
2335	FN1	HP:0004586	Biconcave vertebral bodies
2335	FN1	HP:0002812	Coxa vara
2335	FN1	HP:0030084	Clinodactyly
2335	FN1	HP:0006385	Short lower limbs
2335	FN1	HP:0000218	High palate
2335	FN1	HP:0002857	Genu valgum
2335	FN1	HP:0002866	Hypoplastic iliac wing
2335	FN1	HP:0000385	Small earlobe
2335	FN1	HP:0000384	Preauricular skin tag
2335	FN1	HP:0012368	Flat face
2335	FN1	HP:0002938	Lumbar hyperlordosis
2335	FN1	HP:0002948	Vertebral fusion
2335	FN1	HP:0002945	Intervertebral space narrowing
2335	FN1	HP:0002907	Microscopic hematuria
2335	FN1	HP:0031427	Abnormal circulating osteocalcin level
2335	FN1	HP:0000358	Posteriorly rotated ears
2335	FN1	HP:0002982	Tibial bowing
2335	FN1	HP:0000324	Facial asymmetry
2335	FN1	HP:0030162	Glomerulomegaly
2335	FN1	HP:0002970	Genu varum
2335	FN1	HP:0000307	Pointed chin
2335	FN1	HP:0007906	Ocular hypertension
2335	FN1	HP:0000486	Strabismus
2335	FN1	HP:0000470	Short neck
2335	FN1	HP:0000411	Protruding ear
2335	FN1	HP:0000520	Proptosis
2335	FN1	HP:0000505	Visual impairment
2335	FN1	HP:0001891	Iron deficiency anemia
2335	FN1	HP:0000545	Myopia
2348	FOLR1	HP:0001250	Seizure
2348	FOLR1	HP:0001249	Intellectual disability
2348	FOLR1	HP:0000007	Autosomal recessive inheritance
2348	FOLR1	HP:0002180	Neurodegeneration
2348	FOLR1	HP:0002376	Developmental regression
2353	FOS	HP:0001176	Large hands
2353	FOS	HP:0003712	Skeletal muscle hypertrophy
2353	FOS	HP:0001249	Intellectual disability
2353	FOS	HP:0001263	Global developmental delay
2353	FOS	HP:0008665	Clitoral hypertrophy
2353	FOS	HP:0012062	Bone cyst
2353	FOS	HP:0001397	Hepatic steatosis
2353	FOS	HP:0001394	Cirrhosis
2353	FOS	HP:0008887	Adipose tissue loss
2353	FOS	HP:0000158	Macroglossia
2353	FOS	HP:0000141	Amenorrhea
2353	FOS	HP:0000147	Polycystic ovaries
2353	FOS	HP:0010465	Precocious puberty in females
2353	FOS	HP:0002155	Hypertriglyceridemia
2353	FOS	HP:0002162	Low posterior hairline
2353	FOS	HP:0002240	Hepatomegaly
2353	FOS	HP:0001015	Prominent superficial veins
2353	FOS	HP:0001999	Abnormal facial shape
2353	FOS	HP:0005616	Accelerated skeletal maturation
2353	FOS	HP:0011407	Proportionate tall stature
2353	FOS	HP:0009125	Lipodystrophy
2353	FOS	HP:0003124	Hypercholesterolemia
2353	FOS	HP:0030796	Increased C-peptide level
2353	FOS	HP:0000876	Oligomenorrhea
2353	FOS	HP:0000855	Insulin resistance
2353	FOS	HP:0000842	Hyperinsulinemia
2353	FOS	HP:0000819	Diabetes mellitus
2353	FOS	HP:0003247	Overgrowth of external genitalia
2353	FOS	HP:0000998	Hypertrichosis
2353	FOS	HP:0000956	Acanthosis nigricans
2353	FOS	HP:0000294	Low anterior hairline
2353	FOS	HP:0001508	Failure to thrive
2353	FOS	HP:0000336	Prominent supraorbital ridges
2353	FOS	HP:0001639	Hypertrophic cardiomyopathy
2353	FOS	HP:0001635	Congestive heart failure
2353	FOS	HP:0000303	Mandibular prognathia
2353	FOS	HP:0001833	Long foot
2395	FXN	HP:0002495	Impaired vibratory sensation
2395	FXN	HP:0001123	Visual field defect
2395	FXN	HP:0010873	Cervical spinal cord atrophy
2395	FXN	HP:0001251	Ataxia
2395	FXN	HP:0001260	Dysarthria
2395	FXN	HP:0001257	Spasticity
2395	FXN	HP:0002540	Inability to walk
2395	FXN	HP:0002546	Incomprehensible speech
2395	FXN	HP:0002527	Falls
2395	FXN	HP:0002522	Areflexia of lower limbs
2395	FXN	HP:0001332	Dystonia
2395	FXN	HP:0001324	Muscle weakness
2395	FXN	HP:0000007	Autosomal recessive inheritance
2395	FXN	HP:0001310	Dysmetria
2395	FXN	HP:0002650	Scoliosis
2395	FXN	HP:0007663	Reduced visual acuity
2395	FXN	HP:0002015	Dysphagia
2395	FXN	HP:0002080	Intention tremor
2395	FXN	HP:0002066	Gait ataxia
2395	FXN	HP:0003390	Sensory axonal neuropathy
2395	FXN	HP:0002072	Chorea
2395	FXN	HP:0002070	Limb ataxia
2395	FXN	HP:0002141	Gait imbalance
2395	FXN	HP:0003487	Babinski sign
2395	FXN	HP:0003448	Decreased sensory nerve conduction velocity
2395	FXN	HP:0003431	Decreased motor nerve conduction velocity
2395	FXN	HP:0007010	Poor fine motor coordination
2395	FXN	HP:0007078	Decreased amplitude of sensory action potentials
2395	FXN	HP:0010831	Impaired proprioception
2395	FXN	HP:0003621	Juvenile onset
2395	FXN	HP:0000639	Nystagmus
2395	FXN	HP:0000649	Abnormality of visual evoked potentials
2395	FXN	HP:0000648	Optic atrophy
2395	FXN	HP:0000763	Sensory neuropathy
2395	FXN	HP:0009130	Hand muscle atrophy
2395	FXN	HP:0003115	Abnormal EKG
2395	FXN	HP:0000819	Diabetes mellitus
2395	FXN	HP:0003232	Mitochondrial malic enzyme reduced
2395	FXN	HP:0003209	Decreased pyruvate carboxylase activity
2395	FXN	HP:0002839	Urinary bladder sphincter dysfunction
2395	FXN	HP:0030183	Impaired visually enhanced vestibulo-ocular reflex
2395	FXN	HP:0000365	Hearing impairment
2395	FXN	HP:0001626	Abnormality of the cardiovascular system
2395	FXN	HP:0001639	Hypertrophic cardiomyopathy
2395	FXN	HP:0001635	Congestive heart failure
2395	FXN	HP:0001638	Cardiomyopathy
2395	FXN	HP:0001760	Abnormal foot morphology
2395	FXN	HP:0001761	Pes cavus
2395	FXN	HP:0000505	Visual impairment
2395	FXN	HP:0000570	Abnormal saccadic eye movements
2464	FRA16E	HP:0001290	Generalized hypotonia
2464	FRA16E	HP:0001250	Seizure
2464	FRA16E	HP:0001263	Global developmental delay
2464	FRA16E	HP:0001999	Abnormal facial shape
2464	FRA16E	HP:0030680	Abnormality of cardiovascular system morphology
2464	FRA16E	HP:0000750	Delayed speech and language development
2475	MTOR	HP:0025104	Capillary malformation
2475	MTOR	HP:0002446	Astrocytosis
2475	MTOR	HP:0010864	Intellectual disability, severe
2475	MTOR	HP:0009882	Short distal phalanx of finger
2475	MTOR	HP:0010851	EEG with burst suppression
2475	MTOR	HP:0003745	Sporadic
2475	MTOR	HP:0001290	Generalized hypotonia
2475	MTOR	HP:0001273	Abnormal corpus callosum morphology
2475	MTOR	HP:0001269	Hemiparesis
2475	MTOR	HP:0001288	Gait disturbance
2475	MTOR	HP:0001250	Seizure
2475	MTOR	HP:0001252	Hypotonia
2475	MTOR	HP:0001249	Intellectual disability
2475	MTOR	HP:0001263	Global developmental delay
2475	MTOR	HP:0007359	Focal-onset seizure
2475	MTOR	HP:0002539	Cortical dysplasia
2475	MTOR	HP:0025373	Interictal EEG abnormality
2475	MTOR	HP:0000047	Hypospadias
2475	MTOR	HP:0001355	Megalencephaly
2475	MTOR	HP:0000028	Cryptorchidism
2475	MTOR	HP:0006191	Deep palmar crease
2475	MTOR	HP:0001328	Specific learning disability
2475	MTOR	HP:0000006	Autosomal dominant inheritance
2475	MTOR	HP:0001336	Myoclonus
2475	MTOR	HP:0001302	Pachygyria
2475	MTOR	HP:0008905	Rhizomelia
2475	MTOR	HP:0000194	Open mouth
2475	MTOR	HP:0000154	Wide mouth
2475	MTOR	HP:0001428	Somatic mutation
2475	MTOR	HP:0002720	Decreased circulating IgA level
2475	MTOR	HP:0002007	Frontal bossing
2475	MTOR	HP:0011800	Midface retrusion
2475	MTOR	HP:0100543	Cognitive impairment
2475	MTOR	HP:0002099	Asthma
2475	MTOR	HP:0002119	Ventriculomegaly
2475	MTOR	HP:0002133	Status epilepticus
2475	MTOR	HP:0004789	Lactose intolerance
2475	MTOR	HP:0002126	Polymicrogyria
2475	MTOR	HP:0002197	Generalized-onset seizure
2475	MTOR	HP:0002167	Abnormality of speech or vocalization
2475	MTOR	HP:0002171	Gliosis
2475	MTOR	HP:0003593	Infantile onset
2475	MTOR	HP:0003581	Adult onset
2475	MTOR	HP:0002212	Curly hair
2475	MTOR	HP:0002282	Gray matter heterotopia
2475	MTOR	HP:0007042	Focal white matter lesions
2475	MTOR	HP:0011968	Feeding difficulties
2475	MTOR	HP:0032046	Focal cortical dysplasia
2475	MTOR	HP:0032051	Focal cortical dysplasia type II
2475	MTOR	HP:0002384	Focal impaired awareness seizure
2475	MTOR	HP:0001053	Hypopigmented skin patches
2475	MTOR	HP:0002392	EEG with polyspike wave complexes
2475	MTOR	HP:0001028	Hemangioma
2475	MTOR	HP:0007206	Hemimegalencephaly
2475	MTOR	HP:0010819	Atonic seizure
2475	MTOR	HP:0006824	Cranial nerve paralysis
2475	MTOR	HP:0000648	Optic atrophy
2475	MTOR	HP:0001943	Hypoglycemia
2475	MTOR	HP:0012650	Perisylvian polymicrogyria
2475	MTOR	HP:0001999	Abnormal facial shape
2475	MTOR	HP:0001998	Neonatal hypoglycemia
2475	MTOR	HP:0004302	Functional motor deficit
2475	MTOR	HP:0000752	Hyperactivity
2475	MTOR	HP:0000729	Autistic behavior
2475	MTOR	HP:0012757	Abnormal neuron morphology
2475	MTOR	HP:0003196	Short nose
2475	MTOR	HP:0000929	Abnormal skull morphology
2475	MTOR	HP:0010241	Short proximal phalanx of finger
2475	MTOR	HP:0030890	Hyperintensity of cerebral white matter on MRI
2475	MTOR	HP:0000957	Cafe-au-lait spot
2475	MTOR	HP:0000260	Wide anterior fontanel
2475	MTOR	HP:0012246	Oculomotor nerve palsy
2475	MTOR	HP:0000256	Macrocephaly
2475	MTOR	HP:0000267	Cranial asymmetry
2475	MTOR	HP:0000219	Thin upper lip vermilion
2475	MTOR	HP:0001540	Diastasis recti
2475	MTOR	HP:0001537	Umbilical hernia
2475	MTOR	HP:0001538	Protuberant abdomen
2475	MTOR	HP:0001520	Large for gestational age
2475	MTOR	HP:0011097	Epileptic spasm
2475	MTOR	HP:0012393	Allergy
2475	MTOR	HP:0012377	Hemianopia
2475	MTOR	HP:0005257	Thoracic hypoplasia
2475	MTOR	HP:0005266	Intestinal polyp
2475	MTOR	HP:0000343	Long philtrum
2475	MTOR	HP:0000348	High forehead
2475	MTOR	HP:0000319	Smooth philtrum
2475	MTOR	HP:0000316	Hypertelorism
2475	MTOR	HP:0000331	Short chin
2475	MTOR	HP:0011195	EEG with focal sharp slow waves
2475	MTOR	HP:0011193	EEG with focal spikes
2475	MTOR	HP:0011167	Focal tonic seizure
2475	MTOR	HP:0011153	Focal motor seizure
2475	MTOR	HP:0005280	Depressed nasal bridge
2475	MTOR	HP:0000486	Strabismus
2475	MTOR	HP:0000494	Downslanted palpebral fissures
2475	MTOR	HP:0001763	Pes planus
2475	MTOR	HP:0011215	Hemihypsarrhythmia
2475	MTOR	HP:0011220	Prominent forehead
2475	MTOR	HP:0001869	Deep plantar creases
2475	MTOR	HP:0001873	Thrombocytopenia
2483	FRG1	HP:0003724	Shoulder girdle muscle atrophy
2483	FRG1	HP:0001250	Seizure
2483	FRG1	HP:0001249	Intellectual disability
2483	FRG1	HP:0000006	Autosomal dominant inheritance
2483	FRG1	HP:0008981	Calf muscle hypertrophy
2483	FRG1	HP:0008970	Scapulohumeral muscular dystrophy
2483	FRG1	HP:0002015	Dysphagia
2483	FRG1	HP:0003307	Hyperlordosis
2483	FRG1	HP:0100540	Palpebral edema
2483	FRG1	HP:0002091	Restrictive ventilatory defect
2483	FRG1	HP:0003457	EMG abnormality
2483	FRG1	HP:0003547	Shoulder girdle muscle weakness
2483	FRG1	HP:0010628	Facial palsy
2483	FRG1	HP:0003691	Scapular winging
2483	FRG1	HP:0003677	Slowly progressive
2483	FRG1	HP:0009023	Abdominal wall muscle weakness
2483	FRG1	HP:0030664	Beevor's sign
2483	FRG1	HP:0030680	Abnormality of cardiovascular system morphology
2483	FRG1	HP:0011463	Childhood onset
2483	FRG1	HP:0003236	Elevated circulating creatine kinase concentration
2483	FRG1	HP:0003202	Skeletal muscle atrophy
2483	FRG1	HP:0008046	Abnormal retinal vascular morphology
2483	FRG1	HP:0000298	Mask-like facies
2483	FRG1	HP:0007763	Retinal telangiectasia
2483	FRG1	HP:0012231	Exudative retinal detachment
2483	FRG1	HP:0000499	Abnormal eyelash morphology
2483	FRG1	HP:0000407	Sensorineural hearing impairment
2483	FRG1	HP:0012473	Tongue atrophy
2483	FRG1	HP:0000544	External ophthalmoplegia
2487	FRZB	HP:0008843	Hip osteoarthritis
2487	FRZB	HP:0001426	Multifactorial inheritance
2488	FSHB	HP:0008734	Decreased testicular size
2488	FSHB	HP:0000044	Hypogonadotropic hypogonadism
2488	FSHB	HP:0000029	Testicular atrophy
2488	FSHB	HP:0000026	Male hypogonadism
2488	FSHB	HP:0000027	Azoospermia
2488	FSHB	HP:0000007	Autosomal recessive inheritance
2488	FSHB	HP:0000135	Hypogonadism
2488	FSHB	HP:0000134	Female hypogonadism
2488	FSHB	HP:0002750	Delayed skeletal maturation
2488	FSHB	HP:0008213	Gonadotropin deficiency
2488	FSHB	HP:0008214	Decreased serum estradiol
2488	FSHB	HP:0002215	Sparse axillary hair
2488	FSHB	HP:0002225	Sparse pubic hair
2488	FSHB	HP:0011969	Elevated circulating luteinizing hormone level
2488	FSHB	HP:0010791	Hyperplasia of the Leydig cells
2488	FSHB	HP:0011462	Young adult onset
2488	FSHB	HP:0000798	Oligospermia
2488	FSHB	HP:0000789	Infertility
2488	FSHB	HP:0000786	Primary amenorrhea
2488	FSHB	HP:0004408	Abnormality of the sense of smell
2488	FSHB	HP:0003199	Decreased muscle mass
2488	FSHB	HP:0012864	Abnormal sperm morphology
2488	FSHB	HP:0000876	Oligomenorrhea
2488	FSHB	HP:0012814	Bilateral breast hypoplasia
2488	FSHB	HP:0000823	Delayed puberty
2488	FSHB	HP:0040171	Decreased serum testosterone concentration
2488	FSHB	HP:0030018	Decreased female libido
2488	FSHB	HP:0000458	Anosmia
2488	FSHB	HP:0030341	Decreased circulating follicle stimulating hormone concentration
2488	FSHB	HP:0012569	Delayed menarche
2492	FSHR	HP:0001166	Arachnodactyly
2492	FSHR	HP:0009888	Abnormality of secondary sexual hair
2492	FSHR	HP:0001251	Ataxia
2492	FSHR	HP:0007430	Generalized edema
2492	FSHR	HP:0008684	Aplasia/hypoplasia of the uterus
2492	FSHR	HP:0008675	Enlarged polycystic ovaries
2492	FSHR	HP:0000062	Ambiguous genitalia
2492	FSHR	HP:0000007	Autosomal recessive inheritance
2492	FSHR	HP:0000006	Autosomal dominant inheritance
2492	FSHR	HP:0000144	Decreased fertility
2492	FSHR	HP:0000138	Ovarian cyst
2492	FSHR	HP:0000119	Abnormality of the genitourinary system
2492	FSHR	HP:0000133	Gonadal dysgenesis
2492	FSHR	HP:0002750	Delayed skeletal maturation
2492	FSHR	HP:0002018	Nausea
2492	FSHR	HP:0002017	Nausea and vomiting
2492	FSHR	HP:0002027	Abdominal pain
2492	FSHR	HP:0100598	Pulmonary edema
2492	FSHR	HP:0010464	Streak ovary
2492	FSHR	HP:0008209	Premature ovarian insufficiency
2492	FSHR	HP:0008214	Decreased serum estradiol
2492	FSHR	HP:0002225	Sparse pubic hair
2492	FSHR	HP:0002202	Pleural effusion
2492	FSHR	HP:0002206	Pulmonary fibrosis
2492	FSHR	HP:0001007	Hirsutism
2492	FSHR	HP:0003621	Juvenile onset
2492	FSHR	HP:0001939	Abnormality of metabolism/homeostasis
2492	FSHR	HP:0004322	Short stature
2492	FSHR	HP:0005625	Osteoporosis of vertebrae
2492	FSHR	HP:0004349	Reduced bone mineral density
2492	FSHR	HP:0000786	Primary amenorrhea
2492	FSHR	HP:0000869	Secondary amenorrhea
2492	FSHR	HP:0000837	Increased circulating gonadotropin level
2492	FSHR	HP:0000823	Delayed puberty
2492	FSHR	HP:0012886	Hemorrhagic ovarian cyst
2492	FSHR	HP:0003270	Abdominal distention
2492	FSHR	HP:0010311	Aplasia/Hypoplasia of the breasts
2492	FSHR	HP:0000939	Osteoporosis
2492	FSHR	HP:0000938	Osteopenia
2492	FSHR	HP:0030088	Increased serum testosterone level
2492	FSHR	HP:0000252	Microcephaly
2492	FSHR	HP:0030005	Capillary leak
2492	FSHR	HP:0001541	Ascites
2492	FSHR	HP:0012398	Peripheral edema
2492	FSHR	HP:0000365	Hearing impairment
2492	FSHR	HP:0011106	Hypovolemia
2495	FTH1	HP:0032385	Abnormal circulating transferrin concentration
2495	FTH1	HP:0000006	Autosomal dominant inheritance
2495	FTH1	HP:0033144	Abnormal circulating ceruloplasmin concentration
2495	FTH1	HP:0003452	Increased serum iron
2495	FTH1	HP:0003581	Adult onset
2495	FTH1	HP:0010836	Abnormal circulating copper concentration
2495	FTH1	HP:0001903	Anemia
2495	FTH1	HP:0003281	Increased circulating ferritin concentration
2495	FTH1	HP:0012463	Elevated transferrin saturation
2495	FTH1	HP:0012465	Elevated hepatic iron concentration
2512	FTL	HP:0002454	Eye of the tiger anomaly of globus pallidus
2512	FTL	HP:0002425	Anarthria
2512	FTL	HP:0001251	Ataxia
2512	FTL	HP:0001266	Choreoathetosis
2512	FTL	HP:0001260	Dysarthria
2512	FTL	HP:0001257	Spasticity
2512	FTL	HP:0007350	Hyperreflexia in upper limbs
2512	FTL	HP:0012049	Laryngeal dystonia
2512	FTL	HP:0025331	Upgaze palsy
2512	FTL	HP:0001348	Brisk reflexes
2512	FTL	HP:0001347	Hyperreflexia
2512	FTL	HP:0001332	Dystonia
2512	FTL	HP:0000007	Autosomal recessive inheritance
2512	FTL	HP:0001337	Tremor
2512	FTL	HP:0000006	Autosomal dominant inheritance
2512	FTL	HP:0001300	Parkinsonism
2512	FTL	HP:0002015	Dysphagia
2512	FTL	HP:0100543	Cognitive impairment
2512	FTL	HP:0002067	Bradykinesia
2512	FTL	HP:0002063	Rigidity
2512	FTL	HP:0002072	Chorea
2512	FTL	HP:0003487	Babinski sign
2512	FTL	HP:0002134	Abnormal basal ganglia morphology
2512	FTL	HP:0002180	Neurodegeneration
2512	FTL	HP:0002197	Generalized-onset seizure
2512	FTL	HP:0010530	Palatal tremor
2512	FTL	HP:0003596	Middle age onset
2512	FTL	HP:0010693	Pulverulent cataract
2512	FTL	HP:0007007	Cavitation of the basal ganglia
2512	FTL	HP:0002395	Lower limb hyperreflexia
2512	FTL	HP:0003676	Progressive
2512	FTL	HP:0002340	Caudate atrophy
2512	FTL	HP:0002339	Abnormal caudate nucleus morphology
2512	FTL	HP:0002355	Difficulty walking
2512	FTL	HP:0002356	Writer's cramp
2512	FTL	HP:0002322	Resting tremor
2512	FTL	HP:0100660	Dyskinesia
2512	FTL	HP:0007123	Subcortical dementia
2512	FTL	HP:0002300	Mutism
2512	FTL	HP:0002310	Orofacial dyskinesia
2512	FTL	HP:0003621	Juvenile onset
2512	FTL	HP:0000643	Blepharospasm
2512	FTL	HP:0001939	Abnormality of metabolism/homeostasis
2512	FTL	HP:0012696	Abnormal thalamic MRI signal intensity
2512	FTL	HP:0012690	T2 hypointense thalamus
2512	FTL	HP:0012675	Iron accumulation in brain
2512	FTL	HP:0012678	Iron accumulation in substantia nigra
2512	FTL	HP:0031959	Leg dystonia
2512	FTL	HP:0031960	Arm dystonia
2512	FTL	HP:0004305	Involuntary movements
2512	FTL	HP:0031982	Abnormal putamen morphology
2512	FTL	HP:0031908	Micrographia
2512	FTL	HP:0004373	Focal dystonia
2512	FTL	HP:0100018	Nuclear cataract
2512	FTL	HP:0000734	Disinhibition
2512	FTL	HP:0000712	Emotional lability
2512	FTL	HP:0000727	Frontal lobe dementia
2512	FTL	HP:0000726	Dementia
2512	FTL	HP:0000709	Psychosis
2512	FTL	HP:0040130	Abnormal serum iron concentration
2512	FTL	HP:0100321	Abnormal dentate nucleus morphology
2512	FTL	HP:0003281	Increased circulating ferritin concentration
2512	FTL	HP:0040135	Abnormal transferrin saturation
2512	FTL	HP:0001596	Alopecia
2512	FTL	HP:0007772	Impaired smooth pursuit
2512	FTL	HP:0002829	Arthralgia
2512	FTL	HP:0012378	Fatigue
2512	FTL	HP:0001618	Dysphonia
2512	FTL	HP:0002922	Increased CSF protein concentration
2512	FTL	HP:0001686	Loss of voice
2512	FTL	HP:0012343	Decreased circulating ferritin concentration
2512	FTL	HP:0000338	Hypomimic face
2512	FTL	HP:0001621	Weak voice
2512	FTL	HP:0012465	Elevated hepatic iron concentration
2512	FTL	HP:0012452	Restless legs
2512	FTL	HP:0000518	Cataract
2512	FTL	HP:0001808	Fragile nails
2516	NR5A1	HP:0001166	Arachnodactyly
2516	NR5A1	HP:0009888	Abnormality of secondary sexual hair
2516	NR5A1	HP:0001251	Ataxia
2516	NR5A1	HP:0002555	Absent pubic hair
2516	NR5A1	HP:0008726	Hypoplasia of the vagina
2516	NR5A1	HP:0008730	Female external genitalia in individual with 46,XY karyotype
2516	NR5A1	HP:0008734	Decreased testicular size
2516	NR5A1	HP:0008736	Hypoplasia of penis
2516	NR5A1	HP:0008715	Testicular dysgenesis
2516	NR5A1	HP:0008684	Aplasia/hypoplasia of the uterus
2516	NR5A1	HP:0008665	Clitoral hypertrophy
2516	NR5A1	HP:0008669	Abnormal spermatogenesis
2516	NR5A1	HP:0003829	Typified by incomplete penetrance
2516	NR5A1	HP:0000062	Ambiguous genitalia
2516	NR5A1	HP:0000058	Abnormal labia morphology
2516	NR5A1	HP:0000044	Hypogonadotropic hypogonadism
2516	NR5A1	HP:0000046	Small scrotum
2516	NR5A1	HP:0000045	Abnormality of the scrotum
2516	NR5A1	HP:0000037	Male pseudohermaphroditism
2516	NR5A1	HP:0000054	Micropenis
2516	NR5A1	HP:0000048	Bifid scrotum
2516	NR5A1	HP:0000047	Hypospadias
2516	NR5A1	HP:0000022	Abnormal male internal genitalia morphology
2516	NR5A1	HP:0000030	Testicular gonadoblastoma
2516	NR5A1	HP:0000026	Male hypogonadism
2516	NR5A1	HP:0000028	Cryptorchidism
2516	NR5A1	HP:0000027	Azoospermia
2516	NR5A1	HP:0000013	Hypoplasia of the uterus
2516	NR5A1	HP:0000008	Abnormal morphology of female internal genitalia
2516	NR5A1	HP:0002667	Nephroblastoma
2516	NR5A1	HP:0000006	Autosomal dominant inheritance
2516	NR5A1	HP:0025486	Fused labia majora
2516	NR5A1	HP:0000142	Abnormal vagina morphology
2516	NR5A1	HP:0000144	Decreased fertility
2516	NR5A1	HP:0001470	Sex-limited expression
2516	NR5A1	HP:0000150	Gonadoblastoma
2516	NR5A1	HP:0000147	Polycystic ovaries
2516	NR5A1	HP:0000149	Ovarian gonadoblastoma
2516	NR5A1	HP:0000118	Phenotypic abnormality
2516	NR5A1	HP:0000133	Gonadal dysgenesis
2516	NR5A1	HP:0000130	Abnormality of the uterus
2516	NR5A1	HP:0000100	Nephrotic syndrome
2516	NR5A1	HP:0002750	Delayed skeletal maturation
2516	NR5A1	HP:0030974	Cryptozoospermia
2516	NR5A1	HP:0030913	Exaggerated rugosity of the labia majora
2516	NR5A1	HP:0008193	Primary gonadal insufficiency
2516	NR5A1	HP:0008187	Absence of secondary sex characteristics
2516	NR5A1	HP:0010464	Streak ovary
2516	NR5A1	HP:0010459	True hermaphroditism
2516	NR5A1	HP:0008232	Elevated circulating follicle stimulating hormone level
2516	NR5A1	HP:0008209	Premature ovarian insufficiency
2516	NR5A1	HP:0008214	Decreased serum estradiol
2516	NR5A1	HP:0002215	Sparse axillary hair
2516	NR5A1	HP:0002225	Sparse pubic hair
2516	NR5A1	HP:0002206	Pulmonary fibrosis
2516	NR5A1	HP:0100779	Urogenital sinus anomaly
2516	NR5A1	HP:0011969	Elevated circulating luteinizing hormone level
2516	NR5A1	HP:0011961	Non-obstructive azoospermia
2516	NR5A1	HP:0011962	Obstructive azoospermia
2516	NR5A1	HP:0001939	Abnormality of metabolism/homeostasis
2516	NR5A1	HP:0012646	Retractile testis
2516	NR5A1	HP:0004322	Short stature
2516	NR5A1	HP:0005625	Osteoporosis of vertebrae
2516	NR5A1	HP:0030680	Abnormality of cardiovascular system morphology
2516	NR5A1	HP:0000808	Penoscrotal hypospadias
2516	NR5A1	HP:0004349	Reduced bone mineral density
2516	NR5A1	HP:0000771	Gynecomastia
2516	NR5A1	HP:0000798	Oligospermia
2516	NR5A1	HP:0000786	Primary amenorrhea
2516	NR5A1	HP:0012870	Vanishing testis
2516	NR5A1	HP:0012856	Abnormal scrotal rugation
2516	NR5A1	HP:0012861	Ovotestis
2516	NR5A1	HP:0000869	Secondary amenorrhea
2516	NR5A1	HP:0000868	Decreased fertility in females
2516	NR5A1	HP:0000837	Increased circulating gonadotropin level
2516	NR5A1	HP:0000846	Adrenal insufficiency
2516	NR5A1	HP:0000815	Hypergonadotropic hypogonadism
2516	NR5A1	HP:0000812	Abnormal internal genitalia
2516	NR5A1	HP:0000823	Delayed puberty
2516	NR5A1	HP:0003251	Male infertility
2516	NR5A1	HP:0010311	Aplasia/Hypoplasia of the breasts
2516	NR5A1	HP:0000939	Osteoporosis
2516	NR5A1	HP:0000938	Osteopenia
2516	NR5A1	HP:0040171	Decreased serum testosterone concentration
2516	NR5A1	HP:0012244	Abnormal sex determination
2516	NR5A1	HP:0012245	Sex reversal
2516	NR5A1	HP:0000252	Microcephaly
2516	NR5A1	HP:0000365	Hearing impairment
2517	FUCA1	HP:0007256	Abnormal pyramidal sign
2517	FUCA1	HP:0010864	Intellectual disability, severe
2517	FUCA1	HP:0001271	Polyneuropathy
2517	FUCA1	HP:0001250	Seizure
2517	FUCA1	HP:0001252	Hypotonia
2517	FUCA1	HP:0001249	Intellectual disability
2517	FUCA1	HP:0001263	Global developmental delay
2517	FUCA1	HP:0001257	Spasticity
2517	FUCA1	HP:0002510	Spastic tetraplegia
2517	FUCA1	HP:0012067	Glycopeptiduria
2517	FUCA1	HP:0001371	Flexion contracture
2517	FUCA1	HP:0001348	Brisk reflexes
2517	FUCA1	HP:0001332	Dystonia
2517	FUCA1	HP:0001324	Muscle weakness
2517	FUCA1	HP:0002673	Coxa valga
2517	FUCA1	HP:0000007	Autosomal recessive inheritance
2517	FUCA1	HP:0002650	Scoliosis
2517	FUCA1	HP:0000179	Thick lower lip vermilion
2517	FUCA1	HP:0000164	Abnormality of the dentition
2517	FUCA1	HP:0000158	Macroglossia
2517	FUCA1	HP:0002007	Frontal bossing
2517	FUCA1	HP:0004630	Anterior beaking of thoracic vertebrae
2517	FUCA1	HP:0002064	Spastic gait
2517	FUCA1	HP:0002059	Cerebral atrophy
2517	FUCA1	HP:0100578	Lipoatrophy
2517	FUCA1	HP:0008155	Mucopolysacchariduria
2517	FUCA1	HP:0010471	Oligosacchariduria
2517	FUCA1	HP:0003593	Infantile onset
2517	FUCA1	HP:0002240	Hepatomegaly
2517	FUCA1	HP:0002205	Recurrent respiratory infections
2517	FUCA1	HP:0100790	Hernia
2517	FUCA1	HP:0001063	Acrocyanosis
2517	FUCA1	HP:0002376	Developmental regression
2517	FUCA1	HP:0001014	Angiokeratoma
2517	FUCA1	HP:0008430	Anterior beaking of lumbar vertebrae
2517	FUCA1	HP:0008436	Absent/hypoplastic coccyx
2517	FUCA1	HP:0004298	Abnormality of the abdominal wall
2517	FUCA1	HP:0005595	Generalized hyperkeratosis
2517	FUCA1	HP:0001922	Vacuolated lymphocytes
2517	FUCA1	HP:0001999	Abnormal facial shape
2517	FUCA1	HP:0004322	Short stature
2517	FUCA1	HP:0003199	Decreased muscle mass
2517	FUCA1	HP:0000914	Shield chest
2517	FUCA1	HP:0000821	Hypothyroidism
2517	FUCA1	HP:0004558	Cervical platyspondyly
2517	FUCA1	HP:0000975	Hyperhidrosis
2517	FUCA1	HP:0000958	Dry skin
2517	FUCA1	HP:0000970	Anhidrosis
2517	FUCA1	HP:0000943	Dysostosis multiplex
2517	FUCA1	HP:0000280	Coarse facial features
2517	FUCA1	HP:0001597	Abnormality of the nail
2517	FUCA1	HP:0012236	Elevated sweat chloride
2517	FUCA1	HP:0002808	Kyphosis
2517	FUCA1	HP:0000240	Abnormality of skull size
2517	FUCA1	HP:0000248	Brachycephaly
2517	FUCA1	HP:0001552	Barrel-shaped chest
2517	FUCA1	HP:0001508	Failure to thrive
2517	FUCA1	HP:0005264	Abnormality of the gallbladder
2517	FUCA1	HP:0002938	Lumbar hyperlordosis
2517	FUCA1	HP:0000365	Hearing impairment
2517	FUCA1	HP:0000316	Hypertelorism
2517	FUCA1	HP:0001626	Abnormality of the cardiovascular system
2517	FUCA1	HP:0001640	Cardiomegaly
2517	FUCA1	HP:0007957	Corneal opacity
2517	FUCA1	HP:0000445	Wide nose
2517	FUCA1	HP:0001744	Splenomegaly
2517	FUCA1	HP:0011276	Vascular skin abnormality
2517	FUCA1	HP:0005453	Absent/hypoplastic paranasal sinuses
2517	FUCA1	HP:0000503	Tortuosity of conjunctival vessels
2517	FUCA1	HP:0011220	Prominent forehead
2517	FUCA1	HP:0000574	Thick eyebrow
2521	FUS	HP:0002483	Bulbar signs
2521	FUS	HP:0002460	Distal muscle weakness
2521	FUS	HP:0002442	Dyscalculia
2521	FUS	HP:0008619	Bilateral sensorineural hearing impairment
2521	FUS	HP:0002425	Anarthria
2521	FUS	HP:0003722	Neck flexor weakness
2521	FUS	HP:0003701	Proximal muscle weakness
2521	FUS	HP:0003700	Generalized amyotrophy
2521	FUS	HP:0001276	Hypertonia
2521	FUS	HP:0002599	Head titubation
2521	FUS	HP:0001288	Gait disturbance
2521	FUS	HP:0001283	Bulbar palsy
2521	FUS	HP:0001251	Ataxia
2521	FUS	HP:0002579	Gastrointestinal dysmotility
2521	FUS	HP:0001265	Hyporeflexia
2521	FUS	HP:0001264	Spastic diplegia
2521	FUS	HP:0001260	Dysarthria
2521	FUS	HP:0001263	Global developmental delay
2521	FUS	HP:0001257	Spasticity
2521	FUS	HP:0007373	Motor neuron atrophy
2521	FUS	HP:0007354	Amyotrophic lateral sclerosis
2521	FUS	HP:0002540	Inability to walk
2521	FUS	HP:0002544	Retrocollis
2521	FUS	HP:0002530	Axial dystonia
2521	FUS	HP:0002529	Neuronal loss in central nervous system
2521	FUS	HP:0012048	Oromandibular dystonia
2521	FUS	HP:0000020	Urinary incontinence
2521	FUS	HP:0001348	Brisk reflexes
2521	FUS	HP:0001332	Dystonia
2521	FUS	HP:0001324	Muscle weakness
2521	FUS	HP:0000006	Autosomal dominant inheritance
2521	FUS	HP:0002650	Scoliosis
2521	FUS	HP:0001317	Abnormal cerebellum morphology
2521	FUS	HP:0001300	Parkinsonism
2521	FUS	HP:0001482	Subcutaneous nodule
2521	FUS	HP:0025425	Laryngospasm
2521	FUS	HP:0002795	Abnormal respiratory system physiology
2521	FUS	HP:0002017	Nausea and vomiting
2521	FUS	HP:0002027	Abdominal pain
2521	FUS	HP:0002015	Dysphagia
2521	FUS	HP:0003324	Generalized muscle weakness
2521	FUS	HP:0100543	Cognitive impairment
2521	FUS	HP:0002094	Dyspnea
2521	FUS	HP:0003394	Muscle spasm
2521	FUS	HP:0002061	Lower limb spasticity
2521	FUS	HP:0002072	Chorea
2521	FUS	HP:0002073	Progressive cerebellar ataxia
2521	FUS	HP:0002071	Abnormality of extrapyramidal motor function
2521	FUS	HP:0002145	Frontotemporal dementia
2521	FUS	HP:0003470	Paralysis
2521	FUS	HP:0003487	Babinski sign
2521	FUS	HP:0002127	Abnormal upper motor neuron morphology
2521	FUS	HP:0003429	CNS hypomyelination
2521	FUS	HP:0002186	Apraxia
2521	FUS	HP:0002180	Neurodegeneration
2521	FUS	HP:0002169	Clonus
2521	FUS	HP:0002167	Abnormality of speech or vocalization
2521	FUS	HP:0002179	Opisthotonus
2521	FUS	HP:0002174	Postural tremor
2521	FUS	HP:0002171	Gliosis
2521	FUS	HP:0010549	Weakness due to upper motor neuron dysfunction
2521	FUS	HP:0002273	Tetraparesis
2521	FUS	HP:0002283	Global brain atrophy
2521	FUS	HP:0008322	Abnormal mitochondrial morphology
2521	FUS	HP:0002385	Paraparesis
2521	FUS	HP:0002380	Fasciculations
2521	FUS	HP:0002366	Abnormal lower motor neuron morphology
2521	FUS	HP:0003693	Distal amyotrophy
2521	FUS	HP:0002345	Action tremor
2521	FUS	HP:0002355	Difficulty walking
2521	FUS	HP:0002314	Degeneration of the lateral corticospinal tracts
2521	FUS	HP:0007126	Proximal amyotrophy
2521	FUS	HP:0002300	Mutism
2521	FUS	HP:0007190	Neuronal loss in the cerebral cortex
2521	FUS	HP:0000639	Nystagmus
2521	FUS	HP:0000605	Supranuclear gaze palsy
2521	FUS	HP:0006986	Upper limb spasticity
2521	FUS	HP:0004326	Cachexia
2521	FUS	HP:0031960	Arm dystonia
2521	FUS	HP:0031936	Delayed ability to walk
2521	FUS	HP:0000738	Hallucinations
2521	FUS	HP:0000739	Anxiety
2521	FUS	HP:0000734	Disinhibition
2521	FUS	HP:0000741	Apathy
2521	FUS	HP:0000716	Depression
2521	FUS	HP:0000712	Emotional lability
2521	FUS	HP:0000713	Agitation
2521	FUS	HP:0000708	Atypical behavior
2521	FUS	HP:0011471	Gastrostomy tube feeding in infancy
2521	FUS	HP:0005750	Lower-limb joint contracture
2521	FUS	HP:0100360	Upper-limb joint contracture
2521	FUS	HP:0003202	Skeletal muscle atrophy
2521	FUS	HP:0100295	Muscle fiber atrophy
2521	FUS	HP:0000252	Microcephaly
2521	FUS	HP:0000217	Xerostomia
2521	FUS	HP:0002878	Respiratory failure
2521	FUS	HP:0030051	Tip-toe gait
2521	FUS	HP:0012378	Fatigue
2521	FUS	HP:0030196	Fatigable weakness of respiratory muscles
2521	FUS	HP:0030195	Fatigable weakness of swallowing muscles
2521	FUS	HP:0030192	Fatigable weakness of bulbar muscles
2521	FUS	HP:0030223	Manifestations of perseverative thought or action
2521	FUS	HP:0000508	Ptosis
2521	FUS	HP:0012531	Pain
2530	FUT8	HP:0001250	Seizure
2530	FUT8	HP:0001252	Hypotonia
2530	FUT8	HP:0001249	Intellectual disability
2530	FUT8	HP:0000007	Autosomal recessive inheritance
2530	FUT8	HP:0000121	Nephrocalcinosis
2530	FUT8	HP:0002783	Recurrent lower respiratory tract infections
2530	FUT8	HP:0002751	Kyphoscoliosis
2530	FUT8	HP:0003577	Congenital onset
2530	FUT8	HP:0011968	Feeding difficulties
2530	FUT8	HP:0001007	Hirsutism
2530	FUT8	HP:0009826	Limb undergrowth
2530	FUT8	HP:0001943	Hypoglycemia
2530	FUT8	HP:0011344	Severe global developmental delay
2530	FUT8	HP:0004322	Short stature
2530	FUT8	HP:0003196	Short nose
2530	FUT8	HP:0000821	Hypothyroidism
2530	FUT8	HP:0034392	Joint contracture
2530	FUT8	HP:0000938	Osteopenia
2530	FUT8	HP:0000278	Retrognathia
2530	FUT8	HP:0002827	Hip dislocation
2530	FUT8	HP:0000252	Microcephaly
2530	FUT8	HP:0000218	High palate
2530	FUT8	HP:0001561	Polyhydramnios
2530	FUT8	HP:0001508	Failure to thrive
2530	FUT8	HP:0001511	Intrauterine growth retardation
2530	FUT8	HP:0000341	Narrow forehead
2530	FUT8	HP:0000337	Broad forehead
2530	FUT8	HP:0000348	High forehead
2530	FUT8	HP:0001643	Patent ductus arteriosus
2530	FUT8	HP:0001631	Atrial septal defect
2530	FUT8	HP:0000431	Wide nasal bridge
2530	FUT8	HP:0000501	Glaucoma
2530	FUT8	HP:0000557	Buphthalmos
2530	FUT8	HP:0001875	Neutropenia
2531	KDSR	HP:0001182	Tapered finger
2531	KDSR	HP:0001156	Brachydactyly
2531	KDSR	HP:0001249	Intellectual disability
2531	KDSR	HP:0007400	Irregular hyperpigmentation
2531	KDSR	HP:0000035	Abnormal testis morphology
2531	KDSR	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
2531	KDSR	HP:0000007	Autosomal recessive inheritance
2531	KDSR	HP:0003577	Congenital onset
2531	KDSR	HP:0002230	Generalized hirsutism
2531	KDSR	HP:0001034	Hypermelanotic macule
2531	KDSR	HP:0025092	Epidermal acanthosis
2531	KDSR	HP:0200035	Skin plaque
2531	KDSR	HP:0010783	Erythema
2531	KDSR	HP:0005588	Patchy palmoplantar hyperkeratosis
2531	KDSR	HP:0004322	Short stature
2531	KDSR	HP:0030680	Abnormality of cardiovascular system morphology
2531	KDSR	HP:0012733	Macule
2531	KDSR	HP:0000819	Diabetes mellitus
2531	KDSR	HP:0000972	Palmoplantar hyperkeratosis
2531	KDSR	HP:0000992	Cutaneous photosensitivity
2531	KDSR	HP:0000988	Skin rash
2531	KDSR	HP:0000982	Palmoplantar keratoderma
2531	KDSR	HP:0000958	Dry skin
2531	KDSR	HP:0000962	Hyperkeratosis
2531	KDSR	HP:0008066	Abnormal blistering of the skin
2531	KDSR	HP:0008069	Neoplasm of the skin
2531	KDSR	HP:0001595	Abnormal hair morphology
2531	KDSR	HP:0001597	Abnormality of the nail
2531	KDSR	HP:0001596	Alopecia
2531	KDSR	HP:0000252	Microcephaly
2531	KDSR	HP:0000365	Hearing impairment
2531	KDSR	HP:0007957	Corneal opacity
2531	KDSR	HP:0000411	Protruding ear
2531	KDSR	HP:0000518	Cataract
2531	KDSR	HP:0001824	Weight loss
2531	KDSR	HP:0000501	Glaucoma
2533	FYB1	HP:0000007	Autosomal recessive inheritance
2533	FYB1	HP:0012143	Abnormal megakaryocyte morphology
2533	FYB1	HP:0005537	Decreased mean platelet volume
2533	FYB1	HP:0000967	Petechiae
2533	FYB1	HP:0000421	Epistaxis
2533	FYB1	HP:0001873	Thrombocytopenia
2535	FZD2	HP:0001156	Brachydactyly
2535	FZD2	HP:0003762	Uterus didelphys
2535	FZD2	HP:0001249	Intellectual disability
2535	FZD2	HP:0001263	Global developmental delay
2535	FZD2	HP:0006101	Finger syndactyly
2535	FZD2	HP:0008736	Hypoplasia of penis
2535	FZD2	HP:0000066	Labial hypoplasia
2535	FZD2	HP:0000062	Ambiguous genitalia
2535	FZD2	HP:0000064	Hypoplastic labia minora
2535	FZD2	HP:0000060	Clitoral hypoplasia
2535	FZD2	HP:0000059	Hypoplastic labia majora
2535	FZD2	HP:0000036	Abnormal penis morphology
2535	FZD2	HP:0000039	Epispadias
2535	FZD2	HP:0000054	Micropenis
2535	FZD2	HP:0001385	Hip dysplasia
2535	FZD2	HP:0000048	Bifid scrotum
2535	FZD2	HP:0000047	Hypospadias
2535	FZD2	HP:0000023	Inguinal hernia
2535	FZD2	HP:0000028	Cryptorchidism
2535	FZD2	HP:0001328	Specific learning disability
2535	FZD2	HP:0002673	Coxa valga
2535	FZD2	HP:0000006	Autosomal dominant inheritance
2535	FZD2	HP:0002650	Scoliosis
2535	FZD2	HP:0008905	Rhizomelia
2535	FZD2	HP:0000175	Cleft palate
2535	FZD2	HP:0000168	Abnormality of the gingiva
2535	FZD2	HP:0005025	Hypoplastic distal humeri
2535	FZD2	HP:0007665	Curly eyelashes
2535	FZD2	HP:0002705	High, narrow palate
2535	FZD2	HP:0002714	Downturned corners of mouth
2535	FZD2	HP:0002020	Gastroesophageal reflux
2535	FZD2	HP:0002007	Frontal bossing
2535	FZD2	HP:0003312	Abnormal form of the vertebral bodies
2535	FZD2	HP:0011800	Midface retrusion
2535	FZD2	HP:0100541	Femoral hernia
2535	FZD2	HP:0100490	Camptodactyly of finger
2535	FZD2	HP:0003577	Congenital onset
2535	FZD2	HP:0008402	Ridged fingernail
2535	FZD2	HP:0100798	Fingernail dysplasia
2535	FZD2	HP:0011968	Feeding difficulties
2535	FZD2	HP:0003510	Severe short stature
2535	FZD2	HP:0004991	Rhizomelic arm shortening
2535	FZD2	HP:0008501	Median cleft lip and palate
2535	FZD2	HP:0010804	Tented upper lip vermilion
2535	FZD2	HP:0010807	Open bite
2535	FZD2	HP:0001076	Glabellar hemangioma
2535	FZD2	HP:0010733	Naevus flammeus of the eyelid
2535	FZD2	HP:0004209	Clinodactyly of the 5th finger
2535	FZD2	HP:0004279	Short palm
2535	FZD2	HP:0000637	Long palpebral fissure
2535	FZD2	HP:0010034	Short 1st metacarpal
2535	FZD2	HP:0000674	Anodontia
2535	FZD2	HP:0000677	Oligodontia
2535	FZD2	HP:0000668	Hypodontia
2535	FZD2	HP:0004322	Short stature
2535	FZD2	HP:0003083	Dislocated radial head
2535	FZD2	HP:0003038	Fibular hypoplasia
2535	FZD2	HP:0003042	Elbow dislocation
2535	FZD2	HP:0000767	Pectus excavatum
2535	FZD2	HP:0000768	Pectus carinatum
2535	FZD2	HP:0005743	Avascular necrosis of the capital femoral epiphysis
2535	FZD2	HP:0012905	Euryblepharon
2535	FZD2	HP:0003196	Short nose
2535	FZD2	HP:0005792	Short humerus
2535	FZD2	HP:0100336	Bilateral cleft lip
2535	FZD2	HP:0010297	Bifid tongue
2535	FZD2	HP:0040036	Onychogryposis of fingernail
2535	FZD2	HP:0004573	Anterior wedging of T11
2535	FZD2	HP:0000960	Sacral dimple
2535	FZD2	HP:0000286	Epicanthus
2535	FZD2	HP:0000278	Retrognathia
2535	FZD2	HP:0001596	Alopecia
2535	FZD2	HP:0000256	Macrocephaly
2535	FZD2	HP:0000272	Malar flattening
2535	FZD2	HP:0006429	Broad femoral neck
2535	FZD2	HP:0002812	Coxa vara
2535	FZD2	HP:0002827	Hip dislocation
2535	FZD2	HP:0005060	Limited elbow flexion/extension
2535	FZD2	HP:0006376	Limited elbow flexion
2535	FZD2	HP:0000212	Gingival overgrowth
2535	FZD2	HP:0030016	Dyspareunia
2535	FZD2	HP:0001537	Umbilical hernia
2535	FZD2	HP:0011069	Supernumerary tooth
2535	FZD2	HP:0000396	Overfolded helix
2535	FZD2	HP:0002937	Hemivertebrae
2535	FZD2	HP:0000365	Hearing impairment
2535	FZD2	HP:0000358	Posteriorly rotated ears
2535	FZD2	HP:0000369	Low-set ears
2535	FZD2	HP:0000343	Long philtrum
2535	FZD2	HP:0002999	Patellar dislocation
2535	FZD2	HP:0000347	Micrognathia
2535	FZD2	HP:0002983	Micromelia
2535	FZD2	HP:0000316	Hypertelorism
2535	FZD2	HP:0000322	Short philtrum
2535	FZD2	HP:0005306	Capillary hemangioma
2535	FZD2	HP:0000403	Recurrent otitis media
2535	FZD2	HP:0005280	Depressed nasal bridge
2535	FZD2	HP:0000486	Strabismus
2535	FZD2	HP:0000494	Downslanted palpebral fissures
2535	FZD2	HP:0000463	Anteverted nares
2535	FZD2	HP:0000456	Bifid nasal tip
2535	FZD2	HP:0000470	Short neck
2535	FZD2	HP:0000445	Wide nose
2535	FZD2	HP:0000431	Wide nasal bridge
2535	FZD2	HP:0000527	Long eyelashes
2535	FZD2	HP:0000520	Proptosis
2535	FZD2	HP:0000508	Ptosis
2535	FZD2	HP:0000582	Upslanted palpebral fissure
2535	FZD2	HP:0000592	Blue sclerae
2535	FZD2	HP:0011220	Prominent forehead
2538	G6PC1	HP:0001114	Xanthelasma
2538	G6PC1	HP:0000097	Focal segmental glomerulosclerosis
2538	G6PC1	HP:0000093	Proteinuria
2538	G6PC1	HP:0000007	Autosomal recessive inheritance
2538	G6PC1	HP:0000105	Enlarged kidney
2538	G6PC1	HP:0001402	Hepatocellular carcinoma
2538	G6PC1	HP:0002149	Hyperuricemia
2538	G6PC1	HP:0003593	Infantile onset
2538	G6PC1	HP:0002240	Hepatomegaly
2538	G6PC1	HP:0002254	Intermittent diarrhea
2538	G6PC1	HP:0001943	Hypoglycemia
2538	G6PC1	HP:0000660	Lipemia retinalis
2538	G6PC1	HP:0001997	Gout
2538	G6PC1	HP:0004322	Short stature
2538	G6PC1	HP:0003077	Hyperlipidemia
2538	G6PC1	HP:0011463	Childhood onset
2538	G6PC1	HP:0000787	Nephrolithiasis
2538	G6PC1	HP:0003199	Decreased muscle mass
2538	G6PC1	HP:0003162	Fasting hypoglycemia
2538	G6PC1	HP:0003128	Lactic acidosis
2538	G6PC1	HP:0000822	Hypertension
2538	G6PC1	HP:0000823	Delayed puberty
2538	G6PC1	HP:0000991	Xanthomatosis
2538	G6PC1	HP:0000939	Osteoporosis
2538	G6PC1	HP:0000295	Doll-like facies
2538	G6PC1	HP:0012213	Decreased glomerular filtration rate
2538	G6PC1	HP:0001538	Protuberant abdomen
2538	G6PC1	HP:0001510	Growth delay
2538	G6PC1	HP:0002910	Elevated hepatic transaminase
2538	G6PC1	HP:0001733	Pancreatitis
2538	G6PC1	HP:0001892	Abnormal bleeding
2539	G6PD	HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood
2539	G6PD	HP:0001423	X-linked dominant inheritance
2539	G6PD	HP:0002027	Abdominal pain
2539	G6PD	HP:0008282	Unconjugated hyperbilirubinemia
2539	G6PD	HP:0003596	Middle age onset
2539	G6PD	HP:0003593	Infantile onset
2539	G6PD	HP:0003577	Congenital onset
2539	G6PD	HP:0020082	Heinz bodies
2539	G6PD	HP:0004814	Fava bean-induced hemolytic anemia
2539	G6PD	HP:0003641	Hemoglobinuria
2539	G6PD	HP:0003621	Juvenile onset
2539	G6PD	HP:0001974	Leukocytosis
2539	G6PD	HP:0001945	Fever
2539	G6PD	HP:0001923	Reticulocytosis
2539	G6PD	HP:0011463	Childhood onset
2539	G6PD	HP:0011462	Young adult onset
2539	G6PD	HP:0004447	Poikilocytosis
2539	G6PD	HP:0000980	Pallor
2539	G6PD	HP:0000952	Jaundice
2539	G6PD	HP:0006579	Prolonged neonatal jaundice
2539	G6PD	HP:0001744	Splenomegaly
2539	G6PD	HP:0011273	Anisocytosis
2542	SLC37A4	HP:0003774	Stage 5 chronic kidney disease
2542	SLC37A4	HP:0001114	Xanthelasma
2542	SLC37A4	HP:0410175	Hyperketonemia
2542	SLC37A4	HP:0410252	Chronic neutropenia
2542	SLC37A4	HP:0001270	Motor delay
2542	SLC37A4	HP:0001252	Hypotonia
2542	SLC37A4	HP:0001263	Global developmental delay
2542	SLC37A4	HP:0010974	Abnormal myeloid leukocyte morphology
2542	SLC37A4	HP:0000083	Renal insufficiency
2542	SLC37A4	HP:0000097	Focal segmental glomerulosclerosis
2542	SLC37A4	HP:0000093	Proteinuria
2542	SLC37A4	HP:0001397	Hepatic steatosis
2542	SLC37A4	HP:0012028	Hepatocellular adenoma
2542	SLC37A4	HP:0000023	Inguinal hernia
2542	SLC37A4	HP:0002659	Increased susceptibility to fractures
2542	SLC37A4	HP:0000007	Autosomal recessive inheritance
2542	SLC37A4	HP:0000006	Autosomal dominant inheritance
2542	SLC37A4	HP:0002650	Scoliosis
2542	SLC37A4	HP:0031141	Increased hepatic echogenicity
2542	SLC37A4	HP:0012146	Abnormality of von Willebrand factor
2542	SLC37A4	HP:0000155	Oral ulcer
2542	SLC37A4	HP:0000147	Polycystic ovaries
2542	SLC37A4	HP:0006280	Chronic pancreatitis
2542	SLC37A4	HP:0000121	Nephrocalcinosis
2542	SLC37A4	HP:0000132	Menorrhagia
2542	SLC37A4	HP:0002788	Recurrent upper respiratory tract infections
2542	SLC37A4	HP:0000105	Enlarged kidney
2542	SLC37A4	HP:0001408	Bile duct proliferation
2542	SLC37A4	HP:0001402	Hepatocellular carcinoma
2542	SLC37A4	HP:0002718	Recurrent bacterial infections
2542	SLC37A4	HP:0002020	Gastroesophageal reflux
2542	SLC37A4	HP:0002037	Inflammation of the large intestine
2542	SLC37A4	HP:0002014	Diarrhea
2542	SLC37A4	HP:0002013	Vomiting
2542	SLC37A4	HP:0100543	Cognitive impairment
2542	SLC37A4	HP:0002092	Pulmonary arterial hypertension
2542	SLC37A4	HP:0030948	Elevated gamma-glutamyltransferase level
2542	SLC37A4	HP:0030950	Pulmonary venous hypertension
2542	SLC37A4	HP:0100512	Low levels of vitamin D
2542	SLC37A4	HP:0040289	Cyclic neutropenia
2542	SLC37A4	HP:0008169	Reduced factor VII activity
2542	SLC37A4	HP:0008151	Prolonged prothrombin time
2542	SLC37A4	HP:0002155	Hypertriglyceridemia
2542	SLC37A4	HP:0002149	Hyperuricemia
2542	SLC37A4	HP:0011900	Hypofibrinogenemia
2542	SLC37A4	HP:0002173	Hypoglycemic seizures
2542	SLC37A4	HP:0011889	Bleeding with minor or no trauma
2542	SLC37A4	HP:0011890	Prolonged bleeding following procedure
2542	SLC37A4	HP:0011858	Reduced factor IX activity
2542	SLC37A4	HP:0003596	Middle age onset
2542	SLC37A4	HP:0003593	Infantile onset
2542	SLC37A4	HP:0003577	Congenital onset
2542	SLC37A4	HP:0002240	Hepatomegaly
2542	SLC37A4	HP:0100732	Pancreatic fibrosis
2542	SLC37A4	HP:0008357	Reduced factor XIII activity
2542	SLC37A4	HP:0004841	Reduced factor XII activity
2542	SLC37A4	HP:0003645	Prolonged partial thromboplastin time
2542	SLC37A4	HP:0100651	Type I diabetes mellitus
2542	SLC37A4	HP:0100646	Thyroiditis
2542	SLC37A4	HP:0003623	Neonatal onset
2542	SLC37A4	HP:0003621	Juvenile onset
2542	SLC37A4	HP:0005576	Tubulointerstitial fibrosis
2542	SLC37A4	HP:0001976	Reduced antithrombin III activity
2542	SLC37A4	HP:0001943	Hypoglycemia
2542	SLC37A4	HP:0001946	Ketosis
2542	SLC37A4	HP:0001942	Metabolic acidosis
2542	SLC37A4	HP:0001929	Reduced factor XI activity
2542	SLC37A4	HP:0001935	Microcytic anemia
2542	SLC37A4	HP:0001903	Anemia
2542	SLC37A4	HP:0000696	Delayed eruption of permanent teeth
2542	SLC37A4	HP:0000660	Lipemia retinalis
2542	SLC37A4	HP:0000670	Carious teeth
2542	SLC37A4	HP:0001997	Gout
2542	SLC37A4	HP:0004322	Short stature
2542	SLC37A4	HP:0031956	Elevated circulating aspartate aminotransferase concentration
2542	SLC37A4	HP:0031964	Elevated circulating alanine aminotransferase concentration
2542	SLC37A4	HP:0003077	Hyperlipidemia
2542	SLC37A4	HP:0004387	Enterocolitis
2542	SLC37A4	HP:0031936	Delayed ability to walk
2542	SLC37A4	HP:0000767	Pectus excavatum
2542	SLC37A4	HP:0000768	Pectus carinatum
2542	SLC37A4	HP:0000704	Periodontitis
2542	SLC37A4	HP:0011462	Young adult onset
2542	SLC37A4	HP:0000774	Narrow chest
2542	SLC37A4	HP:0000793	Membranoproliferative glomerulonephritis
2542	SLC37A4	HP:0000790	Hematuria
2542	SLC37A4	HP:0000787	Nephrolithiasis
2542	SLC37A4	HP:0003124	Hypercholesterolemia
2542	SLC37A4	HP:0003155	Elevated circulating alkaline phosphatase concentration
2542	SLC37A4	HP:0003128	Lactic acidosis
2542	SLC37A4	HP:0000858	Irregular menstruation
2542	SLC37A4	HP:0000822	Hypertension
2542	SLC37A4	HP:0000821	Hypothyroidism
2542	SLC37A4	HP:0000823	Delayed puberty
2542	SLC37A4	HP:0010296	Ankyloglossia
2542	SLC37A4	HP:0010280	Stomatitis
2542	SLC37A4	HP:0003225	Reduced coagulation factor V activity
2542	SLC37A4	HP:0004502	Bilateral choanal atresia
2542	SLC37A4	HP:0000978	Bruising susceptibility
2542	SLC37A4	HP:0000991	Xanthomatosis
2542	SLC37A4	HP:0100279	Ulcerative colitis
2542	SLC37A4	HP:0000939	Osteoporosis
2542	SLC37A4	HP:0000938	Osteopenia
2542	SLC37A4	HP:0000293	Full cheeks
2542	SLC37A4	HP:0000295	Doll-like facies
2542	SLC37A4	HP:0000275	Narrow face
2542	SLC37A4	HP:0012213	Decreased glomerular filtration rate
2542	SLC37A4	HP:0002884	Hepatoblastoma
2542	SLC37A4	HP:0000230	Gingivitis
2542	SLC37A4	HP:0001538	Protuberant abdomen
2542	SLC37A4	HP:0001508	Failure to thrive
2542	SLC37A4	HP:0001510	Growth delay
2542	SLC37A4	HP:0011069	Supernumerary tooth
2542	SLC37A4	HP:0012379	Abnormal circulating enzyme concentration or activity
2542	SLC37A4	HP:0012358	Abnormal protein O-linked glycosylation
2542	SLC37A4	HP:0006579	Prolonged neonatal jaundice
2542	SLC37A4	HP:0006568	Increased hepatic glycogen content
2542	SLC37A4	HP:0002910	Elevated hepatic transaminase
2542	SLC37A4	HP:0002907	Microscopic hematuria
2542	SLC37A4	HP:0012347	Abnormal protein N-linked glycosylation
2542	SLC37A4	HP:0000369	Low-set ears
2542	SLC37A4	HP:0000347	Micrognathia
2542	SLC37A4	HP:0012301	Type II transferrin isoform profile
2542	SLC37A4	HP:0000316	Hypertelorism
2542	SLC37A4	HP:0000311	Round face
2542	SLC37A4	HP:0000324	Facial asymmetry
2542	SLC37A4	HP:0001629	Ventricular septal defect
2542	SLC37A4	HP:0001636	Tetralogy of Fallot
2542	SLC37A4	HP:0000307	Pointed chin
2542	SLC37A4	HP:0000403	Recurrent otitis media
2542	SLC37A4	HP:0001733	Pancreatitis
2542	SLC37A4	HP:0000486	Strabismus
2542	SLC37A4	HP:0011120	Concave nasal ridge
2542	SLC37A4	HP:0001763	Pes planus
2542	SLC37A4	HP:0000445	Wide nose
2542	SLC37A4	HP:0001744	Splenomegaly
2542	SLC37A4	HP:0000430	Underdeveloped nasal alae
2542	SLC37A4	HP:0000421	Epistaxis
2542	SLC37A4	HP:0012594	Moderate albuminuria
2542	SLC37A4	HP:0001892	Abnormal bleeding
2542	SLC37A4	HP:0012522	Spider hemangioma
2542	SLC37A4	HP:0001881	Abnormal leukocyte morphology
2542	SLC37A4	HP:0001873	Thrombocytopenia
2542	SLC37A4	HP:0001875	Neutropenia
2548	GAA	HP:0033567	Right axis deviation
2548	GAA	HP:0003725	Firm muscles
2548	GAA	HP:0003701	Proximal muscle weakness
2548	GAA	HP:0032232	Increased circulating creatine kinase MB isoform
2548	GAA	HP:0001270	Motor delay
2548	GAA	HP:0001284	Areflexia
2548	GAA	HP:0001252	Hypotonia
2548	GAA	HP:0001249	Intellectual disability
2548	GAA	HP:0001265	Hyporeflexia
2548	GAA	HP:0025336	Delayed ability to sit
2548	GAA	HP:0025335	Delayed ability to stand
2548	GAA	HP:0000020	Urinary incontinence
2548	GAA	HP:0008872	Feeding difficulties in infancy
2548	GAA	HP:0031185	Increased circulating NT-proBNP concentration
2548	GAA	HP:0001324	Muscle weakness
2548	GAA	HP:0000007	Autosomal recessive inheritance
2548	GAA	HP:0000183	Difficulty in tongue movements
2548	GAA	HP:0000158	Macroglossia
2548	GAA	HP:0025435	Increased circulating lactate dehydrogenase concentration
2548	GAA	HP:0008947	Infantile muscular hypotonia
2548	GAA	HP:0002747	Respiratory insufficiency due to muscle weakness
2548	GAA	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI
2548	GAA	HP:0003324	Generalized muscle weakness
2548	GAA	HP:0002098	Respiratory distress
2548	GAA	HP:0002094	Dyspnea
2548	GAA	HP:0002093	Respiratory insufficiency
2548	GAA	HP:0011703	Sinus tachycardia
2548	GAA	HP:0010471	Oligosacchariduria
2548	GAA	HP:0002138	Subarachnoid hemorrhage
2548	GAA	HP:0033235	Difficulty descending stairs
2548	GAA	HP:0002240	Hepatomegaly
2548	GAA	HP:0003551	Difficulty climbing stairs
2548	GAA	HP:0003546	Exercise intolerance
2548	GAA	HP:0004887	Respiratory failure requiring assisted ventilation
2548	GAA	HP:0002202	Pleural effusion
2548	GAA	HP:0002205	Recurrent respiratory infections
2548	GAA	HP:0032092	Left ventricular outflow tract obstruction
2548	GAA	HP:0011947	Respiratory tract infection
2548	GAA	HP:0003690	Limb muscle weakness
2548	GAA	HP:0002355	Difficulty walking
2548	GAA	HP:0009805	Low-output congestive heart failure
2548	GAA	HP:0004944	Dilatation of the cerebral artery
2548	GAA	HP:0001945	Fever
2548	GAA	HP:0009051	Increased muscle glycogen content
2548	GAA	HP:0031964	Elevated circulating alanine aminotransferase concentration
2548	GAA	HP:0011400	Abnormal CNS myelination
2548	GAA	HP:0011462	Young adult onset
2548	GAA	HP:0003236	Elevated circulating creatine kinase concentration
2548	GAA	HP:0000297	Facial hypotonia
2548	GAA	HP:0002878	Respiratory failure
2548	GAA	HP:0001508	Failure to thrive
2548	GAA	HP:0012379	Abnormal circulating enzyme concentration or activity
2548	GAA	HP:0006597	Diaphragmatic paralysis
2548	GAA	HP:0005165	Shortened PR interval
2548	GAA	HP:0000365	Hearing impairment
2548	GAA	HP:0030148	Heart murmur
2548	GAA	HP:0001640	Cardiomegaly
2548	GAA	HP:0001639	Hypertrophic cardiomyopathy
2548	GAA	HP:0001716	Wolff-Parkinson-White syndrome
2548	GAA	HP:0001712	Left ventricular hypertrophy
2548	GAA	HP:0001744	Splenomegaly
2549	GAB1	HP:0000007	Autosomal recessive inheritance
2549	GAB1	HP:0000407	Sensorineural hearing impairment
2554	GABRA1	HP:0025101	Dysgenesis of the hippocampus
2554	GABRA1	HP:0007270	Atypical absence seizure
2554	GABRA1	HP:0007240	Progressive gait ataxia
2554	GABRA1	HP:0010852	EEG with photoparoxysmal response
2554	GABRA1	HP:0010850	EEG with spike-wave complexes
2554	GABRA1	HP:0001249	Intellectual disability
2554	GABRA1	HP:0001263	Global developmental delay
2554	GABRA1	HP:0008770	Obsessive-compulsive trait
2554	GABRA1	HP:0007359	Focal-onset seizure
2554	GABRA1	HP:0000020	Urinary incontinence
2554	GABRA1	HP:0001328	Specific learning disability
2554	GABRA1	HP:0001327	Photosensitive myoclonic seizure
2554	GABRA1	HP:0000006	Autosomal dominant inheritance
2554	GABRA1	HP:0001336	Myoclonus
2554	GABRA1	HP:0001300	Parkinsonism
2554	GABRA1	HP:0000153	Abnormality of the mouth
2554	GABRA1	HP:0008947	Infantile muscular hypotonia
2554	GABRA1	HP:0100543	Cognitive impairment
2554	GABRA1	HP:0002069	Bilateral tonic-clonic seizure
2554	GABRA1	HP:0002067	Bradykinesia
2554	GABRA1	HP:0002063	Rigidity
2554	GABRA1	HP:0002123	Generalized myoclonic seizure
2554	GABRA1	HP:0002121	Generalized non-motor (absence) seizure
2554	GABRA1	HP:0002133	Status epilepticus
2554	GABRA1	HP:0002197	Generalized-onset seizure
2554	GABRA1	HP:0010522	Dyslexia
2554	GABRA1	HP:0003593	Infantile onset
2554	GABRA1	HP:0100710	Impulsivity
2554	GABRA1	HP:0200134	Epileptic encephalopathy
2554	GABRA1	HP:0002283	Global brain atrophy
2554	GABRA1	HP:0007010	Poor fine motor coordination
2554	GABRA1	HP:0007018	Attention deficit hyperactivity disorder
2554	GABRA1	HP:0007000	Morning myoclonic jerks
2554	GABRA1	HP:0002384	Focal impaired awareness seizure
2554	GABRA1	HP:0002396	Cogwheel rigidity
2554	GABRA1	HP:0002392	EEG with polyspike wave complexes
2554	GABRA1	HP:0002376	Developmental regression
2554	GABRA1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2554	GABRA1	HP:0002345	Action tremor
2554	GABRA1	HP:0002349	Focal aware seizure
2554	GABRA1	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
2554	GABRA1	HP:0010841	Multifocal epileptiform discharges
2554	GABRA1	HP:0007207	Photosensitive tonic-clonic seizure
2554	GABRA1	HP:0010819	Atonic seizure
2554	GABRA1	HP:0010818	Generalized tonic seizure
2554	GABRA1	HP:0200048	Cyanotic episode
2554	GABRA1	HP:0010794	Impaired visuospatial constructive cognition
2554	GABRA1	HP:0100694	Tibial torsion
2554	GABRA1	HP:0002311	Incoordination
2554	GABRA1	HP:0002307	Drooling
2554	GABRA1	HP:0006813	Focal hemiclonic seizure
2554	GABRA1	HP:0006961	Jerky head movements
2554	GABRA1	HP:0003066	Limited knee extension
2554	GABRA1	HP:0000739	Anxiety
2554	GABRA1	HP:0000736	Short attention span
2554	GABRA1	HP:0000716	Depression
2554	GABRA1	HP:0000718	Aggressive behavior
2554	GABRA1	HP:0000729	Autistic behavior
2554	GABRA1	HP:0011468	Facial tics
2554	GABRA1	HP:0012847	Epilepsia partialis continua
2554	GABRA1	HP:0045084	Limb myoclonus
2554	GABRA1	HP:0000980	Pallor
2554	GABRA1	HP:0008081	Pes valgus
2554	GABRA1	HP:0007738	Uncontrolled eye movements
2554	GABRA1	HP:0002883	Hyperventilation
2554	GABRA1	HP:0032794	Myoclonic seizure
2554	GABRA1	HP:0031469	Low self esteem
2554	GABRA1	HP:0031475	Status epilepticus without prominent motor symptoms
2554	GABRA1	HP:0011198	EEG with generalized epileptiform discharges
2554	GABRA1	HP:0011185	EEG with focal epileptiform discharges
2554	GABRA1	HP:0011182	Interictal epileptiform activity
2554	GABRA1	HP:0011169	Generalized clonic seizure
2554	GABRA1	HP:0011172	Complex febrile seizure
2554	GABRA1	HP:0011147	Typical absence seizure
2554	GABRA1	HP:0011150	Myoclonic absence seizure
2554	GABRA1	HP:0030218	Punding
2554	GABRA1	HP:0000496	Abnormality of eye movement
2554	GABRA1	HP:0012433	Abnormal social behavior
2554	GABRA1	HP:0000466	Limited neck range of motion
2554	GABRA1	HP:0001763	Pes planus
2555	GABRA2	HP:0002421	Poor head control
2555	GABRA2	HP:0001298	Encephalopathy
2555	GABRA2	HP:0001290	Generalized hypotonia
2555	GABRA2	HP:0001273	Abnormal corpus callosum morphology
2555	GABRA2	HP:0001268	Mental deterioration
2555	GABRA2	HP:0001250	Seizure
2555	GABRA2	HP:0001252	Hypotonia
2555	GABRA2	HP:0001251	Ataxia
2555	GABRA2	HP:0001249	Intellectual disability
2555	GABRA2	HP:0001265	Hyporeflexia
2555	GABRA2	HP:0001263	Global developmental delay
2555	GABRA2	HP:0001257	Spasticity
2555	GABRA2	HP:0002540	Inability to walk
2555	GABRA2	HP:0002521	Hypsarrhythmia
2555	GABRA2	HP:0002509	Limb hypertonia
2555	GABRA2	HP:0001337	Tremor
2555	GABRA2	HP:0000006	Autosomal dominant inheritance
2555	GABRA2	HP:0001336	Myoclonus
2555	GABRA2	HP:0001319	Neonatal hypotonia
2555	GABRA2	HP:0001315	Reduced tendon reflexes
2555	GABRA2	HP:0001426	Multifactorial inheritance
2555	GABRA2	HP:0002020	Gastroesophageal reflux
2555	GABRA2	HP:0002063	Rigidity
2555	GABRA2	HP:0002072	Chorea
2555	GABRA2	HP:0002045	Hypothermia
2555	GABRA2	HP:0030955	Alcoholism
2555	GABRA2	HP:0002059	Cerebral atrophy
2555	GABRA2	HP:0002133	Status epilepticus
2555	GABRA2	HP:0003429	CNS hypomyelination
2555	GABRA2	HP:0100704	Cerebral visual impairment
2555	GABRA2	HP:0100710	Impulsivity
2555	GABRA2	HP:0007018	Attention deficit hyperactivity disorder
2555	GABRA2	HP:0011968	Feeding difficulties
2555	GABRA2	HP:0002376	Developmental regression
2555	GABRA2	HP:0002355	Difficulty walking
2555	GABRA2	HP:0002317	Unsteady gait
2555	GABRA2	HP:0010844	EEG with multifocal slow activity
2555	GABRA2	HP:0100660	Dyskinesia
2555	GABRA2	HP:0000639	Nystagmus
2555	GABRA2	HP:0000648	Optic atrophy
2555	GABRA2	HP:0011344	Severe global developmental delay
2555	GABRA2	HP:0000668	Hypodontia
2555	GABRA2	HP:0004322	Short stature
2555	GABRA2	HP:0004305	Involuntary movements
2555	GABRA2	HP:0100021	Cerebral palsy
2555	GABRA2	HP:0000750	Delayed speech and language development
2555	GABRA2	HP:0000717	Autism
2555	GABRA2	HP:0000729	Autistic behavior
2555	GABRA2	HP:0000708	Atypical behavior
2555	GABRA2	HP:0011443	Abnormality of coordination
2555	GABRA2	HP:0000252	Microcephaly
2555	GABRA2	HP:0001558	Decreased fetal movement
2555	GABRA2	HP:0001508	Failure to thrive
2555	GABRA2	HP:0000348	High forehead
2555	GABRA2	HP:0000494	Downslanted palpebral fissures
2555	GABRA2	HP:0012444	Brain atrophy
2555	GABRA2	HP:0012447	Abnormal myelination
2555	GABRA2	HP:0000508	Ptosis
2555	GABRA2	HP:0000504	Abnormality of vision
2555	GABRA2	HP:0012547	Abnormal involuntary eye movements
2555	GABRA2	HP:0000546	Retinal degeneration
2556	GABRA3	HP:0002486	Myotonia
2556	GABRA3	HP:0002445	Tetraplegia
2556	GABRA3	HP:0003752	Episodic flaccid weakness
2556	GABRA3	HP:0100807	Long fingers
2556	GABRA3	HP:0001249	Intellectual disability
2556	GABRA3	HP:0001265	Hyporeflexia
2556	GABRA3	HP:0001263	Global developmental delay
2556	GABRA3	HP:0007340	Lower limb muscle weakness
2556	GABRA3	HP:0000016	Urinary retention
2556	GABRA3	HP:0001337	Tremor
2556	GABRA3	HP:0000160	Narrow mouth
2556	GABRA3	HP:0000175	Cleft palate
2556	GABRA3	HP:0001417	X-linked inheritance
2556	GABRA3	HP:0002019	Constipation
2556	GABRA3	HP:0002069	Bilateral tonic-clonic seizure
2556	GABRA3	HP:0003394	Muscle spasm
2556	GABRA3	HP:0011706	Second degree atrioventricular block
2556	GABRA3	HP:0008180	Mildly elevated creatine kinase
2556	GABRA3	HP:0008153	Periodic hypokalemic paresis
2556	GABRA3	HP:0011784	Thyrotoxicosis with diffuse goiter
2556	GABRA3	HP:0011785	Thyrotoxicosis with toxic multinodular goiter
2556	GABRA3	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule
2556	GABRA3	HP:0003470	Paralysis
2556	GABRA3	HP:0002153	Hyperkalemia
2556	GABRA3	HP:0002121	Generalized non-motor (absence) seizure
2556	GABRA3	HP:0003457	EMG abnormality
2556	GABRA3	HP:0008285	Transient hypophosphatemia
2556	GABRA3	HP:0003552	Muscle stiffness
2556	GABRA3	HP:0002203	Respiratory paralysis
2556	GABRA3	HP:0011998	Postprandial hyperglycemia
2556	GABRA3	HP:0002384	Focal impaired awareness seizure
2556	GABRA3	HP:0003694	Late-onset proximal muscle weakness
2556	GABRA3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2556	GABRA3	HP:0100647	Graves disease
2556	GABRA3	HP:0200021	Down-sloping shoulders
2556	GABRA3	HP:0003621	Juvenile onset
2556	GABRA3	HP:0000639	Nystagmus
2556	GABRA3	HP:0001962	Palpitations
2556	GABRA3	HP:0009020	Exercise-induced muscle fatigue
2556	GABRA3	HP:0000664	Synophrys
2556	GABRA3	HP:0004303	Abnormal muscle fiber morphology
2556	GABRA3	HP:0012726	Episodic hypokalemia
2556	GABRA3	HP:0011463	Childhood onset
2556	GABRA3	HP:0011462	Young adult onset
2556	GABRA3	HP:0005709	2-3 toe cutaneous syndactyly
2556	GABRA3	HP:0003189	Long nose
2556	GABRA3	HP:0003134	Abnormality of peripheral nerve conduction
2556	GABRA3	HP:0000836	Hyperthyroidism
2556	GABRA3	HP:0003201	Rhabdomyolysis
2556	GABRA3	HP:0000975	Hyperhidrosis
2556	GABRA3	HP:0045025	Narrow palpebral fissure
2556	GABRA3	HP:0000278	Retrognathia
2556	GABRA3	HP:0012240	Increased intramyocellular lipid droplets
2556	GABRA3	HP:0000218	High palate
2556	GABRA3	HP:0001513	Obesity
2556	GABRA3	HP:0011097	Epileptic spasm
2556	GABRA3	HP:0012364	Decreased urinary potassium
2556	GABRA3	HP:0002917	Hypomagnesemia
2556	GABRA3	HP:0005165	Shortened PR interval
2556	GABRA3	HP:0000369	Low-set ears
2556	GABRA3	HP:0032792	Tonic seizure
2556	GABRA3	HP:0000347	Micrognathia
2556	GABRA3	HP:0001663	Ventricular fibrillation
2556	GABRA3	HP:0001657	Prolonged QT interval
2556	GABRA3	HP:0006670	Impaired myocardial contractility
2556	GABRA3	HP:0000472	Long neck
2556	GABRA3	HP:0000470	Short neck
2556	GABRA3	HP:0000411	Protruding ear
2556	GABRA3	HP:0001824	Weight loss
2556	GABRA3	HP:0000597	Ophthalmoparesis
2558	GABRA5	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
2558	GABRA5	HP:0010864	Intellectual disability, severe
2558	GABRA5	HP:0002421	Poor head control
2558	GABRA5	HP:0001298	Encephalopathy
2558	GABRA5	HP:0001290	Generalized hypotonia
2558	GABRA5	HP:0001273	Abnormal corpus callosum morphology
2558	GABRA5	HP:0001270	Motor delay
2558	GABRA5	HP:0001268	Mental deterioration
2558	GABRA5	HP:0001250	Seizure
2558	GABRA5	HP:0001251	Ataxia
2558	GABRA5	HP:0001249	Intellectual disability
2558	GABRA5	HP:0001265	Hyporeflexia
2558	GABRA5	HP:0001263	Global developmental delay
2558	GABRA5	HP:0001257	Spasticity
2558	GABRA5	HP:0002521	Hypsarrhythmia
2558	GABRA5	HP:0002509	Limb hypertonia
2558	GABRA5	HP:0001337	Tremor
2558	GABRA5	HP:0000006	Autosomal dominant inheritance
2558	GABRA5	HP:0001336	Myoclonus
2558	GABRA5	HP:0001315	Reduced tendon reflexes
2558	GABRA5	HP:0002020	Gastroesophageal reflux
2558	GABRA5	HP:0002063	Rigidity
2558	GABRA5	HP:0002079	Hypoplasia of the corpus callosum
2558	GABRA5	HP:0002059	Cerebral atrophy
2558	GABRA5	HP:0002120	Cerebral cortical atrophy
2558	GABRA5	HP:0002133	Status epilepticus
2558	GABRA5	HP:0003429	CNS hypomyelination
2558	GABRA5	HP:0100710	Impulsivity
2558	GABRA5	HP:0007018	Attention deficit hyperactivity disorder
2558	GABRA5	HP:0011968	Feeding difficulties
2558	GABRA5	HP:0002376	Developmental regression
2558	GABRA5	HP:0002355	Difficulty walking
2558	GABRA5	HP:0002317	Unsteady gait
2558	GABRA5	HP:0010844	EEG with multifocal slow activity
2558	GABRA5	HP:0100660	Dyskinesia
2558	GABRA5	HP:0006892	Frontotemporal cerebral atrophy
2558	GABRA5	HP:0000639	Nystagmus
2558	GABRA5	HP:0000648	Optic atrophy
2558	GABRA5	HP:0000668	Hypodontia
2558	GABRA5	HP:0004322	Short stature
2558	GABRA5	HP:0004305	Involuntary movements
2558	GABRA5	HP:0000750	Delayed speech and language development
2558	GABRA5	HP:0000717	Autism
2558	GABRA5	HP:0000708	Atypical behavior
2558	GABRA5	HP:0011443	Abnormality of coordination
2558	GABRA5	HP:0000252	Microcephaly
2558	GABRA5	HP:0001558	Decreased fetal movement
2558	GABRA5	HP:0001508	Failure to thrive
2558	GABRA5	HP:0032786	Migrating focal seizure
2558	GABRA5	HP:0032792	Tonic seizure
2558	GABRA5	HP:0000348	High forehead
2558	GABRA5	HP:0032794	Myoclonic seizure
2558	GABRA5	HP:0000494	Downslanted palpebral fissures
2558	GABRA5	HP:0012444	Brain atrophy
2558	GABRA5	HP:0012447	Abnormal myelination
2558	GABRA5	HP:0005484	Secondary microcephaly
2558	GABRA5	HP:0000508	Ptosis
2558	GABRA5	HP:0000504	Abnormality of vision
2558	GABRA5	HP:0012547	Abnormal involuntary eye movements
2558	GABRA5	HP:0000546	Retinal degeneration
2560	GABRB1	HP:0001250	Seizure
2560	GABRB1	HP:0001252	Hypotonia
2560	GABRB1	HP:0001251	Ataxia
2560	GABRB1	HP:0001263	Global developmental delay
2560	GABRB1	HP:0002521	Hypsarrhythmia
2560	GABRB1	HP:0000006	Autosomal dominant inheritance
2560	GABRB1	HP:0002079	Hypoplasia of the corpus callosum
2560	GABRB1	HP:0003593	Infantile onset
2560	GABRB1	HP:0100704	Cerebral visual impairment
2560	GABRB1	HP:0200134	Epileptic encephalopathy
2560	GABRB1	HP:0002376	Developmental regression
2561	GABRB2	HP:0002421	Poor head control
2561	GABRB2	HP:0001298	Encephalopathy
2561	GABRB2	HP:0001290	Generalized hypotonia
2561	GABRB2	HP:0001273	Abnormal corpus callosum morphology
2561	GABRB2	HP:0001268	Mental deterioration
2561	GABRB2	HP:0001254	Lethargy
2561	GABRB2	HP:0001250	Seizure
2561	GABRB2	HP:0001251	Ataxia
2561	GABRB2	HP:0001249	Intellectual disability
2561	GABRB2	HP:0001265	Hyporeflexia
2561	GABRB2	HP:0001263	Global developmental delay
2561	GABRB2	HP:0001257	Spasticity
2561	GABRB2	HP:0002540	Inability to walk
2561	GABRB2	HP:0002521	Hypsarrhythmia
2561	GABRB2	HP:0003828	Variable expressivity
2561	GABRB2	HP:0002509	Limb hypertonia
2561	GABRB2	HP:0001332	Dystonia
2561	GABRB2	HP:0001344	Absent speech
2561	GABRB2	HP:0001337	Tremor
2561	GABRB2	HP:0000006	Autosomal dominant inheritance
2561	GABRB2	HP:0001336	Myoclonus
2561	GABRB2	HP:0001315	Reduced tendon reflexes
2561	GABRB2	HP:0002020	Gastroesophageal reflux
2561	GABRB2	HP:0002063	Rigidity
2561	GABRB2	HP:0002059	Cerebral atrophy
2561	GABRB2	HP:0002133	Status epilepticus
2561	GABRB2	HP:0100704	Cerebral visual impairment
2561	GABRB2	HP:0100710	Impulsivity
2561	GABRB2	HP:0200134	Epileptic encephalopathy
2561	GABRB2	HP:0007018	Attention deficit hyperactivity disorder
2561	GABRB2	HP:0011968	Feeding difficulties
2561	GABRB2	HP:0002376	Developmental regression
2561	GABRB2	HP:0002355	Difficulty walking
2561	GABRB2	HP:0002353	EEG abnormality
2561	GABRB2	HP:0002317	Unsteady gait
2561	GABRB2	HP:0010844	EEG with multifocal slow activity
2561	GABRB2	HP:0100660	Dyskinesia
2561	GABRB2	HP:0000639	Nystagmus
2561	GABRB2	HP:0000648	Optic atrophy
2561	GABRB2	HP:0000668	Hypodontia
2561	GABRB2	HP:0004322	Short stature
2561	GABRB2	HP:0004305	Involuntary movements
2561	GABRB2	HP:0000750	Delayed speech and language development
2561	GABRB2	HP:0000717	Autism
2561	GABRB2	HP:0000708	Atypical behavior
2561	GABRB2	HP:0011443	Abnormality of coordination
2561	GABRB2	HP:0000252	Microcephaly
2561	GABRB2	HP:0001558	Decreased fetal movement
2561	GABRB2	HP:0001508	Failure to thrive
2561	GABRB2	HP:0000348	High forehead
2561	GABRB2	HP:0000494	Downslanted palpebral fissures
2561	GABRB2	HP:0012444	Brain atrophy
2561	GABRB2	HP:0012447	Abnormal myelination
2561	GABRB2	HP:0005484	Secondary microcephaly
2561	GABRB2	HP:0000508	Ptosis
2561	GABRB2	HP:0000504	Abnormality of vision
2561	GABRB2	HP:0012547	Abnormal involuntary eye movements
2561	GABRB2	HP:0000546	Retinal degeneration
2562	GABRB3	HP:0007270	Atypical absence seizure
2562	GABRB3	HP:0001298	Encephalopathy
2562	GABRB3	HP:0001290	Generalized hypotonia
2562	GABRB3	HP:0001268	Mental deterioration
2562	GABRB3	HP:0001251	Ataxia
2562	GABRB3	HP:0001249	Intellectual disability
2562	GABRB3	HP:0001263	Global developmental delay
2562	GABRB3	HP:0007359	Focal-onset seizure
2562	GABRB3	HP:0002521	Hypsarrhythmia
2562	GABRB3	HP:0002527	Falls
2562	GABRB3	HP:0003829	Typified by incomplete penetrance
2562	GABRB3	HP:0012075	Personality disorder
2562	GABRB3	HP:0000020	Urinary incontinence
2562	GABRB3	HP:0001328	Specific learning disability
2562	GABRB3	HP:0000006	Autosomal dominant inheritance
2562	GABRB3	HP:0001336	Myoclonus
2562	GABRB3	HP:0002069	Bilateral tonic-clonic seizure
2562	GABRB3	HP:0002123	Generalized myoclonic seizure
2562	GABRB3	HP:0002121	Generalized non-motor (absence) seizure
2562	GABRB3	HP:0010522	Dyslexia
2562	GABRB3	HP:0003593	Infantile onset
2562	GABRB3	HP:0100710	Impulsivity
2562	GABRB3	HP:0200134	Epileptic encephalopathy
2562	GABRB3	HP:0007018	Attention deficit hyperactivity disorder
2562	GABRB3	HP:0002363	Abnormal brainstem morphology
2562	GABRB3	HP:0002360	Sleep disturbance
2562	GABRB3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2562	GABRB3	HP:0002353	EEG abnormality
2562	GABRB3	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
2562	GABRB3	HP:0100660	Dyskinesia
2562	GABRB3	HP:0010819	Atonic seizure
2562	GABRB3	HP:0010818	Generalized tonic seizure
2562	GABRB3	HP:0010794	Impaired visuospatial constructive cognition
2562	GABRB3	HP:0006961	Jerky head movements
2562	GABRB3	HP:0000752	Hyperactivity
2562	GABRB3	HP:0000739	Anxiety
2562	GABRB3	HP:0000716	Depression
2562	GABRB3	HP:0000718	Aggressive behavior
2562	GABRB3	HP:0000729	Autistic behavior
2562	GABRB3	HP:0000708	Atypical behavior
2562	GABRB3	HP:0045084	Limb myoclonus
2562	GABRB3	HP:0000980	Pallor
2562	GABRB3	HP:0007738	Uncontrolled eye movements
2562	GABRB3	HP:0002883	Hyperventilation
2562	GABRB3	HP:0032794	Myoclonic seizure
2562	GABRB3	HP:0031469	Low self esteem
2562	GABRB3	HP:0011195	EEG with focal sharp slow waves
2562	GABRB3	HP:0011147	Typical absence seizure
2562	GABRB3	HP:0011150	Myoclonic absence seizure
2562	GABRB3	HP:0030218	Punding
2562	GABRB3	HP:0012469	Infantile spasms
2562	GABRB3	HP:0012433	Abnormal social behavior
2563	GABRD	HP:0001156	Brachydactyly
2563	GABRD	HP:0002465	Poor speech
2563	GABRD	HP:0001107	Ocular albinism
2563	GABRD	HP:0008551	Microtia
2563	GABRD	HP:0010850	EEG with spike-wave complexes
2563	GABRD	HP:0001274	Agenesis of corpus callosum
2563	GABRD	HP:0001288	Gait disturbance
2563	GABRD	HP:0001250	Seizure
2563	GABRD	HP:0001252	Hypotonia
2563	GABRD	HP:0001251	Ataxia
2563	GABRD	HP:0001249	Intellectual disability
2563	GABRD	HP:0002591	Polyphagia
2563	GABRD	HP:0001263	Global developmental delay
2563	GABRD	HP:0008770	Obsessive-compulsive trait
2563	GABRD	HP:0008736	Hypoplasia of penis
2563	GABRD	HP:0007359	Focal-onset seizure
2563	GABRD	HP:0002539	Cortical dysplasia
2563	GABRD	HP:0001397	Hepatic steatosis
2563	GABRD	HP:0001392	Abnormality of the liver
2563	GABRD	HP:0000077	Abnormality of the kidney
2563	GABRD	HP:0000055	Abnormality of female external genitalia
2563	GABRD	HP:0001385	Hip dysplasia
2563	GABRD	HP:0001387	Joint stiffness
2563	GABRD	HP:0000047	Hypospadias
2563	GABRD	HP:0000028	Cryptorchidism
2563	GABRD	HP:0008872	Feeding difficulties in infancy
2563	GABRD	HP:0001344	Absent speech
2563	GABRD	HP:0001337	Tremor
2563	GABRD	HP:0000006	Autosomal dominant inheritance
2563	GABRD	HP:0002650	Scoliosis
2563	GABRD	HP:0000160	Narrow mouth
2563	GABRD	HP:0000135	Hypogonadism
2563	GABRD	HP:0000153	Abnormality of the mouth
2563	GABRD	HP:0000126	Hydronephrosis
2563	GABRD	HP:0000107	Renal cyst
2563	GABRD	HP:0002715	Abnormality of the immune system
2563	GABRD	HP:0004684	Talipes valgus
2563	GABRD	HP:0002021	Pyloric stenosis
2563	GABRD	HP:0002020	Gastroesophageal reflux
2563	GABRD	HP:0002019	Constipation
2563	GABRD	HP:0002015	Dysphagia
2563	GABRD	HP:0002007	Frontal bossing
2563	GABRD	HP:0011800	Midface retrusion
2563	GABRD	HP:0100543	Cognitive impairment
2563	GABRD	HP:0100559	Lower limb asymmetry
2563	GABRD	HP:0002069	Bilateral tonic-clonic seizure
2563	GABRD	HP:0002067	Bradykinesia
2563	GABRD	HP:0002123	Generalized myoclonic seizure
2563	GABRD	HP:0002120	Cerebral cortical atrophy
2563	GABRD	HP:0002121	Generalized non-motor (absence) seizure
2563	GABRD	HP:0002119	Ventriculomegaly
2563	GABRD	HP:0002133	Status epilepticus
2563	GABRD	HP:0003416	Spinal canal stenosis
2563	GABRD	HP:0002197	Generalized-onset seizure
2563	GABRD	HP:0002167	Abnormality of speech or vocalization
2563	GABRD	HP:0100490	Camptodactyly of finger
2563	GABRD	HP:0002242	Abnormal intestine morphology
2563	GABRD	HP:0100716	Self-injurious behavior
2563	GABRD	HP:0002230	Generalized hirsutism
2563	GABRD	HP:0007010	Poor fine motor coordination
2563	GABRD	HP:0007000	Morning myoclonic jerks
2563	GABRD	HP:0007058	Generalized cerebral atrophy/hypoplasia
2563	GABRD	HP:0002384	Focal impaired awareness seizure
2563	GABRD	HP:0002392	EEG with polyspike wave complexes
2563	GABRD	HP:0002376	Developmental regression
2563	GABRD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2563	GABRD	HP:0001009	Telangiectasia
2563	GABRD	HP:0002353	EEG abnormality
2563	GABRD	HP:0007207	Photosensitive tonic-clonic seizure
2563	GABRD	HP:0010819	Atonic seizure
2563	GABRD	HP:0008499	High hypermetropia
2563	GABRD	HP:0100694	Tibial torsion
2563	GABRD	HP:0002311	Incoordination
2563	GABRD	HP:0004209	Clinodactyly of the 5th finger
2563	GABRD	HP:0006824	Cranial nerve paralysis
2563	GABRD	HP:0000639	Nystagmus
2563	GABRD	HP:0000648	Optic atrophy
2563	GABRD	HP:0004322	Short stature
2563	GABRD	HP:0030680	Abnormality of cardiovascular system morphology
2563	GABRD	HP:0003066	Limited knee extension
2563	GABRD	HP:0004378	Abnormality of the anus
2563	GABRD	HP:0004374	Hemiplegia/hemiparesis
2563	GABRD	HP:0003006	Neuroblastoma
2563	GABRD	HP:0012733	Macule
2563	GABRD	HP:0000739	Anxiety
2563	GABRD	HP:0000733	Abnormal repetitive mannerisms
2563	GABRD	HP:0000750	Delayed speech and language development
2563	GABRD	HP:0000718	Aggressive behavior
2563	GABRD	HP:0000717	Autism
2563	GABRD	HP:0000729	Autistic behavior
2563	GABRD	HP:0000708	Atypical behavior
2563	GABRD	HP:0003198	Myopathy
2563	GABRD	HP:0000902	Rib fusion
2563	GABRD	HP:0000878	11 pairs of ribs
2563	GABRD	HP:0000892	Bifid ribs
2563	GABRD	HP:0000821	Hypothyroidism
2563	GABRD	HP:0008066	Abnormal blistering of the skin
2563	GABRD	HP:0000286	Epicanthus
2563	GABRD	HP:0000270	Delayed cranial suture closure
2563	GABRD	HP:0005113	Aortic arch aneurysm
2563	GABRD	HP:0002808	Kyphosis
2563	GABRD	HP:0000252	Microcephaly
2563	GABRD	HP:0000248	Brachycephaly
2563	GABRD	HP:0001508	Failure to thrive
2563	GABRD	HP:0001513	Obesity
2563	GABRD	HP:0000368	Low-set, posteriorly rotated ears
2563	GABRD	HP:0001671	Abnormal cardiac septum morphology
2563	GABRD	HP:0000343	Long philtrum
2563	GABRD	HP:0001643	Patent ductus arteriosus
2563	GABRD	HP:0001644	Dilated cardiomyopathy
2563	GABRD	HP:0001654	Abnormal heart valve morphology
2563	GABRD	HP:0001636	Tetralogy of Fallot
2563	GABRD	HP:0000307	Pointed chin
2563	GABRD	HP:0011151	Atypical absence status epilepticus
2563	GABRD	HP:0000407	Sensorineural hearing impairment
2563	GABRD	HP:0001734	Annular pancreas
2563	GABRD	HP:0000405	Conductive hearing impairment
2563	GABRD	HP:0005280	Depressed nasal bridge
2563	GABRD	HP:0000486	Strabismus
2563	GABRD	HP:0000496	Abnormality of eye movement
2563	GABRD	HP:0000490	Deeply set eye
2563	GABRD	HP:0000464	Abnormality of the neck
2563	GABRD	HP:0000457	Depressed nasal ridge
2563	GABRD	HP:0001773	Short foot
2563	GABRD	HP:0001763	Pes planus
2563	GABRD	HP:0001743	Abnormality of the spleen
2563	GABRD	HP:0000431	Wide nasal bridge
2563	GABRD	HP:0000518	Cataract
2563	GABRD	HP:0001829	Foot polydactyly
2563	GABRD	HP:0000505	Visual impairment
2563	GABRD	HP:0000504	Abnormality of vision
2563	GABRD	HP:0011228	Horizontal eyebrow
2563	GABRD	HP:0000534	Abnormal eyebrow morphology
2566	GABRG2	HP:0025101	Dysgenesis of the hippocampus
2566	GABRG2	HP:0007270	Atypical absence seizure
2566	GABRG2	HP:0007240	Progressive gait ataxia
2566	GABRG2	HP:0010850	EEG with spike-wave complexes
2566	GABRG2	HP:0002421	Poor head control
2566	GABRG2	HP:0001298	Encephalopathy
2566	GABRG2	HP:0001290	Generalized hypotonia
2566	GABRG2	HP:0001273	Abnormal corpus callosum morphology
2566	GABRG2	HP:0001268	Mental deterioration
2566	GABRG2	HP:0001250	Seizure
2566	GABRG2	HP:0001252	Hypotonia
2566	GABRG2	HP:0001251	Ataxia
2566	GABRG2	HP:0001249	Intellectual disability
2566	GABRG2	HP:0001265	Hyporeflexia
2566	GABRG2	HP:0001266	Choreoathetosis
2566	GABRG2	HP:0001263	Global developmental delay
2566	GABRG2	HP:0001257	Spasticity
2566	GABRG2	HP:0008770	Obsessive-compulsive trait
2566	GABRG2	HP:0007359	Focal-onset seizure
2566	GABRG2	HP:0007332	Focal hemifacial clonic seizure
2566	GABRG2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
2566	GABRG2	HP:0002539	Cortical dysplasia
2566	GABRG2	HP:0002521	Hypsarrhythmia
2566	GABRG2	HP:0003829	Typified by incomplete penetrance
2566	GABRG2	HP:0002509	Limb hypertonia
2566	GABRG2	HP:0000020	Urinary incontinence
2566	GABRG2	HP:0001328	Specific learning disability
2566	GABRG2	HP:0001327	Photosensitive myoclonic seizure
2566	GABRG2	HP:0001326	EEG with irregular generalized spike and wave complexes
2566	GABRG2	HP:0001344	Absent speech
2566	GABRG2	HP:0001337	Tremor
2566	GABRG2	HP:0000006	Autosomal dominant inheritance
2566	GABRG2	HP:0001336	Myoclonus
2566	GABRG2	HP:0001315	Reduced tendon reflexes
2566	GABRG2	HP:0001300	Parkinsonism
2566	GABRG2	HP:0025425	Laryngospasm
2566	GABRG2	HP:0008947	Infantile muscular hypotonia
2566	GABRG2	HP:0004684	Talipes valgus
2566	GABRG2	HP:0002020	Gastroesophageal reflux
2566	GABRG2	HP:0100543	Cognitive impairment
2566	GABRG2	HP:0002069	Bilateral tonic-clonic seizure
2566	GABRG2	HP:0002067	Bradykinesia
2566	GABRG2	HP:0002063	Rigidity
2566	GABRG2	HP:0002076	Migraine
2566	GABRG2	HP:0002059	Cerebral atrophy
2566	GABRG2	HP:0002123	Generalized myoclonic seizure
2566	GABRG2	HP:0002121	Generalized non-motor (absence) seizure
2566	GABRG2	HP:0002133	Status epilepticus
2566	GABRG2	HP:0002188	Delayed CNS myelination
2566	GABRG2	HP:0002197	Generalized-onset seizure
2566	GABRG2	HP:0010535	Sleep apnea
2566	GABRG2	HP:0010522	Dyslexia
2566	GABRG2	HP:0003401	Paresthesia
2566	GABRG2	HP:0003593	Infantile onset
2566	GABRG2	HP:0100710	Impulsivity
2566	GABRG2	HP:0200134	Epileptic encephalopathy
2566	GABRG2	HP:0002283	Global brain atrophy
2566	GABRG2	HP:0007010	Poor fine motor coordination
2566	GABRG2	HP:0007018	Attention deficit hyperactivity disorder
2566	GABRG2	HP:0011968	Feeding difficulties
2566	GABRG2	HP:0007058	Generalized cerebral atrophy/hypoplasia
2566	GABRG2	HP:0002384	Focal impaired awareness seizure
2566	GABRG2	HP:0002396	Cogwheel rigidity
2566	GABRG2	HP:0002392	EEG with polyspike wave complexes
2566	GABRG2	HP:0002376	Developmental regression
2566	GABRG2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2566	GABRG2	HP:0002345	Action tremor
2566	GABRG2	HP:0002355	Difficulty walking
2566	GABRG2	HP:0002349	Focal aware seizure
2566	GABRG2	HP:0002317	Unsteady gait
2566	GABRG2	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
2566	GABRG2	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
2566	GABRG2	HP:0010841	Multifocal epileptiform discharges
2566	GABRG2	HP:0010844	EEG with multifocal slow activity
2566	GABRG2	HP:0007207	Photosensitive tonic-clonic seizure
2566	GABRG2	HP:0100660	Dyskinesia
2566	GABRG2	HP:0010819	Atonic seizure
2566	GABRG2	HP:0010818	Generalized tonic seizure
2566	GABRG2	HP:0200048	Cyanotic episode
2566	GABRG2	HP:0010794	Impaired visuospatial constructive cognition
2566	GABRG2	HP:0100694	Tibial torsion
2566	GABRG2	HP:0003623	Neonatal onset
2566	GABRG2	HP:0002311	Incoordination
2566	GABRG2	HP:0002307	Drooling
2566	GABRG2	HP:0006813	Focal hemiclonic seizure
2566	GABRG2	HP:0009088	Speech articulation difficulties
2566	GABRG2	HP:0006889	Intellectual disability, borderline
2566	GABRG2	HP:0000639	Nystagmus
2566	GABRG2	HP:0000648	Optic atrophy
2566	GABRG2	HP:0011344	Severe global developmental delay
2566	GABRG2	HP:0000668	Hypodontia
2566	GABRG2	HP:0004322	Short stature
2566	GABRG2	HP:0006961	Jerky head movements
2566	GABRG2	HP:0004305	Involuntary movements
2566	GABRG2	HP:0003066	Limited knee extension
2566	GABRG2	HP:0000739	Anxiety
2566	GABRG2	HP:0000736	Short attention span
2566	GABRG2	HP:0000750	Delayed speech and language development
2566	GABRG2	HP:0000716	Depression
2566	GABRG2	HP:0000717	Autism
2566	GABRG2	HP:0000712	Emotional lability
2566	GABRG2	HP:0000729	Autistic behavior
2566	GABRG2	HP:0000708	Atypical behavior
2566	GABRG2	HP:0011468	Facial tics
2566	GABRG2	HP:0011463	Childhood onset
2566	GABRG2	HP:0011443	Abnormality of coordination
2566	GABRG2	HP:0034295	Reduced cerebral white matter volume
2566	GABRG2	HP:0012847	Epilepsia partialis continua
2566	GABRG2	HP:0045084	Limb myoclonus
2566	GABRG2	HP:0000980	Pallor
2566	GABRG2	HP:0008081	Pes valgus
2566	GABRG2	HP:0007738	Uncontrolled eye movements
2566	GABRG2	HP:0000252	Microcephaly
2566	GABRG2	HP:0002883	Hyperventilation
2566	GABRG2	HP:0001558	Decreased fetal movement
2566	GABRG2	HP:0001508	Failure to thrive
2566	GABRG2	HP:0032792	Tonic seizure
2566	GABRG2	HP:0000348	High forehead
2566	GABRG2	HP:0032794	Myoclonic seizure
2566	GABRG2	HP:0031469	Low self esteem
2566	GABRG2	HP:0031475	Status epilepticus without prominent motor symptoms
2566	GABRG2	HP:0011198	EEG with generalized epileptiform discharges
2566	GABRG2	HP:0011185	EEG with focal epileptiform discharges
2566	GABRG2	HP:0011182	Interictal epileptiform activity
2566	GABRG2	HP:0011169	Generalized clonic seizure
2566	GABRG2	HP:0011172	Complex febrile seizure
2566	GABRG2	HP:0011147	Typical absence seizure
2566	GABRG2	HP:0011151	Atypical absence status epilepticus
2566	GABRG2	HP:0011150	Myoclonic absence seizure
2566	GABRG2	HP:0030218	Punding
2566	GABRG2	HP:0012469	Infantile spasms
2566	GABRG2	HP:0000494	Downslanted palpebral fissures
2566	GABRG2	HP:0012444	Brain atrophy
2566	GABRG2	HP:0012447	Abnormal myelination
2566	GABRG2	HP:0012433	Abnormal social behavior
2566	GABRG2	HP:0000466	Limited neck range of motion
2566	GABRG2	HP:0001763	Pes planus
2566	GABRG2	HP:0000508	Ptosis
2566	GABRG2	HP:0000504	Abnormality of vision
2566	GABRG2	HP:0012557	EEG with centrotemporal focal spike waves
2566	GABRG2	HP:0012547	Abnormal involuntary eye movements
2566	GABRG2	HP:0012534	Dysesthesia
2566	GABRG2	HP:0000546	Retinal degeneration
2571	GAD1	HP:0002487	Hyperkinetic movements
2571	GAD1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
2571	GAD1	HP:0010851	EEG with burst suppression
2571	GAD1	HP:0001276	Hypertonia
2571	GAD1	HP:0001272	Cerebellar atrophy
2571	GAD1	HP:0001263	Global developmental delay
2571	GAD1	HP:0001257	Spasticity
2571	GAD1	HP:0008665	Clitoral hypertrophy
2571	GAD1	HP:0002553	Highly arched eyebrow
2571	GAD1	HP:0002521	Hypsarrhythmia
2571	GAD1	HP:0003819	Death in childhood
2571	GAD1	HP:0003811	Neonatal death
2571	GAD1	HP:0000064	Hypoplastic labia minora
2571	GAD1	HP:0000059	Hypoplastic labia majora
2571	GAD1	HP:0001371	Flexion contracture
2571	GAD1	HP:0001347	Hyperreflexia
2571	GAD1	HP:0001332	Dystonia
2571	GAD1	HP:0000007	Autosomal recessive inheritance
2571	GAD1	HP:0002650	Scoliosis
2571	GAD1	HP:0000175	Cleft palate
2571	GAD1	HP:0008936	Axial hypotonia
2571	GAD1	HP:0002079	Hypoplasia of the corpus callosum
2571	GAD1	HP:0002059	Cerebral atrophy
2571	GAD1	HP:0002187	Intellectual disability, profound
2571	GAD1	HP:0003593	Infantile onset
2571	GAD1	HP:0002273	Tetraparesis
2571	GAD1	HP:0010722	Asymmetry of the ears
2571	GAD1	HP:0009826	Limb undergrowth
2571	GAD1	HP:0003623	Neonatal onset
2571	GAD1	HP:0000774	Narrow chest
2571	GAD1	HP:0045075	Sparse eyebrow
2571	GAD1	HP:0000256	Macrocephaly
2571	GAD1	HP:0000219	Thin upper lip vermilion
2571	GAD1	HP:0001539	Omphalocele
2571	GAD1	HP:0011097	Epileptic spasm
2571	GAD1	HP:0012368	Flat face
2571	GAD1	HP:0000369	Low-set ears
2571	GAD1	HP:0000343	Long philtrum
2571	GAD1	HP:0032794	Myoclonic seizure
2571	GAD1	HP:0000319	Smooth philtrum
2571	GAD1	HP:0000316	Hypertelorism
2571	GAD1	HP:0000308	Microretrognathia
2571	GAD1	HP:0005280	Depressed nasal bridge
2571	GAD1	HP:0000494	Downslanted palpebral fissures
2571	GAD1	HP:0000463	Anteverted nares
2571	GAD1	HP:0001762	Talipes equinovarus
2571	GAD1	HP:0000431	Wide nasal bridge
2571	GAD1	HP:0000582	Upslanted palpebral fissure
2581	GALC	HP:0002492	Morphological abnormality of the corticospinal tract
2581	GALC	HP:0002493	Upper motor neuron dysfunction
2581	GALC	HP:0002445	Tetraplegia
2581	GALC	HP:0007305	CNS demyelination
2581	GALC	HP:0100963	Hyperesthesia
2581	GALC	HP:0002421	Poor head control
2581	GALC	HP:0002418	Abnormal midbrain morphology
2581	GALC	HP:0001298	Encephalopathy
2581	GALC	HP:0001276	Hypertonia
2581	GALC	HP:0001273	Abnormal corpus callosum morphology
2581	GALC	HP:0001270	Motor delay
2581	GALC	HP:0001268	Mental deterioration
2581	GALC	HP:0001288	Gait disturbance
2581	GALC	HP:0001250	Seizure
2581	GALC	HP:0001252	Hypotonia
2581	GALC	HP:0001251	Ataxia
2581	GALC	HP:0001265	Hyporeflexia
2581	GALC	HP:0001264	Spastic diplegia
2581	GALC	HP:0001260	Dysarthria
2581	GALC	HP:0001263	Global developmental delay
2581	GALC	HP:0001257	Spasticity
2581	GALC	HP:0007361	Abnormal pons morphology
2581	GALC	HP:0007340	Lower limb muscle weakness
2581	GALC	HP:0002518	Abnormal periventricular white matter morphology
2581	GALC	HP:0002516	Increased intracranial pressure
2581	GALC	HP:0002506	Diffuse cerebral atrophy
2581	GALC	HP:0002505	Loss of ambulation
2581	GALC	HP:0031006	Acroparesthesia
2581	GALC	HP:0000020	Urinary incontinence
2581	GALC	HP:0001350	Slurred speech
2581	GALC	HP:0001347	Hyperreflexia
2581	GALC	HP:0031161	Reduced brain glutamate level by MRS
2581	GALC	HP:0001324	Muscle weakness
2581	GALC	HP:0000007	Autosomal recessive inheritance
2581	GALC	HP:0001337	Tremor
2581	GALC	HP:0001336	Myoclonus
2581	GALC	HP:0008936	Axial hypotonia
2581	GALC	HP:0002719	Recurrent infections
2581	GALC	HP:0002020	Gastroesophageal reflux
2581	GALC	HP:0002013	Vomiting
2581	GALC	HP:0005968	Temperature instability
2581	GALC	HP:0002098	Respiratory distress
2581	GALC	HP:0002068	Neuromuscular dysphagia
2581	GALC	HP:0002061	Lower limb spasticity
2581	GALC	HP:0002062	Morphological abnormality of the pyramidal tract
2581	GALC	HP:0003474	Somatic sensory dysfunction
2581	GALC	HP:0003487	Babinski sign
2581	GALC	HP:0003484	Upper limb muscle weakness
2581	GALC	HP:0002123	Generalized myoclonic seizure
2581	GALC	HP:0002136	Broad-based gait
2581	GALC	HP:0002180	Neurodegeneration
2581	GALC	HP:0002191	Progressive spasticity
2581	GALC	HP:0002179	Opisthotonus
2581	GALC	HP:0003593	Infantile onset
2581	GALC	HP:0002273	Tetraparesis
2581	GALC	HP:0003552	Muscle stiffness
2581	GALC	HP:0003547	Shoulder girdle muscle weakness
2581	GALC	HP:0010729	Cherry red spot of the macula
2581	GALC	HP:0007018	Attention deficit hyperactivity disorder
2581	GALC	HP:0011968	Feeding difficulties
2581	GALC	HP:0001053	Hypopigmented skin patches
2581	GALC	HP:0025013	Decerebrate rigidity
2581	GALC	HP:0002361	Psychomotor deterioration
2581	GALC	HP:0002359	Frequent falls
2581	GALC	HP:0002376	Developmental regression
2581	GALC	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2581	GALC	HP:0002371	Loss of speech
2581	GALC	HP:0002344	Progressive neurologic deterioration
2581	GALC	HP:0002355	Difficulty walking
2581	GALC	HP:0002353	EEG abnormality
2581	GALC	HP:0002313	Spastic paraparesis
2581	GALC	HP:0002333	Motor deterioration
2581	GALC	HP:0010846	EEG with persistent abnormal rhythmic activity
2581	GALC	HP:0010830	Impaired tactile sensation
2581	GALC	HP:0009830	Peripheral neuropathy
2581	GALC	HP:0100639	Erectile dysfunction
2581	GALC	HP:0007141	Sensorimotor neuropathy
2581	GALC	HP:0007103	Hypointensity of cerebral white matter on MRI
2581	GALC	HP:0002301	Hemiplegia
2581	GALC	HP:0002312	Clumsiness
2581	GALC	HP:0007199	Progressive spastic paraparesis
2581	GALC	HP:0031860	Abnormal heart rate variability
2581	GALC	HP:0006801	Hyperactive deep tendon reflexes
2581	GALC	HP:0000639	Nystagmus
2581	GALC	HP:0000649	Abnormality of visual evoked potentials
2581	GALC	HP:0000648	Optic atrophy
2581	GALC	HP:0001973	Autoimmune thrombocytopenia
2581	GALC	HP:0000618	Blindness
2581	GALC	HP:0000613	Photophobia
2581	GALC	HP:0001955	Unexplained fevers
2581	GALC	HP:0001954	Recurrent fever
2581	GALC	HP:0009062	Infantile axial hypotonia
2581	GALC	HP:0004326	Cachexia
2581	GALC	HP:0004302	Functional motor deficit
2581	GALC	HP:0031993	Hoffmann sign
2581	GALC	HP:0011400	Abnormal CNS myelination
2581	GALC	HP:0000762	Decreased nerve conduction velocity
2581	GALC	HP:0000737	Irritability
2581	GALC	HP:0012706	Elevated brain choline level by MRS
2581	GALC	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
2581	GALC	HP:0000712	Emotional lability
2581	GALC	HP:0011470	Nasogastric tube feeding in infancy
2581	GALC	HP:0011463	Childhood onset
2581	GALC	HP:0011462	Young adult onset
2581	GALC	HP:0011448	Ankle clonus
2581	GALC	HP:0011441	Abnormal medulla oblongata morphology
2581	GALC	HP:0004466	Prolonged brainstem auditory evoked potentials
2581	GALC	HP:0034322	Reduced galactocerebrosidase activity
2581	GALC	HP:0040194	Increased head circumference
2581	GALC	HP:0040195	Decreased head circumference
2581	GALC	HP:0000238	Hydrocephalus
2581	GALC	HP:0002878	Respiratory failure
2581	GALC	HP:0001508	Failure to thrive
2581	GALC	HP:0011096	Peripheral demyelination
2581	GALC	HP:0012379	Abnormal circulating enzyme concentration or activity
2581	GALC	HP:0001601	Laryngomalacia
2581	GALC	HP:0002922	Increased CSF protein concentration
2581	GALC	HP:0000365	Hearing impairment
2581	GALC	HP:0007928	Abnormal flash visual evoked potentials
2581	GALC	HP:0030215	Inappropriate crying
2581	GALC	HP:0030211	Slow pupillary light response
2581	GALC	HP:0000467	Neck muscle weakness
2581	GALC	HP:0001761	Pes cavus
2581	GALC	HP:0000505	Visual impairment
2581	GALC	HP:0000572	Visual loss
2581	GALC	HP:0000565	Esotropia
2582	GALE	HP:0001290	Generalized hypotonia
2582	GALE	HP:0001252	Hypotonia
2582	GALE	HP:0001249	Intellectual disability
2582	GALE	HP:0001263	Global developmental delay
2582	GALE	HP:0012023	Galactosuria
2582	GALE	HP:0012024	Hypergalactosemia
2582	GALE	HP:0000007	Autosomal recessive inheritance
2582	GALE	HP:0003355	Aminoaciduria
2582	GALE	HP:0002013	Vomiting
2582	GALE	HP:0008166	Decreased beta-galactosidase activity
2582	GALE	HP:0002194	Delayed gross motor development
2582	GALE	HP:0002240	Hepatomegaly
2582	GALE	HP:0000750	Delayed speech and language development
2582	GALE	HP:0011463	Childhood onset
2582	GALE	HP:0000952	Jaundice
2582	GALE	HP:0001508	Failure to thrive
2582	GALE	HP:0000407	Sensorineural hearing impairment
2582	GALE	HP:0001744	Splenomegaly
2583	B4GALNT1	HP:0002495	Impaired vibratory sensation
2583	B4GALNT1	HP:0001288	Gait disturbance
2583	B4GALNT1	HP:0001256	Intellectual disability, mild
2583	B4GALNT1	HP:0001251	Ataxia
2583	B4GALNT1	HP:0001249	Intellectual disability
2583	B4GALNT1	HP:0001265	Hyporeflexia
2583	B4GALNT1	HP:0001260	Dysarthria
2583	B4GALNT1	HP:0001258	Spastic paraplegia
2583	B4GALNT1	HP:0007340	Lower limb muscle weakness
2583	B4GALNT1	HP:0000079	Abnormality of the urinary system
2583	B4GALNT1	HP:0001347	Hyperreflexia
2583	B4GALNT1	HP:0001332	Dystonia
2583	B4GALNT1	HP:0001324	Muscle weakness
2583	B4GALNT1	HP:0000012	Urinary urgency
2583	B4GALNT1	HP:0000007	Autosomal recessive inheritance
2583	B4GALNT1	HP:0001310	Dysmetria
2583	B4GALNT1	HP:0002650	Scoliosis
2583	B4GALNT1	HP:0001317	Abnormal cerebellum morphology
2583	B4GALNT1	HP:0008944	Distal lower limb amyotrophy
2583	B4GALNT1	HP:0002064	Spastic gait
2583	B4GALNT1	HP:0002061	Lower limb spasticity
2583	B4GALNT1	HP:0003487	Babinski sign
2583	B4GALNT1	HP:0003484	Upper limb muscle weakness
2583	B4GALNT1	HP:0002120	Cerebral cortical atrophy
2583	B4GALNT1	HP:0008209	Premature ovarian insufficiency
2583	B4GALNT1	HP:0003593	Infantile onset
2583	B4GALNT1	HP:0007024	Pseudobulbar paralysis
2583	B4GALNT1	HP:0002359	Frequent falls
2583	B4GALNT1	HP:0003676	Progressive
2583	B4GALNT1	HP:0002355	Difficulty walking
2583	B4GALNT1	HP:0100660	Dyskinesia
2583	B4GALNT1	HP:0007141	Sensorimotor neuropathy
2583	B4GALNT1	HP:0000639	Nystagmus
2583	B4GALNT1	HP:0006986	Upper limb spasticity
2583	B4GALNT1	HP:0006938	Impaired vibration sensation at ankles
2583	B4GALNT1	HP:0100020	Posterior capsular cataract
2583	B4GALNT1	HP:0000712	Emotional lability
2583	B4GALNT1	HP:0011463	Childhood onset
2583	B4GALNT1	HP:0030890	Hyperintensity of cerebral white matter on MRI
2583	B4GALNT1	HP:0003202	Skeletal muscle atrophy
2583	B4GALNT1	HP:0040171	Decreased serum testosterone concentration
2583	B4GALNT1	HP:0030051	Tip-toe gait
2583	B4GALNT1	HP:0001761	Pes cavus
2583	B4GALNT1	HP:0025708	Early young adult onset
2583	B4GALNT1	HP:0000518	Cataract
2584	GALK1	HP:0001270	Motor delay
2584	GALK1	HP:0001250	Seizure
2584	GALK1	HP:0001249	Intellectual disability
2584	GALK1	HP:0002516	Increased intracranial pressure
2584	GALK1	HP:0012023	Galactosuria
2584	GALK1	HP:0012024	Hypergalactosemia
2584	GALK1	HP:0000007	Autosomal recessive inheritance
2584	GALK1	HP:0410062	Increased level of galactitol in urine
2584	GALK1	HP:0410061	Increased level of galactitol in plasma
2584	GALK1	HP:0001433	Hepatosplenomegaly
2584	GALK1	HP:0008209	Premature ovarian insufficiency
2584	GALK1	HP:0002240	Hepatomegaly
2584	GALK1	HP:0011968	Feeding difficulties
2584	GALK1	HP:0002361	Psychomotor deterioration
2584	GALK1	HP:0001943	Hypoglycemia
2584	GALK1	HP:0100018	Nuclear cataract
2584	GALK1	HP:0012768	Neonatal asphyxia
2584	GALK1	HP:0003124	Hypercholesterolemia
2584	GALK1	HP:0004431	Complement deficiency
2584	GALK1	HP:0000842	Hyperinsulinemia
2584	GALK1	HP:0000815	Hypergonadotropic hypogonadism
2584	GALK1	HP:0000252	Microcephaly
2584	GALK1	HP:0001508	Failure to thrive
2584	GALK1	HP:0001518	Small for gestational age
2584	GALK1	HP:0011098	Speech apraxia
2584	GALK1	HP:0012379	Abnormal circulating enzyme concentration or activity
2584	GALK1	HP:0006579	Prolonged neonatal jaundice
2584	GALK1	HP:0001622	Premature birth
2584	GALK1	HP:0000407	Sensorineural hearing impairment
2584	GALK1	HP:0000518	Cataract
2588	GALNS	HP:0001270	Motor delay
2588	GALNS	HP:0001249	Intellectual disability
2588	GALNS	HP:0001223	Pointed proximal second through fifth metacarpals
2588	GALNS	HP:0002515	Waddling gait
2588	GALNS	HP:0012070	Chondroitin sulfate excretion in urine
2588	GALNS	HP:0012069	Keratan sulfate excretion in urine
2588	GALNS	HP:0001388	Joint laxity
2588	GALNS	HP:0000023	Inguinal hernia
2588	GALNS	HP:0002673	Coxa valga
2588	GALNS	HP:0000007	Autosomal recessive inheritance
2588	GALNS	HP:0002650	Scoliosis
2588	GALNS	HP:0000154	Wide mouth
2588	GALNS	HP:0002788	Recurrent upper respiratory tract infections
2588	GALNS	HP:0003311	Hypoplasia of the odontoid process
2588	GALNS	HP:0003307	Hyperlordosis
2588	GALNS	HP:0003308	Cervical subluxation
2588	GALNS	HP:0003300	Ovoid vertebral bodies
2588	GALNS	HP:0002091	Restrictive ventilatory defect
2588	GALNS	HP:0003593	Infantile onset
2588	GALNS	HP:0002240	Hepatomegaly
2588	GALNS	HP:0003521	Disproportionate short-trunk short stature
2588	GALNS	HP:0002318	Cervical myelopathy
2588	GALNS	HP:0008454	Lumbar kyphosis
2588	GALNS	HP:0008430	Anterior beaking of lumbar vertebrae
2588	GALNS	HP:0003621	Juvenile onset
2588	GALNS	HP:4000007	Bronchoconstriction
2588	GALNS	HP:0000683	Grayish enamel
2588	GALNS	HP:0000687	Widely spaced teeth
2588	GALNS	HP:0000670	Carious teeth
2588	GALNS	HP:0003053	Epiphyseal deformities of tubular bones
2588	GALNS	HP:0003049	Ulnar deviation of the wrist
2588	GALNS	HP:0003016	Metaphyseal widening
2588	GALNS	HP:0031936	Delayed ability to walk
2588	GALNS	HP:0000768	Pectus carinatum
2588	GALNS	HP:0000926	Platyspondyly
2588	GALNS	HP:0000904	Flaring of rib cage
2588	GALNS	HP:0000884	Prominent sternum
2588	GALNS	HP:0030865	Large elbow
2588	GALNS	HP:0003277	Constricted iliac wing
2588	GALNS	HP:0000939	Osteoporosis
2588	GALNS	HP:0000943	Dysostosis multiplex
2588	GALNS	HP:0000280	Coarse facial features
2588	GALNS	HP:0007759	Opacification of the corneal stroma
2588	GALNS	HP:0002808	Kyphosis
2588	GALNS	HP:0002857	Genu valgum
2588	GALNS	HP:0006532	Recurrent pneumonia
2588	GALNS	HP:0000365	Hearing impairment
2588	GALNS	HP:0001654	Abnormal heart valve morphology
2588	GALNS	HP:0000303	Mandibular prognathia
2588	GALNS	HP:0000470	Short neck
2590	GALNT2	HP:0010864	Intellectual disability, severe
2590	GALNT2	HP:0001290	Generalized hypotonia
2590	GALNT2	HP:0001250	Seizure
2590	GALNT2	HP:0001263	Global developmental delay
2590	GALNT2	HP:0002500	Abnormal cerebral white matter morphology
2590	GALNT2	HP:0025336	Delayed ability to sit
2590	GALNT2	HP:0000020	Urinary incontinence
2590	GALNT2	HP:0031165	Multifocal seizures
2590	GALNT2	HP:0000007	Autosomal recessive inheritance
2590	GALNT2	HP:0012153	Hypotriglyceridemia
2590	GALNT2	HP:0012101	Decreased serum creatinine
2590	GALNT2	HP:0002019	Constipation
2590	GALNT2	HP:0100512	Low levels of vitamin D
2590	GALNT2	HP:0002194	Delayed gross motor development
2590	GALNT2	HP:0100785	Insomnia
2590	GALNT2	HP:0011968	Feeding difficulties
2590	GALNT2	HP:0010804	Tented upper lip vermilion
2590	GALNT2	HP:0200055	Small hand
2590	GALNT2	HP:0000639	Nystagmus
2590	GALNT2	HP:0012683	Pineal cyst
2590	GALNT2	HP:0004322	Short stature
2590	GALNT2	HP:0031936	Delayed ability to walk
2590	GALNT2	HP:0000750	Delayed speech and language development
2590	GALNT2	HP:0000729	Autistic behavior
2590	GALNT2	HP:0003233	Decreased HDL cholesterol concentration
2590	GALNT2	HP:0000276	Long face
2590	GALNT2	HP:0000252	Microcephaly
2590	GALNT2	HP:0000248	Brachycephaly
2590	GALNT2	HP:0012358	Abnormal protein O-linked glycosylation
2590	GALNT2	HP:0000358	Posteriorly rotated ears
2590	GALNT2	HP:0000369	Low-set ears
2590	GALNT2	HP:0000348	High forehead
2590	GALNT2	HP:0000316	Hypertelorism
2590	GALNT2	HP:0000322	Short philtrum
2590	GALNT2	HP:0000405	Conductive hearing impairment
2590	GALNT2	HP:0000483	Astigmatism
2590	GALNT2	HP:0012471	Thick vermilion border
2590	GALNT2	HP:0000494	Downslanted palpebral fissures
2590	GALNT2	HP:0001773	Short foot
2590	GALNT2	HP:0000426	Prominent nasal bridge
2590	GALNT2	HP:0031717	Alternating exotropia
2590	GALNT2	HP:0001852	Sandal gap
2590	GALNT2	HP:0001891	Iron deficiency anemia
2591	GALNT3	HP:0003771	Pulp calcification
2591	GALNT3	HP:0001102	Angioid streaks of the fundus
2591	GALNT3	HP:0003761	Calcinosis
2591	GALNT3	HP:0000007	Autosomal recessive inheritance
2591	GALNT3	HP:0006297	Enamel hypoplasia
2591	GALNT3	HP:0000121	Nephrocalcinosis
2591	GALNT3	HP:0100774	Hyperostosis
2591	GALNT3	HP:0004934	Vascular calcification
2591	GALNT3	HP:0003621	Juvenile onset
2591	GALNT3	HP:0005572	Decreased renal tubular phosphate excretion
2591	GALNT3	HP:0005571	Increased renal tubular phosphate reabsorption
2591	GALNT3	HP:0000679	Taurodontia
2591	GALNT3	HP:0003072	Hypercalcemia
2591	GALNT3	HP:0000843	Hyperparathyroidism
2591	GALNT3	HP:0031415	High serum calcitriol
2591	GALNT3	HP:0007799	Conjunctival whitish salt-like deposits
2591	GALNT3	HP:0002905	Hyperphosphatemia
2591	GALNT3	HP:0031485	Subperiosteal bone formation
2592	GALT	HP:0001298	Encephalopathy
2592	GALT	HP:0100806	Sepsis
2592	GALT	HP:0001268	Mental deterioration
2592	GALT	HP:0001288	Gait disturbance
2592	GALT	HP:0001254	Lethargy
2592	GALT	HP:0001256	Intellectual disability, mild
2592	GALT	HP:0001250	Seizure
2592	GALT	HP:0001251	Ataxia
2592	GALT	HP:0001249	Intellectual disability
2592	GALT	HP:0001260	Dysarthria
2592	GALT	HP:0001263	Global developmental delay
2592	GALT	HP:0001399	Hepatic failure
2592	GALT	HP:0001394	Cirrhosis
2592	GALT	HP:0012023	Galactosuria
2592	GALT	HP:0012024	Hypergalactosemia
2592	GALT	HP:0000028	Cryptorchidism
2592	GALT	HP:0001332	Dystonia
2592	GALT	HP:0001328	Specific learning disability
2592	GALT	HP:0000007	Autosomal recessive inheritance
2592	GALT	HP:0410064	Increased level of galactitol in red blood cells
2592	GALT	HP:0410062	Increased level of galactitol in urine
2592	GALT	HP:0410063	Increased level of galactonate in red blood cells
2592	GALT	HP:0410061	Increased level of galactitol in plasma
2592	GALT	HP:0001410	Decreased liver function
2592	GALT	HP:0003355	Aminoaciduria
2592	GALT	HP:0002014	Diarrhea
2592	GALT	HP:0002013	Vomiting
2592	GALT	HP:0100512	Low levels of vitamin D
2592	GALT	HP:0002141	Gait imbalance
2592	GALT	HP:0002174	Postural tremor
2592	GALT	HP:0008209	Premature ovarian insufficiency
2592	GALT	HP:0002240	Hepatomegaly
2592	GALT	HP:0007018	Attention deficit hyperactivity disorder
2592	GALT	HP:0011968	Feeding difficulties
2592	GALT	HP:0002345	Action tremor
2592	GALT	HP:0020110	Bone fracture
2592	GALT	HP:0002311	Incoordination
2592	GALT	HP:0002312	Clumsiness
2592	GALT	HP:0004918	Hyperchloremic metabolic acidosis
2592	GALT	HP:0009088	Speech articulation difficulties
2592	GALT	HP:0001943	Hypoglycemia
2592	GALT	HP:0001942	Metabolic acidosis
2592	GALT	HP:0001928	Abnormality of coagulation
2592	GALT	HP:0006977	Deficit in grammar
2592	GALT	HP:0031956	Elevated circulating aspartate aminotransferase concentration
2592	GALT	HP:0031964	Elevated circulating alanine aminotransferase concentration
2592	GALT	HP:0004349	Reduced bone mineral density
2592	GALT	HP:0000739	Anxiety
2592	GALT	HP:0000750	Delayed speech and language development
2592	GALT	HP:0000716	Depression
2592	GALT	HP:0000729	Autistic behavior
2592	GALT	HP:0000707	Abnormality of the nervous system
2592	GALT	HP:0011446	Abnormality of higher mental function
2592	GALT	HP:0000786	Primary amenorrhea
2592	GALT	HP:0000876	Oligomenorrhea
2592	GALT	HP:0000869	Secondary amenorrhea
2592	GALT	HP:0000868	Decreased fertility in females
2592	GALT	HP:0000815	Hypergonadotropic hypogonadism
2592	GALT	HP:0000823	Delayed puberty
2592	GALT	HP:0003251	Male infertility
2592	GALT	HP:0000952	Jaundice
2592	GALT	HP:0000939	Osteoporosis
2592	GALT	HP:0001541	Ascites
2592	GALT	HP:0001508	Failure to thrive
2592	GALT	HP:0011098	Speech apraxia
2592	GALT	HP:0012379	Abnormal circulating enzyme concentration or activity
2592	GALT	HP:0002910	Elevated hepatic transaminase
2592	GALT	HP:0030272	Abnormal erythrocyte enzyme level
2592	GALT	HP:0000518	Cataract
2592	GALT	HP:0012592	Albuminuria
2592	GALT	HP:0030353	Decreased serum insulin-like growth factor 1
2592	GALT	HP:0012537	Food intolerance
2592	GALT	HP:0001878	Hemolytic anemia
2593	GAMT	HP:0002465	Poor speech
2593	GAMT	HP:0002457	Abnormal head movements
2593	GAMT	HP:0010864	Intellectual disability, severe
2593	GAMT	HP:0001276	Hypertonia
2593	GAMT	HP:0001250	Seizure
2593	GAMT	HP:0001252	Hypotonia
2593	GAMT	HP:0001251	Ataxia
2593	GAMT	HP:0001249	Intellectual disability
2593	GAMT	HP:0001263	Global developmental delay
2593	GAMT	HP:0002572	Episodic vomiting
2593	GAMT	HP:0001347	Hyperreflexia
2593	GAMT	HP:0001332	Dystonia
2593	GAMT	HP:0001344	Absent speech
2593	GAMT	HP:0000007	Autosomal recessive inheritance
2593	GAMT	HP:0001337	Tremor
2593	GAMT	HP:0001336	Myoclonus
2593	GAMT	HP:0008947	Infantile muscular hypotonia
2593	GAMT	HP:0012101	Decreased serum creatinine
2593	GAMT	HP:0002069	Bilateral tonic-clonic seizure
2593	GAMT	HP:0002063	Rigidity
2593	GAMT	HP:0002061	Lower limb spasticity
2593	GAMT	HP:0002072	Chorea
2593	GAMT	HP:0002071	Abnormality of extrapyramidal motor function
2593	GAMT	HP:0002123	Generalized myoclonic seizure
2593	GAMT	HP:0003593	Infantile onset
2593	GAMT	HP:0100716	Self-injurious behavior
2593	GAMT	HP:0002384	Focal impaired awareness seizure
2593	GAMT	HP:0002385	Paraparesis
2593	GAMT	HP:0002376	Developmental regression
2593	GAMT	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2593	GAMT	HP:0010819	Atonic seizure
2593	GAMT	HP:0025051	Reduced brain creatine level by MRS
2593	GAMT	HP:0007153	Progressive extrapyramidal movement disorder
2593	GAMT	HP:0002305	Athetosis
2593	GAMT	HP:0011344	Severe global developmental delay
2593	GAMT	HP:0000752	Hyperactivity
2593	GAMT	HP:0100022	Abnormality of movement
2593	GAMT	HP:0000750	Delayed speech and language development
2593	GAMT	HP:0000718	Aggressive behavior
2593	GAMT	HP:0000717	Autism
2593	GAMT	HP:0000708	Atypical behavior
2593	GAMT	HP:0034321	Elevated circulating guanidinoacetic acid concentration
2615	LRRC32	HP:0001290	Generalized hypotonia
2615	LRRC32	HP:0001263	Global developmental delay
2615	LRRC32	HP:0001338	Partial agenesis of the corpus callosum
2615	LRRC32	HP:0000007	Autosomal recessive inheritance
2615	LRRC32	HP:0001320	Cerebellar vermis hypoplasia
2615	LRRC32	HP:0000175	Cleft palate
2615	LRRC32	HP:0008936	Axial hypotonia
2615	LRRC32	HP:0011800	Midface retrusion
2615	LRRC32	HP:0002119	Ventriculomegaly
2615	LRRC32	HP:0010535	Sleep apnea
2615	LRRC32	HP:0002389	Cavum septum pellucidum
2615	LRRC32	HP:0001047	Atopic dermatitis
2615	LRRC32	HP:0030666	Retinal neovascularization
2615	LRRC32	HP:0031936	Delayed ability to walk
2615	LRRC32	HP:0000750	Delayed speech and language development
2615	LRRC32	HP:0001511	Intrauterine growth retardation
2615	LRRC32	HP:0000365	Hearing impairment
2615	LRRC32	HP:0000347	Micrognathia
2615	LRRC32	HP:0000322	Short philtrum
2615	LRRC32	HP:0000486	Strabismus
2615	LRRC32	HP:0000545	Myopia
2617	GARS1	HP:0002495	Impaired vibratory sensation
2617	GARS1	HP:0002460	Distal muscle weakness
2617	GARS1	HP:0001290	Generalized hypotonia
2617	GARS1	HP:0001270	Motor delay
2617	GARS1	HP:0001284	Areflexia
2617	GARS1	HP:0001265	Hyporeflexia
2617	GARS1	HP:0007340	Lower limb muscle weakness
2617	GARS1	HP:0003803	Type 1 muscle fiber predominance
2617	GARS1	HP:0001347	Hyperreflexia
2617	GARS1	HP:0001324	Muscle weakness
2617	GARS1	HP:0000006	Autosomal dominant inheritance
2617	GARS1	HP:0002650	Scoliosis
2617	GARS1	HP:0002093	Respiratory insufficiency
2617	GARS1	HP:0003392	First dorsal interossei muscle weakness
2617	GARS1	HP:0003393	Thenar muscle atrophy
2617	GARS1	HP:0003484	Upper limb muscle weakness
2617	GARS1	HP:0003426	First dorsal interossei muscle atrophy
2617	GARS1	HP:0003427	Thenar muscle weakness
2617	GARS1	HP:0003435	Cold-induced hand cramps
2617	GARS1	HP:0002172	Postural instability
2617	GARS1	HP:0010546	Muscle fibrillation
2617	GARS1	HP:0003593	Infantile onset
2617	GARS1	HP:0003557	Increased variability in muscle fiber diameter
2617	GARS1	HP:0003693	Distal amyotrophy
2617	GARS1	HP:0003677	Slowly progressive
2617	GARS1	HP:0002317	Unsteady gait
2617	GARS1	HP:0009830	Peripheral neuropathy
2617	GARS1	HP:0007178	Motor polyneuropathy
2617	GARS1	HP:0009053	Distal lower limb muscle weakness
2617	GARS1	HP:0004322	Short stature
2617	GARS1	HP:0031936	Delayed ability to walk
2617	GARS1	HP:0011462	Young adult onset
2617	GARS1	HP:0009129	Upper limb amyotrophy
2617	GARS1	HP:0003273	Hip contracture
2617	GARS1	HP:0040131	Abnormal motor nerve conduction velocity
2617	GARS1	HP:0008081	Pes valgus
2617	GARS1	HP:0002938	Lumbar hyperlordosis
2617	GARS1	HP:0002936	Distal sensory impairment
2617	GARS1	HP:0001621	Weak voice
2617	GARS1	HP:0001763	Pes planus
2617	GARS1	HP:0001765	Hammertoe
2617	GARS1	HP:0001761	Pes cavus
2619	GAS1	HP:0002465	Poor speech
2619	GAS1	HP:0002474	Expressive language delay
2619	GAS1	HP:0002451	Limb dystonia
2619	GAS1	HP:0007301	Oromotor apraxia
2619	GAS1	HP:0009932	Single naris
2619	GAS1	HP:0009914	Cyclopia
2619	GAS1	HP:0002418	Abnormal midbrain morphology
2619	GAS1	HP:0001290	Generalized hypotonia
2619	GAS1	HP:0001274	Agenesis of corpus callosum
2619	GAS1	HP:0001273	Abnormal corpus callosum morphology
2619	GAS1	HP:0001254	Lethargy
2619	GAS1	HP:0001250	Seizure
2619	GAS1	HP:0001249	Intellectual disability
2619	GAS1	HP:0001257	Spasticity
2619	GAS1	HP:0008736	Hypoplasia of penis
2619	GAS1	HP:0007375	Abnormal septum pellucidum morphology
2619	GAS1	HP:0002540	Inability to walk
2619	GAS1	HP:0000062	Ambiguous genitalia
2619	GAS1	HP:0001371	Flexion contracture
2619	GAS1	HP:0001355	Megalencephaly
2619	GAS1	HP:0001360	Holoprosencephaly
2619	GAS1	HP:0001328	Specific learning disability
2619	GAS1	HP:0001344	Absent speech
2619	GAS1	HP:0002650	Scoliosis
2619	GAS1	HP:0000193	Bifid uvula
2619	GAS1	HP:0000161	Median cleft lip
2619	GAS1	HP:0000175	Cleft palate
2619	GAS1	HP:0006315	Solitary median maxillary central incisor
2619	GAS1	HP:0008947	Infantile muscular hypotonia
2619	GAS1	HP:0012110	Hypoplasia of the pons
2619	GAS1	HP:0000119	Abnormality of the genitourinary system
2619	GAS1	HP:0002793	Abnormal pattern of respiration
2619	GAS1	HP:0000104	Renal agenesis
2619	GAS1	HP:0002020	Gastroesophageal reflux
2619	GAS1	HP:0002019	Constipation
2619	GAS1	HP:0002033	Poor suck
2619	GAS1	HP:0002015	Dysphagia
2619	GAS1	HP:0002013	Vomiting
2619	GAS1	HP:0040327	Abnormal morphology of the olfactory bulb
2619	GAS1	HP:0005968	Temperature instability
2619	GAS1	HP:0002099	Asthma
2619	GAS1	HP:0011787	Central hypothyroidism
2619	GAS1	HP:0003468	Abnormal vertebral morphology
2619	GAS1	HP:0003458	EMG: myopathic abnormalities
2619	GAS1	HP:0002270	Abnormality of the autonomic nervous system
2619	GAS1	HP:0100704	Cerebral visual impairment
2619	GAS1	HP:0100710	Impulsivity
2619	GAS1	HP:0002247	Duodenal atresia
2619	GAS1	HP:0010654	Aplasia of the falx cerebri
2619	GAS1	HP:0007018	Attention deficit hyperactivity disorder
2619	GAS1	HP:0010644	Midnasal stenosis
2619	GAS1	HP:0011968	Feeding difficulties
2619	GAS1	HP:0011951	Aspiration pneumonia
2619	GAS1	HP:0002363	Abnormal brainstem morphology
2619	GAS1	HP:0001028	Hemangioma
2619	GAS1	HP:0010804	Tented upper lip vermilion
2619	GAS1	HP:0009800	Maternal diabetes
2619	GAS1	HP:0031860	Abnormal heart rate variability
2619	GAS1	HP:0000612	Iris coloboma
2619	GAS1	HP:0000601	Hypotelorism
2619	GAS1	HP:0009062	Infantile axial hypotonia
2619	GAS1	HP:0012650	Perisylvian polymicrogyria
2619	GAS1	HP:0004322	Short stature
2619	GAS1	HP:0006979	Sleep-wake cycle disturbance
2619	GAS1	HP:0030680	Abnormality of cardiovascular system morphology
2619	GAS1	HP:0031913	Rhombencephalosynapsis
2619	GAS1	HP:0000772	Abnormal rib morphology
2619	GAS1	HP:0000737	Irritability
2619	GAS1	HP:0000739	Anxiety
2619	GAS1	HP:0000736	Short attention span
2619	GAS1	HP:0012718	Morphological abnormality of the gastrointestinal tract
2619	GAS1	HP:0000741	Apathy
2619	GAS1	HP:0000716	Depression
2619	GAS1	HP:0000708	Atypical behavior
2619	GAS1	HP:0011471	Gastrostomy tube feeding in infancy
2619	GAS1	HP:0011442	Abnormal central motor function
2619	GAS1	HP:0003196	Short nose
2619	GAS1	HP:0000924	Abnormality of the skeletal system
2619	GAS1	HP:0004478	Ethmoidal encephalocele
2619	GAS1	HP:0000873	Diabetes insipidus
2619	GAS1	HP:0000871	Panhypopituitarism
2619	GAS1	HP:0000863	Central diabetes insipidus
2619	GAS1	HP:0000830	Anterior hypopituitarism
2619	GAS1	HP:0012806	Proboscis
2619	GAS1	HP:0000818	Abnormality of the endocrine system
2619	GAS1	HP:0000826	Precocious puberty
2619	GAS1	HP:0000821	Hypothyroidism
2619	GAS1	HP:0000824	Decreased response to growth hormone stimulation test
2619	GAS1	HP:0040064	Abnormality of limbs
2619	GAS1	HP:0045005	Neural tube defect
2619	GAS1	HP:0012285	Abnormal hypothalamus physiology
2619	GAS1	HP:0000256	Macrocephaly
2619	GAS1	HP:0002827	Hip dislocation
2619	GAS1	HP:0000238	Hydrocephalus
2619	GAS1	HP:0000252	Microcephaly
2619	GAS1	HP:0000218	High palate
2619	GAS1	HP:0001545	Anteriorly placed anus
2619	GAS1	HP:0002871	Central apnea
2619	GAS1	HP:0000202	Orofacial cleft
2619	GAS1	HP:0001508	Failure to thrive
2619	GAS1	HP:0001511	Intrauterine growth retardation
2619	GAS1	HP:0001510	Growth delay
2619	GAS1	HP:0006528	Chronic lung disease
2619	GAS1	HP:0001680	Coarctation of aorta
2619	GAS1	HP:0000322	Short philtrum
2619	GAS1	HP:0001627	Abnormal heart morphology
2619	GAS1	HP:0001622	Premature birth
2619	GAS1	HP:0001636	Tetralogy of Fallot
2619	GAS1	HP:0000407	Sensorineural hearing impairment
2619	GAS1	HP:0000486	Strabismus
2619	GAS1	HP:0000478	Abnormality of the eye
2619	GAS1	HP:0000463	Anteverted nares
2619	GAS1	HP:0000457	Depressed nasal ridge
2619	GAS1	HP:0000453	Choanal atresia
2619	GAS1	HP:0000446	Narrow nasal bridge
2622	GAS8	HP:0025177	Peribronchovascular interstitial thickening
2622	GAS8	HP:0002566	Intestinal malrotation
2622	GAS8	HP:0001217	Clubbing
2622	GAS8	HP:0000007	Autosomal recessive inheritance
2622	GAS8	HP:0002643	Neonatal respiratory distress
2622	GAS8	HP:0002783	Recurrent lower respiratory tract infections
2622	GAS8	HP:0000119	Abnormality of the genitourinary system
2622	GAS8	HP:0032543	Lithoptysis
2622	GAS8	HP:0031245	Productive cough
2622	GAS8	HP:0002011	Morphological central nervous system abnormality
2622	GAS8	HP:0100582	Nasal polyposis
2622	GAS8	HP:0002119	Ventriculomegaly
2622	GAS8	HP:0002110	Bronchiectasis
2622	GAS8	HP:0008222	Female infertility
2622	GAS8	HP:0002257	Chronic rhinitis
2622	GAS8	HP:0100750	Atelectasis
2622	GAS8	HP:0032016	Abnormal sputum
2622	GAS8	HP:0011947	Respiratory tract infection
2622	GAS8	HP:0010772	Anomalous pulmonary venous return
2622	GAS8	HP:0030680	Abnormality of cardiovascular system morphology
2622	GAS8	HP:0012735	Cough
2622	GAS8	HP:0000750	Delayed speech and language development
2622	GAS8	HP:0000924	Abnormality of the skeletal system
2622	GAS8	HP:0011539	Atrial situs ambiguous
2622	GAS8	HP:0011535	Abnormal atrial arrangement
2622	GAS8	HP:0030828	Wheezing
2622	GAS8	HP:0003251	Male infertility
2622	GAS8	HP:0011617	Pulmonary situs ambiguus
2622	GAS8	HP:0025576	Abnormal inferior vena cava morphology
2622	GAS8	HP:0012265	Ciliary dyskinesia
2622	GAS8	HP:0000238	Hydrocephalus
2622	GAS8	HP:0012206	Abnormal sperm motility
2622	GAS8	HP:0002878	Respiratory failure
2622	GAS8	HP:0002837	Recurrent bronchitis
2622	GAS8	HP:0000389	Chronic otitis media
2622	GAS8	HP:0006532	Recurrent pneumonia
2622	GAS8	HP:0006536	Airway obstruction
2622	GAS8	HP:0001696	Situs inversus totalis
2622	GAS8	HP:0000365	Hearing impairment
2622	GAS8	HP:0001669	Transposition of the great arteries
2622	GAS8	HP:0031456	Ectopic pregnancy
2622	GAS8	HP:0001627	Abnormal heart morphology
2622	GAS8	HP:0005301	Persistent left superior vena cava
2622	GAS8	HP:0000403	Recurrent otitis media
2622	GAS8	HP:0000405	Conductive hearing impairment
2622	GAS8	HP:0001719	Double outlet right ventricle
2622	GAS8	HP:0011109	Chronic sinusitis
2622	GAS8	HP:0001746	Asplenia
2622	GAS8	HP:0001748	Polysplenia
2622	GAS8	HP:0001742	Nasal congestion
2622	GAS8	HP:0005425	Recurrent sinopulmonary infections
2622	GAS8	HP:0011274	Recurrent mycobacterial infections
2622	GAS8	HP:0000510	Rod-cone dystrophy
2623	GATA1	HP:0001169	Broad palm
2623	GATA1	HP:0001156	Brachydactyly
2623	GATA1	HP:0009944	Partial duplication of thumb phalanx
2623	GATA1	HP:0001199	Triphalangeal thumb
2623	GATA1	HP:0008551	Microtia
2623	GATA1	HP:0003745	Sporadic
2623	GATA1	HP:0033536	Reduced platelet alpha granules
2623	GATA1	HP:0500115	Increased stool urobilinogen concentration
2623	GATA1	HP:0001254	Lethargy
2623	GATA1	HP:0001252	Hypotonia
2623	GATA1	HP:0001249	Intellectual disability
2623	GATA1	HP:0001227	Abnormality of the thenar eminence
2623	GATA1	HP:0100867	Duodenal stenosis
2623	GATA1	HP:0010972	Anemia of inadequate production
2623	GATA1	HP:0002511	Alzheimer disease
2623	GATA1	HP:0003828	Variable expressivity
2623	GATA1	HP:0000085	Horseshoe kidney
2623	GATA1	HP:0001388	Joint laxity
2623	GATA1	HP:0000047	Hypospadias
2623	GATA1	HP:0000028	Cryptorchidism
2623	GATA1	HP:0007537	Severe photosensitivity
2623	GATA1	HP:0002669	Osteosarcoma
2623	GATA1	HP:0012187	Increased erythrocyte protoporphyrin concentration
2623	GATA1	HP:0000185	Cleft soft palate
2623	GATA1	HP:0000158	Macroglossia
2623	GATA1	HP:0012143	Abnormal megakaryocyte morphology
2623	GATA1	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
2623	GATA1	HP:0012132	Erythroid hyperplasia
2623	GATA1	HP:0012133	Erythroid hypoplasia
2623	GATA1	HP:0012135	Abnormal granulocytopoietic cell morphology
2623	GATA1	HP:0002797	Osteolysis
2623	GATA1	HP:0410030	Cleft lip
2623	GATA1	HP:0500046	Seborrhoeic blepharitis
2623	GATA1	HP:0000119	Abnormality of the genitourinary system
2623	GATA1	HP:0000104	Renal agenesis
2623	GATA1	HP:0001419	X-linked recessive inheritance
2623	GATA1	HP:0002023	Anal atresia
2623	GATA1	HP:0005989	Redundant neck skin
2623	GATA1	HP:0040322	Purple urine
2623	GATA1	HP:0040320	Red-brown urine
2623	GATA1	HP:0100532	Scleritis
2623	GATA1	HP:0100512	Low levels of vitamin D
2623	GATA1	HP:0040276	Adenocarcinoma of the colon
2623	GATA1	HP:0010473	Porphyrinuria
2623	GATA1	HP:0010472	Abnormal circulating porphyrin concentration
2623	GATA1	HP:0003467	Atlantoaxial instability
2623	GATA1	HP:0011902	Abnormal hemoglobin
2623	GATA1	HP:0011904	Persistence of hemoglobin F
2623	GATA1	HP:0011877	Increased mean platelet volume
2623	GATA1	HP:0011869	Abnormal platelet function
2623	GATA1	HP:0003401	Paresthesia
2623	GATA1	HP:0008282	Unconjugated hyperbilirubinemia
2623	GATA1	HP:0003593	Infantile onset
2623	GATA1	HP:0003577	Congenital onset
2623	GATA1	HP:0002251	Aganglionic megacolon
2623	GATA1	HP:0002219	Facial hypertrichosis
2623	GATA1	HP:0003540	Impaired platelet aggregation
2623	GATA1	HP:0004808	Acute myeloid leukemia
2623	GATA1	HP:0001030	Fragile skin
2623	GATA1	HP:0001010	Hypopigmentation of the skin
2623	GATA1	HP:0001096	Keratoconjunctivitis
2623	GATA1	HP:0010808	Protruding tongue
2623	GATA1	HP:0001072	Thickened skin
2623	GATA1	HP:0200041	Skin erosion
2623	GATA1	HP:0001088	Brushfield spots
2623	GATA1	HP:0001087	Developmental glaucoma
2623	GATA1	HP:0020118	Radial artery aplasia
2623	GATA1	HP:0010773	Partial anomalous pulmonary venous return
2623	GATA1	HP:0100699	Scarring
2623	GATA1	HP:0009777	Absent thumb
2623	GATA1	HP:0009778	Short thumb
2623	GATA1	HP:0020181	Reduced haptoglobin level
2623	GATA1	HP:0005532	Macrocytic dyserythropoietic anemia
2623	GATA1	HP:0005528	Bone marrow hypocellularity
2623	GATA1	HP:0005518	Increased mean corpuscular volume
2623	GATA1	HP:0004279	Short palm
2623	GATA1	HP:0004220	Short middle phalanx of the 5th finger
2623	GATA1	HP:0005547	Myeloproliferative disorder
2623	GATA1	HP:0000639	Nystagmus
2623	GATA1	HP:0001972	Macrocytic anemia
2623	GATA1	HP:0000618	Blindness
2623	GATA1	HP:0001927	Acanthocytosis
2623	GATA1	HP:0001923	Reticulocytosis
2623	GATA1	HP:0001934	Persistent bleeding after trauma
2623	GATA1	HP:0001931	Hypochromic anemia
2623	GATA1	HP:0001903	Anemia
2623	GATA1	HP:0001905	Congenital thrombocytopenia
2623	GATA1	HP:0009025	Increased connective tissue
2623	GATA1	HP:0000656	Ectropion
2623	GATA1	HP:0004322	Short stature
2623	GATA1	HP:0031965	Increased RBC distribution width
2623	GATA1	HP:0004312	Abnormal reticulocyte morphology
2623	GATA1	HP:0003010	Prolonged bleeding time
2623	GATA1	HP:0011457	Loss of eyelashes
2623	GATA1	HP:0012758	Neurodevelopmental delay
2623	GATA1	HP:0004446	Stomatocytosis
2623	GATA1	HP:0004445	Elliptocytosis
2623	GATA1	HP:0004447	Poikilocytosis
2623	GATA1	HP:0030756	Erythrodontia
2623	GATA1	HP:0004415	Pulmonary artery stenosis
2623	GATA1	HP:0000912	Sprengel anomaly
2623	GATA1	HP:0003182	Shallow acetabular fossae
2623	GATA1	HP:0012804	Corneal ulceration
2623	GATA1	HP:0000821	Hypothyroidism
2623	GATA1	HP:0004552	Scarring alopecia of scalp
2623	GATA1	HP:0045040	Abnormal lactate dehydrogenase level
2623	GATA1	HP:0010316	Ebstein anomaly of the tricuspid valve
2623	GATA1	HP:0000980	Pallor
2623	GATA1	HP:0000978	Bruising susceptibility
2623	GATA1	HP:0000989	Pruritus
2623	GATA1	HP:0033009	Increased fecal coproporphyrin 1
2623	GATA1	HP:0000954	Single transverse palmar crease
2623	GATA1	HP:0000953	Hyperpigmentation of the skin
2623	GATA1	HP:0000969	Edema
2623	GATA1	HP:0000967	Petechiae
2623	GATA1	HP:0000939	Osteoporosis
2623	GATA1	HP:0000938	Osteopenia
2623	GATA1	HP:0008066	Abnormal blistering of the skin
2623	GATA1	HP:0008069	Neoplasm of the skin
2623	GATA1	HP:0040185	Macrothrombocytopenia
2623	GATA1	HP:0000286	Epicanthus
2623	GATA1	HP:0000294	Low anterior hairline
2623	GATA1	HP:0000272	Malar flattening
2623	GATA1	HP:0002817	Abnormality of the upper limb
2623	GATA1	HP:0030084	Clinodactyly
2623	GATA1	HP:0000234	Abnormality of the head
2623	GATA1	HP:0000252	Microcephaly
2623	GATA1	HP:0012217	Increased urinary porphobilinogen
2623	GATA1	HP:0000248	Brachycephaly
2623	GATA1	HP:0000218	High palate
2623	GATA1	HP:0001560	Abnormality of the amniotic fluid
2623	GATA1	HP:0002860	Squamous cell carcinoma
2623	GATA1	HP:0002866	Hypoplastic iliac wing
2623	GATA1	HP:0002863	Myelodysplasia
2623	GATA1	HP:0001518	Small for gestational age
2623	GATA1	HP:0001510	Growth delay
2623	GATA1	HP:0012368	Flat face
2623	GATA1	HP:0002904	Hyperbilirubinemia
2623	GATA1	HP:0025656	Prenatal double bubble sign
2623	GATA1	HP:0000369	Low-set ears
2623	GATA1	HP:0001674	Complete atrioventricular canal defect
2623	GATA1	HP:0001680	Coarctation of aorta
2623	GATA1	HP:0000347	Micrognathia
2623	GATA1	HP:0000316	Hypertelorism
2623	GATA1	HP:0001643	Patent ductus arteriosus
2623	GATA1	HP:0001655	Patent foramen ovale
2623	GATA1	HP:0001629	Ventricular septal defect
2623	GATA1	HP:0001627	Abnormal heart morphology
2623	GATA1	HP:0001636	Tetralogy of Fallot
2623	GATA1	HP:0001631	Atrial septal defect
2623	GATA1	HP:0006695	Atrioventricular canal defect
2623	GATA1	HP:0000405	Conductive hearing impairment
2623	GATA1	HP:0001719	Double outlet right ventricle
2623	GATA1	HP:0005280	Depressed nasal bridge
2623	GATA1	HP:0000486	Strabismus
2623	GATA1	HP:0001790	Nonimmune hydrops fetalis
2623	GATA1	HP:0000474	Thickened nuchal skin fold
2623	GATA1	HP:0000470	Short neck
2623	GATA1	HP:0000465	Webbed neck
2623	GATA1	HP:0030270	Elevated red cell adenosine deaminase level
2623	GATA1	HP:0012410	Pure red cell aplasia
2623	GATA1	HP:0001744	Splenomegaly
2623	GATA1	HP:0000431	Wide nasal bridge
2623	GATA1	HP:0025705	Abnormal fetal nasal bone visualization
2623	GATA1	HP:0000421	Epistaxis
2623	GATA1	HP:0005406	Recurrent bacterial skin infections
2623	GATA1	HP:0006733	Acute megakaryocytic leukemia
2623	GATA1	HP:0011273	Anisocytosis
2623	GATA1	HP:0006758	Malignant genitourinary tract tumor
2623	GATA1	HP:0000519	Developmental cataract
2623	GATA1	HP:0001852	Sandal gap
2623	GATA1	HP:0000508	Ptosis
2623	GATA1	HP:0000582	Upslanted palpebral fissure
2623	GATA1	HP:0001892	Abnormal bleeding
2623	GATA1	HP:0001894	Thrombocytosis
2623	GATA1	HP:0001896	Reticulocytopenia
2623	GATA1	HP:0001895	Normochromic anemia
2623	GATA1	HP:0001882	Leukopenia
2623	GATA1	HP:0001878	Hemolytic anemia
2623	GATA1	HP:0001873	Thrombocytopenia
2623	GATA1	HP:0001875	Neutropenia
2624	GATA2	HP:0001182	Tapered finger
2624	GATA2	HP:0002488	Acute leukemia
2624	GATA2	HP:0032242	Cervical intraepithelial neoplasia
2624	GATA2	HP:0100807	Long fingers
2624	GATA2	HP:0010976	B lymphocytopenia
2624	GATA2	HP:0000006	Autosomal dominant inheritance
2624	GATA2	HP:0012148	Multiple lineage myelodysplasia
2624	GATA2	HP:0001428	Somatic mutation
2624	GATA2	HP:0002754	Osteomyelitis
2624	GATA2	HP:0002716	Lymphadenopathy
2624	GATA2	HP:0002721	Immunodeficiency
2624	GATA2	HP:0002017	Nausea and vomiting
2624	GATA2	HP:0002076	Migraine
2624	GATA2	HP:0002167	Abnormality of speech or vocalization
2624	GATA2	HP:0002170	Intracranial hemorrhage
2624	GATA2	HP:0033222	Decreased CD4:CD8 ratio
2624	GATA2	HP:0002240	Hepatomegaly
2624	GATA2	HP:0002205	Recurrent respiratory infections
2624	GATA2	HP:0100724	Hypercoagulability
2624	GATA2	HP:0011991	Abnormal neutrophil count
2624	GATA2	HP:0004808	Acute myeloid leukemia
2624	GATA2	HP:0001004	Lymphedema
2624	GATA2	HP:0002321	Vertigo
2624	GATA2	HP:0100658	Cellulitis
2624	GATA2	HP:0200043	Verrucae
2624	GATA2	HP:0005528	Bone marrow hypocellularity
2624	GATA2	HP:0005547	Myeloproliferative disorder
2624	GATA2	HP:0001974	Leukocytosis
2624	GATA2	HP:0001945	Fever
2624	GATA2	HP:0000601	Hypotelorism
2624	GATA2	HP:0001909	Leukemia
2624	GATA2	HP:0001903	Anemia
2624	GATA2	HP:0001915	Aplastic anemia
2624	GATA2	HP:0003010	Prolonged bleeding time
2624	GATA2	HP:0004429	Recurrent viral infections
2624	GATA2	HP:0040218	Reduced natural killer cell count
2624	GATA2	HP:0045040	Abnormal lactate dehydrogenase level
2624	GATA2	HP:0000980	Pallor
2624	GATA2	HP:0000978	Bruising susceptibility
2624	GATA2	HP:0000286	Epicanthus
2624	GATA2	HP:0002878	Respiratory failure
2624	GATA2	HP:0002863	Myelodysplasia
2624	GATA2	HP:0031385	Megakaryocyte nucleus hypolobulation
2624	GATA2	HP:0002841	Recurrent fungal infections
2624	GATA2	HP:0012378	Fatigue
2624	GATA2	HP:0000389	Chronic otitis media
2624	GATA2	HP:0012324	Myeloid leukemia
2624	GATA2	HP:0012312	Monocytopenia
2624	GATA2	HP:0002960	Autoimmunity
2624	GATA2	HP:0030166	Night sweats
2624	GATA2	HP:0000407	Sensorineural hearing impairment
2624	GATA2	HP:0000465	Webbed neck
2624	GATA2	HP:0001744	Splenomegaly
2624	GATA2	HP:0025709	Intermediate young adult onset
2624	GATA2	HP:0011275	Recurrent mycobacterium avium complex infections
2624	GATA2	HP:0001824	Weight loss
2624	GATA2	HP:0000587	Abnormal optic nerve morphology
2624	GATA2	HP:0001888	Lymphopenia
2624	GATA2	HP:0000572	Visual loss
2624	GATA2	HP:0001871	Abnormality of blood and blood-forming tissues
2624	GATA2	HP:0001873	Thrombocytopenia
2624	GATA2	HP:0001876	Pancytopenia
2624	GATA2	HP:0001875	Neutropenia
2625	GATA3	HP:0001153	Septate vagina
2625	GATA3	HP:0003765	Psoriasiform dermatitis
2625	GATA3	HP:0003762	Uterus didelphys
2625	GATA3	HP:0001281	Tetany
2625	GATA3	HP:0008718	Unilateral renal dysplasia
2625	GATA3	HP:0000083	Renal insufficiency
2625	GATA3	HP:0000093	Proteinuria
2625	GATA3	HP:0000076	Vesicoureteral reflux
2625	GATA3	HP:0008850	Severe postnatal growth retardation
2625	GATA3	HP:0000006	Autosomal dominant inheritance
2625	GATA3	HP:0000175	Cleft palate
2625	GATA3	HP:0000151	Aplasia of the uterus
2625	GATA3	HP:0000148	Vaginal atresia
2625	GATA3	HP:0000121	Nephrocalcinosis
2625	GATA3	HP:0000122	Unilateral renal agenesis
2625	GATA3	HP:0000113	Polycystic kidney dysplasia
2625	GATA3	HP:0000126	Hydronephrosis
2625	GATA3	HP:0000100	Nephrotic syndrome
2625	GATA3	HP:0000110	Renal dysplasia
2625	GATA3	HP:0002049	Proximal renal tubular acidosis
2625	GATA3	HP:0002135	Basal ganglia calcification
2625	GATA3	HP:0002199	Hypocalcemic seizures
2625	GATA3	HP:0011840	Abnormality of T cell physiology
2625	GATA3	HP:0004722	Thickened glomerular basement membrane
2625	GATA3	HP:0003577	Congenital onset
2625	GATA3	HP:0008341	Distal renal tubular acidosis
2625	GATA3	HP:0012622	Chronic kidney disease
2625	GATA3	HP:0000666	Horizontal nystagmus
2625	GATA3	HP:0000790	Hematuria
2625	GATA3	HP:0000786	Primary amenorrhea
2625	GATA3	HP:0000860	Parathyroid hypoplasia
2625	GATA3	HP:0000819	Diabetes mellitus
2625	GATA3	HP:0000829	Hypoparathyroidism
2625	GATA3	HP:0003250	Aplasia of the vagina
2625	GATA3	HP:0002901	Hypocalcemia
2625	GATA3	HP:0001627	Abnormal heart morphology
2625	GATA3	HP:0000408	Progressive sensorineural hearing impairment
2625	GATA3	HP:0000407	Sensorineural hearing impairment
2625	GATA3	HP:0000510	Rod-cone dystrophy
2625	GATA3	HP:0000508	Ptosis
2625	GATA3	HP:0000538	Pseudopapilledema
2626	GATA4	HP:0001182	Tapered finger
2626	GATA4	HP:0001156	Brachydactyly
2626	GATA4	HP:0002465	Poor speech
2626	GATA4	HP:0008572	External ear malformation
2626	GATA4	HP:0009891	Underdeveloped supraorbital ridges
2626	GATA4	HP:0001297	Stroke
2626	GATA4	HP:0001279	Syncope
2626	GATA4	HP:0001256	Intellectual disability, mild
2626	GATA4	HP:0001250	Seizure
2626	GATA4	HP:0001263	Global developmental delay
2626	GATA4	HP:0008726	Hypoplasia of the vagina
2626	GATA4	HP:0008730	Female external genitalia in individual with 46,XY karyotype
2626	GATA4	HP:0008734	Decreased testicular size
2626	GATA4	HP:0008736	Hypoplasia of penis
2626	GATA4	HP:0008715	Testicular dysgenesis
2626	GATA4	HP:0008665	Clitoral hypertrophy
2626	GATA4	HP:0000062	Ambiguous genitalia
2626	GATA4	HP:0000058	Abnormal labia morphology
2626	GATA4	HP:0000045	Abnormality of the scrotum
2626	GATA4	HP:0000054	Micropenis
2626	GATA4	HP:0000051	Perineal hypospadias
2626	GATA4	HP:0000047	Hypospadias
2626	GATA4	HP:0000023	Inguinal hernia
2626	GATA4	HP:0000030	Testicular gonadoblastoma
2626	GATA4	HP:0000028	Cryptorchidism
2626	GATA4	HP:0000027	Azoospermia
2626	GATA4	HP:0002667	Nephroblastoma
2626	GATA4	HP:0000006	Autosomal dominant inheritance
2626	GATA4	HP:0000142	Abnormal vagina morphology
2626	GATA4	HP:0000150	Gonadoblastoma
2626	GATA4	HP:0000149	Ovarian gonadoblastoma
2626	GATA4	HP:0000133	Gonadal dysgenesis
2626	GATA4	HP:0000100	Nephrotic syndrome
2626	GATA4	HP:0002750	Delayed skeletal maturation
2626	GATA4	HP:0002718	Recurrent bacterial infections
2626	GATA4	HP:0005957	Breathing dysregulation
2626	GATA4	HP:0002094	Dyspnea
2626	GATA4	HP:0002092	Pulmonary arterial hypertension
2626	GATA4	HP:0002090	Pneumonia
2626	GATA4	HP:0010445	Primum atrial septal defect
2626	GATA4	HP:0011710	Bundle branch block
2626	GATA4	HP:0011705	First degree atrioventricular block
2626	GATA4	HP:0008193	Primary gonadal insufficiency
2626	GATA4	HP:0008187	Absence of secondary sex characteristics
2626	GATA4	HP:0010464	Streak ovary
2626	GATA4	HP:0004755	Supraventricular tachycardia
2626	GATA4	HP:0004749	Atrial flutter
2626	GATA4	HP:0009623	Proximal placement of thumb
2626	GATA4	HP:0008232	Elevated circulating follicle stimulating hormone level
2626	GATA4	HP:0008214	Decreased serum estradiol
2626	GATA4	HP:0003577	Congenital onset
2626	GATA4	HP:0002215	Sparse axillary hair
2626	GATA4	HP:0003546	Exercise intolerance
2626	GATA4	HP:0002225	Sparse pubic hair
2626	GATA4	HP:0100779	Urogenital sinus anomaly
2626	GATA4	HP:0007018	Attention deficit hyperactivity disorder
2626	GATA4	HP:0011969	Elevated circulating luteinizing hormone level
2626	GATA4	HP:0002326	Transient ischemic attack
2626	GATA4	HP:0100625	Enlarged thorax
2626	GATA4	HP:0010741	Pedal edema
2626	GATA4	HP:0004209	Clinodactyly of the 5th finger
2626	GATA4	HP:0010059	Broad hallux phalanx
2626	GATA4	HP:4000094	Corpus cavernosum hypoplasia
2626	GATA4	HP:0001962	Palpitations
2626	GATA4	HP:0011304	Broad thumb
2626	GATA4	HP:0004322	Short stature
2626	GATA4	HP:0030680	Abnormality of cardiovascular system morphology
2626	GATA4	HP:0004383	Hypoplastic left heart
2626	GATA4	HP:0000771	Gynecomastia
2626	GATA4	HP:0000708	Atypical behavior
2626	GATA4	HP:0012764	Orthopnea
2626	GATA4	HP:0000776	Congenital diaphragmatic hernia
2626	GATA4	HP:0000786	Primary amenorrhea
2626	GATA4	HP:0004422	Biparietal narrowing
2626	GATA4	HP:0004415	Pulmonary artery stenosis
2626	GATA4	HP:0003196	Short nose
2626	GATA4	HP:0004467	Preauricular pit
2626	GATA4	HP:0030718	Right atrial enlargement
2626	GATA4	HP:0012870	Vanishing testis
2626	GATA4	HP:0000868	Decreased fertility in females
2626	GATA4	HP:0000837	Increased circulating gonadotropin level
2626	GATA4	HP:0000846	Adrenal insufficiency
2626	GATA4	HP:0000815	Hypergonadotropic hypogonadism
2626	GATA4	HP:0000812	Abnormal internal genitalia
2626	GATA4	HP:0000823	Delayed puberty
2626	GATA4	HP:0003251	Male infertility
2626	GATA4	HP:0000961	Cyanosis
2626	GATA4	HP:0000939	Osteoporosis
2626	GATA4	HP:0040171	Decreased serum testosterone concentration
2626	GATA4	HP:0011675	Arrhythmia
2626	GATA4	HP:0000286	Epicanthus
2626	GATA4	HP:0000293	Full cheeks
2626	GATA4	HP:0012250	ST segment depression
2626	GATA4	HP:0012244	Abnormal sex determination
2626	GATA4	HP:0000268	Dolichocephaly
2626	GATA4	HP:0005133	Right ventricular dilatation
2626	GATA4	HP:0005115	Supraventricular arrhythmia
2626	GATA4	HP:0005110	Atrial fibrillation
2626	GATA4	HP:0005105	Abnormal nasal morphology
2626	GATA4	HP:0000252	Microcephaly
2626	GATA4	HP:0000218	High palate
2626	GATA4	HP:0002875	Exertional dyspnea
2626	GATA4	HP:0000233	Thin vermilion border
2626	GATA4	HP:0001511	Intrauterine growth retardation
2626	GATA4	HP:0001510	Growth delay
2626	GATA4	HP:0001513	Obesity
2626	GATA4	HP:0012378	Fatigue
2626	GATA4	HP:0012382	Left-to-right shunt
2626	GATA4	HP:0006536	Airway obstruction
2626	GATA4	HP:0002926	Abnormality of thyroid physiology
2626	GATA4	HP:0005180	Tricuspid regurgitation
2626	GATA4	HP:0005162	Abnormal left ventricular function
2626	GATA4	HP:0000369	Low-set ears
2626	GATA4	HP:0001671	Abnormal cardiac septum morphology
2626	GATA4	HP:0001669	Transposition of the great arteries
2626	GATA4	HP:0000337	Broad forehead
2626	GATA4	HP:0001679	Abnormal aortic morphology
2626	GATA4	HP:0000348	High forehead
2626	GATA4	HP:0000347	Micrognathia
2626	GATA4	HP:0001651	Dextrocardia
2626	GATA4	HP:0001643	Patent ductus arteriosus
2626	GATA4	HP:0001642	Pulmonic stenosis
2626	GATA4	HP:0001659	Aortic regurgitation
2626	GATA4	HP:0001653	Mitral regurgitation
2626	GATA4	HP:0001629	Ventricular septal defect
2626	GATA4	HP:0001639	Hypertrophic cardiomyopathy
2626	GATA4	HP:0001636	Tetralogy of Fallot
2626	GATA4	HP:0001635	Congestive heart failure
2626	GATA4	HP:0001631	Atrial septal defect
2626	GATA4	HP:0001633	Abnormal mitral valve morphology
2626	GATA4	HP:0006610	Wide intermamillary distance
2626	GATA4	HP:0006695	Atrioventricular canal defect
2626	GATA4	HP:0005317	Increased pulmonary vascular resistance
2626	GATA4	HP:0001708	Right ventricular failure
2626	GATA4	HP:0000486	Strabismus
2626	GATA4	HP:0000494	Downslanted palpebral fissures
2626	GATA4	HP:0000490	Deeply set eye
2626	GATA4	HP:0000470	Short neck
2626	GATA4	HP:0030260	Microphallus
2626	GATA4	HP:0001763	Pes planus
2626	GATA4	HP:0000431	Wide nasal bridge
2626	GATA4	HP:0000426	Prominent nasal bridge
2626	GATA4	HP:0000520	Proptosis
2626	GATA4	HP:0001824	Weight loss
2626	GATA4	HP:0031664	Systolic heart murmur
2626	GATA4	HP:0000582	Upslanted palpebral fissure
2627	GATA6	HP:0001156	Brachydactyly
2627	GATA6	HP:0001195	Single umbilical artery
2627	GATA6	HP:0009891	Underdeveloped supraorbital ridges
2627	GATA6	HP:0001297	Stroke
2627	GATA6	HP:0100801	Pancreatic aplasia
2627	GATA6	HP:0001279	Syncope
2627	GATA6	HP:0001250	Seizure
2627	GATA6	HP:0001249	Intellectual disability
2627	GATA6	HP:0002594	Pancreatic hypoplasia
2627	GATA6	HP:0001263	Global developmental delay
2627	GATA6	HP:0002566	Intestinal malrotation
2627	GATA6	HP:0000073	Ureteral duplication
2627	GATA6	HP:0000023	Inguinal hernia
2627	GATA6	HP:0000028	Cryptorchidism
2627	GATA6	HP:0000007	Autosomal recessive inheritance
2627	GATA6	HP:0000006	Autosomal dominant inheritance
2627	GATA6	HP:0001319	Neonatal hypotonia
2627	GATA6	HP:0002718	Recurrent bacterial infections
2627	GATA6	HP:0005957	Breathing dysregulation
2627	GATA6	HP:0002089	Pulmonary hypoplasia
2627	GATA6	HP:0002098	Respiratory distress
2627	GATA6	HP:0002094	Dyspnea
2627	GATA6	HP:0002092	Pulmonary arterial hypertension
2627	GATA6	HP:0002090	Pneumonia
2627	GATA6	HP:0011710	Bundle branch block
2627	GATA6	HP:0011705	First degree atrioventricular block
2627	GATA6	HP:0005912	Biliary atresia
2627	GATA6	HP:0004762	Hypoplasia of right ventricle
2627	GATA6	HP:0004755	Supraventricular tachycardia
2627	GATA6	HP:0004749	Atrial flutter
2627	GATA6	HP:0003577	Congenital onset
2627	GATA6	HP:0002254	Intermittent diarrhea
2627	GATA6	HP:0003546	Exercise intolerance
2627	GATA6	HP:0100790	Hernia
2627	GATA6	HP:0011968	Feeding difficulties
2627	GATA6	HP:0010626	Anterior pituitary agenesis
2627	GATA6	HP:0003645	Prolonged partial thromboplastin time
2627	GATA6	HP:0002326	Transient ischemic attack
2627	GATA6	HP:0010741	Pedal edema
2627	GATA6	HP:0004209	Clinodactyly of the 5th finger
2627	GATA6	HP:0001962	Palpitations
2627	GATA6	HP:0001939	Abnormality of metabolism/homeostasis
2627	GATA6	HP:0010055	Broad hallux
2627	GATA6	HP:0030680	Abnormality of cardiovascular system morphology
2627	GATA6	HP:0003076	Glycosuria
2627	GATA6	HP:0003074	Hyperglycemia
2627	GATA6	HP:0004388	Microcolon
2627	GATA6	HP:0004383	Hypoplastic left heart
2627	GATA6	HP:0011467	Absent gallbladder
2627	GATA6	HP:0011466	Aplasia/Hypoplasia of the gallbladder
2627	GATA6	HP:0012764	Orthopnea
2627	GATA6	HP:0000776	Congenital diaphragmatic hernia
2627	GATA6	HP:0009112	Aplasia of the left hemidiaphragm
2627	GATA6	HP:0004415	Pulmonary artery stenosis
2627	GATA6	HP:0004467	Preauricular pit
2627	GATA6	HP:0030718	Right atrial enlargement
2627	GATA6	HP:0000891	Cervical ribs
2627	GATA6	HP:0000884	Prominent sternum
2627	GATA6	HP:0000857	Neonatal insulin-dependent diabetes mellitus
2627	GATA6	HP:0000851	Congenital hypothyroidism
2627	GATA6	HP:0000819	Diabetes mellitus
2627	GATA6	HP:0011581	Double outlet left ventricle
2627	GATA6	HP:0011573	Hypoplastic tricuspid valve
2627	GATA6	HP:0010315	Aplasia/Hypoplasia of the diaphragm
2627	GATA6	HP:0100259	Postaxial polydactyly
2627	GATA6	HP:0011629	Total absence of the pericardium
2627	GATA6	HP:0011628	Congenital defect of the pericardium
2627	GATA6	HP:0011623	Muscular ventricular septal defect
2627	GATA6	HP:0011611	Interrupted aortic arch
2627	GATA6	HP:0000961	Cyanosis
2627	GATA6	HP:0040196	Mild microcephaly
2627	GATA6	HP:0011675	Arrhythmia
2627	GATA6	HP:0011682	Perimembranous ventricular septal defect
2627	GATA6	HP:0012250	ST segment depression
2627	GATA6	HP:0000268	Dolichocephaly
2627	GATA6	HP:0005133	Right ventricular dilatation
2627	GATA6	HP:0005115	Supraventricular arrhythmia
2627	GATA6	HP:0005110	Atrial fibrillation
2627	GATA6	HP:0005105	Abnormal nasal morphology
2627	GATA6	HP:0000252	Microcephaly
2627	GATA6	HP:0002875	Exertional dyspnea
2627	GATA6	HP:0001562	Oligohydramnios
2627	GATA6	HP:0000233	Thin vermilion border
2627	GATA6	HP:0001537	Umbilical hernia
2627	GATA6	HP:0000202	Orofacial cleft
2627	GATA6	HP:0031369	Colon perforation
2627	GATA6	HP:0001508	Failure to thrive
2627	GATA6	HP:0001518	Small for gestational age
2627	GATA6	HP:0001511	Intrauterine growth retardation
2627	GATA6	HP:0012378	Fatigue
2627	GATA6	HP:0012382	Left-to-right shunt
2627	GATA6	HP:0006536	Airway obstruction
2627	GATA6	HP:0005180	Tricuspid regurgitation
2627	GATA6	HP:0005162	Abnormal left ventricular function
2627	GATA6	HP:0001674	Complete atrioventricular canal defect
2627	GATA6	HP:0001669	Transposition of the great arteries
2627	GATA6	HP:0000337	Broad forehead
2627	GATA6	HP:0001684	Secundum atrial septal defect
2627	GATA6	HP:0001680	Coarctation of aorta
2627	GATA6	HP:0001647	Bicuspid aortic valve
2627	GATA6	HP:0000316	Hypertelorism
2627	GATA6	HP:0001643	Patent ductus arteriosus
2627	GATA6	HP:0001642	Pulmonic stenosis
2627	GATA6	HP:0001660	Truncus arteriosus
2627	GATA6	HP:0001653	Mitral regurgitation
2627	GATA6	HP:0001655	Patent foramen ovale
2627	GATA6	HP:0001629	Ventricular septal defect
2627	GATA6	HP:0001636	Tetralogy of Fallot
2627	GATA6	HP:0001635	Congestive heart failure
2627	GATA6	HP:0001631	Atrial septal defect
2627	GATA6	HP:0001633	Abnormal mitral valve morphology
2627	GATA6	HP:0006695	Atrioventricular canal defect
2627	GATA6	HP:0005317	Increased pulmonary vascular resistance
2627	GATA6	HP:0001738	Exocrine pancreatic insufficiency
2627	GATA6	HP:0001708	Right ventricular failure
2627	GATA6	HP:0001719	Double outlet right ventricle
2627	GATA6	HP:0012418	Hypoxemia
2627	GATA6	HP:0000520	Proptosis
2627	GATA6	HP:0031664	Systolic heart murmur
2628	GATM	HP:0003774	Stage 5 chronic kidney disease
2628	GATM	HP:0001249	Intellectual disability
2628	GATM	HP:0001263	Global developmental delay
2628	GATM	HP:0000083	Renal insufficiency
2628	GATM	HP:0002659	Increased susceptibility to fractures
2628	GATM	HP:0001324	Muscle weakness
2628	GATM	HP:0000007	Autosomal recessive inheritance
2628	GATM	HP:0000006	Autosomal dominant inheritance
2628	GATM	HP:0002653	Bone pain
2628	GATM	HP:0000117	Renal phosphate wasting
2628	GATM	HP:0000124	Renal tubular dysfunction
2628	GATM	HP:0002748	Rickets
2628	GATM	HP:0002749	Osteomalacia
2628	GATM	HP:0003355	Aminoaciduria
2628	GATM	HP:0003391	Gowers sign
2628	GATM	HP:0002049	Proximal renal tubular acidosis
2628	GATM	HP:0002150	Hypercalciuria
2628	GATM	HP:0002148	Hypophosphatemia
2628	GATM	HP:0003593	Infantile onset
2628	GATM	HP:0003537	Hypouricemia
2628	GATM	HP:0002206	Pulmonary fibrosis
2628	GATM	HP:0003648	Lacticaciduria
2628	GATM	HP:0003646	Bicarbonaturia
2628	GATM	HP:0025051	Reduced brain creatine level by MRS
2628	GATM	HP:0004918	Hyperchloremic metabolic acidosis
2628	GATM	HP:0004912	Hypophosphatemic rickets
2628	GATM	HP:0004910	Bicarbonate-wasting renal tubular acidosis
2628	GATM	HP:0012622	Chronic kidney disease
2628	GATM	HP:0012606	Renal sodium wasting
2628	GATM	HP:0001944	Dehydration
2628	GATM	HP:0001943	Hypoglycemia
2628	GATM	HP:0001942	Metabolic acidosis
2628	GATM	HP:0001992	Organic aciduria
2628	GATM	HP:0004322	Short stature
2628	GATM	HP:0003076	Glycosuria
2628	GATM	HP:0003081	Increased urinary potassium
2628	GATM	HP:0000750	Delayed speech and language development
2628	GATM	HP:0000717	Autism
2628	GATM	HP:0011463	Childhood onset
2628	GATM	HP:0003109	Hyperphosphaturia
2628	GATM	HP:0003126	Low-molecular-weight proteinuria
2628	GATM	HP:0003155	Elevated circulating alkaline phosphatase concentration
2628	GATM	HP:0003149	Hyperuricosuria
2628	GATM	HP:0003234	Decreased plasma carnitine
2628	GATM	HP:0034359	Impaired renal tubular reabsorption of phosphate
2628	GATM	HP:0001508	Failure to thrive
2628	GATM	HP:0001510	Growth delay
2628	GATM	HP:0002909	Generalized aminoaciduria
2628	GATM	HP:0002900	Hypokalemia
2628	GATM	HP:0001824	Weight loss
2629	GBA1	HP:0002483	Bulbar signs
2629	GBA1	HP:0007311	Short stepped shuffling gait
2629	GBA1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
2629	GBA1	HP:0025160	Abnormal temper tantrums
2629	GBA1	HP:0010885	Avascular necrosis
2629	GBA1	HP:0008551	Microtia
2629	GBA1	HP:0003745	Sporadic
2629	GBA1	HP:0001298	Encephalopathy
2629	GBA1	HP:0001276	Hypertonia
2629	GBA1	HP:0001270	Motor delay
2629	GBA1	HP:0001268	Mental deterioration
2629	GBA1	HP:0001288	Gait disturbance
2629	GBA1	HP:0001250	Seizure
2629	GBA1	HP:0001252	Hypotonia
2629	GBA1	HP:0001251	Ataxia
2629	GBA1	HP:0001249	Intellectual disability
2629	GBA1	HP:0001265	Hyporeflexia
2629	GBA1	HP:0001260	Dysarthria
2629	GBA1	HP:0001263	Global developmental delay
2629	GBA1	HP:0002592	Gastric ulcer
2629	GBA1	HP:0001258	Spastic paraplegia
2629	GBA1	HP:0001257	Spasticity
2629	GBA1	HP:0007401	Macular atrophy
2629	GBA1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
2629	GBA1	HP:0002529	Neuronal loss in central nervous system
2629	GBA1	HP:0003826	Stillbirth
2629	GBA1	HP:0003811	Neonatal death
2629	GBA1	HP:0000093	Proteinuria
2629	GBA1	HP:0001399	Hepatic failure
2629	GBA1	HP:0001395	Hepatic fibrosis
2629	GBA1	HP:0001394	Cirrhosis
2629	GBA1	HP:0001371	Flexion contracture
2629	GBA1	HP:0001347	Hyperreflexia
2629	GBA1	HP:0000027	Azoospermia
2629	GBA1	HP:0007549	Desquamation of skin soon after birth
2629	GBA1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
2629	GBA1	HP:0001332	Dystonia
2629	GBA1	HP:0002659	Increased susceptibility to fractures
2629	GBA1	HP:0000012	Urinary urgency
2629	GBA1	HP:0000007	Autosomal recessive inheritance
2629	GBA1	HP:0001337	Tremor
2629	GBA1	HP:0000006	Autosomal dominant inheritance
2629	GBA1	HP:0001336	Myoclonus
2629	GBA1	HP:0002653	Bone pain
2629	GBA1	HP:0002650	Scoliosis
2629	GBA1	HP:0002619	Varicose veins
2629	GBA1	HP:0001300	Parkinsonism
2629	GBA1	HP:0000194	Open mouth
2629	GBA1	HP:0000160	Narrow mouth
2629	GBA1	HP:0002797	Osteolysis
2629	GBA1	HP:0002793	Abnormal pattern of respiration
2629	GBA1	HP:0025404	Abnormal visual fixation
2629	GBA1	HP:0002758	Osteoarthritis
2629	GBA1	HP:0002756	Pathologic fracture
2629	GBA1	HP:0001433	Hepatosplenomegaly
2629	GBA1	HP:0002750	Delayed skeletal maturation
2629	GBA1	HP:0002020	Gastroesophageal reflux
2629	GBA1	HP:0002019	Constipation
2629	GBA1	HP:0002027	Abdominal pain
2629	GBA1	HP:0002015	Dysphagia
2629	GBA1	HP:0002089	Pulmonary hypoplasia
2629	GBA1	HP:0002098	Respiratory distress
2629	GBA1	HP:0002094	Dyspnea
2629	GBA1	HP:0002092	Pulmonary arterial hypertension
2629	GBA1	HP:0002067	Bradykinesia
2629	GBA1	HP:0003394	Muscle spasm
2629	GBA1	HP:0002063	Rigidity
2629	GBA1	HP:0002079	Hypoplasia of the corpus callosum
2629	GBA1	HP:0002070	Limb ataxia
2629	GBA1	HP:0002040	Esophageal varix
2629	GBA1	HP:0002039	Anorexia
2629	GBA1	HP:0002059	Cerebral atrophy
2629	GBA1	HP:0003470	Paralysis
2629	GBA1	HP:0002123	Generalized myoclonic seizure
2629	GBA1	HP:0002120	Cerebral cortical atrophy
2629	GBA1	HP:0002119	Ventriculomegaly
2629	GBA1	HP:0002136	Broad-based gait
2629	GBA1	HP:0002100	Recurrent aspiration pneumonia
2629	GBA1	HP:0002113	Pulmonary infiltrates
2629	GBA1	HP:0002104	Apnea
2629	GBA1	HP:0002179	Opisthotonus
2629	GBA1	HP:0002171	Gliosis
2629	GBA1	HP:0002172	Postural instability
2629	GBA1	HP:0002170	Intracranial hemorrhage
2629	GBA1	HP:0010543	Opsoclonus
2629	GBA1	HP:0003593	Infantile onset
2629	GBA1	HP:0002240	Hepatomegaly
2629	GBA1	HP:0003587	Insidious onset
2629	GBA1	HP:0003584	Late onset
2629	GBA1	HP:0003581	Adult onset
2629	GBA1	HP:0100710	Impulsivity
2629	GBA1	HP:0002205	Recurrent respiratory infections
2629	GBA1	HP:0002206	Pulmonary fibrosis
2629	GBA1	HP:0010702	Increased circulating antibody level
2629	GBA1	HP:0100753	Schizophrenia
2629	GBA1	HP:0011968	Feeding difficulties
2629	GBA1	HP:0011960	Substantia nigra gliosis
2629	GBA1	HP:0011950	Bronchiolitis
2629	GBA1	HP:0001058	Poor wound healing
2629	GBA1	HP:0002367	Visual hallucinations
2629	GBA1	HP:0002362	Shuffling gait
2629	GBA1	HP:0002360	Sleep disturbance
2629	GBA1	HP:0002359	Frequent falls
2629	GBA1	HP:0002375	Hypokinesia
2629	GBA1	HP:0002344	Progressive neurologic deterioration
2629	GBA1	HP:0003676	Progressive
2629	GBA1	HP:0002322	Resting tremor
2629	GBA1	HP:0002315	Headache
2629	GBA1	HP:0002313	Spastic paraparesis
2629	GBA1	HP:0004975	Erlenmeyer flask deformity of the femurs
2629	GBA1	HP:0003656	Decreased beta-glucocerebrosidase level
2629	GBA1	HP:0100660	Dyskinesia
2629	GBA1	HP:0010803	Everted upper lip vermilion
2629	GBA1	HP:0200042	Skin ulcer
2629	GBA1	HP:0001085	Papilledema
2629	GBA1	HP:0001081	Cholelithiasis
2629	GBA1	HP:0007159	Fluctuations in consciousness
2629	GBA1	HP:0010741	Pedal edema
2629	GBA1	HP:0004963	Calcification of the aorta
2629	GBA1	HP:0002304	Akinesia
2629	GBA1	HP:0004934	Vascular calcification
2629	GBA1	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
2629	GBA1	HP:0001971	Hypersplenism
2629	GBA1	HP:0000651	Diplopia
2629	GBA1	HP:0000623	Supranuclear ophthalmoplegia
2629	GBA1	HP:0000605	Supranuclear gaze palsy
2629	GBA1	HP:0000602	Ophthalmoplegia
2629	GBA1	HP:0001903	Anemia
2629	GBA1	HP:0000657	Oculomotor apraxia
2629	GBA1	HP:0000656	Ectropion
2629	GBA1	HP:0001989	Fetal akinesia sequence
2629	GBA1	HP:0000666	Horizontal nystagmus
2629	GBA1	HP:0004325	Decreased body weight
2629	GBA1	HP:0004322	Short stature
2629	GBA1	HP:0004326	Cachexia
2629	GBA1	HP:0005619	Thoracolumbar kyphosis
2629	GBA1	HP:0004382	Mitral valve calcification
2629	GBA1	HP:0004380	Aortic valve calcification
2629	GBA1	HP:0031908	Micrographia
2629	GBA1	HP:0000751	Personality changes
2629	GBA1	HP:0012735	Cough
2629	GBA1	HP:0000767	Pectus excavatum
2629	GBA1	HP:0000738	Hallucinations
2629	GBA1	HP:0000744	Low frustration tolerance
2629	GBA1	HP:0000746	Delusions
2629	GBA1	HP:0000741	Apathy
2629	GBA1	HP:0000716	Depression
2629	GBA1	HP:0000713	Agitation
2629	GBA1	HP:0000726	Dementia
2629	GBA1	HP:0011463	Childhood onset
2629	GBA1	HP:0011461	Fetal onset
2629	GBA1	HP:0000790	Hematuria
2629	GBA1	HP:0004409	Hyposmia
2629	GBA1	HP:0004406	Spontaneous, recurrent epistaxis
2629	GBA1	HP:0003196	Short nose
2629	GBA1	HP:0100315	Lewy bodies
2629	GBA1	HP:0000822	Hypertension
2629	GBA1	HP:0000823	Delayed puberty
2629	GBA1	HP:0011590	Double aortic arch
2629	GBA1	HP:0010307	Stridor
2629	GBA1	HP:0000979	Purpura
2629	GBA1	HP:0000978	Bruising susceptibility
2629	GBA1	HP:0000974	Hyperextensible skin
2629	GBA1	HP:0000953	Hyperpigmentation of the skin
2629	GBA1	HP:0000967	Petechiae
2629	GBA1	HP:0000962	Hyperkeratosis
2629	GBA1	HP:0000938	Osteopenia
2629	GBA1	HP:0008064	Ichthyosis
2629	GBA1	HP:0000278	Retrognathia
2629	GBA1	HP:0000298	Mask-like facies
2629	GBA1	HP:0007759	Opacification of the corneal stroma
2629	GBA1	HP:0002808	Kyphosis
2629	GBA1	HP:0002804	Arthrogryposis multiplex congenita
2629	GBA1	HP:0000238	Hydrocephalus
2629	GBA1	HP:0000252	Microcephaly
2629	GBA1	HP:0000248	Brachycephaly
2629	GBA1	HP:0000218	High palate
2629	GBA1	HP:0001561	Polyhydramnios
2629	GBA1	HP:0000232	Everted lower lip vermilion
2629	GBA1	HP:0001558	Decreased fetal movement
2629	GBA1	HP:0000225	Gingival bleeding
2629	GBA1	HP:0001522	Death in infancy
2629	GBA1	HP:0000211	Trismus
2629	GBA1	HP:0001541	Ascites
2629	GBA1	HP:0001538	Protuberant abdomen
2629	GBA1	HP:0031364	Ecchymosis
2629	GBA1	HP:0001508	Failure to thrive
2629	GBA1	HP:0001511	Intrauterine growth retardation
2629	GBA1	HP:0001510	Growth delay
2629	GBA1	HP:0007817	Horizontal supranuclear gaze palsy
2629	GBA1	HP:0012389	Appendicular hypotonia
2629	GBA1	HP:0012378	Fatigue
2629	GBA1	HP:0005257	Thoracic hypoplasia
2629	GBA1	HP:0005230	Biliary tract obstruction
2629	GBA1	HP:0007885	Slowed horizontal saccades
2629	GBA1	HP:0006530	Abnormal pulmonary interstitial morphology
2629	GBA1	HP:0001695	Cardiac arrest
2629	GBA1	HP:0031435	Monotonic speech
2629	GBA1	HP:0001698	Pericardial effusion
2629	GBA1	HP:0000369	Low-set ears
2629	GBA1	HP:0000368	Low-set, posteriorly rotated ears
2629	GBA1	HP:0012332	Abnormal autonomic nervous system physiology
2629	GBA1	HP:0011001	Increased bone mineral density
2629	GBA1	HP:0000338	Hypomimic face
2629	GBA1	HP:0000347	Micrognathia
2629	GBA1	HP:0001650	Aortic valve stenosis
2629	GBA1	HP:0000316	Hypertelorism
2629	GBA1	HP:0001654	Abnormal heart valve morphology
2629	GBA1	HP:0001653	Mitral regurgitation
2629	GBA1	HP:0000325	Triangular face
2629	GBA1	HP:0002953	Vertebral compression fracture
2629	GBA1	HP:0001621	Weak voice
2629	GBA1	HP:0001622	Premature birth
2629	GBA1	HP:0001640	Cardiomegaly
2629	GBA1	HP:0001637	Abnormal myocardium morphology
2629	GBA1	HP:0007957	Corneal opacity
2629	GBA1	HP:0006689	Bacterial endocarditis
2629	GBA1	HP:0005340	Spastic/hyperactive bladder
2629	GBA1	HP:0007975	Hypometric horizontal saccades
2629	GBA1	HP:0000407	Sensorineural hearing impairment
2629	GBA1	HP:0001718	Mitral stenosis
2629	GBA1	HP:0005280	Depressed nasal bridge
2629	GBA1	HP:0000486	Strabismus
2629	GBA1	HP:0000478	Abnormality of the eye
2629	GBA1	HP:0000496	Abnormality of eye movement
2629	GBA1	HP:0000463	Anteverted nares
2629	GBA1	HP:0001790	Nonimmune hydrops fetalis
2629	GBA1	HP:0012450	Chronic constipation
2629	GBA1	HP:0001789	Hydrops fetalis
2629	GBA1	HP:0001744	Splenomegaly
2629	GBA1	HP:0001743	Abnormality of the spleen
2629	GBA1	HP:0001761	Pes cavus
2629	GBA1	HP:0000421	Epistaxis
2629	GBA1	HP:0006775	Multiple myeloma
2629	GBA1	HP:0001822	Hallux valgus
2629	GBA1	HP:0001824	Weight loss
2629	GBA1	HP:0000508	Ptosis
2629	GBA1	HP:0000570	Abnormal saccadic eye movements
2629	GBA1	HP:0000565	Esotropia
2629	GBA1	HP:0001882	Leukopenia
2629	GBA1	HP:0001873	Thrombocytopenia
2629	GBA1	HP:0001876	Pancytopenia
2632	GBE1	HP:0007256	Abnormal pyramidal sign
2632	GBE1	HP:0001290	Generalized hypotonia
2632	GBE1	HP:0001278	Orthostatic hypotension
2632	GBE1	HP:0001269	Hemiparesis
2632	GBE1	HP:0001288	Gait disturbance
2632	GBE1	HP:0001252	Hypotonia
2632	GBE1	HP:0001251	Ataxia
2632	GBE1	HP:0001249	Intellectual disability
2632	GBE1	HP:0001258	Spastic paraplegia
2632	GBE1	HP:0001257	Spasticity
2632	GBE1	HP:0002500	Abnormal cerebral white matter morphology
2632	GBE1	HP:0001399	Hepatic failure
2632	GBE1	HP:0001394	Cirrhosis
2632	GBE1	HP:0001376	Limitation of joint mobility
2632	GBE1	HP:0000020	Urinary incontinence
2632	GBE1	HP:0001324	Muscle weakness
2632	GBE1	HP:0000011	Neurogenic bladder
2632	GBE1	HP:0000007	Autosomal recessive inheritance
2632	GBE1	HP:0001315	Reduced tendon reflexes
2632	GBE1	HP:0001433	Hepatosplenomegaly
2632	GBE1	HP:0001409	Portal hypertension
2632	GBE1	HP:0100543	Cognitive impairment
2632	GBE1	HP:0003394	Muscle spasm
2632	GBE1	HP:0002071	Abnormality of extrapyramidal motor function
2632	GBE1	HP:0002040	Esophageal varix
2632	GBE1	HP:0003477	Peripheral axonal neuropathy
2632	GBE1	HP:0003457	EMG abnormality
2632	GBE1	HP:0002127	Abnormal upper motor neuron morphology
2632	GBE1	HP:0003438	Absent Achilles reflex
2632	GBE1	HP:0003401	Paresthesia
2632	GBE1	HP:0003596	Middle age onset
2632	GBE1	HP:0002273	Tetraparesis
2632	GBE1	HP:0003677	Slowly progressive
2632	GBE1	HP:0009830	Peripheral neuropathy
2632	GBE1	HP:0200042	Skin ulcer
2632	GBE1	HP:0005576	Tubulointerstitial fibrosis
2632	GBE1	HP:0000726	Dementia
2632	GBE1	HP:0000708	Atypical behavior
2632	GBE1	HP:0040081	Abnormal circulating creatine kinase concentration
2632	GBE1	HP:0003202	Skeletal muscle atrophy
2632	GBE1	HP:0000969	Edema
2632	GBE1	HP:0002804	Arthrogryposis multiplex congenita
2632	GBE1	HP:0001561	Polyhydramnios
2632	GBE1	HP:0001558	Decreased fetal movement
2632	GBE1	HP:0001541	Ascites
2632	GBE1	HP:0001508	Failure to thrive
2632	GBE1	HP:0002839	Urinary bladder sphincter dysfunction
2632	GBE1	HP:0002936	Distal sensory impairment
2632	GBE1	HP:0002922	Increased CSF protein concentration
2632	GBE1	HP:0001638	Cardiomyopathy
2632	GBE1	HP:0001789	Hydrops fetalis
2639	GCDH	HP:0100954	Open operculum
2639	GCDH	HP:0002451	Limb dystonia
2639	GCDH	HP:0410175	Hyperketonemia
2639	GCDH	HP:0001298	Encephalopathy
2639	GCDH	HP:0001290	Generalized hypotonia
2639	GCDH	HP:0001250	Seizure
2639	GCDH	HP:0001252	Hypotonia
2639	GCDH	HP:0001251	Ataxia
2639	GCDH	HP:0001264	Spastic diplegia
2639	GCDH	HP:0001266	Choreoathetosis
2639	GCDH	HP:0001260	Dysarthria
2639	GCDH	HP:0001263	Global developmental delay
2639	GCDH	HP:0002500	Abnormal cerebral white matter morphology
2639	GCDH	HP:0001373	Joint dislocation
2639	GCDH	HP:0001332	Dystonia
2639	GCDH	HP:0000007	Autosomal recessive inheritance
2639	GCDH	HP:0001334	Communicating hydrocephalus
2639	GCDH	HP:0001337	Tremor
2639	GCDH	HP:0002015	Dysphagia
2639	GCDH	HP:0002086	Abnormality of the respiratory system
2639	GCDH	HP:0100543	Cognitive impairment
2639	GCDH	HP:0002063	Rigidity
2639	GCDH	HP:0002072	Chorea
2639	GCDH	HP:0002119	Ventriculomegaly
2639	GCDH	HP:0002134	Abnormal basal ganglia morphology
2639	GCDH	HP:0002179	Opisthotonus
2639	GCDH	HP:0003593	Infantile onset
2639	GCDH	HP:0002275	Poor motor coordination
2639	GCDH	HP:0002240	Hepatomegaly
2639	GCDH	HP:0003546	Exercise intolerance
2639	GCDH	HP:0003530	Elevated circulating glutaric acid concentration
2639	GCDH	HP:0009716	Subependymal nodules
2639	GCDH	HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity
2639	GCDH	HP:0011968	Feeding difficulties
2639	GCDH	HP:0002376	Developmental regression
2639	GCDH	HP:0002339	Abnormal caudate nucleus morphology
2639	GCDH	HP:0002321	Vertigo
2639	GCDH	HP:0002315	Headache
2639	GCDH	HP:0009830	Peripheral neuropathy
2639	GCDH	HP:0007132	Pallidal degeneration
2639	GCDH	HP:0007105	Infantile encephalopathy
2639	GCDH	HP:0003623	Neonatal onset
2639	GCDH	HP:0002305	Athetosis
2639	GCDH	HP:0003621	Juvenile onset
2639	GCDH	HP:0007185	Loss of consciousness
2639	GCDH	HP:0006873	Symmetrical progressive peripheral demyelination
2639	GCDH	HP:0006829	Severe muscular hypotonia
2639	GCDH	HP:0012622	Chronic kidney disease
2639	GCDH	HP:0001943	Hypoglycemia
2639	GCDH	HP:0001946	Ketosis
2639	GCDH	HP:0001942	Metabolic acidosis
2639	GCDH	HP:0006956	Lateral ventricle dilatation
2639	GCDH	HP:0031982	Abnormal putamen morphology
2639	GCDH	HP:0000750	Delayed speech and language development
2639	GCDH	HP:0012704	Widened subarachnoid space
2639	GCDH	HP:0000726	Dementia
2639	GCDH	HP:0011463	Childhood onset
2639	GCDH	HP:0012753	T2 hypointense basal ganglia
2639	GCDH	HP:0100309	Subdural hemorrhage
2639	GCDH	HP:0003150	Glutaric aciduria
2639	GCDH	HP:0004481	Progressive macrocephaly
2639	GCDH	HP:0003162	Fasting hypoglycemia
2639	GCDH	HP:0040194	Increased head circumference
2639	GCDH	HP:0000256	Macrocephaly
2639	GCDH	HP:0000238	Hydrocephalus
2639	GCDH	HP:0001508	Failure to thrive
2639	GCDH	HP:0012379	Abnormal circulating enzyme concentration or activity
2639	GCDH	HP:0002919	Ketonuria
2639	GCDH	HP:0012469	Infantile spasms
2639	GCDH	HP:0012448	Delayed myelination
2639	GCDH	HP:0000573	Retinal hemorrhage
2642	GCGR	HP:0031181	Necrolytic migratory erythema
2642	GCGR	HP:0000007	Autosomal recessive inheritance
2642	GCGR	HP:0002027	Abdominal pain
2642	GCGR	HP:0005978	Type II diabetes mellitus
2642	GCGR	HP:0002044	Zollinger-Ellison syndrome
2642	GCGR	HP:0003581	Adult onset
2642	GCGR	HP:0002321	Vertigo
2642	GCGR	HP:0001081	Cholelithiasis
2642	GCGR	HP:4000061	Pancreatic alpha-cell hyperplasia
2642	GCGR	HP:0001962	Palpitations
2642	GCGR	HP:0030688	Increased glucagon level
2642	GCGR	HP:0100027	Recurrent pancreatitis
2642	GCGR	HP:0000819	Diabetes mellitus
2642	GCGR	HP:0010280	Stomatitis
2642	GCGR	HP:0002894	Neoplasm of the pancreas
2642	GCGR	HP:0012440	Abnormal biliary tract morphology
2642	GCGR	HP:0030404	Glucagonoma
2643	GCH1	HP:0002487	Hyperkinetic movements
2643	GCH1	HP:0003785	Decreased CSF homovanillic acid concentration
2643	GCH1	HP:0003781	Excessive salivation
2643	GCH1	HP:0002451	Limb dystonia
2643	GCH1	HP:0007325	Generalized dystonia
2643	GCH1	HP:0001290	Generalized hypotonia
2643	GCH1	HP:0001254	Lethargy
2643	GCH1	HP:0001250	Seizure
2643	GCH1	HP:0001251	Ataxia
2643	GCH1	HP:0001249	Intellectual disability
2643	GCH1	HP:0001266	Choreoathetosis
2643	GCH1	HP:0001260	Dysarthria
2643	GCH1	HP:0001263	Global developmental delay
2643	GCH1	HP:0001257	Spasticity
2643	GCH1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
2643	GCH1	HP:0002509	Limb hypertonia
2643	GCH1	HP:0500223	Increased CSF phenylalanine concentration
2643	GCH1	HP:0033683	Jaw hyperreflexia
2643	GCH1	HP:0001370	Rheumatoid arthritis
2643	GCH1	HP:0001348	Brisk reflexes
2643	GCH1	HP:0001347	Hyperreflexia
2643	GCH1	HP:0001332	Dystonia
2643	GCH1	HP:0000007	Autosomal recessive inheritance
2643	GCH1	HP:0001337	Tremor
2643	GCH1	HP:0000006	Autosomal dominant inheritance
2643	GCH1	HP:0002650	Scoliosis
2643	GCH1	HP:0001300	Parkinsonism
2643	GCH1	HP:0002601	Paresis of extensor muscles of the big toe
2643	GCH1	HP:0002015	Dysphagia
2643	GCH1	HP:0002067	Bradykinesia
2643	GCH1	HP:0002066	Gait ataxia
2643	GCH1	HP:0002063	Rigidity
2643	GCH1	HP:0002075	Dysdiadochokinesis
2643	GCH1	HP:0002071	Abnormality of extrapyramidal motor function
2643	GCH1	HP:0003487	Babinski sign
2643	GCH1	HP:0002166	Impaired vibration sensation in the lower limbs
2643	GCH1	HP:0002174	Postural tremor
2643	GCH1	HP:0008297	Transient hyperphenylalaninemia
2643	GCH1	HP:0003593	Infantile onset
2643	GCH1	HP:0002395	Lower limb hyperreflexia
2643	GCH1	HP:0002396	Cogwheel rigidity
2643	GCH1	HP:0002360	Sleep disturbance
2643	GCH1	HP:0002344	Progressive neurologic deterioration
2643	GCH1	HP:0002356	Writer's cramp
2643	GCH1	HP:0002322	Resting tremor
2643	GCH1	HP:0002311	Incoordination
2643	GCH1	HP:0004923	Hyperphenylalaninemia
2643	GCH1	HP:0006829	Severe muscular hypotonia
2643	GCH1	HP:0006886	Impaired distal vibration sensation
2643	GCH1	HP:0006887	Intellectual disability, progressive
2643	GCH1	HP:0001954	Recurrent fever
2643	GCH1	HP:0000666	Horizontal nystagmus
2643	GCH1	HP:0004373	Focal dystonia
2643	GCH1	HP:0000737	Irritability
2643	GCH1	HP:0000739	Anxiety
2643	GCH1	HP:0000716	Depression
2643	GCH1	HP:0000722	Compulsive behaviors
2643	GCH1	HP:0011463	Childhood onset
2643	GCH1	HP:0000822	Hypertension
2643	GCH1	HP:0000821	Hypothyroidism
2643	GCH1	HP:0005876	Progressive flexion contractures
2643	GCH1	HP:0045007	Abnormal substantia nigra morphology
2643	GCH1	HP:0012378	Fatigue
2643	GCH1	HP:0000365	Hearing impairment
2643	GCH1	HP:0007979	Gaze-evoked horizontal nystagmus
2643	GCH1	HP:0000496	Abnormality of eye movement
2643	GCH1	HP:0000473	Torticollis
2643	GCH1	HP:0001762	Talipes equinovarus
2643	GCH1	HP:0001761	Pes cavus
2645	GCK	HP:0010935	Abnormality of the upper urinary tract
2645	GCK	HP:0010864	Intellectual disability, severe
2645	GCK	HP:0001270	Motor delay
2645	GCK	HP:0001250	Seizure
2645	GCK	HP:0001252	Hypotonia
2645	GCK	HP:0001251	Ataxia
2645	GCK	HP:0001249	Intellectual disability
2645	GCK	HP:0002594	Pancreatic hypoplasia
2645	GCK	HP:0001263	Global developmental delay
2645	GCK	HP:0001259	Coma
2645	GCK	HP:0000077	Abnormality of the kidney
2645	GCK	HP:0012028	Hepatocellular adenoma
2645	GCK	HP:0001324	Muscle weakness
2645	GCK	HP:0001325	Hypoglycemic coma
2645	GCK	HP:0000007	Autosomal recessive inheritance
2645	GCK	HP:0000006	Autosomal dominant inheritance
2645	GCK	HP:0001488	Bilateral ptosis
2645	GCK	HP:0006274	Reduced pancreatic beta cells
2645	GCK	HP:0000119	Abnormality of the genitourinary system
2645	GCK	HP:0000124	Renal tubular dysfunction
2645	GCK	HP:0000112	Nephropathy
2645	GCK	HP:0000107	Renal cyst
2645	GCK	HP:0002714	Downturned corners of mouth
2645	GCK	HP:0005978	Type II diabetes mellitus
2645	GCK	HP:0002069	Bilateral tonic-clonic seizure
2645	GCK	HP:0003477	Peripheral axonal neuropathy
2645	GCK	HP:0002123	Generalized myoclonic seizure
2645	GCK	HP:0002186	Apraxia
2645	GCK	HP:0002173	Hypoglycemic seizures
2645	GCK	HP:0008255	Transient neonatal diabetes mellitus
2645	GCK	HP:0008283	Fasting hyperinsulinemia
2645	GCK	HP:0002270	Abnormality of the autonomic nervous system
2645	GCK	HP:0003584	Late onset
2645	GCK	HP:0002378	Hand tremor
2645	GCK	HP:0100651	Type I diabetes mellitus
2645	GCK	HP:0003621	Juvenile onset
2645	GCK	HP:0004924	Abnormal oral glucose tolerance
2645	GCK	HP:0004904	Maturity-onset diabetes of the young
2645	GCK	HP:0031819	Increased waist to hip ratio
2645	GCK	HP:0001944	Dehydration
2645	GCK	HP:0001953	Diabetic ketoacidosis
2645	GCK	HP:0001952	Glucose intolerance
2645	GCK	HP:0001988	Recurrent hypoglycemia
2645	GCK	HP:0001985	Hypoketotic hypoglycemia
2645	GCK	HP:0012638	Abnormal nervous system physiology
2645	GCK	HP:0001998	Neonatal hypoglycemia
2645	GCK	HP:0003076	Glycosuria
2645	GCK	HP:0003074	Hyperglycemia
2645	GCK	HP:0011462	Young adult onset
2645	GCK	HP:0012758	Neurodevelopmental delay
2645	GCK	HP:0005750	Lower-limb joint contracture
2645	GCK	HP:0030795	Reduced C-peptide level
2645	GCK	HP:0030794	Abnormal circulating C-peptide concentration
2645	GCK	HP:0000855	Insulin resistance
2645	GCK	HP:0000857	Neonatal insulin-dependent diabetes mellitus
2645	GCK	HP:0000831	Insulin-resistant diabetes mellitus
2645	GCK	HP:0000819	Diabetes mellitus
2645	GCK	HP:0000825	Hyperinsulinemic hypoglycemia
2645	GCK	HP:0040214	Abnormal circulating insulin concentration
2645	GCK	HP:0040217	Elevated hemoglobin A1c
2645	GCK	HP:0040216	Hypoinsulinemia
2645	GCK	HP:0000956	Acanthosis nigricans
2645	GCK	HP:0030057	Autoimmune antibody positivity
2645	GCK	HP:0002804	Arthrogryposis multiplex congenita
2645	GCK	HP:0025502	Overweight
2645	GCK	HP:0001508	Failure to thrive
2645	GCK	HP:0001520	Large for gestational age
2645	GCK	HP:0001518	Small for gestational age
2645	GCK	HP:0001511	Intrauterine growth retardation
2645	GCK	HP:0001513	Obesity
2645	GCK	HP:0012378	Fatigue
2645	GCK	HP:0002919	Ketonuria
2645	GCK	HP:0000365	Hearing impairment
2645	GCK	HP:0001627	Abnormal heart morphology
2645	GCK	HP:0001738	Exocrine pancreatic insufficiency
2645	GCK	HP:0000488	Retinopathy
2645	GCK	HP:0011106	Hypovolemia
2645	GCK	HP:0005487	Prominent metopic ridge
2645	GCK	HP:0001824	Weight loss
2645	GCK	HP:0012594	Moderate albuminuria
2651	GCNT2	HP:0000007	Autosomal recessive inheritance
2651	GCNT2	HP:0000519	Developmental cataract
2652	OPN1MW	HP:0001131	Corneal dystrophy
2652	OPN1MW	HP:0012043	Pendular nystagmus
2652	OPN1MW	HP:0007663	Reduced visual acuity
2652	OPN1MW	HP:0001419	X-linked recessive inheritance
2652	OPN1MW	HP:0003577	Congenital onset
2652	OPN1MW	HP:0000639	Nystagmus
2652	OPN1MW	HP:0000613	Photophobia
2652	OPN1MW	HP:0000662	Nyctalopia
2652	OPN1MW	HP:0011520	Deuteranomaly
2652	OPN1MW	HP:0008002	Abnormality of macular pigmentation
2652	OPN1MW	HP:0007703	Abnormality of retinal pigmentation
2652	OPN1MW	HP:0007939	Blue cone monochromacy
2652	OPN1MW	HP:0000512	Abnormal electroretinogram
2652	OPN1MW	HP:0000505	Visual impairment
2652	OPN1MW	HP:0000551	Color vision defect
2652	OPN1MW	HP:0000545	Myopia
2653	GCSH	HP:0001298	Encephalopathy
2653	GCSH	HP:0001290	Generalized hypotonia
2653	GCSH	HP:0001274	Agenesis of corpus callosum
2653	GCSH	HP:0001254	Lethargy
2653	GCSH	HP:0001250	Seizure
2653	GCSH	HP:0001252	Hypotonia
2653	GCSH	HP:0001249	Intellectual disability
2653	GCSH	HP:0001265	Hyporeflexia
2653	GCSH	HP:0001347	Hyperreflexia
2653	GCSH	HP:0000007	Autosomal recessive inheritance
2653	GCSH	HP:0001336	Myoclonus
2653	GCSH	HP:0002154	Hyperglycinemia
2653	GCSH	HP:0100710	Impulsivity
2653	GCSH	HP:0000752	Hyperactivity
2653	GCSH	HP:0000737	Irritability
2653	GCSH	HP:0000718	Aggressive behavior
2653	GCSH	HP:0000711	Restlessness
2653	GCSH	HP:0003108	Hyperglycinuria
2653	GCSH	HP:0100247	Recurrent singultus
2653	GCSH	HP:0001522	Death in infancy
2657	GDF1	HP:0001156	Brachydactyly
2657	GDF1	HP:0009891	Underdeveloped supraorbital ridges
2657	GDF1	HP:0001274	Agenesis of corpus callosum
2657	GDF1	HP:0012020	Right aortic arch
2657	GDF1	HP:0000023	Inguinal hernia
2657	GDF1	HP:0000028	Cryptorchidism
2657	GDF1	HP:0000007	Autosomal recessive inheritance
2657	GDF1	HP:0000006	Autosomal dominant inheritance
2657	GDF1	HP:0002101	Abnormal lung lobation
2657	GDF1	HP:0032092	Left ventricular outflow tract obstruction
2657	GDF1	HP:0004935	Pulmonary artery atresia
2657	GDF1	HP:0031834	Aortopulmonary collateral arteries
2657	GDF1	HP:0004209	Clinodactyly of the 5th finger
2657	GDF1	HP:0004467	Preauricular pit
2657	GDF1	HP:0011536	Right atrial isomerism
2657	GDF1	HP:0011565	Common atrium
2657	GDF1	HP:0000268	Dolichocephaly
2657	GDF1	HP:0005105	Abnormal nasal morphology
2657	GDF1	HP:0000233	Thin vermilion border
2657	GDF1	HP:0001511	Intrauterine growth retardation
2657	GDF1	HP:0005160	Total anomalous pulmonary venous return
2657	GDF1	HP:0001696	Situs inversus totalis
2657	GDF1	HP:0001674	Complete atrioventricular canal defect
2657	GDF1	HP:0001669	Transposition of the great arteries
2657	GDF1	HP:0000337	Broad forehead
2657	GDF1	HP:0001684	Secundum atrial septal defect
2657	GDF1	HP:0001680	Coarctation of aorta
2657	GDF1	HP:0001651	Dextrocardia
2657	GDF1	HP:0001642	Pulmonic stenosis
2657	GDF1	HP:0001629	Ventricular septal defect
2657	GDF1	HP:0001636	Tetralogy of Fallot
2657	GDF1	HP:0001631	Atrial septal defect
2657	GDF1	HP:0005304	Hypoplastic pulmonary veins
2657	GDF1	HP:0001719	Double outlet right ventricle
2657	GDF1	HP:0031565	Abdominal situs ambiguus
2657	GDF1	HP:0001750	Single ventricle
2657	GDF1	HP:0001746	Asplenia
2657	GDF1	HP:0001748	Polysplenia
2657	GDF1	HP:0000520	Proptosis
2658	GDF2	HP:0001250	Seizure
2658	GDF2	HP:0007420	Spontaneous hematomas
2658	GDF2	HP:0001399	Hepatic failure
2658	GDF2	HP:0001394	Cirrhosis
2658	GDF2	HP:0001342	Cerebral hemorrhage
2658	GDF2	HP:0000006	Autosomal dominant inheritance
2658	GDF2	HP:0001409	Portal hypertension
2658	GDF2	HP:0002092	Pulmonary arterial hypertension
2658	GDF2	HP:0002076	Migraine
2658	GDF2	HP:0002040	Esophageal varix
2658	GDF2	HP:0100585	Telangiectasia of the skin
2658	GDF2	HP:0100579	Mucosal telangiectasiae
2658	GDF2	HP:0002138	Subarachnoid hemorrhage
2658	GDF2	HP:0002105	Hemoptysis
2658	GDF2	HP:0002239	Gastrointestinal hemorrhage
2658	GDF2	HP:0002204	Pulmonary embolism
2658	GDF2	HP:0100784	Peripheral arteriovenous fistula
2658	GDF2	HP:0100761	Visceral angiomatosis
2658	GDF2	HP:0001048	Cavernous hemangioma
2658	GDF2	HP:0001009	Telangiectasia
2658	GDF2	HP:0002326	Transient ischemic attack
2658	GDF2	HP:0100659	Abnormal cerebral vascular morphology
2658	GDF2	HP:0200008	Intestinal polyposis
2658	GDF2	HP:0001081	Cholelithiasis
2658	GDF2	HP:0001082	Cholecystitis
2658	GDF2	HP:0004936	Venous thrombosis
2658	GDF2	HP:0000646	Amblyopia
2658	GDF2	HP:0001935	Microcytic anemia
2658	GDF2	HP:0100026	Arteriovenous malformation
2658	GDF2	HP:0000790	Hematuria
2658	GDF2	HP:0000787	Nephrolithiasis
2658	GDF2	HP:0004406	Spontaneous, recurrent epistaxis
2658	GDF2	HP:0007763	Retinal telangiectasia
2658	GDF2	HP:0011025	Abnormal cardiovascular system physiology
2658	GDF2	HP:0002910	Elevated hepatic transaminase
2658	GDF2	HP:0001635	Congestive heart failure
2658	GDF2	HP:0000421	Epistaxis
2658	GDF2	HP:0000524	Conjunctival telangiectasia
2660	MSTN	HP:0003712	Skeletal muscle hypertrophy
2660	MSTN	HP:0001348	Brisk reflexes
2660	MSTN	HP:0000007	Autosomal recessive inheritance
2661	GDF9	HP:0000007	Autosomal recessive inheritance
2661	GDF9	HP:0008232	Elevated circulating follicle stimulating hormone level
2661	GDF9	HP:0008214	Decreased serum estradiol
2661	GDF9	HP:0011969	Elevated circulating luteinizing hormone level
2661	GDF9	HP:0011462	Young adult onset
2661	GDF9	HP:0000786	Primary amenorrhea
2664	GDI1	HP:0010864	Intellectual disability, severe
2664	GDI1	HP:0001256	Intellectual disability, mild
2664	GDI1	HP:0001249	Intellectual disability
2664	GDI1	HP:0001263	Global developmental delay
2664	GDI1	HP:0001328	Specific learning disability
2664	GDI1	HP:0008936	Axial hypotonia
2664	GDI1	HP:0001423	X-linked dominant inheritance
2664	GDI1	HP:0001417	X-linked inheritance
2664	GDI1	HP:0002121	Generalized non-motor (absence) seizure
2668	GDNF	HP:0001181	Adducted thumb
2668	GDNF	HP:0100806	Sepsis
2668	GDNF	HP:0001250	Seizure
2668	GDNF	HP:0001252	Hypotonia
2668	GDNF	HP:0001249	Intellectual disability
2668	GDNF	HP:0000006	Autosomal dominant inheritance
2668	GDNF	HP:0002019	Constipation
2668	GDNF	HP:0002017	Nausea and vomiting
2668	GDNF	HP:0002027	Abdominal pain
2668	GDNF	HP:0002014	Diarrhea
2668	GDNF	HP:0100543	Cognitive impairment
2668	GDNF	HP:0002093	Respiratory insufficiency
2668	GDNF	HP:0002270	Abnormality of the autonomic nervous system
2668	GDNF	HP:0003577	Congenital onset
2668	GDNF	HP:0002251	Aganglionic megacolon
2668	GDNF	HP:0200008	Intestinal polyposis
2668	GDNF	HP:0004322	Short stature
2668	GDNF	HP:0003005	Ganglioneuroma
2668	GDNF	HP:0003006	Neuroblastoma
2668	GDNF	HP:0100006	Neoplasm of the central nervous system
2668	GDNF	HP:0100031	Neoplasm of the thyroid gland
2668	GDNF	HP:0012719	Functional abnormality of the gastrointestinal tract
2668	GDNF	HP:0001531	Failure to thrive in infancy
2668	GDNF	HP:0005214	Intestinal obstruction
2668	GDNF	HP:0000407	Sensorineural hearing impairment
2668	GDNF	HP:0006747	Ganglioneuroblastoma
2668	GDNF	HP:0011286	Total colonic aganglionosis
2668	GDNF	HP:0011285	Long-segment aganglionic megacolon
2668	GDNF	HP:0001824	Weight loss
2670	GFAP	HP:0002483	Bulbar signs
2670	GFAP	HP:0007256	Abnormal pyramidal sign
2670	GFAP	HP:0010873	Cervical spinal cord atrophy
2670	GFAP	HP:0001290	Generalized hypotonia
2670	GFAP	HP:0001272	Cerebellar atrophy
2670	GFAP	HP:0001250	Seizure
2670	GFAP	HP:0001252	Hypotonia
2670	GFAP	HP:0001251	Ataxia
2670	GFAP	HP:0001260	Dysarthria
2670	GFAP	HP:0001263	Global developmental delay
2670	GFAP	HP:0001257	Spasticity
2670	GFAP	HP:0002518	Abnormal periventricular white matter morphology
2670	GFAP	HP:0002500	Abnormal cerebral white matter morphology
2670	GFAP	HP:0003819	Death in childhood
2670	GFAP	HP:0012043	Pendular nystagmus
2670	GFAP	HP:0001347	Hyperreflexia
2670	GFAP	HP:0000006	Autosomal dominant inheritance
2670	GFAP	HP:0001310	Dysmetria
2670	GFAP	HP:0002650	Scoliosis
2670	GFAP	HP:0025492	Microcoria
2670	GFAP	HP:0002015	Dysphagia
2670	GFAP	HP:0002013	Vomiting
2670	GFAP	HP:0002063	Rigidity
2670	GFAP	HP:0003487	Babinski sign
2670	GFAP	HP:0010530	Palatal tremor
2670	GFAP	HP:0003593	Infantile onset
2670	GFAP	HP:0002360	Sleep disturbance
2670	GFAP	HP:0003690	Limb muscle weakness
2670	GFAP	HP:0002376	Developmental regression
2670	GFAP	HP:0002313	Spastic paraparesis
2670	GFAP	HP:0002329	Drowsiness
2670	GFAP	HP:0007162	Diffuse demyelination of the cerebral white matter
2670	GFAP	HP:0007109	Periventricular cysts
2670	GFAP	HP:0003621	Juvenile onset
2670	GFAP	HP:0007183	Focal T2 hyperintense basal ganglia lesion
2670	GFAP	HP:0000639	Nystagmus
2670	GFAP	HP:0012696	Abnormal thalamic MRI signal intensity
2670	GFAP	HP:0004326	Cachexia
2670	GFAP	HP:0000741	Apathy
2670	GFAP	HP:0011463	Childhood onset
2670	GFAP	HP:0011441	Abnormal medulla oblongata morphology
2670	GFAP	HP:0011421	Death in adolescence
2670	GFAP	HP:0100321	Abnormal dentate nucleus morphology
2670	GFAP	HP:0100320	Rosenthal fibers
2670	GFAP	HP:0004481	Progressive macrocephaly
2670	GFAP	HP:0000238	Hydrocephalus
2670	GFAP	HP:0001522	Death in infancy
2670	GFAP	HP:0001508	Failure to thrive
2670	GFAP	HP:0002839	Urinary bladder sphincter dysfunction
2670	GFAP	HP:0012378	Fatigue
2670	GFAP	HP:0001618	Dysphonia
2670	GFAP	HP:0002922	Increased CSF protein concentration
2670	GFAP	HP:0012332	Abnormal autonomic nervous system physiology
2670	GFAP	HP:0025710	Late young adult onset
2671	GFER	HP:0001252	Hypotonia
2671	GFER	HP:0001263	Global developmental delay
2671	GFER	HP:0001324	Muscle weakness
2671	GFER	HP:0000007	Autosomal recessive inheritance
2671	GFER	HP:0001315	Reduced tendon reflexes
2671	GFER	HP:0008972	Decreased activity of mitochondrial respiratory chain
2671	GFER	HP:0002079	Hypoplasia of the corpus callosum
2671	GFER	HP:0009062	Infantile axial hypotonia
2671	GFER	HP:0003198	Myopathy
2671	GFER	HP:0003128	Lactic acidosis
2671	GFER	HP:0030089	Abnormal muscle fiber protein expression
2671	GFER	HP:0001583	Rotary nystagmus
2671	GFER	HP:0012343	Decreased circulating ferritin concentration
2671	GFER	HP:0000408	Progressive sensorineural hearing impairment
2671	GFER	HP:0000407	Sensorineural hearing impairment
2671	GFER	HP:0000518	Cataract
2671	GFER	HP:0000519	Developmental cataract
2671	GFER	HP:0000508	Ptosis
2672	GFI1	HP:0010976	B lymphocytopenia
2672	GFI1	HP:0000006	Autosomal dominant inheritance
2672	GFI1	HP:0025452	Pyoderma gangrenosum
2672	GFI1	HP:0025439	Pharyngitis
2672	GFI1	HP:0000155	Oral ulcer
2672	GFI1	HP:0410018	Recurrent ear infections
2672	GFI1	HP:0002718	Recurrent bacterial infections
2672	GFI1	HP:0002027	Abdominal pain
2672	GFI1	HP:0002014	Diarrhea
2672	GFI1	HP:0002090	Pneumonia
2672	GFI1	HP:0003453	Antineutrophil antibody positivity
2672	GFI1	HP:0004798	Recurrent infection of the gastrointestinal tract
2672	GFI1	HP:0004808	Acute myeloid leukemia
2672	GFI1	HP:0001028	Hemangioma
2672	GFI1	HP:0100658	Cellulitis
2672	GFI1	HP:0001945	Fever
2672	GFI1	HP:0001909	Leukemia
2672	GFI1	HP:0001915	Aplastic anemia
2672	GFI1	HP:0000704	Periodontitis
2672	GFI1	HP:0004429	Recurrent viral infections
2672	GFI1	HP:0000938	Osteopenia
2672	GFI1	HP:0001581	Recurrent skin infections
2672	GFI1	HP:0000230	Gingivitis
2672	GFI1	HP:0002863	Myelodysplasia
2672	GFI1	HP:0012384	Rhinitis
2672	GFI1	HP:0006480	Premature loss of teeth
2672	GFI1	HP:0012311	Monocytosis
2672	GFI1	HP:0011107	Recurrent aphthous stomatitis
2672	GFI1	HP:0005425	Recurrent sinopulmonary infections
2672	GFI1	HP:0006721	Acute lymphoblastic leukemia
2672	GFI1	HP:0001888	Lymphopenia
2672	GFI1	HP:0001880	Eosinophilia
2672	GFI1	HP:0001875	Neutropenia
2673	GFPT1	HP:0002460	Distal muscle weakness
2673	GFPT1	HP:0002421	Poor head control
2673	GFPT1	HP:0003701	Proximal muscle weakness
2673	GFPT1	HP:0001290	Generalized hypotonia
2673	GFPT1	HP:0001270	Motor delay
2673	GFPT1	HP:0001284	Areflexia
2673	GFPT1	HP:0001252	Hypotonia
2673	GFPT1	HP:0001260	Dysarthria
2673	GFPT1	HP:0002515	Waddling gait
2673	GFPT1	HP:0003828	Variable expressivity
2673	GFPT1	HP:0003803	Type 1 muscle fiber predominance
2673	GFPT1	HP:0001371	Flexion contracture
2673	GFPT1	HP:0001388	Joint laxity
2673	GFPT1	HP:0000007	Autosomal recessive inheritance
2673	GFPT1	HP:0002650	Scoliosis
2673	GFPT1	HP:0002747	Respiratory insufficiency due to muscle weakness
2673	GFPT1	HP:0003325	Limb-girdle muscle weakness
2673	GFPT1	HP:0002015	Dysphagia
2673	GFPT1	HP:0003394	Muscle spasm
2673	GFPT1	HP:0003391	Gowers sign
2673	GFPT1	HP:0003388	Easy fatigability
2673	GFPT1	HP:0008180	Mildly elevated creatine kinase
2673	GFPT1	HP:0003473	Fatigable weakness
2673	GFPT1	HP:0003443	Decreased size of nerve terminals
2673	GFPT1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
2673	GFPT1	HP:0003593	Infantile onset
2673	GFPT1	HP:0003554	Type 2 muscle fiber atrophy
2673	GFPT1	HP:0003551	Difficulty climbing stairs
2673	GFPT1	HP:0011968	Feeding difficulties
2673	GFPT1	HP:0010628	Facial palsy
2673	GFPT1	HP:0003691	Scapular winging
2673	GFPT1	HP:0002359	Frequent falls
2673	GFPT1	HP:0002355	Difficulty walking
2673	GFPT1	HP:0003680	Nonprogressive
2673	GFPT1	HP:0007126	Proximal amyotrophy
2673	GFPT1	HP:0003621	Juvenile onset
2673	GFPT1	HP:0009046	Difficulty running
2673	GFPT1	HP:0009028	Generalized weakness of limb muscles
2673	GFPT1	HP:0000689	Dental malocclusion
2673	GFPT1	HP:0011463	Childhood onset
2673	GFPT1	HP:0003198	Myopathy
2673	GFPT1	HP:0003199	Decreased muscle mass
2673	GFPT1	HP:0100301	Muscle fiber tubular inclusions
2673	GFPT1	HP:0003236	Elevated circulating creatine kinase concentration
2673	GFPT1	HP:0003202	Skeletal muscle atrophy
2673	GFPT1	HP:0003200	Ragged-red muscle fibers
2673	GFPT1	HP:0000276	Long face
2673	GFPT1	HP:0002804	Arthrogryposis multiplex congenita
2673	GFPT1	HP:0006380	Knee flexion contracture
2673	GFPT1	HP:0000218	High palate
2673	GFPT1	HP:0001558	Decreased fetal movement
2673	GFPT1	HP:0030205	Increased jitter at single fiber EMG
2673	GFPT1	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors
2673	GFPT1	HP:0002938	Lumbar hyperlordosis
2673	GFPT1	HP:0030191	Abnormal peripheral nervous system synaptic transmission
2673	GFPT1	HP:0001612	Weak cry
2673	GFPT1	HP:0000303	Mandibular prognathia
2673	GFPT1	HP:0000486	Strabismus
2673	GFPT1	HP:0000467	Neck muscle weakness
2673	GFPT1	HP:0001763	Pes planus
2673	GFPT1	HP:0000508	Ptosis
2673	GFPT1	HP:0000597	Ophthalmoparesis
2674	GFRA1	HP:0010958	Bilateral renal agenesis
2674	GFRA1	HP:0002575	Tracheoesophageal fistula
2674	GFRA1	HP:0000008	Abnormal morphology of female internal genitalia
2674	GFRA1	HP:0000007	Autosomal recessive inheritance
2674	GFRA1	HP:0000175	Cleft palate
2674	GFRA1	HP:0000104	Renal agenesis
2674	GFRA1	HP:0002009	Potter facies
2674	GFRA1	HP:0002089	Pulmonary hypoplasia
2674	GFRA1	HP:0100589	Urogenital fistula
2674	GFRA1	HP:0010497	Sirenomelia
2674	GFRA1	HP:0003577	Congenital onset
2674	GFRA1	HP:0002242	Abnormal intestine morphology
2674	GFRA1	HP:0001958	Nonketotic hypoglycemia
2674	GFRA1	HP:0030680	Abnormality of cardiovascular system morphology
2674	GFRA1	HP:0034198	Second trimester onset
2674	GFRA1	HP:0100335	Non-midline cleft lip
2674	GFRA1	HP:0000286	Epicanthus
2674	GFRA1	HP:0005107	Abnormal sacrum morphology
2674	GFRA1	HP:0002878	Respiratory failure
2674	GFRA1	HP:0001562	Oligohydramnios
2674	GFRA1	HP:0001563	Fetal polyuria
2674	GFRA1	HP:0000369	Low-set ears
2674	GFRA1	HP:0000316	Hypertelorism
2674	GFRA1	HP:0000457	Depressed nasal ridge
2674	GFRA1	HP:0025700	Anhydramnios
2677	GGCX	HP:0009882	Short distal phalanx of finger
2677	GGCX	HP:0001102	Angioid streaks of the fundus
2677	GGCX	HP:0007522	Increased number of skin folds
2677	GGCX	HP:0001342	Cerebral hemorrhage
2677	GGCX	HP:0000007	Autosomal recessive inheritance
2677	GGCX	HP:0002621	Atherosclerosis
2677	GGCX	HP:0008169	Reduced factor VII activity
2677	GGCX	HP:0008151	Prolonged prothrombin time
2677	GGCX	HP:0011858	Reduced factor IX activity
2677	GGCX	HP:0003593	Infantile onset
2677	GGCX	HP:0004855	Reduced protein S activity
2677	GGCX	HP:0010655	Epiphyseal stippling
2677	GGCX	HP:0008321	Reduced factor X activity
2677	GGCX	HP:0003645	Prolonged partial thromboplastin time
2677	GGCX	HP:0200034	Papule
2677	GGCX	HP:0001098	Abnormal fundus morphology
2677	GGCX	HP:0003623	Neonatal onset
2677	GGCX	HP:0004944	Dilatation of the cerebral artery
2677	GGCX	HP:0005543	Reduced protein C activity
2677	GGCX	HP:0001928	Abnormality of coagulation
2677	GGCX	HP:0000662	Nyctalopia
2677	GGCX	HP:0011462	Young adult onset
2677	GGCX	HP:0003196	Short nose
2677	GGCX	HP:0000978	Bruising susceptibility
2677	GGCX	HP:0000973	Cutis laxa
2677	GGCX	HP:0033027	Retinal peau d'orange
2677	GGCX	HP:0001582	Redundant skin
2677	GGCX	HP:0025507	Yellow papule
2677	GGCX	HP:0031364	Ecchymosis
2677	GGCX	HP:0007843	Attenuation of retinal blood vessels
2677	GGCX	HP:0005261	Joint hemorrhage
2677	GGCX	HP:0002910	Elevated hepatic transaminase
2677	GGCX	HP:0007980	Absent retinal pigment epithelium
2677	GGCX	HP:0000486	Strabismus
2677	GGCX	HP:0000421	Epistaxis
2677	GGCX	HP:0000510	Rod-cone dystrophy
2677	GGCX	HP:0000587	Abnormal optic nerve morphology
2677	GGCX	HP:0001892	Abnormal bleeding
2678	GGT1	HP:0001274	Agenesis of corpus callosum
2678	GGT1	HP:0001249	Intellectual disability
2678	GGT1	HP:0001263	Global developmental delay
2678	GGT1	HP:0000020	Urinary incontinence
2678	GGT1	HP:0001347	Hyperreflexia
2678	GGT1	HP:0000007	Autosomal recessive inheritance
2678	GGT1	HP:0001337	Tremor
2678	GGT1	HP:0002019	Constipation
2678	GGT1	HP:0002099	Asthma
2678	GGT1	HP:0002075	Dysdiadochokinesis
2678	GGT1	HP:0034445	Reduced gamma-glutamyltransferase level
2678	GGT1	HP:0034586	Glutathionuria
2678	GGT1	HP:0003593	Infantile onset
2678	GGT1	HP:0002282	Gray matter heterotopia
2678	GGT1	HP:0002345	Action tremor
2678	GGT1	HP:0000601	Hypotelorism
2678	GGT1	HP:0000964	Eczema
2678	GGT1	HP:0000486	Strabismus
2683	B4GALT1	HP:0001252	Hypotonia
2683	B4GALT1	HP:0001263	Global developmental delay
2683	B4GALT1	HP:0000007	Autosomal recessive inheritance
2683	B4GALT1	HP:0001305	Dandy-Walker malformation
2683	B4GALT1	HP:0001321	Cerebellar hypoplasia
2683	B4GALT1	HP:0008947	Infantile muscular hypotonia
2683	B4GALT1	HP:0005989	Redundant neck skin
2683	B4GALT1	HP:0002014	Diarrhea
2683	B4GALT1	HP:0003577	Congenital onset
2683	B4GALT1	HP:0002240	Hepatomegaly
2683	B4GALT1	HP:0003563	Decreased LDL cholesterol concentration
2683	B4GALT1	HP:0004855	Reduced protein S activity
2683	B4GALT1	HP:0003645	Prolonged partial thromboplastin time
2683	B4GALT1	HP:0005543	Reduced protein C activity
2683	B4GALT1	HP:0001976	Reduced antithrombin III activity
2683	B4GALT1	HP:0009062	Infantile axial hypotonia
2683	B4GALT1	HP:0001999	Abnormal facial shape
2683	B4GALT1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
2683	B4GALT1	HP:0003198	Myopathy
2683	B4GALT1	HP:0003199	Decreased muscle mass
2683	B4GALT1	HP:0003186	Inverted nipples
2683	B4GALT1	HP:0003160	Abnormal isoelectric focusing of serum transferrin
2683	B4GALT1	HP:0000821	Hypothyroidism
2683	B4GALT1	HP:0003236	Elevated circulating creatine kinase concentration
2683	B4GALT1	HP:0003256	Abnormality of the coagulation cascade
2683	B4GALT1	HP:0000969	Edema
2683	B4GALT1	HP:0000256	Macrocephaly
2683	B4GALT1	HP:0000238	Hydrocephalus
2683	B4GALT1	HP:0000219	Thin upper lip vermilion
2683	B4GALT1	HP:0001518	Small for gestational age
2683	B4GALT1	HP:0012379	Abnormal circulating enzyme concentration or activity
2683	B4GALT1	HP:0002910	Elevated hepatic transaminase
2683	B4GALT1	HP:0011003	High myopia
2683	B4GALT1	HP:0000369	Low-set ears
2683	B4GALT1	HP:0000343	Long philtrum
2683	B4GALT1	HP:0012301	Type II transferrin isoform profile
2683	B4GALT1	HP:0000316	Hypertelorism
2683	B4GALT1	HP:0001622	Premature birth
2683	B4GALT1	HP:0011123	Inflammatory abnormality of the skin
2683	B4GALT1	HP:0001744	Splenomegaly
2683	B4GALT1	HP:0000431	Wide nasal bridge
2683	B4GALT1	HP:0001892	Abnormal bleeding
2683	B4GALT1	HP:0000545	Myopia
2688	GH1	HP:0000007	Autosomal recessive inheritance
2688	GH1	HP:0000006	Autosomal dominant inheritance
2688	GH1	HP:0002650	Scoliosis
2688	GH1	HP:0002750	Delayed skeletal maturation
2688	GH1	HP:0003593	Infantile onset
2688	GH1	HP:0010627	Anterior pituitary hypoplasia
2688	GH1	HP:0003510	Severe short stature
2688	GH1	HP:0001943	Hypoglycemia
2688	GH1	HP:0001939	Abnormality of metabolism/homeostasis
2688	GH1	HP:0004322	Short stature
2688	GH1	HP:0011463	Childhood onset
2688	GH1	HP:0004474	Persistent open anterior fontanelle
2688	GH1	HP:0000839	Pituitary dwarfism
2688	GH1	HP:0000824	Decreased response to growth hormone stimulation test
2688	GH1	HP:0034323	Reduced circulating growth hormone concentration
2688	GH1	HP:0001510	Growth delay
2688	GH1	HP:0006579	Prolonged neonatal jaundice
2688	GH1	HP:0000348	High forehead
2688	GH1	HP:0000457	Depressed nasal ridge
2688	GH1	HP:0030353	Decreased serum insulin-like growth factor 1
2690	GHR	HP:0001156	Brachydactyly
2690	GHR	HP:0001114	Xanthelasma
2690	GHR	HP:0009924	Aplasia/Hypoplasia involving the nose
2690	GHR	HP:0010874	Tendon xanthomatosis
2690	GHR	HP:0009891	Underdeveloped supraorbital ridges
2690	GHR	HP:0001270	Motor delay
2690	GHR	HP:0001249	Intellectual disability
2690	GHR	HP:0008736	Hypoplasia of penis
2690	GHR	HP:0001367	Abnormal joint morphology
2690	GHR	HP:0007495	Prematurely aged appearance
2690	GHR	HP:0000007	Autosomal recessive inheritance
2690	GHR	HP:0000006	Autosomal dominant inheritance
2690	GHR	HP:0002758	Osteoarthritis
2690	GHR	HP:0002750	Delayed skeletal maturation
2690	GHR	HP:0011800	Midface retrusion
2690	GHR	HP:0003510	Severe short stature
2690	GHR	HP:0009826	Limb undergrowth
2690	GHR	HP:0009804	Tooth agenesis
2690	GHR	HP:0009811	Abnormality of the elbow
2690	GHR	HP:0001084	Corneal arcus
2690	GHR	HP:0001943	Hypoglycemia
2690	GHR	HP:0001956	Truncal obesity
2690	GHR	HP:0000684	Delayed eruption of teeth
2690	GHR	HP:0000691	Microdontia
2690	GHR	HP:0001999	Abnormal facial shape
2690	GHR	HP:0004322	Short stature
2690	GHR	HP:0003026	Short long bone
2690	GHR	HP:0011463	Childhood onset
2690	GHR	HP:0003124	Hypercholesterolemia
2690	GHR	HP:0000929	Abnormal skull morphology
2690	GHR	HP:0003141	Increased LDL cholesterol concentration
2690	GHR	HP:0000818	Abnormality of the endocrine system
2690	GHR	HP:0000823	Delayed puberty
2690	GHR	HP:0000966	Hypohidrosis
2690	GHR	HP:0000274	Small face
2690	GHR	HP:0001510	Growth delay
2690	GHR	HP:0000348	High forehead
2690	GHR	HP:0000347	Micrognathia
2690	GHR	HP:0001677	Coronary artery atherosclerosis
2690	GHR	HP:0001620	High pitched voice
2690	GHR	HP:0005281	Hypoplastic nasal bridge
2690	GHR	HP:0000457	Depressed nasal ridge
2690	GHR	HP:0001831	Short toe
2690	GHR	HP:0030353	Decreased serum insulin-like growth factor 1
2690	GHR	HP:0012569	Delayed menarche
2690	GHR	HP:0000592	Blue sclerae
2692	GHRHR	HP:0031079	Impaired growth-hormone response to insulin stimulation test
2692	GHRHR	HP:0000007	Autosomal recessive inheritance
2692	GHRHR	HP:0002750	Delayed skeletal maturation
2692	GHRHR	HP:0010627	Anterior pituitary hypoplasia
2692	GHRHR	HP:0003510	Severe short stature
2692	GHRHR	HP:0000824	Decreased response to growth hormone stimulation test
2692	GHRHR	HP:0030353	Decreased serum insulin-like growth factor 1
2693	GHSR	HP:0008897	Postnatal growth retardation
2693	GHSR	HP:0000007	Autosomal recessive inheritance
2693	GHSR	HP:0000006	Autosomal dominant inheritance
2693	GHSR	HP:0002750	Delayed skeletal maturation
2693	GHSR	HP:0002027	Abdominal pain
2693	GHSR	HP:0002013	Vomiting
2693	GHSR	HP:0001943	Hypoglycemia
2693	GHSR	HP:0001946	Ketosis
2693	GHSR	HP:0004325	Decreased body weight
2693	GHSR	HP:0004323	Abnormality of body weight
2693	GHSR	HP:0004322	Short stature
2693	GHSR	HP:0000824	Decreased response to growth hormone stimulation test
2693	GHSR	HP:0000823	Delayed puberty
2693	GHSR	HP:0001510	Growth delay
2693	GHSR	HP:0012506	Small pituitary gland
2693	GHSR	HP:0030353	Decreased serum insulin-like growth factor 1
2694	CBLIF	HP:0000007	Autosomal recessive inheritance
2694	CBLIF	HP:0025435	Increased circulating lactate dehydrogenase concentration
2694	CBLIF	HP:0100502	Vitamin B12 deficiency
2694	CBLIF	HP:0003474	Somatic sensory dysfunction
2694	CBLIF	HP:0003401	Paresthesia
2694	CBLIF	HP:0200143	Megaloblastic erythroid hyperplasia
2694	CBLIF	HP:0200118	Malabsorption of Vitamin B12
2694	CBLIF	HP:0020181	Reduced haptoglobin level
2694	CBLIF	HP:0003621	Juvenile onset
2694	CBLIF	HP:0005518	Increased mean corpuscular volume
2694	CBLIF	HP:0031965	Increased RBC distribution width
2694	CBLIF	HP:0011463	Childhood onset
2694	CBLIF	HP:0005219	Absence of intrinsic factor
2694	CBLIF	HP:0001889	Megaloblastic anemia
2697	GJA1	HP:0001177	Preaxial hand polydactyly
2697	GJA1	HP:0009900	Unilateral deafness
2697	GJA1	HP:0001182	Tapered finger
2697	GJA1	HP:0001156	Brachydactyly
2697	GJA1	HP:0001161	Hand polydactyly
2697	GJA1	HP:0025114	Hypergranulosis
2697	GJA1	HP:0001159	Syndactyly
2697	GJA1	HP:0002435	Meningocele
2697	GJA1	HP:0009917	Persistent pupillary membrane
2697	GJA1	HP:0008572	External ear malformation
2697	GJA1	HP:0009886	Trichorrhexis nodosa
2697	GJA1	HP:0001291	Abnormal cranial nerve morphology
2697	GJA1	HP:0001288	Gait disturbance
2697	GJA1	HP:0001250	Seizure
2697	GJA1	HP:0001251	Ataxia
2697	GJA1	HP:0001249	Intellectual disability
2697	GJA1	HP:0001260	Dysarthria
2697	GJA1	HP:0001263	Global developmental delay
2697	GJA1	HP:0001257	Spasticity
2697	GJA1	HP:0001231	Abnormal fingernail morphology
2697	GJA1	HP:0006101	Finger syndactyly
2697	GJA1	HP:0007400	Irregular hyperpigmentation
2697	GJA1	HP:0031057	Skin fissure
2697	GJA1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2697	GJA1	HP:0010983	Oligogenic inheritance
2697	GJA1	HP:0002514	Cerebral calcification
2697	GJA1	HP:0002500	Abnormal cerebral white matter morphology
2697	GJA1	HP:0001347	Hyperreflexia
2697	GJA1	HP:0000035	Abnormal testis morphology
2697	GJA1	HP:0007556	Plantar hyperkeratosis
2697	GJA1	HP:0007543	Epidermal hyperkeratosis
2697	GJA1	HP:0001324	Muscle weakness
2697	GJA1	HP:0000011	Neurogenic bladder
2697	GJA1	HP:0000007	Autosomal recessive inheritance
2697	GJA1	HP:0000006	Autosomal dominant inheritance
2697	GJA1	HP:0002652	Skeletal dysplasia
2697	GJA1	HP:0025493	Palmoplantar erythema
2697	GJA1	HP:0000187	Broad alveolar ridges
2697	GJA1	HP:0000161	Median cleft lip
2697	GJA1	HP:0000160	Narrow mouth
2697	GJA1	HP:0000175	Cleft palate
2697	GJA1	HP:0006323	Premature loss of primary teeth
2697	GJA1	HP:0006297	Enamel hypoplasia
2697	GJA1	HP:0001426	Multifactorial inheritance
2697	GJA1	HP:0002750	Delayed skeletal maturation
2697	GJA1	HP:0002007	Frontal bossing
2697	GJA1	HP:0003312	Abnormal form of the vertebral bodies
2697	GJA1	HP:0002092	Pulmonary arterial hypertension
2697	GJA1	HP:0010445	Primum atrial septal defect
2697	GJA1	HP:0011705	First degree atrioventricular block
2697	GJA1	HP:0010491	Digital constriction ring
2697	GJA1	HP:0002135	Basal ganglia calcification
2697	GJA1	HP:0002164	Nail dysplasia
2697	GJA1	HP:0100490	Camptodactyly of finger
2697	GJA1	HP:0011838	Sclerodactyly
2697	GJA1	HP:0002273	Tetraparesis
2697	GJA1	HP:0003577	Congenital onset
2697	GJA1	HP:0002223	Absent eyebrow
2697	GJA1	HP:0002217	Slow-growing hair
2697	GJA1	HP:0002230	Generalized hirsutism
2697	GJA1	HP:0002212	Curly hair
2697	GJA1	HP:0002213	Fine hair
2697	GJA1	HP:0002209	Sparse scalp hair
2697	GJA1	HP:0009748	Large earlobe
2697	GJA1	HP:0100774	Hyperostosis
2697	GJA1	HP:0008404	Nail dystrophy
2697	GJA1	HP:0010705	4-5 finger syndactyly
2697	GJA1	HP:0002298	Absent hair
2697	GJA1	HP:0002299	Brittle hair
2697	GJA1	HP:0010628	Facial palsy
2697	GJA1	HP:0001058	Poor wound healing
2697	GJA1	HP:0002385	Paraparesis
2697	GJA1	HP:0001034	Hypermelanotic macule
2697	GJA1	HP:0001041	Facial erythema
2697	GJA1	HP:0002313	Spastic paraparesis
2697	GJA1	HP:0025092	Epidermal acanthosis
2697	GJA1	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
2697	GJA1	HP:0009804	Tooth agenesis
2697	GJA1	HP:0009800	Maternal diabetes
2697	GJA1	HP:0200055	Small hand
2697	GJA1	HP:0008499	High hypermetropia
2697	GJA1	HP:0010783	Erythema
2697	GJA1	HP:0032152	Keratosis pilaris
2697	GJA1	HP:0010761	Broad columella
2697	GJA1	HP:0008442	Vertebral hyperostosis
2697	GJA1	HP:0009772	Patchy sclerosis of finger phalanx
2697	GJA1	HP:0009779	3-4 toe syndactyly
2697	GJA1	HP:0009765	Low hanging columella
2697	GJA1	HP:0004209	Clinodactyly of the 5th finger
2697	GJA1	HP:0006801	Hyperactive deep tendon reflexes
2697	GJA1	HP:0005588	Patchy palmoplantar hyperkeratosis
2697	GJA1	HP:0004220	Short middle phalanx of the 5th finger
2697	GJA1	HP:0000639	Nystagmus
2697	GJA1	HP:0000648	Optic atrophy
2697	GJA1	HP:0000613	Photophobia
2697	GJA1	HP:0001943	Hypoglycemia
2697	GJA1	HP:0000601	Hypotelorism
2697	GJA1	HP:0011359	Dry hair
2697	GJA1	HP:0000696	Delayed eruption of permanent teeth
2697	GJA1	HP:0000682	Abnormal dental enamel morphology
2697	GJA1	HP:0000684	Delayed eruption of teeth
2697	GJA1	HP:0011342	Mild global developmental delay
2697	GJA1	HP:0000679	Taurodontia
2697	GJA1	HP:0000678	Dental crowding
2697	GJA1	HP:0000675	Macrodontia of permanent maxillary central incisor
2697	GJA1	HP:0000691	Microdontia
2697	GJA1	HP:0000689	Dental malocclusion
2697	GJA1	HP:0000685	Hypoplasia of teeth
2697	GJA1	HP:0000653	Sparse eyelashes
2697	GJA1	HP:0000670	Carious teeth
2697	GJA1	HP:0004322	Short stature
2697	GJA1	HP:0005622	Broad long bones
2697	GJA1	HP:0030680	Abnormality of cardiovascular system morphology
2697	GJA1	HP:0004383	Hypoplastic left heart
2697	GJA1	HP:0003067	Madelung deformity
2697	GJA1	HP:0003015	Flared metaphysis
2697	GJA1	HP:0012745	Short palpebral fissure
2697	GJA1	HP:0012733	Macule
2697	GJA1	HP:0100018	Nuclear cataract
2697	GJA1	HP:0000765	Abnormal thorax morphology
2697	GJA1	HP:0009183	Joint contracture of the 5th finger
2697	GJA1	HP:0009162	Absent middle phalanx of 5th finger
2697	GJA1	HP:0012785	Flexion contracture of finger
2697	GJA1	HP:0010109	Short hallux
2697	GJA1	HP:0005769	Fifth finger distal phalanx clinodactyly
2697	GJA1	HP:0004437	Cranial hyperostosis
2697	GJA1	HP:0005768	2-4 toe cutaneous syndactyly
2697	GJA1	HP:0003103	Abnormal cortical bone morphology
2697	GJA1	HP:0004407	Bony paranasal bossing
2697	GJA1	HP:0003196	Short nose
2697	GJA1	HP:0003189	Long nose
2697	GJA1	HP:0004493	Craniofacial hyperostosis
2697	GJA1	HP:0000889	Abnormal clavicle morphology
2697	GJA1	HP:0100335	Non-midline cleft lip
2697	GJA1	HP:0000819	Diabetes mellitus
2697	GJA1	HP:0000822	Hypertension
2697	GJA1	HP:0011560	Mitral atresia
2697	GJA1	HP:0009237	Short 5th finger
2697	GJA1	HP:0004528	Generalized hypotrichosis
2697	GJA1	HP:0045075	Sparse eyebrow
2697	GJA1	HP:0100255	Metaphyseal dysplasia
2697	GJA1	HP:0000992	Cutaneous photosensitivity
2697	GJA1	HP:0011622	Inlet ventricular septal defect
2697	GJA1	HP:0000988	Skin rash
2697	GJA1	HP:0000982	Palmoplantar keratoderma
2697	GJA1	HP:0000958	Dry skin
2697	GJA1	HP:0000953	Hyperpigmentation of the skin
2697	GJA1	HP:0000961	Cyanosis
2697	GJA1	HP:0000962	Hyperkeratosis
2697	GJA1	HP:0000944	Abnormal metaphysis morphology
2697	GJA1	HP:0000940	Abnormal diaphysis morphology
2697	GJA1	HP:0008070	Sparse hair
2697	GJA1	HP:0008066	Abnormal blistering of the skin
2697	GJA1	HP:0008069	Neoplasm of the skin
2697	GJA1	HP:0040189	Scaling skin
2697	GJA1	HP:0011675	Arrhythmia
2697	GJA1	HP:0000286	Epicanthus
2697	GJA1	HP:0000280	Coarse facial features
2697	GJA1	HP:0001595	Abnormal hair morphology
2697	GJA1	HP:0001597	Abnormality of the nail
2697	GJA1	HP:0001596	Alopecia
2697	GJA1	HP:0001592	Selective tooth agenesis
2697	GJA1	HP:0000256	Macrocephaly
2697	GJA1	HP:0002827	Hip dislocation
2697	GJA1	HP:0030084	Clinodactyly
2697	GJA1	HP:0006384	Club-shaped distal femur
2697	GJA1	HP:0000239	Large fontanelles
2697	GJA1	HP:0000252	Microcephaly
2697	GJA1	HP:0000248	Brachycephaly
2697	GJA1	HP:0000218	High palate
2697	GJA1	HP:0000233	Thin vermilion border
2697	GJA1	HP:0001537	Umbilical hernia
2697	GJA1	HP:0000204	Cleft upper lip
2697	GJA1	HP:0001508	Failure to thrive
2697	GJA1	HP:0000377	Abnormal pinna morphology
2697	GJA1	HP:0002916	Abnormality of chromosome segregation
2697	GJA1	HP:0006480	Premature loss of teeth
2697	GJA1	HP:0006482	Abnormality of dental morphology
2697	GJA1	HP:0000365	Hearing impairment
2697	GJA1	HP:0000366	Abnormality of the nose
2697	GJA1	HP:0000369	Low-set ears
2697	GJA1	HP:0000343	Long philtrum
2697	GJA1	HP:0011002	Osteopetrosis
2697	GJA1	HP:0001680	Coarctation of aorta
2697	GJA1	HP:0000348	High forehead
2697	GJA1	HP:0000347	Micrognathia
2697	GJA1	HP:0001650	Aortic valve stenosis
2697	GJA1	HP:0012304	Hypoplastic aortic arch
2697	GJA1	HP:0000316	Hypertelorism
2697	GJA1	HP:0001643	Patent ductus arteriosus
2697	GJA1	HP:0000327	Hypoplasia of the maxilla
2697	GJA1	HP:0001629	Ventricular septal defect
2697	GJA1	HP:0001635	Congestive heart failure
2697	GJA1	HP:0002967	Cubitus valgus
2697	GJA1	HP:0001631	Atrial septal defect
2697	GJA1	HP:0000303	Mandibular prognathia
2697	GJA1	HP:0007957	Corneal opacity
2697	GJA1	HP:0006695	Atrioventricular canal defect
2697	GJA1	HP:0001739	Abnormal nasopharynx morphology
2697	GJA1	HP:0000407	Sensorineural hearing impairment
2697	GJA1	HP:0000405	Conductive hearing impairment
2697	GJA1	HP:0001718	Mitral stenosis
2697	GJA1	HP:0005280	Depressed nasal bridge
2697	GJA1	HP:0000486	Strabismus
2697	GJA1	HP:0000482	Microcornea
2697	GJA1	HP:0000478	Abnormality of the eye
2697	GJA1	HP:0000494	Downslanted palpebral fissures
2697	GJA1	HP:0000490	Deeply set eye
2697	GJA1	HP:0000463	Anteverted nares
2697	GJA1	HP:0000460	Narrow nose
2697	GJA1	HP:0001770	Toe syndactyly
2697	GJA1	HP:0001773	Short foot
2697	GJA1	HP:0000446	Narrow nasal bridge
2697	GJA1	HP:0001742	Nasal congestion
2697	GJA1	HP:0000411	Protruding ear
2697	GJA1	HP:0000410	Mixed hearing impairment
2697	GJA1	HP:0000431	Wide nasal bridge
2697	GJA1	HP:0000430	Underdeveloped nasal alae
2697	GJA1	HP:0005465	Facial hyperostosis
2697	GJA1	HP:0000518	Cataract
2697	GJA1	HP:0000525	Abnormality iris morphology
2697	GJA1	HP:0001824	Weight loss
2697	GJA1	HP:0001820	Leukonychia
2697	GJA1	HP:0000506	Telecanthus
2697	GJA1	HP:0000505	Visual impairment
2697	GJA1	HP:0000504	Abnormality of vision
2697	GJA1	HP:0000501	Glaucoma
2697	GJA1	HP:0001831	Short toe
2697	GJA1	HP:0001808	Fragile nails
2697	GJA1	HP:0001807	Ridged nail
2697	GJA1	HP:0031665	Midsystolic murmur
2697	GJA1	HP:0000598	Abnormality of the ear
2697	GJA1	HP:0000582	Upslanted palpebral fissure
2697	GJA1	HP:0000581	Blepharophimosis
2697	GJA1	HP:0000554	Uveitis
2697	GJA1	HP:0000568	Microphthalmia
2697	GJA1	HP:0000545	Myopia
2700	GJA3	HP:0010920	Zonular cataract
2700	GJA3	HP:0000006	Autosomal dominant inheritance
2702	GJA5	HP:0001156	Brachydactyly
2702	GJA5	HP:0009942	Duplication of thumb phalanx
2702	GJA5	HP:0009921	Duane anomaly
2702	GJA5	HP:0020206	Simple ear
2702	GJA5	HP:0009891	Underdeveloped supraorbital ridges
2702	GJA5	HP:0009882	Short distal phalanx of finger
2702	GJA5	HP:0003745	Sporadic
2702	GJA5	HP:0001250	Seizure
2702	GJA5	HP:0001252	Hypotonia
2702	GJA5	HP:0001249	Intellectual disability
2702	GJA5	HP:0001263	Global developmental delay
2702	GJA5	HP:0001212	Prominent fingertip pads
2702	GJA5	HP:0002553	Highly arched eyebrow
2702	GJA5	HP:0003829	Typified by incomplete penetrance
2702	GJA5	HP:0001388	Joint laxity
2702	GJA5	HP:0001382	Joint hypermobility
2702	GJA5	HP:0025313	Exophoria
2702	GJA5	HP:0000028	Cryptorchidism
2702	GJA5	HP:0001337	Tremor
2702	GJA5	HP:0000006	Autosomal dominant inheritance
2702	GJA5	HP:0002650	Scoliosis
2702	GJA5	HP:0025493	Palmoplantar erythema
2702	GJA5	HP:0000179	Thick lower lip vermilion
2702	GJA5	HP:0025478	Atrial standstill
2702	GJA5	HP:0000193	Bifid uvula
2702	GJA5	HP:0008936	Axial hypotonia
2702	GJA5	HP:0002007	Frontal bossing
2702	GJA5	HP:0002069	Bilateral tonic-clonic seizure
2702	GJA5	HP:0011705	First degree atrioventricular block
2702	GJA5	HP:0002121	Generalized non-motor (absence) seizure
2702	GJA5	HP:0004757	Paroxysmal atrial fibrillation
2702	GJA5	HP:0003596	Middle age onset
2702	GJA5	HP:0100716	Self-injurious behavior
2702	GJA5	HP:0200127	Atrial cardiomyopathy
2702	GJA5	HP:0002292	Frontal balding
2702	GJA5	HP:0100753	Schizophrenia
2702	GJA5	HP:0020045	Esodeviation
2702	GJA5	HP:0010698	Nuclear pulverulent cataract
2702	GJA5	HP:0010695	Sutural cataract
2702	GJA5	HP:0009765	Low hanging columella
2702	GJA5	HP:0004970	Ascending tubular aorta aneurysm
2702	GJA5	HP:0004209	Clinodactyly of the 5th finger
2702	GJA5	HP:0001956	Truncal obesity
2702	GJA5	HP:0000601	Hypotelorism
2702	GJA5	HP:0010055	Broad hallux
2702	GJA5	HP:0012664	Reduced left ventricular ejection fraction
2702	GJA5	HP:0000691	Microdontia
2702	GJA5	HP:0000687	Widely spaced teeth
2702	GJA5	HP:0011304	Broad thumb
2702	GJA5	HP:0000664	Synophrys
2702	GJA5	HP:0012745	Short palpebral fissure
2702	GJA5	HP:0000767	Pectus excavatum
2702	GJA5	HP:0000750	Delayed speech and language development
2702	GJA5	HP:0000717	Autism
2702	GJA5	HP:0010112	Mesoaxial foot polydactyly
2702	GJA5	HP:0004467	Preauricular pit
2702	GJA5	HP:0040053	Long lower eyelashes
2702	GJA5	HP:0034308	Prolonged P wave
2702	GJA5	HP:0011623	Muscular ventricular septal defect
2702	GJA5	HP:0000954	Single transverse palmar crease
2702	GJA5	HP:0011682	Perimembranous ventricular septal defect
2702	GJA5	HP:0000286	Epicanthus
2702	GJA5	HP:0000262	Turricephaly
2702	GJA5	HP:0000272	Malar flattening
2702	GJA5	HP:0000268	Dolichocephaly
2702	GJA5	HP:0000269	Prominent occiput
2702	GJA5	HP:0005110	Atrial fibrillation
2702	GJA5	HP:0005105	Abnormal nasal morphology
2702	GJA5	HP:0000252	Microcephaly
2702	GJA5	HP:0000248	Brachycephaly
2702	GJA5	HP:0000219	Thin upper lip vermilion
2702	GJA5	HP:0000218	High palate
2702	GJA5	HP:0000233	Thin vermilion border
2702	GJA5	HP:0001508	Failure to thrive
2702	GJA5	HP:0001511	Intrauterine growth retardation
2702	GJA5	HP:0012385	Camptodactyly
2702	GJA5	HP:0005155	Ventricular escape rhythm
2702	GJA5	HP:0000369	Low-set ears
2702	GJA5	HP:0000343	Long philtrum
2702	GJA5	HP:0001669	Transposition of the great arteries
2702	GJA5	HP:0000337	Broad forehead
2702	GJA5	HP:0001680	Coarctation of aorta
2702	GJA5	HP:0000347	Micrognathia
2702	GJA5	HP:0000319	Smooth philtrum
2702	GJA5	HP:0001647	Bicuspid aortic valve
2702	GJA5	HP:0000316	Hypertelorism
2702	GJA5	HP:0001643	Patent ductus arteriosus
2702	GJA5	HP:0000311	Round face
2702	GJA5	HP:0001660	Truncus arteriosus
2702	GJA5	HP:0001659	Aortic regurgitation
2702	GJA5	HP:0000325	Triangular face
2702	GJA5	HP:0001636	Tetralogy of Fallot
2702	GJA5	HP:0000307	Pointed chin
2702	GJA5	HP:0001631	Atrial septal defect
2702	GJA5	HP:0000303	Mandibular prognathia
2702	GJA5	HP:0006699	Premature atrial contractions
2702	GJA5	HP:0006677	Prolonged QRS complex
2702	GJA5	HP:0000407	Sensorineural hearing impairment
2702	GJA5	HP:0001706	Endocardial fibroelastosis
2702	GJA5	HP:0005280	Depressed nasal bridge
2702	GJA5	HP:0000486	Strabismus
2702	GJA5	HP:0000490	Deeply set eye
2702	GJA5	HP:0000463	Anteverted nares
2702	GJA5	HP:0000470	Short neck
2702	GJA5	HP:0001763	Pes planus
2702	GJA5	HP:0000448	Prominent nose
2702	GJA5	HP:0000414	Bulbous nose
2702	GJA5	HP:0000411	Protruding ear
2702	GJA5	HP:0000426	Prominent nasal bridge
2702	GJA5	HP:0005487	Prominent metopic ridge
2702	GJA5	HP:0000518	Cataract
2702	GJA5	HP:0001845	Overlapping toe
2702	GJA5	HP:0000520	Proptosis
2702	GJA5	HP:0000582	Upslanted palpebral fissure
2702	GJA5	HP:0011220	Prominent forehead
2702	GJA5	HP:0000568	Microphthalmia
2702	GJA5	HP:0000540	Hypermetropia
2702	GJA5	HP:0001883	Talipes
2703	GJA8	HP:0001156	Brachydactyly
2703	GJA8	HP:0001131	Corneal dystrophy
2703	GJA8	HP:0009942	Duplication of thumb phalanx
2703	GJA8	HP:0009921	Duane anomaly
2703	GJA8	HP:0020206	Simple ear
2703	GJA8	HP:0009882	Short distal phalanx of finger
2703	GJA8	HP:0003745	Sporadic
2703	GJA8	HP:0001250	Seizure
2703	GJA8	HP:0001252	Hypotonia
2703	GJA8	HP:0001249	Intellectual disability
2703	GJA8	HP:0001263	Global developmental delay
2703	GJA8	HP:0001212	Prominent fingertip pads
2703	GJA8	HP:0002553	Highly arched eyebrow
2703	GJA8	HP:0003829	Typified by incomplete penetrance
2703	GJA8	HP:0001388	Joint laxity
2703	GJA8	HP:0001382	Joint hypermobility
2703	GJA8	HP:0025313	Exophoria
2703	GJA8	HP:0001337	Tremor
2703	GJA8	HP:0000006	Autosomal dominant inheritance
2703	GJA8	HP:0002650	Scoliosis
2703	GJA8	HP:0025493	Palmoplantar erythema
2703	GJA8	HP:0000179	Thick lower lip vermilion
2703	GJA8	HP:0000193	Bifid uvula
2703	GJA8	HP:0008936	Axial hypotonia
2703	GJA8	HP:0002007	Frontal bossing
2703	GJA8	HP:0002069	Bilateral tonic-clonic seizure
2703	GJA8	HP:0002121	Generalized non-motor (absence) seizure
2703	GJA8	HP:0003577	Congenital onset
2703	GJA8	HP:0100716	Self-injurious behavior
2703	GJA8	HP:0002292	Frontal balding
2703	GJA8	HP:0100753	Schizophrenia
2703	GJA8	HP:0010693	Pulverulent cataract
2703	GJA8	HP:0020045	Esodeviation
2703	GJA8	HP:0010698	Nuclear pulverulent cataract
2703	GJA8	HP:0010695	Sutural cataract
2703	GJA8	HP:0009765	Low hanging columella
2703	GJA8	HP:0004970	Ascending tubular aorta aneurysm
2703	GJA8	HP:0004209	Clinodactyly of the 5th finger
2703	GJA8	HP:0000639	Nystagmus
2703	GJA8	HP:0000612	Iris coloboma
2703	GJA8	HP:0001956	Truncal obesity
2703	GJA8	HP:0000601	Hypotelorism
2703	GJA8	HP:0010055	Broad hallux
2703	GJA8	HP:0000691	Microdontia
2703	GJA8	HP:0000687	Widely spaced teeth
2703	GJA8	HP:0011304	Broad thumb
2703	GJA8	HP:0000664	Synophrys
2703	GJA8	HP:0012745	Short palpebral fissure
2703	GJA8	HP:0100018	Nuclear cataract
2703	GJA8	HP:0000767	Pectus excavatum
2703	GJA8	HP:0000750	Delayed speech and language development
2703	GJA8	HP:0000717	Autism
2703	GJA8	HP:0010112	Mesoaxial foot polydactyly
2703	GJA8	HP:0040053	Long lower eyelashes
2703	GJA8	HP:0011623	Muscular ventricular septal defect
2703	GJA8	HP:0000954	Single transverse palmar crease
2703	GJA8	HP:0011682	Perimembranous ventricular septal defect
2703	GJA8	HP:0000286	Epicanthus
2703	GJA8	HP:0000262	Turricephaly
2703	GJA8	HP:0000272	Malar flattening
2703	GJA8	HP:0000269	Prominent occiput
2703	GJA8	HP:0007787	Posterior subcapsular cataract
2703	GJA8	HP:0000252	Microcephaly
2703	GJA8	HP:0000248	Brachycephaly
2703	GJA8	HP:0000219	Thin upper lip vermilion
2703	GJA8	HP:0000218	High palate
2703	GJA8	HP:0000233	Thin vermilion border
2703	GJA8	HP:0001508	Failure to thrive
2703	GJA8	HP:0012385	Camptodactyly
2703	GJA8	HP:0000369	Low-set ears
2703	GJA8	HP:0000343	Long philtrum
2703	GJA8	HP:0001669	Transposition of the great arteries
2703	GJA8	HP:0001680	Coarctation of aorta
2703	GJA8	HP:0000347	Micrognathia
2703	GJA8	HP:0000319	Smooth philtrum
2703	GJA8	HP:0001647	Bicuspid aortic valve
2703	GJA8	HP:0000316	Hypertelorism
2703	GJA8	HP:0001643	Patent ductus arteriosus
2703	GJA8	HP:0000311	Round face
2703	GJA8	HP:0001660	Truncus arteriosus
2703	GJA8	HP:0001659	Aortic regurgitation
2703	GJA8	HP:0000325	Triangular face
2703	GJA8	HP:0000307	Pointed chin
2703	GJA8	HP:0001631	Atrial septal defect
2703	GJA8	HP:0000303	Mandibular prognathia
2703	GJA8	HP:0007957	Corneal opacity
2703	GJA8	HP:0000407	Sensorineural hearing impairment
2703	GJA8	HP:0005280	Depressed nasal bridge
2703	GJA8	HP:0000486	Strabismus
2703	GJA8	HP:0000482	Microcornea
2703	GJA8	HP:0000490	Deeply set eye
2703	GJA8	HP:0000463	Anteverted nares
2703	GJA8	HP:0000470	Short neck
2703	GJA8	HP:0001763	Pes planus
2703	GJA8	HP:0000448	Prominent nose
2703	GJA8	HP:0000414	Bulbous nose
2703	GJA8	HP:0000411	Protruding ear
2703	GJA8	HP:0000426	Prominent nasal bridge
2703	GJA8	HP:0005487	Prominent metopic ridge
2703	GJA8	HP:0000518	Cataract
2703	GJA8	HP:0001845	Overlapping toe
2703	GJA8	HP:0000582	Upslanted palpebral fissure
2703	GJA8	HP:0011220	Prominent forehead
2703	GJA8	HP:0000568	Microphthalmia
2703	GJA8	HP:0000540	Hypermetropia
2703	GJA8	HP:0001883	Talipes
2703	GJA8	HP:0000545	Myopia
2705	GJB1	HP:0001152	Saccadic smooth pursuit
2705	GJB1	HP:0002463	Language impairment
2705	GJB1	HP:0002464	Spastic dysarthria
2705	GJB1	HP:0002460	Distal muscle weakness
2705	GJB1	HP:0007328	Impaired pain sensation
2705	GJB1	HP:0007240	Progressive gait ataxia
2705	GJB1	HP:0002427	Expressive aphasia
2705	GJB1	HP:0001272	Cerebellar atrophy
2705	GJB1	HP:0001270	Motor delay
2705	GJB1	HP:0001288	Gait disturbance
2705	GJB1	HP:0001284	Areflexia
2705	GJB1	HP:0001251	Ataxia
2705	GJB1	HP:0001265	Hyporeflexia
2705	GJB1	HP:0001260	Dysarthria
2705	GJB1	HP:0001262	Excessive daytime somnolence
2705	GJB1	HP:0003829	Typified by incomplete penetrance
2705	GJB1	HP:0002503	Spinocerebellar tract degeneration
2705	GJB1	HP:0002500	Abnormal cerebral white matter morphology
2705	GJB1	HP:0001347	Hyperreflexia
2705	GJB1	HP:0001337	Tremor
2705	GJB1	HP:0001310	Dysmetria
2705	GJB1	HP:0002650	Scoliosis
2705	GJB1	HP:0008944	Distal lower limb amyotrophy
2705	GJB1	HP:0001423	X-linked dominant inheritance
2705	GJB1	HP:0002015	Dysphagia
2705	GJB1	HP:0002080	Intention tremor
2705	GJB1	HP:0002075	Dysdiadochokinesis
2705	GJB1	HP:0002073	Progressive cerebellar ataxia
2705	GJB1	HP:0002070	Limb ataxia
2705	GJB1	HP:0003383	Onion bulb formation
2705	GJB1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
2705	GJB1	HP:0003487	Babinski sign
2705	GJB1	HP:0003447	Axonal loss
2705	GJB1	HP:0003431	Decreased motor nerve conduction velocity
2705	GJB1	HP:0003445	EMG: neuropathic changes
2705	GJB1	HP:0003438	Absent Achilles reflex
2705	GJB1	HP:0200101	Decreased/absent ankle reflexes
2705	GJB1	HP:0002385	Paraparesis
2705	GJB1	HP:0002395	Lower limb hyperreflexia
2705	GJB1	HP:0002359	Frequent falls
2705	GJB1	HP:0002378	Hand tremor
2705	GJB1	HP:0002355	Difficulty walking
2705	GJB1	HP:0003677	Slowly progressive
2705	GJB1	HP:0002317	Unsteady gait
2705	GJB1	HP:0009830	Peripheral neuropathy
2705	GJB1	HP:0007141	Sensorimotor neuropathy
2705	GJB1	HP:0007149	Distal upper limb amyotrophy
2705	GJB1	HP:0002311	Incoordination
2705	GJB1	HP:0002312	Clumsiness
2705	GJB1	HP:0006855	Cerebellar vermis atrophy
2705	GJB1	HP:0000639	Nystagmus
2705	GJB1	HP:0009053	Distal lower limb muscle weakness
2705	GJB1	HP:0009027	Foot dorsiflexor weakness
2705	GJB1	HP:0000763	Sensory neuropathy
2705	GJB1	HP:0000764	Peripheral axonal degeneration
2705	GJB1	HP:0040129	Abnormal nerve conduction velocity
2705	GJB1	HP:0040078	Axonal degeneration
2705	GJB1	HP:0002808	Kyphosis
2705	GJB1	HP:0030051	Tip-toe gait
2705	GJB1	HP:0002936	Distal sensory impairment
2705	GJB1	HP:0000365	Hearing impairment
2705	GJB1	HP:0000407	Sensorineural hearing impairment
2705	GJB1	HP:0030237	Hand muscle weakness
2705	GJB1	HP:0001771	Achilles tendon contracture
2705	GJB1	HP:0001761	Pes cavus
2706	GJB2	HP:0001128	Trichiasis
2706	GJB2	HP:0003765	Psoriasiform dermatitis
2706	GJB2	HP:0008625	Severe sensorineural hearing impairment
2706	GJB2	HP:0100806	Sepsis
2706	GJB2	HP:0100838	Recurrent cutaneous abscess formation
2706	GJB2	HP:0002555	Absent pubic hair
2706	GJB2	HP:0007431	Congenital ichthyosiform erythroderma
2706	GJB2	HP:0010984	Digenic inheritance
2706	GJB2	HP:0000044	Hypogonadotropic hypogonadism
2706	GJB2	HP:0001369	Arthritis
2706	GJB2	HP:0008897	Postnatal growth retardation
2706	GJB2	HP:0007502	Follicular hyperkeratosis
2706	GJB2	HP:0007460	Autoamputation of digits
2706	GJB2	HP:0007465	Honeycomb palmoplantar hyperkeratosis
2706	GJB2	HP:0008788	Delayed pubic bone ossification
2706	GJB2	HP:0002673	Coxa valga
2706	GJB2	HP:0000007	Autosomal recessive inheritance
2706	GJB2	HP:0000006	Autosomal dominant inheritance
2706	GJB2	HP:0001305	Dandy-Walker malformation
2706	GJB2	HP:0001320	Cerebellar vermis hypoplasia
2706	GJB2	HP:0000164	Abnormality of the dentition
2706	GJB2	HP:0000175	Cleft palate
2706	GJB2	HP:0002797	Osteolysis
2706	GJB2	HP:0031288	Cobblestone-like hyperkeratosis
2706	GJB2	HP:0032541	Knuckle pad
2706	GJB2	HP:0001419	X-linked recessive inheritance
2706	GJB2	HP:0002745	Oral leukoplakia
2706	GJB2	HP:0031250	Lip fissure
2706	GJB2	HP:0100543	Cognitive impairment
2706	GJB2	HP:0008138	Equinus calcaneus
2706	GJB2	HP:0002143	Abnormal spinal cord morphology
2706	GJB2	HP:0002164	Nail dysplasia
2706	GJB2	HP:0011859	Punctate keratitis
2706	GJB2	HP:0003593	Infantile onset
2706	GJB2	HP:0003577	Congenital onset
2706	GJB2	HP:0100716	Self-injurious behavior
2706	GJB2	HP:0002221	Absent axillary hair
2706	GJB2	HP:0002209	Sparse scalp hair
2706	GJB2	HP:0008404	Nail dystrophy
2706	GJB2	HP:0008388	Abnormal toenail morphology
2706	GJB2	HP:0001019	Erythroderma
2706	GJB2	HP:0100648	Neoplasm of the tongue
2706	GJB2	HP:0200020	Corneal erosion
2706	GJB2	HP:0025092	Epidermal acanthosis
2706	GJB2	HP:0200036	Skin nodule
2706	GJB2	HP:0200035	Skin plaque
2706	GJB2	HP:0200034	Papule
2706	GJB2	HP:0008527	Congenital sensorineural hearing impairment
2706	GJB2	HP:0025084	Folliculitis
2706	GJB2	HP:0009830	Peripheral neuropathy
2706	GJB2	HP:0001097	Keratoconjunctivitis sicca
2706	GJB2	HP:0009775	Amniotic constriction ring
2706	GJB2	HP:0003623	Neonatal onset
2706	GJB2	HP:0032107	Limbal stem cell deficiency
2706	GJB2	HP:0000618	Blindness
2706	GJB2	HP:0000613	Photophobia
2706	GJB2	HP:0011370	Recurrent cutaneous fungal infections
2706	GJB2	HP:0000691	Microdontia
2706	GJB2	HP:0000653	Sparse eyelashes
2706	GJB2	HP:0001999	Abnormal facial shape
2706	GJB2	HP:0003065	Patellar hypoplasia
2706	GJB2	HP:0011496	Corneal neovascularization
2706	GJB2	HP:0011463	Childhood onset
2706	GJB2	HP:0012758	Neurodevelopmental delay
2706	GJB2	HP:0004458	Dilatated internal auditory canal
2706	GJB2	HP:0012844	Trichilemmoma
2706	GJB2	HP:0012804	Corneal ulceration
2706	GJB2	HP:0004552	Scarring alopecia of scalp
2706	GJB2	HP:0045059	Hyperkeratotic papule
2706	GJB2	HP:0045075	Sparse eyebrow
2706	GJB2	HP:0030839	Knee pain
2706	GJB2	HP:0000972	Palmoplantar hyperkeratosis
2706	GJB2	HP:0000982	Palmoplantar keratoderma
2706	GJB2	HP:0000966	Hypohidrosis
2706	GJB2	HP:0000962	Hyperkeratosis
2706	GJB2	HP:0008070	Sparse hair
2706	GJB2	HP:0040154	Acne inversa
2706	GJB2	HP:0008064	Ichthyosis
2706	GJB2	HP:0008069	Neoplasm of the skin
2706	GJB2	HP:0040189	Scaling skin
2706	GJB2	HP:0008038	Aplastic/hypoplastic lacrimal glands
2706	GJB2	HP:0001597	Abnormality of the nail
2706	GJB2	HP:0001596	Alopecia
2706	GJB2	HP:0006380	Knee flexion contracture
2706	GJB2	HP:0001581	Recurrent skin infections
2706	GJB2	HP:0000221	Furrowed tongue
2706	GJB2	HP:0000230	Gingivitis
2706	GJB2	HP:0002860	Squamous cell carcinoma
2706	GJB2	HP:0001508	Failure to thrive
2706	GJB2	HP:0000399	Prelingual sensorineural hearing impairment
2706	GJB2	HP:0000381	Stapes ankylosis
2706	GJB2	HP:0000365	Hearing impairment
2706	GJB2	HP:0025610	Posterior blepharitis
2706	GJB2	HP:0002987	Elbow flexion contracture
2706	GJB2	HP:0030318	Angular cheilitis
2706	GJB2	HP:0005328	Progeroid facial appearance
2706	GJB2	HP:0000408	Progressive sensorineural hearing impairment
2706	GJB2	HP:0000407	Sensorineural hearing impairment
2706	GJB2	HP:0000405	Conductive hearing impairment
2706	GJB2	HP:0000495	Recurrent corneal erosions
2706	GJB2	HP:0000491	Keratitis
2706	GJB2	HP:0001751	Abnormal vestibular function
2706	GJB2	HP:0000410	Mixed hearing impairment
2706	GJB2	HP:0001761	Pes cavus
2706	GJB2	HP:0005406	Recurrent bacterial skin infections
2706	GJB2	HP:0005401	Recurrent candida infections
2706	GJB2	HP:0001820	Leukonychia
2706	GJB2	HP:0000509	Conjunctivitis
2706	GJB2	HP:0001805	Onychogryposis
2706	GJB2	HP:0000561	Absent eyelashes
2706	GJB2	HP:0011220	Prominent forehead
2706	GJB2	HP:0000559	Corneal scarring
2706	GJB2	HP:0000572	Visual loss
2707	GJB3	HP:0001182	Tapered finger
2707	GJB3	HP:0001156	Brachydactyly
2707	GJB3	HP:0025114	Hypergranulosis
2707	GJB3	HP:0001249	Intellectual disability
2707	GJB3	HP:0007400	Irregular hyperpigmentation
2707	GJB3	HP:0010984	Digenic inheritance
2707	GJB3	HP:0000035	Abnormal testis morphology
2707	GJB3	HP:0000007	Autosomal recessive inheritance
2707	GJB3	HP:0000006	Autosomal dominant inheritance
2707	GJB3	HP:0003593	Infantile onset
2707	GJB3	HP:0002230	Generalized hirsutism
2707	GJB3	HP:0001034	Hypermelanotic macule
2707	GJB3	HP:0001019	Erythroderma
2707	GJB3	HP:0025092	Epidermal acanthosis
2707	GJB3	HP:0010783	Erythema
2707	GJB3	HP:0005595	Generalized hyperkeratosis
2707	GJB3	HP:0005588	Patchy palmoplantar hyperkeratosis
2707	GJB3	HP:0004322	Short stature
2707	GJB3	HP:0030680	Abnormality of cardiovascular system morphology
2707	GJB3	HP:0012733	Macule
2707	GJB3	HP:0000819	Diabetes mellitus
2707	GJB3	HP:0000992	Cutaneous photosensitivity
2707	GJB3	HP:0000988	Skin rash
2707	GJB3	HP:0000958	Dry skin
2707	GJB3	HP:0000962	Hyperkeratosis
2707	GJB3	HP:0008066	Abnormal blistering of the skin
2707	GJB3	HP:0008069	Neoplasm of the skin
2707	GJB3	HP:0001595	Abnormal hair morphology
2707	GJB3	HP:0001597	Abnormality of the nail
2707	GJB3	HP:0001596	Alopecia
2707	GJB3	HP:0005101	High-frequency hearing impairment
2707	GJB3	HP:0000252	Microcephaly
2707	GJB3	HP:0000365	Hearing impairment
2707	GJB3	HP:0007957	Corneal opacity
2707	GJB3	HP:0000407	Sensorineural hearing impairment
2707	GJB3	HP:0001751	Abnormal vestibular function
2707	GJB3	HP:0000411	Protruding ear
2707	GJB3	HP:0000518	Cataract
2707	GJB3	HP:0001824	Weight loss
2707	GJB3	HP:0000501	Glaucoma
2710	GK	HP:0001254	Lethargy
2710	GK	HP:0001250	Seizure
2710	GK	HP:0001249	Intellectual disability
2710	GK	HP:0001263	Global developmental delay
2710	GK	HP:0001259	Coma
2710	GK	HP:0002572	Episodic vomiting
2710	GK	HP:0000028	Cryptorchidism
2710	GK	HP:0002756	Pathologic fracture
2710	GK	HP:0001419	X-linked recessive inheritance
2710	GK	HP:0002714	Downturned corners of mouth
2710	GK	HP:0040301	Increased urinary glycerol
2710	GK	HP:0002007	Frontal bossing
2710	GK	HP:0008182	Adrenocortical hypoplasia
2710	GK	HP:0002155	Hypertriglyceridemia
2710	GK	HP:0003560	Muscular dystrophy
2710	GK	HP:0007185	Loss of consciousness
2710	GK	HP:0001943	Hypoglycemia
2710	GK	HP:0001942	Metabolic acidosis
2710	GK	HP:0001993	Ketoacidosis
2710	GK	HP:0001999	Abnormal facial shape
2710	GK	HP:0004322	Short stature
2710	GK	HP:0003198	Myopathy
2710	GK	HP:0000846	Adrenal insufficiency
2710	GK	HP:0000939	Osteoporosis
2710	GK	HP:0001518	Small for gestational age
2710	GK	HP:0001510	Growth delay
2710	GK	HP:0000369	Low-set ears
2710	GK	HP:0000316	Hypertelorism
2710	GK	HP:0000486	Strabismus
2717	GLA	HP:0001155	Abnormality of the hand
2717	GLA	HP:0001131	Corneal dystrophy
2717	GLA	HP:0033595	Elevated circulating globotriaosylceramide concentration
2717	GLA	HP:0100820	Glomerulopathy
2717	GLA	HP:0001250	Seizure
2717	GLA	HP:0002571	Achalasia
2717	GLA	HP:0000083	Renal insufficiency
2717	GLA	HP:0000091	Abnormal renal tubule morphology
2717	GLA	HP:0000093	Proteinuria
2717	GLA	HP:0001369	Arthritis
2717	GLA	HP:0000179	Thick lower lip vermilion
2717	GLA	HP:0001482	Subcutaneous nodule
2717	GLA	HP:0000100	Nephrotic syndrome
2717	GLA	HP:0000112	Nephropathy
2717	GLA	HP:0032567	Lipiduria
2717	GLA	HP:0032568	Urinary mulberry cells
2717	GLA	HP:0001419	X-linked recessive inheritance
2717	GLA	HP:0002024	Malabsorption
2717	GLA	HP:0002018	Nausea
2717	GLA	HP:0002017	Nausea and vomiting
2717	GLA	HP:0002027	Abdominal pain
2717	GLA	HP:0003326	Myalgia
2717	GLA	HP:0002014	Diarrhea
2717	GLA	HP:0002013	Vomiting
2717	GLA	HP:0100543	Cognitive impairment
2717	GLA	HP:0002097	Emphysema
2717	GLA	HP:0002094	Dyspnea
2717	GLA	HP:0002093	Respiratory insufficiency
2717	GLA	HP:0003394	Muscle spasm
2717	GLA	HP:0002039	Anorexia
2717	GLA	HP:0100585	Telangiectasia of the skin
2717	GLA	HP:0100579	Mucosal telangiectasiae
2717	GLA	HP:0011710	Bundle branch block
2717	GLA	HP:0003401	Paresthesia
2717	GLA	HP:0002380	Fasciculations
2717	GLA	HP:0002376	Developmental regression
2717	GLA	HP:0001014	Angiokeratoma
2717	GLA	HP:0001004	Lymphedema
2717	GLA	HP:0002321	Vertigo
2717	GLA	HP:0002326	Transient ischemic attack
2717	GLA	HP:0001071	Angiokeratoma corporis diffusum
2717	GLA	HP:0003621	Juvenile onset
2717	GLA	HP:0000648	Optic atrophy
2717	GLA	HP:0001945	Fever
2717	GLA	HP:0001903	Anemia
2717	GLA	HP:0004322	Short stature
2717	GLA	HP:0004306	Abnormal endocardium morphology
2717	GLA	HP:0003077	Hyperlipidemia
2717	GLA	HP:0004349	Reduced bone mineral density
2717	GLA	HP:0000739	Anxiety
2717	GLA	HP:0012702	Tenesmus
2717	GLA	HP:0000716	Depression
2717	GLA	HP:0000708	Atypical behavior
2717	GLA	HP:0000790	Hematuria
2717	GLA	HP:0003119	Abnormal circulating lipid concentration
2717	GLA	HP:0000873	Diabetes insipidus
2717	GLA	HP:0000822	Hypertension
2717	GLA	HP:0000823	Delayed puberty
2717	GLA	HP:0000966	Hypohidrosis
2717	GLA	HP:0000962	Hyperkeratosis
2717	GLA	HP:0011675	Arrhythmia
2717	GLA	HP:0000280	Coarse facial features
2717	GLA	HP:0005144	Ventricular septal hypertrophy
2717	GLA	HP:0002829	Arthralgia
2717	GLA	HP:0002823	Abnormality of femur morphology
2717	GLA	HP:0006510	Chronic pulmonary obstruction
2717	GLA	HP:0012378	Fatigue
2717	GLA	HP:0006536	Airway obstruction
2717	GLA	HP:0000365	Hearing impairment
2717	GLA	HP:0012332	Abnormal autonomic nervous system physiology
2717	GLA	HP:0001681	Angina pectoris
2717	GLA	HP:0001678	Atrioventricular block
2717	GLA	HP:0001646	Abnormal aortic valve morphology
2717	GLA	HP:0001658	Myocardial infarction
2717	GLA	HP:0001653	Mitral regurgitation
2717	GLA	HP:0001639	Hypertrophic cardiomyopathy
2717	GLA	HP:0001635	Congestive heart failure
2717	GLA	HP:0001637	Abnormal myocardium morphology
2717	GLA	HP:0007957	Corneal opacity
2717	GLA	HP:0000407	Sensorineural hearing impairment
2717	GLA	HP:0001712	Left ventricular hypertrophy
2717	GLA	HP:0000518	Cataract
2717	GLA	HP:0000524	Conjunctival telangiectasia
2719	GPC3	HP:0001169	Broad palm
2719	GPC3	HP:0001162	Postaxial hand polydactyly
2719	GPC3	HP:0009908	Anterior creases of earlobe
2719	GPC3	HP:0009882	Short distal phalanx of finger
2719	GPC3	HP:0001274	Agenesis of corpus callosum
2719	GPC3	HP:0001270	Motor delay
2719	GPC3	HP:0001250	Seizure
2719	GPC3	HP:0001252	Hypotonia
2719	GPC3	HP:0001249	Intellectual disability
2719	GPC3	HP:0001263	Global developmental delay
2719	GPC3	HP:0001233	2-3 finger syndactyly
2719	GPC3	HP:0002558	Supernumerary nipple
2719	GPC3	HP:0002566	Intestinal malrotation
2719	GPC3	HP:0006101	Finger syndactyly
2719	GPC3	HP:0008736	Hypoplasia of penis
2719	GPC3	HP:0000098	Tall stature
2719	GPC3	HP:0000073	Ureteral duplication
2719	GPC3	HP:0000072	Hydroureter
2719	GPC3	HP:0001374	Congenital hip dislocation
2719	GPC3	HP:0000047	Hypospadias
2719	GPC3	HP:0000023	Inguinal hernia
2719	GPC3	HP:0000028	Cryptorchidism
2719	GPC3	HP:0006176	Two carpal ossification centers present at birth
2719	GPC3	HP:0002664	Neoplasm
2719	GPC3	HP:0002667	Nephroblastoma
2719	GPC3	HP:0000003	Multicystic kidney dysplasia
2719	GPC3	HP:0000006	Autosomal dominant inheritance
2719	GPC3	HP:0001305	Dandy-Walker malformation
2719	GPC3	HP:0001320	Cerebellar vermis hypoplasia
2719	GPC3	HP:0002650	Scoliosis
2719	GPC3	HP:0002643	Neonatal respiratory distress
2719	GPC3	HP:0000189	Narrow palate
2719	GPC3	HP:0000158	Macroglossia
2719	GPC3	HP:0000175	Cleft palate
2719	GPC3	HP:0000154	Wide mouth
2719	GPC3	HP:0002705	High, narrow palate
2719	GPC3	HP:0000126	Hydronephrosis
2719	GPC3	HP:0001428	Somatic mutation
2719	GPC3	HP:0000107	Renal cyst
2719	GPC3	HP:0000105	Enlarged kidney
2719	GPC3	HP:0001419	X-linked recessive inheritance
2719	GPC3	HP:0002716	Lymphadenopathy
2719	GPC3	HP:0002711	Exaggerated median tongue furrow
2719	GPC3	HP:0002023	Anal atresia
2719	GPC3	HP:0002027	Abdominal pain
2719	GPC3	HP:0100526	Neoplasm of the lung
2719	GPC3	HP:0003375	Narrow greater sciatic notch
2719	GPC3	HP:0011710	Bundle branch block
2719	GPC3	HP:0002101	Abnormal lung lobation
2719	GPC3	HP:0003422	Vertebral segmentation defect
2719	GPC3	HP:0002167	Abnormality of speech or vocalization
2719	GPC3	HP:0002164	Nail dysplasia
2719	GPC3	HP:0100490	Camptodactyly of finger
2719	GPC3	HP:0009536	Short 2nd finger
2719	GPC3	HP:0002245	Meckel diverticulum
2719	GPC3	HP:0002240	Hepatomegaly
2719	GPC3	HP:0008416	Six lumbar vertebrae
2719	GPC3	HP:0003517	Birth length greater than 97th percentile
2719	GPC3	HP:0008523	Posterior helix pit
2719	GPC3	HP:0004209	Clinodactyly of the 5th finger
2719	GPC3	HP:0004279	Short palm
2719	GPC3	HP:0005580	Duplication of renal pelvis
2719	GPC3	HP:0001943	Hypoglycemia
2719	GPC3	HP:0001945	Fever
2719	GPC3	HP:0011330	Metopic synostosis
2719	GPC3	HP:0000689	Dental malocclusion
2719	GPC3	HP:0011304	Broad thumb
2719	GPC3	HP:0005616	Accelerated skeletal maturation
2719	GPC3	HP:0030680	Abnormality of cardiovascular system morphology
2719	GPC3	HP:0003006	Neuroblastoma
2719	GPC3	HP:0009101	Submucous cleft lip
2719	GPC3	HP:0000772	Abnormal rib morphology
2719	GPC3	HP:0000767	Pectus excavatum
2719	GPC3	HP:0000768	Pectus carinatum
2719	GPC3	HP:0000750	Delayed speech and language development
2719	GPC3	HP:0000773	Short ribs
2719	GPC3	HP:0000776	Congenital diaphragmatic hernia
2719	GPC3	HP:0000790	Hematuria
2719	GPC3	HP:0003196	Short nose
2719	GPC3	HP:0003185	Short greater sciatic notch
2719	GPC3	HP:0004467	Preauricular pit
2719	GPC3	HP:0004464	Postauricular pit
2719	GPC3	HP:0000879	Short sternum
2719	GPC3	HP:0000891	Cervical ribs
2719	GPC3	HP:0000822	Hypertension
2719	GPC3	HP:0003212	Increased circulating IgE level
2719	GPC3	HP:0004510	Pancreatic islet-cell hyperplasia
2719	GPC3	HP:0000998	Hypertrichosis
2719	GPC3	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
2719	GPC3	HP:0100259	Postaxial polydactyly
2719	GPC3	HP:0009381	Short finger
2719	GPC3	HP:0011675	Arrhythmia
2719	GPC3	HP:0000286	Epicanthus
2719	GPC3	HP:0000280	Coarse facial features
2719	GPC3	HP:0000297	Facial hypotonia
2719	GPC3	HP:0000256	Macrocephaly
2719	GPC3	HP:0000243	Trigonocephaly
2719	GPC3	HP:0000238	Hydrocephalus
2719	GPC3	HP:0002898	Embryonal neoplasm
2719	GPC3	HP:0002896	Neoplasm of the liver
2719	GPC3	HP:0002884	Hepatoblastoma
2719	GPC3	HP:0001548	Overgrowth
2719	GPC3	HP:0000212	Gingival overgrowth
2719	GPC3	HP:0001561	Polyhydramnios
2719	GPC3	HP:0001522	Death in infancy
2719	GPC3	HP:0001540	Diastasis recti
2719	GPC3	HP:0002869	Flared iliac wing
2719	GPC3	HP:0001537	Umbilical hernia
2719	GPC3	HP:0001539	Omphalocele
2719	GPC3	HP:0000204	Cleft upper lip
2719	GPC3	HP:0000384	Preauricular skin tag
2719	GPC3	HP:0011039	Abnormal helix morphology
2719	GPC3	HP:0001609	Hoarse voice
2719	GPC3	HP:0001608	Abnormality of the voice
2719	GPC3	HP:0002948	Vertebral fusion
2719	GPC3	HP:0005160	Total anomalous pulmonary venous return
2719	GPC3	HP:0000365	Hearing impairment
2719	GPC3	HP:0000368	Low-set, posteriorly rotated ears
2719	GPC3	HP:0001669	Transposition of the great arteries
2719	GPC3	HP:0000337	Broad forehead
2719	GPC3	HP:0001667	Right ventricular hypertrophy
2719	GPC3	HP:0000316	Hypertelorism
2719	GPC3	HP:0001643	Patent ductus arteriosus
2719	GPC3	HP:0001642	Pulmonic stenosis
2719	GPC3	HP:0001657	Prolonged QT interval
2719	GPC3	HP:0001629	Ventricular septal defect
2719	GPC3	HP:0001638	Cardiomyopathy
2719	GPC3	HP:0001631	Atrial septal defect
2719	GPC3	HP:0000303	Mandibular prognathia
2719	GPC3	HP:0006610	Wide intermamillary distance
2719	GPC3	HP:0005280	Depressed nasal bridge
2719	GPC3	HP:0012471	Thick vermilion border
2719	GPC3	HP:0000494	Downslanted palpebral fissures
2719	GPC3	HP:0001792	Small nail
2719	GPC3	HP:0000463	Anteverted nares
2719	GPC3	HP:0000470	Short neck
2719	GPC3	HP:0000465	Webbed neck
2719	GPC3	HP:0001799	Short nail
2719	GPC3	HP:0001770	Toe syndactyly
2719	GPC3	HP:0001773	Short foot
2719	GPC3	HP:0001769	Broad foot
2719	GPC3	HP:0001748	Polysplenia
2719	GPC3	HP:0001744	Splenomegaly
2719	GPC3	HP:0001762	Talipes equinovarus
2719	GPC3	HP:0000431	Wide nasal bridge
2719	GPC3	HP:0000526	Aniridia
2719	GPC3	HP:0001824	Weight loss
2719	GPC3	HP:0001837	Broad toe
2719	GPC3	HP:0001831	Short toe
2720	GLB1	HP:0007313	Cerebral degeneration
2720	GLB1	HP:0007281	Developmental stagnation
2720	GLB1	HP:0007272	Progressive psychomotor deterioration
2720	GLB1	HP:0001290	Generalized hypotonia
2720	GLB1	HP:0001276	Hypertonia
2720	GLB1	HP:0001288	Gait disturbance
2720	GLB1	HP:0001256	Intellectual disability, mild
2720	GLB1	HP:0001250	Seizure
2720	GLB1	HP:0001252	Hypotonia
2720	GLB1	HP:0001251	Ataxia
2720	GLB1	HP:0001249	Intellectual disability
2720	GLB1	HP:0001260	Dysarthria
2720	GLB1	HP:0001263	Global developmental delay
2720	GLB1	HP:0001257	Spasticity
2720	GLB1	HP:0001230	Broad metacarpals
2720	GLB1	HP:0410346	Increased urinary galactosylated oligosaccharide
2720	GLB1	HP:0001223	Pointed proximal second through fifth metacarpals
2720	GLB1	HP:0002510	Spastic tetraplegia
2720	GLB1	HP:0002506	Diffuse cerebral atrophy
2720	GLB1	HP:0008807	Acetabular dysplasia
2720	GLB1	HP:0012070	Chondroitin sulfate excretion in urine
2720	GLB1	HP:0008812	Flattened femoral head
2720	GLB1	HP:0012069	Keratan sulfate excretion in urine
2720	GLB1	HP:0000079	Abnormality of the urinary system
2720	GLB1	HP:0001385	Hip dysplasia
2720	GLB1	HP:0001388	Joint laxity
2720	GLB1	HP:0001387	Joint stiffness
2720	GLB1	HP:0000023	Inguinal hernia
2720	GLB1	HP:0002684	Thickened calvaria
2720	GLB1	HP:0001350	Slurred speech
2720	GLB1	HP:0001347	Hyperreflexia
2720	GLB1	HP:0002690	Large sella turcica
2720	GLB1	HP:0001332	Dystonia
2720	GLB1	HP:0033725	Thin corpus callosum
2720	GLB1	HP:0002673	Coxa valga
2720	GLB1	HP:0000007	Autosomal recessive inheritance
2720	GLB1	HP:0001336	Myoclonus
2720	GLB1	HP:0002652	Skeletal dysplasia
2720	GLB1	HP:0002650	Scoliosis
2720	GLB1	HP:0000160	Narrow mouth
2720	GLB1	HP:0000158	Macroglossia
2720	GLB1	HP:0000154	Wide mouth
2720	GLB1	HP:0008947	Infantile muscular hypotonia
2720	GLB1	HP:0002788	Recurrent upper respiratory tract infections
2720	GLB1	HP:0002753	Thin bony cortex
2720	GLB1	HP:0001433	Hepatosplenomegaly
2720	GLB1	HP:0002015	Dysphagia
2720	GLB1	HP:0002007	Frontal bossing
2720	GLB1	HP:0003311	Hypoplasia of the odontoid process
2720	GLB1	HP:0003307	Hyperlordosis
2720	GLB1	HP:0003308	Cervical subluxation
2720	GLB1	HP:0003300	Ovoid vertebral bodies
2720	GLB1	HP:0002091	Restrictive ventilatory defect
2720	GLB1	HP:0002071	Abnormality of extrapyramidal motor function
2720	GLB1	HP:0002059	Cerebral atrophy
2720	GLB1	HP:0008166	Decreased beta-galactosidase activity
2720	GLB1	HP:0008155	Mucopolysacchariduria
2720	GLB1	HP:0002123	Generalized myoclonic seizure
2720	GLB1	HP:0002119	Ventriculomegaly
2720	GLB1	HP:0002267	Exaggerated startle response
2720	GLB1	HP:0003593	Infantile onset
2720	GLB1	HP:0002240	Hepatomegaly
2720	GLB1	HP:0003541	Urinary glycosaminoglycan excretion
2720	GLB1	HP:0010729	Cherry red spot of the macula
2720	GLB1	HP:0100767	Abnormal placenta morphology
2720	GLB1	HP:0011968	Feeding difficulties
2720	GLB1	HP:0011951	Aspiration pneumonia
2720	GLB1	HP:0003510	Severe short stature
2720	GLB1	HP:0003521	Disproportionate short-trunk short stature
2720	GLB1	HP:0025013	Decerebrate rigidity
2720	GLB1	HP:0002376	Developmental regression
2720	GLB1	HP:0001007	Hirsutism
2720	GLB1	HP:0003651	Foam cells
2720	GLB1	HP:0002318	Cervical myelopathy
2720	GLB1	HP:0007204	Diffuse white matter abnormalities
2720	GLB1	HP:0009826	Limb undergrowth
2720	GLB1	HP:0010808	Protruding tongue
2720	GLB1	HP:0001072	Thickened skin
2720	GLB1	HP:0001071	Angiokeratoma corporis diffusum
2720	GLB1	HP:0008479	Hypoplastic vertebral bodies
2720	GLB1	HP:0008430	Anterior beaking of lumbar vertebrae
2720	GLB1	HP:0003621	Juvenile onset
2720	GLB1	HP:0001982	Sea-blue histiocytosis
2720	GLB1	HP:0000648	Optic atrophy
2720	GLB1	HP:0000618	Blindness
2720	GLB1	HP:0001922	Vacuolated lymphocytes
2720	GLB1	HP:0000683	Grayish enamel
2720	GLB1	HP:0000687	Widely spaced teeth
2720	GLB1	HP:0000670	Carious teeth
2720	GLB1	HP:0001999	Abnormal facial shape
2720	GLB1	HP:0004322	Short stature
2720	GLB1	HP:0005619	Thoracolumbar kyphosis
2720	GLB1	HP:0003053	Epiphyseal deformities of tubular bones
2720	GLB1	HP:0003049	Ulnar deviation of the wrist
2720	GLB1	HP:0003016	Metaphyseal widening
2720	GLB1	HP:0003026	Short long bone
2720	GLB1	HP:0000768	Pectus carinatum
2720	GLB1	HP:0000750	Delayed speech and language development
2720	GLB1	HP:0000707	Abnormality of the nervous system
2720	GLB1	HP:0011463	Childhood onset
2720	GLB1	HP:0012753	T2 hypointense basal ganglia
2720	GLB1	HP:0000924	Abnormality of the skeletal system
2720	GLB1	HP:0000926	Platyspondyly
2720	GLB1	HP:0000904	Flaring of rib cage
2720	GLB1	HP:0000900	Thickened ribs
2720	GLB1	HP:0000884	Prominent sternum
2720	GLB1	HP:0003090	Hypoplasia of the capital femoral epiphysis
2720	GLB1	HP:0004562	Beaking of vertebral bodies T12-L3
2720	GLB1	HP:0004568	Beaking of vertebral bodies
2720	GLB1	HP:0003202	Skeletal muscle atrophy
2720	GLB1	HP:0003277	Constricted iliac wing
2720	GLB1	HP:0003274	Hypoplastic acetabulae
2720	GLB1	HP:0000998	Hypertrichosis
2720	GLB1	HP:0000939	Osteoporosis
2720	GLB1	HP:0033044	Motor regression
2720	GLB1	HP:0000943	Dysostosis multiplex
2720	GLB1	HP:0000280	Coarse facial features
2720	GLB1	HP:0007759	Opacification of the corneal stroma
2720	GLB1	HP:0002808	Kyphosis
2720	GLB1	HP:0006371	Broad long bone diaphyses
2720	GLB1	HP:0000212	Gingival overgrowth
2720	GLB1	HP:0002857	Genu valgum
2720	GLB1	HP:0001522	Death in infancy
2720	GLB1	HP:0002869	Flared iliac wing
2720	GLB1	HP:0001508	Failure to thrive
2720	GLB1	HP:0001511	Intrauterine growth retardation
2720	GLB1	HP:0012368	Flat face
2720	GLB1	HP:0000365	Hearing impairment
2720	GLB1	HP:0000369	Low-set ears
2720	GLB1	HP:0000343	Long philtrum
2720	GLB1	HP:0001650	Aortic valve stenosis
2720	GLB1	HP:0012307	Spatulate ribs
2720	GLB1	HP:0000316	Hypertelorism
2720	GLB1	HP:0001643	Patent ductus arteriosus
2720	GLB1	HP:0001644	Dilated cardiomyopathy
2720	GLB1	HP:0001654	Abnormal heart valve morphology
2720	GLB1	HP:0001653	Mitral regurgitation
2720	GLB1	HP:0001622	Premature birth
2720	GLB1	HP:0001639	Hypertrophic cardiomyopathy
2720	GLB1	HP:0001635	Congestive heart failure
2720	GLB1	HP:0001638	Cardiomyopathy
2720	GLB1	HP:0000303	Mandibular prognathia
2720	GLB1	HP:0007957	Corneal opacity
2720	GLB1	HP:0000400	Macrotia
2720	GLB1	HP:0005292	Intimal thickening in the coronary arteries
2720	GLB1	HP:0005280	Depressed nasal bridge
2720	GLB1	HP:0001789	Hydrops fetalis
2720	GLB1	HP:0000455	Broad nasal tip
2720	GLB1	HP:0000457	Depressed nasal ridge
2720	GLB1	HP:0000470	Short neck
2720	GLB1	HP:0001776	Bilateral talipes equinovarus
2720	GLB1	HP:0001744	Splenomegaly
2720	GLB1	HP:0001761	Pes cavus
2720	GLB1	HP:3000050	Abnormal odontoid tissue morphology
2729	GCLC	HP:0032261	Nontuberculous mycobacterial pulmonary infection
2729	GCLC	HP:0001271	Polyneuropathy
2729	GCLC	HP:0001251	Ataxia
2729	GCLC	HP:0001249	Intellectual disability
2729	GCLC	HP:0001260	Dysarthria
2729	GCLC	HP:0001263	Global developmental delay
2729	GCLC	HP:0002570	Steatorrhea
2729	GCLC	HP:0002503	Spinocerebellar tract degeneration
2729	GCLC	HP:0032342	Reduced forced expiratory volume in one second
2729	GCLC	HP:0001392	Abnormality of the liver
2729	GCLC	HP:0001394	Cirrhosis
2729	GCLC	HP:0001347	Hyperreflexia
2729	GCLC	HP:0000007	Autosomal recessive inheritance
2729	GCLC	HP:0001433	Hepatosplenomegaly
2729	GCLC	HP:0002726	Recurrent Staphylococcus aureus infections
2729	GCLC	HP:0002724	Recurrent Aspergillus infections
2729	GCLC	HP:0003355	Aminoaciduria
2729	GCLC	HP:0002024	Malabsorption
2729	GCLC	HP:0002020	Gastroesophageal reflux
2729	GCLC	HP:0002035	Rectal prolapse
2729	GCLC	HP:0002099	Asthma
2729	GCLC	HP:0100582	Nasal polyposis
2729	GCLC	HP:0002110	Bronchiectasis
2729	GCLC	HP:0002107	Pneumothorax
2729	GCLC	HP:0002105	Hemoptysis
2729	GCLC	HP:0010522	Dyslexia
2729	GCLC	HP:0002205	Recurrent respiratory infections
2729	GCLC	HP:0009830	Peripheral neuropathy
2729	GCLC	HP:0001923	Reticulocytosis
2729	GCLC	HP:0001939	Abnormality of metabolism/homeostasis
2729	GCLC	HP:0000739	Anxiety
2729	GCLC	HP:0000716	Depression
2729	GCLC	HP:0000709	Psychosis
2729	GCLC	HP:0006904	Late-onset spinocerebellar degeneration
2729	GCLC	HP:0000787	Nephrolithiasis
2729	GCLC	HP:0004401	Meconium ileus
2729	GCLC	HP:0003198	Myopathy
2729	GCLC	HP:0012873	Absent vas deferens
2729	GCLC	HP:0045082	Decreased body mass index
2729	GCLC	HP:0000952	Jaundice
2729	GCLC	HP:0000939	Osteoporosis
2729	GCLC	HP:0000938	Osteopenia
2729	GCLC	HP:0012236	Elevated sweat chloride
2729	GCLC	HP:0000246	Sinusitis
2729	GCLC	HP:0001508	Failure to thrive
2729	GCLC	HP:0002842	Recurrent Burkholderia cepacia infections
2729	GCLC	HP:0006536	Airway obstruction
2729	GCLC	HP:0002910	Elevated hepatic transaminase
2729	GCLC	HP:0000365	Hearing impairment
2729	GCLC	HP:0005376	Recurrent Haemophilus influenzae infections
2729	GCLC	HP:0001738	Exocrine pancreatic insufficiency
2729	GCLC	HP:0001878	Hemolytic anemia
2731	GLDC	HP:0001298	Encephalopathy
2731	GLDC	HP:0001290	Generalized hypotonia
2731	GLDC	HP:0001274	Agenesis of corpus callosum
2731	GLDC	HP:0001254	Lethargy
2731	GLDC	HP:0001250	Seizure
2731	GLDC	HP:0001252	Hypotonia
2731	GLDC	HP:0001249	Intellectual disability
2731	GLDC	HP:0001265	Hyporeflexia
2731	GLDC	HP:0001347	Hyperreflexia
2731	GLDC	HP:0000007	Autosomal recessive inheritance
2731	GLDC	HP:0001336	Myoclonus
2731	GLDC	HP:0002154	Hyperglycinemia
2731	GLDC	HP:0100710	Impulsivity
2731	GLDC	HP:0000752	Hyperactivity
2731	GLDC	HP:0000737	Irritability
2731	GLDC	HP:0000718	Aggressive behavior
2731	GLDC	HP:0000711	Restlessness
2731	GLDC	HP:0003108	Hyperglycinuria
2731	GLDC	HP:0100247	Recurrent singultus
2731	GLDC	HP:0001522	Death in infancy
2733	GLE1	HP:0001188	Hand clenching
2733	GLE1	HP:0007277	Paucity of anterior horn motor neurons
2733	GLE1	HP:0001290	Generalized hypotonia
2733	GLE1	HP:0001270	Motor delay
2733	GLE1	HP:0001250	Seizure
2733	GLE1	HP:0001260	Dysarthria
2733	GLE1	HP:0001257	Spasticity
2733	GLE1	HP:0007373	Motor neuron atrophy
2733	GLE1	HP:0007354	Amyotrophic lateral sclerosis
2733	GLE1	HP:0002540	Inability to walk
2733	GLE1	HP:0002522	Areflexia of lower limbs
2733	GLE1	HP:0003828	Variable expressivity
2733	GLE1	HP:0003811	Neonatal death
2733	GLE1	HP:0001376	Limitation of joint mobility
2733	GLE1	HP:0001385	Hip dysplasia
2733	GLE1	HP:0001349	Facial diplegia
2733	GLE1	HP:0001348	Brisk reflexes
2733	GLE1	HP:0000028	Cryptorchidism
2733	GLE1	HP:0001332	Dystonia
2733	GLE1	HP:0000007	Autosomal recessive inheritance
2733	GLE1	HP:0002650	Scoliosis
2733	GLE1	HP:0025425	Laryngospasm
2733	GLE1	HP:0002795	Abnormal respiratory system physiology
2733	GLE1	HP:0002757	Recurrent fractures
2733	GLE1	HP:0002747	Respiratory insufficiency due to muscle weakness
2733	GLE1	HP:0002017	Nausea and vomiting
2733	GLE1	HP:0003312	Abnormal form of the vertebral bodies
2733	GLE1	HP:0003324	Generalized muscle weakness
2733	GLE1	HP:0002089	Pulmonary hypoplasia
2733	GLE1	HP:0002094	Dyspnea
2733	GLE1	HP:0003394	Muscle spasm
2733	GLE1	HP:0002058	Myopathic facies
2733	GLE1	HP:0002059	Cerebral atrophy
2733	GLE1	HP:0003477	Peripheral axonal neuropathy
2733	GLE1	HP:0003470	Paralysis
2733	GLE1	HP:0002180	Neurodegeneration
2733	GLE1	HP:0003577	Congenital onset
2733	GLE1	HP:0011968	Feeding difficulties
2733	GLE1	HP:0002355	Difficulty walking
2733	GLE1	HP:0009811	Abnormality of the elbow
2733	GLE1	HP:0009775	Amniotic constriction ring
2733	GLE1	HP:0002300	Mutism
2733	GLE1	HP:0006802	Abnormal anterior horn cell morphology
2733	GLE1	HP:0009004	Hypoplasia of the musculature
2733	GLE1	HP:0001989	Fetal akinesia sequence
2733	GLE1	HP:0004322	Short stature
2733	GLE1	HP:0000772	Abnormal rib morphology
2733	GLE1	HP:0000765	Abnormal thorax morphology
2733	GLE1	HP:0000739	Anxiety
2733	GLE1	HP:0000716	Depression
2733	GLE1	HP:0000712	Emotional lability
2733	GLE1	HP:0000713	Agitation
2733	GLE1	HP:0003103	Abnormal cortical bone morphology
2733	GLE1	HP:0003100	Slender long bone
2733	GLE1	HP:0004571	Widening of cervical spinal canal
2733	GLE1	HP:0003202	Skeletal muscle atrophy
2733	GLE1	HP:0003272	Abnormal hip bone morphology
2733	GLE1	HP:0000954	Single transverse palmar crease
2733	GLE1	HP:0000969	Edema
2733	GLE1	HP:0000278	Retrognathia
2733	GLE1	HP:0002808	Kyphosis
2733	GLE1	HP:0002804	Arthrogryposis multiplex congenita
2733	GLE1	HP:0000252	Microcephaly
2733	GLE1	HP:0000217	Xerostomia
2733	GLE1	HP:0002878	Respiratory failure
2733	GLE1	HP:0000218	High palate
2733	GLE1	HP:0001561	Polyhydramnios
2733	GLE1	HP:0001560	Abnormality of the amniotic fluid
2733	GLE1	HP:0012378	Fatigue
2733	GLE1	HP:0030196	Fatigable weakness of respiratory muscles
2733	GLE1	HP:0030195	Fatigable weakness of swallowing muscles
2733	GLE1	HP:0030192	Fatigable weakness of bulbar muscles
2733	GLE1	HP:0000369	Low-set ears
2733	GLE1	HP:0000368	Low-set, posteriorly rotated ears
2733	GLE1	HP:0000347	Micrognathia
2733	GLE1	HP:0000316	Hypertelorism
2733	GLE1	HP:0000494	Downslanted palpebral fissures
2733	GLE1	HP:0000470	Short neck
2733	GLE1	HP:0000465	Webbed neck
2733	GLE1	HP:0001762	Talipes equinovarus
2733	GLE1	HP:0001838	Rocker bottom foot
2733	GLE1	HP:0000508	Ptosis
2733	GLE1	HP:0011220	Prominent forehead
2733	GLE1	HP:0012531	Pain
2733	GLE1	HP:0000545	Myopia
2735	GLI1	HP:0001177	Preaxial hand polydactyly
2735	GLI1	HP:0002488	Acute leukemia
2735	GLI1	HP:0001161	Hand polydactyly
2735	GLI1	HP:0009944	Partial duplication of thumb phalanx
2735	GLI1	HP:0009882	Short distal phalanx of finger
2735	GLI1	HP:0001249	Intellectual disability
2735	GLI1	HP:0001231	Abnormal fingernail morphology
2735	GLI1	HP:0001241	Capitate-hamate fusion
2735	GLI1	HP:0008678	Renal hypoplasia/aplasia
2735	GLI1	HP:0000077	Abnormality of the kidney
2735	GLI1	HP:0000072	Hydroureter
2735	GLI1	HP:0000069	Abnormality of the ureter
2735	GLI1	HP:0000039	Epispadias
2735	GLI1	HP:0000047	Hypospadias
2735	GLI1	HP:0000028	Cryptorchidism
2735	GLI1	HP:0000008	Abnormal morphology of female internal genitalia
2735	GLI1	HP:0000007	Autosomal recessive inheritance
2735	GLI1	HP:0002644	Abnormal pelvic girdle bone morphology
2735	GLI1	HP:0008921	Neonatal short-limb short stature
2735	GLI1	HP:0000190	Abnormal oral frenulum morphology
2735	GLI1	HP:0000164	Abnormality of the dentition
2735	GLI1	HP:0002750	Delayed skeletal maturation
2735	GLI1	HP:0002097	Emphysema
2735	GLI1	HP:0002164	Nail dysplasia
2735	GLI1	HP:0011830	Abnormal oral mucosa morphology
2735	GLI1	HP:0003577	Congenital onset
2735	GLI1	HP:0005561	Abnormality of bone marrow cell morphology
2735	GLI1	HP:0011362	Abnormal hair quantity
2735	GLI1	HP:0000684	Delayed eruption of teeth
2735	GLI1	HP:0000691	Microdontia
2735	GLI1	HP:0000668	Hypodontia
2735	GLI1	HP:0004322	Short stature
2735	GLI1	HP:0030680	Abnormality of cardiovascular system morphology
2735	GLI1	HP:0000774	Narrow chest
2735	GLI1	HP:0000924	Abnormality of the skeletal system
2735	GLI1	HP:0005895	Radial deviation of thumb terminal phalanx
2735	GLI1	HP:0100259	Postaxial polydactyly
2735	GLI1	HP:0010306	Short thorax
2735	GLI1	HP:0001595	Abnormal hair morphology
2735	GLI1	HP:0001597	Abnormality of the nail
2735	GLI1	HP:0005048	Synostosis of carpal bones
2735	GLI1	HP:0000233	Thin vermilion border
2735	GLI1	HP:0002857	Genu valgum
2735	GLI1	HP:0001508	Failure to thrive
2735	GLI1	HP:0001511	Intrauterine growth retardation
2735	GLI1	HP:0011065	Conical incisor
2735	GLI1	HP:0001696	Situs inversus totalis
2735	GLI1	HP:0002983	Micromelia
2735	GLI1	HP:0001651	Dextrocardia
2735	GLI1	HP:0001654	Abnormal heart valve morphology
2735	GLI1	HP:0001629	Ventricular septal defect
2735	GLI1	HP:0002967	Cubitus valgus
2735	GLI1	HP:0001631	Atrial septal defect
2735	GLI1	HP:0006695	Atrioventricular canal defect
2735	GLI1	HP:0000486	Strabismus
2735	GLI1	HP:0006703	Aplasia/Hypoplasia of the lungs
2735	GLI1	HP:0001829	Foot polydactyly
2735	GLI1	HP:0001800	Hypoplastic toenails
2736	GLI2	HP:0001162	Postaxial hand polydactyly
2736	GLI2	HP:0002465	Poor speech
2736	GLI2	HP:0002474	Expressive language delay
2736	GLI2	HP:0002451	Limb dystonia
2736	GLI2	HP:0007301	Oromotor apraxia
2736	GLI2	HP:0009932	Single naris
2736	GLI2	HP:0009914	Cyclopia
2736	GLI2	HP:0009888	Abnormality of secondary sexual hair
2736	GLI2	HP:0002418	Abnormal midbrain morphology
2736	GLI2	HP:0003745	Sporadic
2736	GLI2	HP:0001290	Generalized hypotonia
2736	GLI2	HP:0001274	Agenesis of corpus callosum
2736	GLI2	HP:0001273	Abnormal corpus callosum morphology
2736	GLI2	HP:0001254	Lethargy
2736	GLI2	HP:0001250	Seizure
2736	GLI2	HP:0001249	Intellectual disability
2736	GLI2	HP:0001263	Global developmental delay
2736	GLI2	HP:0001257	Spasticity
2736	GLI2	HP:0100842	Septo-optic dysplasia
2736	GLI2	HP:0008734	Decreased testicular size
2736	GLI2	HP:0008736	Hypoplasia of penis
2736	GLI2	HP:0007375	Abnormal septum pellucidum morphology
2736	GLI2	HP:0002540	Inability to walk
2736	GLI2	HP:0002536	Abnormal cortical gyration
2736	GLI2	HP:0003828	Variable expressivity
2736	GLI2	HP:0003829	Typified by incomplete penetrance
2736	GLI2	HP:0000062	Ambiguous genitalia
2736	GLI2	HP:0000044	Hypogonadotropic hypogonadism
2736	GLI2	HP:0001371	Flexion contracture
2736	GLI2	HP:0000054	Micropenis
2736	GLI2	HP:0001355	Megalencephaly
2736	GLI2	HP:0001360	Holoprosencephaly
2736	GLI2	HP:0000028	Cryptorchidism
2736	GLI2	HP:0001331	Absent septum pellucidum
2736	GLI2	HP:0001328	Specific learning disability
2736	GLI2	HP:0001344	Absent speech
2736	GLI2	HP:0001338	Partial agenesis of the corpus callosum
2736	GLI2	HP:0000006	Autosomal dominant inheritance
2736	GLI2	HP:0002650	Scoliosis
2736	GLI2	HP:0002615	Hypotension
2736	GLI2	HP:0000193	Bifid uvula
2736	GLI2	HP:0000161	Median cleft lip
2736	GLI2	HP:0000175	Cleft palate
2736	GLI2	HP:0000141	Amenorrhea
2736	GLI2	HP:0000135	Hypogonadism
2736	GLI2	HP:0006315	Solitary median maxillary central incisor
2736	GLI2	HP:0008947	Infantile muscular hypotonia
2736	GLI2	HP:0012110	Hypoplasia of the pons
2736	GLI2	HP:0000119	Abnormality of the genitourinary system
2736	GLI2	HP:0002793	Abnormal pattern of respiration
2736	GLI2	HP:0000104	Renal agenesis
2736	GLI2	HP:0002750	Delayed skeletal maturation
2736	GLI2	HP:0002744	Bilateral cleft lip and palate
2736	GLI2	HP:0002020	Gastroesophageal reflux
2736	GLI2	HP:0002019	Constipation
2736	GLI2	HP:0002033	Poor suck
2736	GLI2	HP:0002015	Dysphagia
2736	GLI2	HP:0002013	Vomiting
2736	GLI2	HP:0040327	Abnormal morphology of the olfactory bulb
2736	GLI2	HP:0004637	Decreased cervical spine mobility
2736	GLI2	HP:0005968	Temperature instability
2736	GLI2	HP:0011800	Midface retrusion
2736	GLI2	HP:0002099	Asthma
2736	GLI2	HP:0010442	Polydactyly
2736	GLI2	HP:0011755	Ectopic posterior pituitary
2736	GLI2	HP:0008187	Absence of secondary sex characteristics
2736	GLI2	HP:0011787	Central hypothyroidism
2736	GLI2	HP:0003468	Abnormal vertebral morphology
2736	GLI2	HP:0003458	EMG: myopathic abnormalities
2736	GLI2	HP:0008245	Pituitary hypothyroidism
2736	GLI2	HP:0002270	Abnormality of the autonomic nervous system
2736	GLI2	HP:0100704	Cerebral visual impairment
2736	GLI2	HP:0100710	Impulsivity
2736	GLI2	HP:0002247	Duodenal atresia
2736	GLI2	HP:0010654	Aplasia of the falx cerebri
2736	GLI2	HP:0007018	Attention deficit hyperactivity disorder
2736	GLI2	HP:0010644	Midnasal stenosis
2736	GLI2	HP:0010650	Hypoplasia of the premaxilla
2736	GLI2	HP:0011968	Feeding difficulties
2736	GLI2	HP:0010627	Anterior pituitary hypoplasia
2736	GLI2	HP:0010626	Anterior pituitary agenesis
2736	GLI2	HP:0011951	Aspiration pneumonia
2736	GLI2	HP:0002363	Abnormal brainstem morphology
2736	GLI2	HP:0001028	Hemangioma
2736	GLI2	HP:0008501	Median cleft lip and palate
2736	GLI2	HP:0010804	Tented upper lip vermilion
2736	GLI2	HP:0009800	Maternal diabetes
2736	GLI2	HP:0031860	Abnormal heart rate variability
2736	GLI2	HP:0000612	Iris coloboma
2736	GLI2	HP:0001943	Hypoglycemia
2736	GLI2	HP:0000609	Optic nerve hypoplasia
2736	GLI2	HP:0000601	Hypotelorism
2736	GLI2	HP:0009062	Infantile axial hypotonia
2736	GLI2	HP:0011344	Severe global developmental delay
2736	GLI2	HP:0000689	Dental malocclusion
2736	GLI2	HP:0012650	Perisylvian polymicrogyria
2736	GLI2	HP:0004322	Short stature
2736	GLI2	HP:0006979	Sleep-wake cycle disturbance
2736	GLI2	HP:0005625	Osteoporosis of vertebrae
2736	GLI2	HP:0030680	Abnormality of cardiovascular system morphology
2736	GLI2	HP:0031913	Rhombencephalosynapsis
2736	GLI2	HP:0000772	Abnormal rib morphology
2736	GLI2	HP:0012731	Ectopic anterior pituitary gland
2736	GLI2	HP:0000737	Irritability
2736	GLI2	HP:0000739	Anxiety
2736	GLI2	HP:0000736	Short attention span
2736	GLI2	HP:0012718	Morphological abnormality of the gastrointestinal tract
2736	GLI2	HP:0000741	Apathy
2736	GLI2	HP:0000716	Depression
2736	GLI2	HP:0000708	Atypical behavior
2736	GLI2	HP:0011471	Gastrostomy tube feeding in infancy
2736	GLI2	HP:0011442	Abnormal central motor function
2736	GLI2	HP:0000789	Infertility
2736	GLI2	HP:0003196	Short nose
2736	GLI2	HP:0000924	Abnormality of the skeletal system
2736	GLI2	HP:0004478	Ethmoidal encephalocele
2736	GLI2	HP:0000873	Diabetes insipidus
2736	GLI2	HP:0000871	Panhypopituitarism
2736	GLI2	HP:0000863	Central diabetes insipidus
2736	GLI2	HP:0000839	Pituitary dwarfism
2736	GLI2	HP:0000830	Anterior hypopituitarism
2736	GLI2	HP:0012806	Proboscis
2736	GLI2	HP:0000818	Abnormality of the endocrine system
2736	GLI2	HP:0000826	Precocious puberty
2736	GLI2	HP:0000821	Hypothyroidism
2736	GLI2	HP:0000824	Decreased response to growth hormone stimulation test
2736	GLI2	HP:0000823	Delayed puberty
2736	GLI2	HP:0010290	Short hard palate
2736	GLI2	HP:0040064	Abnormality of limbs
2736	GLI2	HP:0040075	Hypopituitarism
2736	GLI2	HP:0040086	Abnormal prolactin level
2736	GLI2	HP:0010311	Aplasia/Hypoplasia of the breasts
2736	GLI2	HP:0100259	Postaxial polydactyly
2736	GLI2	HP:0045005	Neural tube defect
2736	GLI2	HP:0000938	Osteopenia
2736	GLI2	HP:0012285	Abnormal hypothalamus physiology
2736	GLI2	HP:0000256	Macrocephaly
2736	GLI2	HP:0000272	Malar flattening
2736	GLI2	HP:0002827	Hip dislocation
2736	GLI2	HP:0000238	Hydrocephalus
2736	GLI2	HP:0000252	Microcephaly
2736	GLI2	HP:0000218	High palate
2736	GLI2	HP:0001545	Anteriorly placed anus
2736	GLI2	HP:0002871	Central apnea
2736	GLI2	HP:0000202	Orofacial cleft
2736	GLI2	HP:0000204	Cleft upper lip
2736	GLI2	HP:0001508	Failure to thrive
2736	GLI2	HP:0001511	Intrauterine growth retardation
2736	GLI2	HP:0001510	Growth delay
2736	GLI2	HP:0012378	Fatigue
2736	GLI2	HP:0000395	Prominent antihelix
2736	GLI2	HP:0006528	Chronic lung disease
2736	GLI2	HP:0002920	Decreased circulating ACTH level
2736	GLI2	HP:0006485	Agenesis of incisor
2736	GLI2	HP:0001680	Coarctation of aorta
2736	GLI2	HP:0000327	Hypoplasia of the maxilla
2736	GLI2	HP:0000322	Short philtrum
2736	GLI2	HP:0001627	Abnormal heart morphology
2736	GLI2	HP:0001622	Premature birth
2736	GLI2	HP:0001636	Tetralogy of Fallot
2736	GLI2	HP:0000407	Sensorineural hearing impairment
2736	GLI2	HP:0000400	Macrotia
2736	GLI2	HP:0005280	Depressed nasal bridge
2736	GLI2	HP:0000486	Strabismus
2736	GLI2	HP:0000478	Abnormality of the eye
2736	GLI2	HP:0000463	Anteverted nares
2736	GLI2	HP:0000457	Depressed nasal ridge
2736	GLI2	HP:0000453	Choanal atresia
2736	GLI2	HP:0000446	Narrow nasal bridge
2736	GLI2	HP:0011297	Abnormal digit morphology
2736	GLI2	HP:0011272	Underdeveloped tragus
2736	GLI2	HP:0000528	Anophthalmia
2736	GLI2	HP:0000568	Microphthalmia
2737	GLI3	HP:0001177	Preaxial hand polydactyly
2737	GLI3	HP:0001171	Split hand
2737	GLI3	HP:0001156	Brachydactyly
2737	GLI3	HP:0001162	Postaxial hand polydactyly
2737	GLI3	HP:0001159	Syndactyly
2737	GLI3	HP:0002475	Myelomeningocele
2737	GLI3	HP:0002444	Hypothalamic hamartoma
2737	GLI3	HP:0010958	Bilateral renal agenesis
2737	GLI3	HP:0009971	Polydactyly affecting the 4th finger
2737	GLI3	HP:0009958	Polydactyly affecting the 3rd finger
2737	GLI3	HP:0009942	Duplication of thumb phalanx
2737	GLI3	HP:0001199	Triphalangeal thumb
2737	GLI3	HP:0010864	Intellectual disability, severe
2737	GLI3	HP:0008551	Microtia
2737	GLI3	HP:0001274	Agenesis of corpus callosum
2737	GLI3	HP:0001273	Abnormal corpus callosum morphology
2737	GLI3	HP:0001256	Intellectual disability, mild
2737	GLI3	HP:0001250	Seizure
2737	GLI3	HP:0001249	Intellectual disability
2737	GLI3	HP:0001263	Global developmental delay
2737	GLI3	HP:0006101	Finger syndactyly
2737	GLI3	HP:0008751	Laryngeal cleft
2737	GLI3	HP:0008734	Decreased testicular size
2737	GLI3	HP:0008706	Distal urethral duplication
2737	GLI3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
2737	GLI3	HP:0006042	Y-shaped metacarpals
2737	GLI3	HP:0007360	Aplasia/Hypoplasia of the cerebellum
2737	GLI3	HP:0008684	Aplasia/hypoplasia of the uterus
2737	GLI3	HP:0003828	Variable expressivity
2737	GLI3	HP:0006097	3-4 finger syndactyly
2737	GLI3	HP:0003811	Neonatal death
2737	GLI3	HP:0000089	Renal hypoplasia
2737	GLI3	HP:0000086	Ectopic kidney
2737	GLI3	HP:0000098	Tall stature
2737	GLI3	HP:0000062	Ambiguous genitalia
2737	GLI3	HP:0000072	Hydroureter
2737	GLI3	HP:0000046	Small scrotum
2737	GLI3	HP:0000054	Micropenis
2737	GLI3	HP:0001385	Hip dysplasia
2737	GLI3	HP:0000047	Hypospadias
2737	GLI3	HP:0002683	Abnormal calvaria morphology
2737	GLI3	HP:0000023	Inguinal hernia
2737	GLI3	HP:0001363	Craniosynostosis
2737	GLI3	HP:0001360	Holoprosencephaly
2737	GLI3	HP:0000028	Cryptorchidism
2737	GLI3	HP:0006159	Mesoaxial hand polydactyly
2737	GLI3	HP:0006136	Bilateral postaxial polydactyly
2737	GLI3	HP:0002673	Coxa valga
2737	GLI3	HP:0000006	Autosomal dominant inheritance
2737	GLI3	HP:0001305	Dandy-Walker malformation
2737	GLI3	HP:0002652	Skeletal dysplasia
2737	GLI3	HP:0001321	Cerebellar hypoplasia
2737	GLI3	HP:0003974	Absent radius
2737	GLI3	HP:0007601	Midline facial capillary hemangioma
2737	GLI3	HP:0000193	Bifid uvula
2737	GLI3	HP:0000191	Accessory oral frenulum
2737	GLI3	HP:0012165	Oligodactyly
2737	GLI3	HP:0000175	Cleft palate
2737	GLI3	HP:0000171	Microglossia
2737	GLI3	HP:0410030	Cleft lip
2737	GLI3	HP:0000122	Unilateral renal agenesis
2737	GLI3	HP:0001459	1-3 toe syndactyly
2737	GLI3	HP:0000126	Hydronephrosis
2737	GLI3	HP:0000110	Renal dysplasia
2737	GLI3	HP:0000107	Renal cyst
2737	GLI3	HP:0002023	Anal atresia
2737	GLI3	HP:0005990	Thyroid hypoplasia
2737	GLI3	HP:0002007	Frontal bossing
2737	GLI3	HP:0002093	Respiratory insufficiency
2737	GLI3	HP:0010442	Polydactyly
2737	GLI3	HP:0011748	Adrenocorticotropic hormone deficiency
2737	GLI3	HP:0011734	Central adrenal insufficiency
2737	GLI3	HP:0008188	Thyroid dysgenesis
2737	GLI3	HP:0005917	Supernumerary metacarpal bones
2737	GLI3	HP:0008163	Decreased circulating cortisol level
2737	GLI3	HP:0009473	Joint contracture of the hand
2737	GLI3	HP:0002139	Arrhinencephaly
2737	GLI3	HP:0002119	Ventriculomegaly
2737	GLI3	HP:0002101	Abnormal lung lobation
2737	GLI3	HP:0011939	3-4 finger cutaneous syndactyly
2737	GLI3	HP:0002164	Nail dysplasia
2737	GLI3	HP:0010564	Bifid epiglottis
2737	GLI3	HP:0010554	Cutaneous finger syndactyly
2737	GLI3	HP:0008240	Secondary growth hormone deficiency
2737	GLI3	HP:0008245	Pituitary hypothyroidism
2737	GLI3	HP:0009556	Absent tibia
2737	GLI3	HP:0008213	Gonadotropin deficiency
2737	GLI3	HP:0008207	Primary adrenal insufficiency
2737	GLI3	HP:0003577	Congenital onset
2737	GLI3	HP:0010713	1-5 toe syndactyly
2737	GLI3	HP:0200117	Recurrent upper and lower respiratory tract infections
2737	GLI3	HP:0008368	Tarsal synostosis
2737	GLI3	HP:0001007	Hirsutism
2737	GLI3	HP:0004987	Mesomelic leg shortening
2737	GLI3	HP:0010821	Focal emotional seizure with laughing
2737	GLI3	HP:0010059	Broad hallux phalanx
2737	GLI3	HP:0010055	Broad hallux
2737	GLI3	HP:0010037	Aplasia of the 2nd metacarpal
2737	GLI3	HP:0010044	Short 4th metacarpal
2737	GLI3	HP:0010043	Aplasia of the 4th metacarpal
2737	GLI3	HP:0000695	Natal tooth
2737	GLI3	HP:0011330	Metopic synostosis
2737	GLI3	HP:0011304	Broad thumb
2737	GLI3	HP:0004322	Short stature
2737	GLI3	HP:0004303	Abnormal muscle fiber morphology
2737	GLI3	HP:0005616	Accelerated skeletal maturation
2737	GLI3	HP:0003074	Hyperglycemia
2737	GLI3	HP:0003048	Radial head subluxation
2737	GLI3	HP:0005688	Dysplastic distal thumb phalanges with a central hole
2737	GLI3	HP:0003027	Mesomelia
2737	GLI3	HP:0005684	Distal arthrogryposis
2737	GLI3	HP:0012751	Abnormal basal ganglia MRI signal intensity
2737	GLI3	HP:0000749	Paroxysmal bursts of laughter
2737	GLI3	HP:0010112	Mesoaxial foot polydactyly
2737	GLI3	HP:0000776	Congenital diaphragmatic hernia
2737	GLI3	HP:0005736	Short tibia
2737	GLI3	HP:0030799	Scaphocephaly
2737	GLI3	HP:0003196	Short nose
2737	GLI3	HP:0000902	Rib fusion
2737	GLI3	HP:0000889	Abnormal clavicle morphology
2737	GLI3	HP:0000871	Panhypopituitarism
2737	GLI3	HP:0000835	Adrenal hypoplasia
2737	GLI3	HP:0000826	Precocious puberty
2737	GLI3	HP:0000824	Decreased response to growth hormone stimulation test
2737	GLI3	HP:0040075	Hypopituitarism
2737	GLI3	HP:0040086	Abnormal prolactin level
2737	GLI3	HP:0005892	Proximal tibial and fibular fusion
2737	GLI3	HP:0100260	Mesoaxial polydactyly
2737	GLI3	HP:0100258	Preaxial polydactyly
2737	GLI3	HP:0000260	Wide anterior fontanel
2737	GLI3	HP:0000256	Macrocephaly
2737	GLI3	HP:0000270	Delayed cranial suture closure
2737	GLI3	HP:0000273	Facial grimacing
2737	GLI3	HP:0000268	Dolichocephaly
2737	GLI3	HP:0000269	Prominent occiput
2737	GLI3	HP:0006460	Increased laxity of ankles
2737	GLI3	HP:0006426	Rudimentary to absent tibiae
2737	GLI3	HP:0006402	Distal shortening of limbs
2737	GLI3	HP:0002827	Hip dislocation
2737	GLI3	HP:0006380	Knee flexion contracture
2737	GLI3	HP:0000243	Trigonocephaly
2737	GLI3	HP:0000238	Hydrocephalus
2737	GLI3	HP:0001545	Anteriorly placed anus
2737	GLI3	HP:0001562	Oligohydramnios
2737	GLI3	HP:0030010	Hydrometrocolpos
2737	GLI3	HP:0030021	Auricular tag
2737	GLI3	HP:0030032	Partial absence of foot
2737	GLI3	HP:0001537	Umbilical hernia
2737	GLI3	HP:0000204	Cleft upper lip
2737	GLI3	HP:0001520	Large for gestational age
2737	GLI3	HP:0001511	Intrauterine growth retardation
2737	GLI3	HP:0012386	Absent hallux
2737	GLI3	HP:0011026	Aplasia/Hypoplasia of the vagina
2737	GLI3	HP:0002937	Hemivertebrae
2737	GLI3	HP:0005151	Preductal coarctation of the aorta
2737	GLI3	HP:0000365	Hearing impairment
2737	GLI3	HP:0000358	Posteriorly rotated ears
2737	GLI3	HP:0000368	Low-set, posteriorly rotated ears
2737	GLI3	HP:0000340	Sloping forehead
2737	GLI3	HP:0001680	Coarctation of aorta
2737	GLI3	HP:0000348	High forehead
2737	GLI3	HP:0000316	Hypertelorism
2737	GLI3	HP:0001643	Patent ductus arteriosus
2737	GLI3	HP:0002986	Radial bowing
2737	GLI3	HP:0001629	Ventricular septal defect
2737	GLI3	HP:0001627	Abnormal heart morphology
2737	GLI3	HP:0000308	Microretrognathia
2737	GLI3	HP:0001631	Atrial septal defect
2737	GLI3	HP:0004059	Radial club hand
2737	GLI3	HP:0006695	Atrioventricular canal defect
2737	GLI3	HP:0005349	Hypoplasia of the epiglottis
2737	GLI3	HP:0000407	Sensorineural hearing impairment
2737	GLI3	HP:0005280	Depressed nasal bridge
2737	GLI3	HP:0000494	Downslanted palpebral fissures
2737	GLI3	HP:0000463	Anteverted nares
2737	GLI3	HP:0000457	Depressed nasal ridge
2737	GLI3	HP:0001770	Toe syndactyly
2737	GLI3	HP:0000453	Choanal atresia
2737	GLI3	HP:0000413	Atresia of the external auditory canal
2737	GLI3	HP:0001762	Talipes equinovarus
2737	GLI3	HP:0000431	Wide nasal bridge
2737	GLI3	HP:0030431	Osteochondroma
2737	GLI3	HP:0001849	Foot oligodactyly
2737	GLI3	HP:0001845	Overlapping toe
2737	GLI3	HP:0001841	Preaxial foot polydactyly
2737	GLI3	HP:0001840	Metatarsus adductus
2737	GLI3	HP:0001837	Broad toe
2737	GLI3	HP:0000506	Telecanthus
2737	GLI3	HP:0001839	Split foot
2737	GLI3	HP:0000508	Ptosis
2737	GLI3	HP:0001836	Camptodactyly of toe
2737	GLI3	HP:0001830	Postaxial foot polydactyly
2737	GLI3	HP:0000568	Microphthalmia
2737	GLI3	HP:0001883	Talipes
2741	GLRA1	HP:0001276	Hypertonia
2741	GLRA1	HP:0001288	Gait disturbance
2741	GLRA1	HP:0001250	Seizure
2741	GLRA1	HP:0001251	Ataxia
2741	GLRA1	HP:0001249	Intellectual disability
2741	GLRA1	HP:0001257	Spasticity
2741	GLRA1	HP:0001373	Joint dislocation
2741	GLRA1	HP:0001387	Joint stiffness
2741	GLRA1	HP:0000023	Inguinal hernia
2741	GLRA1	HP:0001347	Hyperreflexia
2741	GLRA1	HP:0000007	Autosomal recessive inheritance
2741	GLRA1	HP:0000006	Autosomal dominant inheritance
2741	GLRA1	HP:0001336	Myoclonus
2741	GLRA1	HP:0002020	Gastroesophageal reflux
2741	GLRA1	HP:0002036	Hiatus hernia
2741	GLRA1	HP:0002063	Rigidity
2741	GLRA1	HP:0002104	Apnea
2741	GLRA1	HP:0002267	Exaggerated startle response
2741	GLRA1	HP:0003593	Infantile onset
2741	GLRA1	HP:0003552	Muscle stiffness
2741	GLRA1	HP:0100790	Hernia
2741	GLRA1	HP:0002380	Fasciculations
2741	GLRA1	HP:0002360	Sleep disturbance
2741	GLRA1	HP:0002359	Frequent falls
2741	GLRA1	HP:0002375	Hypokinesia
2741	GLRA1	HP:0100633	Esophagitis
2741	GLRA1	HP:0031951	Nocturnal seizures
2741	GLRA1	HP:0100022	Abnormality of movement
2741	GLRA1	HP:0002827	Hip dislocation
2741	GLRA1	HP:0001537	Umbilical hernia
2741	GLRA1	HP:0002835	Aspiration
2742	GLRA2	HP:0001256	Intellectual disability, mild
2742	GLRA2	HP:0001417	X-linked inheritance
2742	GLRA2	HP:0002033	Poor suck
2742	GLRA2	HP:0002069	Bilateral tonic-clonic seizure
2742	GLRA2	HP:0000752	Hyperactivity
2742	GLRA2	HP:0000732	Inflexible adherence to routines or rituals
2742	GLRA2	HP:0000750	Delayed speech and language development
2742	GLRA2	HP:0000717	Autism
2742	GLRA2	HP:0011463	Childhood onset
2742	GLRA2	HP:0011003	High myopia
2742	GLRA2	HP:0000403	Recurrent otitis media
2743	GLRB	HP:0001276	Hypertonia
2743	GLRB	HP:0001270	Motor delay
2743	GLRB	HP:0001288	Gait disturbance
2743	GLRB	HP:0001250	Seizure
2743	GLRB	HP:0001251	Ataxia
2743	GLRB	HP:0001249	Intellectual disability
2743	GLRB	HP:0001257	Spasticity
2743	GLRB	HP:0001373	Joint dislocation
2743	GLRB	HP:0001387	Joint stiffness
2743	GLRB	HP:0001347	Hyperreflexia
2743	GLRB	HP:0000007	Autosomal recessive inheritance
2743	GLRB	HP:0001336	Myoclonus
2743	GLRB	HP:0002020	Gastroesophageal reflux
2743	GLRB	HP:0002036	Hiatus hernia
2743	GLRB	HP:0030904	Glabellar reflex
2743	GLRB	HP:0002063	Rigidity
2743	GLRB	HP:0010519	Increased fetal movement
2743	GLRB	HP:0002267	Exaggerated startle response
2743	GLRB	HP:0003577	Congenital onset
2743	GLRB	HP:0003552	Muscle stiffness
2743	GLRB	HP:0100790	Hernia
2743	GLRB	HP:0002380	Fasciculations
2743	GLRB	HP:0002360	Sleep disturbance
2743	GLRB	HP:0100633	Esophagitis
2743	GLRB	HP:0003623	Neonatal onset
2743	GLRB	HP:0100022	Abnormality of movement
2743	GLRB	HP:0002827	Hip dislocation
2743	GLRB	HP:0001537	Umbilical hernia
2743	GLRB	HP:0000483	Astigmatism
2743	GLRB	HP:0000565	Esotropia
2743	GLRB	HP:0000545	Myopia
2744	GLS	HP:0007305	CNS demyelination
2744	GLS	HP:0010851	EEG with burst suppression
2744	GLS	HP:0009879	Simplified gyral pattern
2744	GLS	HP:0001272	Cerebellar atrophy
2744	GLS	HP:0001250	Seizure
2744	GLS	HP:0001252	Hypotonia
2744	GLS	HP:0001263	Global developmental delay
2744	GLS	HP:0000007	Autosomal recessive inheritance
2744	GLS	HP:0000006	Autosomal dominant inheritance
2744	GLS	HP:0012196	Cheyne-Stokes respiration
2744	GLS	HP:0001482	Subcutaneous nodule
2744	GLS	HP:0008936	Axial hypotonia
2744	GLS	HP:0002751	Kyphoscoliosis
2744	GLS	HP:0002093	Respiratory insufficiency
2744	GLS	HP:0002073	Progressive cerebellar ataxia
2744	GLS	HP:0002188	Delayed CNS myelination
2744	GLS	HP:0002194	Delayed gross motor development
2744	GLS	HP:0002171	Gliosis
2744	GLS	HP:0003593	Infantile onset
2744	GLS	HP:0003577	Congenital onset
2744	GLS	HP:0100716	Self-injurious behavior
2744	GLS	HP:0200134	Epileptic encephalopathy
2744	GLS	HP:0001036	Parakeratosis
2744	GLS	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2744	GLS	HP:0000750	Delayed speech and language development
2744	GLS	HP:0000713	Agitation
2744	GLS	HP:0011463	Childhood onset
2744	GLS	HP:0003217	Hyperglutaminemia
2744	GLS	HP:0000962	Hyperkeratosis
2744	GLS	HP:0002878	Respiratory failure
2744	GLS	HP:0005484	Secondary microcephaly
2746	GLUD1	HP:0001249	Intellectual disability
2746	GLUD1	HP:0001263	Global developmental delay
2746	GLUD1	HP:0012051	Reactive hypoglycemia
2746	GLUD1	HP:0001328	Specific learning disability
2746	GLUD1	HP:0001325	Hypoglycemic coma
2746	GLUD1	HP:0000006	Autosomal dominant inheritance
2746	GLUD1	HP:0008162	Asymptomatic hyperammonemia
2746	GLUD1	HP:0002121	Generalized non-motor (absence) seizure
2746	GLUD1	HP:0002197	Generalized-onset seizure
2746	GLUD1	HP:0002173	Hypoglycemic seizures
2746	GLUD1	HP:0008283	Fasting hyperinsulinemia
2746	GLUD1	HP:0003593	Infantile onset
2746	GLUD1	HP:0007018	Attention deficit hyperactivity disorder
2746	GLUD1	HP:0002342	Intellectual disability, moderate
2746	GLUD1	HP:0003623	Neonatal onset
2746	GLUD1	HP:0000825	Hyperinsulinemic hypoglycemia
2746	GLUD1	HP:0006476	Abnormality of the pancreatic islet cells
2746	GLUD1	HP:0001508	Failure to thrive
2746	GLUD1	HP:0011198	EEG with generalized epileptiform discharges
2746	GLUD1	HP:0012402	Increased urine alpha-ketoglutarate concentration
2747	GLUD2	HP:0007311	Short stepped shuffling gait
2747	GLUD2	HP:0003745	Sporadic
2747	GLUD2	HP:0001260	Dysarthria
2747	GLUD2	HP:0002529	Neuronal loss in central nervous system
2747	GLUD2	HP:0001332	Dystonia
2747	GLUD2	HP:0000012	Urinary urgency
2747	GLUD2	HP:0001337	Tremor
2747	GLUD2	HP:0000006	Autosomal dominant inheritance
2747	GLUD2	HP:0001300	Parkinsonism
2747	GLUD2	HP:0002019	Constipation
2747	GLUD2	HP:0002015	Dysphagia
2747	GLUD2	HP:0002067	Bradykinesia
2747	GLUD2	HP:0002063	Rigidity
2747	GLUD2	HP:0002172	Postural instability
2747	GLUD2	HP:0003587	Insidious onset
2747	GLUD2	HP:0003584	Late onset
2747	GLUD2	HP:0003581	Adult onset
2747	GLUD2	HP:0011960	Substantia nigra gliosis
2747	GLUD2	HP:0002360	Sleep disturbance
2747	GLUD2	HP:0003676	Progressive
2747	GLUD2	HP:0002322	Resting tremor
2747	GLUD2	HP:0031908	Micrographia
2747	GLUD2	HP:0000751	Personality changes
2747	GLUD2	HP:0000738	Hallucinations
2747	GLUD2	HP:0000716	Depression
2747	GLUD2	HP:0000726	Dementia
2747	GLUD2	HP:0100315	Lewy bodies
2747	GLUD2	HP:0000298	Mask-like facies
2747	GLUD2	HP:0012332	Abnormal autonomic nervous system physiology
2747	GLUD2	HP:0001621	Weak voice
2752	GLUL	HP:0500147	Hypoglutaminemia
2752	GLUL	HP:0500198	Decreased CSF glutamine concentration
2752	GLUL	HP:0002416	Subependymal cysts
2752	GLUL	HP:0001298	Encephalopathy
2752	GLUL	HP:0001290	Generalized hypotonia
2752	GLUL	HP:0001250	Seizure
2752	GLUL	HP:0001252	Hypotonia
2752	GLUL	HP:0003811	Neonatal death
2752	GLUL	HP:0001371	Flexion contracture
2752	GLUL	HP:0000007	Autosomal recessive inheritance
2752	GLUL	HP:0002643	Neonatal respiratory distress
2752	GLUL	HP:0002079	Hypoplasia of the corpus callosum
2752	GLUL	HP:0003429	CNS hypomyelination
2752	GLUL	HP:0002104	Apnea
2752	GLUL	HP:0002205	Recurrent respiratory infections
2752	GLUL	HP:0002395	Lower limb hyperreflexia
2752	GLUL	HP:0010783	Erythema
2752	GLUL	HP:0011344	Severe global developmental delay
2752	GLUL	HP:0001987	Hyperammonemia
2752	GLUL	HP:0006956	Lateral ventricle dilatation
2752	GLUL	HP:0030674	Antenatal onset
2752	GLUL	HP:0003196	Short nose
2752	GLUL	HP:0000233	Thin vermilion border
2752	GLUL	HP:0012385	Camptodactyly
2752	GLUL	HP:0000369	Low-set ears
2752	GLUL	HP:0002983	Micromelia
2752	GLUL	HP:0001662	Bradycardia
2752	GLUL	HP:0005280	Depressed nasal bridge
2752	GLUL	HP:0000463	Anteverted nares
2752	GLUL	HP:0012444	Brain atrophy
2752	GLUL	HP:0000431	Wide nasal bridge
2760	GM2A	HP:0002478	Progressive spastic quadriplegia
2760	GM2A	HP:0002476	Primitive reflex
2760	GM2A	HP:0007256	Abnormal pyramidal sign
2760	GM2A	HP:0002421	Poor head control
2760	GM2A	HP:0001290	Generalized hypotonia
2760	GM2A	HP:0001276	Hypertonia
2760	GM2A	HP:0001285	Spastic tetraparesis
2760	GM2A	HP:0001250	Seizure
2760	GM2A	HP:0001252	Hypotonia
2760	GM2A	HP:0001263	Global developmental delay
2760	GM2A	HP:0100852	Abnormal fear/anxiety-related behavior
2760	GM2A	HP:0001347	Hyperreflexia
2760	GM2A	HP:0008897	Postnatal growth retardation
2760	GM2A	HP:0001332	Dystonia
2760	GM2A	HP:0000007	Autosomal recessive inheritance
2760	GM2A	HP:0008936	Axial hypotonia
2760	GM2A	HP:0030904	Glabellar reflex
2760	GM2A	HP:0100543	Cognitive impairment
2760	GM2A	HP:0002072	Chorea
2760	GM2A	HP:0002059	Cerebral atrophy
2760	GM2A	HP:0003470	Paralysis
2760	GM2A	HP:0002180	Neurodegeneration
2760	GM2A	HP:0003495	GM2-ganglioside accumulation
2760	GM2A	HP:0002267	Exaggerated startle response
2760	GM2A	HP:0003593	Infantile onset
2760	GM2A	HP:0002200	Pseudobulbar signs
2760	GM2A	HP:0010729	Cherry red spot of the macula
2760	GM2A	HP:0002376	Developmental regression
2760	GM2A	HP:0002371	Loss of speech
2760	GM2A	HP:0010780	Hyperacusis
2760	GM2A	HP:0000618	Blindness
2760	GM2A	HP:0009062	Infantile axial hypotonia
2760	GM2A	HP:0004322	Short stature
2760	GM2A	HP:0000739	Anxiety
2760	GM2A	HP:0000741	Apathy
2760	GM2A	HP:0000719	Inappropriate behavior
2760	GM2A	HP:0000726	Dementia
2760	GM2A	HP:0030081	Punctate periventricular T2 hyperintense foci
2760	GM2A	HP:0002835	Aspiration
2760	GM2A	HP:0032794	Myoclonic seizure
2760	GM2A	HP:0012547	Abnormal involuntary eye movements
2767	GNA11	HP:0010920	Zonular cataract
2767	GNA11	HP:0100814	Blue nevus
2767	GNA11	HP:0001250	Seizure
2767	GNA11	HP:0001231	Abnormal fingernail morphology
2767	GNA11	HP:0006101	Finger syndactyly
2767	GNA11	HP:0007400	Irregular hyperpigmentation
2767	GNA11	HP:0002516	Increased intracranial pressure
2767	GNA11	HP:0012055	Ciliary body melanoma
2767	GNA11	HP:0012054	Choroidal melanoma
2767	GNA11	HP:0007565	Multiple cafe-au-lait spots
2767	GNA11	HP:0008897	Postnatal growth retardation
2767	GNA11	HP:0000003	Multicystic kidney dysplasia
2767	GNA11	HP:0000006	Autosomal dominant inheritance
2767	GNA11	HP:0002650	Scoliosis
2767	GNA11	HP:0002615	Hypotension
2767	GNA11	HP:0000121	Nephrocalcinosis
2767	GNA11	HP:0002793	Abnormal pattern of respiration
2767	GNA11	HP:0002027	Abdominal pain
2767	GNA11	HP:0100529	Abnormal blood phosphate concentration
2767	GNA11	HP:0100533	Inflammatory abnormality of the eye
2767	GNA11	HP:0100545	Arterial stenosis
2767	GNA11	HP:0100543	Cognitive impairment
2767	GNA11	HP:0100555	Asymmetric growth
2767	GNA11	HP:0003394	Muscle spasm
2767	GNA11	HP:0100585	Telangiectasia of the skin
2767	GNA11	HP:0003473	Fatigable weakness
2767	GNA11	HP:0002150	Hypercalciuria
2767	GNA11	HP:0002135	Basal ganglia calcification
2767	GNA11	HP:0003457	EMG abnormality
2767	GNA11	HP:0008200	Primary hyperparathyroidism
2767	GNA11	HP:0003401	Paresthesia
2767	GNA11	HP:0003581	Adult onset
2767	GNA11	HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption
2767	GNA11	HP:0001012	Multiple lipomas
2767	GNA11	HP:0002356	Writer's cramp
2767	GNA11	HP:0200026	Ocular pain
2767	GNA11	HP:0001098	Abnormal fundus morphology
2767	GNA11	HP:0100627	Displacement of the urethral meatus
2767	GNA11	HP:0200041	Skin erosion
2767	GNA11	HP:0008494	Inferior lens subluxation
2767	GNA11	HP:0000648	Optic atrophy
2767	GNA11	HP:0012608	Hypermagnesiuria
2767	GNA11	HP:0001933	Subcutaneous hemorrhage
2767	GNA11	HP:0003072	Hypercalcemia
2767	GNA11	HP:0004398	Peptic ulcer
2767	GNA11	HP:0004372	Reduced consciousness/confusion
2767	GNA11	HP:0004349	Reduced bone mineral density
2767	GNA11	HP:0100026	Arteriovenous malformation
2767	GNA11	HP:0000739	Anxiety
2767	GNA11	HP:0000716	Depression
2767	GNA11	HP:0000712	Emotional lability
2767	GNA11	HP:0000708	Atypical behavior
2767	GNA11	HP:0011499	Mydriasis
2767	GNA11	HP:0000787	Nephrolithiasis
2767	GNA11	HP:0030786	Photopsia
2767	GNA11	HP:0003127	Hypocalciuria
2767	GNA11	HP:0011524	Iris melanoma
2767	GNA11	HP:0000821	Hypothyroidism
2767	GNA11	HP:0030800	Abnormal visual accommodation
2767	GNA11	HP:0000979	Purpura
2767	GNA11	HP:0000958	Dry skin
2767	GNA11	HP:0000951	Abnormality of the skin
2767	GNA11	HP:0000965	Cutis marmorata
2767	GNA11	HP:0000964	Eczema
2767	GNA11	HP:0000934	Chondrocalcinosis
2767	GNA11	HP:0040148	Cortical myoclonus
2767	GNA11	HP:0008065	Aplasia/Hypoplasia of the skin
2767	GNA11	HP:0011675	Arrhythmia
2767	GNA11	HP:0001597	Abnormality of the nail
2767	GNA11	HP:0001596	Alopecia
2767	GNA11	HP:0002817	Abnormality of the upper limb
2767	GNA11	HP:0002814	Abnormality of the lower limb
2767	GNA11	HP:0006385	Short lower limbs
2767	GNA11	HP:0001541	Ascites
2767	GNA11	HP:0000202	Orofacial cleft
2767	GNA11	HP:0001511	Intrauterine growth retardation
2767	GNA11	HP:0002917	Hypomagnesemia
2767	GNA11	HP:0002918	Hypermagnesemia
2767	GNA11	HP:0002905	Hyperphosphatemia
2767	GNA11	HP:0002901	Hypocalcemia
2767	GNA11	HP:0000347	Micrognathia
2767	GNA11	HP:0001643	Patent ductus arteriosus
2767	GNA11	HP:0001635	Congestive heart failure
2767	GNA11	HP:0007902	Vitreous hemorrhage
2767	GNA11	HP:0007906	Ocular hypertension
2767	GNA11	HP:0005306	Capillary hemangioma
2767	GNA11	HP:0001733	Pancreatitis
2767	GNA11	HP:0001770	Toe syndactyly
2767	GNA11	HP:0012508	Metamorphopsia
2767	GNA11	HP:0000555	Leukocoria
2767	GNA11	HP:0000572	Visual loss
2767	GNA11	HP:0000541	Retinal detachment
2767	GNA11	HP:0000539	Abnormality of refraction
2770	GNAI1	HP:0001182	Tapered finger
2770	GNAI1	HP:0025162	Severe temper tantrums
2770	GNAI1	HP:0001276	Hypertonia
2770	GNAI1	HP:0001250	Seizure
2770	GNAI1	HP:0001252	Hypotonia
2770	GNAI1	HP:0001249	Intellectual disability
2770	GNAI1	HP:0001263	Global developmental delay
2770	GNAI1	HP:0025336	Delayed ability to sit
2770	GNAI1	HP:0001344	Absent speech
2770	GNAI1	HP:0000006	Autosomal dominant inheritance
2770	GNAI1	HP:0012171	Stereotypical hand wringing
2770	GNAI1	HP:0000179	Thick lower lip vermilion
2770	GNAI1	HP:0002069	Bilateral tonic-clonic seizure
2770	GNAI1	HP:0002121	Generalized non-motor (absence) seizure
2770	GNAI1	HP:0011968	Feeding difficulties
2770	GNAI1	HP:0002384	Focal impaired awareness seizure
2770	GNAI1	HP:0010804	Tented upper lip vermilion
2770	GNAI1	HP:0031936	Delayed ability to walk
2770	GNAI1	HP:0000750	Delayed speech and language development
2770	GNAI1	HP:0000729	Autistic behavior
2770	GNAI1	HP:0003196	Short nose
2770	GNAI1	HP:0000219	Thin upper lip vermilion
2770	GNAI1	HP:0001513	Obesity
2770	GNAI1	HP:0000463	Anteverted nares
2770	GNAI1	HP:0001847	Long hallux
2771	GNAI2	HP:0000006	Autosomal dominant inheritance
2771	GNAI2	HP:0001442	Somatic mosaicism
2771	GNAI2	HP:0011712	Right bundle branch block
2771	GNAI2	HP:0004751	Paroxysmal ventricular tachycardia
2771	GNAI2	HP:0003581	Adult onset
2771	GNAI2	HP:0001645	Sudden cardiac death
2771	GNAI2	HP:0001638	Cardiomyopathy
2773	GNAI3	HP:0009902	Cleft helix
2773	GNAI3	HP:0008572	External ear malformation
2773	GNAI3	HP:0009895	Abnormality of the crus of the helix
2773	GNAI3	HP:0008559	Hypoplastic superior helix
2773	GNAI3	HP:0025267	Snoring
2773	GNAI3	HP:0001290	Generalized hypotonia
2773	GNAI3	HP:0001263	Global developmental delay
2773	GNAI3	HP:0008772	Aplasia/Hypoplasia of the external ear
2773	GNAI3	HP:0031013	Ankylosis
2773	GNAI3	HP:0000006	Autosomal dominant inheritance
2773	GNAI3	HP:0000183	Difficulty in tongue movements
2773	GNAI3	HP:0000193	Bifid uvula
2773	GNAI3	HP:0000160	Narrow mouth
2773	GNAI3	HP:0000162	Glossoptosis
2773	GNAI3	HP:0000175	Cleft palate
2773	GNAI3	HP:0000171	Microglossia
2773	GNAI3	HP:0007627	Mandibular condyle aplasia
2773	GNAI3	HP:0007628	Mandibular condyle hypoplasia
2773	GNAI3	HP:0011802	Hamartoma of tongue
2773	GNAI3	HP:0002098	Respiratory distress
2773	GNAI3	HP:0002104	Apnea
2773	GNAI3	HP:0011968	Feeding difficulties
2773	GNAI3	HP:0008537	Cleft at the superior portion of the pinna
2773	GNAI3	HP:0010754	Abnormality of the temporomandibular joint
2773	GNAI3	HP:0009088	Speech articulation difficulties
2773	GNAI3	HP:0000678	Dental crowding
2773	GNAI3	HP:0000689	Dental malocclusion
2773	GNAI3	HP:0009102	Anterior open-bite malocclusion
2773	GNAI3	HP:0004453	Overfolding of the superior helices
2773	GNAI3	HP:0004451	Postauricular skin tag
2773	GNAI3	HP:0030713	Vein of Galen aneurysmal malformation
2773	GNAI3	HP:0100277	Periauricular skin pits
2773	GNAI3	HP:0000293	Full cheeks
2773	GNAI3	HP:0000256	Macrocephaly
2773	GNAI3	HP:0002870	Obstructive sleep apnea
2773	GNAI3	HP:0030022	Question mark ear
2773	GNAI3	HP:0000384	Preauricular skin tag
2773	GNAI3	HP:0000378	Cupped ear
2773	GNAI3	HP:0000377	Abnormal pinna morphology
2773	GNAI3	HP:0005216	Impaired mastication
2773	GNAI3	HP:0000365	Hearing impairment
2773	GNAI3	HP:0000358	Posteriorly rotated ears
2773	GNAI3	HP:0000369	Low-set ears
2773	GNAI3	HP:0000368	Low-set, posteriorly rotated ears
2773	GNAI3	HP:0000347	Micrognathia
2773	GNAI3	HP:0000311	Round face
2773	GNAI3	HP:0000324	Facial asymmetry
2773	GNAI3	HP:0000402	Stenosis of the external auditory canal
2773	GNAI3	HP:0000508	Ptosis
2774	GNAL	HP:0002451	Limb dystonia
2774	GNAL	HP:0002530	Axial dystonia
2774	GNAL	HP:0031008	Lingual dystonia
2774	GNAL	HP:0012049	Laryngeal dystonia
2774	GNAL	HP:0000006	Autosomal dominant inheritance
2774	GNAL	HP:0012179	Craniofacial dystonia
2774	GNAL	HP:0003581	Adult onset
2774	GNAL	HP:0003621	Juvenile onset
2774	GNAL	HP:0004373	Focal dystonia
2774	GNAL	HP:0001618	Dysphonia
2774	GNAL	HP:0000473	Torticollis
2775	GNAO1	HP:0002487	Hyperkinetic movements
2775	GNAO1	HP:0010864	Intellectual disability, severe
2775	GNAO1	HP:0010851	EEG with burst suppression
2775	GNAO1	HP:0010850	EEG with spike-wave complexes
2775	GNAO1	HP:0002421	Poor head control
2775	GNAO1	HP:0001290	Generalized hypotonia
2775	GNAO1	HP:0001272	Cerebellar atrophy
2775	GNAO1	HP:0001250	Seizure
2775	GNAO1	HP:0001249	Intellectual disability
2775	GNAO1	HP:0001266	Choreoathetosis
2775	GNAO1	HP:0001263	Global developmental delay
2775	GNAO1	HP:0001257	Spasticity
2775	GNAO1	HP:0007366	Atrophy/Degeneration affecting the brainstem
2775	GNAO1	HP:0007359	Focal-onset seizure
2775	GNAO1	HP:0002521	Hypsarrhythmia
2775	GNAO1	HP:0002506	Diffuse cerebral atrophy
2775	GNAO1	HP:0000070	Ureterocele
2775	GNAO1	HP:0000054	Micropenis
2775	GNAO1	HP:0001332	Dystonia
2775	GNAO1	HP:0001344	Absent speech
2775	GNAO1	HP:0001337	Tremor
2775	GNAO1	HP:0000006	Autosomal dominant inheritance
2775	GNAO1	HP:0001336	Myoclonus
2775	GNAO1	HP:0001302	Pachygyria
2775	GNAO1	HP:0000175	Cleft palate
2775	GNAO1	HP:0008947	Infantile muscular hypotonia
2775	GNAO1	HP:0000110	Renal dysplasia
2775	GNAO1	HP:0002015	Dysphagia
2775	GNAO1	HP:0002069	Bilateral tonic-clonic seizure
2775	GNAO1	HP:0002079	Hypoplasia of the corpus callosum
2775	GNAO1	HP:0002072	Chorea
2775	GNAO1	HP:0002059	Cerebral atrophy
2775	GNAO1	HP:0002121	Generalized non-motor (absence) seizure
2775	GNAO1	HP:0002119	Ventriculomegaly
2775	GNAO1	HP:0002131	Episodic ataxia
2775	GNAO1	HP:0002188	Delayed CNS myelination
2775	GNAO1	HP:0003593	Infantile onset
2775	GNAO1	HP:0100716	Self-injurious behavior
2775	GNAO1	HP:0200134	Epileptic encephalopathy
2775	GNAO1	HP:0002384	Focal impaired awareness seizure
2775	GNAO1	HP:0002360	Sleep disturbance
2775	GNAO1	HP:0002376	Developmental regression
2775	GNAO1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2775	GNAO1	HP:0002353	EEG abnormality
2775	GNAO1	HP:0010841	Multifocal epileptiform discharges
2775	GNAO1	HP:0007204	Diffuse white matter abnormalities
2775	GNAO1	HP:0100660	Dyskinesia
2775	GNAO1	HP:0010819	Atonic seizure
2775	GNAO1	HP:0010818	Generalized tonic seizure
2775	GNAO1	HP:0003623	Neonatal onset
2775	GNAO1	HP:0002310	Orofacial dyskinesia
2775	GNAO1	HP:0002305	Athetosis
2775	GNAO1	HP:0004305	Involuntary movements
2775	GNAO1	HP:0000752	Hyperactivity
2775	GNAO1	HP:0000729	Autistic behavior
2775	GNAO1	HP:0010174	Broad phalanx of the toes
2775	GNAO1	HP:0000826	Precocious puberty
2775	GNAO1	HP:0009381	Short finger
2775	GNAO1	HP:0000252	Microcephaly
2775	GNAO1	HP:0001537	Umbilical hernia
2775	GNAO1	HP:0001508	Failure to thrive
2775	GNAO1	HP:0001500	Broad finger
2775	GNAO1	HP:0000340	Sloping forehead
2775	GNAO1	HP:0001629	Ventricular septal defect
2775	GNAO1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
2775	GNAO1	HP:0011169	Generalized clonic seizure
2775	GNAO1	HP:0005280	Depressed nasal bridge
2775	GNAO1	HP:0000486	Strabismus
2775	GNAO1	HP:0012469	Infantile spasms
2775	GNAO1	HP:0000463	Anteverted nares
2775	GNAO1	HP:0012448	Delayed myelination
2775	GNAO1	HP:0012554	Absent thumbnail
2776	GNAQ	HP:0001131	Corneal dystrophy
2776	GNAQ	HP:0010920	Zonular cataract
2776	GNAQ	HP:0003745	Sporadic
2776	GNAQ	HP:0001100	Heterochromia iridis
2776	GNAQ	HP:0001297	Stroke
2776	GNAQ	HP:0001291	Abnormal cranial nerve morphology
2776	GNAQ	HP:0001269	Hemiparesis
2776	GNAQ	HP:0001250	Seizure
2776	GNAQ	HP:0001249	Intellectual disability
2776	GNAQ	HP:0007400	Irregular hyperpigmentation
2776	GNAQ	HP:0002514	Cerebral calcification
2776	GNAQ	HP:0012055	Ciliary body melanoma
2776	GNAQ	HP:0012054	Choroidal melanoma
2776	GNAQ	HP:0001347	Hyperreflexia
2776	GNAQ	HP:0000006	Autosomal dominant inheritance
2776	GNAQ	HP:0002650	Scoliosis
2776	GNAQ	HP:0002015	Dysphagia
2776	GNAQ	HP:0100533	Inflammatory abnormality of the eye
2776	GNAQ	HP:0100559	Lower limb asymmetry
2776	GNAQ	HP:0002120	Cerebral cortical atrophy
2776	GNAQ	HP:0002167	Abnormality of speech or vocalization
2776	GNAQ	HP:0002170	Intracranial hemorrhage
2776	GNAQ	HP:0002204	Pulmonary embolism
2776	GNAQ	HP:0100774	Hyperostosis
2776	GNAQ	HP:0100761	Visceral angiomatosis
2776	GNAQ	HP:0007018	Attention deficit hyperactivity disorder
2776	GNAQ	HP:0001052	Nevus flammeus
2776	GNAQ	HP:0001034	Hypermelanotic macule
2776	GNAQ	HP:0200026	Ocular pain
2776	GNAQ	HP:0100659	Abnormal cerebral vascular morphology
2776	GNAQ	HP:0200034	Papule
2776	GNAQ	HP:0001098	Abnormal fundus morphology
2776	GNAQ	HP:0200042	Skin ulcer
2776	GNAQ	HP:0008494	Inferior lens subluxation
2776	GNAQ	HP:0002301	Hemiplegia
2776	GNAQ	HP:0002308	Chiari malformation
2776	GNAQ	HP:0004936	Venous thrombosis
2776	GNAQ	HP:0000648	Optic atrophy
2776	GNAQ	HP:0000618	Blindness
2776	GNAQ	HP:0000612	Iris coloboma
2776	GNAQ	HP:0000610	Abnormal choroid morphology
2776	GNAQ	HP:0100026	Arteriovenous malformation
2776	GNAQ	HP:0000729	Autistic behavior
2776	GNAQ	HP:0000708	Atypical behavior
2776	GNAQ	HP:0011499	Mydriasis
2776	GNAQ	HP:0030786	Photopsia
2776	GNAQ	HP:0011524	Iris melanoma
2776	GNAQ	HP:0030800	Abnormal visual accommodation
2776	GNAQ	HP:0000969	Edema
2776	GNAQ	HP:0008046	Abnormal retinal vascular morphology
2776	GNAQ	HP:0011675	Arrhythmia
2776	GNAQ	HP:0000256	Macrocephaly
2776	GNAQ	HP:0002817	Abnormality of the upper limb
2776	GNAQ	HP:0002814	Abnormality of the lower limb
2776	GNAQ	HP:0000238	Hydrocephalus
2776	GNAQ	HP:0012222	Arachnoid hemangiomatosis
2776	GNAQ	HP:0000212	Gingival overgrowth
2776	GNAQ	HP:0012377	Hemianopia
2776	GNAQ	HP:0007872	Choroidal hemangioma
2776	GNAQ	HP:0000364	Hearing abnormality
2776	GNAQ	HP:0000329	Facial hemangioma
2776	GNAQ	HP:0007902	Vitreous hemorrhage
2776	GNAQ	HP:0007906	Ocular hypertension
2776	GNAQ	HP:0005306	Capillary hemangioma
2776	GNAQ	HP:0005293	Venous insufficiency
2776	GNAQ	HP:0000486	Strabismus
2776	GNAQ	HP:0000478	Abnormality of the eye
2776	GNAQ	HP:0000496	Abnormality of eye movement
2776	GNAQ	HP:0012508	Metamorphopsia
2776	GNAQ	HP:0000524	Conjunctival telangiectasia
2776	GNAQ	HP:0000504	Abnormality of vision
2776	GNAQ	HP:0000501	Glaucoma
2776	GNAQ	HP:0000557	Buphthalmos
2776	GNAQ	HP:0000572	Visual loss
2776	GNAQ	HP:0000541	Retinal detachment
2776	GNAQ	HP:0000539	Abnormality of refraction
2778	GNAS	HP:0001156	Brachydactyly
2778	GNAS	HP:0003745	Sporadic
2778	GNAS	HP:0003761	Calcinosis
2778	GNAS	HP:0003739	Myoclonic spasms
2778	GNAS	HP:0003701	Proximal muscle weakness
2778	GNAS	HP:0001268	Mental deterioration
2778	GNAS	HP:0001289	Confusion
2778	GNAS	HP:0001250	Seizure
2778	GNAS	HP:0001249	Intellectual disability
2778	GNAS	HP:0001265	Hyporeflexia
2778	GNAS	HP:0001266	Choreoathetosis
2778	GNAS	HP:0002591	Polyphagia
2778	GNAS	HP:0008768	Inappropriate sexual behavior
2778	GNAS	HP:0031072	Abnormal endocrine physiology
2778	GNAS	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test
2778	GNAS	HP:0002514	Cerebral calcification
2778	GNAS	HP:0031013	Ankylosis
2778	GNAS	HP:0025383	Dorsocervical fat pad
2778	GNAS	HP:0012063	Aneurysmal bone cyst
2778	GNAS	HP:0001397	Hepatic steatosis
2778	GNAS	HP:0001396	Cholestasis
2778	GNAS	HP:0012049	Laryngeal dystonia
2778	GNAS	HP:0001376	Limitation of joint mobility
2778	GNAS	HP:0012028	Hepatocellular adenoma
2778	GNAS	HP:0012030	Increased urinary cortisol level
2778	GNAS	HP:0000053	Macroorchidism
2778	GNAS	HP:0002684	Thickened calvaria
2778	GNAS	HP:0000035	Abnormal testis morphology
2778	GNAS	HP:0002693	Abnormality of the skull base
2778	GNAS	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses
2778	GNAS	HP:0002664	Neoplasm
2778	GNAS	HP:0002659	Increased susceptibility to fractures
2778	GNAS	HP:0000006	Autosomal dominant inheritance
2778	GNAS	HP:0002652	Skeletal dysplasia
2778	GNAS	HP:0002653	Bone pain
2778	GNAS	HP:0002650	Scoliosis
2778	GNAS	HP:0033794	Acral overgrowth
2778	GNAS	HP:0012185	Constrictive median neuropathy
2778	GNAS	HP:0000144	Decreased fertility
2778	GNAS	HP:0000135	Hypogonadism
2778	GNAS	HP:0000138	Ovarian cyst
2778	GNAS	HP:0001482	Subcutaneous nodule
2778	GNAS	HP:0012115	Hepatitis
2778	GNAS	HP:0006297	Enamel hypoplasia
2778	GNAS	HP:0500011	Moon facies
2778	GNAS	HP:0000117	Renal phosphate wasting
2778	GNAS	HP:0000124	Renal tubular dysfunction
2778	GNAS	HP:0002757	Recurrent fractures
2778	GNAS	HP:0002758	Osteoarthritis
2778	GNAS	HP:0001428	Somatic mutation
2778	GNAS	HP:0002756	Pathologic fracture
2778	GNAS	HP:0001442	Somatic mosaicism
2778	GNAS	HP:0002749	Osteomalacia
2778	GNAS	HP:0002020	Gastroesophageal reflux
2778	GNAS	HP:0100543	Cognitive impairment
2778	GNAS	HP:0002094	Dyspnea
2778	GNAS	HP:0003394	Muscle spasm
2778	GNAS	HP:0003472	Hypocalcemic tetany
2778	GNAS	HP:0002148	Hypophosphatemia
2778	GNAS	HP:0003456	Low urinary cyclic AMP response to PTH administration
2778	GNAS	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
2778	GNAS	HP:0002135	Basal ganglia calcification
2778	GNAS	HP:0002199	Hypocalcemic seizures
2778	GNAS	HP:0002176	Spinal cord compression
2778	GNAS	HP:0008231	Macronodular adrenal hyperplasia
2778	GNAS	HP:0011869	Abnormal platelet function
2778	GNAS	HP:0008221	Adrenal hyperplasia
2778	GNAS	HP:0008227	Pituitary resistance to thyroid hormone
2778	GNAS	HP:0008200	Primary hyperparathyroidism
2778	GNAS	HP:0008202	Reduced circulating prolactin concentration
2778	GNAS	HP:0011821	Abnormal facial skeleton morphology
2778	GNAS	HP:0003401	Paresthesia
2778	GNAS	HP:0004704	Short fifth metatarsal
2778	GNAS	HP:0003593	Infantile onset
2778	GNAS	HP:0003581	Adult onset
2778	GNAS	HP:0003528	Elevated calcitonin
2778	GNAS	HP:0100749	Chest pain
2778	GNAS	HP:0100754	Mania
2778	GNAS	HP:0011986	Ectopic ossification
2778	GNAS	HP:0011987	Ectopic ossification in muscle tissue
2778	GNAS	HP:0009650	Short distal phalanx of the thumb
2778	GNAS	HP:0009642	Broad distal phalanx of the thumb
2778	GNAS	HP:0025027	Osteoma cutis
2778	GNAS	HP:0001050	Plethora
2778	GNAS	HP:0001065	Striae distensae
2778	GNAS	HP:0001061	Acne
2778	GNAS	HP:0001034	Hypermelanotic macule
2778	GNAS	HP:0003676	Progressive
2778	GNAS	HP:0001007	Hirsutism
2778	GNAS	HP:0002354	Memory impairment
2778	GNAS	HP:0100660	Dyskinesia
2778	GNAS	HP:0200034	Papule
2778	GNAS	HP:0009826	Limb undergrowth
2778	GNAS	HP:0200008	Intestinal polyposis
2778	GNAS	HP:0100634	Neuroendocrine neoplasm
2778	GNAS	HP:0020110	Bone fracture
2778	GNAS	HP:0010791	Hyperplasia of the Leydig cells
2778	GNAS	HP:0010766	Ectopic calcification
2778	GNAS	HP:0007126	Proximal amyotrophy
2778	GNAS	HP:0010743	Short metatarsal
2778	GNAS	HP:0010736	Monostotic fibrous dysplasia
2778	GNAS	HP:0010735	Polyostotic fibrous dysplasia
2778	GNAS	HP:0010734	Fibrous dysplasia of the bones
2778	GNAS	HP:0003621	Juvenile onset
2778	GNAS	HP:0005528	Bone marrow hypocellularity
2778	GNAS	HP:0031845	Abnormal libido
2778	GNAS	HP:0005584	Renal cell carcinoma
2778	GNAS	HP:0000639	Nystagmus
2778	GNAS	HP:0000618	Blindness
2778	GNAS	HP:0001956	Truncal obesity
2778	GNAS	HP:0001952	Glucose intolerance
2778	GNAS	HP:0004180	Short distal phalanx of the 3rd finger
2778	GNAS	HP:0010049	Short metacarpal
2778	GNAS	HP:0010047	Short 5th metacarpal
2778	GNAS	HP:0010041	Short 3rd metacarpal
2778	GNAS	HP:0010044	Short 4th metacarpal
2778	GNAS	HP:0010027	Broad 1st metacarpal
2778	GNAS	HP:0000684	Delayed eruption of teeth
2778	GNAS	HP:0000689	Dental malocclusion
2778	GNAS	HP:0004324	Increased body weight
2778	GNAS	HP:0004322	Short stature
2778	GNAS	HP:0003002	Breast carcinoma
2778	GNAS	HP:0006960	Choroid plexus calcification
2778	GNAS	HP:0004305	Involuntary movements
2778	GNAS	HP:0005605	Large cafe-au-lait macules with irregular margins
2778	GNAS	HP:0005616	Accelerated skeletal maturation
2778	GNAS	HP:0003077	Hyperlipidemia
2778	GNAS	HP:0003034	Diaphyseal sclerosis
2778	GNAS	HP:0004349	Reduced bone mineral density
2778	GNAS	HP:0012743	Abdominal obesity
2778	GNAS	HP:0012733	Macule
2778	GNAS	HP:0000737	Irritability
2778	GNAS	HP:0000739	Anxiety
2778	GNAS	HP:0000750	Delayed speech and language development
2778	GNAS	HP:0000716	Depression
2778	GNAS	HP:0000712	Emotional lability
2778	GNAS	HP:0000713	Agitation
2778	GNAS	HP:0000725	Psychotic episodes
2778	GNAS	HP:0000709	Psychosis
2778	GNAS	HP:0011458	Abdominal symptom
2778	GNAS	HP:0000787	Nephrolithiasis
2778	GNAS	HP:0003109	Hyperphosphaturia
2778	GNAS	HP:0004438	Hyperostosis frontalis interna
2778	GNAS	HP:0003118	Increased circulating cortisol level
2778	GNAS	HP:0000924	Abnormality of the skeletal system
2778	GNAS	HP:0034282	Subcutaneous ossification
2778	GNAS	HP:0003165	Elevated circulating parathyroid hormone level
2778	GNAS	HP:0004493	Craniofacial hyperostosis
2778	GNAS	HP:0000876	Oligomenorrhea
2778	GNAS	HP:0000859	Hyperaldosteronism
2778	GNAS	HP:0000858	Irregular menstruation
2778	GNAS	HP:0000853	Goiter
2778	GNAS	HP:0000852	Pseudohypoparathyroidism
2778	GNAS	HP:0000870	Increased circulating prolactin concentration
2778	GNAS	HP:0000836	Hyperthyroidism
2778	GNAS	HP:0000843	Hyperparathyroidism
2778	GNAS	HP:0000845	Elevated circulating growth hormone concentration
2778	GNAS	HP:0000818	Abnormality of the endocrine system
2778	GNAS	HP:0000815	Hypergonadotropic hypogonadism
2778	GNAS	HP:0000826	Precocious puberty
2778	GNAS	HP:0000828	Abnormality of the parathyroid gland
2778	GNAS	HP:0000822	Hypertension
2778	GNAS	HP:0000821	Hypothyroidism
2778	GNAS	HP:0000824	Decreased response to growth hormone stimulation test
2778	GNAS	HP:0000820	Abnormality of the thyroid gland
2778	GNAS	HP:0005700	Increased bone density with cystic changes
2778	GNAS	HP:0009237	Short 5th finger
2778	GNAS	HP:0003202	Skeletal muscle atrophy
2778	GNAS	HP:0000978	Bruising susceptibility
2778	GNAS	HP:0000963	Thin skin
2778	GNAS	HP:0000939	Osteoporosis
2778	GNAS	HP:0000938	Osteopenia
2778	GNAS	HP:0100242	Sarcoma
2778	GNAS	HP:0009381	Short finger
2778	GNAS	HP:0000293	Full cheeks
2778	GNAS	HP:0001596	Alopecia
2778	GNAS	HP:0000271	Abnormality of the face
2778	GNAS	HP:0030057	Autoimmune antibody positivity
2778	GNAS	HP:0002823	Abnormality of femur morphology
2778	GNAS	HP:0030088	Increased serum testosterone level
2778	GNAS	HP:0002808	Kyphosis
2778	GNAS	HP:0001579	Primary hypercortisolism
2778	GNAS	HP:0002893	Pituitary adenoma
2778	GNAS	HP:0002858	Meningioma
2778	GNAS	HP:0001507	Growth abnormality
2778	GNAS	HP:0001511	Intrauterine growth retardation
2778	GNAS	HP:0001513	Obesity
2778	GNAS	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
2778	GNAS	HP:0002920	Decreased circulating ACTH level
2778	GNAS	HP:0002905	Hyperphosphatemia
2778	GNAS	HP:0002901	Hypocalcemia
2778	GNAS	HP:0000365	Hearing impairment
2778	GNAS	HP:0011001	Increased bone mineral density
2778	GNAS	HP:0000311	Round face
2778	GNAS	HP:0001657	Prolonged QT interval
2778	GNAS	HP:0000324	Facial asymmetry
2778	GNAS	HP:0000407	Sensorineural hearing impairment
2778	GNAS	HP:0001733	Pancreatitis
2778	GNAS	HP:0005280	Depressed nasal bridge
2778	GNAS	HP:0000486	Strabismus
2778	GNAS	HP:0000470	Short neck
2778	GNAS	HP:0001742	Nasal congestion
2778	GNAS	HP:0006719	Benign gastrointestinal tract tumors
2778	GNAS	HP:0030428	Cutaneous myxoma
2778	GNAS	HP:0000518	Cataract
2778	GNAS	HP:0000509	Conjunctivitis
2778	GNAS	HP:0001831	Short toe
2778	GNAS	HP:0000585	Band keratopathy
2778	GNAS	HP:0000572	Visual loss
2778	GNAS	HP:0001876	Pancytopenia
2779	GNAT1	HP:0001133	Constriction of peripheral visual field
2779	GNAT1	HP:0000007	Autosomal recessive inheritance
2779	GNAT1	HP:0000006	Autosomal dominant inheritance
2779	GNAT1	HP:0007663	Reduced visual acuity
2779	GNAT1	HP:0007642	Congenital stationary night blindness
2779	GNAT1	HP:0000639	Nystagmus
2779	GNAT1	HP:0030469	Abnormal dark-adapted electroretinogram
2779	GNAT1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
2779	GNAT1	HP:0000662	Nyctalopia
2779	GNAT1	HP:0030639	Congenital stationary night blindness with abnormal fundus
2779	GNAT1	HP:0030638	Congenital stationary night blindness with normal fundus
2779	GNAT1	HP:0007703	Abnormality of retinal pigmentation
2779	GNAT1	HP:0030329	Retinal thinning
2779	GNAT1	HP:0007984	Electronegative electroretinogram
2779	GNAT1	HP:0000486	Strabismus
2779	GNAT1	HP:0031705	Compensatory head posture
2779	GNAT1	HP:0000510	Rod-cone dystrophy
2779	GNAT1	HP:0000505	Visual impairment
2779	GNAT1	HP:0000540	Hypermetropia
2779	GNAT1	HP:0000551	Color vision defect
2779	GNAT1	HP:0000543	Optic disc pallor
2779	GNAT1	HP:0000545	Myopia
2780	GNAT2	HP:0001103	Abnormal macular morphology
2780	GNAT2	HP:0012043	Pendular nystagmus
2780	GNAT2	HP:0000007	Autosomal recessive inheritance
2780	GNAT2	HP:0007663	Reduced visual acuity
2780	GNAT2	HP:0000639	Nystagmus
2780	GNAT2	HP:0000613	Photophobia
2780	GNAT2	HP:0000603	Central scotoma
2780	GNAT2	HP:0030465	Undetectable light-adapted electroretinogram
2780	GNAT2	HP:0030620	Inner retinal layer loss on macular OCT
2780	GNAT2	HP:0030584	Color vision test abnormality
2780	GNAT2	HP:0011516	Achromatopsia
2780	GNAT2	HP:0030825	Absent foveal reflex
2780	GNAT2	HP:0007722	Retinal pigment epithelial atrophy
2780	GNAT2	HP:0007703	Abnormality of retinal pigmentation
2780	GNAT2	HP:0025549	Eccentric visual fixation
2780	GNAT2	HP:0007750	Hypoplasia of the fovea
2780	GNAT2	HP:0007695	Abnormal pupillary light reflex
2780	GNAT2	HP:0007843	Attenuation of retinal blood vessels
2780	GNAT2	HP:0007814	Retinal pigment epithelial mottling
2780	GNAT2	HP:0007803	Monochromacy
2780	GNAT2	HP:0000512	Abnormal electroretinogram
2780	GNAT2	HP:0000505	Visual impairment
2780	GNAT2	HP:0000540	Hypermetropia
2780	GNAT2	HP:0000539	Abnormality of refraction
2780	GNAT2	HP:0000551	Color vision defect
2780	GNAT2	HP:0000545	Myopia
2782	GNB1	HP:0001188	Hand clenching
2782	GNB1	HP:0001182	Tapered finger
2782	GNB1	HP:0001181	Adducted thumb
2782	GNB1	HP:0002474	Expressive language delay
2782	GNB1	HP:0002451	Limb dystonia
2782	GNB1	HP:0010851	EEG with burst suppression
2782	GNB1	HP:0001290	Generalized hypotonia
2782	GNB1	HP:0001250	Seizure
2782	GNB1	HP:0001252	Hypotonia
2782	GNB1	HP:0001249	Intellectual disability
2782	GNB1	HP:0001263	Global developmental delay
2782	GNB1	HP:0007359	Focal-onset seizure
2782	GNB1	HP:0010982	Polygenic inheritance
2782	GNB1	HP:0007340	Lower limb muscle weakness
2782	GNB1	HP:0002540	Inability to walk
2782	GNB1	HP:0002521	Hypsarrhythmia
2782	GNB1	HP:0002509	Limb hypertonia
2782	GNB1	HP:0000074	Ureteropelvic junction obstruction
2782	GNB1	HP:0001377	Limited elbow extension
2782	GNB1	HP:0001382	Joint hypermobility
2782	GNB1	HP:0012018	EEG with temporal focal spikes
2782	GNB1	HP:0001347	Hyperreflexia
2782	GNB1	HP:0001332	Dystonia
2782	GNB1	HP:0000011	Neurogenic bladder
2782	GNB1	HP:0000006	Autosomal dominant inheritance
2782	GNB1	HP:0001336	Myoclonus
2782	GNB1	HP:0000175	Cleft palate
2782	GNB1	HP:0008947	Infantile muscular hypotonia
2782	GNB1	HP:0000126	Hydronephrosis
2782	GNB1	HP:0001428	Somatic mutation
2782	GNB1	HP:0002015	Dysphagia
2782	GNB1	HP:0002099	Asthma
2782	GNB1	HP:0002069	Bilateral tonic-clonic seizure
2782	GNB1	HP:0002121	Generalized non-motor (absence) seizure
2782	GNB1	HP:0002133	Status epilepticus
2782	GNB1	HP:0002126	Polymicrogyria
2782	GNB1	HP:0003593	Infantile onset
2782	GNB1	HP:0100704	Cerebral visual impairment
2782	GNB1	HP:0002283	Global brain atrophy
2782	GNB1	HP:0007018	Attention deficit hyperactivity disorder
2782	GNB1	HP:0011968	Feeding difficulties
2782	GNB1	HP:0002384	Focal impaired awareness seizure
2782	GNB1	HP:0002376	Developmental regression
2782	GNB1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2782	GNB1	HP:0002353	EEG abnormality
2782	GNB1	HP:0010841	Multifocal epileptiform discharges
2782	GNB1	HP:0010819	Atonic seizure
2782	GNB1	HP:0010818	Generalized tonic seizure
2782	GNB1	HP:0002301	Hemiplegia
2782	GNB1	HP:0006813	Focal hemiclonic seizure
2782	GNB1	HP:0004283	Narrow palm
2782	GNB1	HP:0000639	Nystagmus
2782	GNB1	HP:0000617	Abnormality of ocular smooth pursuit
2782	GNB1	HP:0009062	Infantile axial hypotonia
2782	GNB1	HP:0011352	Severe receptive language delay
2782	GNB1	HP:0100021	Cerebral palsy
2782	GNB1	HP:0000767	Pectus excavatum
2782	GNB1	HP:0100035	Phonic tics
2782	GNB1	HP:0100034	Motor tics
2782	GNB1	HP:0000739	Anxiety
2782	GNB1	HP:0000750	Delayed speech and language development
2782	GNB1	HP:0000718	Aggressive behavior
2782	GNB1	HP:0000717	Autism
2782	GNB1	HP:0000851	Congenital hypothyroidism
2782	GNB1	HP:0010307	Stridor
2782	GNB1	HP:0000256	Macrocephaly
2782	GNB1	HP:0007772	Impaired smooth pursuit
2782	GNB1	HP:0000252	Microcephaly
2782	GNB1	HP:0000218	High palate
2782	GNB1	HP:0002863	Myelodysplasia
2782	GNB1	HP:0001508	Failure to thrive
2782	GNB1	HP:0001510	Growth delay
2782	GNB1	HP:0000396	Overfolded helix
2782	GNB1	HP:0000358	Posteriorly rotated ears
2782	GNB1	HP:0032792	Tonic seizure
2782	GNB1	HP:0032794	Myoclonic seizure
2782	GNB1	HP:0000322	Short philtrum
2782	GNB1	HP:0011198	EEG with generalized epileptiform discharges
2782	GNB1	HP:0000407	Sensorineural hearing impairment
2782	GNB1	HP:0000486	Strabismus
2782	GNB1	HP:0012469	Infantile spasms
2782	GNB1	HP:0012448	Delayed myelination
2782	GNB1	HP:0001763	Pes planus
2782	GNB1	HP:0006721	Acute lymphoblastic leukemia
2782	GNB1	HP:0011289	EEG with temporal sharp slow waves
2782	GNB1	HP:0005490	Postnatal macrocephaly
2782	GNB1	HP:0000577	Exotropia
2782	GNB1	HP:0011210	EEG with occipital slowing
2782	GNB1	HP:0000565	Esotropia
2783	GNB2	HP:0001187	Hyperextensibility of the finger joints
2783	GNB2	HP:0001182	Tapered finger
2783	GNB2	HP:0010943	Echogenic fetal bowel
2783	GNB2	HP:0001195	Single umbilical artery
2783	GNB2	HP:0009890	High anterior hairline
2783	GNB2	HP:0003763	Bruxism
2783	GNB2	HP:0003758	Reduced subcutaneous adipose tissue
2783	GNB2	HP:0001290	Generalized hypotonia
2783	GNB2	HP:0001279	Syncope
2783	GNB2	HP:0001250	Seizure
2783	GNB2	HP:0001252	Hypotonia
2783	GNB2	HP:0001249	Intellectual disability
2783	GNB2	HP:0001263	Global developmental delay
2783	GNB2	HP:0001238	Slender finger
2783	GNB2	HP:0007429	Few cafe-au-lait spots
2783	GNB2	HP:0002527	Falls
2783	GNB2	HP:0001397	Hepatic steatosis
2783	GNB2	HP:0001396	Cholestasis
2783	GNB2	HP:0025352	Typically de novo
2783	GNB2	HP:0001371	Flexion contracture
2783	GNB2	HP:0001386	Joint swelling
2783	GNB2	HP:0000054	Micropenis
2783	GNB2	HP:0001388	Joint laxity
2783	GNB2	HP:0000023	Inguinal hernia
2783	GNB2	HP:0001347	Hyperreflexia
2783	GNB2	HP:0000028	Cryptorchidism
2783	GNB2	HP:0012095	Multiple joint dislocation
2783	GNB2	HP:0000012	Urinary urgency
2783	GNB2	HP:0000006	Autosomal dominant inheritance
2783	GNB2	HP:0002643	Neonatal respiratory distress
2783	GNB2	HP:0000185	Cleft soft palate
2783	GNB2	HP:0012172	Stereotypical body rocking
2783	GNB2	HP:0000160	Narrow mouth
2783	GNB2	HP:0000154	Wide mouth
2783	GNB2	HP:0006349	Agenesis of permanent teeth
2783	GNB2	HP:0006297	Enamel hypoplasia
2783	GNB2	HP:0000122	Unilateral renal agenesis
2783	GNB2	HP:0000125	Pelvic kidney
2783	GNB2	HP:0001433	Hepatosplenomegaly
2783	GNB2	HP:0001409	Portal hypertension
2783	GNB2	HP:0002714	Downturned corners of mouth
2783	GNB2	HP:0002033	Poor suck
2783	GNB2	HP:0002003	Large forehead
2783	GNB2	HP:0002002	Deep philtrum
2783	GNB2	HP:0005990	Thyroid hypoplasia
2783	GNB2	HP:0002015	Dysphagia
2783	GNB2	HP:0002007	Frontal bossing
2783	GNB2	HP:0003307	Hyperlordosis
2783	GNB2	HP:0002099	Asthma
2783	GNB2	HP:0002040	Esophageal varix
2783	GNB2	HP:0040288	Nasogastric tube feeding
2783	GNB2	HP:0003477	Peripheral axonal neuropathy
2783	GNB2	HP:0002140	Ischemic stroke
2783	GNB2	HP:0002119	Ventriculomegaly
2783	GNB2	HP:0002136	Broad-based gait
2783	GNB2	HP:0004757	Paroxysmal atrial fibrillation
2783	GNB2	HP:0002104	Apnea
2783	GNB2	HP:0011914	Thoracic hypertrichosis
2783	GNB2	HP:0002188	Delayed CNS myelination
2783	GNB2	HP:0003593	Infantile onset
2783	GNB2	HP:0100710	Impulsivity
2783	GNB2	HP:0002212	Curly hair
2783	GNB2	HP:0002209	Sparse scalp hair
2783	GNB2	HP:0011968	Feeding difficulties
2783	GNB2	HP:0002384	Focal impaired awareness seizure
2783	GNB2	HP:0001047	Atopic dermatitis
2783	GNB2	HP:0001041	Facial erythema
2783	GNB2	HP:0001007	Hirsutism
2783	GNB2	HP:0001025	Urticaria
2783	GNB2	HP:0002353	EEG abnormality
2783	GNB2	HP:0002315	Headache
2783	GNB2	HP:0010819	Atonic seizure
2783	GNB2	HP:0025074	Abnormal QRS complex
2783	GNB2	HP:0010783	Erythema
2783	GNB2	HP:0032152	Keratosis pilaris
2783	GNB2	HP:0010747	Medial flaring of the eyebrow
2783	GNB2	HP:0004209	Clinodactyly of the 5th finger
2783	GNB2	HP:0006837	Congenital Horner syndrome
2783	GNB2	HP:0004220	Short middle phalanx of the 5th finger
2783	GNB2	HP:0000637	Long palpebral fissure
2783	GNB2	HP:0000601	Hypotelorism
2783	GNB2	HP:0000684	Delayed eruption of teeth
2783	GNB2	HP:0011342	Mild global developmental delay
2783	GNB2	HP:0009027	Foot dorsiflexor weakness
2783	GNB2	HP:0000678	Dental crowding
2783	GNB2	HP:0000664	Synophrys
2783	GNB2	HP:0004383	Hypoplastic left heart
2783	GNB2	HP:0031909	Unicornuate uterus
2783	GNB2	HP:0031935	Ascending aorta hypoplasia
2783	GNB2	HP:0012723	Sinoatrial block
2783	GNB2	HP:0000750	Delayed speech and language development
2783	GNB2	HP:0000744	Low frustration tolerance
2783	GNB2	HP:0000729	Autistic behavior
2783	GNB2	HP:0011463	Childhood onset
2783	GNB2	HP:0009110	Diaphragmatic eventration
2783	GNB2	HP:0003196	Short nose
2783	GNB2	HP:0000824	Decreased response to growth hormone stimulation test
2783	GNB2	HP:0011560	Mitral atresia
2783	GNB2	HP:0030891	Periventricular white matter hyperintensities
2783	GNB2	HP:0003273	Hip contracture
2783	GNB2	HP:0000973	Cutis laxa
2783	GNB2	HP:0011623	Muscular ventricular septal defect
2783	GNB2	HP:0000958	Dry skin
2783	GNB2	HP:0000954	Single transverse palmar crease
2783	GNB2	HP:0000960	Sacral dimple
2783	GNB2	HP:0008081	Pes valgus
2783	GNB2	HP:0008064	Ichthyosis
2783	GNB2	HP:0040189	Scaling skin
2783	GNB2	HP:0000293	Full cheeks
2783	GNB2	HP:0000256	Macrocephaly
2783	GNB2	HP:0000268	Dolichocephaly
2783	GNB2	HP:0002829	Arthralgia
2783	GNB2	HP:0002804	Arthrogryposis multiplex congenita
2783	GNB2	HP:0006380	Knee flexion contracture
2783	GNB2	HP:0000248	Brachycephaly
2783	GNB2	HP:0033992	Chronotropic incompetence
2783	GNB2	HP:0000219	Thin upper lip vermilion
2783	GNB2	HP:0000218	High palate
2783	GNB2	HP:0001562	Oligohydramnios
2783	GNB2	HP:0001558	Decreased fetal movement
2783	GNB2	HP:0001508	Failure to thrive
2783	GNB2	HP:0030043	Hip subluxation
2783	GNB2	HP:0002835	Aspiration
2783	GNB2	HP:0030051	Tip-toe gait
2783	GNB2	HP:0000389	Chronic otitis media
2783	GNB2	HP:0002944	Thoracolumbar scoliosis
2783	GNB2	HP:0002917	Hypomagnesemia
2783	GNB2	HP:0002901	Hypocalcemia
2783	GNB2	HP:0001688	Sinus bradycardia
2783	GNB2	HP:0000369	Low-set ears
2783	GNB2	HP:0000341	Narrow forehead
2783	GNB2	HP:0001669	Transposition of the great arteries
2783	GNB2	HP:0001682	Subvalvular aortic stenosis
2783	GNB2	HP:0000348	High forehead
2783	GNB2	HP:0001678	Atrioventricular block
2783	GNB2	HP:0000347	Micrognathia
2783	GNB2	HP:0012304	Hypoplastic aortic arch
2783	GNB2	HP:0001645	Sudden cardiac death
2783	GNB2	HP:0002987	Elbow flexion contracture
2783	GNB2	HP:0001629	Ventricular septal defect
2783	GNB2	HP:0000303	Mandibular prognathia
2783	GNB2	HP:0005301	Persistent left superior vena cava
2783	GNB2	HP:0006610	Wide intermamillary distance
2783	GNB2	HP:0006659	Internally rotated shoulders
2783	GNB2	HP:0000403	Recurrent otitis media
2783	GNB2	HP:0000400	Macrotia
2783	GNB2	HP:0001719	Double outlet right ventricle
2783	GNB2	HP:0005272	Prominent nasolabial fold
2783	GNB2	HP:0005280	Depressed nasal bridge
2783	GNB2	HP:0031547	Abnormal QT interval
2783	GNB2	HP:0000490	Deeply set eye
2783	GNB2	HP:0001791	Fetal ascites
2783	GNB2	HP:0012450	Chronic constipation
2783	GNB2	HP:0031593	Abnormal PR interval
2783	GNB2	HP:0000448	Prominent nose
2783	GNB2	HP:0012506	Small pituitary gland
2783	GNB2	HP:0000527	Long eyelashes
2783	GNB2	HP:0000506	Telecanthus
2783	GNB2	HP:0000582	Upslanted palpebral fissure
2783	GNB2	HP:0000577	Exotropia
2783	GNB2	HP:0000592	Blue sclerae
2783	GNB2	HP:0011228	Horizontal eyebrow
2783	GNB2	HP:0000574	Thick eyebrow
2783	GNB2	HP:0000540	Hypermetropia
2783	GNB2	HP:0001878	Hemolytic anemia
2784	GNB3	HP:0000007	Autosomal recessive inheritance
2784	GNB3	HP:0007663	Reduced visual acuity
2784	GNB3	HP:0001426	Multifactorial inheritance
2784	GNB3	HP:0003581	Adult onset
2784	GNB3	HP:0004972	Elevated mean arterial pressure
2784	GNB3	HP:0000639	Nystagmus
2784	GNB3	HP:0000613	Photophobia
2784	GNB3	HP:0030469	Abnormal dark-adapted electroretinogram
2784	GNB3	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
2784	GNB3	HP:0000662	Nyctalopia
2784	GNB3	HP:0030639	Congenital stationary night blindness with abnormal fundus
2784	GNB3	HP:0030638	Congenital stationary night blindness with normal fundus
2784	GNB3	HP:0011463	Childhood onset
2784	GNB3	HP:0004421	Elevated systolic blood pressure
2784	GNB3	HP:0007703	Abnormality of retinal pigmentation
2784	GNB3	HP:0025573	Mild myopia
2784	GNB3	HP:0005117	Elevated diastolic blood pressure
2784	GNB3	HP:0030329	Retinal thinning
2784	GNB3	HP:0007984	Electronegative electroretinogram
2784	GNB3	HP:0000486	Strabismus
2784	GNB3	HP:0031705	Compensatory head posture
2784	GNB3	HP:0000540	Hypermetropia
2784	GNB3	HP:0000551	Color vision defect
2784	GNB3	HP:0000545	Myopia
2796	GNRH1	HP:0003782	Eunuchoid habitus
2796	GNRH1	HP:0002555	Absent pubic hair
2796	GNRH1	HP:0008734	Decreased testicular size
2796	GNRH1	HP:0008724	Hypoplasia of the ovary
2796	GNRH1	HP:0000044	Hypogonadotropic hypogonadism
2796	GNRH1	HP:0000054	Micropenis
2796	GNRH1	HP:0000026	Male hypogonadism
2796	GNRH1	HP:0000028	Cryptorchidism
2796	GNRH1	HP:0000027	Azoospermia
2796	GNRH1	HP:0000002	Abnormality of body height
2796	GNRH1	HP:0000013	Hypoplasia of the uterus
2796	GNRH1	HP:0000007	Autosomal recessive inheritance
2796	GNRH1	HP:0000164	Abnormality of the dentition
2796	GNRH1	HP:0000175	Cleft palate
2796	GNRH1	HP:0000118	Phenotypic abnormality
2796	GNRH1	HP:0000134	Female hypogonadism
2796	GNRH1	HP:0002761	Generalized joint laxity
2796	GNRH1	HP:0002750	Delayed skeletal maturation
2796	GNRH1	HP:0008197	Absence of pubertal development
2796	GNRH1	HP:0008187	Absence of secondary sex characteristics
2796	GNRH1	HP:0008214	Decreased serum estradiol
2796	GNRH1	HP:0002215	Sparse axillary hair
2796	GNRH1	HP:0002231	Sparse body hair
2796	GNRH1	HP:0002225	Sparse pubic hair
2796	GNRH1	HP:0011961	Non-obstructive azoospermia
2796	GNRH1	HP:0008527	Congenital sensorineural hearing impairment
2796	GNRH1	HP:0003621	Juvenile onset
2796	GNRH1	HP:0000802	Impotence
2796	GNRH1	HP:0000771	Gynecomastia
2796	GNRH1	HP:0000739	Anxiety
2796	GNRH1	HP:0000716	Depression
2796	GNRH1	HP:0000789	Infertility
2796	GNRH1	HP:0000786	Primary amenorrhea
2796	GNRH1	HP:0004408	Abnormality of the sense of smell
2796	GNRH1	HP:0003187	Breast hypoplasia
2796	GNRH1	HP:0000869	Secondary amenorrhea
2796	GNRH1	HP:0000823	Delayed puberty
2796	GNRH1	HP:0000939	Osteoporosis
2796	GNRH1	HP:0000938	Osteopenia
2796	GNRH1	HP:0040171	Decreased serum testosterone concentration
2796	GNRH1	HP:0030019	Increased female libido
2796	GNRH1	HP:0012385	Camptodactyly
2796	GNRH1	HP:0001608	Abnormality of the voice
2796	GNRH1	HP:0000316	Hypertelorism
2796	GNRH1	HP:0006610	Wide intermamillary distance
2796	GNRH1	HP:0005280	Depressed nasal bridge
2796	GNRH1	HP:0000458	Anosmia
2796	GNRH1	HP:0030339	Decreased circulating gonadotropin concentration
2798	GNRHR	HP:0003782	Eunuchoid habitus
2798	GNRHR	HP:0008734	Decreased testicular size
2798	GNRHR	HP:0008724	Hypoplasia of the ovary
2798	GNRHR	HP:0000044	Hypogonadotropic hypogonadism
2798	GNRHR	HP:0000054	Micropenis
2798	GNRHR	HP:0000026	Male hypogonadism
2798	GNRHR	HP:0000028	Cryptorchidism
2798	GNRHR	HP:0000027	Azoospermia
2798	GNRHR	HP:0000002	Abnormality of body height
2798	GNRHR	HP:0000013	Hypoplasia of the uterus
2798	GNRHR	HP:0000007	Autosomal recessive inheritance
2798	GNRHR	HP:0000164	Abnormality of the dentition
2798	GNRHR	HP:0000175	Cleft palate
2798	GNRHR	HP:0000118	Phenotypic abnormality
2798	GNRHR	HP:0000134	Female hypogonadism
2798	GNRHR	HP:0002761	Generalized joint laxity
2798	GNRHR	HP:0002750	Delayed skeletal maturation
2798	GNRHR	HP:0008197	Absence of pubertal development
2798	GNRHR	HP:0008187	Absence of secondary sex characteristics
2798	GNRHR	HP:0002215	Sparse axillary hair
2798	GNRHR	HP:0002231	Sparse body hair
2798	GNRHR	HP:0002225	Sparse pubic hair
2798	GNRHR	HP:0011961	Non-obstructive azoospermia
2798	GNRHR	HP:0008527	Congenital sensorineural hearing impairment
2798	GNRHR	HP:0003621	Juvenile onset
2798	GNRHR	HP:0000802	Impotence
2798	GNRHR	HP:0000771	Gynecomastia
2798	GNRHR	HP:0000739	Anxiety
2798	GNRHR	HP:0000716	Depression
2798	GNRHR	HP:0000789	Infertility
2798	GNRHR	HP:0000786	Primary amenorrhea
2798	GNRHR	HP:0004408	Abnormality of the sense of smell
2798	GNRHR	HP:0003187	Breast hypoplasia
2798	GNRHR	HP:0000869	Secondary amenorrhea
2798	GNRHR	HP:0000823	Delayed puberty
2798	GNRHR	HP:0000939	Osteoporosis
2798	GNRHR	HP:0000938	Osteopenia
2798	GNRHR	HP:0040171	Decreased serum testosterone concentration
2798	GNRHR	HP:0030019	Increased female libido
2798	GNRHR	HP:0012385	Camptodactyly
2798	GNRHR	HP:0001608	Abnormality of the voice
2798	GNRHR	HP:0000316	Hypertelorism
2798	GNRHR	HP:0006610	Wide intermamillary distance
2798	GNRHR	HP:0005280	Depressed nasal bridge
2799	GNS	HP:0001169	Broad palm
2799	GNS	HP:0009937	Facial hirsutism
2799	GNS	HP:0010865	Oppositional defiant disorder
2799	GNS	HP:0001272	Cerebellar atrophy
2799	GNS	HP:0001250	Seizure
2799	GNS	HP:0001249	Intellectual disability
2799	GNS	HP:0001260	Dysarthria
2799	GNS	HP:0001263	Global developmental delay
2799	GNS	HP:0001385	Hip dysplasia
2799	GNS	HP:0001387	Joint stiffness
2799	GNS	HP:0000023	Inguinal hernia
2799	GNS	HP:0001348	Brisk reflexes
2799	GNS	HP:0002656	Epiphyseal dysplasia
2799	GNS	HP:0001344	Absent speech
2799	GNS	HP:0000007	Autosomal recessive inheritance
2799	GNS	HP:0000187	Broad alveolar ridges
2799	GNS	HP:0000179	Thick lower lip vermilion
2799	GNS	HP:0000158	Macroglossia
2799	GNS	HP:0000154	Wide mouth
2799	GNS	HP:0002788	Recurrent upper respiratory tract infections
2799	GNS	HP:0002014	Diarrhea
2799	GNS	HP:0002015	Dysphagia
2799	GNS	HP:0002007	Frontal bossing
2799	GNS	HP:0003309	Ovoid thoracolumbar vertebrae
2799	GNS	HP:0002159	Heparan sulfate excretion in urine
2799	GNS	HP:0003593	Infantile onset
2799	GNS	HP:0002240	Hepatomegaly
2799	GNS	HP:0002208	Coarse hair
2799	GNS	HP:0002360	Sleep disturbance
2799	GNS	HP:0003676	Progressive
2799	GNS	HP:0001007	Hirsutism
2799	GNS	HP:0002355	Difficulty walking
2799	GNS	HP:0003653	Cellular metachromasia
2799	GNS	HP:0033454	Tube feeding
2799	GNS	HP:0008479	Hypoplastic vertebral bodies
2799	GNS	HP:0010769	Pilonidal sinus
2799	GNS	HP:0002307	Drooling
2799	GNS	HP:0031849	Sleep-wake inversion
2799	GNS	HP:0000662	Nyctalopia
2799	GNS	HP:0000664	Synophrys
2799	GNS	HP:0004322	Short stature
2799	GNS	HP:0000752	Hyperactivity
2799	GNS	HP:0000750	Delayed speech and language development
2799	GNS	HP:0000718	Aggressive behavior
2799	GNS	HP:0000711	Restlessness
2799	GNS	HP:0000713	Agitation
2799	GNS	HP:0011463	Childhood onset
2799	GNS	HP:0000900	Thickened ribs
2799	GNS	HP:0000943	Dysostosis multiplex
2799	GNS	HP:0000280	Coarse facial features
2799	GNS	HP:0000256	Macrocephaly
2799	GNS	HP:0031354	Sleep onset insomnia
2799	GNS	HP:0001507	Growth abnormality
2799	GNS	HP:0002943	Thoracic scoliosis
2799	GNS	HP:0000365	Hearing impairment
2799	GNS	HP:0000369	Low-set ears
2799	GNS	HP:0001670	Asymmetric septal hypertrophy
2799	GNS	HP:0000316	Hypertelorism
2799	GNS	HP:0002987	Elbow flexion contracture
2799	GNS	HP:0001653	Mitral regurgitation
2799	GNS	HP:0000403	Recurrent otitis media
2799	GNS	HP:0005280	Depressed nasal bridge
2799	GNS	HP:0012471	Thick vermilion border
2799	GNS	HP:0000490	Deeply set eye
2799	GNS	HP:0000463	Anteverted nares
2799	GNS	HP:0000470	Short neck
2799	GNS	HP:0001771	Achilles tendon contracture
2799	GNS	HP:0001744	Splenomegaly
2799	GNS	HP:0001761	Pes cavus
2799	GNS	HP:0000505	Visual impairment
2799	GNS	HP:0011220	Prominent forehead
2799	GNS	HP:0000574	Thick eyebrow
2806	GOT2	HP:0010864	Intellectual disability, severe
2806	GOT2	HP:0001250	Seizure
2806	GOT2	HP:0002540	Inability to walk
2806	GOT2	HP:0002510	Spastic tetraplegia
2806	GOT2	HP:0008872	Feeding difficulties in infancy
2806	GOT2	HP:0001344	Absent speech
2806	GOT2	HP:0000007	Autosomal recessive inheritance
2806	GOT2	HP:0001320	Cerebellar vermis hypoplasia
2806	GOT2	HP:0001319	Neonatal hypotonia
2806	GOT2	HP:0002719	Recurrent infections
2806	GOT2	HP:0002079	Hypoplasia of the corpus callosum
2806	GOT2	HP:0002059	Cerebral atrophy
2806	GOT2	HP:0002151	Increased serum lactate
2806	GOT2	HP:0002313	Spastic paraparesis
2806	GOT2	HP:0001987	Hyperammonemia
2806	GOT2	HP:0004325	Decreased body weight
2806	GOT2	HP:0004322	Short stature
2806	GOT2	HP:0000750	Delayed speech and language development
2806	GOT2	HP:0000253	Progressive microcephaly
2811	GP1BA	HP:0008619	Bilateral sensorineural hearing impairment
2811	GP1BA	HP:0001250	Seizure
2811	GP1BA	HP:0001263	Global developmental delay
2811	GP1BA	HP:0007420	Spontaneous hematomas
2811	GP1BA	HP:0008738	Partially duplicated kidney
2811	GP1BA	HP:0000007	Autosomal recessive inheritance
2811	GP1BA	HP:0000006	Autosomal dominant inheritance
2811	GP1BA	HP:0031128	Impaired collagen-related peptide-induced platelet aggregation
2811	GP1BA	HP:0012143	Abnormal megakaryocyte morphology
2811	GP1BA	HP:0007634	Nonarteritic anterior ischemic optic neuropathy
2811	GP1BA	HP:0006298	Prolonged bleeding after dental extraction
2811	GP1BA	HP:0000132	Menorrhagia
2811	GP1BA	HP:0002099	Asthma
2811	GP1BA	HP:0002076	Migraine
2811	GP1BA	HP:0002138	Subarachnoid hemorrhage
2811	GP1BA	HP:0002170	Intracranial hemorrhage
2811	GP1BA	HP:0011877	Increased mean platelet volume
2811	GP1BA	HP:0011879	Decreased platelet glycoprotein Ib-IX-V
2811	GP1BA	HP:0011871	Impaired ristocetin-induced platelet aggregation
2811	GP1BA	HP:0003577	Congenital onset
2811	GP1BA	HP:0002239	Gastrointestinal hemorrhage
2811	GP1BA	HP:0002249	Melena
2811	GP1BA	HP:0002248	Hematemesis
2811	GP1BA	HP:0004854	Intermittent thrombocytopenia
2811	GP1BA	HP:0004866	Impaired ADP-induced platelet aggregation
2811	GP1BA	HP:0004846	Prolonged bleeding after surgery
2811	GP1BA	HP:0004809	Neonatal alloimmune thrombocytopenia
2811	GP1BA	HP:0000618	Blindness
2811	GP1BA	HP:0001902	Giant platelets
2811	GP1BA	HP:0003010	Prolonged bleeding time
2811	GP1BA	HP:0100021	Cerebral palsy
2811	GP1BA	HP:0000707	Abnormality of the nervous system
2811	GP1BA	HP:0000790	Hematuria
2811	GP1BA	HP:0004446	Stomatocytosis
2811	GP1BA	HP:0004406	Spontaneous, recurrent epistaxis
2811	GP1BA	HP:0000979	Purpura
2811	GP1BA	HP:0000978	Bruising susceptibility
2811	GP1BA	HP:0000967	Petechiae
2811	GP1BA	HP:0040185	Macrothrombocytopenia
2811	GP1BA	HP:0000225	Gingival bleeding
2811	GP1BA	HP:0031364	Ecchymosis
2811	GP1BA	HP:0001744	Splenomegaly
2811	GP1BA	HP:0000421	Epistaxis
2811	GP1BA	HP:0012587	Macroscopic hematuria
2811	GP1BA	HP:0001892	Abnormal bleeding
2811	GP1BA	HP:0012541	Cephalohematoma
2811	GP1BA	HP:0001878	Hemolytic anemia
2811	GP1BA	HP:0001873	Thrombocytopenia
2812	GP1BB	HP:0001166	Arachnodactyly
2812	GP1BB	HP:0001161	Hand polydactyly
2812	GP1BB	HP:0001136	Retinal arteriolar tortuosity
2812	GP1BB	HP:0002435	Meningocele
2812	GP1BB	HP:0007302	Bipolar affective disorder
2812	GP1BB	HP:0008619	Bilateral sensorineural hearing impairment
2812	GP1BB	HP:0007271	Occipital myelomeningocele
2812	GP1BB	HP:0002414	Spina bifida
2812	GP1BB	HP:0001281	Tetany
2812	GP1BB	HP:0001256	Intellectual disability, mild
2812	GP1BB	HP:0001250	Seizure
2812	GP1BB	HP:0001252	Hypotonia
2812	GP1BB	HP:0001249	Intellectual disability
2812	GP1BB	HP:0001263	Global developmental delay
2812	GP1BB	HP:0002566	Intestinal malrotation
2812	GP1BB	HP:0007420	Spontaneous hematomas
2812	GP1BB	HP:0008738	Partially duplicated kidney
2812	GP1BB	HP:0000089	Renal hypoplasia
2812	GP1BB	HP:0000076	Vesicoureteral reflux
2812	GP1BB	HP:0001369	Arthritis
2812	GP1BB	HP:0000047	Hypospadias
2812	GP1BB	HP:0000023	Inguinal hernia
2812	GP1BB	HP:0002691	Platybasia
2812	GP1BB	HP:0000028	Cryptorchidism
2812	GP1BB	HP:0008872	Feeding difficulties in infancy
2812	GP1BB	HP:0001328	Specific learning disability
2812	GP1BB	HP:0000007	Autosomal recessive inheritance
2812	GP1BB	HP:0002650	Scoliosis
2812	GP1BB	HP:0002619	Varicose veins
2812	GP1BB	HP:0002607	Bowel incontinence
2812	GP1BB	HP:0000164	Abnormality of the dentition
2812	GP1BB	HP:0000160	Narrow mouth
2812	GP1BB	HP:0000175	Cleft palate
2812	GP1BB	HP:0012143	Abnormal megakaryocyte morphology
2812	GP1BB	HP:0006298	Prolonged bleeding after dental extraction
2812	GP1BB	HP:0000113	Polycystic kidney dysplasia
2812	GP1BB	HP:0000132	Menorrhagia
2812	GP1BB	HP:0000130	Abnormality of the uterus
2812	GP1BB	HP:0002721	Immunodeficiency
2812	GP1BB	HP:0002023	Anal atresia
2812	GP1BB	HP:0002020	Gastroesophageal reflux
2812	GP1BB	HP:0002019	Constipation
2812	GP1BB	HP:0003326	Myalgia
2812	GP1BB	HP:0002099	Asthma
2812	GP1BB	HP:0002076	Migraine
2812	GP1BB	HP:0002139	Arrhinencephaly
2812	GP1BB	HP:0002138	Subarachnoid hemorrhage
2812	GP1BB	HP:0002101	Abnormal lung lobation
2812	GP1BB	HP:0002170	Intracranial hemorrhage
2812	GP1BB	HP:0011879	Decreased platelet glycoprotein Ib-IX-V
2812	GP1BB	HP:0011871	Impaired ristocetin-induced platelet aggregation
2812	GP1BB	HP:0003577	Congenital onset
2812	GP1BB	HP:0002239	Gastrointestinal hemorrhage
2812	GP1BB	HP:0002251	Aganglionic megacolon
2812	GP1BB	HP:0002249	Melena
2812	GP1BB	HP:0002248	Hematemesis
2812	GP1BB	HP:0100765	Abnormality of the tonsils
2812	GP1BB	HP:0100735	Hypertensive crisis
2812	GP1BB	HP:0100750	Atelectasis
2812	GP1BB	HP:0100753	Schizophrenia
2812	GP1BB	HP:0007018	Attention deficit hyperactivity disorder
2812	GP1BB	HP:0004846	Prolonged bleeding after surgery
2812	GP1BB	HP:0004809	Neonatal alloimmune thrombocytopenia
2812	GP1BB	HP:0001051	Seborrheic dermatitis
2812	GP1BB	HP:0001053	Hypopigmented skin patches
2812	GP1BB	HP:0002381	Aphasia
2812	GP1BB	HP:0001061	Acne
2812	GP1BB	HP:0001081	Cholelithiasis
2812	GP1BB	HP:0005562	Multiple renal cysts
2812	GP1BB	HP:0000648	Optic atrophy
2812	GP1BB	HP:0000618	Blindness
2812	GP1BB	HP:0000627	Posterior embryotoxon
2812	GP1BB	HP:0000600	Abnormality of the pharynx
2812	GP1BB	HP:0001902	Giant platelets
2812	GP1BB	HP:0000682	Abnormal dental enamel morphology
2812	GP1BB	HP:0011324	Multiple suture craniosynostosis
2812	GP1BB	HP:0000670	Carious teeth
2812	GP1BB	HP:0001999	Abnormal facial shape
2812	GP1BB	HP:0004322	Short stature
2812	GP1BB	HP:0030680	Abnormality of cardiovascular system morphology
2812	GP1BB	HP:0005692	Joint hyperflexibility
2812	GP1BB	HP:0003010	Prolonged bleeding time
2812	GP1BB	HP:0100021	Cerebral palsy
2812	GP1BB	HP:0012732	Anorectal anomaly
2812	GP1BB	HP:0000765	Abnormal thorax morphology
2812	GP1BB	HP:0000739	Anxiety
2812	GP1BB	HP:0000716	Depression
2812	GP1BB	HP:0000717	Autism
2812	GP1BB	HP:0000708	Atypical behavior
2812	GP1BB	HP:0000707	Abnormality of the nervous system
2812	GP1BB	HP:0011496	Corneal neovascularization
2812	GP1BB	HP:0000778	Hypoplasia of the thymus
2812	GP1BB	HP:0000790	Hematuria
2812	GP1BB	HP:0004406	Spontaneous, recurrent epistaxis
2812	GP1BB	HP:0000929	Abnormal skull morphology
2812	GP1BB	HP:0000836	Hyperthyroidism
2812	GP1BB	HP:0000829	Hypoparathyroidism
2812	GP1BB	HP:0000821	Hypothyroidism
2812	GP1BB	HP:0011662	Tricuspid atresia
2812	GP1BB	HP:0000979	Purpura
2812	GP1BB	HP:0000978	Bruising susceptibility
2812	GP1BB	HP:0000967	Petechiae
2812	GP1BB	HP:0040185	Macrothrombocytopenia
2812	GP1BB	HP:0000286	Epicanthus
2812	GP1BB	HP:0000262	Turricephaly
2812	GP1BB	HP:0000276	Long face
2812	GP1BB	HP:0000272	Malar flattening
2812	GP1BB	HP:0000238	Hydrocephalus
2812	GP1BB	HP:0000252	Microcephaly
2812	GP1BB	HP:0001561	Polyhydramnios
2812	GP1BB	HP:0000225	Gingival bleeding
2812	GP1BB	HP:0001537	Umbilical hernia
2812	GP1BB	HP:0031364	Ecchymosis
2812	GP1BB	HP:0001508	Failure to thrive
2812	GP1BB	HP:0001511	Intrauterine growth retardation
2812	GP1BB	HP:0001513	Obesity
2812	GP1BB	HP:0006510	Chronic pulmonary obstruction
2812	GP1BB	HP:0000385	Small earlobe
2812	GP1BB	HP:0000396	Overfolded helix
2812	GP1BB	HP:0000389	Chronic otitis media
2812	GP1BB	HP:0001601	Laryngomalacia
2812	GP1BB	HP:0001611	Hypernasal speech
2812	GP1BB	HP:0002901	Hypocalcemia
2812	GP1BB	HP:0000365	Hearing impairment
2812	GP1BB	HP:0000369	Low-set ears
2812	GP1BB	HP:0000343	Long philtrum
2812	GP1BB	HP:0002999	Patellar dislocation
2812	GP1BB	HP:0000347	Micrognathia
2812	GP1BB	HP:0012303	Abnormal aortic arch morphology
2812	GP1BB	HP:0000316	Hypertelorism
2812	GP1BB	HP:0001646	Abnormal aortic valve morphology
2812	GP1BB	HP:0001643	Patent ductus arteriosus
2812	GP1BB	HP:0001660	Truncus arteriosus
2812	GP1BB	HP:0000322	Short philtrum
2812	GP1BB	HP:0002960	Autoimmunity
2812	GP1BB	HP:0001629	Ventricular septal defect
2812	GP1BB	HP:0001641	Abnormal pulmonary valve morphology
2812	GP1BB	HP:0001636	Tetralogy of Fallot
2812	GP1BB	HP:0001631	Atrial septal defect
2812	GP1BB	HP:0000405	Conductive hearing impairment
2812	GP1BB	HP:0000486	Strabismus
2812	GP1BB	HP:0000494	Downslanted palpebral fissures
2812	GP1BB	HP:0000492	Abnormal eyelid morphology
2812	GP1BB	HP:0000470	Short neck
2812	GP1BB	HP:0000453	Choanal atresia
2812	GP1BB	HP:0000414	Bulbous nose
2812	GP1BB	HP:0001744	Splenomegaly
2812	GP1BB	HP:0001762	Talipes equinovarus
2812	GP1BB	HP:0000431	Wide nasal bridge
2812	GP1BB	HP:0000426	Prominent nasal bridge
2812	GP1BB	HP:0000421	Epistaxis
2812	GP1BB	HP:0005435	Impaired T cell function
2812	GP1BB	HP:0000518	Cataract
2812	GP1BB	HP:0001829	Foot polydactyly
2812	GP1BB	HP:0000506	Telecanthus
2812	GP1BB	HP:0000508	Ptosis
2812	GP1BB	HP:0000501	Glaucoma
2812	GP1BB	HP:0012587	Macroscopic hematuria
2812	GP1BB	HP:0000582	Upslanted palpebral fissure
2812	GP1BB	HP:0001892	Abnormal bleeding
2812	GP1BB	HP:0012541	Cephalohematoma
2812	GP1BB	HP:0000568	Microphthalmia
2812	GP1BB	HP:0001872	Abnormality of thrombocytes
2812	GP1BB	HP:0001873	Thrombocytopenia
2815	GP9	HP:0001250	Seizure
2815	GP9	HP:0007420	Spontaneous hematomas
2815	GP9	HP:0008738	Partially duplicated kidney
2815	GP9	HP:0000007	Autosomal recessive inheritance
2815	GP9	HP:0012143	Abnormal megakaryocyte morphology
2815	GP9	HP:0006298	Prolonged bleeding after dental extraction
2815	GP9	HP:0000132	Menorrhagia
2815	GP9	HP:0002099	Asthma
2815	GP9	HP:0002076	Migraine
2815	GP9	HP:0011879	Decreased platelet glycoprotein Ib-IX-V
2815	GP9	HP:0011871	Impaired ristocetin-induced platelet aggregation
2815	GP9	HP:0003577	Congenital onset
2815	GP9	HP:0002239	Gastrointestinal hemorrhage
2815	GP9	HP:0002248	Hematemesis
2815	GP9	HP:0004846	Prolonged bleeding after surgery
2815	GP9	HP:0001902	Giant platelets
2815	GP9	HP:0003010	Prolonged bleeding time
2815	GP9	HP:0004406	Spontaneous, recurrent epistaxis
2815	GP9	HP:0000979	Purpura
2815	GP9	HP:0000978	Bruising susceptibility
2815	GP9	HP:0000967	Petechiae
2815	GP9	HP:0040185	Macrothrombocytopenia
2815	GP9	HP:0000225	Gingival bleeding
2815	GP9	HP:0000421	Epistaxis
2815	GP9	HP:0012587	Macroscopic hematuria
2815	GP9	HP:0001892	Abnormal bleeding
2815	GP9	HP:0001873	Thrombocytopenia
2819	GPD1	HP:0001397	Hepatic steatosis
2819	GPD1	HP:0001395	Hepatic fibrosis
2819	GPD1	HP:0000007	Autosomal recessive inheritance
2819	GPD1	HP:0002013	Vomiting
2819	GPD1	HP:0030948	Elevated gamma-glutamyltransferase level
2819	GPD1	HP:0002155	Hypertriglyceridemia
2819	GPD1	HP:0003593	Infantile onset
2819	GPD1	HP:0002240	Hepatomegaly
2819	GPD1	HP:0004322	Short stature
2819	GPD1	HP:0001508	Failure to thrive
2819	GPD1	HP:0002910	Elevated hepatic transaminase
2819	GPD1	HP:0001744	Splenomegaly
2820	GPD2	HP:0000006	Autosomal dominant inheritance
2820	GPD2	HP:0005978	Type II diabetes mellitus
2820	GPD2	HP:0003584	Late onset
2820	GPD2	HP:0031819	Increased waist to hip ratio
2820	GPD2	HP:0000855	Insulin resistance
2821	GPI	HP:0010871	Sensory ataxia
2821	GPI	HP:0001251	Ataxia
2821	GPI	HP:0001249	Intellectual disability
2821	GPI	HP:0001324	Muscle weakness
2821	GPI	HP:0000007	Autosomal recessive inheritance
2821	GPI	HP:0003568	Decreased glucosephosphate isomerase level
2821	GPI	HP:0011993	Impaired neutrophil bactericidal activity
2821	GPI	HP:0011981	Pigment gallstones
2821	GPI	HP:0001081	Cholelithiasis
2821	GPI	HP:0001082	Cholecystitis
2821	GPI	HP:0005525	Spontaneous hemolytic crises
2821	GPI	HP:0001930	Nonspherocytic hemolytic anemia
2821	GPI	HP:0000952	Jaundice
2821	GPI	HP:0001744	Splenomegaly
2859	GPR35	HP:0003700	Generalized amyotrophy
2859	GPR35	HP:0001298	Encephalopathy
2859	GPR35	HP:0100869	Palmar telangiectasia
2859	GPR35	HP:0000083	Renal insufficiency
2859	GPR35	HP:0001396	Cholestasis
2859	GPR35	HP:0001395	Hepatic fibrosis
2859	GPR35	HP:0001394	Cirrhosis
2859	GPR35	HP:0002608	Celiac disease
2859	GPR35	HP:0012115	Hepatitis
2859	GPR35	HP:0001433	Hepatosplenomegaly
2859	GPR35	HP:0001409	Portal hypertension
2859	GPR35	HP:0001402	Hepatocellular carcinoma
2859	GPR35	HP:0002027	Abdominal pain
2859	GPR35	HP:0100512	Low levels of vitamin D
2859	GPR35	HP:0100513	Low levels of vitamin E
2859	GPR35	HP:0100575	Neoplasm of the gallbladder
2859	GPR35	HP:0040275	Adenocarcinoma of the large intestine
2859	GPR35	HP:0008151	Prolonged prothrombin time
2859	GPR35	HP:0003459	Polyclonal elevation of IgM
2859	GPR35	HP:0011892	Low levels of vitamin K
2859	GPR35	HP:0002240	Hepatomegaly
2859	GPR35	HP:0002202	Pleural effusion
2859	GPR35	HP:0100727	Histiocytosis
2859	GPR35	HP:0010638	Elevated alkaline phosphatase of hepatic origin
2859	GPR35	HP:0100651	Type I diabetes mellitus
2859	GPR35	HP:0100646	Thyroiditis
2859	GPR35	HP:0100626	Chronic hepatic failure
2859	GPR35	HP:0001081	Cholelithiasis
2859	GPR35	HP:0004905	Low levels of vitamin A
2859	GPR35	HP:0001945	Fever
2859	GPR35	HP:0003073	Hypoalbuminemia
2859	GPR35	HP:0012700	Abnormal large intestine physiology
2859	GPR35	HP:0000716	Depression
2859	GPR35	HP:0100279	Ulcerative colitis
2859	GPR35	HP:0000989	Pruritus
2859	GPR35	HP:0000952	Jaundice
2859	GPR35	HP:0000939	Osteoporosis
2859	GPR35	HP:0000938	Osteopenia
2859	GPR35	HP:0001541	Ascites
2859	GPR35	HP:0012378	Fatigue
2859	GPR35	HP:0011034	Amyloidosis
2859	GPR35	HP:0006554	Acute hepatic failure
2859	GPR35	HP:0002910	Elevated hepatic transaminase
2859	GPR35	HP:0030153	Cholangiocarcinoma
2859	GPR35	HP:0002960	Autoimmunity
2859	GPR35	HP:0030168	Dilated superficial abdominal veins
2859	GPR35	HP:0001635	Congestive heart failure
2859	GPR35	HP:0001733	Pancreatitis
2859	GPR35	HP:0012440	Abnormal biliary tract morphology
2859	GPR35	HP:0001744	Splenomegaly
2859	GPR35	HP:0005429	Recurrent systemic pyogenic infections
2859	GPR35	HP:0001824	Weight loss
2859	GPR35	HP:0000554	Uveitis
2859	GPR35	HP:0012522	Spider hemangioma
2859	GPR35	HP:0001879	Abnormal eosinophil morphology
2876	GPX1	HP:0000007	Autosomal recessive inheritance
2876	GPX1	HP:0004863	Compensated hemolytic anemia
2876	GPX1	HP:0020082	Heinz bodies
2876	GPX1	HP:0003265	Neonatal hyperbilirubinemia
2879	GPX4	HP:0001156	Brachydactyly
2879	GPX4	HP:0001290	Generalized hypotonia
2879	GPX4	HP:0001274	Agenesis of corpus callosum
2879	GPX4	HP:0001252	Hypotonia
2879	GPX4	HP:0006059	Cone-shaped metacarpal epiphyses
2879	GPX4	HP:0008798	Widened greater sciatic notch
2879	GPX4	HP:0008786	Iliac crest serration
2879	GPX4	HP:0002663	Delayed epiphyseal ossification
2879	GPX4	HP:0002657	Spondylometaphyseal dysplasia
2879	GPX4	HP:0000007	Autosomal recessive inheritance
2879	GPX4	HP:0001302	Pachygyria
2879	GPX4	HP:0001321	Cerebellar hypoplasia
2879	GPX4	HP:0008905	Rhizomelia
2879	GPX4	HP:0002750	Delayed skeletal maturation
2879	GPX4	HP:0031233	Horizontal inferior border of scapula
2879	GPX4	HP:0004688	Irregular tarsal bones
2879	GPX4	HP:0002093	Respiratory insufficiency
2879	GPX4	HP:0003375	Narrow greater sciatic notch
2879	GPX4	HP:0002132	Porencephalic cyst
2879	GPX4	HP:0003498	Disproportionate short stature
2879	GPX4	HP:0010579	Cone-shaped epiphysis
2879	GPX4	HP:0004991	Rhizomelic arm shortening
2879	GPX4	HP:0009803	Short phalanx of finger
2879	GPX4	HP:0007187	Focal lissencephaly
2879	GPX4	HP:0004279	Short palm
2879	GPX4	HP:0010049	Short metacarpal
2879	GPX4	HP:0005616	Accelerated skeletal maturation
2879	GPX4	HP:0003085	Long fibula
2879	GPX4	HP:0003026	Short long bone
2879	GPX4	HP:0003025	Metaphyseal irregularity
2879	GPX4	HP:0003021	Metaphyseal cupping
2879	GPX4	HP:0000772	Abnormal rib morphology
2879	GPX4	HP:0000782	Abnormal scapula morphology
2879	GPX4	HP:0000774	Narrow chest
2879	GPX4	HP:0000773	Short ribs
2879	GPX4	HP:0000926	Platyspondyly
2879	GPX4	HP:0003180	Flat acetabular roof
2879	GPX4	HP:0004491	Large posterior fontanelle
2879	GPX4	HP:0000878	11 pairs of ribs
2879	GPX4	HP:0000887	Cupped ribs
2879	GPX4	HP:0012819	Myocarditis
2879	GPX4	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
2879	GPX4	HP:0005871	Metaphyseal chondrodysplasia
2879	GPX4	HP:0009381	Short finger
2879	GPX4	HP:0011675	Arrhythmia
2879	GPX4	HP:0000262	Turricephaly
2879	GPX4	HP:0001582	Redundant skin
2879	GPX4	HP:0002869	Flared iliac wing
2879	GPX4	HP:0006543	Cardiorespiratory arrest
2879	GPX4	HP:0000358	Posteriorly rotated ears
2879	GPX4	HP:0001678	Atrioventricular block
2879	GPX4	HP:0001631	Atrial septal defect
2879	GPX4	HP:0005280	Depressed nasal bridge
2879	GPX4	HP:0000470	Short neck
2879	GPX4	HP:0001762	Talipes equinovarus
2879	GPX4	HP:0001831	Short toe
2887	GRB10	HP:0001156	Brachydactyly
2887	GRB10	HP:0001159	Syndactyly
2887	GRB10	HP:0001270	Motor delay
2887	GRB10	HP:0001263	Global developmental delay
2887	GRB10	HP:0000085	Horseshoe kidney
2887	GRB10	HP:0000047	Hypospadias
2887	GRB10	HP:0000028	Cryptorchidism
2887	GRB10	HP:0008897	Postnatal growth retardation
2887	GRB10	HP:0008872	Feeding difficulties in infancy
2887	GRB10	HP:0008846	Severe intrauterine growth retardation
2887	GRB10	HP:0001328	Specific learning disability
2887	GRB10	HP:0002650	Scoliosis
2887	GRB10	HP:0003944	Narrow joint spaces of the elbow
2887	GRB10	HP:0000160	Narrow mouth
2887	GRB10	HP:0001476	Delayed closure of the anterior fontanelle
2887	GRB10	HP:0002705	High, narrow palate
2887	GRB10	HP:0000119	Abnormality of the genitourinary system
2887	GRB10	HP:0000110	Renal dysplasia
2887	GRB10	HP:0002750	Delayed skeletal maturation
2887	GRB10	HP:0002714	Downturned corners of mouth
2887	GRB10	HP:0002020	Gastroesophageal reflux
2887	GRB10	HP:0002019	Constipation
2887	GRB10	HP:0002013	Vomiting
2887	GRB10	HP:0002007	Frontal bossing
2887	GRB10	HP:0100555	Asymmetric growth
2887	GRB10	HP:0100559	Lower limb asymmetry
2887	GRB10	HP:0100633	Esophagitis
2887	GRB10	HP:0010782	Shoulder dimple
2887	GRB10	HP:0004209	Clinodactyly of the 5th finger
2887	GRB10	HP:0000678	Dental crowding
2887	GRB10	HP:0000691	Microdontia
2887	GRB10	HP:0001999	Abnormal facial shape
2887	GRB10	HP:0004396	Poor appetite
2887	GRB10	HP:0000750	Delayed speech and language development
2887	GRB10	HP:0003199	Decreased muscle mass
2887	GRB10	HP:0004482	Relative macrocephaly
2887	GRB10	HP:0003162	Fasting hypoglycemia
2887	GRB10	HP:0000855	Insulin resistance
2887	GRB10	HP:0000826	Precocious puberty
2887	GRB10	HP:0000824	Decreased response to growth hormone stimulation test
2887	GRB10	HP:0000975	Hyperhidrosis
2887	GRB10	HP:0030084	Clinodactyly
2887	GRB10	HP:0000233	Thin vermilion border
2887	GRB10	HP:0002870	Obstructive sleep apnea
2887	GRB10	HP:0000201	Pierre-Robin sequence
2887	GRB10	HP:0001508	Failure to thrive
2887	GRB10	HP:0002835	Aspiration
2887	GRB10	HP:0001518	Small for gestational age
2887	GRB10	HP:0001511	Intrauterine growth retardation
2887	GRB10	HP:0011094	Increased overbite
2887	GRB10	HP:0000356	Abnormality of the outer ear
2887	GRB10	HP:0000347	Micrognathia
2887	GRB10	HP:0000331	Short chin
2887	GRB10	HP:0000325	Triangular face
2887	GRB10	HP:0001627	Abnormal heart morphology
2887	GRB10	HP:0001620	High pitched voice
2887	GRB10	HP:0012412	Premature adrenarche
2887	GRB10	HP:0011220	Prominent forehead
2887	GRB10	HP:0012523	Oral aversion
2890	GRIA1	HP:0007302	Bipolar affective disorder
2890	GRIA1	HP:0010862	Delayed fine motor development
2890	GRIA1	HP:0010864	Intellectual disability, severe
2890	GRIA1	HP:0001270	Motor delay
2890	GRIA1	HP:0001250	Seizure
2890	GRIA1	HP:0001249	Intellectual disability
2890	GRIA1	HP:0001260	Dysarthria
2890	GRIA1	HP:0001263	Global developmental delay
2890	GRIA1	HP:0001344	Absent speech
2890	GRIA1	HP:0000007	Autosomal recessive inheritance
2890	GRIA1	HP:0000006	Autosomal dominant inheritance
2890	GRIA1	HP:0002020	Gastroesophageal reflux
2890	GRIA1	HP:0010465	Precocious puberty in females
2890	GRIA1	HP:0002194	Delayed gross motor development
2890	GRIA1	HP:0003593	Infantile onset
2890	GRIA1	HP:0100716	Self-injurious behavior
2890	GRIA1	HP:0002205	Recurrent respiratory infections
2890	GRIA1	HP:0007018	Attention deficit hyperactivity disorder
2890	GRIA1	HP:0011968	Feeding difficulties
2890	GRIA1	HP:0020049	Exodeviation
2890	GRIA1	HP:0002360	Sleep disturbance
2890	GRIA1	HP:0011327	Posterior plagiocephaly
2890	GRIA1	HP:0000752	Hyperactivity
2890	GRIA1	HP:0100034	Motor tics
2890	GRIA1	HP:0000750	Delayed speech and language development
2890	GRIA1	HP:0000729	Autistic behavior
2890	GRIA1	HP:0000821	Hypothyroidism
2890	GRIA1	HP:0011182	Interictal epileptiform activity
2890	GRIA1	HP:0000483	Astigmatism
2890	GRIA1	HP:0012471	Thick vermilion border
2890	GRIA1	HP:0012450	Chronic constipation
2890	GRIA1	HP:0000506	Telecanthus
2891	GRIA2	HP:0020221	Clonic seizure
2891	GRIA2	HP:0001272	Cerebellar atrophy
2891	GRIA2	HP:0001249	Intellectual disability
2891	GRIA2	HP:0001263	Global developmental delay
2891	GRIA2	HP:0001257	Spasticity
2891	GRIA2	HP:0007359	Focal-onset seizure
2891	GRIA2	HP:0002540	Inability to walk
2891	GRIA2	HP:0000028	Cryptorchidism
2891	GRIA2	HP:0001332	Dystonia
2891	GRIA2	HP:0001344	Absent speech
2891	GRIA2	HP:0000006	Autosomal dominant inheritance
2891	GRIA2	HP:0012171	Stereotypical hand wringing
2891	GRIA2	HP:0002069	Bilateral tonic-clonic seizure
2891	GRIA2	HP:0002066	Gait ataxia
2891	GRIA2	HP:0002072	Chorea
2891	GRIA2	HP:0002059	Cerebral atrophy
2891	GRIA2	HP:0100716	Self-injurious behavior
2891	GRIA2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2891	GRIA2	HP:0000750	Delayed speech and language development
2891	GRIA2	HP:0000729	Autistic behavior
2891	GRIA2	HP:0000253	Progressive microcephaly
2891	GRIA2	HP:0032792	Tonic seizure
2891	GRIA2	HP:0001762	Talipes equinovarus
2892	GRIA3	HP:0002460	Distal muscle weakness
2892	GRIA3	HP:0009909	Uplifted earlobe
2892	GRIA3	HP:0010864	Intellectual disability, severe
2892	GRIA3	HP:0001276	Hypertonia
2892	GRIA3	HP:0001270	Motor delay
2892	GRIA3	HP:0001256	Intellectual disability, mild
2892	GRIA3	HP:0001250	Seizure
2892	GRIA3	HP:0001249	Intellectual disability
2892	GRIA3	HP:0001265	Hyporeflexia
2892	GRIA3	HP:0001263	Global developmental delay
2892	GRIA3	HP:0001257	Spasticity
2892	GRIA3	HP:0000054	Micropenis
2892	GRIA3	HP:0001388	Joint laxity
2892	GRIA3	HP:0001347	Hyperreflexia
2892	GRIA3	HP:0000028	Cryptorchidism
2892	GRIA3	HP:0001328	Specific learning disability
2892	GRIA3	HP:0001336	Myoclonus
2892	GRIA3	HP:0001320	Cerebellar vermis hypoplasia
2892	GRIA3	HP:0002650	Scoliosis
2892	GRIA3	HP:0000189	Narrow palate
2892	GRIA3	HP:0000188	Short upper lip
2892	GRIA3	HP:0000194	Open mouth
2892	GRIA3	HP:0007655	Eversion of lateral third of lower eyelids
2892	GRIA3	HP:0008936	Axial hypotonia
2892	GRIA3	HP:0000126	Hydronephrosis
2892	GRIA3	HP:0001419	X-linked recessive inheritance
2892	GRIA3	HP:0002719	Recurrent infections
2892	GRIA3	HP:0002069	Bilateral tonic-clonic seizure
2892	GRIA3	HP:0002079	Hypoplasia of the corpus callosum
2892	GRIA3	HP:0003487	Babinski sign
2892	GRIA3	HP:0002119	Ventriculomegaly
2892	GRIA3	HP:0002133	Status epilepticus
2892	GRIA3	HP:0003593	Infantile onset
2892	GRIA3	HP:0100716	Self-injurious behavior
2892	GRIA3	HP:0007021	Pain insensitivity
2892	GRIA3	HP:0200085	Limb tremor
2892	GRIA3	HP:0002360	Sleep disturbance
2892	GRIA3	HP:0002342	Intellectual disability, moderate
2892	GRIA3	HP:0006863	Severe expressive language delay
2892	GRIA3	HP:0000675	Macrodontia of permanent maxillary central incisor
2892	GRIA3	HP:0004322	Short stature
2892	GRIA3	HP:0006979	Sleep-wake cycle disturbance
2892	GRIA3	HP:0006951	Retrocerebellar cyst
2892	GRIA3	HP:0006913	Frontal cortical atrophy
2892	GRIA3	HP:0000750	Delayed speech and language development
2892	GRIA3	HP:0000742	Self-mutilation
2892	GRIA3	HP:0000718	Aggressive behavior
2892	GRIA3	HP:0000717	Autism
2892	GRIA3	HP:0000729	Autistic behavior
2892	GRIA3	HP:0000708	Atypical behavior
2892	GRIA3	HP:0000817	Reduced eye contact
2892	GRIA3	HP:0000297	Facial hypotonia
2892	GRIA3	HP:0000256	Macrocephaly
2892	GRIA3	HP:0000272	Malar flattening
2892	GRIA3	HP:0002816	Genu recurvatum
2892	GRIA3	HP:0002808	Kyphosis
2892	GRIA3	HP:0000248	Brachycephaly
2892	GRIA3	HP:0001533	Slender build
2892	GRIA3	HP:0000336	Prominent supraorbital ridges
2892	GRIA3	HP:0000322	Short philtrum
2892	GRIA3	HP:0000303	Mandibular prognathia
2892	GRIA3	HP:0011182	Interictal epileptiform activity
2892	GRIA3	HP:0011167	Focal tonic seizure
2892	GRIA3	HP:0000400	Macrotia
2892	GRIA3	HP:0012471	Thick vermilion border
2892	GRIA3	HP:0000490	Deeply set eye
2892	GRIA3	HP:0030236	Abnormality of muscle size
2892	GRIA3	HP:0001763	Pes planus
2892	GRIA3	HP:0000508	Ptosis
2893	GRIA4	HP:0001276	Hypertonia
2893	GRIA4	HP:0001250	Seizure
2893	GRIA4	HP:0001249	Intellectual disability
2893	GRIA4	HP:0001263	Global developmental delay
2893	GRIA4	HP:0001257	Spasticity
2893	GRIA4	HP:0002540	Inability to walk
2893	GRIA4	HP:0002510	Spastic tetraplegia
2893	GRIA4	HP:0001344	Absent speech
2893	GRIA4	HP:0000006	Autosomal dominant inheritance
2893	GRIA4	HP:0001319	Neonatal hypotonia
2893	GRIA4	HP:0011800	Midface retrusion
2893	GRIA4	HP:0002079	Hypoplasia of the corpus callosum
2893	GRIA4	HP:0002072	Chorea
2893	GRIA4	HP:0002120	Cerebral cortical atrophy
2893	GRIA4	HP:0002133	Status epilepticus
2893	GRIA4	HP:0002267	Exaggerated startle response
2893	GRIA4	HP:0003593	Infantile onset
2893	GRIA4	HP:0011968	Feeding difficulties
2893	GRIA4	HP:0010845	EEG with generalized slow activity
2893	GRIA4	HP:0000639	Nystagmus
2893	GRIA4	HP:0000609	Optic nerve hypoplasia
2893	GRIA4	HP:0004322	Short stature
2893	GRIA4	HP:0031936	Delayed ability to walk
2893	GRIA4	HP:0000737	Irritability
2893	GRIA4	HP:0000736	Short attention span
2893	GRIA4	HP:0034392	Joint contracture
2893	GRIA4	HP:0000252	Microcephaly
2893	GRIA4	HP:0001508	Failure to thrive
2893	GRIA4	HP:0000322	Short philtrum
2893	GRIA4	HP:0000303	Mandibular prognathia
2893	GRIA4	HP:0000400	Macrotia
2893	GRIA4	HP:0000486	Strabismus
2895	GRID2	HP:0001290	Generalized hypotonia
2895	GRID2	HP:0001272	Cerebellar atrophy
2895	GRID2	HP:0001252	Hypotonia
2895	GRID2	HP:0001251	Ataxia
2895	GRID2	HP:0001249	Intellectual disability
2895	GRID2	HP:0001260	Dysarthria
2895	GRID2	HP:0001263	Global developmental delay
2895	GRID2	HP:0001371	Flexion contracture
2895	GRID2	HP:0001347	Hyperreflexia
2895	GRID2	HP:0000007	Autosomal recessive inheritance
2895	GRID2	HP:0001310	Dysmetria
2895	GRID2	HP:0100543	Cognitive impairment
2895	GRID2	HP:0002066	Gait ataxia
2895	GRID2	HP:0002078	Truncal ataxia
2895	GRID2	HP:0002075	Dysdiadochokinesis
2895	GRID2	HP:0002070	Limb ataxia
2895	GRID2	HP:0003487	Babinski sign
2895	GRID2	HP:0002167	Abnormality of speech or vocalization
2895	GRID2	HP:0003593	Infantile onset
2895	GRID2	HP:0002355	Difficulty walking
2895	GRID2	HP:0002311	Incoordination
2895	GRID2	HP:0006855	Cerebellar vermis atrophy
2895	GRID2	HP:0000640	Gaze-evoked nystagmus
2895	GRID2	HP:0000639	Nystagmus
2895	GRID2	HP:0000657	Oculomotor apraxia
2895	GRID2	HP:0000666	Horizontal nystagmus
2895	GRID2	HP:0004302	Functional motor deficit
2895	GRID2	HP:0000750	Delayed speech and language development
2895	GRID2	HP:0012444	Brain atrophy
2895	GRID2	HP:0000565	Esotropia
2895	GRID2	HP:0000543	Optic disc pallor
2896	GRN	HP:0002493	Upper motor neuron dysfunction
2896	GRN	HP:0002465	Poor speech
2896	GRN	HP:0002442	Dyscalculia
2896	GRN	HP:0002446	Astrocytosis
2896	GRN	HP:0002427	Expressive aphasia
2896	GRN	HP:0001297	Stroke
2896	GRN	HP:0001272	Cerebellar atrophy
2896	GRN	HP:0001268	Mental deterioration
2896	GRN	HP:0001288	Gait disturbance
2896	GRN	HP:0001250	Seizure
2896	GRN	HP:0001251	Ataxia
2896	GRN	HP:0002591	Polyphagia
2896	GRN	HP:0008762	Repetitive compulsive behavior
2896	GRN	HP:0002529	Neuronal loss in central nervous system
2896	GRN	HP:0002500	Abnormal cerebral white matter morphology
2896	GRN	HP:0001347	Hyperreflexia
2896	GRN	HP:0012001	EEG with generalized polyspikes
2896	GRN	HP:0000007	Autosomal recessive inheritance
2896	GRN	HP:0000006	Autosomal dominant inheritance
2896	GRN	HP:0001300	Parkinsonism
2896	GRN	HP:0002069	Bilateral tonic-clonic seizure
2896	GRN	HP:0002071	Abnormality of extrapyramidal motor function
2896	GRN	HP:0002145	Frontotemporal dementia
2896	GRN	HP:0002123	Generalized myoclonic seizure
2896	GRN	HP:0002120	Cerebral cortical atrophy
2896	GRN	HP:0002186	Apraxia
2896	GRN	HP:0002185	Neurofibrillary tangles
2896	GRN	HP:0002167	Abnormality of speech or vocalization
2896	GRN	HP:0002171	Gliosis
2896	GRN	HP:0010529	Echolalia
2896	GRN	HP:0010522	Dyslexia
2896	GRN	HP:0010526	Dysgraphia
2896	GRN	HP:0010523	Alexia
2896	GRN	HP:0007064	Progressive language deterioration
2896	GRN	HP:0002380	Fasciculations
2896	GRN	HP:0002381	Aphasia
2896	GRN	HP:0002366	Abnormal lower motor neuron morphology
2896	GRN	HP:0002371	Loss of speech
2896	GRN	HP:0002354	Memory impairment
2896	GRN	HP:0003678	Rapidly progressive
2896	GRN	HP:0007112	Temporal cortical atrophy
2896	GRN	HP:0002300	Mutism
2896	GRN	HP:0006892	Frontotemporal cerebral atrophy
2896	GRN	HP:0000648	Optic atrophy
2896	GRN	HP:0012671	Abulia
2896	GRN	HP:0012658	Abnormal brain FDG positron emission tomography
2896	GRN	HP:0006977	Deficit in grammar
2896	GRN	HP:0006956	Lateral ventricle dilatation
2896	GRN	HP:0030692	Brain neoplasm
2896	GRN	HP:0000757	Lack of insight
2896	GRN	HP:0000751	Personality changes
2896	GRN	HP:0000738	Hallucinations
2896	GRN	HP:0000737	Irritability
2896	GRN	HP:0000739	Anxiety
2896	GRN	HP:0000734	Disinhibition
2896	GRN	HP:0000733	Abnormal repetitive mannerisms
2896	GRN	HP:0000741	Apathy
2896	GRN	HP:0000719	Inappropriate behavior
2896	GRN	HP:0000716	Depression
2896	GRN	HP:0000718	Aggressive behavior
2896	GRN	HP:0000711	Restlessness
2896	GRN	HP:0000713	Agitation
2896	GRN	HP:0000710	Hyperorality
2896	GRN	HP:0000726	Dementia
2896	GRN	HP:0000723	Restrictive behavior
2896	GRN	HP:0000709	Psychosis
2896	GRN	HP:0000708	Atypical behavior
2896	GRN	HP:0030784	Anomic aphasia
2896	GRN	HP:0100315	Lewy bodies
2896	GRN	HP:0100256	Senile plaques
2896	GRN	HP:0030214	Hypersexuality
2896	GRN	HP:0030213	Emotional blunting
2896	GRN	HP:0030212	Collectionism
2896	GRN	HP:0030223	Manifestations of perseverative thought or action
2896	GRN	HP:0030222	Visual agnosia
2896	GRN	HP:0012444	Brain atrophy
2896	GRN	HP:0000474	Thickened nuchal skin fold
2896	GRN	HP:0025709	Intermediate young adult onset
2896	GRN	HP:0000505	Visual impairment
2896	GRN	HP:0000556	Retinal dystrophy
2896	GRN	HP:0011204	EEG with continuous slow activity
2896	GRN	HP:0030391	Spoken word recognition deficit
2898	GRIK2	HP:0001188	Hand clenching
2898	GRIK2	HP:0020221	Clonic seizure
2898	GRIK2	HP:0001298	Encephalopathy
2898	GRIK2	HP:0001290	Generalized hypotonia
2898	GRIK2	HP:0001272	Cerebellar atrophy
2898	GRIK2	HP:0001270	Motor delay
2898	GRIK2	HP:0001256	Intellectual disability, mild
2898	GRIK2	HP:0001252	Hypotonia
2898	GRIK2	HP:0001251	Ataxia
2898	GRIK2	HP:0001249	Intellectual disability
2898	GRIK2	HP:0001266	Choreoathetosis
2898	GRIK2	HP:0001263	Global developmental delay
2898	GRIK2	HP:0002540	Inability to walk
2898	GRIK2	HP:0002509	Limb hypertonia
2898	GRIK2	HP:0025336	Delayed ability to sit
2898	GRIK2	HP:0033725	Thin corpus callosum
2898	GRIK2	HP:0001344	Absent speech
2898	GRIK2	HP:0000007	Autosomal recessive inheritance
2898	GRIK2	HP:0000006	Autosomal dominant inheritance
2898	GRIK2	HP:0001336	Myoclonus
2898	GRIK2	HP:0008936	Axial hypotonia
2898	GRIK2	HP:0002069	Bilateral tonic-clonic seizure
2898	GRIK2	HP:0002066	Gait ataxia
2898	GRIK2	HP:0002119	Ventriculomegaly
2898	GRIK2	HP:0003429	CNS hypomyelination
2898	GRIK2	HP:0002104	Apnea
2898	GRIK2	HP:0002188	Delayed CNS myelination
2898	GRIK2	HP:0002179	Opisthotonus
2898	GRIK2	HP:0002174	Postural tremor
2898	GRIK2	HP:0010529	Echolalia
2898	GRIK2	HP:0003593	Infantile onset
2898	GRIK2	HP:0100703	Tongue thrusting
2898	GRIK2	HP:0100704	Cerebral visual impairment
2898	GRIK2	HP:0100710	Impulsivity
2898	GRIK2	HP:0007018	Attention deficit hyperactivity disorder
2898	GRIK2	HP:0002384	Focal impaired awareness seizure
2898	GRIK2	HP:0010819	Atonic seizure
2898	GRIK2	HP:0010808	Protruding tongue
2898	GRIK2	HP:0003623	Neonatal onset
2898	GRIK2	HP:0002307	Drooling
2898	GRIK2	HP:0004305	Involuntary movements
2898	GRIK2	HP:0006934	Congenital nystagmus
2898	GRIK2	HP:0031936	Delayed ability to walk
2898	GRIK2	HP:0100023	Recurrent hand flapping
2898	GRIK2	HP:0000739	Anxiety
2898	GRIK2	HP:0000736	Short attention span
2898	GRIK2	HP:0000735	Impaired social interactions
2898	GRIK2	HP:0000750	Delayed speech and language development
2898	GRIK2	HP:0000749	Paroxysmal bursts of laughter
2898	GRIK2	HP:0000718	Aggressive behavior
2898	GRIK2	HP:0000712	Emotional lability
2898	GRIK2	HP:0000729	Autistic behavior
2898	GRIK2	HP:0040082	Happy demeanor
2898	GRIK2	HP:0000961	Cyanosis
2898	GRIK2	HP:0000252	Microcephaly
2898	GRIK2	HP:0011097	Epileptic spasm
2898	GRIK2	HP:0007859	Congenital horizontal nystagmus
2898	GRIK2	HP:0030186	Kinetic tremor
2898	GRIK2	HP:0000365	Hearing impairment
2898	GRIK2	HP:0032792	Tonic seizure
2898	GRIK2	HP:0032794	Myoclonic seizure
2898	GRIK2	HP:0000486	Strabismus
2898	GRIK2	HP:0000473	Torticollis
2898	GRIK2	HP:0012510	Extra-axial cerebrospinal fluid accumulation
2902	GRIN1	HP:0002487	Hyperkinetic movements
2902	GRIN1	HP:0025100	Abnormal hippocampus morphology
2902	GRIN1	HP:0010864	Intellectual disability, severe
2902	GRIN1	HP:0010851	EEG with burst suppression
2902	GRIN1	HP:0010850	EEG with spike-wave complexes
2902	GRIN1	HP:0002421	Poor head control
2902	GRIN1	HP:0003763	Bruxism
2902	GRIN1	HP:0001272	Cerebellar atrophy
2902	GRIN1	HP:0001256	Intellectual disability, mild
2902	GRIN1	HP:0001250	Seizure
2902	GRIN1	HP:0001252	Hypotonia
2902	GRIN1	HP:0001249	Intellectual disability
2902	GRIN1	HP:0001266	Choreoathetosis
2902	GRIN1	HP:0001263	Global developmental delay
2902	GRIN1	HP:0001257	Spasticity
2902	GRIN1	HP:0007359	Focal-onset seizure
2902	GRIN1	HP:0002540	Inability to walk
2902	GRIN1	HP:0002521	Hypsarrhythmia
2902	GRIN1	HP:0002510	Spastic tetraplegia
2902	GRIN1	HP:0002506	Diffuse cerebral atrophy
2902	GRIN1	HP:0000070	Ureterocele
2902	GRIN1	HP:0025336	Delayed ability to sit
2902	GRIN1	HP:0000054	Micropenis
2902	GRIN1	HP:0001347	Hyperreflexia
2902	GRIN1	HP:0001332	Dystonia
2902	GRIN1	HP:0001344	Absent speech
2902	GRIN1	HP:0000007	Autosomal recessive inheritance
2902	GRIN1	HP:0001337	Tremor
2902	GRIN1	HP:0000006	Autosomal dominant inheritance
2902	GRIN1	HP:0001336	Myoclonus
2902	GRIN1	HP:0001302	Pachygyria
2902	GRIN1	HP:0002650	Scoliosis
2902	GRIN1	HP:0012171	Stereotypical hand wringing
2902	GRIN1	HP:0000175	Cleft palate
2902	GRIN1	HP:0008947	Infantile muscular hypotonia
2902	GRIN1	HP:0008936	Axial hypotonia
2902	GRIN1	HP:0000110	Renal dysplasia
2902	GRIN1	HP:0002020	Gastroesophageal reflux
2902	GRIN1	HP:0002019	Constipation
2902	GRIN1	HP:0002007	Frontal bossing
2902	GRIN1	HP:0011800	Midface retrusion
2902	GRIN1	HP:0002069	Bilateral tonic-clonic seizure
2902	GRIN1	HP:0002079	Hypoplasia of the corpus callosum
2902	GRIN1	HP:0002072	Chorea
2902	GRIN1	HP:0002059	Cerebral atrophy
2902	GRIN1	HP:0040288	Nasogastric tube feeding
2902	GRIN1	HP:0002123	Generalized myoclonic seizure
2902	GRIN1	HP:0002120	Cerebral cortical atrophy
2902	GRIN1	HP:0002121	Generalized non-motor (absence) seizure
2902	GRIN1	HP:0002119	Ventriculomegaly
2902	GRIN1	HP:0002133	Status epilepticus
2902	GRIN1	HP:0002131	Episodic ataxia
2902	GRIN1	HP:0002126	Polymicrogyria
2902	GRIN1	HP:0002104	Apnea
2902	GRIN1	HP:0002187	Intellectual disability, profound
2902	GRIN1	HP:0002197	Generalized-onset seizure
2902	GRIN1	HP:0002194	Delayed gross motor development
2902	GRIN1	HP:0002179	Opisthotonus
2902	GRIN1	HP:0010553	Oculogyric crisis
2902	GRIN1	HP:0003593	Infantile onset
2902	GRIN1	HP:0003577	Congenital onset
2902	GRIN1	HP:0100704	Cerebral visual impairment
2902	GRIN1	HP:0100716	Self-injurious behavior
2902	GRIN1	HP:0200136	Oral-pharyngeal dysphagia
2902	GRIN1	HP:0200134	Epileptic encephalopathy
2902	GRIN1	HP:0011968	Feeding difficulties
2902	GRIN1	HP:0002384	Focal impaired awareness seizure
2902	GRIN1	HP:0002360	Sleep disturbance
2902	GRIN1	HP:0002376	Developmental regression
2902	GRIN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2902	GRIN1	HP:0002342	Intellectual disability, moderate
2902	GRIN1	HP:0002353	EEG abnormality
2902	GRIN1	HP:0007204	Diffuse white matter abnormalities
2902	GRIN1	HP:0025097	Eyelid myoclonus
2902	GRIN1	HP:0100660	Dyskinesia
2902	GRIN1	HP:0010821	Focal emotional seizure with laughing
2902	GRIN1	HP:0010819	Atonic seizure
2902	GRIN1	HP:0010818	Generalized tonic seizure
2902	GRIN1	HP:0007166	Paroxysmal dyskinesia
2902	GRIN1	HP:0002300	Mutism
2902	GRIN1	HP:0003623	Neonatal onset
2902	GRIN1	HP:0006829	Severe muscular hypotonia
2902	GRIN1	HP:0011344	Severe global developmental delay
2902	GRIN1	HP:0004322	Short stature
2902	GRIN1	HP:0006956	Lateral ventricle dilatation
2902	GRIN1	HP:0004305	Involuntary movements
2902	GRIN1	HP:0031936	Delayed ability to walk
2902	GRIN1	HP:0000752	Hyperactivity
2902	GRIN1	HP:0012736	Profound global developmental delay
2902	GRIN1	HP:0100022	Abnormality of movement
2902	GRIN1	HP:0000733	Abnormal repetitive mannerisms
2902	GRIN1	HP:0000735	Impaired social interactions
2902	GRIN1	HP:0000748	Inappropriate laughter
2902	GRIN1	HP:0012704	Widened subarachnoid space
2902	GRIN1	HP:0000729	Autistic behavior
2902	GRIN1	HP:0000708	Atypical behavior
2902	GRIN1	HP:0010174	Broad phalanx of the toes
2902	GRIN1	HP:0003121	Limb joint contracture
2902	GRIN1	HP:0000826	Precocious puberty
2902	GRIN1	HP:0000954	Single transverse palmar crease
2902	GRIN1	HP:0009381	Short finger
2902	GRIN1	HP:0000276	Long face
2902	GRIN1	HP:0000252	Microcephaly
2902	GRIN1	HP:0025517	Hypoplastic hippocampus
2902	GRIN1	HP:0002870	Obstructive sleep apnea
2902	GRIN1	HP:0001537	Umbilical hernia
2902	GRIN1	HP:0001508	Failure to thrive
2902	GRIN1	HP:0001500	Broad finger
2902	GRIN1	HP:0001510	Growth delay
2902	GRIN1	HP:0007824	Total ophthalmoplegia
2902	GRIN1	HP:0011097	Epileptic spasm
2902	GRIN1	HP:0005216	Impaired mastication
2902	GRIN1	HP:0000340	Sloping forehead
2902	GRIN1	HP:0032794	Myoclonic seizure
2902	GRIN1	HP:0001662	Bradycardia
2902	GRIN1	HP:0001629	Ventricular septal defect
2902	GRIN1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
2902	GRIN1	HP:0011169	Generalized clonic seizure
2902	GRIN1	HP:0011147	Typical absence seizure
2902	GRIN1	HP:0011153	Focal motor seizure
2902	GRIN1	HP:0001709	Third degree atrioventricular block
2902	GRIN1	HP:0005280	Depressed nasal bridge
2902	GRIN1	HP:0000486	Strabismus
2902	GRIN1	HP:0012469	Infantile spasms
2902	GRIN1	HP:0000490	Deeply set eye
2902	GRIN1	HP:0000463	Anteverted nares
2902	GRIN1	HP:0012448	Delayed myelination
2902	GRIN1	HP:0012554	Absent thumbnail
2903	GRIN2A	HP:0002487	Hyperkinetic movements
2903	GRIN2A	HP:0002463	Language impairment
2903	GRIN2A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
2903	GRIN2A	HP:0007270	Atypical absence seizure
2903	GRIN2A	HP:0010864	Intellectual disability, severe
2903	GRIN2A	HP:0002421	Poor head control
2903	GRIN2A	HP:0001276	Hypertonia
2903	GRIN2A	HP:0001250	Seizure
2903	GRIN2A	HP:0001252	Hypotonia
2903	GRIN2A	HP:0001249	Intellectual disability
2903	GRIN2A	HP:0001265	Hyporeflexia
2903	GRIN2A	HP:0001260	Dysarthria
2903	GRIN2A	HP:0001263	Global developmental delay
2903	GRIN2A	HP:0007359	Focal-onset seizure
2903	GRIN2A	HP:0007332	Focal hemifacial clonic seizure
2903	GRIN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset
2903	GRIN2A	HP:0002546	Incomprehensible speech
2903	GRIN2A	HP:0003829	Typified by incomplete penetrance
2903	GRIN2A	HP:0002506	Diffuse cerebral atrophy
2903	GRIN2A	HP:0025373	Interictal EEG abnormality
2903	GRIN2A	HP:0012015	EEG with frontal focal spikes
2903	GRIN2A	HP:0012018	EEG with temporal focal spikes
2903	GRIN2A	HP:0001350	Slurred speech
2903	GRIN2A	HP:0012010	EEG with frontal focal spike waves
2903	GRIN2A	HP:0001345	Psychotic mentation
2903	GRIN2A	HP:0012001	EEG with generalized polyspikes
2903	GRIN2A	HP:0001332	Dystonia
2903	GRIN2A	HP:0001328	Specific learning disability
2903	GRIN2A	HP:0001326	EEG with irregular generalized spike and wave complexes
2903	GRIN2A	HP:0000006	Autosomal dominant inheritance
2903	GRIN2A	HP:0001336	Myoclonus
2903	GRIN2A	HP:0012171	Stereotypical hand wringing
2903	GRIN2A	HP:0025425	Laryngospasm
2903	GRIN2A	HP:0008947	Infantile muscular hypotonia
2903	GRIN2A	HP:0100543	Cognitive impairment
2903	GRIN2A	HP:0002069	Bilateral tonic-clonic seizure
2903	GRIN2A	HP:0002066	Gait ataxia
2903	GRIN2A	HP:0002079	Hypoplasia of the corpus callosum
2903	GRIN2A	HP:0002076	Migraine
2903	GRIN2A	HP:0003376	Steppage gait
2903	GRIN2A	HP:0002121	Generalized non-motor (absence) seizure
2903	GRIN2A	HP:0010535	Sleep apnea
2903	GRIN2A	HP:0003401	Paresthesia
2903	GRIN2A	HP:0002266	Focal clonic seizure
2903	GRIN2A	HP:0100710	Impulsivity
2903	GRIN2A	HP:0200134	Epileptic encephalopathy
2903	GRIN2A	HP:0007018	Attention deficit hyperactivity disorder
2903	GRIN2A	HP:0007086	Social and occupational deterioration
2903	GRIN2A	HP:0002384	Focal impaired awareness seizure
2903	GRIN2A	HP:0002381	Aphasia
2903	GRIN2A	HP:0003698	Difficulty standing
2903	GRIN2A	HP:0002360	Sleep disturbance
2903	GRIN2A	HP:0002359	Frequent falls
2903	GRIN2A	HP:0002376	Developmental regression
2903	GRIN2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2903	GRIN2A	HP:0002371	Loss of speech
2903	GRIN2A	HP:0002342	Intellectual disability, moderate
2903	GRIN2A	HP:0002354	Memory impairment
2903	GRIN2A	HP:0002349	Focal aware seizure
2903	GRIN2A	HP:0002333	Motor deterioration
2903	GRIN2A	HP:0010844	EEG with multifocal slow activity
2903	GRIN2A	HP:0010819	Atonic seizure
2903	GRIN2A	HP:0010818	Generalized tonic seizure
2903	GRIN2A	HP:0002300	Mutism
2903	GRIN2A	HP:0002312	Clumsiness
2903	GRIN2A	HP:0002307	Drooling
2903	GRIN2A	HP:0006813	Focal hemiclonic seizure
2903	GRIN2A	HP:0009088	Speech articulation difficulties
2903	GRIN2A	HP:0006889	Intellectual disability, borderline
2903	GRIN2A	HP:0009062	Infantile axial hypotonia
2903	GRIN2A	HP:0001999	Abnormal facial shape
2903	GRIN2A	HP:0004322	Short stature
2903	GRIN2A	HP:0031951	Nocturnal seizures
2903	GRIN2A	HP:0000752	Hyperactivity
2903	GRIN2A	HP:0012736	Profound global developmental delay
2903	GRIN2A	HP:0000739	Anxiety
2903	GRIN2A	HP:0000736	Short attention span
2903	GRIN2A	HP:0000750	Delayed speech and language development
2903	GRIN2A	HP:0000716	Depression
2903	GRIN2A	HP:0000718	Aggressive behavior
2903	GRIN2A	HP:0000712	Emotional lability
2903	GRIN2A	HP:0000729	Autistic behavior
2903	GRIN2A	HP:0000708	Atypical behavior
2903	GRIN2A	HP:0011451	Primary microcephaly
2903	GRIN2A	HP:0003196	Short nose
2903	GRIN2A	HP:0010300	Abnormally low-pitched voice
2903	GRIN2A	HP:0030057	Autoimmune antibody positivity
2903	GRIN2A	HP:0032671	Non-convulsive status epilepticus without coma
2903	GRIN2A	HP:0001518	Small for gestational age
2903	GRIN2A	HP:0011097	Epileptic spasm
2903	GRIN2A	HP:0011098	Speech apraxia
2903	GRIN2A	HP:0001611	Hypernasal speech
2903	GRIN2A	HP:0031434	Abnormal prosody
2903	GRIN2A	HP:0031491	Continuous spike and waves during slow sleep
2903	GRIN2A	HP:0011196	EEG with focal sharp waves
2903	GRIN2A	HP:0011198	EEG with generalized epileptiform discharges
2903	GRIN2A	HP:0011182	Interictal epileptiform activity
2903	GRIN2A	HP:0011169	Generalized clonic seizure
2903	GRIN2A	HP:0011166	Focal myoclonic seizure
2903	GRIN2A	HP:0011147	Typical absence seizure
2903	GRIN2A	HP:0011150	Myoclonic absence seizure
2903	GRIN2A	HP:0011153	Focal motor seizure
2903	GRIN2A	HP:0012447	Abnormal myelination
2903	GRIN2A	HP:0001761	Pes cavus
2903	GRIN2A	HP:0005484	Secondary microcephaly
2903	GRIN2A	HP:0012557	EEG with centrotemporal focal spike waves
2903	GRIN2A	HP:0012547	Abnormal involuntary eye movements
2903	GRIN2A	HP:0012534	Dysesthesia
2903	GRIN2A	HP:0030391	Spoken word recognition deficit
2904	GRIN2B	HP:0001290	Generalized hypotonia
2904	GRIN2B	HP:0001250	Seizure
2904	GRIN2B	HP:0001252	Hypotonia
2904	GRIN2B	HP:0001249	Intellectual disability
2904	GRIN2B	HP:0001263	Global developmental delay
2904	GRIN2B	HP:0001257	Spasticity
2904	GRIN2B	HP:0002521	Hypsarrhythmia
2904	GRIN2B	HP:0025336	Delayed ability to sit
2904	GRIN2B	HP:0000023	Inguinal hernia
2904	GRIN2B	HP:0000028	Cryptorchidism
2904	GRIN2B	HP:0001332	Dystonia
2904	GRIN2B	HP:0001344	Absent speech
2904	GRIN2B	HP:0000006	Autosomal dominant inheritance
2904	GRIN2B	HP:0001336	Myoclonus
2904	GRIN2B	HP:0008936	Axial hypotonia
2904	GRIN2B	HP:0002069	Bilateral tonic-clonic seizure
2904	GRIN2B	HP:0002072	Chorea
2904	GRIN2B	HP:0002133	Status epilepticus
2904	GRIN2B	HP:0003593	Infantile onset
2904	GRIN2B	HP:0200134	Epileptic encephalopathy
2904	GRIN2B	HP:0011968	Feeding difficulties
2904	GRIN2B	HP:0002384	Focal impaired awareness seizure
2904	GRIN2B	HP:0002376	Developmental regression
2904	GRIN2B	HP:0002353	EEG abnormality
2904	GRIN2B	HP:0100660	Dyskinesia
2904	GRIN2B	HP:0000707	Abnormality of the nervous system
2904	GRIN2B	HP:0000821	Hypothyroidism
2904	GRIN2B	HP:0040196	Mild microcephaly
2904	GRIN2B	HP:0000252	Microcephaly
2904	GRIN2B	HP:0011097	Epileptic spasm
2904	GRIN2B	HP:0032794	Myoclonic seizure
2904	GRIN2B	HP:0012469	Infantile spasms
2904	GRIN2B	HP:0011121	Abnormality of skin morphology
2904	GRIN2B	HP:0001763	Pes planus
2904	GRIN2B	HP:0000453	Choanal atresia
2906	GRIN2D	HP:0002421	Poor head control
2906	GRIN2D	HP:0001298	Encephalopathy
2906	GRIN2D	HP:0001290	Generalized hypotonia
2906	GRIN2D	HP:0001273	Abnormal corpus callosum morphology
2906	GRIN2D	HP:0001268	Mental deterioration
2906	GRIN2D	HP:0001250	Seizure
2906	GRIN2D	HP:0001251	Ataxia
2906	GRIN2D	HP:0001249	Intellectual disability
2906	GRIN2D	HP:0001265	Hyporeflexia
2906	GRIN2D	HP:0001263	Global developmental delay
2906	GRIN2D	HP:0001257	Spasticity
2906	GRIN2D	HP:0002521	Hypsarrhythmia
2906	GRIN2D	HP:0002509	Limb hypertonia
2906	GRIN2D	HP:0001344	Absent speech
2906	GRIN2D	HP:0001337	Tremor
2906	GRIN2D	HP:0000006	Autosomal dominant inheritance
2906	GRIN2D	HP:0001336	Myoclonus
2906	GRIN2D	HP:0001315	Reduced tendon reflexes
2906	GRIN2D	HP:0008936	Axial hypotonia
2906	GRIN2D	HP:0002020	Gastroesophageal reflux
2906	GRIN2D	HP:0002015	Dysphagia
2906	GRIN2D	HP:0002063	Rigidity
2906	GRIN2D	HP:0002059	Cerebral atrophy
2906	GRIN2D	HP:0002133	Status epilepticus
2906	GRIN2D	HP:0002197	Generalized-onset seizure
2906	GRIN2D	HP:0003593	Infantile onset
2906	GRIN2D	HP:0100704	Cerebral visual impairment
2906	GRIN2D	HP:0100710	Impulsivity
2906	GRIN2D	HP:0200134	Epileptic encephalopathy
2906	GRIN2D	HP:0007018	Attention deficit hyperactivity disorder
2906	GRIN2D	HP:0011968	Feeding difficulties
2906	GRIN2D	HP:0002376	Developmental regression
2906	GRIN2D	HP:0002355	Difficulty walking
2906	GRIN2D	HP:0002317	Unsteady gait
2906	GRIN2D	HP:0010844	EEG with multifocal slow activity
2906	GRIN2D	HP:0100660	Dyskinesia
2906	GRIN2D	HP:0003623	Neonatal onset
2906	GRIN2D	HP:0002307	Drooling
2906	GRIN2D	HP:0000639	Nystagmus
2906	GRIN2D	HP:0000648	Optic atrophy
2906	GRIN2D	HP:0000668	Hypodontia
2906	GRIN2D	HP:0004322	Short stature
2906	GRIN2D	HP:0004305	Involuntary movements
2906	GRIN2D	HP:0000750	Delayed speech and language development
2906	GRIN2D	HP:0000717	Autism
2906	GRIN2D	HP:0000708	Atypical behavior
2906	GRIN2D	HP:0011443	Abnormality of coordination
2906	GRIN2D	HP:0000252	Microcephaly
2906	GRIN2D	HP:0001558	Decreased fetal movement
2906	GRIN2D	HP:0001508	Failure to thrive
2906	GRIN2D	HP:0000348	High forehead
2906	GRIN2D	HP:0000494	Downslanted palpebral fissures
2906	GRIN2D	HP:0012444	Brain atrophy
2906	GRIN2D	HP:0012447	Abnormal myelination
2906	GRIN2D	HP:0001763	Pes planus
2906	GRIN2D	HP:0000508	Ptosis
2906	GRIN2D	HP:0000504	Abnormality of vision
2906	GRIN2D	HP:0012547	Abnormal involuntary eye movements
2906	GRIN2D	HP:0000546	Retinal degeneration
2908	NR3C1	HP:0001123	Visual field defect
2908	NR3C1	HP:0010885	Avascular necrosis
2908	NR3C1	HP:0001297	Stroke
2908	NR3C1	HP:0025269	Panic attack
2908	NR3C1	HP:0025383	Dorsocervical fat pad
2908	NR3C1	HP:0025380	Increased circulating androstenedione concentration
2908	NR3C1	HP:0000062	Ambiguous genitalia
2908	NR3C1	HP:0012030	Increased urinary cortisol level
2908	NR3C1	HP:0002690	Large sella turcica
2908	NR3C1	HP:0001324	Muscle weakness
2908	NR3C1	HP:0000006	Autosomal dominant inheritance
2908	NR3C1	HP:0000141	Amenorrhea
2908	NR3C1	HP:0031284	Flushing
2908	NR3C1	HP:0500011	Moon facies
2908	NR3C1	HP:0002721	Immunodeficiency
2908	NR3C1	HP:0002086	Abnormality of the respiratory system
2908	NR3C1	HP:0040270	Impaired glucose tolerance
2908	NR3C1	HP:0010458	Female pseudohermaphroditism
2908	NR3C1	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
2908	NR3C1	HP:0008221	Adrenal hyperplasia
2908	NR3C1	HP:0008291	Pituitary corticotropic cell adenoma
2908	NR3C1	HP:0200114	Metabolic alkalosis
2908	NR3C1	HP:0002209	Sparse scalp hair
2908	NR3C1	HP:0002292	Frontal balding
2908	NR3C1	HP:0011999	Paranoia
2908	NR3C1	HP:0001058	Poor wound healing
2908	NR3C1	HP:0001050	Plethora
2908	NR3C1	HP:0025017	Capillary fragility
2908	NR3C1	HP:0001065	Striae distensae
2908	NR3C1	HP:0001061	Acne
2908	NR3C1	HP:0001007	Hirsutism
2908	NR3C1	HP:0002354	Memory impairment
2908	NR3C1	HP:0002315	Headache
2908	NR3C1	HP:0200042	Skin ulcer
2908	NR3C1	HP:0007126	Proximal amyotrophy
2908	NR3C1	HP:0010741	Pedal edema
2908	NR3C1	HP:0031845	Abnormal libido
2908	NR3C1	HP:0031891	Decreased eosinophil count
2908	NR3C1	HP:0001974	Leukocytosis
2908	NR3C1	HP:0001943	Hypoglycemia
2908	NR3C1	HP:0001956	Truncal obesity
2908	NR3C1	HP:0011370	Recurrent cutaneous fungal infections
2908	NR3C1	HP:0004324	Increased body weight
2908	NR3C1	HP:0004319	Decreased circulating aldosterone level
2908	NR3C1	HP:0012743	Abdominal obesity
2908	NR3C1	HP:0000739	Anxiety
2908	NR3C1	HP:0000716	Depression
2908	NR3C1	HP:0000712	Emotional lability
2908	NR3C1	HP:0000726	Dementia
2908	NR3C1	HP:0000725	Psychotic episodes
2908	NR3C1	HP:0000709	Psychosis
2908	NR3C1	HP:0000708	Atypical behavior
2908	NR3C1	HP:0011462	Young adult onset
2908	NR3C1	HP:0000798	Oligospermia
2908	NR3C1	HP:0000789	Infertility
2908	NR3C1	HP:0003118	Increased circulating cortisol level
2908	NR3C1	HP:0003154	Increased circulating ACTH level
2908	NR3C1	HP:0000876	Oligomenorrhea
2908	NR3C1	HP:0000858	Irregular menstruation
2908	NR3C1	HP:0000869	Secondary amenorrhea
2908	NR3C1	HP:0000819	Diabetes mellitus
2908	NR3C1	HP:0000826	Precocious puberty
2908	NR3C1	HP:0000822	Hypertension
2908	NR3C1	HP:0010284	Intra-oral hyperpigmentation
2908	NR3C1	HP:0000979	Purpura
2908	NR3C1	HP:0000978	Bruising susceptibility
2908	NR3C1	HP:0000953	Hyperpigmentation of the skin
2908	NR3C1	HP:0000963	Thin skin
2908	NR3C1	HP:0000939	Osteoporosis
2908	NR3C1	HP:0030087	Abnormal circulating testosterone concentration
2908	NR3C1	HP:0030088	Increased serum testosterone level
2908	NR3C1	HP:0031364	Ecchymosis
2908	NR3C1	HP:0007807	Optic nerve compression
2908	NR3C1	HP:0012378	Fatigue
2908	NR3C1	HP:0030200	Fatiguable weakness of proximal limb muscles
2908	NR3C1	HP:0002900	Hypokalemia
2908	NR3C1	HP:0001658	Myocardial infarction
2908	NR3C1	HP:0001626	Abnormality of the cardiovascular system
2908	NR3C1	HP:0002953	Vertebral compression fracture
2908	NR3C1	HP:0031589	Suicidal ideation
2908	NR3C1	HP:0001888	Lymphopenia
2911	GRM1	HP:0007256	Abnormal pyramidal sign
2911	GRM1	HP:0002406	Limb dysmetria
2911	GRM1	HP:0001272	Cerebellar atrophy
2911	GRM1	HP:0001271	Polyneuropathy
2911	GRM1	HP:0001270	Motor delay
2911	GRM1	HP:0001250	Seizure
2911	GRM1	HP:0001251	Ataxia
2911	GRM1	HP:0001249	Intellectual disability
2911	GRM1	HP:0001260	Dysarthria
2911	GRM1	HP:0001263	Global developmental delay
2911	GRM1	HP:0001257	Spasticity
2911	GRM1	HP:0007338	Hypermetric saccades
2911	GRM1	HP:0002540	Inability to walk
2911	GRM1	HP:0001348	Brisk reflexes
2911	GRM1	HP:0001347	Hyperreflexia
2911	GRM1	HP:0001344	Absent speech
2911	GRM1	HP:0000007	Autosomal recessive inheritance
2911	GRM1	HP:0001337	Tremor
2911	GRM1	HP:0000006	Autosomal dominant inheritance
2911	GRM1	HP:0001310	Dysmetria
2911	GRM1	HP:0008936	Axial hypotonia
2911	GRM1	HP:0002015	Dysphagia
2911	GRM1	HP:0002066	Gait ataxia
2911	GRM1	HP:0002075	Dysdiadochokinesis
2911	GRM1	HP:0002198	Dilated fourth ventricle
2911	GRM1	HP:0002167	Abnormality of speech or vocalization
2911	GRM1	HP:0003593	Infantile onset
2911	GRM1	HP:0007068	Inferior cerebellar vermis hypoplasia
2911	GRM1	HP:0003698	Difficulty standing
2911	GRM1	HP:0002359	Frequent falls
2911	GRM1	HP:0003677	Slowly progressive
2911	GRM1	HP:0000640	Gaze-evoked nystagmus
2911	GRM1	HP:0011347	Abnormality of ocular abduction
2911	GRM1	HP:0011344	Severe global developmental delay
2911	GRM1	HP:0004322	Short stature
2911	GRM1	HP:0004302	Functional motor deficit
2911	GRM1	HP:0006951	Retrocerebellar cyst
2911	GRM1	HP:0000750	Delayed speech and language development
2911	GRM1	HP:0012378	Fatigue
2911	GRM1	HP:0000360	Tinnitus
2911	GRM1	HP:0007979	Gaze-evoked horizontal nystagmus
2911	GRM1	HP:0000486	Strabismus
2911	GRM1	HP:0000508	Ptosis
2911	GRM1	HP:0000571	Hypometric saccades
2911	GRM1	HP:0000565	Esotropia
2916	GRM6	HP:0012047	Hemeralopia
2916	GRM6	HP:0000007	Autosomal recessive inheritance
2916	GRM6	HP:0007663	Reduced visual acuity
2916	GRM6	HP:0007642	Congenital stationary night blindness
2916	GRM6	HP:0000639	Nystagmus
2916	GRM6	HP:0030469	Abnormal dark-adapted electroretinogram
2916	GRM6	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
2916	GRM6	HP:0000662	Nyctalopia
2916	GRM6	HP:0000666	Horizontal nystagmus
2916	GRM6	HP:0030639	Congenital stationary night blindness with abnormal fundus
2916	GRM6	HP:0030638	Congenital stationary night blindness with normal fundus
2916	GRM6	HP:0011463	Childhood onset
2916	GRM6	HP:0007703	Abnormality of retinal pigmentation
2916	GRM6	HP:0007737	Bone spicule pigmentation of the retina
2916	GRM6	HP:0030329	Retinal thinning
2916	GRM6	HP:0007984	Electronegative electroretinogram
2916	GRM6	HP:0000486	Strabismus
2916	GRM6	HP:0031705	Compensatory head posture
2916	GRM6	HP:0000540	Hypermetropia
2916	GRM6	HP:0000551	Color vision defect
2916	GRM6	HP:0000545	Myopia
2917	GRM7	HP:0410170	Hippocampal atrophy
2917	GRM7	HP:0010851	EEG with burst suppression
2917	GRM7	HP:0010850	EEG with spike-wave complexes
2917	GRM7	HP:0002421	Poor head control
2917	GRM7	HP:0001272	Cerebellar atrophy
2917	GRM7	HP:0001250	Seizure
2917	GRM7	HP:0001249	Intellectual disability
2917	GRM7	HP:0001266	Choreoathetosis
2917	GRM7	HP:0001263	Global developmental delay
2917	GRM7	HP:0001257	Spasticity
2917	GRM7	HP:0007359	Focal-onset seizure
2917	GRM7	HP:0002521	Hypsarrhythmia
2917	GRM7	HP:0002509	Limb hypertonia
2917	GRM7	HP:0002506	Diffuse cerebral atrophy
2917	GRM7	HP:0000070	Ureterocele
2917	GRM7	HP:0000054	Micropenis
2917	GRM7	HP:0001347	Hyperreflexia
2917	GRM7	HP:0001332	Dystonia
2917	GRM7	HP:0000007	Autosomal recessive inheritance
2917	GRM7	HP:0001337	Tremor
2917	GRM7	HP:0001336	Myoclonus
2917	GRM7	HP:0001302	Pachygyria
2917	GRM7	HP:0002643	Neonatal respiratory distress
2917	GRM7	HP:0000175	Cleft palate
2917	GRM7	HP:0008947	Infantile muscular hypotonia
2917	GRM7	HP:0008936	Axial hypotonia
2917	GRM7	HP:0000110	Renal dysplasia
2917	GRM7	HP:0002719	Recurrent infections
2917	GRM7	HP:0002015	Dysphagia
2917	GRM7	HP:0002069	Bilateral tonic-clonic seizure
2917	GRM7	HP:0002079	Hypoplasia of the corpus callosum
2917	GRM7	HP:0100502	Vitamin B12 deficiency
2917	GRM7	HP:0002059	Cerebral atrophy
2917	GRM7	HP:0002121	Generalized non-motor (absence) seizure
2917	GRM7	HP:0002133	Status epilepticus
2917	GRM7	HP:0002131	Episodic ataxia
2917	GRM7	HP:0003429	CNS hypomyelination
2917	GRM7	HP:0100704	Cerebral visual impairment
2917	GRM7	HP:0100716	Self-injurious behavior
2917	GRM7	HP:0002360	Sleep disturbance
2917	GRM7	HP:0002376	Developmental regression
2917	GRM7	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
2917	GRM7	HP:0002353	EEG abnormality
2917	GRM7	HP:0007204	Diffuse white matter abnormalities
2917	GRM7	HP:0100660	Dyskinesia
2917	GRM7	HP:0010819	Atonic seizure
2917	GRM7	HP:0010818	Generalized tonic seizure
2917	GRM7	HP:0011344	Severe global developmental delay
2917	GRM7	HP:0004322	Short stature
2917	GRM7	HP:0000752	Hyperactivity
2917	GRM7	HP:0000742	Self-mutilation
2917	GRM7	HP:0012706	Elevated brain choline level by MRS
2917	GRM7	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
2917	GRM7	HP:0000729	Autistic behavior
2917	GRM7	HP:0010174	Broad phalanx of the toes
2917	GRM7	HP:0011470	Nasogastric tube feeding in infancy
2917	GRM7	HP:0009125	Lipodystrophy
2917	GRM7	HP:0000871	Panhypopituitarism
2917	GRM7	HP:0000826	Precocious puberty
2917	GRM7	HP:0000821	Hypothyroidism
2917	GRM7	HP:0000824	Decreased response to growth hormone stimulation test
2917	GRM7	HP:0009381	Short finger
2917	GRM7	HP:0000252	Microcephaly
2917	GRM7	HP:0001561	Polyhydramnios
2917	GRM7	HP:0001522	Death in infancy
2917	GRM7	HP:0001537	Umbilical hernia
2917	GRM7	HP:0001508	Failure to thrive
2917	GRM7	HP:0002835	Aspiration
2917	GRM7	HP:0001500	Broad finger
2917	GRM7	HP:0000365	Hearing impairment
2917	GRM7	HP:0000340	Sloping forehead
2917	GRM7	HP:0001629	Ventricular septal defect
2917	GRM7	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
2917	GRM7	HP:0011182	Interictal epileptiform activity
2917	GRM7	HP:0011169	Generalized clonic seizure
2917	GRM7	HP:0005280	Depressed nasal bridge
2917	GRM7	HP:0000486	Strabismus
2917	GRM7	HP:0012469	Infantile spasms
2917	GRM7	HP:0000463	Anteverted nares
2917	GRM7	HP:0012448	Delayed myelination
2917	GRM7	HP:0012554	Absent thumbnail
2934	GSN	HP:0002483	Bulbar signs
2934	GSN	HP:0001149	Lattice corneal dystrophy
2934	GSN	HP:0003774	Stage 5 chronic kidney disease
2934	GSN	HP:0002411	Myokymia
2934	GSN	HP:0001271	Polyneuropathy
2934	GSN	HP:0001283	Bulbar palsy
2934	GSN	HP:0001251	Ataxia
2934	GSN	HP:0001260	Dysarthria
2934	GSN	HP:0002549	Deficit in phonologic short-term memory
2934	GSN	HP:0000083	Renal insufficiency
2934	GSN	HP:0000093	Proteinuria
2934	GSN	HP:0007488	Diffuse skin atrophy
2934	GSN	HP:0000006	Autosomal dominant inheritance
2934	GSN	HP:0012185	Constrictive median neuropathy
2934	GSN	HP:0001488	Bilateral ptosis
2934	GSN	HP:0025408	Abnormal spleen morphology
2934	GSN	HP:0000100	Nephrotic syndrome
2934	GSN	HP:0001438	Abnormal abdomen morphology
2934	GSN	HP:0010535	Sleep apnea
2934	GSN	HP:0003581	Adult onset
2934	GSN	HP:0008404	Nail dystrophy
2934	GSN	HP:0010628	Facial palsy
2934	GSN	HP:0011947	Respiratory tract infection
2934	GSN	HP:0007067	Distal peripheral sensory neuropathy
2934	GSN	HP:0001005	Dermatological manifestations of systemic disorders
2934	GSN	HP:0001097	Keratoconjunctivitis sicca
2934	GSN	HP:0010749	Blepharochalasis
2934	GSN	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
2934	GSN	HP:0011356	Regional abnormality of skin
2934	GSN	HP:0000716	Depression
2934	GSN	HP:0000707	Abnormality of the nervous system
2934	GSN	HP:0012804	Corneal ulceration
2934	GSN	HP:0003216	Generalized amyloid deposition
2934	GSN	HP:0030843	Cardiac amyloidosis
2934	GSN	HP:0000978	Bruising susceptibility
2934	GSN	HP:0000973	Cutis laxa
2934	GSN	HP:0000989	Pruritus
2934	GSN	HP:0000958	Dry skin
2934	GSN	HP:0000969	Edema
2934	GSN	HP:0008070	Sparse hair
2934	GSN	HP:0011675	Arrhythmia
2934	GSN	HP:0000217	Xerostomia
2934	GSN	HP:0000365	Hearing impairment
2934	GSN	HP:0012332	Abnormal autonomic nervous system physiology
2934	GSN	HP:0001638	Cardiomyopathy
2934	GSN	HP:0012473	Tongue atrophy
2934	GSN	HP:0000478	Abnormality of the eye
2934	GSN	HP:0000518	Cataract
2934	GSN	HP:0000505	Visual impairment
2934	GSN	HP:0000501	Glaucoma
2936	GSR	HP:0000007	Autosomal recessive inheritance
2936	GSR	HP:0004814	Fava bean-induced hemolytic anemia
2936	GSR	HP:0002904	Hyperbilirubinemia
2936	GSR	HP:0000518	Cataract
2937	GSS	HP:0001285	Spastic tetraparesis
2937	GSS	HP:0001250	Seizure
2937	GSS	HP:0001251	Ataxia
2937	GSS	HP:0001249	Intellectual disability
2937	GSS	HP:0001260	Dysarthria
2937	GSS	HP:0001345	Psychotic mentation
2937	GSS	HP:0000007	Autosomal recessive inheritance
2937	GSS	HP:0410132	Increased level of L-pyroglutamic acid in urine
2937	GSS	HP:0003343	Reduced glutathione synthetase level
2937	GSS	HP:0002080	Intention tremor
2937	GSS	HP:0001942	Metabolic acidosis
2937	GSS	HP:0001996	Chronic metabolic acidosis
2937	GSS	HP:0003258	Glyoxalase deficiency
2937	GSS	HP:0000580	Pigmentary retinopathy
2937	GSS	HP:0001878	Hemolytic anemia
2937	GSS	HP:0001875	Neutropenia
2947	GSTM3	HP:0032261	Nontuberculous mycobacterial pulmonary infection
2947	GSTM3	HP:0002570	Steatorrhea
2947	GSTM3	HP:0032342	Reduced forced expiratory volume in one second
2947	GSTM3	HP:0001392	Abnormality of the liver
2947	GSTM3	HP:0001394	Cirrhosis
2947	GSTM3	HP:0002726	Recurrent Staphylococcus aureus infections
2947	GSTM3	HP:0002724	Recurrent Aspergillus infections
2947	GSTM3	HP:0002024	Malabsorption
2947	GSTM3	HP:0002020	Gastroesophageal reflux
2947	GSTM3	HP:0002035	Rectal prolapse
2947	GSTM3	HP:0002099	Asthma
2947	GSTM3	HP:0100582	Nasal polyposis
2947	GSTM3	HP:0002110	Bronchiectasis
2947	GSTM3	HP:0002107	Pneumothorax
2947	GSTM3	HP:0002105	Hemoptysis
2947	GSTM3	HP:0002205	Recurrent respiratory infections
2947	GSTM3	HP:0000739	Anxiety
2947	GSTM3	HP:0000716	Depression
2947	GSTM3	HP:0000787	Nephrolithiasis
2947	GSTM3	HP:0004401	Meconium ileus
2947	GSTM3	HP:0012873	Absent vas deferens
2947	GSTM3	HP:0045082	Decreased body mass index
2947	GSTM3	HP:0000939	Osteoporosis
2947	GSTM3	HP:0000938	Osteopenia
2947	GSTM3	HP:0012236	Elevated sweat chloride
2947	GSTM3	HP:0000246	Sinusitis
2947	GSTM3	HP:0001508	Failure to thrive
2947	GSTM3	HP:0002842	Recurrent Burkholderia cepacia infections
2947	GSTM3	HP:0006536	Airway obstruction
2947	GSTM3	HP:0002910	Elevated hepatic transaminase
2947	GSTM3	HP:0000365	Hearing impairment
2947	GSTM3	HP:0005376	Recurrent Haemophilus influenzae infections
2947	GSTM3	HP:0001738	Exocrine pancreatic insufficiency
2954	GSTZ1	HP:0000007	Autosomal recessive inheritance
2954	GSTZ1	HP:0001410	Decreased liver function
2956	MSH6	HP:0001123	Visual field defect
2956	MSH6	HP:0007256	Abnormal pyramidal sign
2956	MSH6	HP:0001276	Hypertonia
2956	MSH6	HP:0001288	Gait disturbance
2956	MSH6	HP:0100835	Benign neoplasm of the central nervous system
2956	MSH6	HP:0001250	Seizure
2956	MSH6	HP:0001252	Hypotonia
2956	MSH6	HP:0001260	Dysarthria
2956	MSH6	HP:0002516	Increased intracranial pressure
2956	MSH6	HP:0003829	Typified by incomplete penetrance
2956	MSH6	HP:0001371	Flexion contracture
2956	MSH6	HP:0007565	Multiple cafe-au-lait spots
2956	MSH6	HP:0002671	Basal cell carcinoma
2956	MSH6	HP:0000007	Autosomal recessive inheritance
2956	MSH6	HP:0002665	Lymphoma
2956	MSH6	HP:0000006	Autosomal dominant inheritance
2956	MSH6	HP:0012190	T-cell lymphoma
2956	MSH6	HP:0012174	Glioblastoma multiforme
2956	MSH6	HP:0012118	Laryngeal carcinoma
2956	MSH6	HP:0012114	Endometrial carcinoma
2956	MSH6	HP:0001428	Somatic mutation
2956	MSH6	HP:0001402	Hepatocellular carcinoma
2956	MSH6	HP:0002024	Malabsorption
2956	MSH6	HP:0002019	Constipation
2956	MSH6	HP:0002017	Nausea and vomiting
2956	MSH6	HP:0002027	Abdominal pain
2956	MSH6	HP:0002076	Migraine
2956	MSH6	HP:0100571	Cardiac diverticulum
2956	MSH6	HP:0100576	Amaurosis fugax
2956	MSH6	HP:0002167	Abnormality of speech or vocalization
2956	MSH6	HP:0010526	Dysgraphia
2956	MSH6	HP:0010524	Agnosia
2956	MSH6	HP:0003401	Paresthesia
2956	MSH6	HP:0009592	Astrocytoma
2956	MSH6	HP:0002239	Gastrointestinal hemorrhage
2956	MSH6	HP:0003581	Adult onset
2956	MSH6	HP:0009737	Lisch nodules
2956	MSH6	HP:0009720	Adenoma sebaceum
2956	MSH6	HP:0009726	Renal neoplasm
2956	MSH6	HP:0100743	Neoplasm of the rectum
2956	MSH6	HP:0007018	Attention deficit hyperactivity disorder
2956	MSH6	HP:0010622	Neoplasm of the skeletal system
2956	MSH6	HP:0002376	Developmental regression
2956	MSH6	HP:0002354	Memory impairment
2956	MSH6	HP:0100660	Dyskinesia
2956	MSH6	HP:0200008	Intestinal polyposis
2956	MSH6	HP:0100684	Salivary gland neoplasm
2956	MSH6	HP:0100615	Ovarian neoplasm
2956	MSH6	HP:0100613	Death in early adulthood
2956	MSH6	HP:0010786	Urinary tract neoplasm
2956	MSH6	HP:0003002	Breast carcinoma
2956	MSH6	HP:0003003	Colon cancer
2956	MSH6	HP:0004377	Hematological neoplasm
2956	MSH6	HP:0004374	Hemiplegia/hemiparesis
2956	MSH6	HP:0003006	Neuroblastoma
2956	MSH6	HP:0100031	Neoplasm of the thyroid gland
2956	MSH6	HP:0000738	Hallucinations
2956	MSH6	HP:0000737	Irritability
2956	MSH6	HP:0000739	Anxiety
2956	MSH6	HP:0000716	Depression
2956	MSH6	HP:0000708	Atypical behavior
2956	MSH6	HP:0000997	Axillary freckling
2956	MSH6	HP:0008069	Neoplasm of the skin
2956	MSH6	HP:0002896	Neoplasm of the liver
2956	MSH6	HP:0002894	Neoplasm of the pancreas
2956	MSH6	HP:0002893	Pituitary adenoma
2956	MSH6	HP:0001522	Death in infancy
2956	MSH6	HP:0012378	Fatigue
2956	MSH6	HP:0006753	Neoplasm of the stomach
2956	MSH6	HP:0006725	Pancreatic adenocarcinoma
2956	MSH6	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
2956	MSH6	HP:0006758	Malignant genitourinary tract tumor
2956	MSH6	HP:0001824	Weight loss
2956	MSH6	HP:0000505	Visual impairment
2961	GTF2E2	HP:0008619	Bilateral sensorineural hearing impairment
2961	GTF2E2	HP:0001197	Abnormality of prenatal development or birth
2961	GTF2E2	HP:0410219	Hypoplasia of mandible relative to maxilla
2961	GTF2E2	HP:0007266	Cerebral dysmyelination
2961	GTF2E2	HP:0007256	Abnormal pyramidal sign
2961	GTF2E2	HP:0002423	Long-tract signs
2961	GTF2E2	HP:0001290	Generalized hypotonia
2961	GTF2E2	HP:0001276	Hypertonia
2961	GTF2E2	HP:0001270	Motor delay
2961	GTF2E2	HP:0001265	Hyporeflexia
2961	GTF2E2	HP:0001260	Dysarthria
2961	GTF2E2	HP:0001263	Global developmental delay
2961	GTF2E2	HP:0001257	Spasticity
2961	GTF2E2	HP:0002562	Low-set nipples
2961	GTF2E2	HP:0007381	Congenital exfoliative erythroderma
2961	GTF2E2	HP:0001217	Clubbing
2961	GTF2E2	HP:0001373	Joint dislocation
2961	GTF2E2	HP:0001363	Craniosynostosis
2961	GTF2E2	HP:0000028	Cryptorchidism
2961	GTF2E2	HP:0008883	Mild intrauterine growth retardation
2961	GTF2E2	HP:0007495	Prematurely aged appearance
2961	GTF2E2	HP:0007485	Absence of subcutaneous fat
2961	GTF2E2	HP:0002673	Coxa valga
2961	GTF2E2	HP:0001338	Partial agenesis of the corpus callosum
2961	GTF2E2	HP:0000007	Autosomal recessive inheritance
2961	GTF2E2	HP:0025428	Bronchospasm
2961	GTF2E2	HP:0007633	Bilateral microphthalmos
2961	GTF2E2	HP:0002705	High, narrow palate
2961	GTF2E2	HP:0006297	Enamel hypoplasia
2961	GTF2E2	HP:0007587	Numerous pigmented freckles
2961	GTF2E2	HP:0000133	Gonadal dysgenesis
2961	GTF2E2	HP:0002750	Delayed skeletal maturation
2961	GTF2E2	HP:0002719	Recurrent infections
2961	GTF2E2	HP:0002080	Intention tremor
2961	GTF2E2	HP:0002066	Gait ataxia
2961	GTF2E2	HP:0002120	Cerebral cortical atrophy
2961	GTF2E2	HP:0002119	Ventriculomegaly
2961	GTF2E2	HP:0002136	Broad-based gait
2961	GTF2E2	HP:0002197	Generalized-onset seizure
2961	GTF2E2	HP:0010551	Paraplegia/paraparesis
2961	GTF2E2	HP:0002217	Slow-growing hair
2961	GTF2E2	HP:0002209	Sparse scalp hair
2961	GTF2E2	HP:0002299	Brittle hair
2961	GTF2E2	HP:0002293	Alopecia of scalp
2961	GTF2E2	HP:0007034	Generalized hyperreflexia
2961	GTF2E2	HP:0008391	Dystrophic fingernails
2961	GTF2E2	HP:0008386	Aplasia/Hypoplasia of the nails
2961	GTF2E2	HP:0002342	Intellectual disability, moderate
2961	GTF2E2	HP:0009830	Peripheral neuropathy
2961	GTF2E2	HP:0001097	Keratoconjunctivitis sicca
2961	GTF2E2	HP:0000639	Nystagmus
2961	GTF2E2	HP:0000613	Photophobia
2961	GTF2E2	HP:0000608	Macular degeneration
2961	GTF2E2	HP:0000601	Hypotelorism
2961	GTF2E2	HP:0001903	Anemia
2961	GTF2E2	HP:0000656	Ectropion
2961	GTF2E2	HP:0000670	Carious teeth
2961	GTF2E2	HP:0004322	Short stature
2961	GTF2E2	HP:0006970	Periventricular leukomalacia
2961	GTF2E2	HP:0003079	Defective DNA repair after ultraviolet radiation damage
2961	GTF2E2	HP:0012760	Reduced social reciprocity
2961	GTF2E2	HP:0004440	Coronal craniosynostosis
2961	GTF2E2	HP:0003139	Panhypogammaglobulinemia
2961	GTF2E2	HP:0045055	Tiger tail banding
2961	GTF2E2	HP:0100275	Diffuse cerebellar atrophy
2961	GTF2E2	HP:0000992	Cutaneous photosensitivity
2961	GTF2E2	HP:0000958	Dry skin
2961	GTF2E2	HP:0000964	Eczema
2961	GTF2E2	HP:0000938	Osteopenia
2961	GTF2E2	HP:0008064	Ichthyosis
2961	GTF2E2	HP:0000286	Epicanthus
2961	GTF2E2	HP:0000280	Coarse facial features
2961	GTF2E2	HP:0000278	Retrognathia
2961	GTF2E2	HP:0025548	Increased mean corpuscular hemoglobin concentration
2961	GTF2E2	HP:0001598	Concave nail
2961	GTF2E2	HP:0002828	Multiple joint contractures
2961	GTF2E2	HP:0000252	Microcephaly
2961	GTF2E2	HP:0002860	Squamous cell carcinoma
2961	GTF2E2	HP:0001537	Umbilical hernia
2961	GTF2E2	HP:0001518	Small for gestational age
2961	GTF2E2	HP:0001511	Intrauterine growth retardation
2961	GTF2E2	HP:0006538	Recurrent bronchopulmonary infections
2961	GTF2E2	HP:0001618	Dysphonia
2961	GTF2E2	HP:0002942	Thoracic kyphosis
2961	GTF2E2	HP:0011001	Increased bone mineral density
2961	GTF2E2	HP:0000320	Bird-like facies
2961	GTF2E2	HP:0000316	Hypertelorism
2961	GTF2E2	HP:0001629	Ventricular septal defect
2961	GTF2E2	HP:0001638	Cardiomyopathy
2961	GTF2E2	HP:0000483	Astigmatism
2961	GTF2E2	HP:0000486	Strabismus
2961	GTF2E2	HP:0000482	Microcornea
2961	GTF2E2	HP:0000411	Protruding ear
2961	GTF2E2	HP:0001761	Pes cavus
2961	GTF2E2	HP:0000518	Cataract
2961	GTF2E2	HP:0000519	Developmental cataract
2961	GTF2E2	HP:0000509	Conjunctivitis
2961	GTF2E2	HP:0001809	Split nail
2961	GTF2E2	HP:0001808	Fragile nails
2961	GTF2E2	HP:0001807	Ridged nail
2961	GTF2E2	HP:0000565	Esotropia
2961	GTF2E2	HP:0000546	Retinal degeneration
2961	GTF2E2	HP:0000545	Myopia
2961	GTF2E2	HP:0001875	Neutropenia
2969	GTF2I	HP:0001181	Adducted thumb
2969	GTF2I	HP:0001136	Retinal arteriolar tortuosity
2969	GTF2I	HP:0010880	Increased nuchal translucency
2969	GTF2I	HP:0001297	Stroke
2969	GTF2I	HP:0100817	Renovascular hypertension
2969	GTF2I	HP:0001288	Gait disturbance
2969	GTF2I	HP:0001252	Hypotonia
2969	GTF2I	HP:0001251	Ataxia
2969	GTF2I	HP:0001249	Intellectual disability
2969	GTF2I	HP:0001260	Dysarthria
2969	GTF2I	HP:0001257	Spasticity
2969	GTF2I	HP:0001231	Abnormal fingernail morphology
2969	GTF2I	HP:0002575	Tracheoesophageal fistula
2969	GTF2I	HP:0008736	Hypoplasia of penis
2969	GTF2I	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
2969	GTF2I	HP:0008661	Urethral stenosis
2969	GTF2I	HP:0000089	Renal hypoplasia
2969	GTF2I	HP:0000083	Renal insufficiency
2969	GTF2I	HP:0000093	Proteinuria
2969	GTF2I	HP:0000076	Vesicoureteral reflux
2969	GTF2I	HP:0000075	Renal duplication
2969	GTF2I	HP:0000044	Hypogonadotropic hypogonadism
2969	GTF2I	HP:0001388	Joint laxity
2969	GTF2I	HP:0001387	Joint stiffness
2969	GTF2I	HP:0000023	Inguinal hernia
2969	GTF2I	HP:0000015	Bladder diverticulum
2969	GTF2I	HP:0000014	Abnormality of the bladder
2969	GTF2I	HP:0001347	Hyperreflexia
2969	GTF2I	HP:0001361	Nystagmus-induced head nodding
2969	GTF2I	HP:0000025	Functional abnormality of male internal genitalia
2969	GTF2I	HP:0000028	Cryptorchidism
2969	GTF2I	HP:0007495	Prematurely aged appearance
2969	GTF2I	HP:0007477	Abnormal dermatoglyphics
2969	GTF2I	HP:0000010	Recurrent urinary tract infections
2969	GTF2I	HP:0001337	Tremor
2969	GTF2I	HP:0001310	Dysmetria
2969	GTF2I	HP:0002637	Cerebral ischemia
2969	GTF2I	HP:0002650	Scoliosis
2969	GTF2I	HP:0002644	Abnormal pelvic girdle bone morphology
2969	GTF2I	HP:0002623	Overriding aorta
2969	GTF2I	HP:0000179	Thick lower lip vermilion
2969	GTF2I	HP:0000158	Macroglossia
2969	GTF2I	HP:0000154	Wide mouth
2969	GTF2I	HP:0000147	Polycystic ovaries
2969	GTF2I	HP:0000121	Nephrocalcinosis
2969	GTF2I	HP:0000125	Pelvic kidney
2969	GTF2I	HP:0002750	Delayed skeletal maturation
2969	GTF2I	HP:0002024	Malabsorption
2969	GTF2I	HP:0002020	Gastroesophageal reflux
2969	GTF2I	HP:0002019	Constipation
2969	GTF2I	HP:0002017	Nausea and vomiting
2969	GTF2I	HP:0002035	Rectal prolapse
2969	GTF2I	HP:0002027	Abdominal pain
2969	GTF2I	HP:0003312	Abnormal form of the vertebral bodies
2969	GTF2I	HP:0003307	Hyperlordosis
2969	GTF2I	HP:0005978	Type II diabetes mellitus
2969	GTF2I	HP:0100539	Periorbital edema
2969	GTF2I	HP:0100545	Arterial stenosis
2969	GTF2I	HP:0002071	Abnormality of extrapyramidal motor function
2969	GTF2I	HP:0002141	Gait imbalance
2969	GTF2I	HP:0002150	Hypercalciuria
2969	GTF2I	HP:0002120	Cerebral cortical atrophy
2969	GTF2I	HP:0003422	Vertebral segmentation defect
2969	GTF2I	HP:0002183	Phonophobia
2969	GTF2I	HP:0002167	Abnormality of speech or vocalization
2969	GTF2I	HP:0010526	Dysgraphia
2969	GTF2I	HP:0002253	Colonic diverticula
2969	GTF2I	HP:0002205	Recurrent respiratory infections
2969	GTF2I	HP:0100785	Insomnia
2969	GTF2I	HP:0010662	Abnormality of the diencephalon
2969	GTF2I	HP:0010669	Hypoplasia of the zygomatic bone
2969	GTF2I	HP:0007018	Attention deficit hyperactivity disorder
2969	GTF2I	HP:0001052	Nevus flammeus
2969	GTF2I	HP:0002376	Developmental regression
2969	GTF2I	HP:0200021	Down-sloping shoulders
2969	GTF2I	HP:0100659	Abnormal cerebral vascular morphology
2969	GTF2I	HP:0010807	Open bite
2969	GTF2I	HP:0100613	Death in early adulthood
2969	GTF2I	HP:0001081	Cholelithiasis
2969	GTF2I	HP:0008499	High hypermetropia
2969	GTF2I	HP:0010780	Hyperacusis
2969	GTF2I	HP:0002308	Chiari malformation
2969	GTF2I	HP:0004969	Peripheral pulmonary artery stenosis
2969	GTF2I	HP:0004209	Clinodactyly of the 5th finger
2969	GTF2I	HP:0004295	Abnormal gastric mucosa morphology
2969	GTF2I	HP:0005562	Multiple renal cysts
2969	GTF2I	HP:0001969	Abnormal tubulointerstitial morphology
2969	GTF2I	HP:0000635	Blue irides
2969	GTF2I	HP:0000632	Lacrimation abnormality
2969	GTF2I	HP:0000627	Posterior embryotoxon
2969	GTF2I	HP:0000682	Abnormal dental enamel morphology
2969	GTF2I	HP:0000691	Microdontia
2969	GTF2I	HP:0000689	Dental malocclusion
2969	GTF2I	HP:0000670	Carious teeth
2969	GTF2I	HP:0012639	Abnormal nervous system morphology
2969	GTF2I	HP:0000668	Hypodontia
2969	GTF2I	HP:0004322	Short stature
2969	GTF2I	HP:0004306	Abnormal endocardium morphology
2969	GTF2I	HP:0004305	Involuntary movements
2969	GTF2I	HP:0003072	Hypercalcemia
2969	GTF2I	HP:0004381	Supravalvular aortic stenosis
2969	GTF2I	HP:0004398	Peptic ulcer
2969	GTF2I	HP:0005692	Joint hyperflexibility
2969	GTF2I	HP:0003028	Abnormality of the ankle
2969	GTF2I	HP:0100025	Overfriendliness
2969	GTF2I	HP:0000767	Pectus excavatum
2969	GTF2I	HP:0000739	Anxiety
2969	GTF2I	HP:0000716	Depression
2969	GTF2I	HP:0000717	Autism
2969	GTF2I	HP:0000722	Compulsive behaviors
2969	GTF2I	HP:0000787	Nephrolithiasis
2969	GTF2I	HP:0003119	Abnormal circulating lipid concentration
2969	GTF2I	HP:0004428	Elfin facies
2969	GTF2I	HP:0003198	Myopathy
2969	GTF2I	HP:0003196	Short nose
2969	GTF2I	HP:0000826	Precocious puberty
2969	GTF2I	HP:0000822	Hypertension
2969	GTF2I	HP:0000821	Hypothyroidism
2969	GTF2I	HP:0003236	Elevated circulating creatine kinase concentration
2969	GTF2I	HP:0003298	Spina bifida occulta
2969	GTF2I	HP:0000960	Sacral dimple
2969	GTF2I	HP:0000939	Osteoporosis
2969	GTF2I	HP:0000938	Osteopenia
2969	GTF2I	HP:0100240	Synostosis of joints
2969	GTF2I	HP:0008053	Aplasia/Hypoplasia of the iris
2969	GTF2I	HP:0007720	Flat cornea
2969	GTF2I	HP:0000286	Epicanthus
2969	GTF2I	HP:0000280	Coarse facial features
2969	GTF2I	HP:0000275	Narrow face
2969	GTF2I	HP:0005113	Aortic arch aneurysm
2969	GTF2I	HP:0002829	Arthralgia
2969	GTF2I	HP:0002808	Kyphosis
2969	GTF2I	HP:0000252	Microcephaly
2969	GTF2I	HP:0001582	Redundant skin
2969	GTF2I	HP:0000212	Gingival overgrowth
2969	GTF2I	HP:0000232	Everted lower lip vermilion
2969	GTF2I	HP:0001531	Failure to thrive in infancy
2969	GTF2I	HP:0002857	Genu valgum
2969	GTF2I	HP:0001537	Umbilical hernia
2969	GTF2I	HP:0001513	Obesity
2969	GTF2I	HP:0000389	Chronic otitis media
2969	GTF2I	HP:0001609	Hoarse voice
2969	GTF2I	HP:0001608	Abnormality of the voice
2969	GTF2I	HP:0001618	Dysphonia
2969	GTF2I	HP:0006482	Abnormality of dental morphology
2969	GTF2I	HP:0000368	Low-set, posteriorly rotated ears
2969	GTF2I	HP:0001671	Abnormal cardiac septum morphology
2969	GTF2I	HP:0000343	Long philtrum
2969	GTF2I	HP:0011001	Increased bone mineral density
2969	GTF2I	HP:0000337	Broad forehead
2969	GTF2I	HP:0002999	Patellar dislocation
2969	GTF2I	HP:0000348	High forehead
2969	GTF2I	HP:0000347	Micrognathia
2969	GTF2I	HP:0001647	Bicuspid aortic valve
2969	GTF2I	HP:0001643	Patent ductus arteriosus
2969	GTF2I	HP:0001642	Pulmonic stenosis
2969	GTF2I	HP:0001645	Sudden cardiac death
2969	GTF2I	HP:0002974	Radioulnar synostosis
2969	GTF2I	HP:0001658	Myocardial infarction
2969	GTF2I	HP:0001653	Mitral regurgitation
2969	GTF2I	HP:0001629	Ventricular septal defect
2969	GTF2I	HP:0001626	Abnormality of the cardiovascular system
2969	GTF2I	HP:0001640	Cardiomegaly
2969	GTF2I	HP:0001639	Hypertrophic cardiomyopathy
2969	GTF2I	HP:0001636	Tetralogy of Fallot
2969	GTF2I	HP:0001635	Congestive heart failure
2969	GTF2I	HP:0000307	Pointed chin
2969	GTF2I	HP:0001631	Atrial septal defect
2969	GTF2I	HP:0001634	Mitral valve prolapse
2969	GTF2I	HP:0007957	Corneal opacity
2969	GTF2I	HP:0005344	Abnormal carotid artery morphology
2969	GTF2I	HP:0000407	Sensorineural hearing impairment
2969	GTF2I	HP:0000400	Macrotia
2969	GTF2I	HP:0000486	Strabismus
2969	GTF2I	HP:0000485	Megalocornea
2969	GTF2I	HP:0000464	Abnormality of the neck
2969	GTF2I	HP:0012433	Abnormal social behavior
2969	GTF2I	HP:0001763	Pes planus
2969	GTF2I	HP:0000411	Protruding ear
2969	GTF2I	HP:0000431	Wide nasal bridge
2969	GTF2I	HP:0000518	Cataract
2969	GTF2I	HP:0001822	Hallux valgus
2969	GTF2I	HP:0000505	Visual impairment
2969	GTF2I	HP:0000501	Glaucoma
2969	GTF2I	HP:0001800	Hypoplastic toenails
2969	GTF2I	HP:0000581	Blepharophimosis
2969	GTF2I	HP:0000545	Myopia
2972	BRF1	HP:0001182	Tapered finger
2972	BRF1	HP:0002465	Poor speech
2972	BRF1	HP:0010864	Intellectual disability, severe
2972	BRF1	HP:0002418	Abnormal midbrain morphology
2972	BRF1	HP:0001256	Intellectual disability, mild
2972	BRF1	HP:0001249	Intellectual disability
2972	BRF1	HP:0001263	Global developmental delay
2972	BRF1	HP:0006118	Shortening of all distal phalanges of the fingers
2972	BRF1	HP:0002509	Limb hypertonia
2972	BRF1	HP:0000074	Ureteropelvic junction obstruction
2972	BRF1	HP:0000023	Inguinal hernia
2972	BRF1	HP:0000028	Cryptorchidism
2972	BRF1	HP:0033725	Thin corpus callosum
2972	BRF1	HP:0000007	Autosomal recessive inheritance
2972	BRF1	HP:0002650	Scoliosis
2972	BRF1	HP:0001321	Cerebellar hypoplasia
2972	BRF1	HP:0012110	Hypoplasia of the pons
2972	BRF1	HP:0000126	Hydronephrosis
2972	BRF1	HP:0002750	Delayed skeletal maturation
2972	BRF1	HP:0011800	Midface retrusion
2972	BRF1	HP:0002079	Hypoplasia of the corpus callosum
2972	BRF1	HP:0002119	Ventriculomegaly
2972	BRF1	HP:0003593	Infantile onset
2972	BRF1	HP:0003577	Congenital onset
2972	BRF1	HP:0002213	Fine hair
2972	BRF1	HP:0002280	Enlarged cisterna magna
2972	BRF1	HP:0008366	Foot joint contracture
2972	BRF1	HP:0003510	Severe short stature
2972	BRF1	HP:0007068	Inferior cerebellar vermis hypoplasia
2972	BRF1	HP:0002365	Hypoplasia of the brainstem
2972	BRF1	HP:0004970	Ascending tubular aorta aneurysm
2972	BRF1	HP:0004209	Clinodactyly of the 5th finger
2972	BRF1	HP:0009085	Alveolar ridge overgrowth
2972	BRF1	HP:0000679	Taurodontia
2972	BRF1	HP:0000675	Macrodontia of permanent maxillary central incisor
2972	BRF1	HP:0000689	Dental malocclusion
2972	BRF1	HP:0001999	Abnormal facial shape
2972	BRF1	HP:0004322	Short stature
2972	BRF1	HP:0006970	Periventricular leukomalacia
2972	BRF1	HP:0011406	Infancy onset short-trunk short stature
2972	BRF1	HP:0000750	Delayed speech and language development
2972	BRF1	HP:0000718	Aggressive behavior
2972	BRF1	HP:0003100	Slender long bone
2972	BRF1	HP:0034259	Hypoplasia of the midbrain
2972	BRF1	HP:0045075	Sparse eyebrow
2972	BRF1	HP:0000954	Single transverse palmar crease
2972	BRF1	HP:0008070	Sparse hair
2972	BRF1	HP:0005135	Abnormal T-wave
2972	BRF1	HP:0006461	Proximal femoral epiphysiolysis
2972	BRF1	HP:0000252	Microcephaly
2972	BRF1	HP:0002857	Genu valgum
2972	BRF1	HP:0001508	Failure to thrive
2972	BRF1	HP:0007835	S-shaped palpebral fissures
2972	BRF1	HP:0006511	Laryngeal stridor
2972	BRF1	HP:0000384	Preauricular skin tag
2972	BRF1	HP:0001601	Laryngomalacia
2972	BRF1	HP:0000369	Low-set ears
2972	BRF1	HP:0000343	Long philtrum
2972	BRF1	HP:0000347	Micrognathia
2972	BRF1	HP:0001629	Ventricular septal defect
2972	BRF1	HP:0001634	Mitral valve prolapse
2972	BRF1	HP:0000486	Strabismus
2972	BRF1	HP:0000463	Anteverted nares
2972	BRF1	HP:0000470	Short neck
2972	BRF1	HP:0001763	Pes planus
2972	BRF1	HP:0000431	Wide nasal bridge
2972	BRF1	HP:0000518	Cataract
2978	GUCA1A	HP:0007401	Macular atrophy
2978	GUCA1A	HP:0031152	Full-thickness macular hole
2978	GUCA1A	HP:0000006	Autosomal dominant inheritance
2978	GUCA1A	HP:0007663	Reduced visual acuity
2978	GUCA1A	HP:0007641	Dyschromatopsia
2978	GUCA1A	HP:0000613	Photophobia
2978	GUCA1A	HP:0030491	Choriocapillaris atrophy
2978	GUCA1A	HP:0000662	Nyctalopia
2978	GUCA1A	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT
2978	GUCA1A	HP:0030629	Perifoveal ring of hyperautofluorescence
2978	GUCA1A	HP:0030631	Hyperautofluorescent macular lesion
2978	GUCA1A	HP:0011510	Drusen
2978	GUCA1A	HP:0007703	Abnormality of retinal pigmentation
2978	GUCA1A	HP:0007814	Retinal pigment epithelial mottling
2978	GUCA1A	HP:0007894	Hypopigmentation of the fundus
2978	GUCA1A	HP:0007924	Slow decrease in visual acuity
2978	GUCA1A	HP:0007980	Absent retinal pigment epithelium
2978	GUCA1A	HP:0000512	Abnormal electroretinogram
2978	GUCA1A	HP:0000529	Progressive visual loss
2978	GUCA1A	HP:0000505	Visual impairment
2978	GUCA1A	HP:0000572	Visual loss
2978	GUCA1A	HP:0000533	Chorioretinal atrophy
2978	GUCA1A	HP:0000551	Color vision defect
2978	GUCA1A	HP:0000548	Cone/cone-rod dystrophy
2979	GUCA1B	HP:0001249	Intellectual disability
2979	GUCA1B	HP:0008736	Hypoplasia of penis
2979	GUCA1B	HP:0001347	Hyperreflexia
2979	GUCA1B	HP:0000035	Abnormal testis morphology
2979	GUCA1B	HP:0000006	Autosomal dominant inheritance
2979	GUCA1B	HP:0000135	Hypogonadism
2979	GUCA1B	HP:0007675	Progressive night blindness
2979	GUCA1B	HP:0005978	Type II diabetes mellitus
2979	GUCA1B	HP:0000639	Nystagmus
2979	GUCA1B	HP:0000648	Optic atrophy
2979	GUCA1B	HP:0000618	Blindness
2979	GUCA1B	HP:0000613	Photophobia
2979	GUCA1B	HP:0000608	Macular degeneration
2979	GUCA1B	HP:0000602	Ophthalmoplegia
2979	GUCA1B	HP:0000842	Hyperinsulinemia
2979	GUCA1B	HP:0000987	Atypical scarring of skin
2979	GUCA1B	HP:0008046	Abnormal retinal vascular morphology
2979	GUCA1B	HP:0007703	Abnormality of retinal pigmentation
2979	GUCA1B	HP:0001513	Obesity
2979	GUCA1B	HP:0000407	Sensorineural hearing impairment
2979	GUCA1B	HP:0000405	Conductive hearing impairment
2979	GUCA1B	HP:0000463	Anteverted nares
2979	GUCA1B	HP:0000431	Wide nasal bridge
2979	GUCA1B	HP:0000518	Cataract
2979	GUCA1B	HP:0000510	Rod-cone dystrophy
2979	GUCA1B	HP:0000512	Abnormal electroretinogram
2979	GUCA1B	HP:0000505	Visual impairment
2979	GUCA1B	HP:0000501	Glaucoma
2979	GUCA1B	HP:0000563	Keratoconus
2982	GUCY1A1	HP:0033505	Livedo reticularis
2982	GUCY1A1	HP:0001297	Stroke
2982	GUCY1A1	HP:0001269	Hemiparesis
2982	GUCY1A1	HP:0002571	Achalasia
2982	GUCY1A1	HP:0000007	Autosomal recessive inheritance
2982	GUCY1A1	HP:0002015	Dysphagia
2982	GUCY1A1	HP:0002140	Ischemic stroke
2982	GUCY1A1	HP:0002197	Generalized-onset seizure
2982	GUCY1A1	HP:0011834	Moyamoya phenomenon
2982	GUCY1A1	HP:0003593	Infantile onset
2982	GUCY1A1	HP:0100659	Abnormal cerebral vascular morphology
2982	GUCY1A1	HP:0003623	Neonatal onset
2982	GUCY1A1	HP:0000802	Impotence
2982	GUCY1A1	HP:0011463	Childhood onset
2982	GUCY1A1	HP:0000822	Hypertension
2982	GUCY1A1	HP:0030880	Raynaud phenomenon
2982	GUCY1A1	HP:0000965	Cutis marmorata
2982	GUCY1A1	HP:0030402	Abnormal platelet aggregation
2982	GUCY1A1	HP:0001873	Thrombocytopenia
2984	GUCY2C	HP:0000007	Autosomal recessive inheritance
2984	GUCY2C	HP:0000006	Autosomal dominant inheritance
2984	GUCY2C	HP:0002027	Abdominal pain
2984	GUCY2C	HP:0002028	Chronic diarrhea
2984	GUCY2C	HP:0100502	Vitamin B12 deficiency
2984	GUCY2C	HP:0003593	Infantile onset
2984	GUCY2C	HP:0004388	Microcolon
2984	GUCY2C	HP:0004401	Meconium ileus
2984	GUCY2C	HP:0040128	Abnormal sweat electrolytes
2984	GUCY2C	HP:0100280	Crohn's disease
2990	GUSB	HP:0002465	Poor speech
2990	GUSB	HP:0001252	Hypotonia
2990	GUSB	HP:0001249	Intellectual disability
2990	GUSB	HP:0008807	Acetabular dysplasia
2990	GUSB	HP:0025372	Loud snoring
2990	GUSB	HP:0001376	Limitation of joint mobility
2990	GUSB	HP:0001371	Flexion contracture
2990	GUSB	HP:0001387	Joint stiffness
2990	GUSB	HP:0000023	Inguinal hernia
2990	GUSB	HP:0002680	J-shaped sella turcica
2990	GUSB	HP:0008897	Postnatal growth retardation
2990	GUSB	HP:0006119	Proximal tapering of metacarpals
2990	GUSB	HP:0000007	Autosomal recessive inheritance
2990	GUSB	HP:0002650	Scoliosis
2990	GUSB	HP:0000158	Macroglossia
2990	GUSB	HP:0012115	Hepatitis
2990	GUSB	HP:0005019	Diaphyseal thickening
2990	GUSB	HP:0002788	Recurrent upper respiratory tract infections
2990	GUSB	HP:0003311	Hypoplasia of the odontoid process
2990	GUSB	HP:0003375	Narrow greater sciatic notch
2990	GUSB	HP:0004607	Anterior beaking of lower thoracic vertebrae
2990	GUSB	HP:0008155	Mucopolysacchariduria
2990	GUSB	HP:0002103	Abnormal pleura morphology
2990	GUSB	HP:0002180	Neurodegeneration
2990	GUSB	HP:0002159	Heparan sulfate excretion in urine
2990	GUSB	HP:0003593	Infantile onset
2990	GUSB	HP:0002240	Hepatomegaly
2990	GUSB	HP:0003541	Urinary glycosaminoglycan excretion
2990	GUSB	HP:0002208	Coarse hair
2990	GUSB	HP:0002205	Recurrent respiratory infections
2990	GUSB	HP:0010655	Epiphyseal stippling
2990	GUSB	HP:0008301	Dermatan sulfate excretion in urine
2990	GUSB	HP:0001004	Lymphedema
2990	GUSB	HP:0001007	Hirsutism
2990	GUSB	HP:0100625	Enlarged thorax
2990	GUSB	HP:0008430	Anterior beaking of lumbar vertebrae
2990	GUSB	HP:0000613	Photophobia
2990	GUSB	HP:0000687	Widely spaced teeth
2990	GUSB	HP:0004322	Short stature
2990	GUSB	HP:0005619	Thoracolumbar kyphosis
2990	GUSB	HP:0000768	Pectus carinatum
2990	GUSB	HP:0100026	Arteriovenous malformation
2990	GUSB	HP:0011461	Fetal onset
2990	GUSB	HP:0000926	Platyspondyly
2990	GUSB	HP:0004469	Chronic bronchitis
2990	GUSB	HP:0003272	Abnormal hip bone morphology
2990	GUSB	HP:0000943	Dysostosis multiplex
2990	GUSB	HP:0000280	Coarse facial features
2990	GUSB	HP:0000256	Macrocephaly
2990	GUSB	HP:0002808	Kyphosis
2990	GUSB	HP:0000238	Hydrocephalus
2990	GUSB	HP:0000212	Gingival overgrowth
2990	GUSB	HP:0002857	Genu valgum
2990	GUSB	HP:0002870	Obstructive sleep apnea
2990	GUSB	HP:0001541	Ascites
2990	GUSB	HP:0001537	Umbilical hernia
2990	GUSB	HP:0012368	Flat face
2990	GUSB	HP:0006536	Airway obstruction
2990	GUSB	HP:0000365	Hearing impairment
2990	GUSB	HP:0001654	Abnormal heart valve morphology
2990	GUSB	HP:0001638	Cardiomyopathy
2990	GUSB	HP:0007957	Corneal opacity
2990	GUSB	HP:0000407	Sensorineural hearing impairment
2990	GUSB	HP:0000403	Recurrent otitis media
2990	GUSB	HP:0001789	Hydrops fetalis
2990	GUSB	HP:0000470	Short neck
2990	GUSB	HP:0001744	Splenomegaly
2990	GUSB	HP:0001762	Talipes equinovarus
2990	GUSB	HP:0001840	Metatarsus adductus
2990	GUSB	HP:0000505	Visual impairment
2990	GUSB	HP:0000574	Thick eyebrow
2992	GYG1	HP:0002460	Distal muscle weakness
2992	GYG1	HP:0010872	T-wave inversion
2992	GYG1	HP:0003749	Pelvic girdle muscle weakness
2992	GYG1	HP:0003722	Neck flexor weakness
2992	GYG1	HP:0003803	Type 1 muscle fiber predominance
2992	GYG1	HP:0001324	Muscle weakness
2992	GYG1	HP:0000007	Autosomal recessive inheritance
2992	GYG1	HP:0008946	Pelvic girdle amyotrophy
2992	GYG1	HP:0003325	Limb-girdle muscle weakness
2992	GYG1	HP:0011727	Peroneal muscle weakness
2992	GYG1	HP:0011712	Right bundle branch block
2992	GYG1	HP:0003484	Upper limb muscle weakness
2992	GYG1	HP:0003458	EMG: myopathic abnormalities
2992	GYG1	HP:0004756	Ventricular tachycardia
2992	GYG1	HP:0004751	Paroxysmal ventricular tachycardia
2992	GYG1	HP:0010546	Muscle fibrillation
2992	GYG1	HP:0003596	Middle age onset
2992	GYG1	HP:0003584	Late onset
2992	GYG1	HP:0003547	Shoulder girdle muscle weakness
2992	GYG1	HP:0003691	Scapular winging
2992	GYG1	HP:0002355	Difficulty walking
2992	GYG1	HP:0003677	Slowly progressive
2992	GYG1	HP:0002321	Vertigo
2992	GYG1	HP:0001962	Palpitations
2992	GYG1	HP:0009023	Abdominal wall muscle weakness
2992	GYG1	HP:0009027	Foot dorsiflexor weakness
2992	GYG1	HP:0011463	Childhood onset
2992	GYG1	HP:0011462	Young adult onset
2992	GYG1	HP:0003199	Decreased muscle mass
2992	GYG1	HP:0000819	Diabetes mellitus
2992	GYG1	HP:0000821	Hypothyroidism
2992	GYG1	HP:0040014	Increased mitochondrial number
2992	GYG1	HP:0040081	Abnormal circulating creatine kinase concentration
2992	GYG1	HP:0003236	Elevated circulating creatine kinase concentration
2992	GYG1	HP:0100299	Muscle fiber inclusion bodies
2992	GYG1	HP:0011675	Arrhythmia
2992	GYG1	HP:0012270	Decreased muscle glycogen content
2992	GYG1	HP:0012251	ST segment elevation
2992	GYG1	HP:0005144	Ventricular septal hypertrophy
2992	GYG1	HP:0031319	Cardiomyocyte hypertrophy
2992	GYG1	HP:0002875	Exertional dyspnea
2992	GYG1	HP:0001663	Ventricular fibrillation
2992	GYG1	HP:0001638	Cardiomyopathy
2992	GYG1	HP:0001714	Ventricular hypertrophy
2992	GYG1	HP:0030237	Hand muscle weakness
2992	GYG1	HP:0025708	Early young adult onset
2995	GYPC	HP:0025143	Chills
2995	GYPC	HP:0008897	Postnatal growth retardation
2995	GYPC	HP:0002027	Abdominal pain
2995	GYPC	HP:0002007	Frontal bossing
2995	GYPC	HP:0004804	Congenital hemolytic anemia
2995	GYPC	HP:0001081	Cholelithiasis
2995	GYPC	HP:0005502	Increased red cell osmotic fragility
2995	GYPC	HP:0001945	Fever
2995	GYPC	HP:0001923	Reticulocytosis
2995	GYPC	HP:0004446	Stomatocytosis
2995	GYPC	HP:0004445	Elliptocytosis
2995	GYPC	HP:0004447	Poikilocytosis
2995	GYPC	HP:0003265	Neonatal hyperbilirubinemia
2995	GYPC	HP:0000952	Jaundice
2995	GYPC	HP:0006579	Prolonged neonatal jaundice
2995	GYPC	HP:0002904	Hyperbilirubinemia
2995	GYPC	HP:0001789	Hydrops fetalis
2995	GYPC	HP:0001744	Splenomegaly
2995	GYPC	HP:0001878	Hemolytic anemia
2995	GYPC	HP:0001877	Abnormal erythrocyte morphology
2997	GYS1	HP:0001297	Stroke
2997	GYS1	HP:0000007	Autosomal recessive inheritance
2997	GYS1	HP:0031295	Left atrial enlargement
2997	GYS1	HP:0002069	Bilateral tonic-clonic seizure
2997	GYS1	HP:0003546	Exercise intolerance
2997	GYS1	HP:0012270	Decreased muscle glycogen content
2997	GYS1	HP:0001638	Cardiomyopathy
2997	GYS1	HP:0001712	Left ventricular hypertrophy
2998	GYS2	HP:0001254	Lethargy
2998	GYS2	HP:0001250	Seizure
2998	GYS2	HP:0001263	Global developmental delay
2998	GYS2	HP:0000007	Autosomal recessive inheritance
2998	GYS2	HP:0002151	Increased serum lactate
2998	GYS2	HP:0011998	Postprandial hyperglycemia
2998	GYS2	HP:0001946	Ketosis
2998	GYS2	HP:0001998	Neonatal hypoglycemia
2998	GYS2	HP:0004322	Short stature
2998	GYS2	HP:0003077	Hyperlipidemia
2998	GYS2	HP:0003076	Glycosuria
2998	GYS2	HP:0012734	Ketotic hypoglycemia
2998	GYS2	HP:0000737	Irritability
2998	GYS2	HP:0003162	Fasting hypoglycemia
2998	GYS2	HP:0001508	Failure to thrive
2998	GYS2	HP:0002919	Ketonuria
2998	GYS2	HP:0002910	Elevated hepatic transaminase
2998	GYS2	HP:0011024	Abnormality of the gastrointestinal tract
3000	GUCY2D	HP:0001141	Severely reduced visual acuity
3000	GUCY2D	HP:0001250	Seizure
3000	GUCY2D	HP:0001252	Hypotonia
3000	GUCY2D	HP:0001249	Intellectual disability
3000	GUCY2D	HP:0001263	Global developmental delay
3000	GUCY2D	HP:0007401	Macular atrophy
3000	GUCY2D	HP:0003831	Typified by age-related disease onset
3000	GUCY2D	HP:0012047	Hemeralopia
3000	GUCY2D	HP:0031152	Full-thickness macular hole
3000	GUCY2D	HP:0000007	Autosomal recessive inheritance
3000	GUCY2D	HP:0000006	Autosomal dominant inheritance
3000	GUCY2D	HP:0001483	Eye poking
3000	GUCY2D	HP:0007675	Progressive night blindness
3000	GUCY2D	HP:0007663	Reduced visual acuity
3000	GUCY2D	HP:0007641	Dyschromatopsia
3000	GUCY2D	HP:0003354	Hyperthreoninemia
3000	GUCY2D	HP:0002084	Encephalocele
3000	GUCY2D	HP:0003593	Infantile onset
3000	GUCY2D	HP:0002269	Abnormality of neuronal migration
3000	GUCY2D	HP:0002240	Hepatomegaly
3000	GUCY2D	HP:0001099	Fundus atrophy
3000	GUCY2D	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
3000	GUCY2D	HP:0000639	Nystagmus
3000	GUCY2D	HP:0000618	Blindness
3000	GUCY2D	HP:0000613	Photophobia
3000	GUCY2D	HP:0030491	Choriocapillaris atrophy
3000	GUCY2D	HP:0000662	Nyctalopia
3000	GUCY2D	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
3000	GUCY2D	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT
3000	GUCY2D	HP:0030629	Perifoveal ring of hyperautofluorescence
3000	GUCY2D	HP:0030631	Hyperautofluorescent macular lesion
3000	GUCY2D	HP:0004374	Hemiplegia/hemiparesis
3000	GUCY2D	HP:0012795	Abnormal optic disc morphology
3000	GUCY2D	HP:0011463	Childhood onset
3000	GUCY2D	HP:0011510	Drusen
3000	GUCY2D	HP:0003296	Hyperthreoninuria
3000	GUCY2D	HP:0007703	Abnormality of retinal pigmentation
3000	GUCY2D	HP:0007737	Bone spicule pigmentation of the retina
3000	GUCY2D	HP:0001510	Growth delay
3000	GUCY2D	HP:0007843	Attenuation of retinal blood vessels
3000	GUCY2D	HP:0007814	Retinal pigment epithelial mottling
3000	GUCY2D	HP:0007894	Hypopigmentation of the fundus
3000	GUCY2D	HP:0000365	Hearing impairment
3000	GUCY2D	HP:0007924	Slow decrease in visual acuity
3000	GUCY2D	HP:0007994	Peripheral visual field loss
3000	GUCY2D	HP:0007980	Absent retinal pigment epithelium
3000	GUCY2D	HP:0000407	Sensorineural hearing impairment
3000	GUCY2D	HP:0012426	Optic disc drusen
3000	GUCY2D	HP:0000518	Cataract
3000	GUCY2D	HP:0000512	Abnormal electroretinogram
3000	GUCY2D	HP:0000505	Visual impairment
3000	GUCY2D	HP:0000580	Pigmentary retinopathy
3000	GUCY2D	HP:0000563	Keratoconus
3000	GUCY2D	HP:0000572	Visual loss
3000	GUCY2D	HP:0000533	Chorioretinal atrophy
3000	GUCY2D	HP:0000552	Tritanomaly
3000	GUCY2D	HP:0000551	Color vision defect
3000	GUCY2D	HP:0000548	Cone/cone-rod dystrophy
3008	H1-4	HP:0009890	High anterior hairline
3008	H1-4	HP:0003764	Nevus
3008	H1-4	HP:0001276	Hypertonia
3008	H1-4	HP:0001249	Intellectual disability
3008	H1-4	HP:0001263	Global developmental delay
3008	H1-4	HP:0000028	Cryptorchidism
3008	H1-4	HP:0033725	Thin corpus callosum
3008	H1-4	HP:0000006	Autosomal dominant inheritance
3008	H1-4	HP:0001319	Neonatal hypotonia
3008	H1-4	HP:0002751	Kyphoscoliosis
3008	H1-4	HP:0002119	Ventriculomegaly
3008	H1-4	HP:0003577	Congenital onset
3008	H1-4	HP:0011968	Feeding difficulties
3008	H1-4	HP:0003623	Neonatal onset
3008	H1-4	HP:0000646	Amblyopia
3008	H1-4	HP:0005616	Accelerated skeletal maturation
3008	H1-4	HP:0000739	Anxiety
3008	H1-4	HP:0000293	Full cheeks
3008	H1-4	HP:0000256	Macrocephaly
3008	H1-4	HP:0001582	Redundant skin
3008	H1-4	HP:0012385	Camptodactyly
3008	H1-4	HP:0000483	Astigmatism
3008	H1-4	HP:0000486	Strabismus
3008	H1-4	HP:0012450	Chronic constipation
3008	H1-4	HP:0001762	Talipes equinovarus
3008	H1-4	HP:0000506	Telecanthus
3020	H3-3A	HP:0001182	Tapered finger
3020	H3-3A	HP:0001274	Agenesis of corpus callosum
3020	H3-3A	HP:0001250	Seizure
3020	H3-3A	HP:0001252	Hypotonia
3020	H3-3A	HP:0001263	Global developmental delay
3020	H3-3A	HP:0001257	Spasticity
3020	H3-3A	HP:0002562	Low-set nipples
3020	H3-3A	HP:0001371	Flexion contracture
3020	H3-3A	HP:0025336	Delayed ability to sit
3020	H3-3A	HP:0001388	Joint laxity
3020	H3-3A	HP:0001357	Plagiocephaly
3020	H3-3A	HP:0033725	Thin corpus callosum
3020	H3-3A	HP:0000006	Autosomal dominant inheritance
3020	H3-3A	HP:0001320	Cerebellar vermis hypoplasia
3020	H3-3A	HP:0000194	Open mouth
3020	H3-3A	HP:0000160	Narrow mouth
3020	H3-3A	HP:0000154	Wide mouth
3020	H3-3A	HP:0002714	Downturned corners of mouth
3020	H3-3A	HP:0002020	Gastroesophageal reflux
3020	H3-3A	HP:0002002	Deep philtrum
3020	H3-3A	HP:0002007	Frontal bossing
3020	H3-3A	HP:0011800	Midface retrusion
3020	H3-3A	HP:0002120	Cerebral cortical atrophy
3020	H3-3A	HP:0002119	Ventriculomegaly
3020	H3-3A	HP:0002162	Low posterior hairline
3020	H3-3A	HP:0002263	Exaggerated cupid's bow
3020	H3-3A	HP:0100704	Cerebral visual impairment
3020	H3-3A	HP:0007099	Chiari type I malformation
3020	H3-3A	HP:0002376	Developmental regression
3020	H3-3A	HP:0010804	Tented upper lip vermilion
3020	H3-3A	HP:0000639	Nystagmus
3020	H3-3A	HP:0011304	Broad thumb
3020	H3-3A	HP:0031936	Delayed ability to walk
3020	H3-3A	HP:0000752	Hyperactivity
3020	H3-3A	HP:0000750	Delayed speech and language development
3020	H3-3A	HP:0000729	Autistic behavior
3020	H3-3A	HP:0045075	Sparse eyebrow
3020	H3-3A	HP:0000954	Single transverse palmar crease
3020	H3-3A	HP:0000286	Epicanthus
3020	H3-3A	HP:0000294	Low anterior hairline
3020	H3-3A	HP:0000289	Broad philtrum
3020	H3-3A	HP:0000256	Macrocephaly
3020	H3-3A	HP:0000252	Microcephaly
3020	H3-3A	HP:0000232	Everted lower lip vermilion
3020	H3-3A	HP:0001601	Laryngomalacia
3020	H3-3A	HP:0000358	Posteriorly rotated ears
3020	H3-3A	HP:0000369	Low-set ears
3020	H3-3A	HP:0000341	Narrow forehead
3020	H3-3A	HP:0000343	Long philtrum
3020	H3-3A	HP:0000348	High forehead
3020	H3-3A	HP:0000347	Micrognathia
3020	H3-3A	HP:0000319	Smooth philtrum
3020	H3-3A	HP:0001647	Bicuspid aortic valve
3020	H3-3A	HP:0000316	Hypertelorism
3020	H3-3A	HP:0001631	Atrial septal defect
3020	H3-3A	HP:0000303	Mandibular prognathia
3020	H3-3A	HP:0005280	Depressed nasal bridge
3020	H3-3A	HP:0000486	Strabismus
3020	H3-3A	HP:0000494	Downslanted palpebral fissures
3020	H3-3A	HP:0000490	Deeply set eye
3020	H3-3A	HP:0000463	Anteverted nares
3020	H3-3A	HP:0012450	Chronic constipation
3020	H3-3A	HP:0001770	Toe syndactyly
3020	H3-3A	HP:0000430	Underdeveloped nasal alae
3020	H3-3A	HP:0000582	Upslanted palpebral fissure
3020	H3-3A	HP:0011220	Prominent forehead
3020	H3-3A	HP:0012520	Dilation of Virchow-Robin spaces
3021	H3-3B	HP:0001182	Tapered finger
3021	H3-3B	HP:0001166	Arachnodactyly
3021	H3-3B	HP:0001263	Global developmental delay
3021	H3-3B	HP:0001212	Prominent fingertip pads
3021	H3-3B	HP:0001388	Joint laxity
3021	H3-3B	HP:0001357	Plagiocephaly
3021	H3-3B	HP:0000006	Autosomal dominant inheritance
3021	H3-3B	HP:0002650	Scoliosis
3021	H3-3B	HP:0002020	Gastroesophageal reflux
3021	H3-3B	HP:0002007	Frontal bossing
3021	H3-3B	HP:0011800	Midface retrusion
3021	H3-3B	HP:0003593	Infantile onset
3021	H3-3B	HP:0008467	Thoracic hemivertebrae
3021	H3-3B	HP:0009765	Low hanging columella
3021	H3-3B	HP:0004209	Clinodactyly of the 5th finger
3021	H3-3B	HP:0011304	Broad thumb
3021	H3-3B	HP:0004322	Short stature
3021	H3-3B	HP:0004383	Hypoplastic left heart
3021	H3-3B	HP:0100259	Postaxial polydactyly
3021	H3-3B	HP:0000964	Eczema
3021	H3-3B	HP:0008070	Sparse hair
3021	H3-3B	HP:0000256	Macrocephaly
3021	H3-3B	HP:0000268	Dolichocephaly
3021	H3-3B	HP:0000252	Microcephaly
3021	H3-3B	HP:0000248	Brachycephaly
3021	H3-3B	HP:0001548	Overgrowth
3021	H3-3B	HP:0002857	Genu valgum
3021	H3-3B	HP:0001508	Failure to thrive
3021	H3-3B	HP:0001601	Laryngomalacia
3021	H3-3B	HP:0000365	Hearing impairment
3021	H3-3B	HP:0000343	Long philtrum
3021	H3-3B	HP:0000348	High forehead
3021	H3-3B	HP:0001647	Bicuspid aortic valve
3021	H3-3B	HP:0001631	Atrial septal defect
3021	H3-3B	HP:0000303	Mandibular prognathia
3021	H3-3B	HP:0001795	Hyperconvex nail
3021	H3-3B	HP:0012450	Chronic constipation
3021	H3-3B	HP:0001763	Pes planus
3021	H3-3B	HP:0001761	Pes cavus
3021	H3-3B	HP:0005487	Prominent metopic ridge
3021	H3-3B	HP:0011220	Prominent forehead
3026	HABP2	HP:0000006	Autosomal dominant inheritance
3026	HABP2	HP:0002653	Bone pain
3026	HABP2	HP:0002625	Deep venous thrombosis
3026	HABP2	HP:0002757	Recurrent fractures
3026	HABP2	HP:0002733	Abnormal lymph node morphology
3026	HABP2	HP:0002730	Chronic noninfectious lymphadenopathy
3026	HABP2	HP:0005994	Nodular goiter
3026	HABP2	HP:0002176	Spinal cord compression
3026	HABP2	HP:0002204	Pulmonary embolism
3026	HABP2	HP:0001907	Thromboembolism
3026	HABP2	HP:0003003	Colon cancer
3026	HABP2	HP:0011463	Childhood onset
3026	HABP2	HP:0004419	Recurrent thrombophlebitis
3026	HABP2	HP:0000853	Goiter
3026	HABP2	HP:0040198	Non-medullary thyroid carcinoma
3026	HABP2	HP:0012288	Neoplasm of head and neck
3026	HABP2	HP:0002895	Papillary thyroid carcinoma
3026	HABP2	HP:0006528	Chronic lung disease
3026	HABP2	HP:0005305	Cerebral venous thrombosis
3026	HABP2	HP:0006731	Follicular thyroid carcinoma
3026	HABP2	HP:3000037	Abnormal neck blood vessel morphology
3026	HABP2	HP:0006766	Papillary renal cell carcinoma
3026	HABP2	HP:0012531	Pain
3028	HSD17B10	HP:0002487	Hyperkinetic movements
3028	HSD17B10	HP:0002490	Increased CSF lactate
3028	HSD17B10	HP:0010936	Abnormality of the lower urinary tract
3028	HSD17B10	HP:0010864	Intellectual disability, severe
3028	HSD17B10	HP:0500170	Abnormal concentration of acylcarnitine in the urine
3028	HSD17B10	HP:0002421	Poor head control
3028	HSD17B10	HP:0001290	Generalized hypotonia
3028	HSD17B10	HP:0001285	Spastic tetraparesis
3028	HSD17B10	HP:0001250	Seizure
3028	HSD17B10	HP:0001252	Hypotonia
3028	HSD17B10	HP:0002579	Gastrointestinal dysmotility
3028	HSD17B10	HP:0001249	Intellectual disability
3028	HSD17B10	HP:0001264	Spastic diplegia
3028	HSD17B10	HP:0001266	Choreoathetosis
3028	HSD17B10	HP:0001260	Dysarthria
3028	HSD17B10	HP:0001263	Global developmental delay
3028	HSD17B10	HP:0001257	Spasticity
3028	HSD17B10	HP:0002510	Spastic tetraplegia
3028	HSD17B10	HP:0002506	Diffuse cerebral atrophy
3028	HSD17B10	HP:0002505	Loss of ambulation
3028	HSD17B10	HP:0001392	Abnormality of the liver
3028	HSD17B10	HP:0001332	Dystonia
3028	HSD17B10	HP:0001344	Absent speech
3028	HSD17B10	HP:0001423	X-linked dominant inheritance
3028	HSD17B10	HP:0002015	Dysphagia
3028	HSD17B10	HP:0002059	Cerebral atrophy
3028	HSD17B10	HP:0002151	Increased serum lactate
3028	HSD17B10	HP:0002120	Cerebral cortical atrophy
3028	HSD17B10	HP:0002134	Abnormal basal ganglia morphology
3028	HSD17B10	HP:0002180	Neurodegeneration
3028	HSD17B10	HP:0003593	Infantile onset
3028	HSD17B10	HP:0007030	Nonprogressive encephalopathy
3028	HSD17B10	HP:0008322	Abnormal mitochondrial morphology
3028	HSD17B10	HP:0002376	Developmental regression
3028	HSD17B10	HP:0002370	Poor coordination
3028	HSD17B10	HP:0002344	Progressive neurologic deterioration
3028	HSD17B10	HP:0006892	Frontotemporal cerebral atrophy
3028	HSD17B10	HP:0000639	Nystagmus
3028	HSD17B10	HP:0000648	Optic atrophy
3028	HSD17B10	HP:0000618	Blindness
3028	HSD17B10	HP:0001943	Hypoglycemia
3028	HSD17B10	HP:0001942	Metabolic acidosis
3028	HSD17B10	HP:0011343	Moderate global developmental delay
3028	HSD17B10	HP:0001987	Hyperammonemia
3028	HSD17B10	HP:0001999	Abnormal facial shape
3028	HSD17B10	HP:0100022	Abnormality of movement
3028	HSD17B10	HP:0000750	Delayed speech and language development
3028	HSD17B10	HP:0000749	Paroxysmal bursts of laughter
3028	HSD17B10	HP:0012707	Elevated brain lactate level by MRS
3028	HSD17B10	HP:0000718	Aggressive behavior
3028	HSD17B10	HP:0000711	Restlessness
3028	HSD17B10	HP:0000713	Agitation
3028	HSD17B10	HP:0000708	Atypical behavior
3028	HSD17B10	HP:0034290	Elevated circulating tiglylglycine concentration
3028	HSD17B10	HP:0003128	Lactic acidosis
3028	HSD17B10	HP:0003287	Abnormality of mitochondrial metabolism
3028	HSD17B10	HP:0003256	Abnormality of the coagulation cascade
3028	HSD17B10	HP:0000961	Cyanosis
3028	HSD17B10	HP:0000252	Microcephaly
3028	HSD17B10	HP:0012379	Abnormal circulating enzyme concentration or activity
3028	HSD17B10	HP:0000365	Hearing impairment
3028	HSD17B10	HP:0001640	Cardiomegaly
3028	HSD17B10	HP:0001639	Hypertrophic cardiomyopathy
3028	HSD17B10	HP:0000407	Sensorineural hearing impairment
3028	HSD17B10	HP:0000510	Rod-cone dystrophy
3028	HSD17B10	HP:0000572	Visual loss
3028	HSD17B10	HP:0030391	Spoken word recognition deficit
3028	HSD17B10	HP:0000546	Retinal degeneration
3029	HAGH	HP:0000006	Autosomal dominant inheritance
3029	HAGH	HP:0003258	Glyoxalase deficiency
3030	HADHA	HP:0025145	Rigors
3030	HADHA	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level
3030	HADHA	HP:0002476	Primitive reflex
3030	HADHA	HP:0003756	Skeletal myopathy
3030	HADHA	HP:0001290	Generalized hypotonia
3030	HADHA	HP:0001270	Motor delay
3030	HADHA	HP:0001284	Areflexia
3030	HADHA	HP:0001254	Lethargy
3030	HADHA	HP:0001250	Seizure
3030	HADHA	HP:0001252	Hypotonia
3030	HADHA	HP:0001249	Intellectual disability
3030	HADHA	HP:0001263	Global developmental delay
3030	HADHA	HP:0001259	Coma
3030	HADHA	HP:0007340	Lower limb muscle weakness
3030	HADHA	HP:0001396	Cholestasis
3030	HADHA	HP:0002686	Prenatal maternal abnormality
3030	HADHA	HP:0008872	Feeding difficulties in infancy
3030	HADHA	HP:0001324	Muscle weakness
3030	HADHA	HP:0000007	Autosomal recessive inheritance
3030	HADHA	HP:0002611	Cholestatic liver disease
3030	HADHA	HP:0002033	Poor suck
3030	HADHA	HP:0003326	Myalgia
3030	HADHA	HP:0003324	Generalized muscle weakness
3030	HADHA	HP:0011808	Decreased patellar reflex
3030	HADHA	HP:0002093	Respiratory insufficiency
3030	HADHA	HP:0003394	Muscle spasm
3030	HADHA	HP:0008138	Equinus calcaneus
3030	HADHA	HP:0008110	Equinovarus deformity
3030	HADHA	HP:0003487	Babinski sign
3030	HADHA	HP:0003593	Infantile onset
3030	HADHA	HP:0002240	Hepatomegaly
3030	HADHA	HP:0003551	Difficulty climbing stairs
3030	HADHA	HP:0003546	Exercise intolerance
3030	HADHA	HP:0011968	Feeding difficulties
3030	HADHA	HP:0007067	Distal peripheral sensory neuropathy
3030	HADHA	HP:0002359	Frequent falls
3030	HADHA	HP:0009830	Peripheral neuropathy
3030	HADHA	HP:0100626	Chronic hepatic failure
3030	HADHA	HP:0007141	Sensorimotor neuropathy
3030	HADHA	HP:0003623	Neonatal onset
3030	HADHA	HP:0000613	Photophobia
3030	HADHA	HP:0001943	Hypoglycemia
3030	HADHA	HP:0001939	Abnormality of metabolism/homeostasis
3030	HADHA	HP:0009063	Progressive distal muscle weakness
3030	HADHA	HP:0000662	Nyctalopia
3030	HADHA	HP:0001987	Hyperammonemia
3030	HADHA	HP:0001985	Hypoketotic hypoglycemia
3030	HADHA	HP:0031956	Elevated circulating aspartate aminotransferase concentration
3030	HADHA	HP:0003198	Myopathy
3030	HADHA	HP:0003128	Lactic acidosis
3030	HADHA	HP:0000829	Hypoparathyroidism
3030	HADHA	HP:0003236	Elevated circulating creatine kinase concentration
3030	HADHA	HP:0030856	Posterior staphyloma
3030	HADHA	HP:0003201	Rhabdomyolysis
3030	HADHA	HP:0045045	Elevated circulating acylcarnitine concentration
3030	HADHA	HP:0011675	Arrhythmia
3030	HADHA	HP:0007703	Abnormality of retinal pigmentation
3030	HADHA	HP:0002878	Respiratory failure
3030	HADHA	HP:0001560	Abnormality of the amniotic fluid
3030	HADHA	HP:0001531	Failure to thrive in infancy
3030	HADHA	HP:0001508	Failure to thrive
3030	HADHA	HP:0001518	Small for gestational age
3030	HADHA	HP:0030051	Tip-toe gait
3030	HADHA	HP:0006555	Diffuse hepatic steatosis
3030	HADHA	HP:0002913	Myoglobinuria
3030	HADHA	HP:0002910	Elevated hepatic transaminase
3030	HADHA	HP:0005180	Tricuspid regurgitation
3030	HADHA	HP:0002901	Hypocalcemia
3030	HADHA	HP:0001699	Sudden death
3030	HADHA	HP:0001644	Dilated cardiomyopathy
3030	HADHA	HP:0001653	Mitral regurgitation
3030	HADHA	HP:0001639	Hypertrophic cardiomyopathy
3030	HADHA	HP:0001635	Congestive heart failure
3030	HADHA	HP:0001638	Cardiomyopathy
3030	HADHA	HP:0001712	Left ventricular hypertrophy
3030	HADHA	HP:0000488	Retinopathy
3030	HADHA	HP:0001789	Hydrops fetalis
3030	HADHA	HP:0001761	Pes cavus
3030	HADHA	HP:0000512	Abnormal electroretinogram
3030	HADHA	HP:0000580	Pigmentary retinopathy
3030	HADHA	HP:0000577	Exotropia
3030	HADHA	HP:0000572	Visual loss
3030	HADHA	HP:0000532	Abnormal chorioretinal morphology
3030	HADHA	HP:0000533	Chorioretinal atrophy
3030	HADHA	HP:0000545	Myopia
3032	HADHB	HP:0025145	Rigors
3032	HADHB	HP:0002476	Primitive reflex
3032	HADHB	HP:0003756	Skeletal myopathy
3032	HADHB	HP:0001270	Motor delay
3032	HADHB	HP:0001284	Areflexia
3032	HADHB	HP:0001254	Lethargy
3032	HADHB	HP:0001250	Seizure
3032	HADHB	HP:0001252	Hypotonia
3032	HADHB	HP:0001259	Coma
3032	HADHB	HP:0007340	Lower limb muscle weakness
3032	HADHB	HP:0001396	Cholestasis
3032	HADHB	HP:0008872	Feeding difficulties in infancy
3032	HADHB	HP:0001324	Muscle weakness
3032	HADHB	HP:0002033	Poor suck
3032	HADHB	HP:0003326	Myalgia
3032	HADHB	HP:0003324	Generalized muscle weakness
3032	HADHB	HP:0011808	Decreased patellar reflex
3032	HADHB	HP:0002093	Respiratory insufficiency
3032	HADHB	HP:0003394	Muscle spasm
3032	HADHB	HP:0008138	Equinus calcaneus
3032	HADHB	HP:0008110	Equinovarus deformity
3032	HADHB	HP:0003487	Babinski sign
3032	HADHB	HP:0003551	Difficulty climbing stairs
3032	HADHB	HP:0003546	Exercise intolerance
3032	HADHB	HP:0007067	Distal peripheral sensory neuropathy
3032	HADHB	HP:0002359	Frequent falls
3032	HADHB	HP:0009830	Peripheral neuropathy
3032	HADHB	HP:0100626	Chronic hepatic failure
3032	HADHB	HP:0007141	Sensorimotor neuropathy
3032	HADHB	HP:0009063	Progressive distal muscle weakness
3032	HADHB	HP:0001985	Hypoketotic hypoglycemia
3032	HADHB	HP:0000829	Hypoparathyroidism
3032	HADHB	HP:0003201	Rhabdomyolysis
3032	HADHB	HP:0011675	Arrhythmia
3032	HADHB	HP:0002878	Respiratory failure
3032	HADHB	HP:0001531	Failure to thrive in infancy
3032	HADHB	HP:0030051	Tip-toe gait
3032	HADHB	HP:0006555	Diffuse hepatic steatosis
3032	HADHB	HP:0005180	Tricuspid regurgitation
3032	HADHB	HP:0002901	Hypocalcemia
3032	HADHB	HP:0001653	Mitral regurgitation
3032	HADHB	HP:0001635	Congestive heart failure
3032	HADHB	HP:0001638	Cardiomyopathy
3032	HADHB	HP:0001712	Left ventricular hypertrophy
3032	HADHB	HP:0001761	Pes cavus
3032	HADHB	HP:0000580	Pigmentary retinopathy
3033	HADH	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level
3033	HADH	HP:0001290	Generalized hypotonia
3033	HADH	HP:0001270	Motor delay
3033	HADH	HP:0001289	Confusion
3033	HADH	HP:0001254	Lethargy
3033	HADH	HP:0001252	Hypotonia
3033	HADH	HP:0001249	Intellectual disability
3033	HADH	HP:0012071	Abnormal circulating acetylcarnitine concentration
3033	HADH	HP:0001397	Hepatic steatosis
3033	HADH	HP:0008872	Feeding difficulties in infancy
3033	HADH	HP:0001325	Hypoglycemic coma
3033	HADH	HP:0000007	Autosomal recessive inheritance
3033	HADH	HP:0001319	Neonatal hypotonia
3033	HADH	HP:0002605	Hepatic necrosis
3033	HADH	HP:0002014	Diarrhea
3033	HADH	HP:0002013	Vomiting
3033	HADH	HP:0008180	Mildly elevated creatine kinase
3033	HADH	HP:0008151	Prolonged prothrombin time
3033	HADH	HP:0002173	Hypoglycemic seizures
3033	HADH	HP:0008283	Fasting hyperinsulinemia
3033	HADH	HP:0011968	Feeding difficulties
3033	HADH	HP:0003508	Proportionate short stature
3033	HADH	HP:0009830	Peripheral neuropathy
3033	HADH	HP:0003623	Neonatal onset
3033	HADH	HP:0001987	Hyperammonemia
3033	HADH	HP:0001985	Hypoketotic hypoglycemia
3033	HADH	HP:0001998	Neonatal hypoglycemia
3033	HADH	HP:0006929	Hypoglycemic encephalopathy
3033	HADH	HP:0004448	Fulminant hepatic failure
3033	HADH	HP:0030781	Increased circulating free fatty acid level
3033	HADH	HP:0030796	Increased C-peptide level
3033	HADH	HP:0003128	Lactic acidosis
3033	HADH	HP:0000825	Hyperinsulinemic hypoglycemia
3033	HADH	HP:0003234	Decreased plasma carnitine
3033	HADH	HP:0003215	Dicarboxylic aciduria
3033	HADH	HP:0001508	Failure to thrive
3033	HADH	HP:0001511	Intrauterine growth retardation
3033	HADH	HP:0001510	Growth delay
3033	HADH	HP:0006554	Acute hepatic failure
3033	HADH	HP:0002913	Myoglobinuria
3033	HADH	HP:0002910	Elevated hepatic transaminase
3033	HADH	HP:0001644	Dilated cardiomyopathy
3033	HADH	HP:0001657	Prolonged QT interval
3033	HADH	HP:0001639	Hypertrophic cardiomyopathy
3033	HADH	HP:0000580	Pigmentary retinopathy
3034	HAL	HP:0010906	Hyperhistidinemia
3034	HAL	HP:0001249	Intellectual disability
3034	HAL	HP:0001328	Specific learning disability
3034	HAL	HP:0000007	Autosomal recessive inheritance
3034	HAL	HP:0000006	Autosomal dominant inheritance
3034	HAL	HP:0002167	Abnormality of speech or vocalization
3034	HAL	HP:0011343	Moderate global developmental delay
3034	HAL	HP:0000752	Hyperactivity
3034	HAL	HP:0000708	Atypical behavior
3034	HAL	HP:0002927	Histidinuria
3035	HARS1	HP:0002460	Distal muscle weakness
3035	HARS1	HP:0007328	Impaired pain sensation
3035	HARS1	HP:0001288	Gait disturbance
3035	HARS1	HP:0001251	Ataxia
3035	HARS1	HP:0003828	Variable expressivity
3035	HARS1	HP:0001348	Brisk reflexes
3035	HARS1	HP:0000007	Autosomal recessive inheritance
3035	HARS1	HP:0000006	Autosomal dominant inheritance
3035	HARS1	HP:0008959	Distal upper limb muscle weakness
3035	HARS1	HP:0008954	Intrinsic hand muscle atrophy
3035	HARS1	HP:0002078	Truncal ataxia
3035	HARS1	HP:0003376	Steppage gait
3035	HARS1	HP:0003474	Somatic sensory dysfunction
3035	HARS1	HP:0003438	Absent Achilles reflex
3035	HARS1	HP:0002194	Delayed gross motor development
3035	HARS1	HP:0002166	Impaired vibration sensation in the lower limbs
3035	HARS1	HP:0100753	Schizophrenia
3035	HARS1	HP:0007002	Motor axonal neuropathy
3035	HARS1	HP:0007083	Hyperactive patellar reflex
3035	HARS1	HP:0003693	Distal amyotrophy
3035	HARS1	HP:0009830	Peripheral neuropathy
3035	HARS1	HP:0008499	High hypermetropia
3035	HARS1	HP:0007108	Demyelinating peripheral neuropathy
3035	HARS1	HP:0000613	Photophobia
3035	HARS1	HP:0009053	Distal lower limb muscle weakness
3035	HARS1	HP:0000662	Nyctalopia
3035	HARS1	HP:0000666	Horizontal nystagmus
3035	HARS1	HP:0006937	Impaired distal tactile sensation
3035	HARS1	HP:0000738	Hallucinations
3035	HARS1	HP:0000739	Anxiety
3035	HARS1	HP:0000716	Depression
3035	HARS1	HP:0003100	Slender long bone
3035	HARS1	HP:0007730	Iris hypopigmentation
3035	HARS1	HP:0030051	Tip-toe gait
3035	HARS1	HP:0012377	Hemianopia
3035	HARS1	HP:0002936	Distal sensory impairment
3035	HARS1	HP:0000365	Hearing impairment
3035	HARS1	HP:0000375	Abnormal cochlea morphology
3035	HARS1	HP:0000407	Sensorineural hearing impairment
3035	HARS1	HP:0000483	Astigmatism
3035	HARS1	HP:0030237	Hand muscle weakness
3035	HARS1	HP:0001765	Hammertoe
3035	HARS1	HP:0001760	Abnormal foot morphology
3035	HARS1	HP:0001761	Pes cavus
3035	HARS1	HP:0001756	Vestibular hypofunction
3035	HARS1	HP:0000518	Cataract
3035	HARS1	HP:0000512	Abnormal electroretinogram
3035	HARS1	HP:0000505	Visual impairment
3035	HARS1	HP:0000575	Scotoma
3035	HARS1	HP:0000572	Visual loss
3035	HARS1	HP:0012531	Pain
3035	HARS1	HP:0000543	Optic disc pallor
3039	HBA1	HP:0009906	Aplasia/Hypoplasia of the earlobes
3039	HBA1	HP:0009891	Underdeveloped supraorbital ridges
3039	HBA1	HP:0001252	Hypotonia
3039	HBA1	HP:0001249	Intellectual disability
3039	HBA1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
3039	HBA1	HP:0001371	Flexion contracture
3039	HBA1	HP:0000047	Hypospadias
3039	HBA1	HP:0000028	Cryptorchidism
3039	HBA1	HP:0000006	Autosomal dominant inheritance
3039	HBA1	HP:0012119	Methemoglobinemia
3039	HBA1	HP:0002007	Frontal bossing
3039	HBA1	HP:0011907	Reduced alpha/beta synthesis ratio
3039	HBA1	HP:0011902	Abnormal hemoglobin
3039	HBA1	HP:0011903	HbH hemoglobin
3039	HBA1	HP:0002167	Abnormality of speech or vocalization
3039	HBA1	HP:0003577	Congenital onset
3039	HBA1	HP:0002240	Hepatomegaly
3039	HBA1	HP:0004840	Hypochromic microcytic anemia
3039	HBA1	HP:0020082	Heinz bodies
3039	HBA1	HP:0100602	Preeclampsia
3039	HBA1	HP:0005511	Heinz body anemia
3039	HBA1	HP:0001935	Microcytic anemia
3039	HBA1	HP:0001930	Nonspherocytic hemolytic anemia
3039	HBA1	HP:0001903	Anemia
3039	HBA1	HP:0001900	Increased hemoglobin
3039	HBA1	HP:0001901	Polycythemia
3039	HBA1	HP:0004322	Short stature
3039	HBA1	HP:0000768	Pectus carinatum
3039	HBA1	HP:0000980	Pallor
3039	HBA1	HP:0000978	Bruising susceptibility
3039	HBA1	HP:0000961	Cyanosis
3039	HBA1	HP:0000286	Epicanthus
3039	HBA1	HP:0000278	Retrognathia
3039	HBA1	HP:0000272	Malar flattening
3039	HBA1	HP:0000238	Hydrocephalus
3039	HBA1	HP:0000252	Microcephaly
3039	HBA1	HP:0000218	High palate
3039	HBA1	HP:0001562	Oligohydramnios
3039	HBA1	HP:0001561	Polyhydramnios
3039	HBA1	HP:0001508	Failure to thrive
3039	HBA1	HP:0012378	Fatigue
3039	HBA1	HP:0000368	Low-set, posteriorly rotated ears
3039	HBA1	HP:0000337	Broad forehead
3039	HBA1	HP:0000348	High forehead
3039	HBA1	HP:0000347	Micrognathia
3039	HBA1	HP:0000316	Hypertelorism
3039	HBA1	HP:0001635	Congestive heart failure
3039	HBA1	HP:0001701	Pericarditis
3039	HBA1	HP:0000494	Downslanted palpebral fissures
3039	HBA1	HP:0001789	Hydrops fetalis
3039	HBA1	HP:0000470	Short neck
3039	HBA1	HP:0001744	Splenomegaly
3039	HBA1	HP:0001762	Talipes equinovarus
3039	HBA1	HP:0000431	Wide nasal bridge
3039	HBA1	HP:0001831	Short toe
3039	HBA1	HP:0001899	Increased hematocrit
3039	HBA1	HP:0001878	Hemolytic anemia
3040	HBA2	HP:0009906	Aplasia/Hypoplasia of the earlobes
3040	HBA2	HP:0009891	Underdeveloped supraorbital ridges
3040	HBA2	HP:0001252	Hypotonia
3040	HBA2	HP:0001249	Intellectual disability
3040	HBA2	HP:0100840	Aplasia/Hypoplasia of the eyebrow
3040	HBA2	HP:0001371	Flexion contracture
3040	HBA2	HP:0000047	Hypospadias
3040	HBA2	HP:0000028	Cryptorchidism
3040	HBA2	HP:0000006	Autosomal dominant inheritance
3040	HBA2	HP:0002007	Frontal bossing
3040	HBA2	HP:0011907	Reduced alpha/beta synthesis ratio
3040	HBA2	HP:0011902	Abnormal hemoglobin
3040	HBA2	HP:0011903	HbH hemoglobin
3040	HBA2	HP:0002167	Abnormality of speech or vocalization
3040	HBA2	HP:0002240	Hepatomegaly
3040	HBA2	HP:0004840	Hypochromic microcytic anemia
3040	HBA2	HP:0020082	Heinz bodies
3040	HBA2	HP:0100602	Preeclampsia
3040	HBA2	HP:0005511	Heinz body anemia
3040	HBA2	HP:0001935	Microcytic anemia
3040	HBA2	HP:0001930	Nonspherocytic hemolytic anemia
3040	HBA2	HP:0001903	Anemia
3040	HBA2	HP:0001900	Increased hemoglobin
3040	HBA2	HP:0001901	Polycythemia
3040	HBA2	HP:0004322	Short stature
3040	HBA2	HP:0000768	Pectus carinatum
3040	HBA2	HP:0000980	Pallor
3040	HBA2	HP:0000978	Bruising susceptibility
3040	HBA2	HP:0000286	Epicanthus
3040	HBA2	HP:0000278	Retrognathia
3040	HBA2	HP:0000272	Malar flattening
3040	HBA2	HP:0000238	Hydrocephalus
3040	HBA2	HP:0000252	Microcephaly
3040	HBA2	HP:0000218	High palate
3040	HBA2	HP:0001562	Oligohydramnios
3040	HBA2	HP:0001561	Polyhydramnios
3040	HBA2	HP:0001508	Failure to thrive
3040	HBA2	HP:0012378	Fatigue
3040	HBA2	HP:0000368	Low-set, posteriorly rotated ears
3040	HBA2	HP:0000337	Broad forehead
3040	HBA2	HP:0000348	High forehead
3040	HBA2	HP:0000347	Micrognathia
3040	HBA2	HP:0000316	Hypertelorism
3040	HBA2	HP:0001635	Congestive heart failure
3040	HBA2	HP:0001701	Pericarditis
3040	HBA2	HP:0000494	Downslanted palpebral fissures
3040	HBA2	HP:0001789	Hydrops fetalis
3040	HBA2	HP:0000470	Short neck
3040	HBA2	HP:0001744	Splenomegaly
3040	HBA2	HP:0001762	Talipes equinovarus
3040	HBA2	HP:0000431	Wide nasal bridge
3040	HBA2	HP:0001831	Short toe
3040	HBA2	HP:0001899	Increased hematocrit
3040	HBA2	HP:0001878	Hemolytic anemia
3043	HBB	HP:0010885	Avascular necrosis
3043	HBB	HP:0032231	Hypochromia
3043	HBB	HP:0001297	Stroke
3043	HBB	HP:0002597	Abnormality of the vasculature
3043	HBB	HP:0031035	Chronic infection
3043	HBB	HP:0010972	Anemia of inadequate production
3043	HBB	HP:0000083	Renal insufficiency
3043	HBB	HP:0001396	Cholestasis
3043	HBB	HP:0001392	Abnormality of the liver
3043	HBB	HP:0001395	Hepatic fibrosis
3043	HBB	HP:0001394	Cirrhosis
3043	HBB	HP:0002659	Increased susceptibility to fractures
3043	HBB	HP:0000007	Autosomal recessive inheritance
3043	HBB	HP:0000006	Autosomal dominant inheritance
3043	HBB	HP:0000164	Abnormality of the dentition
3043	HBB	HP:0012132	Erythroid hyperplasia
3043	HBB	HP:0025435	Increased circulating lactate dehydrogenase concentration
3043	HBB	HP:0000135	Hypogonadism
3043	HBB	HP:0012119	Methemoglobinemia
3043	HBB	HP:0000114	Proximal tubulopathy
3043	HBB	HP:0002754	Osteomyelitis
3043	HBB	HP:0001433	Hepatosplenomegaly
3043	HBB	HP:0001410	Decreased liver function
3043	HBB	HP:0001402	Hepatocellular carcinoma
3043	HBB	HP:0002719	Recurrent infections
3043	HBB	HP:0002718	Recurrent bacterial infections
3043	HBB	HP:0002721	Immunodeficiency
3043	HBB	HP:0002027	Abdominal pain
3043	HBB	HP:0003330	Abnormal bone structure
3043	HBB	HP:0002014	Diarrhea
3043	HBB	HP:0002007	Frontal bossing
3043	HBB	HP:0002094	Dyspnea
3043	HBB	HP:0002092	Pulmonary arterial hypertension
3043	HBB	HP:0002113	Pulmonary infiltrates
3043	HBB	HP:0011906	Reduced beta/alpha synthesis ratio
3043	HBB	HP:0011907	Reduced alpha/beta synthesis ratio
3043	HBB	HP:0011902	Abnormal hemoglobin
3043	HBB	HP:0011904	Persistence of hemoglobin F
3043	HBB	HP:0011905	Reduced hemoglobin A
3043	HBB	HP:0002176	Spinal cord compression
3043	HBB	HP:0011842	Abnormal skeletal morphology
3043	HBB	HP:0008282	Unconjugated hyperbilirubinemia
3043	HBB	HP:0002240	Hepatomegaly
3043	HBB	HP:0004870	Chronic hemolytic anemia
3043	HBB	HP:0200123	Chronic hepatitis
3043	HBB	HP:0100724	Hypercoagulability
3043	HBB	HP:0100749	Chest pain
3043	HBB	HP:0008346	Increased red cell sickling tendency
3043	HBB	HP:0011981	Pigment gallstones
3043	HBB	HP:0011968	Feeding difficulties
3043	HBB	HP:0010620	Malar prominence
3043	HBB	HP:0430028	Hyperplasia of the maxilla
3043	HBB	HP:0004840	Hypochromic microcytic anemia
3043	HBB	HP:0020082	Heinz bodies
3043	HBB	HP:0020080	Erythrocyte inclusion bodies
3043	HBB	HP:0004817	Drug-sensitive hemolytic anemia
3043	HBB	HP:0020059	Increased red blood cell count
3043	HBB	HP:0004823	Anisopoikilocytosis
3043	HBB	HP:0200023	Priapism
3043	HBB	HP:0025066	Decreased mean corpuscular volume
3043	HBB	HP:0200042	Skin ulcer
3043	HBB	HP:0001081	Cholelithiasis
3043	HBB	HP:0032169	Severe infection
3043	HBB	HP:0004936	Venous thrombosis
3043	HBB	HP:0005546	Increased red cell osmotic resistance
3043	HBB	HP:0005511	Heinz body anemia
3043	HBB	HP:0005518	Increased mean corpuscular volume
3043	HBB	HP:0005560	Imbalanced hemoglobin synthesis
3043	HBB	HP:0001971	Hypersplenism
3043	HBB	HP:0001978	Extramedullary hematopoiesis
3043	HBB	HP:0001974	Leukocytosis
3043	HBB	HP:0001954	Recurrent fever
3043	HBB	HP:0001923	Reticulocytosis
3043	HBB	HP:0001935	Microcytic anemia
3043	HBB	HP:0001931	Hypochromic anemia
3043	HBB	HP:0001930	Nonspherocytic hemolytic anemia
3043	HBB	HP:0001903	Anemia
3043	HBB	HP:0001900	Increased hemoglobin
3043	HBB	HP:0001901	Polycythemia
3043	HBB	HP:0009004	Hypoplasia of the musculature
3043	HBB	HP:0004349	Reduced bone mineral density
3043	HBB	HP:0000737	Irritability
3043	HBB	HP:0000707	Abnormality of the nervous system
3043	HBB	HP:0000790	Hematuria
3043	HBB	HP:0000924	Abnormality of the skeletal system
3043	HBB	HP:0034280	Target cells
3043	HBB	HP:0000846	Adrenal insufficiency
3043	HBB	HP:0000819	Diabetes mellitus
3043	HBB	HP:0000829	Hypoparathyroidism
3043	HBB	HP:0000822	Hypertension
3043	HBB	HP:0000821	Hypothyroidism
3043	HBB	HP:0000823	Delayed puberty
3043	HBB	HP:0040075	Hypopituitarism
3043	HBB	HP:0045047	HbS hemoglobin
3043	HBB	HP:0045048	Increased HbA2 hemoglobin
3043	HBB	HP:0003281	Increased circulating ferritin concentration
3043	HBB	HP:0003259	Elevated circulating creatinine concentration
3043	HBB	HP:0000980	Pallor
3043	HBB	HP:0034336	Splenic infarction
3043	HBB	HP:0000953	Hyperpigmentation of the skin
3043	HBB	HP:0000952	Jaundice
3043	HBB	HP:0000961	Cyanosis
3043	HBB	HP:0000939	Osteoporosis
3043	HBB	HP:0000938	Osteopenia
3043	HBB	HP:0011675	Arrhythmia
3043	HBB	HP:0025547	Decreased mean corpuscular hemoglobin concentration
3043	HBB	HP:0030058	Sickled erythrocytes
3043	HBB	HP:0002829	Arthralgia
3043	HBB	HP:0001531	Failure to thrive in infancy
3043	HBB	HP:0002857	Genu valgum
3043	HBB	HP:0001511	Intrauterine growth retardation
3043	HBB	HP:0001510	Growth delay
3043	HBB	HP:0011031	Abnormality of iron homeostasis
3043	HBB	HP:0005268	Miscarriage
3043	HBB	HP:0006487	Bowing of the long bones
3043	HBB	HP:0001644	Dilated cardiomyopathy
3043	HBB	HP:0001626	Abnormality of the cardiovascular system
3043	HBB	HP:0001622	Premature birth
3043	HBB	HP:0001640	Cardiomegaly
3043	HBB	HP:0001722	High-output congestive heart failure
3043	HBB	HP:0005280	Depressed nasal bridge
3043	HBB	HP:0012465	Elevated hepatic iron concentration
3043	HBB	HP:0000488	Retinopathy
3043	HBB	HP:0012418	Hypoxemia
3043	HBB	HP:0001746	Asplenia
3043	HBB	HP:0001744	Splenomegaly
3043	HBB	HP:0001743	Abnormality of the spleen
3043	HBB	HP:0011273	Anisocytosis
3043	HBB	HP:0000582	Upslanted palpebral fissure
3043	HBB	HP:0001891	Iron deficiency anemia
3043	HBB	HP:0001894	Thrombocytosis
3043	HBB	HP:0001899	Increased hematocrit
3043	HBB	HP:0012531	Pain
3043	HBB	HP:0001878	Hemolytic anemia
3045	HBD	HP:0011902	Abnormal hemoglobin
3045	HBD	HP:0001935	Microcytic anemia
3045	HBD	HP:0001903	Anemia
3047	HBG1	HP:0000006	Autosomal dominant inheritance
3047	HBG1	HP:0002027	Abdominal pain
3047	HBG1	HP:0003330	Abnormal bone structure
3047	HBG1	HP:0002113	Pulmonary infiltrates
3047	HBG1	HP:0011902	Abnormal hemoglobin
3047	HBG1	HP:0011904	Persistence of hemoglobin F
3047	HBG1	HP:0002240	Hepatomegaly
3047	HBG1	HP:0008346	Increased red cell sickling tendency
3047	HBG1	HP:0004840	Hypochromic microcytic anemia
3047	HBG1	HP:0032169	Severe infection
3047	HBG1	HP:0001923	Reticulocytosis
3047	HBG1	HP:0001935	Microcytic anemia
3047	HBG1	HP:0001903	Anemia
3047	HBG1	HP:0045047	HbS hemoglobin
3047	HBG1	HP:0000980	Pallor
3047	HBG1	HP:0002829	Arthralgia
3047	HBG1	HP:0000488	Retinopathy
3047	HBG1	HP:0001746	Asplenia
3047	HBG1	HP:0001744	Splenomegaly
3048	HBG2	HP:0000006	Autosomal dominant inheritance
3048	HBG2	HP:0012119	Methemoglobinemia
3048	HBG2	HP:0002027	Abdominal pain
3048	HBG2	HP:0003330	Abnormal bone structure
3048	HBG2	HP:0002113	Pulmonary infiltrates
3048	HBG2	HP:0011904	Persistence of hemoglobin F
3048	HBG2	HP:0003577	Congenital onset
3048	HBG2	HP:0002240	Hepatomegaly
3048	HBG2	HP:0008346	Increased red cell sickling tendency
3048	HBG2	HP:0004840	Hypochromic microcytic anemia
3048	HBG2	HP:0032169	Severe infection
3048	HBG2	HP:0001923	Reticulocytosis
3048	HBG2	HP:0001903	Anemia
3048	HBG2	HP:0045047	HbS hemoglobin
3048	HBG2	HP:0000980	Pallor
3048	HBG2	HP:0000952	Jaundice
3048	HBG2	HP:0000961	Cyanosis
3048	HBG2	HP:0002829	Arthralgia
3048	HBG2	HP:0000488	Retinopathy
3048	HBG2	HP:0001746	Asplenia
3048	HBG2	HP:0001744	Splenomegaly
3052	HCCS	HP:0009939	Mandibular aplasia
3052	HCCS	HP:0001274	Agenesis of corpus callosum
3052	HCCS	HP:0001250	Seizure
3052	HCCS	HP:0001249	Intellectual disability
3052	HCCS	HP:0001263	Global developmental delay
3052	HCCS	HP:0007398	Asymmetric, linear skin defects
3052	HCCS	HP:0008665	Clitoral hypertrophy
3052	HCCS	HP:0000062	Ambiguous genitalia
3052	HCCS	HP:0000041	Chordee
3052	HCCS	HP:0000037	Male pseudohermaphroditism
3052	HCCS	HP:0000036	Abnormal penis morphology
3052	HCCS	HP:0000039	Epispadias
3052	HCCS	HP:0000054	Micropenis
3052	HCCS	HP:0000047	Hypospadias
3052	HCCS	HP:0000035	Abnormal testis morphology
3052	HCCS	HP:0001331	Absent septum pellucidum
3052	HCCS	HP:0001328	Specific learning disability
3052	HCCS	HP:0000013	Hypoplasia of the uterus
3052	HCCS	HP:0002623	Overriding aorta
3052	HCCS	HP:0000175	Cleft palate
3052	HCCS	HP:0001423	X-linked dominant inheritance
3052	HCCS	HP:0002023	Anal atresia
3052	HCCS	HP:0002034	Abnormal rectum morphology
3052	HCCS	HP:0011800	Midface retrusion
3052	HCCS	HP:0002098	Respiratory distress
3052	HCCS	HP:0002094	Dyspnea
3052	HCCS	HP:0010448	Colonic atresia
3052	HCCS	HP:0011716	Junctional ectopic tachycardia
3052	HCCS	HP:0002133	Status epilepticus
3052	HCCS	HP:0010529	Echolalia
3052	HCCS	HP:0003577	Congenital onset
3052	HCCS	HP:0011968	Feeding difficulties
3052	HCCS	HP:0003510	Severe short stature
3052	HCCS	HP:0001053	Hypopigmented skin patches
3052	HCCS	HP:0002381	Aphasia
3052	HCCS	HP:0001000	Abnormality of skin pigmentation
3052	HCCS	HP:0010783	Erythema
3052	HCCS	HP:0002300	Mutism
3052	HCCS	HP:0000646	Amblyopia
3052	HCCS	HP:0000647	Sclerocornea
3052	HCCS	HP:0000618	Blindness
3052	HCCS	HP:0000612	Iris coloboma
3052	HCCS	HP:0000614	Abnormal nasolacrimal system morphology
3052	HCCS	HP:0000627	Posterior embryotoxon
3052	HCCS	HP:0000682	Abnormal dental enamel morphology
3052	HCCS	HP:0000659	Peters anomaly
3052	HCCS	HP:0001999	Abnormal facial shape
3052	HCCS	HP:0004322	Short stature
3052	HCCS	HP:0004334	Dermal atrophy
3052	HCCS	HP:0004327	Abnormal vitreous humor morphology
3052	HCCS	HP:0004302	Functional motor deficit
3052	HCCS	HP:0004378	Abnormality of the anus
3052	HCCS	HP:0000776	Congenital diaphragmatic hernia
3052	HCCS	HP:0011531	Vitritis
3052	HCCS	HP:0012861	Ovotestis
3052	HCCS	HP:0000954	Single transverse palmar crease
3052	HCCS	HP:0000953	Hyperpigmentation of the skin
3052	HCCS	HP:0000960	Sacral dimple
3052	HCCS	HP:0008065	Aplasia/Hypoplasia of the skin
3052	HCCS	HP:0011675	Arrhythmia
3052	HCCS	HP:0007703	Abnormality of retinal pigmentation
3052	HCCS	HP:0000278	Retrognathia
3052	HCCS	HP:0001597	Abnormality of the nail
3052	HCCS	HP:0007731	Chorioretinal dysplasia
3052	HCCS	HP:0000238	Hydrocephalus
3052	HCCS	HP:0000252	Microcephaly
3052	HCCS	HP:0002878	Respiratory failure
3052	HCCS	HP:0001545	Anteriorly placed anus
3052	HCCS	HP:0001508	Failure to thrive
3052	HCCS	HP:0030048	Colpocephaly
3052	HCCS	HP:0001510	Growth delay
3052	HCCS	HP:0011027	Abnormal fallopian tube morphology
3052	HCCS	HP:0005180	Tricuspid regurgitation
3052	HCCS	HP:0005152	Histiocytoid cardiomyopathy
3052	HCCS	HP:0000363	Abnormal earlobe morphology
3052	HCCS	HP:0000365	Hearing impairment
3052	HCCS	HP:0011003	High myopia
3052	HCCS	HP:0001671	Abnormal cardiac septum morphology
3052	HCCS	HP:0000347	Micrognathia
3052	HCCS	HP:0001644	Dilated cardiomyopathy
3052	HCCS	HP:0001653	Mitral regurgitation
3052	HCCS	HP:0001629	Ventricular septal defect
3052	HCCS	HP:0001639	Hypertrophic cardiomyopathy
3052	HCCS	HP:0001631	Atrial septal defect
3052	HCCS	HP:0001634	Mitral valve prolapse
3052	HCCS	HP:0007957	Corneal opacity
3052	HCCS	HP:0000499	Abnormal eyelash morphology
3052	HCCS	HP:0007973	Retinal dysplasia
3052	HCCS	HP:0001704	Tricuspid valve prolapse
3052	HCCS	HP:0000492	Abnormal eyelid morphology
3052	HCCS	HP:0000445	Wide nose
3052	HCCS	HP:0000431	Wide nasal bridge
3052	HCCS	HP:0000518	Cataract
3052	HCCS	HP:0000528	Anophthalmia
3052	HCCS	HP:0000501	Glaucoma
3052	HCCS	HP:0011265	Cleft earlobe
3052	HCCS	HP:0000598	Abnormality of the ear
3052	HCCS	HP:0000580	Pigmentary retinopathy
3052	HCCS	HP:0000556	Retinal dystrophy
3052	HCCS	HP:0000572	Visual loss
3052	HCCS	HP:0000568	Microphthalmia
3053	SERPIND1	HP:0000006	Autosomal dominant inheritance
3053	SERPIND1	HP:0004761	Post-angioplasty coronary artery restenosis
3053	SERPIND1	HP:0004850	Recurrent deep vein thrombosis
3053	SERPIND1	HP:0005521	Disseminated intravascular coagulation
3054	HCFC1	HP:0001250	Seizure
3054	HCFC1	HP:0001252	Hypotonia
3054	HCFC1	HP:0001249	Intellectual disability
3054	HCFC1	HP:0001266	Choreoathetosis
3054	HCFC1	HP:0001263	Global developmental delay
3054	HCFC1	HP:0002521	Hypsarrhythmia
3054	HCFC1	HP:0012120	Methylmalonic aciduria
3054	HCFC1	HP:0001419	X-linked recessive inheritance
3054	HCFC1	HP:0002072	Chorea
3054	HCFC1	HP:0002156	Homocystinuria
3054	HCFC1	HP:0002188	Delayed CNS myelination
3054	HCFC1	HP:0002160	Hyperhomocystinemia
3054	HCFC1	HP:0003593	Infantile onset
3054	HCFC1	HP:0003623	Neonatal onset
3054	HCFC1	HP:0002305	Athetosis
3054	HCFC1	HP:0004322	Short stature
3054	HCFC1	HP:0030674	Antenatal onset
3054	HCFC1	HP:0000252	Microcephaly
3054	HCFC1	HP:0000248	Brachycephaly
3054	HCFC1	HP:0001508	Failure to thrive
3054	HCFC1	HP:0002912	Methylmalonic acidemia
3054	HCFC1	HP:0012469	Infantile spasms
3060	HCRT	HP:0002494	Abnormal rapid eye movement sleep
3060	HCRT	HP:0025233	Sleep paralysis
3060	HCRT	HP:0001279	Syncope
3060	HCRT	HP:0001262	Excessive daytime somnolence
3060	HCRT	HP:0002519	Hypnagogic hallucinations
3060	HCRT	HP:0002524	Cataplexy
3060	HCRT	HP:0001350	Slurred speech
3060	HCRT	HP:0000006	Autosomal dominant inheritance
3060	HCRT	HP:0010534	Transient global amnesia
3060	HCRT	HP:0003593	Infantile onset
3060	HCRT	HP:0100785	Insomnia
3060	HCRT	HP:0002360	Sleep disturbance
3060	HCRT	HP:0002330	Paroxysmal drowsiness
3060	HCRT	HP:0006896	Hypnopompic hallucinations
3060	HCRT	HP:0000738	Hallucinations
3060	HCRT	HP:0000708	Atypical behavior
3060	HCRT	HP:0030050	Narcolepsy
3060	HCRT	HP:0001513	Obesity
3060	HCRT	HP:0000478	Abnormality of the eye
3060	HCRT	HP:0000504	Abnormality of vision
3064	HTT	HP:0007256	Abnormal pyramidal sign
3064	HTT	HP:0010864	Intellectual disability, severe
3064	HTT	HP:0003763	Bruxism
3064	HTT	HP:0001276	Hypertonia
3064	HTT	HP:0001272	Cerebellar atrophy
3064	HTT	HP:0001268	Mental deterioration
3064	HTT	HP:0001288	Gait disturbance
3064	HTT	HP:0001250	Seizure
3064	HTT	HP:0001251	Ataxia
3064	HTT	HP:0002591	Polyphagia
3064	HTT	HP:0001263	Global developmental delay
3064	HTT	HP:0001262	Excessive daytime somnolence
3064	HTT	HP:0001257	Spasticity
3064	HTT	HP:0002540	Inability to walk
3064	HTT	HP:0002529	Neuronal loss in central nervous system
3064	HTT	HP:0002500	Abnormal cerebral white matter morphology
3064	HTT	HP:0001347	Hyperreflexia
3064	HTT	HP:0001332	Dystonia
3064	HTT	HP:0001344	Absent speech
3064	HTT	HP:0000007	Autosomal recessive inheritance
3064	HTT	HP:0001337	Tremor
3064	HTT	HP:0000006	Autosomal dominant inheritance
3064	HTT	HP:0001336	Myoclonus
3064	HTT	HP:0002650	Scoliosis
3064	HTT	HP:0008936	Axial hypotonia
3064	HTT	HP:0025401	Staring gaze
3064	HTT	HP:0002015	Dysphagia
3064	HTT	HP:0003324	Generalized muscle weakness
3064	HTT	HP:0002067	Bradykinesia
3064	HTT	HP:0002066	Gait ataxia
3064	HTT	HP:0002063	Rigidity
3064	HTT	HP:0002072	Chorea
3064	HTT	HP:0002073	Progressive cerebellar ataxia
3064	HTT	HP:0030955	Alcoholism
3064	HTT	HP:0002059	Cerebral atrophy
3064	HTT	HP:0002141	Gait imbalance
3064	HTT	HP:0003487	Babinski sign
3064	HTT	HP:0002119	Ventriculomegaly
3064	HTT	HP:0002136	Broad-based gait
3064	HTT	HP:0002169	Clonus
3064	HTT	HP:0002171	Gliosis
3064	HTT	HP:0003593	Infantile onset
3064	HTT	HP:0200147	Neuronal loss in basal ganglia
3064	HTT	HP:0100785	Insomnia
3064	HTT	HP:0200136	Oral-pharyngeal dysphagia
3064	HTT	HP:0007010	Poor fine motor coordination
3064	HTT	HP:0011968	Feeding difficulties
3064	HTT	HP:0002384	Focal impaired awareness seizure
3064	HTT	HP:0002360	Sleep disturbance
3064	HTT	HP:0002375	Hypokinesia
3064	HTT	HP:0002376	Developmental regression
3064	HTT	HP:0002340	Caudate atrophy
3064	HTT	HP:0002355	Difficulty walking
3064	HTT	HP:0002354	Memory impairment
3064	HTT	HP:0002317	Unsteady gait
3064	HTT	HP:0200055	Small hand
3064	HTT	HP:0010794	Impaired visuospatial constructive cognition
3064	HTT	HP:0002300	Mutism
3064	HTT	HP:0002312	Clumsiness
3064	HTT	HP:0031845	Abnormal libido
3064	HTT	HP:0031843	Bradyphrenia
3064	HTT	HP:0006855	Cerebellar vermis atrophy
3064	HTT	HP:0009088	Speech articulation difficulties
3064	HTT	HP:0004305	Involuntary movements
3064	HTT	HP:0000752	Hyperactivity
3064	HTT	HP:0000751	Personality changes
3064	HTT	HP:0000738	Hallucinations
3064	HTT	HP:0000737	Irritability
3064	HTT	HP:0000739	Anxiety
3064	HTT	HP:0000734	Disinhibition
3064	HTT	HP:0000746	Delusions
3064	HTT	HP:0000741	Apathy
3064	HTT	HP:0000716	Depression
3064	HTT	HP:0000718	Aggressive behavior
3064	HTT	HP:0000713	Agitation
3064	HTT	HP:0000726	Dementia
3064	HTT	HP:0000722	Compulsive behaviors
3064	HTT	HP:0000708	Atypical behavior
3064	HTT	HP:0011448	Ankle clonus
3064	HTT	HP:0003107	Abnormal circulating cholesterol concentration
3064	HTT	HP:0004408	Abnormality of the sense of smell
3064	HTT	HP:0045082	Decreased body mass index
3064	HTT	HP:0030842	Choking episodes
3064	HTT	HP:0040140	Degeneration of the striatum
3064	HTT	HP:0002808	Kyphosis
3064	HTT	HP:0030190	Oral motor hypotonia
3064	HTT	HP:0031473	Hostility
3064	HTT	HP:0000496	Abnormality of eye movement
3064	HTT	HP:0001773	Short foot
3064	HTT	HP:0031589	Suicidal ideation
3064	HTT	HP:0001824	Weight loss
3064	HTT	HP:0012547	Abnormal involuntary eye movements
3064	HTT	HP:0000545	Myopia
3067	HDC	HP:0000006	Autosomal dominant inheritance
3067	HDC	HP:0010529	Echolalia
3067	HDC	HP:0007018	Attention deficit hyperactivity disorder
3067	HDC	HP:0002360	Sleep disturbance
3067	HDC	HP:0100035	Phonic tics
3067	HDC	HP:0100034	Motor tics
3067	HDC	HP:0000742	Self-mutilation
3067	HDC	HP:0000718	Aggressive behavior
3070	HELLS	HP:0001270	Motor delay
3070	HELLS	HP:0001249	Intellectual disability
3070	HELLS	HP:0001263	Global developmental delay
3070	HELLS	HP:0000007	Autosomal recessive inheritance
3070	HELLS	HP:0001334	Communicating hydrocephalus
3070	HELLS	HP:0000158	Macroglossia
3070	HELLS	HP:0002719	Recurrent infections
3070	HELLS	HP:0002721	Immunodeficiency
3070	HELLS	HP:0002024	Malabsorption
3070	HELLS	HP:0003577	Congenital onset
3070	HELLS	HP:0002205	Recurrent respiratory infections
3070	HELLS	HP:0010808	Protruding tongue
3070	HELLS	HP:0001903	Anemia
3070	HELLS	HP:0004322	Short stature
3070	HELLS	HP:0004313	Decreased circulating antibody level
3070	HELLS	HP:0004432	Agammaglobulinemia
3070	HELLS	HP:0003220	Abnormality of chromosome stability
3070	HELLS	HP:0000286	Epicanthus
3070	HELLS	HP:0000256	Macrocephaly
3070	HELLS	HP:0001537	Umbilical hernia
3070	HELLS	HP:0002846	Abnormal B cell morphology
3070	HELLS	HP:0012368	Flat face
3070	HELLS	HP:0000369	Low-set ears
3070	HELLS	HP:0000347	Micrognathia
3070	HELLS	HP:0000316	Hypertelorism
3070	HELLS	HP:0005374	Cellular immunodeficiency
3070	HELLS	HP:0005280	Depressed nasal bridge
3070	HELLS	HP:0001888	Lymphopenia
3070	HELLS	HP:0001874	Abnormality of neutrophils
3071	NCKAP1L	HP:0000007	Autosomal recessive inheritance
3071	NCKAP1L	HP:0001433	Hepatosplenomegaly
3071	NCKAP1L	HP:0002719	Recurrent infections
3071	NCKAP1L	HP:0002716	Lymphadenopathy
3071	NCKAP1L	HP:0002110	Bronchiectasis
3071	NCKAP1L	HP:0003593	Infantile onset
3071	NCKAP1L	HP:0100759	Clubbing of fingers
3071	NCKAP1L	HP:0032163	Molluscum contagiosum
3071	NCKAP1L	HP:0032184	Increased proportion of memory T cells
3071	NCKAP1L	HP:0003237	Increased circulating IgG level
3071	NCKAP1L	HP:0003212	Increased circulating IgE level
3071	NCKAP1L	HP:0012302	Herpes simplex encephalitis
3071	NCKAP1L	HP:0000403	Recurrent otitis media
3071	NCKAP1L	HP:0005404	Increased B cell count
3073	HEXA	HP:0002421	Poor head control
3073	HEXA	HP:0001290	Generalized hypotonia
3073	HEXA	HP:0001276	Hypertonia
3073	HEXA	HP:0001250	Seizure
3073	HEXA	HP:0001252	Hypotonia
3073	HEXA	HP:0000007	Autosomal recessive inheritance
3073	HEXA	HP:0003495	GM2-ganglioside accumulation
3073	HEXA	HP:0002267	Exaggerated startle response
3073	HEXA	HP:0003593	Infantile onset
3073	HEXA	HP:0010729	Cherry red spot of the macula
3073	HEXA	HP:0002361	Psychomotor deterioration
3073	HEXA	HP:0000618	Blindness
3073	HEXA	HP:0000741	Apathy
3073	HEXA	HP:0000726	Dementia
3073	HEXA	HP:0000980	Pallor
3073	HEXA	HP:0002835	Aspiration
3074	HEXB	HP:0002493	Upper motor neuron dysfunction
3074	HEXB	HP:0002460	Distal muscle weakness
3074	HEXB	HP:0007272	Progressive psychomotor deterioration
3074	HEXB	HP:0007256	Abnormal pyramidal sign
3074	HEXB	HP:0003701	Proximal muscle weakness
3074	HEXB	HP:0025268	Stuttering
3074	HEXB	HP:0100814	Blue nevus
3074	HEXB	HP:0001278	Orthostatic hypotension
3074	HEXB	HP:0001272	Cerebellar atrophy
3074	HEXB	HP:0001268	Mental deterioration
3074	HEXB	HP:0001288	Gait disturbance
3074	HEXB	HP:0001250	Seizure
3074	HEXB	HP:0001252	Hypotonia
3074	HEXB	HP:0001251	Ataxia
3074	HEXB	HP:0001260	Dysarthria
3074	HEXB	HP:0001257	Spasticity
3074	HEXB	HP:0002574	Episodic abdominal pain
3074	HEXB	HP:0031006	Acroparesthesia
3074	HEXB	HP:0003819	Death in childhood
3074	HEXB	HP:0000020	Urinary incontinence
3074	HEXB	HP:0001347	Hyperreflexia
3074	HEXB	HP:0001332	Dystonia
3074	HEXB	HP:0001324	Muscle weakness
3074	HEXB	HP:0000007	Autosomal recessive inheritance
3074	HEXB	HP:0001337	Tremor
3074	HEXB	HP:0001336	Myoclonus
3074	HEXB	HP:0001315	Reduced tendon reflexes
3074	HEXB	HP:0000158	Macroglossia
3074	HEXB	HP:0008994	Proximal muscle weakness in lower limbs
3074	HEXB	HP:0001433	Hepatosplenomegaly
3074	HEXB	HP:0002019	Constipation
3074	HEXB	HP:0002028	Chronic diarrhea
3074	HEXB	HP:0002014	Diarrhea
3074	HEXB	HP:0002015	Dysphagia
3074	HEXB	HP:0100543	Cognitive impairment
3074	HEXB	HP:0002069	Bilateral tonic-clonic seizure
3074	HEXB	HP:0002066	Gait ataxia
3074	HEXB	HP:0003394	Muscle spasm
3074	HEXB	HP:0003390	Sensory axonal neuropathy
3074	HEXB	HP:0002071	Abnormality of extrapyramidal motor function
3074	HEXB	HP:0002059	Cerebral atrophy
3074	HEXB	HP:0003484	Upper limb muscle weakness
3074	HEXB	HP:0002120	Cerebral cortical atrophy
3074	HEXB	HP:0003429	CNS hypomyelination
3074	HEXB	HP:0002267	Exaggerated startle response
3074	HEXB	HP:0003593	Infantile onset
3074	HEXB	HP:0002240	Hepatomegaly
3074	HEXB	HP:0010729	Cherry red spot of the macula
3074	HEXB	HP:0100785	Insomnia
3074	HEXB	HP:0100786	Hypersomnia
3074	HEXB	HP:0007083	Hyperactive patellar reflex
3074	HEXB	HP:0002380	Fasciculations
3074	HEXB	HP:0002376	Developmental regression
3074	HEXB	HP:0010829	Impaired temperature sensation
3074	HEXB	HP:0010780	Hyperacusis
3074	HEXB	HP:0002311	Incoordination
3074	HEXB	HP:0000618	Blindness
3074	HEXB	HP:0009062	Infantile axial hypotonia
3074	HEXB	HP:0012696	Abnormal thalamic MRI signal intensity
3074	HEXB	HP:0000802	Impotence
3074	HEXB	HP:0004373	Focal dystonia
3074	HEXB	HP:0004343	Abnormal glycosphingolipid metabolism
3074	HEXB	HP:0000739	Anxiety
3074	HEXB	HP:0000729	Autistic behavior
3074	HEXB	HP:0012758	Neurodevelopmental delay
3074	HEXB	HP:0003121	Limb joint contracture
3074	HEXB	HP:0004481	Progressive macrocephaly
3074	HEXB	HP:0003236	Elevated circulating creatine kinase concentration
3074	HEXB	HP:0003202	Skeletal muscle atrophy
3074	HEXB	HP:0000975	Hyperhidrosis
3074	HEXB	HP:0000966	Hypohidrosis
3074	HEXB	HP:0100295	Muscle fiber atrophy
3074	HEXB	HP:0000280	Coarse facial features
3074	HEXB	HP:0000256	Macrocephaly
3074	HEXB	HP:0033978	Reduced beta-hexosaminidase activity
3074	HEXB	HP:0001508	Failure to thrive
3074	HEXB	HP:0032794	Myoclonic seizure
3074	HEXB	HP:0001653	Mitral regurgitation
3074	HEXB	HP:0001640	Cardiomegaly
3074	HEXB	HP:0001634	Mitral valve prolapse
3074	HEXB	HP:0001761	Pes cavus
3075	CFH	HP:0001269	Hemiparesis
3075	CFH	HP:0001250	Seizure
3075	CFH	HP:0001259	Coma
3075	CFH	HP:0007430	Generalized edema
3075	CFH	HP:0007401	Macular atrophy
3075	CFH	HP:0010982	Polygenic inheritance
3075	CFH	HP:0000093	Proteinuria
3075	CFH	HP:0001342	Cerebral hemorrhage
3075	CFH	HP:0000007	Autosomal recessive inheritance
3075	CFH	HP:0000006	Autosomal dominant inheritance
3075	CFH	HP:0002615	Hypotension
3075	CFH	HP:0025435	Increased circulating lactate dehydrogenase concentration
3075	CFH	HP:0410019	Epigastric pain
3075	CFH	HP:0002718	Recurrent bacterial infections
3075	CFH	HP:0002018	Nausea
3075	CFH	HP:0002027	Abdominal pain
3075	CFH	HP:0002014	Diarrhea
3075	CFH	HP:0002013	Vomiting
3075	CFH	HP:0100543	Cognitive impairment
3075	CFH	HP:0100519	Anuria
3075	CFH	HP:0100598	Pulmonary edema
3075	CFH	HP:0008151	Prolonged prothrombin time
3075	CFH	HP:0003418	Back pain
3075	CFH	HP:0004746	Glomerular subendothelial electron-dense deposits
3075	CFH	HP:0011900	Hypofibrinogenemia
3075	CFH	HP:0004722	Thickened glomerular basement membrane
3075	CFH	HP:0003596	Middle age onset
3075	CFH	HP:0003584	Late onset
3075	CFH	HP:0003581	Adult onset
3075	CFH	HP:0002202	Pleural effusion
3075	CFH	HP:0001058	Poor wound healing
3075	CFH	HP:0002381	Aphasia
3075	CFH	HP:0002315	Headache
3075	CFH	HP:0100601	Eclampsia
3075	CFH	HP:0100602	Preeclampsia
3075	CFH	HP:0003641	Hemoglobinuria
3075	CFH	HP:0003621	Juvenile onset
3075	CFH	HP:0030500	Yellow/white lesions of the macula
3075	CFH	HP:0005521	Disseminated intravascular coagulation
3075	CFH	HP:0030528	Paracentral scotoma
3075	CFH	HP:0005575	Hemolytic-uremic syndrome
3075	CFH	HP:0012622	Chronic kidney disease
3075	CFH	HP:0001981	Schistocytosis
3075	CFH	HP:0000613	Photophobia
3075	CFH	HP:0001945	Fever
3075	CFH	HP:0001923	Reticulocytosis
3075	CFH	HP:0001937	Microangiopathic hemolytic anemia
3075	CFH	HP:0000608	Macular degeneration
3075	CFH	HP:0001919	Acute kidney injury
3075	CFH	HP:0030499	Macular drusen
3075	CFH	HP:0004324	Increased body weight
3075	CFH	HP:0030629	Perifoveal ring of hyperautofluorescence
3075	CFH	HP:0030632	Hypoautofluorescent macular lesion
3075	CFH	HP:0030631	Hyperautofluorescent macular lesion
3075	CFH	HP:0003077	Hyperlipidemia
3075	CFH	HP:0011419	Placental abruption
3075	CFH	HP:0000790	Hematuria
3075	CFH	HP:0003138	Increased blood urea nitrogen
3075	CFH	HP:0011510	Drusen
3075	CFH	HP:0011509	Macular hyperpigmentation
3075	CFH	HP:0011506	Choroidal neovascularization
3075	CFH	HP:0000822	Hypertension
3075	CFH	HP:0030834	Shoulder pain
3075	CFH	HP:0003259	Elevated circulating creatinine concentration
3075	CFH	HP:0000979	Purpura
3075	CFH	HP:0008071	Maternal hypertension
3075	CFH	HP:0007703	Abnormality of retinal pigmentation
3075	CFH	HP:0025574	Macular hemorrhage
3075	CFH	HP:0025547	Decreased mean corpuscular hemoglobin concentration
3075	CFH	HP:0007793	Granular macular appearance
3075	CFH	HP:0007754	Macular dystrophy
3075	CFH	HP:0012231	Exudative retinal detachment
3075	CFH	HP:0012378	Fatigue
3075	CFH	HP:0031526	Subretinal fluid
3075	CFH	HP:0011029	Internal hemorrhage
3075	CFH	HP:0002910	Elevated hepatic transaminase
3075	CFH	HP:0007950	Peripapillary chorioretinal atrophy
3075	CFH	HP:0007937	Reticular pigmentary degeneration
3075	CFH	HP:0005389	Depletion of components of the alternative complement pathway
3075	CFH	HP:0005356	Decreased circulating complement factor I concentration
3075	CFH	HP:0005369	Decreased circulating complement factor H concentration
3075	CFH	HP:0025710	Late young adult onset
3075	CFH	HP:0005421	Decreased circulating complement C3 concentration
3075	CFH	HP:0005416	Decreased circulating complement factor B concentration
3075	CFH	HP:0012508	Metamorphopsia
3075	CFH	HP:0000529	Progressive visual loss
3075	CFH	HP:0000572	Visual loss
3075	CFH	HP:0001878	Hemolytic anemia
3075	CFH	HP:0001873	Thrombocytopenia
3077	HFE	HP:0032261	Nontuberculous mycobacterial pulmonary infection
3077	HFE	HP:0002423	Long-tract signs
3077	HFE	HP:0001254	Lethargy
3077	HFE	HP:0002570	Steatorrhea
3077	HFE	HP:0002511	Alzheimer disease
3077	HFE	HP:0032342	Reduced forced expiratory volume in one second
3077	HFE	HP:0001392	Abnormality of the liver
3077	HFE	HP:0001394	Cirrhosis
3077	HFE	HP:0000044	Hypogonadotropic hypogonadism
3077	HFE	HP:0001369	Arthritis
3077	HFE	HP:0001386	Joint swelling
3077	HFE	HP:0001387	Joint stiffness
3077	HFE	HP:0000029	Testicular atrophy
3077	HFE	HP:0000027	Azoospermia
3077	HFE	HP:0001324	Muscle weakness
3077	HFE	HP:0000007	Autosomal recessive inheritance
3077	HFE	HP:0000006	Autosomal dominant inheritance
3077	HFE	HP:0001300	Parkinsonism
3077	HFE	HP:0000141	Amenorrhea
3077	HFE	HP:0410054	Decreased circulating GABA concentration
3077	HFE	HP:0007574	Generalized bronze hyperpigmentation
3077	HFE	HP:0001409	Portal hypertension
3077	HFE	HP:0001402	Hepatocellular carcinoma
3077	HFE	HP:0002726	Recurrent Staphylococcus aureus infections
3077	HFE	HP:0002724	Recurrent Aspergillus infections
3077	HFE	HP:0002024	Malabsorption
3077	HFE	HP:0002020	Gastroesophageal reflux
3077	HFE	HP:0002019	Constipation
3077	HFE	HP:0002035	Rectal prolapse
3077	HFE	HP:0002027	Abdominal pain
3077	HFE	HP:0002013	Vomiting
3077	HFE	HP:0002099	Asthma
3077	HFE	HP:0100582	Nasal polyposis
3077	HFE	HP:0010473	Porphyrinuria
3077	HFE	HP:0003470	Paralysis
3077	HFE	HP:0003452	Increased serum iron
3077	HFE	HP:0002110	Bronchiectasis
3077	HFE	HP:0002107	Pneumothorax
3077	HFE	HP:0002105	Hemoptysis
3077	HFE	HP:0011911	Abnormal metacarpophalangeal joint morphology
3077	HFE	HP:0002185	Neurofibrillary tangles
3077	HFE	HP:0002240	Hepatomegaly
3077	HFE	HP:0003581	Adult onset
3077	HFE	HP:0002219	Facial hypertrichosis
3077	HFE	HP:0002202	Pleural effusion
3077	HFE	HP:0002205	Recurrent respiratory infections
3077	HFE	HP:0001030	Fragile skin
3077	HFE	HP:0001009	Telangiectasia
3077	HFE	HP:0009830	Peripheral neuropathy
3077	HFE	HP:0100626	Chronic hepatic failure
3077	HFE	HP:0100639	Erectile dysfunction
3077	HFE	HP:0005586	Hyperpigmentation in sun-exposed areas
3077	HFE	HP:0001952	Glucose intolerance
3077	HFE	HP:0003074	Hyperglycemia
3077	HFE	HP:0000802	Impotence
3077	HFE	HP:0003040	Arthropathy
3077	HFE	HP:0000771	Gynecomastia
3077	HFE	HP:0000739	Anxiety
3077	HFE	HP:0000741	Apathy
3077	HFE	HP:0000716	Depression
3077	HFE	HP:0000726	Dementia
3077	HFE	HP:0000709	Psychosis
3077	HFE	HP:0011462	Young adult onset
3077	HFE	HP:0000789	Infertility
3077	HFE	HP:0000787	Nephrolithiasis
3077	HFE	HP:0004401	Meconium ileus
3077	HFE	HP:0003199	Decreased muscle mass
3077	HFE	HP:0034283	Increased fecal protoporphyrin concentration
3077	HFE	HP:0003163	Elevated urinary delta-aminolevulinic acid
3077	HFE	HP:0100324	Scleroderma
3077	HFE	HP:0000819	Diabetes mellitus
3077	HFE	HP:0000821	Hypothyroidism
3077	HFE	HP:0012873	Absent vas deferens
3077	HFE	HP:0045082	Decreased body mass index
3077	HFE	HP:0003281	Increased circulating ferritin concentration
3077	HFE	HP:0030848	Elevated jugular venous pressure
3077	HFE	HP:0000992	Cutaneous photosensitivity
3077	HFE	HP:0000953	Hyperpigmentation of the skin
3077	HFE	HP:0000939	Osteoporosis
3077	HFE	HP:0000938	Osteopenia
3077	HFE	HP:0040171	Decreased serum testosterone concentration
3077	HFE	HP:0011675	Arrhythmia
3077	HFE	HP:0001596	Alopecia
3077	HFE	HP:0012236	Elevated sweat chloride
3077	HFE	HP:0002829	Arthralgia
3077	HFE	HP:0012217	Increased urinary porphobilinogen
3077	HFE	HP:0000246	Sinusitis
3077	HFE	HP:0001541	Ascites
3077	HFE	HP:0001508	Failure to thrive
3077	HFE	HP:0002842	Recurrent Burkholderia cepacia infections
3077	HFE	HP:0012378	Fatigue
3077	HFE	HP:0011031	Abnormality of iron homeostasis
3077	HFE	HP:0006536	Airway obstruction
3077	HFE	HP:0005198	Stiff interphalangeal joints
3077	HFE	HP:0002910	Elevated hepatic transaminase
3077	HFE	HP:0000365	Hearing impairment
3077	HFE	HP:0001649	Tachycardia
3077	HFE	HP:0030153	Cholangiocarcinoma
3077	HFE	HP:0001640	Cardiomegaly
3077	HFE	HP:0001635	Congestive heart failure
3077	HFE	HP:0001638	Cardiomyopathy
3077	HFE	HP:0005376	Recurrent Haemophilus influenzae infections
3077	HFE	HP:0001738	Exocrine pancreatic insufficiency
3077	HFE	HP:0012463	Elevated transferrin saturation
3077	HFE	HP:0001744	Splenomegaly
3077	HFE	HP:0001824	Weight loss
3077	HFE	HP:0001806	Onycholysis
3078	CFHR1	HP:0001269	Hemiparesis
3078	CFHR1	HP:0001250	Seizure
3078	CFHR1	HP:0001259	Coma
3078	CFHR1	HP:0000007	Autosomal recessive inheritance
3078	CFHR1	HP:0000006	Autosomal dominant inheritance
3078	CFHR1	HP:0002014	Diarrhea
3078	CFHR1	HP:0100543	Cognitive impairment
3078	CFHR1	HP:0100519	Anuria
3078	CFHR1	HP:0003584	Late onset
3078	CFHR1	HP:0002381	Aphasia
3078	CFHR1	HP:0005575	Hemolytic-uremic syndrome
3078	CFHR1	HP:0001981	Schistocytosis
3078	CFHR1	HP:0001945	Fever
3078	CFHR1	HP:0001923	Reticulocytosis
3078	CFHR1	HP:0001937	Microangiopathic hemolytic anemia
3078	CFHR1	HP:0000608	Macular degeneration
3078	CFHR1	HP:0001919	Acute kidney injury
3078	CFHR1	HP:0030499	Macular drusen
3078	CFHR1	HP:0012643	Foveal hypopigmentation
3078	CFHR1	HP:0003077	Hyperlipidemia
3078	CFHR1	HP:0003138	Increased blood urea nitrogen
3078	CFHR1	HP:0011506	Choroidal neovascularization
3078	CFHR1	HP:0000822	Hypertension
3078	CFHR1	HP:0003259	Elevated circulating creatinine concentration
3078	CFHR1	HP:0000979	Purpura
3078	CFHR1	HP:0025574	Macular hemorrhage
3078	CFHR1	HP:0031609	Geographic atrophy
3078	CFHR1	HP:0005356	Decreased circulating complement factor I concentration
3078	CFHR1	HP:0005369	Decreased circulating complement factor H concentration
3078	CFHR1	HP:0005421	Decreased circulating complement C3 concentration
3078	CFHR1	HP:0005416	Decreased circulating complement factor B concentration
3078	CFHR1	HP:0000529	Progressive visual loss
3078	CFHR1	HP:0001873	Thrombocytopenia
3081	HGD	HP:0033704	Elevated urinary homogentisic acid
3081	HGD	HP:0007400	Irregular hyperpigmentation
3081	HGD	HP:0033666	Diminished physical functioning
3081	HGD	HP:0008800	Limited hip movement
3081	HGD	HP:0001373	Joint dislocation
3081	HGD	HP:0001369	Arthritis
3081	HGD	HP:0001386	Joint swelling
3081	HGD	HP:0001387	Joint stiffness
3081	HGD	HP:0000024	Prostatitis
3081	HGD	HP:0000007	Autosomal recessive inheritance
3081	HGD	HP:0002621	Atherosclerosis
3081	HGD	HP:0002758	Osteoarthritis
3081	HGD	HP:0003355	Aminoaciduria
3081	HGD	HP:0004690	Thickened Achilles tendon
3081	HGD	HP:0100550	Tendon rupture
3081	HGD	HP:0100593	Calcification of cartilage
3081	HGD	HP:0003419	Low back pain
3081	HGD	HP:0010501	Limitation of knee mobility
3081	HGD	HP:0003593	Infantile onset
3081	HGD	HP:0003581	Adult onset
3081	HGD	HP:0100773	Cartilage destruction
3081	HGD	HP:0001000	Abnormality of skin pigmentation
3081	HGD	HP:0008419	Intervertebral disc degeneration
3081	HGD	HP:0004942	Aortic aneurysm
3081	HGD	HP:0005645	Intervertebral disk calcification
3081	HGD	HP:0004382	Mitral valve calcification
3081	HGD	HP:0004380	Aortic valve calcification
3081	HGD	HP:0003040	Arthropathy
3081	HGD	HP:0004349	Reduced bone mineral density
3081	HGD	HP:0000787	Nephrolithiasis
3081	HGD	HP:0030764	Ochronosis
3081	HGD	HP:0000822	Hypertension
3081	HGD	HP:0001597	Abnormality of the nail
3081	HGD	HP:0006467	Limited shoulder movement
3081	HGD	HP:0002829	Arthralgia
3081	HGD	HP:0002808	Kyphosis
3081	HGD	HP:0012213	Decreased glomerular filtration rate
3081	HGD	HP:0001507	Growth abnormality
3081	HGD	HP:0007832	Pigmentation of the sclera
3081	HGD	HP:0002948	Vertebral fusion
3081	HGD	HP:0000364	Hearing abnormality
3081	HGD	HP:0000366	Abnormality of the nose
3081	HGD	HP:0001658	Myocardial infarction
3081	HGD	HP:0001654	Abnormal heart valve morphology
3081	HGD	HP:0001717	Coronary artery calcification
3081	HGD	HP:0000478	Abnormality of the eye
3081	HGD	HP:0000504	Abnormality of vision
3081	HGD	HP:0000592	Blue sclerae
3082	HGF	HP:0000007	Autosomal recessive inheritance
3082	HGF	HP:0000399	Prelingual sensorineural hearing impairment
3090	HIC1	HP:0001250	Seizure
3090	HIC1	HP:0001251	Ataxia
3090	HIC1	HP:0001339	Lissencephaly
3090	HIC1	HP:0000177	Abnormal upper lip morphology
3090	HIC1	HP:0000112	Nephropathy
3090	HIC1	HP:0002079	Hypoplasia of the corpus callosum
3090	HIC1	HP:0002120	Cerebral cortical atrophy
3090	HIC1	HP:0002353	EEG abnormality
3090	HIC1	HP:0004209	Clinodactyly of the 5th finger
3090	HIC1	HP:0003196	Short nose
3090	HIC1	HP:0000960	Sacral dimple
3090	HIC1	HP:0000286	Epicanthus
3090	HIC1	HP:0001561	Polyhydramnios
3090	HIC1	HP:0001539	Omphalocele
3090	HIC1	HP:0001510	Growth delay
3090	HIC1	HP:0000348	High forehead
3090	HIC1	HP:0001626	Abnormality of the cardiovascular system
3090	HIC1	HP:0000463	Anteverted nares
3094	HINT1	HP:0001171	Split hand
3094	HINT1	HP:0002486	Myotonia
3094	HINT1	HP:0007289	Limb fasciculations
3094	HINT1	HP:0003760	Percussion-induced rapid rolling muscle contractions
3094	HINT1	HP:0002411	Myokymia
3094	HINT1	HP:0003710	Exercise-induced muscle cramps
3094	HINT1	HP:0001288	Gait disturbance
3094	HINT1	HP:0001284	Areflexia
3094	HINT1	HP:0001256	Intellectual disability, mild
3094	HINT1	HP:0002505	Loss of ambulation
3094	HINT1	HP:0001371	Flexion contracture
3094	HINT1	HP:0001328	Specific learning disability
3094	HINT1	HP:0000007	Autosomal recessive inheritance
3094	HINT1	HP:0001315	Reduced tendon reflexes
3094	HINT1	HP:0008991	Exercise-induced leg cramps
3094	HINT1	HP:0008954	Intrinsic hand muscle atrophy
3094	HINT1	HP:0008944	Distal lower limb amyotrophy
3094	HINT1	HP:0004686	Short third metatarsal
3094	HINT1	HP:0003394	Muscle spasm
3094	HINT1	HP:0003390	Sensory axonal neuropathy
3094	HINT1	HP:0003376	Steppage gait
3094	HINT1	HP:0003444	EMG: chronic denervation signs
3094	HINT1	HP:0003438	Absent Achilles reflex
3094	HINT1	HP:0003409	Distal sensory impairment of all modalities
3094	HINT1	HP:0002166	Impaired vibration sensation in the lower limbs
3094	HINT1	HP:0100490	Camptodactyly of finger
3094	HINT1	HP:0003401	Paresthesia
3094	HINT1	HP:0002273	Tetraparesis
3094	HINT1	HP:0003552	Muscle stiffness
3094	HINT1	HP:0003546	Exercise intolerance
3094	HINT1	HP:0007002	Motor axonal neuropathy
3094	HINT1	HP:0002380	Fasciculations
3094	HINT1	HP:0002359	Frequent falls
3094	HINT1	HP:0003676	Progressive
3094	HINT1	HP:0002356	Writer's cramp
3094	HINT1	HP:0003621	Juvenile onset
3094	HINT1	HP:0007178	Motor polyneuropathy
3094	HINT1	HP:0009077	Weakness of long finger extensor muscles
3094	HINT1	HP:0009053	Distal lower limb muscle weakness
3094	HINT1	HP:0009049	Peroneal muscle atrophy
3094	HINT1	HP:0009027	Foot dorsiflexor weakness
3094	HINT1	HP:0009005	Weakness of the intrinsic hand muscles
3094	HINT1	HP:0011463	Childhood onset
3094	HINT1	HP:0011462	Young adult onset
3094	HINT1	HP:0009130	Hand muscle atrophy
3094	HINT1	HP:0012899	Handgrip myotonia
3094	HINT1	HP:0003236	Elevated circulating creatine kinase concentration
3094	HINT1	HP:0003202	Skeletal muscle atrophy
3094	HINT1	HP:0000975	Hyperhidrosis
3094	HINT1	HP:0100288	EMG: myokymic discharges
3094	HINT1	HP:0034351	Neuromyotonia
3094	HINT1	HP:0002936	Distal sensory impairment
3094	HINT1	HP:0002943	Thoracic scoliosis
3094	HINT1	HP:0030198	Fatigable weakness of distal limb muscles
3094	HINT1	HP:0001771	Achilles tendon contracture
3094	HINT1	HP:0001760	Abnormal foot morphology
3094	HINT1	HP:0001761	Pes cavus
3097	HIVEP2	HP:0001182	Tapered finger
3097	HIVEP2	HP:0009907	Attached earlobe
3097	HIVEP2	HP:0008551	Microtia
3097	HIVEP2	HP:0002421	Poor head control
3097	HIVEP2	HP:0001250	Seizure
3097	HIVEP2	HP:0001252	Hypotonia
3097	HIVEP2	HP:0001251	Ataxia
3097	HIVEP2	HP:0001249	Intellectual disability
3097	HIVEP2	HP:0001263	Global developmental delay
3097	HIVEP2	HP:0025336	Delayed ability to sit
3097	HIVEP2	HP:0001385	Hip dysplasia
3097	HIVEP2	HP:0001332	Dystonia
3097	HIVEP2	HP:0033725	Thin corpus callosum
3097	HIVEP2	HP:0001344	Absent speech
3097	HIVEP2	HP:0000006	Autosomal dominant inheritance
3097	HIVEP2	HP:0000160	Narrow mouth
3097	HIVEP2	HP:0002020	Gastroesophageal reflux
3097	HIVEP2	HP:0002079	Hypoplasia of the corpus callosum
3097	HIVEP2	HP:0033128	Delayed ability to crawl
3097	HIVEP2	HP:0003593	Infantile onset
3097	HIVEP2	HP:0003577	Congenital onset
3097	HIVEP2	HP:0100710	Impulsivity
3097	HIVEP2	HP:0011968	Feeding difficulties
3097	HIVEP2	HP:0001007	Hirsutism
3097	HIVEP2	HP:0009765	Low hanging columella
3097	HIVEP2	HP:0002307	Drooling
3097	HIVEP2	HP:0000664	Synophrys
3097	HIVEP2	HP:0006913	Frontal cortical atrophy
3097	HIVEP2	HP:0031936	Delayed ability to walk
3097	HIVEP2	HP:0000752	Hyperactivity
3097	HIVEP2	HP:0000739	Anxiety
3097	HIVEP2	HP:0000750	Delayed speech and language development
3097	HIVEP2	HP:0000718	Aggressive behavior
3097	HIVEP2	HP:0000729	Autistic behavior
3097	HIVEP2	HP:0000252	Microcephaly
3097	HIVEP2	HP:0000219	Thin upper lip vermilion
3097	HIVEP2	HP:0000218	High palate
3097	HIVEP2	HP:0000212	Gingival overgrowth
3097	HIVEP2	HP:0001537	Umbilical hernia
3097	HIVEP2	HP:0001508	Failure to thrive
3097	HIVEP2	HP:0011094	Increased overbite
3097	HIVEP2	HP:0000348	High forehead
3097	HIVEP2	HP:0000316	Hypertelorism
3097	HIVEP2	HP:0001642	Pulmonic stenosis
3097	HIVEP2	HP:0000322	Short philtrum
3097	HIVEP2	HP:0000463	Anteverted nares
3097	HIVEP2	HP:0012450	Chronic constipation
3097	HIVEP2	HP:0001763	Pes planus
3097	HIVEP2	HP:0000431	Wide nasal bridge
3097	HIVEP2	HP:0000426	Prominent nasal bridge
3097	HIVEP2	HP:0000582	Upslanted palpebral fissure
3097	HIVEP2	HP:0000540	Hypermetropia
3098	HK1	HP:0001155	Abnormality of the hand
3098	HK1	HP:0002495	Impaired vibratory sensation
3098	HK1	HP:0001133	Constriction of peripheral visual field
3098	HK1	HP:0002460	Distal muscle weakness
3098	HK1	HP:0007328	Impaired pain sensation
3098	HK1	HP:0007230	Decreased distal sensory nerve action potential
3098	HK1	HP:0007210	Lower limb amyotrophy
3098	HK1	HP:0003701	Proximal muscle weakness
3098	HK1	HP:0001272	Cerebellar atrophy
3098	HK1	HP:0001283	Bulbar palsy
3098	HK1	HP:0001284	Areflexia
3098	HK1	HP:0001251	Ataxia
3098	HK1	HP:0001249	Intellectual disability
3098	HK1	HP:0001265	Hyporeflexia
3098	HK1	HP:0001263	Global developmental delay
3098	HK1	HP:0008755	Laryngotracheomalacia
3098	HK1	HP:0007401	Macular atrophy
3098	HK1	HP:0002509	Limb hypertonia
3098	HK1	HP:0002505	Loss of ambulation
3098	HK1	HP:0012078	Motor conduction block
3098	HK1	HP:0025336	Delayed ability to sit
3098	HK1	HP:0000007	Autosomal recessive inheritance
3098	HK1	HP:0000006	Autosomal dominant inheritance
3098	HK1	HP:0002650	Scoliosis
3098	HK1	HP:0007663	Reduced visual acuity
3098	HK1	HP:0008959	Distal upper limb muscle weakness
3098	HK1	HP:0008936	Axial hypotonia
3098	HK1	HP:0008944	Distal lower limb amyotrophy
3098	HK1	HP:0002007	Frontal bossing
3098	HK1	HP:0002079	Hypoplasia of the corpus callosum
3098	HK1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
3098	HK1	HP:0003477	Peripheral axonal neuropathy
3098	HK1	HP:0002141	Gait imbalance
3098	HK1	HP:0003470	Paralysis
3098	HK1	HP:0003450	Axonal regeneration
3098	HK1	HP:0002119	Ventriculomegaly
3098	HK1	HP:0003431	Decreased motor nerve conduction velocity
3098	HK1	HP:0003409	Distal sensory impairment of all modalities
3098	HK1	HP:0003577	Congenital onset
3098	HK1	HP:0100704	Cerebral visual impairment
3098	HK1	HP:0011968	Feeding difficulties
3098	HK1	HP:0011947	Respiratory tract infection
3098	HK1	HP:0003693	Distal amyotrophy
3098	HK1	HP:0003676	Progressive
3098	HK1	HP:0002355	Difficulty walking
3098	HK1	HP:0010830	Impaired tactile sensation
3098	HK1	HP:0009830	Peripheral neuropathy
3098	HK1	HP:0001081	Cholelithiasis
3098	HK1	HP:0001082	Cholecystitis
3098	HK1	HP:0007108	Demyelinating peripheral neuropathy
3098	HK1	HP:0003621	Juvenile onset
3098	HK1	HP:0007182	Peripheral hypomyelination
3098	HK1	HP:0000639	Nystagmus
3098	HK1	HP:0000648	Optic atrophy
3098	HK1	HP:0000613	Photophobia
3098	HK1	HP:0001923	Reticulocytosis
3098	HK1	HP:0001930	Nonspherocytic hemolytic anemia
3098	HK1	HP:0009053	Distal lower limb muscle weakness
3098	HK1	HP:0000687	Widely spaced teeth
3098	HK1	HP:0000662	Nyctalopia
3098	HK1	HP:0004322	Short stature
3098	HK1	HP:0006970	Periventricular leukomalacia
3098	HK1	HP:0031936	Delayed ability to walk
3098	HK1	HP:0000750	Delayed speech and language development
3098	HK1	HP:0012799	Unilateral facial palsy
3098	HK1	HP:0011463	Childhood onset
3098	HK1	HP:0011462	Young adult onset
3098	HK1	HP:0009129	Upper limb amyotrophy
3098	HK1	HP:0004467	Preauricular pit
3098	HK1	HP:0034337	Claw hand deformity
3098	HK1	HP:0000952	Jaundice
3098	HK1	HP:0008081	Pes valgus
3098	HK1	HP:0000286	Epicanthus
3098	HK1	HP:0007737	Bone spicule pigmentation of the retina
3098	HK1	HP:0002827	Hip dislocation
3098	HK1	HP:0000219	Thin upper lip vermilion
3098	HK1	HP:0007843	Attenuation of retinal blood vessels
3098	HK1	HP:0011096	Peripheral demyelination
3098	HK1	HP:0002936	Distal sensory impairment
3098	HK1	HP:0001618	Dysphonia
3098	HK1	HP:0002904	Hyperbilirubinemia
3098	HK1	HP:0000365	Hearing impairment
3098	HK1	HP:0000483	Astigmatism
3098	HK1	HP:0000486	Strabismus
3098	HK1	HP:0012469	Infantile spasms
3098	HK1	HP:0000463	Anteverted nares
3098	HK1	HP:0000473	Torticollis
3098	HK1	HP:0001763	Pes planus
3098	HK1	HP:0000414	Bulbous nose
3098	HK1	HP:0001744	Splenomegaly
3098	HK1	HP:0001760	Abnormal foot morphology
3098	HK1	HP:0001762	Talipes equinovarus
3098	HK1	HP:0001761	Pes cavus
3098	HK1	HP:0005469	Flat occiput
3098	HK1	HP:0000510	Rod-cone dystrophy
3098	HK1	HP:0000508	Ptosis
3098	HK1	HP:0001895	Normochromic anemia
3098	HK1	HP:0001897	Normocytic anemia
3098	HK1	HP:0000543	Optic disc pallor
3105	HLA-A	HP:0100832	Vitreous floaters
3105	HLA-A	HP:0100533	Inflammatory abnormality of the eye
3105	HLA-A	HP:0200056	Macular scar
3105	HLA-A	HP:0030530	Arcuate scotoma
3105	HLA-A	HP:0000613	Photophobia
3105	HLA-A	HP:0000610	Abnormal choroid morphology
3105	HLA-A	HP:0000622	Blurred vision
3105	HLA-A	HP:0030644	Blind-spot enlargment
3105	HLA-A	HP:0030609	Photoreceptor layer loss on macular OCT
3105	HLA-A	HP:0100014	Epiretinal membrane
3105	HLA-A	HP:0011531	Vitritis
3105	HLA-A	HP:0011508	Macular hole
3105	HLA-A	HP:0011506	Choroidal neovascularization
3105	HLA-A	HP:0011505	Cystoid macular edema
3105	HLA-A	HP:0008046	Abnormal retinal vascular morphology
3105	HLA-A	HP:0007843	Attenuation of retinal blood vessels
3105	HLA-A	HP:0007906	Ocular hypertension
3105	HLA-A	HP:0030329	Retinal thinning
3105	HLA-A	HP:0000518	Cataract
3105	HLA-A	HP:0000572	Visual loss
3105	HLA-A	HP:0000541	Retinal detachment
3105	HLA-A	HP:0000532	Abnormal chorioretinal morphology
3105	HLA-A	HP:0000543	Optic disc pallor
3106	HLA-B	HP:0003765	Psoriasiform dermatitis
3106	HLA-B	HP:0001123	Visual field defect
3106	HLA-B	HP:0003781	Excessive salivation
3106	HLA-B	HP:0007256	Abnormal pyramidal sign
3106	HLA-B	HP:0010885	Avascular necrosis
3106	HLA-B	HP:0100806	Sepsis
3106	HLA-B	HP:0100820	Glomerulopathy
3106	HLA-B	HP:0001269	Hemiparesis
3106	HLA-B	HP:0001287	Meningitis
3106	HLA-B	HP:0001289	Confusion
3106	HLA-B	HP:0001288	Gait disturbance
3106	HLA-B	HP:0001250	Seizure
3106	HLA-B	HP:0001251	Ataxia
3106	HLA-B	HP:0002516	Increased intracranial pressure
3106	HLA-B	HP:0000083	Renal insufficiency
3106	HLA-B	HP:0001399	Hepatic failure
3106	HLA-B	HP:0001369	Arthritis
3106	HLA-B	HP:0001386	Joint swelling
3106	HLA-B	HP:0001387	Joint stiffness
3106	HLA-B	HP:0001347	Hyperreflexia
3106	HLA-B	HP:0008843	Hip osteoarthritis
3106	HLA-B	HP:0001324	Muscle weakness
3106	HLA-B	HP:0000010	Recurrent urinary tract infections
3106	HLA-B	HP:0002637	Cerebral ischemia
3106	HLA-B	HP:0002633	Vasculitis
3106	HLA-B	HP:0002647	Aortic dissection
3106	HLA-B	HP:0002617	Vascular dilatation
3106	HLA-B	HP:0000155	Oral ulcer
3106	HLA-B	HP:0001482	Subcutaneous nodule
3106	HLA-B	HP:0012122	Anterior uveitis
3106	HLA-B	HP:0002793	Abnormal pattern of respiration
3106	HLA-B	HP:0001426	Multifactorial inheritance
3106	HLA-B	HP:0002754	Osteomyelitis
3106	HLA-B	HP:0002716	Lymphadenopathy
3106	HLA-B	HP:0002024	Malabsorption
3106	HLA-B	HP:0002017	Nausea and vomiting
3106	HLA-B	HP:0002037	Inflammation of the large intestine
3106	HLA-B	HP:0002027	Abdominal pain
3106	HLA-B	HP:0040313	Oligoarthritis
3106	HLA-B	HP:0003326	Myalgia
3106	HLA-B	HP:0002014	Diarrhea
3106	HLA-B	HP:0002015	Dysphagia
3106	HLA-B	HP:0100533	Inflammatory abnormality of the eye
3106	HLA-B	HP:0100545	Arterial stenosis
3106	HLA-B	HP:0100543	Cognitive impairment
3106	HLA-B	HP:0002094	Dyspnea
3106	HLA-B	HP:0002092	Pulmonary arterial hypertension
3106	HLA-B	HP:0002093	Respiratory insufficiency
3106	HLA-B	HP:0002091	Restrictive ventilatory defect
3106	HLA-B	HP:0002076	Migraine
3106	HLA-B	HP:0002043	Esophageal stricture
3106	HLA-B	HP:0002039	Anorexia
3106	HLA-B	HP:0100518	Dysuria
3106	HLA-B	HP:0100584	Endocarditis
3106	HLA-B	HP:0100576	Amaurosis fugax
3106	HLA-B	HP:0002102	Pleuritis
3106	HLA-B	HP:0002103	Abnormal pleura morphology
3106	HLA-B	HP:0002113	Pulmonary infiltrates
3106	HLA-B	HP:0002105	Hemoptysis
3106	HLA-B	HP:0003418	Back pain
3106	HLA-B	HP:0002167	Abnormality of speech or vocalization
3106	HLA-B	HP:0003401	Paresthesia
3106	HLA-B	HP:0002239	Gastrointestinal hemorrhage
3106	HLA-B	HP:0003565	Elevated erythrocyte sedimentation rate
3106	HLA-B	HP:0002202	Pleural effusion
3106	HLA-B	HP:0002205	Recurrent respiratory infections
3106	HLA-B	HP:0002206	Pulmonary fibrosis
3106	HLA-B	HP:0002204	Pulmonary embolism
3106	HLA-B	HP:0100773	Cartilage destruction
3106	HLA-B	HP:0100776	Recurrent pharyngitis
3106	HLA-B	HP:0100792	Acantholysis
3106	HLA-B	HP:0100796	Orchitis
3106	HLA-B	HP:0100721	Mediastinal lymphadenopathy
3106	HLA-B	HP:0100735	Hypertensive crisis
3106	HLA-B	HP:0100749	Chest pain
3106	HLA-B	HP:0100758	Gangrene
3106	HLA-B	HP:0008391	Dystrophic fingernails
3106	HLA-B	HP:0002383	Infectious encephalitis
3106	HLA-B	HP:0001061	Acne
3106	HLA-B	HP:0002376	Developmental regression
3106	HLA-B	HP:0002354	Memory impairment
3106	HLA-B	HP:0002321	Vertigo
3106	HLA-B	HP:0002315	Headache
3106	HLA-B	HP:0200020	Corneal erosion
3106	HLA-B	HP:0100653	Optic neuritis
3106	HLA-B	HP:0100654	Retrobulbar optic neuritis
3106	HLA-B	HP:0200034	Papule
3106	HLA-B	HP:0009830	Peripheral neuropathy
3106	HLA-B	HP:0001097	Keratoconjunctivitis sicca
3106	HLA-B	HP:0100614	Myositis
3106	HLA-B	HP:0200039	Pustule
3106	HLA-B	HP:0200042	Skin ulcer
3106	HLA-B	HP:0010783	Erythema
3106	HLA-B	HP:0100686	Enthesitis
3106	HLA-B	HP:0004970	Ascending tubular aorta aneurysm
3106	HLA-B	HP:0004936	Venous thrombosis
3106	HLA-B	HP:0006824	Cranial nerve paralysis
3106	HLA-B	HP:0000639	Nystagmus
3106	HLA-B	HP:0000651	Diplopia
3106	HLA-B	HP:0000648	Optic atrophy
3106	HLA-B	HP:0000618	Blindness
3106	HLA-B	HP:0000613	Photophobia
3106	HLA-B	HP:0001945	Fever
3106	HLA-B	HP:0001960	Hypokalemic metabolic alkalosis
3106	HLA-B	HP:0000621	Entropion
3106	HLA-B	HP:0001903	Anemia
3106	HLA-B	HP:0012649	Increased inflammatory response
3106	HLA-B	HP:0004306	Abnormal endocardium morphology
3106	HLA-B	HP:0004372	Reduced consciousness/confusion
3106	HLA-B	HP:0012735	Cough
3106	HLA-B	HP:0012733	Macule
3106	HLA-B	HP:0000737	Irritability
3106	HLA-B	HP:0000716	Depression
3106	HLA-B	HP:0000708	Atypical behavior
3106	HLA-B	HP:0000795	Abnormality of the urethra
3106	HLA-B	HP:0000790	Hematuria
3106	HLA-B	HP:0004420	Arterial thrombosis
3106	HLA-B	HP:0000873	Diabetes insipidus
3106	HLA-B	HP:0100326	Immunologic hypersensitivity
3106	HLA-B	HP:0000822	Hypertension
3106	HLA-B	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
3106	HLA-B	HP:0000975	Hyperhidrosis
3106	HLA-B	HP:0000962	Hyperkeratosis
3106	HLA-B	HP:0008066	Abnormal blistering of the skin
3106	HLA-B	HP:0011675	Arrhythmia
3106	HLA-B	HP:0001597	Abnormality of the nail
3106	HLA-B	HP:0001596	Alopecia
3106	HLA-B	HP:0005112	Abdominal aortic aneurysm
3106	HLA-B	HP:0002829	Arthralgia
3106	HLA-B	HP:0002808	Kyphosis
3106	HLA-B	HP:0030016	Dyspareunia
3106	HLA-B	HP:0000206	Glossitis
3106	HLA-B	HP:0012378	Fatigue
3106	HLA-B	HP:0005244	Gastrointestinal infarctions
3106	HLA-B	HP:0005216	Impaired mastication
3106	HLA-B	HP:0006554	Acute hepatic failure
3106	HLA-B	HP:0002910	Elevated hepatic transaminase
3106	HLA-B	HP:0002923	Rheumatoid factor positive
3106	HLA-B	HP:0000365	Hearing impairment
3106	HLA-B	HP:0012317	Sacroiliac arthritis
3106	HLA-B	HP:0001646	Abnormal aortic valve morphology
3106	HLA-B	HP:0001645	Sudden cardiac death
3106	HLA-B	HP:0001658	Myocardial infarction
3106	HLA-B	HP:0001659	Aortic regurgitation
3106	HLA-B	HP:0001654	Abnormal heart valve morphology
3106	HLA-B	HP:0001653	Mitral regurgitation
3106	HLA-B	HP:0001639	Hypertrophic cardiomyopathy
3106	HLA-B	HP:0001637	Abnormal myocardium morphology
3106	HLA-B	HP:0000405	Conductive hearing impairment
3106	HLA-B	HP:0001733	Pancreatitis
3106	HLA-B	HP:0001701	Pericarditis
3106	HLA-B	HP:0000488	Retinopathy
3106	HLA-B	HP:0011107	Recurrent aphthous stomatitis
3106	HLA-B	HP:0001744	Splenomegaly
3106	HLA-B	HP:0000421	Epistaxis
3106	HLA-B	HP:0000518	Cataract
3106	HLA-B	HP:0001824	Weight loss
3106	HLA-B	HP:0000509	Conjunctivitis
3106	HLA-B	HP:0000508	Ptosis
3106	HLA-B	HP:0000505	Visual impairment
3106	HLA-B	HP:0000597	Ophthalmoparesis
3106	HLA-B	HP:0000572	Visual loss
3106	HLA-B	HP:0001872	Abnormality of thrombocytes
3106	HLA-B	HP:0001874	Abnormality of neutrophils
3106	HLA-B	HP:0001873	Thrombocytopenia
3107	HLA-C	HP:0003765	Psoriasiform dermatitis
3107	HLA-C	HP:0001369	Arthritis
3107	HLA-C	HP:0001426	Multifactorial inheritance
3107	HLA-C	HP:0025088	Onychomadesis
3107	HLA-C	HP:0001806	Onycholysis
3107	HLA-C	HP:0001803	Nail pits
3110	MNX1	HP:0001153	Septate vagina
3110	MNX1	HP:0007293	Anterior sacral meningocele
3110	MNX1	HP:0100806	Sepsis
3110	MNX1	HP:0001263	Global developmental delay
3110	MNX1	HP:0008736	Hypoplasia of penis
3110	MNX1	HP:0003829	Typified by incomplete penetrance
3110	MNX1	HP:0000085	Horseshoe kidney
3110	MNX1	HP:0000076	Vesicoureteral reflux
3110	MNX1	HP:0000037	Male pseudohermaphroditism
3110	MNX1	HP:0000048	Bifid scrotum
3110	MNX1	HP:0000047	Hypospadias
3110	MNX1	HP:0000020	Urinary incontinence
3110	MNX1	HP:0000011	Neurogenic bladder
3110	MNX1	HP:0000010	Recurrent urinary tract infections
3110	MNX1	HP:0000006	Autosomal dominant inheritance
3110	MNX1	HP:0002617	Vascular dilatation
3110	MNX1	HP:0000143	Rectovaginal fistula
3110	MNX1	HP:0002025	Anal stenosis
3110	MNX1	HP:0002023	Anal atresia
3110	MNX1	HP:0100559	Lower limb asymmetry
3110	MNX1	HP:0010447	Anal fistula
3110	MNX1	HP:0002144	Tethered cord
3110	MNX1	HP:0004796	Gastrointestinal obstruction
3110	MNX1	HP:0003577	Congenital onset
3110	MNX1	HP:0002242	Abnormal intestine morphology
3110	MNX1	HP:0008517	Aplasia/Hypoplasia of the sacrum
3110	MNX1	HP:0009791	Bifid sacrum
3110	MNX1	HP:0009790	Hemisacrum
3110	MNX1	HP:0009793	Presacral teratoma
3110	MNX1	HP:0009789	Perianal abscess
3110	MNX1	HP:0100026	Arteriovenous malformation
3110	MNX1	HP:0030736	Sacrococcygeal teratoma
3110	MNX1	HP:0000813	Bicornuate uterus
3110	MNX1	HP:0003270	Abdominal distention
3110	MNX1	HP:0010305	Absence of the sacrum
3110	MNX1	HP:0012450	Chronic constipation
3113	HLA-DPA1	HP:0100820	Glomerulopathy
3113	HLA-DPA1	HP:0001287	Meningitis
3113	HLA-DPA1	HP:0001250	Seizure
3113	HLA-DPA1	HP:0000083	Renal insufficiency
3113	HLA-DPA1	HP:0000093	Proteinuria
3113	HLA-DPA1	HP:0000071	Ureteral stenosis
3113	HLA-DPA1	HP:0000024	Prostatitis
3113	HLA-DPA1	HP:0002637	Cerebral ischemia
3113	HLA-DPA1	HP:0002633	Vasculitis
3113	HLA-DPA1	HP:0000163	Abnormal oral cavity morphology
3113	HLA-DPA1	HP:0000126	Hydronephrosis
3113	HLA-DPA1	HP:0002017	Nausea and vomiting
3113	HLA-DPA1	HP:0002027	Abdominal pain
3113	HLA-DPA1	HP:0003326	Myalgia
3113	HLA-DPA1	HP:0100533	Inflammatory abnormality of the eye
3113	HLA-DPA1	HP:0100539	Periorbital edema
3113	HLA-DPA1	HP:0002093	Respiratory insufficiency
3113	HLA-DPA1	HP:0002091	Restrictive ventilatory defect
3113	HLA-DPA1	HP:0002102	Pleuritis
3113	HLA-DPA1	HP:0002113	Pulmonary infiltrates
3113	HLA-DPA1	HP:0002105	Hemoptysis
3113	HLA-DPA1	HP:0002239	Gastrointestinal hemorrhage
3113	HLA-DPA1	HP:0003565	Elevated erythrocyte sedimentation rate
3113	HLA-DPA1	HP:0002205	Recurrent respiratory infections
3113	HLA-DPA1	HP:0002206	Pulmonary fibrosis
3113	HLA-DPA1	HP:0100749	Chest pain
3113	HLA-DPA1	HP:0100758	Gangrene
3113	HLA-DPA1	HP:0002315	Headache
3113	HLA-DPA1	HP:0200034	Papule
3113	HLA-DPA1	HP:0009830	Peripheral neuropathy
3113	HLA-DPA1	HP:0200042	Skin ulcer
3113	HLA-DPA1	HP:0002301	Hemiplegia
3113	HLA-DPA1	HP:0004936	Venous thrombosis
3113	HLA-DPA1	HP:0006824	Cranial nerve paralysis
3113	HLA-DPA1	HP:0001945	Fever
3113	HLA-DPA1	HP:0012649	Increased inflammatory response
3113	HLA-DPA1	HP:0012735	Cough
3113	HLA-DPA1	HP:0000763	Sensory neuropathy
3113	HLA-DPA1	HP:0000790	Hematuria
3113	HLA-DPA1	HP:0000873	Diabetes insipidus
3113	HLA-DPA1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
3113	HLA-DPA1	HP:0000822	Hypertension
3113	HLA-DPA1	HP:0000979	Purpura
3113	HLA-DPA1	HP:0000988	Skin rash
3113	HLA-DPA1	HP:0011675	Arrhythmia
3113	HLA-DPA1	HP:0002829	Arthralgia
3113	HLA-DPA1	HP:0000246	Sinusitis
3113	HLA-DPA1	HP:0006510	Chronic pulmonary obstruction
3113	HLA-DPA1	HP:0012378	Fatigue
3113	HLA-DPA1	HP:0000389	Chronic otitis media
3113	HLA-DPA1	HP:0000388	Otitis media
3113	HLA-DPA1	HP:0005214	Intestinal obstruction
3113	HLA-DPA1	HP:0006535	Recurrent intrapulmonary hemorrhage
3113	HLA-DPA1	HP:0000366	Abnormality of the nose
3113	HLA-DPA1	HP:0001681	Angina pectoris
3113	HLA-DPA1	HP:0002960	Autoimmunity
3113	HLA-DPA1	HP:0002955	Granulomatosis
3113	HLA-DPA1	HP:0000407	Sensorineural hearing impairment
3113	HLA-DPA1	HP:0001733	Pancreatitis
3113	HLA-DPA1	HP:0001701	Pericarditis
3113	HLA-DPA1	HP:0000488	Retinopathy
3113	HLA-DPA1	HP:0000421	Epistaxis
3113	HLA-DPA1	HP:0000520	Proptosis
3113	HLA-DPA1	HP:0001824	Weight loss
3113	HLA-DPA1	HP:0000505	Visual impairment
3113	HLA-DPA1	HP:0011227	Elevated circulating C-reactive protein concentration
3115	HLA-DPB1	HP:0025179	Ground-glass opacification
3115	HLA-DPB1	HP:0100820	Glomerulopathy
3115	HLA-DPB1	HP:0001287	Meningitis
3115	HLA-DPB1	HP:0001250	Seizure
3115	HLA-DPB1	HP:0000083	Renal insufficiency
3115	HLA-DPB1	HP:0000093	Proteinuria
3115	HLA-DPB1	HP:0000071	Ureteral stenosis
3115	HLA-DPB1	HP:0000024	Prostatitis
3115	HLA-DPB1	HP:0025393	Reticulonodular pattern on pulmonary HRCT
3115	HLA-DPB1	HP:0002637	Cerebral ischemia
3115	HLA-DPB1	HP:0002633	Vasculitis
3115	HLA-DPB1	HP:0000163	Abnormal oral cavity morphology
3115	HLA-DPB1	HP:0025439	Pharyngitis
3115	HLA-DPB1	HP:0002795	Abnormal respiratory system physiology
3115	HLA-DPB1	HP:0000126	Hydronephrosis
3115	HLA-DPB1	HP:0002017	Nausea and vomiting
3115	HLA-DPB1	HP:0002027	Abdominal pain
3115	HLA-DPB1	HP:0003326	Myalgia
3115	HLA-DPB1	HP:0100533	Inflammatory abnormality of the eye
3115	HLA-DPB1	HP:0100539	Periorbital edema
3115	HLA-DPB1	HP:0002094	Dyspnea
3115	HLA-DPB1	HP:0002093	Respiratory insufficiency
3115	HLA-DPB1	HP:0002091	Restrictive ventilatory defect
3115	HLA-DPB1	HP:0002102	Pleuritis
3115	HLA-DPB1	HP:0002113	Pulmonary infiltrates
3115	HLA-DPB1	HP:0002105	Hemoptysis
3115	HLA-DPB1	HP:0002239	Gastrointestinal hemorrhage
3115	HLA-DPB1	HP:0003565	Elevated erythrocyte sedimentation rate
3115	HLA-DPB1	HP:0002205	Recurrent respiratory infections
3115	HLA-DPB1	HP:0002206	Pulmonary fibrosis
3115	HLA-DPB1	HP:0100721	Mediastinal lymphadenopathy
3115	HLA-DPB1	HP:0100749	Chest pain
3115	HLA-DPB1	HP:0100758	Gangrene
3115	HLA-DPB1	HP:0002315	Headache
3115	HLA-DPB1	HP:0200034	Papule
3115	HLA-DPB1	HP:0009830	Peripheral neuropathy
3115	HLA-DPB1	HP:0200042	Skin ulcer
3115	HLA-DPB1	HP:0002301	Hemiplegia
3115	HLA-DPB1	HP:0004936	Venous thrombosis
3115	HLA-DPB1	HP:0006824	Cranial nerve paralysis
3115	HLA-DPB1	HP:0001945	Fever
3115	HLA-DPB1	HP:0012649	Increased inflammatory response
3115	HLA-DPB1	HP:0005607	Abnormal tracheobronchial morphology
3115	HLA-DPB1	HP:0012735	Cough
3115	HLA-DPB1	HP:0000763	Sensory neuropathy
3115	HLA-DPB1	HP:0000790	Hematuria
3115	HLA-DPB1	HP:0000873	Diabetes insipidus
3115	HLA-DPB1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
3115	HLA-DPB1	HP:0100326	Immunologic hypersensitivity
3115	HLA-DPB1	HP:0000822	Hypertension
3115	HLA-DPB1	HP:0030878	Abnormality on pulmonary function testing
3115	HLA-DPB1	HP:0030877	Reduced FEV1/FVC ratio
3115	HLA-DPB1	HP:0000979	Purpura
3115	HLA-DPB1	HP:0000988	Skin rash
3115	HLA-DPB1	HP:0011675	Arrhythmia
3115	HLA-DPB1	HP:0031392	Abnormal proportion of CD4-positive T cells
3115	HLA-DPB1	HP:0002829	Arthralgia
3115	HLA-DPB1	HP:0000246	Sinusitis
3115	HLA-DPB1	HP:0006510	Chronic pulmonary obstruction
3115	HLA-DPB1	HP:0012378	Fatigue
3115	HLA-DPB1	HP:0000389	Chronic otitis media
3115	HLA-DPB1	HP:0000388	Otitis media
3115	HLA-DPB1	HP:0005214	Intestinal obstruction
3115	HLA-DPB1	HP:0006527	Lymphocytic interstitial pneumonia
3115	HLA-DPB1	HP:0006535	Recurrent intrapulmonary hemorrhage
3115	HLA-DPB1	HP:0006516	Hypersensitivity pneumonitis
3115	HLA-DPB1	HP:0000366	Abnormality of the nose
3115	HLA-DPB1	HP:0001681	Angina pectoris
3115	HLA-DPB1	HP:0002960	Autoimmunity
3115	HLA-DPB1	HP:0002955	Granulomatosis
3115	HLA-DPB1	HP:0000407	Sensorineural hearing impairment
3115	HLA-DPB1	HP:0001733	Pancreatitis
3115	HLA-DPB1	HP:0001701	Pericarditis
3115	HLA-DPB1	HP:0000488	Retinopathy
3115	HLA-DPB1	HP:0011121	Abnormality of skin morphology
3115	HLA-DPB1	HP:0000421	Epistaxis
3115	HLA-DPB1	HP:0000520	Proptosis
3115	HLA-DPB1	HP:0001824	Weight loss
3115	HLA-DPB1	HP:0000505	Visual impairment
3115	HLA-DPB1	HP:0011227	Elevated circulating C-reactive protein concentration
3117	HLA-DQA1	HP:0001271	Polyneuropathy
3117	HLA-DQA1	HP:0001250	Seizure
3117	HLA-DQA1	HP:0001251	Ataxia
3117	HLA-DQA1	HP:0002570	Steatorrhea
3117	HLA-DQA1	HP:0031085	Decreased prealbumin level
3117	HLA-DQA1	HP:0002514	Cerebral calcification
3117	HLA-DQA1	HP:0008897	Postnatal growth retardation
3117	HLA-DQA1	HP:0000007	Autosomal recessive inheritance
3117	HLA-DQA1	HP:0002665	Lymphoma
3117	HLA-DQA1	HP:0002608	Celiac disease
3117	HLA-DQA1	HP:0006297	Enamel hypoplasia
3117	HLA-DQA1	HP:0001426	Multifactorial inheritance
3117	HLA-DQA1	HP:0002748	Rickets
3117	HLA-DQA1	HP:0002720	Decreased circulating IgA level
3117	HLA-DQA1	HP:0002020	Gastroesophageal reflux
3117	HLA-DQA1	HP:0002027	Abdominal pain
3117	HLA-DQA1	HP:0002014	Diarrhea
3117	HLA-DQA1	HP:0002015	Dysphagia
3117	HLA-DQA1	HP:0002013	Vomiting
3117	HLA-DQA1	HP:0100502	Vitamin B12 deficiency
3117	HLA-DQA1	HP:0100507	Reduced blood folate concentration
3117	HLA-DQA1	HP:0100512	Low levels of vitamin D
3117	HLA-DQA1	HP:0008151	Prolonged prothrombin time
3117	HLA-DQA1	HP:0002100	Recurrent aspiration pneumonia
3117	HLA-DQA1	HP:0011892	Low levels of vitamin K
3117	HLA-DQA1	HP:0100749	Chest pain
3117	HLA-DQA1	HP:0003645	Prolonged partial thromboplastin time
3117	HLA-DQA1	HP:0100651	Type I diabetes mellitus
3117	HLA-DQA1	HP:0100646	Thyroiditis
3117	HLA-DQA1	HP:0004298	Abnormality of the abdominal wall
3117	HLA-DQA1	HP:0001972	Macrocytic anemia
3117	HLA-DQA1	HP:0004322	Short stature
3117	HLA-DQA1	HP:0004395	Malnutrition
3117	HLA-DQA1	HP:0012735	Cough
3117	HLA-DQA1	HP:0000739	Anxiety
3117	HLA-DQA1	HP:0000716	Depression
3117	HLA-DQA1	HP:0000789	Infertility
3117	HLA-DQA1	HP:0000823	Delayed puberty
3117	HLA-DQA1	HP:0010280	Stomatitis
3117	HLA-DQA1	HP:0003270	Abdominal distention
3117	HLA-DQA1	HP:0030828	Wheezing
3117	HLA-DQA1	HP:0003256	Abnormality of the coagulation cascade
3117	HLA-DQA1	HP:0000964	Eczema
3117	HLA-DQA1	HP:0000939	Osteoporosis
3117	HLA-DQA1	HP:0001596	Alopecia
3117	HLA-DQA1	HP:0002829	Arthralgia
3117	HLA-DQA1	HP:0001508	Failure to thrive
3117	HLA-DQA1	HP:0012387	Bronchitis
3117	HLA-DQA1	HP:0002910	Elevated hepatic transaminase
3117	HLA-DQA1	HP:0002901	Hypocalcemia
3117	HLA-DQA1	HP:0011107	Recurrent aphthous stomatitis
3117	HLA-DQA1	HP:0001824	Weight loss
3117	HLA-DQA1	HP:0001891	Iron deficiency anemia
3117	HLA-DQA1	HP:0001894	Thrombocytosis
3119	HLA-DQB1	HP:0002494	Abnormal rapid eye movement sleep
3119	HLA-DQB1	HP:0003765	Psoriasiform dermatitis
3119	HLA-DQB1	HP:0007305	CNS demyelination
3119	HLA-DQB1	HP:0001271	Polyneuropathy
3119	HLA-DQB1	HP:0001269	Hemiparesis
3119	HLA-DQB1	HP:0001289	Confusion
3119	HLA-DQB1	HP:0001279	Syncope
3119	HLA-DQB1	HP:0001250	Seizure
3119	HLA-DQB1	HP:0001251	Ataxia
3119	HLA-DQB1	HP:0001262	Excessive daytime somnolence
3119	HLA-DQB1	HP:0001257	Spasticity
3119	HLA-DQB1	HP:0002570	Steatorrhea
3119	HLA-DQB1	HP:0031085	Decreased prealbumin level
3119	HLA-DQB1	HP:0002514	Cerebral calcification
3119	HLA-DQB1	HP:0002524	Cataplexy
3119	HLA-DQB1	HP:0000020	Urinary incontinence
3119	HLA-DQB1	HP:0001350	Slurred speech
3119	HLA-DQB1	HP:0000019	Urinary hesitancy
3119	HLA-DQB1	HP:0008897	Postnatal growth retardation
3119	HLA-DQB1	HP:0001324	Muscle weakness
3119	HLA-DQB1	HP:0000007	Autosomal recessive inheritance
3119	HLA-DQB1	HP:0002665	Lymphoma
3119	HLA-DQB1	HP:0000006	Autosomal dominant inheritance
3119	HLA-DQB1	HP:0001336	Myoclonus
3119	HLA-DQB1	HP:0001317	Abnormal cerebellum morphology
3119	HLA-DQB1	HP:0002608	Celiac disease
3119	HLA-DQB1	HP:0006297	Enamel hypoplasia
3119	HLA-DQB1	HP:0001426	Multifactorial inheritance
3119	HLA-DQB1	HP:0002748	Rickets
3119	HLA-DQB1	HP:0002719	Recurrent infections
3119	HLA-DQB1	HP:0002720	Decreased circulating IgA level
3119	HLA-DQB1	HP:0002020	Gastroesophageal reflux
3119	HLA-DQB1	HP:0002027	Abdominal pain
3119	HLA-DQB1	HP:0002014	Diarrhea
3119	HLA-DQB1	HP:0002015	Dysphagia
3119	HLA-DQB1	HP:0002013	Vomiting
3119	HLA-DQB1	HP:0002066	Gait ataxia
3119	HLA-DQB1	HP:0100502	Vitamin B12 deficiency
3119	HLA-DQB1	HP:0100507	Reduced blood folate concentration
3119	HLA-DQB1	HP:0100512	Low levels of vitamin D
3119	HLA-DQB1	HP:0008151	Prolonged prothrombin time
3119	HLA-DQB1	HP:0002100	Recurrent aspiration pneumonia
3119	HLA-DQB1	HP:0011892	Low levels of vitamin K
3119	HLA-DQB1	HP:0010534	Transient global amnesia
3119	HLA-DQB1	HP:0003401	Paresthesia
3119	HLA-DQB1	HP:0003596	Middle age onset
3119	HLA-DQB1	HP:0003581	Adult onset
3119	HLA-DQB1	HP:0100785	Insomnia
3119	HLA-DQB1	HP:0100749	Chest pain
3119	HLA-DQB1	HP:0007076	Extrapyramidal muscular rigidity
3119	HLA-DQB1	HP:0002381	Aphasia
3119	HLA-DQB1	HP:0002360	Sleep disturbance
3119	HLA-DQB1	HP:0001025	Urticaria
3119	HLA-DQB1	HP:0002354	Memory impairment
3119	HLA-DQB1	HP:0003678	Rapidly progressive
3119	HLA-DQB1	HP:0003645	Prolonged partial thromboplastin time
3119	HLA-DQB1	HP:0100651	Type I diabetes mellitus
3119	HLA-DQB1	HP:0100646	Thyroiditis
3119	HLA-DQB1	HP:0010783	Erythema
3119	HLA-DQB1	HP:0002311	Incoordination
3119	HLA-DQB1	HP:0004298	Abnormality of the abdominal wall
3119	HLA-DQB1	HP:0000651	Diplopia
3119	HLA-DQB1	HP:0001972	Macrocytic anemia
3119	HLA-DQB1	HP:0000605	Supranuclear gaze palsy
3119	HLA-DQB1	HP:0004322	Short stature
3119	HLA-DQB1	HP:0004395	Malnutrition
3119	HLA-DQB1	HP:0000751	Personality changes
3119	HLA-DQB1	HP:0012735	Cough
3119	HLA-DQB1	HP:0012733	Macule
3119	HLA-DQB1	HP:0000738	Hallucinations
3119	HLA-DQB1	HP:0000737	Irritability
3119	HLA-DQB1	HP:0000739	Anxiety
3119	HLA-DQB1	HP:0000746	Delusions
3119	HLA-DQB1	HP:0000741	Apathy
3119	HLA-DQB1	HP:0000716	Depression
3119	HLA-DQB1	HP:0000712	Emotional lability
3119	HLA-DQB1	HP:0000726	Dementia
3119	HLA-DQB1	HP:0000708	Atypical behavior
3119	HLA-DQB1	HP:0000789	Infertility
3119	HLA-DQB1	HP:0000819	Diabetes mellitus
3119	HLA-DQB1	HP:0000823	Delayed puberty
3119	HLA-DQB1	HP:0010280	Stomatitis
3119	HLA-DQB1	HP:0003270	Abdominal distention
3119	HLA-DQB1	HP:0030828	Wheezing
3119	HLA-DQB1	HP:0003256	Abnormality of the coagulation cascade
3119	HLA-DQB1	HP:0000964	Eczema
3119	HLA-DQB1	HP:0000939	Osteoporosis
3119	HLA-DQB1	HP:0008066	Abnormal blistering of the skin
3119	HLA-DQB1	HP:0001596	Alopecia
3119	HLA-DQB1	HP:0002829	Arthralgia
3119	HLA-DQB1	HP:0001508	Failure to thrive
3119	HLA-DQB1	HP:0001513	Obesity
3119	HLA-DQB1	HP:0012387	Bronchitis
3119	HLA-DQB1	HP:0002910	Elevated hepatic transaminase
3119	HLA-DQB1	HP:0002922	Increased CSF protein concentration
3119	HLA-DQB1	HP:0002901	Hypocalcemia
3119	HLA-DQB1	HP:0002960	Autoimmunity
3119	HLA-DQB1	HP:0005327	Loss of facial expression
3119	HLA-DQB1	HP:0000478	Abnormality of the eye
3119	HLA-DQB1	HP:0011107	Recurrent aphthous stomatitis
3119	HLA-DQB1	HP:0001824	Weight loss
3119	HLA-DQB1	HP:0000505	Visual impairment
3119	HLA-DQB1	HP:0000504	Abnormality of vision
3119	HLA-DQB1	HP:0001891	Iron deficiency anemia
3119	HLA-DQB1	HP:0001894	Thrombocytosis
3122	HLA-DRA	HP:0007468	Perifollicular hyperkeratosis
3122	HLA-DRA	HP:0002215	Sparse axillary hair
3122	HLA-DRA	HP:0002225	Sparse pubic hair
3122	HLA-DRA	HP:0002209	Sparse scalp hair
3122	HLA-DRA	HP:0100725	Lichenification
3122	HLA-DRA	HP:0000989	Pruritus
3122	HLA-DRA	HP:0001596	Alopecia
3123	HLA-DRB1	HP:0002494	Abnormal rapid eye movement sleep
3123	HLA-DRB1	HP:0100958	Narrow foramen obturatorium
3123	HLA-DRB1	HP:0001138	Optic neuropathy
3123	HLA-DRB1	HP:0003765	Psoriasiform dermatitis
3123	HLA-DRB1	HP:0001123	Visual field defect
3123	HLA-DRB1	HP:0007305	CNS demyelination
3123	HLA-DRB1	HP:0009926	Epiphora
3123	HLA-DRB1	HP:0010876	Abnormal circulating protein concentration
3123	HLA-DRB1	HP:0003745	Sporadic
3123	HLA-DRB1	HP:0003701	Proximal muscle weakness
3123	HLA-DRB1	HP:0100828	Increased T cell count
3123	HLA-DRB1	HP:0001287	Meningitis
3123	HLA-DRB1	HP:0001279	Syncope
3123	HLA-DRB1	HP:0002585	Abnormality of the peritoneum
3123	HLA-DRB1	HP:0001251	Ataxia
3123	HLA-DRB1	HP:0001262	Excessive daytime somnolence
3123	HLA-DRB1	HP:0001257	Spasticity
3123	HLA-DRB1	HP:0001217	Clubbing
3123	HLA-DRB1	HP:0002524	Cataplexy
3123	HLA-DRB1	HP:0000083	Renal insufficiency
3123	HLA-DRB1	HP:0012062	Bone cyst
3123	HLA-DRB1	HP:0001399	Hepatic failure
3123	HLA-DRB1	HP:0001371	Flexion contracture
3123	HLA-DRB1	HP:0001369	Arthritis
3123	HLA-DRB1	HP:0001386	Joint swelling
3123	HLA-DRB1	HP:0001387	Joint stiffness
3123	HLA-DRB1	HP:0000020	Urinary incontinence
3123	HLA-DRB1	HP:0001350	Slurred speech
3123	HLA-DRB1	HP:0000019	Urinary hesitancy
3123	HLA-DRB1	HP:0025391	Crazy paving pattern
3123	HLA-DRB1	HP:0001324	Muscle weakness
3123	HLA-DRB1	HP:0002665	Lymphoma
3123	HLA-DRB1	HP:0000006	Autosomal dominant inheritance
3123	HLA-DRB1	HP:0002637	Cerebral ischemia
3123	HLA-DRB1	HP:0002633	Vasculitis
3123	HLA-DRB1	HP:0002647	Aortic dissection
3123	HLA-DRB1	HP:0025435	Increased circulating lactate dehydrogenase concentration
3123	HLA-DRB1	HP:0002797	Osteolysis
3123	HLA-DRB1	HP:0001482	Subcutaneous nodule
3123	HLA-DRB1	HP:0012122	Anterior uveitis
3123	HLA-DRB1	HP:0008940	Generalized lymphadenopathy
3123	HLA-DRB1	HP:0000121	Nephrocalcinosis
3123	HLA-DRB1	HP:0002781	Upper airway obstruction
3123	HLA-DRB1	HP:0001426	Multifactorial inheritance
3123	HLA-DRB1	HP:0001410	Decreased liver function
3123	HLA-DRB1	HP:0001409	Portal hypertension
3123	HLA-DRB1	HP:0002733	Abnormal lymph node morphology
3123	HLA-DRB1	HP:0002719	Recurrent infections
3123	HLA-DRB1	HP:0002716	Lymphadenopathy
3123	HLA-DRB1	HP:0002024	Malabsorption
3123	HLA-DRB1	HP:0002020	Gastroesophageal reflux
3123	HLA-DRB1	HP:0002017	Nausea and vomiting
3123	HLA-DRB1	HP:0002037	Inflammation of the large intestine
3123	HLA-DRB1	HP:0002027	Abdominal pain
3123	HLA-DRB1	HP:0003326	Myalgia
3123	HLA-DRB1	HP:0002015	Dysphagia
3123	HLA-DRB1	HP:0011801	Enlargement of parotid gland
3123	HLA-DRB1	HP:0002087	Abnormality of the upper respiratory tract
3123	HLA-DRB1	HP:0002088	Abnormal lung morphology
3123	HLA-DRB1	HP:0002097	Emphysema
3123	HLA-DRB1	HP:0002094	Dyspnea
3123	HLA-DRB1	HP:0002092	Pulmonary arterial hypertension
3123	HLA-DRB1	HP:0002091	Restrictive ventilatory defect
3123	HLA-DRB1	HP:0002045	Hypothermia
3123	HLA-DRB1	HP:0002039	Anorexia
3123	HLA-DRB1	HP:0100520	Oliguria
3123	HLA-DRB1	HP:0100585	Telangiectasia of the skin
3123	HLA-DRB1	HP:0100579	Mucosal telangiectasiae
3123	HLA-DRB1	HP:0100576	Amaurosis fugax
3123	HLA-DRB1	HP:0009473	Joint contracture of the hand
3123	HLA-DRB1	HP:0002150	Hypercalciuria
3123	HLA-DRB1	HP:0002103	Abnormal pleura morphology
3123	HLA-DRB1	HP:0004756	Ventricular tachycardia
3123	HLA-DRB1	HP:0002113	Pulmonary infiltrates
3123	HLA-DRB1	HP:0002110	Bronchiectasis
3123	HLA-DRB1	HP:0002107	Pneumothorax
3123	HLA-DRB1	HP:0002105	Hemoptysis
3123	HLA-DRB1	HP:0010534	Transient global amnesia
3123	HLA-DRB1	HP:0011850	Parotitis
3123	HLA-DRB1	HP:0011840	Abnormality of T cell physiology
3123	HLA-DRB1	HP:0003401	Paresthesia
3123	HLA-DRB1	HP:0002240	Hepatomegaly
3123	HLA-DRB1	HP:0003581	Adult onset
3123	HLA-DRB1	HP:0003565	Elevated erythrocyte sedimentation rate
3123	HLA-DRB1	HP:0002202	Pleural effusion
3123	HLA-DRB1	HP:0002206	Pulmonary fibrosis
3123	HLA-DRB1	HP:0100776	Recurrent pharyngitis
3123	HLA-DRB1	HP:0010702	Increased circulating antibody level
3123	HLA-DRB1	HP:0100785	Insomnia
3123	HLA-DRB1	HP:0100721	Mediastinal lymphadenopathy
3123	HLA-DRB1	HP:0100735	Hypertensive crisis
3123	HLA-DRB1	HP:0100749	Chest pain
3123	HLA-DRB1	HP:0100758	Gangrene
3123	HLA-DRB1	HP:0008366	Foot joint contracture
3123	HLA-DRB1	HP:0010628	Facial palsy
3123	HLA-DRB1	HP:0001053	Hypopigmented skin patches
3123	HLA-DRB1	HP:0002360	Sleep disturbance
3123	HLA-DRB1	HP:0001010	Hypopigmentation of the skin
3123	HLA-DRB1	HP:0001004	Lymphedema
3123	HLA-DRB1	HP:0001025	Urticaria
3123	HLA-DRB1	HP:0003651	Foam cells
3123	HLA-DRB1	HP:0002321	Vertigo
3123	HLA-DRB1	HP:0002315	Headache
3123	HLA-DRB1	HP:0001000	Abnormality of skin pigmentation
3123	HLA-DRB1	HP:0200036	Skin nodule
3123	HLA-DRB1	HP:0200035	Skin plaque
3123	HLA-DRB1	HP:0009830	Peripheral neuropathy
3123	HLA-DRB1	HP:0001097	Keratoconjunctivitis sicca
3123	HLA-DRB1	HP:0001094	Iridocyclitis
3123	HLA-DRB1	HP:0200042	Skin ulcer
3123	HLA-DRB1	HP:0010783	Erythema
3123	HLA-DRB1	HP:0100699	Scarring
3123	HLA-DRB1	HP:0002311	Incoordination
3123	HLA-DRB1	HP:0001970	Tubulointerstitial nephritis
3123	HLA-DRB1	HP:0000639	Nystagmus
3123	HLA-DRB1	HP:0000651	Diplopia
3123	HLA-DRB1	HP:0000648	Optic atrophy
3123	HLA-DRB1	HP:0000618	Blindness
3123	HLA-DRB1	HP:0000613	Photophobia
3123	HLA-DRB1	HP:0001945	Fever
3123	HLA-DRB1	HP:0000620	Dacryocystitis
3123	HLA-DRB1	HP:0000622	Blurred vision
3123	HLA-DRB1	HP:0001903	Anemia
3123	HLA-DRB1	HP:0000670	Carious teeth
3123	HLA-DRB1	HP:0003072	Hypercalcemia
3123	HLA-DRB1	HP:0003011	Abnormality of the musculature
3123	HLA-DRB1	HP:0005681	Juvenile rheumatoid arthritis
3123	HLA-DRB1	HP:0012735	Cough
3123	HLA-DRB1	HP:0012733	Macule
3123	HLA-DRB1	HP:0012722	Heart block
3123	HLA-DRB1	HP:0000738	Hallucinations
3123	HLA-DRB1	HP:0000716	Depression
3123	HLA-DRB1	HP:0000712	Emotional lability
3123	HLA-DRB1	HP:0000708	Atypical behavior
3123	HLA-DRB1	HP:0000790	Hematuria
3123	HLA-DRB1	HP:0000787	Nephrolithiasis
3123	HLA-DRB1	HP:0004420	Arterial thrombosis
3123	HLA-DRB1	HP:0000873	Diabetes insipidus
3123	HLA-DRB1	HP:0000836	Hyperthyroidism
3123	HLA-DRB1	HP:0000834	Abnormality of the adrenal glands
3123	HLA-DRB1	HP:0000819	Diabetes mellitus
3123	HLA-DRB1	HP:0000821	Hypothyroidism
3123	HLA-DRB1	HP:0010286	Abnormal salivary gland morphology
3123	HLA-DRB1	HP:0030872	Abnormal cardiac ventricular function
3123	HLA-DRB1	HP:0045051	Decreased DLCO
3123	HLA-DRB1	HP:0030830	Crackles
3123	HLA-DRB1	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
3123	HLA-DRB1	HP:0010310	Chylothorax
3123	HLA-DRB1	HP:0000975	Hyperhidrosis
3123	HLA-DRB1	HP:0000988	Skin rash
3123	HLA-DRB1	HP:0000953	Hyperpigmentation of the skin
3123	HLA-DRB1	HP:0000951	Abnormality of the skin
3123	HLA-DRB1	HP:0000964	Eczema
3123	HLA-DRB1	HP:0000961	Cyanosis
3123	HLA-DRB1	HP:0008066	Abnormal blistering of the skin
3123	HLA-DRB1	HP:0040186	Maculopapular exanthema
3123	HLA-DRB1	HP:0011675	Arrhythmia
3123	HLA-DRB1	HP:0001596	Alopecia
3123	HLA-DRB1	HP:0012243	Abnormal reproductive system morphology
3123	HLA-DRB1	HP:0005112	Abdominal aortic aneurysm
3123	HLA-DRB1	HP:0007734	Enlarged lacrimal glands
3123	HLA-DRB1	HP:0030057	Autoimmune antibody positivity
3123	HLA-DRB1	HP:0002829	Arthralgia
3123	HLA-DRB1	HP:0012219	Erythema nodosum
3123	HLA-DRB1	HP:0000217	Xerostomia
3123	HLA-DRB1	HP:0030016	Dyspareunia
3123	HLA-DRB1	HP:0000206	Glossitis
3123	HLA-DRB1	HP:0001513	Obesity
3123	HLA-DRB1	HP:0012378	Fatigue
3123	HLA-DRB1	HP:0005244	Gastrointestinal infarctions
3123	HLA-DRB1	HP:0005216	Impaired mastication
3123	HLA-DRB1	HP:0006530	Abnormal pulmonary interstitial morphology
3123	HLA-DRB1	HP:0006517	Intraalveolar phospholipid accumulation
3123	HLA-DRB1	HP:0002922	Increased CSF protein concentration
3123	HLA-DRB1	HP:0002921	Abnormal cerebrospinal fluid morphology
3123	HLA-DRB1	HP:0000365	Hearing impairment
3123	HLA-DRB1	HP:0011024	Abnormality of the gastrointestinal tract
3123	HLA-DRB1	HP:0001698	Pericardial effusion
3123	HLA-DRB1	HP:0030142	Abnormal bowel sounds
3123	HLA-DRB1	HP:0001645	Sudden cardiac death
3123	HLA-DRB1	HP:0030146	Abnormal liver parenchyma morphology
3123	HLA-DRB1	HP:0002960	Autoimmunity
3123	HLA-DRB1	HP:0030166	Night sweats
3123	HLA-DRB1	HP:0001635	Congestive heart failure
3123	HLA-DRB1	HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion
3123	HLA-DRB1	HP:0000405	Conductive hearing impairment
3123	HLA-DRB1	HP:0001701	Pericarditis
3123	HLA-DRB1	HP:0000478	Abnormality of the eye
3123	HLA-DRB1	HP:0011121	Abnormality of skin morphology
3123	HLA-DRB1	HP:0012424	Chorioretinitis
3123	HLA-DRB1	HP:0000433	Abnormal nasal mucosa morphology
3123	HLA-DRB1	HP:0012418	Hypoxemia
3123	HLA-DRB1	HP:0001744	Splenomegaly
3123	HLA-DRB1	HP:0000421	Epistaxis
3123	HLA-DRB1	HP:0000518	Cataract
3123	HLA-DRB1	HP:0001824	Weight loss
3123	HLA-DRB1	HP:0000508	Ptosis
3123	HLA-DRB1	HP:0000502	Abnormal conjunctiva morphology
3123	HLA-DRB1	HP:0000505	Visual impairment
3123	HLA-DRB1	HP:0000504	Abnormality of vision
3123	HLA-DRB1	HP:0000501	Glaucoma
3123	HLA-DRB1	HP:0000597	Ophthalmoparesis
3123	HLA-DRB1	HP:0011227	Elevated circulating C-reactive protein concentration
3123	HLA-DRB1	HP:0000554	Uveitis
3123	HLA-DRB1	HP:0000572	Visual loss
3123	HLA-DRB1	HP:0001872	Abnormality of thrombocytes
3123	HLA-DRB1	HP:0001880	Eosinophilia
3123	HLA-DRB1	HP:0001882	Leukopenia
3123	HLA-DRB1	HP:0001878	Hemolytic anemia
3123	HLA-DRB1	HP:0001873	Thrombocytopenia
3123	HLA-DRB1	HP:0001876	Pancytopenia
3135	HLA-G	HP:0000006	Autosomal dominant inheritance
3135	HLA-G	HP:0001426	Multifactorial inheritance
3135	HLA-G	HP:0002099	Asthma
3135	HLA-G	HP:4000007	Bronchoconstriction
3135	HLA-G	HP:0032933	Airway hyperresponsiveness
3141	HLCS	HP:0033596	Elevated urinary 3-methylcrotonylglycine level
3141	HLCS	HP:0001290	Generalized hypotonia
3141	HLCS	HP:0001276	Hypertonia
3141	HLCS	HP:0001254	Lethargy
3141	HLCS	HP:0001250	Seizure
3141	HLCS	HP:0001252	Hypotonia
3141	HLCS	HP:0001251	Ataxia
3141	HLCS	HP:0001263	Global developmental delay
3141	HLCS	HP:0001259	Coma
3141	HLCS	HP:0007549	Desquamation of skin soon after birth
3141	HLCS	HP:0008872	Feeding difficulties in infancy
3141	HLCS	HP:0000007	Autosomal recessive inheritance
3141	HLCS	HP:0002789	Tachypnea
3141	HLCS	HP:0002017	Nausea and vomiting
3141	HLCS	HP:0002013	Vomiting
3141	HLCS	HP:0002098	Respiratory distress
3141	HLCS	HP:0002039	Anorexia
3141	HLCS	HP:0033111	3-hydroxyisovaleric aciduria
3141	HLCS	HP:0001096	Keratoconjunctivitis
3141	HLCS	HP:0003623	Neonatal onset
3141	HLCS	HP:0001942	Metabolic acidosis
3141	HLCS	HP:0001992	Organic aciduria
3141	HLCS	HP:0001987	Hyperammonemia
3141	HLCS	HP:0000737	Irritability
3141	HLCS	HP:0003128	Lactic acidosis
3141	HLCS	HP:0000988	Skin rash
3141	HLCS	HP:0000964	Eczema
3141	HLCS	HP:0001596	Alopecia
3141	HLCS	HP:0002883	Hyperventilation
3141	HLCS	HP:0001510	Growth delay
3141	HLCS	HP:0011127	Perioral eczema
3141	HLCS	HP:0001824	Weight loss
3141	HLCS	HP:0001873	Thrombocytopenia
3145	HMBS	HP:0002460	Distal muscle weakness
3145	HMBS	HP:0001268	Mental deterioration
3145	HMBS	HP:0001289	Confusion
3145	HMBS	HP:0001250	Seizure
3145	HMBS	HP:0002595	Ileus
3145	HMBS	HP:0001262	Excessive daytime somnolence
3145	HMBS	HP:0002590	Paralytic ileus
3145	HMBS	HP:0001259	Coma
3145	HMBS	HP:0410263	Brain imaging abnormality
3145	HMBS	HP:0000083	Renal insufficiency
3145	HMBS	HP:0000020	Urinary incontinence
3145	HMBS	HP:0000016	Urinary retention
3145	HMBS	HP:0001324	Muscle weakness
3145	HMBS	HP:0001337	Tremor
3145	HMBS	HP:0000006	Autosomal dominant inheritance
3145	HMBS	HP:0008994	Proximal muscle weakness in lower limbs
3145	HMBS	HP:0008997	Proximal muscle weakness in upper limbs
3145	HMBS	HP:0001402	Hepatocellular carcinoma
3145	HMBS	HP:0002018	Nausea
3145	HMBS	HP:0002019	Constipation
3145	HMBS	HP:0002017	Nausea and vomiting
3145	HMBS	HP:0002027	Abdominal pain
3145	HMBS	HP:0040319	Dark urine
3145	HMBS	HP:0002014	Diarrhea
3145	HMBS	HP:0002013	Vomiting
3145	HMBS	HP:0002093	Respiratory insufficiency
3145	HMBS	HP:0100518	Dysuria
3145	HMBS	HP:0010473	Porphyrinuria
3145	HMBS	HP:0003474	Somatic sensory dysfunction
3145	HMBS	HP:0003470	Paralysis
3145	HMBS	HP:0003489	Acute episodes of neuropathic symptoms
3145	HMBS	HP:0003418	Back pain
3145	HMBS	HP:0003401	Paresthesia
3145	HMBS	HP:0002203	Respiratory paralysis
3145	HMBS	HP:0100785	Insomnia
3145	HMBS	HP:0011999	Paranoia
3145	HMBS	HP:0007024	Pseudobulbar paralysis
3145	HMBS	HP:0007002	Motor axonal neuropathy
3145	HMBS	HP:0002354	Memory impairment
3145	HMBS	HP:0009830	Peripheral neuropathy
3145	HMBS	HP:0009763	Limb pain
3145	HMBS	HP:0007178	Motor polyneuropathy
3145	HMBS	HP:0006824	Cranial nerve paralysis
3145	HMBS	HP:0001945	Fever
3145	HMBS	HP:0004347	Weakness of muscles of respiration
3145	HMBS	HP:0000738	Hallucinations
3145	HMBS	HP:0000739	Anxiety
3145	HMBS	HP:0000716	Depression
3145	HMBS	HP:0000711	Restlessness
3145	HMBS	HP:0000725	Psychotic episodes
3145	HMBS	HP:0003163	Elevated urinary delta-aminolevulinic acid
3145	HMBS	HP:0000822	Hypertension
3145	HMBS	HP:0003270	Abdominal distention
3145	HMBS	HP:0030833	Neck pain
3145	HMBS	HP:0000975	Hyperhidrosis
3145	HMBS	HP:0012217	Increased urinary porphobilinogen
3145	HMBS	HP:0012379	Abnormal circulating enzyme concentration or activity
3145	HMBS	HP:0002902	Hyponatremia
3145	HMBS	HP:0001649	Tachycardia
3145	HMBS	HP:0011121	Abnormality of skin morphology
3149	HMGB3	HP:0001249	Intellectual disability
3149	HMGB3	HP:0001263	Global developmental delay
3149	HMGB3	HP:0012043	Pendular nystagmus
3149	HMGB3	HP:0006304	Widely-spaced incisors
3149	HMGB3	HP:0002751	Kyphoscoliosis
3149	HMGB3	HP:0001417	X-linked inheritance
3149	HMGB3	HP:0003577	Congenital onset
3149	HMGB3	HP:0000612	Iris coloboma
3149	HMGB3	HP:0004322	Short stature
3149	HMGB3	HP:0040080	Anteverted ears
3149	HMGB3	HP:0000252	Microcephaly
3149	HMGB3	HP:0000482	Microcornea
3149	HMGB3	HP:0000508	Ptosis
3149	HMGB3	HP:0000568	Microphthalmia
3149	HMGB3	HP:0000565	Esotropia
3149	HMGB3	HP:0000567	Chorioretinal coloboma
3155	HMGCL	HP:0010864	Intellectual disability, severe
3155	HMGCL	HP:0001298	Encephalopathy
3155	HMGCL	HP:0001254	Lethargy
3155	HMGCL	HP:0001256	Intellectual disability, mild
3155	HMGCL	HP:0001250	Seizure
3155	HMGCL	HP:0001252	Hypotonia
3155	HMGCL	HP:0001251	Ataxia
3155	HMGCL	HP:0001265	Hyporeflexia
3155	HMGCL	HP:0001260	Dysarthria
3155	HMGCL	HP:0001263	Global developmental delay
3155	HMGCL	HP:0001262	Excessive daytime somnolence
3155	HMGCL	HP:0001257	Spasticity
3155	HMGCL	HP:0001259	Coma
3155	HMGCL	HP:0002572	Episodic vomiting
3155	HMGCL	HP:0002521	Hypsarrhythmia
3155	HMGCL	HP:0002500	Abnormal cerebral white matter morphology
3155	HMGCL	HP:0003819	Death in childhood
3155	HMGCL	HP:0001325	Hypoglycemic coma
3155	HMGCL	HP:0000007	Autosomal recessive inheritance
3155	HMGCL	HP:0001336	Myoclonus
3155	HMGCL	HP:0002615	Hypotension
3155	HMGCL	HP:0410066	Increased level of hippuric acid in urine
3155	HMGCL	HP:0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine
3155	HMGCL	HP:0002789	Tachypnea
3155	HMGCL	HP:0002014	Diarrhea
3155	HMGCL	HP:0003344	3-Methylglutaric aciduria
3155	HMGCL	HP:0002013	Vomiting
3155	HMGCL	HP:0002045	Hypothermia
3155	HMGCL	HP:0002039	Anorexia
3155	HMGCL	HP:0008151	Prolonged prothrombin time
3155	HMGCL	HP:0002151	Increased serum lactate
3155	HMGCL	HP:0002149	Hyperuricemia
3155	HMGCL	HP:0002104	Apnea
3155	HMGCL	HP:0002240	Hepatomegaly
3155	HMGCL	HP:0002342	Intellectual disability, moderate
3155	HMGCL	HP:0002353	EEG abnormality
3155	HMGCL	HP:0002352	Leukoencephalopathy
3155	HMGCL	HP:0032198	Decreased prothrombin time
3155	HMGCL	HP:0001974	Leukocytosis
3155	HMGCL	HP:0001944	Dehydration
3155	HMGCL	HP:0001943	Hypoglycemia
3155	HMGCL	HP:0001945	Fever
3155	HMGCL	HP:0001942	Metabolic acidosis
3155	HMGCL	HP:0001958	Nonketotic hypoglycemia
3155	HMGCL	HP:0001903	Anemia
3155	HMGCL	HP:0001992	Organic aciduria
3155	HMGCL	HP:0001988	Recurrent hypoglycemia
3155	HMGCL	HP:0001987	Hyperammonemia
3155	HMGCL	HP:0000741	Apathy
3155	HMGCL	HP:0003150	Glutaric aciduria
3155	HMGCL	HP:0003234	Decreased plasma carnitine
3155	HMGCL	HP:0000980	Pallor
3155	HMGCL	HP:0000952	Jaundice
3155	HMGCL	HP:0000969	Edema
3155	HMGCL	HP:0000252	Microcephaly
3155	HMGCL	HP:0011099	Spastic hemiparesis
3155	HMGCL	HP:0012378	Fatigue
3155	HMGCL	HP:0006582	Reye syndrome-like episodes
3155	HMGCL	HP:0006561	Lipid accumulation in hepatocytes
3155	HMGCL	HP:0002919	Ketonuria
3155	HMGCL	HP:0002910	Elevated hepatic transaminase
3155	HMGCL	HP:0001695	Cardiac arrest
3155	HMGCL	HP:0001644	Dilated cardiomyopathy
3155	HMGCL	HP:0001735	Acute pancreatitis
3155	HMGCL	HP:0001824	Weight loss
3155	HMGCL	HP:0001894	Thrombocytosis
3155	HMGCL	HP:0001882	Leukopenia
3158	HMGCS2	HP:0001250	Seizure
3158	HMGCS2	HP:0001325	Hypoglycemic coma
3158	HMGCS2	HP:0000007	Autosomal recessive inheritance
3158	HMGCS2	HP:0025435	Increased circulating lactate dehydrogenase concentration
3158	HMGCS2	HP:0002014	Diarrhea
3158	HMGCS2	HP:0002013	Vomiting
3158	HMGCS2	HP:0003593	Infantile onset
3158	HMGCS2	HP:0002240	Hepatomegaly
3158	HMGCS2	HP:0001943	Hypoglycemia
3158	HMGCS2	HP:0001939	Abnormality of metabolism/homeostasis
3158	HMGCS2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
3158	HMGCS2	HP:0031964	Elevated circulating alanine aminotransferase concentration
3159	HMGA1	HP:0000006	Autosomal dominant inheritance
3159	HMGA1	HP:0005978	Type II diabetes mellitus
3159	HMGA1	HP:0003584	Late onset
3159	HMGA1	HP:0031819	Increased waist to hip ratio
3159	HMGA1	HP:0000855	Insulin resistance
3161	HMMR	HP:0000006	Autosomal dominant inheritance
3161	HMMR	HP:0001428	Somatic mutation
3161	HMMR	HP:0003002	Breast carcinoma
3162	HMOX1	HP:0032261	Nontuberculous mycobacterial pulmonary infection
3162	HMOX1	HP:0100806	Sepsis
3162	HMOX1	HP:0001263	Global developmental delay
3162	HMOX1	HP:0002570	Steatorrhea
3162	HMOX1	HP:0025289	Cervical lymphadenopathy
3162	HMOX1	HP:0032342	Reduced forced expiratory volume in one second
3162	HMOX1	HP:0000093	Proteinuria
3162	HMOX1	HP:0001392	Abnormality of the liver
3162	HMOX1	HP:0001394	Cirrhosis
3162	HMOX1	HP:0000007	Autosomal recessive inheritance
3162	HMOX1	HP:0025435	Increased circulating lactate dehydrogenase concentration
3162	HMOX1	HP:0000123	Nephritis
3162	HMOX1	HP:0025420	Diffuse alveolar hemorrhage
3162	HMOX1	HP:0002716	Lymphadenopathy
3162	HMOX1	HP:0002726	Recurrent Staphylococcus aureus infections
3162	HMOX1	HP:0002724	Recurrent Aspergillus infections
3162	HMOX1	HP:0002024	Malabsorption
3162	HMOX1	HP:0002020	Gastroesophageal reflux
3162	HMOX1	HP:0002035	Rectal prolapse
3162	HMOX1	HP:0002099	Asthma
3162	HMOX1	HP:0100582	Nasal polyposis
3162	HMOX1	HP:0002110	Bronchiectasis
3162	HMOX1	HP:0002107	Pneumothorax
3162	HMOX1	HP:0002105	Hemoptysis
3162	HMOX1	HP:0002240	Hepatomegaly
3162	HMOX1	HP:0002205	Recurrent respiratory infections
3162	HMOX1	HP:0004844	Coombs-positive hemolytic anemia
3162	HMOX1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
3162	HMOX1	HP:0031964	Elevated circulating alanine aminotransferase concentration
3162	HMOX1	HP:0000739	Anxiety
3162	HMOX1	HP:0000716	Depression
3162	HMOX1	HP:0000790	Hematuria
3162	HMOX1	HP:0000787	Nephrolithiasis
3162	HMOX1	HP:0004401	Meconium ileus
3162	HMOX1	HP:0030783	Increased circulating interleukin 6 concentration
3162	HMOX1	HP:0000822	Hypertension
3162	HMOX1	HP:0012873	Absent vas deferens
3162	HMOX1	HP:0045082	Decreased body mass index
3162	HMOX1	HP:0003281	Increased circulating ferritin concentration
3162	HMOX1	HP:0000939	Osteoporosis
3162	HMOX1	HP:0000938	Osteopenia
3162	HMOX1	HP:0012236	Elevated sweat chloride
3162	HMOX1	HP:0000246	Sinusitis
3162	HMOX1	HP:0001508	Failure to thrive
3162	HMOX1	HP:0001510	Growth delay
3162	HMOX1	HP:0002842	Recurrent Burkholderia cepacia infections
3162	HMOX1	HP:0006510	Chronic pulmonary obstruction
3162	HMOX1	HP:0012375	Chemosis
3162	HMOX1	HP:0006536	Airway obstruction
3162	HMOX1	HP:0002910	Elevated hepatic transaminase
3162	HMOX1	HP:0000365	Hearing impairment
3162	HMOX1	HP:0005376	Recurrent Haemophilus influenzae infections
3162	HMOX1	HP:0001738	Exocrine pancreatic insufficiency
3162	HMOX1	HP:0001746	Asplenia
3162	HMOX1	HP:0000421	Epistaxis
3162	HMOX1	HP:0011227	Elevated circulating C-reactive protein concentration
3162	HMOX1	HP:0001894	Thrombocytosis
3162	HMOX1	HP:0001878	Hemolytic anemia
3166	HMX1	HP:0001104	Macular hypoplasia
3166	HMX1	HP:0003778	Short mandibular rami
3166	HMX1	HP:0032286	Ultra-low vision with retained light perception
3166	HMX1	HP:0000007	Autosomal recessive inheritance
3166	HMX1	HP:0020049	Exodeviation
3166	HMX1	HP:0000639	Nystagmus
3166	HMX1	HP:0000647	Sclerocornea
3166	HMX1	HP:0000612	Iris coloboma
3166	HMX1	HP:0000627	Posterior embryotoxon
3166	HMX1	HP:0000667	Phthisis bulbi
3166	HMX1	HP:0000666	Horizontal nystagmus
3166	HMX1	HP:0006934	Congenital nystagmus
3166	HMX1	HP:0011484	Posterior synechiae of the anterior chamber
3166	HMX1	HP:0011523	Iris cyst
3166	HMX1	HP:0003298	Spina bifida occulta
3166	HMX1	HP:0007700	Ocular anterior segment dysgenesis
3166	HMX1	HP:0025514	Morning glory anomaly
3166	HMX1	HP:0000387	Absent earlobe
3166	HMX1	HP:0012376	Microphakia
3166	HMX1	HP:0000369	Low-set ears
3166	HMX1	HP:0007906	Ocular hypertension
3166	HMX1	HP:0000402	Stenosis of the external auditory canal
3166	HMX1	HP:0000480	Retinal coloboma
3166	HMX1	HP:0000482	Microcornea
3166	HMX1	HP:0000518	Cataract
3166	HMX1	HP:0000519	Developmental cataract
3166	HMX1	HP:0000510	Rod-cone dystrophy
3166	HMX1	HP:0000579	Nasolacrimal duct obstruction
3166	HMX1	HP:0000568	Microphthalmia
3166	HMX1	HP:0000567	Chorioretinal coloboma
3166	HMX1	HP:0000541	Retinal detachment
3166	HMX1	HP:0000533	Chorioretinal atrophy
3166	HMX1	HP:0000548	Cone/cone-rod dystrophy
3170	FOXA2	HP:0009888	Abnormality of secondary sexual hair
3170	FOXA2	HP:0001274	Agenesis of corpus callosum
3170	FOXA2	HP:0001250	Seizure
3170	FOXA2	HP:0100842	Septo-optic dysplasia
3170	FOXA2	HP:0008734	Decreased testicular size
3170	FOXA2	HP:0000044	Hypogonadotropic hypogonadism
3170	FOXA2	HP:0001360	Holoprosencephaly
3170	FOXA2	HP:0001331	Absent septum pellucidum
3170	FOXA2	HP:0002615	Hypotension
3170	FOXA2	HP:0000141	Amenorrhea
3170	FOXA2	HP:0002750	Delayed skeletal maturation
3170	FOXA2	HP:0002019	Constipation
3170	FOXA2	HP:0004637	Decreased cervical spine mobility
3170	FOXA2	HP:0010442	Polydactyly
3170	FOXA2	HP:0011755	Ectopic posterior pituitary
3170	FOXA2	HP:0008187	Absence of secondary sex characteristics
3170	FOXA2	HP:0008245	Pituitary hypothyroidism
3170	FOXA2	HP:0010627	Anterior pituitary hypoplasia
3170	FOXA2	HP:0010626	Anterior pituitary agenesis
3170	FOXA2	HP:0008501	Median cleft lip and palate
3170	FOXA2	HP:0001943	Hypoglycemia
3170	FOXA2	HP:0000609	Optic nerve hypoplasia
3170	FOXA2	HP:0011344	Severe global developmental delay
3170	FOXA2	HP:0005625	Osteoporosis of vertebrae
3170	FOXA2	HP:0012731	Ectopic anterior pituitary gland
3170	FOXA2	HP:0000789	Infertility
3170	FOXA2	HP:0000839	Pituitary dwarfism
3170	FOXA2	HP:0000824	Decreased response to growth hormone stimulation test
3170	FOXA2	HP:0000823	Delayed puberty
3170	FOXA2	HP:0040075	Hypopituitarism
3170	FOXA2	HP:0040086	Abnormal prolactin level
3170	FOXA2	HP:0010311	Aplasia/Hypoplasia of the breasts
3170	FOXA2	HP:0000938	Osteopenia
3170	FOXA2	HP:0001510	Growth delay
3170	FOXA2	HP:0012378	Fatigue
3170	FOXA2	HP:0002920	Decreased circulating ACTH level
3170	FOXA2	HP:0000478	Abnormality of the eye
3170	FOXA2	HP:0000457	Depressed nasal ridge
3170	FOXA2	HP:0011297	Abnormal digit morphology
3172	HNF4A	HP:0001254	Lethargy
3172	HNF4A	HP:0001250	Seizure
3172	HNF4A	HP:0001249	Intellectual disability
3172	HNF4A	HP:0002594	Pancreatic hypoplasia
3172	HNF4A	HP:0001259	Coma
3172	HNF4A	HP:0000093	Proteinuria
3172	HNF4A	HP:0000077	Abnormality of the kidney
3172	HNF4A	HP:0012028	Hepatocellular adenoma
3172	HNF4A	HP:0001337	Tremor
3172	HNF4A	HP:0000006	Autosomal dominant inheritance
3172	HNF4A	HP:0001319	Neonatal hypotonia
3172	HNF4A	HP:0031284	Flushing
3172	HNF4A	HP:0000121	Nephrocalcinosis
3172	HNF4A	HP:0000119	Abnormality of the genitourinary system
3172	HNF4A	HP:0000112	Nephropathy
3172	HNF4A	HP:0000107	Renal cyst
3172	HNF4A	HP:0002748	Rickets
3172	HNF4A	HP:0003355	Aminoaciduria
3172	HNF4A	HP:0002014	Diarrhea
3172	HNF4A	HP:0002013	Vomiting
3172	HNF4A	HP:0005979	Metabolic ketoacidosis
3172	HNF4A	HP:0005978	Type II diabetes mellitus
3172	HNF4A	HP:0002148	Hypophosphatemia
3172	HNF4A	HP:0008255	Transient neonatal diabetes mellitus
3172	HNF4A	HP:0002240	Hepatomegaly
3172	HNF4A	HP:0003584	Late onset
3172	HNF4A	HP:0003537	Hypouricemia
3172	HNF4A	HP:0002344	Progressive neurologic deterioration
3172	HNF4A	HP:0002329	Drowsiness
3172	HNF4A	HP:0003623	Neonatal onset
3172	HNF4A	HP:0004912	Hypophosphatemic rickets
3172	HNF4A	HP:0004924	Abnormal oral glucose tolerance
3172	HNF4A	HP:0004904	Maturity-onset diabetes of the young
3172	HNF4A	HP:0031819	Increased waist to hip ratio
3172	HNF4A	HP:0001943	Hypoglycemia
3172	HNF4A	HP:0001942	Metabolic acidosis
3172	HNF4A	HP:0001953	Diabetic ketoacidosis
3172	HNF4A	HP:0001952	Glucose intolerance
3172	HNF4A	HP:0001985	Hypoketotic hypoglycemia
3172	HNF4A	HP:0001998	Neonatal hypoglycemia
3172	HNF4A	HP:0001994	Renal Fanconi syndrome
3172	HNF4A	HP:0004324	Increased body weight
3172	HNF4A	HP:0004322	Short stature
3172	HNF4A	HP:0003076	Glycosuria
3172	HNF4A	HP:0003074	Hyperglycemia
3172	HNF4A	HP:0004359	Abnormal circulating fatty-acid concentration
3172	HNF4A	HP:0000713	Agitation
3172	HNF4A	HP:0003109	Hyperphosphaturia
3172	HNF4A	HP:0030794	Abnormal circulating C-peptide concentration
3172	HNF4A	HP:0003155	Elevated circulating alkaline phosphatase concentration
3172	HNF4A	HP:0003162	Fasting hypoglycemia
3172	HNF4A	HP:0000855	Insulin resistance
3172	HNF4A	HP:0000831	Insulin-resistant diabetes mellitus
3172	HNF4A	HP:0000842	Hyperinsulinemia
3172	HNF4A	HP:0000819	Diabetes mellitus
3172	HNF4A	HP:0000825	Hyperinsulinemic hypoglycemia
3172	HNF4A	HP:0040214	Abnormal circulating insulin concentration
3172	HNF4A	HP:0040217	Elevated hemoglobin A1c
3172	HNF4A	HP:0040216	Hypoinsulinemia
3172	HNF4A	HP:0004510	Pancreatic islet-cell hyperplasia
3172	HNF4A	HP:0000980	Pallor
3172	HNF4A	HP:0000975	Hyperhidrosis
3172	HNF4A	HP:0000956	Acanthosis nigricans
3172	HNF4A	HP:0030057	Autoimmune antibody positivity
3172	HNF4A	HP:0025502	Overweight
3172	HNF4A	HP:0001520	Large for gestational age
3172	HNF4A	HP:0001511	Intrauterine growth retardation
3172	HNF4A	HP:0001513	Obesity
3172	HNF4A	HP:0012378	Fatigue
3172	HNF4A	HP:0006568	Increased hepatic glycogen content
3172	HNF4A	HP:0002910	Elevated hepatic transaminase
3172	HNF4A	HP:0001649	Tachycardia
3172	HNF4A	HP:0001738	Exocrine pancreatic insufficiency
3172	HNF4A	HP:0000488	Retinopathy
3176	HNMT	HP:0010864	Intellectual disability, severe
3176	HNMT	HP:0001270	Motor delay
3176	HNMT	HP:0001249	Intellectual disability
3176	HNMT	HP:0001263	Global developmental delay
3176	HNMT	HP:0000007	Autosomal recessive inheritance
3176	HNMT	HP:0000006	Autosomal dominant inheritance
3176	HNMT	HP:0001426	Multifactorial inheritance
3176	HNMT	HP:0002099	Asthma
3176	HNMT	HP:0003593	Infantile onset
3176	HNMT	HP:4000007	Bronchoconstriction
3176	HNMT	HP:0000750	Delayed speech and language development
3176	HNMT	HP:0000252	Microcephaly
3176	HNMT	HP:0032933	Airway hyperresponsiveness
3178	HNRNPA1	HP:0002493	Upper motor neuron dysfunction
3178	HNRNPA1	HP:0002463	Language impairment
3178	HNRNPA1	HP:0002460	Distal muscle weakness
3178	HNRNPA1	HP:0002442	Dyscalculia
3178	HNRNPA1	HP:0002450	Abnormal motor neuron morphology
3178	HNRNPA1	HP:0003738	Exercise-induced myalgia
3178	HNRNPA1	HP:0003701	Proximal muscle weakness
3178	HNRNPA1	HP:0003700	Generalized amyotrophy
3178	HNRNPA1	HP:0001293	Cranial nerve compression
3178	HNRNPA1	HP:0001249	Intellectual disability
3178	HNRNPA1	HP:0001257	Spasticity
3178	HNRNPA1	HP:0007373	Motor neuron atrophy
3178	HNRNPA1	HP:0007354	Amyotrophic lateral sclerosis
3178	HNRNPA1	HP:0002515	Waddling gait
3178	HNRNPA1	HP:0002505	Loss of ambulation
3178	HNRNPA1	HP:0003805	Rimmed vacuoles
3178	HNRNPA1	HP:0001397	Hepatic steatosis
3178	HNRNPA1	HP:0002683	Abnormal calvaria morphology
3178	HNRNPA1	HP:0012083	Ubiquitin-positive cerebral inclusion bodies
3178	HNRNPA1	HP:0002659	Increased susceptibility to fractures
3178	HNRNPA1	HP:0000006	Autosomal dominant inheritance
3178	HNRNPA1	HP:0002797	Osteolysis
3178	HNRNPA1	HP:0025425	Laryngospasm
3178	HNRNPA1	HP:0008994	Proximal muscle weakness in lower limbs
3178	HNRNPA1	HP:0002795	Abnormal respiratory system physiology
3178	HNRNPA1	HP:0002756	Pathologic fracture
3178	HNRNPA1	HP:0002017	Nausea and vomiting
3178	HNRNPA1	HP:0003307	Hyperlordosis
3178	HNRNPA1	HP:0003324	Generalized muscle weakness
3178	HNRNPA1	HP:0002094	Dyspnea
3178	HNRNPA1	HP:0003394	Muscle spasm
3178	HNRNPA1	HP:0003390	Sensory axonal neuropathy
3178	HNRNPA1	HP:0002145	Frontotemporal dementia
3178	HNRNPA1	HP:0003470	Paralysis
3178	HNRNPA1	HP:0003458	EMG: myopathic abnormalities
3178	HNRNPA1	HP:0003444	EMG: chronic denervation signs
3178	HNRNPA1	HP:0003445	EMG: neuropathic changes
3178	HNRNPA1	HP:0002180	Neurodegeneration
3178	HNRNPA1	HP:0003596	Middle age onset
3178	HNRNPA1	HP:0003560	Muscular dystrophy
3178	HNRNPA1	HP:0003557	Increased variability in muscle fiber diameter
3178	HNRNPA1	HP:0007002	Motor axonal neuropathy
3178	HNRNPA1	HP:0002380	Fasciculations
3178	HNRNPA1	HP:0002381	Aphasia
3178	HNRNPA1	HP:0003687	Centrally nucleated skeletal muscle fibers
3178	HNRNPA1	HP:0002300	Mutism
3178	HNRNPA1	HP:0009023	Abdominal wall muscle weakness
3178	HNRNPA1	HP:0009027	Foot dorsiflexor weakness
3178	HNRNPA1	HP:0011314	Abnormal long bone morphology
3178	HNRNPA1	HP:0004322	Short stature
3178	HNRNPA1	HP:0004347	Weakness of muscles of respiration
3178	HNRNPA1	HP:0000739	Anxiety
3178	HNRNPA1	HP:0000716	Depression
3178	HNRNPA1	HP:0000712	Emotional lability
3178	HNRNPA1	HP:0000713	Agitation
3178	HNRNPA1	HP:0011462	Young adult onset
3178	HNRNPA1	HP:0003198	Myopathy
3178	HNRNPA1	HP:0000925	Abnormality of the vertebral column
3178	HNRNPA1	HP:0003155	Elevated circulating alkaline phosphatase concentration
3178	HNRNPA1	HP:0004490	Calvarial hyperostosis
3178	HNRNPA1	HP:0003236	Elevated circulating creatine kinase concentration
3178	HNRNPA1	HP:0003202	Skeletal muscle atrophy
3178	HNRNPA1	HP:0030838	Hip pain
3178	HNRNPA1	HP:0100299	Muscle fiber inclusion bodies
3178	HNRNPA1	HP:0100297	Increased endomysial connective tissue
3178	HNRNPA1	HP:0000217	Xerostomia
3178	HNRNPA1	HP:0002878	Respiratory failure
3178	HNRNPA1	HP:0002839	Urinary bladder sphincter dysfunction
3178	HNRNPA1	HP:0012378	Fatigue
3178	HNRNPA1	HP:0030196	Fatigable weakness of respiratory muscles
3178	HNRNPA1	HP:0030195	Fatigable weakness of swallowing muscles
3178	HNRNPA1	HP:0030192	Fatigable weakness of bulbar muscles
3178	HNRNPA1	HP:0001635	Congestive heart failure
3178	HNRNPA1	HP:0001638	Cardiomyopathy
3178	HNRNPA1	HP:0012444	Brain atrophy
3178	HNRNPA1	HP:0006785	Limb-girdle muscular dystrophy
3178	HNRNPA1	HP:0000518	Cataract
3178	HNRNPA1	HP:0012548	Fatty replacement of skeletal muscle
3178	HNRNPA1	HP:0012531	Pain
3181	HNRNPA2B1	HP:0002493	Upper motor neuron dysfunction
3181	HNRNPA2B1	HP:0002463	Language impairment
3181	HNRNPA2B1	HP:0002460	Distal muscle weakness
3181	HNRNPA2B1	HP:0002442	Dyscalculia
3181	HNRNPA2B1	HP:0002450	Abnormal motor neuron morphology
3181	HNRNPA2B1	HP:0003701	Proximal muscle weakness
3181	HNRNPA2B1	HP:0003700	Generalized amyotrophy
3181	HNRNPA2B1	HP:0001293	Cranial nerve compression
3181	HNRNPA2B1	HP:0001249	Intellectual disability
3181	HNRNPA2B1	HP:0007354	Amyotrophic lateral sclerosis
3181	HNRNPA2B1	HP:0002515	Waddling gait
3181	HNRNPA2B1	HP:0003805	Rimmed vacuoles
3181	HNRNPA2B1	HP:0001397	Hepatic steatosis
3181	HNRNPA2B1	HP:0002683	Abnormal calvaria morphology
3181	HNRNPA2B1	HP:0012083	Ubiquitin-positive cerebral inclusion bodies
3181	HNRNPA2B1	HP:0002659	Increased susceptibility to fractures
3181	HNRNPA2B1	HP:0001324	Muscle weakness
3181	HNRNPA2B1	HP:0000006	Autosomal dominant inheritance
3181	HNRNPA2B1	HP:0002797	Osteolysis
3181	HNRNPA2B1	HP:0002756	Pathologic fracture
3181	HNRNPA2B1	HP:0003307	Hyperlordosis
3181	HNRNPA2B1	HP:0100543	Cognitive impairment
3181	HNRNPA2B1	HP:0003390	Sensory axonal neuropathy
3181	HNRNPA2B1	HP:0002145	Frontotemporal dementia
3181	HNRNPA2B1	HP:0003458	EMG: myopathic abnormalities
3181	HNRNPA2B1	HP:0003444	EMG: chronic denervation signs
3181	HNRNPA2B1	HP:0003445	EMG: neuropathic changes
3181	HNRNPA2B1	HP:0003557	Increased variability in muscle fiber diameter
3181	HNRNPA2B1	HP:0007002	Motor axonal neuropathy
3181	HNRNPA2B1	HP:0002380	Fasciculations
3181	HNRNPA2B1	HP:0002381	Aphasia
3181	HNRNPA2B1	HP:0003687	Centrally nucleated skeletal muscle fibers
3181	HNRNPA2B1	HP:0100614	Myositis
3181	HNRNPA2B1	HP:0002300	Mutism
3181	HNRNPA2B1	HP:0011314	Abnormal long bone morphology
3181	HNRNPA2B1	HP:0004322	Short stature
3181	HNRNPA2B1	HP:0034159	Paget disease of bone
3181	HNRNPA2B1	HP:0004347	Weakness of muscles of respiration
3181	HNRNPA2B1	HP:0003198	Myopathy
3181	HNRNPA2B1	HP:0000925	Abnormality of the vertebral column
3181	HNRNPA2B1	HP:0003155	Elevated circulating alkaline phosphatase concentration
3181	HNRNPA2B1	HP:0004490	Calvarial hyperostosis
3181	HNRNPA2B1	HP:0003236	Elevated circulating creatine kinase concentration
3181	HNRNPA2B1	HP:0003202	Skeletal muscle atrophy
3181	HNRNPA2B1	HP:0030838	Hip pain
3181	HNRNPA2B1	HP:0100295	Muscle fiber atrophy
3181	HNRNPA2B1	HP:0002839	Urinary bladder sphincter dysfunction
3181	HNRNPA2B1	HP:0001635	Congestive heart failure
3181	HNRNPA2B1	HP:0001638	Cardiomyopathy
3181	HNRNPA2B1	HP:0012444	Brain atrophy
3181	HNRNPA2B1	HP:0000518	Cataract
3181	HNRNPA2B1	HP:0012548	Fatty replacement of skeletal muscle
3187	HNRNPH1	HP:0001188	Hand clenching
3187	HNRNPH1	HP:0001166	Arachnodactyly
3187	HNRNPH1	HP:0010957	Congenital posterior urethral valve
3187	HNRNPH1	HP:0010864	Intellectual disability, severe
3187	HNRNPH1	HP:0001250	Seizure
3187	HNRNPH1	HP:0001252	Hypotonia
3187	HNRNPH1	HP:0001251	Ataxia
3187	HNRNPH1	HP:0001249	Intellectual disability
3187	HNRNPH1	HP:0001263	Global developmental delay
3187	HNRNPH1	HP:0002540	Inability to walk
3187	HNRNPH1	HP:0002553	Highly arched eyebrow
3187	HNRNPH1	HP:0000085	Horseshoe kidney
3187	HNRNPH1	HP:0001388	Joint laxity
3187	HNRNPH1	HP:0000047	Hypospadias
3187	HNRNPH1	HP:0002677	Small foramen magnum
3187	HNRNPH1	HP:0001357	Plagiocephaly
3187	HNRNPH1	HP:0000028	Cryptorchidism
3187	HNRNPH1	HP:0001332	Dystonia
3187	HNRNPH1	HP:0001344	Absent speech
3187	HNRNPH1	HP:0002673	Coxa valga
3187	HNRNPH1	HP:0000006	Autosomal dominant inheritance
3187	HNRNPH1	HP:0001320	Cerebellar vermis hypoplasia
3187	HNRNPH1	HP:0002650	Scoliosis
3187	HNRNPH1	HP:0004684	Talipes valgus
3187	HNRNPH1	HP:0002020	Gastroesophageal reflux
3187	HNRNPH1	HP:0002144	Tethered cord
3187	HNRNPH1	HP:0003577	Congenital onset
3187	HNRNPH1	HP:0100760	Clubbing of toes
3187	HNRNPH1	HP:0100759	Clubbing of fingers
3187	HNRNPH1	HP:0011968	Feeding difficulties
3187	HNRNPH1	HP:0004976	Knee dislocation
3187	HNRNPH1	HP:0004993	Slender long bones with narrow diaphyses
3187	HNRNPH1	HP:0010807	Open bite
3187	HNRNPH1	HP:0004209	Clinodactyly of the 5th finger
3187	HNRNPH1	HP:0000639	Nystagmus
3187	HNRNPH1	HP:0000678	Dental crowding
3187	HNRNPH1	HP:0004322	Short stature
3187	HNRNPH1	HP:0003048	Radial head subluxation
3187	HNRNPH1	HP:0003042	Elbow dislocation
3187	HNRNPH1	HP:0003016	Metaphyseal widening
3187	HNRNPH1	HP:0000768	Pectus carinatum
3187	HNRNPH1	HP:0003244	Penile hypospadias
3187	HNRNPH1	HP:0000938	Osteopenia
3187	HNRNPH1	HP:0000278	Retrognathia
3187	HNRNPH1	HP:0000276	Long face
3187	HNRNPH1	HP:0000272	Malar flattening
3187	HNRNPH1	HP:0002827	Hip dislocation
3187	HNRNPH1	HP:0000252	Microcephaly
3187	HNRNPH1	HP:0000218	High palate
3187	HNRNPH1	HP:0001508	Failure to thrive
3187	HNRNPH1	HP:0030048	Colpocephaly
3187	HNRNPH1	HP:0000385	Small earlobe
3187	HNRNPH1	HP:0000369	Low-set ears
3187	HNRNPH1	HP:0000348	High forehead
3187	HNRNPH1	HP:0000303	Mandibular prognathia
3187	HNRNPH1	HP:0000486	Strabismus
3187	HNRNPH1	HP:0000494	Downslanted palpebral fissures
3187	HNRNPH1	HP:0000418	Narrow nasal ridge
3187	HNRNPH1	HP:0000581	Blepharophimosis
3187	HNRNPH1	HP:0000543	Optic disc pallor
3188	HNRNPH2	HP:0001166	Arachnodactyly
3188	HNRNPH2	HP:0001276	Hypertonia
3188	HNRNPH2	HP:0001288	Gait disturbance
3188	HNRNPH2	HP:0001250	Seizure
3188	HNRNPH2	HP:0001252	Hypotonia
3188	HNRNPH2	HP:0001251	Ataxia
3188	HNRNPH2	HP:0001249	Intellectual disability
3188	HNRNPH2	HP:0001263	Global developmental delay
3188	HNRNPH2	HP:0001212	Prominent fingertip pads
3188	HNRNPH2	HP:0001388	Joint laxity
3188	HNRNPH2	HP:0001344	Absent speech
3188	HNRNPH2	HP:0002650	Scoliosis
3188	HNRNPH2	HP:0001321	Cerebellar hypoplasia
3188	HNRNPH2	HP:0000154	Wide mouth
3188	HNRNPH2	HP:0001423	X-linked dominant inheritance
3188	HNRNPH2	HP:0002020	Gastroesophageal reflux
3188	HNRNPH2	HP:0003307	Hyperlordosis
3188	HNRNPH2	HP:0011800	Midface retrusion
3188	HNRNPH2	HP:0003593	Infantile onset
3188	HNRNPH2	HP:0100716	Self-injurious behavior
3188	HNRNPH2	HP:0002212	Curly hair
3188	HNRNPH2	HP:0007018	Attention deficit hyperactivity disorder
3188	HNRNPH2	HP:0011968	Feeding difficulties
3188	HNRNPH2	HP:0002376	Developmental regression
3188	HNRNPH2	HP:0009765	Low hanging columella
3188	HNRNPH2	HP:0002307	Drooling
3188	HNRNPH2	HP:0000601	Hypotelorism
3188	HNRNPH2	HP:0004322	Short stature
3188	HNRNPH2	HP:0012745	Short palpebral fissure
3188	HNRNPH2	HP:0100024	Conspicuously happy disposition
3188	HNRNPH2	HP:0100023	Recurrent hand flapping
3188	HNRNPH2	HP:0000768	Pectus carinatum
3188	HNRNPH2	HP:0000739	Anxiety
3188	HNRNPH2	HP:0000718	Aggressive behavior
3188	HNRNPH2	HP:0000729	Autistic behavior
3188	HNRNPH2	HP:0000286	Epicanthus
3188	HNRNPH2	HP:0000218	High palate
3188	HNRNPH2	HP:0001508	Failure to thrive
3188	HNRNPH2	HP:0007874	Almond-shaped palpebral fissure
3188	HNRNPH2	HP:0000347	Micrognathia
3188	HNRNPH2	HP:0000316	Hypertelorism
3188	HNRNPH2	HP:0000322	Short philtrum
3188	HNRNPH2	HP:0001631	Atrial septal defect
3188	HNRNPH2	HP:0001634	Mitral valve prolapse
3188	HNRNPH2	HP:0012471	Thick vermilion border
3188	HNRNPH2	HP:0012450	Chronic constipation
3188	HNRNPH2	HP:0001763	Pes planus
3188	HNRNPH2	HP:0000430	Underdeveloped nasal alae
3188	HNRNPH2	HP:0005484	Secondary microcephaly
3188	HNRNPH2	HP:0000577	Exotropia
3190	HNRNPK	HP:0002465	Poor speech
3190	HNRNPK	HP:0007328	Impaired pain sensation
3190	HNRNPK	HP:0010946	Dilatation of the renal pelvis
3190	HNRNPK	HP:0001195	Single umbilical artery
3190	HNRNPK	HP:0010880	Increased nuchal translucency
3190	HNRNPK	HP:0010864	Intellectual disability, severe
3190	HNRNPK	HP:0008551	Microtia
3190	HNRNPK	HP:0003763	Bruxism
3190	HNRNPK	HP:0001274	Agenesis of corpus callosum
3190	HNRNPK	HP:0001284	Areflexia
3190	HNRNPK	HP:0001250	Seizure
3190	HNRNPK	HP:0001252	Hypotonia
3190	HNRNPK	HP:0002579	Gastrointestinal dysmotility
3190	HNRNPK	HP:0001249	Intellectual disability
3190	HNRNPK	HP:0002578	Gastroparesis
3190	HNRNPK	HP:0001263	Global developmental delay
3190	HNRNPK	HP:0002558	Supernumerary nipple
3190	HNRNPK	HP:0002572	Episodic vomiting
3190	HNRNPK	HP:0002540	Inability to walk
3190	HNRNPK	HP:0000076	Vesicoureteral reflux
3190	HNRNPK	HP:0001385	Hip dysplasia
3190	HNRNPK	HP:0001388	Joint laxity
3190	HNRNPK	HP:0001363	Craniosynostosis
3190	HNRNPK	HP:0001357	Plagiocephaly
3190	HNRNPK	HP:0000028	Cryptorchidism
3190	HNRNPK	HP:0008872	Feeding difficulties in infancy
3190	HNRNPK	HP:0006191	Deep palmar crease
3190	HNRNPK	HP:0001324	Muscle weakness
3190	HNRNPK	HP:0001344	Absent speech
3190	HNRNPK	HP:0002673	Coxa valga
3190	HNRNPK	HP:0000006	Autosomal dominant inheritance
3190	HNRNPK	HP:0002650	Scoliosis
3190	HNRNPK	HP:0001315	Reduced tendon reflexes
3190	HNRNPK	HP:0002616	Aortic root aneurysm
3190	HNRNPK	HP:0025480	Lipomyelomeningocele
3190	HNRNPK	HP:0000194	Open mouth
3190	HNRNPK	HP:0000193	Bifid uvula
3190	HNRNPK	HP:0000158	Macroglossia
3190	HNRNPK	HP:0000175	Cleft palate
3190	HNRNPK	HP:0007655	Eversion of lateral third of lower eyelids
3190	HNRNPK	HP:0002705	High, narrow palate
3190	HNRNPK	HP:0000126	Hydronephrosis
3190	HNRNPK	HP:0002714	Downturned corners of mouth
3190	HNRNPK	HP:0002711	Exaggerated median tongue furrow
3190	HNRNPK	HP:0002020	Gastroesophageal reflux
3190	HNRNPK	HP:0002019	Constipation
3190	HNRNPK	HP:0011807	Type 1 muscle fiber atrophy
3190	HNRNPK	HP:0003396	Syringomyelia
3190	HNRNPK	HP:0002079	Hypoplasia of the corpus callosum
3190	HNRNPK	HP:0002046	Heat intolerance
3190	HNRNPK	HP:0003388	Easy fatigability
3190	HNRNPK	HP:0002119	Ventriculomegaly
3190	HNRNPK	HP:0003422	Vertebral segmentation defect
3190	HNRNPK	HP:0002263	Exaggerated cupid's bow
3190	HNRNPK	HP:0002282	Gray matter heterotopia
3190	HNRNPK	HP:0007018	Attention deficit hyperactivity disorder
3190	HNRNPK	HP:0011968	Feeding difficulties
3190	HNRNPK	HP:0002342	Intellectual disability, moderate
3190	HNRNPK	HP:0010807	Open bite
3190	HNRNPK	HP:0009804	Tooth agenesis
3190	HNRNPK	HP:0009794	Branchial anomaly
3190	HNRNPK	HP:0004942	Aortic aneurysm
3190	HNRNPK	HP:0004209	Clinodactyly of the 5th finger
3190	HNRNPK	HP:0012622	Chronic kidney disease
3190	HNRNPK	HP:0000637	Long palpebral fissure
3190	HNRNPK	HP:0001954	Recurrent fever
3190	HNRNPK	HP:0000609	Optic nerve hypoplasia
3190	HNRNPK	HP:0000677	Oligodontia
3190	HNRNPK	HP:0011330	Metopic synostosis
3190	HNRNPK	HP:0000689	Dental malocclusion
3190	HNRNPK	HP:0030674	Antenatal onset
3190	HNRNPK	HP:0004389	Intestinal pseudo-obstruction
3190	HNRNPK	HP:0031936	Delayed ability to walk
3190	HNRNPK	HP:0000767	Pectus excavatum
3190	HNRNPK	HP:0011470	Nasogastric tube feeding in infancy
3190	HNRNPK	HP:0004443	Lambdoidal craniosynostosis
3190	HNRNPK	HP:0004442	Sagittal craniosynostosis
3190	HNRNPK	HP:0003196	Short nose
3190	HNRNPK	HP:0003186	Inverted nipples
3190	HNRNPK	HP:0004467	Preauricular pit
3190	HNRNPK	HP:0012811	Wide nasal ridge
3190	HNRNPK	HP:0000822	Hypertension
3190	HNRNPK	HP:0000821	Hypothyroidism
3190	HNRNPK	HP:0010297	Bifid tongue
3190	HNRNPK	HP:4000105	Abnormal four chamber view of the fetal heart
3190	HNRNPK	HP:0100259	Postaxial polydactyly
3190	HNRNPK	HP:0000975	Hyperhidrosis
3190	HNRNPK	HP:0000960	Sacral dimple
3190	HNRNPK	HP:0000938	Osteopenia
3190	HNRNPK	HP:0000280	Coarse facial features
3190	HNRNPK	HP:0000278	Retrognathia
3190	HNRNPK	HP:0000276	Long face
3190	HNRNPK	HP:0000268	Dolichocephaly
3190	HNRNPK	HP:0000252	Microcephaly
3190	HNRNPK	HP:0001548	Overgrowth
3190	HNRNPK	HP:0000218	High palate
3190	HNRNPK	HP:0002877	Nocturnal hypoventilation
3190	HNRNPK	HP:0030001	Lagophthalmos
3190	HNRNPK	HP:0001508	Failure to thrive
3190	HNRNPK	HP:0001510	Growth delay
3190	HNRNPK	HP:0025671	Fetal pericardial effusion
3190	HNRNPK	HP:0002944	Thoracolumbar scoliosis
3190	HNRNPK	HP:0006481	Abnormality of primary teeth
3190	HNRNPK	HP:0000341	Narrow forehead
3190	HNRNPK	HP:0001647	Bicuspid aortic valve
3190	HNRNPK	HP:0001629	Ventricular septal defect
3190	HNRNPK	HP:0001627	Abnormal heart morphology
3190	HNRNPK	HP:0001623	Breech presentation
3190	HNRNPK	HP:0001631	Atrial septal defect
3190	HNRNPK	HP:0006610	Wide intermamillary distance
3190	HNRNPK	HP:0011147	Typical absence seizure
3190	HNRNPK	HP:0005338	Sparse lateral eyebrow
3190	HNRNPK	HP:0000407	Sensorineural hearing impairment
3190	HNRNPK	HP:0000405	Conductive hearing impairment
3190	HNRNPK	HP:0000476	Cystic hygroma
3190	HNRNPK	HP:0000494	Downslanted palpebral fissures
3190	HNRNPK	HP:0000455	Broad nasal tip
3190	HNRNPK	HP:0000456	Bifid nasal tip
3190	HNRNPK	HP:0000474	Thickened nuchal skin fold
3190	HNRNPK	HP:0001763	Pes planus
3190	HNRNPK	HP:0000411	Protruding ear
3190	HNRNPK	HP:0001762	Talipes equinovarus
3190	HNRNPK	HP:0000431	Wide nasal bridge
3190	HNRNPK	HP:0000430	Underdeveloped nasal alae
3190	HNRNPK	HP:0000426	Prominent nasal bridge
3190	HNRNPK	HP:0005487	Prominent metopic ridge
3190	HNRNPK	HP:0001845	Overlapping toe
3190	HNRNPK	HP:0000508	Ptosis
3190	HNRNPK	HP:0000587	Abnormal optic nerve morphology
3190	HNRNPK	HP:0000586	Shallow orbits
3190	HNRNPK	HP:0000589	Coloboma
3190	HNRNPK	HP:0000540	Hypermetropia
3190	HNRNPK	HP:0001869	Deep plantar creases
3190	HNRNPK	HP:0000545	Myopia
3192	HNRNPU	HP:0007270	Atypical absence seizure
3192	HNRNPU	HP:0010864	Intellectual disability, severe
3192	HNRNPU	HP:0001290	Generalized hypotonia
3192	HNRNPU	HP:0001274	Agenesis of corpus callosum
3192	HNRNPU	HP:0001250	Seizure
3192	HNRNPU	HP:0001252	Hypotonia
3192	HNRNPU	HP:0001249	Intellectual disability
3192	HNRNPU	HP:0001263	Global developmental delay
3192	HNRNPU	HP:0002566	Intestinal malrotation
3192	HNRNPU	HP:0000085	Horseshoe kidney
3192	HNRNPU	HP:0000076	Vesicoureteral reflux
3192	HNRNPU	HP:0001344	Absent speech
3192	HNRNPU	HP:0000006	Autosomal dominant inheritance
3192	HNRNPU	HP:0001336	Myoclonus
3192	HNRNPU	HP:0002650	Scoliosis
3192	HNRNPU	HP:0002007	Frontal bossing
3192	HNRNPU	HP:0002069	Bilateral tonic-clonic seizure
3192	HNRNPU	HP:0002119	Ventriculomegaly
3192	HNRNPU	HP:0002263	Exaggerated cupid's bow
3192	HNRNPU	HP:0003593	Infantile onset
3192	HNRNPU	HP:0200134	Epileptic encephalopathy
3192	HNRNPU	HP:0002376	Developmental regression
3192	HNRNPU	HP:0002353	EEG abnormality
3192	HNRNPU	HP:0010819	Atonic seizure
3192	HNRNPU	HP:0000664	Synophrys
3192	HNRNPU	HP:0004322	Short stature
3192	HNRNPU	HP:0000750	Delayed speech and language development
3192	HNRNPU	HP:0004422	Biparietal narrowing
3192	HNRNPU	HP:0000286	Epicanthus
3192	HNRNPU	HP:0007766	Optic disc hypoplasia
3192	HNRNPU	HP:0000238	Hydrocephalus
3192	HNRNPU	HP:0000252	Microcephaly
3192	HNRNPU	HP:0000218	High palate
3192	HNRNPU	HP:0000233	Thin vermilion border
3192	HNRNPU	HP:0001510	Growth delay
3192	HNRNPU	HP:0000384	Preauricular skin tag
3192	HNRNPU	HP:0001671	Abnormal cardiac septum morphology
3192	HNRNPU	HP:0032792	Tonic seizure
3192	HNRNPU	HP:0000348	High forehead
3192	HNRNPU	HP:0000347	Micrognathia
3192	HNRNPU	HP:0000319	Smooth philtrum
3192	HNRNPU	HP:0000316	Hypertelorism
3192	HNRNPU	HP:0031475	Status epilepticus without prominent motor symptoms
3192	HNRNPU	HP:0000486	Strabismus
3192	HNRNPU	HP:0012448	Delayed myelination
3192	HNRNPU	HP:0005487	Prominent metopic ridge
3192	HNRNPU	HP:0000506	Telecanthus
3192	HNRNPU	HP:0000582	Upslanted palpebral fissure
3198	HOXA1	HP:0009921	Duane anomaly
3198	HOXA1	HP:0001250	Seizure
3198	HOXA1	HP:0000007	Autosomal recessive inheritance
3198	HOXA1	HP:0002194	Delayed gross motor development
3198	HOXA1	HP:0007110	Central hypoventilation
3198	HOXA1	HP:0007817	Horizontal supranuclear gaze palsy
3198	HOXA1	HP:0000407	Sensorineural hearing impairment
3198	HOXA1	HP:0005290	Internal carotid artery hypoplasia
3199	HOXA2	HP:0008589	Hypoplastic helices
3199	HOXA2	HP:0009892	Anotia
3199	HOXA2	HP:0008551	Microtia
3199	HOXA2	HP:0001360	Holoprosencephaly
3199	HOXA2	HP:0000007	Autosomal recessive inheritance
3199	HOXA2	HP:0000006	Autosomal dominant inheritance
3199	HOXA2	HP:0000175	Cleft palate
3199	HOXA2	HP:0031229	Increased incisura length
3199	HOXA2	HP:0003577	Congenital onset
3199	HOXA2	HP:0007018	Attention deficit hyperactivity disorder
3199	HOXA2	HP:0000750	Delayed speech and language development
3199	HOXA2	HP:0000377	Abnormal pinna morphology
3199	HOXA2	HP:0000396	Overfolded helix
3199	HOXA2	HP:0000402	Stenosis of the external auditory canal
3199	HOXA2	HP:0000410	Mixed hearing impairment
3199	HOXA2	HP:0000413	Atresia of the external auditory canal
3207	HOXA11	HP:0001159	Syndactyly
3207	HOXA11	HP:0006101	Finger syndactyly
3207	HOXA11	HP:0001385	Hip dysplasia
3207	HOXA11	HP:0000006	Autosomal dominant inheritance
3207	HOXA11	HP:0004859	Amegakaryocytic thrombocytopenia
3207	HOXA11	HP:0004209	Clinodactyly of the 5th finger
3207	HOXA11	HP:0005548	Megakaryocytopenia
3207	HOXA11	HP:0001905	Congenital thrombocytopenia
3207	HOXA11	HP:0001915	Aplastic anemia
3207	HOXA11	HP:0003031	Ulnar bowing
3207	HOXA11	HP:0003182	Shallow acetabular fossae
3207	HOXA11	HP:0000979	Purpura
3207	HOXA11	HP:0000967	Petechiae
3207	HOXA11	HP:0002827	Hip dislocation
3207	HOXA11	HP:0006394	Limited pronation/supination of forearm
3207	HOXA11	HP:0005037	Proximal radio-ulnar synostosis
3207	HOXA11	HP:0002974	Radioulnar synostosis
3207	HOXA11	HP:0002986	Radial bowing
3207	HOXA11	HP:0000407	Sensorineural hearing impairment
3208	HPCA	HP:0002451	Limb dystonia
3208	HPCA	HP:0007325	Generalized dystonia
3208	HPCA	HP:0001260	Dysarthria
3208	HPCA	HP:0000007	Autosomal recessive inheritance
3208	HPCA	HP:0001337	Tremor
3208	HPCA	HP:0001304	Torsion dystonia
3208	HPCA	HP:0002015	Dysphagia
3208	HPCA	HP:0011968	Feeding difficulties
3208	HPCA	HP:0002355	Difficulty walking
3208	HPCA	HP:0003677	Slowly progressive
3208	HPCA	HP:0003621	Juvenile onset
3208	HPCA	HP:0000643	Blepharospasm
3208	HPCA	HP:0004305	Involuntary movements
3208	HPCA	HP:0000473	Torticollis
3209	HOXA13	HP:0001156	Brachydactyly
3209	HOXA13	HP:0001162	Postaxial hand polydactyly
3209	HOXA13	HP:0009882	Short distal phalanx of finger
3209	HOXA13	HP:0008551	Microtia
3209	HOXA13	HP:0003762	Uterus didelphys
3209	HOXA13	HP:0001245	Small thenar eminence
3209	HOXA13	HP:0006110	Shortening of all middle phalanges of the fingers
3209	HOXA13	HP:0008740	Longitudinal vaginal septum
3209	HOXA13	HP:0001216	Delayed ossification of carpal bones
3209	HOXA13	HP:0000083	Renal insufficiency
3209	HOXA13	HP:0000076	Vesicoureteral reflux
3209	HOXA13	HP:0000074	Ureteropelvic junction obstruction
3209	HOXA13	HP:0000041	Chordee
3209	HOXA13	HP:0000054	Micropenis
3209	HOXA13	HP:0000048	Bifid scrotum
3209	HOXA13	HP:0000047	Hypospadias
3209	HOXA13	HP:0007477	Abnormal dermatoglyphics
3209	HOXA13	HP:0000010	Recurrent urinary tract infections
3209	HOXA13	HP:0000006	Autosomal dominant inheritance
3209	HOXA13	HP:0000130	Abnormality of the uterus
3209	HOXA13	HP:0009464	Ulnar deviation of the 2nd finger
3209	HOXA13	HP:0008103	Delayed tarsal ossification
3209	HOXA13	HP:0011937	Hypoplastic fifth toenail
3209	HOXA13	HP:0009623	Proximal placement of thumb
3209	HOXA13	HP:0010584	Pseudoepiphyses
3209	HOXA13	HP:0009778	Short thumb
3209	HOXA13	HP:0004209	Clinodactyly of the 5th finger
3209	HOXA13	HP:0010034	Short 1st metacarpal
3209	HOXA13	HP:0000807	Glandular hypospadias
3209	HOXA13	HP:0000795	Abnormality of the urethra
3209	HOXA13	HP:0010109	Short hallux
3209	HOXA13	HP:0010105	Short first metatarsal
3209	HOXA13	HP:0000813	Bicornuate uterus
3209	HOXA13	HP:0009237	Short 5th finger
3209	HOXA13	HP:0000960	Sacral dimple
3209	HOXA13	HP:0008080	Hallux varus
3209	HOXA13	HP:0005048	Synostosis of carpal bones
3209	HOXA13	HP:0005268	Miscarriage
3209	HOXA13	HP:0012330	Pyelonephritis
3209	HOXA13	HP:0001629	Ventricular septal defect
3209	HOXA13	HP:0000486	Strabismus
3209	HOXA13	HP:0001792	Small nail
3209	HOXA13	HP:0001885	Short 2nd toe
3211	HOXB1	HP:0001260	Dysarthria
3211	HOXB1	HP:0025312	Esophoria
3211	HOXB1	HP:0000007	Autosomal recessive inheritance
3211	HOXB1	HP:0000194	Open mouth
3211	HOXB1	HP:0007687	Unilateral ptosis
3211	HOXB1	HP:0002714	Downturned corners of mouth
3211	HOXB1	HP:0002015	Dysphagia
3211	HOXB1	HP:0011800	Midface retrusion
3211	HOXB1	HP:0002058	Myopathic facies
3211	HOXB1	HP:0003577	Congenital onset
3211	HOXB1	HP:0011968	Feeding difficulties
3211	HOXB1	HP:0010628	Facial palsy
3211	HOXB1	HP:0003680	Nonprogressive
3211	HOXB1	HP:0010804	Tented upper lip vermilion
3211	HOXB1	HP:0000750	Delayed speech and language development
3211	HOXB1	HP:0003196	Short nose
3211	HOXB1	HP:0000286	Epicanthus
3211	HOXB1	HP:0000218	High palate
3211	HOXB1	HP:0030001	Lagophthalmos
3211	HOXB1	HP:0005216	Impaired mastication
3211	HOXB1	HP:0000358	Posteriorly rotated ears
3211	HOXB1	HP:0000369	Low-set ears
3211	HOXB1	HP:0000337	Broad forehead
3211	HOXB1	HP:0000347	Micrognathia
3211	HOXB1	HP:0000319	Smooth philtrum
3211	HOXB1	HP:0000322	Short philtrum
3211	HOXB1	HP:0000407	Sensorineural hearing impairment
3211	HOXB1	HP:0005280	Depressed nasal bridge
3211	HOXB1	HP:0000463	Anteverted nares
3211	HOXB1	HP:0000565	Esotropia
3229	HOXC13	HP:0032226	Abnormal sebaceous gland morphology
3229	HOXC13	HP:0500262	Atrichia
3229	HOXC13	HP:0000007	Autosomal recessive inheritance
3229	HOXC13	HP:0000164	Abnormality of the dentition
3229	HOXC13	HP:0002164	Nail dysplasia
3229	HOXC13	HP:0008404	Nail dystrophy
3229	HOXC13	HP:0002298	Absent hair
3229	HOXC13	HP:0000707	Abnormality of the nervous system
3229	HOXC13	HP:0000924	Abnormality of the skeletal system
3229	HOXC13	HP:0000971	Abnormal sweat gland morphology
3229	HOXC13	HP:0000968	Ectodermal dysplasia
3229	HOXC13	HP:0008070	Sparse hair
3229	HOXC13	HP:0001598	Concave nail
3229	HOXC13	HP:0000478	Abnormality of the eye
3229	HOXC13	HP:0000561	Absent eyelashes
3236	HOXD10	HP:0001369	Arthritis
3236	HOXD10	HP:0000006	Autosomal dominant inheritance
3236	HOXD10	HP:0008138	Equinus calcaneus
3236	HOXD10	HP:0001848	Calcaneovalgus deformity
3236	HOXD10	HP:0001838	Rocker bottom foot
3239	HOXD13	HP:0001177	Preaxial hand polydactyly
3239	HOXD13	HP:0001156	Brachydactyly
3239	HOXD13	HP:0001159	Syndactyly
3239	HOXD13	HP:0001195	Single umbilical artery
3239	HOXD13	HP:0009882	Short distal phalanx of finger
3239	HOXD13	HP:0002575	Tracheoesophageal fistula
3239	HOXD13	HP:0006101	Finger syndactyly
3239	HOXD13	HP:0008736	Hypoplasia of penis
3239	HOXD13	HP:0006042	Y-shaped metacarpals
3239	HOXD13	HP:0006097	3-4 finger syndactyly
3239	HOXD13	HP:0000086	Ectopic kidney
3239	HOXD13	HP:0000062	Ambiguous genitalia
3239	HOXD13	HP:0000048	Bifid scrotum
3239	HOXD13	HP:0000047	Hypospadias
3239	HOXD13	HP:0000028	Cryptorchidism
3239	HOXD13	HP:0008848	Moderately short stature
3239	HOXD13	HP:0006185	Enlarged proximal interphalangeal joints
3239	HOXD13	HP:0006159	Mesoaxial hand polydactyly
3239	HOXD13	HP:0000008	Abnormal morphology of female internal genitalia
3239	HOXD13	HP:0000003	Multicystic kidney dysplasia
3239	HOXD13	HP:0000006	Autosomal dominant inheritance
3239	HOXD13	HP:0012165	Oligodactyly
3239	HOXD13	HP:0000175	Cleft palate
3239	HOXD13	HP:0002777	Tracheal stenosis
3239	HOXD13	HP:0000126	Hydronephrosis
3239	HOXD13	HP:0001440	Metatarsal synostosis
3239	HOXD13	HP:0000104	Renal agenesis
3239	HOXD13	HP:0002023	Anal atresia
3239	HOXD13	HP:0004692	4-5 toe syndactyly
3239	HOXD13	HP:0004691	2-3 toe syndactyly
3239	HOXD13	HP:0002007	Frontal bossing
3239	HOXD13	HP:0002085	Occipital encephalocele
3239	HOXD13	HP:0100560	Upper limb asymmetry
3239	HOXD13	HP:0009465	Ulnar deviation of finger
3239	HOXD13	HP:0009473	Joint contracture of the hand
3239	HOXD13	HP:0003422	Vertebral segmentation defect
3239	HOXD13	HP:0011927	Short digit
3239	HOXD13	HP:0100490	Camptodactyly of finger
3239	HOXD13	HP:0010554	Cutaneous finger syndactyly
3239	HOXD13	HP:0009577	Short middle phalanx of the 2nd finger
3239	HOXD13	HP:0004704	Short fifth metatarsal
3239	HOXD13	HP:0003577	Congenital onset
3239	HOXD13	HP:0009702	Carpal synostosis
3239	HOXD13	HP:0009701	Metacarpal synostosis
3239	HOXD13	HP:0009642	Broad distal phalanx of the thumb
3239	HOXD13	HP:0001048	Cavernous hemangioma
3239	HOXD13	HP:0001032	Absent distal interphalangeal creases
3239	HOXD13	HP:0002323	Anencephaly
3239	HOXD13	HP:0009803	Short phalanx of finger
3239	HOXD13	HP:0009773	Symphalangism affecting the phalanges of the hand
3239	HOXD13	HP:0009779	3-4 toe syndactyly
3239	HOXD13	HP:0010743	Short metatarsal
3239	HOXD13	HP:0004209	Clinodactyly of the 5th finger
3239	HOXD13	HP:0010077	Broad distal phalanx of the hallux
3239	HOXD13	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux
3239	HOXD13	HP:0004220	Short middle phalanx of the 5th finger
3239	HOXD13	HP:0010049	Short metacarpal
3239	HOXD13	HP:0010047	Short 5th metacarpal
3239	HOXD13	HP:0010055	Broad hallux
3239	HOXD13	HP:0004322	Short stature
3239	HOXD13	HP:0005627	Type D brachydactyly
3239	HOXD13	HP:0030680	Abnormality of cardiovascular system morphology
3239	HOXD13	HP:0005692	Joint hyperflexibility
3239	HOXD13	HP:0000772	Abnormal rib morphology
3239	HOXD13	HP:0012732	Anorectal anomaly
3239	HOXD13	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
3239	HOXD13	HP:0000795	Abnormality of the urethra
3239	HOXD13	HP:0000776	Congenital diaphragmatic hernia
3239	HOXD13	HP:0100335	Non-midline cleft lip
3239	HOXD13	HP:0000894	Short clavicles
3239	HOXD13	HP:0005867	4-5 metacarpal synostosis
3239	HOXD13	HP:0005863	Type E brachydactyly
3239	HOXD13	HP:0008083	2nd-5th toe middle phalangeal hypoplasia
3239	HOXD13	HP:0000256	Macrocephaly
3239	HOXD13	HP:0005108	Abnormal intervertebral disk morphology
3239	HOXD13	HP:0005107	Abnormal sacrum morphology
3239	HOXD13	HP:0001571	Multiple impacted teeth
3239	HOXD13	HP:0000239	Large fontanelles
3239	HOXD13	HP:0001561	Polyhydramnios
3239	HOXD13	HP:0001539	Omphalocele
3239	HOXD13	HP:0001501	6 metacarpals
3239	HOXD13	HP:0001511	Intrauterine growth retardation
3239	HOXD13	HP:0006501	Aplasia/Hypoplasia of the radius
3239	HOXD13	HP:0012385	Camptodactyly
3239	HOXD13	HP:0005264	Abnormality of the gallbladder
3239	HOXD13	HP:0006587	Straight clavicles
3239	HOXD13	HP:0001601	Laryngomalacia
3239	HOXD13	HP:0000368	Low-set, posteriorly rotated ears
3239	HOXD13	HP:0001671	Abnormal cardiac septum morphology
3239	HOXD13	HP:0000311	Round face
3239	HOXD13	HP:0001622	Premature birth
3239	HOXD13	HP:0001732	Abnormality of the pancreas
3239	HOXD13	HP:0001770	Toe syndactyly
3239	HOXD13	HP:0006703	Aplasia/Hypoplasia of the lungs
3239	HOXD13	HP:0001850	Abnormality of the tarsal bones
3239	HOXD13	HP:0001841	Preaxial foot polydactyly
3239	HOXD13	HP:0001822	Hallux valgus
3239	HOXD13	HP:0001830	Postaxial foot polydactyly
3242	HPD	HP:0010917	Abnormal circulating tyrosine concentration
3242	HPD	HP:0010864	Intellectual disability, severe
3242	HPD	HP:0001256	Intellectual disability, mild
3242	HPD	HP:0001250	Seizure
3242	HPD	HP:0001252	Hypotonia
3242	HPD	HP:0001263	Global developmental delay
3242	HPD	HP:0000007	Autosomal recessive inheritance
3242	HPD	HP:0000006	Autosomal dominant inheritance
3242	HPD	HP:0034457	Hawkinsinuria
3242	HPD	HP:0003593	Infantile onset
3242	HPD	HP:0002213	Fine hair
3242	HPD	HP:0003623	Neonatal onset
3242	HPD	HP:0003607	4-hydroxyphenylacetic aciduria
3242	HPD	HP:0001942	Metabolic acidosis
3242	HPD	HP:0000711	Restlessness
3242	HPD	HP:0003161	4-Hydroxyphenylpyruvic aciduria
3242	HPD	HP:0000821	Hypothyroidism
3242	HPD	HP:0003231	Hypertyrosinemia
3242	HPD	HP:0008070	Sparse hair
3242	HPD	HP:0000252	Microcephaly
3242	HPD	HP:0001508	Failure to thrive
3242	HPD	HP:0002910	Elevated hepatic transaminase
3248	HPGD	HP:0010885	Avascular necrosis
3248	HPGD	HP:0001231	Abnormal fingernail morphology
3248	HPGD	HP:0001217	Clubbing
3248	HPGD	HP:0001376	Limitation of joint mobility
3248	HPGD	HP:0001369	Arthritis
3248	HPGD	HP:0001386	Joint swelling
3248	HPGD	HP:0001387	Joint stiffness
3248	HPGD	HP:0002684	Thickened calvaria
3248	HPGD	HP:0000007	Autosomal recessive inheritance
3248	HPGD	HP:0002653	Bone pain
3248	HPGD	HP:0002650	Scoliosis
3248	HPGD	HP:0002645	Wormian bones
3248	HPGD	HP:0002797	Osteolysis
3248	HPGD	HP:0031284	Flushing
3248	HPGD	HP:0002758	Osteoarthritis
3248	HPGD	HP:0002754	Osteomyelitis
3248	HPGD	HP:0002024	Malabsorption
3248	HPGD	HP:0100526	Neoplasm of the lung
3248	HPGD	HP:0005930	Abnormal epiphysis morphology
3248	HPGD	HP:0002164	Nail dysplasia
3248	HPGD	HP:0010541	Cutis gyrata of scalp
3248	HPGD	HP:0003577	Congenital onset
3248	HPGD	HP:0002240	Hepatomegaly
3248	HPGD	HP:0002239	Gastrointestinal hemorrhage
3248	HPGD	HP:0003549	Abnormality of connective tissue
3248	HPGD	HP:0010720	Abnormal hair pattern
3248	HPGD	HP:0100760	Clubbing of toes
3248	HPGD	HP:0100759	Clubbing of fingers
3248	HPGD	HP:0008391	Dystrophic fingernails
3248	HPGD	HP:0001051	Seborrheic dermatitis
3248	HPGD	HP:0001061	Acne
3248	HPGD	HP:0010829	Impaired temperature sensation
3248	HPGD	HP:0001070	Mottled pigmentation
3248	HPGD	HP:0001072	Thickened skin
3248	HPGD	HP:0200055	Small hand
3248	HPGD	HP:0010783	Erythema
3248	HPGD	HP:0009771	Osteolytic defects of the phalanges of the hand
3248	HPGD	HP:0005561	Abnormality of bone marrow cell morphology
3248	HPGD	HP:0001903	Anemia
3248	HPGD	HP:0011362	Abnormal hair quantity
3248	HPGD	HP:0011300	Broad fingertip
3248	HPGD	HP:0011304	Broad thumb
3248	HPGD	HP:0004398	Peptic ulcer
3248	HPGD	HP:0003040	Arthropathy
3248	HPGD	HP:0000771	Gynecomastia
3248	HPGD	HP:0100021	Cerebral palsy
3248	HPGD	HP:0000767	Pectus excavatum
3248	HPGD	HP:0003103	Abnormal cortical bone morphology
3248	HPGD	HP:0000929	Abnormal skull morphology
3248	HPGD	HP:0000890	Long clavicles
3248	HPGD	HP:0000845	Elevated circulating growth hormone concentration
3248	HPGD	HP:0000976	Eczematoid dermatitis
3248	HPGD	HP:0000975	Hyperhidrosis
3248	HPGD	HP:0000972	Palmoplantar hyperkeratosis
3248	HPGD	HP:0000982	Palmoplantar keratoderma
3248	HPGD	HP:0000951	Abnormality of the skin
3248	HPGD	HP:0000969	Edema
3248	HPGD	HP:0000964	Eczema
3248	HPGD	HP:0000939	Osteoporosis
3248	HPGD	HP:0000938	Osteopenia
3248	HPGD	HP:0008069	Neoplasm of the skin
3248	HPGD	HP:0000280	Coarse facial features
3248	HPGD	HP:0002815	Abnormality of the knee
3248	HPGD	HP:0002829	Arthralgia
3248	HPGD	HP:0000239	Large fontanelles
3248	HPGD	HP:0001582	Redundant skin
3248	HPGD	HP:0012203	Onychomycosis
3248	HPGD	HP:0000218	High palate
3248	HPGD	HP:0001500	Broad finger
3248	HPGD	HP:0001519	Disproportionate tall stature
3248	HPGD	HP:0001643	Patent ductus arteriosus
3248	HPGD	HP:0002992	Abnormality of tibia morphology
3248	HPGD	HP:0002970	Genu varum
3248	HPGD	HP:0001795	Hyperconvex nail
3248	HPGD	HP:0001744	Splenomegaly
3248	HPGD	HP:0001821	Broad nail
3248	HPGD	HP:0001837	Broad toe
3248	HPGD	HP:0000508	Ptosis
3248	HPGD	HP:0001805	Onychogryposis
3248	HPGD	HP:0004097	Deviation of finger
3251	HPRT1	HP:0002421	Poor head control
3251	HPRT1	HP:0001270	Motor delay
3251	HPRT1	HP:0001256	Intellectual disability, mild
3251	HPRT1	HP:0001250	Seizure
3251	HPRT1	HP:0001252	Hypotonia
3251	HPRT1	HP:0001249	Intellectual disability
3251	HPRT1	HP:0001266	Choreoathetosis
3251	HPRT1	HP:0001260	Dysarthria
3251	HPRT1	HP:0001263	Global developmental delay
3251	HPRT1	HP:0001257	Spasticity
3251	HPRT1	HP:0000083	Renal insufficiency
3251	HPRT1	HP:0001347	Hyperreflexia
3251	HPRT1	HP:0000029	Testicular atrophy
3251	HPRT1	HP:0001332	Dystonia
3251	HPRT1	HP:0000121	Nephrocalcinosis
3251	HPRT1	HP:0000112	Nephropathy
3251	HPRT1	HP:0001419	X-linked recessive inheritance
3251	HPRT1	HP:0002015	Dysphagia
3251	HPRT1	HP:0002013	Vomiting
3251	HPRT1	HP:0002071	Abnormality of extrapyramidal motor function
3251	HPRT1	HP:0100518	Dysuria
3251	HPRT1	HP:0002149	Hyperuricemia
3251	HPRT1	HP:0002179	Opisthotonus
3251	HPRT1	HP:0003593	Infantile onset
3251	HPRT1	HP:0100716	Self-injurious behavior
3251	HPRT1	HP:0002342	Intellectual disability, moderate
3251	HPRT1	HP:0003621	Juvenile onset
3251	HPRT1	HP:0001903	Anemia
3251	HPRT1	HP:0001919	Acute kidney injury
3251	HPRT1	HP:0001997	Gout
3251	HPRT1	HP:0004322	Short stature
3251	HPRT1	HP:0004374	Hemiplegia/hemiparesis
3251	HPRT1	HP:0100022	Abnormality of movement
3251	HPRT1	HP:0000742	Self-mutilation
3251	HPRT1	HP:0000708	Atypical behavior
3251	HPRT1	HP:0000707	Abnormality of the nervous system
3251	HPRT1	HP:0011463	Childhood onset
3251	HPRT1	HP:0011462	Young adult onset
3251	HPRT1	HP:0000791	Uric acid nephrolithiasis
3251	HPRT1	HP:0000790	Hematuria
3251	HPRT1	HP:0000787	Nephrolithiasis
3251	HPRT1	HP:0003149	Hyperuricosuria
3251	HPRT1	HP:0003259	Elevated circulating creatinine concentration
3251	HPRT1	HP:0002827	Hip dislocation
3251	HPRT1	HP:0001854	Podagra
3251	HPRT1	HP:0012587	Macroscopic hematuria
3251	HPRT1	HP:0001889	Megaloblastic anemia
3257	HPS1	HP:0001141	Severely reduced visual acuity
3257	HPS1	HP:0001107	Ocular albinism
3257	HPS1	HP:0002583	Colitis
3257	HPS1	HP:0002573	Hematochezia
3257	HPS1	HP:0000083	Renal insufficiency
3257	HPS1	HP:0000007	Autosomal recessive inheritance
3257	HPS1	HP:0007603	Freckles in sun-exposed areas
3257	HPS1	HP:0001480	Freckling
3257	HPS1	HP:0002037	Inflammation of the large intestine
3257	HPS1	HP:0002027	Abdominal pain
3257	HPS1	HP:0002091	Restrictive ventilatory defect
3257	HPS1	HP:0002206	Pulmonary fibrosis
3257	HPS1	HP:0001010	Hypopigmentation of the skin
3257	HPS1	HP:0001022	Albinism
3257	HPS1	HP:0005599	Hypopigmentation of hair
3257	HPS1	HP:0000639	Nystagmus
3257	HPS1	HP:0000618	Blindness
3257	HPS1	HP:0000613	Photophobia
3257	HPS1	HP:0003010	Prolonged bleeding time
3257	HPS1	HP:0000995	Melanocytic nevus
3257	HPS1	HP:0000978	Bruising susceptibility
3257	HPS1	HP:0000225	Gingival bleeding
3257	HPS1	HP:0031364	Ecchymosis
3257	HPS1	HP:0001638	Cardiomyopathy
3257	HPS1	HP:0000421	Epistaxis
3265	HRAS	HP:0001187	Hyperextensibility of the finger joints
3265	HRAS	HP:0001156	Brachydactyly
3265	HRAS	HP:0001167	Abnormal finger morphology
3265	HRAS	HP:0100963	Hyperesthesia
3265	HRAS	HP:0009917	Persistent pupillary membrane
3265	HRAS	HP:0002414	Spina bifida
3265	HRAS	HP:0003745	Sporadic
3265	HRAS	HP:0001100	Heterochromia iridis
3265	HRAS	HP:0003764	Nevus
3265	HRAS	HP:0100814	Blue nevus
3265	HRAS	HP:0001269	Hemiparesis
3265	HRAS	HP:0001250	Seizure
3265	HRAS	HP:0001252	Hypotonia
3265	HRAS	HP:0001249	Intellectual disability
3265	HRAS	HP:0001263	Global developmental delay
3265	HRAS	HP:0001231	Abnormal fingernail morphology
3265	HRAS	HP:0007440	Generalized hyperpigmentation
3265	HRAS	HP:0007400	Irregular hyperpigmentation
3265	HRAS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
3265	HRAS	HP:0007360	Aplasia/Hypoplasia of the cerebellum
3265	HRAS	HP:0002514	Cerebral calcification
3265	HRAS	HP:0000083	Renal insufficiency
3265	HRAS	HP:0000085	Horseshoe kidney
3265	HRAS	HP:0012056	Cutaneous melanoma
3265	HRAS	HP:0001347	Hyperreflexia
3265	HRAS	HP:0001357	Plagiocephaly
3265	HRAS	HP:0000028	Cryptorchidism
3265	HRAS	HP:0008872	Feeding difficulties in infancy
3265	HRAS	HP:0007534	Congenital posterior occipital alopecia
3265	HRAS	HP:0012081	Enlarged cerebellum
3265	HRAS	HP:0006191	Deep palmar crease
3265	HRAS	HP:0007477	Abnormal dermatoglyphics
3265	HRAS	HP:0002671	Basal cell carcinoma
3265	HRAS	HP:0002667	Nephroblastoma
3265	HRAS	HP:0000006	Autosomal dominant inheritance
3265	HRAS	HP:0002666	Pheochromocytoma
3265	HRAS	HP:0001305	Dandy-Walker malformation
3265	HRAS	HP:0002650	Scoliosis
3265	HRAS	HP:0001315	Reduced tendon reflexes
3265	HRAS	HP:0000189	Narrow palate
3265	HRAS	HP:0000179	Thick lower lip vermilion
3265	HRAS	HP:0000194	Open mouth
3265	HRAS	HP:0000164	Abnormality of the dentition
3265	HRAS	HP:0000158	Macroglossia
3265	HRAS	HP:0006304	Widely-spaced incisors
3265	HRAS	HP:0002780	Bronchomalacia
3265	HRAS	HP:0002779	Tracheomalacia
3265	HRAS	HP:0002757	Recurrent fractures
3265	HRAS	HP:0001428	Somatic mutation
3265	HRAS	HP:0001442	Somatic mosaicism
3265	HRAS	HP:0002751	Kyphoscoliosis
3265	HRAS	HP:0002750	Delayed skeletal maturation
3265	HRAS	HP:0002021	Pyloric stenosis
3265	HRAS	HP:0002020	Gastroesophageal reflux
3265	HRAS	HP:0002033	Poor suck
3265	HRAS	HP:0004690	Thickened Achilles tendon
3265	HRAS	HP:0002002	Deep philtrum
3265	HRAS	HP:0005989	Redundant neck skin
3265	HRAS	HP:0002007	Frontal bossing
3265	HRAS	HP:0002093	Respiratory insufficiency
3265	HRAS	HP:0100556	Hemiatrophy
3265	HRAS	HP:0100555	Asymmetric growth
3265	HRAS	HP:0002059	Cerebral atrophy
3265	HRAS	HP:0009465	Ulnar deviation of finger
3265	HRAS	HP:0002120	Cerebral cortical atrophy
3265	HRAS	HP:0002119	Ventriculomegaly
3265	HRAS	HP:0002132	Porencephalic cyst
3265	HRAS	HP:0002107	Pneumothorax
3265	HRAS	HP:0003422	Vertebral segmentation defect
3265	HRAS	HP:0009588	Vestibular schwannoma
3265	HRAS	HP:0003577	Congenital onset
3265	HRAS	HP:0100702	Arachnoid cyst
3265	HRAS	HP:0002224	Woolly hair
3265	HRAS	HP:0002232	Patchy alopecia
3265	HRAS	HP:0002212	Curly hair
3265	HRAS	HP:0002213	Fine hair
3265	HRAS	HP:0009748	Large earlobe
3265	HRAS	HP:0009720	Adenoma sebaceum
3265	HRAS	HP:0009725	Bladder neoplasm
3265	HRAS	HP:0100729	Large face
3265	HRAS	HP:0007099	Chiari type I malformation
3265	HRAS	HP:0001054	Numerous nevi
3265	HRAS	HP:0001048	Cavernous hemangioma
3265	HRAS	HP:0001028	Hemangioma
3265	HRAS	HP:0001010	Hypopigmentation of the skin
3265	HRAS	HP:0001004	Lymphedema
3265	HRAS	HP:0002353	EEG abnormality
3265	HRAS	HP:0007206	Hemimegalencephaly
3265	HRAS	HP:0010815	Nevus sebaceous
3265	HRAS	HP:0010817	Linear nevus sebaceous
3265	HRAS	HP:0100679	Lack of skin elasticity
3265	HRAS	HP:0010759	Prominence of the premaxilla
3265	HRAS	HP:0004912	Hypophosphatemic rickets
3265	HRAS	HP:0031842	Lymphangiectasis
3265	HRAS	HP:0000612	Iris coloboma
3265	HRAS	HP:0001943	Hypoglycemia
3265	HRAS	HP:0000629	Periorbital fullness
3265	HRAS	HP:0000602	Ophthalmoplegia
3265	HRAS	HP:0011387	Enlarged vestibular aqueduct
3265	HRAS	HP:0011365	Patchy hypopigmentation of hair
3265	HRAS	HP:0000682	Abnormal dental enamel morphology
3265	HRAS	HP:0004322	Short stature
3265	HRAS	HP:0005600	Congenital giant melanocytic nevus
3265	HRAS	HP:0005692	Joint hyperflexibility
3265	HRAS	HP:0012740	Papilloma
3265	HRAS	HP:0000768	Pectus carinatum
3265	HRAS	HP:0012758	Neurodevelopmental delay
3265	HRAS	HP:0003109	Hyperphosphaturia
3265	HRAS	HP:0004422	Biparietal narrowing
3265	HRAS	HP:0003196	Short nose
3265	HRAS	HP:0000826	Precocious puberty
3265	HRAS	HP:0030880	Raynaud phenomenon
3265	HRAS	HP:0000995	Melanocytic nevus
3265	HRAS	HP:0000975	Hyperhidrosis
3265	HRAS	HP:0000953	Hyperpigmentation of the skin
3265	HRAS	HP:0000956	Acanthosis nigricans
3265	HRAS	HP:0000951	Abnormality of the skin
3265	HRAS	HP:0000962	Hyperkeratosis
3265	HRAS	HP:0000938	Osteopenia
3265	HRAS	HP:0040149	Woolly scalp hair
3265	HRAS	HP:0008070	Sparse hair
3265	HRAS	HP:0008064	Ichthyosis
3265	HRAS	HP:0011675	Arrhythmia
3265	HRAS	HP:0040198	Non-medullary thyroid carcinoma
3265	HRAS	HP:0000286	Epicanthus
3265	HRAS	HP:0000280	Coarse facial features
3265	HRAS	HP:0000293	Full cheeks
3265	HRAS	HP:0001595	Abnormal hair morphology
3265	HRAS	HP:0001596	Alopecia
3265	HRAS	HP:0000260	Wide anterior fontanel
3265	HRAS	HP:0000256	Macrocephaly
3265	HRAS	HP:0000267	Cranial asymmetry
3265	HRAS	HP:0001598	Concave nail
3265	HRAS	HP:0000269	Prominent occiput
3265	HRAS	HP:0002816	Genu recurvatum
3265	HRAS	HP:0000238	Hydrocephalus
3265	HRAS	HP:0001582	Redundant skin
3265	HRAS	HP:0001552	Barrel-shaped chest
3265	HRAS	HP:0001548	Overgrowth
3265	HRAS	HP:0002878	Respiratory failure
3265	HRAS	HP:0000218	High palate
3265	HRAS	HP:0002895	Papillary thyroid carcinoma
3265	HRAS	HP:0001561	Polyhydramnios
3265	HRAS	HP:0000232	Everted lower lip vermilion
3265	HRAS	HP:0025510	Nevus spilus
3265	HRAS	HP:0002862	Bladder carcinoma
3265	HRAS	HP:0001531	Failure to thrive in infancy
3265	HRAS	HP:0002859	Rhabdomyosarcoma
3265	HRAS	HP:0001528	Hemihypertrophy
3265	HRAS	HP:0002870	Obstructive sleep apnea
3265	HRAS	HP:0001508	Failure to thrive
3265	HRAS	HP:0001510	Growth delay
3265	HRAS	HP:0011073	Abnormality of dental color
3265	HRAS	HP:0001609	Hoarse voice
3265	HRAS	HP:0006482	Abnormality of dental morphology
3265	HRAS	HP:0000358	Posteriorly rotated ears
3265	HRAS	HP:0000369	Low-set ears
3265	HRAS	HP:0001699	Sudden death
3265	HRAS	HP:0000368	Low-set, posteriorly rotated ears
3265	HRAS	HP:0000343	Long philtrum
3265	HRAS	HP:0000337	Broad forehead
3265	HRAS	HP:0002996	Limited elbow movement
3265	HRAS	HP:0001680	Coarctation of aorta
3265	HRAS	HP:0000347	Micrognathia
3265	HRAS	HP:0000316	Hypertelorism
3265	HRAS	HP:0000311	Round face
3265	HRAS	HP:0001642	Pulmonic stenosis
3265	HRAS	HP:0000324	Facial asymmetry
3265	HRAS	HP:0001629	Ventricular septal defect
3265	HRAS	HP:0001622	Premature birth
3265	HRAS	HP:0001639	Hypertrophic cardiomyopathy
3265	HRAS	HP:0000307	Pointed chin
3265	HRAS	HP:0001631	Atrial septal defect
3265	HRAS	HP:0001634	Mitral valve prolapse
3265	HRAS	HP:0007957	Corneal opacity
3265	HRAS	HP:0005280	Depressed nasal bridge
3265	HRAS	HP:0000486	Strabismus
3265	HRAS	HP:0000478	Abnormality of the eye
3265	HRAS	HP:0000494	Downslanted palpebral fissures
3265	HRAS	HP:0000463	Anteverted nares
3265	HRAS	HP:0000455	Broad nasal tip
3265	HRAS	HP:0000474	Thickened nuchal skin fold
3265	HRAS	HP:0000470	Short neck
3265	HRAS	HP:0000465	Webbed neck
3265	HRAS	HP:0001771	Achilles tendon contracture
3265	HRAS	HP:0001780	Abnormal toe morphology
3265	HRAS	HP:0000418	Narrow nasal ridge
3265	HRAS	HP:0001762	Talipes equinovarus
3265	HRAS	HP:0006740	Transitional cell carcinoma of the bladder
3265	HRAS	HP:0006731	Follicular thyroid carcinoma
3265	HRAS	HP:0030409	Renal transitional cell carcinoma
3265	HRAS	HP:0000506	Telecanthus
3265	HRAS	HP:0000508	Ptosis
3265	HRAS	HP:0000504	Abnormality of vision
3265	HRAS	HP:0000501	Glaucoma
3265	HRAS	HP:0001808	Fragile nails
3265	HRAS	HP:0001800	Hypoplastic toenails
3265	HRAS	HP:0001816	Thin nail
3265	HRAS	HP:0001814	Deep-set nails
3265	HRAS	HP:0012583	Unilateral renal hypoplasia
3265	HRAS	HP:0000589	Coloboma
3265	HRAS	HP:0000563	Keratoconus
3265	HRAS	HP:0011220	Prominent forehead
3265	HRAS	HP:0000568	Microphthalmia
3265	HRAS	HP:0001869	Deep plantar creases
3273	HRG	HP:0000006	Autosomal dominant inheritance
3273	HRG	HP:0003581	Adult onset
3273	HRG	HP:0100724	Hypercoagulability
3273	HRG	HP:0004831	Recurrent thromboembolism
3273	HRG	HP:0001977	Abnormal thrombosis
3273	HRG	HP:0040227	Decreased level of histidine-rich glycoprotein
3284	HSD3B2	HP:0001263	Global developmental delay
3284	HSD3B2	HP:0008730	Female external genitalia in individual with 46,XY karyotype
3284	HSD3B2	HP:0008734	Decreased testicular size
3284	HSD3B2	HP:0008707	Absent scrotum
3284	HSD3B2	HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test
3284	HSD3B2	HP:0008665	Clitoral hypertrophy
3284	HSD3B2	HP:0025380	Increased circulating androstenedione concentration
3284	HSD3B2	HP:0000062	Ambiguous genitalia
3284	HSD3B2	HP:0000061	Ambiguous genitalia, female
3284	HSD3B2	HP:0012041	Decreased fertility in males
3284	HSD3B2	HP:0033809	Increased circulating 17 hydroxypregnenolone concentration
3284	HSD3B2	HP:0000037	Male pseudohermaphroditism
3284	HSD3B2	HP:0000054	Micropenis
3284	HSD3B2	HP:0000051	Perineal hypospadias
3284	HSD3B2	HP:0000048	Bifid scrotum
3284	HSD3B2	HP:0000047	Hypospadias
3284	HSD3B2	HP:0000033	Ambiguous genitalia, male
3284	HSD3B2	HP:0000028	Cryptorchidism
3284	HSD3B2	HP:0000027	Azoospermia
3284	HSD3B2	HP:0000007	Autosomal recessive inheritance
3284	HSD3B2	HP:0002615	Hypotension
3284	HSD3B2	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
3284	HSD3B2	HP:0000127	Renal salt wasting
3284	HSD3B2	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration
3284	HSD3B2	HP:0002013	Vomiting
3284	HSD3B2	HP:0011749	Adrenocorticotropic hormone excess
3284	HSD3B2	HP:0008163	Decreased circulating cortisol level
3284	HSD3B2	HP:0002153	Hyperkalemia
3284	HSD3B2	HP:0008258	Congenital adrenal hyperplasia
3284	HSD3B2	HP:0008221	Adrenal hyperplasia
3284	HSD3B2	HP:0034589	Increased circulating dehydroepiandrosterone-sulfate concentration
3284	HSD3B2	HP:0003577	Congenital onset
3284	HSD3B2	HP:0001007	Hirsutism
3284	HSD3B2	HP:0001944	Dehydration
3284	HSD3B2	HP:0001998	Neonatal hypoglycemia
3284	HSD3B2	HP:0004319	Decreased circulating aldosterone level
3284	HSD3B2	HP:0000808	Penoscrotal hypospadias
3284	HSD3B2	HP:0000771	Gynecomastia
3284	HSD3B2	HP:0012768	Neonatal asphyxia
3284	HSD3B2	HP:0012853	Scrotal hypospadias
3284	HSD3B2	HP:0000848	Increased circulating renin level
3284	HSD3B2	HP:0000846	Adrenal insufficiency
3284	HSD3B2	HP:0012881	Abnormal labia majora morphology
3284	HSD3B2	HP:0000953	Hyperpigmentation of the skin
3284	HSD3B2	HP:0040171	Decreased serum testosterone concentration
3284	HSD3B2	HP:0030088	Increased serum testosterone level
3284	HSD3B2	HP:0001508	Failure to thrive
3284	HSD3B2	HP:0002902	Hyponatremia
3284	HSD3B2	HP:0030260	Microphallus
3284	HSD3B2	HP:0012411	Premature pubarche
3284	HSD3B2	HP:0012412	Premature adrenarche
3290	HSD11B1	HP:0000006	Autosomal dominant inheritance
3290	HSD11B1	HP:0003621	Juvenile onset
3290	HSD11B1	HP:0005616	Accelerated skeletal maturation
3290	HSD11B1	HP:0000855	Insulin resistance
3290	HSD11B1	HP:0000956	Acanthosis nigricans
3290	HSD11B1	HP:0001513	Obesity
3290	HSD11B1	HP:0012411	Premature pubarche
3291	HSD11B2	HP:0001297	Stroke
3291	HSD11B2	HP:0000083	Renal insufficiency
3291	HSD11B2	HP:0000007	Autosomal recessive inheritance
3291	HSD11B2	HP:0000121	Nephrocalcinosis
3291	HSD11B2	HP:0003351	Decreased circulating renin level
3291	HSD11B2	HP:0011731	Abnormality of circulating cortisol level
3291	HSD11B2	HP:0200114	Metabolic alkalosis
3291	HSD11B2	HP:0001095	Hypertensive retinopathy
3291	HSD11B2	HP:0012606	Renal sodium wasting
3291	HSD11B2	HP:0012603	Abnormal urine sodium concentration
3291	HSD11B2	HP:0001960	Hypokalemic metabolic alkalosis
3291	HSD11B2	HP:0001959	Polydipsia
3291	HSD11B2	HP:0004322	Short stature
3291	HSD11B2	HP:0004319	Decreased circulating aldosterone level
3291	HSD11B2	HP:0011463	Childhood onset
3291	HSD11B2	HP:0000822	Hypertension
3291	HSD11B2	HP:0001508	Failure to thrive
3291	HSD11B2	HP:0001518	Small for gestational age
3291	HSD11B2	HP:0001511	Intrauterine growth retardation
3291	HSD11B2	HP:0001510	Growth delay
3291	HSD11B2	HP:0002900	Hypokalemia
3291	HSD11B2	HP:0001712	Left ventricular hypertrophy
3293	HSD17B3	HP:0008730	Female external genitalia in individual with 46,XY karyotype
3293	HSD17B3	HP:0000062	Ambiguous genitalia
3293	HSD17B3	HP:0000044	Hypogonadotropic hypogonadism
3293	HSD17B3	HP:0000037	Male pseudohermaphroditism
3293	HSD17B3	HP:0000028	Cryptorchidism
3293	HSD17B3	HP:0000007	Autosomal recessive inheritance
3293	HSD17B3	HP:0001939	Abnormality of metabolism/homeostasis
3293	HSD17B3	HP:0000771	Gynecomastia
3293	HSD17B3	HP:0000795	Abnormality of the urethra
3293	HSD17B3	HP:0000789	Infertility
3293	HSD17B3	HP:0000821	Hypothyroidism
3295	HSD17B4	HP:0001171	Split hand
3295	HSD17B4	HP:0007266	Cerebral dysmyelination
3295	HSD17B4	HP:0001272	Cerebellar atrophy
3295	HSD17B4	HP:0001270	Motor delay
3295	HSD17B4	HP:0001284	Areflexia
3295	HSD17B4	HP:0001256	Intellectual disability, mild
3295	HSD17B4	HP:0001250	Seizure
3295	HSD17B4	HP:0001252	Hypotonia
3295	HSD17B4	HP:0001251	Ataxia
3295	HSD17B4	HP:0001265	Hyporeflexia
3295	HSD17B4	HP:0001264	Spastic diplegia
3295	HSD17B4	HP:0001260	Dysarthria
3295	HSD17B4	HP:0001263	Global developmental delay
3295	HSD17B4	HP:0007371	Corpus callosum atrophy
3295	HSD17B4	HP:0002539	Cortical dysplasia
3295	HSD17B4	HP:0033643	Increased circulating very long-chain fatty acid concentration
3295	HSD17B4	HP:0001397	Hepatic steatosis
3295	HSD17B4	HP:0001396	Cholestasis
3295	HSD17B4	HP:0008872	Feeding difficulties in infancy
3295	HSD17B4	HP:0000007	Autosomal recessive inheritance
3295	HSD17B4	HP:0002650	Scoliosis
3295	HSD17B4	HP:0001319	Neonatal hypotonia
3295	HSD17B4	HP:0000133	Gonadal dysgenesis
3295	HSD17B4	HP:0000107	Renal cyst
3295	HSD17B4	HP:0001408	Bile duct proliferation
3295	HSD17B4	HP:0002750	Delayed skeletal maturation
3295	HSD17B4	HP:0002007	Frontal bossing
3295	HSD17B4	HP:0002080	Intention tremor
3295	HSD17B4	HP:0002069	Bilateral tonic-clonic seizure
3295	HSD17B4	HP:0002066	Gait ataxia
3295	HSD17B4	HP:0002079	Hypoplasia of the corpus callosum
3295	HSD17B4	HP:0008167	Very long chain fatty acid accumulation
3295	HSD17B4	HP:0002119	Ventriculomegaly
3295	HSD17B4	HP:0002126	Polymicrogyria
3295	HSD17B4	HP:0002171	Gliosis
3295	HSD17B4	HP:0008207	Primary adrenal insufficiency
3295	HSD17B4	HP:0002240	Hepatomegaly
3295	HSD17B4	HP:0007141	Sensorimotor neuropathy
3295	HSD17B4	HP:0003623	Neonatal onset
3295	HSD17B4	HP:0006872	Cerebral hypoplasia
3295	HSD17B4	HP:0000639	Nystagmus
3295	HSD17B4	HP:0004322	Short stature
3295	HSD17B4	HP:0000767	Pectus excavatum
3295	HSD17B4	HP:0000762	Decreased nerve conduction velocity
3295	HSD17B4	HP:0000786	Primary amenorrhea
3295	HSD17B4	HP:0030799	Scaphocephaly
3295	HSD17B4	HP:0003199	Decreased muscle mass
3295	HSD17B4	HP:0000837	Increased circulating gonadotropin level
3295	HSD17B4	HP:0000939	Osteoporosis
3295	HSD17B4	HP:0000938	Osteopenia
3295	HSD17B4	HP:0033044	Motor regression
3295	HSD17B4	HP:0000286	Epicanthus
3295	HSD17B4	HP:0000278	Retrognathia
3295	HSD17B4	HP:0000256	Macrocephaly
3295	HSD17B4	HP:0000270	Delayed cranial suture closure
3295	HSD17B4	HP:0000268	Dolichocephaly
3295	HSD17B4	HP:0000239	Large fontanelles
3295	HSD17B4	HP:0000218	High palate
3295	HSD17B4	HP:0001561	Polyhydramnios
3295	HSD17B4	HP:0001508	Failure to thrive
3295	HSD17B4	HP:0002832	Calcific stippling
3295	HSD17B4	HP:0005257	Thoracic hypoplasia
3295	HSD17B4	HP:0002910	Elevated hepatic transaminase
3295	HSD17B4	HP:0000365	Hearing impairment
3295	HSD17B4	HP:0000369	Low-set ears
3295	HSD17B4	HP:0000343	Long philtrum
3295	HSD17B4	HP:0000348	High forehead
3295	HSD17B4	HP:0000347	Micrognathia
3295	HSD17B4	HP:0000316	Hypertelorism
3295	HSD17B4	HP:0007941	Limited extraocular movements
3295	HSD17B4	HP:0000407	Sensorineural hearing impairment
3295	HSD17B4	HP:0005280	Depressed nasal bridge
3295	HSD17B4	HP:0000486	Strabismus
3295	HSD17B4	HP:0001791	Fetal ascites
3295	HSD17B4	HP:0001765	Hammertoe
3295	HSD17B4	HP:0001744	Splenomegaly
3295	HSD17B4	HP:0001762	Talipes equinovarus
3295	HSD17B4	HP:0001761	Pes cavus
3295	HSD17B4	HP:0000582	Upslanted palpebral fissure
3295	HSD17B4	HP:0000572	Visual loss
3295	HSD17B4	HP:0000550	Undetectable electroretinogram
3299	HSF4	HP:0001134	Anterior polar cataract
3299	HSF4	HP:0010920	Zonular cataract
3299	HSF4	HP:0000006	Autosomal dominant inheritance
3299	HSF4	HP:0010693	Pulverulent cataract
3299	HSF4	HP:0100018	Nuclear cataract
3299	HSF4	HP:0007971	Lamellar cataract
3300	DNAJB2	HP:0002460	Distal muscle weakness
3300	DNAJB2	HP:0007269	Spinal muscular atrophy
3300	DNAJB2	HP:0001288	Gait disturbance
3300	DNAJB2	HP:0001284	Areflexia
3300	DNAJB2	HP:0000007	Autosomal recessive inheritance
3300	DNAJB2	HP:0008944	Distal lower limb amyotrophy
3300	DNAJB2	HP:0003677	Slowly progressive
3300	DNAJB2	HP:0009027	Foot dorsiflexor weakness
3300	DNAJB2	HP:0011462	Young adult onset
3300	DNAJB2	HP:0002936	Distal sensory impairment
3300	DNAJB2	HP:0001618	Dysphonia
3300	DNAJB2	HP:0001761	Pes cavus
3313	HSPA9	HP:0008551	Microtia
3313	HSPA9	HP:0001274	Agenesis of corpus callosum
3313	HSPA9	HP:0001263	Global developmental delay
3313	HSPA9	HP:0002553	Highly arched eyebrow
3313	HSPA9	HP:0000089	Renal hypoplasia
3313	HSPA9	HP:0000076	Vesicoureteral reflux
3313	HSPA9	HP:0002656	Epiphyseal dysplasia
3313	HSPA9	HP:0000010	Recurrent urinary tract infections
3313	HSPA9	HP:0000007	Autosomal recessive inheritance
3313	HSPA9	HP:0000006	Autosomal dominant inheritance
3313	HSPA9	HP:0002023	Anal atresia
3313	HSPA9	HP:0011800	Midface retrusion
3313	HSPA9	HP:0003417	Coronal cleft vertebrae
3313	HSPA9	HP:0010575	Dysplasia of the femoral head
3313	HSPA9	HP:0003510	Severe short stature
3313	HSPA9	HP:0004828	Refractory anemia with ringed sideroblasts
3313	HSPA9	HP:0001057	Aplasia cutis congenita
3313	HSPA9	HP:0001047	Atopic dermatitis
3313	HSPA9	HP:0008428	Vertebral clefting
3313	HSPA9	HP:0001924	Sideroblastic anemia
3313	HSPA9	HP:0000668	Hypodontia
3313	HSPA9	HP:0000664	Synophrys
3313	HSPA9	HP:0006989	Dysplastic corpus callosum
3313	HSPA9	HP:0003196	Short nose
3313	HSPA9	HP:0008070	Sparse hair
3313	HSPA9	HP:0000248	Brachycephaly
3313	HSPA9	HP:0000218	High palate
3313	HSPA9	HP:0001562	Oligohydramnios
3313	HSPA9	HP:0001655	Patent foramen ovale
3313	HSPA9	HP:0001631	Atrial septal defect
3313	HSPA9	HP:0000457	Depressed nasal ridge
3313	HSPA9	HP:0000456	Bifid nasal tip
3313	HSPA9	HP:0000470	Short neck
3313	HSPA9	HP:0000518	Cataract
3313	HSPA9	HP:0001877	Abnormal erythrocyte morphology
3315	HSPB1	HP:0001178	Ulnar claw
3315	HSPB1	HP:0002460	Distal muscle weakness
3315	HSPB1	HP:0007328	Impaired pain sensation
3315	HSPB1	HP:0007289	Limb fasciculations
3315	HSPB1	HP:0007267	Chronic axonal neuropathy
3315	HSPB1	HP:0007340	Lower limb muscle weakness
3315	HSPB1	HP:0002522	Areflexia of lower limbs
3315	HSPB1	HP:0000006	Autosomal dominant inheritance
3315	HSPB1	HP:0001315	Reduced tendon reflexes
3315	HSPB1	HP:0002601	Paresis of extensor muscles of the big toe
3315	HSPB1	HP:0002600	Hyporeflexia of lower limbs
3315	HSPB1	HP:0008944	Distal lower limb amyotrophy
3315	HSPB1	HP:0003394	Muscle spasm
3315	HSPB1	HP:0003376	Steppage gait
3315	HSPB1	HP:0003477	Peripheral axonal neuropathy
3315	HSPB1	HP:0003470	Paralysis
3315	HSPB1	HP:0003431	Decreased motor nerve conduction velocity
3315	HSPB1	HP:0003444	EMG: chronic denervation signs
3315	HSPB1	HP:0003445	EMG: neuropathic changes
3315	HSPB1	HP:0003596	Middle age onset
3315	HSPB1	HP:0003584	Late onset
3315	HSPB1	HP:0003581	Adult onset
3315	HSPB1	HP:0002380	Fasciculations
3315	HSPB1	HP:0002355	Difficulty walking
3315	HSPB1	HP:0003677	Slowly progressive
3315	HSPB1	HP:0010829	Impaired temperature sensation
3315	HSPB1	HP:0009830	Peripheral neuropathy
3315	HSPB1	HP:0009053	Distal lower limb muscle weakness
3315	HSPB1	HP:0009027	Foot dorsiflexor weakness
3315	HSPB1	HP:0009129	Upper limb amyotrophy
3315	HSPB1	HP:0034337	Claw hand deformity
3315	HSPB1	HP:0012391	Hyporeflexia of upper limbs
3315	HSPB1	HP:0002936	Distal sensory impairment
3315	HSPB1	HP:0025710	Late young adult onset
3315	HSPB1	HP:0001762	Talipes equinovarus
3315	HSPB1	HP:0001761	Pes cavus
3321	IGSF3	HP:0009926	Epiphora
3321	IGSF3	HP:0000007	Autosomal recessive inheritance
3321	IGSF3	HP:0100539	Periorbital edema
3321	IGSF3	HP:0000620	Dacryocystitis
3321	IGSF3	HP:0030752	Dacryocystocele
3321	IGSF3	HP:0000246	Sinusitis
3321	IGSF3	HP:0000509	Conjunctivitis
3321	IGSF3	HP:0000564	Lacrimal duct atresia
3329	HSPD1	HP:0007256	Abnormal pyramidal sign
3329	HSPD1	HP:0002421	Poor head control
3329	HSPD1	HP:0002415	Leukodystrophy
3329	HSPD1	HP:0002599	Head titubation
3329	HSPD1	HP:0001250	Seizure
3329	HSPD1	HP:0001252	Hypotonia
3329	HSPD1	HP:0001266	Choreoathetosis
3329	HSPD1	HP:0001263	Global developmental delay
3329	HSPD1	HP:0001258	Spastic paraplegia
3329	HSPD1	HP:0007350	Hyperreflexia in upper limbs
3329	HSPD1	HP:0007340	Lower limb muscle weakness
3329	HSPD1	HP:0001371	Flexion contracture
3329	HSPD1	HP:0000020	Urinary incontinence
3329	HSPD1	HP:0001347	Hyperreflexia
3329	HSPD1	HP:0008872	Feeding difficulties in infancy
3329	HSPD1	HP:0000012	Urinary urgency
3329	HSPD1	HP:0000007	Autosomal recessive inheritance
3329	HSPD1	HP:0000006	Autosomal dominant inheritance
3329	HSPD1	HP:0002650	Scoliosis
3329	HSPD1	HP:0002064	Spastic gait
3329	HSPD1	HP:0002061	Lower limb spasticity
3329	HSPD1	HP:0003487	Babinski sign
3329	HSPD1	HP:0002151	Increased serum lactate
3329	HSPD1	HP:0002104	Apnea
3329	HSPD1	HP:0002187	Intellectual disability, profound
3329	HSPD1	HP:0002191	Progressive spasticity
3329	HSPD1	HP:0002166	Impaired vibration sensation in the lower limbs
3329	HSPD1	HP:0003676	Progressive
3329	HSPD1	HP:0003623	Neonatal onset
3329	HSPD1	HP:0000639	Nystagmus
3329	HSPD1	HP:0003219	Ethylmalonic aciduria
3329	HSPD1	HP:0002839	Urinary bladder sphincter dysfunction
3329	HSPD1	HP:0000365	Hearing impairment
3329	HSPD1	HP:0000486	Strabismus
3329	HSPD1	HP:0001761	Pes cavus
3329	HSPD1	HP:0005484	Secondary microcephaly
3329	HSPD1	HP:0000510	Rod-cone dystrophy
3339	HSPG2	HP:0002486	Myotonia
3339	HSPG2	HP:0001156	Brachydactyly
3339	HSPG2	HP:0002465	Poor speech
3339	HSPG2	HP:0001107	Ocular albinism
3339	HSPG2	HP:0001195	Single umbilical artery
3339	HSPG2	HP:0008551	Microtia
3339	HSPG2	HP:0003731	Quadriceps muscle weakness
3339	HSPG2	HP:0003712	Skeletal muscle hypertrophy
3339	HSPG2	HP:0100813	Testicular torsion
3339	HSPG2	HP:0001276	Hypertonia
3339	HSPG2	HP:0001274	Agenesis of corpus callosum
3339	HSPG2	HP:0001288	Gait disturbance
3339	HSPG2	HP:0001250	Seizure
3339	HSPG2	HP:0001252	Hypotonia
3339	HSPG2	HP:0001249	Intellectual disability
3339	HSPG2	HP:0001265	Hyporeflexia
3339	HSPG2	HP:0002591	Polyphagia
3339	HSPG2	HP:0001263	Global developmental delay
3339	HSPG2	HP:0001239	Wrist flexion contracture
3339	HSPG2	HP:0008734	Decreased testicular size
3339	HSPG2	HP:0008736	Hypoplasia of penis
3339	HSPG2	HP:0010978	Abnormality of immune system physiology
3339	HSPG2	HP:0002515	Waddling gait
3339	HSPG2	HP:0003811	Neonatal death
3339	HSPG2	HP:0001397	Hepatic steatosis
3339	HSPG2	HP:0001392	Abnormality of the liver
3339	HSPG2	HP:0000077	Abnormality of the kidney
3339	HSPG2	HP:0000079	Abnormality of the urinary system
3339	HSPG2	HP:0000069	Abnormality of the ureter
3339	HSPG2	HP:0001374	Congenital hip dislocation
3339	HSPG2	HP:0001376	Limitation of joint mobility
3339	HSPG2	HP:0001371	Flexion contracture
3339	HSPG2	HP:0000055	Abnormality of female external genitalia
3339	HSPG2	HP:0001385	Hip dysplasia
3339	HSPG2	HP:0001387	Joint stiffness
3339	HSPG2	HP:0000047	Hypospadias
3339	HSPG2	HP:0000023	Inguinal hernia
3339	HSPG2	HP:0001362	Calvarial skull defect
3339	HSPG2	HP:0000028	Cryptorchidism
3339	HSPG2	HP:0008873	Disproportionate short-limb short stature
3339	HSPG2	HP:0008872	Feeding difficulties in infancy
3339	HSPG2	HP:0001324	Muscle weakness
3339	HSPG2	HP:0001344	Absent speech
3339	HSPG2	HP:0002673	Coxa valga
3339	HSPG2	HP:0000007	Autosomal recessive inheritance
3339	HSPG2	HP:0002652	Skeletal dysplasia
3339	HSPG2	HP:0002650	Scoliosis
3339	HSPG2	HP:0002645	Wormian bones
3339	HSPG2	HP:0000160	Narrow mouth
3339	HSPG2	HP:0000175	Cleft palate
3339	HSPG2	HP:0000135	Hypogonadism
3339	HSPG2	HP:0000119	Abnormality of the genitourinary system
3339	HSPG2	HP:0000126	Hydronephrosis
3339	HSPG2	HP:0032548	Increased placental thickness
3339	HSPG2	HP:0000107	Renal cyst
3339	HSPG2	HP:0002751	Kyphoscoliosis
3339	HSPG2	HP:0002750	Delayed skeletal maturation
3339	HSPG2	HP:0002715	Abnormality of the immune system
3339	HSPG2	HP:0002021	Pyloric stenosis
3339	HSPG2	HP:0002020	Gastroesophageal reflux
3339	HSPG2	HP:0002019	Constipation
3339	HSPG2	HP:0002002	Deep philtrum
3339	HSPG2	HP:0003326	Myalgia
3339	HSPG2	HP:0002015	Dysphagia
3339	HSPG2	HP:0002007	Frontal bossing
3339	HSPG2	HP:0003307	Hyperlordosis
3339	HSPG2	HP:0003306	Spinal rigidity
3339	HSPG2	HP:0011800	Midface retrusion
3339	HSPG2	HP:0002089	Pulmonary hypoplasia
3339	HSPG2	HP:0002085	Occipital encephalocele
3339	HSPG2	HP:0002084	Encephalocele
3339	HSPG2	HP:0002092	Pulmonary arterial hypertension
3339	HSPG2	HP:0002093	Respiratory insufficiency
3339	HSPG2	HP:0100559	Lower limb asymmetry
3339	HSPG2	HP:0002047	Malignant hyperthermia
3339	HSPG2	HP:0100569	Abnormally ossified vertebrae
3339	HSPG2	HP:0005930	Abnormal epiphysis morphology
3339	HSPG2	HP:0009473	Joint contracture of the hand
3339	HSPG2	HP:0002120	Cerebral cortical atrophy
3339	HSPG2	HP:0002119	Ventriculomegaly
3339	HSPG2	HP:0003457	EMG abnormality
3339	HSPG2	HP:0002104	Apnea
3339	HSPG2	HP:0003417	Coronal cleft vertebrae
3339	HSPG2	HP:0003416	Spinal canal stenosis
3339	HSPG2	HP:0002167	Abnormality of speech or vocalization
3339	HSPG2	HP:0100490	Camptodactyly of finger
3339	HSPG2	HP:0010548	Percussion myotonia
3339	HSPG2	HP:0010508	Metatarsus valgus
3339	HSPG2	HP:0003593	Infantile onset
3339	HSPG2	HP:0003577	Congenital onset
3339	HSPG2	HP:0002242	Abnormal intestine morphology
3339	HSPG2	HP:0100716	Self-injurious behavior
3339	HSPG2	HP:0003552	Muscle stiffness
3339	HSPG2	HP:0002230	Generalized hirsutism
3339	HSPG2	HP:0009743	Distichiasis
3339	HSPG2	HP:0100795	Abnormally straight spine
3339	HSPG2	HP:0100759	Clubbing of fingers
3339	HSPG2	HP:0007018	Attention deficit hyperactivity disorder
3339	HSPG2	HP:0003510	Severe short stature
3339	HSPG2	HP:0001059	Pterygium
3339	HSPG2	HP:0001009	Telangiectasia
3339	HSPG2	HP:0001007	Hirsutism
3339	HSPG2	HP:0002353	EEG abnormality
3339	HSPG2	HP:0009826	Limb undergrowth
3339	HSPG2	HP:0100612	Odontogenic neoplasm
3339	HSPG2	HP:0001083	Ectopia lentis
3339	HSPG2	HP:0008499	High hypermetropia
3339	HSPG2	HP:0004209	Clinodactyly of the 5th finger
3339	HSPG2	HP:0006824	Cranial nerve paralysis
3339	HSPG2	HP:0000639	Nystagmus
3339	HSPG2	HP:0000648	Optic atrophy
3339	HSPG2	HP:0000643	Blepharospasm
3339	HSPG2	HP:0000600	Abnormality of the pharynx
3339	HSPG2	HP:0000689	Dental malocclusion
3339	HSPG2	HP:0004325	Decreased body weight
3339	HSPG2	HP:0004322	Short stature
3339	HSPG2	HP:0004326	Cachexia
3339	HSPG2	HP:0005622	Broad long bones
3339	HSPG2	HP:0030680	Abnormality of cardiovascular system morphology
3339	HSPG2	HP:0004378	Abnormality of the anus
3339	HSPG2	HP:0003044	Shoulder flexion contracture
3339	HSPG2	HP:0004374	Hemiplegia/hemiparesis
3339	HSPG2	HP:0003042	Elbow dislocation
3339	HSPG2	HP:0003016	Metaphyseal widening
3339	HSPG2	HP:0003006	Neuroblastoma
3339	HSPG2	HP:0003026	Short long bone
3339	HSPG2	HP:0000772	Abnormal rib morphology
3339	HSPG2	HP:0012733	Macule
3339	HSPG2	HP:0000767	Pectus excavatum
3339	HSPG2	HP:0000768	Pectus carinatum
3339	HSPG2	HP:0000737	Irritability
3339	HSPG2	HP:0000739	Anxiety
3339	HSPG2	HP:0000733	Abnormal repetitive mannerisms
3339	HSPG2	HP:0000750	Delayed speech and language development
3339	HSPG2	HP:0000717	Autism
3339	HSPG2	HP:0000708	Atypical behavior
3339	HSPG2	HP:0011463	Childhood onset
3339	HSPG2	HP:0000774	Narrow chest
3339	HSPG2	HP:0000773	Short ribs
3339	HSPG2	HP:0000787	Nephrolithiasis
3339	HSPG2	HP:0003198	Myopathy
3339	HSPG2	HP:0000912	Sprengel anomaly
3339	HSPG2	HP:0000926	Platyspondyly
3339	HSPG2	HP:0003179	Protrusio acetabuli
3339	HSPG2	HP:0003177	Squared iliac bones
3339	HSPG2	HP:0003175	Hypoplastic ischia
3339	HSPG2	HP:0003173	Hypoplastic pubic bone
3339	HSPG2	HP:0000902	Rib fusion
3339	HSPG2	HP:0000878	11 pairs of ribs
3339	HSPG2	HP:0000892	Bifid ribs
3339	HSPG2	HP:0000821	Hypothyroidism
3339	HSPG2	HP:0040064	Abnormality of limbs
3339	HSPG2	HP:0003236	Elevated circulating creatine kinase concentration
3339	HSPG2	HP:0003202	Skeletal muscle atrophy
3339	HSPG2	HP:0005830	Flexion contracture of toe
3339	HSPG2	HP:0003273	Hip contracture
3339	HSPG2	HP:0100284	EMG: myotonic discharges
3339	HSPG2	HP:0000939	Osteoporosis
3339	HSPG2	HP:0045025	Narrow palpebral fissure
3339	HSPG2	HP:0000946	Hypoplastic ilia
3339	HSPG2	HP:0000944	Abnormal metaphysis morphology
3339	HSPG2	HP:0008066	Abnormal blistering of the skin
3339	HSPG2	HP:0008056	Aplasia/Hypoplasia affecting the eye
3339	HSPG2	HP:0011675	Arrhythmia
3339	HSPG2	HP:0000286	Epicanthus
3339	HSPG2	HP:0000298	Mask-like facies
3339	HSPG2	HP:0000293	Full cheeks
3339	HSPG2	HP:0000294	Low anterior hairline
3339	HSPG2	HP:0000270	Delayed cranial suture closure
3339	HSPG2	HP:0000272	Malar flattening
3339	HSPG2	HP:0006473	Anterior bowing of long bones
3339	HSPG2	HP:0005113	Aortic arch aneurysm
3339	HSPG2	HP:0007740	Long eyelashes in irregular rows
3339	HSPG2	HP:0002812	Coxa vara
3339	HSPG2	HP:0002808	Kyphosis
3339	HSPG2	HP:0002804	Arthrogryposis multiplex congenita
3339	HSPG2	HP:0000238	Hydrocephalus
3339	HSPG2	HP:0000252	Microcephaly
3339	HSPG2	HP:0000248	Brachycephaly
3339	HSPG2	HP:0001548	Overgrowth
3339	HSPG2	HP:0002879	Anisospondyly
3339	HSPG2	HP:0000218	High palate
3339	HSPG2	HP:0001561	Polyhydramnios
3339	HSPG2	HP:0000232	Everted lower lip vermilion
3339	HSPG2	HP:0001557	Prenatal movement abnormality
3339	HSPG2	HP:0002857	Genu valgum
3339	HSPG2	HP:0001522	Death in infancy
3339	HSPG2	HP:0000211	Trismus
3339	HSPG2	HP:0001537	Umbilical hernia
3339	HSPG2	HP:0000205	Pursed lips
3339	HSPG2	HP:0001508	Failure to thrive
3339	HSPG2	HP:0001513	Obesity
3339	HSPG2	HP:0011069	Supernumerary tooth
3339	HSPG2	HP:0012368	Flat face
3339	HSPG2	HP:0000396	Overfolded helix
3339	HSPG2	HP:0005257	Thoracic hypoplasia
3339	HSPG2	HP:0005268	Miscarriage
3339	HSPG2	HP:0002938	Lumbar hyperlordosis
3339	HSPG2	HP:0001601	Laryngomalacia
3339	HSPG2	HP:0001618	Dysphonia
3339	HSPG2	HP:0002947	Cervical kyphosis
3339	HSPG2	HP:0006499	Abnormal femoral epiphysis morphology
3339	HSPG2	HP:0006487	Bowing of the long bones
3339	HSPG2	HP:0000358	Posteriorly rotated ears
3339	HSPG2	HP:0000369	Low-set ears
3339	HSPG2	HP:0000368	Low-set, posteriorly rotated ears
3339	HSPG2	HP:0001671	Abnormal cardiac septum morphology
3339	HSPG2	HP:0000343	Long philtrum
3339	HSPG2	HP:0011001	Increased bone mineral density
3339	HSPG2	HP:0000347	Micrognathia
3339	HSPG2	HP:0002983	Micromelia
3339	HSPG2	HP:0002979	Bowing of the legs
3339	HSPG2	HP:0000316	Hypertelorism
3339	HSPG2	HP:0001643	Patent ductus arteriosus
3339	HSPG2	HP:0001644	Dilated cardiomyopathy
3339	HSPG2	HP:0001654	Abnormal heart valve morphology
3339	HSPG2	HP:0001627	Abnormal heart morphology
3339	HSPG2	HP:0001621	Weak voice
3339	HSPG2	HP:0001620	High pitched voice
3339	HSPG2	HP:0001636	Tetralogy of Fallot
3339	HSPG2	HP:0000307	Pointed chin
3339	HSPG2	HP:0000407	Sensorineural hearing impairment
3339	HSPG2	HP:0001734	Annular pancreas
3339	HSPG2	HP:0000405	Conductive hearing impairment
3339	HSPG2	HP:0005280	Depressed nasal bridge
3339	HSPG2	HP:0000486	Strabismus
3339	HSPG2	HP:0000482	Microcornea
3339	HSPG2	HP:0000490	Deeply set eye
3339	HSPG2	HP:0000464	Abnormality of the neck
3339	HSPG2	HP:0011120	Concave nasal ridge
3339	HSPG2	HP:0001789	Hydrops fetalis
3339	HSPG2	HP:0000457	Depressed nasal ridge
3339	HSPG2	HP:0000470	Short neck
3339	HSPG2	HP:0001773	Short foot
3339	HSPG2	HP:0001763	Pes planus
3339	HSPG2	HP:0001743	Abnormality of the spleen
3339	HSPG2	HP:0001762	Talipes equinovarus
3339	HSPG2	HP:0000431	Wide nasal bridge
3339	HSPG2	HP:0000426	Prominent nasal bridge
3339	HSPG2	HP:0000518	Cataract
3339	HSPG2	HP:0000519	Developmental cataract
3339	HSPG2	HP:0000520	Proptosis
3339	HSPG2	HP:0001829	Foot polydactyly
3339	HSPG2	HP:0000508	Ptosis
3339	HSPG2	HP:0000505	Visual impairment
3339	HSPG2	HP:0000504	Abnormality of vision
3339	HSPG2	HP:0000581	Blepharophimosis
3339	HSPG2	HP:0011228	Horizontal eyebrow
3339	HSPG2	HP:0012544	Elevated circulating aldolase concentration
3339	HSPG2	HP:0000534	Abnormal eyebrow morphology
3339	HSPG2	HP:0000545	Myopia
3340	NDST1	HP:0002465	Poor speech
3340	NDST1	HP:0010862	Delayed fine motor development
3340	NDST1	HP:0001250	Seizure
3340	NDST1	HP:0001252	Hypotonia
3340	NDST1	HP:0001251	Ataxia
3340	NDST1	HP:0001249	Intellectual disability
3340	NDST1	HP:0001263	Global developmental delay
3340	NDST1	HP:0000007	Autosomal recessive inheritance
3340	NDST1	HP:0002119	Ventriculomegaly
3340	NDST1	HP:0002194	Delayed gross motor development
3340	NDST1	HP:0003593	Infantile onset
3340	NDST1	HP:0100716	Self-injurious behavior
3340	NDST1	HP:0002360	Sleep disturbance
3340	NDST1	HP:0000639	Nystagmus
3340	NDST1	HP:0000687	Widely spaced teeth
3340	NDST1	HP:0000664	Synophrys
3340	NDST1	HP:0004322	Short stature
3340	NDST1	HP:0000750	Delayed speech and language development
3340	NDST1	HP:0000718	Aggressive behavior
3340	NDST1	HP:0000713	Agitation
3340	NDST1	HP:0011463	Childhood onset
3340	NDST1	HP:0000286	Epicanthus
3340	NDST1	HP:0001520	Large for gestational age
3340	NDST1	HP:0001510	Growth delay
3340	NDST1	HP:0000303	Mandibular prognathia
3340	NDST1	HP:0000486	Strabismus
3340	NDST1	HP:0001763	Pes planus
3340	NDST1	HP:0000411	Protruding ear
3350	HTR1A	HP:0000006	Autosomal dominant inheritance
3350	HTR1A	HP:0002076	Migraine
3350	HTR1A	HP:0200067	Recurrent spontaneous abortion
3350	HTR1A	HP:0001945	Fever
3350	HTR1A	HP:0003118	Increased circulating cortisol level
3356	HTR2A	HP:0410291	Negativism
3356	HTR2A	HP:0010982	Polygenic inheritance
3356	HTR2A	HP:0000006	Autosomal dominant inheritance
3356	HTR2A	HP:0012166	Skin-picking
3356	HTR2A	HP:0001426	Multifactorial inheritance
3356	HTR2A	HP:0030955	Alcoholism
3356	HTR2A	HP:0100753	Schizophrenia
3356	HTR2A	HP:0007086	Social and occupational deterioration
3356	HTR2A	HP:0002353	EEG abnormality
3356	HTR2A	HP:0000738	Hallucinations
3356	HTR2A	HP:0000739	Anxiety
3356	HTR2A	HP:0000746	Delusions
3356	HTR2A	HP:0000716	Depression
3356	HTR2A	HP:0030212	Collectionism
3371	TNC	HP:0000006	Autosomal dominant inheritance
3371	TNC	HP:0003621	Juvenile onset
3371	TNC	HP:0011462	Young adult onset
3371	TNC	HP:0000407	Sensorineural hearing impairment
3371	TNC	HP:0001751	Abnormal vestibular function
3373	HYAL1	HP:0033640	Acetabular erosions
3373	HYAL1	HP:0006094	Finger joint hypermobility
3373	HYAL1	HP:0000007	Autosomal recessive inheritance
3373	HYAL1	HP:0000193	Bifid uvula
3373	HYAL1	HP:0000176	Submucous cleft hard palate
3373	HYAL1	HP:0004626	Lumbar scoliosis
3373	HYAL1	HP:0010485	Hyperextensibility at elbow
3373	HYAL1	HP:0100769	Synovitis
3373	HYAL1	HP:0032072	Popliteal synovial cyst
3373	HYAL1	HP:0020127	Periarticular soft-tissue mass
3373	HYAL1	HP:0003621	Juvenile onset
3373	HYAL1	HP:0004322	Short stature
3373	HYAL1	HP:0011463	Childhood onset
3373	HYAL1	HP:0003170	Abnormal acetabulum morphology
3373	HYAL1	HP:0030839	Knee pain
3373	HYAL1	HP:0030838	Hip pain
3373	HYAL1	HP:0030840	Ankle pain
3373	HYAL1	HP:0000934	Chondrocalcinosis
3373	HYAL1	HP:0005072	Hyperextensibility at wrists
3373	HYAL1	HP:0000403	Recurrent otitis media
3373	HYAL1	HP:0005280	Depressed nasal bridge
3376	IARS1	HP:0001290	Generalized hypotonia
3376	IARS1	HP:0001250	Seizure
3376	IARS1	HP:0001252	Hypotonia
3376	IARS1	HP:0001249	Intellectual disability
3376	IARS1	HP:0001263	Global developmental delay
3376	IARS1	HP:0001257	Spasticity
3376	IARS1	HP:0410263	Brain imaging abnormality
3376	IARS1	HP:0003828	Variable expressivity
3376	IARS1	HP:0000081	Duplicated collecting system
3376	IARS1	HP:0001397	Hepatic steatosis
3376	IARS1	HP:0001396	Cholestasis
3376	IARS1	HP:0001399	Hepatic failure
3376	IARS1	HP:0001395	Hepatic fibrosis
3376	IARS1	HP:0001388	Joint laxity
3376	IARS1	HP:0008897	Postnatal growth retardation
3376	IARS1	HP:0006129	Drumstick terminal phalanges
3376	IARS1	HP:0001344	Absent speech
3376	IARS1	HP:0000007	Autosomal recessive inheritance
3376	IARS1	HP:0000126	Hydronephrosis
3376	IARS1	HP:0001433	Hepatosplenomegaly
3376	IARS1	HP:0001410	Decreased liver function
3376	IARS1	HP:0002719	Recurrent infections
3376	IARS1	HP:0100511	Abnormality of vitamin D metabolism
3376	IARS1	HP:0003577	Congenital onset
3376	IARS1	HP:0010648	Dermal translucency
3376	IARS1	HP:0011968	Feeding difficulties
3376	IARS1	HP:0001027	Soft, doughy skin
3376	IARS1	HP:0100633	Esophagitis
3376	IARS1	HP:0031831	Decreased serum zinc
3376	IARS1	HP:0011342	Mild global developmental delay
3376	IARS1	HP:0000729	Autistic behavior
3376	IARS1	HP:0000819	Diabetes mellitus
3376	IARS1	HP:0000974	Hyperextensible skin
3376	IARS1	HP:0000293	Full cheeks
3376	IARS1	HP:0000252	Microcephaly
3376	IARS1	HP:0001562	Oligohydramnios
3376	IARS1	HP:0001508	Failure to thrive
3376	IARS1	HP:0001511	Intrauterine growth retardation
3376	IARS1	HP:0001510	Growth delay
3376	IARS1	HP:0002910	Elevated hepatic transaminase
3376	IARS1	HP:0000311	Round face
3376	IARS1	HP:0000407	Sensorineural hearing impairment
3394	IRF8	HP:0032252	Granuloma
3394	IRF8	HP:0410242	Abnormal circulating IgG level
3394	IRF8	HP:0010978	Abnormality of immune system physiology
3394	IRF8	HP:0002514	Cerebral calcification
3394	IRF8	HP:0000007	Autosomal recessive inheritance
3394	IRF8	HP:0000006	Autosomal dominant inheritance
3394	IRF8	HP:0012138	Granulocytic hyperplasia
3394	IRF8	HP:0002719	Recurrent infections
3394	IRF8	HP:0002716	Lymphadenopathy
3394	IRF8	HP:0002721	Immunodeficiency
3394	IRF8	HP:0002090	Pneumonia
3394	IRF8	HP:0002110	Bronchiectasis
3394	IRF8	HP:0011897	Neutrophilia
3394	IRF8	HP:0003593	Infantile onset
3394	IRF8	HP:0002240	Hepatomegaly
3394	IRF8	HP:0002205	Recurrent respiratory infections
3394	IRF8	HP:0020086	BCGitis
3394	IRF8	HP:0001945	Fever
3394	IRF8	HP:0001903	Anemia
3394	IRF8	HP:0003073	Hypoalbuminemia
3394	IRF8	HP:0011463	Childhood onset
3394	IRF8	HP:0003203	Impaired oxidative burst
3394	IRF8	HP:0000246	Sinusitis
3394	IRF8	HP:0002840	Lymphadenitis
3394	IRF8	HP:0001508	Failure to thrive
3394	IRF8	HP:0012312	Monocytopenia
3394	IRF8	HP:0001744	Splenomegaly
3394	IRF8	HP:0001880	Eosinophilia
3394	IRF8	HP:0001873	Thrombocytopenia
3417	IDH1	HP:0003796	Irregular iliac crest
3417	IDH1	HP:0002453	Abnormal globus pallidus morphology
3417	IDH1	HP:0001290	Generalized hypotonia
3417	IDH1	HP:0100806	Sepsis
3417	IDH1	HP:0001270	Motor delay
3417	IDH1	HP:0001263	Global developmental delay
3417	IDH1	HP:0007375	Abnormal septum pellucidum morphology
3417	IDH1	HP:0007361	Abnormal pons morphology
3417	IDH1	HP:0002515	Waddling gait
3417	IDH1	HP:0001367	Abnormal joint morphology
3417	IDH1	HP:0001387	Joint stiffness
3417	IDH1	HP:0007486	Cavernous hemangioma of the face
3417	IDH1	HP:0007461	Hemangiomatosis
3417	IDH1	HP:0002664	Neoplasm
3417	IDH1	HP:0000006	Autosomal dominant inheritance
3417	IDH1	HP:0002653	Bone pain
3417	IDH1	HP:0002650	Scoliosis
3417	IDH1	HP:0012174	Glioblastoma multiforme
3417	IDH1	HP:0025473	Hyperpigmented papule
3417	IDH1	HP:0002797	Osteolysis
3417	IDH1	HP:0001482	Subcutaneous nodule
3417	IDH1	HP:0000122	Unilateral renal agenesis
3417	IDH1	HP:0002763	Abnormal cartilage morphology
3417	IDH1	HP:0002757	Recurrent fractures
3417	IDH1	HP:0001428	Somatic mutation
3417	IDH1	HP:0002033	Poor suck
3417	IDH1	HP:0002015	Dysphagia
3417	IDH1	HP:0003301	Irregular vertebral endplates
3417	IDH1	HP:0004626	Lumbar scoliosis
3417	IDH1	HP:0002098	Respiratory distress
3417	IDH1	HP:0002119	Ventriculomegaly
3417	IDH1	HP:0011849	Abnormal bone ossification
3417	IDH1	HP:0010576	Intracranial cystic lesion
3417	IDH1	HP:0009592	Astrocytoma
3417	IDH1	HP:0100764	Lymphangioma
3417	IDH1	HP:0100777	Exostoses
3417	IDH1	HP:0100733	Neoplasm of the parathyroid gland
3417	IDH1	HP:0100761	Visceral angiomatosis
3417	IDH1	HP:0007033	Cerebellar dysplasia
3417	IDH1	HP:0011968	Feeding difficulties
3417	IDH1	HP:0004820	Acute myelomonocytic leukemia
3417	IDH1	HP:0001048	Cavernous hemangioma
3417	IDH1	HP:0001028	Hemangioma
3417	IDH1	HP:0200035	Skin plaque
3417	IDH1	HP:0100615	Ovarian neoplasm
3417	IDH1	HP:0009803	Short phalanx of finger
3417	IDH1	HP:0200042	Skin ulcer
3417	IDH1	HP:0100641	Neoplasm of the adrenal cortex
3417	IDH1	HP:0004936	Venous thrombosis
3417	IDH1	HP:0004948	Vascular tortuosity
3417	IDH1	HP:0006824	Cranial nerve paralysis
3417	IDH1	HP:0004242	Broad carpal bones
3417	IDH1	HP:0001928	Abnormality of coagulation
3417	IDH1	HP:0001903	Anemia
3417	IDH1	HP:0000666	Horizontal nystagmus
3417	IDH1	HP:0004322	Short stature
3417	IDH1	HP:0003002	Breast carcinoma
3417	IDH1	HP:0003029	Enlargement of the ankles
3417	IDH1	HP:0003016	Metaphyseal widening
3417	IDH1	HP:0003025	Metaphyseal irregularity
3417	IDH1	HP:0003021	Metaphyseal cupping
3417	IDH1	HP:0100021	Cerebral palsy
3417	IDH1	HP:0011470	Nasogastric tube feeding in infancy
3417	IDH1	HP:0012766	Widened cerebral subarachnoid space
3417	IDH1	HP:0012762	Cerebral white matter atrophy
3417	IDH1	HP:0005701	Multiple enchondromatosis
3417	IDH1	HP:0000914	Shield chest
3417	IDH1	HP:0000926	Platyspondyly
3417	IDH1	HP:0000853	Goiter
3417	IDH1	HP:0000826	Precocious puberty
3417	IDH1	HP:0030866	Large knee
3417	IDH1	HP:0005868	Metaphyseal enchondromatosis
3417	IDH1	HP:0100255	Metaphyseal dysplasia
3417	IDH1	HP:0000958	Dry skin
3417	IDH1	HP:0100242	Sarcoma
3417	IDH1	HP:0000944	Abnormal metaphysis morphology
3417	IDH1	HP:0011681	Subarterial ventricular septal defect
3417	IDH1	HP:0000278	Retrognathia
3417	IDH1	HP:0000256	Macrocephaly
3417	IDH1	HP:0002828	Multiple joint contractures
3417	IDH1	HP:0002897	Parathyroid adenoma
3417	IDH1	HP:0000233	Thin vermilion border
3417	IDH1	HP:0002893	Pituitary adenoma
3417	IDH1	HP:0002888	Ependymoma
3417	IDH1	HP:0001508	Failure to thrive
3417	IDH1	HP:0001511	Intrauterine growth retardation
3417	IDH1	HP:0001510	Growth delay
3417	IDH1	HP:0006532	Recurrent pneumonia
3417	IDH1	HP:0001601	Laryngomalacia
3417	IDH1	HP:0000343	Long philtrum
3417	IDH1	HP:0000337	Broad forehead
3417	IDH1	HP:0001684	Secundum atrial septal defect
3417	IDH1	HP:0012321	D-2-hydroxyglutaric aciduria
3417	IDH1	HP:0002983	Micromelia
3417	IDH1	HP:0002970	Genu varum
3417	IDH1	HP:0006610	Wide intermamillary distance
3417	IDH1	HP:0030297	Metaphyseal chondromatosis of ulna
3417	IDH1	HP:0000400	Macrotia
3417	IDH1	HP:0000494	Downslanted palpebral fissures
3417	IDH1	HP:0012448	Delayed myelination
3417	IDH1	HP:0000470	Short neck
3417	IDH1	HP:0030296	Metaphyseal chondromatosis of radius
3417	IDH1	HP:0030295	Metaphyseal chondromatosis of femur
3417	IDH1	HP:0030294	Metaphyseal chondromatosis of tibia
3417	IDH1	HP:0006765	Chondrosarcoma
3417	IDH1	HP:0000519	Developmental cataract
3417	IDH1	HP:0000506	Telecanthus
3418	IDH2	HP:0001250	Seizure
3418	IDH2	HP:0001252	Hypotonia
3418	IDH2	HP:0001263	Global developmental delay
3418	IDH2	HP:0001387	Joint stiffness
3418	IDH2	HP:0007461	Hemangiomatosis
3418	IDH2	HP:0002664	Neoplasm
3418	IDH2	HP:0000006	Autosomal dominant inheritance
3418	IDH2	HP:0002653	Bone pain
3418	IDH2	HP:0002650	Scoliosis
3418	IDH2	HP:0002797	Osteolysis
3418	IDH2	HP:0001482	Subcutaneous nodule
3418	IDH2	HP:0002763	Abnormal cartilage morphology
3418	IDH2	HP:0002757	Recurrent fractures
3418	IDH2	HP:0002015	Dysphagia
3418	IDH2	HP:0009592	Astrocytoma
3418	IDH2	HP:0100764	Lymphangioma
3418	IDH2	HP:0100777	Exostoses
3418	IDH2	HP:0100733	Neoplasm of the parathyroid gland
3418	IDH2	HP:0100761	Visceral angiomatosis
3418	IDH2	HP:0001028	Hemangioma
3418	IDH2	HP:0100615	Ovarian neoplasm
3418	IDH2	HP:0200042	Skin ulcer
3418	IDH2	HP:0100641	Neoplasm of the adrenal cortex
3418	IDH2	HP:0004936	Venous thrombosis
3418	IDH2	HP:0006824	Cranial nerve paralysis
3418	IDH2	HP:0001928	Abnormality of coagulation
3418	IDH2	HP:0001903	Anemia
3418	IDH2	HP:0004322	Short stature
3418	IDH2	HP:0003002	Breast carcinoma
3418	IDH2	HP:0100021	Cerebral palsy
3418	IDH2	HP:0005701	Multiple enchondromatosis
3418	IDH2	HP:0000926	Platyspondyly
3418	IDH2	HP:0000853	Goiter
3418	IDH2	HP:0000826	Precocious puberty
3418	IDH2	HP:0100242	Sarcoma
3418	IDH2	HP:0000944	Abnormal metaphysis morphology
3418	IDH2	HP:0040146	D-2-hydroxyglutaric acidemia
3418	IDH2	HP:0002897	Parathyroid adenoma
3418	IDH2	HP:0002893	Pituitary adenoma
3418	IDH2	HP:0001510	Growth delay
3418	IDH2	HP:0012321	D-2-hydroxyglutaric aciduria
3418	IDH2	HP:0002983	Micromelia
3418	IDH2	HP:0001638	Cardiomyopathy
3418	IDH2	HP:0006765	Chondrosarcoma
3419	IDH3A	HP:0001133	Constriction of peripheral visual field
3419	IDH3A	HP:0025158	Hyperautofluorescent retinal lesion
3419	IDH3A	HP:0001249	Intellectual disability
3419	IDH3A	HP:0008736	Hypoplasia of penis
3419	IDH3A	HP:0001347	Hyperreflexia
3419	IDH3A	HP:0000035	Abnormal testis morphology
3419	IDH3A	HP:0000007	Autosomal recessive inheritance
3419	IDH3A	HP:0000135	Hypogonadism
3419	IDH3A	HP:0007675	Progressive night blindness
3419	IDH3A	HP:0007663	Reduced visual acuity
3419	IDH3A	HP:0005978	Type II diabetes mellitus
3419	IDH3A	HP:0003593	Infantile onset
3419	IDH3A	HP:0003621	Juvenile onset
3419	IDH3A	HP:0000639	Nystagmus
3419	IDH3A	HP:0000648	Optic atrophy
3419	IDH3A	HP:0000618	Blindness
3419	IDH3A	HP:0000613	Photophobia
3419	IDH3A	HP:0000602	Ophthalmoplegia
3419	IDH3A	HP:0000662	Nyctalopia
3419	IDH3A	HP:0011463	Childhood onset
3419	IDH3A	HP:0011505	Cystoid macular edema
3419	IDH3A	HP:0000842	Hyperinsulinemia
3419	IDH3A	HP:0000987	Atypical scarring of skin
3419	IDH3A	HP:0008046	Abnormal retinal vascular morphology
3419	IDH3A	HP:0007722	Retinal pigment epithelial atrophy
3419	IDH3A	HP:0007703	Abnormality of retinal pigmentation
3419	IDH3A	HP:0007737	Bone spicule pigmentation of the retina
3419	IDH3A	HP:0001513	Obesity
3419	IDH3A	HP:0007843	Attenuation of retinal blood vessels
3419	IDH3A	HP:0000407	Sensorineural hearing impairment
3419	IDH3A	HP:0000405	Conductive hearing impairment
3419	IDH3A	HP:0000486	Strabismus
3419	IDH3A	HP:0000463	Anteverted nares
3419	IDH3A	HP:0000431	Wide nasal bridge
3419	IDH3A	HP:0000518	Cataract
3419	IDH3A	HP:0000512	Abnormal electroretinogram
3419	IDH3A	HP:0000505	Visual impairment
3419	IDH3A	HP:0000501	Glaucoma
3419	IDH3A	HP:0000563	Keratoconus
3420	IDH3B	HP:0001133	Constriction of peripheral visual field
3420	IDH3B	HP:0001249	Intellectual disability
3420	IDH3B	HP:0008736	Hypoplasia of penis
3420	IDH3B	HP:0001347	Hyperreflexia
3420	IDH3B	HP:0000035	Abnormal testis morphology
3420	IDH3B	HP:0000007	Autosomal recessive inheritance
3420	IDH3B	HP:0000135	Hypogonadism
3420	IDH3B	HP:0007675	Progressive night blindness
3420	IDH3B	HP:0005978	Type II diabetes mellitus
3420	IDH3B	HP:0000639	Nystagmus
3420	IDH3B	HP:0000648	Optic atrophy
3420	IDH3B	HP:0000618	Blindness
3420	IDH3B	HP:0000613	Photophobia
3420	IDH3B	HP:0000602	Ophthalmoplegia
3420	IDH3B	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
3420	IDH3B	HP:0000842	Hyperinsulinemia
3420	IDH3B	HP:0000987	Atypical scarring of skin
3420	IDH3B	HP:0008046	Abnormal retinal vascular morphology
3420	IDH3B	HP:0007703	Abnormality of retinal pigmentation
3420	IDH3B	HP:0007787	Posterior subcapsular cataract
3420	IDH3B	HP:0001513	Obesity
3420	IDH3B	HP:0007843	Attenuation of retinal blood vessels
3420	IDH3B	HP:0000407	Sensorineural hearing impairment
3420	IDH3B	HP:0000405	Conductive hearing impairment
3420	IDH3B	HP:0000463	Anteverted nares
3420	IDH3B	HP:0000431	Wide nasal bridge
3420	IDH3B	HP:0000518	Cataract
3420	IDH3B	HP:0000510	Rod-cone dystrophy
3420	IDH3B	HP:0000512	Abnormal electroretinogram
3420	IDH3B	HP:0000505	Visual impairment
3420	IDH3B	HP:0000501	Glaucoma
3420	IDH3B	HP:0000580	Pigmentary retinopathy
3420	IDH3B	HP:0000563	Keratoconus
3420	IDH3B	HP:0000543	Optic disc pallor
3423	IDS	HP:0001171	Split hand
3423	IDS	HP:0001273	Abnormal corpus callosum morphology
3423	IDS	HP:0001268	Mental deterioration
3423	IDS	HP:0001250	Seizure
3423	IDS	HP:0001263	Global developmental delay
3423	IDS	HP:0002500	Abnormal cerebral white matter morphology
3423	IDS	HP:0001376	Limitation of joint mobility
3423	IDS	HP:0001371	Flexion contracture
3423	IDS	HP:0001369	Arthritis
3423	IDS	HP:0001385	Hip dysplasia
3423	IDS	HP:0000023	Inguinal hernia
3423	IDS	HP:0001324	Muscle weakness
3423	IDS	HP:0012185	Constrictive median neuropathy
3423	IDS	HP:0000179	Thick lower lip vermilion
3423	IDS	HP:0000158	Macroglossia
3423	IDS	HP:0005019	Diaphyseal thickening
3423	IDS	HP:0410018	Recurrent ear infections
3423	IDS	HP:0002781	Upper airway obstruction
3423	IDS	HP:0002788	Recurrent upper respiratory tract infections
3423	IDS	HP:0002786	Tracheobronchomalacia
3423	IDS	HP:0001433	Hepatosplenomegaly
3423	IDS	HP:0001419	X-linked recessive inheritance
3423	IDS	HP:0002028	Chronic diarrhea
3423	IDS	HP:0002014	Diarrhea
3423	IDS	HP:0100543	Cognitive impairment
3423	IDS	HP:0002099	Asthma
3423	IDS	HP:0002091	Restrictive ventilatory defect
3423	IDS	HP:0040261	Increased size of nasopharyngeal adenoids
3423	IDS	HP:0003468	Abnormal vertebral morphology
3423	IDS	HP:0003416	Spinal canal stenosis
3423	IDS	HP:0002187	Intellectual disability, profound
3423	IDS	HP:0002180	Neurodegeneration
3423	IDS	HP:0002159	Heparan sulfate excretion in urine
3423	IDS	HP:0002176	Spinal cord compression
3423	IDS	HP:0100490	Camptodactyly of finger
3423	IDS	HP:0010535	Sleep apnea
3423	IDS	HP:0003593	Infantile onset
3423	IDS	HP:0002240	Hepatomegaly
3423	IDS	HP:0003541	Urinary glycosaminoglycan excretion
3423	IDS	HP:0008301	Dermatan sulfate excretion in urine
3423	IDS	HP:0003510	Severe short stature
3423	IDS	HP:0003502	Mild short stature
3423	IDS	HP:0002360	Sleep disturbance
3423	IDS	HP:0002376	Developmental regression
3423	IDS	HP:0002341	Cervical cord compression
3423	IDS	HP:0001085	Papilledema
3423	IDS	HP:0003621	Juvenile onset
3423	IDS	HP:0004950	Peripheral arterial stenosis
3423	IDS	HP:0000648	Optic atrophy
3423	IDS	HP:0011355	Localized skin lesion
3423	IDS	HP:0000684	Delayed eruption of teeth
3423	IDS	HP:0000687	Widely spaced teeth
3423	IDS	HP:0000662	Nyctalopia
3423	IDS	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
3423	IDS	HP:0004322	Short stature
3423	IDS	HP:0030680	Abnormality of cardiovascular system morphology
3423	IDS	HP:0004389	Intestinal pseudo-obstruction
3423	IDS	HP:0000736	Short attention span
3423	IDS	HP:0000708	Atypical behavior
3423	IDS	HP:0000707	Abnormality of the nervous system
3423	IDS	HP:0011463	Childhood onset
3423	IDS	HP:0011462	Young adult onset
3423	IDS	HP:0030799	Scaphocephaly
3423	IDS	HP:0000900	Thickened ribs
3423	IDS	HP:0034203	Decreased iduronate sulfatase level
3423	IDS	HP:0000822	Hypertension
3423	IDS	HP:0030812	Enlarged tonsils
3423	IDS	HP:0030823	Scleral thickening
3423	IDS	HP:0000998	Hypertrichosis
3423	IDS	HP:0000943	Dysostosis multiplex
3423	IDS	HP:0011675	Arrhythmia
3423	IDS	HP:0007703	Abnormality of retinal pigmentation
3423	IDS	HP:0000280	Coarse facial features
3423	IDS	HP:0000293	Full cheeks
3423	IDS	HP:0000256	Macrocephaly
3423	IDS	HP:0000268	Dolichocephaly
3423	IDS	HP:0007759	Opacification of the corneal stroma
3423	IDS	HP:0002808	Kyphosis
3423	IDS	HP:0000238	Hydrocephalus
3423	IDS	HP:0000212	Gingival overgrowth
3423	IDS	HP:0002870	Obstructive sleep apnea
3423	IDS	HP:0001537	Umbilical hernia
3423	IDS	HP:0001510	Growth delay
3423	IDS	HP:0012379	Abnormal circulating enzyme concentration or activity
3423	IDS	HP:0005216	Impaired mastication
3423	IDS	HP:0006532	Recurrent pneumonia
3423	IDS	HP:0006536	Airway obstruction
3423	IDS	HP:0001609	Hoarse voice
3423	IDS	HP:0006482	Abnormality of dental morphology
3423	IDS	HP:0000362	Otosclerosis
3423	IDS	HP:0000365	Hearing impairment
3423	IDS	HP:0000336	Prominent supraorbital ridges
3423	IDS	HP:0001679	Abnormal aortic morphology
3423	IDS	HP:0030148	Heart murmur
3423	IDS	HP:0001654	Abnormal heart valve morphology
3423	IDS	HP:0001641	Abnormal pulmonary valve morphology
3423	IDS	HP:0001635	Congestive heart failure
3423	IDS	HP:0001638	Cardiomyopathy
3423	IDS	HP:0001633	Abnormal mitral valve morphology
3423	IDS	HP:0007957	Corneal opacity
3423	IDS	HP:0012478	Temporomandibular joint ankylosis
3423	IDS	HP:0007994	Peripheral visual field loss
3423	IDS	HP:0000407	Sensorineural hearing impairment
3423	IDS	HP:0000403	Recurrent otitis media
3423	IDS	HP:0000405	Conductive hearing impairment
3423	IDS	HP:0001702	Abnormal tricuspid valve morphology
3423	IDS	HP:0012471	Thick vermilion border
3423	IDS	HP:0000493	Abnormal foveal morphology
3423	IDS	HP:0000488	Retinopathy
3423	IDS	HP:0000470	Short neck
3423	IDS	HP:0000445	Wide nose
3423	IDS	HP:0001744	Splenomegaly
3423	IDS	HP:0000431	Wide nasal bridge
3423	IDS	HP:0001761	Pes cavus
3423	IDS	HP:0000508	Ptosis
3423	IDS	HP:0000505	Visual impairment
3423	IDS	HP:0000553	Abnormal uvea morphology
3425	IDUA	HP:0007256	Abnormal pyramidal sign
3425	IDUA	HP:0001252	Hypotonia
3425	IDUA	HP:0001249	Intellectual disability
3425	IDUA	HP:0001263	Global developmental delay
3425	IDUA	HP:0008802	Hypoplasia of the femoral head
3425	IDUA	HP:0001376	Limitation of joint mobility
3425	IDUA	HP:0001371	Flexion contracture
3425	IDUA	HP:0001387	Joint stiffness
3425	IDUA	HP:0000023	Inguinal hernia
3425	IDUA	HP:0002680	J-shaped sella turcica
3425	IDUA	HP:0002673	Coxa valga
3425	IDUA	HP:0000007	Autosomal recessive inheritance
3425	IDUA	HP:0002652	Skeletal dysplasia
3425	IDUA	HP:0002650	Scoliosis
3425	IDUA	HP:0012185	Constrictive median neuropathy
3425	IDUA	HP:0000158	Macroglossia
3425	IDUA	HP:0001488	Bilateral ptosis
3425	IDUA	HP:0000154	Wide mouth
3425	IDUA	HP:0005019	Diaphyseal thickening
3425	IDUA	HP:0002777	Tracheal stenosis
3425	IDUA	HP:0001433	Hepatosplenomegaly
3425	IDUA	HP:0002028	Chronic diarrhea
3425	IDUA	HP:0002007	Frontal bossing
3425	IDUA	HP:0003311	Hypoplasia of the odontoid process
3425	IDUA	HP:0003320	C1-C2 subluxation
3425	IDUA	HP:0003302	Spondylolisthesis
3425	IDUA	HP:0002092	Pulmonary arterial hypertension
3425	IDUA	HP:0003393	Thenar muscle atrophy
3425	IDUA	HP:0005930	Abnormal epiphysis morphology
3425	IDUA	HP:0008155	Mucopolysacchariduria
3425	IDUA	HP:0003468	Abnormal vertebral morphology
3425	IDUA	HP:0003416	Spinal canal stenosis
3425	IDUA	HP:0002180	Neurodegeneration
3425	IDUA	HP:0002159	Heparan sulfate excretion in urine
3425	IDUA	HP:0100490	Camptodactyly of finger
3425	IDUA	HP:0046505	Hand pain
3425	IDUA	HP:0002240	Hepatomegaly
3425	IDUA	HP:0002230	Generalized hirsutism
3425	IDUA	HP:0003541	Urinary glycosaminoglycan excretion
3425	IDUA	HP:0002205	Recurrent respiratory infections
3425	IDUA	HP:0100765	Abnormality of the tonsils
3425	IDUA	HP:0100790	Hernia
3425	IDUA	HP:0100729	Large face
3425	IDUA	HP:0009697	Contracture of the distal interphalangeal joint of the fingers
3425	IDUA	HP:0011968	Feeding difficulties
3425	IDUA	HP:0008301	Dermatan sulfate excretion in urine
3425	IDUA	HP:0002360	Sleep disturbance
3425	IDUA	HP:0002344	Progressive neurologic deterioration
3425	IDUA	HP:0002341	Cervical cord compression
3425	IDUA	HP:0001007	Hirsutism
3425	IDUA	HP:0002313	Spastic paraparesis
3425	IDUA	HP:0001000	Abnormality of skin pigmentation
3425	IDUA	HP:0009811	Abnormality of the elbow
3425	IDUA	HP:0001072	Thickened skin
3425	IDUA	HP:0000691	Microdontia
3425	IDUA	HP:0004322	Short stature
3425	IDUA	HP:0003016	Metaphyseal widening
3425	IDUA	HP:0000772	Abnormal rib morphology
3425	IDUA	HP:0100021	Cerebral palsy
3425	IDUA	HP:0011400	Abnormal CNS myelination
3425	IDUA	HP:0000716	Depression
3425	IDUA	HP:0011463	Childhood onset
3425	IDUA	HP:0004437	Cranial hyperostosis
3425	IDUA	HP:0040129	Abnormal nerve conduction velocity
3425	IDUA	HP:0000924	Abnormality of the skeletal system
3425	IDUA	HP:0004490	Calvarial hyperostosis
3425	IDUA	HP:0000889	Abnormal clavicle morphology
3425	IDUA	HP:0000822	Hypertension
3425	IDUA	HP:0000894	Short clavicles
3425	IDUA	HP:0003275	Narrow pelvis bone
3425	IDUA	HP:0030812	Enlarged tonsils
3425	IDUA	HP:0004586	Biconcave vertebral bodies
3425	IDUA	HP:0000943	Dysostosis multiplex
3425	IDUA	HP:0000940	Abnormal diaphysis morphology
3425	IDUA	HP:0000283	Broad face
3425	IDUA	HP:0000280	Coarse facial features
3425	IDUA	HP:0000293	Full cheeks
3425	IDUA	HP:0000256	Macrocephaly
3425	IDUA	HP:0000268	Dolichocephaly
3425	IDUA	HP:0007759	Opacification of the corneal stroma
3425	IDUA	HP:0002808	Kyphosis
3425	IDUA	HP:0000238	Hydrocephalus
3425	IDUA	HP:0000212	Gingival overgrowth
3425	IDUA	HP:0000232	Everted lower lip vermilion
3425	IDUA	HP:0002857	Genu valgum
3425	IDUA	HP:0001522	Death in infancy
3425	IDUA	HP:0002870	Obstructive sleep apnea
3425	IDUA	HP:0002869	Flared iliac wing
3425	IDUA	HP:0001537	Umbilical hernia
3425	IDUA	HP:0001538	Protuberant abdomen
3425	IDUA	HP:0001510	Growth delay
3425	IDUA	HP:0012384	Rhinitis
3425	IDUA	HP:0000365	Hearing impairment
3425	IDUA	HP:0001681	Angina pectoris
3425	IDUA	HP:0000347	Micrognathia
3425	IDUA	HP:0001650	Aortic valve stenosis
3425	IDUA	HP:0000316	Hypertelorism
3425	IDUA	HP:0001659	Aortic regurgitation
3425	IDUA	HP:0001654	Abnormal heart valve morphology
3425	IDUA	HP:0001653	Mitral regurgitation
3425	IDUA	HP:0001638	Cardiomyopathy
3425	IDUA	HP:0000303	Mandibular prognathia
3425	IDUA	HP:0007957	Corneal opacity
3425	IDUA	HP:0000407	Sensorineural hearing impairment
3425	IDUA	HP:0000403	Recurrent otitis media
3425	IDUA	HP:0001706	Endocardial fibroelastosis
3425	IDUA	HP:0005280	Depressed nasal bridge
3425	IDUA	HP:0012471	Thick vermilion border
3425	IDUA	HP:0000488	Retinopathy
3425	IDUA	HP:0000463	Anteverted nares
3425	IDUA	HP:0000455	Broad nasal tip
3425	IDUA	HP:0000470	Short neck
3425	IDUA	HP:0000445	Wide nose
3425	IDUA	HP:0001744	Splenomegaly
3425	IDUA	HP:0000431	Wide nasal bridge
3425	IDUA	HP:0001761	Pes cavus
3425	IDUA	HP:0000501	Glaucoma
3425	IDUA	HP:0000574	Thick eyebrow
3425	IDUA	HP:0000546	Retinal degeneration
3426	CFI	HP:0007430	Generalized edema
3426	CFI	HP:0007401	Macular atrophy
3426	CFI	HP:0000083	Renal insufficiency
3426	CFI	HP:0000099	Glomerulonephritis
3426	CFI	HP:0000093	Proteinuria
3426	CFI	HP:0001342	Cerebral hemorrhage
3426	CFI	HP:0000010	Recurrent urinary tract infections
3426	CFI	HP:0000007	Autosomal recessive inheritance
3426	CFI	HP:0000006	Autosomal dominant inheritance
3426	CFI	HP:0002633	Vasculitis
3426	CFI	HP:0002615	Hypotension
3426	CFI	HP:0025435	Increased circulating lactate dehydrogenase concentration
3426	CFI	HP:0410019	Epigastric pain
3426	CFI	HP:0002018	Nausea
3426	CFI	HP:0002027	Abdominal pain
3426	CFI	HP:0002013	Vomiting
3426	CFI	HP:0100519	Anuria
3426	CFI	HP:0100598	Pulmonary edema
3426	CFI	HP:0008151	Prolonged prothrombin time
3426	CFI	HP:0003418	Back pain
3426	CFI	HP:0011900	Hypofibrinogenemia
3426	CFI	HP:0003593	Infantile onset
3426	CFI	HP:0002202	Pleural effusion
3426	CFI	HP:0001058	Poor wound healing
3426	CFI	HP:0002315	Headache
3426	CFI	HP:0100601	Eclampsia
3426	CFI	HP:0100602	Preeclampsia
3426	CFI	HP:0200056	Macular scar
3426	CFI	HP:0003641	Hemoglobinuria
3426	CFI	HP:0003621	Juvenile onset
3426	CFI	HP:0030500	Yellow/white lesions of the macula
3426	CFI	HP:0005521	Disseminated intravascular coagulation
3426	CFI	HP:0030528	Paracentral scotoma
3426	CFI	HP:0005575	Hemolytic-uremic syndrome
3426	CFI	HP:0000613	Photophobia
3426	CFI	HP:0001937	Microangiopathic hemolytic anemia
3426	CFI	HP:0000608	Macular degeneration
3426	CFI	HP:0001903	Anemia
3426	CFI	HP:0001919	Acute kidney injury
3426	CFI	HP:0030499	Macular drusen
3426	CFI	HP:0004324	Increased body weight
3426	CFI	HP:0030629	Perifoveal ring of hyperautofluorescence
3426	CFI	HP:0030632	Hypoautofluorescent macular lesion
3426	CFI	HP:0030631	Hyperautofluorescent macular lesion
3426	CFI	HP:0006946	Recurrent meningitis
3426	CFI	HP:0011419	Placental abruption
3426	CFI	HP:0011463	Childhood onset
3426	CFI	HP:0011462	Young adult onset
3426	CFI	HP:0000790	Hematuria
3426	CFI	HP:0003138	Increased blood urea nitrogen
3426	CFI	HP:0011510	Drusen
3426	CFI	HP:0011509	Macular hyperpigmentation
3426	CFI	HP:0011506	Choroidal neovascularization
3426	CFI	HP:0003095	Septic arthritis
3426	CFI	HP:0000822	Hypertension
3426	CFI	HP:0030834	Shoulder pain
3426	CFI	HP:0003259	Elevated circulating creatinine concentration
3426	CFI	HP:0008071	Maternal hypertension
3426	CFI	HP:0007703	Abnormality of retinal pigmentation
3426	CFI	HP:0025574	Macular hemorrhage
3426	CFI	HP:0025547	Decreased mean corpuscular hemoglobin concentration
3426	CFI	HP:0007793	Granular macular appearance
3426	CFI	HP:0007754	Macular dystrophy
3426	CFI	HP:0012231	Exudative retinal detachment
3426	CFI	HP:0001581	Recurrent skin infections
3426	CFI	HP:0012378	Fatigue
3426	CFI	HP:0031526	Subretinal fluid
3426	CFI	HP:0011029	Internal hemorrhage
3426	CFI	HP:0002910	Elevated hepatic transaminase
3426	CFI	HP:0012330	Pyelonephritis
3426	CFI	HP:0007950	Peripapillary chorioretinal atrophy
3426	CFI	HP:0007937	Reticular pigmentary degeneration
3426	CFI	HP:0005376	Recurrent Haemophilus influenzae infections
3426	CFI	HP:0005381	Recurrent meningococcal disease
3426	CFI	HP:0005356	Decreased circulating complement factor I concentration
3426	CFI	HP:0005369	Decreased circulating complement factor H concentration
3426	CFI	HP:0005366	Recurrent streptococcus pneumoniae infections
3426	CFI	HP:0000403	Recurrent otitis media
3426	CFI	HP:0011108	Recurrent sinusitis
3426	CFI	HP:0005421	Decreased circulating complement C3 concentration
3426	CFI	HP:0005416	Decreased circulating complement factor B concentration
3426	CFI	HP:0012508	Metamorphopsia
3426	CFI	HP:0000529	Progressive visual loss
3426	CFI	HP:0000572	Visual loss
3426	CFI	HP:0001878	Hemolytic anemia
3426	CFI	HP:0001873	Thrombocytopenia
3431	SP110	HP:0002415	Leukodystrophy
3431	SP110	HP:0001269	Hemiparesis
3431	SP110	HP:0001392	Abnormality of the liver
3431	SP110	HP:0000016	Urinary retention
3431	SP110	HP:0000007	Autosomal recessive inheritance
3431	SP110	HP:0031123	Recurrent gastroenteritis
3431	SP110	HP:0410018	Recurrent ear infections
3431	SP110	HP:0031218	Inappropriate antidiuretic hormone secretion
3431	SP110	HP:0001433	Hepatosplenomegaly
3431	SP110	HP:0001409	Portal hypertension
3431	SP110	HP:0002743	Recurrent enteroviral infections
3431	SP110	HP:0002728	Chronic mucocutaneous candidiasis
3431	SP110	HP:0002722	Recurrent abscess formation
3431	SP110	HP:0002721	Immunodeficiency
3431	SP110	HP:0002014	Diarrhea
3431	SP110	HP:0002069	Bilateral tonic-clonic seizure
3431	SP110	HP:0002100	Recurrent aspiration pneumonia
3431	SP110	HP:0010550	Paraplegia
3431	SP110	HP:0002240	Hepatomegaly
3431	SP110	HP:0002205	Recurrent respiratory infections
3431	SP110	HP:0002206	Pulmonary fibrosis
3431	SP110	HP:0002385	Paraparesis
3431	SP110	HP:0100626	Chronic hepatic failure
3431	SP110	HP:0001903	Anemia
3431	SP110	HP:0004315	Decreased circulating IgG level
3431	SP110	HP:0012735	Cough
3431	SP110	HP:0004429	Recurrent viral infections
3431	SP110	HP:0030782	Abnormal circulating interleukin concentration
3431	SP110	HP:0003139	Panhypogammaglobulinemia
3431	SP110	HP:0040088	Abnormal lymphocyte count
3431	SP110	HP:0040089	Abnormal natural killer cell count
3431	SP110	HP:0040223	Pulmonary hemorrhage
3431	SP110	HP:0000952	Jaundice
3431	SP110	HP:0000252	Microcephaly
3431	SP110	HP:0001531	Failure to thrive in infancy
3431	SP110	HP:0001541	Ascites
3431	SP110	HP:0002849	Absence of lymph node germinal center
3431	SP110	HP:0002910	Elevated hepatic transaminase
3431	SP110	HP:0006685	Endocardial fibrosis
3431	SP110	HP:0005403	T lymphocytopenia
3431	SP110	HP:0030355	Abnormal circulating interferon-gamma concentration
3431	SP110	HP:0030374	Decreased proportion of memory B cells
3431	SP110	HP:0001873	Thrombocytopenia
3431	SP110	HP:0001876	Pancytopenia
3454	IFNAR1	HP:0000007	Autosomal recessive inheritance
3454	IFNAR1	HP:0003593	Infantile onset
3454	IFNAR1	HP:0020088	Post-vaccination measles
3454	IFNAR1	HP:0003621	Juvenile onset
3454	IFNAR1	HP:0034310	Post-vaccination yellow fever
3455	IFNAR2	HP:0000007	Autosomal recessive inheritance
3455	IFNAR2	HP:0020088	Post-vaccination measles
3458	IFNG	HP:0002465	Poor speech
3458	IFNG	HP:0003774	Stage 5 chronic kidney disease
3458	IFNG	HP:0010953	Noncommunicating hydrocephalus
3458	IFNG	HP:0100804	Ungual fibroma
3458	IFNG	HP:0001250	Seizure
3458	IFNG	HP:0001249	Intellectual disability
3458	IFNG	HP:0007449	Confetti-like hypopigmented macules
3458	IFNG	HP:0008762	Repetitive compulsive behavior
3458	IFNG	HP:0007359	Focal-onset seizure
3458	IFNG	HP:0002539	Cortical dysplasia
3458	IFNG	HP:0002514	Cerebral calcification
3458	IFNG	HP:0000083	Renal insufficiency
3458	IFNG	HP:0000077	Abnormality of the kidney
3458	IFNG	HP:0001328	Specific learning disability
3458	IFNG	HP:0000007	Autosomal recessive inheritance
3458	IFNG	HP:0000006	Autosomal dominant inheritance
3458	IFNG	HP:0002666	Pheochromocytoma
3458	IFNG	HP:0012156	Hemophagocytosis
3458	IFNG	HP:0000169	Gingival fibromatosis
3458	IFNG	HP:0001482	Subcutaneous nodule
3458	IFNG	HP:0000113	Polycystic kidney dysplasia
3458	IFNG	HP:0000107	Renal cyst
3458	IFNG	HP:0001433	Hepatosplenomegaly
3458	IFNG	HP:0001407	Hepatic cysts
3458	IFNG	HP:0002719	Recurrent infections
3458	IFNG	HP:0002014	Diarrhea
3458	IFNG	HP:0002098	Respiratory distress
3458	IFNG	HP:0100570	Carcinoid tumor
3458	IFNG	HP:0002133	Status epilepticus
3458	IFNG	HP:0002105	Hemoptysis
3458	IFNG	HP:0008208	Parathyroid hyperplasia
3458	IFNG	HP:0009592	Astrocytoma
3458	IFNG	HP:0009594	Retinal hamartoma
3458	IFNG	HP:0003593	Infantile onset
3458	IFNG	HP:0100710	Impulsivity
3458	IFNG	HP:0100716	Self-injurious behavior
3458	IFNG	HP:0009727	Achromatic retinal patches
3458	IFNG	HP:0009729	Cardiac rhabdomyoma
3458	IFNG	HP:0009734	Optic nerve glioma
3458	IFNG	HP:0009717	Cortical tubers
3458	IFNG	HP:0009716	Subependymal nodules
3458	IFNG	HP:0009719	Hypomelanotic macule
3458	IFNG	HP:0009718	Subependymal giant-cell astrocytoma
3458	IFNG	HP:0009720	Adenoma sebaceum
3458	IFNG	HP:0009721	Shagreen patch
3458	IFNG	HP:0009724	Subungual fibromas
3458	IFNG	HP:0007018	Attention deficit hyperactivity disorder
3458	IFNG	HP:0010615	Angiofibromas
3458	IFNG	HP:0011947	Respiratory tract infection
3458	IFNG	HP:0020087	BCGosis
3458	IFNG	HP:0002360	Sleep disturbance
3458	IFNG	HP:0007206	Hemimegalencephaly
3458	IFNG	HP:0200035	Skin plaque
3458	IFNG	HP:0200040	Epidermoid cyst
3458	IFNG	HP:0010762	Chordoma
3458	IFNG	HP:0004942	Aortic aneurysm
3458	IFNG	HP:0005528	Bone marrow hypocellularity
3458	IFNG	HP:0005584	Renal cell carcinoma
3458	IFNG	HP:0005564	Absence of renal corticomedullary differentiation
3458	IFNG	HP:0012622	Chronic kidney disease
3458	IFNG	HP:0001974	Leukocytosis
3458	IFNG	HP:0001945	Fever
3458	IFNG	HP:0001903	Anemia
3458	IFNG	HP:0001915	Aplastic anemia
3458	IFNG	HP:0011354	Generalized abnormality of skin
3458	IFNG	HP:0000752	Hyperactivity
3458	IFNG	HP:0000739	Anxiety
3458	IFNG	HP:0000716	Depression
3458	IFNG	HP:0000718	Aggressive behavior
3458	IFNG	HP:0000717	Autism
3458	IFNG	HP:0000729	Autistic behavior
3458	IFNG	HP:0000708	Atypical behavior
3458	IFNG	HP:0012798	Pulmonary lymphangiomyomatosis
3458	IFNG	HP:0012778	Retinal astrocytic hamartoma
3458	IFNG	HP:0012758	Neurodevelopmental delay
3458	IFNG	HP:0000826	Precocious puberty
3458	IFNG	HP:0000822	Hypertension
3458	IFNG	HP:0000821	Hypothyroidism
3458	IFNG	HP:0040030	Chorioretinal hypopigmentation
3458	IFNG	HP:0003281	Increased circulating ferritin concentration
3458	IFNG	HP:0000988	Skin rash
3458	IFNG	HP:0000957	Cafe-au-lait spot
3458	IFNG	HP:0030057	Autoimmune antibody positivity
3458	IFNG	HP:0002897	Parathyroid adenoma
3458	IFNG	HP:0002878	Respiratory failure
3458	IFNG	HP:0002893	Pituitary adenoma
3458	IFNG	HP:0002888	Ependymoma
3458	IFNG	HP:0000225	Gingival bleeding
3458	IFNG	HP:0031364	Ecchymosis
3458	IFNG	HP:0001508	Failure to thrive
3458	IFNG	HP:0011097	Epileptic spasm
3458	IFNG	HP:0011029	Internal hemorrhage
3458	IFNG	HP:0000365	Hearing impairment
3458	IFNG	HP:0001716	Wolff-Parkinson-White syndrome
3458	IFNG	HP:0012469	Infantile spasms
3458	IFNG	HP:0012433	Abnormal social behavior
3458	IFNG	HP:0001744	Splenomegaly
3458	IFNG	HP:0000421	Epistaxis
3458	IFNG	HP:0030405	Pancreatic endocrine tumor
3458	IFNG	HP:0006772	Renal angiomyolipoma
3458	IFNG	HP:0001894	Thrombocytosis
3458	IFNG	HP:0000573	Retinal hemorrhage
3458	IFNG	HP:0001896	Reticulocytopenia
3458	IFNG	HP:0001873	Thrombocytopenia
3458	IFNG	HP:0001876	Pancytopenia
3458	IFNG	HP:0001875	Neutropenia
3459	IFNGR1	HP:0007256	Abnormal pyramidal sign
3459	IFNGR1	HP:0010885	Avascular necrosis
3459	IFNGR1	HP:0100820	Glomerulopathy
3459	IFNGR1	HP:0001269	Hemiparesis
3459	IFNGR1	HP:0001287	Meningitis
3459	IFNGR1	HP:0001289	Confusion
3459	IFNGR1	HP:0001288	Gait disturbance
3459	IFNGR1	HP:0001250	Seizure
3459	IFNGR1	HP:0001251	Ataxia
3459	IFNGR1	HP:0002516	Increased intracranial pressure
3459	IFNGR1	HP:0000083	Renal insufficiency
3459	IFNGR1	HP:0008802	Hypoplasia of the femoral head
3459	IFNGR1	HP:0001369	Arthritis
3459	IFNGR1	HP:0001347	Hyperreflexia
3459	IFNGR1	HP:0000007	Autosomal recessive inheritance
3459	IFNGR1	HP:0000006	Autosomal dominant inheritance
3459	IFNGR1	HP:0002637	Cerebral ischemia
3459	IFNGR1	HP:0002633	Vasculitis
3459	IFNGR1	HP:0000155	Oral ulcer
3459	IFNGR1	HP:0001482	Subcutaneous nodule
3459	IFNGR1	HP:0025427	Abnormal bronchus physiology
3459	IFNGR1	HP:0008940	Generalized lymphadenopathy
3459	IFNGR1	HP:0002754	Osteomyelitis
3459	IFNGR1	HP:0001433	Hepatosplenomegaly
3459	IFNGR1	HP:0002716	Lymphadenopathy
3459	IFNGR1	HP:0002721	Immunodeficiency
3459	IFNGR1	HP:0002024	Malabsorption
3459	IFNGR1	HP:0002017	Nausea and vomiting
3459	IFNGR1	HP:0002027	Abdominal pain
3459	IFNGR1	HP:0003326	Myalgia
3459	IFNGR1	HP:0002014	Diarrhea
3459	IFNGR1	HP:0002090	Pneumonia
3459	IFNGR1	HP:0002076	Migraine
3459	IFNGR1	HP:0002039	Anorexia
3459	IFNGR1	HP:0100584	Endocarditis
3459	IFNGR1	HP:0002102	Pleuritis
3459	IFNGR1	HP:0002113	Pulmonary infiltrates
3459	IFNGR1	HP:0002105	Hemoptysis
3459	IFNGR1	HP:0003496	Increased circulating IgM level
3459	IFNGR1	HP:0003401	Paresthesia
3459	IFNGR1	HP:0002239	Gastrointestinal hemorrhage
3459	IFNGR1	HP:0003565	Elevated erythrocyte sedimentation rate
3459	IFNGR1	HP:0002202	Pleural effusion
3459	IFNGR1	HP:0002204	Pulmonary embolism
3459	IFNGR1	HP:0100796	Orchitis
3459	IFNGR1	HP:0100727	Histiocytosis
3459	IFNGR1	HP:0100758	Gangrene
3459	IFNGR1	HP:0002383	Infectious encephalitis
3459	IFNGR1	HP:0001061	Acne
3459	IFNGR1	HP:0002376	Developmental regression
3459	IFNGR1	HP:0002354	Memory impairment
3459	IFNGR1	HP:0002321	Vertigo
3459	IFNGR1	HP:0100653	Optic neuritis
3459	IFNGR1	HP:0100654	Retrobulbar optic neuritis
3459	IFNGR1	HP:0200034	Papule
3459	IFNGR1	HP:0001097	Keratoconjunctivitis sicca
3459	IFNGR1	HP:0100614	Myositis
3459	IFNGR1	HP:0025043	Enlarged mesenteric lymph node
3459	IFNGR1	HP:0004936	Venous thrombosis
3459	IFNGR1	HP:0006824	Cranial nerve paralysis
3459	IFNGR1	HP:0001974	Leukocytosis
3459	IFNGR1	HP:0000618	Blindness
3459	IFNGR1	HP:0000613	Photophobia
3459	IFNGR1	HP:0001945	Fever
3459	IFNGR1	HP:0001903	Anemia
3459	IFNGR1	HP:0012649	Increased inflammatory response
3459	IFNGR1	HP:0005661	Salmonella osteomyelitis
3459	IFNGR1	HP:0003073	Hypoalbuminemia
3459	IFNGR1	HP:0000737	Irritability
3459	IFNGR1	HP:0000708	Atypical behavior
3459	IFNGR1	HP:0004420	Arterial thrombosis
3459	IFNGR1	HP:0100326	Immunologic hypersensitivity
3459	IFNGR1	HP:0003237	Increased circulating IgG level
3459	IFNGR1	HP:0008066	Abnormal blistering of the skin
3459	IFNGR1	HP:0002829	Arthralgia
3459	IFNGR1	HP:0012378	Fatigue
3459	IFNGR1	HP:0005202	Helicobacter pylori infection
3459	IFNGR1	HP:0002923	Rheumatoid factor positive
3459	IFNGR1	HP:0001658	Myocardial infarction
3459	IFNGR1	HP:0001659	Aortic regurgitation
3459	IFNGR1	HP:0001653	Mitral regurgitation
3459	IFNGR1	HP:0030166	Night sweats
3459	IFNGR1	HP:0001637	Abnormal myocardium morphology
3459	IFNGR1	HP:0001733	Pancreatitis
3459	IFNGR1	HP:0001701	Pericarditis
3459	IFNGR1	HP:0000488	Retinopathy
3459	IFNGR1	HP:0011107	Recurrent aphthous stomatitis
3459	IFNGR1	HP:0001744	Splenomegaly
3459	IFNGR1	HP:0011275	Recurrent mycobacterium avium complex infections
3459	IFNGR1	HP:0011274	Recurrent mycobacterial infections
3459	IFNGR1	HP:0000518	Cataract
3459	IFNGR1	HP:0001824	Weight loss
3459	IFNGR1	HP:0001894	Thrombocytosis
3460	IFNGR2	HP:0000007	Autosomal recessive inheritance
3460	IFNGR2	HP:0002721	Immunodeficiency
3460	IFNGR2	HP:0011274	Recurrent mycobacterial infections
3475	IFRD1	HP:0001272	Cerebellar atrophy
3475	IFRD1	HP:0001284	Areflexia
3475	IFRD1	HP:0001260	Dysarthria
3475	IFRD1	HP:0001324	Muscle weakness
3475	IFRD1	HP:0001310	Dysmetria
3475	IFRD1	HP:0002600	Hyporeflexia of lower limbs
3475	IFRD1	HP:0002066	Gait ataxia
3475	IFRD1	HP:0003477	Peripheral axonal neuropathy
3475	IFRD1	HP:0003474	Somatic sensory dysfunction
3475	IFRD1	HP:0010546	Muscle fibrillation
3475	IFRD1	HP:0002395	Lower limb hyperreflexia
3475	IFRD1	HP:0002346	Head tremor
3475	IFRD1	HP:0007141	Sensorimotor neuropathy
3475	IFRD1	HP:0000639	Nystagmus
3475	IFRD1	HP:0003202	Skeletal muscle atrophy
3475	IFRD1	HP:0030187	Titubation
3475	IFRD1	HP:0000365	Hearing impairment
3475	IFRD1	HP:0001761	Pes cavus
3476	IGBP1	HP:0001274	Agenesis of corpus callosum
3476	IGBP1	HP:0001249	Intellectual disability
3476	IGBP1	HP:0008689	Bilateral cryptorchidism
3476	IGBP1	HP:0002650	Scoliosis
3476	IGBP1	HP:0000193	Bifid uvula
3476	IGBP1	HP:0000175	Cleft palate
3476	IGBP1	HP:0001419	X-linked recessive inheritance
3476	IGBP1	HP:0002100	Recurrent aspiration pneumonia
3476	IGBP1	HP:0003577	Congenital onset
3476	IGBP1	HP:0000639	Nystagmus
3476	IGBP1	HP:0000612	Iris coloboma
3476	IGBP1	HP:0004322	Short stature
3476	IGBP1	HP:0000767	Pectus excavatum
3476	IGBP1	HP:0000278	Retrognathia
3476	IGBP1	HP:0000256	Macrocephaly
3476	IGBP1	HP:0000218	High palate
3476	IGBP1	HP:0000378	Cupped ear
3476	IGBP1	HP:0000377	Abnormal pinna morphology
3476	IGBP1	HP:0000394	Lop ear
3476	IGBP1	HP:0006532	Recurrent pneumonia
3476	IGBP1	HP:0002944	Thoracolumbar scoliosis
3476	IGBP1	HP:0000365	Hearing impairment
3476	IGBP1	HP:0000369	Low-set ears
3476	IGBP1	HP:0000337	Broad forehead
3476	IGBP1	HP:0000348	High forehead
3476	IGBP1	HP:0001643	Patent ductus arteriosus
3476	IGBP1	HP:0001629	Ventricular septal defect
3476	IGBP1	HP:0000407	Sensorineural hearing impairment
3476	IGBP1	HP:0000494	Downslanted palpebral fissures
3476	IGBP1	HP:0012450	Chronic constipation
3476	IGBP1	HP:0000475	Broad neck
3476	IGBP1	HP:0000470	Short neck
3476	IGBP1	HP:0000453	Choanal atresia
3476	IGBP1	HP:0000410	Mixed hearing impairment
3476	IGBP1	HP:0000426	Prominent nasal bridge
3476	IGBP1	HP:0000505	Visual impairment
3476	IGBP1	HP:0000588	Optic disc coloboma
3479	IGF1	HP:0008619	Bilateral sensorineural hearing impairment
3479	IGF1	HP:0001270	Motor delay
3479	IGF1	HP:0001256	Intellectual disability, mild
3479	IGF1	HP:0001249	Intellectual disability
3479	IGF1	HP:0008897	Postnatal growth retardation
3479	IGF1	HP:0008850	Severe postnatal growth retardation
3479	IGF1	HP:0008846	Severe intrauterine growth retardation
3479	IGF1	HP:0000007	Autosomal recessive inheritance
3479	IGF1	HP:0000135	Hypogonadism
3479	IGF1	HP:0000153	Abnormality of the mouth
3479	IGF1	HP:0006266	Small placenta
3479	IGF1	HP:0002750	Delayed skeletal maturation
3479	IGF1	HP:0002162	Low posterior hairline
3479	IGF1	HP:0003577	Congenital onset
3479	IGF1	HP:0007018	Attention deficit hyperactivity disorder
3479	IGF1	HP:0008527	Congenital sensorineural hearing impairment
3479	IGF1	HP:0004209	Clinodactyly of the 5th finger
3479	IGF1	HP:0001943	Hypoglycemia
3479	IGF1	HP:0001956	Truncal obesity
3479	IGF1	HP:0000684	Delayed eruption of teeth
3479	IGF1	HP:0001999	Abnormal facial shape
3479	IGF1	HP:0004325	Decreased body weight
3479	IGF1	HP:0004322	Short stature
3479	IGF1	HP:0000752	Hyperactivity
3479	IGF1	HP:0000736	Short attention span
3479	IGF1	HP:0000708	Atypical behavior
3479	IGF1	HP:0000855	Insulin resistance
3479	IGF1	HP:0000845	Elevated circulating growth hormone concentration
3479	IGF1	HP:0003265	Neonatal hyperbilirubinemia
3479	IGF1	HP:0000957	Cafe-au-lait spot
3479	IGF1	HP:0000954	Single transverse palmar crease
3479	IGF1	HP:0000939	Osteoporosis
3479	IGF1	HP:0000938	Osteopenia
3479	IGF1	HP:0000294	Low anterior hairline
3479	IGF1	HP:0030084	Clinodactyly
3479	IGF1	HP:0000252	Microcephaly
3479	IGF1	HP:0001508	Failure to thrive
3479	IGF1	HP:0001518	Small for gestational age
3479	IGF1	HP:0001511	Intrauterine growth retardation
3479	IGF1	HP:0000399	Prelingual sensorineural hearing impairment
3479	IGF1	HP:0000347	Micrognathia
3479	IGF1	HP:0007911	Congenital bilateral ptosis
3479	IGF1	HP:0000407	Sensorineural hearing impairment
3479	IGF1	HP:0011120	Concave nasal ridge
3479	IGF1	HP:0000508	Ptosis
3479	IGF1	HP:0030353	Decreased serum insulin-like growth factor 1
3479	IGF1	HP:0011220	Prominent forehead
3479	IGF1	HP:0000545	Myopia
3480	IGF1R	HP:0003758	Reduced subcutaneous adipose tissue
3480	IGF1R	HP:0001270	Motor delay
3480	IGF1R	HP:0001249	Intellectual disability
3480	IGF1R	HP:0001263	Global developmental delay
3480	IGF1R	HP:0002553	Highly arched eyebrow
3480	IGF1R	HP:0000007	Autosomal recessive inheritance
3480	IGF1R	HP:0000006	Autosomal dominant inheritance
3480	IGF1R	HP:0000160	Narrow mouth
3480	IGF1R	HP:0002750	Delayed skeletal maturation
3480	IGF1R	HP:0002079	Hypoplasia of the corpus callosum
3480	IGF1R	HP:0009466	Radial deviation of finger
3480	IGF1R	HP:0003577	Congenital onset
3480	IGF1R	HP:0002209	Sparse scalp hair
3480	IGF1R	HP:0003510	Severe short stature
3480	IGF1R	HP:0200055	Small hand
3480	IGF1R	HP:0004279	Short palm
3480	IGF1R	HP:0001956	Truncal obesity
3480	IGF1R	HP:0001999	Abnormal facial shape
3480	IGF1R	HP:0000664	Synophrys
3480	IGF1R	HP:0004325	Decreased body weight
3480	IGF1R	HP:0004322	Short stature
3480	IGF1R	HP:0000767	Pectus excavatum
3480	IGF1R	HP:0000739	Anxiety
3480	IGF1R	HP:0000750	Delayed speech and language development
3480	IGF1R	HP:0000713	Agitation
3480	IGF1R	HP:0009125	Lipodystrophy
3480	IGF1R	HP:0000819	Diabetes mellitus
3480	IGF1R	HP:0009381	Short finger
3480	IGF1R	HP:0000278	Retrognathia
3480	IGF1R	HP:0030084	Clinodactyly
3480	IGF1R	HP:0000252	Microcephaly
3480	IGF1R	HP:0001547	Abnormal rib cage morphology
3480	IGF1R	HP:0000219	Thin upper lip vermilion
3480	IGF1R	HP:0000218	High palate
3480	IGF1R	HP:0000233	Thin vermilion border
3480	IGF1R	HP:0000232	Everted lower lip vermilion
3480	IGF1R	HP:0001511	Intrauterine growth retardation
3480	IGF1R	HP:0001510	Growth delay
3480	IGF1R	HP:0000369	Low-set ears
3480	IGF1R	HP:0000343	Long philtrum
3480	IGF1R	HP:0000347	Micrognathia
3480	IGF1R	HP:0000319	Smooth philtrum
3480	IGF1R	HP:0000325	Triangular face
3480	IGF1R	HP:0001655	Patent foramen ovale
3480	IGF1R	HP:0001629	Ventricular septal defect
3480	IGF1R	HP:0001620	High pitched voice
3480	IGF1R	HP:0001631	Atrial septal defect
3480	IGF1R	HP:0006610	Wide intermamillary distance
3480	IGF1R	HP:0000486	Strabismus
3480	IGF1R	HP:0000490	Deeply set eye
3480	IGF1R	HP:0000455	Broad nasal tip
3480	IGF1R	HP:0000465	Webbed neck
3480	IGF1R	HP:0001773	Short foot
3480	IGF1R	HP:0030269	Increased circulating insulin-like growth factor 1 concentration
3480	IGF1R	HP:0000431	Wide nasal bridge
3480	IGF1R	HP:0001852	Sandal gap
3480	IGF1R	HP:0000582	Upslanted palpebral fissure
3480	IGF1R	HP:0000558	Rieger anomaly
3480	IGF1R	HP:0000574	Thick eyebrow
3481	IGF2	HP:0001159	Syndactyly
3481	IGF2	HP:0002475	Myelomeningocele
3481	IGF2	HP:0007328	Impaired pain sensation
3481	IGF2	HP:0010957	Congenital posterior urethral valve
3481	IGF2	HP:0003745	Sporadic
3481	IGF2	HP:0001270	Motor delay
3481	IGF2	HP:0001256	Intellectual disability, mild
3481	IGF2	HP:0001250	Seizure
3481	IGF2	HP:0001252	Hypotonia
3481	IGF2	HP:0001249	Intellectual disability
3481	IGF2	HP:0001263	Global developmental delay
3481	IGF2	HP:0000062	Ambiguous genitalia
3481	IGF2	HP:0000076	Vesicoureteral reflux
3481	IGF2	HP:0000069	Abnormality of the ureter
3481	IGF2	HP:0000045	Abnormality of the scrotum
3481	IGF2	HP:0000048	Bifid scrotum
3481	IGF2	HP:0000047	Hypospadias
3481	IGF2	HP:0000023	Inguinal hernia
3481	IGF2	HP:0000028	Cryptorchidism
3481	IGF2	HP:0008897	Postnatal growth retardation
3481	IGF2	HP:0008872	Feeding difficulties in infancy
3481	IGF2	HP:0008846	Severe intrauterine growth retardation
3481	IGF2	HP:0001328	Specific learning disability
3481	IGF2	HP:0002667	Nephroblastoma
3481	IGF2	HP:0000006	Autosomal dominant inheritance
3481	IGF2	HP:0001305	Dandy-Walker malformation
3481	IGF2	HP:0002650	Scoliosis
3481	IGF2	HP:0000164	Abnormality of the dentition
3481	IGF2	HP:0000158	Macroglossia
3481	IGF2	HP:0000175	Cleft palate
3481	IGF2	HP:0001476	Delayed closure of the anterior fontanelle
3481	IGF2	HP:0000150	Gonadoblastoma
3481	IGF2	HP:0008947	Infantile muscular hypotonia
3481	IGF2	HP:0006277	Pancreatic hyperplasia
3481	IGF2	HP:0006266	Small placenta
3481	IGF2	HP:0000121	Nephrocalcinosis
3481	IGF2	HP:0001428	Somatic mutation
3481	IGF2	HP:0000105	Enlarged kidney
3481	IGF2	HP:0001402	Hepatocellular carcinoma
3481	IGF2	HP:0002750	Delayed skeletal maturation
3481	IGF2	HP:0002714	Downturned corners of mouth
3481	IGF2	HP:0002007	Frontal bossing
3481	IGF2	HP:0011800	Midface retrusion
3481	IGF2	HP:0002099	Asthma
3481	IGF2	HP:0100560	Upper limb asymmetry
3481	IGF2	HP:0100555	Asymmetric growth
3481	IGF2	HP:0100559	Lower limb asymmetry
3481	IGF2	HP:0010442	Polydactyly
3481	IGF2	HP:0008186	Adrenocortical cytomegaly
3481	IGF2	HP:0010481	Urethral valve
3481	IGF2	HP:0003577	Congenital onset
3481	IGF2	HP:0002240	Hepatomegaly
3481	IGF2	HP:0007018	Attention deficit hyperactivity disorder
3481	IGF2	HP:0011968	Feeding difficulties
3481	IGF2	HP:0001052	Nevus flammeus
3481	IGF2	HP:0008523	Posterior helix pit
3481	IGF2	HP:0100607	Dysmenorrhea
3481	IGF2	HP:0100617	Testicular seminoma
3481	IGF2	HP:0200055	Small hand
3481	IGF2	HP:0032165	Placental mesenchymal dysplasia
3481	IGF2	HP:0009760	Antecubital pterygium
3481	IGF2	HP:0004209	Clinodactyly of the 5th finger
3481	IGF2	HP:0004220	Short middle phalanx of the 5th finger
3481	IGF2	HP:0004227	Short distal phalanx of the 5th finger
3481	IGF2	HP:0001943	Hypoglycemia
3481	IGF2	HP:0000678	Dental crowding
3481	IGF2	HP:0001998	Neonatal hypoglycemia
3481	IGF2	HP:0004325	Decreased body weight
3481	IGF2	HP:0004322	Short stature
3481	IGF2	HP:0005616	Accelerated skeletal maturation
3481	IGF2	HP:0030680	Abnormality of cardiovascular system morphology
3481	IGF2	HP:0000808	Penoscrotal hypospadias
3481	IGF2	HP:0000803	Renal cortical cysts
3481	IGF2	HP:0012741	Unilateral cryptorchidism
3481	IGF2	HP:0000750	Delayed speech and language development
3481	IGF2	HP:0000787	Nephrolithiasis
3481	IGF2	HP:0004482	Relative macrocephaly
3481	IGF2	HP:0003162	Fasting hypoglycemia
3481	IGF2	HP:0000811	Abnormal external genitalia
3481	IGF2	HP:0000821	Hypothyroidism
3481	IGF2	HP:0000824	Decreased response to growth hormone stimulation test
3481	IGF2	HP:0009237	Short 5th finger
3481	IGF2	HP:0003247	Overgrowth of external genitalia
3481	IGF2	HP:0034391	Elbow contracture
3481	IGF2	HP:0000995	Melanocytic nevus
3481	IGF2	HP:0100257	Ectrodactyly
3481	IGF2	HP:0000975	Hyperhidrosis
3481	IGF2	HP:0000957	Cafe-au-lait spot
3481	IGF2	HP:0000280	Coarse facial features
3481	IGF2	HP:0000278	Retrognathia
3481	IGF2	HP:0000270	Delayed cranial suture closure
3481	IGF2	HP:0000269	Prominent occiput
3481	IGF2	HP:0030062	Craniopharyngioma
3481	IGF2	HP:0000240	Abnormality of skull size
3481	IGF2	HP:0000239	Large fontanelles
3481	IGF2	HP:0002884	Hepatoblastoma
3481	IGF2	HP:0001548	Overgrowth
3481	IGF2	HP:0000218	High palate
3481	IGF2	HP:0001562	Oligohydramnios
3481	IGF2	HP:0001558	Decreased fetal movement
3481	IGF2	HP:0001555	Asymmetry of the thorax
3481	IGF2	HP:0001528	Hemihypertrophy
3481	IGF2	HP:0001540	Diastasis recti
3481	IGF2	HP:0001537	Umbilical hernia
3481	IGF2	HP:0001539	Omphalocele
3481	IGF2	HP:0001508	Failure to thrive
3481	IGF2	HP:0001518	Small for gestational age
3481	IGF2	HP:0001511	Intrauterine growth retardation
3481	IGF2	HP:0000369	Low-set ears
3481	IGF2	HP:0000347	Micrognathia
3481	IGF2	HP:0001643	Patent ductus arteriosus
3481	IGF2	HP:0000331	Short chin
3481	IGF2	HP:0000325	Triangular face
3481	IGF2	HP:0000324	Facial asymmetry
3481	IGF2	HP:0001626	Abnormality of the cardiovascular system
3481	IGF2	HP:0001640	Cardiomegaly
3481	IGF2	HP:0001638	Cardiomyopathy
3481	IGF2	HP:0030260	Microphallus
3481	IGF2	HP:0000411	Protruding ear
3481	IGF2	HP:0001760	Abnormal foot morphology
3481	IGF2	HP:0006744	Adrenocortical carcinoma
3481	IGF2	HP:0005487	Prominent metopic ridge
3481	IGF2	HP:0005461	Craniofacial disproportion
3481	IGF2	HP:0000520	Proptosis
3481	IGF2	HP:0001804	Hypoplastic fingernail
3481	IGF2	HP:0000592	Blue sclerae
3481	IGF2	HP:0011220	Prominent forehead
3482	IGF2R	HP:0001428	Somatic mutation
3482	IGF2R	HP:0001402	Hepatocellular carcinoma
3482	IGF2R	HP:0001413	Micronodular cirrhosis
3482	IGF2R	HP:0006572	Subacute progressive viral hepatitis
3483	IGFALS	HP:0002750	Delayed skeletal maturation
3483	IGFALS	HP:0008189	Insulin insensitivity
3483	IGFALS	HP:0001956	Truncal obesity
3483	IGFALS	HP:0000855	Insulin resistance
3483	IGFALS	HP:0000823	Delayed puberty
3483	IGFALS	HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit concentration
3483	IGFALS	HP:0001530	Mild postnatal growth retardation
3483	IGFALS	HP:0001510	Growth delay
3483	IGFALS	HP:0000347	Micrognathia
3483	IGFALS	HP:0030353	Decreased serum insulin-like growth factor 1
3490	IGFBP7	HP:0025355	Retinal arterial macroaneurysms
3490	IGFBP7	HP:0000007	Autosomal recessive inheritance
3490	IGFBP7	HP:0012231	Exudative retinal detachment
3490	IGFBP7	HP:0001642	Pulmonic stenosis
3492	IGH	HP:0001287	Meningitis
3492	IGH	HP:0002585	Abnormality of the peritoneum
3492	IGH	HP:0002665	Lymphoma
3492	IGH	HP:0012191	B-cell lymphoma
3492	IGH	HP:0012123	Posterior uveitis
3492	IGH	HP:0002716	Lymphadenopathy
3492	IGH	HP:0002019	Constipation
3492	IGH	HP:0002017	Nausea and vomiting
3492	IGH	HP:0002027	Abdominal pain
3492	IGH	HP:0002039	Anorexia
3492	IGH	HP:0002113	Pulmonary infiltrates
3492	IGH	HP:0002202	Pleural effusion
3492	IGH	HP:0002205	Recurrent respiratory infections
3492	IGH	HP:0100721	Mediastinal lymphadenopathy
3492	IGH	HP:0001004	Lymphedema
3492	IGH	HP:0200036	Skin nodule
3492	IGH	HP:0005561	Abnormality of bone marrow cell morphology
3492	IGH	HP:0000614	Abnormal nasolacrimal system morphology
3492	IGH	HP:0001945	Fever
3492	IGH	HP:0001903	Anemia
3492	IGH	HP:0000820	Abnormality of the thyroid gland
3492	IGH	HP:0000975	Hyperhidrosis
3492	IGH	HP:0012378	Fatigue
3492	IGH	HP:0011024	Abnormality of the gastrointestinal tract
3492	IGH	HP:0030166	Night sweats
3492	IGH	HP:0001744	Splenomegaly
3492	IGH	HP:0001824	Weight loss
3492	IGH	HP:0000505	Visual impairment
3501	IGHG2	HP:0003765	Psoriasiform dermatitis
3501	IGHG2	HP:0032262	Pulmonary tuberculosis
3501	IGHG2	HP:0032275	Recurrent shingles
3501	IGHG2	HP:0100806	Sepsis
3501	IGHG2	HP:0001370	Rheumatoid arthritis
3501	IGHG2	HP:0001369	Arthritis
3501	IGHG2	HP:0000031	Epididymitis
3501	IGHG2	HP:0000010	Recurrent urinary tract infections
3501	IGHG2	HP:0002665	Lymphoma
3501	IGHG2	HP:0002608	Celiac disease
3501	IGHG2	HP:0500093	Food allergy
3501	IGHG2	HP:0002783	Recurrent lower respiratory tract infections
3501	IGHG2	HP:0002788	Recurrent upper respiratory tract infections
3501	IGHG2	HP:0002719	Recurrent infections
3501	IGHG2	HP:0002718	Recurrent bacterial infections
3501	IGHG2	HP:0002725	Systemic lupus erythematosus
3501	IGHG2	HP:0002720	Decreased circulating IgA level
3501	IGHG2	HP:0030998	Cerebrospinal fluid rhinorrhoea
3501	IGHG2	HP:0003326	Myalgia
3501	IGHG2	HP:0100523	Liver abscess
3501	IGHG2	HP:0002099	Asthma
3501	IGHG2	HP:0002090	Pneumonia
3501	IGHG2	HP:0002110	Bronchiectasis
3501	IGHG2	HP:0002205	Recurrent respiratory infections
3501	IGHG2	HP:0020096	Recurrent streptococcal infections
3501	IGHG2	HP:0001047	Atopic dermatitis
3501	IGHG2	HP:0001082	Cholecystitis
3501	IGHG2	HP:0032169	Severe infection
3501	IGHG2	HP:0004315	Decreased circulating IgG level
3501	IGHG2	HP:0003193	Allergic rhinitis
3501	IGHG2	HP:0100324	Scleroderma
3501	IGHG2	HP:0000819	Diabetes mellitus
3501	IGHG2	HP:0000988	Skin rash
3501	IGHG2	HP:0002829	Arthralgia
3501	IGHG2	HP:0002850	Decreased circulating total IgM
3501	IGHG2	HP:0012378	Fatigue
3501	IGHG2	HP:0012387	Bronchitis
3501	IGHG2	HP:0005231	Chronic gastritis
3501	IGHG2	HP:0006562	Viral hepatitis
3501	IGHG2	HP:0006532	Recurrent pneumonia
3501	IGHG2	HP:0030151	Cholangitis
3501	IGHG2	HP:0002960	Autoimmunity
3501	IGHG2	HP:0005353	Recurrent herpes
3501	IGHG2	HP:0000403	Recurrent otitis media
3501	IGHG2	HP:0012476	Decreased specific pneumococcal antibody level
3501	IGHG2	HP:0011109	Chronic sinusitis
3501	IGHG2	HP:0011110	Recurrent tonsillitis
3507	IGHM	HP:0008572	External ear malformation
3507	IGHM	HP:0100806	Sepsis
3507	IGHM	HP:0001287	Meningitis
3507	IGHM	HP:0010976	B lymphocytopenia
3507	IGHM	HP:0001369	Arthritis
3507	IGHM	HP:0000007	Autosomal recessive inheritance
3507	IGHM	HP:0012115	Hepatitis
3507	IGHM	HP:0002754	Osteomyelitis
3507	IGHM	HP:0002743	Recurrent enteroviral infections
3507	IGHM	HP:0002719	Recurrent infections
3507	IGHM	HP:0002718	Recurrent bacterial infections
3507	IGHM	HP:0002721	Immunodeficiency
3507	IGHM	HP:0002024	Malabsorption
3507	IGHM	HP:0002028	Chronic diarrhea
3507	IGHM	HP:0002014	Diarrhea
3507	IGHM	HP:0002110	Bronchiectasis
3507	IGHM	HP:0003593	Infantile onset
3507	IGHM	HP:0002205	Recurrent respiratory infections
3507	IGHM	HP:0100658	Cellulitis
3507	IGHM	HP:0200043	Verrucae
3507	IGHM	HP:0001944	Dehydration
3507	IGHM	HP:0001945	Fever
3507	IGHM	HP:0004313	Decreased circulating antibody level
3507	IGHM	HP:0012735	Cough
3507	IGHM	HP:0011463	Childhood onset
3507	IGHM	HP:0004432	Agammaglobulinemia
3507	IGHM	HP:0003139	Panhypogammaglobulinemia
3507	IGHM	HP:0000988	Skin rash
3507	IGHM	HP:0000286	Epicanthus
3507	IGHM	HP:0001581	Recurrent skin infections
3507	IGHM	HP:0000246	Sinusitis
3507	IGHM	HP:0000218	High palate
3507	IGHM	HP:0001508	Failure to thrive
3507	IGHM	HP:0012378	Fatigue
3507	IGHM	HP:0000389	Chronic otitis media
3507	IGHM	HP:0005224	Rectal abscess
3507	IGHM	HP:0006532	Recurrent pneumonia
3507	IGHM	HP:0000316	Hypertelorism
3507	IGHM	HP:0000403	Recurrent otitis media
3507	IGHM	HP:0011108	Recurrent sinusitis
3507	IGHM	HP:0000509	Conjunctivitis
3507	IGHM	HP:0001875	Neutropenia
3508	IGHMBP2	HP:0002460	Distal muscle weakness
3508	IGHMBP2	HP:0007269	Spinal muscular atrophy
3508	IGHMBP2	HP:0003701	Proximal muscle weakness
3508	IGHMBP2	HP:0001288	Gait disturbance
3508	IGHMBP2	HP:0001265	Hyporeflexia
3508	IGHMBP2	HP:0007340	Lower limb muscle weakness
3508	IGHMBP2	HP:0002522	Areflexia of lower limbs
3508	IGHMBP2	HP:0012046	Areflexia of upper limbs
3508	IGHMBP2	HP:0000020	Urinary incontinence
3508	IGHMBP2	HP:0000007	Autosomal recessive inheritance
3508	IGHMBP2	HP:0002650	Scoliosis
3508	IGHMBP2	HP:0001319	Neonatal hypotonia
3508	IGHMBP2	HP:0002789	Tachypnea
3508	IGHMBP2	HP:0002019	Constipation
3508	IGHMBP2	HP:0005946	Ventilator dependence with inability to wean
3508	IGHMBP2	HP:0003376	Steppage gait
3508	IGHMBP2	HP:0003484	Upper limb muscle weakness
3508	IGHMBP2	HP:0003445	EMG: neuropathic changes
3508	IGHMBP2	HP:0100490	Camptodactyly of finger
3508	IGHMBP2	HP:0003577	Congenital onset
3508	IGHMBP2	HP:0002398	Degeneration of anterior horn cells
3508	IGHMBP2	HP:0003693	Distal amyotrophy
3508	IGHMBP2	HP:0003690	Limb muscle weakness
3508	IGHMBP2	HP:0003677	Slowly progressive
3508	IGHMBP2	HP:0007141	Sensorimotor neuropathy
3508	IGHMBP2	HP:0003621	Juvenile onset
3508	IGHMBP2	HP:0009027	Foot dorsiflexor weakness
3508	IGHMBP2	HP:0009109	Denervation of the diaphragm
3508	IGHMBP2	HP:0000762	Decreased nerve conduction velocity
3508	IGHMBP2	HP:0000764	Peripheral axonal degeneration
3508	IGHMBP2	HP:0011463	Childhood onset
3508	IGHMBP2	HP:0009110	Diaphragmatic eventration
3508	IGHMBP2	HP:0009113	Diaphragmatic weakness
3508	IGHMBP2	HP:0040078	Axonal degeneration
3508	IGHMBP2	HP:0000975	Hyperhidrosis
3508	IGHMBP2	HP:0002878	Respiratory failure
3508	IGHMBP2	HP:0001558	Decreased fetal movement
3508	IGHMBP2	HP:0001508	Failure to thrive
3508	IGHMBP2	HP:0001518	Small for gestational age
3508	IGHMBP2	HP:0001511	Intrauterine growth retardation
3508	IGHMBP2	HP:0006597	Diaphragmatic paralysis
3508	IGHMBP2	HP:0002936	Distal sensory impairment
3508	IGHMBP2	HP:0001612	Weak cry
3508	IGHMBP2	HP:0001622	Premature birth
3508	IGHMBP2	HP:0005348	Inspiratory stridor
3508	IGHMBP2	HP:0012473	Tongue atrophy
3508	IGHMBP2	HP:0001762	Talipes equinovarus
3514	IGKC	HP:0003765	Psoriasiform dermatitis
3514	IGKC	HP:0032262	Pulmonary tuberculosis
3514	IGKC	HP:0032275	Recurrent shingles
3514	IGKC	HP:0100806	Sepsis
3514	IGKC	HP:0001370	Rheumatoid arthritis
3514	IGKC	HP:0001369	Arthritis
3514	IGKC	HP:0000031	Epididymitis
3514	IGKC	HP:0000010	Recurrent urinary tract infections
3514	IGKC	HP:0000007	Autosomal recessive inheritance
3514	IGKC	HP:0002665	Lymphoma
3514	IGKC	HP:0002608	Celiac disease
3514	IGKC	HP:0500093	Food allergy
3514	IGKC	HP:0002783	Recurrent lower respiratory tract infections
3514	IGKC	HP:0002788	Recurrent upper respiratory tract infections
3514	IGKC	HP:0002719	Recurrent infections
3514	IGKC	HP:0002718	Recurrent bacterial infections
3514	IGKC	HP:0002725	Systemic lupus erythematosus
3514	IGKC	HP:0002720	Decreased circulating IgA level
3514	IGKC	HP:0002028	Chronic diarrhea
3514	IGKC	HP:0030998	Cerebrospinal fluid rhinorrhoea
3514	IGKC	HP:0003326	Myalgia
3514	IGKC	HP:0002014	Diarrhea
3514	IGKC	HP:0100523	Liver abscess
3514	IGKC	HP:0002099	Asthma
3514	IGKC	HP:0002090	Pneumonia
3514	IGKC	HP:0002110	Bronchiectasis
3514	IGKC	HP:0002205	Recurrent respiratory infections
3514	IGKC	HP:0010701	Abnormal immunoglobulin level
3514	IGKC	HP:0020096	Recurrent streptococcal infections
3514	IGKC	HP:0001047	Atopic dermatitis
3514	IGKC	HP:0001082	Cholecystitis
3514	IGKC	HP:0032169	Severe infection
3514	IGKC	HP:0004315	Decreased circulating IgG level
3514	IGKC	HP:0011463	Childhood onset
3514	IGKC	HP:0003193	Allergic rhinitis
3514	IGKC	HP:0100324	Scleroderma
3514	IGKC	HP:0000819	Diabetes mellitus
3514	IGKC	HP:0000988	Skin rash
3514	IGKC	HP:0002829	Arthralgia
3514	IGKC	HP:0002850	Decreased circulating total IgM
3514	IGKC	HP:0012378	Fatigue
3514	IGKC	HP:0012387	Bronchitis
3514	IGKC	HP:0005231	Chronic gastritis
3514	IGKC	HP:0006562	Viral hepatitis
3514	IGKC	HP:0006532	Recurrent pneumonia
3514	IGKC	HP:0030151	Cholangitis
3514	IGKC	HP:0002960	Autoimmunity
3514	IGKC	HP:0005353	Recurrent herpes
3514	IGKC	HP:0000403	Recurrent otitis media
3514	IGKC	HP:0012476	Decreased specific pneumococcal antibody level
3514	IGKC	HP:0011109	Chronic sinusitis
3514	IGKC	HP:0011110	Recurrent tonsillitis
3516	RBPJ	HP:0001171	Split hand
3516	RBPJ	HP:0001156	Brachydactyly
3516	RBPJ	HP:0009882	Short distal phalanx of finger
3516	RBPJ	HP:0001276	Hypertonia
3516	RBPJ	HP:0001269	Hemiparesis
3516	RBPJ	HP:0001256	Intellectual disability, mild
3516	RBPJ	HP:0001250	Seizure
3516	RBPJ	HP:0001249	Intellectual disability
3516	RBPJ	HP:0006101	Finger syndactyly
3516	RBPJ	HP:0001394	Cirrhosis
3516	RBPJ	HP:0001362	Calvarial skull defect
3516	RBPJ	HP:0000006	Autosomal dominant inheritance
3516	RBPJ	HP:0002612	Congenital hepatic fibrosis
3516	RBPJ	HP:0001409	Portal hypertension
3516	RBPJ	HP:0004691	2-3 toe syndactyly
3516	RBPJ	HP:0002084	Encephalocele
3516	RBPJ	HP:0002092	Pulmonary arterial hypertension
3516	RBPJ	HP:0002040	Esophageal varix
3516	RBPJ	HP:0005916	Abnormal metacarpal morphology
3516	RBPJ	HP:0002132	Porencephalic cyst
3516	RBPJ	HP:0011917	Short 5th toe
3516	RBPJ	HP:0002194	Delayed gross motor development
3516	RBPJ	HP:0003577	Congenital onset
3516	RBPJ	HP:0002239	Gastrointestinal hemorrhage
3516	RBPJ	HP:0010624	Aplastic/hypoplastic toenail
3516	RBPJ	HP:0008398	Hypoplastic fifth fingernail
3516	RBPJ	HP:0001057	Aplasia cutis congenita
3516	RBPJ	HP:0002353	EEG abnormality
3516	RBPJ	HP:0010760	Absent toe
3516	RBPJ	HP:0010743	Short metatarsal
3516	RBPJ	HP:0004935	Pulmonary artery atresia
3516	RBPJ	HP:0004279	Short palm
3516	RBPJ	HP:0006970	Periventricular leukomalacia
3516	RBPJ	HP:0012745	Short palpebral fissure
3516	RBPJ	HP:0100026	Arteriovenous malformation
3516	RBPJ	HP:0000965	Cutis marmorata
3516	RBPJ	HP:0008070	Sparse hair
3516	RBPJ	HP:0008065	Aplasia/Hypoplasia of the skin
3516	RBPJ	HP:0001596	Alopecia
3516	RBPJ	HP:0002817	Abnormality of the upper limb
3516	RBPJ	HP:0002814	Abnormality of the lower limb
3516	RBPJ	HP:0000238	Hydrocephalus
3516	RBPJ	HP:0000252	Microcephaly
3516	RBPJ	HP:0001541	Ascites
3516	RBPJ	HP:0001508	Failure to thrive
3516	RBPJ	HP:0001622	Premature birth
3516	RBPJ	HP:0001641	Abnormal pulmonary valve morphology
3516	RBPJ	HP:0001636	Tetralogy of Fallot
3516	RBPJ	HP:0004050	Absent hand
3516	RBPJ	HP:0000486	Strabismus
3516	RBPJ	HP:0000518	Cataract
3516	RBPJ	HP:0001804	Hypoplastic fingernail
3516	RBPJ	HP:0001817	Absent fingernail
3516	RBPJ	HP:0000568	Microphthalmia
3516	RBPJ	HP:0001883	Talipes
3516	RBPJ	HP:0001882	Leukopenia
3516	RBPJ	HP:0001873	Thrombocytopenia
3543	IGLL1	HP:0008572	External ear malformation
3543	IGLL1	HP:0100806	Sepsis
3543	IGLL1	HP:0001287	Meningitis
3543	IGLL1	HP:0001369	Arthritis
3543	IGLL1	HP:0000007	Autosomal recessive inheritance
3543	IGLL1	HP:0012115	Hepatitis
3543	IGLL1	HP:0002754	Osteomyelitis
3543	IGLL1	HP:0002719	Recurrent infections
3543	IGLL1	HP:0002718	Recurrent bacterial infections
3543	IGLL1	HP:0002720	Decreased circulating IgA level
3543	IGLL1	HP:0002721	Immunodeficiency
3543	IGLL1	HP:0002024	Malabsorption
3543	IGLL1	HP:0002014	Diarrhea
3543	IGLL1	HP:0002110	Bronchiectasis
3543	IGLL1	HP:0003593	Infantile onset
3543	IGLL1	HP:0002205	Recurrent respiratory infections
3543	IGLL1	HP:0100658	Cellulitis
3543	IGLL1	HP:0200043	Verrucae
3543	IGLL1	HP:0001944	Dehydration
3543	IGLL1	HP:0001945	Fever
3543	IGLL1	HP:0012735	Cough
3543	IGLL1	HP:0004432	Agammaglobulinemia
3543	IGLL1	HP:0000988	Skin rash
3543	IGLL1	HP:0000286	Epicanthus
3543	IGLL1	HP:0001581	Recurrent skin infections
3543	IGLL1	HP:0000246	Sinusitis
3543	IGLL1	HP:0000218	High palate
3543	IGLL1	HP:0001508	Failure to thrive
3543	IGLL1	HP:0002850	Decreased circulating total IgM
3543	IGLL1	HP:0002843	Abnormal T cell morphology
3543	IGLL1	HP:0012378	Fatigue
3543	IGLL1	HP:0000389	Chronic otitis media
3543	IGLL1	HP:0006532	Recurrent pneumonia
3543	IGLL1	HP:0000316	Hypertelorism
3543	IGLL1	HP:0000403	Recurrent otitis media
3543	IGLL1	HP:0030252	Absent circulating B cells
3543	IGLL1	HP:0000509	Conjunctivitis
3543	IGLL1	HP:0001875	Neutropenia
3547	IGSF1	HP:0001419	X-linked recessive inheritance
3547	IGSF1	HP:0008202	Reduced circulating prolactin concentration
3547	IGSF1	HP:0000821	Hypothyroidism
3547	IGSF1	HP:0033075	Inappropriately normal thyroid-stimulating hormone level
3547	IGSF1	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test
3547	IGSF1	HP:0025502	Overweight
3549	IHH	HP:0001169	Broad palm
3549	IHH	HP:0001156	Brachydactyly
3549	IHH	HP:0009882	Short distal phalanx of finger
3549	IHH	HP:0001249	Intellectual disability
3549	IHH	HP:0001230	Broad metacarpals
3549	IHH	HP:0100864	Short femoral neck
3549	IHH	HP:0006059	Cone-shaped metacarpal epiphyses
3549	IHH	HP:0001204	Distal symphalangism of hands
3549	IHH	HP:0001216	Delayed ossification of carpal bones
3549	IHH	HP:0006236	Slender metacarpals
3549	IHH	HP:0008873	Disproportionate short-limb short stature
3549	IHH	HP:0006213	Thin proximal phalanges with broad epiphyses of the hand
3549	IHH	HP:0006165	Proportionate shortening of all digits
3549	IHH	HP:0006146	Broad metacarpal epiphyses
3549	IHH	HP:0008789	Cone-shaped capital femoral epiphysis
3549	IHH	HP:0000007	Autosomal recessive inheritance
3549	IHH	HP:0000006	Autosomal dominant inheritance
3549	IHH	HP:0002652	Skeletal dysplasia
3549	IHH	HP:0002650	Scoliosis
3549	IHH	HP:0002750	Delayed skeletal maturation
3549	IHH	HP:0003367	Abnormal femoral neck morphology
3549	IHH	HP:0003307	Hyperlordosis
3549	IHH	HP:0003300	Ovoid vertebral bodies
3549	IHH	HP:0009462	Radial deviation of the 3rd finger
3549	IHH	HP:0009467	Radial deviation of the 2nd finger
3549	IHH	HP:0003498	Disproportionate short stature
3549	IHH	HP:0010575	Dysplasia of the femoral head
3549	IHH	HP:0010579	Cone-shaped epiphysis
3549	IHH	HP:0009638	Short proximal phalanx of thumb
3549	IHH	HP:0001032	Absent distal interphalangeal creases
3549	IHH	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
3549	IHH	HP:0009778	Short thumb
3549	IHH	HP:0004209	Clinodactyly of the 5th finger
3549	IHH	HP:0004279	Short palm
3549	IHH	HP:0010049	Short metacarpal
3549	IHH	HP:0010017	Cone-shaped epiphysis of the 1st metacarpal
3549	IHH	HP:0004322	Short stature
3549	IHH	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
3549	IHH	HP:0003022	Hypoplasia of the ulna
3549	IHH	HP:0000767	Pectus excavatum
3549	IHH	HP:0000768	Pectus carinatum
3549	IHH	HP:0010109	Short hallux
3549	IHH	HP:0010107	Short proximal phalanx of hallux
3549	IHH	HP:0000774	Narrow chest
3549	IHH	HP:0000773	Short ribs
3549	IHH	HP:0005736	Short tibia
3549	IHH	HP:0004482	Relative macrocephaly
3549	IHH	HP:0005792	Short humerus
3549	IHH	HP:0000887	Cupped ribs
3549	IHH	HP:0003099	Fibular overgrowth
3549	IHH	HP:0003097	Short femur
3549	IHH	HP:0009279	Radial deviation of the 4th finger
3549	IHH	HP:0010241	Short proximal phalanx of finger
3549	IHH	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
3549	IHH	HP:0010306	Short thorax
3549	IHH	HP:0005819	Short middle phalanx of finger
3549	IHH	HP:0000256	Macrocephaly
3549	IHH	HP:0006438	Enlargement of the distal femoral epiphysis
3549	IHH	HP:0002812	Coxa vara
3549	IHH	HP:0002869	Flared iliac wing
3549	IHH	HP:0002866	Hypoplastic iliac wing
3549	IHH	HP:0030033	Small finger
3549	IHH	HP:0002938	Lumbar hyperlordosis
3549	IHH	HP:0005194	Flattened metatarsal heads
3549	IHH	HP:0002983	Micromelia
3549	IHH	HP:0002984	Hypoplasia of the radius
3549	IHH	HP:0002970	Genu varum
3549	IHH	HP:0001792	Small nail
3549	IHH	HP:0001773	Short foot
3549	IHH	HP:0001762	Talipes equinovarus
3549	IHH	HP:0001821	Broad nail
3551	IKBKB	HP:0000007	Autosomal recessive inheritance
3551	IKBKB	HP:0000006	Autosomal dominant inheritance
3551	IKBKB	HP:0031292	Cutaneous abscess
3551	IKBKB	HP:0002719	Recurrent infections
3551	IKBKB	HP:0002728	Chronic mucocutaneous candidiasis
3551	IKBKB	HP:0002721	Immunodeficiency
3551	IKBKB	HP:0002028	Chronic diarrhea
3551	IKBKB	HP:0003593	Infantile onset
3551	IKBKB	HP:0002205	Recurrent respiratory infections
3551	IKBKB	HP:0009098	Chronic oral candidiasis
3551	IKBKB	HP:0004313	Decreased circulating antibody level
3551	IKBKB	HP:0011463	Childhood onset
3551	IKBKB	HP:0004432	Agammaglobulinemia
3551	IKBKB	HP:0040218	Reduced natural killer cell count
3551	IKBKB	HP:0040154	Acne inversa
3551	IKBKB	HP:0001522	Death in infancy
3551	IKBKB	HP:0001508	Failure to thrive
3551	IKBKB	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
3551	IKBKB	HP:0012311	Monocytosis
3551	IKBKB	HP:0000403	Recurrent otitis media
3551	IKBKB	HP:0011108	Recurrent sinusitis
3551	IKBKB	HP:0005407	Decreased proportion of CD4-positive helper T cells
3551	IKBKB	HP:0005415	Decreased proportion of CD8-positive T cells
3551	IKBKB	HP:0030374	Decreased proportion of memory B cells
3553	IL1B	HP:0012126	Stomach cancer
3553	IL1B	HP:0410067	Increased level of L-fucose in urine
3553	IL1B	HP:0001428	Somatic mutation
3557	IL1RN	HP:0025116	Fetal distress
3557	IL1RN	HP:0001270	Motor delay
3557	IL1RN	HP:0001386	Joint swelling
3557	IL1RN	HP:0000007	Autosomal recessive inheritance
3557	IL1RN	HP:0012126	Stomach cancer
3557	IL1RN	HP:0002797	Osteolysis
3557	IL1RN	HP:0410067	Increased level of L-fucose in urine
3557	IL1RN	HP:0001428	Somatic mutation
3557	IL1RN	HP:0002754	Osteomyelitis
3557	IL1RN	HP:0002098	Respiratory distress
3557	IL1RN	HP:0011897	Neutrophilia
3557	IL1RN	HP:0002240	Hepatomegaly
3557	IL1RN	HP:0003565	Elevated erythrocyte sedimentation rate
3557	IL1RN	HP:0002206	Pulmonary fibrosis
3557	IL1RN	HP:0025092	Epidermal acanthosis
3557	IL1RN	HP:0200039	Pustule
3557	IL1RN	HP:0003623	Neonatal onset
3557	IL1RN	HP:0000904	Flaring of rib cage
3557	IL1RN	HP:0000885	Broad ribs
3557	IL1RN	HP:0010280	Stomatitis
3557	IL1RN	HP:0000988	Skin rash
3557	IL1RN	HP:0000962	Hyperkeratosis
3557	IL1RN	HP:0000938	Osteopenia
3557	IL1RN	HP:0040165	Periostitis
3557	IL1RN	HP:0002829	Arthralgia
3557	IL1RN	HP:0001531	Failure to thrive in infancy
3557	IL1RN	HP:0002949	Fused cervical vertebrae
3557	IL1RN	HP:0025615	Abscess
3557	IL1RN	HP:0001744	Splenomegaly
3557	IL1RN	HP:0011227	Elevated circulating C-reactive protein concentration
3559	IL2RA	HP:0001155	Abnormality of the hand
3559	IL2RA	HP:0003765	Psoriasiform dermatitis
3559	IL2RA	HP:0033582	Pulmonary interstitial lymphocyte infiltration
3559	IL2RA	HP:0010976	B lymphocytopenia
3559	IL2RA	HP:0001371	Flexion contracture
3559	IL2RA	HP:0001370	Rheumatoid arthritis
3559	IL2RA	HP:0001369	Arthritis
3559	IL2RA	HP:0001386	Joint swelling
3559	IL2RA	HP:0001387	Joint stiffness
3559	IL2RA	HP:0001382	Joint hypermobility
3559	IL2RA	HP:0001384	Abnormal hip joint morphology
3559	IL2RA	HP:0008850	Severe postnatal growth retardation
3559	IL2RA	HP:0008843	Hip osteoarthritis
3559	IL2RA	HP:0000007	Autosomal recessive inheritance
3559	IL2RA	HP:0007663	Reduced visual acuity
3559	IL2RA	HP:0001433	Hepatosplenomegaly
3559	IL2RA	HP:0002718	Recurrent bacterial infections
3559	IL2RA	HP:0002716	Lymphadenopathy
3559	IL2RA	HP:0002720	Decreased circulating IgA level
3559	IL2RA	HP:0002721	Immunodeficiency
3559	IL2RA	HP:0002028	Chronic diarrhea
3559	IL2RA	HP:0040313	Oligoarthritis
3559	IL2RA	HP:0003326	Myalgia
3559	IL2RA	HP:0003319	Abnormality of the cervical spine
3559	IL2RA	HP:0002113	Pulmonary infiltrates
3559	IL2RA	HP:0011911	Abnormal metacarpophalangeal joint morphology
3559	IL2RA	HP:0003493	Antinuclear antibody positivity
3559	IL2RA	HP:0033222	Decreased CD4:CD8 ratio
3559	IL2RA	HP:0003565	Elevated erythrocyte sedimentation rate
3559	IL2RA	HP:0002232	Patchy alopecia
3559	IL2RA	HP:0002205	Recurrent respiratory infections
3559	IL2RA	HP:0100769	Synovitis
3559	IL2RA	HP:0002289	Alopecia universalis
3559	IL2RA	HP:0001019	Erythroderma
3559	IL2RA	HP:0100651	Type I diabetes mellitus
3559	IL2RA	HP:0100646	Thyroiditis
3559	IL2RA	HP:0100658	Cellulitis
3559	IL2RA	HP:0001094	Iridocyclitis
3559	IL2RA	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells
3559	IL2RA	HP:0100686	Enthesitis
3559	IL2RA	HP:0010754	Abnormality of the temporomandibular joint
3559	IL2RA	HP:0032170	Severe varicella zoster infection
3559	IL2RA	HP:0009098	Chronic oral candidiasis
3559	IL2RA	HP:0001903	Anemia
3559	IL2RA	HP:0003028	Abnormality of the ankle
3559	IL2RA	HP:0003043	Abnormal shoulder morphology
3559	IL2RA	HP:0003019	Abnormality of the wrist
3559	IL2RA	HP:0011473	Villous atrophy
3559	IL2RA	HP:0004429	Recurrent viral infections
3559	IL2RA	HP:0030782	Abnormal circulating interleukin concentration
3559	IL2RA	HP:0000819	Diabetes mellitus
3559	IL2RA	HP:0000821	Hypothyroidism
3559	IL2RA	HP:0003212	Increased circulating IgE level
3559	IL2RA	HP:0030812	Enlarged tonsils
3559	IL2RA	HP:0000964	Eczema
3559	IL2RA	HP:0040189	Scaling skin
3559	IL2RA	HP:0002829	Arthralgia
3559	IL2RA	HP:0005086	Knee osteoarthritis
3559	IL2RA	HP:0001531	Failure to thrive in infancy
3559	IL2RA	HP:0001530	Mild postnatal growth retardation
3559	IL2RA	HP:0001508	Failure to thrive
3559	IL2RA	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3
3559	IL2RA	HP:0002848	Decreased specific anti-polysaccharide antibody level
3559	IL2RA	HP:0002841	Recurrent fungal infections
3559	IL2RA	HP:0007833	Anterior chamber synechiae
3559	IL2RA	HP:0005186	Synovial hypertrophy
3559	IL2RA	HP:0002960	Autoimmunity
3559	IL2RA	HP:0011134	Low-grade fever
3559	IL2RA	HP:0011120	Concave nasal ridge
3559	IL2RA	HP:0001785	Ankle swelling
3559	IL2RA	HP:0005403	T lymphocytopenia
3559	IL2RA	HP:0000518	Cataract
3559	IL2RA	HP:0001824	Weight loss
3559	IL2RA	HP:0001832	Abnormal metatarsal morphology
3559	IL2RA	HP:0000501	Glaucoma
3559	IL2RA	HP:0000585	Band keratopathy
3559	IL2RA	HP:0030356	Increased circulating interferon-gamma concentration
3559	IL2RA	HP:0001890	Autoimmune hemolytic anemia
3559	IL2RA	HP:0011220	Prominent forehead
3559	IL2RA	HP:0000554	Uveitis
3559	IL2RA	HP:0000572	Visual loss
3559	IL2RA	HP:0001878	Hemolytic anemia
3560	IL2RB	HP:0001155	Abnormality of the hand
3560	IL2RB	HP:0032247	Persistent CMV viremia
3560	IL2RB	HP:0001371	Flexion contracture
3560	IL2RB	HP:0001370	Rheumatoid arthritis
3560	IL2RB	HP:0001369	Arthritis
3560	IL2RB	HP:0001386	Joint swelling
3560	IL2RB	HP:0001387	Joint stiffness
3560	IL2RB	HP:0001382	Joint hypermobility
3560	IL2RB	HP:0001384	Abnormal hip joint morphology
3560	IL2RB	HP:0008850	Severe postnatal growth retardation
3560	IL2RB	HP:0008843	Hip osteoarthritis
3560	IL2RB	HP:0000010	Recurrent urinary tract infections
3560	IL2RB	HP:0000007	Autosomal recessive inheritance
3560	IL2RB	HP:0007663	Reduced visual acuity
3560	IL2RB	HP:0001433	Hepatosplenomegaly
3560	IL2RB	HP:0002716	Lymphadenopathy
3560	IL2RB	HP:0002721	Immunodeficiency
3560	IL2RB	HP:0040313	Oligoarthritis
3560	IL2RB	HP:0003326	Myalgia
3560	IL2RB	HP:0002014	Diarrhea
3560	IL2RB	HP:0003319	Abnormality of the cervical spine
3560	IL2RB	HP:0011911	Abnormal metacarpophalangeal joint morphology
3560	IL2RB	HP:0003493	Antinuclear antibody positivity
3560	IL2RB	HP:0033222	Decreased CD4:CD8 ratio
3560	IL2RB	HP:0003593	Infantile onset
3560	IL2RB	HP:0002240	Hepatomegaly
3560	IL2RB	HP:0003565	Elevated erythrocyte sedimentation rate
3560	IL2RB	HP:0002205	Recurrent respiratory infections
3560	IL2RB	HP:0100769	Synovitis
3560	IL2RB	HP:0001094	Iridocyclitis
3560	IL2RB	HP:0100686	Enthesitis
3560	IL2RB	HP:0010754	Abnormality of the temporomandibular joint
3560	IL2RB	HP:0001903	Anemia
3560	IL2RB	HP:0003028	Abnormality of the ankle
3560	IL2RB	HP:0003043	Abnormal shoulder morphology
3560	IL2RB	HP:0003019	Abnormality of the wrist
3560	IL2RB	HP:0030782	Abnormal circulating interleukin concentration
3560	IL2RB	HP:0003237	Increased circulating IgG level
3560	IL2RB	HP:0008064	Ichthyosis
3560	IL2RB	HP:0002829	Arthralgia
3560	IL2RB	HP:0005086	Knee osteoarthritis
3560	IL2RB	HP:0001558	Decreased fetal movement
3560	IL2RB	HP:0001530	Mild postnatal growth retardation
3560	IL2RB	HP:0001508	Failure to thrive
3560	IL2RB	HP:0007833	Anterior chamber synechiae
3560	IL2RB	HP:0006527	Lymphocytic interstitial pneumonia
3560	IL2RB	HP:0005186	Synovial hypertrophy
3560	IL2RB	HP:0002960	Autoimmunity
3560	IL2RB	HP:0000403	Recurrent otitis media
3560	IL2RB	HP:0011134	Low-grade fever
3560	IL2RB	HP:0001785	Ankle swelling
3560	IL2RB	HP:0001744	Splenomegaly
3560	IL2RB	HP:0000518	Cataract
3560	IL2RB	HP:0001824	Weight loss
3560	IL2RB	HP:0001832	Abnormal metatarsal morphology
3560	IL2RB	HP:0000501	Glaucoma
3560	IL2RB	HP:0000585	Band keratopathy
3560	IL2RB	HP:0030356	Increased circulating interferon-gamma concentration
3560	IL2RB	HP:0001890	Autoimmune hemolytic anemia
3560	IL2RB	HP:0000554	Uveitis
3560	IL2RB	HP:0000572	Visual loss
3561	IL2RG	HP:0007274	Recurrent bacterial meningitis
3561	IL2RG	HP:0100806	Sepsis
3561	IL2RG	HP:0100840	Aplasia/Hypoplasia of the eyebrow
3561	IL2RG	HP:0010975	Abnormal B cell count
3561	IL2RG	HP:0007549	Desquamation of skin soon after birth
3561	IL2RG	HP:0002665	Lymphoma
3561	IL2RG	HP:0012178	Reduced natural killer cell activity
3561	IL2RG	HP:0000100	Nephrotic syndrome
3561	IL2RG	HP:0002732	Lymph node hypoplasia
3561	IL2RG	HP:0001419	X-linked recessive inheritance
3561	IL2RG	HP:0002718	Recurrent bacterial infections
3561	IL2RG	HP:0002716	Lymphadenopathy
3561	IL2RG	HP:0002728	Chronic mucocutaneous candidiasis
3561	IL2RG	HP:0002720	Decreased circulating IgA level
3561	IL2RG	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
3561	IL2RG	HP:0002028	Chronic diarrhea
3561	IL2RG	HP:0002014	Diarrhea
3561	IL2RG	HP:0002090	Pneumonia
3561	IL2RG	HP:0003593	Infantile onset
3561	IL2RG	HP:0002240	Hepatomegaly
3561	IL2RG	HP:0010701	Abnormal immunoglobulin level
3561	IL2RG	HP:0001019	Erythroderma
3561	IL2RG	HP:0100646	Thyroiditis
3561	IL2RG	HP:0001072	Thickened skin
3561	IL2RG	HP:0003623	Neonatal onset
3561	IL2RG	HP:0005523	Lymphoproliferative disorder
3561	IL2RG	HP:0009098	Chronic oral candidiasis
3561	IL2RG	HP:0001974	Leukocytosis
3561	IL2RG	HP:0001945	Fever
3561	IL2RG	HP:0001954	Recurrent fever
3561	IL2RG	HP:0001903	Anemia
3561	IL2RG	HP:0011370	Recurrent cutaneous fungal infections
3561	IL2RG	HP:0004315	Decreased circulating IgG level
3561	IL2RG	HP:0004332	Abnormal lymphocyte morphology
3561	IL2RG	HP:0012735	Cough
3561	IL2RG	HP:0000778	Hypoplasia of the thymus
3561	IL2RG	HP:0004432	Agammaglobulinemia
3561	IL2RG	HP:0004430	Severe combined immunodeficiency
3561	IL2RG	HP:0000821	Hypothyroidism
3561	IL2RG	HP:0040089	Abnormal natural killer cell count
3561	IL2RG	HP:0003237	Increased circulating IgG level
3561	IL2RG	HP:0040218	Reduced natural killer cell count
3561	IL2RG	HP:0030813	Absent tonsils
3561	IL2RG	HP:0045080	Decreased proportion of CD3-positive T cells
3561	IL2RG	HP:0000989	Pruritus
3561	IL2RG	HP:0000988	Skin rash
3561	IL2RG	HP:0000958	Dry skin
3561	IL2RG	HP:0000952	Jaundice
3561	IL2RG	HP:0000969	Edema
3561	IL2RG	HP:0000944	Abnormal metaphysis morphology
3561	IL2RG	HP:0001596	Alopecia
3561	IL2RG	HP:0031397	Decreased proportion of naive T cells
3561	IL2RG	HP:0000246	Sinusitis
3561	IL2RG	HP:0001508	Failure to thrive
3561	IL2RG	HP:0002837	Recurrent bronchitis
3561	IL2RG	HP:0002850	Decreased circulating total IgM
3561	IL2RG	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
3561	IL2RG	HP:0002841	Recurrent fungal infections
3561	IL2RG	HP:0000388	Otitis media
3561	IL2RG	HP:0006532	Recurrent pneumonia
3561	IL2RG	HP:0002960	Autoimmunity
3561	IL2RG	HP:0005376	Recurrent Haemophilus influenzae infections
3561	IL2RG	HP:0005387	Combined immunodeficiency
3561	IL2RG	HP:0005353	Recurrent herpes
3561	IL2RG	HP:0031545	Abnormally low T cell receptor excision circle level
3561	IL2RG	HP:0001744	Splenomegaly
3561	IL2RG	HP:0005407	Decreased proportion of CD4-positive helper T cells
3561	IL2RG	HP:0005406	Recurrent bacterial skin infections
3561	IL2RG	HP:0005415	Decreased proportion of CD8-positive T cells
3561	IL2RG	HP:0005403	T lymphocytopenia
3561	IL2RG	HP:0005479	Decreased circulating IgE
3561	IL2RG	HP:0005428	Severe recurrent varicella
3561	IL2RG	HP:0001831	Short toe
3561	IL2RG	HP:0005390	Recurrent opportunistic infections
3561	IL2RG	HP:0001888	Lymphopenia
3561	IL2RG	HP:0001880	Eosinophilia
3566	IL4R	HP:0000006	Autosomal dominant inheritance
3566	IL4R	HP:0002099	Asthma
3566	IL4R	HP:0003193	Allergic rhinitis
3566	IL4R	HP:0003212	Increased circulating IgE level
3566	IL4R	HP:0000964	Eczema
3569	IL6	HP:0002408	Cerebral arteriovenous malformation
3569	IL6	HP:0002591	Polyphagia
3569	IL6	HP:0001386	Joint swelling
3569	IL6	HP:0002664	Neoplasm
3569	IL6	HP:0000006	Autosomal dominant inheritance
3569	IL6	HP:0012122	Anterior uveitis
3569	IL6	HP:0410050	Decreased level of 1,5 anhydroglucitol in serum
3569	IL6	HP:0001426	Multifactorial inheritance
3569	IL6	HP:0001428	Somatic mutation
3569	IL6	HP:0000103	Polyuria
3569	IL6	HP:0002716	Lymphadenopathy
3569	IL6	HP:0002037	Inflammation of the large intestine
3569	IL6	HP:0002027	Abdominal pain
3569	IL6	HP:0002014	Diarrhea
3569	IL6	HP:0005978	Type II diabetes mellitus
3569	IL6	HP:0002240	Hepatomegaly
3569	IL6	HP:0003584	Late onset
3569	IL6	HP:0003565	Elevated erythrocyte sedimentation rate
3569	IL6	HP:0002202	Pleural effusion
3569	IL6	HP:0100726	Kaposi's sarcoma
3569	IL6	HP:0001034	Hypermelanotic macule
3569	IL6	HP:0032154	Aphthous ulcer
3569	IL6	HP:0031819	Increased waist to hip ratio
3569	IL6	HP:0001945	Fever
3569	IL6	HP:0001959	Polydipsia
3569	IL6	HP:0001993	Ketoacidosis
3569	IL6	HP:0003074	Hyperglycemia
3569	IL6	HP:0005681	Juvenile rheumatoid arthritis
3569	IL6	HP:0000855	Insulin resistance
3569	IL6	HP:0000819	Diabetes mellitus
3569	IL6	HP:0100280	Crohn's disease
3569	IL6	HP:0100279	Ulcerative colitis
3569	IL6	HP:0000988	Skin rash
3569	IL6	HP:0000969	Edema
3569	IL6	HP:0002829	Arthralgia
3569	IL6	HP:0001510	Growth delay
3569	IL6	HP:0005214	Intestinal obstruction
3569	IL6	HP:0002960	Autoimmunity
3569	IL6	HP:0001701	Pericarditis
3569	IL6	HP:0011107	Recurrent aphthous stomatitis
3569	IL6	HP:0001744	Splenomegaly
3569	IL6	HP:0001824	Weight loss
3569	IL6	HP:0011227	Elevated circulating C-reactive protein concentration
3570	IL6R	HP:0000007	Autosomal recessive inheritance
3570	IL6R	HP:0032437	Reduced circulating C-reactive protein concecntration
3570	IL6R	HP:0031292	Cutaneous abscess
3570	IL6R	HP:0002788	Recurrent upper respiratory tract infections
3570	IL6R	HP:0033104	Inappropriate absence of fever
3570	IL6R	HP:0003593	Infantile onset
3570	IL6R	HP:0001047	Atopic dermatitis
3570	IL6R	HP:0100658	Cellulitis
3570	IL6R	HP:0004315	Decreased circulating IgG level
3570	IL6R	HP:0030783	Increased circulating interleukin 6 concentration
3570	IL6R	HP:0003212	Increased circulating IgE level
3570	IL6R	HP:0001581	Recurrent skin infections
3570	IL6R	HP:0002850	Decreased circulating total IgM
3570	IL6R	HP:0000403	Recurrent otitis media
3570	IL6R	HP:0030388	Decreased proportion of class-switched memory B cells
3572	IL6ST	HP:0010885	Avascular necrosis
3572	IL6ST	HP:0001270	Motor delay
3572	IL6ST	HP:0001217	Clubbing
3572	IL6ST	HP:0003826	Stillbirth
3572	IL6ST	HP:0003811	Neonatal death
3572	IL6ST	HP:0001382	Joint hypermobility
3572	IL6ST	HP:0001363	Craniosynostosis
3572	IL6ST	HP:0002659	Increased susceptibility to fractures
3572	IL6ST	HP:0000007	Autosomal recessive inheritance
3572	IL6ST	HP:0000006	Autosomal dominant inheritance
3572	IL6ST	HP:0002650	Scoliosis
3572	IL6ST	HP:0032434	Delayed umbilical cord separation
3572	IL6ST	HP:0000158	Macroglossia
3572	IL6ST	HP:0006335	Persistence of primary teeth
3572	IL6ST	HP:0500093	Food allergy
3572	IL6ST	HP:0031292	Cutaneous abscess
3572	IL6ST	HP:0002780	Bronchomalacia
3572	IL6ST	HP:0025419	Pulmonary pneumatocele
3572	IL6ST	HP:0002788	Recurrent upper respiratory tract infections
3572	IL6ST	HP:0001442	Somatic mosaicism
3572	IL6ST	HP:0001433	Hepatosplenomegaly
3572	IL6ST	HP:0002716	Lymphadenopathy
3572	IL6ST	HP:0002728	Chronic mucocutaneous candidiasis
3572	IL6ST	HP:0002720	Decreased circulating IgA level
3572	IL6ST	HP:0002028	Chronic diarrhea
3572	IL6ST	HP:0002002	Deep philtrum
3572	IL6ST	HP:0002015	Dysphagia
3572	IL6ST	HP:0002098	Respiratory distress
3572	IL6ST	HP:0002099	Asthma
3572	IL6ST	HP:0002092	Pulmonary arterial hypertension
3572	IL6ST	HP:0009473	Joint contracture of the hand
3572	IL6ST	HP:0002110	Bronchiectasis
3572	IL6ST	HP:0003593	Infantile onset
3572	IL6ST	HP:0002205	Recurrent respiratory infections
3572	IL6ST	HP:0002280	Enlarged cisterna magna
3572	IL6ST	HP:0033332	Elevated circulating amyloid A
3572	IL6ST	HP:0010614	Fibroma
3572	IL6ST	HP:0001047	Atopic dermatitis
3572	IL6ST	HP:0003621	Juvenile onset
3572	IL6ST	HP:0005521	Disseminated intravascular coagulation
3572	IL6ST	HP:0001935	Microcytic anemia
3572	IL6ST	HP:0000678	Dental crowding
3572	IL6ST	HP:0004322	Short stature
3572	IL6ST	HP:0004315	Decreased circulating IgG level
3572	IL6ST	HP:0004313	Decreased circulating antibody level
3572	IL6ST	HP:0003040	Arthropathy
3572	IL6ST	HP:0003026	Short long bone
3572	IL6ST	HP:0000768	Pectus carinatum
3572	IL6ST	HP:0011463	Childhood onset
3572	IL6ST	HP:0011461	Fetal onset
3572	IL6ST	HP:0012758	Neurodevelopmental delay
3572	IL6ST	HP:0011421	Death in adolescence
3572	IL6ST	HP:0030799	Scaphocephaly
3572	IL6ST	HP:0000821	Hypothyroidism
3572	IL6ST	HP:0003212	Increased circulating IgE level
3572	IL6ST	HP:0040218	Reduced natural killer cell count
3572	IL6ST	HP:0000998	Hypertrichosis
3572	IL6ST	HP:0000964	Eczema
3572	IL6ST	HP:0000256	Macrocephaly
3572	IL6ST	HP:0002827	Hip dislocation
3572	IL6ST	HP:0001581	Recurrent skin infections
3572	IL6ST	HP:0000218	High palate
3572	IL6ST	HP:0002850	Decreased circulating total IgM
3572	IL6ST	HP:0001511	Intrauterine growth retardation
3572	IL6ST	HP:0011069	Supernumerary tooth
3572	IL6ST	HP:0012385	Camptodactyly
3572	IL6ST	HP:0005257	Thoracic hypoplasia
3572	IL6ST	HP:0006532	Recurrent pneumonia
3572	IL6ST	HP:0002944	Thoracolumbar scoliosis
3572	IL6ST	HP:0006487	Bowing of the long bones
3572	IL6ST	HP:0000358	Posteriorly rotated ears
3572	IL6ST	HP:0000369	Low-set ears
3572	IL6ST	HP:0000316	Hypertelorism
3572	IL6ST	HP:0001653	Mitral regurgitation
3572	IL6ST	HP:0001635	Congestive heart failure
3572	IL6ST	HP:0002967	Cubitus valgus
3572	IL6ST	HP:0000303	Mandibular prognathia
3572	IL6ST	HP:0000403	Recurrent otitis media
3572	IL6ST	HP:0005280	Depressed nasal bridge
3572	IL6ST	HP:0000494	Downslanted palpebral fissures
3572	IL6ST	HP:0000491	Keratitis
3572	IL6ST	HP:0000463	Anteverted nares
3572	IL6ST	HP:0000470	Short neck
3572	IL6ST	HP:0001762	Talipes equinovarus
3572	IL6ST	HP:0011227	Elevated circulating C-reactive protein concentration
3572	IL6ST	HP:0011220	Prominent forehead
3572	IL6ST	HP:0001888	Lymphopenia
3572	IL6ST	HP:0001880	Eosinophilia
3572	IL6ST	HP:0001873	Thrombocytopenia
3572	IL6ST	HP:0001875	Neutropenia
3574	IL7	HP:0007565	Multiple cafe-au-lait spots
3574	IL7	HP:0000007	Autosomal recessive inheritance
3574	IL7	HP:0002715	Abnormality of the immune system
3574	IL7	HP:0100585	Telangiectasia of the skin
3574	IL7	HP:0001051	Seborrheic dermatitis
3574	IL7	HP:0001053	Hypopigmented skin patches
3574	IL7	HP:0200035	Skin plaque
3574	IL7	HP:0200034	Papule
3574	IL7	HP:0200039	Pustule
3574	IL7	HP:0200043	Verrucae
3574	IL7	HP:0020114	Persistent human papillomavirus infection
3574	IL7	HP:0032160	Cryptococcal meningitis
3574	IL7	HP:0001581	Recurrent skin infections
3574	IL7	HP:0002860	Squamous cell carcinoma
3574	IL7	HP:0006739	Squamous cell carcinoma of the skin
3574	IL7	HP:0005403	T lymphocytopenia
3574	IL7	HP:0001888	Lymphopenia
3575	IL7R	HP:0100806	Sepsis
3575	IL7R	HP:0100827	Lymphocytosis
3575	IL7R	HP:0100840	Aplasia/Hypoplasia of the eyebrow
3575	IL7R	HP:0007549	Desquamation of skin soon after birth
3575	IL7R	HP:0008866	Failure to thrive secondary to recurrent infections
3575	IL7R	HP:0000007	Autosomal recessive inheritance
3575	IL7R	HP:0002665	Lymphoma
3575	IL7R	HP:0000155	Oral ulcer
3575	IL7R	HP:0002783	Recurrent lower respiratory tract infections
3575	IL7R	HP:0002788	Recurrent upper respiratory tract infections
3575	IL7R	HP:0000100	Nephrotic syndrome
3575	IL7R	HP:0001433	Hepatosplenomegaly
3575	IL7R	HP:0002719	Recurrent infections
3575	IL7R	HP:0002716	Lymphadenopathy
3575	IL7R	HP:0002728	Chronic mucocutaneous candidiasis
3575	IL7R	HP:0002020	Gastroesophageal reflux
3575	IL7R	HP:0002028	Chronic diarrhea
3575	IL7R	HP:0002014	Diarrhea
3575	IL7R	HP:0002090	Pneumonia
3575	IL7R	HP:0003593	Infantile onset
3575	IL7R	HP:0002240	Hepatomegaly
3575	IL7R	HP:0010702	Increased circulating antibody level
3575	IL7R	HP:0001019	Erythroderma
3575	IL7R	HP:0100646	Thyroiditis
3575	IL7R	HP:0001072	Thickened skin
3575	IL7R	HP:0001973	Autoimmune thrombocytopenia
3575	IL7R	HP:0001974	Leukocytosis
3575	IL7R	HP:0001945	Fever
3575	IL7R	HP:0001903	Anemia
3575	IL7R	HP:0004332	Abnormal lymphocyte morphology
3575	IL7R	HP:0004430	Severe combined immunodeficiency
3575	IL7R	HP:0004429	Recurrent viral infections
3575	IL7R	HP:0000821	Hypothyroidism
3575	IL7R	HP:0003237	Increased circulating IgG level
3575	IL7R	HP:0003212	Increased circulating IgE level
3575	IL7R	HP:0045080	Decreased proportion of CD3-positive T cells
3575	IL7R	HP:0003261	Increased circulating IgA level
3575	IL7R	HP:0000989	Pruritus
3575	IL7R	HP:0000958	Dry skin
3575	IL7R	HP:0000969	Edema
3575	IL7R	HP:0000964	Eczema
3575	IL7R	HP:0000944	Abnormal metaphysis morphology
3575	IL7R	HP:0040187	Neonatal sepsis
3575	IL7R	HP:0001596	Alopecia
3575	IL7R	HP:0025526	Psoriasiform lesion
3575	IL7R	HP:0001508	Failure to thrive
3575	IL7R	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
3575	IL7R	HP:0000388	Otitis media
3575	IL7R	HP:0002960	Autoimmunity
3575	IL7R	HP:0000403	Recurrent otitis media
3575	IL7R	HP:0001744	Splenomegaly
3575	IL7R	HP:0005407	Decreased proportion of CD4-positive helper T cells
3575	IL7R	HP:0005415	Decreased proportion of CD8-positive T cells
3575	IL7R	HP:0005403	T lymphocytopenia
3575	IL7R	HP:0005401	Recurrent candida infections
3575	IL7R	HP:0001831	Short toe
3575	IL7R	HP:0005390	Recurrent opportunistic infections
3575	IL7R	HP:0001888	Lymphopenia
3575	IL7R	HP:0001880	Eosinophilia
3575	IL7R	HP:0001875	Neutropenia
3579	CXCR2	HP:0410252	Chronic neutropenia
3579	CXCR2	HP:0031160	Myelokathexis
3579	CXCR2	HP:0000007	Autosomal recessive inheritance
3579	CXCR2	HP:0032169	Severe infection
3579	CXCR2	HP:0011463	Childhood onset
3579	CXCR2	HP:0034284	Recurrent gingivitis
3579	CXCR2	HP:0001636	Tetralogy of Fallot
3586	IL10	HP:0007256	Abnormal pyramidal sign
3586	IL10	HP:0010885	Avascular necrosis
3586	IL10	HP:0100820	Glomerulopathy
3586	IL10	HP:0001269	Hemiparesis
3586	IL10	HP:0001287	Meningitis
3586	IL10	HP:0001289	Confusion
3586	IL10	HP:0001288	Gait disturbance
3586	IL10	HP:0001250	Seizure
3586	IL10	HP:0001251	Ataxia
3586	IL10	HP:0002516	Increased intracranial pressure
3586	IL10	HP:0000083	Renal insufficiency
3586	IL10	HP:0001370	Rheumatoid arthritis
3586	IL10	HP:0001369	Arthritis
3586	IL10	HP:0001386	Joint swelling
3586	IL10	HP:0001387	Joint stiffness
3586	IL10	HP:0001347	Hyperreflexia
3586	IL10	HP:0006150	Swan neck-like deformities of the fingers
3586	IL10	HP:0002637	Cerebral ischemia
3586	IL10	HP:0002633	Vasculitis
3586	IL10	HP:0000155	Oral ulcer
3586	IL10	HP:0001482	Subcutaneous nodule
3586	IL10	HP:0006252	Interphalangeal joint erosions
3586	IL10	HP:0002716	Lymphadenopathy
3586	IL10	HP:0002024	Malabsorption
3586	IL10	HP:0002017	Nausea and vomiting
3586	IL10	HP:0002027	Abdominal pain
3586	IL10	HP:0003326	Myalgia
3586	IL10	HP:0002076	Migraine
3586	IL10	HP:0002039	Anorexia
3586	IL10	HP:0100584	Endocarditis
3586	IL10	HP:0002102	Pleuritis
3586	IL10	HP:0002113	Pulmonary infiltrates
3586	IL10	HP:0002105	Hemoptysis
3586	IL10	HP:0003401	Paresthesia
3586	IL10	HP:0002239	Gastrointestinal hemorrhage
3586	IL10	HP:0003565	Elevated erythrocyte sedimentation rate
3586	IL10	HP:0002202	Pleural effusion
3586	IL10	HP:0002204	Pulmonary embolism
3586	IL10	HP:0100796	Orchitis
3586	IL10	HP:0100758	Gangrene
3586	IL10	HP:0002383	Infectious encephalitis
3586	IL10	HP:0001061	Acne
3586	IL10	HP:0002376	Developmental regression
3586	IL10	HP:0002354	Memory impairment
3586	IL10	HP:0002321	Vertigo
3586	IL10	HP:0100653	Optic neuritis
3586	IL10	HP:0100654	Retrobulbar optic neuritis
3586	IL10	HP:0200034	Papule
3586	IL10	HP:0001097	Keratoconjunctivitis sicca
3586	IL10	HP:0100614	Myositis
3586	IL10	HP:0004936	Venous thrombosis
3586	IL10	HP:0006824	Cranial nerve paralysis
3586	IL10	HP:0000618	Blindness
3586	IL10	HP:0000613	Photophobia
3586	IL10	HP:0001945	Fever
3586	IL10	HP:0012649	Increased inflammatory response
3586	IL10	HP:0000737	Irritability
3586	IL10	HP:0000708	Atypical behavior
3586	IL10	HP:0004420	Arterial thrombosis
3586	IL10	HP:0005764	Polyarticular arthritis
3586	IL10	HP:0100326	Immunologic hypersensitivity
3586	IL10	HP:0033034	Anti-citrullinated protein antibody positivity
3586	IL10	HP:0008066	Abnormal blistering of the skin
3586	IL10	HP:0012276	Digital flexor tenosynovitis
3586	IL10	HP:0002829	Arthralgia
3586	IL10	HP:0012378	Fatigue
3586	IL10	HP:0002923	Rheumatoid factor positive
3586	IL10	HP:0001658	Myocardial infarction
3586	IL10	HP:0001659	Aortic regurgitation
3586	IL10	HP:0001653	Mitral regurgitation
3586	IL10	HP:0001637	Abnormal myocardium morphology
3586	IL10	HP:0001733	Pancreatitis
3586	IL10	HP:0001701	Pericarditis
3586	IL10	HP:0000488	Retinopathy
3586	IL10	HP:0011107	Recurrent aphthous stomatitis
3586	IL10	HP:0001744	Splenomegaly
3586	IL10	HP:0000518	Cataract
3586	IL10	HP:0001824	Weight loss
3586	IL10	HP:0011227	Elevated circulating C-reactive protein concentration
3587	IL10RA	HP:0002583	Colitis
3587	IL10RA	HP:0002573	Hematochezia
3587	IL10RA	HP:0000007	Autosomal recessive inheritance
3587	IL10RA	HP:0000155	Oral ulcer
3587	IL10RA	HP:0025084	Folliculitis
3587	IL10RA	HP:0009789	Perianal abscess
3587	IL10RA	HP:0004387	Enterocolitis
3587	IL10RA	HP:0000999	Pyoderma
3587	IL10RA	HP:0100280	Crohn's disease
3587	IL10RA	HP:0001510	Growth delay
3588	IL10RB	HP:0000007	Autosomal recessive inheritance
3588	IL10RB	HP:0000143	Rectovaginal fistula
3588	IL10RB	HP:0033256	Pancolitis
3588	IL10RB	HP:0033279	Enterocutaneous fistula
3588	IL10RB	HP:0003593	Infantile onset
3588	IL10RB	HP:0025084	Folliculitis
3588	IL10RB	HP:0009789	Perianal abscess
3588	IL10RB	HP:0004387	Enterocolitis
3588	IL10RB	HP:0002837	Recurrent bronchitis
3590	IL11RA	HP:0001250	Seizure
3590	IL11RA	HP:0000007	Autosomal recessive inheritance
3590	IL11RA	HP:0000189	Narrow palate
3590	IL11RA	HP:0004691	2-3 toe syndactyly
3590	IL11RA	HP:0002007	Frontal bossing
3590	IL11RA	HP:0011800	Midface retrusion
3590	IL11RA	HP:0003396	Syringomyelia
3590	IL11RA	HP:0100798	Fingernail dysplasia
3590	IL11RA	HP:0009803	Short phalanx of finger
3590	IL11RA	HP:0001085	Papilledema
3590	IL11RA	HP:0002308	Chiari malformation
3590	IL11RA	HP:0010055	Broad hallux
3590	IL11RA	HP:0000684	Delayed eruption of teeth
3590	IL11RA	HP:0000678	Dental crowding
3590	IL11RA	HP:0011330	Metopic synostosis
3590	IL11RA	HP:0000689	Dental malocclusion
3590	IL11RA	HP:0004322	Short stature
3590	IL11RA	HP:0011455	Absent malleus
3590	IL11RA	HP:0011463	Childhood onset
3590	IL11RA	HP:0004443	Lambdoidal craniosynostosis
3590	IL11RA	HP:0004442	Sagittal craniosynostosis
3590	IL11RA	HP:0004440	Coronal craniosynostosis
3590	IL11RA	HP:0004439	Craniofacial dysostosis
3590	IL11RA	HP:0004425	Flat forehead
3590	IL11RA	HP:0030799	Scaphocephaly
3590	IL11RA	HP:0000263	Oxycephaly
3590	IL11RA	HP:0000262	Turricephaly
3590	IL11RA	HP:0000268	Dolichocephaly
3590	IL11RA	HP:0030084	Clinodactyly
3590	IL11RA	HP:0000243	Trigonocephaly
3590	IL11RA	HP:0000248	Brachycephaly
3590	IL11RA	HP:0000218	High palate
3590	IL11RA	HP:0011069	Supernumerary tooth
3590	IL11RA	HP:0000381	Stapes ankylosis
3590	IL11RA	HP:0000389	Chronic otitis media
3590	IL11RA	HP:0000340	Sloping forehead
3590	IL11RA	HP:0000348	High forehead
3590	IL11RA	HP:0000316	Hypertelorism
3590	IL11RA	HP:0000327	Hypoplasia of the maxilla
3590	IL11RA	HP:0000303	Mandibular prognathia
3590	IL11RA	HP:0000405	Conductive hearing impairment
3590	IL11RA	HP:0005280	Depressed nasal bridge
3590	IL11RA	HP:0000494	Downslanted palpebral fissures
3590	IL11RA	HP:0000444	Convex nasal ridge
3590	IL11RA	HP:0000445	Wide nose
3590	IL11RA	HP:0005487	Prominent metopic ridge
3590	IL11RA	HP:0005469	Flat occiput
3590	IL11RA	HP:0000520	Proptosis
3590	IL11RA	HP:0001822	Hallux valgus
3592	IL12A	HP:0007256	Abnormal pyramidal sign
3592	IL12A	HP:0010885	Avascular necrosis
3592	IL12A	HP:0001278	Orthostatic hypotension
3592	IL12A	HP:0100820	Glomerulopathy
3592	IL12A	HP:0001269	Hemiparesis
3592	IL12A	HP:0001287	Meningitis
3592	IL12A	HP:0001289	Confusion
3592	IL12A	HP:0001288	Gait disturbance
3592	IL12A	HP:0001250	Seizure
3592	IL12A	HP:0001251	Ataxia
3592	IL12A	HP:0001262	Excessive daytime somnolence
3592	IL12A	HP:0002516	Increased intracranial pressure
3592	IL12A	HP:0000083	Renal insufficiency
3592	IL12A	HP:0001399	Hepatic failure
3592	IL12A	HP:0001395	Hepatic fibrosis
3592	IL12A	HP:0001394	Cirrhosis
3592	IL12A	HP:0001369	Arthritis
3592	IL12A	HP:0001347	Hyperreflexia
3592	IL12A	HP:0002637	Cerebral ischemia
3592	IL12A	HP:0002633	Vasculitis
3592	IL12A	HP:0002613	Biliary cirrhosis
3592	IL12A	HP:0002608	Celiac disease
3592	IL12A	HP:0000155	Oral ulcer
3592	IL12A	HP:0001482	Subcutaneous nodule
3592	IL12A	HP:0012115	Hepatitis
3592	IL12A	HP:0001409	Portal hypertension
3592	IL12A	HP:0001402	Hepatocellular carcinoma
3592	IL12A	HP:0002716	Lymphadenopathy
3592	IL12A	HP:0002024	Malabsorption
3592	IL12A	HP:0002017	Nausea and vomiting
3592	IL12A	HP:0002027	Abdominal pain
3592	IL12A	HP:0003326	Myalgia
3592	IL12A	HP:0002076	Migraine
3592	IL12A	HP:0002039	Anorexia
3592	IL12A	HP:0100584	Endocarditis
3592	IL12A	HP:0002102	Pleuritis
3592	IL12A	HP:0002113	Pulmonary infiltrates
3592	IL12A	HP:0002105	Hemoptysis
3592	IL12A	HP:0003496	Increased circulating IgM level
3592	IL12A	HP:0003493	Antinuclear antibody positivity
3592	IL12A	HP:0003401	Paresthesia
3592	IL12A	HP:0002239	Gastrointestinal hemorrhage
3592	IL12A	HP:0002202	Pleural effusion
3592	IL12A	HP:0002204	Pulmonary embolism
3592	IL12A	HP:0100796	Orchitis
3592	IL12A	HP:0100758	Gangrene
3592	IL12A	HP:0011971	Dermatographic urticaria
3592	IL12A	HP:0002383	Infectious encephalitis
3592	IL12A	HP:0001061	Acne
3592	IL12A	HP:0002360	Sleep disturbance
3592	IL12A	HP:0002376	Developmental regression
3592	IL12A	HP:0002354	Memory impairment
3592	IL12A	HP:0002321	Vertigo
3592	IL12A	HP:0100653	Optic neuritis
3592	IL12A	HP:0100654	Retrobulbar optic neuritis
3592	IL12A	HP:0200034	Papule
3592	IL12A	HP:0001097	Keratoconjunctivitis sicca
3592	IL12A	HP:0100614	Myositis
3592	IL12A	HP:0004936	Venous thrombosis
3592	IL12A	HP:0006824	Cranial nerve paralysis
3592	IL12A	HP:0000618	Blindness
3592	IL12A	HP:0000613	Photophobia
3592	IL12A	HP:0001945	Fever
3592	IL12A	HP:0012649	Increased inflammatory response
3592	IL12A	HP:0003073	Hypoalbuminemia
3592	IL12A	HP:0004386	Gastrointestinal inflammation
3592	IL12A	HP:0000737	Irritability
3592	IL12A	HP:0000708	Atypical behavior
3592	IL12A	HP:0003119	Abnormal circulating lipid concentration
3592	IL12A	HP:0004420	Arterial thrombosis
3592	IL12A	HP:0003155	Elevated circulating alkaline phosphatase concentration
3592	IL12A	HP:0100326	Immunologic hypersensitivity
3592	IL12A	HP:0000820	Abnormality of the thyroid gland
3592	IL12A	HP:0003270	Abdominal distention
3592	IL12A	HP:0003261	Increased circulating IgA level
3592	IL12A	HP:0000989	Pruritus
3592	IL12A	HP:0000953	Hyperpigmentation of the skin
3592	IL12A	HP:0000952	Jaundice
3592	IL12A	HP:0000939	Osteoporosis
3592	IL12A	HP:0008066	Abnormal blistering of the skin
3592	IL12A	HP:0002829	Arthralgia
3592	IL12A	HP:0012203	Onychomycosis
3592	IL12A	HP:0001541	Ascites
3592	IL12A	HP:0002841	Recurrent fungal infections
3592	IL12A	HP:0012378	Fatigue
3592	IL12A	HP:0011040	Abnormal intrahepatic bile duct morphology
3592	IL12A	HP:0002908	Conjugated hyperbilirubinemia
3592	IL12A	HP:0001658	Myocardial infarction
3592	IL12A	HP:0001659	Aortic regurgitation
3592	IL12A	HP:0001653	Mitral regurgitation
3592	IL12A	HP:0002960	Autoimmunity
3592	IL12A	HP:0001637	Abnormal myocardium morphology
3592	IL12A	HP:0001733	Pancreatitis
3592	IL12A	HP:0001701	Pericarditis
3592	IL12A	HP:0000488	Retinopathy
3592	IL12A	HP:0011107	Recurrent aphthous stomatitis
3592	IL12A	HP:0001744	Splenomegaly
3592	IL12A	HP:0000518	Cataract
3592	IL12A	HP:0001824	Weight loss
3593	IL12B	HP:0001250	Seizure
3593	IL12B	HP:0001369	Arthritis
3593	IL12B	HP:0001324	Muscle weakness
3593	IL12B	HP:0000007	Autosomal recessive inheritance
3593	IL12B	HP:0002637	Cerebral ischemia
3593	IL12B	HP:0002633	Vasculitis
3593	IL12B	HP:0002617	Vascular dilatation
3593	IL12B	HP:0001482	Subcutaneous nodule
3593	IL12B	HP:0002793	Abnormal pattern of respiration
3593	IL12B	HP:0002721	Immunodeficiency
3593	IL12B	HP:0003326	Myalgia
3593	IL12B	HP:0100533	Inflammatory abnormality of the eye
3593	IL12B	HP:0100545	Arterial stenosis
3593	IL12B	HP:0002092	Pulmonary arterial hypertension
3593	IL12B	HP:0002076	Migraine
3593	IL12B	HP:0002039	Anorexia
3593	IL12B	HP:0100576	Amaurosis fugax
3593	IL12B	HP:0002105	Hemoptysis
3593	IL12B	HP:0002167	Abnormality of speech or vocalization
3593	IL12B	HP:0003593	Infantile onset
3593	IL12B	HP:0100735	Hypertensive crisis
3593	IL12B	HP:0100749	Chest pain
3593	IL12B	HP:0100758	Gangrene
3593	IL12B	HP:0020086	BCGitis
3593	IL12B	HP:0200042	Skin ulcer
3593	IL12B	HP:0004970	Ascending tubular aorta aneurysm
3593	IL12B	HP:0001945	Fever
3593	IL12B	HP:0001903	Anemia
3593	IL12B	HP:0012649	Increased inflammatory response
3593	IL12B	HP:0004306	Abnormal endocardium morphology
3593	IL12B	HP:0004372	Reduced consciousness/confusion
3593	IL12B	HP:0000822	Hypertension
3593	IL12B	HP:0000975	Hyperhidrosis
3593	IL12B	HP:0002829	Arthralgia
3593	IL12B	HP:0012378	Fatigue
3593	IL12B	HP:0005244	Gastrointestinal infarctions
3593	IL12B	HP:0001646	Abnormal aortic valve morphology
3593	IL12B	HP:0001658	Myocardial infarction
3593	IL12B	HP:0001654	Abnormal heart valve morphology
3593	IL12B	HP:0001639	Hypertrophic cardiomyopathy
3593	IL12B	HP:0000488	Retinopathy
3593	IL12B	HP:0001824	Weight loss
3594	IL12RB1	HP:0032249	Coccidioidomycosis
3594	IL12RB1	HP:0032256	Histoplasmosis
3594	IL12RB1	HP:0032283	Disseminated nontuberculous mycobacterial infection
3594	IL12RB1	HP:0001278	Orthostatic hypotension
3594	IL12RB1	HP:0001262	Excessive daytime somnolence
3594	IL12RB1	HP:0007408	Tegumentary leishmaniasis susceptibility
3594	IL12RB1	HP:0001399	Hepatic failure
3594	IL12RB1	HP:0001395	Hepatic fibrosis
3594	IL12RB1	HP:0001394	Cirrhosis
3594	IL12RB1	HP:0000007	Autosomal recessive inheritance
3594	IL12RB1	HP:0002613	Biliary cirrhosis
3594	IL12RB1	HP:0002608	Celiac disease
3594	IL12RB1	HP:0012115	Hepatitis
3594	IL12RB1	HP:0001409	Portal hypertension
3594	IL12RB1	HP:0001402	Hepatocellular carcinoma
3594	IL12RB1	HP:0002742	Recurrent Klebsiella infections
3594	IL12RB1	HP:0002719	Recurrent infections
3594	IL12RB1	HP:0002721	Immunodeficiency
3594	IL12RB1	HP:0002090	Pneumonia
3594	IL12RB1	HP:0003496	Increased circulating IgM level
3594	IL12RB1	HP:0003493	Antinuclear antibody positivity
3594	IL12RB1	HP:0011971	Dermatographic urticaria
3594	IL12RB1	HP:0020087	BCGosis
3594	IL12RB1	HP:0002360	Sleep disturbance
3594	IL12RB1	HP:0200029	Vasculitis in the skin
3594	IL12RB1	HP:0020105	Severe toxoplasmosis
3594	IL12RB1	HP:0005661	Salmonella osteomyelitis
3594	IL12RB1	HP:0003073	Hypoalbuminemia
3594	IL12RB1	HP:0004386	Gastrointestinal inflammation
3594	IL12RB1	HP:0003119	Abnormal circulating lipid concentration
3594	IL12RB1	HP:0030782	Abnormal circulating interleukin concentration
3594	IL12RB1	HP:0003155	Elevated circulating alkaline phosphatase concentration
3594	IL12RB1	HP:0000820	Abnormality of the thyroid gland
3594	IL12RB1	HP:0003270	Abdominal distention
3594	IL12RB1	HP:0003261	Increased circulating IgA level
3594	IL12RB1	HP:0000989	Pruritus
3594	IL12RB1	HP:0000953	Hyperpigmentation of the skin
3594	IL12RB1	HP:0000952	Jaundice
3594	IL12RB1	HP:0000939	Osteoporosis
3594	IL12RB1	HP:0012203	Onychomycosis
3594	IL12RB1	HP:0001541	Ascites
3594	IL12RB1	HP:0002840	Lymphadenitis
3594	IL12RB1	HP:0002841	Recurrent fungal infections
3594	IL12RB1	HP:0012378	Fatigue
3594	IL12RB1	HP:0011040	Abnormal intrahepatic bile duct morphology
3594	IL12RB1	HP:0002908	Conjugated hyperbilirubinemia
3594	IL12RB1	HP:0002960	Autoimmunity
3594	IL12RB1	HP:0005401	Recurrent candida infections
3594	IL12RB1	HP:0011274	Recurrent mycobacterial infections
3596	IL13	HP:0000006	Autosomal dominant inheritance
3596	IL13	HP:0001426	Multifactorial inheritance
3596	IL13	HP:0002099	Asthma
3596	IL13	HP:4000007	Bronchoconstriction
3596	IL13	HP:0032933	Airway hyperresponsiveness
3612	IMPA1	HP:0001249	Intellectual disability
3612	IMPA1	HP:0000007	Autosomal recessive inheritance
3612	IMPA1	HP:0011999	Paranoia
3612	IMPA1	HP:0000718	Aggressive behavior
3614	IMPDH1	HP:0001133	Constriction of peripheral visual field
3614	IMPDH1	HP:0001141	Severely reduced visual acuity
3614	IMPDH1	HP:0001250	Seizure
3614	IMPDH1	HP:0001252	Hypotonia
3614	IMPDH1	HP:0001249	Intellectual disability
3614	IMPDH1	HP:0001263	Global developmental delay
3614	IMPDH1	HP:0008736	Hypoplasia of penis
3614	IMPDH1	HP:0001347	Hyperreflexia
3614	IMPDH1	HP:0000035	Abnormal testis morphology
3614	IMPDH1	HP:0000006	Autosomal dominant inheritance
3614	IMPDH1	HP:0000135	Hypogonadism
3614	IMPDH1	HP:0007688	Undetectable light- and dark-adapted electroretinogram
3614	IMPDH1	HP:0007675	Progressive night blindness
3614	IMPDH1	HP:0007663	Reduced visual acuity
3614	IMPDH1	HP:0005978	Type II diabetes mellitus
3614	IMPDH1	HP:0002084	Encephalocele
3614	IMPDH1	HP:0003593	Infantile onset
3614	IMPDH1	HP:0002269	Abnormality of neuronal migration
3614	IMPDH1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
3614	IMPDH1	HP:0000639	Nystagmus
3614	IMPDH1	HP:0000648	Optic atrophy
3614	IMPDH1	HP:0000618	Blindness
3614	IMPDH1	HP:0000613	Photophobia
3614	IMPDH1	HP:0000602	Ophthalmoplegia
3614	IMPDH1	HP:0000662	Nyctalopia
3614	IMPDH1	HP:0004374	Hemiplegia/hemiparesis
3614	IMPDH1	HP:0012795	Abnormal optic disc morphology
3614	IMPDH1	HP:0011463	Childhood onset
3614	IMPDH1	HP:0011504	Bull's eye maculopathy
3614	IMPDH1	HP:0000842	Hyperinsulinemia
3614	IMPDH1	HP:0000987	Atypical scarring of skin
3614	IMPDH1	HP:0008046	Abnormal retinal vascular morphology
3614	IMPDH1	HP:0007703	Abnormality of retinal pigmentation
3614	IMPDH1	HP:0007787	Posterior subcapsular cataract
3614	IMPDH1	HP:0007737	Bone spicule pigmentation of the retina
3614	IMPDH1	HP:0001513	Obesity
3614	IMPDH1	HP:0007843	Attenuation of retinal blood vessels
3614	IMPDH1	HP:0000365	Hearing impairment
3614	IMPDH1	HP:0031609	Geographic atrophy
3614	IMPDH1	HP:0000407	Sensorineural hearing impairment
3614	IMPDH1	HP:0000405	Conductive hearing impairment
3614	IMPDH1	HP:0000463	Anteverted nares
3614	IMPDH1	HP:0000431	Wide nasal bridge
3614	IMPDH1	HP:0000518	Cataract
3614	IMPDH1	HP:0000510	Rod-cone dystrophy
3614	IMPDH1	HP:0000512	Abnormal electroretinogram
3614	IMPDH1	HP:0000505	Visual impairment
3614	IMPDH1	HP:0000501	Glaucoma
3614	IMPDH1	HP:0000563	Keratoconus
3614	IMPDH1	HP:0000543	Optic disc pallor
3615	IMPDH2	HP:0003785	Decreased CSF homovanillic acid concentration
3615	IMPDH2	HP:0002451	Limb dystonia
3615	IMPDH2	HP:0007325	Generalized dystonia
3615	IMPDH2	HP:0001251	Ataxia
3615	IMPDH2	HP:0001249	Intellectual disability
3615	IMPDH2	HP:0001370	Rheumatoid arthritis
3615	IMPDH2	HP:0001348	Brisk reflexes
3615	IMPDH2	HP:0002650	Scoliosis
3615	IMPDH2	HP:0001300	Parkinsonism
3615	IMPDH2	HP:0002601	Paresis of extensor muscles of the big toe
3615	IMPDH2	HP:0002067	Bradykinesia
3615	IMPDH2	HP:0002066	Gait ataxia
3615	IMPDH2	HP:0002063	Rigidity
3615	IMPDH2	HP:0002071	Abnormality of extrapyramidal motor function
3615	IMPDH2	HP:0003487	Babinski sign
3615	IMPDH2	HP:0002166	Impaired vibration sensation in the lower limbs
3615	IMPDH2	HP:0002174	Postural tremor
3615	IMPDH2	HP:0008297	Transient hyperphenylalaninemia
3615	IMPDH2	HP:0002395	Lower limb hyperreflexia
3615	IMPDH2	HP:0002360	Sleep disturbance
3615	IMPDH2	HP:0000666	Horizontal nystagmus
3615	IMPDH2	HP:0004373	Focal dystonia
3615	IMPDH2	HP:0000739	Anxiety
3615	IMPDH2	HP:0000716	Depression
3615	IMPDH2	HP:0000722	Compulsive behaviors
3615	IMPDH2	HP:0000822	Hypertension
3615	IMPDH2	HP:0000821	Hypothyroidism
3615	IMPDH2	HP:0005876	Progressive flexion contractures
3615	IMPDH2	HP:0045007	Abnormal substantia nigra morphology
3615	IMPDH2	HP:0012378	Fatigue
3615	IMPDH2	HP:0000365	Hearing impairment
3615	IMPDH2	HP:0000473	Torticollis
3615	IMPDH2	HP:0001762	Talipes equinovarus
3615	IMPDH2	HP:0001761	Pes cavus
3617	IMPG1	HP:0001139	Choroideremia
3617	IMPG1	HP:0001123	Visual field defect
3617	IMPG1	HP:0001249	Intellectual disability
3617	IMPG1	HP:0008736	Hypoplasia of penis
3617	IMPG1	HP:0001347	Hyperreflexia
3617	IMPG1	HP:0000035	Abnormal testis morphology
3617	IMPG1	HP:0000006	Autosomal dominant inheritance
3617	IMPG1	HP:0000135	Hypogonadism
3617	IMPG1	HP:0007675	Progressive night blindness
3617	IMPG1	HP:0007677	Vitelliform-like macular lesions
3617	IMPG1	HP:0007641	Dyschromatopsia
3617	IMPG1	HP:0005978	Type II diabetes mellitus
3617	IMPG1	HP:0008179	Decreased Arden ratio of electrooculogram
3617	IMPG1	HP:0003581	Adult onset
3617	IMPG1	HP:0030515	Moderately reduced visual acuity
3617	IMPG1	HP:0000639	Nystagmus
3617	IMPG1	HP:0000648	Optic atrophy
3617	IMPG1	HP:0000618	Blindness
3617	IMPG1	HP:0000613	Photophobia
3617	IMPG1	HP:0000602	Ophthalmoplegia
3617	IMPG1	HP:0011510	Drusen
3617	IMPG1	HP:0000842	Hyperinsulinemia
3617	IMPG1	HP:0008001	Foveal hyperpigmentation
3617	IMPG1	HP:0000987	Atypical scarring of skin
3617	IMPG1	HP:0008046	Abnormal retinal vascular morphology
3617	IMPG1	HP:0007703	Abnormality of retinal pigmentation
3617	IMPG1	HP:0007754	Macular dystrophy
3617	IMPG1	HP:0007730	Iris hypopigmentation
3617	IMPG1	HP:0001513	Obesity
3617	IMPG1	HP:0007899	Retinal nonattachment
3617	IMPG1	HP:0000407	Sensorineural hearing impairment
3617	IMPG1	HP:0000405	Conductive hearing impairment
3617	IMPG1	HP:0000478	Abnormality of the eye
3617	IMPG1	HP:0000463	Anteverted nares
3617	IMPG1	HP:0000431	Wide nasal bridge
3617	IMPG1	HP:0000518	Cataract
3617	IMPG1	HP:0000512	Abnormal electroretinogram
3617	IMPG1	HP:0000505	Visual impairment
3617	IMPG1	HP:0000504	Abnormality of vision
3617	IMPG1	HP:0000501	Glaucoma
3617	IMPG1	HP:0000563	Keratoconus
3617	IMPG1	HP:0000551	Color vision defect
3621	ING1	HP:0000007	Autosomal recessive inheritance
3621	ING1	HP:0002860	Squamous cell carcinoma
3630	INS	HP:0010935	Abnormality of the upper urinary tract
3630	INS	HP:0010864	Intellectual disability, severe
3630	INS	HP:0001270	Motor delay
3630	INS	HP:0001252	Hypotonia
3630	INS	HP:0001251	Ataxia
3630	INS	HP:0001249	Intellectual disability
3630	INS	HP:0002594	Pancreatic hypoplasia
3630	INS	HP:0001263	Global developmental delay
3630	INS	HP:0001259	Coma
3630	INS	HP:0000077	Abnormality of the kidney
3630	INS	HP:0012028	Hepatocellular adenoma
3630	INS	HP:0000007	Autosomal recessive inheritance
3630	INS	HP:0000006	Autosomal dominant inheritance
3630	INS	HP:0001488	Bilateral ptosis
3630	INS	HP:0006274	Reduced pancreatic beta cells
3630	INS	HP:0000119	Abnormality of the genitourinary system
3630	INS	HP:0000124	Renal tubular dysfunction
3630	INS	HP:0000112	Nephropathy
3630	INS	HP:0000107	Renal cyst
3630	INS	HP:0002714	Downturned corners of mouth
3630	INS	HP:0002069	Bilateral tonic-clonic seizure
3630	INS	HP:0003477	Peripheral axonal neuropathy
3630	INS	HP:0002123	Generalized myoclonic seizure
3630	INS	HP:0002186	Apraxia
3630	INS	HP:0008255	Transient neonatal diabetes mellitus
3630	INS	HP:0100651	Type I diabetes mellitus
3630	INS	HP:0004924	Abnormal oral glucose tolerance
3630	INS	HP:0004904	Maturity-onset diabetes of the young
3630	INS	HP:0001944	Dehydration
3630	INS	HP:0001953	Diabetic ketoacidosis
3630	INS	HP:0001952	Glucose intolerance
3630	INS	HP:0001998	Neonatal hypoglycemia
3630	INS	HP:0003076	Glycosuria
3630	INS	HP:0003074	Hyperglycemia
3630	INS	HP:0012758	Neurodevelopmental delay
3630	INS	HP:0005750	Lower-limb joint contracture
3630	INS	HP:0030795	Reduced C-peptide level
3630	INS	HP:0030794	Abnormal circulating C-peptide concentration
3630	INS	HP:0000857	Neonatal insulin-dependent diabetes mellitus
3630	INS	HP:0000831	Insulin-resistant diabetes mellitus
3630	INS	HP:0000842	Hyperinsulinemia
3630	INS	HP:0000819	Diabetes mellitus
3630	INS	HP:0000825	Hyperinsulinemic hypoglycemia
3630	INS	HP:0040214	Abnormal circulating insulin concentration
3630	INS	HP:0040217	Elevated hemoglobin A1c
3630	INS	HP:0040216	Hypoinsulinemia
3630	INS	HP:0000956	Acanthosis nigricans
3630	INS	HP:0030057	Autoimmune antibody positivity
3630	INS	HP:0002804	Arthrogryposis multiplex congenita
3630	INS	HP:0025502	Overweight
3630	INS	HP:0001508	Failure to thrive
3630	INS	HP:0001520	Large for gestational age
3630	INS	HP:0001518	Small for gestational age
3630	INS	HP:0001511	Intrauterine growth retardation
3630	INS	HP:0001513	Obesity
3630	INS	HP:0002919	Ketonuria
3630	INS	HP:0000365	Hearing impairment
3630	INS	HP:0001627	Abnormal heart morphology
3630	INS	HP:0001738	Exocrine pancreatic insufficiency
3630	INS	HP:0000488	Retinopathy
3630	INS	HP:0011106	Hypovolemia
3630	INS	HP:0025708	Early young adult onset
3630	INS	HP:0005487	Prominent metopic ridge
3630	INS	HP:0001824	Weight loss
3630	INS	HP:0012594	Moderate albuminuria
3636	INPPL1	HP:0001182	Tapered finger
3636	INPPL1	HP:0001156	Brachydactyly
3636	INPPL1	HP:0001290	Generalized hypotonia
3636	INPPL1	HP:0001270	Motor delay
3636	INPPL1	HP:0001252	Hypotonia
3636	INPPL1	HP:0001231	Abnormal fingernail morphology
3636	INPPL1	HP:0001387	Joint stiffness
3636	INPPL1	HP:0002677	Small foramen magnum
3636	INPPL1	HP:0000028	Cryptorchidism
3636	INPPL1	HP:0008873	Disproportionate short-limb short stature
3636	INPPL1	HP:0000007	Autosomal recessive inheritance
3636	INPPL1	HP:0002650	Scoliosis
3636	INPPL1	HP:0008905	Rhizomelia
3636	INPPL1	HP:0000175	Cleft palate
3636	INPPL1	HP:0005019	Diaphyseal thickening
3636	INPPL1	HP:0012107	Increased fibular diameter
3636	INPPL1	HP:0000117	Renal phosphate wasting
3636	INPPL1	HP:0002750	Delayed skeletal maturation
3636	INPPL1	HP:0002007	Frontal bossing
3636	INPPL1	HP:0003312	Abnormal form of the vertebral bodies
3636	INPPL1	HP:0003311	Hypoplasia of the odontoid process
3636	INPPL1	HP:0002093	Respiratory insufficiency
3636	INPPL1	HP:0008108	Advanced tarsal ossification
3636	INPPL1	HP:0100569	Abnormally ossified vertebrae
3636	INPPL1	HP:0005930	Abnormal epiphysis morphology
3636	INPPL1	HP:0002148	Hypophosphatemia
3636	INPPL1	HP:0003577	Congenital onset
3636	INPPL1	HP:0002240	Hepatomegaly
3636	INPPL1	HP:0002205	Recurrent respiratory infections
3636	INPPL1	HP:0003510	Severe short stature
3636	INPPL1	HP:0001027	Soft, doughy skin
3636	INPPL1	HP:0001004	Lymphedema
3636	INPPL1	HP:0009803	Short phalanx of finger
3636	INPPL1	HP:0008479	Hypoplastic vertebral bodies
3636	INPPL1	HP:0004279	Short palm
3636	INPPL1	HP:0000637	Long palpebral fissure
3636	INPPL1	HP:0010049	Short metacarpal
3636	INPPL1	HP:0011304	Broad thumb
3636	INPPL1	HP:0005616	Accelerated skeletal maturation
3636	INPPL1	HP:0003038	Fibular hypoplasia
3636	INPPL1	HP:0003026	Short long bone
3636	INPPL1	HP:0003021	Metaphyseal cupping
3636	INPPL1	HP:0000767	Pectus excavatum
3636	INPPL1	HP:0000774	Narrow chest
3636	INPPL1	HP:0000773	Short ribs
3636	INPPL1	HP:0003196	Short nose
3636	INPPL1	HP:0000922	Posterior rib cupping
3636	INPPL1	HP:0003177	Squared iliac bones
3636	INPPL1	HP:0003175	Hypoplastic ischia
3636	INPPL1	HP:0003173	Hypoplastic pubic bone
3636	INPPL1	HP:0003180	Flat acetabular roof
3636	INPPL1	HP:0000907	Anterior rib cupping
3636	INPPL1	HP:0000882	Hypoplastic scapulae
3636	INPPL1	HP:0000895	Lateral clavicle hook
3636	INPPL1	HP:0004565	Severe platyspondyly
3636	INPPL1	HP:0000969	Edema
3636	INPPL1	HP:0000947	Dumbbell-shaped long bone
3636	INPPL1	HP:0000946	Hypoplastic ilia
3636	INPPL1	HP:0000944	Abnormal metaphysis morphology
3636	INPPL1	HP:0001591	Bell-shaped thorax
3636	INPPL1	HP:0000256	Macrocephaly
3636	INPPL1	HP:0000272	Malar flattening
3636	INPPL1	HP:0000268	Dolichocephaly
3636	INPPL1	HP:0000239	Large fontanelles
3636	INPPL1	HP:0001562	Oligohydramnios
3636	INPPL1	HP:0001561	Polyhydramnios
3636	INPPL1	HP:0001538	Protuberant abdomen
3636	INPPL1	HP:0000358	Posteriorly rotated ears
3636	INPPL1	HP:0000369	Low-set ears
3636	INPPL1	HP:0000343	Long philtrum
3636	INPPL1	HP:0000348	High forehead
3636	INPPL1	HP:0002983	Micromelia
3636	INPPL1	HP:0000316	Hypertelorism
3636	INPPL1	HP:0005280	Depressed nasal bridge
3636	INPPL1	HP:0000463	Anteverted nares
3636	INPPL1	HP:0000470	Short neck
3636	INPPL1	HP:0001773	Short foot
3636	INPPL1	HP:0001744	Splenomegaly
3636	INPPL1	HP:0005469	Flat occiput
3636	INPPL1	HP:0001800	Hypoplastic toenails
3636	INPPL1	HP:0000592	Blue sclerae
3636	INPPL1	HP:0000586	Shallow orbits
3636	INPPL1	HP:0011220	Prominent forehead
3640	INSL3	HP:0000028	Cryptorchidism
3640	INSL3	HP:0000006	Autosomal dominant inheritance
3640	INSL3	HP:0000104	Renal agenesis
3640	INSL3	HP:0012741	Unilateral cryptorchidism
3643	INSR	HP:0001176	Large hands
3643	INSR	HP:0007305	CNS demyelination
3643	INSR	HP:0003758	Reduced subcutaneous adipose tissue
3643	INSR	HP:0001250	Seizure
3643	INSR	HP:0001249	Intellectual disability
3643	INSR	HP:0001263	Global developmental delay
3643	INSR	HP:0001259	Coma
3643	INSR	HP:0007440	Generalized hyperpigmentation
3643	INSR	HP:0100874	Thick hair
3643	INSR	HP:0100879	Enlarged ovaries
3643	INSR	HP:0008665	Clitoral hypertrophy
3643	INSR	HP:0000065	Labial hypertrophy
3643	INSR	HP:0001396	Cholestasis
3643	INSR	HP:0001395	Hepatic fibrosis
3643	INSR	HP:0000040	Long penis
3643	INSR	HP:0008897	Postnatal growth retardation
3643	INSR	HP:0008887	Adipose tissue loss
3643	INSR	HP:0008850	Severe postnatal growth retardation
3643	INSR	HP:0008846	Severe intrauterine growth retardation
3643	INSR	HP:0001325	Hypoglycemic coma
3643	INSR	HP:0000007	Autosomal recessive inheritance
3643	INSR	HP:0000006	Autosomal dominant inheritance
3643	INSR	HP:0000179	Thick lower lip vermilion
3643	INSR	HP:0000164	Abnormality of the dentition
3643	INSR	HP:0000158	Macroglossia
3643	INSR	HP:0000138	Ovarian cyst
3643	INSR	HP:0000154	Wide mouth
3643	INSR	HP:0001482	Subcutaneous nodule
3643	INSR	HP:0008936	Axial hypotonia
3643	INSR	HP:0006288	Advanced eruption of teeth
3643	INSR	HP:0000121	Nephrocalcinosis
3643	INSR	HP:0000105	Enlarged kidney
3643	INSR	HP:0002750	Delayed skeletal maturation
3643	INSR	HP:0002719	Recurrent infections
3643	INSR	HP:0002035	Rectal prolapse
3643	INSR	HP:0005978	Type II diabetes mellitus
3643	INSR	HP:0010442	Polydactyly
3643	INSR	HP:0040270	Impaired glucose tolerance
3643	INSR	HP:0011787	Central hypothyroidism
3643	INSR	HP:0002150	Hypercalciuria
3643	INSR	HP:0002164	Nail dysplasia
3643	INSR	HP:0002173	Hypoglycemic seizures
3643	INSR	HP:0008283	Fasting hyperinsulinemia
3643	INSR	HP:0002240	Hepatomegaly
3643	INSR	HP:0002219	Facial hypertrichosis
3643	INSR	HP:0002216	Premature graying of hair
3643	INSR	HP:0002230	Generalized hirsutism
3643	INSR	HP:0011998	Postprandial hyperglycemia
3643	INSR	HP:0025024	Megarectum
3643	INSR	HP:0001034	Hypermelanotic macule
3643	INSR	HP:0001007	Hirsutism
3643	INSR	HP:0009830	Peripheral neuropathy
3643	INSR	HP:0001072	Thickened skin
3643	INSR	HP:0003621	Juvenile onset
3643	INSR	HP:0004914	Recurrent infantile hypoglycemia
3643	INSR	HP:0004298	Abnormality of the abdominal wall
3643	INSR	HP:0001943	Hypoglycemia
3643	INSR	HP:0001959	Polydipsia
3643	INSR	HP:0001953	Diabetic ketoacidosis
3643	INSR	HP:0012686	Increased pineal volume
3643	INSR	HP:0011344	Severe global developmental delay
3643	INSR	HP:0000678	Dental crowding
3643	INSR	HP:0001988	Recurrent hypoglycemia
3643	INSR	HP:0004325	Decreased body weight
3643	INSR	HP:0004322	Short stature
3643	INSR	HP:0005616	Accelerated skeletal maturation
3643	INSR	HP:0003074	Hyperglycemia
3643	INSR	HP:0011463	Childhood onset
3643	INSR	HP:0011462	Young adult onset
3643	INSR	HP:0004428	Elfin facies
3643	INSR	HP:0004405	Prominent nipples
3643	INSR	HP:0030796	Increased C-peptide level
3643	INSR	HP:0030794	Abnormal circulating C-peptide concentration
3643	INSR	HP:0003162	Fasting hypoglycemia
3643	INSR	HP:0000859	Hyperaldosteronism
3643	INSR	HP:0000855	Insulin resistance
3643	INSR	HP:0000831	Insulin-resistant diabetes mellitus
3643	INSR	HP:0000848	Increased circulating renin level
3643	INSR	HP:0000842	Hyperinsulinemia
3643	INSR	HP:0000826	Precocious puberty
3643	INSR	HP:0000825	Hyperinsulinemic hypoglycemia
3643	INSR	HP:0000821	Hypothyroidism
3643	INSR	HP:0000823	Delayed puberty
3643	INSR	HP:0003247	Overgrowth of external genitalia
3643	INSR	HP:0003202	Skeletal muscle atrophy
3643	INSR	HP:0004510	Pancreatic islet-cell hyperplasia
3643	INSR	HP:0034384	Elevated circulating insulin:C-peptide ratio
3643	INSR	HP:0003270	Abdominal distention
3643	INSR	HP:0000998	Hypertrichosis
3643	INSR	HP:0000974	Hyperextensible skin
3643	INSR	HP:0000958	Dry skin
3643	INSR	HP:0000956	Acanthosis nigricans
3643	INSR	HP:0000962	Hyperkeratosis
3643	INSR	HP:0000280	Coarse facial features
3643	INSR	HP:0000294	Low anterior hairline
3643	INSR	HP:0000274	Small face
3643	INSR	HP:0030088	Increased serum testosterone level
3643	INSR	HP:0000252	Microcephaly
3643	INSR	HP:0000221	Furrowed tongue
3643	INSR	HP:0000218	High palate
3643	INSR	HP:0000212	Gingival overgrowth
3643	INSR	HP:0001525	Severe failure to thrive
3643	INSR	HP:0001508	Failure to thrive
3643	INSR	HP:0001518	Small for gestational age
3643	INSR	HP:0001511	Intrauterine growth retardation
3643	INSR	HP:0012378	Fatigue
3643	INSR	HP:0002900	Hypokalemia
3643	INSR	HP:0000369	Low-set ears
3643	INSR	HP:0031452	Lichenoid skin lesion
3643	INSR	HP:0000316	Hypertelorism
3643	INSR	HP:0001629	Ventricular septal defect
3643	INSR	HP:0001639	Hypertrophic cardiomyopathy
3643	INSR	HP:0001638	Cardiomyopathy
3643	INSR	HP:0000307	Pointed chin
3643	INSR	HP:0001631	Atrial septal defect
3643	INSR	HP:0000303	Mandibular prognathia
3643	INSR	HP:0000400	Macrotia
3643	INSR	HP:0012471	Thick vermilion border
3643	INSR	HP:0000488	Retinopathy
3643	INSR	HP:0000463	Anteverted nares
3643	INSR	HP:0000445	Wide nose
3643	INSR	HP:0000411	Protruding ear
3643	INSR	HP:0000426	Prominent nasal bridge
3643	INSR	HP:0000520	Proptosis
3643	INSR	HP:0001833	Long foot
3643	INSR	HP:0030348	Increased circulating androgen concentration
3643	INSR	HP:0012542	Onychauxis
3651	PDX1	HP:0010935	Abnormality of the upper urinary tract
3651	PDX1	HP:0010864	Intellectual disability, severe
3651	PDX1	HP:0100801	Pancreatic aplasia
3651	PDX1	HP:0001270	Motor delay
3651	PDX1	HP:0001252	Hypotonia
3651	PDX1	HP:0001251	Ataxia
3651	PDX1	HP:0001249	Intellectual disability
3651	PDX1	HP:0002594	Pancreatic hypoplasia
3651	PDX1	HP:0001263	Global developmental delay
3651	PDX1	HP:0001259	Coma
3651	PDX1	HP:0000077	Abnormality of the kidney
3651	PDX1	HP:0012028	Hepatocellular adenoma
3651	PDX1	HP:0000007	Autosomal recessive inheritance
3651	PDX1	HP:0000006	Autosomal dominant inheritance
3651	PDX1	HP:0001488	Bilateral ptosis
3651	PDX1	HP:0006274	Reduced pancreatic beta cells
3651	PDX1	HP:0000119	Abnormality of the genitourinary system
3651	PDX1	HP:0000124	Renal tubular dysfunction
3651	PDX1	HP:0000112	Nephropathy
3651	PDX1	HP:0000107	Renal cyst
3651	PDX1	HP:0002714	Downturned corners of mouth
3651	PDX1	HP:0005978	Type II diabetes mellitus
3651	PDX1	HP:0002069	Bilateral tonic-clonic seizure
3651	PDX1	HP:0003477	Peripheral axonal neuropathy
3651	PDX1	HP:0002123	Generalized myoclonic seizure
3651	PDX1	HP:0002186	Apraxia
3651	PDX1	HP:0008255	Transient neonatal diabetes mellitus
3651	PDX1	HP:0003577	Congenital onset
3651	PDX1	HP:0003584	Late onset
3651	PDX1	HP:0004924	Abnormal oral glucose tolerance
3651	PDX1	HP:0004904	Maturity-onset diabetes of the young
3651	PDX1	HP:0031819	Increased waist to hip ratio
3651	PDX1	HP:0001944	Dehydration
3651	PDX1	HP:0001953	Diabetic ketoacidosis
3651	PDX1	HP:0001952	Glucose intolerance
3651	PDX1	HP:0001998	Neonatal hypoglycemia
3651	PDX1	HP:0003076	Glycosuria
3651	PDX1	HP:0003074	Hyperglycemia
3651	PDX1	HP:0011461	Fetal onset
3651	PDX1	HP:0012758	Neurodevelopmental delay
3651	PDX1	HP:0005750	Lower-limb joint contracture
3651	PDX1	HP:0030795	Reduced C-peptide level
3651	PDX1	HP:0030794	Abnormal circulating C-peptide concentration
3651	PDX1	HP:0000855	Insulin resistance
3651	PDX1	HP:0000857	Neonatal insulin-dependent diabetes mellitus
3651	PDX1	HP:0000831	Insulin-resistant diabetes mellitus
3651	PDX1	HP:0000825	Hyperinsulinemic hypoglycemia
3651	PDX1	HP:0040214	Abnormal circulating insulin concentration
3651	PDX1	HP:0040217	Elevated hemoglobin A1c
3651	PDX1	HP:0040216	Hypoinsulinemia
3651	PDX1	HP:0000956	Acanthosis nigricans
3651	PDX1	HP:0030057	Autoimmune antibody positivity
3651	PDX1	HP:0002804	Arthrogryposis multiplex congenita
3651	PDX1	HP:0001562	Oligohydramnios
3651	PDX1	HP:0025502	Overweight
3651	PDX1	HP:0001508	Failure to thrive
3651	PDX1	HP:0001520	Large for gestational age
3651	PDX1	HP:0001511	Intrauterine growth retardation
3651	PDX1	HP:0001513	Obesity
3651	PDX1	HP:0002919	Ketonuria
3651	PDX1	HP:0000365	Hearing impairment
3651	PDX1	HP:0001627	Abnormal heart morphology
3651	PDX1	HP:0001738	Exocrine pancreatic insufficiency
3651	PDX1	HP:0000488	Retinopathy
3651	PDX1	HP:0011106	Hypovolemia
3651	PDX1	HP:0005487	Prominent metopic ridge
3651	PDX1	HP:0001824	Weight loss
3651	PDX1	HP:0012594	Moderate albuminuria
3653	IPW	HP:0001159	Syndactyly
3653	IPW	HP:0007328	Impaired pain sensation
3653	IPW	HP:0003745	Sporadic
3653	IPW	HP:0001290	Generalized hypotonia
3653	IPW	HP:0001270	Motor delay
3653	IPW	HP:0001250	Seizure
3653	IPW	HP:0001249	Intellectual disability
3653	IPW	HP:0002591	Polyphagia
3653	IPW	HP:0001263	Global developmental delay
3653	IPW	HP:0000064	Hypoplastic labia minora
3653	IPW	HP:0000060	Clitoral hypoplasia
3653	IPW	HP:0000044	Hypogonadotropic hypogonadism
3653	IPW	HP:0000046	Small scrotum
3653	IPW	HP:0000054	Micropenis
3653	IPW	HP:0001385	Hip dysplasia
3653	IPW	HP:0000028	Cryptorchidism
3653	IPW	HP:0008872	Feeding difficulties in infancy
3653	IPW	HP:0007513	Generalized hypopigmentation
3653	IPW	HP:0001328	Specific learning disability
3653	IPW	HP:0000006	Autosomal dominant inheritance
3653	IPW	HP:0002650	Scoliosis
3653	IPW	HP:0001319	Neonatal hypotonia
3653	IPW	HP:0002791	Hypoventilation
3653	IPW	HP:0002714	Downturned corners of mouth
3653	IPW	HP:0002033	Poor suck
3653	IPW	HP:0005968	Temperature instability
3653	IPW	HP:0005978	Type II diabetes mellitus
3653	IPW	HP:0030919	Low 5-minute APGAR score
3653	IPW	HP:0030918	Low 1-minute APGAR score
3653	IPW	HP:0009466	Radial deviation of finger
3653	IPW	HP:0002119	Ventriculomegaly
3653	IPW	HP:0010535	Sleep apnea
3653	IPW	HP:0003577	Congenital onset
3653	IPW	HP:0002236	Frontal upsweep of hair
3653	IPW	HP:0100716	Self-injurious behavior
3653	IPW	HP:0002205	Recurrent respiratory infections
3653	IPW	HP:0007010	Poor fine motor coordination
3653	IPW	HP:0007015	Poor gross motor coordination
3653	IPW	HP:0007018	Attention deficit hyperactivity disorder
3653	IPW	HP:0002360	Sleep disturbance
3653	IPW	HP:0001010	Hypopigmentation of the skin
3653	IPW	HP:0200055	Small hand
3653	IPW	HP:0033454	Tube feeding
3653	IPW	HP:0031878	Acromicria
3653	IPW	HP:0004283	Narrow palm
3653	IPW	HP:0005599	Hypopigmentation of hair
3653	IPW	HP:0004279	Short palm
3653	IPW	HP:0000670	Carious teeth
3653	IPW	HP:0004322	Short stature
3653	IPW	HP:0012743	Abdominal obesity
3653	IPW	HP:0000750	Delayed speech and language development
3653	IPW	HP:0000717	Autism
3653	IPW	HP:0000709	Psychosis
3653	IPW	HP:0011461	Fetal onset
3653	IPW	HP:0000789	Infertility
3653	IPW	HP:0000786	Primary amenorrhea
3653	IPW	HP:0003199	Decreased muscle mass
3653	IPW	HP:0000876	Oligomenorrhea
3653	IPW	HP:0000846	Adrenal insufficiency
3653	IPW	HP:0000842	Hyperinsulinemia
3653	IPW	HP:0000826	Precocious puberty
3653	IPW	HP:0000824	Decreased response to growth hormone stimulation test
3653	IPW	HP:0000823	Delayed puberty
3653	IPW	HP:0003241	External genital hypoplasia
3653	IPW	HP:0000992	Cutaneous photosensitivity
3653	IPW	HP:0000939	Osteoporosis
3653	IPW	HP:0000938	Osteopenia
3653	IPW	HP:0000268	Dolichocephaly
3653	IPW	HP:0007730	Iris hypopigmentation
3653	IPW	HP:0030084	Clinodactyly
3653	IPW	HP:0002808	Kyphosis
3653	IPW	HP:0000219	Thin upper lip vermilion
3653	IPW	HP:0001562	Oligohydramnios
3653	IPW	HP:0001561	Polyhydramnios
3653	IPW	HP:0001558	Decreased fetal movement
3653	IPW	HP:0001531	Failure to thrive in infancy
3653	IPW	HP:0002857	Genu valgum
3653	IPW	HP:0001511	Intrauterine growth retardation
3653	IPW	HP:0001513	Obesity
3653	IPW	HP:0007874	Almond-shaped palpebral fissure
3653	IPW	HP:0000341	Narrow forehead
3653	IPW	HP:0001623	Breech presentation
3653	IPW	HP:0000486	Strabismus
3653	IPW	HP:0001773	Short foot
3653	IPW	HP:0000446	Narrow nasal bridge
3653	IPW	HP:0000582	Upslanted palpebral fissure
3653	IPW	HP:0000565	Esotropia
3653	IPW	HP:0000540	Hypermetropia
3653	IPW	HP:0000545	Myopia
3654	IRAK1	HP:0002463	Language impairment
3654	IRAK1	HP:0001250	Seizure
3654	IRAK1	HP:0007417	Discoid lupus rash
3654	IRAK1	HP:0000083	Renal insufficiency
3654	IRAK1	HP:0000093	Proteinuria
3654	IRAK1	HP:0000079	Abnormality of the urinary system
3654	IRAK1	HP:0025343	Lupus anticoagulant
3654	IRAK1	HP:0001369	Arthritis
3654	IRAK1	HP:0025300	Malar rash
3654	IRAK1	HP:0001324	Muscle weakness
3654	IRAK1	HP:0025435	Increased circulating lactate dehydrogenase concentration
3654	IRAK1	HP:0000155	Oral ulcer
3654	IRAK1	HP:0000123	Nephritis
3654	IRAK1	HP:0000100	Nephrotic syndrome
3654	IRAK1	HP:0002716	Lymphadenopathy
3654	IRAK1	HP:0002725	Systemic lupus erythematosus
3654	IRAK1	HP:0002027	Abdominal pain
3654	IRAK1	HP:0040319	Dark urine
3654	IRAK1	HP:0002014	Diarrhea
3654	IRAK1	HP:0002013	Vomiting
3654	IRAK1	HP:0002086	Abnormality of the respiratory system
3654	IRAK1	HP:0100543	Cognitive impairment
3654	IRAK1	HP:0002094	Dyspnea
3654	IRAK1	HP:0003453	Antineutrophil antibody positivity
3654	IRAK1	HP:0003493	Antinuclear antibody positivity
3654	IRAK1	HP:0003565	Elevated erythrocyte sedimentation rate
3654	IRAK1	HP:0002202	Pleural effusion
3654	IRAK1	HP:0100749	Chest pain
3654	IRAK1	HP:0002315	Headache
3654	IRAK1	HP:0100614	Myositis
3654	IRAK1	HP:0002301	Hemiplegia
3654	IRAK1	HP:0003613	Antiphospholipid antibody positivity
3654	IRAK1	HP:0001945	Fever
3654	IRAK1	HP:0001937	Microangiopathic hemolytic anemia
3654	IRAK1	HP:0004372	Reduced consciousness/confusion
3654	IRAK1	HP:0000709	Psychosis
3654	IRAK1	HP:0000707	Abnormality of the nervous system
3654	IRAK1	HP:0000790	Hematuria
3654	IRAK1	HP:0030880	Raynaud phenomenon
3654	IRAK1	HP:0045042	Decreased circulating complement C4 concentration
3654	IRAK1	HP:0003270	Abdominal distention
3654	IRAK1	HP:0000988	Skin rash
3654	IRAK1	HP:0000951	Abnormality of the skin
3654	IRAK1	HP:0000969	Edema
3654	IRAK1	HP:0001596	Alopecia
3654	IRAK1	HP:0002829	Arthralgia
3654	IRAK1	HP:0001541	Ascites
3654	IRAK1	HP:0011024	Abnormality of the gastrointestinal tract
3654	IRAK1	HP:0001698	Pericardial effusion
3654	IRAK1	HP:0005421	Decreased circulating complement C3 concentration
3654	IRAK1	HP:0001888	Lymphopenia
3654	IRAK1	HP:0001882	Leukopenia
3654	IRAK1	HP:0001873	Thrombocytopenia
3655	ITGA6	HP:0008551	Microtia
3655	ITGA6	HP:0007385	Aplasia cutis congenita of scalp
3655	ITGA6	HP:0003811	Neonatal death
3655	ITGA6	HP:0000075	Renal duplication
3655	ITGA6	HP:0000070	Ureterocele
3655	ITGA6	HP:0000007	Autosomal recessive inheritance
3655	ITGA6	HP:0006297	Enamel hypoplasia
3655	ITGA6	HP:0007589	Aplasia cutis congenita on trunk or limbs
3655	ITGA6	HP:0000126	Hydronephrosis
3655	ITGA6	HP:0000110	Renal dysplasia
3655	ITGA6	HP:0002017	Nausea and vomiting
3655	ITGA6	HP:0003341	Lamina lucida cleavage
3655	ITGA6	HP:0010450	Esophageal stenosis
3655	ITGA6	HP:0100577	Urinary bladder inflammation
3655	ITGA6	HP:0010477	Aplasia of the bladder
3655	ITGA6	HP:0003577	Congenital onset
3655	ITGA6	HP:0008404	Nail dystrophy
3655	ITGA6	HP:0200097	Oral mucosal blisters
3655	ITGA6	HP:0001057	Aplasia cutis congenita
3655	ITGA6	HP:0001059	Pterygium
3655	ITGA6	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes
3655	ITGA6	HP:0000656	Ectropion
3655	ITGA6	HP:0004399	Congenital pyloric atresia
3655	ITGA6	HP:0000790	Hematuria
3655	ITGA6	HP:0003270	Abdominal distention
3655	ITGA6	HP:0008066	Abnormal blistering of the skin
3655	ITGA6	HP:0012227	Urethral stricture
3655	ITGA6	HP:0001581	Recurrent skin infections
3655	ITGA6	HP:0001561	Polyhydramnios
3655	ITGA6	HP:0011100	Intestinal atresia
3658	IREB2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
3658	IREB2	HP:0002421	Poor head control
3658	IREB2	HP:0001276	Hypertonia
3658	IREB2	HP:0001250	Seizure
3658	IREB2	HP:0001266	Choreoathetosis
3658	IREB2	HP:0001263	Global developmental delay
3658	IREB2	HP:0001257	Spasticity
3658	IREB2	HP:0001347	Hyperreflexia
3658	IREB2	HP:0001332	Dystonia
3658	IREB2	HP:0001344	Absent speech
3658	IREB2	HP:0000007	Autosomal recessive inheritance
3658	IREB2	HP:0008936	Axial hypotonia
3658	IREB2	HP:0011800	Midface retrusion
3658	IREB2	HP:0002072	Chorea
3658	IREB2	HP:0003487	Babinski sign
3658	IREB2	HP:0003593	Infantile onset
3658	IREB2	HP:0011968	Feeding difficulties
3658	IREB2	HP:0003676	Progressive
3658	IREB2	HP:0002353	EEG abnormality
3658	IREB2	HP:0100660	Dyskinesia
3658	IREB2	HP:0002310	Orofacial dyskinesia
3658	IREB2	HP:0001935	Microcytic anemia
3658	IREB2	HP:0001931	Hypochromic anemia
3658	IREB2	HP:0100021	Cerebral palsy
3658	IREB2	HP:0012736	Profound global developmental delay
3658	IREB2	HP:0012762	Cerebral white matter atrophy
3658	IREB2	HP:0034295	Reduced cerebral white matter volume
3658	IREB2	HP:0000369	Low-set ears
3658	IREB2	HP:0000322	Short philtrum
3658	IREB2	HP:0012448	Delayed myelination
3658	IREB2	HP:0000508	Ptosis
3659	IRF1	HP:0000006	Autosomal dominant inheritance
3659	IRF1	HP:0012126	Stomach cancer
3659	IRF1	HP:0410067	Increased level of L-fucose in urine
3659	IRF1	HP:0001428	Somatic mutation
3659	IRF1	HP:0030078	Lung adenocarcinoma
3659	IRF1	HP:0006519	Alveolar cell carcinoma
3659	IRF1	HP:0030358	Non-small cell lung carcinoma
3661	IRF3	HP:0001250	Seizure
3661	IRF3	HP:0031179	Nuchal rigidity
3661	IRF3	HP:0000006	Autosomal dominant inheritance
3661	IRF3	HP:0200149	CSF lymphocytic pleiocytosis
3661	IRF3	HP:0002315	Headache
3661	IRF3	HP:0003621	Juvenile onset
3661	IRF3	HP:0012302	Herpes simplex encephalitis
3662	IRF4	HP:0007256	Abnormal pyramidal sign
3662	IRF4	HP:0100829	Galactorrhea
3662	IRF4	HP:0001250	Seizure
3662	IRF4	HP:0001251	Ataxia
3662	IRF4	HP:0007440	Generalized hyperpigmentation
3662	IRF4	HP:0002516	Increased intracranial pressure
3662	IRF4	HP:0001369	Arthritis
3662	IRF4	HP:0001324	Muscle weakness
3662	IRF4	HP:0001336	Myoclonus
3662	IRF4	HP:0002615	Hypotension
3662	IRF4	HP:0002024	Malabsorption
3662	IRF4	HP:0002027	Abdominal pain
3662	IRF4	HP:0003326	Myalgia
3662	IRF4	HP:0002014	Diarrhea
3662	IRF4	HP:0002093	Respiratory insufficiency
3662	IRF4	HP:0002039	Anorexia
3662	IRF4	HP:0002102	Pleuritis
3662	IRF4	HP:0002240	Hepatomegaly
3662	IRF4	HP:0002239	Gastrointestinal hemorrhage
3662	IRF4	HP:0100721	Mediastinal lymphadenopathy
3662	IRF4	HP:0100749	Chest pain
3662	IRF4	HP:0002383	Infectious encephalitis
3662	IRF4	HP:0002360	Sleep disturbance
3662	IRF4	HP:0002376	Developmental regression
3662	IRF4	HP:0009830	Peripheral neuropathy
3662	IRF4	HP:0100614	Myositis
3662	IRF4	HP:0100639	Erectile dysfunction
3662	IRF4	HP:0010741	Pedal edema
3662	IRF4	HP:0006824	Cranial nerve paralysis
3662	IRF4	HP:0001945	Fever
3662	IRF4	HP:0001959	Polydipsia
3662	IRF4	HP:0001903	Anemia
3662	IRF4	HP:0004326	Cachexia
3662	IRF4	HP:0012735	Cough
3662	IRF4	HP:0000716	Depression
3662	IRF4	HP:0000855	Insulin resistance
3662	IRF4	HP:0012819	Myocarditis
3662	IRF4	HP:0000821	Hypothyroidism
3662	IRF4	HP:0002829	Arthralgia
3662	IRF4	HP:0000238	Hydrocephalus
3662	IRF4	HP:0012378	Fatigue
3662	IRF4	HP:0002902	Hyponatremia
3662	IRF4	HP:0001658	Myocardial infarction
3662	IRF4	HP:0001701	Pericarditis
3662	IRF4	HP:0001744	Splenomegaly
3662	IRF4	HP:0000520	Proptosis
3662	IRF4	HP:0000554	Uveitis
3663	IRF5	HP:0100958	Narrow foramen obturatorium
3663	IRF5	HP:0001278	Orthostatic hypotension
3663	IRF5	HP:0001262	Excessive daytime somnolence
3663	IRF5	HP:0000083	Renal insufficiency
3663	IRF5	HP:0001399	Hepatic failure
3663	IRF5	HP:0001395	Hepatic fibrosis
3663	IRF5	HP:0001394	Cirrhosis
3663	IRF5	HP:0001371	Flexion contracture
3663	IRF5	HP:0001369	Arthritis
3663	IRF5	HP:0001324	Muscle weakness
3663	IRF5	HP:0002613	Biliary cirrhosis
3663	IRF5	HP:0002608	Celiac disease
3663	IRF5	HP:0002797	Osteolysis
3663	IRF5	HP:0012115	Hepatitis
3663	IRF5	HP:0001409	Portal hypertension
3663	IRF5	HP:0001402	Hepatocellular carcinoma
3663	IRF5	HP:0002024	Malabsorption
3663	IRF5	HP:0002020	Gastroesophageal reflux
3663	IRF5	HP:0002017	Nausea and vomiting
3663	IRF5	HP:0002015	Dysphagia
3663	IRF5	HP:0002094	Dyspnea
3663	IRF5	HP:0002092	Pulmonary arterial hypertension
3663	IRF5	HP:0100520	Oliguria
3663	IRF5	HP:0100585	Telangiectasia of the skin
3663	IRF5	HP:0100579	Mucosal telangiectasiae
3663	IRF5	HP:0009473	Joint contracture of the hand
3663	IRF5	HP:0002113	Pulmonary infiltrates
3663	IRF5	HP:0003496	Increased circulating IgM level
3663	IRF5	HP:0003493	Antinuclear antibody positivity
3663	IRF5	HP:0002206	Pulmonary fibrosis
3663	IRF5	HP:0100735	Hypertensive crisis
3663	IRF5	HP:0008366	Foot joint contracture
3663	IRF5	HP:0011971	Dermatographic urticaria
3663	IRF5	HP:0001053	Hypopigmented skin patches
3663	IRF5	HP:0002360	Sleep disturbance
3663	IRF5	HP:0001000	Abnormality of skin pigmentation
3663	IRF5	HP:0200042	Skin ulcer
3663	IRF5	HP:0000670	Carious teeth
3663	IRF5	HP:0003073	Hypoalbuminemia
3663	IRF5	HP:0004386	Gastrointestinal inflammation
3663	IRF5	HP:0003119	Abnormal circulating lipid concentration
3663	IRF5	HP:0003155	Elevated circulating alkaline phosphatase concentration
3663	IRF5	HP:0000820	Abnormality of the thyroid gland
3663	IRF5	HP:0003270	Abdominal distention
3663	IRF5	HP:0003261	Increased circulating IgA level
3663	IRF5	HP:0000989	Pruritus
3663	IRF5	HP:0000953	Hyperpigmentation of the skin
3663	IRF5	HP:0000952	Jaundice
3663	IRF5	HP:0000951	Abnormality of the skin
3663	IRF5	HP:0000939	Osteoporosis
3663	IRF5	HP:0002829	Arthralgia
3663	IRF5	HP:0012203	Onychomycosis
3663	IRF5	HP:0000217	Xerostomia
3663	IRF5	HP:0030016	Dyspareunia
3663	IRF5	HP:0001541	Ascites
3663	IRF5	HP:0002841	Recurrent fungal infections
3663	IRF5	HP:0012378	Fatigue
3663	IRF5	HP:0011040	Abnormal intrahepatic bile duct morphology
3663	IRF5	HP:0002908	Conjugated hyperbilirubinemia
3663	IRF5	HP:0030142	Abnormal bowel sounds
3663	IRF5	HP:0002960	Autoimmunity
3663	IRF5	HP:0001635	Congestive heart failure
3664	IRF6	HP:0001171	Split hand
3664	IRF6	HP:0003745	Sporadic
3664	IRF6	HP:0006101	Finger syndactyly
3664	IRF6	HP:0008726	Hypoplasia of the vagina
3664	IRF6	HP:0010982	Polygenic inheritance
3664	IRF6	HP:0000062	Ambiguous genitalia
3664	IRF6	HP:0000059	Hypoplastic labia majora
3664	IRF6	HP:0000046	Small scrotum
3664	IRF6	HP:0001387	Joint stiffness
3664	IRF6	HP:0000048	Bifid scrotum
3664	IRF6	HP:0000028	Cryptorchidism
3664	IRF6	HP:0008872	Feeding difficulties in infancy
3664	IRF6	HP:0410011	Abnormality of masticatory muscle
3664	IRF6	HP:0001328	Specific learning disability
3664	IRF6	HP:0000013	Hypoplasia of the uterus
3664	IRF6	HP:0000006	Autosomal dominant inheritance
3664	IRF6	HP:0002650	Scoliosis
3664	IRF6	HP:0000193	Bifid uvula
3664	IRF6	HP:0000196	Lower lip pit
3664	IRF6	HP:0000175	Cleft palate
3664	IRF6	HP:0006342	Peg-shaped maxillary lateral incisors
3664	IRF6	HP:0006344	Abnormality of primary molar morphology
3664	IRF6	HP:0006332	Supernumerary maxillary incisor
3664	IRF6	HP:0006336	Short dental root
3664	IRF6	HP:0006292	Abnormality of dental eruption
3664	IRF6	HP:0006297	Enamel hypoplasia
3664	IRF6	HP:0006289	Agenesis of central incisor
3664	IRF6	HP:0002793	Abnormal pattern of respiration
3664	IRF6	HP:0002033	Poor suck
3664	IRF6	HP:0002015	Dysphagia
3664	IRF6	HP:0010554	Cutaneous finger syndactyly
3664	IRF6	HP:0008288	Nonketotic hyperglycinemia
3664	IRF6	HP:0003577	Congenital onset
3664	IRF6	HP:0002230	Generalized hirsutism
3664	IRF6	HP:0200153	Agenesis of lateral incisor
3664	IRF6	HP:0200136	Oral-pharyngeal dysphagia
3664	IRF6	HP:0009755	Ankyloblepharon
3664	IRF6	HP:0009754	Fibrous syngnathia
3664	IRF6	HP:0009757	Intercrural pterygium
3664	IRF6	HP:0009756	Popliteal pterygium
3664	IRF6	HP:0009758	Pyramidal skinfold extending from the base to the top of the nails
3664	IRF6	HP:0009088	Speech articulation difficulties
3664	IRF6	HP:0000696	Delayed eruption of permanent teeth
3664	IRF6	HP:0000684	Delayed eruption of teeth
3664	IRF6	HP:0000679	Taurodontia
3664	IRF6	HP:0000677	Oligodontia
3664	IRF6	HP:0000691	Microdontia
3664	IRF6	HP:0000690	Agenesis of maxillary lateral incisor
3664	IRF6	HP:0000689	Dental malocclusion
3664	IRF6	HP:0000685	Hypoplasia of teeth
3664	IRF6	HP:0000687	Widely spaced teeth
3664	IRF6	HP:0000668	Hypodontia
3664	IRF6	HP:0004395	Malnutrition
3664	IRF6	HP:0000772	Abnormal rib morphology
3664	IRF6	HP:0000750	Delayed speech and language development
3664	IRF6	HP:0000726	Dementia
3664	IRF6	HP:0000708	Atypical behavior
3664	IRF6	HP:0011438	Maternal teratogenic exposure
3664	IRF6	HP:0040115	Abnormal Eustachian tube morphology
3664	IRF6	HP:0100336	Bilateral cleft lip
3664	IRF6	HP:0100337	Bilateral cleft palate
3664	IRF6	HP:0100334	Unilateral cleft palate
3664	IRF6	HP:0100335	Non-midline cleft lip
3664	IRF6	HP:0010294	Palate fistula
3664	IRF6	HP:0010286	Abnormal salivary gland morphology
3664	IRF6	HP:0003298	Spina bifida occulta
3664	IRF6	HP:0100267	Lip pit
3664	IRF6	HP:0001597	Abnormality of the nail
3664	IRF6	HP:0000271	Abnormality of the face
3664	IRF6	HP:0005105	Abnormal nasal morphology
3664	IRF6	HP:0001572	Macrodontia
3664	IRF6	HP:0000220	Velopharyngeal insufficiency
3664	IRF6	HP:0000219	Thin upper lip vermilion
3664	IRF6	HP:0001561	Polyhydramnios
3664	IRF6	HP:0001537	Umbilical hernia
3664	IRF6	HP:0000202	Orofacial cleft
3664	IRF6	HP:0000204	Cleft upper lip
3664	IRF6	HP:0001518	Small for gestational age
3664	IRF6	HP:0011078	Abnormality of canine
3664	IRF6	HP:0011053	Agenesis of mandibular premolar
3664	IRF6	HP:0011051	Agenesis of premolar
3664	IRF6	HP:0011056	Agenesis of first permanent molar tooth
3664	IRF6	HP:0011044	Abnormal number of permanent teeth
3664	IRF6	HP:0000389	Chronic otitis media
3664	IRF6	HP:0005216	Impaired mastication
3664	IRF6	HP:0001611	Hypernasal speech
3664	IRF6	HP:0006482	Abnormality of dental morphology
3664	IRF6	HP:0001696	Situs inversus totalis
3664	IRF6	HP:0000347	Micrognathia
3664	IRF6	HP:0031469	Low self esteem
3664	IRF6	HP:0000327	Hypoplasia of the maxilla
3664	IRF6	HP:0005324	Disturbance of facial expression
3664	IRF6	HP:0000403	Recurrent otitis media
3664	IRF6	HP:0000405	Conductive hearing impairment
3664	IRF6	HP:0012472	Eclabion
3664	IRF6	HP:0001770	Toe syndactyly
3664	IRF6	HP:0000453	Choanal atresia
3664	IRF6	HP:0000419	Abnormal nasal septum morphology
3664	IRF6	HP:0001762	Talipes equinovarus
3664	IRF6	HP:0011219	Short face
3665	IRF7	HP:0000007	Autosomal recessive inheritance
3665	IRF7	HP:0002721	Immunodeficiency
3665	IRF7	HP:0011463	Childhood onset
3665	IRF7	HP:0034249	Severe influenza infection
3667	IRS1	HP:0000006	Autosomal dominant inheritance
3667	IRS1	HP:0005978	Type II diabetes mellitus
3667	IRS1	HP:0003584	Late onset
3667	IRS1	HP:0031819	Increased waist to hip ratio
3667	IRS1	HP:0000855	Insulin resistance
3670	ISL1	HP:0002566	Intestinal malrotation
3670	ISL1	HP:0008736	Hypoplasia of penis
3670	ISL1	HP:0000076	Vesicoureteral reflux
3670	ISL1	HP:0000069	Abnormality of the ureter
3670	ISL1	HP:0000039	Epispadias
3670	ISL1	HP:0000056	Abnormality of the clitoris
3670	ISL1	HP:0000023	Inguinal hernia
3670	ISL1	HP:0000010	Recurrent urinary tract infections
3670	ISL1	HP:0002607	Bowel incontinence
3670	ISL1	HP:0004378	Abnormality of the anus
3670	ISL1	HP:0001537	Umbilical hernia
3670	ISL1	HP:0001539	Omphalocele
3670	ISL1	HP:0002836	Bladder exstrophy
3673	ITGA2	HP:0008619	Bilateral sensorineural hearing impairment
3673	ITGA2	HP:0001263	Global developmental delay
3673	ITGA2	HP:0007420	Spontaneous hematomas
3673	ITGA2	HP:0002138	Subarachnoid hemorrhage
3673	ITGA2	HP:0002170	Intracranial hemorrhage
3673	ITGA2	HP:0002239	Gastrointestinal hemorrhage
3673	ITGA2	HP:0002249	Melena
3673	ITGA2	HP:0004809	Neonatal alloimmune thrombocytopenia
3673	ITGA2	HP:0000618	Blindness
3673	ITGA2	HP:0100021	Cerebral palsy
3673	ITGA2	HP:0000707	Abnormality of the nervous system
3673	ITGA2	HP:0000790	Hematuria
3673	ITGA2	HP:0000979	Purpura
3673	ITGA2	HP:0000967	Petechiae
3673	ITGA2	HP:0031364	Ecchymosis
3673	ITGA2	HP:0001892	Abnormal bleeding
3673	ITGA2	HP:0012541	Cephalohematoma
3674	ITGA2B	HP:0008619	Bilateral sensorineural hearing impairment
3674	ITGA2B	HP:0001263	Global developmental delay
3674	ITGA2B	HP:0007420	Spontaneous hematomas
3674	ITGA2B	HP:0000007	Autosomal recessive inheritance
3674	ITGA2B	HP:0000006	Autosomal dominant inheritance
3674	ITGA2B	HP:0032438	Platelet anisocytosis
3674	ITGA2B	HP:0031126	Impaired clot retraction
3674	ITGA2B	HP:0031128	Impaired collagen-related peptide-induced platelet aggregation
3674	ITGA2B	HP:0000132	Menorrhagia
3674	ITGA2B	HP:0008148	Impaired epinephrine-induced platelet aggregation
3674	ITGA2B	HP:0002138	Subarachnoid hemorrhage
3674	ITGA2B	HP:0002170	Intracranial hemorrhage
3674	ITGA2B	HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation
3674	ITGA2B	HP:0011872	Impaired thrombin-induced platelet aggregation
3674	ITGA2B	HP:0011873	Abnormal platelet count
3674	ITGA2B	HP:0011870	Impaired arachidonic acid-induced platelet aggregation
3674	ITGA2B	HP:0011871	Impaired ristocetin-induced platelet aggregation
3674	ITGA2B	HP:0002239	Gastrointestinal hemorrhage
3674	ITGA2B	HP:0002249	Melena
3674	ITGA2B	HP:0003540	Impaired platelet aggregation
3674	ITGA2B	HP:0004866	Impaired ADP-induced platelet aggregation
3674	ITGA2B	HP:0008320	Impaired collagen-induced platelet aggregation
3674	ITGA2B	HP:0004846	Prolonged bleeding after surgery
3674	ITGA2B	HP:0004809	Neonatal alloimmune thrombocytopenia
3674	ITGA2B	HP:0003623	Neonatal onset
3674	ITGA2B	HP:0001975	Decreased platelet glycoprotein IIb-IIIa
3674	ITGA2B	HP:0000618	Blindness
3674	ITGA2B	HP:0001903	Anemia
3674	ITGA2B	HP:0001902	Giant platelets
3674	ITGA2B	HP:0003010	Prolonged bleeding time
3674	ITGA2B	HP:0400008	Menometrorrhagia
3674	ITGA2B	HP:0100021	Cerebral palsy
3674	ITGA2B	HP:0000707	Abnormality of the nervous system
3674	ITGA2B	HP:0000790	Hematuria
3674	ITGA2B	HP:0004406	Spontaneous, recurrent epistaxis
3674	ITGA2B	HP:0100309	Subdural hemorrhage
3674	ITGA2B	HP:0000979	Purpura
3674	ITGA2B	HP:0000978	Bruising susceptibility
3674	ITGA2B	HP:0000967	Petechiae
3674	ITGA2B	HP:0040185	Macrothrombocytopenia
3674	ITGA2B	HP:0000225	Gingival bleeding
3674	ITGA2B	HP:0031364	Ecchymosis
3674	ITGA2B	HP:0030138	Excessive bleeding from superficial cuts
3674	ITGA2B	HP:0030137	Prolonged bleeding following circumcision
3674	ITGA2B	HP:0000421	Epistaxis
3674	ITGA2B	HP:0012587	Macroscopic hematuria
3674	ITGA2B	HP:0001892	Abnormal bleeding
3674	ITGA2B	HP:0012541	Cephalohematoma
3674	ITGA2B	HP:0001873	Thrombocytopenia
3675	ITGA3	HP:0001252	Hypotonia
3675	ITGA3	HP:0000083	Renal insufficiency
3675	ITGA3	HP:0000097	Focal segmental glomerulosclerosis
3675	ITGA3	HP:0000093	Proteinuria
3675	ITGA3	HP:0000092	Renal tubular atrophy
3675	ITGA3	HP:0000007	Autosomal recessive inheritance
3675	ITGA3	HP:0002643	Neonatal respiratory distress
3675	ITGA3	HP:0000160	Narrow mouth
3675	ITGA3	HP:0000100	Nephrotic syndrome
3675	ITGA3	HP:0005972	Respiratory acidosis
3675	ITGA3	HP:0002098	Respiratory distress
3675	ITGA3	HP:0003593	Infantile onset
3675	ITGA3	HP:0003577	Congenital onset
3675	ITGA3	HP:0002213	Fine hair
3675	ITGA3	HP:0002209	Sparse scalp hair
3675	ITGA3	HP:0002205	Recurrent respiratory infections
3675	ITGA3	HP:0008404	Nail dystrophy
3675	ITGA3	HP:0001030	Fragile skin
3675	ITGA3	HP:0010783	Erythema
3675	ITGA3	HP:0003623	Neonatal onset
3675	ITGA3	HP:0000653	Sparse eyelashes
3675	ITGA3	HP:0003073	Hypoalbuminemia
3675	ITGA3	HP:0000771	Gynecomastia
3675	ITGA3	HP:0000774	Narrow chest
3675	ITGA3	HP:0045075	Sparse eyebrow
3675	ITGA3	HP:0008066	Abnormal blistering of the skin
3675	ITGA3	HP:0000252	Microcephaly
3675	ITGA3	HP:0012213	Decreased glomerular filtration rate
3675	ITGA3	HP:0006530	Abnormal pulmonary interstitial morphology
3675	ITGA3	HP:0000316	Hypertelorism
3675	ITGA3	HP:0000311	Round face
3675	ITGA3	HP:0000400	Macrotia
3675	ITGA3	HP:0000448	Prominent nose
3675	ITGA3	HP:0001806	Onycholysis
3675	ITGA3	HP:0011220	Prominent forehead
3679	ITGA7	HP:0002421	Poor head control
3679	ITGA7	HP:0003749	Pelvic girdle muscle weakness
3679	ITGA7	HP:0003741	Congenital muscular dystrophy
3679	ITGA7	HP:0001270	Motor delay
3679	ITGA7	HP:0001284	Areflexia
3679	ITGA7	HP:0001252	Hypotonia
3679	ITGA7	HP:0001249	Intellectual disability
3679	ITGA7	HP:0001374	Congenital hip dislocation
3679	ITGA7	HP:0001371	Flexion contracture
3679	ITGA7	HP:0001324	Muscle weakness
3679	ITGA7	HP:0000007	Autosomal recessive inheritance
3679	ITGA7	HP:0002650	Scoliosis
3679	ITGA7	HP:0001315	Reduced tendon reflexes
3679	ITGA7	HP:0002751	Kyphoscoliosis
3679	ITGA7	HP:0002747	Respiratory insufficiency due to muscle weakness
3679	ITGA7	HP:0002015	Dysphagia
3679	ITGA7	HP:0003307	Hyperlordosis
3679	ITGA7	HP:0003323	Progressive muscle weakness
3679	ITGA7	HP:0003324	Generalized muscle weakness
3679	ITGA7	HP:0011807	Type 1 muscle fiber atrophy
3679	ITGA7	HP:0002086	Abnormality of the respiratory system
3679	ITGA7	HP:0003391	Gowers sign
3679	ITGA7	HP:0002058	Myopathic facies
3679	ITGA7	HP:0003388	Easy fatigability
3679	ITGA7	HP:0011842	Abnormal skeletal morphology
3679	ITGA7	HP:0003593	Infantile onset
3679	ITGA7	HP:0003577	Congenital onset
3679	ITGA7	HP:0003547	Shoulder girdle muscle weakness
3679	ITGA7	HP:0004878	Intercostal muscle weakness
3679	ITGA7	HP:0003557	Increased variability in muscle fiber diameter
3679	ITGA7	HP:0002205	Recurrent respiratory infections
3679	ITGA7	HP:0011968	Feeding difficulties
3679	ITGA7	HP:0011951	Aspiration pneumonia
3679	ITGA7	HP:0002360	Sleep disturbance
3679	ITGA7	HP:0002315	Headache
3679	ITGA7	HP:0000602	Ophthalmoplegia
3679	ITGA7	HP:0009027	Foot dorsiflexor weakness
3679	ITGA7	HP:0000678	Dental crowding
3679	ITGA7	HP:0009004	Hypoplasia of the musculature
3679	ITGA7	HP:0004396	Poor appetite
3679	ITGA7	HP:0004347	Weakness of muscles of respiration
3679	ITGA7	HP:0000767	Pectus excavatum
3679	ITGA7	HP:0011470	Nasogastric tube feeding in infancy
3679	ITGA7	HP:0012785	Flexion contracture of finger
3679	ITGA7	HP:0003236	Elevated circulating creatine kinase concentration
3679	ITGA7	HP:0003202	Skeletal muscle atrophy
3679	ITGA7	HP:0003273	Hip contracture
3679	ITGA7	HP:0000276	Long face
3679	ITGA7	HP:0006466	Ankle flexion contracture
3679	ITGA7	HP:0006380	Knee flexion contracture
3679	ITGA7	HP:0002878	Respiratory failure
3679	ITGA7	HP:0000218	High palate
3679	ITGA7	HP:0001561	Polyhydramnios
3679	ITGA7	HP:0001558	Decreased fetal movement
3679	ITGA7	HP:0001508	Failure to thrive
3679	ITGA7	HP:0012378	Fatigue
3679	ITGA7	HP:0005216	Impaired mastication
3679	ITGA7	HP:0001609	Hoarse voice
3679	ITGA7	HP:0030192	Fatigable weakness of bulbar muscles
3679	ITGA7	HP:0000347	Micrognathia
3679	ITGA7	HP:0001648	Cor pulmonale
3679	ITGA7	HP:0002987	Elbow flexion contracture
3679	ITGA7	HP:0001627	Abnormal heart morphology
3679	ITGA7	HP:0030319	Weakness of facial musculature
3679	ITGA7	HP:0000473	Torticollis
3679	ITGA7	HP:0012416	Hypercapnia
3679	ITGA7	HP:0012418	Hypoxemia
3679	ITGA7	HP:0001762	Talipes equinovarus
3679	ITGA7	HP:0001761	Pes cavus
3679	ITGA7	HP:0001824	Weight loss
3679	ITGA7	HP:0012548	Fatty replacement of skeletal muscle
3689	ITGB2	HP:0007499	Recurrent staphylococcal infections
3689	ITGB2	HP:0000007	Autosomal recessive inheritance
3689	ITGB2	HP:0032434	Delayed umbilical cord separation
3689	ITGB2	HP:0032435	Neonatal omphalitis
3689	ITGB2	HP:0002754	Osteomyelitis
3689	ITGB2	HP:0002719	Recurrent infections
3689	ITGB2	HP:0002718	Recurrent bacterial infections
3689	ITGB2	HP:0002728	Chronic mucocutaneous candidiasis
3689	ITGB2	HP:0002028	Chronic diarrhea
3689	ITGB2	HP:0011899	Hyperfibrinogenemia
3689	ITGB2	HP:0001058	Poor wound healing
3689	ITGB2	HP:0200042	Skin ulcer
3689	ITGB2	HP:0003623	Neonatal onset
3689	ITGB2	HP:0001974	Leukocytosis
3689	ITGB2	HP:0000704	Periodontitis
3689	ITGB2	HP:0000230	Gingivitis
3689	ITGB2	HP:0005224	Rectal abscess
3689	ITGB2	HP:0005420	Recurrent gram-negative bacterial infections
3689	ITGB2	HP:0011227	Elevated circulating C-reactive protein concentration
3690	ITGB3	HP:0008619	Bilateral sensorineural hearing impairment
3690	ITGB3	HP:0001263	Global developmental delay
3690	ITGB3	HP:0007420	Spontaneous hematomas
3690	ITGB3	HP:0000007	Autosomal recessive inheritance
3690	ITGB3	HP:0000006	Autosomal dominant inheritance
3690	ITGB3	HP:0032438	Platelet anisocytosis
3690	ITGB3	HP:0031126	Impaired clot retraction
3690	ITGB3	HP:0031128	Impaired collagen-related peptide-induced platelet aggregation
3690	ITGB3	HP:0006298	Prolonged bleeding after dental extraction
3690	ITGB3	HP:0000132	Menorrhagia
3690	ITGB3	HP:0008148	Impaired epinephrine-induced platelet aggregation
3690	ITGB3	HP:0002138	Subarachnoid hemorrhage
3690	ITGB3	HP:0002170	Intracranial hemorrhage
3690	ITGB3	HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation
3690	ITGB3	HP:0011877	Increased mean platelet volume
3690	ITGB3	HP:0011872	Impaired thrombin-induced platelet aggregation
3690	ITGB3	HP:0011870	Impaired arachidonic acid-induced platelet aggregation
3690	ITGB3	HP:0011871	Impaired ristocetin-induced platelet aggregation
3690	ITGB3	HP:0002239	Gastrointestinal hemorrhage
3690	ITGB3	HP:0002249	Melena
3690	ITGB3	HP:0004866	Impaired ADP-induced platelet aggregation
3690	ITGB3	HP:0008320	Impaired collagen-induced platelet aggregation
3690	ITGB3	HP:0004846	Prolonged bleeding after surgery
3690	ITGB3	HP:0004809	Neonatal alloimmune thrombocytopenia
3690	ITGB3	HP:0003623	Neonatal onset
3690	ITGB3	HP:0001975	Decreased platelet glycoprotein IIb-IIIa
3690	ITGB3	HP:0000618	Blindness
3690	ITGB3	HP:0003010	Prolonged bleeding time
3690	ITGB3	HP:0400008	Menometrorrhagia
3690	ITGB3	HP:0100021	Cerebral palsy
3690	ITGB3	HP:0000707	Abnormality of the nervous system
3690	ITGB3	HP:0000790	Hematuria
3690	ITGB3	HP:0004406	Spontaneous, recurrent epistaxis
3690	ITGB3	HP:0000979	Purpura
3690	ITGB3	HP:0000978	Bruising susceptibility
3690	ITGB3	HP:0000967	Petechiae
3690	ITGB3	HP:0000225	Gingival bleeding
3690	ITGB3	HP:0031364	Ecchymosis
3690	ITGB3	HP:0030137	Prolonged bleeding following circumcision
3690	ITGB3	HP:0000421	Epistaxis
3690	ITGB3	HP:0012587	Macroscopic hematuria
3690	ITGB3	HP:0001892	Abnormal bleeding
3690	ITGB3	HP:0012541	Cephalohematoma
3690	ITGB3	HP:0001873	Thrombocytopenia
3691	ITGB4	HP:0008551	Microtia
3691	ITGB4	HP:0002555	Absent pubic hair
3691	ITGB4	HP:0006101	Finger syndactyly
3691	ITGB4	HP:0031045	Acral blistering
3691	ITGB4	HP:0007383	Congenital localized absence of skin
3691	ITGB4	HP:0007385	Aplasia cutis congenita of scalp
3691	ITGB4	HP:0008661	Urethral stenosis
3691	ITGB4	HP:0000096	Glomerular sclerosis
3691	ITGB4	HP:0000079	Abnormality of the urinary system
3691	ITGB4	HP:0000075	Renal duplication
3691	ITGB4	HP:0000070	Ureterocele
3691	ITGB4	HP:0001371	Flexion contracture
3691	ITGB4	HP:0001362	Calvarial skull defect
3691	ITGB4	HP:0000007	Autosomal recessive inheritance
3691	ITGB4	HP:0006357	Premature loss of permanent teeth
3691	ITGB4	HP:0006297	Enamel hypoplasia
3691	ITGB4	HP:0007585	Skin fragility with non-scarring blistering
3691	ITGB4	HP:0007589	Aplasia cutis congenita on trunk or limbs
3691	ITGB4	HP:0000126	Hydronephrosis
3691	ITGB4	HP:0000110	Renal dysplasia
3691	ITGB4	HP:0002017	Nausea and vomiting
3691	ITGB4	HP:0002032	Esophageal atresia
3691	ITGB4	HP:0002013	Vomiting
3691	ITGB4	HP:0003341	Lamina lucida cleavage
3691	ITGB4	HP:0005984	Elevated maternal serum alpha-fetoprotein
3691	ITGB4	HP:0002041	Intractable diarrhea
3691	ITGB4	HP:0100577	Urinary bladder inflammation
3691	ITGB4	HP:0010477	Aplasia of the bladder
3691	ITGB4	HP:0002164	Nail dysplasia
3691	ITGB4	HP:0003577	Congenital onset
3691	ITGB4	HP:0002221	Absent axillary hair
3691	ITGB4	HP:0002215	Sparse axillary hair
3691	ITGB4	HP:0002231	Sparse body hair
3691	ITGB4	HP:0003560	Muscular dystrophy
3691	ITGB4	HP:0002225	Sparse pubic hair
3691	ITGB4	HP:0008400	Onycholysis of distal fingernails
3691	ITGB4	HP:0008404	Nail dystrophy
3691	ITGB4	HP:0009722	Dental enamel pits
3691	ITGB4	HP:0002293	Alopecia of scalp
3691	ITGB4	HP:0200097	Oral mucosal blisters
3691	ITGB4	HP:0010628	Facial palsy
3691	ITGB4	HP:0008391	Dystrophic fingernails
3691	ITGB4	HP:0001056	Milia
3691	ITGB4	HP:0001057	Aplasia cutis congenita
3691	ITGB4	HP:0001060	Axillary pterygium
3691	ITGB4	HP:0001059	Pterygium
3691	ITGB4	HP:0001030	Fragile skin
3691	ITGB4	HP:0001000	Abnormality of skin pigmentation
3691	ITGB4	HP:0001075	Atrophic scars
3691	ITGB4	HP:0200042	Skin ulcer
3691	ITGB4	HP:0200041	Skin erosion
3691	ITGB4	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes
3691	ITGB4	HP:0032156	Skin detachment
3691	ITGB4	HP:0001903	Anemia
3691	ITGB4	HP:0000656	Ectropion
3691	ITGB4	HP:0004399	Congenital pyloric atresia
3691	ITGB4	HP:0034193	Stratum basale cleavage
3691	ITGB4	HP:0003010	Prolonged bleeding time
3691	ITGB4	HP:0004348	Abnormality of bone mineral density
3691	ITGB4	HP:0000795	Abnormality of the urethra
3691	ITGB4	HP:0000790	Hematuria
3691	ITGB4	HP:0003121	Limb joint contracture
3691	ITGB4	HP:0004471	Aplasia cutis congenita over the scalp vertex
3691	ITGB4	HP:0003236	Elevated circulating creatine kinase concentration
3691	ITGB4	HP:0004552	Scarring alopecia of scalp
3691	ITGB4	HP:0004529	Atrophic, patchy alopecia
3691	ITGB4	HP:0034378	Urethrovesical occlusion
3691	ITGB4	HP:0003270	Abdominal distention
3691	ITGB4	HP:0010301	Spinal dysraphism
3691	ITGB4	HP:0000987	Atypical scarring of skin
3691	ITGB4	HP:0000982	Palmoplantar keratoderma
3691	ITGB4	HP:0008066	Abnormal blistering of the skin
3691	ITGB4	HP:0002804	Arthrogryposis multiplex congenita
3691	ITGB4	HP:0012227	Urethral stricture
3691	ITGB4	HP:0001581	Recurrent skin infections
3691	ITGB4	HP:0001561	Polyhydramnios
3691	ITGB4	HP:0001522	Death in infancy
3691	ITGB4	HP:0001510	Growth delay
3691	ITGB4	HP:0011073	Abnormality of dental color
3691	ITGB4	HP:0004057	Mitten deformity
3691	ITGB4	HP:0001798	Anonychia
3691	ITGB4	HP:0001770	Toe syndactyly
3691	ITGB4	HP:0011100	Intestinal atresia
3691	ITGB4	HP:0001805	Onychogryposis
3691	ITGB4	HP:0001810	Dystrophic toenail
3694	ITGB6	HP:0001171	Split hand
3694	ITGB6	HP:0001156	Brachydactyly
3694	ITGB6	HP:0001250	Seizure
3694	ITGB6	HP:0001252	Hypotonia
3694	ITGB6	HP:0001249	Intellectual disability
3694	ITGB6	HP:0100840	Aplasia/Hypoplasia of the eyebrow
3694	ITGB6	HP:0001371	Flexion contracture
3694	ITGB6	HP:0000007	Autosomal recessive inheritance
3694	ITGB6	HP:0002650	Scoliosis
3694	ITGB6	HP:0006297	Enamel hypoplasia
3694	ITGB6	HP:0006286	Yellow-brown discoloration of the teeth
3694	ITGB6	HP:0002750	Delayed skeletal maturation
3694	ITGB6	HP:0011842	Abnormal skeletal morphology
3694	ITGB6	HP:0002231	Sparse body hair
3694	ITGB6	HP:0002209	Sparse scalp hair
3694	ITGB6	HP:0009722	Dental enamel pits
3694	ITGB6	HP:0002353	EEG abnormality
3694	ITGB6	HP:0200012	Short corpus callosum
3694	ITGB6	HP:0000613	Photophobia
3694	ITGB6	HP:0004322	Short stature
3694	ITGB6	HP:0009102	Anterior open-bite malocclusion
3694	ITGB6	HP:0000705	Amelogenesis imperfecta
3694	ITGB6	HP:0000815	Hypergonadotropic hypogonadism
3694	ITGB6	HP:0008064	Ichthyosis
3694	ITGB6	HP:0001596	Alopecia
3694	ITGB6	HP:0005105	Abnormal nasal morphology
3694	ITGB6	HP:0000252	Microcephaly
3694	ITGB6	HP:0001510	Growth delay
3694	ITGB6	HP:0000365	Hearing impairment
3694	ITGB6	HP:0000400	Macrotia
3702	ITK	HP:0000007	Autosomal recessive inheritance
3702	ITK	HP:0012191	B-cell lymphoma
3702	ITK	HP:0012189	Hodgkin lymphoma
3702	ITK	HP:0012156	Hemophagocytosis
3702	ITK	HP:0002719	Recurrent infections
3702	ITK	HP:0002716	Lymphadenopathy
3702	ITK	HP:0002240	Hepatomegaly
3702	ITK	HP:0003565	Elevated erythrocyte sedimentation rate
3702	ITK	HP:0002202	Pleural effusion
3702	ITK	HP:0020072	Persistent EBV viremia
3702	ITK	HP:0003621	Juvenile onset
3702	ITK	HP:0005523	Lymphoproliferative disorder
3702	ITK	HP:0001973	Autoimmune thrombocytopenia
3702	ITK	HP:0001954	Recurrent fever
3702	ITK	HP:0001903	Anemia
3702	ITK	HP:0004315	Decreased circulating IgG level
3702	ITK	HP:0004313	Decreased circulating antibody level
3702	ITK	HP:0011463	Childhood onset
3702	ITK	HP:0010280	Stomatitis
3702	ITK	HP:0003281	Increased circulating ferritin concentration
3702	ITK	HP:0001698	Pericardial effusion
3702	ITK	HP:0002960	Autoimmunity
3702	ITK	HP:0001744	Splenomegaly
3702	ITK	HP:0005407	Decreased proportion of CD4-positive helper T cells
3702	ITK	HP:0011227	Elevated circulating C-reactive protein concentration
3702	ITK	HP:0001890	Autoimmune hemolytic anemia
3702	ITK	HP:0001882	Leukopenia
3702	ITK	HP:0001873	Thrombocytopenia
3702	ITK	HP:0001876	Pancytopenia
3703	STT3A	HP:0009890	High anterior hairline
3703	STT3A	HP:0003712	Skeletal muscle hypertrophy
3703	STT3A	HP:0001290	Generalized hypotonia
3703	STT3A	HP:0001276	Hypertonia
3703	STT3A	HP:0001272	Cerebellar atrophy
3703	STT3A	HP:0001270	Motor delay
3703	STT3A	HP:0001250	Seizure
3703	STT3A	HP:0001252	Hypotonia
3703	STT3A	HP:0001249	Intellectual disability
3703	STT3A	HP:0001263	Global developmental delay
3703	STT3A	HP:0000046	Small scrotum
3703	STT3A	HP:0000054	Micropenis
3703	STT3A	HP:0000028	Cryptorchidism
3703	STT3A	HP:0000007	Autosomal recessive inheritance
3703	STT3A	HP:0000006	Autosomal dominant inheritance
3703	STT3A	HP:0002758	Osteoarthritis
3703	STT3A	HP:0003394	Muscle spasm
3703	STT3A	HP:0003596	Middle age onset
3703	STT3A	HP:0003593	Infantile onset
3703	STT3A	HP:0100702	Arachnoid cyst
3703	STT3A	HP:0011968	Feeding difficulties
3703	STT3A	HP:0002389	Cavum septum pellucidum
3703	STT3A	HP:0003623	Neonatal onset
3703	STT3A	HP:0003621	Juvenile onset
3703	STT3A	HP:0004322	Short stature
3703	STT3A	HP:0400004	Long ear
3703	STT3A	HP:0012745	Short palpebral fissure
3703	STT3A	HP:0000750	Delayed speech and language development
3703	STT3A	HP:0000718	Aggressive behavior
3703	STT3A	HP:0011463	Childhood onset
3703	STT3A	HP:0011462	Young adult onset
3703	STT3A	HP:0100309	Subdural hemorrhage
3703	STT3A	HP:0003186	Inverted nipples
3703	STT3A	HP:0000256	Macrocephaly
3703	STT3A	HP:0000276	Long face
3703	STT3A	HP:0007772	Impaired smooth pursuit
3703	STT3A	HP:0000252	Microcephaly
3703	STT3A	HP:0000219	Thin upper lip vermilion
3703	STT3A	HP:0001508	Failure to thrive
3703	STT3A	HP:0001511	Intrauterine growth retardation
3703	STT3A	HP:0012345	Abnormal glycosylation
3703	STT3A	HP:0000303	Mandibular prognathia
3703	STT3A	HP:0000486	Strabismus
3703	STT3A	HP:0000431	Wide nasal bridge
3704	ITPA	HP:0001298	Encephalopathy
3704	ITPA	HP:0001250	Seizure
3704	ITPA	HP:0001263	Global developmental delay
3704	ITPA	HP:0000007	Autosomal recessive inheritance
3704	ITPA	HP:0002059	Cerebral atrophy
3704	ITPA	HP:0002133	Status epilepticus
3704	ITPA	HP:0002188	Delayed CNS myelination
3704	ITPA	HP:0003593	Infantile onset
3704	ITPA	HP:0200085	Limb tremor
3704	ITPA	HP:0011968	Feeding difficulties
3704	ITPA	HP:0006829	Severe muscular hypotonia
3704	ITPA	HP:0000737	Irritability
3704	ITPA	HP:0000252	Microcephaly
3704	ITPA	HP:0001522	Death in infancy
3704	ITPA	HP:0001511	Intrauterine growth retardation
3704	ITPA	HP:0001620	High pitched voice
3704	ITPA	HP:0001638	Cardiomyopathy
3704	ITPA	HP:0012444	Brain atrophy
3704	ITPA	HP:0000518	Cataract
3708	ITPR1	HP:0002470	Nonprogressive cerebellar ataxia
3708	ITPR1	HP:0010862	Delayed fine motor development
3708	ITPR1	HP:0001290	Generalized hypotonia
3708	ITPR1	HP:0001272	Cerebellar atrophy
3708	ITPR1	HP:0001270	Motor delay
3708	ITPR1	HP:0001256	Intellectual disability, mild
3708	ITPR1	HP:0001252	Hypotonia
3708	ITPR1	HP:0001251	Ataxia
3708	ITPR1	HP:0001249	Intellectual disability
3708	ITPR1	HP:0001260	Dysarthria
3708	ITPR1	HP:0001263	Global developmental delay
3708	ITPR1	HP:0007351	Upper limb postural tremor
3708	ITPR1	HP:0025335	Delayed ability to stand
3708	ITPR1	HP:0001350	Slurred speech
3708	ITPR1	HP:0001347	Hyperreflexia
3708	ITPR1	HP:0033725	Thin corpus callosum
3708	ITPR1	HP:0000007	Autosomal recessive inheritance
3708	ITPR1	HP:0000006	Autosomal dominant inheritance
3708	ITPR1	HP:0001310	Dysmetria
3708	ITPR1	HP:0001320	Cerebellar vermis hypoplasia
3708	ITPR1	HP:0001321	Cerebellar hypoplasia
3708	ITPR1	HP:0007676	Hypoplasia of the iris
3708	ITPR1	HP:0025405	Visual fixation instability
3708	ITPR1	HP:0002080	Intention tremor
3708	ITPR1	HP:0100543	Cognitive impairment
3708	ITPR1	HP:0002066	Gait ataxia
3708	ITPR1	HP:0002078	Truncal ataxia
3708	ITPR1	HP:0002075	Dysdiadochokinesis
3708	ITPR1	HP:0002070	Limb ataxia
3708	ITPR1	HP:0002119	Ventriculomegaly
3708	ITPR1	HP:0002136	Broad-based gait
3708	ITPR1	HP:0002194	Delayed gross motor development
3708	ITPR1	HP:0002168	Scanning speech
3708	ITPR1	HP:0002167	Abnormality of speech or vocalization
3708	ITPR1	HP:0002174	Postural tremor
3708	ITPR1	HP:0003593	Infantile onset
3708	ITPR1	HP:0003577	Congenital onset
3708	ITPR1	HP:0003581	Adult onset
3708	ITPR1	HP:0002384	Focal impaired awareness seizure
3708	ITPR1	HP:0002345	Action tremor
3708	ITPR1	HP:0002346	Head tremor
3708	ITPR1	HP:0003677	Slowly progressive
3708	ITPR1	HP:0003621	Juvenile onset
3708	ITPR1	HP:0006855	Cerebellar vermis atrophy
3708	ITPR1	HP:0000640	Gaze-evoked nystagmus
3708	ITPR1	HP:0000639	Nystagmus
3708	ITPR1	HP:0000641	Dysmetric saccades
3708	ITPR1	HP:0000657	Oculomotor apraxia
3708	ITPR1	HP:0031936	Delayed ability to walk
3708	ITPR1	HP:0100022	Abnormality of movement
3708	ITPR1	HP:0000750	Delayed speech and language development
3708	ITPR1	HP:0004414	Abnormality of the pulmonary artery
3708	ITPR1	HP:0100275	Diffuse cerebellar atrophy
3708	ITPR1	HP:0000298	Mask-like facies
3708	ITPR1	HP:0007772	Impaired smooth pursuit
3708	ITPR1	HP:0030188	Tremor by anatomical site
3708	ITPR1	HP:0000364	Hearing abnormality
3708	ITPR1	HP:0001660	Truncus arteriosus
3708	ITPR1	HP:0030147	Truncal titubation
3708	ITPR1	HP:0031629	Impaired tandem gait
3708	ITPR1	HP:0007979	Gaze-evoked horizontal nystagmus
3708	ITPR1	HP:0012434	Delayed social development
3708	ITPR1	HP:0000526	Aniridia
3708	ITPR1	HP:0000505	Visual impairment
3708	ITPR1	HP:0000570	Abnormal saccadic eye movements
3709	ITPR2	HP:0007459	Generalized anhidrosis
3709	ITPR2	HP:0000007	Autosomal recessive inheritance
3709	ITPR2	HP:0002046	Heat intolerance
3709	ITPR2	HP:0001595	Abnormal hair morphology
3709	ITPR2	HP:0001507	Growth abnormality
3710	ITPR3	HP:0002460	Distal muscle weakness
3710	ITPR3	HP:0002591	Polyphagia
3710	ITPR3	HP:0002522	Areflexia of lower limbs
3710	ITPR3	HP:0000006	Autosomal dominant inheritance
3710	ITPR3	HP:0410050	Decreased level of 1,5 anhydroglucitol in serum
3710	ITPR3	HP:0000103	Polyuria
3710	ITPR3	HP:0003393	Thenar muscle atrophy
3710	ITPR3	HP:0003431	Decreased motor nerve conduction velocity
3710	ITPR3	HP:0003596	Middle age onset
3710	ITPR3	HP:0002355	Difficulty walking
3710	ITPR3	HP:0009830	Peripheral neuropathy
3710	ITPR3	HP:0001959	Polydipsia
3710	ITPR3	HP:0001993	Ketoacidosis
3710	ITPR3	HP:0003074	Hyperglycemia
3710	ITPR3	HP:0011463	Childhood onset
3710	ITPR3	HP:0011462	Young adult onset
3710	ITPR3	HP:0000819	Diabetes mellitus
3710	ITPR3	HP:0002936	Distal sensory impairment
3710	ITPR3	HP:0002960	Autoimmunity
3710	ITPR3	HP:0001765	Hammertoe
3710	ITPR3	HP:0001761	Pes cavus
3712	IVD	HP:0001254	Lethargy
3712	IVD	HP:0001250	Seizure
3712	IVD	HP:0001263	Global developmental delay
3712	IVD	HP:0001259	Coma
3712	IVD	HP:0000007	Autosomal recessive inheritance
3712	IVD	HP:0002013	Vomiting
3712	IVD	HP:0005528	Bone marrow hypocellularity
3712	IVD	HP:0001944	Dehydration
3712	IVD	HP:0001942	Metabolic acidosis
3712	IVD	HP:0001993	Ketoacidosis
3712	IVD	HP:0003108	Hyperglycinuria
3712	IVD	HP:0011695	Cerebellar hemorrhage
3712	IVD	HP:0001882	Leukopenia
3712	IVD	HP:0001873	Thrombocytopenia
3712	IVD	HP:0001876	Pancytopenia
3714	JAG2	HP:0003712	Skeletal muscle hypertrophy
3714	JAG2	HP:0001256	Intellectual disability, mild
3714	JAG2	HP:0002505	Loss of ambulation
3714	JAG2	HP:0032341	Reduced forced vital capacity
3714	JAG2	HP:0000007	Autosomal recessive inheritance
3714	JAG2	HP:0002650	Scoliosis
3714	JAG2	HP:0008994	Proximal muscle weakness in lower limbs
3714	JAG2	HP:0008997	Proximal muscle weakness in upper limbs
3714	JAG2	HP:0008959	Distal upper limb muscle weakness
3714	JAG2	HP:0003306	Spinal rigidity
3714	JAG2	HP:0003458	EMG: myopathic abnormalities
3714	JAG2	HP:0003593	Infantile onset
3714	JAG2	HP:0003560	Muscular dystrophy
3714	JAG2	HP:0003557	Increased variability in muscle fiber diameter
3714	JAG2	HP:0003676	Progressive
3714	JAG2	HP:0003621	Juvenile onset
3714	JAG2	HP:0009053	Distal lower limb muscle weakness
3714	JAG2	HP:0003044	Shoulder flexion contracture
3714	JAG2	HP:0000750	Delayed speech and language development
3714	JAG2	HP:0000729	Autistic behavior
3714	JAG2	HP:0011463	Childhood onset
3714	JAG2	HP:0011462	Young adult onset
3714	JAG2	HP:0003236	Elevated circulating creatine kinase concentration
3714	JAG2	HP:0003202	Skeletal muscle atrophy
3714	JAG2	HP:0006380	Knee flexion contracture
3714	JAG2	HP:0002987	Elbow flexion contracture
3714	JAG2	HP:0001638	Cardiomyopathy
3714	JAG2	HP:0030319	Weakness of facial musculature
3714	JAG2	HP:0001716	Wolff-Parkinson-White syndrome
3714	JAG2	HP:0000467	Neck muscle weakness
3714	JAG2	HP:0001771	Achilles tendon contracture
3714	JAG2	HP:0000508	Ptosis
3716	JAK1	HP:0000006	Autosomal dominant inheritance
3716	JAK1	HP:0500093	Food allergy
3716	JAK1	HP:0000100	Nephrotic syndrome
3716	JAK1	HP:0001433	Hepatosplenomegaly
3716	JAK1	HP:0001407	Hepatic cysts
3716	JAK1	HP:0002099	Asthma
3716	JAK1	HP:0032021	Eosinophilic liver infiltration
3716	JAK1	HP:0001047	Atopic dermatitis
3716	JAK1	HP:0031813	Colonic eosinophilia
3716	JAK1	HP:0004322	Short stature
3716	JAK1	HP:0004429	Recurrent viral infections
3716	JAK1	HP:0000821	Hypothyroidism
3716	JAK1	HP:0001508	Failure to thrive
3716	JAK1	HP:0012578	Membranous nephropathy
3716	JAK1	HP:0001880	Eosinophilia
3717	JAK2	HP:0025142	Constitutional symptom
3717	JAK2	HP:0002488	Acute leukemia
3717	JAK2	HP:0001123	Visual field defect
3717	JAK2	HP:0003745	Sporadic
3717	JAK2	HP:0001297	Stroke
3717	JAK2	HP:0001279	Syncope
3717	JAK2	HP:0002586	Peritonitis
3717	JAK2	HP:0001250	Seizure
3717	JAK2	HP:0001260	Dysarthria
3717	JAK2	HP:0031020	Bone marrow hypercellularity
3717	JAK2	HP:0001394	Cirrhosis
3717	JAK2	HP:0001342	Cerebral hemorrhage
3717	JAK2	HP:0000007	Autosomal recessive inheritance
3717	JAK2	HP:0000006	Autosomal dominant inheritance
3717	JAK2	HP:0002641	Peripheral thrombosis
3717	JAK2	HP:0002639	Budd-Chiari syndrome
3717	JAK2	HP:0002637	Cerebral ischemia
3717	JAK2	HP:0012156	Hemophagocytosis
3717	JAK2	HP:0012143	Abnormal megakaryocyte morphology
3717	JAK2	HP:0025435	Increased circulating lactate dehydrogenase concentration
3717	JAK2	HP:0001428	Somatic mutation
3717	JAK2	HP:0001433	Hepatosplenomegaly
3717	JAK2	HP:0001409	Portal hypertension
3717	JAK2	HP:0001402	Hepatocellular carcinoma
3717	JAK2	HP:0002716	Lymphadenopathy
3717	JAK2	HP:0002024	Malabsorption
3717	JAK2	HP:0002027	Abdominal pain
3717	JAK2	HP:0002092	Pulmonary arterial hypertension
3717	JAK2	HP:0002093	Respiratory insufficiency
3717	JAK2	HP:0002040	Esophageal varix
3717	JAK2	HP:0002039	Anorexia
3717	JAK2	HP:0003388	Easy fatigability
3717	JAK2	HP:0100576	Amaurosis fugax
3717	JAK2	HP:0002140	Ischemic stroke
3717	JAK2	HP:0011875	Abnormal platelet morphology
3717	JAK2	HP:0003401	Paresthesia
3717	JAK2	HP:0003596	Middle age onset
3717	JAK2	HP:0002240	Hepatomegaly
3717	JAK2	HP:0002239	Gastrointestinal hemorrhage
3717	JAK2	HP:0003584	Late onset
3717	JAK2	HP:0003581	Adult onset
3717	JAK2	HP:0002204	Pulmonary embolism
3717	JAK2	HP:0100749	Chest pain
3717	JAK2	HP:0011974	Myelofibrosis
3717	JAK2	HP:0004808	Acute myeloid leukemia
3717	JAK2	HP:0001050	Plethora
3717	JAK2	HP:0001028	Hemangioma
3717	JAK2	HP:0002321	Vertigo
3717	JAK2	HP:0002315	Headache
3717	JAK2	HP:0002326	Transient ischemic attack
3717	JAK2	HP:0100659	Abnormal cerebral vascular morphology
3717	JAK2	HP:0001082	Cholecystitis
3717	JAK2	HP:0004936	Venous thrombosis
3717	JAK2	HP:0004950	Peripheral arterial stenosis
3717	JAK2	HP:0005513	Increased megakaryocyte count
3717	JAK2	HP:0005506	Chronic myelogenous leukemia
3717	JAK2	HP:0005547	Myeloproliferative disorder
3717	JAK2	HP:0005561	Abnormality of bone marrow cell morphology
3717	JAK2	HP:0001977	Abnormal thrombosis
3717	JAK2	HP:0001978	Extramedullary hematopoiesis
3717	JAK2	HP:0001974	Leukocytosis
3717	JAK2	HP:0001945	Fever
3717	JAK2	HP:0001907	Thromboembolism
3717	JAK2	HP:0001903	Anemia
3717	JAK2	HP:0001900	Increased hemoglobin
3717	JAK2	HP:0004326	Cachexia
3717	JAK2	HP:0004377	Hematological neoplasm
3717	JAK2	HP:0003010	Prolonged bleeding time
3717	JAK2	HP:0004447	Poikilocytosis
3717	JAK2	HP:0004420	Arterial thrombosis
3717	JAK2	HP:0004417	Intermittent claudication
3717	JAK2	HP:0000822	Hypertension
3717	JAK2	HP:0000980	Pallor
3717	JAK2	HP:0000979	Purpura
3717	JAK2	HP:0000975	Hyperhidrosis
3717	JAK2	HP:0000978	Bruising susceptibility
3717	JAK2	HP:0000989	Pruritus
3717	JAK2	HP:0000952	Jaundice
3717	JAK2	HP:0000967	Petechiae
3717	JAK2	HP:0030057	Autoimmune antibody positivity
3717	JAK2	HP:0031386	Increased micromegakaryocyte count
3717	JAK2	HP:0002829	Arthralgia
3717	JAK2	HP:0002875	Exertional dyspnea
3717	JAK2	HP:0000225	Gingival bleeding
3717	JAK2	HP:0001541	Ascites
3717	JAK2	HP:0002863	Myelodysplasia
3717	JAK2	HP:0031364	Ecchymosis
3717	JAK2	HP:0012378	Fatigue
3717	JAK2	HP:0005268	Miscarriage
3717	JAK2	HP:0005244	Gastrointestinal infarctions
3717	JAK2	HP:0005214	Intestinal obstruction
3717	JAK2	HP:0006554	Acute hepatic failure
3717	JAK2	HP:0002910	Elevated hepatic transaminase
3717	JAK2	HP:0000360	Tinnitus
3717	JAK2	HP:0001681	Angina pectoris
3717	JAK2	HP:0001658	Myocardial infarction
3717	JAK2	HP:0030157	Flank pain
3717	JAK2	HP:0011134	Low-grade fever
3717	JAK2	HP:0030242	Portal vein thrombosis
3717	JAK2	HP:0001744	Splenomegaly
3717	JAK2	HP:0025709	Intermediate young adult onset
3717	JAK2	HP:0000421	Epistaxis
3717	JAK2	HP:0001824	Weight loss
3717	JAK2	HP:0001892	Abnormal bleeding
3717	JAK2	HP:0001894	Thrombocytosis
3717	JAK2	HP:0001899	Increased hematocrit
3717	JAK2	HP:0001898	Increased red blood cell mass
3717	JAK2	HP:0001872	Abnormality of thrombocytes
3717	JAK2	HP:0001871	Abnormality of blood and blood-forming tissues
3717	JAK2	HP:0001873	Thrombocytopenia
3717	JAK2	HP:0001876	Pancytopenia
3718	JAK3	HP:0033581	Absent peripheral lymph nodes in presence of infection
3718	JAK3	HP:0001287	Meningitis
3718	JAK3	HP:0010976	B lymphocytopenia
3718	JAK3	HP:0000007	Autosomal recessive inheritance
3718	JAK3	HP:0000143	Rectovaginal fistula
3718	JAK3	HP:0002783	Recurrent lower respiratory tract infections
3718	JAK3	HP:0002788	Recurrent upper respiratory tract infections
3718	JAK3	HP:0001433	Hepatosplenomegaly
3718	JAK3	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
3718	JAK3	HP:0002028	Chronic diarrhea
3718	JAK3	HP:0002090	Pneumonia
3718	JAK3	HP:0004798	Recurrent infection of the gastrointestinal tract
3718	JAK3	HP:0011837	Partial IgA deficiency
3718	JAK3	HP:0003593	Infantile onset
3718	JAK3	HP:0002205	Recurrent respiratory infections
3718	JAK3	HP:0200039	Pustule
3718	JAK3	HP:0009098	Chronic oral candidiasis
3718	JAK3	HP:0001999	Abnormal facial shape
3718	JAK3	HP:0004315	Decreased circulating IgG level
3718	JAK3	HP:0004430	Severe combined immunodeficiency
3718	JAK3	HP:0004429	Recurrent viral infections
3718	JAK3	HP:0003139	Panhypogammaglobulinemia
3718	JAK3	HP:0040219	Absent natural killer cells
3718	JAK3	HP:0000988	Skin rash
3718	JAK3	HP:0000953	Hyperpigmentation of the skin
3718	JAK3	HP:0001531	Failure to thrive in infancy
3718	JAK3	HP:0001508	Failure to thrive
3718	JAK3	HP:0002850	Decreased circulating total IgM
3718	JAK3	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
3718	JAK3	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3
3718	JAK3	HP:0005214	Intestinal obstruction
3718	JAK3	HP:0006532	Recurrent pneumonia
3718	JAK3	HP:0000371	Acute otitis media
3718	JAK3	HP:0002965	Cutaneous anergy
3718	JAK3	HP:0005372	Abnormality of B cell physiology
3718	JAK3	HP:0005354	Lack of T cell function
3718	JAK3	HP:0000403	Recurrent otitis media
3718	JAK3	HP:0005403	T lymphocytopenia
3718	JAK3	HP:0005390	Recurrent opportunistic infections
3718	JAK3	HP:0001888	Lymphopenia
3720	JARID2	HP:0009890	High anterior hairline
3720	JARID2	HP:0001288	Gait disturbance
3720	JARID2	HP:0001250	Seizure
3720	JARID2	HP:0001252	Hypotonia
3720	JARID2	HP:0001249	Intellectual disability
3720	JARID2	HP:0001263	Global developmental delay
3720	JARID2	HP:0002558	Supernumerary nipple
3720	JARID2	HP:0001212	Prominent fingertip pads
3720	JARID2	HP:0001388	Joint laxity
3720	JARID2	HP:0000006	Autosomal dominant inheritance
3720	JARID2	HP:0002650	Scoliosis
3720	JARID2	HP:0000175	Cleft palate
3720	JARID2	HP:0410030	Cleft lip
3720	JARID2	HP:0004691	2-3 toe syndactyly
3720	JARID2	HP:0002002	Deep philtrum
3720	JARID2	HP:0002007	Frontal bossing
3720	JARID2	HP:0011800	Midface retrusion
3720	JARID2	HP:0002263	Exaggerated cupid's bow
3720	JARID2	HP:0007018	Attention deficit hyperactivity disorder
3720	JARID2	HP:0000664	Synophrys
3720	JARID2	HP:0000718	Aggressive behavior
3720	JARID2	HP:0000729	Autistic behavior
3720	JARID2	HP:0000709	Psychosis
3720	JARID2	HP:0009183	Joint contracture of the 5th finger
3720	JARID2	HP:0003186	Inverted nipples
3720	JARID2	HP:0045075	Sparse eyebrow
3720	JARID2	HP:0000954	Single transverse palmar crease
3720	JARID2	HP:0000956	Acanthosis nigricans
3720	JARID2	HP:0000286	Epicanthus
3720	JARID2	HP:0000278	Retrognathia
3720	JARID2	HP:0000256	Macrocephaly
3720	JARID2	HP:0000252	Microcephaly
3720	JARID2	HP:0000369	Low-set ears
3720	JARID2	HP:0000337	Broad forehead
3720	JARID2	HP:0000336	Prominent supraorbital ridges
3720	JARID2	HP:0000319	Smooth philtrum
3720	JARID2	HP:0000316	Hypertelorism
3720	JARID2	HP:0000322	Short philtrum
3720	JARID2	HP:0000325	Triangular face
3720	JARID2	HP:0000307	Pointed chin
3720	JARID2	HP:0005280	Depressed nasal bridge
3720	JARID2	HP:0012471	Thick vermilion border
3720	JARID2	HP:0000494	Downslanted palpebral fissures
3720	JARID2	HP:0000490	Deeply set eye
3720	JARID2	HP:0001763	Pes planus
3720	JARID2	HP:0000414	Bulbous nose
3720	JARID2	HP:0000411	Protruding ear
3720	JARID2	HP:0000431	Wide nasal bridge
3720	JARID2	HP:0000508	Ptosis
3720	JARID2	HP:0000582	Upslanted palpebral fissure
3720	JARID2	HP:0011220	Prominent forehead
3720	JARID2	HP:0000574	Thick eyebrow
3720	JARID2	HP:0000568	Microphthalmia
3728	JUP	HP:0010872	T-wave inversion
3728	JUP	HP:0001279	Syncope
3728	JUP	HP:0001233	2-3 finger syndactyly
3728	JUP	HP:0007447	Diffuse palmoplantar hyperkeratosis
3728	JUP	HP:0006097	3-4 finger syndactyly
3728	JUP	HP:0031193	Abnormal morphology of right ventricular trabeculae
3728	JUP	HP:0000007	Autosomal recessive inheritance
3728	JUP	HP:0000006	Autosomal dominant inheritance
3728	JUP	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology
3728	JUP	HP:0000175	Cleft palate
3728	JUP	HP:0031274	Hypovolemic shock
3728	JUP	HP:0011712	Right bundle branch block
3728	JUP	HP:0004756	Ventricular tachycardia
3728	JUP	HP:0004751	Paroxysmal ventricular tachycardia
3728	JUP	HP:0003577	Congenital onset
3728	JUP	HP:0003581	Adult onset
3728	JUP	HP:0002223	Absent eyebrow
3728	JUP	HP:0002224	Woolly hair
3728	JUP	HP:0002231	Sparse body hair
3728	JUP	HP:0002212	Curly hair
3728	JUP	HP:0002209	Sparse scalp hair
3728	JUP	HP:0010719	Abnormality of hair texture
3728	JUP	HP:0008404	Nail dystrophy
3728	JUP	HP:0010705	4-5 finger syndactyly
3728	JUP	HP:0100792	Acantholysis
3728	JUP	HP:0002298	Absent hair
3728	JUP	HP:0008392	Subungual hyperkeratosis
3728	JUP	HP:0001030	Fragile skin
3728	JUP	HP:0002321	Vertigo
3728	JUP	HP:0025092	Epidermal acanthosis
3728	JUP	HP:0004209	Clinodactyly of the 5th finger
3728	JUP	HP:0005597	Congenital alopecia totalis
3728	JUP	HP:0001962	Palpitations
3728	JUP	HP:0000695	Natal tooth
3728	JUP	HP:0004308	Ventricular arrhythmia
3728	JUP	HP:0000924	Abnormality of the skeletal system
3728	JUP	HP:0045075	Sparse eyebrow
3728	JUP	HP:0000975	Hyperhidrosis
3728	JUP	HP:0000982	Palmoplantar keratoderma
3728	JUP	HP:0000956	Acanthosis nigricans
3728	JUP	HP:0000962	Hyperkeratosis
3728	JUP	HP:0008066	Abnormal blistering of the skin
3728	JUP	HP:0011675	Arrhythmia
3728	JUP	HP:0011663	Right ventricular cardiomyopathy
3728	JUP	HP:0002878	Respiratory failure
3728	JUP	HP:0001562	Oligohydramnios
3728	JUP	HP:0000204	Cleft upper lip
3728	JUP	HP:0001511	Intrauterine growth retardation
3728	JUP	HP:0011039	Abnormal helix morphology
3728	JUP	HP:0000377	Abnormal pinna morphology
3728	JUP	HP:0031538	Abnormal dermoepidermal junction morphology
3728	JUP	HP:0001699	Sudden death
3728	JUP	HP:0001645	Sudden cardiac death
3728	JUP	HP:0001644	Dilated cardiomyopathy
3728	JUP	HP:0001627	Abnormal heart morphology
3728	JUP	HP:0001640	Cardiomegaly
3728	JUP	HP:0001635	Congestive heart failure
3728	JUP	HP:0001638	Cardiomyopathy
3728	JUP	HP:0006682	Premature ventricular contraction
3728	JUP	HP:0006670	Impaired myocardial contractility
3728	JUP	HP:0006677	Prolonged QRS complex
3728	JUP	HP:0001836	Camptodactyly of toe
3728	JUP	HP:0001806	Onycholysis
3728	JUP	HP:0001802	Absent toenail
3728	JUP	HP:0001817	Absent fingernail
3728	JUP	HP:0000561	Absent eyelashes
3730	ANOS1	HP:0003782	Eunuchoid habitus
3730	ANOS1	HP:0001288	Gait disturbance
3730	ANOS1	HP:0001250	Seizure
3730	ANOS1	HP:0001252	Hypotonia
3730	ANOS1	HP:0001251	Ataxia
3730	ANOS1	HP:0001260	Dysarthria
3730	ANOS1	HP:0008734	Decreased testicular size
3730	ANOS1	HP:0008736	Hypoplasia of penis
3730	ANOS1	HP:0000044	Hypogonadotropic hypogonadism
3730	ANOS1	HP:0000046	Small scrotum
3730	ANOS1	HP:0000054	Micropenis
3730	ANOS1	HP:0000029	Testicular atrophy
3730	ANOS1	HP:0000028	Cryptorchidism
3730	ANOS1	HP:0000027	Azoospermia
3730	ANOS1	HP:0001324	Muscle weakness
3730	ANOS1	HP:0001341	Olfactory lobe agenesis
3730	ANOS1	HP:0000008	Abnormal morphology of female internal genitalia
3730	ANOS1	HP:0001335	Bimanual synkinesia
3730	ANOS1	HP:0001337	Tremor
3730	ANOS1	HP:0002652	Skeletal dysplasia
3730	ANOS1	HP:0000175	Cleft palate
3730	ANOS1	HP:0000144	Decreased fertility
3730	ANOS1	HP:0000122	Unilateral renal agenesis
3730	ANOS1	HP:0002757	Recurrent fractures
3730	ANOS1	HP:0000104	Renal agenesis
3730	ANOS1	HP:0002750	Delayed skeletal maturation
3730	ANOS1	HP:0001419	X-linked recessive inheritance
3730	ANOS1	HP:0010550	Paraplegia
3730	ANOS1	HP:0003593	Infantile onset
3730	ANOS1	HP:0003577	Congenital onset
3730	ANOS1	HP:0002225	Sparse pubic hair
3730	ANOS1	HP:0009804	Tooth agenesis
3730	ANOS1	HP:0100639	Erectile dysfunction
3730	ANOS1	HP:0000639	Nystagmus
3730	ANOS1	HP:0030680	Abnormality of cardiovascular system morphology
3730	ANOS1	HP:0004349	Reduced bone mineral density
3730	ANOS1	HP:0000771	Gynecomastia
3730	ANOS1	HP:0000786	Primary amenorrhea
3730	ANOS1	HP:0004409	Hyposmia
3730	ANOS1	HP:0003187	Breast hypoplasia
3730	ANOS1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
3730	ANOS1	HP:0000830	Anterior hypopituitarism
3730	ANOS1	HP:0000823	Delayed puberty
3730	ANOS1	HP:0040171	Decreased serum testosterone concentration
3730	ANOS1	HP:0008064	Ichthyosis
3730	ANOS1	HP:0000218	High palate
3730	ANOS1	HP:0030016	Dyspareunia
3730	ANOS1	HP:0001513	Obesity
3730	ANOS1	HP:0001608	Abnormality of the voice
3730	ANOS1	HP:0002929	Leydig cell insensitivity to gonadotropin
3730	ANOS1	HP:0000324	Facial asymmetry
3730	ANOS1	HP:0000407	Sensorineural hearing impairment
3730	ANOS1	HP:0000458	Anosmia
3730	ANOS1	HP:0001763	Pes planus
3730	ANOS1	HP:0001761	Pes cavus
3730	ANOS1	HP:0000508	Ptosis
3730	ANOS1	HP:0000505	Visual impairment
3730	ANOS1	HP:0030344	Decreased circulating luteinizing hormone level
3730	ANOS1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
3730	ANOS1	HP:0000551	Color vision defect
3735	KARS1	HP:0007256	Abnormal pyramidal sign
3735	KARS1	HP:0002415	Leukodystrophy
3735	KARS1	HP:0001276	Hypertonia
3735	KARS1	HP:0001270	Motor delay
3735	KARS1	HP:0001268	Mental deterioration
3735	KARS1	HP:0001284	Areflexia
3735	KARS1	HP:0001250	Seizure
3735	KARS1	HP:0001252	Hypotonia
3735	KARS1	HP:0001251	Ataxia
3735	KARS1	HP:0001265	Hyporeflexia
3735	KARS1	HP:0001263	Global developmental delay
3735	KARS1	HP:0002514	Cerebral calcification
3735	KARS1	HP:0002510	Spastic tetraplegia
3735	KARS1	HP:0003819	Death in childhood
3735	KARS1	HP:0000083	Renal insufficiency
3735	KARS1	HP:0000047	Hypospadias
3735	KARS1	HP:0001332	Dystonia
3735	KARS1	HP:0001344	Absent speech
3735	KARS1	HP:0000007	Autosomal recessive inheritance
3735	KARS1	HP:0000160	Narrow mouth
3735	KARS1	HP:0008972	Decreased activity of mitochondrial respiratory chain
3735	KARS1	HP:0002750	Delayed skeletal maturation
3735	KARS1	HP:0003348	Hyperalaninemia
3735	KARS1	HP:0002013	Vomiting
3735	KARS1	HP:0100543	Cognitive impairment
3735	KARS1	HP:0003376	Steppage gait
3735	KARS1	HP:0003477	Peripheral axonal neuropathy
3735	KARS1	HP:0002151	Increased serum lactate
3735	KARS1	HP:0009588	Vestibular schwannoma
3735	KARS1	HP:0003577	Congenital onset
3735	KARS1	HP:0100716	Self-injurious behavior
3735	KARS1	HP:0003542	Increased serum pyruvate
3735	KARS1	HP:0033383	Decreased compound muscle action potential amplitude
3735	KARS1	HP:0004840	Hypochromic microcytic anemia
3735	KARS1	HP:0002376	Developmental regression
3735	KARS1	HP:0002344	Progressive neurologic deterioration
3735	KARS1	HP:0002352	Leukoencephalopathy
3735	KARS1	HP:0008527	Congenital sensorineural hearing impairment
3735	KARS1	HP:0010818	Generalized tonic seizure
3735	KARS1	HP:0007103	Hypointensity of cerebral white matter on MRI
3735	KARS1	HP:0002304	Akinesia
3735	KARS1	HP:0000639	Nystagmus
3735	KARS1	HP:0001946	Ketosis
3735	KARS1	HP:0001903	Anemia
3735	KARS1	HP:0011344	Severe global developmental delay
3735	KARS1	HP:0009027	Foot dorsiflexor weakness
3735	KARS1	HP:0031936	Delayed ability to walk
3735	KARS1	HP:0012707	Elevated brain lactate level by MRS
3735	KARS1	HP:0011476	Profound sensorineural hearing impairment
3735	KARS1	HP:0000821	Hypothyroidism
3735	KARS1	HP:0040209	Decreased CSF biopterin level
3735	KARS1	HP:0000252	Microcephaly
3735	KARS1	HP:0001508	Failure to thrive
3735	KARS1	HP:0001518	Small for gestational age
3735	KARS1	HP:0001510	Growth delay
3735	KARS1	HP:0002936	Distal sensory impairment
3735	KARS1	HP:0000365	Hearing impairment
3735	KARS1	HP:0000343	Long philtrum
3735	KARS1	HP:0000407	Sensorineural hearing impairment
3735	KARS1	HP:0001761	Pes cavus
3735	KARS1	HP:0000529	Progressive visual loss
3735	KARS1	HP:0012595	Mild proteinuria
3736	KCNA1	HP:0001188	Hand clenching
3736	KCNA1	HP:0001155	Abnormality of the hand
3736	KCNA1	HP:0002486	Myotonia
3736	KCNA1	HP:0010851	EEG with burst suppression
3736	KCNA1	HP:0010850	EEG with spike-wave complexes
3736	KCNA1	HP:0002421	Poor head control
3736	KCNA1	HP:0002411	Myokymia
3736	KCNA1	HP:0001276	Hypertonia
3736	KCNA1	HP:0001272	Cerebellar atrophy
3736	KCNA1	HP:0001270	Motor delay
3736	KCNA1	HP:0001250	Seizure
3736	KCNA1	HP:0001251	Ataxia
3736	KCNA1	HP:0001249	Intellectual disability
3736	KCNA1	HP:0001266	Choreoathetosis
3736	KCNA1	HP:0001260	Dysarthria
3736	KCNA1	HP:0001263	Global developmental delay
3736	KCNA1	HP:0001257	Spasticity
3736	KCNA1	HP:0007359	Focal-onset seizure
3736	KCNA1	HP:0002521	Hypsarrhythmia
3736	KCNA1	HP:0003828	Variable expressivity
3736	KCNA1	HP:0002506	Diffuse cerebral atrophy
3736	KCNA1	HP:0003803	Type 1 muscle fiber predominance
3736	KCNA1	HP:0000070	Ureterocele
3736	KCNA1	HP:0000054	Micropenis
3736	KCNA1	HP:0001350	Slurred speech
3736	KCNA1	HP:0001347	Hyperreflexia
3736	KCNA1	HP:0001332	Dystonia
3736	KCNA1	HP:0001328	Specific learning disability
3736	KCNA1	HP:0001337	Tremor
3736	KCNA1	HP:0000006	Autosomal dominant inheritance
3736	KCNA1	HP:0001336	Myoclonus
3736	KCNA1	HP:0001302	Pachygyria
3736	KCNA1	HP:0002650	Scoliosis
3736	KCNA1	HP:0000175	Cleft palate
3736	KCNA1	HP:0008981	Calf muscle hypertrophy
3736	KCNA1	HP:0008947	Infantile muscular hypotonia
3736	KCNA1	HP:0000110	Renal dysplasia
3736	KCNA1	HP:0002751	Kyphoscoliosis
3736	KCNA1	HP:0002018	Nausea
3736	KCNA1	HP:0002098	Respiratory distress
3736	KCNA1	HP:0002069	Bilateral tonic-clonic seizure
3736	KCNA1	HP:0003394	Muscle spasm
3736	KCNA1	HP:0002064	Spastic gait
3736	KCNA1	HP:0002079	Hypoplasia of the corpus callosum
3736	KCNA1	HP:0002076	Migraine
3736	KCNA1	HP:0002072	Chorea
3736	KCNA1	HP:0003487	Babinski sign
3736	KCNA1	HP:0002121	Generalized non-motor (absence) seizure
3736	KCNA1	HP:0002131	Episodic ataxia
3736	KCNA1	HP:0003457	EMG abnormality
3736	KCNA1	HP:0002172	Postural instability
3736	KCNA1	HP:0100716	Self-injurious behavior
3736	KCNA1	HP:0003552	Muscle stiffness
3736	KCNA1	HP:0002360	Sleep disturbance
3736	KCNA1	HP:0002376	Developmental regression
3736	KCNA1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
3736	KCNA1	HP:0002370	Poor coordination
3736	KCNA1	HP:0002356	Writer's cramp
3736	KCNA1	HP:0002353	EEG abnormality
3736	KCNA1	HP:0002321	Vertigo
3736	KCNA1	HP:0002315	Headache
3736	KCNA1	HP:0007204	Diffuse white matter abnormalities
3736	KCNA1	HP:0100660	Dyskinesia
3736	KCNA1	HP:0010819	Atonic seizure
3736	KCNA1	HP:0010818	Generalized tonic seizure
3736	KCNA1	HP:0002311	Incoordination
3736	KCNA1	HP:0002312	Clumsiness
3736	KCNA1	HP:0002305	Athetosis
3736	KCNA1	HP:0003621	Juvenile onset
3736	KCNA1	HP:0000651	Diplopia
3736	KCNA1	HP:0000622	Blurred vision
3736	KCNA1	HP:0004305	Involuntary movements
3736	KCNA1	HP:0003011	Abnormality of the musculature
3736	KCNA1	HP:0000752	Hyperactivity
3736	KCNA1	HP:0100022	Abnormality of movement
3736	KCNA1	HP:0000750	Delayed speech and language development
3736	KCNA1	HP:0000729	Autistic behavior
3736	KCNA1	HP:0010174	Broad phalanx of the toes
3736	KCNA1	HP:0000776	Congenital diaphragmatic hernia
3736	KCNA1	HP:0000826	Precocious puberty
3736	KCNA1	HP:0003236	Elevated circulating creatine kinase concentration
3736	KCNA1	HP:0000975	Hyperhidrosis
3736	KCNA1	HP:0009381	Short finger
3736	KCNA1	HP:0000252	Microcephaly
3736	KCNA1	HP:0001537	Umbilical hernia
3736	KCNA1	HP:0001508	Failure to thrive
3736	KCNA1	HP:0001500	Broad finger
3736	KCNA1	HP:0030051	Tip-toe gait
3736	KCNA1	HP:0000340	Sloping forehead
3736	KCNA1	HP:0001629	Ventricular septal defect
3736	KCNA1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
3736	KCNA1	HP:0011169	Generalized clonic seizure
3736	KCNA1	HP:0011157	Focal sensory seizure
3736	KCNA1	HP:0005280	Depressed nasal bridge
3736	KCNA1	HP:0000486	Strabismus
3736	KCNA1	HP:0012469	Infantile spasms
3736	KCNA1	HP:0000463	Anteverted nares
3736	KCNA1	HP:0012448	Delayed myelination
3736	KCNA1	HP:0005461	Craniofacial disproportion
3736	KCNA1	HP:0012554	Absent thumbnail
3737	KCNA2	HP:0002421	Poor head control
3737	KCNA2	HP:0001298	Encephalopathy
3737	KCNA2	HP:0001290	Generalized hypotonia
3737	KCNA2	HP:0001273	Abnormal corpus callosum morphology
3737	KCNA2	HP:0001268	Mental deterioration
3737	KCNA2	HP:0001250	Seizure
3737	KCNA2	HP:0001252	Hypotonia
3737	KCNA2	HP:0001251	Ataxia
3737	KCNA2	HP:0001249	Intellectual disability
3737	KCNA2	HP:0001265	Hyporeflexia
3737	KCNA2	HP:0001263	Global developmental delay
3737	KCNA2	HP:0001257	Spasticity
3737	KCNA2	HP:0002521	Hypsarrhythmia
3737	KCNA2	HP:0002509	Limb hypertonia
3737	KCNA2	HP:0001344	Absent speech
3737	KCNA2	HP:0001337	Tremor
3737	KCNA2	HP:0000006	Autosomal dominant inheritance
3737	KCNA2	HP:0001336	Myoclonus
3737	KCNA2	HP:0001315	Reduced tendon reflexes
3737	KCNA2	HP:0002020	Gastroesophageal reflux
3737	KCNA2	HP:0002063	Rigidity
3737	KCNA2	HP:0002059	Cerebral atrophy
3737	KCNA2	HP:0002133	Status epilepticus
3737	KCNA2	HP:0003593	Infantile onset
3737	KCNA2	HP:0100710	Impulsivity
3737	KCNA2	HP:0200134	Epileptic encephalopathy
3737	KCNA2	HP:0007018	Attention deficit hyperactivity disorder
3737	KCNA2	HP:0011968	Feeding difficulties
3737	KCNA2	HP:0002376	Developmental regression
3737	KCNA2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
3737	KCNA2	HP:0002355	Difficulty walking
3737	KCNA2	HP:0002317	Unsteady gait
3737	KCNA2	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
3737	KCNA2	HP:0010844	EEG with multifocal slow activity
3737	KCNA2	HP:0100660	Dyskinesia
3737	KCNA2	HP:0000639	Nystagmus
3737	KCNA2	HP:0000648	Optic atrophy
3737	KCNA2	HP:0000668	Hypodontia
3737	KCNA2	HP:0004322	Short stature
3737	KCNA2	HP:0004305	Involuntary movements
3737	KCNA2	HP:0000750	Delayed speech and language development
3737	KCNA2	HP:0000717	Autism
3737	KCNA2	HP:0000708	Atypical behavior
3737	KCNA2	HP:0011463	Childhood onset
3737	KCNA2	HP:0011443	Abnormality of coordination
3737	KCNA2	HP:0000252	Microcephaly
3737	KCNA2	HP:0001558	Decreased fetal movement
3737	KCNA2	HP:0001508	Failure to thrive
3737	KCNA2	HP:0000348	High forehead
3737	KCNA2	HP:0032794	Myoclonic seizure
3737	KCNA2	HP:0000494	Downslanted palpebral fissures
3737	KCNA2	HP:0012444	Brain atrophy
3737	KCNA2	HP:0012447	Abnormal myelination
3737	KCNA2	HP:0000508	Ptosis
3737	KCNA2	HP:0000504	Abnormality of vision
3737	KCNA2	HP:0012547	Abnormal involuntary eye movements
3737	KCNA2	HP:0000546	Retinal degeneration
3739	KCNA4	HP:0001276	Hypertonia
3739	KCNA4	HP:0001249	Intellectual disability
3739	KCNA4	HP:0001260	Dysarthria
3739	KCNA4	HP:0001332	Dystonia
3739	KCNA4	HP:0000007	Autosomal recessive inheritance
3739	KCNA4	HP:0002064	Spastic gait
3739	KCNA4	HP:0003487	Babinski sign
3739	KCNA4	HP:0002194	Delayed gross motor development
3739	KCNA4	HP:0003577	Congenital onset
3739	KCNA4	HP:0007018	Attention deficit hyperactivity disorder
3739	KCNA4	HP:0002396	Cogwheel rigidity
3739	KCNA4	HP:0004325	Decreased body weight
3739	KCNA4	HP:0004322	Short stature
3739	KCNA4	HP:0000750	Delayed speech and language development
3739	KCNA4	HP:0000252	Microcephaly
3739	KCNA4	HP:0001510	Growth delay
3739	KCNA4	HP:0000519	Developmental cataract
3739	KCNA4	HP:0000501	Glaucoma
3741	KCNA5	HP:0000006	Autosomal dominant inheritance
3741	KCNA5	HP:0004757	Paroxysmal atrial fibrillation
3741	KCNA5	HP:0004754	Permanent atrial fibrillation
3741	KCNA5	HP:0003596	Middle age onset
3741	KCNA5	HP:0001962	Palpitations
3741	KCNA5	HP:0012248	Prolonged PR interval
3741	KCNA5	HP:0005184	Prolonged QTc interval
3741	KCNA5	HP:0001688	Sinus bradycardia
3741	KCNA5	HP:0006699	Premature atrial contractions
3741	KCNA5	HP:0025710	Late young adult onset
3741	KCNA5	HP:0025708	Early young adult onset
3745	KCNB1	HP:0007270	Atypical absence seizure
3745	KCNB1	HP:0002421	Poor head control
3745	KCNB1	HP:0001298	Encephalopathy
3745	KCNB1	HP:0001290	Generalized hypotonia
3745	KCNB1	HP:0001273	Abnormal corpus callosum morphology
3745	KCNB1	HP:0001268	Mental deterioration
3745	KCNB1	HP:0001250	Seizure
3745	KCNB1	HP:0001252	Hypotonia
3745	KCNB1	HP:0001251	Ataxia
3745	KCNB1	HP:0001249	Intellectual disability
3745	KCNB1	HP:0001265	Hyporeflexia
3745	KCNB1	HP:0001263	Global developmental delay
3745	KCNB1	HP:0001257	Spasticity
3745	KCNB1	HP:0007334	Bilateral tonic-clonic seizure with focal onset
3745	KCNB1	HP:0002521	Hypsarrhythmia
3745	KCNB1	HP:0002509	Limb hypertonia
3745	KCNB1	HP:0001344	Absent speech
3745	KCNB1	HP:0001337	Tremor
3745	KCNB1	HP:0000006	Autosomal dominant inheritance
3745	KCNB1	HP:0001336	Myoclonus
3745	KCNB1	HP:0001315	Reduced tendon reflexes
3745	KCNB1	HP:0012171	Stereotypical hand wringing
3745	KCNB1	HP:0002020	Gastroesophageal reflux
3745	KCNB1	HP:0002069	Bilateral tonic-clonic seizure
3745	KCNB1	HP:0002063	Rigidity
3745	KCNB1	HP:0002059	Cerebral atrophy
3745	KCNB1	HP:0002133	Status epilepticus
3745	KCNB1	HP:0003593	Infantile onset
3745	KCNB1	HP:0100710	Impulsivity
3745	KCNB1	HP:0200134	Epileptic encephalopathy
3745	KCNB1	HP:0007018	Attention deficit hyperactivity disorder
3745	KCNB1	HP:0011968	Feeding difficulties
3745	KCNB1	HP:0002384	Focal impaired awareness seizure
3745	KCNB1	HP:0002376	Developmental regression
3745	KCNB1	HP:0002355	Difficulty walking
3745	KCNB1	HP:0002317	Unsteady gait
3745	KCNB1	HP:0010844	EEG with multifocal slow activity
3745	KCNB1	HP:0100660	Dyskinesia
3745	KCNB1	HP:0010819	Atonic seizure
3745	KCNB1	HP:0003623	Neonatal onset
3745	KCNB1	HP:0000639	Nystagmus
3745	KCNB1	HP:0000648	Optic atrophy
3745	KCNB1	HP:0000668	Hypodontia
3745	KCNB1	HP:0004322	Short stature
3745	KCNB1	HP:0004305	Involuntary movements
3745	KCNB1	HP:0000750	Delayed speech and language development
3745	KCNB1	HP:0000717	Autism
3745	KCNB1	HP:0000708	Atypical behavior
3745	KCNB1	HP:0011463	Childhood onset
3745	KCNB1	HP:0011443	Abnormality of coordination
3745	KCNB1	HP:0000252	Microcephaly
3745	KCNB1	HP:0001558	Decreased fetal movement
3745	KCNB1	HP:0001508	Failure to thrive
3745	KCNB1	HP:0000348	High forehead
3745	KCNB1	HP:0012469	Infantile spasms
3745	KCNB1	HP:0000494	Downslanted palpebral fissures
3745	KCNB1	HP:0012444	Brain atrophy
3745	KCNB1	HP:0012447	Abnormal myelination
3745	KCNB1	HP:0000508	Ptosis
3745	KCNB1	HP:0000504	Abnormality of vision
3745	KCNB1	HP:0012547	Abnormal involuntary eye movements
3745	KCNB1	HP:0000546	Retinal degeneration
3746	KCNC1	HP:0001272	Cerebellar atrophy
3746	KCNC1	HP:0001268	Mental deterioration
3746	KCNC1	HP:0001251	Ataxia
3746	KCNC1	HP:0001337	Tremor
3746	KCNC1	HP:0000006	Autosomal dominant inheritance
3746	KCNC1	HP:0001336	Myoclonus
3746	KCNC1	HP:0002069	Bilateral tonic-clonic seizure
3746	KCNC1	HP:0003676	Progressive
3746	KCNC1	HP:0003621	Juvenile onset
3746	KCNC1	HP:0011463	Childhood onset
3746	KCNC1	HP:0032794	Myoclonic seizure
3746	KCNC1	HP:0011198	EEG with generalized epileptiform discharges
3747	KCNC2	HP:0010864	Intellectual disability, severe
3747	KCNC2	HP:0010851	EEG with burst suppression
3747	KCNC2	HP:0002421	Poor head control
3747	KCNC2	HP:0001252	Hypotonia
3747	KCNC2	HP:0001251	Ataxia
3747	KCNC2	HP:0001249	Intellectual disability
3747	KCNC2	HP:0002521	Hypsarrhythmia
3747	KCNC2	HP:0002510	Spastic tetraplegia
3747	KCNC2	HP:0001344	Absent speech
3747	KCNC2	HP:0000006	Autosomal dominant inheritance
3747	KCNC2	HP:0002069	Bilateral tonic-clonic seizure
3747	KCNC2	HP:0002121	Generalized non-motor (absence) seizure
3747	KCNC2	HP:0002188	Delayed CNS myelination
3747	KCNC2	HP:0002179	Opisthotonus
3747	KCNC2	HP:0003593	Infantile onset
3747	KCNC2	HP:0100702	Arachnoid cyst
3747	KCNC2	HP:0200134	Epileptic encephalopathy
3747	KCNC2	HP:0011968	Feeding difficulties
3747	KCNC2	HP:0002384	Focal impaired awareness seizure
3747	KCNC2	HP:0002381	Aphasia
3747	KCNC2	HP:0002392	EEG with polyspike wave complexes
3747	KCNC2	HP:0025097	Eyelid myoclonus
3747	KCNC2	HP:0010819	Atonic seizure
3747	KCNC2	HP:0003623	Neonatal onset
3747	KCNC2	HP:0002307	Drooling
3747	KCNC2	HP:0011344	Severe global developmental delay
3747	KCNC2	HP:0000752	Hyperactivity
3747	KCNC2	HP:0000729	Autistic behavior
3747	KCNC2	HP:0000256	Macrocephaly
3747	KCNC2	HP:0032670	Tonic status epilepticus
3747	KCNC2	HP:0000211	Trismus
3747	KCNC2	HP:0011097	Epileptic spasm
3747	KCNC2	HP:0032792	Tonic seizure
3747	KCNC2	HP:0032794	Myoclonic seizure
3747	KCNC2	HP:0031491	Continuous spike and waves during slow sleep
3748	KCNC3	HP:0007256	Abnormal pyramidal sign
3748	KCNC3	HP:0002406	Limb dysmetria
3748	KCNC3	HP:0001290	Generalized hypotonia
3748	KCNC3	HP:0001272	Cerebellar atrophy
3748	KCNC3	HP:0001270	Motor delay
3748	KCNC3	HP:0001256	Intellectual disability, mild
3748	KCNC3	HP:0001250	Seizure
3748	KCNC3	HP:0001252	Hypotonia
3748	KCNC3	HP:0001249	Intellectual disability
3748	KCNC3	HP:0001260	Dysarthria
3748	KCNC3	HP:0001263	Global developmental delay
3748	KCNC3	HP:0001257	Spasticity
3748	KCNC3	HP:0025331	Upgaze palsy
3748	KCNC3	HP:0000020	Urinary incontinence
3748	KCNC3	HP:0001347	Hyperreflexia
3748	KCNC3	HP:0000012	Urinary urgency
3748	KCNC3	HP:0000006	Autosomal dominant inheritance
3748	KCNC3	HP:0001336	Myoclonus
3748	KCNC3	HP:0002015	Dysphagia
3748	KCNC3	HP:0100543	Cognitive impairment
3748	KCNC3	HP:0002067	Bradykinesia
3748	KCNC3	HP:0002066	Gait ataxia
3748	KCNC3	HP:0002062	Morphological abnormality of the pyramidal tract
3748	KCNC3	HP:0002073	Progressive cerebellar ataxia
3748	KCNC3	HP:0002070	Limb ataxia
3748	KCNC3	HP:0002172	Postural instability
3748	KCNC3	HP:0003596	Middle age onset
3748	KCNC3	HP:0002355	Difficulty walking
3748	KCNC3	HP:0003677	Slowly progressive
3748	KCNC3	HP:0010794	Impaired visuospatial constructive cognition
3748	KCNC3	HP:0002312	Clumsiness
3748	KCNC3	HP:0006801	Hyperactive deep tendon reflexes
3748	KCNC3	HP:0006886	Impaired distal vibration sensation
3748	KCNC3	HP:0000639	Nystagmus
3748	KCNC3	HP:0000648	Optic atrophy
3748	KCNC3	HP:0009046	Difficulty running
3748	KCNC3	HP:0001999	Abnormal facial shape
3748	KCNC3	HP:0004322	Short stature
3748	KCNC3	HP:0011462	Young adult onset
3748	KCNC3	HP:0008003	Jerky ocular pursuit movements
3748	KCNC3	HP:0030187	Titubation
3748	KCNC3	HP:0000365	Hearing impairment
3748	KCNC3	HP:0000473	Torticollis
3748	KCNC3	HP:0000543	Optic disc pallor
3752	KCND3	HP:0001152	Saccadic smooth pursuit
3752	KCND3	HP:0001272	Cerebellar atrophy
3752	KCND3	HP:0001279	Syncope
3752	KCND3	HP:0001251	Ataxia
3752	KCND3	HP:0001265	Hyporeflexia
3752	KCND3	HP:0001260	Dysarthria
3752	KCND3	HP:0000020	Urinary incontinence
3752	KCND3	HP:0001350	Slurred speech
3752	KCND3	HP:0001347	Hyperreflexia
3752	KCND3	HP:0000006	Autosomal dominant inheritance
3752	KCND3	HP:0001336	Myoclonus
3752	KCND3	HP:0002015	Dysphagia
3752	KCND3	HP:0100543	Cognitive impairment
3752	KCND3	HP:0002066	Gait ataxia
3752	KCND3	HP:0002078	Truncal ataxia
3752	KCND3	HP:0002073	Progressive cerebellar ataxia
3752	KCND3	HP:0002070	Limb ataxia
3752	KCND3	HP:0011715	Trifascicular block
3752	KCND3	HP:0011712	Right bundle branch block
3752	KCND3	HP:0011704	Sick sinus syndrome
3752	KCND3	HP:0011705	First degree atrioventricular block
3752	KCND3	HP:0002136	Broad-based gait
3752	KCND3	HP:0004755	Supraventricular tachycardia
3752	KCND3	HP:0004751	Paroxysmal ventricular tachycardia
3752	KCND3	HP:0002174	Postural tremor
3752	KCND3	HP:0002172	Postural instability
3752	KCND3	HP:0003596	Middle age onset
3752	KCND3	HP:0003584	Late onset
3752	KCND3	HP:0002396	Cogwheel rigidity
3752	KCND3	HP:0002370	Poor coordination
3752	KCND3	HP:0002355	Difficulty walking
3752	KCND3	HP:0003677	Slowly progressive
3752	KCND3	HP:0003621	Juvenile onset
3752	KCND3	HP:0000639	Nystagmus
3752	KCND3	HP:0001962	Palpitations
3752	KCND3	HP:0000651	Diplopia
3752	KCND3	HP:0000602	Ophthalmoplegia
3752	KCND3	HP:0031972	Presyncope
3752	KCND3	HP:0004308	Ventricular arrhythmia
3752	KCND3	HP:0006938	Impaired vibration sensation at ankles
3752	KCND3	HP:0011462	Young adult onset
3752	KCND3	HP:0012251	ST segment elevation
3752	KCND3	HP:0007772	Impaired smooth pursuit
3752	KCND3	HP:0001695	Cardiac arrest
3752	KCND3	HP:0001649	Tachycardia
3752	KCND3	HP:0001663	Ventricular fibrillation
3752	KCND3	HP:0001657	Prolonged QT interval
3752	KCND3	HP:0007944	Intermittent microsaccadic pursuits
3752	KCND3	HP:0007979	Gaze-evoked horizontal nystagmus
3753	KCNE1	HP:0008619	Bilateral sensorineural hearing impairment
3753	KCNE1	HP:0001197	Abnormality of prenatal development or birth
3753	KCNE1	HP:0001279	Syncope
3753	KCNE1	HP:0001250	Seizure
3753	KCNE1	HP:0000007	Autosomal recessive inheritance
3753	KCNE1	HP:0000006	Autosomal dominant inheritance
3753	KCNE1	HP:0500018	Abnormal cardiac exercise stress test
3753	KCNE1	HP:0030973	Postexertional symptom exacerbation
3753	KCNE1	HP:0003577	Congenital onset
3753	KCNE1	HP:0008527	Congenital sensorineural hearing impairment
3753	KCNE1	HP:0007185	Loss of consciousness
3753	KCNE1	HP:0004308	Ventricular arrhythmia
3753	KCNE1	HP:0011476	Profound sensorineural hearing impairment
3753	KCNE1	HP:0011675	Arrhythmia
3753	KCNE1	HP:0005135	Abnormal T-wave
3753	KCNE1	HP:0005184	Prolonged QTc interval
3753	KCNE1	HP:0002900	Hypokalemia
3753	KCNE1	HP:0000365	Hearing impairment
3753	KCNE1	HP:0001688	Sinus bradycardia
3753	KCNE1	HP:0012332	Abnormal autonomic nervous system physiology
3753	KCNE1	HP:0001664	Torsade de pointes
3753	KCNE1	HP:0001645	Sudden cardiac death
3753	KCNE1	HP:0001663	Ventricular fibrillation
3753	KCNE1	HP:0001657	Prolonged QT interval
3753	KCNE1	HP:0006682	Premature ventricular contraction
3753	KCNE1	HP:0025708	Early young adult onset
3753	KCNE1	HP:0001891	Iron deficiency anemia
3756	KCNH1	HP:0001187	Hyperextensibility of the finger joints
3756	KCNH1	HP:0001181	Adducted thumb
3756	KCNH1	HP:0009928	Thick nasal alae
3756	KCNH1	HP:0009890	High anterior hairline
3756	KCNH1	HP:0009894	Thickened ears
3756	KCNH1	HP:0010864	Intellectual disability, severe
3756	KCNH1	HP:0009882	Short distal phalanx of finger
3756	KCNH1	HP:0001290	Generalized hypotonia
3756	KCNH1	HP:0001250	Seizure
3756	KCNH1	HP:0001252	Hypotonia
3756	KCNH1	HP:0001249	Intellectual disability
3756	KCNH1	HP:0001263	Global developmental delay
3756	KCNH1	HP:0007440	Generalized hyperpigmentation
3756	KCNH1	HP:0100874	Thick hair
3756	KCNH1	HP:0006016	Delayed phalangeal epiphyseal ossification
3756	KCNH1	HP:0002553	Highly arched eyebrow
3756	KCNH1	HP:0000040	Long penis
3756	KCNH1	HP:0001382	Joint hypermobility
3756	KCNH1	HP:0006191	Deep palmar crease
3756	KCNH1	HP:0001344	Absent speech
3756	KCNH1	HP:0000006	Autosomal dominant inheritance
3756	KCNH1	HP:0002650	Scoliosis
3756	KCNH1	HP:0002616	Aortic root aneurysm
3756	KCNH1	HP:0000194	Open mouth
3756	KCNH1	HP:0000193	Bifid uvula
3756	KCNH1	HP:0000158	Macroglossia
3756	KCNH1	HP:0001488	Bilateral ptosis
3756	KCNH1	HP:0000175	Cleft palate
3756	KCNH1	HP:0000169	Gingival fibromatosis
3756	KCNH1	HP:0000154	Wide mouth
3756	KCNH1	HP:0008947	Infantile muscular hypotonia
3756	KCNH1	HP:0002714	Downturned corners of mouth
3756	KCNH1	HP:0002020	Gastroesophageal reflux
3756	KCNH1	HP:0002019	Constipation
3756	KCNH1	HP:0002000	Short columella
3756	KCNH1	HP:0002058	Myopathic facies
3756	KCNH1	HP:0009623	Proximal placement of thumb
3756	KCNH1	HP:0002265	Large fleshy ears
3756	KCNH1	HP:0003593	Infantile onset
3756	KCNH1	HP:0002240	Hepatomegaly
3756	KCNH1	HP:0002219	Facial hypertrichosis
3756	KCNH1	HP:0009693	Pseudoepiphysis of the thumb
3756	KCNH1	HP:0009660	Short phalanx of the thumb
3756	KCNH1	HP:0010624	Aplastic/hypoplastic toenail
3756	KCNH1	HP:0009648	Triangular shaped distal phalanx of the thumb
3756	KCNH1	HP:0001007	Hirsutism
3756	KCNH1	HP:0002353	EEG abnormality
3756	KCNH1	HP:0010804	Tented upper lip vermilion
3756	KCNH1	HP:0010803	Everted upper lip vermilion
3756	KCNH1	HP:0006887	Intellectual disability, progressive
3756	KCNH1	HP:0010055	Broad hallux
3756	KCNH1	HP:0011344	Severe global developmental delay
3756	KCNH1	HP:0000684	Delayed eruption of teeth
3756	KCNH1	HP:0000657	Oculomotor apraxia
3756	KCNH1	HP:0011304	Broad thumb
3756	KCNH1	HP:0000668	Hypodontia
3756	KCNH1	HP:0000664	Synophrys
3756	KCNH1	HP:0000666	Horizontal nystagmus
3756	KCNH1	HP:0004322	Short stature
3756	KCNH1	HP:0030680	Abnormality of cardiovascular system morphology
3756	KCNH1	HP:0009102	Anterior open-bite malocclusion
3756	KCNH1	HP:0000787	Nephrolithiasis
3756	KCNH1	HP:0004425	Flat forehead
3756	KCNH1	HP:0000811	Abnormal external genitalia
3756	KCNH1	HP:0004554	Generalized hypertrichosis
3756	KCNH1	HP:0003298	Spina bifida occulta
3756	KCNH1	HP:0000977	Soft skin
3756	KCNH1	HP:0000286	Epicanthus
3756	KCNH1	HP:0000280	Coarse facial features
3756	KCNH1	HP:0000293	Full cheeks
3756	KCNH1	HP:0000294	Low anterior hairline
3756	KCNH1	HP:0000256	Macrocephaly
3756	KCNH1	HP:0000272	Malar flattening
3756	KCNH1	HP:0000268	Dolichocephaly
3756	KCNH1	HP:0005113	Aortic arch aneurysm
3756	KCNH1	HP:0006391	Overtubulated long bones
3756	KCNH1	HP:0000252	Microcephaly
3756	KCNH1	HP:0000218	High palate
3756	KCNH1	HP:0000212	Gingival overgrowth
3756	KCNH1	HP:0000232	Everted lower lip vermilion
3756	KCNH1	HP:0001537	Umbilical hernia
3756	KCNH1	HP:0001507	Growth abnormality
3756	KCNH1	HP:0001510	Growth delay
3756	KCNH1	HP:0011069	Supernumerary tooth
3756	KCNH1	HP:0000365	Hearing impairment
3756	KCNH1	HP:0000358	Posteriorly rotated ears
3756	KCNH1	HP:0000369	Low-set ears
3756	KCNH1	HP:0000343	Long philtrum
3756	KCNH1	HP:0000337	Broad forehead
3756	KCNH1	HP:0000348	High forehead
3756	KCNH1	HP:0000347	Micrognathia
3756	KCNH1	HP:0000316	Hypertelorism
3756	KCNH1	HP:0001643	Patent ductus arteriosus
3756	KCNH1	HP:0001642	Pulmonic stenosis
3756	KCNH1	HP:0000322	Short philtrum
3756	KCNH1	HP:0001638	Cardiomyopathy
3756	KCNH1	HP:0001631	Atrial septal defect
3756	KCNH1	HP:0000303	Mandibular prognathia
3756	KCNH1	HP:0000407	Sensorineural hearing impairment
3756	KCNH1	HP:0000400	Macrotia
3756	KCNH1	HP:0005280	Depressed nasal bridge
3756	KCNH1	HP:0012471	Thick vermilion border
3756	KCNH1	HP:0000494	Downslanted palpebral fissures
3756	KCNH1	HP:0001792	Small nail
3756	KCNH1	HP:0000463	Anteverted nares
3756	KCNH1	HP:0000455	Broad nasal tip
3756	KCNH1	HP:0000470	Short neck
3756	KCNH1	HP:0012443	Abnormality of brain morphology
3756	KCNH1	HP:0001798	Anonychia
3756	KCNH1	HP:0001763	Pes planus
3756	KCNH1	HP:0000445	Wide nose
3756	KCNH1	HP:0000414	Bulbous nose
3756	KCNH1	HP:0001744	Splenomegaly
3756	KCNH1	HP:0000431	Wide nasal bridge
3756	KCNH1	HP:0001761	Pes cavus
3756	KCNH1	HP:0000518	Cataract
3756	KCNH1	HP:0001847	Long hallux
3756	KCNH1	HP:0000527	Long eyelashes
3756	KCNH1	HP:0001857	Short distal phalanx of toe
3756	KCNH1	HP:0001822	Hallux valgus
3756	KCNH1	HP:0000506	Telecanthus
3756	KCNH1	HP:0001804	Hypoplastic fingernail
3756	KCNH1	HP:0001802	Absent toenail
3756	KCNH1	HP:0001817	Absent fingernail
3756	KCNH1	HP:0012554	Absent thumbnail
3756	KCNH1	HP:0012555	Absent nail of hallux
3756	KCNH1	HP:0012553	Hypoplastic thumbnail
3756	KCNH1	HP:0000574	Thick eyebrow
3756	KCNH1	HP:0001869	Deep plantar creases
3756	KCNH1	HP:0000545	Myopia
3757	KCNH2	HP:0001197	Abnormality of prenatal development or birth
3757	KCNH2	HP:0001279	Syncope
3757	KCNH2	HP:0001250	Seizure
3757	KCNH2	HP:0000006	Autosomal dominant inheritance
3757	KCNH2	HP:0500018	Abnormal cardiac exercise stress test
3757	KCNH2	HP:0004757	Paroxysmal atrial fibrillation
3757	KCNH2	HP:0003581	Adult onset
3757	KCNH2	HP:0001962	Palpitations
3757	KCNH2	HP:0004308	Ventricular arrhythmia
3757	KCNH2	HP:0011463	Childhood onset
3757	KCNH2	HP:0034303	Notched T wave
3757	KCNH2	HP:0005135	Abnormal T-wave
3757	KCNH2	HP:0005110	Atrial fibrillation
3757	KCNH2	HP:0012232	Shortened QT interval
3757	KCNH2	HP:0005184	Prolonged QTc interval
3757	KCNH2	HP:0002900	Hypokalemia
3757	KCNH2	HP:0000365	Hearing impairment
3757	KCNH2	HP:0001695	Cardiac arrest
3757	KCNH2	HP:0001688	Sinus bradycardia
3757	KCNH2	HP:0012332	Abnormal autonomic nervous system physiology
3757	KCNH2	HP:0001664	Torsade de pointes
3757	KCNH2	HP:0001678	Atrioventricular block
3757	KCNH2	HP:0001645	Sudden cardiac death
3757	KCNH2	HP:0001663	Ventricular fibrillation
3757	KCNH2	HP:0001662	Bradycardia
3757	KCNH2	HP:0001657	Prolonged QT interval
3757	KCNH2	HP:0025708	Early young adult onset
3758	KCNJ1	HP:0001281	Tetany
3758	KCNJ1	HP:0001250	Seizure
3758	KCNJ1	HP:0001249	Intellectual disability
3758	KCNJ1	HP:0001263	Global developmental delay
3758	KCNJ1	HP:0000007	Autosomal recessive inheritance
3758	KCNJ1	HP:0002632	Low-to-normal blood pressure
3758	KCNJ1	HP:0000121	Nephrocalcinosis
3758	KCNJ1	HP:0000128	Renal potassium wasting
3758	KCNJ1	HP:0000127	Renal salt wasting
3758	KCNJ1	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia
3758	KCNJ1	HP:0000103	Polyuria
3758	KCNJ1	HP:0002019	Constipation
3758	KCNJ1	HP:0002014	Diarrhea
3758	KCNJ1	HP:0002013	Vomiting
3758	KCNJ1	HP:0002007	Frontal bossing
3758	KCNJ1	HP:0003324	Generalized muscle weakness
3758	KCNJ1	HP:0003394	Muscle spasm
3758	KCNJ1	HP:0002150	Hypercalciuria
3758	KCNJ1	HP:0003401	Paresthesia
3758	KCNJ1	HP:0003566	Increased serum prostaglandin E2
3758	KCNJ1	HP:0003527	Hyperprostaglandinuria
3758	KCNJ1	HP:0003540	Impaired platelet aggregation
3758	KCNJ1	HP:0001090	Abnormally large globe
3758	KCNJ1	HP:0003623	Neonatal onset
3758	KCNJ1	HP:0001944	Dehydration
3758	KCNJ1	HP:0001945	Fever
3758	KCNJ1	HP:0001960	Hypokalemic metabolic alkalosis
3758	KCNJ1	HP:0001959	Polydipsia
3758	KCNJ1	HP:0004322	Short stature
3758	KCNJ1	HP:0003081	Increased urinary potassium
3758	KCNJ1	HP:0003113	Hypochloremia
3758	KCNJ1	HP:0003158	Hyposthenuria
3758	KCNJ1	HP:0000859	Hyperaldosteronism
3758	KCNJ1	HP:0000848	Increased circulating renin level
3758	KCNJ1	HP:0000841	Hyperactive renin-angiotensin system
3758	KCNJ1	HP:0000938	Osteopenia
3758	KCNJ1	HP:0000934	Chondrocalcinosis
3758	KCNJ1	HP:0000256	Macrocephaly
3758	KCNJ1	HP:0001561	Polyhydramnios
3758	KCNJ1	HP:0001563	Fetal polyuria
3758	KCNJ1	HP:0001508	Failure to thrive
3758	KCNJ1	HP:0001518	Small for gestational age
3758	KCNJ1	HP:0002917	Hypomagnesemia
3758	KCNJ1	HP:0002914	Hyperchloriduria
3758	KCNJ1	HP:0002900	Hypokalemia
3758	KCNJ1	HP:0000325	Triangular face
3758	KCNJ1	HP:0001622	Premature birth
3758	KCNJ1	HP:0000400	Macrotia
3758	KCNJ1	HP:0011220	Prominent forehead
3759	KCNJ2	HP:0001156	Brachydactyly
3759	KCNJ2	HP:0003768	Periodic paralysis
3759	KCNJ2	HP:0003778	Short mandibular rami
3759	KCNJ2	HP:0003779	Antegonial notching of mandible
3759	KCNJ2	HP:0007215	Periodic hyperkalemic paralysis
3759	KCNJ2	HP:0003752	Episodic flaccid weakness
3759	KCNJ2	HP:0001279	Syncope
3759	KCNJ2	HP:0001250	Seizure
3759	KCNJ2	HP:0000089	Renal hypoplasia
3759	KCNJ2	HP:0001388	Joint laxity
3759	KCNJ2	HP:0001328	Specific learning disability
3759	KCNJ2	HP:0001324	Muscle weakness
3759	KCNJ2	HP:0000006	Autosomal dominant inheritance
3759	KCNJ2	HP:0002650	Scoliosis
3759	KCNJ2	HP:0000164	Abnormality of the dentition
3759	KCNJ2	HP:0000175	Cleft palate
3759	KCNJ2	HP:0006335	Persistence of primary teeth
3759	KCNJ2	HP:0006297	Enamel hypoplasia
3759	KCNJ2	HP:0000124	Renal tubular dysfunction
3759	KCNJ2	HP:0002750	Delayed skeletal maturation
3759	KCNJ2	HP:0004691	2-3 toe syndactyly
3759	KCNJ2	HP:0008153	Periodic hypokalemic paresis
3759	KCNJ2	HP:0004757	Paroxysmal atrial fibrillation
3759	KCNJ2	HP:0004754	Permanent atrial fibrillation
3759	KCNJ2	HP:0003596	Middle age onset
3759	KCNJ2	HP:0003691	Scapular winging
3759	KCNJ2	HP:0025072	Prominent U wave
3759	KCNJ2	HP:0009803	Short phalanx of finger
3759	KCNJ2	HP:0200055	Small hand
3759	KCNJ2	HP:0010743	Short metatarsal
3759	KCNJ2	HP:0003621	Juvenile onset
3759	KCNJ2	HP:0004209	Clinodactyly of the 5th finger
3759	KCNJ2	HP:0004279	Short palm
3759	KCNJ2	HP:0001962	Palpitations
3759	KCNJ2	HP:0010049	Short metacarpal
3759	KCNJ2	HP:0000696	Delayed eruption of permanent teeth
3759	KCNJ2	HP:0000678	Dental crowding
3759	KCNJ2	HP:0000677	Oligodontia
3759	KCNJ2	HP:0001999	Abnormal facial shape
3759	KCNJ2	HP:0004322	Short stature
3759	KCNJ2	HP:0004308	Ventricular arrhythmia
3759	KCNJ2	HP:0012745	Short palpebral fissure
3759	KCNJ2	HP:0000716	Depression
3759	KCNJ2	HP:0012758	Neurodevelopmental delay
3759	KCNJ2	HP:0003100	Slender long bone
3759	KCNJ2	HP:0030799	Scaphocephaly
3759	KCNJ2	HP:0004467	Preauricular pit
3759	KCNJ2	HP:0000859	Hyperaldosteronism
3759	KCNJ2	HP:0000836	Hyperthyroidism
3759	KCNJ2	HP:0000272	Malar flattening
3759	KCNJ2	HP:0005135	Abnormal T-wave
3759	KCNJ2	HP:0005147	Bidirectional ventricular ectopy
3759	KCNJ2	HP:0005110	Atrial fibrillation
3759	KCNJ2	HP:0012232	Shortened QT interval
3759	KCNJ2	HP:0000252	Microcephaly
3759	KCNJ2	HP:0000219	Thin upper lip vermilion
3759	KCNJ2	HP:0000218	High palate
3759	KCNJ2	HP:0030033	Small finger
3759	KCNJ2	HP:0001507	Growth abnormality
3759	KCNJ2	HP:0001510	Growth delay
3759	KCNJ2	HP:0011073	Abnormality of dental color
3759	KCNJ2	HP:0005184	Prolonged QTc interval
3759	KCNJ2	HP:0002900	Hypokalemia
3759	KCNJ2	HP:0000369	Low-set ears
3759	KCNJ2	HP:0000337	Broad forehead
3759	KCNJ2	HP:0001664	Torsade de pointes
3759	KCNJ2	HP:0001678	Atrioventricular block
3759	KCNJ2	HP:0000347	Micrognathia
3759	KCNJ2	HP:0000316	Hypertelorism
3759	KCNJ2	HP:0001649	Tachycardia
3759	KCNJ2	HP:0001645	Sudden cardiac death
3759	KCNJ2	HP:0001644	Dilated cardiomyopathy
3759	KCNJ2	HP:0001663	Ventricular fibrillation
3759	KCNJ2	HP:0001662	Bradycardia
3759	KCNJ2	HP:0000327	Hypoplasia of the maxilla
3759	KCNJ2	HP:0001657	Prolonged QT interval
3759	KCNJ2	HP:0000325	Triangular face
3759	KCNJ2	HP:0000324	Facial asymmetry
3759	KCNJ2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles
3759	KCNJ2	HP:0006682	Premature ventricular contraction
3759	KCNJ2	HP:0001770	Toe syndactyly
3759	KCNJ2	HP:0001773	Short foot
3759	KCNJ2	HP:0000414	Bulbous nose
3759	KCNJ2	HP:0000431	Wide nasal bridge
3759	KCNJ2	HP:0025708	Early young adult onset
3759	KCNJ2	HP:0005478	Prominent frontal sinuses
3759	KCNJ2	HP:0031677	Polymorphic ventricular tachycardia
3759	KCNJ2	HP:0000581	Blepharophimosis
3759	KCNJ2	HP:0001864	Clinodactyly of the 5th toe
3762	KCNJ5	HP:0003768	Periodic paralysis
3762	KCNJ5	HP:0001197	Abnormality of prenatal development or birth
3762	KCNJ5	HP:0007215	Periodic hyperkalemic paralysis
3762	KCNJ5	HP:0003752	Episodic flaccid weakness
3762	KCNJ5	HP:0001279	Syncope
3762	KCNJ5	HP:0001250	Seizure
3762	KCNJ5	HP:0000089	Renal hypoplasia
3762	KCNJ5	HP:0001388	Joint laxity
3762	KCNJ5	HP:0001328	Specific learning disability
3762	KCNJ5	HP:0001324	Muscle weakness
3762	KCNJ5	HP:0000006	Autosomal dominant inheritance
3762	KCNJ5	HP:0002650	Scoliosis
3762	KCNJ5	HP:0000164	Abnormality of the dentition
3762	KCNJ5	HP:0006335	Persistence of primary teeth
3762	KCNJ5	HP:0500018	Abnormal cardiac exercise stress test
3762	KCNJ5	HP:0000124	Renal tubular dysfunction
3762	KCNJ5	HP:0000103	Polyuria
3762	KCNJ5	HP:0003351	Decreased circulating renin level
3762	KCNJ5	HP:0002018	Nausea
3762	KCNJ5	HP:0004691	2-3 toe syndactyly
3762	KCNJ5	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
3762	KCNJ5	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism
3762	KCNJ5	HP:0008153	Periodic hypokalemic paresis
3762	KCNJ5	HP:0002150	Hypercalciuria
3762	KCNJ5	HP:0004754	Permanent atrial fibrillation
3762	KCNJ5	HP:0002170	Intracranial hemorrhage
3762	KCNJ5	HP:0008221	Adrenal hyperplasia
3762	KCNJ5	HP:0200114	Metabolic alkalosis
3762	KCNJ5	HP:0002204	Pulmonary embolism
3762	KCNJ5	HP:0002315	Headache
3762	KCNJ5	HP:0025072	Prominent U wave
3762	KCNJ5	HP:0200055	Small hand
3762	KCNJ5	HP:0003623	Neonatal onset
3762	KCNJ5	HP:0001962	Palpitations
3762	KCNJ5	HP:0001942	Metabolic acidosis
3762	KCNJ5	HP:0001959	Polydipsia
3762	KCNJ5	HP:0012664	Reduced left ventricular ejection fraction
3762	KCNJ5	HP:0000678	Dental crowding
3762	KCNJ5	HP:0000677	Oligodontia
3762	KCNJ5	HP:0001999	Abnormal facial shape
3762	KCNJ5	HP:0004322	Short stature
3762	KCNJ5	HP:0004308	Ventricular arrhythmia
3762	KCNJ5	HP:0012745	Short palpebral fissure
3762	KCNJ5	HP:0012758	Neurodevelopmental delay
3762	KCNJ5	HP:0030799	Scaphocephaly
3762	KCNJ5	HP:0000859	Hyperaldosteronism
3762	KCNJ5	HP:0000822	Hypertension
3762	KCNJ5	HP:0040084	Abnormal circulating renin
3762	KCNJ5	HP:0005135	Abnormal T-wave
3762	KCNJ5	HP:0005147	Bidirectional ventricular ectopy
3762	KCNJ5	HP:0000219	Thin upper lip vermilion
3762	KCNJ5	HP:0000218	High palate
3762	KCNJ5	HP:0001510	Growth delay
3762	KCNJ5	HP:0011073	Abnormality of dental color
3762	KCNJ5	HP:0005184	Prolonged QTc interval
3762	KCNJ5	HP:0002900	Hypokalemia
3762	KCNJ5	HP:0000365	Hearing impairment
3762	KCNJ5	HP:0001695	Cardiac arrest
3762	KCNJ5	HP:0000360	Tinnitus
3762	KCNJ5	HP:0001688	Sinus bradycardia
3762	KCNJ5	HP:0000369	Low-set ears
3762	KCNJ5	HP:0012332	Abnormal autonomic nervous system physiology
3762	KCNJ5	HP:0000337	Broad forehead
3762	KCNJ5	HP:0001664	Torsade de pointes
3762	KCNJ5	HP:0001678	Atrioventricular block
3762	KCNJ5	HP:0000347	Micrognathia
3762	KCNJ5	HP:0000316	Hypertelorism
3762	KCNJ5	HP:0001645	Sudden cardiac death
3762	KCNJ5	HP:0001644	Dilated cardiomyopathy
3762	KCNJ5	HP:0000327	Hypoplasia of the maxilla
3762	KCNJ5	HP:0001657	Prolonged QT interval
3762	KCNJ5	HP:0000325	Triangular face
3762	KCNJ5	HP:0000324	Facial asymmetry
3762	KCNJ5	HP:0001635	Congestive heart failure
3762	KCNJ5	HP:0006696	Polymorphic and polytopic ventricular extrasystoles
3762	KCNJ5	HP:0006682	Premature ventricular contraction
3762	KCNJ5	HP:0001712	Left ventricular hypertrophy
3762	KCNJ5	HP:0001773	Short foot
3762	KCNJ5	HP:0000414	Bulbous nose
3762	KCNJ5	HP:0000431	Wide nasal bridge
3762	KCNJ5	HP:0025708	Early young adult onset
3762	KCNJ5	HP:0000421	Epistaxis
3762	KCNJ5	HP:0031677	Polymorphic ventricular tachycardia
3762	KCNJ5	HP:0001864	Clinodactyly of the 5th toe
3763	KCNJ6	HP:0009933	Narrow naris
3763	KCNJ6	HP:0010864	Intellectual disability, severe
3763	KCNJ6	HP:0001276	Hypertonia
3763	KCNJ6	HP:0001285	Spastic tetraparesis
3763	KCNJ6	HP:0001250	Seizure
3763	KCNJ6	HP:0001249	Intellectual disability
3763	KCNJ6	HP:0001263	Global developmental delay
3763	KCNJ6	HP:0008734	Decreased testicular size
3763	KCNJ6	HP:0001371	Flexion contracture
3763	KCNJ6	HP:0001347	Hyperreflexia
3763	KCNJ6	HP:0008897	Postnatal growth retardation
3763	KCNJ6	HP:0007485	Absence of subcutaneous fat
3763	KCNJ6	HP:0002659	Increased susceptibility to fractures
3763	KCNJ6	HP:0000006	Autosomal dominant inheritance
3763	KCNJ6	HP:0002650	Scoliosis
3763	KCNJ6	HP:0000194	Open mouth
3763	KCNJ6	HP:0002781	Upper airway obstruction
3763	KCNJ6	HP:0002094	Dyspnea
3763	KCNJ6	HP:0002093	Respiratory insufficiency
3763	KCNJ6	HP:0002187	Intellectual disability, profound
3763	KCNJ6	HP:0002179	Opisthotonus
3763	KCNJ6	HP:0003577	Congenital onset
3763	KCNJ6	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
3763	KCNJ6	HP:0100678	Premature skin wrinkling
3763	KCNJ6	HP:0010804	Tented upper lip vermilion
3763	KCNJ6	HP:0001090	Abnormally large globe
3763	KCNJ6	HP:0010751	Dimple chin
3763	KCNJ6	HP:0009064	Generalized lipodystrophy
3763	KCNJ6	HP:0009059	Congenital generalized lipodystrophy
3763	KCNJ6	HP:0011344	Severe global developmental delay
3763	KCNJ6	HP:0006956	Lateral ventricle dilatation
3763	KCNJ6	HP:0009125	Lipodystrophy
3763	KCNJ6	HP:0003292	Decreased serum leptin
3763	KCNJ6	HP:0000298	Mask-like facies
3763	KCNJ6	HP:0000292	Loss of facial adipose tissue
3763	KCNJ6	HP:0000290	Abnormality of the forehead
3763	KCNJ6	HP:0000252	Microcephaly
3763	KCNJ6	HP:0000218	High palate
3763	KCNJ6	HP:0000212	Gingival overgrowth
3763	KCNJ6	HP:0001561	Polyhydramnios
3763	KCNJ6	HP:0001508	Failure to thrive
3763	KCNJ6	HP:0006532	Recurrent pneumonia
3763	KCNJ6	HP:0000347	Micrognathia
3763	KCNJ6	HP:0000322	Short philtrum
3763	KCNJ6	HP:0005328	Progeroid facial appearance
3763	KCNJ6	HP:0005320	Lack of facial subcutaneous fat
3763	KCNJ6	HP:0005274	Prominent nasal tip
3763	KCNJ6	HP:0000496	Abnormality of eye movement
3763	KCNJ6	HP:0000446	Narrow nasal bridge
3763	KCNJ6	HP:0000430	Underdeveloped nasal alae
3763	KCNJ6	HP:0000520	Proptosis
3763	KCNJ6	HP:0000586	Shallow orbits
3764	KCNJ8	HP:0009882	Short distal phalanx of finger
3764	KCNJ8	HP:0001279	Syncope
3764	KCNJ8	HP:0001256	Intellectual disability, mild
3764	KCNJ8	HP:0006101	Finger syndactyly
3764	KCNJ8	HP:0002673	Coxa valga
3764	KCNJ8	HP:0002652	Skeletal dysplasia
3764	KCNJ8	HP:0000154	Wide mouth
3764	KCNJ8	HP:0007665	Curly eyelashes
3764	KCNJ8	HP:0002750	Delayed skeletal maturation
3764	KCNJ8	HP:0004634	Cuboid-shaped vertebral bodies
3764	KCNJ8	HP:0003300	Ovoid vertebral bodies
3764	KCNJ8	HP:0011715	Trifascicular block
3764	KCNJ8	HP:0011712	Right bundle branch block
3764	KCNJ8	HP:0011704	Sick sinus syndrome
3764	KCNJ8	HP:0011705	First degree atrioventricular block
3764	KCNJ8	HP:0004755	Supraventricular tachycardia
3764	KCNJ8	HP:0004751	Paroxysmal ventricular tachycardia
3764	KCNJ8	HP:0002162	Low posterior hairline
3764	KCNJ8	HP:0002230	Generalized hirsutism
3764	KCNJ8	HP:0010059	Broad hallux phalanx
3764	KCNJ8	HP:0004308	Ventricular arrhythmia
3764	KCNJ8	HP:0005616	Accelerated skeletal maturation
3764	KCNJ8	HP:0010109	Short hallux
3764	KCNJ8	HP:0000774	Narrow chest
3764	KCNJ8	HP:0000926	Platyspondyly
3764	KCNJ8	HP:0000885	Broad ribs
3764	KCNJ8	HP:0000939	Osteoporosis
3764	KCNJ8	HP:0000944	Abnormal metaphysis morphology
3764	KCNJ8	HP:0000286	Epicanthus
3764	KCNJ8	HP:0000280	Coarse facial features
3764	KCNJ8	HP:0000294	Low anterior hairline
3764	KCNJ8	HP:0012251	ST segment elevation
3764	KCNJ8	HP:0000256	Macrocephaly
3764	KCNJ8	HP:0001537	Umbilical hernia
3764	KCNJ8	HP:0001695	Cardiac arrest
3764	KCNJ8	HP:0000343	Long philtrum
3764	KCNJ8	HP:0000336	Prominent supraorbital ridges
3764	KCNJ8	HP:0001649	Tachycardia
3764	KCNJ8	HP:0001643	Patent ductus arteriosus
3764	KCNJ8	HP:0001663	Ventricular fibrillation
3764	KCNJ8	HP:0001654	Abnormal heart valve morphology
3764	KCNJ8	HP:0001640	Cardiomegaly
3764	KCNJ8	HP:0001639	Hypertrophic cardiomyopathy
3764	KCNJ8	HP:0012471	Thick vermilion border
3764	KCNJ8	HP:0000463	Anteverted nares
3764	KCNJ8	HP:0000470	Short neck
3764	KCNJ8	HP:0000431	Wide nasal bridge
3764	KCNJ8	HP:0000527	Long eyelashes
3764	KCNJ8	HP:0000574	Thick eyebrow
3764	KCNJ8	HP:0001869	Deep plantar creases
3766	KCNJ10	HP:0007267	Chronic axonal neuropathy
3766	KCNJ10	HP:0008586	Hypoplasia of the cochlea
3766	KCNJ10	HP:0008554	Cochlear malformation
3766	KCNJ10	HP:0001290	Generalized hypotonia
3766	KCNJ10	HP:0001272	Cerebellar atrophy
3766	KCNJ10	HP:0001250	Seizure
3766	KCNJ10	HP:0001252	Hypotonia
3766	KCNJ10	HP:0001251	Ataxia
3766	KCNJ10	HP:0001249	Intellectual disability
3766	KCNJ10	HP:0001263	Global developmental delay
3766	KCNJ10	HP:0007340	Lower limb muscle weakness
3766	KCNJ10	HP:0002540	Inability to walk
3766	KCNJ10	HP:0001344	Absent speech
3766	KCNJ10	HP:0000007	Autosomal recessive inheritance
3766	KCNJ10	HP:0025484	Increased circulating thyroglobulin level
3766	KCNJ10	HP:0002777	Tracheal stenosis
3766	KCNJ10	HP:0000128	Renal potassium wasting
3766	KCNJ10	HP:0000127	Renal salt wasting
3766	KCNJ10	HP:0000112	Nephropathy
3766	KCNJ10	HP:0000103	Polyuria
3766	KCNJ10	HP:0002080	Intention tremor
3766	KCNJ10	HP:0002093	Respiratory insufficiency
3766	KCNJ10	HP:0002075	Dysdiadochokinesis
3766	KCNJ10	HP:0003477	Peripheral axonal neuropathy
3766	KCNJ10	HP:0002197	Generalized-onset seizure
3766	KCNJ10	HP:0002167	Abnormality of speech or vocalization
3766	KCNJ10	HP:0008223	Compensated hypothyroidism
3766	KCNJ10	HP:0003593	Infantile onset
3766	KCNJ10	HP:0003577	Congenital onset
3766	KCNJ10	HP:0200114	Metabolic alkalosis
3766	KCNJ10	HP:0032067	Elevated serum bicarbonate concentration
3766	KCNJ10	HP:0002345	Action tremor
3766	KCNJ10	HP:0002355	Difficulty walking
3766	KCNJ10	HP:0002321	Vertigo
3766	KCNJ10	HP:0008527	Congenital sensorineural hearing impairment
3766	KCNJ10	HP:0007182	Peripheral hypomyelination
3766	KCNJ10	HP:0005567	Renal magnesium wasting
3766	KCNJ10	HP:0012606	Renal sodium wasting
3766	KCNJ10	HP:0001960	Hypokalemic metabolic alkalosis
3766	KCNJ10	HP:0001959	Polydipsia
3766	KCNJ10	HP:0011387	Enlarged vestibular aqueduct
3766	KCNJ10	HP:0004322	Short stature
3766	KCNJ10	HP:0000805	Enuresis
3766	KCNJ10	HP:0000750	Delayed speech and language development
3766	KCNJ10	HP:0003127	Hypocalciuria
3766	KCNJ10	HP:0000859	Hyperaldosteronism
3766	KCNJ10	HP:0000853	Goiter
3766	KCNJ10	HP:0000848	Increased circulating renin level
3766	KCNJ10	HP:0000843	Hyperparathyroidism
3766	KCNJ10	HP:0000822	Hypertension
3766	KCNJ10	HP:0000821	Hypothyroidism
3766	KCNJ10	HP:0030083	Salt craving
3766	KCNJ10	HP:0002890	Thyroid carcinoma
3766	KCNJ10	HP:0002917	Hypomagnesemia
3766	KCNJ10	HP:0002900	Hypokalemia
3766	KCNJ10	HP:0000359	Abnormality of the inner ear
3766	KCNJ10	HP:0000376	Incomplete partition of the cochlea type II
3766	KCNJ10	HP:0000407	Sensorineural hearing impairment
3766	KCNJ10	HP:0001751	Abnormal vestibular function
3766	KCNJ10	HP:0012591	Abnormal urinary electrolyte concentration
3767	KCNJ11	HP:0010935	Abnormality of the upper urinary tract
3767	KCNJ11	HP:0009894	Thickened ears
3767	KCNJ11	HP:0010864	Intellectual disability, severe
3767	KCNJ11	HP:0001270	Motor delay
3767	KCNJ11	HP:0001279	Syncope
3767	KCNJ11	HP:0001254	Lethargy
3767	KCNJ11	HP:0001250	Seizure
3767	KCNJ11	HP:0001252	Hypotonia
3767	KCNJ11	HP:0001251	Ataxia
3767	KCNJ11	HP:0001249	Intellectual disability
3767	KCNJ11	HP:0002594	Pancreatic hypoplasia
3767	KCNJ11	HP:0002591	Polyphagia
3767	KCNJ11	HP:0001263	Global developmental delay
3767	KCNJ11	HP:0001259	Coma
3767	KCNJ11	HP:0031084	Excessive insulin response to glucagon test
3767	KCNJ11	HP:0031080	Abnormal response to glucagon stimulation test
3767	KCNJ11	HP:0007334	Bilateral tonic-clonic seizure with focal onset
3767	KCNJ11	HP:0002521	Hypsarrhythmia
3767	KCNJ11	HP:0000077	Abnormality of the kidney
3767	KCNJ11	HP:0000079	Abnormality of the urinary system
3767	KCNJ11	HP:0001371	Flexion contracture
3767	KCNJ11	HP:0012028	Hepatocellular adenoma
3767	KCNJ11	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity
3767	KCNJ11	HP:0001324	Muscle weakness
3767	KCNJ11	HP:0001325	Hypoglycemic coma
3767	KCNJ11	HP:0000007	Autosomal recessive inheritance
3767	KCNJ11	HP:0000006	Autosomal dominant inheritance
3767	KCNJ11	HP:0000158	Macroglossia
3767	KCNJ11	HP:0001488	Bilateral ptosis
3767	KCNJ11	HP:0008947	Infantile muscular hypotonia
3767	KCNJ11	HP:0008936	Axial hypotonia
3767	KCNJ11	HP:0006274	Reduced pancreatic beta cells
3767	KCNJ11	HP:0000119	Abnormality of the genitourinary system
3767	KCNJ11	HP:0000124	Renal tubular dysfunction
3767	KCNJ11	HP:0000112	Nephropathy
3767	KCNJ11	HP:0000107	Renal cyst
3767	KCNJ11	HP:0031223	Focal pancreatic islet hyperplasia
3767	KCNJ11	HP:0031224	Diffuse pancreatic islet hyperplasia
3767	KCNJ11	HP:0002714	Downturned corners of mouth
3767	KCNJ11	HP:0002013	Vomiting
3767	KCNJ11	HP:0005978	Type II diabetes mellitus
3767	KCNJ11	HP:0002069	Bilateral tonic-clonic seizure
3767	KCNJ11	HP:0008194	Multiple pancreatic beta-cell adenomas
3767	KCNJ11	HP:0040299	Decreased circulating free fatty acid level
3767	KCNJ11	HP:0003477	Peripheral axonal neuropathy
3767	KCNJ11	HP:0002123	Generalized myoclonic seizure
3767	KCNJ11	HP:0002133	Status epilepticus
3767	KCNJ11	HP:0002104	Apnea
3767	KCNJ11	HP:0002186	Apraxia
3767	KCNJ11	HP:0002173	Hypoglycemic seizures
3767	KCNJ11	HP:0008255	Transient neonatal diabetes mellitus
3767	KCNJ11	HP:0003593	Infantile onset
3767	KCNJ11	HP:0002240	Hepatomegaly
3767	KCNJ11	HP:0003584	Late onset
3767	KCNJ11	HP:0011968	Feeding difficulties
3767	KCNJ11	HP:0001069	Episodic hyperhidrosis
3767	KCNJ11	HP:0002329	Drowsiness
3767	KCNJ11	HP:0100651	Type I diabetes mellitus
3767	KCNJ11	HP:0009830	Peripheral neuropathy
3767	KCNJ11	HP:0009800	Maternal diabetes
3767	KCNJ11	HP:0003623	Neonatal onset
3767	KCNJ11	HP:0004924	Abnormal oral glucose tolerance
3767	KCNJ11	HP:0007185	Loss of consciousness
3767	KCNJ11	HP:0004904	Maturity-onset diabetes of the young
3767	KCNJ11	HP:0031819	Increased waist to hip ratio
3767	KCNJ11	HP:0001962	Palpitations
3767	KCNJ11	HP:0001944	Dehydration
3767	KCNJ11	HP:0001943	Hypoglycemia
3767	KCNJ11	HP:0001953	Diabetic ketoacidosis
3767	KCNJ11	HP:0001952	Glucose intolerance
3767	KCNJ11	HP:0011342	Mild global developmental delay
3767	KCNJ11	HP:0001993	Ketoacidosis
3767	KCNJ11	HP:0001988	Recurrent hypoglycemia
3767	KCNJ11	HP:0001985	Hypoketotic hypoglycemia
3767	KCNJ11	HP:0001998	Neonatal hypoglycemia
3767	KCNJ11	HP:0003076	Glycosuria
3767	KCNJ11	HP:0003074	Hyperglycemia
3767	KCNJ11	HP:0000713	Agitation
3767	KCNJ11	HP:0000707	Abnormality of the nervous system
3767	KCNJ11	HP:0011463	Childhood onset
3767	KCNJ11	HP:0012758	Neurodevelopmental delay
3767	KCNJ11	HP:0012759	Neurodevelopmental abnormality
3767	KCNJ11	HP:0003118	Increased circulating cortisol level
3767	KCNJ11	HP:0005750	Lower-limb joint contracture
3767	KCNJ11	HP:0030796	Increased C-peptide level
3767	KCNJ11	HP:0030795	Reduced C-peptide level
3767	KCNJ11	HP:0030794	Abnormal circulating C-peptide concentration
3767	KCNJ11	HP:0003196	Short nose
3767	KCNJ11	HP:0003162	Fasting hypoglycemia
3767	KCNJ11	HP:0000855	Insulin resistance
3767	KCNJ11	HP:0000857	Neonatal insulin-dependent diabetes mellitus
3767	KCNJ11	HP:0000831	Insulin-resistant diabetes mellitus
3767	KCNJ11	HP:0000845	Elevated circulating growth hormone concentration
3767	KCNJ11	HP:0000842	Hyperinsulinemia
3767	KCNJ11	HP:0000825	Hyperinsulinemic hypoglycemia
3767	KCNJ11	HP:0000821	Hypothyroidism
3767	KCNJ11	HP:0040025	Clinodactyly of the 4th finger
3767	KCNJ11	HP:0040064	Abnormality of limbs
3767	KCNJ11	HP:0040214	Abnormal circulating insulin concentration
3767	KCNJ11	HP:0040217	Elevated hemoglobin A1c
3767	KCNJ11	HP:0040216	Hypoinsulinemia
3767	KCNJ11	HP:0004510	Pancreatic islet-cell hyperplasia
3767	KCNJ11	HP:0045081	Abnormality of body mass index
3767	KCNJ11	HP:0000980	Pallor
3767	KCNJ11	HP:0000956	Acanthosis nigricans
3767	KCNJ11	HP:0034346	Nesidioblastosis
3767	KCNJ11	HP:0030057	Autoimmune antibody positivity
3767	KCNJ11	HP:0002804	Arthrogryposis multiplex congenita
3767	KCNJ11	HP:0025502	Overweight
3767	KCNJ11	HP:0001537	Umbilical hernia
3767	KCNJ11	HP:0001508	Failure to thrive
3767	KCNJ11	HP:0001520	Large for gestational age
3767	KCNJ11	HP:0001518	Small for gestational age
3767	KCNJ11	HP:0001511	Intrauterine growth retardation
3767	KCNJ11	HP:0001513	Obesity
3767	KCNJ11	HP:0002919	Ketonuria
3767	KCNJ11	HP:0000365	Hearing impairment
3767	KCNJ11	HP:0000343	Long philtrum
3767	KCNJ11	HP:0032794	Myoclonic seizure
3767	KCNJ11	HP:0001649	Tachycardia
3767	KCNJ11	HP:0001627	Abnormal heart morphology
3767	KCNJ11	HP:0001639	Hypertrophic cardiomyopathy
3767	KCNJ11	HP:0001738	Exocrine pancreatic insufficiency
3767	KCNJ11	HP:0000488	Retinopathy
3767	KCNJ11	HP:0000463	Anteverted nares
3767	KCNJ11	HP:0011106	Hypovolemia
3767	KCNJ11	HP:0025709	Intermediate young adult onset
3767	KCNJ11	HP:0005487	Prominent metopic ridge
3767	KCNJ11	HP:0001824	Weight loss
3767	KCNJ11	HP:0012594	Moderate albuminuria
3769	KCNJ13	HP:0001141	Severely reduced visual acuity
3769	KCNJ13	HP:0001123	Visual field defect
3769	KCNJ13	HP:0001250	Seizure
3769	KCNJ13	HP:0001252	Hypotonia
3769	KCNJ13	HP:0001249	Intellectual disability
3769	KCNJ13	HP:0001263	Global developmental delay
3769	KCNJ13	HP:0012038	Corneal guttata
3769	KCNJ13	HP:0000007	Autosomal recessive inheritance
3769	KCNJ13	HP:0000006	Autosomal dominant inheritance
3769	KCNJ13	HP:0007663	Reduced visual acuity
3769	KCNJ13	HP:0002084	Encephalocele
3769	KCNJ13	HP:0003593	Infantile onset
3769	KCNJ13	HP:0002269	Abnormality of neuronal migration
3769	KCNJ13	HP:0032027	Retinal dots
3769	KCNJ13	HP:0003623	Neonatal onset
3769	KCNJ13	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
3769	KCNJ13	HP:0000639	Nystagmus
3769	KCNJ13	HP:0000613	Photophobia
3769	KCNJ13	HP:0000662	Nyctalopia
3769	KCNJ13	HP:0030663	Optically empty vitreous
3769	KCNJ13	HP:0004374	Hemiplegia/hemiparesis
3769	KCNJ13	HP:0012795	Abnormal optic disc morphology
3769	KCNJ13	HP:0011533	Snowflake vitreoretinal degeneration
3769	KCNJ13	HP:0007703	Abnormality of retinal pigmentation
3769	KCNJ13	HP:0000365	Hearing impairment
3769	KCNJ13	HP:0000486	Strabismus
3769	KCNJ13	HP:0000518	Cataract
3769	KCNJ13	HP:0000512	Abnormal electroretinogram
3769	KCNJ13	HP:0000505	Visual impairment
3769	KCNJ13	HP:0000563	Keratoconus
3769	KCNJ13	HP:0000541	Retinal detachment
3769	KCNJ13	HP:0000543	Optic disc pallor
3773	KCNJ16	HP:0001250	Seizure
3773	KCNJ16	HP:0001251	Ataxia
3773	KCNJ16	HP:0000007	Autosomal recessive inheritance
3773	KCNJ16	HP:0000127	Renal salt wasting
3773	KCNJ16	HP:0001941	Acidosis
3773	KCNJ16	HP:0000859	Hyperaldosteronism
3773	KCNJ16	HP:0000848	Increased circulating renin level
3773	KCNJ16	HP:0000407	Sensorineural hearing impairment
3777	KCNK3	HP:0000006	Autosomal dominant inheritance
3777	KCNK3	HP:0002092	Pulmonary arterial hypertension
3777	KCNK3	HP:0011712	Right bundle branch block
3777	KCNK3	HP:0011705	First degree atrioventricular block
3777	KCNK3	HP:0004749	Atrial flutter
3777	KCNK3	HP:0003596	Middle age onset
3777	KCNK3	HP:0004890	Elevated pulmonary artery pressure
3777	KCNK3	HP:0003676	Progressive
3777	KCNK3	HP:0003621	Juvenile onset
3777	KCNK3	HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge
3777	KCNK3	HP:0001907	Thromboembolism
3777	KCNK3	HP:0011462	Young adult onset
3777	KCNK3	HP:0005317	Increased pulmonary vascular resistance
3778	KCNMA1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
3778	KCNMA1	HP:0007270	Atypical absence seizure
3778	KCNMA1	HP:0001290	Generalized hypotonia
3778	KCNMA1	HP:0001272	Cerebellar atrophy
3778	KCNMA1	HP:0001250	Seizure
3778	KCNMA1	HP:0001252	Hypotonia
3778	KCNMA1	HP:0001251	Ataxia
3778	KCNMA1	HP:0001263	Global developmental delay
3778	KCNMA1	HP:0007334	Bilateral tonic-clonic seizure with focal onset
3778	KCNMA1	HP:0002500	Abnormal cerebral white matter morphology
3778	KCNMA1	HP:0001348	Brisk reflexes
3778	KCNMA1	HP:0001332	Dystonia
3778	KCNMA1	HP:0000007	Autosomal recessive inheritance
3778	KCNMA1	HP:0000006	Autosomal dominant inheritance
3778	KCNMA1	HP:0000158	Macroglossia
3778	KCNMA1	HP:0000154	Wide mouth
3778	KCNMA1	HP:0008936	Axial hypotonia
3778	KCNMA1	HP:0002714	Downturned corners of mouth
3778	KCNMA1	HP:0002069	Bilateral tonic-clonic seizure
3778	KCNMA1	HP:0002072	Chorea
3778	KCNMA1	HP:0002059	Cerebral atrophy
3778	KCNMA1	HP:0002121	Generalized non-motor (absence) seizure
3778	KCNMA1	HP:0002133	Status epilepticus
3778	KCNMA1	HP:0002197	Generalized-onset seizure
3778	KCNMA1	HP:0003593	Infantile onset
3778	KCNMA1	HP:0002353	EEG abnormality
3778	KCNMA1	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
3778	KCNMA1	HP:0010841	Multifocal epileptiform discharges
3778	KCNMA1	HP:0007166	Paroxysmal dyskinesia
3778	KCNMA1	HP:0003623	Neonatal onset
3778	KCNMA1	HP:0003621	Juvenile onset
3778	KCNMA1	HP:0006889	Intellectual disability, borderline
3778	KCNMA1	HP:0000639	Nystagmus
3778	KCNMA1	HP:0000699	Diastema
3778	KCNMA1	HP:0000675	Macrodontia of permanent maxillary central incisor
3778	KCNMA1	HP:0000664	Synophrys
3778	KCNMA1	HP:0004322	Short stature
3778	KCNMA1	HP:0000750	Delayed speech and language development
3778	KCNMA1	HP:0011463	Childhood onset
3778	KCNMA1	HP:0000252	Microcephaly
3778	KCNMA1	HP:0000219	Thin upper lip vermilion
3778	KCNMA1	HP:0000212	Gingival overgrowth
3778	KCNMA1	HP:0000232	Everted lower lip vermilion
3778	KCNMA1	HP:0001601	Laryngomalacia
3778	KCNMA1	HP:0032794	Myoclonic seizure
3778	KCNMA1	HP:0000316	Hypertelorism
3778	KCNMA1	HP:0011150	Myoclonic absence seizure
3778	KCNMA1	HP:0000486	Strabismus
3778	KCNMA1	HP:0000485	Megalocornea
3778	KCNMA1	HP:0000494	Downslanted palpebral fissures
3778	KCNMA1	HP:0000431	Wide nasal bridge
3778	KCNMA1	HP:0000565	Esotropia
3781	KCNN2	HP:0009921	Duane anomaly
3781	KCNN2	HP:0025269	Panic attack
3781	KCNN2	HP:0001270	Motor delay
3781	KCNN2	HP:0001251	Ataxia
3781	KCNN2	HP:0001249	Intellectual disability
3781	KCNN2	HP:0001263	Global developmental delay
3781	KCNN2	HP:0007338	Hypermetric saccades
3781	KCNN2	HP:0002518	Abnormal periventricular white matter morphology
3781	KCNN2	HP:0001332	Dystonia
3781	KCNN2	HP:0000006	Autosomal dominant inheritance
3781	KCNN2	HP:0001336	Myoclonus
3781	KCNN2	HP:0001300	Parkinsonism
3781	KCNN2	HP:0002080	Intention tremor
3781	KCNN2	HP:0002069	Bilateral tonic-clonic seizure
3781	KCNN2	HP:0002067	Bradykinesia
3781	KCNN2	HP:0002072	Chorea
3781	KCNN2	HP:0002188	Delayed CNS myelination
3781	KCNN2	HP:0003593	Infantile onset
3781	KCNN2	HP:0007018	Attention deficit hyperactivity disorder
3781	KCNN2	HP:0007082	Dilated third ventricle
3781	KCNN2	HP:0002396	Cogwheel rigidity
3781	KCNN2	HP:0002378	Hand tremor
3781	KCNN2	HP:0002356	Writer's cramp
3781	KCNN2	HP:0002346	Head tremor
3781	KCNN2	HP:0002322	Resting tremor
3781	KCNN2	HP:0100660	Dyskinesia
3781	KCNN2	HP:0003621	Juvenile onset
3781	KCNN2	HP:0000646	Amblyopia
3781	KCNN2	HP:0031951	Nocturnal seizures
3781	KCNN2	HP:0100034	Motor tics
3781	KCNN2	HP:0000739	Anxiety
3781	KCNN2	HP:0000750	Delayed speech and language development
3781	KCNN2	HP:0000729	Autistic behavior
3781	KCNN2	HP:0000709	Psychosis
3781	KCNN2	HP:0011463	Childhood onset
3781	KCNN2	HP:0007772	Impaired smooth pursuit
3781	KCNN2	HP:0001583	Rotary nystagmus
3781	KCNN2	HP:0000252	Microcephaly
3781	KCNN2	HP:0031629	Impaired tandem gait
3781	KCNN2	HP:0000473	Torticollis
3781	KCNN2	HP:0000508	Ptosis
3782	KCNN3	HP:0001199	Triphalangeal thumb
3782	KCNN3	HP:0009894	Thickened ears
3782	KCNN3	HP:0009882	Short distal phalanx of finger
3782	KCNN3	HP:0001290	Generalized hypotonia
3782	KCNN3	HP:0001250	Seizure
3782	KCNN3	HP:0001249	Intellectual disability
3782	KCNN3	HP:0001263	Global developmental delay
3782	KCNN3	HP:0007440	Generalized hyperpigmentation
3782	KCNN3	HP:0100874	Thick hair
3782	KCNN3	HP:0001371	Flexion contracture
3782	KCNN3	HP:0001382	Joint hypermobility
3782	KCNN3	HP:0006191	Deep palmar crease
3782	KCNN3	HP:0000006	Autosomal dominant inheritance
3782	KCNN3	HP:0000179	Thick lower lip vermilion
3782	KCNN3	HP:0000193	Bifid uvula
3782	KCNN3	HP:0000158	Macroglossia
3782	KCNN3	HP:0000175	Cleft palate
3782	KCNN3	HP:0000169	Gingival fibromatosis
3782	KCNN3	HP:0000154	Wide mouth
3782	KCNN3	HP:0008947	Infantile muscular hypotonia
3782	KCNN3	HP:0032524	Long thumb
3782	KCNN3	HP:0010432	Absent distal phalanx of the 2nd toe
3782	KCNN3	HP:0002265	Large fleshy ears
3782	KCNN3	HP:0002240	Hepatomegaly
3782	KCNN3	HP:0002219	Facial hypertrichosis
3782	KCNN3	HP:0000668	Hypodontia
3782	KCNN3	HP:0000664	Synophrys
3782	KCNN3	HP:0030680	Abnormality of cardiovascular system morphology
3782	KCNN3	HP:0009102	Anterior open-bite malocclusion
3782	KCNN3	HP:0100380	Aplasia of the distal phalanx of the 5th toe
3782	KCNN3	HP:0000811	Abnormal external genitalia
3782	KCNN3	HP:0004554	Generalized hypertrichosis
3782	KCNN3	HP:0000998	Hypertrichosis
3782	KCNN3	HP:0000977	Soft skin
3782	KCNN3	HP:0005807	Absent distal phalanges
3782	KCNN3	HP:0000280	Coarse facial features
3782	KCNN3	HP:0000294	Low anterior hairline
3782	KCNN3	HP:0030084	Clinodactyly
3782	KCNN3	HP:0002808	Kyphosis
3782	KCNN3	HP:0006391	Overtubulated long bones
3782	KCNN3	HP:0000218	High palate
3782	KCNN3	HP:0000212	Gingival overgrowth
3782	KCNN3	HP:0001510	Growth delay
3782	KCNN3	HP:0011069	Supernumerary tooth
3782	KCNN3	HP:0000347	Micrognathia
3782	KCNN3	HP:0000316	Hypertelorism
3782	KCNN3	HP:0001643	Patent ductus arteriosus
3782	KCNN3	HP:0000407	Sensorineural hearing impairment
3782	KCNN3	HP:0000494	Downslanted palpebral fissures
3782	KCNN3	HP:0001792	Small nail
3782	KCNN3	HP:0000455	Broad nasal tip
3782	KCNN3	HP:0000470	Short neck
3782	KCNN3	HP:0001763	Pes planus
3782	KCNN3	HP:0000445	Wide nose
3782	KCNN3	HP:0000414	Bulbous nose
3782	KCNN3	HP:0001744	Splenomegaly
3782	KCNN3	HP:0000431	Wide nasal bridge
3782	KCNN3	HP:0001761	Pes cavus
3782	KCNN3	HP:0000518	Cataract
3782	KCNN3	HP:0001847	Long hallux
3782	KCNN3	HP:0000527	Long eyelashes
3782	KCNN3	HP:0001822	Hallux valgus
3782	KCNN3	HP:0000506	Telecanthus
3782	KCNN3	HP:0001804	Hypoplastic fingernail
3782	KCNN3	HP:0001802	Absent toenail
3782	KCNN3	HP:0001817	Absent fingernail
3782	KCNN3	HP:0000574	Thick eyebrow
3782	KCNN3	HP:0001869	Deep plantar creases
3783	KCNN4	HP:0032261	Nontuberculous mycobacterial pulmonary infection
3783	KCNN4	HP:0002570	Steatorrhea
3783	KCNN4	HP:0010972	Anemia of inadequate production
3783	KCNN4	HP:0032342	Reduced forced expiratory volume in one second
3783	KCNN4	HP:0001392	Abnormality of the liver
3783	KCNN4	HP:0001394	Cirrhosis
3783	KCNN4	HP:0000006	Autosomal dominant inheritance
3783	KCNN4	HP:0025435	Increased circulating lactate dehydrogenase concentration
3783	KCNN4	HP:0002726	Recurrent Staphylococcus aureus infections
3783	KCNN4	HP:0002724	Recurrent Aspergillus infections
3783	KCNN4	HP:0002024	Malabsorption
3783	KCNN4	HP:0002020	Gastroesophageal reflux
3783	KCNN4	HP:0002035	Rectal prolapse
3783	KCNN4	HP:0002027	Abdominal pain
3783	KCNN4	HP:0002099	Asthma
3783	KCNN4	HP:0030950	Pulmonary venous hypertension
3783	KCNN4	HP:0100582	Nasal polyposis
3783	KCNN4	HP:0002110	Bronchiectasis
3783	KCNN4	HP:0002107	Pneumothorax
3783	KCNN4	HP:0002105	Hemoptysis
3783	KCNN4	HP:0003593	Infantile onset
3783	KCNN4	HP:0003577	Congenital onset
3783	KCNN4	HP:0003573	Increased total bilirubin
3783	KCNN4	HP:0002240	Hepatomegaly
3783	KCNN4	HP:0002205	Recurrent respiratory infections
3783	KCNN4	HP:0020063	Increased hemoglobin concentration
3783	KCNN4	HP:0004823	Anisopoikilocytosis
3783	KCNN4	HP:0004804	Congenital hemolytic anemia
3783	KCNN4	HP:0001046	Intermittent jaundice
3783	KCNN4	HP:0001081	Cholelithiasis
3783	KCNN4	HP:0020122	Bite cells
3783	KCNN4	HP:0005518	Increased mean corpuscular volume
3783	KCNN4	HP:0005502	Increased red cell osmotic fragility
3783	KCNN4	HP:0001981	Schistocytosis
3783	KCNN4	HP:0001972	Macrocytic anemia
3783	KCNN4	HP:0001927	Acanthocytosis
3783	KCNN4	HP:0001923	Reticulocytosis
3783	KCNN4	HP:0001930	Nonspherocytic hemolytic anemia
3783	KCNN4	HP:0001907	Thromboembolism
3783	KCNN4	HP:0001901	Polycythemia
3783	KCNN4	HP:0000739	Anxiety
3783	KCNN4	HP:0000716	Depression
3783	KCNN4	HP:0011463	Childhood onset
3783	KCNN4	HP:0000787	Nephrolithiasis
3783	KCNN4	HP:0004401	Meconium ileus
3783	KCNN4	HP:0012873	Absent vas deferens
3783	KCNN4	HP:0045082	Decreased body mass index
3783	KCNN4	HP:0003281	Increased circulating ferritin concentration
3783	KCNN4	HP:0003265	Neonatal hyperbilirubinemia
3783	KCNN4	HP:0000952	Jaundice
3783	KCNN4	HP:0000969	Edema
3783	KCNN4	HP:0000939	Osteoporosis
3783	KCNN4	HP:0000938	Osteopenia
3783	KCNN4	HP:0012236	Elevated sweat chloride
3783	KCNN4	HP:0025548	Increased mean corpuscular hemoglobin concentration
3783	KCNN4	HP:0000246	Sinusitis
3783	KCNN4	HP:0001508	Failure to thrive
3783	KCNN4	HP:0002842	Recurrent Burkholderia cepacia infections
3783	KCNN4	HP:0011042	Abnormal blood potassium concentration
3783	KCNN4	HP:0006536	Airway obstruction
3783	KCNN4	HP:0002910	Elevated hepatic transaminase
3783	KCNN4	HP:0002904	Hyperbilirubinemia
3783	KCNN4	HP:0000365	Hearing impairment
3783	KCNN4	HP:0005376	Recurrent Haemophilus influenzae infections
3783	KCNN4	HP:0001738	Exocrine pancreatic insufficiency
3783	KCNN4	HP:0030242	Portal vein thrombosis
3783	KCNN4	HP:0012431	Episodic fatigue
3783	KCNN4	HP:0001744	Splenomegaly
3783	KCNN4	HP:0001894	Thrombocytosis
3783	KCNN4	HP:0001878	Hemolytic anemia
3784	KCNQ1	HP:0008619	Bilateral sensorineural hearing impairment
3784	KCNQ1	HP:0001197	Abnormality of prenatal development or birth
3784	KCNQ1	HP:0001279	Syncope
3784	KCNQ1	HP:0001250	Seizure
3784	KCNQ1	HP:0000076	Vesicoureteral reflux
3784	KCNQ1	HP:0000028	Cryptorchidism
3784	KCNQ1	HP:0000007	Autosomal recessive inheritance
3784	KCNQ1	HP:0002667	Nephroblastoma
3784	KCNQ1	HP:0000006	Autosomal dominant inheritance
3784	KCNQ1	HP:0001305	Dandy-Walker malformation
3784	KCNQ1	HP:0000158	Macroglossia
3784	KCNQ1	HP:0000150	Gonadoblastoma
3784	KCNQ1	HP:0500018	Abnormal cardiac exercise stress test
3784	KCNQ1	HP:0006277	Pancreatic hyperplasia
3784	KCNQ1	HP:0000121	Nephrocalcinosis
3784	KCNQ1	HP:0000105	Enlarged kidney
3784	KCNQ1	HP:0030973	Postexertional symptom exacerbation
3784	KCNQ1	HP:0011800	Midface retrusion
3784	KCNQ1	HP:0008186	Adrenocortical cytomegaly
3784	KCNQ1	HP:0004757	Paroxysmal atrial fibrillation
3784	KCNQ1	HP:0004754	Permanent atrial fibrillation
3784	KCNQ1	HP:0003596	Middle age onset
3784	KCNQ1	HP:0003577	Congenital onset
3784	KCNQ1	HP:0002240	Hepatomegaly
3784	KCNQ1	HP:0001052	Nevus flammeus
3784	KCNQ1	HP:0008523	Posterior helix pit
3784	KCNQ1	HP:0008527	Congenital sensorineural hearing impairment
3784	KCNQ1	HP:0032165	Placental mesenchymal dysplasia
3784	KCNQ1	HP:0003621	Juvenile onset
3784	KCNQ1	HP:0007185	Loss of consciousness
3784	KCNQ1	HP:0001962	Palpitations
3784	KCNQ1	HP:0001998	Neonatal hypoglycemia
3784	KCNQ1	HP:0004308	Ventricular arrhythmia
3784	KCNQ1	HP:0005616	Accelerated skeletal maturation
3784	KCNQ1	HP:0000803	Renal cortical cysts
3784	KCNQ1	HP:0011476	Profound sensorineural hearing impairment
3784	KCNQ1	HP:0011463	Childhood onset
3784	KCNQ1	HP:0011462	Young adult onset
3784	KCNQ1	HP:0000787	Nephrolithiasis
3784	KCNQ1	HP:0003247	Overgrowth of external genitalia
3784	KCNQ1	HP:0011675	Arrhythmia
3784	KCNQ1	HP:0000280	Coarse facial features
3784	KCNQ1	HP:0000269	Prominent occiput
3784	KCNQ1	HP:0005135	Abnormal T-wave
3784	KCNQ1	HP:0005110	Atrial fibrillation
3784	KCNQ1	HP:0012232	Shortened QT interval
3784	KCNQ1	HP:0000239	Large fontanelles
3784	KCNQ1	HP:0002884	Hepatoblastoma
3784	KCNQ1	HP:0001548	Overgrowth
3784	KCNQ1	HP:0001528	Hemihypertrophy
3784	KCNQ1	HP:0001540	Diastasis recti
3784	KCNQ1	HP:0001539	Omphalocele
3784	KCNQ1	HP:0005184	Prolonged QTc interval
3784	KCNQ1	HP:0002900	Hypokalemia
3784	KCNQ1	HP:0000365	Hearing impairment
3784	KCNQ1	HP:0000364	Hearing abnormality
3784	KCNQ1	HP:0001688	Sinus bradycardia
3784	KCNQ1	HP:0012332	Abnormal autonomic nervous system physiology
3784	KCNQ1	HP:0001664	Torsade de pointes
3784	KCNQ1	HP:0001678	Atrioventricular block
3784	KCNQ1	HP:0001645	Sudden cardiac death
3784	KCNQ1	HP:0001663	Ventricular fibrillation
3784	KCNQ1	HP:0001662	Bradycardia
3784	KCNQ1	HP:0001657	Prolonged QT interval
3784	KCNQ1	HP:0001640	Cardiomegaly
3784	KCNQ1	HP:0001638	Cardiomyopathy
3784	KCNQ1	HP:0001727	Thromboembolic stroke
3784	KCNQ1	HP:0006744	Adrenocortical carcinoma
3784	KCNQ1	HP:0005487	Prominent metopic ridge
3784	KCNQ1	HP:0000520	Proptosis
3784	KCNQ1	HP:0001891	Iron deficiency anemia
3785	KCNQ2	HP:0002453	Abnormal globus pallidus morphology
3785	KCNQ2	HP:0010851	EEG with burst suppression
3785	KCNQ2	HP:0002411	Myokymia
3785	KCNQ2	HP:0001276	Hypertonia
3785	KCNQ2	HP:0001270	Motor delay
3785	KCNQ2	HP:0001285	Spastic tetraparesis
3785	KCNQ2	HP:0001250	Seizure
3785	KCNQ2	HP:0001252	Hypotonia
3785	KCNQ2	HP:0001249	Intellectual disability
3785	KCNQ2	HP:0001263	Global developmental delay
3785	KCNQ2	HP:0410263	Brain imaging abnormality
3785	KCNQ2	HP:0007359	Focal-onset seizure
3785	KCNQ2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
3785	KCNQ2	HP:0002540	Inability to walk
3785	KCNQ2	HP:0002521	Hypsarrhythmia
3785	KCNQ2	HP:0002500	Abnormal cerebral white matter morphology
3785	KCNQ2	HP:0001332	Dystonia
3785	KCNQ2	HP:0000006	Autosomal dominant inheritance
3785	KCNQ2	HP:0008936	Axial hypotonia
3785	KCNQ2	HP:0032556	Circumoral cyanosis
3785	KCNQ2	HP:0002020	Gastroesophageal reflux
3785	KCNQ2	HP:0002069	Bilateral tonic-clonic seizure
3785	KCNQ2	HP:0002079	Hypoplasia of the corpus callosum
3785	KCNQ2	HP:0002059	Cerebral atrophy
3785	KCNQ2	HP:0002121	Generalized non-motor (absence) seizure
3785	KCNQ2	HP:0002133	Status epilepticus
3785	KCNQ2	HP:0002104	Apnea
3785	KCNQ2	HP:0002181	Cerebral edema
3785	KCNQ2	HP:0002169	Clonus
3785	KCNQ2	HP:0002266	Focal clonic seizure
3785	KCNQ2	HP:0003593	Infantile onset
3785	KCNQ2	HP:0200134	Epileptic encephalopathy
3785	KCNQ2	HP:0007015	Poor gross motor coordination
3785	KCNQ2	HP:0011968	Feeding difficulties
3785	KCNQ2	HP:0002384	Focal impaired awareness seizure
3785	KCNQ2	HP:0002361	Psychomotor deterioration
3785	KCNQ2	HP:0001041	Facial erythema
3785	KCNQ2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
3785	KCNQ2	HP:0002372	Normal interictal EEG
3785	KCNQ2	HP:0010818	Generalized tonic seizure
3785	KCNQ2	HP:0003623	Neonatal onset
3785	KCNQ2	HP:0012736	Profound global developmental delay
3785	KCNQ2	HP:0011468	Facial tics
3785	KCNQ2	HP:0045084	Limb myoclonus
3785	KCNQ2	HP:0000980	Pallor
3785	KCNQ2	HP:0000961	Cyanosis
3785	KCNQ2	HP:0011097	Epileptic spasm
3785	KCNQ2	HP:0031535	Increased theta frequency activity in EEG
3785	KCNQ2	HP:0011182	Interictal epileptiform activity
3785	KCNQ2	HP:0011188	Focal EEG discharges with secondary generalization
3785	KCNQ2	HP:0011169	Generalized clonic seizure
3785	KCNQ2	HP:0011171	Simple febrile seizure
3785	KCNQ2	HP:0011167	Focal tonic seizure
3785	KCNQ2	HP:0011154	Focal autonomic seizure
3785	KCNQ2	HP:0011153	Focal motor seizure
3786	KCNQ3	HP:0001276	Hypertonia
3786	KCNQ3	HP:0001249	Intellectual disability
3786	KCNQ3	HP:0001263	Global developmental delay
3786	KCNQ3	HP:0410263	Brain imaging abnormality
3786	KCNQ3	HP:0007359	Focal-onset seizure
3786	KCNQ3	HP:0007334	Bilateral tonic-clonic seizure with focal onset
3786	KCNQ3	HP:0000006	Autosomal dominant inheritance
3786	KCNQ3	HP:0000153	Abnormality of the mouth
3786	KCNQ3	HP:0008936	Axial hypotonia
3786	KCNQ3	HP:0032556	Circumoral cyanosis
3786	KCNQ3	HP:0002020	Gastroesophageal reflux
3786	KCNQ3	HP:0002069	Bilateral tonic-clonic seizure
3786	KCNQ3	HP:0002121	Generalized non-motor (absence) seizure
3786	KCNQ3	HP:0002133	Status epilepticus
3786	KCNQ3	HP:0002104	Apnea
3786	KCNQ3	HP:0002197	Generalized-onset seizure
3786	KCNQ3	HP:0002169	Clonus
3786	KCNQ3	HP:0002266	Focal clonic seizure
3786	KCNQ3	HP:0007000	Morning myoclonic jerks
3786	KCNQ3	HP:0002384	Focal impaired awareness seizure
3786	KCNQ3	HP:0002392	EEG with polyspike wave complexes
3786	KCNQ3	HP:0002361	Psychomotor deterioration
3786	KCNQ3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
3786	KCNQ3	HP:0002372	Normal interictal EEG
3786	KCNQ3	HP:0007207	Photosensitive tonic-clonic seizure
3786	KCNQ3	HP:0010818	Generalized tonic seizure
3786	KCNQ3	HP:0000718	Aggressive behavior
3786	KCNQ3	HP:0011468	Facial tics
3786	KCNQ3	HP:0045084	Limb myoclonus
3786	KCNQ3	HP:0000961	Cyanosis
3786	KCNQ3	HP:0031535	Increased theta frequency activity in EEG
3786	KCNQ3	HP:0011182	Interictal epileptiform activity
3786	KCNQ3	HP:0011188	Focal EEG discharges with secondary generalization
3786	KCNQ3	HP:0011169	Generalized clonic seizure
3786	KCNQ3	HP:0011171	Simple febrile seizure
3786	KCNQ3	HP:0011167	Focal tonic seizure
3786	KCNQ3	HP:0011154	Focal autonomic seizure
3786	KCNQ3	HP:0011153	Focal motor seizure
3786	KCNQ3	HP:0000496	Abnormality of eye movement
3791	KDR	HP:0001156	Brachydactyly
3791	KDR	HP:0009891	Underdeveloped supraorbital ridges
3791	KDR	HP:0000028	Cryptorchidism
3791	KDR	HP:0000006	Autosomal dominant inheritance
3791	KDR	HP:0003593	Infantile onset
3791	KDR	HP:0004209	Clinodactyly of the 5th finger
3791	KDR	HP:0004467	Preauricular pit
3791	KDR	HP:0000268	Dolichocephaly
3791	KDR	HP:0005105	Abnormal nasal morphology
3791	KDR	HP:0000233	Thin vermilion border
3791	KDR	HP:0001511	Intrauterine growth retardation
3791	KDR	HP:0000337	Broad forehead
3791	KDR	HP:0001636	Tetralogy of Fallot
3791	KDR	HP:0005306	Capillary hemangioma
3791	KDR	HP:0000520	Proptosis
3795	KHK	HP:0010969	Abnormality of glycolipid metabolism
3795	KHK	HP:0000007	Autosomal recessive inheritance
3795	KHK	HP:0031979	Abnormal urine carbohydrate level
3795	KHK	HP:0003074	Hyperglycemia
3795	KHK	HP:0012379	Abnormal circulating enzyme concentration or activity
3795	KHK	HP:0011033	Impairment of fructose metabolism
3795	KHK	HP:0030272	Abnormal erythrocyte enzyme level
3796	KIF2A	HP:0001250	Seizure
3796	KIF2A	HP:0001263	Global developmental delay
3796	KIF2A	HP:0002539	Cortical dysplasia
3796	KIF2A	HP:0002510	Spastic tetraplegia
3796	KIF2A	HP:0033725	Thin corpus callosum
3796	KIF2A	HP:0032409	Subcortical band heterotopia
3796	KIF2A	HP:0001339	Lissencephaly
3796	KIF2A	HP:0000006	Autosomal dominant inheritance
3796	KIF2A	HP:0001302	Pachygyria
3796	KIF2A	HP:0002079	Hypoplasia of the corpus callosum
3796	KIF2A	HP:0002282	Gray matter heterotopia
3796	KIF2A	HP:0031882	Agyria
3796	KIF2A	HP:0000639	Nystagmus
3796	KIF2A	HP:0000252	Microcephaly
3796	KIF2A	HP:0001511	Intrauterine growth retardation
3798	KIF5A	HP:0002493	Upper motor neuron dysfunction
3798	KIF5A	HP:0020221	Clonic seizure
3798	KIF5A	HP:0001252	Hypotonia
3798	KIF5A	HP:0001251	Ataxia
3798	KIF5A	HP:0001263	Global developmental delay
3798	KIF5A	HP:0001258	Spastic paraplegia
3798	KIF5A	HP:0007350	Hyperreflexia in upper limbs
3798	KIF5A	HP:0007354	Amyotrophic lateral sclerosis
3798	KIF5A	HP:0007340	Lower limb muscle weakness
3798	KIF5A	HP:0003829	Typified by incomplete penetrance
3798	KIF5A	HP:0000020	Urinary incontinence
3798	KIF5A	HP:0031146	Impaired oral bolus formation
3798	KIF5A	HP:0000012	Urinary urgency
3798	KIF5A	HP:0000006	Autosomal dominant inheritance
3798	KIF5A	HP:0001336	Myoclonus
3798	KIF5A	HP:0001305	Dandy-Walker malformation
3798	KIF5A	HP:0002650	Scoliosis
3798	KIF5A	HP:0002619	Varicose veins
3798	KIF5A	HP:0001300	Parkinsonism
3798	KIF5A	HP:0008969	Leg muscle stiffness
3798	KIF5A	HP:0008944	Distal lower limb amyotrophy
3798	KIF5A	HP:0002033	Poor suck
3798	KIF5A	HP:0002015	Dysphagia
3798	KIF5A	HP:0100543	Cognitive impairment
3798	KIF5A	HP:0002064	Spastic gait
3798	KIF5A	HP:0002061	Lower limb spasticity
3798	KIF5A	HP:0002079	Hypoplasia of the corpus callosum
3798	KIF5A	HP:0002072	Chorea
3798	KIF5A	HP:0003477	Peripheral axonal neuropathy
3798	KIF5A	HP:0003487	Babinski sign
3798	KIF5A	HP:0003484	Upper limb muscle weakness
3798	KIF5A	HP:0002104	Apnea
3798	KIF5A	HP:0002188	Delayed CNS myelination
3798	KIF5A	HP:0002166	Impaired vibration sensation in the lower limbs
3798	KIF5A	HP:0003401	Paresthesia
3798	KIF5A	HP:0003596	Middle age onset
3798	KIF5A	HP:0003593	Infantile onset
3798	KIF5A	HP:0003577	Congenital onset
3798	KIF5A	HP:0100704	Cerebral visual impairment
3798	KIF5A	HP:0003557	Increased variability in muscle fiber diameter
3798	KIF5A	HP:0011968	Feeding difficulties
3798	KIF5A	HP:0002395	Lower limb hyperreflexia
3798	KIF5A	HP:0003676	Progressive
3798	KIF5A	HP:0002342	Intellectual disability, moderate
3798	KIF5A	HP:0007141	Sensorimotor neuropathy
3798	KIF5A	HP:0003623	Neonatal onset
3798	KIF5A	HP:0002305	Athetosis
3798	KIF5A	HP:0006895	Lower limb hypertonia
3798	KIF5A	HP:0006886	Impaired distal vibration sensation
3798	KIF5A	HP:0000666	Horizontal nystagmus
3798	KIF5A	HP:0031958	Spastic paraparetic gait
3798	KIF5A	HP:0006980	Progressive leukoencephalopathy
3798	KIF5A	HP:0006986	Upper limb spasticity
3798	KIF5A	HP:0005679	Dupuytren contracture
3798	KIF5A	HP:0011462	Young adult onset
3798	KIF5A	HP:0011449	Knee clonus
3798	KIF5A	HP:0011448	Ankle clonus
3798	KIF5A	HP:0009129	Upper limb amyotrophy
3798	KIF5A	HP:0008075	Progressive pes cavus
3798	KIF5A	HP:0000252	Microcephaly
3798	KIF5A	HP:0002839	Urinary bladder sphincter dysfunction
3798	KIF5A	HP:0002936	Distal sensory impairment
3798	KIF5A	HP:0000365	Hearing impairment
3798	KIF5A	HP:0005340	Spastic/hyperactive bladder
3798	KIF5A	HP:0001761	Pes cavus
3798	KIF5A	HP:0000510	Rod-cone dystrophy
3798	KIF5A	HP:0000508	Ptosis
3798	KIF5A	HP:0000543	Optic disc pallor
3800	KIF5C	HP:0020221	Clonic seizure
3800	KIF5C	HP:0010864	Intellectual disability, severe
3800	KIF5C	HP:0001276	Hypertonia
3800	KIF5C	HP:0001250	Seizure
3800	KIF5C	HP:0001263	Global developmental delay
3800	KIF5C	HP:0002539	Cortical dysplasia
3800	KIF5C	HP:0002510	Spastic tetraplegia
3800	KIF5C	HP:0001344	Absent speech
3800	KIF5C	HP:0000006	Autosomal dominant inheritance
3800	KIF5C	HP:0002079	Hypoplasia of the corpus callosum
3800	KIF5C	HP:0002126	Polymicrogyria
3800	KIF5C	HP:0100716	Self-injurious behavior
3800	KIF5C	HP:0200055	Small hand
3800	KIF5C	HP:0001989	Fetal akinesia sequence
3800	KIF5C	HP:0011461	Fetal onset
3800	KIF5C	HP:0002804	Arthrogryposis multiplex congenita
3800	KIF5C	HP:0000252	Microcephaly
3800	KIF5C	HP:0001511	Intrauterine growth retardation
3800	KIF5C	HP:0001773	Short foot
3800	KIF5C	HP:0005484	Secondary microcephaly
3814	KISS1	HP:0003782	Eunuchoid habitus
3814	KISS1	HP:0008734	Decreased testicular size
3814	KISS1	HP:0008724	Hypoplasia of the ovary
3814	KISS1	HP:0000044	Hypogonadotropic hypogonadism
3814	KISS1	HP:0000054	Micropenis
3814	KISS1	HP:0000026	Male hypogonadism
3814	KISS1	HP:0000028	Cryptorchidism
3814	KISS1	HP:0000027	Azoospermia
3814	KISS1	HP:0000002	Abnormality of body height
3814	KISS1	HP:0000013	Hypoplasia of the uterus
3814	KISS1	HP:0000007	Autosomal recessive inheritance
3814	KISS1	HP:0000164	Abnormality of the dentition
3814	KISS1	HP:0000175	Cleft palate
3814	KISS1	HP:0000118	Phenotypic abnormality
3814	KISS1	HP:0000134	Female hypogonadism
3814	KISS1	HP:0002761	Generalized joint laxity
3814	KISS1	HP:0002750	Delayed skeletal maturation
3814	KISS1	HP:0008197	Absence of pubertal development
3814	KISS1	HP:0008187	Absence of secondary sex characteristics
3814	KISS1	HP:0008214	Decreased serum estradiol
3814	KISS1	HP:0002231	Sparse body hair
3814	KISS1	HP:0011961	Non-obstructive azoospermia
3814	KISS1	HP:0008527	Congenital sensorineural hearing impairment
3814	KISS1	HP:0003621	Juvenile onset
3814	KISS1	HP:0000802	Impotence
3814	KISS1	HP:0000771	Gynecomastia
3814	KISS1	HP:0000739	Anxiety
3814	KISS1	HP:0000716	Depression
3814	KISS1	HP:0000786	Primary amenorrhea
3814	KISS1	HP:0003187	Breast hypoplasia
3814	KISS1	HP:0000869	Secondary amenorrhea
3814	KISS1	HP:0000823	Delayed puberty
3814	KISS1	HP:0000939	Osteoporosis
3814	KISS1	HP:0000938	Osteopenia
3814	KISS1	HP:0040171	Decreased serum testosterone concentration
3814	KISS1	HP:0030019	Increased female libido
3814	KISS1	HP:0012385	Camptodactyly
3814	KISS1	HP:0001608	Abnormality of the voice
3814	KISS1	HP:0000316	Hypertelorism
3814	KISS1	HP:0006610	Wide intermamillary distance
3814	KISS1	HP:0005280	Depressed nasal bridge
3814	KISS1	HP:0000458	Anosmia
3814	KISS1	HP:0030344	Decreased circulating luteinizing hormone level
3814	KISS1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
3815	KIT	HP:0001176	Large hands
3815	KIT	HP:0003745	Sporadic
3815	KIT	HP:0001100	Heterochromia iridis
3815	KIT	HP:0100833	Neoplasm of the small intestine
3815	KIT	HP:0001279	Syncope
3815	KIT	HP:0001252	Hypotonia
3815	KIT	HP:0001251	Ataxia
3815	KIT	HP:0001249	Intellectual disability
3815	KIT	HP:0007443	Partial albinism
3815	KIT	HP:0100845	Anaphylactic shock
3815	KIT	HP:0007400	Irregular hyperpigmentation
3815	KIT	HP:0007378	Neoplasm of the gastrointestinal tract
3815	KIT	HP:0031020	Bone marrow hypercellularity
3815	KIT	HP:0001392	Abnormality of the liver
3815	KIT	HP:0002683	Abnormal calvaria morphology
3815	KIT	HP:0000027	Azoospermia
3815	KIT	HP:0007542	Absent pigmentation of the ventral chest
3815	KIT	HP:0007544	Piebaldism
3815	KIT	HP:0002664	Neoplasm
3815	KIT	HP:0002659	Increased susceptibility to fractures
3815	KIT	HP:0002665	Lymphoma
3815	KIT	HP:0000006	Autosomal dominant inheritance
3815	KIT	HP:0002653	Bone pain
3815	KIT	HP:0002615	Hypotension
3815	KIT	HP:0025473	Hyperpigmented papule
3815	KIT	HP:0012138	Granulocytic hyperplasia
3815	KIT	HP:0031284	Flushing
3815	KIT	HP:0007583	Telangiectasia macularis eruptiva perstans
3815	KIT	HP:0006254	Elevated circulating alpha-fetoprotein concentration
3815	KIT	HP:0001428	Somatic mutation
3815	KIT	HP:0002716	Lymphadenopathy
3815	KIT	HP:0002018	Nausea
3815	KIT	HP:0002019	Constipation
3815	KIT	HP:0002017	Nausea and vomiting
3815	KIT	HP:0002027	Abdominal pain
3815	KIT	HP:0003326	Myalgia
3815	KIT	HP:0002014	Diarrhea
3815	KIT	HP:0002015	Dysphagia
3815	KIT	HP:0002013	Vomiting
3815	KIT	HP:0002086	Abnormality of the respiratory system
3815	KIT	HP:0002094	Dyspnea
3815	KIT	HP:0100585	Telangiectasia of the skin
3815	KIT	HP:0100494	Abnormal mast cell morphology
3815	KIT	HP:0011897	Neutrophilia
3815	KIT	HP:0002240	Hepatomegaly
3815	KIT	HP:0002239	Gastrointestinal hemorrhage
3815	KIT	HP:0002251	Aganglionic megacolon
3815	KIT	HP:0002227	White eyelashes
3815	KIT	HP:0002226	White eyebrow
3815	KIT	HP:0002211	White forelock
3815	KIT	HP:0100768	Choriocarcinoma
3815	KIT	HP:0200151	Cutaneous mastocytosis
3815	KIT	HP:0100723	Gastrointestinal stroma tumor
3815	KIT	HP:0100751	Esophageal neoplasm
3815	KIT	HP:0100743	Neoplasm of the rectum
3815	KIT	HP:0011971	Dermatographic urticaria
3815	KIT	HP:0004808	Acute myeloid leukemia
3815	KIT	HP:0001053	Hypopigmented skin patches
3815	KIT	HP:0001067	Neurofibromas
3815	KIT	HP:0001034	Hypermelanotic macule
3815	KIT	HP:0001025	Urticaria
3815	KIT	HP:0001019	Erythroderma
3815	KIT	HP:0002315	Headache
3815	KIT	HP:0200036	Skin nodule
3815	KIT	HP:0200035	Skin plaque
3815	KIT	HP:0025081	Darier's sign
3815	KIT	HP:0100665	Angioedema
3815	KIT	HP:0001072	Thickened skin
3815	KIT	HP:0200041	Skin erosion
3815	KIT	HP:0010783	Erythema
3815	KIT	HP:0009792	Teratoma
3815	KIT	HP:0005599	Hypopigmentation of hair
3815	KIT	HP:0005587	Profuse pigmented skin lesions
3815	KIT	HP:0031807	Increased basophil count
3815	KIT	HP:0005550	Chronic lymphatic leukemia
3815	KIT	HP:0005547	Myeloproliferative disorder
3815	KIT	HP:0001974	Leukocytosis
3815	KIT	HP:0001945	Fever
3815	KIT	HP:0001903	Anemia
3815	KIT	HP:0000664	Synophrys
3815	KIT	HP:0004398	Peptic ulcer
3815	KIT	HP:0031901	Elevated total serum tryptase
3815	KIT	HP:0004377	Hematological neoplasm
3815	KIT	HP:0012733	Macule
3815	KIT	HP:0000980	Pallor
3815	KIT	HP:0100273	Neoplasm of the colon
3815	KIT	HP:0000989	Pruritus
3815	KIT	HP:0000988	Skin rash
3815	KIT	HP:0000953	Hyperpigmentation of the skin
3815	KIT	HP:0000969	Edema
3815	KIT	HP:0000939	Osteoporosis
3815	KIT	HP:0100242	Sarcoma
3815	KIT	HP:0008066	Abnormal blistering of the skin
3815	KIT	HP:0008069	Neoplasm of the skin
3815	KIT	HP:0040186	Maculopapular exanthema
3815	KIT	HP:0040189	Scaling skin
3815	KIT	HP:0002829	Arthralgia
3815	KIT	HP:0002898	Embryonal neoplasm
3815	KIT	HP:0000252	Microcephaly
3815	KIT	HP:0025533	Peau d'orange
3815	KIT	HP:0002863	Myelodysplasia
3815	KIT	HP:0012378	Fatigue
3815	KIT	HP:0011034	Amyloidosis
3815	KIT	HP:0005214	Intestinal obstruction
3815	KIT	HP:0006543	Cardiorespiratory arrest
3815	KIT	HP:0000365	Hearing impairment
3815	KIT	HP:0000343	Long philtrum
3815	KIT	HP:0012324	Myeloid leukemia
3815	KIT	HP:0012325	Chronic myelomonocytic leukemia
3815	KIT	HP:0001649	Tachycardia
3815	KIT	HP:0001744	Splenomegaly
3815	KIT	HP:0000431	Wide nasal bridge
3815	KIT	HP:0006753	Neoplasm of the stomach
3815	KIT	HP:0006775	Multiple myeloma
3815	KIT	HP:0001824	Weight loss
3815	KIT	HP:0000598	Abnormality of the ear
3815	KIT	HP:0030350	Erythematous papule
3815	KIT	HP:0001895	Normochromic anemia
3815	KIT	HP:0001897	Normocytic anemia
3815	KIT	HP:0001880	Eosinophilia
3815	KIT	HP:0001873	Thrombocytopenia
3818	KLKB1	HP:0000007	Autosomal recessive inheritance
3818	KLKB1	HP:0003584	Late onset
3818	KLKB1	HP:0003645	Prolonged partial thromboplastin time
3818	KLKB1	HP:0034371	Reduced circulating prekallikrein concentration
3818	KLKB1	HP:0001892	Abnormal bleeding
3827	KNG1	HP:0007514	Edema of the dorsum of hands
3827	KNG1	HP:0000007	Autosomal recessive inheritance
3827	KNG1	HP:0000006	Autosomal dominant inheritance
3827	KNG1	HP:0031244	Swollen lip
3827	KNG1	HP:0003596	Middle age onset
3827	KNG1	HP:0003645	Prolonged partial thromboplastin time
3827	KNG1	HP:0100665	Angioedema
3827	KNG1	HP:0005527	Reduced kininogen activity
3827	KNG1	HP:0011462	Young adult onset
3827	KNG1	HP:0000282	Facial edema
3832	KIF11	HP:0009891	Underdeveloped supraorbital ridges
3832	KIF11	HP:0009879	Simplified gyral pattern
3832	KIF11	HP:0001276	Hypertonia
3832	KIF11	HP:0001256	Intellectual disability, mild
3832	KIF11	HP:0001250	Seizure
3832	KIF11	HP:0001252	Hypotonia
3832	KIF11	HP:0001249	Intellectual disability
3832	KIF11	HP:0001263	Global developmental delay
3832	KIF11	HP:0001257	Spasticity
3832	KIF11	HP:0003828	Variable expressivity
3832	KIF11	HP:0003829	Typified by incomplete penetrance
3832	KIF11	HP:0001328	Specific learning disability
3832	KIF11	HP:0002665	Lymphoma
3832	KIF11	HP:0000006	Autosomal dominant inheritance
3832	KIF11	HP:0000179	Thick lower lip vermilion
3832	KIF11	HP:0001482	Subcutaneous nodule
3832	KIF11	HP:0007663	Reduced visual acuity
3832	KIF11	HP:0500041	Myopic astigmatism
3832	KIF11	HP:0002002	Deep philtrum
3832	KIF11	HP:0002063	Rigidity
3832	KIF11	HP:0002133	Status epilepticus
3832	KIF11	HP:0003552	Muscle stiffness
3832	KIF11	HP:0002202	Pleural effusion
3832	KIF11	HP:0100758	Gangrene
3832	KIF11	HP:0007018	Attention deficit hyperactivity disorder
3832	KIF11	HP:0003510	Severe short stature
3832	KIF11	HP:0008388	Abnormal toenail morphology
3832	KIF11	HP:0001055	Erysipelas
3832	KIF11	HP:0002360	Sleep disturbance
3832	KIF11	HP:0001004	Lymphedema
3832	KIF11	HP:0100644	Melanonychia
3832	KIF11	HP:0100658	Cellulitis
3832	KIF11	HP:0001072	Thickened skin
3832	KIF11	HP:0200042	Skin ulcer
3832	KIF11	HP:0004936	Venous thrombosis
3832	KIF11	HP:0000639	Nystagmus
3832	KIF11	HP:0000646	Amblyopia
3832	KIF11	HP:0000648	Optic atrophy
3832	KIF11	HP:0000618	Blindness
3832	KIF11	HP:0000614	Abnormal nasolacrimal system morphology
3832	KIF11	HP:0001909	Leukemia
3832	KIF11	HP:0000718	Aggressive behavior
3832	KIF11	HP:0000713	Agitation
3832	KIF11	HP:0010310	Chylothorax
3832	KIF11	HP:0000958	Dry skin
3832	KIF11	HP:0000969	Edema
3832	KIF11	HP:0008052	Retinal fold
3832	KIF11	HP:0040189	Scaling skin
3832	KIF11	HP:0007703	Abnormality of retinal pigmentation
3832	KIF11	HP:0000286	Epicanthus
3832	KIF11	HP:0000293	Full cheeks
3832	KIF11	HP:0001595	Abnormal hair morphology
3832	KIF11	HP:0007731	Chorioretinal dysplasia
3832	KIF11	HP:0000252	Microcephaly
3832	KIF11	HP:0000219	Thin upper lip vermilion
3832	KIF11	HP:0007858	Chorioretinal lacunae
3832	KIF11	HP:0000340	Sloping forehead
3832	KIF11	HP:0000343	Long philtrum
3832	KIF11	HP:0032794	Myoclonic seizure
3832	KIF11	HP:0000307	Pointed chin
3832	KIF11	HP:0001631	Atrial septal defect
3832	KIF11	HP:0000303	Mandibular prognathia
3832	KIF11	HP:0007957	Corneal opacity
3832	KIF11	HP:0012490	Panniculitis
3832	KIF11	HP:0000499	Abnormal eyelash morphology
3832	KIF11	HP:0007973	Retinal dysplasia
3832	KIF11	HP:0005280	Depressed nasal bridge
3832	KIF11	HP:0000483	Astigmatism
3832	KIF11	HP:0000482	Microcornea
3832	KIF11	HP:0012471	Thick vermilion border
3832	KIF11	HP:0000478	Abnormality of the eye
3832	KIF11	HP:0000494	Downslanted palpebral fissures
3832	KIF11	HP:0000492	Abnormal eyelid morphology
3832	KIF11	HP:0000488	Retinopathy
3832	KIF11	HP:0000463	Anteverted nares
3832	KIF11	HP:0000455	Broad nasal tip
3832	KIF11	HP:0000445	Wide nose
3832	KIF11	HP:0000411	Protruding ear
3832	KIF11	HP:0000431	Wide nasal bridge
3832	KIF11	HP:0005469	Flat occiput
3832	KIF11	HP:0000518	Cataract
3832	KIF11	HP:0000528	Anophthalmia
3832	KIF11	HP:0001820	Leukonychia
3832	KIF11	HP:0000508	Ptosis
3832	KIF11	HP:0000504	Abnormality of vision
3832	KIF11	HP:0000501	Glaucoma
3832	KIF11	HP:0000582	Upslanted palpebral fissure
3832	KIF11	HP:0000587	Abnormal optic nerve morphology
3832	KIF11	HP:0011220	Prominent forehead
3832	KIF11	HP:0000556	Retinal dystrophy
3832	KIF11	HP:0000572	Visual loss
3832	KIF11	HP:0000568	Microphthalmia
3832	KIF11	HP:0000541	Retinal detachment
3832	KIF11	HP:0000540	Hypermetropia
3832	KIF11	HP:0000545	Myopia
3835	KIF22	HP:0001290	Generalized hypotonia
3835	KIF22	HP:0001250	Seizure
3835	KIF22	HP:0001252	Hypotonia
3835	KIF22	HP:0001238	Slender finger
3835	KIF22	HP:0008755	Laryngotracheomalacia
3835	KIF22	HP:0006014	Abnormally shaped carpal bones
3835	KIF22	HP:0006016	Delayed phalangeal epiphyseal ossification
3835	KIF22	HP:0001374	Congenital hip dislocation
3835	KIF22	HP:0001388	Joint laxity
3835	KIF22	HP:0006236	Slender metacarpals
3835	KIF22	HP:0008857	Neonatal short-trunk short stature
3835	KIF22	HP:0012095	Multiple joint dislocation
3835	KIF22	HP:0008819	Narrow femoral neck
3835	KIF22	HP:0006127	Long proximal phalanx of finger
3835	KIF22	HP:0002663	Delayed epiphyseal ossification
3835	KIF22	HP:0002656	Epiphyseal dysplasia
3835	KIF22	HP:0000006	Autosomal dominant inheritance
3835	KIF22	HP:0002652	Skeletal dysplasia
3835	KIF22	HP:0002650	Scoliosis
3835	KIF22	HP:0002651	Spondyloepimetaphyseal dysplasia
3835	KIF22	HP:0001498	Carpal bone hypoplasia
3835	KIF22	HP:0005008	Large joint dislocations
3835	KIF22	HP:0002761	Generalized joint laxity
3835	KIF22	HP:0002751	Kyphoscoliosis
3835	KIF22	HP:0003301	Irregular vertebral endplates
3835	KIF22	HP:0011800	Midface retrusion
3835	KIF22	HP:0003370	Flat capital femoral epiphysis
3835	KIF22	HP:0010585	Small epiphyses
3835	KIF22	HP:0010582	Irregular epiphyses
3835	KIF22	HP:0004875	Neonatal inspiratory stridor
3835	KIF22	HP:0010674	Abnormality of the curvature of the vertebral column
3835	KIF22	HP:0001058	Poor wound healing
3835	KIF22	HP:0009836	Broad distal phalanx of finger
3835	KIF22	HP:0009815	Aplasia/hypoplasia of the extremities
3835	KIF22	HP:0008457	Caudal interpedicular narrowing
3835	KIF22	HP:0100168	Fragmented epiphyses
3835	KIF22	HP:0004322	Short stature
3835	KIF22	HP:0005619	Thoracolumbar kyphosis
3835	KIF22	HP:0003071	Flattened epiphysis
3835	KIF22	HP:0003088	Premature osteoarthritis
3835	KIF22	HP:0003083	Dislocated radial head
3835	KIF22	HP:0003048	Radial head subluxation
3835	KIF22	HP:0003015	Flared metaphysis
3835	KIF22	HP:0003025	Metaphyseal irregularity
3835	KIF22	HP:0000926	Platyspondyly
3835	KIF22	HP:0003090	Hypoplasia of the capital femoral epiphysis
3835	KIF22	HP:0040064	Abnormality of limbs
3835	KIF22	HP:0010301	Spinal dysraphism
3835	KIF22	HP:0000977	Soft skin
3835	KIF22	HP:0012297	Slender proximal phalanx of finger
3835	KIF22	HP:0012299	Long distal phalanx of finger
3835	KIF22	HP:0012296	Slender distal phalanx of finger
3835	KIF22	HP:0000272	Malar flattening
3835	KIF22	HP:0006454	Delayed patellar ossification
3835	KIF22	HP:0005121	Posterior scalloping of vertebral bodies
3835	KIF22	HP:0005092	Streaky metaphyseal sclerosis
3835	KIF22	HP:0002827	Hip dislocation
3835	KIF22	HP:0002808	Kyphosis
3835	KIF22	HP:0002857	Genu valgum
3835	KIF22	HP:0031367	Metaphyseal striations
3835	KIF22	HP:0030043	Hip subluxation
3835	KIF22	HP:0001518	Small for gestational age
3835	KIF22	HP:0012368	Flat face
3835	KIF22	HP:0006536	Airway obstruction
3835	KIF22	HP:0001602	Laryngeal stenosis
3835	KIF22	HP:0002987	Elbow flexion contracture
3835	KIF22	HP:0002970	Genu varum
3835	KIF22	HP:0000486	Strabismus
3835	KIF22	HP:0001832	Abnormal metatarsal morphology
3839	KPNA3	HP:0010871	Sensory ataxia
3839	KPNA3	HP:0001270	Motor delay
3839	KPNA3	HP:0001250	Seizure
3839	KPNA3	HP:0007350	Hyperreflexia in upper limbs
3839	KPNA3	HP:0007340	Lower limb muscle weakness
3839	KPNA3	HP:0001347	Hyperreflexia
3839	KPNA3	HP:0033725	Thin corpus callosum
3839	KPNA3	HP:0000012	Urinary urgency
3839	KPNA3	HP:0000006	Autosomal dominant inheritance
3839	KPNA3	HP:0001321	Cerebellar hypoplasia
3839	KPNA3	HP:0100561	Spinal cord lesion
3839	KPNA3	HP:0003394	Muscle spasm
3839	KPNA3	HP:0002064	Spastic gait
3839	KPNA3	HP:0002061	Lower limb spasticity
3839	KPNA3	HP:0003487	Babinski sign
3839	KPNA3	HP:0002119	Ventriculomegaly
3839	KPNA3	HP:0003457	EMG abnormality
3839	KPNA3	HP:0002169	Clonus
3839	KPNA3	HP:0002166	Impaired vibration sensation in the lower limbs
3839	KPNA3	HP:0003593	Infantile onset
3839	KPNA3	HP:0003552	Muscle stiffness
3839	KPNA3	HP:0007020	Progressive spastic paraplegia
3839	KPNA3	HP:0007018	Attention deficit hyperactivity disorder
3839	KPNA3	HP:0007002	Motor axonal neuropathy
3839	KPNA3	HP:0002395	Lower limb hyperreflexia
3839	KPNA3	HP:0002365	Hypoplasia of the brainstem
3839	KPNA3	HP:0003676	Progressive
3839	KPNA3	HP:0002335	Agenesis of cerebellar vermis
3839	KPNA3	HP:0002355	Difficulty walking
3839	KPNA3	HP:0002317	Unsteady gait
3839	KPNA3	HP:0002314	Degeneration of the lateral corticospinal tracts
3839	KPNA3	HP:0031936	Delayed ability to walk
3839	KPNA3	HP:0000750	Delayed speech and language development
3839	KPNA3	HP:0011448	Ankle clonus
3839	KPNA3	HP:0012898	Abnormal lower-limb motor evoked potentials
3839	KPNA3	HP:0008075	Progressive pes cavus
3839	KPNA3	HP:0012378	Fatigue
3839	KPNA3	HP:0002936	Distal sensory impairment
3839	KPNA3	HP:0002921	Abnormal cerebrospinal fluid morphology
3845	KRAS	HP:0001156	Brachydactyly
3845	KRAS	HP:0001167	Abnormal finger morphology
3845	KRAS	HP:0100955	Giant cell granuloma of mandible
3845	KRAS	HP:0001140	Limbal dermoid
3845	KRAS	HP:0001123	Visual field defect
3845	KRAS	HP:0002445	Tetraplegia
3845	KRAS	HP:0007256	Abnormal pyramidal sign
3845	KRAS	HP:0009891	Underdeveloped supraorbital ridges
3845	KRAS	HP:0003745	Sporadic
3845	KRAS	HP:0003764	Nevus
3845	KRAS	HP:0002408	Cerebral arteriovenous malformation
3845	KRAS	HP:0001276	Hypertonia
3845	KRAS	HP:0001274	Agenesis of corpus callosum
3845	KRAS	HP:0100827	Lymphocytosis
3845	KRAS	HP:0001269	Hemiparesis
3845	KRAS	HP:0001288	Gait disturbance
3845	KRAS	HP:0100835	Benign neoplasm of the central nervous system
3845	KRAS	HP:0001250	Seizure
3845	KRAS	HP:0001252	Hypotonia
3845	KRAS	HP:0001249	Intellectual disability
3845	KRAS	HP:0001260	Dysarthria
3845	KRAS	HP:0001263	Global developmental delay
3845	KRAS	HP:0001257	Spasticity
3845	KRAS	HP:0002558	Supernumerary nipple
3845	KRAS	HP:0007440	Generalized hyperpigmentation
3845	KRAS	HP:0008749	Laryngeal hypoplasia
3845	KRAS	HP:0100840	Aplasia/Hypoplasia of the eyebrow
3845	KRAS	HP:0007400	Irregular hyperpigmentation
3845	KRAS	HP:0007392	Excessive wrinkled skin
3845	KRAS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
3845	KRAS	HP:0007360	Aplasia/Hypoplasia of the cerebellum
3845	KRAS	HP:0002516	Increased intracranial pressure
3845	KRAS	HP:0002514	Cerebral calcification
3845	KRAS	HP:0000085	Horseshoe kidney
3845	KRAS	HP:0012062	Bone cyst
3845	KRAS	HP:0000078	Abnormality of the genital system
3845	KRAS	HP:0000069	Abnormality of the ureter
3845	KRAS	HP:0000044	Hypogonadotropic hypogonadism
3845	KRAS	HP:0001371	Flexion contracture
3845	KRAS	HP:0000036	Abnormal penis morphology
3845	KRAS	HP:0000039	Epispadias
3845	KRAS	HP:0000047	Hypospadias
3845	KRAS	HP:0000014	Abnormality of the bladder
3845	KRAS	HP:0025318	Ovarian carcinoma
3845	KRAS	HP:0001347	Hyperreflexia
3845	KRAS	HP:0001357	Plagiocephaly
3845	KRAS	HP:0000028	Cryptorchidism
3845	KRAS	HP:0007565	Multiple cafe-au-lait spots
3845	KRAS	HP:0008872	Feeding difficulties in infancy
3845	KRAS	HP:0006191	Deep palmar crease
3845	KRAS	HP:0007477	Abnormal dermatoglyphics
3845	KRAS	HP:0001331	Absent septum pellucidum
3845	KRAS	HP:0001324	Muscle weakness
3845	KRAS	HP:0002671	Basal cell carcinoma
3845	KRAS	HP:0002665	Lymphoma
3845	KRAS	HP:0000006	Autosomal dominant inheritance
3845	KRAS	HP:0001305	Dandy-Walker malformation
3845	KRAS	HP:0002652	Skeletal dysplasia
3845	KRAS	HP:0002650	Scoliosis
3845	KRAS	HP:0001315	Reduced tendon reflexes
3845	KRAS	HP:0012174	Glioblastoma multiforme
3845	KRAS	HP:0000179	Thick lower lip vermilion
3845	KRAS	HP:0012157	Subcortical cerebral atrophy
3845	KRAS	HP:0000176	Submucous cleft hard palate
3845	KRAS	HP:0012126	Stomach cancer
3845	KRAS	HP:0002797	Osteolysis
3845	KRAS	HP:0001482	Subcutaneous nodule
3845	KRAS	HP:0410067	Increased level of L-fucose in urine
3845	KRAS	HP:0007572	Hyperpigmented streaks
3845	KRAS	HP:0000126	Hydronephrosis
3845	KRAS	HP:0002763	Abnormal cartilage morphology
3845	KRAS	HP:0002757	Recurrent fractures
3845	KRAS	HP:0001428	Somatic mutation
3845	KRAS	HP:0001442	Somatic mosaicism
3845	KRAS	HP:0001433	Hepatosplenomegaly
3845	KRAS	HP:0002731	Decreased lymphocyte apoptosis
3845	KRAS	HP:0001402	Hepatocellular carcinoma
3845	KRAS	HP:0002751	Kyphoscoliosis
3845	KRAS	HP:0002750	Delayed skeletal maturation
3845	KRAS	HP:0002719	Recurrent infections
3845	KRAS	HP:0002716	Lymphadenopathy
3845	KRAS	HP:0002729	Follicular hyperplasia
3845	KRAS	HP:0002024	Malabsorption
3845	KRAS	HP:0002019	Constipation
3845	KRAS	HP:0002017	Nausea and vomiting
3845	KRAS	HP:0002027	Abdominal pain
3845	KRAS	HP:0002007	Frontal bossing
3845	KRAS	HP:0011800	Midface retrusion
3845	KRAS	HP:0002092	Pulmonary arterial hypertension
3845	KRAS	HP:0100555	Asymmetric growth
3845	KRAS	HP:0100559	Lower limb asymmetry
3845	KRAS	HP:0002063	Rigidity
3845	KRAS	HP:0002076	Migraine
3845	KRAS	HP:0002039	Anorexia
3845	KRAS	HP:0002059	Cerebral atrophy
3845	KRAS	HP:0100571	Cardiac diverticulum
3845	KRAS	HP:0100576	Amaurosis fugax
3845	KRAS	HP:0100592	Peritoneal abscess
3845	KRAS	HP:0003477	Peripheral axonal neuropathy
3845	KRAS	HP:0003470	Paralysis
3845	KRAS	HP:0002120	Cerebral cortical atrophy
3845	KRAS	HP:0002119	Ventriculomegaly
3845	KRAS	HP:0002132	Porencephalic cyst
3845	KRAS	HP:0003422	Vertebral segmentation defect
3845	KRAS	HP:0003418	Back pain
3845	KRAS	HP:0002167	Abnormality of speech or vocalization
3845	KRAS	HP:0002162	Low posterior hairline
3845	KRAS	HP:0011869	Abnormal platelet function
3845	KRAS	HP:0010529	Echolalia
3845	KRAS	HP:0010526	Dysgraphia
3845	KRAS	HP:0010524	Agnosia
3845	KRAS	HP:0003401	Paresthesia
3845	KRAS	HP:0003577	Congenital onset
3845	KRAS	HP:0002240	Hepatomegaly
3845	KRAS	HP:0100702	Arachnoid cyst
3845	KRAS	HP:0002239	Gastrointestinal hemorrhage
3845	KRAS	HP:0002254	Intermittent diarrhea
3845	KRAS	HP:0003581	Adult onset
3845	KRAS	HP:0002251	Aganglionic megacolon
3845	KRAS	HP:0002223	Absent eyebrow
3845	KRAS	HP:0003552	Muscle stiffness
3845	KRAS	HP:0200102	Sparse or absent eyelashes
3845	KRAS	HP:0002217	Slow-growing hair
3845	KRAS	HP:0002212	Curly hair
3845	KRAS	HP:0002213	Fine hair
3845	KRAS	HP:0002208	Coarse hair
3845	KRAS	HP:0002205	Recurrent respiratory infections
3845	KRAS	HP:0100763	Abnormality of the lymphatic system
3845	KRAS	HP:0010702	Increased circulating antibody level
3845	KRAS	HP:0009720	Adenoma sebaceum
3845	KRAS	HP:0009725	Bladder neoplasm
3845	KRAS	HP:0100743	Neoplasm of the rectum
3845	KRAS	HP:0002299	Brittle hair
3845	KRAS	HP:0100761	Visceral angiomatosis
3845	KRAS	HP:0010669	Hypoplasia of the zygomatic bone
3845	KRAS	HP:0007018	Attention deficit hyperactivity disorder
3845	KRAS	HP:0011968	Feeding difficulties
3845	KRAS	HP:0010622	Neoplasm of the skeletal system
3845	KRAS	HP:0007099	Chiari type I malformation
3845	KRAS	HP:0004808	Acute myeloid leukemia
3845	KRAS	HP:0008391	Dystrophic fingernails
3845	KRAS	HP:0001057	Aplasia cutis congenita
3845	KRAS	HP:0001052	Nevus flammeus
3845	KRAS	HP:0002381	Aphasia
3845	KRAS	HP:0001048	Cavernous hemangioma
3845	KRAS	HP:0001028	Hemangioma
3845	KRAS	HP:0002376	Developmental regression
3845	KRAS	HP:0001012	Multiple lipomas
3845	KRAS	HP:0001010	Hypopigmentation of the skin
3845	KRAS	HP:0001004	Lymphedema
3845	KRAS	HP:0002353	EEG abnormality
3845	KRAS	HP:0002354	Memory impairment
3845	KRAS	HP:0001003	Multiple lentigines
3845	KRAS	HP:0002326	Transient ischemic attack
3845	KRAS	HP:0007206	Hemimegalencephaly
3845	KRAS	HP:0100660	Dyskinesia
3845	KRAS	HP:0010816	Epidermal nevus
3845	KRAS	HP:0010815	Nevus sebaceous
3845	KRAS	HP:0200008	Intestinal polyposis
3845	KRAS	HP:0010817	Linear nevus sebaceous
3845	KRAS	HP:0100615	Ovarian neoplasm
3845	KRAS	HP:0100613	Death in early adulthood
3845	KRAS	HP:0100625	Enlarged thorax
3845	KRAS	HP:0010786	Urinary tract neoplasm
3845	KRAS	HP:0002300	Mutism
3845	KRAS	HP:0002301	Hemiplegia
3845	KRAS	HP:0004912	Hypophosphatemic rickets
3845	KRAS	HP:0004209	Clinodactyly of the 5th finger
3845	KRAS	HP:0005523	Lymphoproliferative disorder
3845	KRAS	HP:0004279	Short palm
3845	KRAS	HP:0000639	Nystagmus
3845	KRAS	HP:0000637	Long palpebral fissure
3845	KRAS	HP:0000648	Optic atrophy
3845	KRAS	HP:0001973	Autoimmune thrombocytopenia
3845	KRAS	HP:0000612	Iris coloboma
3845	KRAS	HP:0000614	Abnormal nasolacrimal system morphology
3845	KRAS	HP:0000625	Eyelid coloboma
3845	KRAS	HP:0001928	Abnormality of coagulation
3845	KRAS	HP:0000602	Ophthalmoplegia
3845	KRAS	HP:0001909	Leukemia
3845	KRAS	HP:0011381	Aplasia of the semicircular canal
3845	KRAS	HP:0011362	Abnormal hair quantity
3845	KRAS	HP:0012683	Pineal cyst
3845	KRAS	HP:0011321	Left unilambdoid synostosis
3845	KRAS	HP:0012639	Abnormal nervous system morphology
3845	KRAS	HP:0001999	Abnormal facial shape
3845	KRAS	HP:0004322	Short stature
3845	KRAS	HP:0003002	Breast carcinoma
3845	KRAS	HP:0003003	Colon cancer
3845	KRAS	HP:0030680	Abnormality of cardiovascular system morphology
3845	KRAS	HP:0004389	Intestinal pseudo-obstruction
3845	KRAS	HP:0004396	Poor appetite
3845	KRAS	HP:0005692	Joint hyperflexibility
3845	KRAS	HP:0004374	Hemiplegia/hemiparesis
3845	KRAS	HP:0003006	Neuroblastoma
3845	KRAS	HP:0012745	Short palpebral fissure
3845	KRAS	HP:0000752	Hyperactivity
3845	KRAS	HP:0000767	Pectus excavatum
3845	KRAS	HP:0000768	Pectus carinatum
3845	KRAS	HP:0100031	Neoplasm of the thyroid gland
3845	KRAS	HP:0000738	Hallucinations
3845	KRAS	HP:0000737	Irritability
3845	KRAS	HP:0000739	Anxiety
3845	KRAS	HP:0012719	Functional abnormality of the gastrointestinal tract
3845	KRAS	HP:0000716	Depression
3845	KRAS	HP:0000708	Atypical behavior
3845	KRAS	HP:0009125	Lipodystrophy
3845	KRAS	HP:0012759	Neurodevelopmental abnormality
3845	KRAS	HP:0004442	Sagittal craniosynostosis
3845	KRAS	HP:0003109	Hyperphosphaturia
3845	KRAS	HP:0004422	Biparietal narrowing
3845	KRAS	HP:0004415	Pulmonary artery stenosis
3845	KRAS	HP:0030799	Scaphocephaly
3845	KRAS	HP:0003196	Short nose
3845	KRAS	HP:0000914	Shield chest
3845	KRAS	HP:0000929	Abnormal skull morphology
3845	KRAS	HP:0004493	Craniofacial hyperostosis
3845	KRAS	HP:0012803	Anisometropia
3845	KRAS	HP:0000819	Diabetes mellitus
3845	KRAS	HP:0000826	Precocious puberty
3845	KRAS	HP:0040071	Abnormal morphology of ulna
3845	KRAS	HP:0000995	Melanocytic nevus
3845	KRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
3845	KRAS	HP:0000978	Bruising susceptibility
3845	KRAS	HP:0000974	Hyperextensible skin
3845	KRAS	HP:0000991	Xanthomatosis
3845	KRAS	HP:0000982	Palmoplantar keratoderma
3845	KRAS	HP:0011611	Interrupted aortic arch
3845	KRAS	HP:0000958	Dry skin
3845	KRAS	HP:0000953	Hyperpigmentation of the skin
3845	KRAS	HP:0000952	Jaundice
3845	KRAS	HP:0000962	Hyperkeratosis
3845	KRAS	HP:0000938	Osteopenia
3845	KRAS	HP:0000943	Dysostosis multiplex
3845	KRAS	HP:0008070	Sparse hair
3845	KRAS	HP:0008064	Ichthyosis
3845	KRAS	HP:0008065	Aplasia/Hypoplasia of the skin
3845	KRAS	HP:0040188	Osteochondrosis
3845	KRAS	HP:0011675	Arrhythmia
3845	KRAS	HP:0000286	Epicanthus
3845	KRAS	HP:0000280	Coarse facial features
3845	KRAS	HP:0000293	Full cheeks
3845	KRAS	HP:0001596	Alopecia
3845	KRAS	HP:0000256	Macrocephaly
3845	KRAS	HP:0000276	Long face
3845	KRAS	HP:0000271	Abnormality of the face
3845	KRAS	HP:0000268	Dolichocephaly
3845	KRAS	HP:0000267	Cranial asymmetry
3845	KRAS	HP:0000269	Prominent occiput
3845	KRAS	HP:0007759	Opacification of the corneal stroma
3845	KRAS	HP:0002816	Genu recurvatum
3845	KRAS	HP:0030078	Lung adenocarcinoma
3845	KRAS	HP:0000242	Parietal bossing
3845	KRAS	HP:0000238	Hydrocephalus
3845	KRAS	HP:0002896	Neoplasm of the liver
3845	KRAS	HP:0001582	Redundant skin
3845	KRAS	HP:0012209	Juvenile myelomonocytic leukemia
3845	KRAS	HP:0001548	Overgrowth
3845	KRAS	HP:0000218	High palate
3845	KRAS	HP:0002894	Neoplasm of the pancreas
3845	KRAS	HP:0001561	Polyhydramnios
3845	KRAS	HP:0002893	Pituitary adenoma
3845	KRAS	HP:0002861	Melanoma
3845	KRAS	HP:0001531	Failure to thrive in infancy
3845	KRAS	HP:0001528	Hemihypertrophy
3845	KRAS	HP:0002857	Genu valgum
3845	KRAS	HP:0001522	Death in infancy
3845	KRAS	HP:0001508	Failure to thrive
3845	KRAS	HP:0002836	Bladder exstrophy
3845	KRAS	HP:0001510	Growth delay
3845	KRAS	HP:0011073	Abnormality of dental color
3845	KRAS	HP:0012378	Fatigue
3845	KRAS	HP:0000384	Preauricular skin tag
3845	KRAS	HP:0000391	Thickened helices
3845	KRAS	HP:0005249	Functional intestinal obstruction
3845	KRAS	HP:0006519	Alveolar cell carcinoma
3845	KRAS	HP:0002910	Elevated hepatic transaminase
3845	KRAS	HP:0006482	Abnormality of dental morphology
3845	KRAS	HP:0000365	Hearing impairment
3845	KRAS	HP:0011024	Abnormality of the gastrointestinal tract
3845	KRAS	HP:0000358	Posteriorly rotated ears
3845	KRAS	HP:0012334	Extrahepatic cholestasis
3845	KRAS	HP:0000369	Low-set ears
3845	KRAS	HP:0000368	Low-set, posteriorly rotated ears
3845	KRAS	HP:0000343	Long philtrum
3845	KRAS	HP:0000337	Broad forehead
3845	KRAS	HP:0001680	Coarctation of aorta
3845	KRAS	HP:0001679	Abnormal aortic morphology
3845	KRAS	HP:0000348	High forehead
3845	KRAS	HP:0000347	Micrognathia
3845	KRAS	HP:0001650	Aortic valve stenosis
3845	KRAS	HP:0012311	Monocytosis
3845	KRAS	HP:0000316	Hypertelorism
3845	KRAS	HP:0001643	Patent ductus arteriosus
3845	KRAS	HP:0001642	Pulmonic stenosis
3845	KRAS	HP:0002974	Radioulnar synostosis
3845	KRAS	HP:0001654	Abnormal heart valve morphology
3845	KRAS	HP:0000325	Triangular face
3845	KRAS	HP:0000324	Facial asymmetry
3845	KRAS	HP:0001655	Patent foramen ovale
3845	KRAS	HP:0002960	Autoimmunity
3845	KRAS	HP:0001629	Ventricular septal defect
3845	KRAS	HP:0001626	Abnormality of the cardiovascular system
3845	KRAS	HP:0001622	Premature birth
3845	KRAS	HP:0001641	Abnormal pulmonary valve morphology
3845	KRAS	HP:0001639	Hypertrophic cardiomyopathy
3845	KRAS	HP:0002967	Cubitus valgus
3845	KRAS	HP:0001631	Atrial septal defect
3845	KRAS	HP:0001634	Mitral valve prolapse
3845	KRAS	HP:0007957	Corneal opacity
3845	KRAS	HP:0006610	Wide intermamillary distance
3845	KRAS	HP:0000499	Abnormal eyelash morphology
3845	KRAS	HP:0005306	Capillary hemangioma
3845	KRAS	HP:0001738	Exocrine pancreatic insufficiency
3845	KRAS	HP:0000407	Sensorineural hearing impairment
3845	KRAS	HP:0000400	Macrotia
3845	KRAS	HP:0001704	Tricuspid valve prolapse
3845	KRAS	HP:0005281	Hypoplastic nasal bridge
3845	KRAS	HP:0005280	Depressed nasal bridge
3845	KRAS	HP:0000483	Astigmatism
3845	KRAS	HP:0000486	Strabismus
3845	KRAS	HP:0000482	Microcornea
3845	KRAS	HP:0000476	Cystic hygroma
3845	KRAS	HP:0000478	Abnormality of the eye
3845	KRAS	HP:0000494	Downslanted palpebral fissures
3845	KRAS	HP:0000492	Abnormal eyelid morphology
3845	KRAS	HP:0000488	Retinopathy
3845	KRAS	HP:0000463	Anteverted nares
3845	KRAS	HP:0000474	Thickened nuchal skin fold
3845	KRAS	HP:0000470	Short neck
3845	KRAS	HP:0000465	Webbed neck
3845	KRAS	HP:0012432	Chronic fatigue
3845	KRAS	HP:0001780	Abnormal toe morphology
3845	KRAS	HP:0001744	Splenomegaly
3845	KRAS	HP:0001743	Abnormality of the spleen
3845	KRAS	HP:0000431	Wide nasal bridge
3845	KRAS	HP:0006740	Transitional cell carcinoma of the bladder
3845	KRAS	HP:0006725	Pancreatic adenocarcinoma
3845	KRAS	HP:0000520	Proptosis
3845	KRAS	HP:0001824	Weight loss
3845	KRAS	HP:0000506	Telecanthus
3845	KRAS	HP:0000508	Ptosis
3845	KRAS	HP:0000502	Abnormal conjunctiva morphology
3845	KRAS	HP:0000505	Visual impairment
3845	KRAS	HP:0000504	Abnormality of vision
3845	KRAS	HP:0000598	Abnormality of the ear
3845	KRAS	HP:0030358	Non-small cell lung carcinoma
3845	KRAS	HP:0000581	Blepharophimosis
3845	KRAS	HP:0000589	Coloboma
3845	KRAS	HP:0001892	Abnormal bleeding
3845	KRAS	HP:0000568	Microphthalmia
3845	KRAS	HP:0000533	Chorioretinal atrophy
3845	KRAS	HP:0001878	Hemolytic anemia
3845	KRAS	HP:0001876	Pancytopenia
3845	KRAS	HP:0000545	Myopia
3845	KRAS	HP:0001875	Neutropenia
3848	KRT1	HP:0025114	Hypergranulosis
3848	KRT1	HP:0001231	Abnormal fingernail morphology
3848	KRT1	HP:0007446	Palmoplantar blistering
3848	KRT1	HP:0007447	Diffuse palmoplantar hyperkeratosis
3848	KRT1	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis
3848	KRT1	HP:0001220	Interphalangeal joint contracture of finger
3848	KRT1	HP:0001217	Clubbing
3848	KRT1	HP:0001371	Flexion contracture
3848	KRT1	HP:0007556	Plantar hyperkeratosis
3848	KRT1	HP:0007559	Localized epidermolytic hyperkeratosis
3848	KRT1	HP:0007543	Epidermal hyperkeratosis
3848	KRT1	HP:0006203	Decreased movement range in interphalangeal joints
3848	KRT1	HP:0007475	Congenital bullous ichthyosiform erythroderma
3848	KRT1	HP:0007460	Autoamputation of digits
3848	KRT1	HP:0000007	Autosomal recessive inheritance
3848	KRT1	HP:0000006	Autosomal dominant inheritance
3848	KRT1	HP:0032523	Tendon thickening
3848	KRT1	HP:0032541	Knuckle pad
3848	KRT1	HP:0004690	Thickened Achilles tendon
3848	KRT1	HP:0011889	Bleeding with minor or no trauma
3848	KRT1	HP:0003577	Congenital onset
3848	KRT1	HP:0100780	Conjunctival hamartoma
3848	KRT1	HP:0008404	Nail dystrophy
3848	KRT1	HP:0001030	Fragile skin
3848	KRT1	HP:0001047	Atopic dermatitis
3848	KRT1	HP:0001019	Erythroderma
3848	KRT1	HP:0010830	Impaired tactile sensation
3848	KRT1	HP:0025092	Epidermal acanthosis
3848	KRT1	HP:0010829	Impaired temperature sensation
3848	KRT1	HP:0200042	Skin ulcer
3848	KRT1	HP:0010783	Erythema
3848	KRT1	HP:0010765	Palmar hyperkeratosis
3848	KRT1	HP:0009775	Amniotic constriction ring
3848	KRT1	HP:0004396	Poor appetite
3848	KRT1	HP:0011463	Childhood onset
3848	KRT1	HP:0003212	Increased circulating IgE level
3848	KRT1	HP:0045059	Hyperkeratotic papule
3848	KRT1	HP:0000975	Hyperhidrosis
3848	KRT1	HP:0000972	Palmoplantar hyperkeratosis
3848	KRT1	HP:0000992	Cutaneous photosensitivity
3848	KRT1	HP:0000982	Palmoplantar keratoderma
3848	KRT1	HP:0000958	Dry skin
3848	KRT1	HP:0000962	Hyperkeratosis
3848	KRT1	HP:0008064	Ichthyosis
3848	KRT1	HP:0008066	Abnormal blistering of the skin
3848	KRT1	HP:0040189	Scaling skin
3848	KRT1	HP:0001595	Abnormal hair morphology
3848	KRT1	HP:0001597	Abnormality of the nail
3848	KRT1	HP:0001598	Concave nail
3848	KRT1	HP:0001581	Recurrent skin infections
3848	KRT1	HP:0025524	Palmoplantar scaling skin
3848	KRT1	HP:0001551	Abnormal umbilicus morphology
3848	KRT1	HP:0012203	Onychomycosis
3848	KRT1	HP:0012385	Camptodactyly
3848	KRT1	HP:0001824	Weight loss
3849	KRT2	HP:0007475	Congenital bullous ichthyosiform erythroderma
3849	KRT2	HP:0000006	Autosomal dominant inheritance
3849	KRT2	HP:0100792	Acantholysis
3849	KRT2	HP:0010783	Erythema
3849	KRT2	HP:0000982	Palmoplantar keratoderma
3849	KRT2	HP:0000969	Edema
3849	KRT2	HP:0000963	Thin skin
3849	KRT2	HP:0008064	Ichthyosis
3849	KRT2	HP:0008066	Abnormal blistering of the skin
3850	KRT3	HP:0009926	Epiphora
3850	KRT3	HP:0000006	Autosomal dominant inheritance
3850	KRT3	HP:0000613	Photophobia
3850	KRT3	HP:0000495	Recurrent corneal erosions
3851	KRT4	HP:0000006	Autosomal dominant inheritance
3851	KRT4	HP:0002745	Oral leukoplakia
3851	KRT4	HP:0001939	Abnormality of metabolism/homeostasis
3851	KRT4	HP:0000502	Abnormal conjunctiva morphology
3852	KRT5	HP:0001155	Abnormality of the hand
3852	KRT5	HP:0100806	Sepsis
3852	KRT5	HP:0025238	Foot pain
3852	KRT5	HP:0001263	Global developmental delay
3852	KRT5	HP:0001231	Abnormal fingernail morphology
3852	KRT5	HP:0007446	Palmoplantar blistering
3852	KRT5	HP:0007438	Mottled pigmentation of the trunk and proximal extremities
3852	KRT5	HP:0007427	Reticulated skin pigmentation
3852	KRT5	HP:0031045	Acral blistering
3852	KRT5	HP:0003819	Death in childhood
3852	KRT5	HP:0033802	Intra-epidermal blistering
3852	KRT5	HP:0001369	Arthritis
3852	KRT5	HP:0001363	Craniosynostosis
3852	KRT5	HP:0007556	Plantar hyperkeratosis
3852	KRT5	HP:0007530	Punctate palmoplantar hyperkeratosis
3852	KRT5	HP:0007513	Generalized hypopigmentation
3852	KRT5	HP:0031180	Erythema migrans
3852	KRT5	HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules
3852	KRT5	HP:0007497	Focal friction-related palmoplantar hyperkeratosis
3852	KRT5	HP:0007483	Depigmentation/hyperpigmentation of skin
3852	KRT5	HP:0007456	Progressive reticulate hyperpigmentation
3852	KRT5	HP:0000007	Autosomal recessive inheritance
3852	KRT5	HP:0000006	Autosomal dominant inheritance
3852	KRT5	HP:0025473	Hyperpigmented papule
3852	KRT5	HP:0000164	Abnormality of the dentition
3852	KRT5	HP:0008944	Distal lower limb amyotrophy
3852	KRT5	HP:0031293	Digital pitting scar
3852	KRT5	HP:0006297	Enamel hypoplasia
3852	KRT5	HP:0007599	Generalized reticulate brown pigmentation
3852	KRT5	HP:0007585	Skin fragility with non-scarring blistering
3852	KRT5	HP:0007589	Aplasia cutis congenita on trunk or limbs
3852	KRT5	HP:0002780	Bronchomalacia
3852	KRT5	HP:0002788	Recurrent upper respiratory tract infections
3852	KRT5	HP:0002719	Recurrent infections
3852	KRT5	HP:0003341	Lamina lucida cleavage
3852	KRT5	HP:0002046	Heat intolerance
3852	KRT5	HP:0003489	Acute episodes of neuropathic symptoms
3852	KRT5	HP:0002119	Ventriculomegaly
3852	KRT5	HP:0011937	Hypoplastic fifth toenail
3852	KRT5	HP:0002164	Nail dysplasia
3852	KRT5	HP:0003401	Paresthesia
3852	KRT5	HP:0003593	Infantile onset
3852	KRT5	HP:0003577	Congenital onset
3852	KRT5	HP:0008404	Nail dystrophy
3852	KRT5	HP:0009719	Hypomelanotic macule
3852	KRT5	HP:0200097	Oral mucosal blisters
3852	KRT5	HP:0011968	Feeding difficulties
3852	KRT5	HP:0010610	Palmar pits
3852	KRT5	HP:0020073	Hypopigmented macule
3852	KRT5	HP:0001056	Milia
3852	KRT5	HP:0001057	Aplasia cutis congenita
3852	KRT5	HP:0001034	Hypermelanotic macule
3852	KRT5	HP:0001036	Parakeratosis
3852	KRT5	HP:0001030	Fragile skin
3852	KRT5	HP:0001010	Hypopigmentation of the skin
3852	KRT5	HP:0200037	Skin vesicle
3852	KRT5	HP:0200035	Skin plaque
3852	KRT5	HP:0200034	Papule
3852	KRT5	HP:0025088	Onychomadesis
3852	KRT5	HP:0001075	Atrophic scars
3852	KRT5	HP:0001070	Mottled pigmentation
3852	KRT5	HP:0200040	Epidermoid cyst
3852	KRT5	HP:0200041	Skin erosion
3852	KRT5	HP:0010783	Erythema
3852	KRT5	HP:0010765	Palmar hyperkeratosis
3852	KRT5	HP:0100699	Scarring
3852	KRT5	HP:0003623	Neonatal onset
3852	KRT5	HP:0005590	Spotty hypopigmentation
3852	KRT5	HP:0034067	Tonofilament clumping
3852	KRT5	HP:0005585	Spotty hyperpigmentation
3852	KRT5	HP:0000613	Photophobia
3852	KRT5	HP:0001903	Anemia
3852	KRT5	HP:0011354	Generalized abnormality of skin
3852	KRT5	HP:0004313	Decreased circulating antibody level
3852	KRT5	HP:0006934	Congenital nystagmus
3852	KRT5	HP:0003073	Hypoalbuminemia
3852	KRT5	HP:0034193	Stratum basale cleavage
3852	KRT5	HP:0000768	Pectus carinatum
3852	KRT5	HP:0011471	Gastrostomy tube feeding in infancy
3852	KRT5	HP:0011463	Childhood onset
3852	KRT5	HP:0009123	Mixed hypo- and hyperpigmentation of the skin
3852	KRT5	HP:0012855	Scrotal hyperpigmentation
3852	KRT5	HP:0010298	Smooth tongue
3852	KRT5	HP:0045059	Hyperkeratotic papule
3852	KRT5	HP:0000975	Hyperhidrosis
3852	KRT5	HP:0000972	Palmoplantar hyperkeratosis
3852	KRT5	HP:0000992	Cutaneous photosensitivity
3852	KRT5	HP:0000989	Pruritus
3852	KRT5	HP:0000982	Palmoplantar keratoderma
3852	KRT5	HP:0000953	Hyperpigmentation of the skin
3852	KRT5	HP:0000962	Hyperkeratosis
3852	KRT5	HP:0040154	Acne inversa
3852	KRT5	HP:0008066	Abnormal blistering of the skin
3852	KRT5	HP:0001596	Alopecia
3852	KRT5	HP:0002815	Abnormality of the knee
3852	KRT5	HP:0001581	Recurrent skin infections
3852	KRT5	HP:0012221	Pretibial blistering
3852	KRT5	HP:0001522	Death in infancy
3852	KRT5	HP:0001508	Failure to thrive
3852	KRT5	HP:0030052	Inguinal freckling
3852	KRT5	HP:0001510	Growth delay
3852	KRT5	HP:0031525	Keratoacanthoma
3852	KRT5	HP:0001609	Hoarse voice
3852	KRT5	HP:0001601	Laryngomalacia
3852	KRT5	HP:0001600	Abnormality of the larynx
3852	KRT5	HP:0001615	Hoarse cry
3852	KRT5	HP:0000365	Hearing impairment
3852	KRT5	HP:0031446	Erosion of oral mucosa
3852	KRT5	HP:0031447	Penile freckling
3852	KRT5	HP:0007957	Corneal opacity
3852	KRT5	HP:0004057	Mitten deformity
3852	KRT5	HP:0000478	Abnormality of the eye
3852	KRT5	HP:0000464	Abnormality of the neck
3852	KRT5	HP:0006739	Squamous cell carcinoma of the skin
3852	KRT5	HP:0030442	Anal margin squamous cell carcinoma
3852	KRT5	HP:0005483	Abnormal epiglottis morphology
3852	KRT5	HP:0001805	Onychogryposis
3852	KRT5	HP:0001810	Dystrophic toenail
3852	KRT5	HP:0030350	Erythematous papule
3852	KRT5	HP:0000540	Hypermetropia
3852	KRT5	HP:0012513	Upper limb pain
3853	KRT6A	HP:0025248	Eruptive vellus hair cyst
3853	KRT6A	HP:0025245	Cutaneous cyst
3853	KRT6A	HP:0007446	Palmoplantar blistering
3853	KRT6A	HP:0007410	Palmoplantar hyperhidrosis
3853	KRT6A	HP:0012035	Steatocystoma multiplex
3853	KRT6A	HP:0007556	Plantar hyperkeratosis
3853	KRT6A	HP:0007502	Follicular hyperkeratosis
3853	KRT6A	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas
3853	KRT6A	HP:0000006	Autosomal dominant inheritance
3853	KRT6A	HP:0006288	Advanced eruption of teeth
3853	KRT6A	HP:0002745	Oral leukoplakia
3853	KRT6A	HP:0002098	Respiratory distress
3853	KRT6A	HP:0008401	Onychogryposis of toenails
3853	KRT6A	HP:0008404	Nail dystrophy
3853	KRT6A	HP:0100798	Fingernail dysplasia
3853	KRT6A	HP:0011968	Feeding difficulties
3853	KRT6A	HP:0200040	Epidermoid cyst
3853	KRT6A	HP:0010765	Palmar hyperkeratosis
3853	KRT6A	HP:0000695	Natal tooth
3853	KRT6A	HP:0030766	Ear pain
3853	KRT6A	HP:0040036	Onychogryposis of fingernail
3853	KRT6A	HP:0000975	Hyperhidrosis
3853	KRT6A	HP:0000982	Palmoplantar keratoderma
3853	KRT6A	HP:0040181	Chapped lip
3853	KRT6A	HP:0001596	Alopecia
3853	KRT6A	HP:0000221	Furrowed tongue
3853	KRT6A	HP:0000230	Gingivitis
3853	KRT6A	HP:0001508	Failure to thrive
3853	KRT6A	HP:0001609	Hoarse voice
3853	KRT6A	HP:0030318	Angular cheilitis
3853	KRT6A	HP:0030268	Hyperplastic callus formation
3853	KRT6A	HP:0001818	Paronychia
3853	KRT6A	HP:0012514	Lower limb pain
3854	KRT6B	HP:0025248	Eruptive vellus hair cyst
3854	KRT6B	HP:0025245	Cutaneous cyst
3854	KRT6B	HP:0007446	Palmoplantar blistering
3854	KRT6B	HP:0007410	Palmoplantar hyperhidrosis
3854	KRT6B	HP:0012035	Steatocystoma multiplex
3854	KRT6B	HP:0007502	Follicular hyperkeratosis
3854	KRT6B	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas
3854	KRT6B	HP:0000006	Autosomal dominant inheritance
3854	KRT6B	HP:0006288	Advanced eruption of teeth
3854	KRT6B	HP:0002745	Oral leukoplakia
3854	KRT6B	HP:0002098	Respiratory distress
3854	KRT6B	HP:0008401	Onychogryposis of toenails
3854	KRT6B	HP:0008404	Nail dystrophy
3854	KRT6B	HP:0100798	Fingernail dysplasia
3854	KRT6B	HP:0011968	Feeding difficulties
3854	KRT6B	HP:0200040	Epidermoid cyst
3854	KRT6B	HP:0010765	Palmar hyperkeratosis
3854	KRT6B	HP:0000695	Natal tooth
3854	KRT6B	HP:0030766	Ear pain
3854	KRT6B	HP:0040036	Onychogryposis of fingernail
3854	KRT6B	HP:0000982	Palmoplantar keratoderma
3854	KRT6B	HP:0001596	Alopecia
3854	KRT6B	HP:0001508	Failure to thrive
3854	KRT6B	HP:0001609	Hoarse voice
3854	KRT6B	HP:0030318	Angular cheilitis
3854	KRT6B	HP:0030268	Hyperplastic callus formation
3854	KRT6B	HP:0001818	Paronychia
3854	KRT6B	HP:0012514	Lower limb pain
3857	KRT9	HP:0025114	Hypergranulosis
3857	KRT9	HP:0001231	Abnormal fingernail morphology
3857	KRT9	HP:0007447	Diffuse palmoplantar hyperkeratosis
3857	KRT9	HP:0001220	Interphalangeal joint contracture of finger
3857	KRT9	HP:0001217	Clubbing
3857	KRT9	HP:0007556	Plantar hyperkeratosis
3857	KRT9	HP:0007559	Localized epidermolytic hyperkeratosis
3857	KRT9	HP:0007543	Epidermal hyperkeratosis
3857	KRT9	HP:0000006	Autosomal dominant inheritance
3857	KRT9	HP:0032541	Knuckle pad
3857	KRT9	HP:0010830	Impaired tactile sensation
3857	KRT9	HP:0025092	Epidermal acanthosis
3857	KRT9	HP:0010829	Impaired temperature sensation
3857	KRT9	HP:0010765	Palmar hyperkeratosis
3857	KRT9	HP:0003212	Increased circulating IgE level
3857	KRT9	HP:0000975	Hyperhidrosis
3857	KRT9	HP:0000972	Palmoplantar hyperkeratosis
3857	KRT9	HP:0008066	Abnormal blistering of the skin
3857	KRT9	HP:0012385	Camptodactyly
3858	KRT10	HP:0002557	Hypoplastic nipples
3858	KRT10	HP:0001217	Clubbing
3858	KRT10	HP:0007475	Congenital bullous ichthyosiform erythroderma
3858	KRT10	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
3858	KRT10	HP:0000007	Autosomal recessive inheritance
3858	KRT10	HP:0000006	Autosomal dominant inheritance
3858	KRT10	HP:0003593	Infantile onset
3858	KRT10	HP:0100780	Conjunctival hamartoma
3858	KRT10	HP:0001019	Erythroderma
3858	KRT10	HP:0025092	Epidermal acanthosis
3858	KRT10	HP:0025080	Orthokeratotic hyperkeratosis
3858	KRT10	HP:0200042	Skin ulcer
3858	KRT10	HP:0010783	Erythema
3858	KRT10	HP:0000639	Nystagmus
3858	KRT10	HP:0000656	Ectropion
3858	KRT10	HP:0004325	Decreased body weight
3858	KRT10	HP:0004322	Short stature
3858	KRT10	HP:0004396	Poor appetite
3858	KRT10	HP:0000998	Hypertrichosis
3858	KRT10	HP:0000972	Palmoplantar hyperkeratosis
3858	KRT10	HP:0000992	Cutaneous photosensitivity
3858	KRT10	HP:0000989	Pruritus
3858	KRT10	HP:0000982	Palmoplantar keratoderma
3858	KRT10	HP:0000962	Hyperkeratosis
3858	KRT10	HP:0008064	Ichthyosis
3858	KRT10	HP:0008066	Abnormal blistering of the skin
3858	KRT10	HP:0040189	Scaling skin
3858	KRT10	HP:0001595	Abnormal hair morphology
3858	KRT10	HP:0001597	Abnormality of the nail
3858	KRT10	HP:0000486	Strabismus
3858	KRT10	HP:0001824	Weight loss
3859	KRT12	HP:0001131	Corneal dystrophy
3859	KRT12	HP:0009926	Epiphora
3859	KRT12	HP:0000006	Autosomal dominant inheritance
3859	KRT12	HP:0007663	Reduced visual acuity
3859	KRT12	HP:0003680	Nonprogressive
3859	KRT12	HP:0000613	Photophobia
3859	KRT12	HP:0007856	Punctate opacification of the cornea
3860	KRT13	HP:0000006	Autosomal dominant inheritance
3860	KRT13	HP:0025092	Epidermal acanthosis
3860	KRT13	HP:0040009	Hyperparakeratosis
3860	KRT13	HP:0000969	Edema
3861	KRT14	HP:0003764	Nevus
3861	KRT14	HP:0100806	Sepsis
3861	KRT14	HP:0025238	Foot pain
3861	KRT14	HP:0001263	Global developmental delay
3861	KRT14	HP:0001231	Abnormal fingernail morphology
3861	KRT14	HP:0007446	Palmoplantar blistering
3861	KRT14	HP:0007427	Reticulated skin pigmentation
3861	KRT14	HP:0031045	Acral blistering
3861	KRT14	HP:0001220	Interphalangeal joint contracture of finger
3861	KRT14	HP:0001363	Craniosynostosis
3861	KRT14	HP:0007556	Plantar hyperkeratosis
3861	KRT14	HP:0007530	Punctate palmoplantar hyperkeratosis
3861	KRT14	HP:0007500	Decreased number of sweat glands
3861	KRT14	HP:0007497	Focal friction-related palmoplantar hyperkeratosis
3861	KRT14	HP:0007483	Depigmentation/hyperpigmentation of skin
3861	KRT14	HP:0007455	Adermatoglyphia
3861	KRT14	HP:0000007	Autosomal recessive inheritance
3861	KRT14	HP:0000006	Autosomal dominant inheritance
3861	KRT14	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology
3861	KRT14	HP:0000164	Abnormality of the dentition
3861	KRT14	HP:0008944	Distal lower limb amyotrophy
3861	KRT14	HP:0031282	Malalignment of the great toenail
3861	KRT14	HP:0006297	Enamel hypoplasia
3861	KRT14	HP:0006286	Yellow-brown discoloration of the teeth
3861	KRT14	HP:0007599	Generalized reticulate brown pigmentation
3861	KRT14	HP:0006253	Swelling of proximal interphalangeal joints
3861	KRT14	HP:0007585	Skin fragility with non-scarring blistering
3861	KRT14	HP:0007588	Reticular hyperpigmentation
3861	KRT14	HP:0007589	Aplasia cutis congenita on trunk or limbs
3861	KRT14	HP:0002780	Bronchomalacia
3861	KRT14	HP:0002719	Recurrent infections
3861	KRT14	HP:0003341	Lamina lucida cleavage
3861	KRT14	HP:0002046	Heat intolerance
3861	KRT14	HP:0003489	Acute episodes of neuropathic symptoms
3861	KRT14	HP:0002119	Ventriculomegaly
3861	KRT14	HP:0002164	Nail dysplasia
3861	KRT14	HP:0003401	Paresthesia
3861	KRT14	HP:0003593	Infantile onset
3861	KRT14	HP:0003577	Congenital onset
3861	KRT14	HP:0008404	Nail dystrophy
3861	KRT14	HP:0009719	Hypomelanotic macule
3861	KRT14	HP:0002293	Alopecia of scalp
3861	KRT14	HP:0200097	Oral mucosal blisters
3861	KRT14	HP:0011968	Feeding difficulties
3861	KRT14	HP:0008392	Subungual hyperkeratosis
3861	KRT14	HP:0008388	Abnormal toenail morphology
3861	KRT14	HP:0001056	Milia
3861	KRT14	HP:0001057	Aplasia cutis congenita
3861	KRT14	HP:0001034	Hypermelanotic macule
3861	KRT14	HP:0001030	Fragile skin
3861	KRT14	HP:0001010	Hypopigmentation of the skin
3861	KRT14	HP:0200035	Skin plaque
3861	KRT14	HP:0200034	Papule
3861	KRT14	HP:0001075	Atrophic scars
3861	KRT14	HP:0001070	Mottled pigmentation
3861	KRT14	HP:0200041	Skin erosion
3861	KRT14	HP:0010783	Erythema
3861	KRT14	HP:0010765	Palmar hyperkeratosis
3861	KRT14	HP:0100699	Scarring
3861	KRT14	HP:0003623	Neonatal onset
3861	KRT14	HP:0005590	Spotty hypopigmentation
3861	KRT14	HP:0034067	Tonofilament clumping
3861	KRT14	HP:0005586	Hyperpigmentation in sun-exposed areas
3861	KRT14	HP:0005585	Spotty hyperpigmentation
3861	KRT14	HP:0000613	Photophobia
3861	KRT14	HP:0001903	Anemia
3861	KRT14	HP:0011354	Generalized abnormality of skin
3861	KRT14	HP:0000670	Carious teeth
3861	KRT14	HP:0004313	Decreased circulating antibody level
3861	KRT14	HP:0006934	Congenital nystagmus
3861	KRT14	HP:0003073	Hypoalbuminemia
3861	KRT14	HP:0034194	Suprabasal cleavage
3861	KRT14	HP:0034193	Stratum basale cleavage
3861	KRT14	HP:0011471	Gastrostomy tube feeding in infancy
3861	KRT14	HP:0012785	Flexion contracture of finger
3861	KRT14	HP:0012788	Reticulate pigmentation of oral mucosa
3861	KRT14	HP:0011463	Childhood onset
3861	KRT14	HP:0009123	Mixed hypo- and hyperpigmentation of the skin
3861	KRT14	HP:0010298	Smooth tongue
3861	KRT14	HP:0045059	Hyperkeratotic papule
3861	KRT14	HP:0000975	Hyperhidrosis
3861	KRT14	HP:0000972	Palmoplantar hyperkeratosis
3861	KRT14	HP:0000992	Cutaneous photosensitivity
3861	KRT14	HP:0000989	Pruritus
3861	KRT14	HP:0000982	Palmoplantar keratoderma
3861	KRT14	HP:0000958	Dry skin
3861	KRT14	HP:0000953	Hyperpigmentation of the skin
3861	KRT14	HP:0000970	Anhidrosis
3861	KRT14	HP:0000966	Hypohidrosis
3861	KRT14	HP:0000962	Hyperkeratosis
3861	KRT14	HP:0008066	Abnormal blistering of the skin
3861	KRT14	HP:0001596	Alopecia
3861	KRT14	HP:0001581	Recurrent skin infections
3861	KRT14	HP:0001508	Failure to thrive
3861	KRT14	HP:0001510	Growth delay
3861	KRT14	HP:0011069	Supernumerary tooth
3861	KRT14	HP:0001609	Hoarse voice
3861	KRT14	HP:0001601	Laryngomalacia
3861	KRT14	HP:0001600	Abnormality of the larynx
3861	KRT14	HP:0001615	Hoarse cry
3861	KRT14	HP:0006480	Premature loss of teeth
3861	KRT14	HP:0006482	Abnormality of dental morphology
3861	KRT14	HP:0031446	Erosion of oral mucosa
3861	KRT14	HP:0031464	Genital blistering
3861	KRT14	HP:0007957	Corneal opacity
3861	KRT14	HP:0006739	Squamous cell carcinoma of the skin
3861	KRT14	HP:0005483	Abnormal epiglottis morphology
3861	KRT14	HP:0000502	Abnormal conjunctiva morphology
3861	KRT14	HP:0001808	Fragile nails
3861	KRT14	HP:0001805	Onychogryposis
3861	KRT14	HP:0001807	Ridged nail
3861	KRT14	HP:0001806	Onycholysis
3861	KRT14	HP:0001802	Absent toenail
3861	KRT14	HP:0001810	Dystrophic toenail
3861	KRT14	HP:0030350	Erythematous papule
3861	KRT14	HP:0000540	Hypermetropia
3861	KRT14	HP:0012513	Upper limb pain
3868	KRT16	HP:0025114	Hypergranulosis
3868	KRT16	HP:0025248	Eruptive vellus hair cyst
3868	KRT16	HP:0025245	Cutaneous cyst
3868	KRT16	HP:0001231	Abnormal fingernail morphology
3868	KRT16	HP:0033707	Perioral hyperkeratosis
3868	KRT16	HP:0007446	Palmoplantar blistering
3868	KRT16	HP:0007447	Diffuse palmoplantar hyperkeratosis
3868	KRT16	HP:0007410	Palmoplantar hyperhidrosis
3868	KRT16	HP:0001220	Interphalangeal joint contracture of finger
3868	KRT16	HP:0001217	Clubbing
3868	KRT16	HP:0012035	Steatocystoma multiplex
3868	KRT16	HP:0007543	Epidermal hyperkeratosis
3868	KRT16	HP:0007502	Follicular hyperkeratosis
3868	KRT16	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas
3868	KRT16	HP:0007475	Congenital bullous ichthyosiform erythroderma
3868	KRT16	HP:0000006	Autosomal dominant inheritance
3868	KRT16	HP:0006288	Advanced eruption of teeth
3868	KRT16	HP:0032541	Knuckle pad
3868	KRT16	HP:0002745	Oral leukoplakia
3868	KRT16	HP:0002098	Respiratory distress
3868	KRT16	HP:0008401	Onychogryposis of toenails
3868	KRT16	HP:0008404	Nail dystrophy
3868	KRT16	HP:0100798	Fingernail dysplasia
3868	KRT16	HP:0011968	Feeding difficulties
3868	KRT16	HP:0010830	Impaired tactile sensation
3868	KRT16	HP:0025092	Epidermal acanthosis
3868	KRT16	HP:0010829	Impaired temperature sensation
3868	KRT16	HP:0200040	Epidermoid cyst
3868	KRT16	HP:0032152	Keratosis pilaris
3868	KRT16	HP:0010765	Palmar hyperkeratosis
3868	KRT16	HP:0003621	Juvenile onset
3868	KRT16	HP:0000695	Natal tooth
3868	KRT16	HP:0030766	Ear pain
3868	KRT16	HP:0040036	Onychogryposis of fingernail
3868	KRT16	HP:0000975	Hyperhidrosis
3868	KRT16	HP:0000972	Palmoplantar hyperkeratosis
3868	KRT16	HP:0000982	Palmoplantar keratoderma
3868	KRT16	HP:0008066	Abnormal blistering of the skin
3868	KRT16	HP:0001596	Alopecia
3868	KRT16	HP:0001508	Failure to thrive
3868	KRT16	HP:0012385	Camptodactyly
3868	KRT16	HP:0001609	Hoarse voice
3868	KRT16	HP:0030318	Angular cheilitis
3868	KRT16	HP:0030268	Hyperplastic callus formation
3868	KRT16	HP:0001805	Onychogryposis
3868	KRT16	HP:0001818	Paronychia
3868	KRT16	HP:0012514	Lower limb pain
3872	KRT17	HP:0025248	Eruptive vellus hair cyst
3872	KRT17	HP:0025245	Cutaneous cyst
3872	KRT17	HP:0007446	Palmoplantar blistering
3872	KRT17	HP:0007410	Palmoplantar hyperhidrosis
3872	KRT17	HP:0012035	Steatocystoma multiplex
3872	KRT17	HP:0007502	Follicular hyperkeratosis
3872	KRT17	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas
3872	KRT17	HP:0000006	Autosomal dominant inheritance
3872	KRT17	HP:0006288	Advanced eruption of teeth
3872	KRT17	HP:0002745	Oral leukoplakia
3872	KRT17	HP:0002098	Respiratory distress
3872	KRT17	HP:0002164	Nail dysplasia
3872	KRT17	HP:0002209	Sparse scalp hair
3872	KRT17	HP:0008401	Onychogryposis of toenails
3872	KRT17	HP:0008404	Nail dystrophy
3872	KRT17	HP:0009720	Adenoma sebaceum
3872	KRT17	HP:0100798	Fingernail dysplasia
3872	KRT17	HP:0011968	Feeding difficulties
3872	KRT17	HP:0008392	Subungual hyperkeratosis
3872	KRT17	HP:0025084	Folliculitis
3872	KRT17	HP:0200040	Epidermoid cyst
3872	KRT17	HP:0010765	Palmar hyperkeratosis
3872	KRT17	HP:0011359	Dry hair
3872	KRT17	HP:0000695	Natal tooth
3872	KRT17	HP:0000787	Nephrolithiasis
3872	KRT17	HP:0030766	Ear pain
3872	KRT17	HP:0040036	Onychogryposis of fingernail
3872	KRT17	HP:0045075	Sparse eyebrow
3872	KRT17	HP:0000972	Palmoplantar hyperkeratosis
3872	KRT17	HP:0000982	Palmoplantar keratoderma
3872	KRT17	HP:0001596	Alopecia
3872	KRT17	HP:0001508	Failure to thrive
3872	KRT17	HP:0001609	Hoarse voice
3872	KRT17	HP:0030318	Angular cheilitis
3872	KRT17	HP:0030268	Hyperplastic callus formation
3872	KRT17	HP:0001818	Paronychia
3872	KRT17	HP:0012514	Lower limb pain
3875	KRT18	HP:0001254	Lethargy
3875	KRT18	HP:0001394	Cirrhosis
3875	KRT18	HP:0000007	Autosomal recessive inheritance
3875	KRT18	HP:0002613	Biliary cirrhosis
3875	KRT18	HP:0410069	Increased level of propylene glycol in blood
3875	KRT18	HP:0410067	Increased level of L-fucose in urine
3875	KRT18	HP:0001413	Micronodular cirrhosis
3875	KRT18	HP:0002092	Pulmonary arterial hypertension
3875	KRT18	HP:0002040	Esophageal varix
3875	KRT18	HP:0004787	Fulminant hepatitis
3875	KRT18	HP:0003584	Late onset
3875	KRT18	HP:0001945	Fever
3875	KRT18	HP:0000822	Hypertension
3875	KRT18	HP:0003270	Abdominal distention
3875	KRT18	HP:0000952	Jaundice
3875	KRT18	HP:0001541	Ascites
3887	KRT81	HP:0001249	Intellectual disability
3887	KRT81	HP:0003828	Variable expressivity
3887	KRT81	HP:0007502	Follicular hyperkeratosis
3887	KRT81	HP:0007468	Perifollicular hyperkeratosis
3887	KRT81	HP:0000006	Autosomal dominant inheritance
3887	KRT81	HP:0000164	Abnormality of the dentition
3887	KRT81	HP:0100543	Cognitive impairment
3887	KRT81	HP:0002164	Nail dysplasia
3887	KRT81	HP:0003593	Infantile onset
3887	KRT81	HP:0002217	Slow-growing hair
3887	KRT81	HP:0002232	Patchy alopecia
3887	KRT81	HP:0002213	Fine hair
3887	KRT81	HP:0010719	Abnormality of hair texture
3887	KRT81	HP:0008404	Nail dystrophy
3887	KRT81	HP:0002299	Brittle hair
3887	KRT81	HP:0100753	Schizophrenia
3887	KRT81	HP:0032152	Keratosis pilaris
3887	KRT81	HP:0008070	Sparse hair
3887	KRT81	HP:0001597	Abnormality of the nail
3887	KRT81	HP:0001596	Alopecia
3887	KRT81	HP:0000499	Abnormal eyelash morphology
3887	KRT81	HP:0000518	Cataract
3887	KRT81	HP:0000534	Abnormal eyebrow morphology
3889	KRT83	HP:0001249	Intellectual disability
3889	KRT83	HP:0003828	Variable expressivity
3889	KRT83	HP:0001387	Joint stiffness
3889	KRT83	HP:0007502	Follicular hyperkeratosis
3889	KRT83	HP:0007468	Perifollicular hyperkeratosis
3889	KRT83	HP:0000007	Autosomal recessive inheritance
3889	KRT83	HP:0000006	Autosomal dominant inheritance
3889	KRT83	HP:0000164	Abnormality of the dentition
3889	KRT83	HP:0100543	Cognitive impairment
3889	KRT83	HP:0002164	Nail dysplasia
3889	KRT83	HP:0003593	Infantile onset
3889	KRT83	HP:0002217	Slow-growing hair
3889	KRT83	HP:0002232	Patchy alopecia
3889	KRT83	HP:0002213	Fine hair
3889	KRT83	HP:0010719	Abnormality of hair texture
3889	KRT83	HP:0008404	Nail dystrophy
3889	KRT83	HP:0002299	Brittle hair
3889	KRT83	HP:0100753	Schizophrenia
3889	KRT83	HP:0200035	Skin plaque
3889	KRT83	HP:0010783	Erythema
3889	KRT83	HP:0032152	Keratosis pilaris
3889	KRT83	HP:0011463	Childhood onset
3889	KRT83	HP:0000972	Palmoplantar hyperkeratosis
3889	KRT83	HP:0000982	Palmoplantar keratoderma
3889	KRT83	HP:0000962	Hyperkeratosis
3889	KRT83	HP:0008070	Sparse hair
3889	KRT83	HP:0001595	Abnormal hair morphology
3889	KRT83	HP:0001597	Abnormality of the nail
3889	KRT83	HP:0001596	Alopecia
3889	KRT83	HP:0000499	Abnormal eyelash morphology
3889	KRT83	HP:0000518	Cataract
3889	KRT83	HP:0001805	Onychogryposis
3889	KRT83	HP:0000534	Abnormal eyebrow morphology
3891	KRT85	HP:0003777	Pili torti
3891	KRT85	HP:0001249	Intellectual disability
3891	KRT85	HP:0007436	Hair-nail ectodermal dysplasia
3891	KRT85	HP:0000007	Autosomal recessive inheritance
3891	KRT85	HP:0000164	Abnormality of the dentition
3891	KRT85	HP:0002223	Absent eyebrow
3891	KRT85	HP:0002231	Sparse body hair
3891	KRT85	HP:0008404	Nail dystrophy
3891	KRT85	HP:0002299	Brittle hair
3891	KRT85	HP:0008394	Congenital onychodystrophy
3891	KRT85	HP:0004524	Temporal hypotrichosis
3891	KRT85	HP:0000971	Abnormal sweat gland morphology
3891	KRT85	HP:0001596	Alopecia
3891	KRT85	HP:0001806	Onycholysis
3891	KRT85	HP:0000561	Absent eyelashes
3892	KRT86	HP:0001249	Intellectual disability
3892	KRT86	HP:0003828	Variable expressivity
3892	KRT86	HP:0007502	Follicular hyperkeratosis
3892	KRT86	HP:0007468	Perifollicular hyperkeratosis
3892	KRT86	HP:0000006	Autosomal dominant inheritance
3892	KRT86	HP:0000164	Abnormality of the dentition
3892	KRT86	HP:0100543	Cognitive impairment
3892	KRT86	HP:0002164	Nail dysplasia
3892	KRT86	HP:0003593	Infantile onset
3892	KRT86	HP:0002217	Slow-growing hair
3892	KRT86	HP:0002232	Patchy alopecia
3892	KRT86	HP:0002213	Fine hair
3892	KRT86	HP:0010719	Abnormality of hair texture
3892	KRT86	HP:0008404	Nail dystrophy
3892	KRT86	HP:0002299	Brittle hair
3892	KRT86	HP:0100753	Schizophrenia
3892	KRT86	HP:0032152	Keratosis pilaris
3892	KRT86	HP:0008070	Sparse hair
3892	KRT86	HP:0001597	Abnormality of the nail
3892	KRT86	HP:0001596	Alopecia
3892	KRT86	HP:0000499	Abnormal eyelash morphology
3892	KRT86	HP:0000518	Cataract
3892	KRT86	HP:0000534	Abnormal eyebrow morphology
3897	L1CAM	HP:0001188	Hand clenching
3897	L1CAM	HP:0001181	Adducted thumb
3897	L1CAM	HP:0002493	Upper motor neuron dysfunction
3897	L1CAM	HP:0010864	Intellectual disability, severe
3897	L1CAM	HP:0002410	Aqueductal stenosis
3897	L1CAM	HP:0001274	Agenesis of corpus callosum
3897	L1CAM	HP:0001268	Mental deterioration
3897	L1CAM	HP:0001288	Gait disturbance
3897	L1CAM	HP:0001256	Intellectual disability, mild
3897	L1CAM	HP:0001250	Seizure
3897	L1CAM	HP:0001251	Ataxia
3897	L1CAM	HP:0001249	Intellectual disability
3897	L1CAM	HP:0001258	Spastic paraplegia
3897	L1CAM	HP:0001257	Spasticity
3897	L1CAM	HP:0007340	Lower limb muscle weakness
3897	L1CAM	HP:0002516	Increased intracranial pressure
3897	L1CAM	HP:0032327	Interhemispheric cyst
3897	L1CAM	HP:0001387	Joint stiffness
3897	L1CAM	HP:0001347	Hyperreflexia
3897	L1CAM	HP:0001360	Holoprosencephaly
3897	L1CAM	HP:0001331	Absent septum pellucidum
3897	L1CAM	HP:0001324	Muscle weakness
3897	L1CAM	HP:0001338	Partial agenesis of the corpus callosum
3897	L1CAM	HP:0001321	Cerebellar hypoplasia
3897	L1CAM	HP:0001419	X-linked recessive inheritance
3897	L1CAM	HP:0001417	X-linked inheritance
3897	L1CAM	HP:0003307	Hyperlordosis
3897	L1CAM	HP:0100543	Cognitive impairment
3897	L1CAM	HP:0002061	Lower limb spasticity
3897	L1CAM	HP:0002119	Ventriculomegaly
3897	L1CAM	HP:0009600	Contracture of thumb
3897	L1CAM	HP:0100490	Camptodactyly of finger
3897	L1CAM	HP:0010550	Paraplegia
3897	L1CAM	HP:0002251	Aganglionic megacolon
3897	L1CAM	HP:0007016	Corticospinal tract hypoplasia
3897	L1CAM	HP:0007068	Inferior cerebellar vermis hypoplasia
3897	L1CAM	HP:0002381	Aphasia
3897	L1CAM	HP:0002362	Shuffling gait
3897	L1CAM	HP:0002342	Intellectual disability, moderate
3897	L1CAM	HP:0004209	Clinodactyly of the 5th finger
3897	L1CAM	HP:0000639	Nystagmus
3897	L1CAM	HP:0001999	Abnormal facial shape
3897	L1CAM	HP:0004322	Short stature
3897	L1CAM	HP:0004374	Hemiplegia/hemiparesis
3897	L1CAM	HP:0000750	Delayed speech and language development
3897	L1CAM	HP:0000280	Coarse facial features
3897	L1CAM	HP:0000256	Macrocephaly
3897	L1CAM	HP:0002808	Kyphosis
3897	L1CAM	HP:0000238	Hydrocephalus
3897	L1CAM	HP:0000252	Microcephaly
3897	L1CAM	HP:0000486	Strabismus
3897	L1CAM	HP:0001762	Talipes equinovarus
3897	L1CAM	HP:0001761	Pes cavus
3899	AFF3	HP:0003763	Bruxism
3899	AFF3	HP:0001285	Spastic tetraparesis
3899	AFF3	HP:0001252	Hypotonia
3899	AFF3	HP:0001249	Intellectual disability
3899	AFF3	HP:0001263	Global developmental delay
3899	AFF3	HP:0007359	Focal-onset seizure
3899	AFF3	HP:0000089	Renal hypoplasia
3899	AFF3	HP:0000085	Horseshoe kidney
3899	AFF3	HP:0002673	Coxa valga
3899	AFF3	HP:0000006	Autosomal dominant inheritance
3899	AFF3	HP:0001336	Myoclonus
3899	AFF3	HP:0001305	Dandy-Walker malformation
3899	AFF3	HP:0002650	Scoliosis
3899	AFF3	HP:0000179	Thick lower lip vermilion
3899	AFF3	HP:0000154	Wide mouth
3899	AFF3	HP:0002714	Downturned corners of mouth
3899	AFF3	HP:0002020	Gastroesophageal reflux
3899	AFF3	HP:0005943	Respiratory arrest
3899	AFF3	HP:0002069	Bilateral tonic-clonic seizure
3899	AFF3	HP:0010442	Polydactyly
3899	AFF3	HP:0002121	Generalized non-motor (absence) seizure
3899	AFF3	HP:0002119	Ventriculomegaly
3899	AFF3	HP:0100704	Cerebral visual impairment
3899	AFF3	HP:0200134	Epileptic encephalopathy
3899	AFF3	HP:0002280	Enlarged cisterna magna
3899	AFF3	HP:0009765	Low hanging columella
3899	AFF3	HP:0000639	Nystagmus
3899	AFF3	HP:0000637	Long palpebral fissure
3899	AFF3	HP:0000687	Widely spaced teeth
3899	AFF3	HP:0000664	Synophrys
3899	AFF3	HP:0004322	Short stature
3899	AFF3	HP:0003083	Dislocated radial head
3899	AFF3	HP:0003038	Fibular hypoplasia
3899	AFF3	HP:0003027	Mesomelia
3899	AFF3	HP:0012745	Short palpebral fissure
3899	AFF3	HP:0000729	Autistic behavior
3899	AFF3	HP:0011451	Primary microcephaly
3899	AFF3	HP:0000891	Cervical ribs
3899	AFF3	HP:0010296	Ankyloglossia
3899	AFF3	HP:0000998	Hypertrichosis
3899	AFF3	HP:0000954	Single transverse palmar crease
3899	AFF3	HP:0000960	Sacral dimple
3899	AFF3	HP:0000938	Osteopenia
3899	AFF3	HP:0005815	Supernumerary ribs
3899	AFF3	HP:0002827	Hip dislocation
3899	AFF3	HP:0000252	Microcephaly
3899	AFF3	HP:0000219	Thin upper lip vermilion
3899	AFF3	HP:0000212	Gingival overgrowth
3899	AFF3	HP:0001522	Death in infancy
3899	AFF3	HP:0001508	Failure to thrive
3899	AFF3	HP:0000369	Low-set ears
3899	AFF3	HP:0000347	Micrognathia
3899	AFF3	HP:0000319	Smooth philtrum
3899	AFF3	HP:0000316	Hypertelorism
3899	AFF3	HP:0000322	Short philtrum
3899	AFF3	HP:0000303	Mandibular prognathia
3899	AFF3	HP:0000486	Strabismus
3899	AFF3	HP:0012444	Brain atrophy
3899	AFF3	HP:0012450	Chronic constipation
3899	AFF3	HP:0000470	Short neck
3899	AFF3	HP:0001763	Pes planus
3899	AFF3	HP:0000414	Bulbous nose
3908	LAMA2	HP:0002446	Astrocytosis
3908	LAMA2	HP:0003722	Neck flexor weakness
3908	LAMA2	HP:0003741	Congenital muscular dystrophy
3908	LAMA2	HP:0003710	Exercise-induced muscle cramps
3908	LAMA2	HP:0001270	Motor delay
3908	LAMA2	HP:0001284	Areflexia
3908	LAMA2	HP:0001250	Seizure
3908	LAMA2	HP:0001252	Hypotonia
3908	LAMA2	HP:0001249	Intellectual disability
3908	LAMA2	HP:0007359	Focal-onset seizure
3908	LAMA2	HP:0002540	Inability to walk
3908	LAMA2	HP:0002536	Abnormal cortical gyration
3908	LAMA2	HP:0002515	Waddling gait
3908	LAMA2	HP:0002500	Abnormal cerebral white matter morphology
3908	LAMA2	HP:0001371	Flexion contracture
3908	LAMA2	HP:0008872	Feeding difficulties in infancy
3908	LAMA2	HP:0001324	Muscle weakness
3908	LAMA2	HP:0001339	Lissencephaly
3908	LAMA2	HP:0000007	Autosomal recessive inheritance
3908	LAMA2	HP:0001302	Pachygyria
3908	LAMA2	HP:0002650	Scoliosis
3908	LAMA2	HP:0001319	Neonatal hypotonia
3908	LAMA2	HP:0001315	Reduced tendon reflexes
3908	LAMA2	HP:0000194	Open mouth
3908	LAMA2	HP:0000158	Macroglossia
3908	LAMA2	HP:0008994	Proximal muscle weakness in lower limbs
3908	LAMA2	HP:0008997	Proximal muscle weakness in upper limbs
3908	LAMA2	HP:0008981	Calf muscle hypertrophy
3908	LAMA2	HP:0002783	Recurrent lower respiratory tract infections
3908	LAMA2	HP:0002791	Hypoventilation
3908	LAMA2	HP:0002751	Kyphoscoliosis
3908	LAMA2	HP:0031237	Internally nucleated skeletal muscle fibers
3908	LAMA2	HP:0002747	Respiratory insufficiency due to muscle weakness
3908	LAMA2	HP:0002020	Gastroesophageal reflux
3908	LAMA2	HP:0002015	Dysphagia
3908	LAMA2	HP:0003307	Hyperlordosis
3908	LAMA2	HP:0100543	Cognitive impairment
3908	LAMA2	HP:0002092	Pulmonary arterial hypertension
3908	LAMA2	HP:0002093	Respiratory insufficiency
3908	LAMA2	HP:0003391	Gowers sign
3908	LAMA2	HP:0002058	Myopathic facies
3908	LAMA2	HP:0002121	Generalized non-motor (absence) seizure
3908	LAMA2	HP:0003457	EMG abnormality
3908	LAMA2	HP:0002181	Cerebral edema
3908	LAMA2	HP:0003577	Congenital onset
3908	LAMA2	HP:0003581	Adult onset
3908	LAMA2	HP:0003551	Difficulty climbing stairs
3908	LAMA2	HP:0004878	Intercostal muscle weakness
3908	LAMA2	HP:0003560	Muscular dystrophy
3908	LAMA2	HP:0003557	Increased variability in muscle fiber diameter
3908	LAMA2	HP:0100750	Atelectasis
3908	LAMA2	HP:0010628	Facial palsy
3908	LAMA2	HP:0002375	Hypokinesia
3908	LAMA2	HP:0003677	Slowly progressive
3908	LAMA2	HP:0010808	Protruding tongue
3908	LAMA2	HP:0100614	Myositis
3908	LAMA2	HP:0007141	Sensorimotor neuropathy
3908	LAMA2	HP:0010754	Abnormality of the temporomandibular joint
3908	LAMA2	HP:0007103	Hypointensity of cerebral white matter on MRI
3908	LAMA2	HP:0003621	Juvenile onset
3908	LAMA2	HP:0006879	Pontocerebellar atrophy
3908	LAMA2	HP:0000649	Abnormality of visual evoked potentials
3908	LAMA2	HP:0001939	Abnormality of metabolism/homeostasis
3908	LAMA2	HP:0000602	Ophthalmoplegia
3908	LAMA2	HP:0009046	Difficulty running
3908	LAMA2	HP:0012664	Reduced left ventricular ejection fraction
3908	LAMA2	HP:0009025	Increased connective tissue
3908	LAMA2	HP:0004325	Decreased body weight
3908	LAMA2	HP:0031936	Delayed ability to walk
3908	LAMA2	HP:0012747	Abnormal brainstem MRI signal intensity
3908	LAMA2	HP:0000762	Decreased nerve conduction velocity
3908	LAMA2	HP:0011463	Childhood onset
3908	LAMA2	HP:0040078	Axonal degeneration
3908	LAMA2	HP:0003236	Elevated circulating creatine kinase concentration
3908	LAMA2	HP:0100295	Muscle fiber atrophy
3908	LAMA2	HP:0100297	Increased endomysial connective tissue
3908	LAMA2	HP:0011675	Arrhythmia
3908	LAMA2	HP:0002808	Kyphosis
3908	LAMA2	HP:0030091	Absent muscle fiber merosin
3908	LAMA2	HP:0002878	Respiratory failure
3908	LAMA2	HP:0002835	Aspiration
3908	LAMA2	HP:0005216	Impaired mastication
3908	LAMA2	HP:0001612	Weak cry
3908	LAMA2	HP:0002987	Elbow flexion contracture
3908	LAMA2	HP:0001638	Cardiomyopathy
3908	LAMA2	HP:0030234	Highly elevated creatine kinase
3909	LAMA3	HP:0001159	Syndactyly
3909	LAMA3	HP:0100806	Sepsis
3909	LAMA3	HP:0001250	Seizure
3909	LAMA3	HP:0007383	Congenital localized absence of skin
3909	LAMA3	HP:0008682	Renal tubular epithelial necrosis
3909	LAMA3	HP:0006000	Ureteral obstruction
3909	LAMA3	HP:0001211	Abnormal fingertip morphology
3909	LAMA3	HP:0003819	Death in childhood
3909	LAMA3	HP:0000081	Duplicated collecting system
3909	LAMA3	HP:0000072	Hydroureter
3909	LAMA3	HP:0000070	Ureterocele
3909	LAMA3	HP:0033804	Subepidermal blistering
3909	LAMA3	HP:0000014	Abnormality of the bladder
3909	LAMA3	HP:0000016	Urinary retention
3909	LAMA3	HP:0000010	Recurrent urinary tract infections
3909	LAMA3	HP:0000007	Autosomal recessive inheritance
3909	LAMA3	HP:0000003	Multicystic kidney dysplasia
3909	LAMA3	HP:0006297	Enamel hypoplasia
3909	LAMA3	HP:0000126	Hydronephrosis
3909	LAMA3	HP:0000107	Renal cyst
3909	LAMA3	HP:0002021	Pyloric stenosis
3909	LAMA3	HP:0002019	Constipation
3909	LAMA3	HP:0002013	Vomiting
3909	LAMA3	HP:0003341	Lamina lucida cleavage
3909	LAMA3	HP:0002087	Abnormality of the upper respiratory tract
3909	LAMA3	HP:0002098	Respiratory distress
3909	LAMA3	HP:0002094	Dyspnea
3909	LAMA3	HP:0002090	Pneumonia
3909	LAMA3	HP:0002043	Esophageal stricture
3909	LAMA3	HP:0100518	Dysuria
3909	LAMA3	HP:0010476	Aplasia/Hypoplasia of the bladder
3909	LAMA3	HP:0002107	Pneumothorax
3909	LAMA3	HP:0002164	Nail dysplasia
3909	LAMA3	HP:0011830	Abnormal oral mucosa morphology
3909	LAMA3	HP:0003577	Congenital onset
3909	LAMA3	HP:0002231	Sparse body hair
3909	LAMA3	HP:0008404	Nail dystrophy
3909	LAMA3	HP:0200097	Oral mucosal blisters
3909	LAMA3	HP:0430007	Symblepharon
3909	LAMA3	HP:0008390	Recurrent loss of toenails and fingernails
3909	LAMA3	HP:0001056	Milia
3909	LAMA3	HP:0001057	Aplasia cutis congenita
3909	LAMA3	HP:0001030	Fragile skin
3909	LAMA3	HP:0001000	Abnormality of skin pigmentation
3909	LAMA3	HP:0200035	Skin plaque
3909	LAMA3	HP:0001075	Atrophic scars
3909	LAMA3	HP:0200042	Skin ulcer
3909	LAMA3	HP:0200041	Skin erosion
3909	LAMA3	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes
3909	LAMA3	HP:0003623	Neonatal onset
3909	LAMA3	HP:0001944	Dehydration
3909	LAMA3	HP:0001955	Unexplained fevers
3909	LAMA3	HP:0001903	Anemia
3909	LAMA3	HP:0000670	Carious teeth
3909	LAMA3	HP:0004386	Gastrointestinal inflammation
3909	LAMA3	HP:0004395	Malnutrition
3909	LAMA3	HP:0000705	Amelogenesis imperfecta
3909	LAMA3	HP:0003111	Abnormal blood ion concentration
3909	LAMA3	HP:0004552	Scarring alopecia of scalp
3909	LAMA3	HP:0000999	Pyoderma
3909	LAMA3	HP:0010307	Stridor
3909	LAMA3	HP:0000982	Palmoplantar keratoderma
3909	LAMA3	HP:0000969	Edema
3909	LAMA3	HP:0000939	Osteoporosis
3909	LAMA3	HP:0034363	Corneal pterygium
3909	LAMA3	HP:0008066	Abnormal blistering of the skin
3909	LAMA3	HP:0001597	Abnormality of the nail
3909	LAMA3	HP:0001596	Alopecia
3909	LAMA3	HP:0012227	Urethral stricture
3909	LAMA3	HP:0001581	Recurrent skin infections
3909	LAMA3	HP:0002878	Respiratory failure
3909	LAMA3	HP:0002860	Squamous cell carcinoma
3909	LAMA3	HP:0001522	Death in infancy
3909	LAMA3	HP:0001508	Failure to thrive
3909	LAMA3	HP:0001510	Growth delay
3909	LAMA3	HP:0001609	Hoarse voice
3909	LAMA3	HP:0001602	Laryngeal stenosis
3909	LAMA3	HP:0001615	Hoarse cry
3909	LAMA3	HP:0001612	Weak cry
3909	LAMA3	HP:0031446	Erosion of oral mucosa
3909	LAMA3	HP:0001644	Dilated cardiomyopathy
3909	LAMA3	HP:0001662	Bradycardia
3909	LAMA3	HP:0004057	Mitten deformity
3909	LAMA3	HP:0000481	Abnormal cornea morphology
3909	LAMA3	HP:0001798	Anonychia
3909	LAMA3	HP:0001818	Paronychia
3910	LAMA4	HP:0000006	Autosomal dominant inheritance
3910	LAMA4	HP:0100578	Lipoatrophy
3910	LAMA4	HP:0003457	EMG abnormality
3910	LAMA4	HP:0003596	Middle age onset
3910	LAMA4	HP:0003584	Late onset
3910	LAMA4	HP:0012664	Reduced left ventricular ejection fraction
3910	LAMA4	HP:0011462	Young adult onset
3910	LAMA4	HP:0003198	Myopathy
3910	LAMA4	HP:0003236	Elevated circulating creatine kinase concentration
3910	LAMA4	HP:0000982	Palmoplantar keratoderma
3910	LAMA4	HP:0001644	Dilated cardiomyopathy
3910	LAMA4	HP:0000407	Sensorineural hearing impairment
3910	LAMA4	HP:0001874	Abnormality of neutrophils
3911	LAMA5	HP:0003774	Stage 5 chronic kidney disease
3911	LAMA5	HP:0003865	Bowed humerus
3911	LAMA5	HP:0000097	Focal segmental glomerulosclerosis
3911	LAMA5	HP:0000054	Micropenis
3911	LAMA5	HP:0000049	Shawl scrotum
3911	LAMA5	HP:0000007	Autosomal recessive inheritance
3911	LAMA5	HP:0000100	Nephrotic syndrome
3911	LAMA5	HP:0003316	Butterfly vertebrae
3911	LAMA5	HP:0009487	Ulnar deviation of the hand
3911	LAMA5	HP:0003417	Coronal cleft vertebrae
3911	LAMA5	HP:0003577	Congenital onset
3911	LAMA5	HP:0002240	Hepatomegaly
3911	LAMA5	HP:0010034	Short 1st metacarpal
3911	LAMA5	HP:0003031	Ulnar bowing
3911	LAMA5	HP:0011463	Childhood onset
3911	LAMA5	HP:0000773	Short ribs
3911	LAMA5	HP:0005736	Short tibia
3911	LAMA5	HP:0000926	Platyspondyly
3911	LAMA5	HP:0004482	Relative macrocephaly
3911	LAMA5	HP:0000879	Short sternum
3911	LAMA5	HP:0000883	Thin ribs
3911	LAMA5	HP:0003274	Hypoplastic acetabulae
3911	LAMA5	HP:0000938	Osteopenia
3911	LAMA5	HP:0002804	Arthrogryposis multiplex congenita
3911	LAMA5	HP:0006385	Short lower limbs
3911	LAMA5	HP:0002866	Hypoplastic iliac wing
3911	LAMA5	HP:0001511	Intrauterine growth retardation
3911	LAMA5	HP:0002980	Femoral bowing
3911	LAMA5	HP:0001631	Atrial septal defect
3911	LAMA5	HP:0006610	Wide intermamillary distance
3911	LAMA5	HP:0005280	Depressed nasal bridge
3911	LAMA5	HP:0000476	Cystic hygroma
3911	LAMA5	HP:0000474	Thickened nuchal skin fold
3911	LAMA5	HP:0000470	Short neck
3911	LAMA5	HP:0000465	Webbed neck
3911	LAMA5	HP:0001762	Talipes equinovarus
3911	LAMA5	HP:0005474	Decreased calvarial ossification
3911	LAMA5	HP:0012588	Steroid-resistant nephrotic syndrome
3912	LAMB1	HP:0007260	Type II lissencephaly
3912	LAMB1	HP:0001270	Motor delay
3912	LAMB1	HP:0001250	Seizure
3912	LAMB1	HP:0001252	Hypotonia
3912	LAMB1	HP:0001249	Intellectual disability
3912	LAMB1	HP:0001263	Global developmental delay
3912	LAMB1	HP:0001258	Spastic paraplegia
3912	LAMB1	HP:0032398	Dysgyria
3912	LAMB1	HP:0002500	Abnormal cerebral white matter morphology
3912	LAMB1	HP:0032409	Subcortical band heterotopia
3912	LAMB1	HP:0000007	Autosomal recessive inheritance
3912	LAMB1	HP:0001320	Cerebellar vermis hypoplasia
3912	LAMB1	HP:0001321	Cerebellar hypoplasia
3912	LAMB1	HP:0002085	Occipital encephalocele
3912	LAMB1	HP:0002079	Hypoplasia of the corpus callosum
3912	LAMB1	HP:0002132	Porencephalic cyst
3912	LAMB1	HP:0003457	EMG abnormality
3912	LAMB1	HP:0002282	Gray matter heterotopia
3912	LAMB1	HP:0002365	Hypoplasia of the brainstem
3912	LAMB1	HP:0003676	Progressive
3912	LAMB1	HP:0002352	Leukoencephalopathy
3912	LAMB1	HP:0000648	Optic atrophy
3912	LAMB1	HP:0011344	Severe global developmental delay
3912	LAMB1	HP:0100307	Cerebellar hemisphere hypoplasia
3912	LAMB1	HP:0000256	Macrocephaly
3912	LAMB1	HP:0000238	Hydrocephalus
3912	LAMB1	HP:0000365	Hearing impairment
3912	LAMB1	HP:0012447	Abnormal myelination
3912	LAMB1	HP:0000518	Cataract
3913	LAMB2	HP:0002460	Distal muscle weakness
3913	LAMB2	HP:0003774	Stage 5 chronic kidney disease
3913	LAMB2	HP:0001104	Macular hypoplasia
3913	LAMB2	HP:0002421	Poor head control
3913	LAMB2	HP:0003701	Proximal muscle weakness
3913	LAMB2	HP:0001270	Motor delay
3913	LAMB2	HP:0001284	Areflexia
3913	LAMB2	HP:0001252	Hypotonia
3913	LAMB2	HP:0001249	Intellectual disability
3913	LAMB2	HP:0001265	Hyporeflexia
3913	LAMB2	HP:0001263	Global developmental delay
3913	LAMB2	HP:0002515	Waddling gait
3913	LAMB2	HP:0003803	Type 1 muscle fiber predominance
3913	LAMB2	HP:0003819	Death in childhood
3913	LAMB2	HP:0000093	Proteinuria
3913	LAMB2	HP:0025358	Uveal ectropion
3913	LAMB2	HP:0001324	Muscle weakness
3913	LAMB2	HP:0000007	Autosomal recessive inheritance
3913	LAMB2	HP:0002650	Scoliosis
3913	LAMB2	HP:0002643	Neonatal respiratory distress
3913	LAMB2	HP:0025492	Microcoria
3913	LAMB2	HP:0001488	Bilateral ptosis
3913	LAMB2	HP:0007676	Hypoplasia of the iris
3913	LAMB2	HP:0006251	Limited wrist extension
3913	LAMB2	HP:0002783	Recurrent lower respiratory tract infections
3913	LAMB2	HP:0002791	Hypoventilation
3913	LAMB2	HP:0000100	Nephrotic syndrome
3913	LAMB2	HP:0002033	Poor suck
3913	LAMB2	HP:0003327	Axial muscle weakness
3913	LAMB2	HP:0002015	Dysphagia
3913	LAMB2	HP:0003324	Generalized muscle weakness
3913	LAMB2	HP:0002098	Respiratory distress
3913	LAMB2	HP:0002092	Pulmonary arterial hypertension
3913	LAMB2	HP:0002093	Respiratory insufficiency
3913	LAMB2	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction
3913	LAMB2	HP:0003388	Easy fatigability
3913	LAMB2	HP:0003443	Decreased size of nerve terminals
3913	LAMB2	HP:0003436	Prolonged miniature endplate currents
3913	LAMB2	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
3913	LAMB2	HP:0010535	Sleep apnea
3913	LAMB2	HP:0004719	Hyperechogenic kidneys
3913	LAMB2	HP:0003577	Congenital onset
3913	LAMB2	HP:0003554	Type 2 muscle fiber atrophy
3913	LAMB2	HP:0011968	Feeding difficulties
3913	LAMB2	HP:0010628	Facial palsy
3913	LAMB2	HP:0003691	Scapular winging
3913	LAMB2	HP:0002359	Frequent falls
3913	LAMB2	HP:0033454	Tube feeding
3913	LAMB2	HP:0003623	Neonatal onset
3913	LAMB2	HP:0000639	Nystagmus
3913	LAMB2	HP:0001967	Diffuse mesangial sclerosis
3913	LAMB2	HP:0000618	Blindness
3913	LAMB2	HP:0001999	Abnormal facial shape
3913	LAMB2	HP:0003075	Hypoproteinemia
3913	LAMB2	HP:0003198	Myopathy
3913	LAMB2	HP:0012841	Retinal vascular tortuosity
3913	LAMB2	HP:0011502	Posterior lenticonus
3913	LAMB2	HP:0000822	Hypertension
3913	LAMB2	HP:0003202	Skeletal muscle atrophy
3913	LAMB2	HP:0000969	Edema
3913	LAMB2	HP:0007774	Hypoplasia of the ciliary body
3913	LAMB2	HP:0002815	Abnormality of the knee
3913	LAMB2	HP:0000253	Progressive microcephaly
3913	LAMB2	HP:0000252	Microcephaly
3913	LAMB2	HP:0000218	High palate
3913	LAMB2	HP:0002875	Exertional dyspnea
3913	LAMB2	HP:0001562	Oligohydramnios
3913	LAMB2	HP:0000207	Triangular mouth
3913	LAMB2	HP:0012379	Abnormal circulating enzyme concentration or activity
3913	LAMB2	HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
3913	LAMB2	HP:0007894	Hypopigmentation of the fundus
3913	LAMB2	HP:0005216	Impaired mastication
3913	LAMB2	HP:0001612	Weak cry
3913	LAMB2	HP:0011003	High myopia
3913	LAMB2	HP:0001667	Right ventricular hypertrophy
3913	LAMB2	HP:0000303	Mandibular prognathia
3913	LAMB2	HP:0007941	Limited extraocular movements
3913	LAMB2	HP:0032988	Persistent head lag
3913	LAMB2	HP:0007968	Remnants of the hyaloid vascular system
3913	LAMB2	HP:0000486	Strabismus
3913	LAMB2	HP:0030211	Slow pupillary light response
3913	LAMB2	HP:0030237	Hand muscle weakness
3913	LAMB2	HP:0000467	Neck muscle weakness
3913	LAMB2	HP:0001762	Talipes equinovarus
3913	LAMB2	HP:0000518	Cataract
3913	LAMB2	HP:0000508	Ptosis
3913	LAMB2	HP:0000597	Ophthalmoparesis
3913	LAMB2	HP:0000558	Rieger anomaly
3913	LAMB2	HP:0000573	Retinal hemorrhage
3913	LAMB2	HP:0000568	Microphthalmia
3913	LAMB2	HP:0000541	Retinal detachment
3913	LAMB2	HP:0000545	Myopia
3914	LAMB3	HP:0001159	Syndactyly
3914	LAMB3	HP:0100806	Sepsis
3914	LAMB3	HP:0001250	Seizure
3914	LAMB3	HP:0007383	Congenital localized absence of skin
3914	LAMB3	HP:0008682	Renal tubular epithelial necrosis
3914	LAMB3	HP:0006000	Ureteral obstruction
3914	LAMB3	HP:0001211	Abnormal fingertip morphology
3914	LAMB3	HP:0006089	Palmar hyperhidrosis
3914	LAMB3	HP:0000081	Duplicated collecting system
3914	LAMB3	HP:0000072	Hydroureter
3914	LAMB3	HP:0000070	Ureterocele
3914	LAMB3	HP:0000014	Abnormality of the bladder
3914	LAMB3	HP:0000016	Urinary retention
3914	LAMB3	HP:0007556	Plantar hyperkeratosis
3914	LAMB3	HP:0000010	Recurrent urinary tract infections
3914	LAMB3	HP:0000007	Autosomal recessive inheritance
3914	LAMB3	HP:0000003	Multicystic kidney dysplasia
3914	LAMB3	HP:0000006	Autosomal dominant inheritance
3914	LAMB3	HP:0006311	Generalized microdontia
3914	LAMB3	HP:0006297	Enamel hypoplasia
3914	LAMB3	HP:0000126	Hydronephrosis
3914	LAMB3	HP:0000107	Renal cyst
3914	LAMB3	HP:0002021	Pyloric stenosis
3914	LAMB3	HP:0002019	Constipation
3914	LAMB3	HP:0002013	Vomiting
3914	LAMB3	HP:0003341	Lamina lucida cleavage
3914	LAMB3	HP:0002087	Abnormality of the upper respiratory tract
3914	LAMB3	HP:0002098	Respiratory distress
3914	LAMB3	HP:0002094	Dyspnea
3914	LAMB3	HP:0002090	Pneumonia
3914	LAMB3	HP:0002043	Esophageal stricture
3914	LAMB3	HP:0100518	Dysuria
3914	LAMB3	HP:0010476	Aplasia/Hypoplasia of the bladder
3914	LAMB3	HP:0002107	Pneumothorax
3914	LAMB3	HP:0002164	Nail dysplasia
3914	LAMB3	HP:0100490	Camptodactyly of finger
3914	LAMB3	HP:0011830	Abnormal oral mucosa morphology
3914	LAMB3	HP:0003577	Congenital onset
3914	LAMB3	HP:0002232	Patchy alopecia
3914	LAMB3	HP:0002231	Sparse body hair
3914	LAMB3	HP:0008404	Nail dystrophy
3914	LAMB3	HP:0009722	Dental enamel pits
3914	LAMB3	HP:0200097	Oral mucosal blisters
3914	LAMB3	HP:0001056	Milia
3914	LAMB3	HP:0001057	Aplasia cutis congenita
3914	LAMB3	HP:0001030	Fragile skin
3914	LAMB3	HP:0001000	Abnormality of skin pigmentation
3914	LAMB3	HP:0200035	Skin plaque
3914	LAMB3	HP:0001075	Atrophic scars
3914	LAMB3	HP:0200041	Skin erosion
3914	LAMB3	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes
3914	LAMB3	HP:0001944	Dehydration
3914	LAMB3	HP:0001955	Unexplained fevers
3914	LAMB3	HP:0001903	Anemia
3914	LAMB3	HP:0000679	Taurodontia
3914	LAMB3	HP:0000670	Carious teeth
3914	LAMB3	HP:0000668	Hypodontia
3914	LAMB3	HP:0004386	Gastrointestinal inflammation
3914	LAMB3	HP:0004395	Malnutrition
3914	LAMB3	HP:0000705	Amelogenesis imperfecta
3914	LAMB3	HP:0003111	Abnormal blood ion concentration
3914	LAMB3	HP:0004552	Scarring alopecia of scalp
3914	LAMB3	HP:0000999	Pyoderma
3914	LAMB3	HP:0010307	Stridor
3914	LAMB3	HP:0000982	Palmoplantar keratoderma
3914	LAMB3	HP:0000951	Abnormality of the skin
3914	LAMB3	HP:0000969	Edema
3914	LAMB3	HP:0000939	Osteoporosis
3914	LAMB3	HP:0008066	Abnormal blistering of the skin
3914	LAMB3	HP:0001597	Abnormality of the nail
3914	LAMB3	HP:0001596	Alopecia
3914	LAMB3	HP:0012227	Urethral stricture
3914	LAMB3	HP:0001581	Recurrent skin infections
3914	LAMB3	HP:0002878	Respiratory failure
3914	LAMB3	HP:0002860	Squamous cell carcinoma
3914	LAMB3	HP:0001522	Death in infancy
3914	LAMB3	HP:0001508	Failure to thrive
3914	LAMB3	HP:0001510	Growth delay
3914	LAMB3	HP:0001609	Hoarse voice
3914	LAMB3	HP:0001602	Laryngeal stenosis
3914	LAMB3	HP:0001615	Hoarse cry
3914	LAMB3	HP:0031446	Erosion of oral mucosa
3914	LAMB3	HP:0001644	Dilated cardiomyopathy
3914	LAMB3	HP:0001662	Bradycardia
3914	LAMB3	HP:0004057	Mitten deformity
3914	LAMB3	HP:0000481	Abnormal cornea morphology
3914	LAMB3	HP:0001798	Anonychia
3914	LAMB3	HP:0001808	Fragile nails
3914	LAMB3	HP:0001818	Paronychia
3918	LAMC2	HP:0001159	Syndactyly
3918	LAMC2	HP:0100806	Sepsis
3918	LAMC2	HP:0001250	Seizure
3918	LAMC2	HP:0007383	Congenital localized absence of skin
3918	LAMC2	HP:0008682	Renal tubular epithelial necrosis
3918	LAMC2	HP:0006000	Ureteral obstruction
3918	LAMC2	HP:0001211	Abnormal fingertip morphology
3918	LAMC2	HP:0000081	Duplicated collecting system
3918	LAMC2	HP:0000072	Hydroureter
3918	LAMC2	HP:0000070	Ureterocele
3918	LAMC2	HP:0000014	Abnormality of the bladder
3918	LAMC2	HP:0000016	Urinary retention
3918	LAMC2	HP:0000010	Recurrent urinary tract infections
3918	LAMC2	HP:0000007	Autosomal recessive inheritance
3918	LAMC2	HP:0000003	Multicystic kidney dysplasia
3918	LAMC2	HP:0006297	Enamel hypoplasia
3918	LAMC2	HP:0000126	Hydronephrosis
3918	LAMC2	HP:0000107	Renal cyst
3918	LAMC2	HP:0002021	Pyloric stenosis
3918	LAMC2	HP:0002019	Constipation
3918	LAMC2	HP:0002013	Vomiting
3918	LAMC2	HP:0003341	Lamina lucida cleavage
3918	LAMC2	HP:0002087	Abnormality of the upper respiratory tract
3918	LAMC2	HP:0002098	Respiratory distress
3918	LAMC2	HP:0002094	Dyspnea
3918	LAMC2	HP:0002090	Pneumonia
3918	LAMC2	HP:0002043	Esophageal stricture
3918	LAMC2	HP:0100518	Dysuria
3918	LAMC2	HP:0010476	Aplasia/Hypoplasia of the bladder
3918	LAMC2	HP:0002107	Pneumothorax
3918	LAMC2	HP:0002164	Nail dysplasia
3918	LAMC2	HP:0011830	Abnormal oral mucosa morphology
3918	LAMC2	HP:0003577	Congenital onset
3918	LAMC2	HP:0002231	Sparse body hair
3918	LAMC2	HP:0008404	Nail dystrophy
3918	LAMC2	HP:0200097	Oral mucosal blisters
3918	LAMC2	HP:0001056	Milia
3918	LAMC2	HP:0001057	Aplasia cutis congenita
3918	LAMC2	HP:0001030	Fragile skin
3918	LAMC2	HP:0001000	Abnormality of skin pigmentation
3918	LAMC2	HP:0200035	Skin plaque
3918	LAMC2	HP:0100613	Death in early adulthood
3918	LAMC2	HP:0001075	Atrophic scars
3918	LAMC2	HP:0200041	Skin erosion
3918	LAMC2	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes
3918	LAMC2	HP:0001944	Dehydration
3918	LAMC2	HP:0001955	Unexplained fevers
3918	LAMC2	HP:0001903	Anemia
3918	LAMC2	HP:0000670	Carious teeth
3918	LAMC2	HP:0004386	Gastrointestinal inflammation
3918	LAMC2	HP:0004395	Malnutrition
3918	LAMC2	HP:0003111	Abnormal blood ion concentration
3918	LAMC2	HP:0004552	Scarring alopecia of scalp
3918	LAMC2	HP:0000999	Pyoderma
3918	LAMC2	HP:0010307	Stridor
3918	LAMC2	HP:0000982	Palmoplantar keratoderma
3918	LAMC2	HP:0000969	Edema
3918	LAMC2	HP:0000939	Osteoporosis
3918	LAMC2	HP:0008066	Abnormal blistering of the skin
3918	LAMC2	HP:0001597	Abnormality of the nail
3918	LAMC2	HP:0001596	Alopecia
3918	LAMC2	HP:0012227	Urethral stricture
3918	LAMC2	HP:0001581	Recurrent skin infections
3918	LAMC2	HP:0002878	Respiratory failure
3918	LAMC2	HP:0002860	Squamous cell carcinoma
3918	LAMC2	HP:0001522	Death in infancy
3918	LAMC2	HP:0001508	Failure to thrive
3918	LAMC2	HP:0001510	Growth delay
3918	LAMC2	HP:0001609	Hoarse voice
3918	LAMC2	HP:0001602	Laryngeal stenosis
3918	LAMC2	HP:0001615	Hoarse cry
3918	LAMC2	HP:0031446	Erosion of oral mucosa
3918	LAMC2	HP:0001644	Dilated cardiomyopathy
3918	LAMC2	HP:0001662	Bradycardia
3918	LAMC2	HP:0004057	Mitten deformity
3918	LAMC2	HP:0000481	Abnormal cornea morphology
3918	LAMC2	HP:0001798	Anonychia
3918	LAMC2	HP:0001818	Paronychia
3920	LAMP2	HP:0002460	Distal muscle weakness
3920	LAMP2	HP:0007210	Lower limb amyotrophy
3920	LAMP2	HP:0003701	Proximal muscle weakness
3920	LAMP2	HP:0003700	Generalized amyotrophy
3920	LAMP2	HP:0003710	Exercise-induced muscle cramps
3920	LAMP2	HP:0001288	Gait disturbance
3920	LAMP2	HP:0001279	Syncope
3920	LAMP2	HP:0001249	Intellectual disability
3920	LAMP2	HP:0001263	Global developmental delay
3920	LAMP2	HP:0001324	Muscle weakness
3920	LAMP2	HP:0001423	X-linked dominant inheritance
3920	LAMP2	HP:0100543	Cognitive impairment
3920	LAMP2	HP:0011706	Second degree atrioventricular block
3920	LAMP2	HP:0003458	EMG: myopathic abnormalities
3920	LAMP2	HP:0004756	Ventricular tachycardia
3920	LAMP2	HP:0010547	Muscle flaccidity
3920	LAMP2	HP:0003546	Exercise intolerance
3920	LAMP2	HP:0003690	Limb muscle weakness
3920	LAMP2	HP:0002375	Hypokinesia
3920	LAMP2	HP:0025075	Increased QRS voltage
3920	LAMP2	HP:0003621	Juvenile onset
3920	LAMP2	HP:0012666	Severely reduced left ventricular ejection fraction
3920	LAMP2	HP:0011463	Childhood onset
3920	LAMP2	HP:0003236	Elevated circulating creatine kinase concentration
3920	LAMP2	HP:0006543	Cardiorespiratory arrest
3920	LAMP2	HP:0001692	Atrial arrhythmia
3920	LAMP2	HP:0001685	Myocardial fibrosis
3920	LAMP2	HP:0001678	Atrioventricular block
3920	LAMP2	HP:0001644	Dilated cardiomyopathy
3920	LAMP2	HP:0001640	Cardiomegaly
3920	LAMP2	HP:0001639	Hypertrophic cardiomyopathy
3920	LAMP2	HP:0001635	Congestive heart failure
3920	LAMP2	HP:0001700	Myocardial necrosis
3920	LAMP2	HP:0001716	Wolff-Parkinson-White syndrome
3920	LAMP2	HP:0025717	Skeletal muscle autophagosome accumulation
3920	LAMP2	HP:0001761	Pes cavus
3920	LAMP2	HP:0000505	Visual impairment
3921	RPSA	HP:0000006	Autosomal dominant inheritance
3921	RPSA	HP:0032550	Howell-Jolly bodies
3921	RPSA	HP:0003593	Infantile onset
3921	RPSA	HP:0001746	Asplenia
3921	RPSA	HP:0001894	Thrombocytosis
3930	LBR	HP:0001169	Broad palm
3930	LBR	HP:0001156	Brachydactyly
3930	LBR	HP:0001162	Postaxial hand polydactyly
3930	LBR	HP:0010943	Echogenic fetal bowel
3930	LBR	HP:0010880	Increased nuchal translucency
3930	LBR	HP:0003761	Calcinosis
3930	LBR	HP:0001250	Seizure
3930	LBR	HP:0001252	Hypotonia
3930	LBR	HP:0001249	Intellectual disability
3930	LBR	HP:0001263	Global developmental delay
3930	LBR	HP:0002570	Steatorrhea
3930	LBR	HP:0008754	Laryngeal calcification
3930	LBR	HP:0007413	Nevus flammeus of the forehead
3930	LBR	HP:0008747	Cartilaginous ossification of larynx
3930	LBR	HP:0007400	Irregular hyperpigmentation
3930	LBR	HP:0100864	Short femoral neck
3930	LBR	HP:0100869	Palmar telangiectasia
3930	LBR	HP:0003865	Bowed humerus
3930	LBR	HP:0003826	Stillbirth
3930	LBR	HP:0003811	Neonatal death
3930	LBR	HP:0001396	Cholestasis
3930	LBR	HP:0001394	Cirrhosis
3930	LBR	HP:0001377	Limited elbow extension
3930	LBR	HP:0001373	Joint dislocation
3930	LBR	HP:0001369	Arthritis
3930	LBR	HP:0002677	Small foramen magnum
3930	LBR	HP:0002694	Sclerosis of skull base
3930	LBR	HP:0001362	Calvarial skull defect
3930	LBR	HP:0002691	Platybasia
3930	LBR	HP:0008890	Severe short-limb dwarfism
3930	LBR	HP:0008873	Disproportionate short-limb short stature
3930	LBR	HP:0000007	Autosomal recessive inheritance
3930	LBR	HP:0000006	Autosomal dominant inheritance
3930	LBR	HP:0002613	Biliary cirrhosis
3930	LBR	HP:0008905	Rhizomelia
3930	LBR	HP:0000164	Abnormality of the dentition
3930	LBR	HP:0005019	Diaphyseal thickening
3930	LBR	HP:0006267	Large placenta
3930	LBR	HP:0002787	Tracheal calcification
3930	LBR	HP:0025406	Asthenia
3930	LBR	HP:0002757	Recurrent fractures
3930	LBR	HP:0001433	Hepatosplenomegaly
3930	LBR	HP:0002020	Gastroesophageal reflux
3930	LBR	HP:0003326	Myalgia
3930	LBR	HP:0002015	Dysphagia
3930	LBR	HP:0002007	Frontal bossing
3930	LBR	HP:0003312	Abnormal form of the vertebral bodies
3930	LBR	HP:0003307	Hyperlordosis
3930	LBR	HP:0003300	Ovoid vertebral bodies
3930	LBR	HP:0011800	Midface retrusion
3930	LBR	HP:0002089	Pulmonary hypoplasia
3930	LBR	HP:0002093	Respiratory insufficiency
3930	LBR	HP:0002069	Bilateral tonic-clonic seizure
3930	LBR	HP:0010442	Polydactyly
3930	LBR	HP:0100569	Abnormally ossified vertebrae
3930	LBR	HP:0100585	Telangiectasia of the skin
3930	LBR	HP:0100579	Mucosal telangiectasiae
3930	LBR	HP:0009487	Ulnar deviation of the hand
3930	LBR	HP:0002101	Abnormal lung lobation
3930	LBR	HP:0003440	Horizontal sacrum
3930	LBR	HP:0003493	Antinuclear antibody positivity
3930	LBR	HP:0011849	Abnormal bone ossification
3930	LBR	HP:0011838	Sclerodactyly
3930	LBR	HP:0003577	Congenital onset
3930	LBR	HP:0002240	Hepatomegaly
3930	LBR	HP:0002239	Gastrointestinal hemorrhage
3930	LBR	HP:0003565	Elevated erythrocyte sedimentation rate
3930	LBR	HP:0100725	Lichenification
3930	LBR	HP:0010659	Patchy variation in bone mineral density
3930	LBR	HP:0011986	Ectopic ossification
3930	LBR	HP:0010655	Epiphyseal stippling
3930	LBR	HP:0003502	Mild short stature
3930	LBR	HP:0002383	Infectious encephalitis
3930	LBR	HP:0002395	Lower limb hyperreflexia
3930	LBR	HP:0001004	Lymphedema
3930	LBR	HP:0009826	Limb undergrowth
3930	LBR	HP:0001097	Keratoconjunctivitis sicca
3930	LBR	HP:0100602	Preeclampsia
3930	LBR	HP:0100603	Toxemia of pregnancy
3930	LBR	HP:0009824	Upper limb undergrowth
3930	LBR	HP:0009803	Short phalanx of finger
3930	LBR	HP:0200042	Skin ulcer
3930	LBR	HP:0008479	Hypoplastic vertebral bodies
3930	LBR	HP:0010766	Ectopic calcification
3930	LBR	HP:0008420	Punctate vertebral calcifications
3930	LBR	HP:0005528	Bone marrow hypocellularity
3930	LBR	HP:0009099	Median cleft palate
3930	LBR	HP:0004295	Abnormal gastric mucosa morphology
3930	LBR	HP:0006895	Lower limb hypertonia
3930	LBR	HP:0001945	Fever
3930	LBR	HP:0001902	Giant platelets
3930	LBR	HP:0010049	Short metacarpal
3930	LBR	HP:0010047	Short 5th metacarpal
3930	LBR	HP:0010055	Broad hallux
3930	LBR	HP:0010041	Short 3rd metacarpal
3930	LBR	HP:0010044	Short 4th metacarpal
3930	LBR	HP:0011354	Generalized abnormality of skin
3930	LBR	HP:0009027	Foot dorsiflexor weakness
3930	LBR	HP:0041159	Fractured rib
3930	LBR	HP:0004331	Decreased skull ossification
3930	LBR	HP:0005619	Thoracolumbar kyphosis
3930	LBR	HP:0030674	Antenatal onset
3930	LBR	HP:0005692	Joint hyperflexibility
3930	LBR	HP:0003015	Flared metaphysis
3930	LBR	HP:0003026	Short long bone
3930	LBR	HP:0003027	Mesomelia
3930	LBR	HP:0003025	Metaphyseal irregularity
3930	LBR	HP:0031936	Delayed ability to walk
3930	LBR	HP:0003021	Metaphyseal cupping
3930	LBR	HP:0009106	Abnormal pelvis bone ossification
3930	LBR	HP:0012789	Hypoplasia of the calcaneus
3930	LBR	HP:0011461	Fetal onset
3930	LBR	HP:0011447	Hyposegmentation of neutrophil nuclei
3930	LBR	HP:0000782	Abnormal scapula morphology
3930	LBR	HP:0000774	Narrow chest
3930	LBR	HP:0000773	Short ribs
3930	LBR	HP:0005716	Lethal skeletal dysplasia
3930	LBR	HP:0000926	Platyspondyly
3930	LBR	HP:0000923	Beaded ribs
3930	LBR	HP:0003186	Inverted nipples
3930	LBR	HP:0003155	Elevated circulating alkaline phosphatase concentration
3930	LBR	HP:0004482	Relative macrocephaly
3930	LBR	HP:0030721	Tetraphocomelia
3930	LBR	HP:0000878	11 pairs of ribs
3930	LBR	HP:0000890	Long clavicles
3930	LBR	HP:0000888	Horizontal ribs
3930	LBR	HP:0100324	Scleroderma
3930	LBR	HP:0030873	Anti-centromere antibody positivity
3930	LBR	HP:0030880	Raynaud phenomenon
3930	LBR	HP:0005855	Multiple prenatal fractures
3930	LBR	HP:0004510	Pancreatic islet-cell hyperplasia
3930	LBR	HP:0004599	Absent or minimally ossified vertebral bodies
3930	LBR	HP:0004598	Supernumerary vertebral ossification centers
3930	LBR	HP:0004592	Thoracic platyspondyly
3930	LBR	HP:0100255	Metaphyseal dysplasia
3930	LBR	HP:0000989	Pruritus
3930	LBR	HP:0000988	Skin rash
3930	LBR	HP:0000952	Jaundice
3930	LBR	HP:0000964	Eczema
3930	LBR	HP:0005807	Absent distal phalanges
3930	LBR	HP:0009381	Short finger
3930	LBR	HP:0000278	Retrognathia
3930	LBR	HP:0000256	Macrocephaly
3930	LBR	HP:0002829	Arthralgia
3930	LBR	HP:0002808	Kyphosis
3930	LBR	HP:0006380	Knee flexion contracture
3930	LBR	HP:0012219	Erythema nodosum
3930	LBR	HP:0001552	Barrel-shaped chest
3930	LBR	HP:0025520	Calcinosis cutis
3930	LBR	HP:0000217	Xerostomia
3930	LBR	HP:0000212	Gingival overgrowth
3930	LBR	HP:0000214	Lip telangiectasia
3930	LBR	HP:0001561	Polyhydramnios
3930	LBR	HP:0002857	Genu valgum
3930	LBR	HP:0001541	Ascites
3930	LBR	HP:0001537	Umbilical hernia
3930	LBR	HP:0001538	Protuberant abdomen
3930	LBR	HP:0001508	Failure to thrive
3930	LBR	HP:0012378	Fatigue
3930	LBR	HP:0012385	Camptodactyly
3930	LBR	HP:0005257	Thoracic hypoplasia
3930	LBR	HP:0006559	Hepatic calcification
3930	LBR	HP:0002944	Thoracolumbar scoliosis
3930	LBR	HP:0002916	Abnormality of chromosome segregation
3930	LBR	HP:0002910	Elevated hepatic transaminase
3930	LBR	HP:0002904	Hyperbilirubinemia
3930	LBR	HP:0000369	Low-set ears
3930	LBR	HP:0000336	Prominent supraorbital ridges
3930	LBR	HP:0000348	High forehead
3930	LBR	HP:0000347	Micrognathia
3930	LBR	HP:0002983	Micromelia
3930	LBR	HP:0002980	Femoral bowing
3930	LBR	HP:0000316	Hypertelorism
3930	LBR	HP:0000327	Hypoplasia of the maxilla
3930	LBR	HP:0002986	Radial bowing
3930	LBR	HP:0001629	Ventricular septal defect
3930	LBR	HP:0030167	Antimitochondrial antibody positivity
3930	LBR	HP:0006619	Anterior rib punctate calcifications
3930	LBR	HP:0006610	Wide intermamillary distance
3930	LBR	HP:0006637	Sternal punctate calcifications
3930	LBR	HP:0006646	Costal cartilage calcification
3930	LBR	HP:0000403	Recurrent otitis media
3930	LBR	HP:0005280	Depressed nasal bridge
3930	LBR	HP:0000486	Strabismus
3930	LBR	HP:0000476	Cystic hygroma
3930	LBR	HP:0001790	Nonimmune hydrops fetalis
3930	LBR	HP:0001789	Hydrops fetalis
3930	LBR	HP:0000457	Depressed nasal ridge
3930	LBR	HP:0025710	Late young adult onset
3930	LBR	HP:0001744	Splenomegaly
3930	LBR	HP:0001761	Pes cavus
3930	LBR	HP:0001830	Postaxial foot polydactyly
3930	LBR	HP:0011220	Prominent forehead
3930	LBR	HP:0001888	Lymphopenia
3930	LBR	HP:0001881	Abnormal leukocyte morphology
3930	LBR	HP:0001883	Talipes
3930	LBR	HP:0001874	Abnormality of neutrophils
3930	LBR	HP:0001873	Thrombocytopenia
3930	LBR	HP:0001875	Neutropenia
3931	LCAT	HP:0000083	Renal insufficiency
3931	LCAT	HP:0000093	Proteinuria
3931	LCAT	HP:0000007	Autosomal recessive inheritance
3931	LCAT	HP:0002621	Atherosclerosis
3931	LCAT	HP:0025433	Decreased lecithin cholesterol acyl transferase level
3931	LCAT	HP:0002716	Lymphadenopathy
3931	LCAT	HP:0003362	Increased VLDL cholesterol concentration
3931	LCAT	HP:0002155	Hypertriglyceridemia
3931	LCAT	HP:0002240	Hepatomegaly
3931	LCAT	HP:0003581	Adult onset
3931	LCAT	HP:0003651	Foam cells
3931	LCAT	HP:0001084	Corneal arcus
3931	LCAT	HP:0003141	Increased LDL cholesterol concentration
3931	LCAT	HP:0003233	Decreased HDL cholesterol concentration
3931	LCAT	HP:0007759	Opacification of the corneal stroma
3931	LCAT	HP:0001681	Angina pectoris
3931	LCAT	HP:0007957	Corneal opacity
3931	LCAT	HP:0001744	Splenomegaly
3931	LCAT	HP:0000505	Visual impairment
3931	LCAT	HP:0001895	Normochromic anemia
3931	LCAT	HP:0001878	Hemolytic anemia
3932	LCK	HP:0025188	Retinal vasculitis
3932	LCK	HP:0000007	Autosomal recessive inheritance
3932	LCK	HP:0002783	Recurrent lower respiratory tract infections
3932	LCK	HP:0002788	Recurrent upper respiratory tract infections
3932	LCK	HP:0002720	Decreased circulating IgA level
3932	LCK	HP:0002721	Immunodeficiency
3932	LCK	HP:0002014	Diarrhea
3932	LCK	HP:0003593	Infantile onset
3932	LCK	HP:0009098	Chronic oral candidiasis
3932	LCK	HP:0001945	Fever
3932	LCK	HP:0001903	Anemia
3932	LCK	HP:0004315	Decreased circulating IgG level
3932	LCK	HP:0004385	Protracted diarrhea
3932	LCK	HP:0011463	Childhood onset
3932	LCK	HP:0030005	Capillary leak
3932	LCK	HP:0001541	Ascites
3932	LCK	HP:0001508	Failure to thrive
3932	LCK	HP:0002850	Decreased circulating total IgM
3932	LCK	HP:0025615	Abscess
3932	LCK	HP:0002960	Autoimmunity
3932	LCK	HP:0012490	Panniculitis
3932	LCK	HP:0001701	Pericarditis
3932	LCK	HP:0005407	Decreased proportion of CD4-positive helper T cells
3932	LCK	HP:0005479	Decreased circulating IgE
3932	LCK	HP:0001873	Thrombocytopenia
3937	LCP2	HP:0032218	Decreased proportion of CD4-positive T cells
3937	LCP2	HP:0100838	Recurrent cutaneous abscess formation
3937	LCP2	HP:0000007	Autosomal recessive inheritance
3937	LCP2	HP:0012178	Reduced natural killer cell activity
3937	LCP2	HP:0002719	Recurrent infections
3937	LCP2	HP:0002721	Immunodeficiency
3937	LCP2	HP:0008320	Impaired collagen-induced platelet aggregation
3937	LCP2	HP:0040238	Impaired neutrophil chemotaxis
3937	LCP2	HP:0000988	Skin rash
3937	LCP2	HP:0000967	Petechiae
3937	LCP2	HP:0031402	Reduced antigen-specific T cell proliferation
3937	LCP2	HP:0025632	Reduced reactive oxygen species production in neutrophils
3937	LCP2	HP:0025615	Abscess
3937	LCP2	HP:0031545	Abnormally low T cell receptor excision circle level
3937	LCP2	HP:0001890	Autoimmune hemolytic anemia
3937	LCP2	HP:0030388	Decreased proportion of class-switched memory B cells
3938	LCT	HP:0025130	Decreased small intestinal mucosa lactase level
3938	LCT	HP:0000007	Autosomal recessive inheritance
3938	LCT	HP:0002014	Diarrhea
3938	LCT	HP:0004789	Lactose intolerance
3938	LCT	HP:0003623	Neonatal onset
3938	LCT	HP:0001944	Dehydration
3938	LCT	HP:0001942	Metabolic acidosis
3939	LDHA	HP:0003738	Exercise-induced myalgia
3939	LDHA	HP:0007432	Intermittent generalized erythematous papular rash
3939	LDHA	HP:0000083	Renal insufficiency
3939	LDHA	HP:0031190	Superficial dermal perivascular inflammatory infiltrate
3939	LDHA	HP:0000007	Autosomal recessive inheritance
3939	LDHA	HP:0025474	Erythematous plaque
3939	LDHA	HP:0031236	Predominantly dermal neutrophilic infiltrate
3939	LDHA	HP:0003326	Myalgia
3939	LDHA	HP:0003394	Muscle spasm
3939	LDHA	HP:0002063	Rigidity
3939	LDHA	HP:0002046	Heat intolerance
3939	LDHA	HP:0003388	Easy fatigability
3939	LDHA	HP:0002151	Increased serum lactate
3939	LDHA	HP:0003552	Muscle stiffness
3939	LDHA	HP:0003546	Exercise intolerance
3939	LDHA	HP:0003542	Increased serum pyruvate
3939	LDHA	HP:0008331	Elevated creatine kinase after exercise
3939	LDHA	HP:0008305	Exercise-induced myoglobinuria
3939	LDHA	HP:0001036	Parakeratosis
3939	LDHA	HP:0200039	Pustule
3939	LDHA	HP:0003621	Juvenile onset
3939	LDHA	HP:0012622	Chronic kidney disease
3939	LDHA	HP:0001919	Acute kidney injury
3939	LDHA	HP:0011356	Regional abnormality of skin
3939	LDHA	HP:0009045	Exercise-induced rhabdomyolysis
3939	LDHA	HP:0003072	Hypercalcemia
3939	LDHA	HP:0003236	Elevated circulating creatine kinase concentration
3939	LDHA	HP:0003201	Rhabdomyolysis
3939	LDHA	HP:0045040	Abnormal lactate dehydrogenase level
3939	LDHA	HP:0000989	Pruritus
3939	LDHA	HP:0040189	Scaling skin
3939	LDHA	HP:0025526	Psoriasiform lesion
3939	LDHA	HP:0025528	Annular cutaneous lesion
3939	LDHA	HP:0002913	Myoglobinuria
3939	LDHA	HP:0002910	Elevated hepatic transaminase
3939	LDHA	HP:0001787	Abnormal delivery
3945	LDHB	HP:0045041	Reduced lactate dehydrogenase B level
3949	LDLR	HP:0001138	Optic neuropathy
3949	LDLR	HP:0001114	Xanthelasma
3949	LDLR	HP:0010874	Tendon xanthomatosis
3949	LDLR	HP:0001397	Hepatic steatosis
3949	LDLR	HP:0000007	Autosomal recessive inheritance
3949	LDLR	HP:0000006	Autosomal dominant inheritance
3949	LDLR	HP:0002094	Dyspnea
3949	LDLR	HP:0007201	Cerebral artery atherosclerosis
3949	LDLR	HP:0001084	Corneal arcus
3949	LDLR	HP:0004963	Calcification of the aorta
3949	LDLR	HP:0004950	Peripheral arterial stenosis
3949	LDLR	HP:0001920	Renal artery stenosis
3949	LDLR	HP:0012638	Abnormal nervous system physiology
3949	LDLR	HP:0003077	Hyperlipidemia
3949	LDLR	HP:0004381	Supravalvular aortic stenosis
3949	LDLR	HP:0000799	Renal steatosis
3949	LDLR	HP:0003124	Hypercholesterolemia
3949	LDLR	HP:0004416	Precocious atherosclerosis
3949	LDLR	HP:0003141	Increased LDL cholesterol concentration
3949	LDLR	HP:0000822	Hypertension
3949	LDLR	HP:0030882	Coronary artery aneurysm
3949	LDLR	HP:0100261	Abnormal tendon morphology
3949	LDLR	HP:0000991	Xanthomatosis
3949	LDLR	HP:0002829	Arthralgia
3949	LDLR	HP:0012397	Aortic atherosclerotic lesion
3949	LDLR	HP:0012373	Abnormal eye physiology
3949	LDLR	HP:0005177	Premature arteriosclerosis
3949	LDLR	HP:0005181	Premature coronary artery atherosclerosis
3949	LDLR	HP:0005162	Abnormal left ventricular function
3949	LDLR	HP:0001681	Angina pectoris
3949	LDLR	HP:0001677	Coronary artery atherosclerosis
3949	LDLR	HP:0001645	Sudden cardiac death
3949	LDLR	HP:0030148	Heart murmur
3949	LDLR	HP:0001658	Myocardial infarction
3949	LDLR	HP:0001653	Mitral regurgitation
3949	LDLR	HP:0006693	Myocardial steatosis
3949	LDLR	HP:3000062	Abnormal internal carotid artery morphology
3952	LEP	HP:0002591	Polyphagia
3952	LEP	HP:0008734	Decreased testicular size
3952	LEP	HP:0008724	Hypoplasia of the ovary
3952	LEP	HP:0000054	Micropenis
3952	LEP	HP:0000007	Autosomal recessive inheritance
3952	LEP	HP:0000135	Hypogonadism
3952	LEP	HP:0410018	Recurrent ear infections
3952	LEP	HP:0002788	Recurrent upper respiratory tract infections
3952	LEP	HP:0008187	Absence of secondary sex characteristics
3952	LEP	HP:0002155	Hypertriglyceridemia
3952	LEP	HP:0008245	Pituitary hypothyroidism
3952	LEP	HP:0008214	Decreased serum estradiol
3952	LEP	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
3952	LEP	HP:0005616	Accelerated skeletal maturation
3952	LEP	HP:0000771	Gynecomastia
3952	LEP	HP:0011463	Childhood onset
3952	LEP	HP:0000786	Primary amenorrhea
3952	LEP	HP:0000831	Insulin-resistant diabetes mellitus
3952	LEP	HP:0000842	Hyperinsulinemia
3952	LEP	HP:0000815	Hypergonadotropic hypogonadism
3952	LEP	HP:0003292	Decreased serum leptin
3952	LEP	HP:0040171	Decreased serum testosterone concentration
3952	LEP	HP:0001513	Obesity
3952	LEP	HP:0006532	Recurrent pneumonia
3952	LEP	HP:0005407	Decreased proportion of CD4-positive helper T cells
3952	LEP	HP:0005419	Decreased T cell activation
3953	LEPR	HP:0001249	Intellectual disability
3953	LEPR	HP:0002591	Polyphagia
3953	LEPR	HP:0008734	Decreased testicular size
3953	LEPR	HP:0008724	Hypoplasia of the ovary
3953	LEPR	HP:0000007	Autosomal recessive inheritance
3953	LEPR	HP:0002788	Recurrent upper respiratory tract infections
3953	LEPR	HP:0008187	Absence of secondary sex characteristics
3953	LEPR	HP:0002155	Hypertriglyceridemia
3953	LEPR	HP:0008245	Pituitary hypothyroidism
3953	LEPR	HP:0008214	Decreased serum estradiol
3953	LEPR	HP:0003593	Infantile onset
3953	LEPR	HP:0100738	Abnormal eating behavior
3953	LEPR	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
3953	LEPR	HP:0004322	Short stature
3953	LEPR	HP:0005616	Accelerated skeletal maturation
3953	LEPR	HP:0000771	Gynecomastia
3953	LEPR	HP:0000718	Aggressive behavior
3953	LEPR	HP:0000712	Emotional lability
3953	LEPR	HP:0000786	Primary amenorrhea
3953	LEPR	HP:0000831	Insulin-resistant diabetes mellitus
3953	LEPR	HP:0000842	Hyperinsulinemia
3953	LEPR	HP:0000819	Diabetes mellitus
3953	LEPR	HP:0000815	Hypergonadotropic hypogonadism
3953	LEPR	HP:0000824	Decreased response to growth hormone stimulation test
3953	LEPR	HP:0000823	Delayed puberty
3953	LEPR	HP:0003292	Decreased serum leptin
3953	LEPR	HP:0040171	Decreased serum testosterone concentration
3953	LEPR	HP:0012286	Abnormal hypothalamus morphology
3953	LEPR	HP:0001513	Obesity
3953	LEPR	HP:0002958	Immune dysregulation
3953	LEPR	HP:0005407	Decreased proportion of CD4-positive helper T cells
3953	LEPR	HP:0005419	Decreased T cell activation
3954	LETM1	HP:0001177	Preaxial hand polydactyly
3954	LETM1	HP:0001171	Split hand
3954	LETM1	HP:0002487	Hyperkinetic movements
3954	LETM1	HP:0001166	Arachnodactyly
3954	LETM1	HP:0008619	Bilateral sensorineural hearing impairment
3954	LETM1	HP:0009918	Ectopia pupillae
3954	LETM1	HP:0009890	High anterior hairline
3954	LETM1	HP:0010864	Intellectual disability, severe
3954	LETM1	HP:0008551	Microtia
3954	LETM1	HP:0003745	Sporadic
3954	LETM1	HP:0001290	Generalized hypotonia
3954	LETM1	HP:0001272	Cerebellar atrophy
3954	LETM1	HP:0001274	Agenesis of corpus callosum
3954	LETM1	HP:0001250	Seizure
3954	LETM1	HP:0001252	Hypotonia
3954	LETM1	HP:0001251	Ataxia
3954	LETM1	HP:0001249	Intellectual disability
3954	LETM1	HP:0001263	Global developmental delay
3954	LETM1	HP:0001257	Spasticity
3954	LETM1	HP:0007385	Aplasia cutis congenita of scalp
3954	LETM1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
3954	LETM1	HP:0410309	Alpha-aminoadipic aciduria
3954	LETM1	HP:0002553	Highly arched eyebrow
3954	LETM1	HP:0002505	Loss of ambulation
3954	LETM1	HP:0000077	Abnormality of the kidney
3954	LETM1	HP:0000079	Abnormality of the urinary system
3954	LETM1	HP:0000078	Abnormality of the genital system
3954	LETM1	HP:0001385	Hip dysplasia
3954	LETM1	HP:0000047	Hypospadias
3954	LETM1	HP:0001348	Brisk reflexes
3954	LETM1	HP:0001362	Calvarial skull defect
3954	LETM1	HP:0000028	Cryptorchidism
3954	LETM1	HP:0008850	Severe postnatal growth retardation
3954	LETM1	HP:0008830	Hypoplastic pubic rami
3954	LETM1	HP:0001331	Absent septum pellucidum
3954	LETM1	HP:0000007	Autosomal recessive inheritance
3954	LETM1	HP:0000006	Autosomal dominant inheritance
3954	LETM1	HP:0001320	Cerebellar vermis hypoplasia
3954	LETM1	HP:0002650	Scoliosis
3954	LETM1	HP:0000188	Short upper lip
3954	LETM1	HP:0000159	Abnormal lip morphology
3954	LETM1	HP:0000175	Cleft palate
3954	LETM1	HP:0000153	Abnormality of the mouth
3954	LETM1	HP:0000151	Aplasia of the uterus
3954	LETM1	HP:0000119	Abnormality of the genitourinary system
3954	LETM1	HP:0002750	Delayed skeletal maturation
3954	LETM1	HP:0002715	Abnormality of the immune system
3954	LETM1	HP:0002714	Downturned corners of mouth
3954	LETM1	HP:0002721	Immunodeficiency
3954	LETM1	HP:0002020	Gastroesophageal reflux
3954	LETM1	HP:0003363	Abdominal situs inversus
3954	LETM1	HP:0002011	Morphological central nervous system abnormality
3954	LETM1	HP:0002007	Frontal bossing
3954	LETM1	HP:0003312	Abnormal form of the vertebral bodies
3954	LETM1	HP:0002066	Gait ataxia
3954	LETM1	HP:0002057	Prominent glabella
3954	LETM1	HP:0002144	Tethered cord
3954	LETM1	HP:0003468	Abnormal vertebral morphology
3954	LETM1	HP:0003487	Babinski sign
3954	LETM1	HP:0002151	Increased serum lactate
3954	LETM1	HP:0002119	Ventriculomegaly
3954	LETM1	HP:0004794	Malrotation of small bowel
3954	LETM1	HP:0002162	Low posterior hairline
3954	LETM1	HP:0011863	Abnormal sternal ossification
3954	LETM1	HP:0003593	Infantile onset
3954	LETM1	HP:0002205	Recurrent respiratory infections
3954	LETM1	HP:0003535	3-Methylglutaconic aciduria
3954	LETM1	HP:0100790	Hernia
3954	LETM1	HP:0002389	Cavum septum pellucidum
3954	LETM1	HP:0001028	Hemangioma
3954	LETM1	HP:0002376	Developmental regression
3954	LETM1	HP:0002353	EEG abnormality
3954	LETM1	HP:0009830	Peripheral neuropathy
3954	LETM1	HP:0001080	Biliary tract abnormality
3954	LETM1	HP:0007109	Periventricular cysts
3954	LETM1	HP:0009778	Short thumb
3954	LETM1	HP:0033407	Elevated urine acetoacetic acid level
3954	LETM1	HP:0000639	Nystagmus
3954	LETM1	HP:0000648	Optic atrophy
3954	LETM1	HP:0000647	Sclerocornea
3954	LETM1	HP:0000612	Iris coloboma
3954	LETM1	HP:0034008	Opto-chiasmatic atrophy
3954	LETM1	HP:0000668	Hypodontia
3954	LETM1	HP:0004322	Short stature
3954	LETM1	HP:0030680	Abnormality of cardiovascular system morphology
3954	LETM1	HP:0009193	Pseudoepiphyses of the metacarpals
3954	LETM1	HP:0100022	Abnormality of movement
3954	LETM1	HP:0000765	Abnormal thorax morphology
3954	LETM1	HP:0011463	Childhood onset
3954	LETM1	HP:0010109	Short hallux
3954	LETM1	HP:0000776	Congenital diaphragmatic hernia
3954	LETM1	HP:0003199	Decreased muscle mass
3954	LETM1	HP:0000925	Abnormality of the vertebral column
3954	LETM1	HP:0000902	Rib fusion
3954	LETM1	HP:0004484	Craniofacial asymmetry
3954	LETM1	HP:0004467	Preauricular pit
3954	LETM1	HP:0000826	Precocious puberty
3954	LETM1	HP:0003202	Skeletal muscle atrophy
3954	LETM1	HP:0000954	Single transverse palmar crease
3954	LETM1	HP:0000960	Sacral dimple
3954	LETM1	HP:0000939	Osteoporosis
3954	LETM1	HP:0000286	Epicanthus
3954	LETM1	HP:0000288	Abnormality of the philtrum
3954	LETM1	HP:0000276	Long face
3954	LETM1	HP:0000268	Dolichocephaly
3954	LETM1	HP:0002827	Hip dislocation
3954	LETM1	HP:0002808	Kyphosis
3954	LETM1	HP:0000238	Hydrocephalus
3954	LETM1	HP:0000252	Microcephaly
3954	LETM1	HP:0000218	High palate
3954	LETM1	HP:0001558	Decreased fetal movement
3954	LETM1	HP:0000202	Orofacial cleft
3954	LETM1	HP:0000204	Cleft upper lip
3954	LETM1	HP:0001508	Failure to thrive
3954	LETM1	HP:0001519	Disproportionate tall stature
3954	LETM1	HP:0001518	Small for gestational age
3954	LETM1	HP:0001511	Intrauterine growth retardation
3954	LETM1	HP:0001510	Growth delay
3954	LETM1	HP:0000384	Preauricular skin tag
3954	LETM1	HP:0000377	Abnormal pinna morphology
3954	LETM1	HP:0000389	Chronic otitis media
3954	LETM1	HP:0005264	Abnormality of the gallbladder
3954	LETM1	HP:0002948	Vertebral fusion
3954	LETM1	HP:0000365	Hearing impairment
3954	LETM1	HP:0001698	Pericardial effusion
3954	LETM1	HP:0000369	Low-set ears
3954	LETM1	HP:0000368	Low-set, posteriorly rotated ears
3954	LETM1	HP:0000341	Narrow forehead
3954	LETM1	HP:0001671	Abnormal cardiac septum morphology
3954	LETM1	HP:0000348	High forehead
3954	LETM1	HP:0000347	Micrognathia
3954	LETM1	HP:0000316	Hypertelorism
3954	LETM1	HP:0002974	Radioulnar synostosis
3954	LETM1	HP:0001654	Abnormal heart valve morphology
3954	LETM1	HP:0000322	Short philtrum
3954	LETM1	HP:0001629	Ventricular septal defect
3954	LETM1	HP:0001638	Cardiomyopathy
3954	LETM1	HP:0001631	Atrial septal defect
3954	LETM1	HP:0006655	Rib segmentation abnormalities
3954	LETM1	HP:0000407	Sensorineural hearing impairment
3954	LETM1	HP:0000405	Conductive hearing impairment
3954	LETM1	HP:0000402	Stenosis of the external auditory canal
3954	LETM1	HP:0000486	Strabismus
3954	LETM1	HP:0000485	Megalocornea
3954	LETM1	HP:0000494	Downslanted palpebral fissures
3954	LETM1	HP:0000488	Retinopathy
3954	LETM1	HP:0000465	Webbed neck
3954	LETM1	HP:0000444	Convex nasal ridge
3954	LETM1	HP:0001747	Accessory spleen
3954	LETM1	HP:0001760	Abnormal foot morphology
3954	LETM1	HP:0001762	Talipes equinovarus
3954	LETM1	HP:0000431	Wide nasal bridge
3954	LETM1	HP:0006703	Aplasia/Hypoplasia of the lungs
3954	LETM1	HP:0006709	Aplasia/Hypoplasia of the nipples
3954	LETM1	HP:0000518	Cataract
3954	LETM1	HP:0001841	Preaxial foot polydactyly
3954	LETM1	HP:0001840	Metatarsus adductus
3954	LETM1	HP:0000520	Proptosis
3954	LETM1	HP:0000508	Ptosis
3954	LETM1	HP:0000505	Visual impairment
3954	LETM1	HP:0001812	Hyperconvex fingernails
3954	LETM1	HP:0000558	Rieger anomaly
3955	LFNG	HP:0002435	Meningocele
3955	LFNG	HP:0001249	Intellectual disability
3955	LFNG	HP:0001238	Slender finger
3955	LFNG	HP:0006101	Finger syndactyly
3955	LFNG	HP:0010978	Abnormality of immune system physiology
3955	LFNG	HP:0000069	Abnormality of the ureter
3955	LFNG	HP:0000047	Hypospadias
3955	LFNG	HP:0000023	Inguinal hernia
3955	LFNG	HP:0000028	Cryptorchidism
3955	LFNG	HP:0000008	Abnormal morphology of female internal genitalia
3955	LFNG	HP:0000007	Autosomal recessive inheritance
3955	LFNG	HP:0002650	Scoliosis
3955	LFNG	HP:0000175	Cleft palate
3955	LFNG	HP:0003312	Abnormal form of the vertebral bodies
3955	LFNG	HP:0003311	Hypoplasia of the odontoid process
3955	LFNG	HP:0002093	Respiratory insufficiency
3955	LFNG	HP:0100589	Urogenital fistula
3955	LFNG	HP:0003422	Vertebral segmentation defect
3955	LFNG	HP:0100490	Camptodactyly of finger
3955	LFNG	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger
3955	LFNG	HP:0003577	Congenital onset
3955	LFNG	HP:0010772	Anomalous pulmonary venous return
3955	LFNG	HP:0004322	Short stature
3955	LFNG	HP:0030680	Abnormality of cardiovascular system morphology
3955	LFNG	HP:0000772	Abnormal rib morphology
3955	LFNG	HP:0000776	Congenital diaphragmatic hernia
3955	LFNG	HP:0000902	Rib fusion
3955	LFNG	HP:0003298	Spina bifida occulta
3955	LFNG	HP:0004598	Supernumerary vertebral ossification centers
3955	LFNG	HP:0010306	Short thorax
3955	LFNG	HP:0000256	Macrocephaly
3955	LFNG	HP:0000269	Prominent occiput
3955	LFNG	HP:0005108	Abnormal intervertebral disk morphology
3955	LFNG	HP:0002808	Kyphosis
3955	LFNG	HP:0000252	Microcephaly
3955	LFNG	HP:0001537	Umbilical hernia
3955	LFNG	HP:0001511	Intrauterine growth retardation
3955	LFNG	HP:0000368	Low-set, posteriorly rotated ears
3955	LFNG	HP:0000343	Long philtrum
3955	LFNG	HP:0000337	Broad forehead
3955	LFNG	HP:0006655	Rib segmentation abnormalities
3955	LFNG	HP:0005280	Depressed nasal bridge
3955	LFNG	HP:0000463	Anteverted nares
3955	LFNG	HP:0000470	Short neck
3972	LHB	HP:0008669	Abnormal spermatogenesis
3972	LHB	HP:0000044	Hypogonadotropic hypogonadism
3972	LHB	HP:0000054	Micropenis
3972	LHB	HP:0033810	Decreased circulating dihydrotestosterone concentration
3972	LHB	HP:0000026	Male hypogonadism
3972	LHB	HP:0000027	Azoospermia
3972	LHB	HP:0000007	Autosomal recessive inheritance
3972	LHB	HP:0000138	Ovarian cyst
3972	LHB	HP:0008232	Elevated circulating follicle stimulating hormone level
3972	LHB	HP:0008226	Androgen insufficiency
3972	LHB	HP:0002215	Sparse axillary hair
3972	LHB	HP:0002225	Sparse pubic hair
3972	LHB	HP:0010789	Abnormality of the Leydig cells
3972	LHB	HP:0000771	Gynecomastia
3972	LHB	HP:0004408	Abnormality of the sense of smell
3972	LHB	HP:0000876	Oligomenorrhea
3972	LHB	HP:0000869	Secondary amenorrhea
3972	LHB	HP:0000823	Delayed puberty
3972	LHB	HP:0040171	Decreased serum testosterone concentration
3972	LHB	HP:0012215	Testicular microlithiasis
3972	LHB	HP:0025708	Early young adult onset
3972	LHB	HP:0030344	Decreased circulating luteinizing hormone level
3973	LHCGR	HP:0008734	Decreased testicular size
3973	LHCGR	HP:0000098	Tall stature
3973	LHCGR	HP:0000040	Long penis
3973	LHCGR	HP:0000053	Macroorchidism
3973	LHCGR	HP:0000007	Autosomal recessive inheritance
3973	LHCGR	HP:0001470	Sex-limited expression
3973	LHCGR	HP:0008185	Precocious puberty in males
3973	LHCGR	HP:0007018	Attention deficit hyperactivity disorder
3973	LHCGR	HP:0001061	Acne
3973	LHCGR	HP:0005616	Accelerated skeletal maturation
3973	LHCGR	HP:0000708	Atypical behavior
3973	LHCGR	HP:0000798	Oligospermia
3973	LHCGR	HP:0000837	Increased circulating gonadotropin level
3973	LHCGR	HP:0000815	Hypergonadotropic hypogonadism
3973	LHCGR	HP:0000826	Precocious puberty
3973	LHCGR	HP:0003251	Male infertility
3973	LHCGR	HP:0001595	Abnormal hair morphology
3975	LHX1	HP:0002463	Language impairment
3975	LHX1	HP:0100801	Pancreatic aplasia
3975	LHX1	HP:0001250	Seizure
3975	LHX1	HP:0001249	Intellectual disability
3975	LHX1	HP:0001263	Global developmental delay
3975	LHX1	HP:0008678	Renal hypoplasia/aplasia
3975	LHX1	HP:0000083	Renal insufficiency
3975	LHX1	HP:0000070	Ureterocele
3975	LHX1	HP:0000049	Shawl scrotum
3975	LHX1	HP:0000028	Cryptorchidism
3975	LHX1	HP:0000003	Multicystic kidney dysplasia
3975	LHX1	HP:0012157	Subcortical cerebral atrophy
3975	LHX1	HP:0002059	Cerebral atrophy
3975	LHX1	HP:0011968	Feeding difficulties
3975	LHX1	HP:0004322	Short stature
3975	LHX1	HP:0000717	Autism
3975	LHX1	HP:0000819	Diabetes mellitus
3975	LHX1	HP:0000239	Large fontanelles
3975	LHX1	HP:0001562	Oligohydramnios
3975	LHX1	HP:0002910	Elevated hepatic transaminase
3975	LHX1	HP:0000365	Hearing impairment
3977	LIFR	HP:0001181	Adducted thumb
3977	LIFR	HP:0002486	Myotonia
3977	LIFR	HP:0001156	Brachydactyly
3977	LIFR	HP:0007328	Impaired pain sensation
3977	LIFR	HP:0001290	Generalized hypotonia
3977	LIFR	HP:0001250	Seizure
3977	LIFR	HP:0001252	Hypotonia
3977	LIFR	HP:0001249	Intellectual disability
3977	LIFR	HP:0100865	Broad ischia
3977	LIFR	HP:0001217	Clubbing
3977	LIFR	HP:0001376	Limitation of joint mobility
3977	LIFR	HP:0001371	Flexion contracture
3977	LIFR	HP:0008872	Feeding difficulties in infancy
3977	LIFR	HP:0008824	Hypoplastic iliac body
3977	LIFR	HP:0000007	Autosomal recessive inheritance
3977	LIFR	HP:0002652	Skeletal dysplasia
3977	LIFR	HP:0002650	Scoliosis
3977	LIFR	HP:0000164	Abnormality of the dentition
3977	LIFR	HP:0007610	Blotching pigmentation of the skin
3977	LIFR	HP:0002757	Recurrent fractures
3977	LIFR	HP:0002756	Pathologic fracture
3977	LIFR	HP:0002719	Recurrent infections
3977	LIFR	HP:0004684	Talipes valgus
3977	LIFR	HP:0002015	Dysphagia
3977	LIFR	HP:0002007	Frontal bossing
3977	LIFR	HP:0003300	Ovoid vertebral bodies
3977	LIFR	HP:0011800	Midface retrusion
3977	LIFR	HP:0002089	Pulmonary hypoplasia
3977	LIFR	HP:0002098	Respiratory distress
3977	LIFR	HP:0002099	Asthma
3977	LIFR	HP:0002092	Pulmonary arterial hypertension
3977	LIFR	HP:0002093	Respiratory insufficiency
3977	LIFR	HP:0009465	Ulnar deviation of finger
3977	LIFR	HP:0002104	Apnea
3977	LIFR	HP:0100490	Camptodactyly of finger
3977	LIFR	HP:0003401	Paresthesia
3977	LIFR	HP:0003577	Congenital onset
3977	LIFR	HP:0011968	Feeding difficulties
3977	LIFR	HP:0001056	Milia
3977	LIFR	HP:0004980	Metaphyseal rarefaction
3977	LIFR	HP:0100678	Premature skin wrinkling
3977	LIFR	HP:0009803	Short phalanx of finger
3977	LIFR	HP:0009765	Low hanging columella
3977	LIFR	HP:0004964	Pulmonary arterial medial hypertrophy
3977	LIFR	HP:0006844	Absent patellar reflexes
3977	LIFR	HP:0000633	Decreased lacrimation
3977	LIFR	HP:0000632	Lacrimation abnormality
3977	LIFR	HP:0001945	Fever
3977	LIFR	HP:0001954	Recurrent fever
3977	LIFR	HP:0000670	Carious teeth
3977	LIFR	HP:0004322	Short stature
3977	LIFR	HP:0003037	Enlarged joints
3977	LIFR	HP:0004370	Abnormality of temperature regulation
3977	LIFR	HP:0003015	Flared metaphysis
3977	LIFR	HP:0003016	Metaphyseal widening
3977	LIFR	HP:0003026	Short long bone
3977	LIFR	HP:0012745	Short palpebral fissure
3977	LIFR	HP:0100028	Ectopic thyroid
3977	LIFR	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
3977	LIFR	HP:0012785	Flexion contracture of finger
3977	LIFR	HP:0003103	Abnormal cortical bone morphology
3977	LIFR	HP:0005736	Short tibia
3977	LIFR	HP:0003196	Short nose
3977	LIFR	HP:0000883	Thin ribs
3977	LIFR	HP:0012810	Wide nasal base
3977	LIFR	HP:0034252	Absent corneal reflex
3977	LIFR	HP:0000821	Hypothyroidism
3977	LIFR	HP:0010298	Smooth tongue
3977	LIFR	HP:0005830	Flexion contracture of toe
3977	LIFR	HP:0008000	Decreased corneal reflex
3977	LIFR	HP:0000975	Hyperhidrosis
3977	LIFR	HP:0000954	Single transverse palmar crease
3977	LIFR	HP:0000966	Hypohidrosis
3977	LIFR	HP:0000960	Sacral dimple
3977	LIFR	HP:0000963	Thin skin
3977	LIFR	HP:0000939	Osteoporosis
3977	LIFR	HP:0000935	Thickened cortex of long bones
3977	LIFR	HP:0000938	Osteopenia
3977	LIFR	HP:0000944	Abnormal metaphysis morphology
3977	LIFR	HP:0008070	Sparse hair
3977	LIFR	HP:0000293	Full cheeks
3977	LIFR	HP:0000272	Malar flattening
3977	LIFR	HP:0007759	Opacification of the corneal stroma
3977	LIFR	HP:0005089	Abnormal metaphyseal trabeculation
3977	LIFR	HP:0006380	Knee flexion contracture
3977	LIFR	HP:0001562	Oligohydramnios
3977	LIFR	HP:0000233	Thin vermilion border
3977	LIFR	HP:0002857	Genu valgum
3977	LIFR	HP:0001522	Death in infancy
3977	LIFR	HP:0000211	Trismus
3977	LIFR	HP:0000205	Pursed lips
3977	LIFR	HP:0001511	Intrauterine growth retardation
3977	LIFR	HP:0012385	Camptodactyly
3977	LIFR	HP:0001609	Hoarse voice
3977	LIFR	HP:0006487	Bowing of the long bones
3977	LIFR	HP:0000369	Low-set ears
3977	LIFR	HP:0012332	Abnormal autonomic nervous system physiology
3977	LIFR	HP:0000347	Micrognathia
3977	LIFR	HP:0002982	Tibial bowing
3977	LIFR	HP:0002983	Micromelia
3977	LIFR	HP:0000321	Square face
3977	LIFR	HP:0002980	Femoral bowing
3977	LIFR	HP:0002987	Elbow flexion contracture
3977	LIFR	HP:0000478	Abnormality of the eye
3977	LIFR	HP:0000490	Deeply set eye
3977	LIFR	HP:0000463	Anteverted nares
3977	LIFR	HP:0000470	Short neck
3977	LIFR	HP:0001762	Talipes equinovarus
3977	LIFR	HP:0000504	Abnormality of vision
3977	LIFR	HP:0001883	Talipes
3978	LIG1	HP:0001270	Motor delay
3978	LIG1	HP:0001249	Intellectual disability
3978	LIG1	HP:0500270	Increased proportion of gamma-delta T cells
3978	LIG1	HP:0000007	Autosomal recessive inheritance
3978	LIG1	HP:0000003	Multicystic kidney dysplasia
3978	LIG1	HP:0002783	Recurrent lower respiratory tract infections
3978	LIG1	HP:0002719	Recurrent infections
3978	LIG1	HP:0002720	Decreased circulating IgA level
3978	LIG1	HP:0003593	Infantile onset
3978	LIG1	HP:0005518	Increased mean corpuscular volume
3978	LIG1	HP:0004315	Decreased circulating IgG level
3978	LIG1	HP:0011463	Childhood onset
3978	LIG1	HP:0000964	Eczema
3978	LIG1	HP:0002850	Decreased circulating total IgM
3978	LIG1	HP:0001510	Growth delay
3978	LIG1	HP:0000403	Recurrent otitis media
3978	LIG1	HP:0030253	Defective T cell proliferation
3978	LIG1	HP:0000524	Conjunctival telangiectasia
3980	LIG3	HP:0001155	Abnormality of the hand
3980	LIG3	HP:0002460	Distal muscle weakness
3980	LIG3	HP:0025149	Atrophic muscularis propria
3980	LIG3	HP:0007256	Abnormal pyramidal sign
3980	LIG3	HP:0002401	Stroke-like episode
3980	LIG3	HP:0001272	Cerebellar atrophy
3980	LIG3	HP:0001268	Mental deterioration
3980	LIG3	HP:0002579	Gastrointestinal dysmotility
3980	LIG3	HP:0001249	Intellectual disability
3980	LIG3	HP:0002500	Abnormal cerebral white matter morphology
3980	LIG3	HP:0001394	Cirrhosis
3980	LIG3	HP:0000044	Hypogonadotropic hypogonadism
3980	LIG3	HP:0033725	Thin corpus callosum
3980	LIG3	HP:0000011	Neurogenic bladder
3980	LIG3	HP:0000007	Autosomal recessive inheritance
3980	LIG3	HP:0001336	Myoclonus
3980	LIG3	HP:0001310	Dysmetria
3980	LIG3	HP:0025461	Abnormal cell morphology
3980	LIG3	HP:0012103	Abnormality of the mitochondrion
3980	LIG3	HP:0001403	Macrovesicular hepatic steatosis
3980	LIG3	HP:0002719	Recurrent infections
3980	LIG3	HP:0002020	Gastroesophageal reflux
3980	LIG3	HP:0002018	Nausea
3980	LIG3	HP:0003348	Hyperalaninemia
3980	LIG3	HP:0002027	Abdominal pain
3980	LIG3	HP:0002014	Diarrhea
3980	LIG3	HP:0002015	Dysphagia
3980	LIG3	HP:0002013	Vomiting
3980	LIG3	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
3980	LIG3	HP:0003388	Easy fatigability
3980	LIG3	HP:0003477	Peripheral axonal neuropathy
3980	LIG3	HP:0003448	Decreased sensory nerve conduction velocity
3980	LIG3	HP:0003431	Decreased motor nerve conduction velocity
3980	LIG3	HP:0003401	Paresthesia
3980	LIG3	HP:0003689	Multiple mitochondrial DNA deletions
3980	LIG3	HP:0002352	Leukoencephalopathy
3980	LIG3	HP:0002315	Headache
3980	LIG3	HP:0009830	Peripheral neuropathy
3980	LIG3	HP:0007141	Sensorimotor neuropathy
3980	LIG3	HP:0007108	Demyelinating peripheral neuropathy
3980	LIG3	HP:0003621	Juvenile onset
3980	LIG3	HP:0000608	Macular degeneration
3980	LIG3	HP:0001903	Anemia
3980	LIG3	HP:0009027	Foot dorsiflexor weakness
3980	LIG3	HP:0006994	Diffuse leukoencephalopathy
3980	LIG3	HP:0004326	Cachexia
3980	LIG3	HP:0004305	Involuntary movements
3980	LIG3	HP:0004389	Intestinal pseudo-obstruction
3980	LIG3	HP:0004396	Poor appetite
3980	LIG3	HP:0000726	Dementia
3980	LIG3	HP:0011463	Childhood onset
3980	LIG3	HP:0003199	Decreased muscle mass
3980	LIG3	HP:0003128	Lactic acidosis
3980	LIG3	HP:0012850	Small intestinal dysmotility
3980	LIG3	HP:0000815	Hypergonadotropic hypogonadism
3980	LIG3	HP:0003200	Ragged-red muscle fibers
3980	LIG3	HP:0003270	Abdominal distention
3980	LIG3	HP:0008049	Abnormality of the extraocular muscles
3980	LIG3	HP:0002910	Elevated hepatic transaminase
3980	LIG3	HP:0002922	Increased CSF protein concentration
3980	LIG3	HP:0011024	Abnormality of the gastrointestinal tract
3980	LIG3	HP:0000407	Sensorineural hearing impairment
3980	LIG3	HP:0025708	Early young adult onset
3980	LIG3	HP:0000518	Cataract
3980	LIG3	HP:0001824	Weight loss
3980	LIG3	HP:0000508	Ptosis
3980	LIG3	HP:0000597	Ophthalmoparesis
3980	LIG3	HP:0000544	External ophthalmoplegia
3981	LIG4	HP:0002488	Acute leukemia
3981	LIG4	HP:0001156	Brachydactyly
3981	LIG4	HP:0003765	Psoriasiform dermatitis
3981	LIG4	HP:0009891	Underdeveloped supraorbital ridges
3981	LIG4	HP:0100806	Sepsis
3981	LIG4	HP:0001250	Seizure
3981	LIG4	HP:0001249	Intellectual disability
3981	LIG4	HP:0001263	Global developmental delay
3981	LIG4	HP:0001231	Abnormal fingernail morphology
3981	LIG4	HP:0100840	Aplasia/Hypoplasia of the eyebrow
3981	LIG4	HP:0008736	Hypoplasia of penis
3981	LIG4	HP:0031047	Paraproteinemia
3981	LIG4	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
3981	LIG4	HP:0000055	Abnormality of female external genitalia
3981	LIG4	HP:0000054	Micropenis
3981	LIG4	HP:0000047	Hypospadias
3981	LIG4	HP:0001363	Craniosynostosis
3981	LIG4	HP:0000028	Cryptorchidism
3981	LIG4	HP:0008897	Postnatal growth retardation
3981	LIG4	HP:0007549	Desquamation of skin soon after birth
3981	LIG4	HP:0002664	Neoplasm
3981	LIG4	HP:0000007	Autosomal recessive inheritance
3981	LIG4	HP:0002665	Lymphoma
3981	LIG4	HP:0002650	Scoliosis
3981	LIG4	HP:0000164	Abnormality of the dentition
3981	LIG4	HP:0000176	Submucous cleft hard palate
3981	LIG4	HP:0000141	Amenorrhea
3981	LIG4	HP:0000154	Wide mouth
3981	LIG4	HP:0000126	Hydronephrosis
3981	LIG4	HP:0000100	Nephrotic syndrome
3981	LIG4	HP:0001428	Somatic mutation
3981	LIG4	HP:0002750	Delayed skeletal maturation
3981	LIG4	HP:0002719	Recurrent infections
3981	LIG4	HP:0002716	Lymphadenopathy
3981	LIG4	HP:0002721	Immunodeficiency
3981	LIG4	HP:0002025	Anal stenosis
3981	LIG4	HP:0002024	Malabsorption
3981	LIG4	HP:0002035	Rectal prolapse
3981	LIG4	HP:0002028	Chronic diarrhea
3981	LIG4	HP:0005978	Type II diabetes mellitus
3981	LIG4	HP:0002099	Asthma
3981	LIG4	HP:0002093	Respiratory insufficiency
3981	LIG4	HP:0002090	Pneumonia
3981	LIG4	HP:0100585	Telangiectasia of the skin
3981	LIG4	HP:0009601	Aplasia/Hypoplasia of the thumb
3981	LIG4	HP:0009602	Abnormality of thumb phalanx
3981	LIG4	HP:0002240	Hepatomegaly
3981	LIG4	HP:0003581	Adult onset
3981	LIG4	HP:0002213	Fine hair
3981	LIG4	HP:0002209	Sparse scalp hair
3981	LIG4	HP:0009738	Abnormal antihelix morphology
3981	LIG4	HP:0007018	Attention deficit hyperactivity disorder
3981	LIG4	HP:0001009	Telangiectasia
3981	LIG4	HP:0001019	Erythroderma
3981	LIG4	HP:0001000	Abnormality of skin pigmentation
3981	LIG4	HP:0100646	Thyroiditis
3981	LIG4	HP:0001072	Thickened skin
3981	LIG4	HP:0200055	Small hand
3981	LIG4	HP:0010783	Erythema
3981	LIG4	HP:0004209	Clinodactyly of the 5th finger
3981	LIG4	HP:0005561	Abnormality of bone marrow cell morphology
3981	LIG4	HP:0000639	Nystagmus
3981	LIG4	HP:0001974	Leukocytosis
3981	LIG4	HP:0001945	Fever
3981	LIG4	HP:0000601	Hypotelorism
3981	LIG4	HP:0001903	Anemia
3981	LIG4	HP:0000684	Delayed eruption of teeth
3981	LIG4	HP:0011304	Broad thumb
3981	LIG4	HP:0004322	Short stature
3981	LIG4	HP:0004332	Abnormal lymphocyte morphology
3981	LIG4	HP:0030680	Abnormality of cardiovascular system morphology
3981	LIG4	HP:0005692	Joint hyperflexibility
3981	LIG4	HP:0000767	Pectus excavatum
3981	LIG4	HP:0000750	Delayed speech and language development
3981	LIG4	HP:0004422	Biparietal narrowing
3981	LIG4	HP:0004430	Severe combined immunodeficiency
3981	LIG4	HP:0000924	Abnormality of the skeletal system
3981	LIG4	HP:0000829	Hypoparathyroidism
3981	LIG4	HP:0000821	Hypothyroidism
3981	LIG4	HP:0003220	Abnormality of chromosome stability
3981	LIG4	HP:0003298	Spina bifida occulta
3981	LIG4	HP:0000992	Cutaneous photosensitivity
3981	LIG4	HP:0000989	Pruritus
3981	LIG4	HP:0000958	Dry skin
3981	LIG4	HP:0000969	Edema
3981	LIG4	HP:0000965	Cutis marmorata
3981	LIG4	HP:0000964	Eczema
3981	LIG4	HP:0000960	Sacral dimple
3981	LIG4	HP:0000944	Abnormal metaphysis morphology
3981	LIG4	HP:0000286	Epicanthus
3981	LIG4	HP:0000294	Low anterior hairline
3981	LIG4	HP:0001596	Alopecia
3981	LIG4	HP:0000260	Wide anterior fontanel
3981	LIG4	HP:0000275	Narrow face
3981	LIG4	HP:0000270	Delayed cranial suture closure
3981	LIG4	HP:0000238	Hydrocephalus
3981	LIG4	HP:0000252	Microcephaly
3981	LIG4	HP:0000248	Brachycephaly
3981	LIG4	HP:0000218	High palate
3981	LIG4	HP:0000233	Thin vermilion border
3981	LIG4	HP:0002863	Myelodysplasia
3981	LIG4	HP:0001508	Failure to thrive
3981	LIG4	HP:0001511	Intrauterine growth retardation
3981	LIG4	HP:0001510	Growth delay
3981	LIG4	HP:0011034	Amyloidosis
3981	LIG4	HP:0000365	Hearing impairment
3981	LIG4	HP:0000368	Low-set, posteriorly rotated ears
3981	LIG4	HP:0000341	Narrow forehead
3981	LIG4	HP:0000340	Sloping forehead
3981	LIG4	HP:0000347	Micrognathia
3981	LIG4	HP:0000320	Bird-like facies
3981	LIG4	HP:0000316	Hypertelorism
3981	LIG4	HP:0002960	Autoimmunity
3981	LIG4	HP:0005338	Sparse lateral eyebrow
3981	LIG4	HP:0005280	Depressed nasal bridge
3981	LIG4	HP:0000486	Strabismus
3981	LIG4	HP:0001770	Toe syndactyly
3981	LIG4	HP:0001773	Short foot
3981	LIG4	HP:0000448	Prominent nose
3981	LIG4	HP:0000444	Convex nasal ridge
3981	LIG4	HP:0000411	Protruding ear
3981	LIG4	HP:0001744	Splenomegaly
3981	LIG4	HP:0000431	Wide nasal bridge
3981	LIG4	HP:0006721	Acute lymphoblastic leukemia
3981	LIG4	HP:0006775	Multiple myeloma
3981	LIG4	HP:0000518	Cataract
3981	LIG4	HP:0001840	Metatarsus adductus
3981	LIG4	HP:0001852	Sandal gap
3981	LIG4	HP:0000506	Telecanthus
3981	LIG4	HP:0000508	Ptosis
3981	LIG4	HP:0001831	Short toe
3981	LIG4	HP:0001800	Hypoplastic toenails
3981	LIG4	HP:0000582	Upslanted palpebral fissure
3981	LIG4	HP:0000581	Blepharophimosis
3981	LIG4	HP:0001880	Eosinophilia
3981	LIG4	HP:0001874	Abnormality of neutrophils
3981	LIG4	HP:0001873	Thrombocytopenia
3981	LIG4	HP:0001876	Pancytopenia
3981	LIG4	HP:0000545	Myopia
3982	LIM2	HP:0000007	Autosomal recessive inheritance
3982	LIM2	HP:0000639	Nystagmus
3982	LIM2	HP:0000646	Amblyopia
3982	LIM2	HP:0007780	Cortical pulverulent cataract
3984	LIMK1	HP:0001181	Adducted thumb
3984	LIMK1	HP:0001136	Retinal arteriolar tortuosity
3984	LIMK1	HP:0010880	Increased nuchal translucency
3984	LIMK1	HP:0001297	Stroke
3984	LIMK1	HP:0100817	Renovascular hypertension
3984	LIMK1	HP:0001288	Gait disturbance
3984	LIMK1	HP:0001252	Hypotonia
3984	LIMK1	HP:0001251	Ataxia
3984	LIMK1	HP:0001249	Intellectual disability
3984	LIMK1	HP:0001260	Dysarthria
3984	LIMK1	HP:0001257	Spasticity
3984	LIMK1	HP:0001231	Abnormal fingernail morphology
3984	LIMK1	HP:0002575	Tracheoesophageal fistula
3984	LIMK1	HP:0008736	Hypoplasia of penis
3984	LIMK1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
3984	LIMK1	HP:0008661	Urethral stenosis
3984	LIMK1	HP:0000089	Renal hypoplasia
3984	LIMK1	HP:0000083	Renal insufficiency
3984	LIMK1	HP:0000093	Proteinuria
3984	LIMK1	HP:0000076	Vesicoureteral reflux
3984	LIMK1	HP:0000075	Renal duplication
3984	LIMK1	HP:0000044	Hypogonadotropic hypogonadism
3984	LIMK1	HP:0001388	Joint laxity
3984	LIMK1	HP:0001387	Joint stiffness
3984	LIMK1	HP:0000023	Inguinal hernia
3984	LIMK1	HP:0000015	Bladder diverticulum
3984	LIMK1	HP:0000014	Abnormality of the bladder
3984	LIMK1	HP:0001347	Hyperreflexia
3984	LIMK1	HP:0001361	Nystagmus-induced head nodding
3984	LIMK1	HP:0000025	Functional abnormality of male internal genitalia
3984	LIMK1	HP:0000028	Cryptorchidism
3984	LIMK1	HP:0007495	Prematurely aged appearance
3984	LIMK1	HP:0007477	Abnormal dermatoglyphics
3984	LIMK1	HP:0000010	Recurrent urinary tract infections
3984	LIMK1	HP:0001337	Tremor
3984	LIMK1	HP:0001310	Dysmetria
3984	LIMK1	HP:0002637	Cerebral ischemia
3984	LIMK1	HP:0002650	Scoliosis
3984	LIMK1	HP:0002644	Abnormal pelvic girdle bone morphology
3984	LIMK1	HP:0002623	Overriding aorta
3984	LIMK1	HP:0000179	Thick lower lip vermilion
3984	LIMK1	HP:0000158	Macroglossia
3984	LIMK1	HP:0000154	Wide mouth
3984	LIMK1	HP:0000147	Polycystic ovaries
3984	LIMK1	HP:0000121	Nephrocalcinosis
3984	LIMK1	HP:0000125	Pelvic kidney
3984	LIMK1	HP:0002750	Delayed skeletal maturation
3984	LIMK1	HP:0002024	Malabsorption
3984	LIMK1	HP:0002020	Gastroesophageal reflux
3984	LIMK1	HP:0002019	Constipation
3984	LIMK1	HP:0002017	Nausea and vomiting
3984	LIMK1	HP:0002035	Rectal prolapse
3984	LIMK1	HP:0002027	Abdominal pain
3984	LIMK1	HP:0003312	Abnormal form of the vertebral bodies
3984	LIMK1	HP:0003307	Hyperlordosis
3984	LIMK1	HP:0005978	Type II diabetes mellitus
3984	LIMK1	HP:0100539	Periorbital edema
3984	LIMK1	HP:0100545	Arterial stenosis
3984	LIMK1	HP:0002071	Abnormality of extrapyramidal motor function
3984	LIMK1	HP:0002141	Gait imbalance
3984	LIMK1	HP:0002150	Hypercalciuria
3984	LIMK1	HP:0002120	Cerebral cortical atrophy
3984	LIMK1	HP:0003422	Vertebral segmentation defect
3984	LIMK1	HP:0002183	Phonophobia
3984	LIMK1	HP:0002167	Abnormality of speech or vocalization
3984	LIMK1	HP:0010526	Dysgraphia
3984	LIMK1	HP:0002253	Colonic diverticula
3984	LIMK1	HP:0002205	Recurrent respiratory infections
3984	LIMK1	HP:0100785	Insomnia
3984	LIMK1	HP:0010662	Abnormality of the diencephalon
3984	LIMK1	HP:0010669	Hypoplasia of the zygomatic bone
3984	LIMK1	HP:0007018	Attention deficit hyperactivity disorder
3984	LIMK1	HP:0001052	Nevus flammeus
3984	LIMK1	HP:0002376	Developmental regression
3984	LIMK1	HP:0200021	Down-sloping shoulders
3984	LIMK1	HP:0100659	Abnormal cerebral vascular morphology
3984	LIMK1	HP:0010807	Open bite
3984	LIMK1	HP:0100613	Death in early adulthood
3984	LIMK1	HP:0001081	Cholelithiasis
3984	LIMK1	HP:0008499	High hypermetropia
3984	LIMK1	HP:0010780	Hyperacusis
3984	LIMK1	HP:0002308	Chiari malformation
3984	LIMK1	HP:0004969	Peripheral pulmonary artery stenosis
3984	LIMK1	HP:0004209	Clinodactyly of the 5th finger
3984	LIMK1	HP:0004295	Abnormal gastric mucosa morphology
3984	LIMK1	HP:0005562	Multiple renal cysts
3984	LIMK1	HP:0001969	Abnormal tubulointerstitial morphology
3984	LIMK1	HP:0000635	Blue irides
3984	LIMK1	HP:0000632	Lacrimation abnormality
3984	LIMK1	HP:0000627	Posterior embryotoxon
3984	LIMK1	HP:0000682	Abnormal dental enamel morphology
3984	LIMK1	HP:0000691	Microdontia
3984	LIMK1	HP:0000689	Dental malocclusion
3984	LIMK1	HP:0000670	Carious teeth
3984	LIMK1	HP:0012639	Abnormal nervous system morphology
3984	LIMK1	HP:0000668	Hypodontia
3984	LIMK1	HP:0004322	Short stature
3984	LIMK1	HP:0004306	Abnormal endocardium morphology
3984	LIMK1	HP:0004305	Involuntary movements
3984	LIMK1	HP:0003072	Hypercalcemia
3984	LIMK1	HP:0004381	Supravalvular aortic stenosis
3984	LIMK1	HP:0004398	Peptic ulcer
3984	LIMK1	HP:0005692	Joint hyperflexibility
3984	LIMK1	HP:0003028	Abnormality of the ankle
3984	LIMK1	HP:0100025	Overfriendliness
3984	LIMK1	HP:0000767	Pectus excavatum
3984	LIMK1	HP:0000739	Anxiety
3984	LIMK1	HP:0000716	Depression
3984	LIMK1	HP:0000717	Autism
3984	LIMK1	HP:0000722	Compulsive behaviors
3984	LIMK1	HP:0000787	Nephrolithiasis
3984	LIMK1	HP:0003119	Abnormal circulating lipid concentration
3984	LIMK1	HP:0004428	Elfin facies
3984	LIMK1	HP:0003198	Myopathy
3984	LIMK1	HP:0003196	Short nose
3984	LIMK1	HP:0000826	Precocious puberty
3984	LIMK1	HP:0000822	Hypertension
3984	LIMK1	HP:0000821	Hypothyroidism
3984	LIMK1	HP:0003236	Elevated circulating creatine kinase concentration
3984	LIMK1	HP:0003298	Spina bifida occulta
3984	LIMK1	HP:0000960	Sacral dimple
3984	LIMK1	HP:0000939	Osteoporosis
3984	LIMK1	HP:0000938	Osteopenia
3984	LIMK1	HP:0100240	Synostosis of joints
3984	LIMK1	HP:0008053	Aplasia/Hypoplasia of the iris
3984	LIMK1	HP:0007720	Flat cornea
3984	LIMK1	HP:0000286	Epicanthus
3984	LIMK1	HP:0000280	Coarse facial features
3984	LIMK1	HP:0000275	Narrow face
3984	LIMK1	HP:0005113	Aortic arch aneurysm
3984	LIMK1	HP:0002829	Arthralgia
3984	LIMK1	HP:0002808	Kyphosis
3984	LIMK1	HP:0000252	Microcephaly
3984	LIMK1	HP:0001582	Redundant skin
3984	LIMK1	HP:0000212	Gingival overgrowth
3984	LIMK1	HP:0000232	Everted lower lip vermilion
3984	LIMK1	HP:0001531	Failure to thrive in infancy
3984	LIMK1	HP:0002857	Genu valgum
3984	LIMK1	HP:0001537	Umbilical hernia
3984	LIMK1	HP:0001513	Obesity
3984	LIMK1	HP:0000389	Chronic otitis media
3984	LIMK1	HP:0001609	Hoarse voice
3984	LIMK1	HP:0001608	Abnormality of the voice
3984	LIMK1	HP:0001618	Dysphonia
3984	LIMK1	HP:0006482	Abnormality of dental morphology
3984	LIMK1	HP:0000368	Low-set, posteriorly rotated ears
3984	LIMK1	HP:0001671	Abnormal cardiac septum morphology
3984	LIMK1	HP:0000343	Long philtrum
3984	LIMK1	HP:0011001	Increased bone mineral density
3984	LIMK1	HP:0000337	Broad forehead
3984	LIMK1	HP:0002999	Patellar dislocation
3984	LIMK1	HP:0000348	High forehead
3984	LIMK1	HP:0000347	Micrognathia
3984	LIMK1	HP:0001647	Bicuspid aortic valve
3984	LIMK1	HP:0001643	Patent ductus arteriosus
3984	LIMK1	HP:0001642	Pulmonic stenosis
3984	LIMK1	HP:0001645	Sudden cardiac death
3984	LIMK1	HP:0002974	Radioulnar synostosis
3984	LIMK1	HP:0001658	Myocardial infarction
3984	LIMK1	HP:0001653	Mitral regurgitation
3984	LIMK1	HP:0001629	Ventricular septal defect
3984	LIMK1	HP:0001626	Abnormality of the cardiovascular system
3984	LIMK1	HP:0001640	Cardiomegaly
3984	LIMK1	HP:0001639	Hypertrophic cardiomyopathy
3984	LIMK1	HP:0001636	Tetralogy of Fallot
3984	LIMK1	HP:0001635	Congestive heart failure
3984	LIMK1	HP:0000307	Pointed chin
3984	LIMK1	HP:0001631	Atrial septal defect
3984	LIMK1	HP:0001634	Mitral valve prolapse
3984	LIMK1	HP:0007957	Corneal opacity
3984	LIMK1	HP:0005344	Abnormal carotid artery morphology
3984	LIMK1	HP:0000407	Sensorineural hearing impairment
3984	LIMK1	HP:0000400	Macrotia
3984	LIMK1	HP:0000486	Strabismus
3984	LIMK1	HP:0000485	Megalocornea
3984	LIMK1	HP:0000464	Abnormality of the neck
3984	LIMK1	HP:0012433	Abnormal social behavior
3984	LIMK1	HP:0001763	Pes planus
3984	LIMK1	HP:0000411	Protruding ear
3984	LIMK1	HP:0000431	Wide nasal bridge
3984	LIMK1	HP:0000518	Cataract
3984	LIMK1	HP:0001822	Hallux valgus
3984	LIMK1	HP:0000505	Visual impairment
3984	LIMK1	HP:0000501	Glaucoma
3984	LIMK1	HP:0001800	Hypoplastic toenails
3984	LIMK1	HP:0000581	Blepharophimosis
3984	LIMK1	HP:0000545	Myopia
3988	LIPA	HP:0001263	Global developmental delay
3988	LIPA	HP:0002570	Steatorrhea
3988	LIPA	HP:0001397	Hepatic steatosis
3988	LIPA	HP:0001399	Hepatic failure
3988	LIPA	HP:0001395	Hepatic fibrosis
3988	LIPA	HP:0001394	Cirrhosis
3988	LIPA	HP:0000007	Autosomal recessive inheritance
3988	LIPA	HP:0002634	Arteriosclerosis
3988	LIPA	HP:0031141	Increased hepatic echogenicity
3988	LIPA	HP:0025435	Increased circulating lactate dehydrogenase concentration
3988	LIPA	HP:0031205	Reduced lysosomal acid lipase activity
3988	LIPA	HP:0001433	Hepatosplenomegaly
3988	LIPA	HP:0001409	Portal hypertension
3988	LIPA	HP:0001405	Periportal fibrosis
3988	LIPA	HP:0002017	Nausea and vomiting
3988	LIPA	HP:0002014	Diarrhea
3988	LIPA	HP:0002013	Vomiting
3988	LIPA	HP:0030948	Elevated gamma-glutamyltransferase level
3988	LIPA	HP:0002040	Esophageal varix
3988	LIPA	HP:0002155	Hypertriglyceridemia
3988	LIPA	HP:0010512	Adrenal calcification
3988	LIPA	HP:0003593	Infantile onset
3988	LIPA	HP:0002240	Hepatomegaly
3988	LIPA	HP:0003621	Juvenile onset
3988	LIPA	HP:0005521	Disseminated intravascular coagulation
3988	LIPA	HP:0034029	Hepatic foam cells
3988	LIPA	HP:0001971	Hypersplenism
3988	LIPA	HP:0001945	Fever
3988	LIPA	HP:0001903	Anemia
3988	LIPA	HP:0031956	Elevated circulating aspartate aminotransferase concentration
3988	LIPA	HP:0004333	Bone-marrow foam cells
3988	LIPA	HP:0004326	Cachexia
3988	LIPA	HP:0031964	Elevated circulating alanine aminotransferase concentration
3988	LIPA	HP:0004395	Malnutrition
3988	LIPA	HP:0003124	Hypercholesterolemia
3988	LIPA	HP:0003141	Increased LDL cholesterol concentration
3988	LIPA	HP:0012852	Hepatic bridging fibrosis
3988	LIPA	HP:0000846	Adrenal insufficiency
3988	LIPA	HP:0003233	Decreased HDL cholesterol concentration
3988	LIPA	HP:0003270	Abdominal distention
3988	LIPA	HP:0003282	Low alkaline phosphatase
3988	LIPA	HP:0000989	Pruritus
3988	LIPA	HP:0000952	Jaundice
3988	LIPA	HP:0001522	Death in infancy
3988	LIPA	HP:0001541	Ascites
3988	LIPA	HP:0001538	Protuberant abdomen
3988	LIPA	HP:0001508	Failure to thrive
3988	LIPA	HP:0001510	Growth delay
3988	LIPA	HP:0006554	Acute hepatic failure
3988	LIPA	HP:0001744	Splenomegaly
3988	LIPA	HP:0001882	Leukopenia
3988	LIPA	HP:0001873	Thrombocytopenia
3990	LIPC	HP:0000007	Autosomal recessive inheritance
3990	LIPC	HP:0000006	Autosomal dominant inheritance
3990	LIPC	HP:0012184	Increased HDL cholesterol concentration
3990	LIPC	HP:0005978	Type II diabetes mellitus
3990	LIPC	HP:0002155	Hypertriglyceridemia
3990	LIPC	HP:0003584	Late onset
3990	LIPC	HP:0001013	Eruptive xanthomas
3990	LIPC	HP:0001084	Corneal arcus
3990	LIPC	HP:0031819	Increased waist to hip ratio
3990	LIPC	HP:0003124	Hypercholesterolemia
3990	LIPC	HP:0000855	Insulin resistance
3990	LIPC	HP:0005181	Premature coronary artery atherosclerosis
3990	LIPC	HP:0001681	Angina pectoris
3991	LIPE	HP:0003701	Proximal muscle weakness
3991	LIPE	HP:0003712	Skeletal muscle hypertrophy
3991	LIPE	HP:0007340	Lower limb muscle weakness
3991	LIPE	HP:0001397	Hepatic steatosis
3991	LIPE	HP:0001324	Muscle weakness
3991	LIPE	HP:0000007	Autosomal recessive inheritance
3991	LIPE	HP:0000147	Polycystic ovaries
3991	LIPE	HP:0008994	Proximal muscle weakness in lower limbs
3991	LIPE	HP:0008993	Increased intraabdominal fat
3991	LIPE	HP:0008997	Proximal muscle weakness in upper limbs
3991	LIPE	HP:0002155	Hypertriglyceridemia
3991	LIPE	HP:0002240	Hepatomegaly
3991	LIPE	HP:0003551	Difficulty climbing stairs
3991	LIPE	HP:0003560	Muscular dystrophy
3991	LIPE	HP:0001010	Hypopigmentation of the skin
3991	LIPE	HP:0003635	Loss of subcutaneous adipose tissue in limbs
3991	LIPE	HP:0009017	Loss of gluteal subcutaneous adipose tissue
3991	LIPE	HP:0030685	Decreased adiponectin level
3991	LIPE	HP:0003077	Hyperlipidemia
3991	LIPE	HP:0012743	Abdominal obesity
3991	LIPE	HP:0011462	Young adult onset
3991	LIPE	HP:0009125	Lipodystrophy
3991	LIPE	HP:0003119	Abnormal circulating lipid concentration
3991	LIPE	HP:0003198	Myopathy
3991	LIPE	HP:0000876	Oligomenorrhea
3991	LIPE	HP:0000855	Insulin resistance
3991	LIPE	HP:0000831	Insulin-resistant diabetes mellitus
3991	LIPE	HP:0000819	Diabetes mellitus
3991	LIPE	HP:0000822	Hypertension
3991	LIPE	HP:0012881	Abnormal labia majora morphology
3991	LIPE	HP:0003236	Elevated circulating creatine kinase concentration
3991	LIPE	HP:0003202	Skeletal muscle atrophy
3991	LIPE	HP:0003292	Decreased serum leptin
3991	LIPE	HP:0000956	Acanthosis nigricans
3991	LIPE	HP:0002938	Lumbar hyperlordosis
3991	LIPE	HP:0000468	Increased adipose tissue around the neck
3991	LIPE	HP:0001761	Pes cavus
3998	LMAN1	HP:0000007	Autosomal recessive inheritance
3998	LMAN1	HP:0006298	Prolonged bleeding after dental extraction
3998	LMAN1	HP:0000132	Menorrhagia
3998	LMAN1	HP:0008151	Prolonged prothrombin time
3998	LMAN1	HP:0002149	Hyperuricemia
3998	LMAN1	HP:0002170	Intracranial hemorrhage
3998	LMAN1	HP:0011889	Bleeding with minor or no trauma
3998	LMAN1	HP:0002239	Gastrointestinal hemorrhage
3998	LMAN1	HP:0004846	Prolonged bleeding after surgery
3998	LMAN1	HP:0003645	Prolonged partial thromboplastin time
3998	LMAN1	HP:0003077	Hyperlipidemia
3998	LMAN1	HP:0000790	Hematuria
3998	LMAN1	HP:0003125	Reduced factor VIII activity
3998	LMAN1	HP:0003225	Reduced coagulation factor V activity
3998	LMAN1	HP:0000978	Bruising susceptibility
3998	LMAN1	HP:0000225	Gingival bleeding
3998	LMAN1	HP:0005261	Joint hemorrhage
3998	LMAN1	HP:0030137	Prolonged bleeding following circumcision
3998	LMAN1	HP:0000421	Epistaxis
3998	LMAN1	HP:0001892	Abnormal bleeding
4000	LMNA	HP:0002486	Myotonia
4000	LMNA	HP:0001156	Brachydactyly
4000	LMNA	HP:0025116	Fetal distress
4000	LMNA	HP:0001159	Syndactyly
4000	LMNA	HP:0002460	Distal muscle weakness
4000	LMNA	HP:0003777	Pili torti
4000	LMNA	HP:0008647	Pubertal developmental failure in females
4000	LMNA	HP:0025169	Left ventricular systolic dysfunction
4000	LMNA	HP:0025168	Left ventricular diastolic dysfunction
4000	LMNA	HP:0001196	Short umbilical cord
4000	LMNA	HP:0009924	Aplasia/Hypoplasia involving the nose
4000	LMNA	HP:0009904	Prominent ear helix
4000	LMNA	HP:0010885	Avascular necrosis
4000	LMNA	HP:0008573	Low-frequency sensorineural hearing impairment
4000	LMNA	HP:0007249	Decreased number of small peripheral myelinated nerve fibers
4000	LMNA	HP:0007233	Clusters of axonal regeneration
4000	LMNA	HP:0009882	Short distal phalanx of finger
4000	LMNA	HP:0002421	Poor head control
4000	LMNA	HP:0003761	Calcinosis
4000	LMNA	HP:0003758	Reduced subcutaneous adipose tissue
4000	LMNA	HP:0003724	Shoulder girdle muscle atrophy
4000	LMNA	HP:0003741	Congenital muscular dystrophy
4000	LMNA	HP:0003738	Exercise-induced myalgia
4000	LMNA	HP:0003701	Proximal muscle weakness
4000	LMNA	HP:0003700	Generalized amyotrophy
4000	LMNA	HP:0003717	Minimal subcutaneous fat
4000	LMNA	HP:0003712	Skeletal muscle hypertrophy
4000	LMNA	HP:0001297	Stroke
4000	LMNA	HP:0001270	Motor delay
4000	LMNA	HP:0100820	Glomerulopathy
4000	LMNA	HP:0001288	Gait disturbance
4000	LMNA	HP:0001284	Areflexia
4000	LMNA	HP:0100833	Neoplasm of the small intestine
4000	LMNA	HP:0001279	Syncope
4000	LMNA	HP:0001252	Hypotonia
4000	LMNA	HP:0001249	Intellectual disability
4000	LMNA	HP:0002597	Abnormality of the vasculature
4000	LMNA	HP:0001265	Hyporeflexia
4000	LMNA	HP:0001263	Global developmental delay
4000	LMNA	HP:0007418	Alopecia totalis
4000	LMNA	HP:0008739	Labial pseudohypertrophy
4000	LMNA	HP:0100840	Aplasia/Hypoplasia of the eyebrow
4000	LMNA	HP:0007394	Prominent superficial blood vessels
4000	LMNA	HP:0002540	Inability to walk
4000	LMNA	HP:0002515	Waddling gait
4000	LMNA	HP:0002505	Loss of ambulation
4000	LMNA	HP:0003805	Rimmed vacuoles
4000	LMNA	HP:0008800	Limited hip movement
4000	LMNA	HP:0001397	Hepatic steatosis
4000	LMNA	HP:0000073	Ureteral duplication
4000	LMNA	HP:0025354	Abnormal cellular phenotype
4000	LMNA	HP:0001376	Limitation of joint mobility
4000	LMNA	HP:0001371	Flexion contracture
4000	LMNA	HP:0001385	Hip dysplasia
4000	LMNA	HP:0001387	Joint stiffness
4000	LMNA	HP:0000050	Hypoplastic male external genitalia
4000	LMNA	HP:0000047	Hypospadias
4000	LMNA	HP:0000035	Abnormal testis morphology
4000	LMNA	HP:0002692	Hypoplastic facial bones
4000	LMNA	HP:0008897	Postnatal growth retardation
4000	LMNA	HP:0008887	Adipose tissue loss
4000	LMNA	HP:0007543	Epidermal hyperkeratosis
4000	LMNA	HP:0007509	Patchy hypo- and hyperpigmentation
4000	LMNA	HP:0012084	Abnormality of skeletal muscle fiber size
4000	LMNA	HP:0007495	Prematurely aged appearance
4000	LMNA	HP:0007485	Absence of subcutaneous fat
4000	LMNA	HP:0001324	Muscle weakness
4000	LMNA	HP:0002673	Coxa valga
4000	LMNA	HP:0002671	Basal cell carcinoma
4000	LMNA	HP:0000007	Autosomal recessive inheritance
4000	LMNA	HP:0002669	Osteosarcoma
4000	LMNA	HP:0000006	Autosomal dominant inheritance
4000	LMNA	HP:0002650	Scoliosis
4000	LMNA	HP:0002645	Wormian bones
4000	LMNA	HP:0001315	Reduced tendon reflexes
4000	LMNA	HP:0002616	Aortic root aneurysm
4000	LMNA	HP:0002621	Atherosclerosis
4000	LMNA	HP:0002600	Hyporeflexia of lower limbs
4000	LMNA	HP:0000164	Abnormality of the dentition
4000	LMNA	HP:0000160	Narrow mouth
4000	LMNA	HP:0000176	Submucous cleft hard palate
4000	LMNA	HP:0000144	Decreased fertility
4000	LMNA	HP:0000135	Hypogonadism
4000	LMNA	HP:0002797	Osteolysis
4000	LMNA	HP:0000147	Polycystic ovaries
4000	LMNA	HP:0008994	Proximal muscle weakness in lower limbs
4000	LMNA	HP:0008993	Increased intraabdominal fat
4000	LMNA	HP:0006335	Persistence of primary teeth
4000	LMNA	HP:0008997	Proximal muscle weakness in upper limbs
4000	LMNA	HP:0008981	Calf muscle hypertrophy
4000	LMNA	HP:0008985	Increased intramuscular fat
4000	LMNA	HP:0008988	Pelvic girdle muscle atrophy
4000	LMNA	HP:0008968	Muscle hypertrophy of the lower extremities
4000	LMNA	HP:0008959	Distal upper limb muscle weakness
4000	LMNA	HP:0008948	Proximal upper limb amyotrophy
4000	LMNA	HP:0007618	Subcutaneous calcification
4000	LMNA	HP:0008956	Proximal lower limb amyotrophy
4000	LMNA	HP:0008944	Distal lower limb amyotrophy
4000	LMNA	HP:0006288	Advanced eruption of teeth
4000	LMNA	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands
4000	LMNA	HP:0006266	Small placenta
4000	LMNA	HP:0006267	Large placenta
4000	LMNA	HP:0006248	Limited wrist movement
4000	LMNA	HP:0002781	Upper airway obstruction
4000	LMNA	HP:0000134	Female hypogonadism
4000	LMNA	HP:0002758	Osteoarthritis
4000	LMNA	HP:0002751	Kyphoscoliosis
4000	LMNA	HP:0002747	Respiratory insufficiency due to muscle weakness
4000	LMNA	HP:0002020	Gastroesophageal reflux
4000	LMNA	HP:0002035	Rectal prolapse
4000	LMNA	HP:0005997	Neck joint contracture
4000	LMNA	HP:0003327	Axial muscle weakness
4000	LMNA	HP:0003325	Limb-girdle muscle weakness
4000	LMNA	HP:0003326	Myalgia
4000	LMNA	HP:0003307	Hyperlordosis
4000	LMNA	HP:0003306	Spinal rigidity
4000	LMNA	HP:0005978	Type II diabetes mellitus
4000	LMNA	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
4000	LMNA	HP:0100526	Neoplasm of the lung
4000	LMNA	HP:0011807	Type 1 muscle fiber atrophy
4000	LMNA	HP:0011800	Midface retrusion
4000	LMNA	HP:0002089	Pulmonary hypoplasia
4000	LMNA	HP:0002098	Respiratory distress
4000	LMNA	HP:0002097	Emphysema
4000	LMNA	HP:0002092	Pulmonary arterial hypertension
4000	LMNA	HP:0002093	Respiratory insufficiency
4000	LMNA	HP:0003390	Sensory axonal neuropathy
4000	LMNA	HP:0003378	Axonal degeneration/regeneration
4000	LMNA	HP:0003376	Steppage gait
4000	LMNA	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
4000	LMNA	HP:0003383	Onion bulb formation
4000	LMNA	HP:0003384	Peripheral axonal atrophy
4000	LMNA	HP:0003380	Decreased number of peripheral myelinated nerve fibers
4000	LMNA	HP:0011727	Peroneal muscle weakness
4000	LMNA	HP:0100585	Telangiectasia of the skin
4000	LMNA	HP:0100578	Lipoatrophy
4000	LMNA	HP:0011711	Left anterior fascicular block
4000	LMNA	HP:0011705	First degree atrioventricular block
4000	LMNA	HP:0011706	Second degree atrioventricular block
4000	LMNA	HP:0011702	Abnormal electrophysiology of sinoatrial node origin
4000	LMNA	HP:0040270	Impaired glucose tolerance
4000	LMNA	HP:0040266	Proximal upper limb muscle hypertrophy
4000	LMNA	HP:0008180	Mildly elevated creatine kinase
4000	LMNA	HP:0002155	Hypertriglyceridemia
4000	LMNA	HP:0003484	Upper limb muscle weakness
4000	LMNA	HP:0003482	EMG: axonal abnormality
4000	LMNA	HP:0003447	Axonal loss
4000	LMNA	HP:0003457	EMG abnormality
4000	LMNA	HP:0003458	EMG: myopathic abnormalities
4000	LMNA	HP:0003431	Decreased motor nerve conduction velocity
4000	LMNA	HP:0004757	Paroxysmal atrial fibrillation
4000	LMNA	HP:0004755	Supraventricular tachycardia
4000	LMNA	HP:0004749	Atrial flutter
4000	LMNA	HP:0003418	Back pain
4000	LMNA	HP:0011916	Toe extensor amyotrophy
4000	LMNA	HP:0002170	Intracranial hemorrhage
4000	LMNA	HP:0100490	Camptodactyly of finger
4000	LMNA	HP:0008244	Congenital adrenal hypoplasia
4000	LMNA	HP:0008209	Premature ovarian insufficiency
4000	LMNA	HP:0010505	Limitation of movement at ankles
4000	LMNA	HP:0011832	Narrow nasal tip
4000	LMNA	HP:0008283	Fasting hyperinsulinemia
4000	LMNA	HP:0003596	Middle age onset
4000	LMNA	HP:0003593	Infantile onset
4000	LMNA	HP:0003577	Congenital onset
4000	LMNA	HP:0002240	Hepatomegaly
4000	LMNA	HP:0002223	Absent eyebrow
4000	LMNA	HP:0200102	Sparse or absent eyelashes
4000	LMNA	HP:0002216	Premature graying of hair
4000	LMNA	HP:0002232	Patchy alopecia
4000	LMNA	HP:0002230	Generalized hirsutism
4000	LMNA	HP:0002231	Sparse body hair
4000	LMNA	HP:0003560	Muscular dystrophy
4000	LMNA	HP:0002211	White forelock
4000	LMNA	HP:0002209	Sparse scalp hair
4000	LMNA	HP:0010721	Abnormal hair whorl
4000	LMNA	HP:0100783	Breast aplasia
4000	LMNA	HP:0009726	Renal neoplasm
4000	LMNA	HP:0002289	Alopecia universalis
4000	LMNA	HP:0010648	Dermal translucency
4000	LMNA	HP:0007002	Motor axonal neuropathy
4000	LMNA	HP:0011968	Feeding difficulties
4000	LMNA	HP:0007078	Decreased amplitude of sensory action potentials
4000	LMNA	HP:0008391	Dystrophic fingernails
4000	LMNA	HP:0003697	Scapuloperoneal amyotrophy
4000	LMNA	HP:0001034	Hypermelanotic macule
4000	LMNA	HP:0002362	Shuffling gait
4000	LMNA	HP:0003693	Distal amyotrophy
4000	LMNA	HP:0003691	Scapular winging
4000	LMNA	HP:0003690	Limb muscle weakness
4000	LMNA	HP:0001029	Poikiloderma
4000	LMNA	HP:0003676	Progressive
4000	LMNA	HP:0001007	Hirsutism
4000	LMNA	HP:0001015	Prominent superficial veins
4000	LMNA	HP:0003677	Slowly progressive
4000	LMNA	HP:0002326	Transient ischemic attack
4000	LMNA	HP:0100649	Neoplasm of the oral cavity
4000	LMNA	HP:0200021	Down-sloping shoulders
4000	LMNA	HP:0100659	Abnormal cerebral vascular morphology
4000	LMNA	HP:0100658	Cellulitis
4000	LMNA	HP:0200034	Papule
4000	LMNA	HP:0009839	Osteolytic defects of the distal phalanges of the hand
4000	LMNA	HP:0100678	Premature skin wrinkling
4000	LMNA	HP:0100679	Lack of skin elasticity
4000	LMNA	HP:0100601	Eclampsia
4000	LMNA	HP:0100607	Dysmenorrhea
4000	LMNA	HP:0100615	Ovarian neoplasm
4000	LMNA	HP:0001070	Mottled pigmentation
4000	LMNA	HP:0001072	Thickened skin
4000	LMNA	HP:0200042	Skin ulcer
4000	LMNA	HP:0200041	Skin erosion
4000	LMNA	HP:0007149	Distal upper limb amyotrophy
4000	LMNA	HP:0010766	Ectopic calcification
4000	LMNA	HP:0007126	Proximal amyotrophy
4000	LMNA	HP:0009771	Osteolytic defects of the phalanges of the hand
4000	LMNA	HP:0008419	Intervertebral disc degeneration
4000	LMNA	HP:0004970	Ascending tubular aorta aneurysm
4000	LMNA	HP:0003635	Loss of subcutaneous adipose tissue in limbs
4000	LMNA	HP:0003621	Juvenile onset
4000	LMNA	HP:0004950	Peripheral arterial stenosis
4000	LMNA	HP:0004943	Accelerated atherosclerosis
4000	LMNA	HP:0006824	Cranial nerve paralysis
4000	LMNA	HP:0005595	Generalized hyperkeratosis
4000	LMNA	HP:0004279	Short palm
4000	LMNA	HP:0000621	Entropion
4000	LMNA	HP:0009064	Generalized lipodystrophy
4000	LMNA	HP:0009053	Distal lower limb muscle weakness
4000	LMNA	HP:0011362	Abnormal hair quantity
4000	LMNA	HP:0009049	Peroneal muscle atrophy
4000	LMNA	HP:0011354	Generalized abnormality of skin
4000	LMNA	HP:0000684	Delayed eruption of teeth
4000	LMNA	HP:0012664	Reduced left ventricular ejection fraction
4000	LMNA	HP:0009027	Foot dorsiflexor weakness
4000	LMNA	HP:0000678	Dental crowding
4000	LMNA	HP:0000695	Natal tooth
4000	LMNA	HP:0000685	Hypoplasia of teeth
4000	LMNA	HP:0012645	Enlarged peripheral nerve
4000	LMNA	HP:0009002	Loss of truncal subcutaneous adipose tissue
4000	LMNA	HP:0000668	Hypodontia
4000	LMNA	HP:0004325	Decreased body weight
4000	LMNA	HP:0004322	Short stature
4000	LMNA	HP:0004334	Dermal atrophy
4000	LMNA	HP:0004331	Decreased skull ossification
4000	LMNA	HP:0005659	Thoracic kyphoscoliosis
4000	LMNA	HP:0004326	Cachexia
4000	LMNA	HP:0004308	Ventricular arrhythmia
4000	LMNA	HP:0030685	Decreased adiponectin level
4000	LMNA	HP:0003077	Hyperlipidemia
4000	LMNA	HP:0003076	Glycosuria
4000	LMNA	HP:0003074	Hyperglycemia
4000	LMNA	HP:0003089	Hamstring contractures
4000	LMNA	HP:0004388	Microcolon
4000	LMNA	HP:0004382	Mitral valve calcification
4000	LMNA	HP:0004380	Aortic valve calcification
4000	LMNA	HP:0004361	Abnormal circulating leptin concentration
4000	LMNA	HP:0005692	Joint hyperflexibility
4000	LMNA	HP:0003011	Abnormality of the musculature
4000	LMNA	HP:0004349	Reduced bone mineral density
4000	LMNA	HP:0012745	Short palpebral fissure
4000	LMNA	HP:0100013	Neoplasm of the breast
4000	LMNA	HP:0000767	Pectus excavatum
4000	LMNA	HP:0000765	Abnormal thorax morphology
4000	LMNA	HP:0012723	Sinoatrial block
4000	LMNA	HP:0100031	Neoplasm of the thyroid gland
4000	LMNA	HP:0012722	Heart block
4000	LMNA	HP:0011457	Loss of eyelashes
4000	LMNA	HP:0011463	Childhood onset
4000	LMNA	HP:0011462	Young adult onset
4000	LMNA	HP:0011461	Fetal onset
4000	LMNA	HP:0009130	Hand muscle atrophy
4000	LMNA	HP:0009125	Lipodystrophy
4000	LMNA	HP:0000774	Narrow chest
4000	LMNA	HP:0003124	Hypercholesterolemia
4000	LMNA	HP:0004416	Precocious atherosclerosis
4000	LMNA	HP:0004414	Abnormality of the pulmonary artery
4000	LMNA	HP:0003198	Myopathy
4000	LMNA	HP:0000912	Sprengel anomaly
4000	LMNA	HP:0000905	Progressive clavicular acroosteolysis
4000	LMNA	HP:0004482	Relative macrocephaly
4000	LMNA	HP:0004492	Widely patent fontanelles and sutures
4000	LMNA	HP:0003141	Increased LDL cholesterol concentration
4000	LMNA	HP:0000883	Thin ribs
4000	LMNA	HP:0000855	Insulin resistance
4000	LMNA	HP:0000869	Secondary amenorrhea
4000	LMNA	HP:0100324	Scleroderma
4000	LMNA	HP:0000831	Insulin-resistant diabetes mellitus
4000	LMNA	HP:0000842	Hyperinsulinemia
4000	LMNA	HP:0012804	Corneal ulceration
4000	LMNA	HP:0000819	Diabetes mellitus
4000	LMNA	HP:0000815	Hypergonadotropic hypogonadism
4000	LMNA	HP:0100362	Aplasia of the phalanges of the 3rd toe
4000	LMNA	HP:0000826	Precocious puberty
4000	LMNA	HP:0000822	Hypertension
4000	LMNA	HP:0000823	Delayed puberty
4000	LMNA	HP:0010296	Ankyloglossia
4000	LMNA	HP:0040019	Finger clinodactyly
4000	LMNA	HP:0010239	Aplasia of the middle phalanx of the hand
4000	LMNA	HP:0040078	Axonal degeneration
4000	LMNA	HP:0000894	Short clavicles
4000	LMNA	HP:0010219	Structural foot deformity
4000	LMNA	HP:0003236	Elevated circulating creatine kinase concentration
4000	LMNA	HP:0003233	Decreased HDL cholesterol concentration
4000	LMNA	HP:0030880	Raynaud phenomenon
4000	LMNA	HP:0003202	Skeletal muscle atrophy
4000	LMNA	HP:0034392	Joint contracture
4000	LMNA	HP:0034391	Elbow contracture
4000	LMNA	HP:0003292	Decreased serum leptin
4000	LMNA	HP:0003273	Hip contracture
4000	LMNA	HP:0045075	Sparse eyebrow
4000	LMNA	HP:0030838	Hip pain
4000	LMNA	HP:0000991	Xanthomatosis
4000	LMNA	HP:0000982	Palmoplantar keratoderma
4000	LMNA	HP:0000953	Hyperpigmentation of the skin
4000	LMNA	HP:0000956	Acanthosis nigricans
4000	LMNA	HP:0000961	Cyanosis
4000	LMNA	HP:0000963	Thin skin
4000	LMNA	HP:0000962	Hyperkeratosis
4000	LMNA	HP:0000939	Osteoporosis
4000	LMNA	HP:0000938	Osteopenia
4000	LMNA	HP:0000934	Chondrocalcinosis
4000	LMNA	HP:0040160	Generalized osteoporosis
4000	LMNA	HP:0008070	Sparse hair
4000	LMNA	HP:0008064	Ichthyosis
4000	LMNA	HP:0008065	Aplasia/Hypoplasia of the skin
4000	LMNA	HP:0008069	Neoplasm of the skin
4000	LMNA	HP:0040189	Scaling skin
4000	LMNA	HP:0011675	Arrhythmia
4000	LMNA	HP:0007703	Abnormality of retinal pigmentation
4000	LMNA	HP:0000287	Increased facial adipose tissue
4000	LMNA	HP:0000278	Retrognathia
4000	LMNA	HP:0000293	Full cheeks
4000	LMNA	HP:0001595	Abnormal hair morphology
4000	LMNA	HP:0001597	Abnormality of the nail
4000	LMNA	HP:0001596	Alopecia
4000	LMNA	HP:0031409	Abnormal lymphocyte physiology
4000	LMNA	HP:0000275	Narrow face
4000	LMNA	HP:0000270	Delayed cranial suture closure
4000	LMNA	HP:0000272	Malar flattening
4000	LMNA	HP:0006467	Limited shoulder movement
4000	LMNA	HP:0005115	Supraventricular arrhythmia
4000	LMNA	HP:0005110	Atrial fibrillation
4000	LMNA	HP:0005109	Abnormality of the Achilles tendon
4000	LMNA	HP:0002829	Arthralgia
4000	LMNA	HP:0002827	Hip dislocation
4000	LMNA	HP:0002828	Multiple joint contractures
4000	LMNA	HP:0030084	Clinodactyly
4000	LMNA	HP:0002808	Kyphosis
4000	LMNA	HP:0002804	Arthrogryposis multiplex congenita
4000	LMNA	HP:0006391	Overtubulated long bones
4000	LMNA	HP:0000239	Large fontanelles
4000	LMNA	HP:0031329	Interstitial cardiac fibrosis
4000	LMNA	HP:0000218	High palate
4000	LMNA	HP:0001544	Prominent umbilicus
4000	LMNA	HP:0002875	Exertional dyspnea
4000	LMNA	HP:0001561	Polyhydramnios
4000	LMNA	HP:0000233	Thin vermilion border
4000	LMNA	HP:0030002	Nocturnal lagophthalmos
4000	LMNA	HP:0001558	Decreased fetal movement
4000	LMNA	HP:0000200	Short lingual frenulum
4000	LMNA	HP:0002858	Meningioma
4000	LMNA	HP:0001525	Severe failure to thrive
4000	LMNA	HP:0001522	Death in infancy
4000	LMNA	HP:0001508	Failure to thrive
4000	LMNA	HP:0030053	Stiff skin
4000	LMNA	HP:0030051	Tip-toe gait
4000	LMNA	HP:0001511	Intrauterine growth retardation
4000	LMNA	HP:0001510	Growth delay
4000	LMNA	HP:0001513	Obesity
4000	LMNA	HP:0011079	Impacted tooth
4000	LMNA	HP:0012397	Aortic atherosclerotic lesion
4000	LMNA	HP:0012385	Camptodactyly
4000	LMNA	HP:0011040	Abnormal intrahepatic bile duct morphology
4000	LMNA	HP:0005253	Increased anterioposterior diameter of thorax
4000	LMNA	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility
4000	LMNA	HP:0001608	Abnormality of the voice
4000	LMNA	HP:0002936	Distal sensory impairment
4000	LMNA	HP:0001605	Vocal cord paralysis
4000	LMNA	HP:0001601	Laryngomalacia
4000	LMNA	HP:0005177	Premature arteriosclerosis
4000	LMNA	HP:0005181	Premature coronary artery atherosclerosis
4000	LMNA	HP:0005155	Ventricular escape rhythm
4000	LMNA	HP:0005150	Abnormal atrioventricular conduction
4000	LMNA	HP:0005162	Abnormal left ventricular function
4000	LMNA	HP:0006480	Premature loss of teeth
4000	LMNA	HP:0000365	Hearing impairment
4000	LMNA	HP:0001688	Sinus bradycardia
4000	LMNA	HP:0001698	Pericardial effusion
4000	LMNA	HP:0000369	Low-set ears
4000	LMNA	HP:0030117	Absent muscle fiber emerin
4000	LMNA	HP:0011001	Increased bone mineral density
4000	LMNA	HP:0001669	Transposition of the great arteries
4000	LMNA	HP:0001681	Angina pectoris
4000	LMNA	HP:0001678	Atrioventricular block
4000	LMNA	HP:0000347	Micrognathia
4000	LMNA	HP:0001677	Coronary artery atherosclerosis
4000	LMNA	HP:0001650	Aortic valve stenosis
4000	LMNA	HP:0000320	Bird-like facies
4000	LMNA	HP:0001651	Dextrocardia
4000	LMNA	HP:0000316	Hypertelorism
4000	LMNA	HP:0001646	Abnormal aortic valve morphology
4000	LMNA	HP:0001643	Patent ductus arteriosus
4000	LMNA	HP:0000311	Round face
4000	LMNA	HP:0001645	Sudden cardiac death
4000	LMNA	HP:0001644	Dilated cardiomyopathy
4000	LMNA	HP:0000331	Short chin
4000	LMNA	HP:0001658	Myocardial infarction
4000	LMNA	HP:0001659	Aortic regurgitation
4000	LMNA	HP:0002987	Elbow flexion contracture
4000	LMNA	HP:0001653	Mitral regurgitation
4000	LMNA	HP:0001620	High pitched voice
4000	LMNA	HP:0001622	Premature birth
4000	LMNA	HP:0000308	Microretrognathia
4000	LMNA	HP:0001639	Hypertrophic cardiomyopathy
4000	LMNA	HP:0001635	Congestive heart failure
4000	LMNA	HP:0001637	Abnormal myocardium morphology
4000	LMNA	HP:0001631	Atrial septal defect
4000	LMNA	HP:0001634	Mitral valve prolapse
4000	LMNA	HP:0001633	Abnormal mitral valve morphology
4000	LMNA	HP:0007957	Corneal opacity
4000	LMNA	HP:0012478	Temporomandibular joint ankylosis
4000	LMNA	HP:0004054	Sclerosis of hand bone
4000	LMNA	HP:0005328	Progeroid facial appearance
4000	LMNA	HP:0005339	Abnormality of complement system
4000	LMNA	HP:0006645	Thin clavicles
4000	LMNA	HP:0000407	Sensorineural hearing impairment
4000	LMNA	HP:0001735	Acute pancreatitis
4000	LMNA	HP:0000405	Conductive hearing impairment
4000	LMNA	HP:0001733	Pancreatitis
4000	LMNA	HP:0001709	Third degree atrioventricular block
4000	LMNA	HP:0001718	Mitral stenosis
4000	LMNA	HP:0001714	Ventricular hypertrophy
4000	LMNA	HP:0031546	Cardiac conduction abnormality
4000	LMNA	HP:0012474	Carotid artery occlusion
4000	LMNA	HP:0000494	Downslanted palpebral fissures
4000	LMNA	HP:0030237	Hand muscle weakness
4000	LMNA	HP:0000465	Webbed neck
4000	LMNA	HP:0000468	Increased adipose tissue around the neck
4000	LMNA	HP:0001799	Short nail
4000	LMNA	HP:0000467	Neck muscle weakness
4000	LMNA	HP:0001771	Achilles tendon contracture
4000	LMNA	HP:0000436	Abnormal nasal tip morphology
4000	LMNA	HP:0001763	Pes planus
4000	LMNA	HP:0001765	Hammertoe
4000	LMNA	HP:0000453	Choanal atresia
4000	LMNA	HP:0000444	Convex nasal ridge
4000	LMNA	HP:0000418	Narrow nasal ridge
4000	LMNA	HP:0001744	Splenomegaly
4000	LMNA	HP:0001760	Abnormal foot morphology
4000	LMNA	HP:0000431	Wide nasal bridge
4000	LMNA	HP:0001761	Pes cavus
4000	LMNA	HP:0025708	Early young adult onset
4000	LMNA	HP:0001757	High-frequency sensorineural hearing impairment
4000	LMNA	HP:0006739	Squamous cell carcinoma of the skin
4000	LMNA	HP:0006710	Aplasia/Hypoplasia of the clavicles
4000	LMNA	HP:0030445	Pulmonary carcinoid tumor
4000	LMNA	HP:0005461	Craniofacial disproportion
4000	LMNA	HP:0006785	Limb-girdle muscular dystrophy
4000	LMNA	HP:0006766	Papillary renal cell carcinoma
4000	LMNA	HP:0000518	Cataract
4000	LMNA	HP:0000519	Developmental cataract
4000	LMNA	HP:0000520	Proptosis
4000	LMNA	HP:0001824	Weight loss
4000	LMNA	HP:0001838	Rocker bottom foot
4000	LMNA	HP:0000506	Telecanthus
4000	LMNA	HP:0000508	Ptosis
4000	LMNA	HP:0001808	Fragile nails
4000	LMNA	HP:0001805	Onychogryposis
4000	LMNA	HP:0001810	Dystrophic toenail
4000	LMNA	HP:0012569	Delayed menarche
4000	LMNA	HP:0000586	Shallow orbits
4000	LMNA	HP:0000561	Absent eyelashes
4000	LMNA	HP:0001870	Acroosteolysis of distal phalanges (feet)
4000	LMNA	HP:0000534	Abnormal eyebrow morphology
4000	LMNA	HP:0001883	Talipes
4000	LMNA	HP:0000546	Retinal degeneration
4000	LMNA	HP:0001874	Abnormality of neutrophils
4001	LMNB1	HP:0002493	Upper motor neuron dysfunction
4001	LMNB1	HP:0001137	Alternating esotropia
4001	LMNB1	HP:0008652	Autonomic erectile dysfunction
4001	LMNB1	HP:0007262	Symmetric peripheral demyelination
4001	LMNB1	HP:0007256	Abnormal pyramidal sign
4001	LMNB1	HP:0009879	Simplified gyral pattern
4001	LMNB1	HP:0002415	Leukodystrophy
4001	LMNB1	HP:0001276	Hypertonia
4001	LMNB1	HP:0001278	Orthostatic hypotension
4001	LMNB1	HP:0002599	Head titubation
4001	LMNB1	HP:0001288	Gait disturbance
4001	LMNB1	HP:0001285	Spastic tetraparesis
4001	LMNB1	HP:0001250	Seizure
4001	LMNB1	HP:0001251	Ataxia
4001	LMNB1	HP:0001260	Dysarthria
4001	LMNB1	HP:0001263	Global developmental delay
4001	LMNB1	HP:0001257	Spasticity
4001	LMNB1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
4001	LMNB1	HP:0007371	Corpus callosum atrophy
4001	LMNB1	HP:0007377	Abnormality of somatosensory evoked potentials
4001	LMNB1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4001	LMNB1	HP:0007366	Atrophy/Degeneration affecting the brainstem
4001	LMNB1	HP:0007369	Atrophy/Degeneration affecting the cerebrum
4001	LMNB1	HP:0007351	Upper limb postural tremor
4001	LMNB1	HP:0001371	Flexion contracture
4001	LMNB1	HP:0000016	Urinary retention
4001	LMNB1	HP:0001347	Hyperreflexia
4001	LMNB1	HP:0007480	Decreased sweating due to autonomic dysfunction
4001	LMNB1	HP:0001324	Muscle weakness
4001	LMNB1	HP:0000010	Recurrent urinary tract infections
4001	LMNB1	HP:0001344	Absent speech
4001	LMNB1	HP:0000012	Urinary urgency
4001	LMNB1	HP:0001337	Tremor
4001	LMNB1	HP:0000006	Autosomal dominant inheritance
4001	LMNB1	HP:0001310	Dysmetria
4001	LMNB1	HP:0001302	Pachygyria
4001	LMNB1	HP:0002650	Scoliosis
4001	LMNB1	HP:0001317	Abnormal cerebellum morphology
4001	LMNB1	HP:0002607	Bowel incontinence
4001	LMNB1	HP:0012171	Stereotypical hand wringing
4001	LMNB1	HP:0008936	Axial hypotonia
4001	LMNB1	HP:0000126	Hydronephrosis
4001	LMNB1	HP:0002019	Constipation
4001	LMNB1	HP:0003326	Myalgia
4001	LMNB1	HP:0002015	Dysphagia
4001	LMNB1	HP:0005968	Temperature instability
4001	LMNB1	HP:0002080	Intention tremor
4001	LMNB1	HP:0100543	Cognitive impairment
4001	LMNB1	HP:0002066	Gait ataxia
4001	LMNB1	HP:0002064	Spastic gait
4001	LMNB1	HP:0002079	Hypoplasia of the corpus callosum
4001	LMNB1	HP:0002075	Dysdiadochokinesis
4001	LMNB1	HP:0002045	Hypothermia
4001	LMNB1	HP:0003487	Babinski sign
4001	LMNB1	HP:0002119	Ventriculomegaly
4001	LMNB1	HP:0011931	Abnormal cerebellar peduncle morphology
4001	LMNB1	HP:0002169	Clonus
4001	LMNB1	HP:0002171	Gliosis
4001	LMNB1	HP:0003593	Infantile onset
4001	LMNB1	HP:0002273	Tetraparesis
4001	LMNB1	HP:0100704	Cerebral visual impairment
4001	LMNB1	HP:0003581	Adult onset
4001	LMNB1	HP:0002200	Pseudobulbar signs
4001	LMNB1	HP:0007024	Pseudobulbar paralysis
4001	LMNB1	HP:0011968	Feeding difficulties
4001	LMNB1	HP:0011951	Aspiration pneumonia
4001	LMNB1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
4001	LMNB1	HP:0002344	Progressive neurologic deterioration
4001	LMNB1	HP:0002345	Action tremor
4001	LMNB1	HP:0003676	Progressive
4001	LMNB1	HP:0010845	EEG with generalized slow activity
4001	LMNB1	HP:0010831	Impaired proprioception
4001	LMNB1	HP:0010808	Protruding tongue
4001	LMNB1	HP:0009804	Tooth agenesis
4001	LMNB1	HP:0100639	Erectile dysfunction
4001	LMNB1	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
4001	LMNB1	HP:0006827	Atrophy of the spinal cord
4001	LMNB1	HP:0006886	Impaired distal vibration sensation
4001	LMNB1	HP:0000639	Nystagmus
4001	LMNB1	HP:0000637	Long palpebral fissure
4001	LMNB1	HP:0000666	Horizontal nystagmus
4001	LMNB1	HP:0006989	Dysplastic corpus callosum
4001	LMNB1	HP:0004322	Short stature
4001	LMNB1	HP:0006994	Diffuse leukoencephalopathy
4001	LMNB1	HP:0004302	Functional motor deficit
4001	LMNB1	HP:0006958	Abnormal auditory evoked potentials
4001	LMNB1	HP:0030674	Antenatal onset
4001	LMNB1	HP:0000802	Impotence
4001	LMNB1	HP:0004395	Malnutrition
4001	LMNB1	HP:0031936	Delayed ability to walk
4001	LMNB1	HP:0000751	Personality changes
4001	LMNB1	HP:0000750	Delayed speech and language development
4001	LMNB1	HP:0000716	Depression
4001	LMNB1	HP:0000726	Dementia
4001	LMNB1	HP:0000708	Atypical behavior
4001	LMNB1	HP:0003196	Short nose
4001	LMNB1	HP:0030890	Hyperintensity of cerebral white matter on MRI
4001	LMNB1	HP:0000970	Anhidrosis
4001	LMNB1	HP:0000243	Trigonocephaly
4001	LMNB1	HP:0000252	Microcephaly
4001	LMNB1	HP:0000212	Gingival overgrowth
4001	LMNB1	HP:0001508	Failure to thrive
4001	LMNB1	HP:0006532	Recurrent pneumonia
4001	LMNB1	HP:0002936	Distal sensory impairment
4001	LMNB1	HP:0002922	Increased CSF protein concentration
4001	LMNB1	HP:0000341	Narrow forehead
4001	LMNB1	HP:0000343	Long philtrum
4001	LMNB1	HP:0012332	Abnormal autonomic nervous system physiology
4001	LMNB1	HP:0000316	Hypertelorism
4001	LMNB1	HP:0001655	Patent foramen ovale
4001	LMNB1	HP:0000307	Pointed chin
4001	LMNB1	HP:0005341	Autonomic bladder dysfunction
4001	LMNB1	HP:0000407	Sensorineural hearing impairment
4001	LMNB1	HP:0000496	Abnormality of eye movement
4001	LMNB1	HP:0012450	Chronic constipation
4001	LMNB1	HP:0000411	Protruding ear
4001	LMNB1	HP:0000431	Wide nasal bridge
4001	LMNB1	HP:0000426	Prominent nasal bridge
4001	LMNB1	HP:0000582	Upslanted palpebral fissure
4001	LMNB1	HP:0011231	Prominent eyelashes
4001	LMNB1	HP:0012510	Extra-axial cerebrospinal fluid accumulation
4004	LMO1	HP:0011976	Elevated urinary catecholamines
4004	LMO1	HP:0004375	Neoplasm of the nervous system
4007	PRICKLE3	HP:0001112	Leber optic atrophy
4007	PRICKLE3	HP:0001417	X-linked inheritance
4007	PRICKLE3	HP:0000648	Optic atrophy
4009	LMX1A	HP:0000006	Autosomal dominant inheritance
4009	LMX1A	HP:0005101	High-frequency hearing impairment
4010	LMX1B	HP:0003774	Stage 5 chronic kidney disease
4010	LMX1B	HP:0007328	Impaired pain sensation
4010	LMX1B	HP:0010886	Osteochondritis dissecans
4010	LMX1B	HP:0009890	High anterior hairline
4010	LMX1B	HP:0010864	Intellectual disability, severe
4010	LMX1B	HP:0002414	Spina bifida
4010	LMX1B	HP:0001270	Motor delay
4010	LMX1B	HP:0100820	Glomerulopathy
4010	LMX1B	HP:0001285	Spastic tetraparesis
4010	LMX1B	HP:0001250	Seizure
4010	LMX1B	HP:0002597	Abnormality of the vasculature
4010	LMX1B	HP:0002540	Inability to walk
4010	LMX1B	HP:0002553	Highly arched eyebrow
4010	LMX1B	HP:0002518	Abnormal periventricular white matter morphology
4010	LMX1B	HP:0031006	Acroparesthesia
4010	LMX1B	HP:0000083	Renal insufficiency
4010	LMX1B	HP:0000099	Glomerulonephritis
4010	LMX1B	HP:0000097	Focal segmental glomerulosclerosis
4010	LMX1B	HP:0000093	Proteinuria
4010	LMX1B	HP:0000077	Abnormality of the kidney
4010	LMX1B	HP:0000046	Small scrotum
4010	LMX1B	HP:0001377	Limited elbow extension
4010	LMX1B	HP:0001371	Flexion contracture
4010	LMX1B	HP:0001369	Arthritis
4010	LMX1B	HP:0000054	Micropenis
4010	LMX1B	HP:0001357	Plagiocephaly
4010	LMX1B	HP:0000028	Cryptorchidism
4010	LMX1B	HP:0000007	Autosomal recessive inheritance
4010	LMX1B	HP:0000006	Autosomal dominant inheritance
4010	LMX1B	HP:0003997	Hypoplastic radial head
4010	LMX1B	HP:0002650	Scoliosis
4010	LMX1B	HP:0000160	Narrow mouth
4010	LMX1B	HP:0000175	Cleft palate
4010	LMX1B	HP:0008936	Axial hypotonia
4010	LMX1B	HP:0006297	Enamel hypoplasia
4010	LMX1B	HP:0000123	Nephritis
4010	LMX1B	HP:0012108	Open angle glaucoma
4010	LMX1B	HP:0000100	Nephrotic syndrome
4010	LMX1B	HP:0002019	Constipation
4010	LMX1B	HP:0002003	Large forehead
4010	LMX1B	HP:0002015	Dysphagia
4010	LMX1B	HP:0003304	Spondylolysis
4010	LMX1B	HP:0003302	Spondylolisthesis
4010	LMX1B	HP:0002099	Asthma
4010	LMX1B	HP:0008124	Talipes calcaneovarus
4010	LMX1B	HP:0008110	Equinovarus deformity
4010	LMX1B	HP:0003418	Back pain
4010	LMX1B	HP:0002188	Delayed CNS myelination
4010	LMX1B	HP:0002164	Nail dysplasia
4010	LMX1B	HP:0011825	Tented philtrum
4010	LMX1B	HP:0011822	Broad chin
4010	LMX1B	HP:0004722	Thickened glomerular basement membrane
4010	LMX1B	HP:0003596	Middle age onset
4010	LMX1B	HP:0003584	Late onset
4010	LMX1B	HP:0010720	Abnormal hair pattern
4010	LMX1B	HP:0100798	Fingernail dysplasia
4010	LMX1B	HP:0100797	Toenail dysplasia
4010	LMX1B	HP:0009697	Contracture of the distal interphalangeal joint of the fingers
4010	LMX1B	HP:0010665	Bilateral coxa valga
4010	LMX1B	HP:0001032	Absent distal interphalangeal creases
4010	LMX1B	HP:0001009	Telangiectasia
4010	LMX1B	HP:0010829	Impaired temperature sensation
4010	LMX1B	HP:0200005	Abnormal shape of the palpebral fissure
4010	LMX1B	HP:0009811	Abnormality of the elbow
4010	LMX1B	HP:0100633	Esophagitis
4010	LMX1B	HP:0009780	Iliac horns
4010	LMX1B	HP:0009781	Lester's sign
4010	LMX1B	HP:0009783	Biceps aplasia
4010	LMX1B	HP:0009785	Triceps aplasia
4010	LMX1B	HP:0009788	Quadriceps aplasia
4010	LMX1B	HP:0009760	Antecubital pterygium
4010	LMX1B	HP:0003621	Juvenile onset
4010	LMX1B	HP:0004209	Clinodactyly of the 5th finger
4010	LMX1B	HP:0006855	Cerebellar vermis atrophy
4010	LMX1B	HP:0004322	Short stature
4010	LMX1B	HP:0003083	Dislocated radial head
4010	LMX1B	HP:0003065	Patellar hypoplasia
4010	LMX1B	HP:0003045	Abnormal patella morphology
4010	LMX1B	HP:0031910	Abnormal cranial nerve physiology
4010	LMX1B	HP:0004349	Reduced bone mineral density
4010	LMX1B	HP:0000767	Pectus excavatum
4010	LMX1B	HP:0000750	Delayed speech and language development
4010	LMX1B	HP:0012718	Morphological abnormality of the gastrointestinal tract
4010	LMX1B	HP:0000708	Atypical behavior
4010	LMX1B	HP:0011462	Young adult onset
4010	LMX1B	HP:0000790	Hematuria
4010	LMX1B	HP:0003199	Decreased muscle mass
4010	LMX1B	HP:0000822	Hypertension
4010	LMX1B	HP:0045086	Knee joint hypermobility
4010	LMX1B	HP:0030839	Knee pain
4010	LMX1B	HP:0008007	Primary congenital glaucoma
4010	LMX1B	HP:0000954	Single transverse palmar crease
4010	LMX1B	HP:0000939	Osteoporosis
4010	LMX1B	HP:0008034	Abnormal iris pigmentation
4010	LMX1B	HP:0000293	Full cheeks
4010	LMX1B	HP:0001597	Abnormality of the nail
4010	LMX1B	HP:0001598	Concave nail
4010	LMX1B	HP:0006471	Fixed elbow flexion
4010	LMX1B	HP:0006443	Patellar aplasia
4010	LMX1B	HP:0006437	Disproportionate prominence of the femoral medial condyle
4010	LMX1B	HP:0006424	Elongated radius
4010	LMX1B	HP:0002815	Abnormality of the knee
4010	LMX1B	HP:0002823	Abnormality of femur morphology
4010	LMX1B	HP:0006394	Limited pronation/supination of forearm
4010	LMX1B	HP:0006380	Knee flexion contracture
4010	LMX1B	HP:0000252	Microcephaly
4010	LMX1B	HP:0000248	Brachycephaly
4010	LMX1B	HP:0000233	Thin vermilion border
4010	LMX1B	HP:0000204	Cleft upper lip
4010	LMX1B	HP:0030051	Tip-toe gait
4010	LMX1B	HP:0012376	Microphakia
4010	LMX1B	HP:0000377	Abnormal pinna morphology
4010	LMX1B	HP:0005255	Absence of pectoralis minor muscle
4010	LMX1B	HP:0002938	Lumbar hyperlordosis
4010	LMX1B	HP:0005190	Proximal finger joint hyperextensibility
4010	LMX1B	HP:0002907	Microscopic hematuria
4010	LMX1B	HP:0000369	Low-set ears
4010	LMX1B	HP:0002999	Patellar dislocation
4010	LMX1B	HP:0000348	High forehead
4010	LMX1B	HP:0001643	Patent ductus arteriosus
4010	LMX1B	HP:0000311	Round face
4010	LMX1B	HP:0002992	Abnormality of tibia morphology
4010	LMX1B	HP:0002987	Elbow flexion contracture
4010	LMX1B	HP:0002967	Cubitus valgus
4010	LMX1B	HP:0006633	Glenoid fossa hypoplasia
4010	LMX1B	HP:0007906	Ocular hypertension
4010	LMX1B	HP:0006650	Thickening of the lateral border of the scapula
4010	LMX1B	HP:0006657	Hypoplasia of first ribs
4010	LMX1B	HP:0000407	Sensorineural hearing impairment
4010	LMX1B	HP:0005290	Internal carotid artery hypoplasia
4010	LMX1B	HP:0000483	Astigmatism
4010	LMX1B	HP:0000486	Strabismus
4010	LMX1B	HP:0000482	Microcornea
4010	LMX1B	HP:0000478	Abnormality of the eye
4010	LMX1B	HP:0000470	Short neck
4010	LMX1B	HP:0000465	Webbed neck
4010	LMX1B	HP:0001798	Anonychia
4010	LMX1B	HP:0001771	Achilles tendon contracture
4010	LMX1B	HP:0001772	Talipes equinovalgus
4010	LMX1B	HP:0001763	Pes planus
4010	LMX1B	HP:0000445	Wide nose
4010	LMX1B	HP:0000414	Bulbous nose
4010	LMX1B	HP:0001762	Talipes equinovarus
4010	LMX1B	HP:0000421	Epistaxis
4010	LMX1B	HP:0006702	Coronary artery dissection
4010	LMX1B	HP:0011297	Abnormal digit morphology
4010	LMX1B	HP:0005487	Prominent metopic ridge
4010	LMX1B	HP:0000518	Cataract
4010	LMX1B	HP:0000506	Telecanthus
4010	LMX1B	HP:0000508	Ptosis
4010	LMX1B	HP:0000501	Glaucoma
4010	LMX1B	HP:0001807	Ridged nail
4010	LMX1B	HP:0012579	Minimal change glomerulonephritis
4010	LMX1B	HP:0000563	Keratoconus
4010	LMX1B	HP:0001884	Talipes calcaneovalgus
4014	LORICRIN	HP:0025114	Hypergranulosis
4014	LORICRIN	HP:0007503	Generalized ichthyosis
4014	LORICRIN	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
4014	LORICRIN	HP:0007465	Honeycomb palmoplantar hyperkeratosis
4014	LORICRIN	HP:0000006	Autosomal dominant inheritance
4014	LORICRIN	HP:0000164	Abnormality of the dentition
4014	LORICRIN	HP:0032541	Knuckle pad
4014	LORICRIN	HP:0010491	Digital constriction ring
4014	LORICRIN	HP:0008404	Nail dystrophy
4014	LORICRIN	HP:0001036	Parakeratosis
4014	LORICRIN	HP:0025092	Epidermal acanthosis
4014	LORICRIN	HP:0200035	Skin plaque
4014	LORICRIN	HP:0010783	Erythema
4014	LORICRIN	HP:0009775	Amniotic constriction ring
4014	LORICRIN	HP:0000707	Abnormality of the nervous system
4014	LORICRIN	HP:0000972	Palmoplantar hyperkeratosis
4014	LORICRIN	HP:0000982	Palmoplantar keratoderma
4014	LORICRIN	HP:0000962	Hyperkeratosis
4014	LORICRIN	HP:0040162	Orthokeratosis
4014	LORICRIN	HP:0001595	Abnormal hair morphology
4014	LORICRIN	HP:0001597	Abnormality of the nail
4014	LORICRIN	HP:0001596	Alopecia
4014	LORICRIN	HP:0025525	Scaling skin on fingertip
4014	LORICRIN	HP:0000364	Hearing abnormality
4014	LORICRIN	HP:0000407	Sensorineural hearing impairment
4014	LORICRIN	HP:0001805	Onychogryposis
4015	LOX	HP:0001166	Arachnodactyly
4015	LOX	HP:0001297	Stroke
4015	LOX	HP:0000098	Tall stature
4015	LOX	HP:0001382	Joint hypermobility
4015	LOX	HP:0002686	Prenatal maternal abnormality
4015	LOX	HP:0000023	Inguinal hernia
4015	LOX	HP:0000006	Autosomal dominant inheritance
4015	LOX	HP:0002650	Scoliosis
4015	LOX	HP:0002647	Aortic dissection
4015	LOX	HP:0002616	Aortic root aneurysm
4015	LOX	HP:0012163	Carotid artery dilatation
4015	LOX	HP:0002705	High, narrow palate
4015	LOX	HP:0002140	Ischemic stroke
4015	LOX	HP:0002138	Subarachnoid hemorrhage
4015	LOX	HP:0002107	Pneumothorax
4015	LOX	HP:0002105	Hemoptysis
4015	LOX	HP:0003549	Abnormality of connective tissue
4015	LOX	HP:0200146	Mucoid extracellular matrix accumulation
4015	LOX	HP:0100775	Dural ectasia
4015	LOX	HP:0100749	Chest pain
4015	LOX	HP:0002326	Transient ischemic attack
4015	LOX	HP:0004959	Descending thoracic aorta aneurysm
4015	LOX	HP:0004933	Ascending aortic dissection
4015	LOX	HP:0004950	Peripheral arterial stenosis
4015	LOX	HP:0004944	Dilatation of the cerebral artery
4015	LOX	HP:0000678	Dental crowding
4015	LOX	HP:0000767	Pectus excavatum
4015	LOX	HP:0000766	Abnormal sternum morphology
4015	LOX	HP:0012763	Paroxysmal dyspnea
4015	LOX	HP:0000822	Hypertension
4015	LOX	HP:0000978	Bruising susceptibility
4015	LOX	HP:0000965	Cutis marmorata
4015	LOX	HP:0000278	Retrognathia
4015	LOX	HP:0005113	Aortic arch aneurysm
4015	LOX	HP:0005112	Abdominal aortic aneurysm
4015	LOX	HP:0000218	High palate
4015	LOX	HP:0002875	Exertional dyspnea
4015	LOX	HP:0001519	Disproportionate tall stature
4015	LOX	HP:0005162	Abnormal left ventricular function
4015	LOX	HP:0001677	Coronary artery atherosclerosis
4015	LOX	HP:0001647	Bicuspid aortic valve
4015	LOX	HP:0000316	Hypertelorism
4015	LOX	HP:0001643	Patent ductus arteriosus
4015	LOX	HP:0001659	Aortic regurgitation
4015	LOX	HP:0001653	Mitral regurgitation
4015	LOX	HP:0001640	Cardiomegaly
4015	LOX	HP:0012499	Descending aortic dissection
4015	LOX	HP:0011106	Hypovolemia
4015	LOX	HP:0001763	Pes planus
4015	LOX	HP:0000525	Abnormality iris morphology
4015	LOX	HP:0000545	Myopia
4016	LOXL1	HP:0001132	Lens subluxation
4016	LOXL1	HP:0009916	Anisocoria
4016	LOXL1	HP:0000006	Autosomal dominant inheritance
4016	LOXL1	HP:0002063	Rigidity
4016	LOXL1	HP:0012629	Phakodonesis
4016	LOXL1	HP:0012627	Pseudoexfoliation
4016	LOXL1	HP:0012635	Iris hypoperfusion
4016	LOXL1	HP:0012636	Retinal vein occlusion
4016	LOXL1	HP:0012631	Pigment deposition in the trabecular meshwork
4016	LOXL1	HP:0012633	Asymmetry of intraocular pressure
4016	LOXL1	HP:0011499	Mydriasis
4016	LOXL1	HP:0000518	Cataract
4016	LOXL1	HP:0000517	Abnormal lens morphology
4016	LOXL1	HP:0000501	Glaucoma
4023	LPL	HP:0001114	Xanthelasma
4023	LPL	HP:0002574	Episodic abdominal pain
4023	LPL	HP:0031028	Lactescent serum
4023	LPL	HP:0000007	Autosomal recessive inheritance
4023	LPL	HP:0000006	Autosomal dominant inheritance
4023	LPL	HP:0001433	Hepatosplenomegaly
4023	LPL	HP:0002018	Nausea
4023	LPL	HP:0003362	Increased VLDL cholesterol concentration
4023	LPL	HP:0002013	Vomiting
4023	LPL	HP:0001013	Eruptive xanthomas
4023	LPL	HP:0031800	Elevated circulating apolipoprotein A-II concentration
4023	LPL	HP:0031798	Elevated circulating apolipoprotein B concentration
4023	LPL	HP:0000660	Lipemia retinalis
4023	LPL	HP:0003077	Hyperlipidemia
4023	LPL	HP:0003124	Hypercholesterolemia
4023	LPL	HP:0004416	Precocious atherosclerosis
4023	LPL	HP:0003141	Increased LDL cholesterol concentration
4023	LPL	HP:0000952	Jaundice
4023	LPL	HP:0012238	Increased circulating chylomicron concentration
4023	LPL	HP:0001658	Myocardial infarction
4023	LPL	HP:0001626	Abnormality of the cardiovascular system
4023	LPL	HP:0001733	Pancreatitis
4023	LPL	HP:0001744	Splenomegaly
4026	LPP	HP:0000006	Autosomal dominant inheritance
4026	LPP	HP:0001428	Somatic mutation
4026	LPP	HP:0004808	Acute myeloid leukemia
4035	LRP1	HP:0009938	Sunken cheeks
4035	LRP1	HP:0009926	Epiphora
4035	LRP1	HP:0025249	Comedo
4035	LRP1	HP:0001249	Intellectual disability
4035	LRP1	HP:0007515	Hypoplastic pilosebaceous units
4035	LRP1	HP:0007502	Follicular hyperkeratosis
4035	LRP1	HP:0000007	Autosomal recessive inheritance
4035	LRP1	HP:0031285	Abnormal perifollicular morphology
4035	LRP1	HP:0001067	Neurofibromas
4035	LRP1	HP:0200034	Papule
4035	LRP1	HP:0001075	Atrophic scars
4035	LRP1	HP:0010783	Erythema
4035	LRP1	HP:0032152	Keratosis pilaris
4035	LRP1	HP:0012722	Heart block
4035	LRP1	HP:0000708	Atypical behavior
4035	LRP1	HP:0004426	Abnormal cheek morphology
4035	LRP1	HP:0045059	Hyperkeratotic papule
4035	LRP1	HP:0045075	Sparse eyebrow
4035	LRP1	HP:0100277	Periauricular skin pits
4035	LRP1	HP:0100276	Skin pit
4035	LRP1	HP:0000989	Pruritus
4035	LRP1	HP:0000290	Abnormality of the forehead
4035	LRP1	HP:0000306	Abnormality of the chin
4035	LRP1	HP:0011124	Abnormal epidermal morphology
4035	LRP1	HP:0000464	Abnormality of the neck
4035	LRP1	HP:0000504	Abnormality of vision
4035	LRP1	HP:0000561	Absent eyelashes
4035	LRP1	HP:0012531	Pain
4036	LRP2	HP:0001274	Agenesis of corpus callosum
4036	LRP2	HP:0001250	Seizure
4036	LRP2	HP:0001249	Intellectual disability
4036	LRP2	HP:0001263	Global developmental delay
4036	LRP2	HP:0002566	Intestinal malrotation
4036	LRP2	HP:0100876	Infra-orbital crease
4036	LRP2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
4036	LRP2	HP:0000093	Proteinuria
4036	LRP2	HP:0001338	Partial agenesis of the corpus callosum
4036	LRP2	HP:0000007	Autosomal recessive inheritance
4036	LRP2	HP:0007676	Hypoplasia of the iris
4036	LRP2	HP:0000130	Abnormality of the uterus
4036	LRP2	HP:0011800	Midface retrusion
4036	LRP2	HP:0003577	Congenital onset
4036	LRP2	HP:0005574	Non-acidotic proximal tubulopathy
4036	LRP2	HP:0000612	Iris coloboma
4036	LRP2	HP:0000776	Congenital diaphragmatic hernia
4036	LRP2	HP:0009110	Diaphragmatic eventration
4036	LRP2	HP:0003196	Short nose
4036	LRP2	HP:0000879	Short sternum
4036	LRP2	HP:0000813	Bicornuate uterus
4036	LRP2	HP:0000260	Wide anterior fontanel
4036	LRP2	HP:0000256	Macrocephaly
4036	LRP2	HP:0000272	Malar flattening
4036	LRP2	HP:0001537	Umbilical hernia
4036	LRP2	HP:0001539	Omphalocele
4036	LRP2	HP:0000365	Hearing impairment
4036	LRP2	HP:0000358	Posteriorly rotated ears
4036	LRP2	HP:0011003	High myopia
4036	LRP2	HP:0000369	Low-set ears
4036	LRP2	HP:0000337	Broad forehead
4036	LRP2	HP:0000349	Widow's peak
4036	LRP2	HP:0000316	Hypertelorism
4036	LRP2	HP:0001629	Ventricular septal defect
4036	LRP2	HP:0000407	Sensorineural hearing impairment
4036	LRP2	HP:0005280	Depressed nasal bridge
4036	LRP2	HP:0000494	Downslanted palpebral fissures
4036	LRP2	HP:0000455	Broad nasal tip
4036	LRP2	HP:0000518	Cataract
4036	LRP2	HP:0000529	Progressive visual loss
4036	LRP2	HP:0000520	Proptosis
4036	LRP2	HP:0000556	Retinal dystrophy
4036	LRP2	HP:0000541	Retinal detachment
4036	LRP2	HP:0000545	Myopia
4038	LRP4	HP:0002497	Spastic ataxia
4038	LRP4	HP:0001159	Syndactyly
4038	LRP4	HP:0003722	Neck flexor weakness
4038	LRP4	HP:0001293	Cranial nerve compression
4038	LRP4	HP:0001288	Gait disturbance
4038	LRP4	HP:0001265	Hyporeflexia
4038	LRP4	HP:0001233	2-3 finger syndactyly
4038	LRP4	HP:0006101	Finger syndactyly
4038	LRP4	HP:0008678	Renal hypoplasia/aplasia
4038	LRP4	HP:0003803	Type 1 muscle fiber predominance
4038	LRP4	HP:0000089	Renal hypoplasia
4038	LRP4	HP:0000086	Ectopic kidney
4038	LRP4	HP:0000098	Tall stature
4038	LRP4	HP:0002684	Thickened calvaria
4038	LRP4	HP:0410011	Abnormality of masticatory muscle
4038	LRP4	HP:0007477	Abnormal dermatoglyphics
4038	LRP4	HP:0001324	Muscle weakness
4038	LRP4	HP:0000007	Autosomal recessive inheritance
4038	LRP4	HP:0000006	Autosomal dominant inheritance
4038	LRP4	HP:0002650	Scoliosis
4038	LRP4	HP:0001315	Reduced tendon reflexes
4038	LRP4	HP:0031108	Triceps weakness
4038	LRP4	HP:0012165	Oligodactyly
4038	LRP4	HP:0006357	Premature loss of permanent teeth
4038	LRP4	HP:0005019	Diaphyseal thickening
4038	LRP4	HP:0002705	High, narrow palate
4038	LRP4	HP:0006297	Enamel hypoplasia
4038	LRP4	HP:0001446	Abnormality of the musculature of the upper limbs
4038	LRP4	HP:0002792	Reduced vital capacity
4038	LRP4	HP:0000104	Renal agenesis
4038	LRP4	HP:0002007	Frontal bossing
4038	LRP4	HP:0003312	Abnormal form of the vertebral bodies
4038	LRP4	HP:0002091	Restrictive ventilatory defect
4038	LRP4	HP:0003388	Easy fatigability
4038	LRP4	HP:0005916	Abnormal metacarpal morphology
4038	LRP4	HP:0003484	Upper limb muscle weakness
4038	LRP4	HP:0003458	EMG: myopathic abnormalities
4038	LRP4	HP:0003443	Decreased size of nerve terminals
4038	LRP4	HP:0004736	Crossed fused renal ectopia
4038	LRP4	HP:0003402	Decreased miniature endplate potentials
4038	LRP4	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
4038	LRP4	HP:0002194	Delayed gross motor development
4038	LRP4	HP:0002164	Nail dysplasia
4038	LRP4	HP:0010554	Cutaneous finger syndactyly
4038	LRP4	HP:0002273	Tetraparesis
4038	LRP4	HP:0003577	Congenital onset
4038	LRP4	HP:0003547	Shoulder girdle muscle weakness
4038	LRP4	HP:0100798	Fingernail dysplasia
4038	LRP4	HP:0009701	Metacarpal synostosis
4038	LRP4	HP:0011968	Feeding difficulties
4038	LRP4	HP:0010628	Facial palsy
4038	LRP4	HP:0002355	Difficulty walking
4038	LRP4	HP:0002321	Vertigo
4038	LRP4	HP:0002329	Drowsiness
4038	LRP4	HP:0009838	Curved distal phalanges of the hand
4038	LRP4	HP:0009778	Short thumb
4038	LRP4	HP:0009077	Weakness of long finger extensor muscles
4038	LRP4	HP:0000639	Nystagmus
4038	LRP4	HP:0000651	Diplopia
4038	LRP4	HP:0000648	Optic atrophy
4038	LRP4	HP:0010055	Broad hallux
4038	LRP4	HP:0000682	Abnormal dental enamel morphology
4038	LRP4	HP:0009005	Weakness of the intrinsic hand muscles
4038	LRP4	HP:0000656	Ectropion
4038	LRP4	HP:0000668	Hypodontia
4038	LRP4	HP:0005659	Thoracic kyphoscoliosis
4038	LRP4	HP:0003042	Elbow dislocation
4038	LRP4	HP:0003022	Hypoplasia of the ulna
4038	LRP4	HP:0000772	Abnormal rib morphology
4038	LRP4	HP:0000767	Pectus excavatum
4038	LRP4	HP:0012764	Orthopnea
4038	LRP4	HP:0003103	Abnormal cortical bone morphology
4038	LRP4	HP:0003196	Short nose
4038	LRP4	HP:0004493	Craniofacial hyperostosis
4038	LRP4	HP:0000821	Hypothyroidism
4038	LRP4	HP:0003202	Skeletal muscle atrophy
4038	LRP4	HP:0000961	Cyanosis
4038	LRP4	HP:0100240	Synostosis of joints
4038	LRP4	HP:0009381	Short finger
4038	LRP4	HP:0000256	Macrocephaly
4038	LRP4	HP:0000272	Malar flattening
4038	LRP4	HP:0002827	Hip dislocation
4038	LRP4	HP:0005048	Synostosis of carpal bones
4038	LRP4	HP:0002878	Respiratory failure
4038	LRP4	HP:0000218	High palate
4038	LRP4	HP:0002875	Exertional dyspnea
4038	LRP4	HP:0031374	Ankle weakness
4038	LRP4	HP:0002937	Hemivertebrae
4038	LRP4	HP:0001601	Laryngomalacia
4038	LRP4	HP:0030196	Fatigable weakness of respiratory muscles
4038	LRP4	HP:0030199	Fatigable weakness of neck muscles
4038	LRP4	HP:0000365	Hearing impairment
4038	LRP4	HP:0000366	Abnormality of the nose
4038	LRP4	HP:0011001	Increased bone mineral density
4038	LRP4	HP:0000347	Micrognathia
4038	LRP4	HP:0002983	Micromelia
4038	LRP4	HP:0000316	Hypertelorism
4038	LRP4	HP:0001642	Pulmonic stenosis
4038	LRP4	HP:0002974	Radioulnar synostosis
4038	LRP4	HP:0000322	Short philtrum
4038	LRP4	HP:0002984	Hypoplasia of the radius
4038	LRP4	HP:0000324	Facial asymmetry
4038	LRP4	HP:0000303	Mandibular prognathia
4038	LRP4	HP:0000407	Sensorineural hearing impairment
4038	LRP4	HP:0000494	Downslanted palpebral fissures
4038	LRP4	HP:0000496	Abnormality of eye movement
4038	LRP4	HP:0001798	Anonychia
4038	LRP4	HP:0001770	Toe syndactyly
4038	LRP4	HP:0000444	Convex nasal ridge
4038	LRP4	HP:0000411	Protruding ear
4038	LRP4	HP:0001849	Foot oligodactyly
4038	LRP4	HP:0000518	Cataract
4038	LRP4	HP:0000520	Proptosis
4038	LRP4	HP:0000508	Ptosis
4038	LRP4	HP:0001802	Absent toenail
4038	LRP4	HP:0001817	Absent fingernail
4038	LRP4	HP:0000597	Ophthalmoparesis
4038	LRP4	HP:0011220	Prominent forehead
4038	LRP4	HP:0012515	Hip flexor weakness
4040	LRP6	HP:0000006	Autosomal dominant inheritance
4040	LRP6	HP:0006342	Peg-shaped maxillary lateral incisors
4040	LRP6	HP:0006344	Abnormality of primary molar morphology
4040	LRP6	HP:0006349	Agenesis of permanent teeth
4040	LRP6	HP:0006336	Short dental root
4040	LRP6	HP:0006297	Enamel hypoplasia
4040	LRP6	HP:0006289	Agenesis of central incisor
4040	LRP6	HP:0005978	Type II diabetes mellitus
4040	LRP6	HP:0040270	Impaired glucose tolerance
4040	LRP6	HP:0002155	Hypertriglyceridemia
4040	LRP6	HP:0003581	Adult onset
4040	LRP6	HP:0001952	Glucose intolerance
4040	LRP6	HP:0000696	Delayed eruption of permanent teeth
4040	LRP6	HP:0000684	Delayed eruption of teeth
4040	LRP6	HP:0000679	Taurodontia
4040	LRP6	HP:0000677	Oligodontia
4040	LRP6	HP:0000691	Microdontia
4040	LRP6	HP:0000690	Agenesis of maxillary lateral incisor
4040	LRP6	HP:0000689	Dental malocclusion
4040	LRP6	HP:0000685	Hypoplasia of teeth
4040	LRP6	HP:0000687	Widely spaced teeth
4040	LRP6	HP:0001997	Gout
4040	LRP6	HP:0003141	Increased LDL cholesterol concentration
4040	LRP6	HP:0000822	Hypertension
4040	LRP6	HP:0000939	Osteoporosis
4040	LRP6	HP:0000202	Orofacial cleft
4040	LRP6	HP:0011078	Abnormality of canine
4040	LRP6	HP:0011053	Agenesis of mandibular premolar
4040	LRP6	HP:0011051	Agenesis of premolar
4040	LRP6	HP:0011056	Agenesis of first permanent molar tooth
4040	LRP6	HP:0005216	Impaired mastication
4040	LRP6	HP:0005181	Premature coronary artery atherosclerosis
4040	LRP6	HP:0006482	Abnormality of dental morphology
4040	LRP6	HP:0001645	Sudden cardiac death
4040	LRP6	HP:0001658	Myocardial infarction
4040	LRP6	HP:0012472	Eclabion
4040	LRP6	HP:0011219	Short face
4041	LRP5	HP:0100923	Clavicular sclerosis
4041	LRP5	HP:0001147	Retinal exudate
4041	LRP5	HP:0001141	Severely reduced visual acuity
4041	LRP5	HP:0001136	Retinal arteriolar tortuosity
4041	LRP5	HP:0001103	Abnormal macular morphology
4041	LRP5	HP:0001270	Motor delay
4041	LRP5	HP:0100832	Vitreous floaters
4041	LRP5	HP:0001256	Intellectual disability, mild
4041	LRP5	HP:0001252	Hypotonia
4041	LRP5	HP:0001263	Global developmental delay
4041	LRP5	HP:0100861	Sclerotic vertebral body
4041	LRP5	HP:0002515	Waddling gait
4041	LRP5	HP:0002516	Increased intracranial pressure
4041	LRP5	HP:0003829	Typified by incomplete penetrance
4041	LRP5	HP:0002505	Loss of ambulation
4041	LRP5	HP:0012052	Low serum calcitriol
4041	LRP5	HP:0001388	Joint laxity
4041	LRP5	HP:0001382	Joint hypermobility
4041	LRP5	HP:0002684	Thickened calvaria
4041	LRP5	HP:0001363	Craniosynostosis
4041	LRP5	HP:0008872	Feeding difficulties in infancy
4041	LRP5	HP:0006174	Metacarpal diaphyseal endosteal sclerosis
4041	LRP5	HP:0000002	Abnormality of body height
4041	LRP5	HP:0002659	Increased susceptibility to fractures
4041	LRP5	HP:0000007	Autosomal recessive inheritance
4041	LRP5	HP:0000006	Autosomal dominant inheritance
4041	LRP5	HP:0002650	Scoliosis
4041	LRP5	HP:0002645	Wormian bones
4041	LRP5	HP:0002644	Abnormal pelvic girdle bone morphology
4041	LRP5	HP:0002617	Vascular dilatation
4041	LRP5	HP:0001493	Falciform retinal fold
4041	LRP5	HP:0001489	Posterior vitreous detachment
4041	LRP5	HP:0007685	Peripheral retinal avascularization
4041	LRP5	HP:0005019	Diaphyseal thickening
4041	LRP5	HP:0007663	Reduced visual acuity
4041	LRP5	HP:0008947	Infantile muscular hypotonia
4041	LRP5	HP:0012109	Angle closure glaucoma
4041	LRP5	HP:0002757	Recurrent fractures
4041	LRP5	HP:0002756	Pathologic fracture
4041	LRP5	HP:0000107	Renal cyst
4041	LRP5	HP:0001407	Hepatic cysts
4041	LRP5	HP:0002751	Kyphoscoliosis
4041	LRP5	HP:0002020	Gastroesophageal reflux
4041	LRP5	HP:0003366	Abnormal femoral neck/head morphology
4041	LRP5	HP:0002027	Abdominal pain
4041	LRP5	HP:0002007	Frontal bossing
4041	LRP5	HP:0003312	Abnormal form of the vertebral bodies
4041	LRP5	HP:0002086	Abnormality of the respiratory system
4041	LRP5	HP:0002093	Respiratory insufficiency
4041	LRP5	HP:0008114	Metatarsal diaphyseal endosteal sclerosis
4041	LRP5	HP:0003418	Back pain
4041	LRP5	HP:0002194	Delayed gross motor development
4041	LRP5	HP:0008236	Isosexual precocious puberty
4041	LRP5	HP:0003593	Infantile onset
4041	LRP5	HP:0003577	Congenital onset
4041	LRP5	HP:0003573	Increased total bilirubin
4041	LRP5	HP:0002240	Hepatomegaly
4041	LRP5	HP:0002239	Gastrointestinal hemorrhage
4041	LRP5	HP:0003581	Adult onset
4041	LRP5	HP:0100774	Hyperostosis
4041	LRP5	HP:0100789	Torus palatinus
4041	LRP5	HP:0010628	Facial palsy
4041	LRP5	HP:0002384	Focal impaired awareness seizure
4041	LRP5	HP:0025007	Ectopic fovea
4041	LRP5	HP:0001004	Lymphedema
4041	LRP5	HP:0003677	Slowly progressive
4041	LRP5	HP:0002315	Headache
4041	LRP5	HP:0200025	Mandibular pain
4041	LRP5	HP:0001089	Iris atrophy
4041	LRP5	HP:0030503	Macular telangiectasia
4041	LRP5	HP:0030515	Moderately reduced visual acuity
4041	LRP5	HP:0030551	Visual acuity light perception with projection
4041	LRP5	HP:0005562	Multiple renal cysts
4041	LRP5	HP:0000639	Nystagmus
4041	LRP5	HP:0000648	Optic atrophy
4041	LRP5	HP:0000618	Blindness
4041	LRP5	HP:0030490	Exudative vitreoretinopathy
4041	LRP5	HP:0030496	Macular exudate
4041	LRP5	HP:0011342	Mild global developmental delay
4041	LRP5	HP:0000689	Dental malocclusion
4041	LRP5	HP:0000667	Phthisis bulbi
4041	LRP5	HP:0004322	Short stature
4041	LRP5	HP:0004327	Abnormal vitreous humor morphology
4041	LRP5	HP:0030666	Retinal neovascularization
4041	LRP5	HP:0006934	Congenital nystagmus
4041	LRP5	HP:0030680	Abnormality of cardiovascular system morphology
4041	LRP5	HP:0003016	Metaphyseal widening
4041	LRP5	HP:0004349	Reduced bone mineral density
4041	LRP5	HP:0100014	Epiretinal membrane
4041	LRP5	HP:0000772	Abnormal rib morphology
4041	LRP5	HP:0000750	Delayed speech and language development
4041	LRP5	HP:0012795	Abnormal optic disc morphology
4041	LRP5	HP:0004437	Cranial hyperostosis
4041	LRP5	HP:0003103	Abnormal cortical bone morphology
4041	LRP5	HP:0004425	Flat forehead
4041	LRP5	HP:0000925	Abnormality of the vertebral column
4041	LRP5	HP:0000926	Platyspondyly
4041	LRP5	HP:0004493	Craniofacial hyperostosis
4041	LRP5	HP:0005789	Generalized osteosclerosis
4041	LRP5	HP:0003148	Elevated serum acid phosphatase
4041	LRP5	HP:0011530	Retinal hole
4041	LRP5	HP:0000889	Abnormal clavicle morphology
4041	LRP5	HP:0012802	Broad jaw
4041	LRP5	HP:0040049	Macular edema
4041	LRP5	HP:0040069	Abnormal lower limb bone morphology
4041	LRP5	HP:0004565	Severe platyspondyly
4041	LRP5	HP:0003270	Abdominal distention
4041	LRP5	HP:0004586	Biconcave vertebral bodies
4041	LRP5	HP:0000939	Osteoporosis
4041	LRP5	HP:0000935	Thickened cortex of long bones
4041	LRP5	HP:0000938	Osteopenia
4041	LRP5	HP:0008046	Abnormal retinal vascular morphology
4041	LRP5	HP:0008037	Absent anterior chamber of the eye
4041	LRP5	HP:0000256	Macrocephaly
4041	LRP5	HP:0007773	Vitreoretinopathy
4041	LRP5	HP:0002808	Kyphosis
4041	LRP5	HP:0006367	Crumpled long bones
4041	LRP5	HP:0012230	Rhegmatogenous retinal detachment
4041	LRP5	HP:0000252	Microcephaly
4041	LRP5	HP:0000248	Brachycephaly
4041	LRP5	HP:0001552	Barrel-shaped chest
4041	LRP5	HP:0001507	Growth abnormality
4041	LRP5	HP:0001518	Small for gestational age
4041	LRP5	HP:0007811	Horizontal pendular nystagmus
4041	LRP5	HP:0031526	Subretinal fluid
4041	LRP5	HP:0000384	Preauricular skin tag
4041	LRP5	HP:0007898	Exudative retinopathy
4041	LRP5	HP:0006557	Polycystic liver disease
4041	LRP5	HP:0007875	Congenital blindness
4041	LRP5	HP:0007862	Retinal calcification
4041	LRP5	HP:0000365	Hearing impairment
4041	LRP5	HP:0011002	Osteopetrosis
4041	LRP5	HP:0011001	Increased bone mineral density
4041	LRP5	HP:0000337	Broad forehead
4041	LRP5	HP:0000348	High forehead
4041	LRP5	HP:0002982	Tibial bowing
4041	LRP5	HP:0000316	Hypertelorism
4041	LRP5	HP:0001629	Ventricular septal defect
4041	LRP5	HP:0002953	Vertebral compression fracture
4041	LRP5	HP:0001622	Premature birth
4041	LRP5	HP:0000303	Mandibular prognathia
4041	LRP5	HP:0007957	Corneal opacity
4041	LRP5	HP:0007917	Tractional retinal detachment
4041	LRP5	HP:0007902	Vitreous hemorrhage
4041	LRP5	HP:0000407	Sensorineural hearing impairment
4041	LRP5	HP:0000405	Conductive hearing impairment
4041	LRP5	HP:0001732	Abnormality of the pancreas
4041	LRP5	HP:0005450	Calvarial osteosclerosis
4041	LRP5	HP:0000518	Cataract
4041	LRP5	HP:0000523	Subcapsular cataract
4041	LRP5	HP:0000505	Visual impairment
4041	LRP5	HP:0000592	Blue sclerae
4041	LRP5	HP:0000568	Microphthalmia
4041	LRP5	HP:0000565	Esotropia
4041	LRP5	HP:0000541	Retinal detachment
4041	LRP5	HP:0000533	Chorioretinal atrophy
4043	LRPAP1	HP:0000007	Autosomal recessive inheritance
4043	LRPAP1	HP:0007663	Reduced visual acuity
4043	LRPAP1	HP:0007800	Increased axial length of the globe
4043	LRPAP1	HP:0011003	High myopia
4043	LRPAP1	HP:0000505	Visual impairment
4047	LSS	HP:0001171	Split hand
4047	LSS	HP:0001156	Brachydactyly
4047	LSS	HP:0001250	Seizure
4047	LSS	HP:0001252	Hypotonia
4047	LSS	HP:0001249	Intellectual disability
4047	LSS	HP:0100840	Aplasia/Hypoplasia of the eyebrow
4047	LSS	HP:0008689	Bilateral cryptorchidism
4047	LSS	HP:0001371	Flexion contracture
4047	LSS	HP:0000054	Micropenis
4047	LSS	HP:0000047	Hypospadias
4047	LSS	HP:0000007	Autosomal recessive inheritance
4047	LSS	HP:0002650	Scoliosis
4047	LSS	HP:0002750	Delayed skeletal maturation
4047	LSS	HP:0002079	Hypoplasia of the corpus callosum
4047	LSS	HP:0011842	Abnormal skeletal morphology
4047	LSS	HP:0003577	Congenital onset
4047	LSS	HP:0002221	Absent axillary hair
4047	LSS	HP:0002231	Sparse body hair
4047	LSS	HP:0002225	Sparse pubic hair
4047	LSS	HP:0002209	Sparse scalp hair
4047	LSS	HP:0002353	EEG abnormality
4047	LSS	HP:0001019	Erythroderma
4047	LSS	HP:0200012	Short corpus callosum
4047	LSS	HP:0010764	Short eyelashes
4047	LSS	HP:0003623	Neonatal onset
4047	LSS	HP:0000613	Photophobia
4047	LSS	HP:0000653	Sparse eyelashes
4047	LSS	HP:0004322	Short stature
4047	LSS	HP:0031936	Delayed ability to walk
4047	LSS	HP:0000750	Delayed speech and language development
4047	LSS	HP:0000713	Agitation
4047	LSS	HP:0000729	Autistic behavior
4047	LSS	HP:0000815	Hypergonadotropic hypogonadism
4047	LSS	HP:0045075	Sparse eyebrow
4047	LSS	HP:0008070	Sparse hair
4047	LSS	HP:0008064	Ichthyosis
4047	LSS	HP:0001596	Alopecia
4047	LSS	HP:0005105	Abnormal nasal morphology
4047	LSS	HP:0000252	Microcephaly
4047	LSS	HP:0001510	Growth delay
4047	LSS	HP:0000365	Hearing impairment
4047	LSS	HP:0000400	Macrotia
4047	LSS	HP:0000519	Developmental cataract
4047	LSS	HP:0000572	Visual loss
4052	LTBP1	HP:0001156	Brachydactyly
4052	LTBP1	HP:0001159	Syndactyly
4052	LTBP1	HP:0025167	Fragmented elastic fibers in the dermis
4052	LTBP1	HP:0001270	Motor delay
4052	LTBP1	HP:0001249	Intellectual disability
4052	LTBP1	HP:0008722	Urethral diverticulum
4052	LTBP1	HP:0002553	Highly arched eyebrow
4052	LTBP1	HP:0000076	Vesicoureteral reflux
4052	LTBP1	HP:0001388	Joint laxity
4052	LTBP1	HP:0000023	Inguinal hernia
4052	LTBP1	HP:0001363	Craniosynostosis
4052	LTBP1	HP:0006191	Deep palmar crease
4052	LTBP1	HP:0001332	Dystonia
4052	LTBP1	HP:0001328	Specific learning disability
4052	LTBP1	HP:0000010	Recurrent urinary tract infections
4052	LTBP1	HP:0000007	Autosomal recessive inheritance
4052	LTBP1	HP:0002650	Scoliosis
4052	LTBP1	HP:0002617	Vascular dilatation
4052	LTBP1	HP:0000179	Thick lower lip vermilion
4052	LTBP1	HP:0002756	Pathologic fracture
4052	LTBP1	HP:0002021	Pyloric stenosis
4052	LTBP1	HP:0002011	Morphological central nervous system abnormality
4052	LTBP1	HP:0003300	Ovoid vertebral bodies
4052	LTBP1	HP:0002097	Emphysema
4052	LTBP1	HP:0002093	Respiratory insufficiency
4052	LTBP1	HP:0002107	Pneumothorax
4052	LTBP1	HP:0003593	Infantile onset
4052	LTBP1	HP:0003577	Congenital onset
4052	LTBP1	HP:0002256	Small bowel diverticula
4052	LTBP1	HP:0100790	Hernia
4052	LTBP1	HP:0011968	Feeding difficulties
4052	LTBP1	HP:0003510	Severe short stature
4052	LTBP1	HP:0100679	Lack of skin elasticity
4052	LTBP1	HP:0032153	Joint subluxation
4052	LTBP1	HP:0010750	Dermatochalasis
4052	LTBP1	HP:0003623	Neonatal onset
4052	LTBP1	HP:0004969	Peripheral pulmonary artery stenosis
4052	LTBP1	HP:0004209	Clinodactyly of the 5th finger
4052	LTBP1	HP:0012619	Multiple bladder diverticula
4052	LTBP1	HP:0001999	Abnormal facial shape
4052	LTBP1	HP:0004322	Short stature
4052	LTBP1	HP:0030680	Abnormality of cardiovascular system morphology
4052	LTBP1	HP:0004381	Supravalvular aortic stenosis
4052	LTBP1	HP:0000767	Pectus excavatum
4052	LTBP1	HP:0004426	Abnormal cheek morphology
4052	LTBP1	HP:0000929	Abnormal skull morphology
4052	LTBP1	HP:0034271	Copper beaten skull
4052	LTBP1	HP:0034273	Premature sagging cheeks
4052	LTBP1	HP:0030872	Abnormal cardiac ventricular function
4052	LTBP1	HP:0045027	Abnormality of the thoracic cavity
4052	LTBP1	HP:0010306	Short thorax
4052	LTBP1	HP:0000973	Cutis laxa
4052	LTBP1	HP:0000280	Coarse facial features
4052	LTBP1	HP:0000260	Wide anterior fontanel
4052	LTBP1	HP:0000271	Abnormality of the face
4052	LTBP1	HP:0000270	Delayed cranial suture closure
4052	LTBP1	HP:0002827	Hip dislocation
4052	LTBP1	HP:0000252	Microcephaly
4052	LTBP1	HP:0001582	Redundant skin
4052	LTBP1	HP:0000218	High palate
4052	LTBP1	HP:0001511	Intrauterine growth retardation
4052	LTBP1	HP:0006532	Recurrent pneumonia
4052	LTBP1	HP:0002938	Lumbar hyperlordosis
4052	LTBP1	HP:0000365	Hearing impairment
4052	LTBP1	HP:0011004	Abnormal systemic arterial morphology
4052	LTBP1	HP:0000343	Long philtrum
4052	LTBP1	HP:0012330	Pyelonephritis
4052	LTBP1	HP:0002970	Genu varum
4052	LTBP1	HP:0001635	Congestive heart failure
4052	LTBP1	HP:0006698	Dilatation of the ventricular cavity
4052	LTBP1	HP:0005272	Prominent nasolabial fold
4052	LTBP1	HP:0000494	Downslanted palpebral fissures
4052	LTBP1	HP:0000455	Broad nasal tip
4052	LTBP1	HP:0000444	Convex nasal ridge
4052	LTBP1	HP:0000431	Wide nasal bridge
4052	LTBP1	HP:0000518	Cataract
4052	LTBP1	HP:0000527	Long eyelashes
4052	LTBP1	HP:0000520	Proptosis
4053	LTBP2	HP:0001156	Brachydactyly
4053	LTBP2	HP:0001256	Intellectual disability, mild
4053	LTBP2	HP:0001376	Limitation of joint mobility
4053	LTBP2	HP:0001387	Joint stiffness
4053	LTBP2	HP:0000007	Autosomal recessive inheritance
4053	LTBP2	HP:0000164	Abnormality of the dentition
4053	LTBP2	HP:0030961	Microspherophakia
4053	LTBP2	HP:0001052	Nevus flammeus
4053	LTBP2	HP:0001072	Thickened skin
4053	LTBP2	HP:0001083	Ectopia lentis
4053	LTBP2	HP:0100693	Iridodonesis
4053	LTBP2	HP:0009778	Short thumb
4053	LTBP2	HP:0000613	Photophobia
4053	LTBP2	HP:0004322	Short stature
4053	LTBP2	HP:0030680	Abnormality of cardiovascular system morphology
4053	LTBP2	HP:0000767	Pectus excavatum
4053	LTBP2	HP:0008007	Primary congenital glaucoma
4053	LTBP2	HP:0000951	Abnormality of the skin
4053	LTBP2	HP:0007765	Deep anterior chamber
4053	LTBP2	HP:0000218	High palate
4053	LTBP2	HP:0011003	High myopia
4053	LTBP2	HP:0001650	Aortic valve stenosis
4053	LTBP2	HP:0001642	Pulmonic stenosis
4053	LTBP2	HP:0001653	Mitral regurgitation
4053	LTBP2	HP:0001629	Ventricular septal defect
4053	LTBP2	HP:0007957	Corneal opacity
4053	LTBP2	HP:0007906	Ocular hypertension
4053	LTBP2	HP:0000485	Megalocornea
4053	LTBP2	HP:0000518	Cataract
4053	LTBP2	HP:0000501	Glaucoma
4053	LTBP2	HP:0000594	Shallow anterior chamber
4053	LTBP2	HP:0000572	Visual loss
4053	LTBP2	HP:0000541	Retinal detachment
4053	LTBP2	HP:0000540	Hypermetropia
4053	LTBP2	HP:0000545	Myopia
4054	LTBP3	HP:0001156	Brachydactyly
4054	LTBP3	HP:0001387	Joint stiffness
4054	LTBP3	HP:0002656	Epiphyseal dysplasia
4054	LTBP3	HP:0000007	Autosomal recessive inheritance
4054	LTBP3	HP:0000006	Autosomal dominant inheritance
4054	LTBP3	HP:0002650	Scoliosis
4054	LTBP3	HP:0000179	Thick lower lip vermilion
4054	LTBP3	HP:0000160	Narrow mouth
4054	LTBP3	HP:0006248	Limited wrist movement
4054	LTBP3	HP:0002777	Tracheal stenosis
4054	LTBP3	HP:0002750	Delayed skeletal maturation
4054	LTBP3	HP:0003300	Ovoid vertebral bodies
4054	LTBP3	HP:0002094	Dyspnea
4054	LTBP3	HP:0002090	Pneumonia
4054	LTBP3	HP:0005930	Abnormal epiphysis morphology
4054	LTBP3	HP:0005900	Fifth metacarpal with ulnar notch
4054	LTBP3	HP:0010535	Sleep apnea
4054	LTBP3	HP:0002240	Hepatomegaly
4054	LTBP3	HP:0003510	Severe short stature
4054	LTBP3	HP:0009826	Limb undergrowth
4054	LTBP3	HP:0001072	Thickened skin
4054	LTBP3	HP:0200055	Small hand
4054	LTBP3	HP:0008450	Narrow vertebral interpedicular distance
4054	LTBP3	HP:0008441	Herniation of intervertebral nuclei
4054	LTBP3	HP:0003623	Neonatal onset
4054	LTBP3	HP:0004279	Short palm
4054	LTBP3	HP:0010049	Short metacarpal
4054	LTBP3	HP:0000677	Oligodontia
4054	LTBP3	HP:0000691	Microdontia
4054	LTBP3	HP:0000687	Widely spaced teeth
4054	LTBP3	HP:0004322	Short stature
4054	LTBP3	HP:0000762	Decreased nerve conduction velocity
4054	LTBP3	HP:0000705	Amelogenesis imperfecta
4054	LTBP3	HP:0011463	Childhood onset
4054	LTBP3	HP:0003196	Short nose
4054	LTBP3	HP:0000926	Platyspondyly
4054	LTBP3	HP:0000998	Hypertrichosis
4054	LTBP3	HP:0000293	Full cheeks
4054	LTBP3	HP:0002823	Abnormality of femur morphology
4054	LTBP3	HP:0002878	Respiratory failure
4054	LTBP3	HP:0001561	Polyhydramnios
4054	LTBP3	HP:0001607	Subglottic stenosis
4054	LTBP3	HP:0001609	Hoarse voice
4054	LTBP3	HP:0002945	Intervertebral space narrowing
4054	LTBP3	HP:0000343	Long philtrum
4054	LTBP3	HP:0002996	Limited elbow movement
4054	LTBP3	HP:0000311	Round face
4054	LTBP3	HP:0000327	Hypoplasia of the maxilla
4054	LTBP3	HP:0001653	Mitral regurgitation
4054	LTBP3	HP:0001622	Premature birth
4054	LTBP3	HP:0000303	Mandibular prognathia
4054	LTBP3	HP:0001634	Mitral valve prolapse
4054	LTBP3	HP:0005280	Depressed nasal bridge
4054	LTBP3	HP:0012471	Thick vermilion border
4054	LTBP3	HP:0000463	Anteverted nares
4054	LTBP3	HP:0001773	Short foot
4054	LTBP3	HP:0000414	Bulbous nose
4054	LTBP3	HP:0000431	Wide nasal bridge
4054	LTBP3	HP:0000527	Long eyelashes
4054	LTBP3	HP:0000534	Abnormal eyebrow morphology
4056	LTC4S	HP:0001252	Hypotonia
4056	LTC4S	HP:0001263	Global developmental delay
4056	LTC4S	HP:0000007	Autosomal recessive inheritance
4056	LTC4S	HP:0000252	Microcephaly
4056	LTC4S	HP:0001531	Failure to thrive in infancy
4056	LTC4S	HP:0001522	Death in infancy
4056	LTC4S	HP:0030390	Reduced circulating leukotriene C4 concentration
4068	SH2D1A	HP:0002480	Hepatic encephalopathy
4068	SH2D1A	HP:0100827	Lymphocytosis
4068	SH2D1A	HP:0001287	Meningitis
4068	SH2D1A	HP:0010975	Abnormal B cell count
4068	SH2D1A	HP:0001399	Hepatic failure
4068	SH2D1A	HP:0002665	Lymphoma
4068	SH2D1A	HP:0002633	Vasculitis
4068	SH2D1A	HP:0012178	Reduced natural killer cell activity
4068	SH2D1A	HP:0012156	Hemophagocytosis
4068	SH2D1A	HP:0001419	X-linked recessive inheritance
4068	SH2D1A	HP:0002716	Lymphadenopathy
4068	SH2D1A	HP:0002721	Immunodeficiency
4068	SH2D1A	HP:0004787	Fulminant hepatitis
4068	SH2D1A	HP:0003496	Increased circulating IgM level
4068	SH2D1A	HP:0011839	Abnormal T cell count
4068	SH2D1A	HP:0002240	Hepatomegaly
4068	SH2D1A	HP:0002205	Recurrent respiratory infections
4068	SH2D1A	HP:0100776	Recurrent pharyngitis
4068	SH2D1A	HP:0002383	Infectious encephalitis
4068	SH2D1A	HP:0001954	Recurrent fever
4068	SH2D1A	HP:0001915	Aplastic anemia
4068	SH2D1A	HP:0004315	Decreased circulating IgG level
4068	SH2D1A	HP:0004313	Decreased circulating antibody level
4068	SH2D1A	HP:0003073	Hypoalbuminemia
4068	SH2D1A	HP:0011463	Childhood onset
4068	SH2D1A	HP:0030080	Burkitt lymphoma
4068	SH2D1A	HP:0002961	Dysgammaglobulinemia
4068	SH2D1A	HP:0001744	Splenomegaly
4068	SH2D1A	HP:0031693	Severe Epstein Barr virus infection
4068	SH2D1A	HP:0011227	Elevated circulating C-reactive protein concentration
4068	SH2D1A	HP:0001873	Thrombocytopenia
4068	SH2D1A	HP:0001876	Pancytopenia
4068	SH2D1A	HP:0001875	Neutropenia
4069	LYZ	HP:0000093	Proteinuria
4069	LYZ	HP:0001396	Cholestasis
4069	LYZ	HP:0000006	Autosomal dominant inheritance
4069	LYZ	HP:0000100	Nephrotic syndrome
4069	LYZ	HP:0000112	Nephropathy
4069	LYZ	HP:0002240	Hepatomegaly
4069	LYZ	HP:0009830	Peripheral neuropathy
4069	LYZ	HP:0000790	Hematuria
4069	LYZ	HP:0000822	Hypertension
4069	LYZ	HP:0003216	Generalized amyloid deposition
4069	LYZ	HP:0000988	Skin rash
4069	LYZ	HP:0000969	Edema
4069	LYZ	HP:0001744	Splenomegaly
4070	TACSTD2	HP:0001131	Corneal dystrophy
4070	TACSTD2	HP:0000007	Autosomal recessive inheritance
4070	TACSTD2	HP:0007663	Reduced visual acuity
4070	TACSTD2	HP:0000613	Photophobia
4070	TACSTD2	HP:0000622	Blurred vision
4070	TACSTD2	HP:0011463	Childhood onset
4070	TACSTD2	HP:0000505	Visual impairment
4072	EPCAM	HP:0025129	Abnormal small intestinal mucosa morphology
4072	EPCAM	HP:0001123	Visual field defect
4072	EPCAM	HP:0007256	Abnormal pyramidal sign
4072	EPCAM	HP:0001276	Hypertonia
4072	EPCAM	HP:0001288	Gait disturbance
4072	EPCAM	HP:0100835	Benign neoplasm of the central nervous system
4072	EPCAM	HP:0001250	Seizure
4072	EPCAM	HP:0001252	Hypotonia
4072	EPCAM	HP:0001260	Dysarthria
4072	EPCAM	HP:0002570	Steatorrhea
4072	EPCAM	HP:0002516	Increased intracranial pressure
4072	EPCAM	HP:0001371	Flexion contracture
4072	EPCAM	HP:0001369	Arthritis
4072	EPCAM	HP:0032486	Elevated fecal osmolality
4072	EPCAM	HP:0002671	Basal cell carcinoma
4072	EPCAM	HP:0000007	Autosomal recessive inheritance
4072	EPCAM	HP:0000006	Autosomal dominant inheritance
4072	EPCAM	HP:0002652	Skeletal dysplasia
4072	EPCAM	HP:0002611	Cholestatic liver disease
4072	EPCAM	HP:0012174	Glioblastoma multiforme
4072	EPCAM	HP:0012114	Endometrial carcinoma
4072	EPCAM	HP:0001402	Hepatocellular carcinoma
4072	EPCAM	HP:0002023	Anal atresia
4072	EPCAM	HP:0002024	Malabsorption
4072	EPCAM	HP:0002019	Constipation
4072	EPCAM	HP:0002017	Nausea and vomiting
4072	EPCAM	HP:0002027	Abdominal pain
4072	EPCAM	HP:0002028	Chronic diarrhea
4072	EPCAM	HP:0002013	Vomiting
4072	EPCAM	HP:0002076	Migraine
4072	EPCAM	HP:0002041	Intractable diarrhea
4072	EPCAM	HP:0100571	Cardiac diverticulum
4072	EPCAM	HP:0100576	Amaurosis fugax
4072	EPCAM	HP:0002167	Abnormality of speech or vocalization
4072	EPCAM	HP:0011859	Punctate keratitis
4072	EPCAM	HP:0010526	Dysgraphia
4072	EPCAM	HP:0010524	Agnosia
4072	EPCAM	HP:0034588	Crypt hyperplasia
4072	EPCAM	HP:0003401	Paresthesia
4072	EPCAM	HP:0003596	Middle age onset
4072	EPCAM	HP:0003593	Infantile onset
4072	EPCAM	HP:0002239	Gastrointestinal hemorrhage
4072	EPCAM	HP:0003584	Late onset
4072	EPCAM	HP:0100743	Neoplasm of the rectum
4072	EPCAM	HP:0007018	Attention deficit hyperactivity disorder
4072	EPCAM	HP:0010622	Neoplasm of the skeletal system
4072	EPCAM	HP:0002376	Developmental regression
4072	EPCAM	HP:0002354	Memory impairment
4072	EPCAM	HP:0200020	Corneal erosion
4072	EPCAM	HP:0025090	Abnormal large intestinal mucosa morphology
4072	EPCAM	HP:0100660	Dyskinesia
4072	EPCAM	HP:0200008	Intestinal polyposis
4072	EPCAM	HP:0100615	Ovarian neoplasm
4072	EPCAM	HP:0100613	Death in early adulthood
4072	EPCAM	HP:0010786	Urinary tract neoplasm
4072	EPCAM	HP:0003623	Neonatal onset
4072	EPCAM	HP:0000613	Photophobia
4072	EPCAM	HP:0001944	Dehydration
4072	EPCAM	HP:0003003	Colon cancer
4072	EPCAM	HP:0004374	Hemiplegia/hemiparesis
4072	EPCAM	HP:0003006	Neuroblastoma
4072	EPCAM	HP:0100031	Neoplasm of the thyroid gland
4072	EPCAM	HP:0000738	Hallucinations
4072	EPCAM	HP:0000737	Irritability
4072	EPCAM	HP:0000739	Anxiety
4072	EPCAM	HP:0000716	Depression
4072	EPCAM	HP:0000708	Atypical behavior
4072	EPCAM	HP:0011473	Villous atrophy
4072	EPCAM	HP:0003270	Abdominal distention
4072	EPCAM	HP:0000951	Abnormality of the skin
4072	EPCAM	HP:0002894	Neoplasm of the pancreas
4072	EPCAM	HP:0002893	Pituitary adenoma
4072	EPCAM	HP:0001522	Death in infancy
4072	EPCAM	HP:0000202	Orofacial cleft
4072	EPCAM	HP:0001508	Failure to thrive
4072	EPCAM	HP:0001518	Small for gestational age
4072	EPCAM	HP:0012378	Fatigue
4072	EPCAM	HP:0005208	Secretory diarrhea
4072	EPCAM	HP:0005227	Adenomatous colonic polyposis
4072	EPCAM	HP:0000453	Choanal atresia
4072	EPCAM	HP:0025710	Late young adult onset
4072	EPCAM	HP:0006725	Pancreatic adenocarcinoma
4072	EPCAM	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
4072	EPCAM	HP:0000518	Cataract
4072	EPCAM	HP:0001824	Weight loss
4072	EPCAM	HP:0000505	Visual impairment
4072	EPCAM	HP:0000588	Optic disc coloboma
4081	MAB21L1	HP:0001263	Global developmental delay
4081	MAB21L1	HP:0008707	Absent scrotum
4081	MAB21L1	HP:0001344	Absent speech
4081	MAB21L1	HP:0000007	Autosomal recessive inheritance
4081	MAB21L1	HP:0001305	Dandy-Walker malformation
4081	MAB21L1	HP:0001321	Cerebellar hypoplasia
4081	MAB21L1	HP:0012110	Hypoplasia of the pons
4081	MAB21L1	HP:0002066	Gait ataxia
4081	MAB21L1	HP:0011825	Tented philtrum
4081	MAB21L1	HP:0003577	Congenital onset
4081	MAB21L1	HP:0001007	Hirsutism
4081	MAB21L1	HP:0001097	Keratoconjunctivitis sicca
4081	MAB21L1	HP:0006801	Hyperactive deep tendon reflexes
4081	MAB21L1	HP:0000639	Nystagmus
4081	MAB21L1	HP:0000664	Synophrys
4081	MAB21L1	HP:0000666	Horizontal nystagmus
4081	MAB21L1	HP:0000718	Aggressive behavior
4081	MAB21L1	HP:0000294	Low anterior hairline
4081	MAB21L1	HP:0000252	Microcephaly
4081	MAB21L1	HP:0000358	Posteriorly rotated ears
4081	MAB21L1	HP:0000369	Low-set ears
4081	MAB21L1	HP:0000343	Long philtrum
4081	MAB21L1	HP:0000319	Smooth philtrum
4081	MAB21L1	HP:0006610	Wide intermamillary distance
4081	MAB21L1	HP:0000486	Strabismus
4081	MAB21L1	HP:0000463	Anteverted nares
4081	MAB21L1	HP:0000411	Protruding ear
4081	MAB21L1	HP:0000527	Long eyelashes
4081	MAB21L1	HP:0000505	Visual impairment
4081	MAB21L1	HP:0011230	Laterally extended eyebrow
4081	MAB21L1	HP:0000557	Buphthalmos
4081	MAB21L1	HP:0000546	Retinal degeneration
4087	SMAD2	HP:0001166	Arachnodactyly
4087	SMAD2	HP:0001297	Stroke
4087	SMAD2	HP:0001250	Seizure
4087	SMAD2	HP:0001263	Global developmental delay
4087	SMAD2	HP:0002566	Intestinal malrotation
4087	SMAD2	HP:0000098	Tall stature
4087	SMAD2	HP:0002686	Prenatal maternal abnormality
4087	SMAD2	HP:0000023	Inguinal hernia
4087	SMAD2	HP:0008843	Hip osteoarthritis
4087	SMAD2	HP:0000007	Autosomal recessive inheritance
4087	SMAD2	HP:0000006	Autosomal dominant inheritance
4087	SMAD2	HP:0002650	Scoliosis
4087	SMAD2	HP:0002647	Aortic dissection
4087	SMAD2	HP:0002619	Varicose veins
4087	SMAD2	HP:0002616	Aortic root aneurysm
4087	SMAD2	HP:0012158	Carotid artery dissection
4087	SMAD2	HP:0012163	Carotid artery dilatation
4087	SMAD2	HP:0006315	Solitary median maxillary central incisor
4087	SMAD2	HP:0002705	High, narrow palate
4087	SMAD2	HP:0007598	Bilateral single transverse palmar creases
4087	SMAD2	HP:0011800	Midface retrusion
4087	SMAD2	HP:0002140	Ischemic stroke
4087	SMAD2	HP:0002138	Subarachnoid hemorrhage
4087	SMAD2	HP:0002107	Pneumothorax
4087	SMAD2	HP:0002105	Hemoptysis
4087	SMAD2	HP:0003577	Congenital onset
4087	SMAD2	HP:0003581	Adult onset
4087	SMAD2	HP:0003549	Abnormality of connective tissue
4087	SMAD2	HP:0200146	Mucoid extracellular matrix accumulation
4087	SMAD2	HP:0100775	Dural ectasia
4087	SMAD2	HP:0100749	Chest pain
4087	SMAD2	HP:0001065	Striae distensae
4087	SMAD2	HP:0002326	Transient ischemic attack
4087	SMAD2	HP:0010773	Partial anomalous pulmonary venous return
4087	SMAD2	HP:0010772	Anomalous pulmonary venous return
4087	SMAD2	HP:0008419	Intervertebral disc degeneration
4087	SMAD2	HP:0004959	Descending thoracic aorta aneurysm
4087	SMAD2	HP:0004933	Ascending aortic dissection
4087	SMAD2	HP:0004950	Peripheral arterial stenosis
4087	SMAD2	HP:0004944	Dilatation of the cerebral artery
4087	SMAD2	HP:0031853	Isomerism
4087	SMAD2	HP:0004322	Short stature
4087	SMAD2	HP:0034179	Vertebral artery aneurysm
4087	SMAD2	HP:0000766	Abnormal sternum morphology
4087	SMAD2	HP:0012727	Thoracic aortic aneurysm
4087	SMAD2	HP:0012763	Paroxysmal dyspnea
4087	SMAD2	HP:0000822	Hypertension
4087	SMAD2	HP:0011579	Unbalanced atrioventricular canal defect
4087	SMAD2	HP:0000978	Bruising susceptibility
4087	SMAD2	HP:0000965	Cutis marmorata
4087	SMAD2	HP:0011669	Left superior vena cava draining directly to the left atrium
4087	SMAD2	HP:0000278	Retrognathia
4087	SMAD2	HP:0000276	Long face
4087	SMAD2	HP:0005112	Abdominal aortic aneurysm
4087	SMAD2	HP:0002829	Arthralgia
4087	SMAD2	HP:0005086	Knee osteoarthritis
4087	SMAD2	HP:0000218	High palate
4087	SMAD2	HP:0002875	Exertional dyspnea
4087	SMAD2	HP:0031348	Dextrotransposition of the great arteries
4087	SMAD2	HP:0001519	Disproportionate tall stature
4087	SMAD2	HP:0001607	Subglottic stenosis
4087	SMAD2	HP:0001601	Laryngomalacia
4087	SMAD2	HP:0005162	Abnormal left ventricular function
4087	SMAD2	HP:0000358	Posteriorly rotated ears
4087	SMAD2	HP:0000369	Low-set ears
4087	SMAD2	HP:0000337	Broad forehead
4087	SMAD2	HP:0001677	Coronary artery atherosclerosis
4087	SMAD2	HP:0001651	Dextrocardia
4087	SMAD2	HP:0001647	Bicuspid aortic valve
4087	SMAD2	HP:0000316	Hypertelorism
4087	SMAD2	HP:0001643	Patent ductus arteriosus
4087	SMAD2	HP:0001642	Pulmonic stenosis
4087	SMAD2	HP:0001659	Aortic regurgitation
4087	SMAD2	HP:0001629	Ventricular septal defect
4087	SMAD2	HP:0001640	Cardiomegaly
4087	SMAD2	HP:0001631	Atrial septal defect
4087	SMAD2	HP:0012499	Descending aortic dissection
4087	SMAD2	HP:0001719	Double outlet right ventricle
4087	SMAD2	HP:0001714	Ventricular hypertrophy
4087	SMAD2	HP:0011106	Hypovolemia
4087	SMAD2	HP:0001770	Toe syndactyly
4087	SMAD2	HP:0012432	Chronic fatigue
4087	SMAD2	HP:0001763	Pes planus
4087	SMAD2	HP:0001746	Asplenia
4087	SMAD2	HP:0000525	Abnormality iris morphology
4088	SMAD3	HP:0001166	Arachnodactyly
4088	SMAD3	HP:0410151	Eosinophilic infiltration of the esophagus
4088	SMAD3	HP:0010886	Osteochondritis dissecans
4088	SMAD3	HP:0001297	Stroke
4088	SMAD3	HP:0000098	Tall stature
4088	SMAD3	HP:0001388	Joint laxity
4088	SMAD3	HP:0002686	Prenatal maternal abnormality
4088	SMAD3	HP:0000023	Inguinal hernia
4088	SMAD3	HP:0001363	Craniosynostosis
4088	SMAD3	HP:0008843	Hip osteoarthritis
4088	SMAD3	HP:0000006	Autosomal dominant inheritance
4088	SMAD3	HP:0002650	Scoliosis
4088	SMAD3	HP:0002647	Aortic dissection
4088	SMAD3	HP:0002619	Varicose veins
4088	SMAD3	HP:0002616	Aortic root aneurysm
4088	SMAD3	HP:0002617	Vascular dilatation
4088	SMAD3	HP:0025487	Abnormality of bladder morphology
4088	SMAD3	HP:0000193	Bifid uvula
4088	SMAD3	HP:0012163	Carotid artery dilatation
4088	SMAD3	HP:0000175	Cleft palate
4088	SMAD3	HP:0000139	Uterine prolapse
4088	SMAD3	HP:0002705	High, narrow palate
4088	SMAD3	HP:0002758	Osteoarthritis
4088	SMAD3	HP:0003302	Spondylolisthesis
4088	SMAD3	HP:0002076	Migraine
4088	SMAD3	HP:0002140	Ischemic stroke
4088	SMAD3	HP:0002138	Subarachnoid hemorrhage
4088	SMAD3	HP:0002107	Pneumothorax
4088	SMAD3	HP:0002105	Hemoptysis
4088	SMAD3	HP:0100490	Camptodactyly of finger
4088	SMAD3	HP:0003549	Abnormality of connective tissue
4088	SMAD3	HP:0200146	Mucoid extracellular matrix accumulation
4088	SMAD3	HP:0100775	Dural ectasia
4088	SMAD3	HP:0100749	Chest pain
4088	SMAD3	HP:0010648	Dermal translucency
4088	SMAD3	HP:0010646	Cervical spine instability
4088	SMAD3	HP:0001065	Striae distensae
4088	SMAD3	HP:0002315	Headache
4088	SMAD3	HP:0002326	Transient ischemic attack
4088	SMAD3	HP:0100645	Cystocele
4088	SMAD3	HP:0001075	Atrophic scars
4088	SMAD3	HP:0001083	Ectopia lentis
4088	SMAD3	HP:0008419	Intervertebral disc degeneration
4088	SMAD3	HP:0004959	Descending thoracic aorta aneurysm
4088	SMAD3	HP:0004938	Tortuous cerebral arteries
4088	SMAD3	HP:0004933	Ascending aortic dissection
4088	SMAD3	HP:0004950	Peripheral arterial stenosis
4088	SMAD3	HP:0004944	Dilatation of the cerebral artery
4088	SMAD3	HP:0004942	Aortic aneurysm
4088	SMAD3	HP:0004268	Osteoarthritis of the small joints of the hand
4088	SMAD3	HP:0000689	Dental malocclusion
4088	SMAD3	HP:0000767	Pectus excavatum
4088	SMAD3	HP:0000766	Abnormal sternum morphology
4088	SMAD3	HP:0000768	Pectus carinatum
4088	SMAD3	HP:0012727	Thoracic aortic aneurysm
4088	SMAD3	HP:0012763	Paroxysmal dyspnea
4088	SMAD3	HP:0003179	Protrusio acetabuli
4088	SMAD3	HP:0000822	Hypertension
4088	SMAD3	HP:0011645	Dilatation of the sinus of Valsalva
4088	SMAD3	HP:0000978	Bruising susceptibility
4088	SMAD3	HP:0000977	Soft skin
4088	SMAD3	HP:0000987	Atypical scarring of skin
4088	SMAD3	HP:0000965	Cutis marmorata
4088	SMAD3	HP:0000939	Osteoporosis
4088	SMAD3	HP:0000278	Retrognathia
4088	SMAD3	HP:0000276	Long face
4088	SMAD3	HP:0000272	Malar flattening
4088	SMAD3	HP:0000268	Dolichocephaly
4088	SMAD3	HP:0005116	Arterial tortuosity
4088	SMAD3	HP:0005112	Abdominal aortic aneurysm
4088	SMAD3	HP:0005110	Atrial fibrillation
4088	SMAD3	HP:0005086	Knee osteoarthritis
4088	SMAD3	HP:0000218	High palate
4088	SMAD3	HP:0002875	Exertional dyspnea
4088	SMAD3	HP:0001537	Umbilical hernia
4088	SMAD3	HP:0001519	Disproportionate tall stature
4088	SMAD3	HP:0012385	Camptodactyly
4088	SMAD3	HP:0005162	Abnormal left ventricular function
4088	SMAD3	HP:0001699	Sudden death
4088	SMAD3	HP:0000348	High forehead
4088	SMAD3	HP:0001677	Coronary artery atherosclerosis
4088	SMAD3	HP:0001647	Bicuspid aortic valve
4088	SMAD3	HP:0000316	Hypertelorism
4088	SMAD3	HP:0001643	Patent ductus arteriosus
4088	SMAD3	HP:0001642	Pulmonic stenosis
4088	SMAD3	HP:0001659	Aortic regurgitation
4088	SMAD3	HP:0001653	Mitral regurgitation
4088	SMAD3	HP:0001627	Abnormal heart morphology
4088	SMAD3	HP:0001640	Cardiomegaly
4088	SMAD3	HP:0001631	Atrial septal defect
4088	SMAD3	HP:0001634	Mitral valve prolapse
4088	SMAD3	HP:0012499	Descending aortic dissection
4088	SMAD3	HP:0006687	Aortic tortuosity
4088	SMAD3	HP:0001712	Left ventricular hypertrophy
4088	SMAD3	HP:0001714	Ventricular hypertrophy
4088	SMAD3	HP:0005294	Arterial dissection
4088	SMAD3	HP:0011106	Hypovolemia
4088	SMAD3	HP:0012432	Chronic fatigue
4088	SMAD3	HP:0001763	Pes planus
4088	SMAD3	HP:0001762	Talipes equinovarus
4088	SMAD3	HP:0000518	Cataract
4088	SMAD3	HP:0000525	Abnormality iris morphology
4088	SMAD3	HP:0000520	Proptosis
4088	SMAD3	HP:0000577	Exotropia
4089	SMAD4	HP:0001156	Brachydactyly
4089	SMAD4	HP:0001166	Arachnodactyly
4089	SMAD4	HP:0008551	Microtia
4089	SMAD4	HP:0002408	Cerebral arteriovenous malformation
4089	SMAD4	HP:0003720	Generalized muscle hypertrophy
4089	SMAD4	HP:0003712	Skeletal muscle hypertrophy
4089	SMAD4	HP:0001297	Stroke
4089	SMAD4	HP:0001250	Seizure
4089	SMAD4	HP:0001251	Ataxia
4089	SMAD4	HP:0001249	Intellectual disability
4089	SMAD4	HP:0001263	Global developmental delay
4089	SMAD4	HP:0002576	Intussusception
4089	SMAD4	HP:0002573	Hematochezia
4089	SMAD4	HP:0100896	Rectal polyposis
4089	SMAD4	HP:0007420	Spontaneous hematomas
4089	SMAD4	HP:0001217	Clubbing
4089	SMAD4	HP:0000098	Tall stature
4089	SMAD4	HP:0001399	Hepatic failure
4089	SMAD4	HP:0001394	Cirrhosis
4089	SMAD4	HP:0001376	Limitation of joint mobility
4089	SMAD4	HP:0000036	Abnormal penis morphology
4089	SMAD4	HP:0000039	Epispadias
4089	SMAD4	HP:0001387	Joint stiffness
4089	SMAD4	HP:0000047	Hypospadias
4089	SMAD4	HP:0002686	Prenatal maternal abnormality
4089	SMAD4	HP:0000023	Inguinal hernia
4089	SMAD4	HP:0002684	Thickened calvaria
4089	SMAD4	HP:0025318	Ovarian carcinoma
4089	SMAD4	HP:0000028	Cryptorchidism
4089	SMAD4	HP:0008818	Large iliac wing
4089	SMAD4	HP:0001328	Specific learning disability
4089	SMAD4	HP:0001342	Cerebral hemorrhage
4089	SMAD4	HP:0002672	Gastrointestinal carcinoma
4089	SMAD4	HP:0000006	Autosomal dominant inheritance
4089	SMAD4	HP:0002650	Scoliosis
4089	SMAD4	HP:0002647	Aortic dissection
4089	SMAD4	HP:0002616	Aortic root aneurysm
4089	SMAD4	HP:0000193	Bifid uvula
4089	SMAD4	HP:0012163	Carotid artery dilatation
4089	SMAD4	HP:0000160	Narrow mouth
4089	SMAD4	HP:0000159	Abnormal lip morphology
4089	SMAD4	HP:0000176	Submucous cleft hard palate
4089	SMAD4	HP:0000175	Cleft palate
4089	SMAD4	HP:0000135	Hypogonadism
4089	SMAD4	HP:0410067	Increased level of L-fucose in urine
4089	SMAD4	HP:0410030	Cleft lip
4089	SMAD4	HP:0002705	High, narrow palate
4089	SMAD4	HP:0001428	Somatic mutation
4089	SMAD4	HP:0001433	Hepatosplenomegaly
4089	SMAD4	HP:0001409	Portal hypertension
4089	SMAD4	HP:0002716	Lymphadenopathy
4089	SMAD4	HP:0002017	Nausea and vomiting
4089	SMAD4	HP:0002035	Rectal prolapse
4089	SMAD4	HP:0004691	2-3 toe syndactyly
4089	SMAD4	HP:0002027	Abdominal pain
4089	SMAD4	HP:0002014	Diarrhea
4089	SMAD4	HP:0004621	Enlarged vertebral pedicles
4089	SMAD4	HP:0011800	Midface retrusion
4089	SMAD4	HP:0100541	Femoral hernia
4089	SMAD4	HP:0002092	Pulmonary arterial hypertension
4089	SMAD4	HP:0002093	Respiratory insufficiency
4089	SMAD4	HP:0002076	Migraine
4089	SMAD4	HP:0002040	Esophageal varix
4089	SMAD4	HP:0002039	Anorexia
4089	SMAD4	HP:0009466	Radial deviation of finger
4089	SMAD4	HP:0100585	Telangiectasia of the skin
4089	SMAD4	HP:0100579	Mucosal telangiectasiae
4089	SMAD4	HP:0100592	Peritoneal abscess
4089	SMAD4	HP:0005930	Abnormal epiphysis morphology
4089	SMAD4	HP:0002140	Ischemic stroke
4089	SMAD4	HP:0002138	Subarachnoid hemorrhage
4089	SMAD4	HP:0004784	Juvenile gastrointestinal polyposis
4089	SMAD4	HP:0004783	Duodenal polyposis
4089	SMAD4	HP:0003457	EMG abnormality
4089	SMAD4	HP:0002107	Pneumothorax
4089	SMAD4	HP:0002105	Hemoptysis
4089	SMAD4	HP:0003418	Back pain
4089	SMAD4	HP:0010579	Cone-shaped epiphysis
4089	SMAD4	HP:0002239	Gastrointestinal hemorrhage
4089	SMAD4	HP:0002254	Intermittent diarrhea
4089	SMAD4	HP:0003581	Adult onset
4089	SMAD4	HP:0003549	Abnormality of connective tissue
4089	SMAD4	HP:0004894	Laryngotracheal stenosis
4089	SMAD4	HP:0003561	Birth length less than 3rd percentile
4089	SMAD4	HP:0002213	Fine hair
4089	SMAD4	HP:0002204	Pulmonary embolism
4089	SMAD4	HP:0200146	Mucoid extracellular matrix accumulation
4089	SMAD4	HP:0100784	Peripheral arteriovenous fistula
4089	SMAD4	HP:0100775	Dural ectasia
4089	SMAD4	HP:0100749	Chest pain
4089	SMAD4	HP:0100761	Visceral angiomatosis
4089	SMAD4	HP:0003510	Severe short stature
4089	SMAD4	HP:0001048	Cavernous hemangioma
4089	SMAD4	HP:0001009	Telangiectasia
4089	SMAD4	HP:0001017	Anemic pallor
4089	SMAD4	HP:0002326	Transient ischemic attack
4089	SMAD4	HP:0100659	Abnormal cerebral vascular morphology
4089	SMAD4	HP:0200008	Intestinal polyposis
4089	SMAD4	HP:0001072	Thickened skin
4089	SMAD4	HP:0001081	Cholelithiasis
4089	SMAD4	HP:0001082	Cholecystitis
4089	SMAD4	HP:0008499	High hypermetropia
4089	SMAD4	HP:0004959	Descending thoracic aorta aneurysm
4089	SMAD4	HP:0004936	Venous thrombosis
4089	SMAD4	HP:0004933	Ascending aortic dissection
4089	SMAD4	HP:0004950	Peripheral arterial stenosis
4089	SMAD4	HP:0004944	Dilatation of the cerebral artery
4089	SMAD4	HP:0004942	Aortic aneurysm
4089	SMAD4	HP:0004279	Short palm
4089	SMAD4	HP:0000646	Amblyopia
4089	SMAD4	HP:0001935	Microcytic anemia
4089	SMAD4	HP:0001903	Anemia
4089	SMAD4	HP:0004322	Short stature
4089	SMAD4	HP:0003002	Breast carcinoma
4089	SMAD4	HP:0003003	Colon cancer
4089	SMAD4	HP:0030690	Gingival cleft
4089	SMAD4	HP:0003073	Hypoalbuminemia
4089	SMAD4	HP:0004389	Intestinal pseudo-obstruction
4089	SMAD4	HP:0004396	Poor appetite
4089	SMAD4	HP:0004394	Multiple gastric polyps
4089	SMAD4	HP:0004390	Hamartomatous polyposis
4089	SMAD4	HP:0003026	Short long bone
4089	SMAD4	HP:0012745	Short palpebral fissure
4089	SMAD4	HP:0000772	Abnormal rib morphology
4089	SMAD4	HP:0000766	Abnormal sternum morphology
4089	SMAD4	HP:0100026	Arteriovenous malformation
4089	SMAD4	HP:0000717	Autism
4089	SMAD4	HP:0000708	Atypical behavior
4089	SMAD4	HP:0012763	Paroxysmal dyspnea
4089	SMAD4	HP:0000790	Hematuria
4089	SMAD4	HP:0000787	Nephrolithiasis
4089	SMAD4	HP:0000926	Platyspondyly
4089	SMAD4	HP:0003172	Abnormality of the pubic bone
4089	SMAD4	HP:0004493	Craniofacial hyperostosis
4089	SMAD4	HP:0000885	Broad ribs
4089	SMAD4	HP:0100333	Unilateral cleft lip
4089	SMAD4	HP:0000819	Diabetes mellitus
4089	SMAD4	HP:0000826	Precocious puberty
4089	SMAD4	HP:0000822	Hypertension
4089	SMAD4	HP:0003241	External genital hypoplasia
4089	SMAD4	HP:0000978	Bruising susceptibility
4089	SMAD4	HP:0000952	Jaundice
4089	SMAD4	HP:0000969	Edema
4089	SMAD4	HP:0000965	Cutis marmorata
4089	SMAD4	HP:0045025	Narrow palpebral fissure
4089	SMAD4	HP:0000944	Abnormal metaphysis morphology
4089	SMAD4	HP:0008070	Sparse hair
4089	SMAD4	HP:0009381	Short finger
4089	SMAD4	HP:0000278	Retrognathia
4089	SMAD4	HP:0000256	Macrocephaly
4089	SMAD4	HP:0000272	Malar flattening
4089	SMAD4	HP:0005112	Abdominal aortic aneurysm
4089	SMAD4	HP:0007763	Retinal telangiectasia
4089	SMAD4	HP:0030084	Clinodactyly
4089	SMAD4	HP:0002896	Neoplasm of the liver
4089	SMAD4	HP:0000252	Microcephaly
4089	SMAD4	HP:0000219	Thin upper lip vermilion
4089	SMAD4	HP:0002878	Respiratory failure
4089	SMAD4	HP:0002875	Exertional dyspnea
4089	SMAD4	HP:0002894	Neoplasm of the pancreas
4089	SMAD4	HP:0000233	Thin vermilion border
4089	SMAD4	HP:0002861	Melanoma
4089	SMAD4	HP:0002866	Hypoplastic iliac wing
4089	SMAD4	HP:0001508	Failure to thrive
4089	SMAD4	HP:0001518	Small for gestational age
4089	SMAD4	HP:0030053	Stiff skin
4089	SMAD4	HP:0001511	Intrauterine growth retardation
4089	SMAD4	HP:0001510	Growth delay
4089	SMAD4	HP:0001513	Obesity
4089	SMAD4	HP:0012385	Camptodactyly
4089	SMAD4	HP:0011025	Abnormal cardiovascular system physiology
4089	SMAD4	HP:0006574	Hepatic arteriovenous malformation
4089	SMAD4	HP:0005249	Functional intestinal obstruction
4089	SMAD4	HP:0006548	Pulmonary arteriovenous malformation
4089	SMAD4	HP:0005227	Adenomatous colonic polyposis
4089	SMAD4	HP:0001608	Abnormality of the voice
4089	SMAD4	HP:0002948	Vertebral fusion
4089	SMAD4	HP:0002910	Elevated hepatic transaminase
4089	SMAD4	HP:0002900	Hypokalemia
4089	SMAD4	HP:0005162	Abnormal left ventricular function
4089	SMAD4	HP:0000365	Hearing impairment
4089	SMAD4	HP:0012334	Extrahepatic cholestasis
4089	SMAD4	HP:0001698	Pericardial effusion
4089	SMAD4	HP:0000369	Low-set ears
4089	SMAD4	HP:0001671	Abnormal cardiac septum morphology
4089	SMAD4	HP:0001680	Coarctation of aorta
4089	SMAD4	HP:0001677	Coronary artery atherosclerosis
4089	SMAD4	HP:0001650	Aortic valve stenosis
4089	SMAD4	HP:0001647	Bicuspid aortic valve
4089	SMAD4	HP:0000316	Hypertelorism
4089	SMAD4	HP:0001643	Patent ductus arteriosus
4089	SMAD4	HP:0000327	Hypoplasia of the maxilla
4089	SMAD4	HP:0001659	Aortic regurgitation
4089	SMAD4	HP:0000322	Short philtrum
4089	SMAD4	HP:0001653	Mitral regurgitation
4089	SMAD4	HP:0001629	Ventricular septal defect
4089	SMAD4	HP:0001640	Cardiomegaly
4089	SMAD4	HP:0001635	Congestive heart failure
4089	SMAD4	HP:0001631	Atrial septal defect
4089	SMAD4	HP:0000303	Mandibular prognathia
4089	SMAD4	HP:0001634	Mitral valve prolapse
4089	SMAD4	HP:0012499	Descending aortic dissection
4089	SMAD4	HP:0001738	Exocrine pancreatic insufficiency
4089	SMAD4	HP:0000486	Strabismus
4089	SMAD4	HP:0000490	Deeply set eye
4089	SMAD4	HP:0000470	Short neck
4089	SMAD4	HP:0011106	Hypovolemia
4089	SMAD4	HP:0030256	Small intestinal polyposis
4089	SMAD4	HP:0012432	Chronic fatigue
4089	SMAD4	HP:0001763	Pes planus
4089	SMAD4	HP:0000426	Prominent nasal bridge
4089	SMAD4	HP:0000421	Epistaxis
4089	SMAD4	HP:0006753	Neoplasm of the stomach
4089	SMAD4	HP:0006725	Pancreatic adenocarcinoma
4089	SMAD4	HP:0006771	Duodenal adenocarcinoma
4089	SMAD4	HP:0000518	Cataract
4089	SMAD4	HP:0001845	Overlapping toe
4089	SMAD4	HP:0000525	Abnormality iris morphology
4089	SMAD4	HP:0000524	Conjunctival telangiectasia
4089	SMAD4	HP:0001824	Weight loss
4089	SMAD4	HP:0000508	Ptosis
4089	SMAD4	HP:0001831	Short toe
4089	SMAD4	HP:0000581	Blepharophimosis
4089	SMAD4	HP:0001892	Abnormal bleeding
4089	SMAD4	HP:0000574	Thick eyebrow
4089	SMAD4	HP:0000568	Microphthalmia
4089	SMAD4	HP:0000540	Hypermetropia
4091	SMAD6	HP:0001363	Craniosynostosis
4091	SMAD6	HP:0000006	Autosomal dominant inheritance
4091	SMAD6	HP:0003577	Congenital onset
4091	SMAD6	HP:0004963	Calcification of the aorta
4091	SMAD6	HP:0004962	Thoracic aorta calcification
4091	SMAD6	HP:0004933	Ascending aortic dissection
4091	SMAD6	HP:0004942	Aortic aneurysm
4091	SMAD6	HP:0004383	Hypoplastic left heart
4091	SMAD6	HP:0004380	Aortic valve calcification
4091	SMAD6	HP:0000750	Delayed speech and language development
4091	SMAD6	HP:0012758	Neurodevelopmental delay
4091	SMAD6	HP:0000822	Hypertension
4091	SMAD6	HP:4000158	Typified by high penetrance
4091	SMAD6	HP:0005113	Aortic arch aneurysm
4091	SMAD6	HP:0006394	Limited pronation/supination of forearm
4091	SMAD6	HP:0001680	Coarctation of aorta
4091	SMAD6	HP:0001650	Aortic valve stenosis
4091	SMAD6	HP:0001647	Bicuspid aortic valve
4091	SMAD6	HP:0001642	Pulmonic stenosis
4091	SMAD6	HP:0002974	Radioulnar synostosis
4091	SMAD6	HP:0030148	Heart murmur
4091	SMAD6	HP:0001659	Aortic regurgitation
4091	SMAD6	HP:0001653	Mitral regurgitation
4091	SMAD6	HP:0001655	Patent foramen ovale
4091	SMAD6	HP:0006687	Aortic tortuosity
4091	SMAD6	HP:0011103	Abnormal left ventricular outflow tract morphology
4092	SMAD7	HP:0003003	Colon cancer
4093	SMAD9	HP:0003829	Typified by incomplete penetrance
4093	SMAD9	HP:0000006	Autosomal dominant inheritance
4093	SMAD9	HP:0002092	Pulmonary arterial hypertension
4093	SMAD9	HP:0003676	Progressive
4093	SMAD9	HP:0003621	Juvenile onset
4093	SMAD9	HP:0005317	Increased pulmonary vascular resistance
4093	SMAD9	HP:0031687	Abnormally loud pulmonic component of the second heart sound
4094	MAF	HP:0001182	Tapered finger
4094	MAF	HP:0001156	Brachydactyly
4094	MAF	HP:0001131	Corneal dystrophy
4094	MAF	HP:0001104	Macular hypoplasia
4094	MAF	HP:0008551	Microtia
4094	MAF	HP:0001250	Seizure
4094	MAF	HP:0001249	Intellectual disability
4094	MAF	HP:0001263	Global developmental delay
4094	MAF	HP:0000093	Proteinuria
4094	MAF	HP:0001376	Limitation of joint mobility
4094	MAF	HP:0000023	Inguinal hernia
4094	MAF	HP:0002680	J-shaped sella turcica
4094	MAF	HP:0001363	Craniosynostosis
4094	MAF	HP:0001357	Plagiocephaly
4094	MAF	HP:0000028	Cryptorchidism
4094	MAF	HP:0008897	Postnatal growth retardation
4094	MAF	HP:0000006	Autosomal dominant inheritance
4094	MAF	HP:0002650	Scoliosis
4094	MAF	HP:0000164	Abnormality of the dentition
4094	MAF	HP:0000160	Narrow mouth
4094	MAF	HP:0001488	Bilateral ptosis
4094	MAF	HP:0000175	Cleft palate
4094	MAF	HP:0008947	Infantile muscular hypotonia
4094	MAF	HP:0011800	Midface retrusion
4094	MAF	HP:0002079	Hypoplasia of the corpus callosum
4094	MAF	HP:0002059	Cerebral atrophy
4094	MAF	HP:0002120	Cerebral cortical atrophy
4094	MAF	HP:0002119	Ventriculomegaly
4094	MAF	HP:0003577	Congenital onset
4094	MAF	HP:0002209	Sparse scalp hair
4094	MAF	HP:0008404	Nail dystrophy
4094	MAF	HP:0007099	Chiari type I malformation
4094	MAF	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
4094	MAF	HP:0002353	EEG abnormality
4094	MAF	HP:0003621	Juvenile onset
4094	MAF	HP:0004209	Clinodactyly of the 5th finger
4094	MAF	HP:0000639	Nystagmus
4094	MAF	HP:0000612	Iris coloboma
4094	MAF	HP:0011333	Asymmetric crying face
4094	MAF	HP:0000677	Oligodontia
4094	MAF	HP:0000659	Peters anomaly
4094	MAF	HP:0004322	Short stature
4094	MAF	HP:0030680	Abnormality of cardiovascular system morphology
4094	MAF	HP:0000767	Pectus excavatum
4094	MAF	HP:0000765	Abnormal thorax morphology
4094	MAF	HP:0012770	Reduced arm span
4094	MAF	HP:0000776	Congenital diaphragmatic hernia
4094	MAF	HP:0003196	Short nose
4094	MAF	HP:0003187	Breast hypoplasia
4094	MAF	HP:0004484	Craniofacial asymmetry
4094	MAF	HP:0005815	Supernumerary ribs
4094	MAF	HP:0000289	Broad philtrum
4094	MAF	HP:0000270	Delayed cranial suture closure
4094	MAF	HP:0000272	Malar flattening
4094	MAF	HP:0007780	Cortical pulverulent cataract
4094	MAF	HP:0000239	Large fontanelles
4094	MAF	HP:0000238	Hydrocephalus
4094	MAF	HP:0000248	Brachycephaly
4094	MAF	HP:0000219	Thin upper lip vermilion
4094	MAF	HP:0012385	Camptodactyly
4094	MAF	HP:0012368	Flat face
4094	MAF	HP:0000365	Hearing impairment
4094	MAF	HP:0000358	Posteriorly rotated ears
4094	MAF	HP:0011003	High myopia
4094	MAF	HP:0001698	Pericardial effusion
4094	MAF	HP:0000369	Low-set ears
4094	MAF	HP:0000343	Long philtrum
4094	MAF	HP:0000348	High forehead
4094	MAF	HP:0000319	Smooth philtrum
4094	MAF	HP:0000316	Hypertelorism
4094	MAF	HP:0001643	Patent ductus arteriosus
4094	MAF	HP:0002974	Radioulnar synostosis
4094	MAF	HP:0000303	Mandibular prognathia
4094	MAF	HP:0007957	Corneal opacity
4094	MAF	HP:0007976	Cerulean cataract
4094	MAF	HP:0000407	Sensorineural hearing impairment
4094	MAF	HP:0000402	Stenosis of the external auditory canal
4094	MAF	HP:0001701	Pericarditis
4094	MAF	HP:0005280	Depressed nasal bridge
4094	MAF	HP:0000485	Megalocornea
4094	MAF	HP:0000482	Microcornea
4094	MAF	HP:0000494	Downslanted palpebral fissures
4094	MAF	HP:0000431	Wide nasal bridge
4094	MAF	HP:0005487	Prominent metopic ridge
4094	MAF	HP:0000518	Cataract
4094	MAF	HP:0000519	Developmental cataract
4094	MAF	HP:0000527	Long eyelashes
4094	MAF	HP:0001838	Rocker bottom foot
4094	MAF	HP:0000508	Ptosis
4094	MAF	HP:0000505	Visual impairment
4094	MAF	HP:0000501	Glaucoma
4094	MAF	HP:0000582	Upslanted palpebral fissure
4094	MAF	HP:0011229	Broad eyebrow
4094	MAF	HP:0000586	Shallow orbits
4094	MAF	HP:0000541	Retinal detachment
4094	MAF	HP:0000545	Myopia
4099	MAG	HP:0002495	Impaired vibratory sensation
4099	MAG	HP:0002464	Spastic dysarthria
4099	MAG	HP:0007256	Abnormal pyramidal sign
4099	MAG	HP:0001290	Generalized hypotonia
4099	MAG	HP:0001272	Cerebellar atrophy
4099	MAG	HP:0001252	Hypotonia
4099	MAG	HP:0001249	Intellectual disability
4099	MAG	HP:0001265	Hyporeflexia
4099	MAG	HP:0001260	Dysarthria
4099	MAG	HP:0001263	Global developmental delay
4099	MAG	HP:0001258	Spastic paraplegia
4099	MAG	HP:0001257	Spasticity
4099	MAG	HP:0007371	Corpus callosum atrophy
4099	MAG	HP:0002522	Areflexia of lower limbs
4099	MAG	HP:0002505	Loss of ambulation
4099	MAG	HP:0001347	Hyperreflexia
4099	MAG	HP:0000007	Autosomal recessive inheritance
4099	MAG	HP:0001310	Dysmetria
4099	MAG	HP:0001319	Neonatal hypotonia
4099	MAG	HP:0002600	Hyporeflexia of lower limbs
4099	MAG	HP:0007663	Reduced visual acuity
4099	MAG	HP:0008944	Distal lower limb amyotrophy
4099	MAG	HP:0100543	Cognitive impairment
4099	MAG	HP:0002064	Spastic gait
4099	MAG	HP:0003487	Babinski sign
4099	MAG	HP:0002119	Ventriculomegaly
4099	MAG	HP:0003677	Slowly progressive
4099	MAG	HP:0002313	Spastic paraparesis
4099	MAG	HP:0009830	Peripheral neuropathy
4099	MAG	HP:0003623	Neonatal onset
4099	MAG	HP:0006886	Impaired distal vibration sensation
4099	MAG	HP:0000639	Nystagmus
4099	MAG	HP:0000648	Optic atrophy
4099	MAG	HP:0011463	Childhood onset
4099	MAG	HP:0030187	Titubation
4099	MAG	HP:0000483	Astigmatism
4099	MAG	HP:0000501	Glaucoma
4099	MAG	HP:0000540	Hypermetropia
4099	MAG	HP:0012511	Temporal optic disc pallor
4117	MAK	HP:0001123	Visual field defect
4117	MAK	HP:0001249	Intellectual disability
4117	MAK	HP:0008736	Hypoplasia of penis
4117	MAK	HP:0001347	Hyperreflexia
4117	MAK	HP:0000035	Abnormal testis morphology
4117	MAK	HP:0000007	Autosomal recessive inheritance
4117	MAK	HP:0000135	Hypogonadism
4117	MAK	HP:0007675	Progressive night blindness
4117	MAK	HP:0007663	Reduced visual acuity
4117	MAK	HP:0005978	Type II diabetes mellitus
4117	MAK	HP:0003596	Middle age onset
4117	MAK	HP:0000639	Nystagmus
4117	MAK	HP:0000648	Optic atrophy
4117	MAK	HP:0000618	Blindness
4117	MAK	HP:0000613	Photophobia
4117	MAK	HP:0000602	Ophthalmoplegia
4117	MAK	HP:0000662	Nyctalopia
4117	MAK	HP:0011462	Young adult onset
4117	MAK	HP:0011504	Bull's eye maculopathy
4117	MAK	HP:0000842	Hyperinsulinemia
4117	MAK	HP:0000987	Atypical scarring of skin
4117	MAK	HP:0008046	Abnormal retinal vascular morphology
4117	MAK	HP:0007703	Abnormality of retinal pigmentation
4117	MAK	HP:0007737	Bone spicule pigmentation of the retina
4117	MAK	HP:0001513	Obesity
4117	MAK	HP:0007843	Attenuation of retinal blood vessels
4117	MAK	HP:0000407	Sensorineural hearing impairment
4117	MAK	HP:0000405	Conductive hearing impairment
4117	MAK	HP:0000463	Anteverted nares
4117	MAK	HP:0000431	Wide nasal bridge
4117	MAK	HP:0000518	Cataract
4117	MAK	HP:0000510	Rod-cone dystrophy
4117	MAK	HP:0000512	Abnormal electroretinogram
4117	MAK	HP:0000505	Visual impairment
4117	MAK	HP:0000501	Glaucoma
4117	MAK	HP:0000563	Keratoconus
4117	MAK	HP:0000543	Optic disc pallor
4123	MAN2C1	HP:0002444	Hypothalamic hamartoma
4123	MAN2C1	HP:0008551	Microtia
4123	MAN2C1	HP:0001270	Motor delay
4123	MAN2C1	HP:0001252	Hypotonia
4123	MAN2C1	HP:0001249	Intellectual disability
4123	MAN2C1	HP:0002553	Highly arched eyebrow
4123	MAN2C1	HP:0032327	Interhemispheric cyst
4123	MAN2C1	HP:0033725	Thin corpus callosum
4123	MAN2C1	HP:0001338	Partial agenesis of the corpus callosum
4123	MAN2C1	HP:0000007	Autosomal recessive inheritance
4123	MAN2C1	HP:0001320	Cerebellar vermis hypoplasia
4123	MAN2C1	HP:0000158	Macroglossia
4123	MAN2C1	HP:0002000	Short columella
4123	MAN2C1	HP:0002015	Dysphagia
4123	MAN2C1	HP:0011802	Hamartoma of tongue
4123	MAN2C1	HP:0009487	Ulnar deviation of the hand
4123	MAN2C1	HP:0002119	Ventriculomegaly
4123	MAN2C1	HP:0002126	Polymicrogyria
4123	MAN2C1	HP:0002282	Gray matter heterotopia
4123	MAN2C1	HP:0011304	Broad thumb
4123	MAN2C1	HP:0000735	Impaired social interactions
4123	MAN2C1	HP:0000750	Delayed speech and language development
4123	MAN2C1	HP:0000960	Sacral dimple
4123	MAN2C1	HP:0000256	Macrocephaly
4123	MAN2C1	HP:0002816	Genu recurvatum
4123	MAN2C1	HP:0000218	High palate
4123	MAN2C1	HP:0000365	Hearing impairment
4123	MAN2C1	HP:0000348	High forehead
4123	MAN2C1	HP:0000347	Micrognathia
4123	MAN2C1	HP:0000316	Hypertelorism
4123	MAN2C1	HP:0000324	Facial asymmetry
4123	MAN2C1	HP:0000480	Retinal coloboma
4123	MAN2C1	HP:0001776	Bilateral talipes equinovarus
4123	MAN2C1	HP:0001852	Sandal gap
4123	MAN2C1	HP:0011265	Cleft earlobe
4125	MAN2B1	HP:0007256	Abnormal pyramidal sign
4125	MAN2B1	HP:0010885	Avascular necrosis
4125	MAN2B1	HP:0007232	Spinocerebellar tract disease in lower limbs
4125	MAN2B1	HP:0001290	Generalized hypotonia
4125	MAN2B1	HP:0001272	Cerebellar atrophy
4125	MAN2B1	HP:0001270	Motor delay
4125	MAN2B1	HP:0001289	Confusion
4125	MAN2B1	HP:0001256	Intellectual disability, mild
4125	MAN2B1	HP:0001252	Hypotonia
4125	MAN2B1	HP:0001251	Ataxia
4125	MAN2B1	HP:0001249	Intellectual disability
4125	MAN2B1	HP:0001260	Dysarthria
4125	MAN2B1	HP:0001263	Global developmental delay
4125	MAN2B1	HP:0001258	Spastic paraplegia
4125	MAN2B1	HP:0001257	Spasticity
4125	MAN2B1	HP:0007371	Corpus callosum atrophy
4125	MAN2B1	HP:0002553	Highly arched eyebrow
4125	MAN2B1	HP:0001388	Joint laxity
4125	MAN2B1	HP:0001387	Joint stiffness
4125	MAN2B1	HP:0000023	Inguinal hernia
4125	MAN2B1	HP:0002684	Thickened calvaria
4125	MAN2B1	HP:0002679	Abnormal sella turcica morphology
4125	MAN2B1	HP:0001347	Hyperreflexia
4125	MAN2B1	HP:0001363	Craniosynostosis
4125	MAN2B1	HP:0008821	Hypoplastic inferior ilia
4125	MAN2B1	HP:0001328	Specific learning disability
4125	MAN2B1	HP:0000010	Recurrent urinary tract infections
4125	MAN2B1	HP:0000007	Autosomal recessive inheritance
4125	MAN2B1	HP:0001334	Communicating hydrocephalus
4125	MAN2B1	HP:0031123	Recurrent gastroenteritis
4125	MAN2B1	HP:0012157	Subcortical cerebral atrophy
4125	MAN2B1	HP:0000158	Macroglossia
4125	MAN2B1	HP:0002797	Osteolysis
4125	MAN2B1	HP:0025406	Asthenia
4125	MAN2B1	HP:0001433	Hepatosplenomegaly
4125	MAN2B1	HP:0002719	Recurrent infections
4125	MAN2B1	HP:0002718	Recurrent bacterial infections
4125	MAN2B1	HP:0002721	Immunodeficiency
4125	MAN2B1	HP:0004684	Talipes valgus
4125	MAN2B1	HP:0002007	Frontal bossing
4125	MAN2B1	HP:0003302	Spondylolisthesis
4125	MAN2B1	HP:0011800	Midface retrusion
4125	MAN2B1	HP:0002090	Pneumonia
4125	MAN2B1	HP:0002066	Gait ataxia
4125	MAN2B1	HP:0002070	Limb ataxia
4125	MAN2B1	HP:0010471	Oligosacchariduria
4125	MAN2B1	HP:0003487	Babinski sign
4125	MAN2B1	HP:0002120	Cerebral cortical atrophy
4125	MAN2B1	HP:0002171	Gliosis
4125	MAN2B1	HP:0011842	Abnormal skeletal morphology
4125	MAN2B1	HP:0002240	Hepatomegaly
4125	MAN2B1	HP:0002280	Enlarged cisterna magna
4125	MAN2B1	HP:0010665	Bilateral coxa valga
4125	MAN2B1	HP:0430022	Abnormality of the sphenoid sinus
4125	MAN2B1	HP:0002371	Loss of speech
4125	MAN2B1	HP:0002329	Drowsiness
4125	MAN2B1	HP:0002312	Clumsiness
4125	MAN2B1	HP:0002308	Chiari malformation
4125	MAN2B1	HP:0000639	Nystagmus
4125	MAN2B1	HP:0001922	Vacuolated lymphocytes
4125	MAN2B1	HP:0009062	Infantile axial hypotonia
4125	MAN2B1	HP:0011334	Facial shape deformation
4125	MAN2B1	HP:0000687	Widely spaced teeth
4125	MAN2B1	HP:0004313	Decreased circulating antibody level
4125	MAN2B1	HP:0005619	Thoracolumbar kyphosis
4125	MAN2B1	HP:0000767	Pectus excavatum
4125	MAN2B1	HP:0000768	Pectus carinatum
4125	MAN2B1	HP:0000738	Hallucinations
4125	MAN2B1	HP:0000739	Anxiety
4125	MAN2B1	HP:0000736	Short attention span
4125	MAN2B1	HP:0000750	Delayed speech and language development
4125	MAN2B1	HP:0000746	Delusions
4125	MAN2B1	HP:0000716	Depression
4125	MAN2B1	HP:0000708	Atypical behavior
4125	MAN2B1	HP:0004437	Cranial hyperostosis
4125	MAN2B1	HP:0003198	Myopathy
4125	MAN2B1	HP:0000926	Platyspondyly
4125	MAN2B1	HP:0000900	Thickened ribs
4125	MAN2B1	HP:0005791	Cortical thickening of long bone diaphyses
4125	MAN2B1	HP:0004570	Increased vertebral height
4125	MAN2B1	HP:0000998	Hypertrichosis
4125	MAN2B1	HP:0000977	Soft skin
4125	MAN2B1	HP:0000938	Osteopenia
4125	MAN2B1	HP:0000943	Dysostosis multiplex
4125	MAN2B1	HP:0000286	Epicanthus
4125	MAN2B1	HP:0000280	Coarse facial features
4125	MAN2B1	HP:0000297	Facial hypotonia
4125	MAN2B1	HP:0000294	Low anterior hairline
4125	MAN2B1	HP:0000256	Macrocephaly
4125	MAN2B1	HP:0000272	Malar flattening
4125	MAN2B1	HP:0007772	Impaired smooth pursuit
4125	MAN2B1	HP:0000248	Brachycephaly
4125	MAN2B1	HP:0001547	Abnormal rib cage morphology
4125	MAN2B1	HP:0000212	Gingival overgrowth
4125	MAN2B1	HP:0002857	Genu valgum
4125	MAN2B1	HP:0001537	Umbilical hernia
4125	MAN2B1	HP:0001519	Disproportionate tall stature
4125	MAN2B1	HP:0001510	Growth delay
4125	MAN2B1	HP:0012379	Abnormal circulating enzyme concentration or activity
4125	MAN2B1	HP:0012368	Flat face
4125	MAN2B1	HP:0000388	Otitis media
4125	MAN2B1	HP:0000337	Broad forehead
4125	MAN2B1	HP:0002980	Femoral bowing
4125	MAN2B1	HP:0000316	Hypertelorism
4125	MAN2B1	HP:0001659	Aortic regurgitation
4125	MAN2B1	HP:0001653	Mitral regurgitation
4125	MAN2B1	HP:0000303	Mandibular prognathia
4125	MAN2B1	HP:0007957	Corneal opacity
4125	MAN2B1	HP:0000407	Sensorineural hearing impairment
4125	MAN2B1	HP:0000400	Macrotia
4125	MAN2B1	HP:0005280	Depressed nasal bridge
4125	MAN2B1	HP:0000483	Astigmatism
4125	MAN2B1	HP:0000486	Strabismus
4125	MAN2B1	HP:0012448	Delayed myelination
4125	MAN2B1	HP:0000457	Depressed nasal ridge
4125	MAN2B1	HP:0000470	Short neck
4125	MAN2B1	HP:0001776	Bilateral talipes equinovarus
4125	MAN2B1	HP:0000410	Mixed hearing impairment
4125	MAN2B1	HP:0001744	Splenomegaly
4125	MAN2B1	HP:0005469	Flat occiput
4125	MAN2B1	HP:0000518	Cataract
4125	MAN2B1	HP:0000520	Proptosis
4125	MAN2B1	HP:0011220	Prominent forehead
4125	MAN2B1	HP:0000574	Thick eyebrow
4125	MAN2B1	HP:0000540	Hypermetropia
4125	MAN2B1	HP:0000546	Retinal degeneration
4125	MAN2B1	HP:0000543	Optic disc pallor
4125	MAN2B1	HP:0001876	Pancytopenia
4125	MAN2B1	HP:0000545	Myopia
4126	MANBA	HP:0001290	Generalized hypotonia
4126	MANBA	HP:0001250	Seizure
4126	MANBA	HP:0001252	Hypotonia
4126	MANBA	HP:0001249	Intellectual disability
4126	MANBA	HP:0012066	Increased urinary disaccharide excretion
4126	MANBA	HP:0000007	Autosomal recessive inheritance
4126	MANBA	HP:0002719	Recurrent infections
4126	MANBA	HP:0003593	Infantile onset
4126	MANBA	HP:0002205	Recurrent respiratory infections
4126	MANBA	HP:0001014	Angiokeratoma
4126	MANBA	HP:0007108	Demyelinating peripheral neuropathy
4126	MANBA	HP:0001999	Abnormal facial shape
4126	MANBA	HP:0000752	Hyperactivity
4126	MANBA	HP:0000718	Aggressive behavior
4126	MANBA	HP:0034367	Decreased beta-mannosidase activity
4126	MANBA	HP:0005247	Hypoplasia of the abdominal wall musculature
4126	MANBA	HP:0000365	Hearing impairment
4126	MANBA	HP:0000503	Tortuosity of conjunctival vessels
4128	MAOA	HP:0001270	Motor delay
4128	MAOA	HP:0001249	Intellectual disability
4128	MAOA	HP:0031284	Flushing
4128	MAOA	HP:0001419	X-linked recessive inheritance
4128	MAOA	HP:0002014	Diarrhea
4128	MAOA	HP:0100543	Cognitive impairment
4128	MAOA	HP:0100710	Impulsivity
4128	MAOA	HP:0100716	Self-injurious behavior
4128	MAOA	HP:0002315	Headache
4128	MAOA	HP:0000744	Low frustration tolerance
4128	MAOA	HP:0000718	Aggressive behavior
4128	MAOA	HP:0000717	Autism
4128	MAOA	HP:0000708	Atypical behavior
4128	MAOA	HP:0030186	Kinetic tremor
4131	MAP1B	HP:0001182	Tapered finger
4131	MAP1B	HP:0002442	Dyscalculia
4131	MAP1B	HP:0008619	Bilateral sensorineural hearing impairment
4131	MAP1B	HP:0008551	Microtia
4131	MAP1B	HP:0001249	Intellectual disability
4131	MAP1B	HP:0001263	Global developmental delay
4131	MAP1B	HP:0032388	Periventricular nodular heterotopia
4131	MAP1B	HP:0007359	Focal-onset seizure
4131	MAP1B	HP:0001212	Prominent fingertip pads
4131	MAP1B	HP:0003834	Shoulder dislocation
4131	MAP1B	HP:0001382	Joint hypermobility
4131	MAP1B	HP:0000006	Autosomal dominant inheritance
4131	MAP1B	HP:0002650	Scoliosis
4131	MAP1B	HP:0002021	Pyloric stenosis
4131	MAP1B	HP:0002020	Gastroesophageal reflux
4131	MAP1B	HP:0002079	Hypoplasia of the corpus callosum
4131	MAP1B	HP:0002136	Broad-based gait
4131	MAP1B	HP:0002126	Polymicrogyria
4131	MAP1B	HP:0010522	Dyslexia
4131	MAP1B	HP:0003596	Middle age onset
4131	MAP1B	HP:0100790	Hernia
4131	MAP1B	HP:0002282	Gray matter heterotopia
4131	MAP1B	HP:0007018	Attention deficit hyperactivity disorder
4131	MAP1B	HP:0001007	Hirsutism
4131	MAP1B	HP:0010803	Everted upper lip vermilion
4131	MAP1B	HP:0007165	Periventricular heterotopia
4131	MAP1B	HP:0003621	Juvenile onset
4131	MAP1B	HP:0004942	Aortic aneurysm
4131	MAP1B	HP:0004209	Clinodactyly of the 5th finger
4131	MAP1B	HP:0011342	Mild global developmental delay
4131	MAP1B	HP:0012639	Abnormal nervous system morphology
4131	MAP1B	HP:0000664	Synophrys
4131	MAP1B	HP:0000750	Delayed speech and language development
4131	MAP1B	HP:0000729	Autistic behavior
4131	MAP1B	HP:0011462	Young adult onset
4131	MAP1B	HP:0000954	Single transverse palmar crease
4131	MAP1B	HP:0000963	Thin skin
4131	MAP1B	HP:0000286	Epicanthus
4131	MAP1B	HP:0030084	Clinodactyly
4131	MAP1B	HP:0000252	Microcephaly
4131	MAP1B	HP:0000218	High palate
4131	MAP1B	HP:0000212	Gingival overgrowth
4131	MAP1B	HP:0030026	Squared superior portion of helix
4131	MAP1B	HP:0000358	Posteriorly rotated ears
4131	MAP1B	HP:0002999	Patellar dislocation
4131	MAP1B	HP:0001643	Patent ductus arteriosus
4131	MAP1B	HP:0001659	Aortic regurgitation
4131	MAP1B	HP:0001654	Abnormal heart valve morphology
4131	MAP1B	HP:0011182	Interictal epileptiform activity
4131	MAP1B	HP:0005326	Hypoplastic philtrum
4131	MAP1B	HP:0001761	Pes cavus
4131	MAP1B	HP:0005487	Prominent metopic ridge
4131	MAP1B	HP:0001892	Abnormal bleeding
4137	MAPT	HP:0001188	Hand clenching
4137	MAPT	HP:0002493	Upper motor neuron dysfunction
4137	MAPT	HP:0002465	Poor speech
4137	MAPT	HP:0002463	Language impairment
4137	MAPT	HP:0002464	Spastic dysarthria
4137	MAPT	HP:0002476	Primitive reflex
4137	MAPT	HP:0002442	Dyscalculia
4137	MAPT	HP:0002439	Frontolimbic dementia
4137	MAPT	HP:0002451	Limb dystonia
4137	MAPT	HP:0002446	Astrocytosis
4137	MAPT	HP:0007311	Short stepped shuffling gait
4137	MAPT	HP:0007256	Abnormal pyramidal sign
4137	MAPT	HP:0003745	Sporadic
4137	MAPT	HP:0002427	Expressive aphasia
4137	MAPT	HP:0001297	Stroke
4137	MAPT	HP:0025268	Stuttering
4137	MAPT	HP:0001268	Mental deterioration
4137	MAPT	HP:0001288	Gait disturbance
4137	MAPT	HP:0001260	Dysarthria
4137	MAPT	HP:0002591	Polyphagia
4137	MAPT	HP:0008768	Inappropriate sexual behavior
4137	MAPT	HP:0007354	Amyotrophic lateral sclerosis
4137	MAPT	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
4137	MAPT	HP:0002549	Deficit in phonologic short-term memory
4137	MAPT	HP:0002544	Retrocollis
4137	MAPT	HP:0002530	Axial dystonia
4137	MAPT	HP:0002528	Granulovacuolar degeneration
4137	MAPT	HP:0002529	Neuronal loss in central nervous system
4137	MAPT	HP:0002527	Falls
4137	MAPT	HP:0002505	Loss of ambulation
4137	MAPT	HP:0002500	Abnormal cerebral white matter morphology
4137	MAPT	HP:0001347	Hyperreflexia
4137	MAPT	HP:0001332	Dystonia
4137	MAPT	HP:0000012	Urinary urgency
4137	MAPT	HP:0000007	Autosomal recessive inheritance
4137	MAPT	HP:0001337	Tremor
4137	MAPT	HP:0000006	Autosomal dominant inheritance
4137	MAPT	HP:0001300	Parkinsonism
4137	MAPT	HP:0002751	Kyphoscoliosis
4137	MAPT	HP:0002019	Constipation
4137	MAPT	HP:0002015	Dysphagia
4137	MAPT	HP:0002098	Respiratory distress
4137	MAPT	HP:0002069	Bilateral tonic-clonic seizure
4137	MAPT	HP:0002067	Bradykinesia
4137	MAPT	HP:0002068	Neuromuscular dysphagia
4137	MAPT	HP:0002063	Rigidity
4137	MAPT	HP:0002062	Morphological abnormality of the pyramidal tract
4137	MAPT	HP:0002071	Abnormality of extrapyramidal motor function
4137	MAPT	HP:0030953	Conjunctival hyperemia
4137	MAPT	HP:0002059	Cerebral atrophy
4137	MAPT	HP:0002145	Frontotemporal dementia
4137	MAPT	HP:0003474	Somatic sensory dysfunction
4137	MAPT	HP:0002141	Gait imbalance
4137	MAPT	HP:0002186	Apraxia
4137	MAPT	HP:0002185	Neurofibrillary tangles
4137	MAPT	HP:0002167	Abnormality of speech or vocalization
4137	MAPT	HP:0002171	Gliosis
4137	MAPT	HP:0002172	Postural instability
4137	MAPT	HP:0010529	Echolalia
4137	MAPT	HP:0010522	Dyslexia
4137	MAPT	HP:0010526	Dysgraphia
4137	MAPT	HP:0010523	Alexia
4137	MAPT	HP:0003596	Middle age onset
4137	MAPT	HP:0003587	Insidious onset
4137	MAPT	HP:0003584	Late onset
4137	MAPT	HP:0003581	Adult onset
4137	MAPT	HP:0100710	Impulsivity
4137	MAPT	HP:0200147	Neuronal loss in basal ganglia
4137	MAPT	HP:0011960	Substantia nigra gliosis
4137	MAPT	HP:0007086	Social and occupational deterioration
4137	MAPT	HP:0002380	Fasciculations
4137	MAPT	HP:0002381	Aphasia
4137	MAPT	HP:0002366	Abnormal lower motor neuron morphology
4137	MAPT	HP:0002360	Sleep disturbance
4137	MAPT	HP:0002359	Frequent falls
4137	MAPT	HP:0002374	Diminished movement
4137	MAPT	HP:0002371	Loss of speech
4137	MAPT	HP:0003676	Progressive
4137	MAPT	HP:0002354	Memory impairment
4137	MAPT	HP:0002322	Resting tremor
4137	MAPT	HP:0002317	Unsteady gait
4137	MAPT	HP:0007164	Slowed slurred speech
4137	MAPT	HP:0010794	Impaired visuospatial constructive cognition
4137	MAPT	HP:0007158	Progressive extrapyramidal muscular rigidity
4137	MAPT	HP:0007112	Temporal cortical atrophy
4137	MAPT	HP:0002300	Mutism
4137	MAPT	HP:0002312	Clumsiness
4137	MAPT	HP:0002304	Akinesia
4137	MAPT	HP:0031825	Freezing of gait
4137	MAPT	HP:0009088	Speech articulation difficulties
4137	MAPT	HP:0006892	Frontotemporal cerebral atrophy
4137	MAPT	HP:0031814	Palilalia
4137	MAPT	HP:0000633	Decreased lacrimation
4137	MAPT	HP:0000651	Diplopia
4137	MAPT	HP:0000643	Blepharospasm
4137	MAPT	HP:0000613	Photophobia
4137	MAPT	HP:0000622	Blurred vision
4137	MAPT	HP:0000605	Supranuclear gaze palsy
4137	MAPT	HP:0009053	Distal lower limb muscle weakness
4137	MAPT	HP:0012671	Abulia
4137	MAPT	HP:0012658	Abnormal brain FDG positron emission tomography
4137	MAPT	HP:0000657	Oculomotor apraxia
4137	MAPT	HP:0000658	Eyelid apraxia
4137	MAPT	HP:0006977	Deficit in grammar
4137	MAPT	HP:0006961	Jerky head movements
4137	MAPT	HP:0004305	Involuntary movements
4137	MAPT	HP:0030692	Brain neoplasm
4137	MAPT	HP:0006921	Axial muscle stiffness
4137	MAPT	HP:0031908	Micrographia
4137	MAPT	HP:0004373	Focal dystonia
4137	MAPT	HP:0031937	Tachylalia
4137	MAPT	HP:0000757	Lack of insight
4137	MAPT	HP:0000751	Personality changes
4137	MAPT	HP:0000738	Hallucinations
4137	MAPT	HP:0000737	Irritability
4137	MAPT	HP:0000739	Anxiety
4137	MAPT	HP:0000734	Disinhibition
4137	MAPT	HP:0000733	Abnormal repetitive mannerisms
4137	MAPT	HP:0000748	Inappropriate laughter
4137	MAPT	HP:0000745	Diminished motivation
4137	MAPT	HP:0000741	Apathy
4137	MAPT	HP:0000743	Frontal release signs
4137	MAPT	HP:0000719	Inappropriate behavior
4137	MAPT	HP:0000716	Depression
4137	MAPT	HP:0000718	Aggressive behavior
4137	MAPT	HP:0000711	Restlessness
4137	MAPT	HP:0000710	Hyperorality
4137	MAPT	HP:0000727	Frontal lobe dementia
4137	MAPT	HP:0000726	Dementia
4137	MAPT	HP:0000723	Restrictive behavior
4137	MAPT	HP:0000709	Psychosis
4137	MAPT	HP:0000708	Atypical behavior
4137	MAPT	HP:0011462	Young adult onset
4137	MAPT	HP:0030784	Anomic aphasia
4137	MAPT	HP:0100315	Lewy bodies
4137	MAPT	HP:0045084	Limb myoclonus
4137	MAPT	HP:0100256	Senile plaques
4137	MAPT	HP:0000298	Mask-like facies
4137	MAPT	HP:0011098	Speech apraxia
4137	MAPT	HP:0007885	Slowed horizontal saccades
4137	MAPT	HP:0031434	Abnormal prosody
4137	MAPT	HP:0012332	Abnormal autonomic nervous system physiology
4137	MAPT	HP:0001621	Weak voice
4137	MAPT	HP:0005329	Fixed facial expression
4137	MAPT	HP:0030213	Emotional blunting
4137	MAPT	HP:0030212	Collectionism
4137	MAPT	HP:0030217	Limb apraxia
4137	MAPT	HP:0000496	Abnormality of eye movement
4137	MAPT	HP:0030223	Manifestations of perseverative thought or action
4137	MAPT	HP:0030222	Visual agnosia
4137	MAPT	HP:0012444	Brain atrophy
4137	MAPT	HP:0000474	Thickened nuchal skin fold
4137	MAPT	HP:0025710	Late young adult onset
4137	MAPT	HP:0000514	Slow saccadic eye movements
4137	MAPT	HP:0000511	Vertical supranuclear gaze palsy
4137	MAPT	HP:0000597	Ophthalmoparesis
4137	MAPT	HP:0000571	Hypometric saccades
4137	MAPT	HP:0000570	Abnormal saccadic eye movements
4137	MAPT	HP:0011204	EEG with continuous slow activity
4137	MAPT	HP:0030391	Spoken word recognition deficit
4140	MARK3	HP:0000007	Autosomal recessive inheritance
4140	MARK3	HP:0007663	Reduced visual acuity
4140	MARK3	HP:0003577	Congenital onset
4140	MARK3	HP:0000667	Phthisis bulbi
4140	MARK3	HP:0007720	Flat cornea
4140	MARK3	HP:0000508	Ptosis
4140	MARK3	HP:0000540	Hypermetropia
4141	MARS1	HP:0001156	Brachydactyly
4141	MARS1	HP:0002460	Distal muscle weakness
4141	MARS1	HP:0001270	Motor delay
4141	MARS1	HP:0001288	Gait disturbance
4141	MARS1	HP:0001284	Areflexia
4141	MARS1	HP:0001256	Intellectual disability, mild
4141	MARS1	HP:0001252	Hypotonia
4141	MARS1	HP:0001251	Ataxia
4141	MARS1	HP:0001249	Intellectual disability
4141	MARS1	HP:0001263	Global developmental delay
4141	MARS1	HP:0001217	Clubbing
4141	MARS1	HP:0001397	Hepatic steatosis
4141	MARS1	HP:0001396	Cholestasis
4141	MARS1	HP:0001399	Hepatic failure
4141	MARS1	HP:0001395	Hepatic fibrosis
4141	MARS1	HP:0001394	Cirrhosis
4141	MARS1	HP:0001388	Joint laxity
4141	MARS1	HP:0000007	Autosomal recessive inheritance
4141	MARS1	HP:0000006	Autosomal dominant inheritance
4141	MARS1	HP:0001315	Reduced tendon reflexes
4141	MARS1	HP:0002705	High, narrow palate
4141	MARS1	HP:0000100	Nephrotic syndrome
4141	MARS1	HP:0003355	Aminoaciduria
4141	MARS1	HP:0002013	Vomiting
4141	MARS1	HP:0002094	Dyspnea
4141	MARS1	HP:0002093	Respiratory insufficiency
4141	MARS1	HP:0002061	Lower limb spasticity
4141	MARS1	HP:0030948	Elevated gamma-glutamyltransferase level
4141	MARS1	HP:0003376	Steppage gait
4141	MARS1	HP:0003477	Peripheral axonal neuropathy
4141	MARS1	HP:0003596	Middle age onset
4141	MARS1	HP:0003593	Infantile onset
4141	MARS1	HP:0002240	Hepatomegaly
4141	MARS1	HP:0003584	Late onset
4141	MARS1	HP:0002206	Pulmonary fibrosis
4141	MARS1	HP:0008404	Nail dystrophy
4141	MARS1	HP:0007020	Progressive spastic paraplegia
4141	MARS1	HP:0003693	Distal amyotrophy
4141	MARS1	HP:0002378	Hand tremor
4141	MARS1	HP:0003676	Progressive
4141	MARS1	HP:0002355	Difficulty walking
4141	MARS1	HP:0003677	Slowly progressive
4141	MARS1	HP:0009830	Peripheral neuropathy
4141	MARS1	HP:0032152	Keratosis pilaris
4141	MARS1	HP:0003623	Neonatal onset
4141	MARS1	HP:0001903	Anemia
4141	MARS1	HP:0009027	Foot dorsiflexor weakness
4141	MARS1	HP:0000689	Dental malocclusion
4141	MARS1	HP:0001987	Hyperammonemia
4141	MARS1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
4141	MARS1	HP:0031964	Elevated circulating alanine aminotransferase concentration
4141	MARS1	HP:0012735	Cough
4141	MARS1	HP:0100022	Abnormality of movement
4141	MARS1	HP:0011463	Childhood onset
4141	MARS1	HP:0009130	Hand muscle atrophy
4141	MARS1	HP:0003128	Lactic acidosis
4141	MARS1	HP:0000821	Hypothyroidism
4141	MARS1	HP:0045055	Tiger tail banding
4141	MARS1	HP:0045075	Sparse eyebrow
4141	MARS1	HP:0008070	Sparse hair
4141	MARS1	HP:0008064	Ichthyosis
4141	MARS1	HP:0000286	Epicanthus
4141	MARS1	HP:0001508	Failure to thrive
4141	MARS1	HP:0006530	Abnormal pulmonary interstitial morphology
4141	MARS1	HP:0006517	Intraalveolar phospholipid accumulation
4141	MARS1	HP:0002936	Distal sensory impairment
4141	MARS1	HP:0030237	Hand muscle weakness
4141	MARS1	HP:0012447	Abnormal myelination
4141	MARS1	HP:0012418	Hypoxemia
4141	MARS1	HP:0001894	Thrombocytosis
4143	MAT1A	HP:0007305	CNS demyelination
4143	MAT1A	HP:0100812	Halitosis
4143	MAT1A	HP:0001249	Intellectual disability
4143	MAT1A	HP:0001347	Hyperreflexia
4143	MAT1A	HP:0001332	Dystonia
4143	MAT1A	HP:0000007	Autosomal recessive inheritance
4143	MAT1A	HP:0000006	Autosomal dominant inheritance
4143	MAT1A	HP:0003235	Hypermethioninemia
4143	MAT1A	HP:0011096	Peripheral demyelination
4144	MAT2A	HP:0001166	Arachnodactyly
4144	MAT2A	HP:0001297	Stroke
4144	MAT2A	HP:0000098	Tall stature
4144	MAT2A	HP:0002686	Prenatal maternal abnormality
4144	MAT2A	HP:0000023	Inguinal hernia
4144	MAT2A	HP:0002650	Scoliosis
4144	MAT2A	HP:0002647	Aortic dissection
4144	MAT2A	HP:0002616	Aortic root aneurysm
4144	MAT2A	HP:0012163	Carotid artery dilatation
4144	MAT2A	HP:0002705	High, narrow palate
4144	MAT2A	HP:0002140	Ischemic stroke
4144	MAT2A	HP:0002138	Subarachnoid hemorrhage
4144	MAT2A	HP:0002107	Pneumothorax
4144	MAT2A	HP:0002105	Hemoptysis
4144	MAT2A	HP:0003549	Abnormality of connective tissue
4144	MAT2A	HP:0200146	Mucoid extracellular matrix accumulation
4144	MAT2A	HP:0100775	Dural ectasia
4144	MAT2A	HP:0100749	Chest pain
4144	MAT2A	HP:0002326	Transient ischemic attack
4144	MAT2A	HP:0004959	Descending thoracic aorta aneurysm
4144	MAT2A	HP:0004933	Ascending aortic dissection
4144	MAT2A	HP:0004950	Peripheral arterial stenosis
4144	MAT2A	HP:0004944	Dilatation of the cerebral artery
4144	MAT2A	HP:0000766	Abnormal sternum morphology
4144	MAT2A	HP:0012763	Paroxysmal dyspnea
4144	MAT2A	HP:0000822	Hypertension
4144	MAT2A	HP:0000978	Bruising susceptibility
4144	MAT2A	HP:0000965	Cutis marmorata
4144	MAT2A	HP:0000278	Retrognathia
4144	MAT2A	HP:0005112	Abdominal aortic aneurysm
4144	MAT2A	HP:0002875	Exertional dyspnea
4144	MAT2A	HP:0005162	Abnormal left ventricular function
4144	MAT2A	HP:0001677	Coronary artery atherosclerosis
4144	MAT2A	HP:0001647	Bicuspid aortic valve
4144	MAT2A	HP:0000316	Hypertelorism
4144	MAT2A	HP:0001643	Patent ductus arteriosus
4144	MAT2A	HP:0001659	Aortic regurgitation
4144	MAT2A	HP:0001640	Cardiomegaly
4144	MAT2A	HP:0012499	Descending aortic dissection
4144	MAT2A	HP:0011106	Hypovolemia
4144	MAT2A	HP:0001763	Pes planus
4144	MAT2A	HP:0000525	Abnormality iris morphology
4148	MATN3	HP:0001288	Gait disturbance
4148	MATN3	HP:0100864	Short femoral neck
4148	MATN3	HP:0001216	Delayed ossification of carpal bones
4148	MATN3	HP:0002515	Waddling gait
4148	MATN3	HP:0003839	Abnormality of upper limb epiphysis morphology
4148	MATN3	HP:0008800	Limited hip movement
4148	MATN3	HP:0001377	Limited elbow extension
4148	MATN3	HP:0001385	Hip dysplasia
4148	MATN3	HP:0001387	Joint stiffness
4148	MATN3	HP:0001384	Abnormal hip joint morphology
4148	MATN3	HP:0008873	Disproportionate short-limb short stature
4148	MATN3	HP:0008828	Delayed proximal femoral epiphyseal ossification
4148	MATN3	HP:0008794	Dysplastic iliac wing
4148	MATN3	HP:0002656	Epiphyseal dysplasia
4148	MATN3	HP:0002654	Multiple epiphyseal dysplasia
4148	MATN3	HP:0000007	Autosomal recessive inheritance
4148	MATN3	HP:0000006	Autosomal dominant inheritance
4148	MATN3	HP:0002651	Spondyloepimetaphyseal dysplasia
4148	MATN3	HP:0002758	Osteoarthritis
4148	MATN3	HP:0003365	Arthralgia of the hip
4148	MATN3	HP:0003300	Ovoid vertebral bodies
4148	MATN3	HP:0003375	Narrow greater sciatic notch
4148	MATN3	HP:0008103	Delayed tarsal ossification
4148	MATN3	HP:0003418	Back pain
4148	MATN3	HP:0010585	Small epiphyses
4148	MATN3	HP:0010582	Irregular epiphyses
4148	MATN3	HP:0003593	Infantile onset
4148	MATN3	HP:0003577	Congenital onset
4148	MATN3	HP:0010631	Abnormality of the epiphyses of the feet
4148	MATN3	HP:0003502	Mild short stature
4148	MATN3	HP:0002355	Difficulty walking
4148	MATN3	HP:0009826	Limb undergrowth
4148	MATN3	HP:0008419	Intervertebral disc degeneration
4148	MATN3	HP:0004268	Osteoarthritis of the small joints of the hand
4148	MATN3	HP:0010049	Short metacarpal
4148	MATN3	HP:0004322	Short stature
4148	MATN3	HP:0003088	Premature osteoarthritis
4148	MATN3	HP:0003037	Enlarged joints
4148	MATN3	HP:0003016	Metaphyseal widening
4148	MATN3	HP:0003026	Short long bone
4148	MATN3	HP:0003025	Metaphyseal irregularity
4148	MATN3	HP:0000767	Pectus excavatum
4148	MATN3	HP:0005743	Avascular necrosis of the capital femoral epiphysis
4148	MATN3	HP:0000926	Platyspondyly
4148	MATN3	HP:0000922	Posterior rib cupping
4148	MATN3	HP:0003177	Squared iliac bones
4148	MATN3	HP:0003173	Hypoplastic pubic bone
4148	MATN3	HP:0003170	Abnormal acetabulum morphology
4148	MATN3	HP:0003184	Decreased hip abduction
4148	MATN3	HP:0003180	Flat acetabular roof
4148	MATN3	HP:0003090	Hypoplasia of the capital femoral epiphysis
4148	MATN3	HP:0005877	Multiple small vertebral fractures
4148	MATN3	HP:0030839	Knee pain
4148	MATN3	HP:0030838	Hip pain
4148	MATN3	HP:0030840	Ankle pain
4148	MATN3	HP:0006429	Broad femoral neck
4148	MATN3	HP:0002812	Coxa vara
4148	MATN3	HP:0002829	Arthralgia
4148	MATN3	HP:0005054	Metaphyseal spurs
4148	MATN3	HP:0002857	Genu valgum
4148	MATN3	HP:0012368	Flat face
4148	MATN3	HP:0005257	Thoracic hypoplasia
4148	MATN3	HP:0002938	Lumbar hyperlordosis
4148	MATN3	HP:0012313	Heberden's node
4148	MATN3	HP:0002983	Micromelia
4148	MATN3	HP:0002980	Femoral bowing
4148	MATN3	HP:0002979	Bowing of the legs
4148	MATN3	HP:0002970	Genu varum
4149	MAX	HP:0008629	Pulsatile tinnitus
4149	MAX	HP:0025269	Panic attack
4149	MAX	HP:0001293	Cranial nerve compression
4149	MAX	HP:0002574	Episodic abdominal pain
4149	MAX	HP:0000096	Glomerular sclerosis
4149	MAX	HP:0000093	Proteinuria
4149	MAX	HP:0002664	Neoplasm
4149	MAX	HP:0001342	Cerebral hemorrhage
4149	MAX	HP:0002668	Paraganglioma
4149	MAX	HP:0001337	Tremor
4149	MAX	HP:0000006	Autosomal dominant inheritance
4149	MAX	HP:0002666	Pheochromocytoma
4149	MAX	HP:0002640	Hypertension associated with pheochromocytoma
4149	MAX	HP:0031284	Flushing
4149	MAX	HP:0002018	Nausea
4149	MAX	HP:0003345	Elevated urinary norepinephrine
4149	MAX	HP:0011703	Sinus tachycardia
4149	MAX	HP:0010532	Paroxysmal vertigo
4149	MAX	HP:0003574	Positive regitine blocking test
4149	MAX	HP:0003528	Elevated calcitonin
4149	MAX	HP:0009711	Retinal capillary hemangioma
4149	MAX	HP:0100749	Chest pain
4149	MAX	HP:0011979	Elevated urinary dopamine
4149	MAX	HP:0001069	Episodic hyperhidrosis
4149	MAX	HP:0001028	Hemangioma
4149	MAX	HP:0002331	Recurrent paroxysmal headache
4149	MAX	HP:0001095	Hypertensive retinopathy
4149	MAX	HP:0003639	Elevated urinary epinephrine
4149	MAX	HP:0005584	Renal cell carcinoma
4149	MAX	HP:0001962	Palpitations
4149	MAX	HP:0001920	Renal artery stenosis
4149	MAX	HP:0003072	Hypercalcemia
4149	MAX	HP:0000740	Episodic paroxysmal anxiety
4149	MAX	HP:0000790	Hematuria
4149	MAX	HP:0000875	Episodic hypertension
4149	MAX	HP:0000980	Pallor
4149	MAX	HP:0000975	Hyperhidrosis
4149	MAX	HP:0000957	Cafe-au-lait spot
4149	MAX	HP:0012222	Arachnoid hemangiomatosis
4149	MAX	HP:0002864	Paraganglioma of head and neck
4149	MAX	HP:0012378	Fatigue
4149	MAX	HP:0001605	Vocal cord paralysis
4149	MAX	HP:0001618	Dysphonia
4149	MAX	HP:0001649	Tachycardia
4149	MAX	HP:0001635	Congestive heart failure
4149	MAX	HP:0000405	Conductive hearing impairment
4149	MAX	HP:0006748	Adrenal pheochromocytoma
4149	MAX	HP:0006737	Extraadrenal pheochromocytoma
4149	MAX	HP:0000519	Developmental cataract
4149	MAX	HP:0000526	Aniridia
4149	MAX	HP:0001824	Weight loss
4153	MBL2	HP:0000006	Autosomal dominant inheritance
4153	MBL2	HP:0002742	Recurrent Klebsiella infections
4153	MBL2	HP:0001581	Recurrent skin infections
4153	MBL2	HP:0001508	Failure to thrive
4153	MBL2	HP:0005381	Recurrent meningococcal disease
4153	MBL2	HP:0005353	Recurrent herpes
4153	MBL2	HP:0031699	Disseminated cryptosporidium infection
4157	MC1R	HP:0001100	Heterochromia iridis
4157	MC1R	HP:0003764	Nevus
4157	MC1R	HP:0001250	Seizure
4157	MC1R	HP:0012056	Cutaneous melanoma
4157	MC1R	HP:0007481	Hyperpigmented nevi
4157	MC1R	HP:0002664	Neoplasm
4157	MC1R	HP:0002671	Basal cell carcinoma
4157	MC1R	HP:0000007	Autosomal recessive inheritance
4157	MC1R	HP:0007603	Freckles in sun-exposed areas
4157	MC1R	HP:0001480	Freckling
4157	MC1R	HP:0001482	Subcutaneous nodule
4157	MC1R	HP:0007663	Reduced visual acuity
4157	MC1R	HP:0002071	Abnormality of extrapyramidal motor function
4157	MC1R	HP:0002230	Generalized hirsutism
4157	MC1R	HP:0002227	White eyelashes
4157	MC1R	HP:0002226	White eyebrow
4157	MC1R	HP:0100763	Abnormality of the lymphatic system
4157	MC1R	HP:0002297	Red hair
4157	MC1R	HP:0200098	Absent skin pigmentation
4157	MC1R	HP:0001053	Hypopigmented skin patches
4157	MC1R	HP:0001010	Hypopigmentation of the skin
4157	MC1R	HP:0001022	Albinism
4157	MC1R	HP:0001000	Abnormality of skin pigmentation
4157	MC1R	HP:0005599	Hypopigmentation of hair
4157	MC1R	HP:0000639	Nystagmus
4157	MC1R	HP:0000635	Blue irides
4157	MC1R	HP:0000613	Photophobia
4157	MC1R	HP:0011364	White hair
4157	MC1R	HP:0005600	Congenital giant melanocytic nevus
4157	MC1R	HP:0100013	Neoplasm of the breast
4157	MC1R	HP:0012805	Iris transillumination defect
4157	MC1R	HP:0030856	Posterior staphyloma
4157	MC1R	HP:0000989	Pruritus
4157	MC1R	HP:0000958	Dry skin
4157	MC1R	HP:0100242	Sarcoma
4157	MC1R	HP:0008069	Neoplasm of the skin
4157	MC1R	HP:0007703	Abnormality of retinal pigmentation
4157	MC1R	HP:0001595	Abnormal hair morphology
4157	MC1R	HP:0025551	Optic nerve misrouting
4157	MC1R	HP:0007750	Hypoplasia of the fovea
4157	MC1R	HP:0007730	Iris hypopigmentation
4157	MC1R	HP:0000238	Hydrocephalus
4157	MC1R	HP:0002894	Neoplasm of the pancreas
4157	MC1R	HP:0002861	Melanoma
4157	MC1R	HP:0002859	Rhabdomyosarcoma
4157	MC1R	HP:0007894	Hypopigmentation of the fundus
4157	MC1R	HP:0007988	Macular hypopigmentation
4157	MC1R	HP:0000486	Strabismus
4157	MC1R	HP:0000488	Retinopathy
4157	MC1R	HP:0006753	Neoplasm of the stomach
4157	MC1R	HP:0006739	Squamous cell carcinoma of the skin
4157	MC1R	HP:0000505	Visual impairment
4157	MC1R	HP:0000577	Exotropia
4157	MC1R	HP:0000539	Abnormality of refraction
4157	MC1R	HP:0000545	Myopia
4158	MC2R	HP:0002445	Tetraplegia
4158	MC2R	HP:0001250	Seizure
4158	MC2R	HP:0001249	Intellectual disability
4158	MC2R	HP:0001259	Coma
4158	MC2R	HP:0002574	Episodic abdominal pain
4158	MC2R	HP:0007440	Generalized hyperpigmentation
4158	MC2R	HP:0031074	Abnormal response to ACTH stimulation test
4158	MC2R	HP:0031076	Impaired cortisol response to insulin stimulation test
4158	MC2R	HP:0000098	Tall stature
4158	MC2R	HP:0000028	Cryptorchidism
4158	MC2R	HP:0000027	Azoospermia
4158	MC2R	HP:0001325	Hypoglycemic coma
4158	MC2R	HP:0000010	Recurrent urinary tract infections
4158	MC2R	HP:0000007	Autosomal recessive inheritance
4158	MC2R	HP:0002615	Hypotension
4158	MC2R	HP:0025451	Testicular adrenal rest tumor
4158	MC2R	HP:0000127	Renal salt wasting
4158	MC2R	HP:0031214	Decreased circulating dehydroepiandrosterone concentration
4158	MC2R	HP:0002719	Recurrent infections
4158	MC2R	HP:0002019	Constipation
4158	MC2R	HP:0002014	Diarrhea
4158	MC2R	HP:0002013	Vomiting
4158	MC2R	HP:0002039	Anorexia
4158	MC2R	HP:0008163	Decreased circulating cortisol level
4158	MC2R	HP:0002153	Hyperkalemia
4158	MC2R	HP:0002173	Hypoglycemic seizures
4158	MC2R	HP:0003577	Congenital onset
4158	MC2R	HP:0100618	Leydig cell neoplasia
4158	MC2R	HP:0012605	Hypernatriuria
4158	MC2R	HP:0001988	Recurrent hypoglycemia
4158	MC2R	HP:0004319	Decreased circulating aldosterone level
4158	MC2R	HP:0005616	Accelerated skeletal maturation
4158	MC2R	HP:0012734	Ketotic hypoglycemia
4158	MC2R	HP:0003154	Increased circulating ACTH level
4158	MC2R	HP:0000851	Congenital hypothyroidism
4158	MC2R	HP:0000846	Adrenal insufficiency
4158	MC2R	HP:0000826	Precocious puberty
4158	MC2R	HP:0040084	Abnormal circulating renin
4158	MC2R	HP:0040085	Abnormal circulating aldosterone
4158	MC2R	HP:0000953	Hyperpigmentation of the skin
4158	MC2R	HP:0001508	Failure to thrive
4158	MC2R	HP:0011043	Abnormal circulating adrenocorticotropin concentration
4158	MC2R	HP:0002902	Hyponatremia
4158	MC2R	HP:0002960	Autoimmunity
4158	MC2R	HP:0001639	Hypertrophic cardiomyopathy
4158	MC2R	HP:0012432	Chronic fatigue
4158	MC2R	HP:0001824	Weight loss
4160	MC4R	HP:0002591	Polyphagia
4160	MC4R	HP:0000098	Tall stature
4160	MC4R	HP:0000007	Autosomal recessive inheritance
4160	MC4R	HP:0000006	Autosomal dominant inheritance
4160	MC4R	HP:0008915	Childhood-onset truncal obesity
4160	MC4R	HP:0005978	Type II diabetes mellitus
4160	MC4R	HP:0002155	Hypertriglyceridemia
4160	MC4R	HP:0009126	Increased adipose tissue
4160	MC4R	HP:0000842	Hyperinsulinemia
4160	MC4R	HP:0000822	Hypertension
4160	MC4R	HP:0000956	Acanthosis nigricans
4160	MC4R	HP:0001513	Obesity
4160	MC4R	HP:0011001	Increased bone mineral density
4163	MCC	HP:0000006	Autosomal dominant inheritance
4163	MCC	HP:0001428	Somatic mutation
4163	MCC	HP:0005584	Renal cell carcinoma
4163	MCC	HP:0002891	Uterine leiomyosarcoma
4163	MCC	HP:0006753	Neoplasm of the stomach
4163	MCC	HP:0006740	Transitional cell carcinoma of the bladder
4163	MCC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
4166	CHST6	HP:0001131	Corneal dystrophy
4166	CHST6	HP:0001141	Severely reduced visual acuity
4166	CHST6	HP:0000007	Autosomal recessive inheritance
4166	CHST6	HP:0012155	Decreased corneal sensation
4166	CHST6	HP:0200026	Ocular pain
4166	CHST6	HP:0100689	Decreased corneal thickness
4166	CHST6	HP:0003621	Juvenile onset
4166	CHST6	HP:0000613	Photophobia
4166	CHST6	HP:0001939	Abnormality of metabolism/homeostasis
4166	CHST6	HP:0007759	Opacification of the corneal stroma
4166	CHST6	HP:0007754	Macular dystrophy
4166	CHST6	HP:0007856	Punctate opacification of the cornea
4166	CHST6	HP:0000484	Hyperopic astigmatism
4166	CHST6	HP:0000495	Recurrent corneal erosions
4166	CHST6	HP:0000531	Corneal crystals
4171	MCM2	HP:0003828	Variable expressivity
4171	MCM2	HP:0000006	Autosomal dominant inheritance
4171	MCM2	HP:0003677	Slowly progressive
4171	MCM2	HP:0000408	Progressive sensorineural hearing impairment
4171	MCM2	HP:0001751	Abnormal vestibular function
4173	MCM4	HP:0008897	Postnatal growth retardation
4173	MCM4	HP:0000007	Autosomal recessive inheritance
4173	MCM4	HP:0002716	Lymphadenopathy
4173	MCM4	HP:0002093	Respiratory insufficiency
4173	MCM4	HP:0011749	Adrenocorticotropic hormone excess
4173	MCM4	HP:0002240	Hepatomegaly
4173	MCM4	HP:0002205	Recurrent respiratory infections
4173	MCM4	HP:0005523	Lymphoproliferative disorder
4173	MCM4	HP:0011342	Mild global developmental delay
4173	MCM4	HP:0004322	Short stature
4173	MCM4	HP:0011410	Caesarian section
4173	MCM4	HP:0004429	Recurrent viral infections
4173	MCM4	HP:0000846	Adrenal insufficiency
4173	MCM4	HP:0040012	Chromosome breakage
4173	MCM4	HP:0040218	Reduced natural killer cell count
4173	MCM4	HP:0000953	Hyperpigmentation of the skin
4173	MCM4	HP:0000252	Microcephaly
4173	MCM4	HP:0002878	Respiratory failure
4173	MCM4	HP:0001508	Failure to thrive
4173	MCM4	HP:0001511	Intrauterine growth retardation
4173	MCM4	HP:0001744	Splenomegaly
4174	MCM5	HP:0008551	Microtia
4174	MCM5	HP:0008689	Bilateral cryptorchidism
4174	MCM5	HP:0000007	Autosomal recessive inheritance
4174	MCM5	HP:0000160	Narrow mouth
4174	MCM5	HP:0003593	Infantile onset
4174	MCM5	HP:0004325	Decreased body weight
4174	MCM5	HP:0001511	Intrauterine growth retardation
4174	MCM5	HP:0000369	Low-set ears
4174	MCM5	HP:0000347	Micrognathia
4174	MCM5	HP:0012471	Thick vermilion border
4174	MCM5	HP:0011126	Nephroptosis
4174	MCM5	HP:0012583	Unilateral renal hypoplasia
4175	MCM6	HP:0025130	Decreased small intestinal mucosa lactase level
4175	MCM6	HP:0033589	Flatulence
4175	MCM6	HP:0000006	Autosomal dominant inheritance
4175	MCM6	HP:0002027	Abdominal pain
4175	MCM6	HP:0002014	Diarrhea
4175	MCM6	HP:0004789	Lactose intolerance
4175	MCM6	HP:0003621	Juvenile onset
4175	MCM6	HP:0011463	Childhood onset
4175	MCM6	HP:0011462	Young adult onset
4176	MCM7	HP:0010864	Intellectual disability, severe
4176	MCM7	HP:0001274	Agenesis of corpus callosum
4176	MCM7	HP:0001263	Global developmental delay
4176	MCM7	HP:0007333	Hypoplasia of the frontal lobes
4176	MCM7	HP:0000076	Vesicoureteral reflux
4176	MCM7	HP:0001347	Hyperreflexia
4176	MCM7	HP:0001302	Pachygyria
4176	MCM7	HP:0000122	Unilateral renal agenesis
4176	MCM7	HP:0002119	Ventriculomegaly
4176	MCM7	HP:0002282	Gray matter heterotopia
4176	MCM7	HP:0004322	Short stature
4176	MCM7	HP:0003103	Abnormal cortical bone morphology
4176	MCM7	HP:0000252	Microcephaly
4176	MCM7	HP:0000219	Thin upper lip vermilion
4176	MCM7	HP:0001510	Growth delay
4176	MCM7	HP:0000340	Sloping forehead
4176	MCM7	HP:0000582	Upslanted palpebral fissure
4179	CD46	HP:0007430	Generalized edema
4179	CD46	HP:0000093	Proteinuria
4179	CD46	HP:0001342	Cerebral hemorrhage
4179	CD46	HP:0000007	Autosomal recessive inheritance
4179	CD46	HP:0000006	Autosomal dominant inheritance
4179	CD46	HP:0002615	Hypotension
4179	CD46	HP:0025435	Increased circulating lactate dehydrogenase concentration
4179	CD46	HP:0410019	Epigastric pain
4179	CD46	HP:0002018	Nausea
4179	CD46	HP:0002027	Abdominal pain
4179	CD46	HP:0002013	Vomiting
4179	CD46	HP:0100519	Anuria
4179	CD46	HP:0100598	Pulmonary edema
4179	CD46	HP:0008151	Prolonged prothrombin time
4179	CD46	HP:0003418	Back pain
4179	CD46	HP:0011900	Hypofibrinogenemia
4179	CD46	HP:0002202	Pleural effusion
4179	CD46	HP:0001058	Poor wound healing
4179	CD46	HP:0002315	Headache
4179	CD46	HP:0100601	Eclampsia
4179	CD46	HP:0100602	Preeclampsia
4179	CD46	HP:0003641	Hemoglobinuria
4179	CD46	HP:0003621	Juvenile onset
4179	CD46	HP:0005521	Disseminated intravascular coagulation
4179	CD46	HP:0005575	Hemolytic-uremic syndrome
4179	CD46	HP:0001937	Microangiopathic hemolytic anemia
4179	CD46	HP:0001903	Anemia
4179	CD46	HP:0001919	Acute kidney injury
4179	CD46	HP:0004324	Increased body weight
4179	CD46	HP:0011419	Placental abruption
4179	CD46	HP:0011463	Childhood onset
4179	CD46	HP:0000790	Hematuria
4179	CD46	HP:0003138	Increased blood urea nitrogen
4179	CD46	HP:0000822	Hypertension
4179	CD46	HP:0030834	Shoulder pain
4179	CD46	HP:0003259	Elevated circulating creatinine concentration
4179	CD46	HP:0008071	Maternal hypertension
4179	CD46	HP:0025547	Decreased mean corpuscular hemoglobin concentration
4179	CD46	HP:0012378	Fatigue
4179	CD46	HP:0011029	Internal hemorrhage
4179	CD46	HP:0002910	Elevated hepatic transaminase
4179	CD46	HP:0005421	Decreased circulating complement C3 concentration
4179	CD46	HP:0001878	Hemolytic anemia
4179	CD46	HP:0001873	Thrombocytopenia
4190	MDH1	HP:0500149	Hyperglutamatemia
4190	MDH1	HP:0001276	Hypertonia
4190	MDH1	HP:0001250	Seizure
4190	MDH1	HP:0001263	Global developmental delay
4190	MDH1	HP:0100876	Infra-orbital crease
4190	MDH1	HP:0002521	Hypsarrhythmia
4190	MDH1	HP:0001338	Partial agenesis of the corpus callosum
4190	MDH1	HP:0000007	Autosomal recessive inheritance
4190	MDH1	HP:0008936	Axial hypotonia
4190	MDH1	HP:0012110	Hypoplasia of the pons
4190	MDH1	HP:0200134	Epileptic encephalopathy
4190	MDH1	HP:0007068	Inferior cerebellar vermis hypoplasia
4190	MDH1	HP:0000253	Progressive microcephaly
4190	MDH1	HP:0000232	Everted lower lip vermilion
4190	MDH1	HP:0001510	Growth delay
4190	MDH1	HP:0000348	High forehead
4190	MDH1	HP:0005280	Depressed nasal bridge
4191	MDH2	HP:0002490	Increased CSF lactate
4191	MDH2	HP:0008629	Pulsatile tinnitus
4191	MDH2	HP:0007256	Abnormal pyramidal sign
4191	MDH2	HP:0002421	Poor head control
4191	MDH2	HP:0025269	Panic attack
4191	MDH2	HP:0001293	Cranial nerve compression
4191	MDH2	HP:0001272	Cerebellar atrophy
4191	MDH2	HP:0001250	Seizure
4191	MDH2	HP:0001252	Hypotonia
4191	MDH2	HP:0001265	Hyporeflexia
4191	MDH2	HP:0001263	Global developmental delay
4191	MDH2	HP:0002558	Supernumerary nipple
4191	MDH2	HP:0002574	Episodic abdominal pain
4191	MDH2	HP:0007371	Corpus callosum atrophy
4191	MDH2	HP:0007359	Focal-onset seizure
4191	MDH2	HP:0002540	Inability to walk
4191	MDH2	HP:0000096	Glomerular sclerosis
4191	MDH2	HP:0000093	Proteinuria
4191	MDH2	HP:0025336	Delayed ability to sit
4191	MDH2	HP:0001332	Dystonia
4191	MDH2	HP:0001324	Muscle weakness
4191	MDH2	HP:0001342	Cerebral hemorrhage
4191	MDH2	HP:0001344	Absent speech
4191	MDH2	HP:0000007	Autosomal recessive inheritance
4191	MDH2	HP:0002668	Paraganglioma
4191	MDH2	HP:0001337	Tremor
4191	MDH2	HP:0002640	Hypertension associated with pheochromocytoma
4191	MDH2	HP:0031284	Flushing
4191	MDH2	HP:0002018	Nausea
4191	MDH2	HP:0002019	Constipation
4191	MDH2	HP:0003345	Elevated urinary norepinephrine
4191	MDH2	HP:0033128	Delayed ability to crawl
4191	MDH2	HP:0011703	Sinus tachycardia
4191	MDH2	HP:0003487	Babinski sign
4191	MDH2	HP:0002151	Increased serum lactate
4191	MDH2	HP:0002120	Cerebral cortical atrophy
4191	MDH2	HP:0002188	Delayed CNS myelination
4191	MDH2	HP:0010532	Paroxysmal vertigo
4191	MDH2	HP:0003593	Infantile onset
4191	MDH2	HP:0003574	Positive regitine blocking test
4191	MDH2	HP:0003528	Elevated calcitonin
4191	MDH2	HP:0200134	Epileptic encephalopathy
4191	MDH2	HP:0009711	Retinal capillary hemangioma
4191	MDH2	HP:0100749	Chest pain
4191	MDH2	HP:0011979	Elevated urinary dopamine
4191	MDH2	HP:0011968	Feeding difficulties
4191	MDH2	HP:0001069	Episodic hyperhidrosis
4191	MDH2	HP:0002331	Recurrent paroxysmal headache
4191	MDH2	HP:0100660	Dyskinesia
4191	MDH2	HP:0010818	Generalized tonic seizure
4191	MDH2	HP:0001095	Hypertensive retinopathy
4191	MDH2	HP:0003623	Neonatal onset
4191	MDH2	HP:0003639	Elevated urinary epinephrine
4191	MDH2	HP:0005584	Renal cell carcinoma
4191	MDH2	HP:0001962	Palpitations
4191	MDH2	HP:0003072	Hypercalcemia
4191	MDH2	HP:0000740	Episodic paroxysmal anxiety
4191	MDH2	HP:0000790	Hematuria
4191	MDH2	HP:0003202	Skeletal muscle atrophy
4191	MDH2	HP:0000980	Pallor
4191	MDH2	HP:0012222	Arachnoid hemangiomatosis
4191	MDH2	HP:0032653	Elevated lactate:pyruvate ratio
4191	MDH2	HP:0002864	Paraganglioma of head and neck
4191	MDH2	HP:0001508	Failure to thrive
4191	MDH2	HP:0011097	Epileptic spasm
4191	MDH2	HP:0012378	Fatigue
4191	MDH2	HP:0001605	Vocal cord paralysis
4191	MDH2	HP:0001618	Dysphonia
4191	MDH2	HP:0032794	Myoclonic seizure
4191	MDH2	HP:0001635	Congestive heart failure
4191	MDH2	HP:0000405	Conductive hearing impairment
4191	MDH2	HP:0000486	Strabismus
4191	MDH2	HP:0006748	Adrenal pheochromocytoma
4191	MDH2	HP:0006737	Extraadrenal pheochromocytoma
4191	MDH2	HP:0000510	Rod-cone dystrophy
4191	MDH2	HP:0000526	Aniridia
4191	MDH2	HP:0001824	Weight loss
4193	MDM2	HP:0002579	Gastrointestinal dysmotility
4193	MDM2	HP:0007378	Neoplasm of the gastrointestinal tract
4193	MDM2	HP:0000089	Renal hypoplasia
4193	MDM2	HP:0000083	Renal insufficiency
4193	MDM2	HP:0002664	Neoplasm
4193	MDM2	HP:0000007	Autosomal recessive inheritance
4193	MDM2	HP:0002669	Osteosarcoma
4193	MDM2	HP:0002665	Lymphoma
4193	MDM2	HP:0012189	Hodgkin lymphoma
4193	MDM2	HP:0012174	Glioblastoma multiforme
4193	MDM2	HP:0000160	Narrow mouth
4193	MDM2	HP:0012125	Prostate cancer
4193	MDM2	HP:0012126	Stomach cancer
4193	MDM2	HP:0000135	Hypogonadism
4193	MDM2	HP:0001482	Subcutaneous nodule
4193	MDM2	HP:0100526	Neoplasm of the lung
4193	MDM2	HP:0009592	Astrocytoma
4193	MDM2	HP:0002216	Premature graying of hair
4193	MDM2	HP:0002225	Sparse pubic hair
4193	MDM2	HP:0100768	Choriocarcinoma
4193	MDM2	HP:0009726	Renal neoplasm
4193	MDM2	HP:0100743	Neoplasm of the rectum
4193	MDM2	HP:0004808	Acute myeloid leukemia
4193	MDM2	HP:0100605	Neoplasm of the larynx
4193	MDM2	HP:0200063	Colorectal polyposis
4193	MDM2	HP:0100615	Ovarian neoplasm
4193	MDM2	HP:0010788	Testicular neoplasm
4193	MDM2	HP:0001909	Leukemia
4193	MDM2	HP:0004322	Short stature
4193	MDM2	HP:0003002	Breast carcinoma
4193	MDM2	HP:0003003	Colon cancer
4193	MDM2	HP:0100006	Neoplasm of the central nervous system
4193	MDM2	HP:0000822	Hypertension
4193	MDM2	HP:0012288	Neoplasm of head and neck
4193	MDM2	HP:0030070	Central primitive neuroectodermal tumor
4193	MDM2	HP:0012211	Abnormal renal physiology
4193	MDM2	HP:0002894	Neoplasm of the pancreas
4193	MDM2	HP:0002890	Thyroid carcinoma
4193	MDM2	HP:0002888	Ependymoma
4193	MDM2	HP:0002885	Medulloblastoma
4193	MDM2	HP:0002861	Melanoma
4193	MDM2	HP:0002859	Rhabdomyosarcoma
4193	MDM2	HP:0002863	Myelodysplasia
4193	MDM2	HP:0001620	High pitched voice
4193	MDM2	HP:0000446	Narrow nasal bridge
4193	MDM2	HP:0006744	Adrenocortical carcinoma
4193	MDM2	HP:0006721	Acute lymphoblastic leukemia
4193	MDM2	HP:0012539	Non-Hodgkin lymphoma
4193	MDM2	HP:0030392	Choroid plexus carcinoma
4194	MDM4	HP:0000006	Autosomal dominant inheritance
4194	MDM4	HP:0003326	Myalgia
4194	MDM4	HP:0011904	Persistence of hemoglobin F
4194	MDM4	HP:0005528	Bone marrow hypocellularity
4194	MDM4	HP:0005518	Increased mean corpuscular volume
4194	MDM4	HP:0001903	Anemia
4194	MDM4	HP:0000821	Hypothyroidism
4194	MDM4	HP:0000938	Osteopenia
4194	MDM4	HP:0031413	Short telomere length
4194	MDM4	HP:0011108	Recurrent sinusitis
4194	MDM4	HP:0012432	Chronic fatigue
4194	MDM4	HP:0030413	Squamous cell carcinoma of the tongue
4194	MDM4	HP:0001888	Lymphopenia
4194	MDM4	HP:0001875	Neutropenia
4204	MECP2	HP:0002490	Increased CSF lactate
4204	MECP2	HP:0003781	Excessive salivation
4204	MECP2	HP:0001118	Juvenile cataract
4204	MECP2	HP:0007328	Impaired pain sensation
4204	MECP2	HP:0007302	Bipolar affective disorder
4204	MECP2	HP:0007281	Developmental stagnation
4204	MECP2	HP:0010864	Intellectual disability, severe
4204	MECP2	HP:0003763	Bruxism
4204	MECP2	HP:0001298	Encephalopathy
4204	MECP2	HP:0001297	Stroke
4204	MECP2	HP:0025269	Panic attack
4204	MECP2	HP:0001288	Gait disturbance
4204	MECP2	HP:0001256	Intellectual disability, mild
4204	MECP2	HP:0001250	Seizure
4204	MECP2	HP:0001252	Hypotonia
4204	MECP2	HP:0001251	Ataxia
4204	MECP2	HP:0001249	Intellectual disability
4204	MECP2	HP:0001266	Choreoathetosis
4204	MECP2	HP:0001263	Global developmental delay
4204	MECP2	HP:0001258	Spastic paraplegia
4204	MECP2	HP:0001257	Spasticity
4204	MECP2	HP:0001239	Wrist flexion contracture
4204	MECP2	HP:0008762	Repetitive compulsive behavior
4204	MECP2	HP:0100852	Abnormal fear/anxiety-related behavior
4204	MECP2	HP:0002540	Inability to walk
4204	MECP2	HP:0002510	Spastic tetraplegia
4204	MECP2	HP:0002505	Loss of ambulation
4204	MECP2	HP:0003808	Abnormal muscle tone
4204	MECP2	HP:0025387	Pill-rolling tremor
4204	MECP2	HP:0001371	Flexion contracture
4204	MECP2	HP:0025336	Delayed ability to sit
4204	MECP2	HP:0001387	Joint stiffness
4204	MECP2	HP:0000053	Macroorchidism
4204	MECP2	HP:0000047	Hypospadias
4204	MECP2	HP:0001347	Hyperreflexia
4204	MECP2	HP:0000026	Male hypogonadism
4204	MECP2	HP:0000028	Cryptorchidism
4204	MECP2	HP:0008872	Feeding difficulties in infancy
4204	MECP2	HP:0001332	Dystonia
4204	MECP2	HP:0001344	Absent speech
4204	MECP2	HP:0001337	Tremor
4204	MECP2	HP:0001336	Myoclonus
4204	MECP2	HP:0002650	Scoliosis
4204	MECP2	HP:0001319	Neonatal hypotonia
4204	MECP2	HP:0001300	Parkinsonism
4204	MECP2	HP:0012171	Stereotypical hand wringing
4204	MECP2	HP:0000164	Abnormality of the dentition
4204	MECP2	HP:0000160	Narrow mouth
4204	MECP2	HP:0025430	High-pitched cry
4204	MECP2	HP:0008947	Infantile muscular hypotonia
4204	MECP2	HP:0008936	Axial hypotonia
4204	MECP2	HP:0002793	Abnormal pattern of respiration
4204	MECP2	HP:0025403	Stooped posture
4204	MECP2	HP:0001423	X-linked dominant inheritance
4204	MECP2	HP:0002751	Kyphoscoliosis
4204	MECP2	HP:0002750	Delayed skeletal maturation
4204	MECP2	HP:0001419	X-linked recessive inheritance
4204	MECP2	HP:0001417	X-linked inheritance
4204	MECP2	HP:0002719	Recurrent infections
4204	MECP2	HP:0032588	Hand apraxia
4204	MECP2	HP:0002020	Gastroesophageal reflux
4204	MECP2	HP:0002019	Constipation
4204	MECP2	HP:0002015	Dysphagia
4204	MECP2	HP:0011800	Midface retrusion
4204	MECP2	HP:0002093	Respiratory insufficiency
4204	MECP2	HP:0002067	Bradykinesia
4204	MECP2	HP:0002066	Gait ataxia
4204	MECP2	HP:0002063	Rigidity
4204	MECP2	HP:0002064	Spastic gait
4204	MECP2	HP:0002061	Lower limb spasticity
4204	MECP2	HP:0002078	Truncal ataxia
4204	MECP2	HP:0002072	Chorea
4204	MECP2	HP:0002039	Anorexia
4204	MECP2	HP:0003487	Babinski sign
4204	MECP2	HP:0002151	Increased serum lactate
4204	MECP2	HP:0002123	Generalized myoclonic seizure
4204	MECP2	HP:0002120	Cerebral cortical atrophy
4204	MECP2	HP:0002121	Generalized non-motor (absence) seizure
4204	MECP2	HP:0002136	Broad-based gait
4204	MECP2	HP:0002133	Status epilepticus
4204	MECP2	HP:0002126	Polymicrogyria
4204	MECP2	HP:0002104	Apnea
4204	MECP2	HP:0002186	Apraxia
4204	MECP2	HP:0002187	Intellectual disability, profound
4204	MECP2	HP:0002194	Delayed gross motor development
4204	MECP2	HP:0002191	Progressive spasticity
4204	MECP2	HP:0002167	Abnormality of speech or vocalization
4204	MECP2	HP:0010521	Gait apraxia
4204	MECP2	HP:0003593	Infantile onset
4204	MECP2	HP:0003577	Congenital onset
4204	MECP2	HP:0100703	Tongue thrusting
4204	MECP2	HP:0004879	Intermittent hyperventilation
4204	MECP2	HP:0003542	Increased serum pyruvate
4204	MECP2	HP:0002205	Recurrent respiratory infections
4204	MECP2	HP:0007021	Pain insensitivity
4204	MECP2	HP:0011968	Feeding difficulties
4204	MECP2	HP:0002395	Lower limb hyperreflexia
4204	MECP2	HP:0002362	Shuffling gait
4204	MECP2	HP:0002360	Sleep disturbance
4204	MECP2	HP:0002376	Developmental regression
4204	MECP2	HP:0002371	Loss of speech
4204	MECP2	HP:0003676	Progressive
4204	MECP2	HP:0002342	Intellectual disability, moderate
4204	MECP2	HP:0002355	Difficulty walking
4204	MECP2	HP:0002353	EEG abnormality
4204	MECP2	HP:0003677	Slowly progressive
4204	MECP2	HP:0002322	Resting tremor
4204	MECP2	HP:0002333	Motor deterioration
4204	MECP2	HP:0002332	Lack of peer relationships
4204	MECP2	HP:0010845	EEG with generalized slow activity
4204	MECP2	HP:0010804	Tented upper lip vermilion
4204	MECP2	HP:0001082	Cholecystitis
4204	MECP2	HP:0200055	Small hand
4204	MECP2	HP:0032169	Severe infection
4204	MECP2	HP:0007110	Central hypoventilation
4204	MECP2	HP:0002300	Mutism
4204	MECP2	HP:0002307	Drooling
4204	MECP2	HP:0004209	Clinodactyly of the 5th finger
4204	MECP2	HP:0006801	Hyperactive deep tendon reflexes
4204	MECP2	HP:0004299	Hernia of the abdominal wall
4204	MECP2	HP:0006887	Intellectual disability, progressive
4204	MECP2	HP:0031793	Increased serum leptin
4204	MECP2	HP:0011344	Severe global developmental delay
4204	MECP2	HP:0000687	Widely spaced teeth
4204	MECP2	HP:0001987	Hyperammonemia
4204	MECP2	HP:0004325	Decreased body weight
4204	MECP2	HP:0004322	Short stature
4204	MECP2	HP:0004326	Cachexia
4204	MECP2	HP:0004302	Functional motor deficit
4204	MECP2	HP:0004305	Involuntary movements
4204	MECP2	HP:0006919	Abnormal aggressive, impulsive or violent behavior
4204	MECP2	HP:0031936	Delayed ability to walk
4204	MECP2	HP:0000758	Abnormal nonverbal communicative behavior
4204	MECP2	HP:0000752	Hyperactivity
4204	MECP2	HP:0000771	Gynecomastia
4204	MECP2	HP:0100022	Abnormality of movement
4204	MECP2	HP:0000767	Pectus excavatum
4204	MECP2	HP:0000737	Irritability
4204	MECP2	HP:0000739	Anxiety
4204	MECP2	HP:0000733	Abnormal repetitive mannerisms
4204	MECP2	HP:0000735	Impaired social interactions
4204	MECP2	HP:0000732	Inflexible adherence to routines or rituals
4204	MECP2	HP:0000750	Delayed speech and language development
4204	MECP2	HP:0012719	Functional abnormality of the gastrointestinal tract
4204	MECP2	HP:0000748	Inappropriate laughter
4204	MECP2	HP:0000716	Depression
4204	MECP2	HP:0000718	Aggressive behavior
4204	MECP2	HP:0000717	Autism
4204	MECP2	HP:0000712	Emotional lability
4204	MECP2	HP:0000711	Restlessness
4204	MECP2	HP:0000713	Agitation
4204	MECP2	HP:0000729	Autistic behavior
4204	MECP2	HP:0000723	Restrictive behavior
4204	MECP2	HP:0000721	Lack of spontaneous play
4204	MECP2	HP:0000709	Psychosis
4204	MECP2	HP:0011463	Childhood onset
4204	MECP2	HP:0011451	Primary microcephaly
4204	MECP2	HP:0005709	2-3 toe cutaneous syndactyly
4204	MECP2	HP:0003144	Increased serum serotonin
4204	MECP2	HP:0000817	Reduced eye contact
4204	MECP2	HP:0003202	Skeletal muscle atrophy
4204	MECP2	HP:0045084	Limb myoclonus
4204	MECP2	HP:0000286	Epicanthus
4204	MECP2	HP:0000297	Facial hypotonia
4204	MECP2	HP:0000256	Macrocephaly
4204	MECP2	HP:0000272	Malar flattening
4204	MECP2	HP:0005135	Abnormal T-wave
4204	MECP2	HP:0002808	Kyphosis
4204	MECP2	HP:0000253	Progressive microcephaly
4204	MECP2	HP:0000252	Microcephaly
4204	MECP2	HP:0000248	Brachycephaly
4204	MECP2	HP:0002882	Sudden episodic apnea
4204	MECP2	HP:0000218	High palate
4204	MECP2	HP:0002876	Episodic tachypnea
4204	MECP2	HP:0000232	Everted lower lip vermilion
4204	MECP2	HP:0001508	Failure to thrive
4204	MECP2	HP:0001510	Growth delay
4204	MECP2	HP:0001513	Obesity
4204	MECP2	HP:0007824	Total ophthalmoplegia
4204	MECP2	HP:0002916	Abnormality of chromosome segregation
4204	MECP2	HP:0005184	Prolonged QTc interval
4204	MECP2	HP:0000369	Low-set ears
4204	MECP2	HP:0012332	Abnormal autonomic nervous system physiology
4204	MECP2	HP:0032792	Tonic seizure
4204	MECP2	HP:0000347	Micrognathia
4204	MECP2	HP:0031473	Hostility
4204	MECP2	HP:0001635	Congestive heart failure
4204	MECP2	HP:0011188	Focal EEG discharges with secondary generalization
4204	MECP2	HP:0032989	Delayed ability to roll over
4204	MECP2	HP:0032988	Persistent head lag
4204	MECP2	HP:0005324	Disturbance of facial expression
4204	MECP2	HP:0000400	Macrotia
4204	MECP2	HP:0005280	Depressed nasal bridge
4204	MECP2	HP:0030215	Inappropriate crying
4204	MECP2	HP:0030217	Limb apraxia
4204	MECP2	HP:0012469	Infantile spasms
4204	MECP2	HP:0000463	Anteverted nares
4204	MECP2	HP:0012450	Chronic constipation
4204	MECP2	HP:0000470	Short neck
4204	MECP2	HP:0001773	Short foot
4204	MECP2	HP:0000431	Wide nasal bridge
4204	MECP2	HP:0001761	Pes cavus
4204	MECP2	HP:0000426	Prominent nasal bridge
4204	MECP2	HP:0005484	Secondary microcephaly
4204	MECP2	HP:0000508	Ptosis
4204	MECP2	HP:0000582	Upslanted palpebral fissure
4204	MECP2	HP:0000581	Blepharophimosis
4205	MEF2A	HP:0000006	Autosomal dominant inheritance
4205	MEF2A	HP:0003581	Adult onset
4205	MEF2A	HP:0100749	Chest pain
4205	MEF2A	HP:0003124	Hypercholesterolemia
4205	MEF2A	HP:0000819	Diabetes mellitus
4205	MEF2A	HP:0000822	Hypertension
4205	MEF2A	HP:0001513	Obesity
4205	MEF2A	HP:0005181	Premature coronary artery atherosclerosis
4205	MEF2A	HP:0001658	Myocardial infarction
4208	MEF2C	HP:0010864	Intellectual disability, severe
4208	MEF2C	HP:0003745	Sporadic
4208	MEF2C	HP:0001270	Motor delay
4208	MEF2C	HP:0001250	Seizure
4208	MEF2C	HP:0001252	Hypotonia
4208	MEF2C	HP:0002540	Inability to walk
4208	MEF2C	HP:0002518	Abnormal periventricular white matter morphology
4208	MEF2C	HP:0002500	Abnormal cerebral white matter morphology
4208	MEF2C	HP:0025336	Delayed ability to sit
4208	MEF2C	HP:0001344	Absent speech
4208	MEF2C	HP:0000006	Autosomal dominant inheritance
4208	MEF2C	HP:0000180	Lobulated tongue
4208	MEF2C	HP:0000194	Open mouth
4208	MEF2C	HP:0002714	Downturned corners of mouth
4208	MEF2C	HP:0004691	2-3 toe syndactyly
4208	MEF2C	HP:0002079	Hypoplasia of the corpus callosum
4208	MEF2C	HP:0002119	Ventriculomegaly
4208	MEF2C	HP:0002198	Dilated fourth ventricle
4208	MEF2C	HP:0003593	Infantile onset
4208	MEF2C	HP:0200134	Epileptic encephalopathy
4208	MEF2C	HP:0011968	Feeding difficulties
4208	MEF2C	HP:0002335	Agenesis of cerebellar vermis
4208	MEF2C	HP:0004209	Clinodactyly of the 5th finger
4208	MEF2C	HP:0000609	Optic nerve hypoplasia
4208	MEF2C	HP:0012639	Abnormal nervous system morphology
4208	MEF2C	HP:0006956	Lateral ventricle dilatation
4208	MEF2C	HP:0006913	Frontal cortical atrophy
4208	MEF2C	HP:0031936	Delayed ability to walk
4208	MEF2C	HP:0000733	Abnormal repetitive mannerisms
4208	MEF2C	HP:0000750	Delayed speech and language development
4208	MEF2C	HP:0000729	Autistic behavior
4208	MEF2C	HP:0003196	Short nose
4208	MEF2C	HP:0000954	Single transverse palmar crease
4208	MEF2C	HP:0000219	Thin upper lip vermilion
4208	MEF2C	HP:0000369	Low-set ears
4208	MEF2C	HP:0000337	Broad forehead
4208	MEF2C	HP:0000348	High forehead
4208	MEF2C	HP:0000316	Hypertelorism
4208	MEF2C	HP:0000331	Short chin
4208	MEF2C	HP:0000322	Short philtrum
4208	MEF2C	HP:0005280	Depressed nasal bridge
4208	MEF2C	HP:0000486	Strabismus
4208	MEF2C	HP:0000490	Deeply set eye
4208	MEF2C	HP:0000463	Anteverted nares
4208	MEF2C	HP:0001770	Toe syndactyly
4208	MEF2C	HP:0000582	Upslanted palpebral fissure
4208	MEF2C	HP:0000574	Thick eyebrow
4210	MEFV	HP:0001155	Abnormality of the hand
4210	MEFV	HP:0003774	Stage 5 chronic kidney disease
4210	MEFV	HP:0007256	Abnormal pyramidal sign
4210	MEFV	HP:0010885	Avascular necrosis
4210	MEFV	HP:0100820	Glomerulopathy
4210	MEFV	HP:0001269	Hemiparesis
4210	MEFV	HP:0001287	Meningitis
4210	MEFV	HP:0001289	Confusion
4210	MEFV	HP:0001288	Gait disturbance
4210	MEFV	HP:0002586	Peritonitis
4210	MEFV	HP:0001250	Seizure
4210	MEFV	HP:0001251	Ataxia
4210	MEFV	HP:0002574	Episodic abdominal pain
4210	MEFV	HP:0002516	Increased intracranial pressure
4210	MEFV	HP:0032324	Non-periodic recurrent fever
4210	MEFV	HP:0000083	Renal insufficiency
4210	MEFV	HP:0000093	Proteinuria
4210	MEFV	HP:0001369	Arthritis
4210	MEFV	HP:0001386	Joint swelling
4210	MEFV	HP:0001347	Hyperreflexia
4210	MEFV	HP:0002664	Neoplasm
4210	MEFV	HP:0000007	Autosomal recessive inheritance
4210	MEFV	HP:0000006	Autosomal dominant inheritance
4210	MEFV	HP:0002637	Cerebral ischemia
4210	MEFV	HP:0002633	Vasculitis
4210	MEFV	HP:0025474	Erythematous plaque
4210	MEFV	HP:0025452	Pyoderma gangrenosum
4210	MEFV	HP:0000155	Oral ulcer
4210	MEFV	HP:0001482	Subcutaneous nodule
4210	MEFV	HP:0000121	Nephrocalcinosis
4210	MEFV	HP:0000100	Nephrotic syndrome
4210	MEFV	HP:0002758	Osteoarthritis
4210	MEFV	HP:0000112	Nephropathy
4210	MEFV	HP:0031236	Predominantly dermal neutrophilic infiltrate
4210	MEFV	HP:0002745	Oral leukoplakia
4210	MEFV	HP:0002719	Recurrent infections
4210	MEFV	HP:0002716	Lymphadenopathy
4210	MEFV	HP:0002024	Malabsorption
4210	MEFV	HP:0002019	Constipation
4210	MEFV	HP:0002017	Nausea and vomiting
4210	MEFV	HP:0002037	Inflammation of the large intestine
4210	MEFV	HP:0002027	Abdominal pain
4210	MEFV	HP:0040313	Oligoarthritis
4210	MEFV	HP:0003326	Myalgia
4210	MEFV	HP:0002014	Diarrhea
4210	MEFV	HP:0002013	Vomiting
4210	MEFV	HP:0033188	Cystic acne
4210	MEFV	HP:0002076	Migraine
4210	MEFV	HP:0002039	Anorexia
4210	MEFV	HP:0100584	Endocarditis
4210	MEFV	HP:0002102	Pleuritis
4210	MEFV	HP:0002113	Pulmonary infiltrates
4210	MEFV	HP:0002105	Hemoptysis
4210	MEFV	HP:0011897	Neutrophilia
4210	MEFV	HP:0003401	Paresthesia
4210	MEFV	HP:0003593	Infantile onset
4210	MEFV	HP:0002240	Hepatomegaly
4210	MEFV	HP:0002239	Gastrointestinal hemorrhage
4210	MEFV	HP:0003565	Elevated erythrocyte sedimentation rate
4210	MEFV	HP:0002202	Pleural effusion
4210	MEFV	HP:0002204	Pulmonary embolism
4210	MEFV	HP:0100796	Orchitis
4210	MEFV	HP:0100749	Chest pain
4210	MEFV	HP:0100758	Gangrene
4210	MEFV	HP:0033332	Elevated circulating amyloid A
4210	MEFV	HP:0011944	Small vessel vasculitis
4210	MEFV	HP:0004808	Acute myeloid leukemia
4210	MEFV	HP:0001055	Erysipelas
4210	MEFV	HP:0002383	Infectious encephalitis
4210	MEFV	HP:0001061	Acne
4210	MEFV	HP:0002376	Developmental regression
4210	MEFV	HP:0002354	Memory impairment
4210	MEFV	HP:0002321	Vertigo
4210	MEFV	HP:0002315	Headache
4210	MEFV	HP:0100653	Optic neuritis
4210	MEFV	HP:0100654	Retrobulbar optic neuritis
4210	MEFV	HP:0200037	Skin vesicle
4210	MEFV	HP:0200036	Skin nodule
4210	MEFV	HP:0200034	Papule
4210	MEFV	HP:0001097	Keratoconjunctivitis sicca
4210	MEFV	HP:0100614	Myositis
4210	MEFV	HP:0200039	Pustule
4210	MEFV	HP:0010783	Erythema
4210	MEFV	HP:0032154	Aphthous ulcer
4210	MEFV	HP:0010741	Pedal edema
4210	MEFV	HP:0004936	Venous thrombosis
4210	MEFV	HP:0003621	Juvenile onset
4210	MEFV	HP:0020169	Abnormal drug response
4210	MEFV	HP:0006824	Cranial nerve paralysis
4210	MEFV	HP:0005550	Chronic lymphatic leukemia
4210	MEFV	HP:0001974	Leukocytosis
4210	MEFV	HP:0000618	Blindness
4210	MEFV	HP:0000613	Photophobia
4210	MEFV	HP:0001945	Fever
4210	MEFV	HP:0001954	Recurrent fever
4210	MEFV	HP:0001903	Anemia
4210	MEFV	HP:0001917	Renal amyloidosis
4210	MEFV	HP:0012649	Increased inflammatory response
4210	MEFV	HP:0003002	Breast carcinoma
4210	MEFV	HP:0004377	Hematological neoplasm
4210	MEFV	HP:0000737	Irritability
4210	MEFV	HP:0000708	Atypical behavior
4210	MEFV	HP:0011463	Childhood onset
4210	MEFV	HP:0011462	Young adult onset
4210	MEFV	HP:0004420	Arterial thrombosis
4210	MEFV	HP:0005764	Polyarticular arthritis
4210	MEFV	HP:0030783	Increased circulating interleukin 6 concentration
4210	MEFV	HP:0030782	Abnormal circulating interleukin concentration
4210	MEFV	HP:0100326	Immunologic hypersensitivity
4210	MEFV	HP:0045086	Knee joint hypermobility
4210	MEFV	HP:0100280	Crohn's disease
4210	MEFV	HP:0000988	Skin rash
4210	MEFV	HP:0000934	Chondrocalcinosis
4210	MEFV	HP:0040154	Acne inversa
4210	MEFV	HP:0008066	Abnormal blistering of the skin
4210	MEFV	HP:0011675	Arrhythmia
4210	MEFV	HP:0000271	Abnormality of the face
4210	MEFV	HP:0002815	Abnormality of the knee
4210	MEFV	HP:0002829	Arthralgia
4210	MEFV	HP:0001541	Ascites
4210	MEFV	HP:0012378	Fatigue
4210	MEFV	HP:0011034	Amyloidosis
4210	MEFV	HP:0005244	Gastrointestinal infarctions
4210	MEFV	HP:0005214	Intestinal obstruction
4210	MEFV	HP:0006554	Acute hepatic failure
4210	MEFV	HP:0025616	Sterile abscess
4210	MEFV	HP:0001644	Dilated cardiomyopathy
4210	MEFV	HP:0001658	Myocardial infarction
4210	MEFV	HP:0001659	Aortic regurgitation
4210	MEFV	HP:0001653	Mitral regurgitation
4210	MEFV	HP:0001637	Abnormal myocardium morphology
4210	MEFV	HP:0012490	Panniculitis
4210	MEFV	HP:0001733	Pancreatitis
4210	MEFV	HP:0001701	Pericarditis
4210	MEFV	HP:0000488	Retinopathy
4210	MEFV	HP:0000464	Abnormality of the neck
4210	MEFV	HP:0011118	Abnormality of tumor necrosis factor secretion
4210	MEFV	HP:0012450	Chronic constipation
4210	MEFV	HP:0011107	Recurrent aphthous stomatitis
4210	MEFV	HP:0001744	Splenomegaly
4210	MEFV	HP:0000518	Cataract
4210	MEFV	HP:0001824	Weight loss
4210	MEFV	HP:0030350	Erythematous papule
4210	MEFV	HP:0011227	Elevated circulating C-reactive protein concentration
4210	MEFV	HP:0012531	Pain
4212	MEIS2	HP:0009890	High anterior hairline
4212	MEIS2	HP:0001250	Seizure
4212	MEIS2	HP:0001249	Intellectual disability
4212	MEIS2	HP:0001263	Global developmental delay
4212	MEIS2	HP:0002571	Achalasia
4212	MEIS2	HP:0002553	Highly arched eyebrow
4212	MEIS2	HP:0000023	Inguinal hernia
4212	MEIS2	HP:0000006	Autosomal dominant inheritance
4212	MEIS2	HP:0002650	Scoliosis
4212	MEIS2	HP:0000164	Abnormality of the dentition
4212	MEIS2	HP:0000175	Cleft palate
4212	MEIS2	HP:0002721	Immunodeficiency
4212	MEIS2	HP:0002020	Gastroesophageal reflux
4212	MEIS2	HP:0004691	2-3 toe syndactyly
4212	MEIS2	HP:0002003	Large forehead
4212	MEIS2	HP:0033255	Congenital lobar overinflation
4212	MEIS2	HP:0009536	Short 2nd finger
4212	MEIS2	HP:0003577	Congenital onset
4212	MEIS2	HP:0011968	Feeding difficulties
4212	MEIS2	HP:0001061	Acne
4212	MEIS2	HP:0010804	Tented upper lip vermilion
4212	MEIS2	HP:0010055	Broad hallux
4212	MEIS2	HP:0011344	Severe global developmental delay
4212	MEIS2	HP:0011304	Broad thumb
4212	MEIS2	HP:0004322	Short stature
4212	MEIS2	HP:0012725	Cutaneous syndactyly
4212	MEIS2	HP:0000750	Delayed speech and language development
4212	MEIS2	HP:0000717	Autism
4212	MEIS2	HP:0000729	Autistic behavior
4212	MEIS2	HP:0004422	Biparietal narrowing
4212	MEIS2	HP:0009237	Short 5th finger
4212	MEIS2	HP:0045075	Sparse eyebrow
4212	MEIS2	HP:0011682	Perimembranous ventricular septal defect
4212	MEIS2	HP:0000276	Long face
4212	MEIS2	HP:0002808	Kyphosis
4212	MEIS2	HP:0000252	Microcephaly
4212	MEIS2	HP:0000219	Thin upper lip vermilion
4212	MEIS2	HP:0000204	Cleft upper lip
4212	MEIS2	HP:0001601	Laryngomalacia
4212	MEIS2	HP:0000369	Low-set ears
4212	MEIS2	HP:0000341	Narrow forehead
4212	MEIS2	HP:0000343	Long philtrum
4212	MEIS2	HP:0001684	Secundum atrial septal defect
4212	MEIS2	HP:0001680	Coarctation of aorta
4212	MEIS2	HP:0000319	Smooth philtrum
4212	MEIS2	HP:0000322	Short philtrum
4212	MEIS2	HP:0001629	Ventricular septal defect
4212	MEIS2	HP:0000307	Pointed chin
4212	MEIS2	HP:0001631	Atrial septal defect
4212	MEIS2	HP:0000490	Deeply set eye
4212	MEIS2	HP:0000444	Convex nasal ridge
4212	MEIS2	HP:0000426	Prominent nasal bridge
4212	MEIS2	HP:0001852	Sandal gap
4212	MEIS2	HP:0000582	Upslanted palpebral fissure
4212	MEIS2	HP:0011230	Laterally extended eyebrow
4212	MEIS2	HP:0012523	Oral aversion
4214	MAP3K1	HP:0008726	Hypoplasia of the vagina
4214	MAP3K1	HP:0008730	Female external genitalia in individual with 46,XY karyotype
4214	MAP3K1	HP:0008734	Decreased testicular size
4214	MAP3K1	HP:0008736	Hypoplasia of penis
4214	MAP3K1	HP:0008715	Testicular dysgenesis
4214	MAP3K1	HP:0008665	Clitoral hypertrophy
4214	MAP3K1	HP:0000062	Ambiguous genitalia
4214	MAP3K1	HP:0000058	Abnormal labia morphology
4214	MAP3K1	HP:0000044	Hypogonadotropic hypogonadism
4214	MAP3K1	HP:0000045	Abnormality of the scrotum
4214	MAP3K1	HP:0000041	Chordee
4214	MAP3K1	HP:0000037	Male pseudohermaphroditism
4214	MAP3K1	HP:0000054	Micropenis
4214	MAP3K1	HP:0000047	Hypospadias
4214	MAP3K1	HP:0000030	Testicular gonadoblastoma
4214	MAP3K1	HP:0000028	Cryptorchidism
4214	MAP3K1	HP:0000027	Azoospermia
4214	MAP3K1	HP:0002667	Nephroblastoma
4214	MAP3K1	HP:0000006	Autosomal dominant inheritance
4214	MAP3K1	HP:0000142	Abnormal vagina morphology
4214	MAP3K1	HP:0000150	Gonadoblastoma
4214	MAP3K1	HP:0000147	Polycystic ovaries
4214	MAP3K1	HP:0000149	Ovarian gonadoblastoma
4214	MAP3K1	HP:0000133	Gonadal dysgenesis
4214	MAP3K1	HP:0000100	Nephrotic syndrome
4214	MAP3K1	HP:0002750	Delayed skeletal maturation
4214	MAP3K1	HP:0008193	Primary gonadal insufficiency
4214	MAP3K1	HP:0008187	Absence of secondary sex characteristics
4214	MAP3K1	HP:0010464	Streak ovary
4214	MAP3K1	HP:0008232	Elevated circulating follicle stimulating hormone level
4214	MAP3K1	HP:0008214	Decreased serum estradiol
4214	MAP3K1	HP:0002215	Sparse axillary hair
4214	MAP3K1	HP:0002225	Sparse pubic hair
4214	MAP3K1	HP:0100779	Urogenital sinus anomaly
4214	MAP3K1	HP:0011969	Elevated circulating luteinizing hormone level
4214	MAP3K1	HP:0001007	Hirsutism
4214	MAP3K1	HP:0100621	Dysgerminoma
4214	MAP3K1	HP:0030680	Abnormality of cardiovascular system morphology
4214	MAP3K1	HP:0000771	Gynecomastia
4214	MAP3K1	HP:0000786	Primary amenorrhea
4214	MAP3K1	HP:0012870	Vanishing testis
4214	MAP3K1	HP:0000868	Decreased fertility in females
4214	MAP3K1	HP:0000837	Increased circulating gonadotropin level
4214	MAP3K1	HP:0000846	Adrenal insufficiency
4214	MAP3K1	HP:0000815	Hypergonadotropic hypogonadism
4214	MAP3K1	HP:0000812	Abnormal internal genitalia
4214	MAP3K1	HP:0000823	Delayed puberty
4214	MAP3K1	HP:0003251	Male infertility
4214	MAP3K1	HP:0000939	Osteoporosis
4214	MAP3K1	HP:0040171	Decreased serum testosterone concentration
4214	MAP3K1	HP:0012244	Abnormal sex determination
4214	MAP3K1	HP:0012245	Sex reversal
4221	MEN1	HP:0001176	Large hands
4221	MEN1	HP:0002494	Abnormal rapid eye movement sleep
4221	MEN1	HP:0001117	Sudden loss of visual acuity
4221	MEN1	HP:0500167	Hypergastrinemia
4221	MEN1	HP:0001293	Cranial nerve compression
4221	MEN1	HP:0100829	Galactorrhea
4221	MEN1	HP:0001289	Confusion
4221	MEN1	HP:0001254	Lethargy
4221	MEN1	HP:0001250	Seizure
4221	MEN1	HP:0002591	Polyphagia
4221	MEN1	HP:0002588	Duodenal ulcer
4221	MEN1	HP:0001259	Coma
4221	MEN1	HP:0007449	Confetti-like hypopigmented macules
4221	MEN1	HP:0031058	Impairment of activities of daily living
4221	MEN1	HP:0000083	Renal insufficiency
4221	MEN1	HP:0000098	Tall stature
4221	MEN1	HP:0012051	Reactive hypoglycemia
4221	MEN1	HP:0012041	Decreased fertility in males
4221	MEN1	HP:0000044	Hypogonadotropic hypogonadism
4221	MEN1	HP:0000026	Male hypogonadism
4221	MEN1	HP:0002659	Increased susceptibility to fractures
4221	MEN1	HP:0001337	Tremor
4221	MEN1	HP:0000006	Autosomal dominant inheritance
4221	MEN1	HP:0002666	Pheochromocytoma
4221	MEN1	HP:0002615	Hypotension
4221	MEN1	HP:0012197	Insulinoma
4221	MEN1	HP:0000169	Gingival fibromatosis
4221	MEN1	HP:0000141	Amenorrhea
4221	MEN1	HP:0000140	Abnormality of the menstrual cycle
4221	MEN1	HP:0000135	Hypogonadism
4221	MEN1	HP:0002797	Osteolysis
4221	MEN1	HP:0000121	Nephrocalcinosis
4221	MEN1	HP:0000134	Female hypogonadism
4221	MEN1	HP:0002020	Gastroesophageal reflux
4221	MEN1	HP:0002018	Nausea
4221	MEN1	HP:0002019	Constipation
4221	MEN1	HP:0002017	Nausea and vomiting
4221	MEN1	HP:0002027	Abdominal pain
4221	MEN1	HP:0040306	Decreased male libido
4221	MEN1	HP:0002014	Diarrhea
4221	MEN1	HP:0002013	Vomiting
4221	MEN1	HP:0002007	Frontal bossing
4221	MEN1	HP:0003324	Generalized muscle weakness
4221	MEN1	HP:0005978	Type II diabetes mellitus
4221	MEN1	HP:0100522	Thymoma
4221	MEN1	HP:0002044	Zollinger-Ellison syndrome
4221	MEN1	HP:0002039	Anorexia
4221	MEN1	HP:0003388	Easy fatigability
4221	MEN1	HP:0011762	Pituitary thyrotropic cell adenoma
4221	MEN1	HP:0011759	Pituitary gonadotropic cell adenoma
4221	MEN1	HP:0011760	Pituitary growth hormone cell adenoma
4221	MEN1	HP:0011761	Pituitary null cell adenoma
4221	MEN1	HP:0011748	Adrenocorticotropic hormone deficiency
4221	MEN1	HP:0100570	Carcinoid tumor
4221	MEN1	HP:0011734	Central adrenal insufficiency
4221	MEN1	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
4221	MEN1	HP:0040278	Prolactinoma
4221	MEN1	HP:0002150	Hypercalciuria
4221	MEN1	HP:0002148	Hypophosphatemia
4221	MEN1	HP:0008256	Adrenocortical adenoma
4221	MEN1	HP:0008240	Secondary growth hormone deficiency
4221	MEN1	HP:0008245	Pituitary hypothyroidism
4221	MEN1	HP:0010534	Transient global amnesia
4221	MEN1	HP:0008200	Primary hyperparathyroidism
4221	MEN1	HP:0008208	Parathyroid hyperplasia
4221	MEN1	HP:0003401	Paresthesia
4221	MEN1	HP:0008291	Pituitary corticotropic cell adenoma
4221	MEN1	HP:0008283	Fasting hyperinsulinemia
4221	MEN1	HP:0008261	Pancreatic islet cell adenoma
4221	MEN1	HP:0003581	Adult onset
4221	MEN1	HP:0002249	Melena
4221	MEN1	HP:0002248	Hematemesis
4221	MEN1	HP:0003528	Elevated calcitonin
4221	MEN1	HP:0100785	Insomnia
4221	MEN1	HP:0009720	Adenoma sebaceum
4221	MEN1	HP:0007011	Fourth cranial nerve palsy
4221	MEN1	HP:0032044	Decreased vigilance
4221	MEN1	HP:0010615	Angiofibromas
4221	MEN1	HP:0001031	Subcutaneous lipoma
4221	MEN1	HP:0001012	Multiple lipomas
4221	MEN1	HP:0002321	Vertigo
4221	MEN1	HP:0002315	Headache
4221	MEN1	HP:0010832	Abnormality of pain sensation
4221	MEN1	HP:0100633	Esophagitis
4221	MEN1	HP:0100634	Neuroendocrine neoplasm
4221	MEN1	HP:0100631	Neoplasm of the adrenal gland
4221	MEN1	HP:0100639	Erectile dysfunction
4221	MEN1	HP:0007159	Fluctuations in consciousness
4221	MEN1	HP:0030517	Heteronymous hemianopia
4221	MEN1	HP:0030521	Bitemporal hemianopia
4221	MEN1	HP:0006824	Cranial nerve paralysis
4221	MEN1	HP:0006897	Abducens palsy
4221	MEN1	HP:0001962	Palpitations
4221	MEN1	HP:0000651	Diplopia
4221	MEN1	HP:0000618	Blindness
4221	MEN1	HP:0001944	Dehydration
4221	MEN1	HP:0001943	Hypoglycemia
4221	MEN1	HP:0001958	Nonketotic hypoglycemia
4221	MEN1	HP:0011362	Abnormal hair quantity
4221	MEN1	HP:0001988	Recurrent hypoglycemia
4221	MEN1	HP:0004324	Increased body weight
4221	MEN1	HP:0005605	Large cafe-au-lait macules with irregular margins
4221	MEN1	HP:0005616	Accelerated skeletal maturation
4221	MEN1	HP:0003072	Hypercalcemia
4221	MEN1	HP:0000802	Impotence
4221	MEN1	HP:0004398	Peptic ulcer
4221	MEN1	HP:0004372	Reduced consciousness/confusion
4221	MEN1	HP:0004349	Reduced bone mineral density
4221	MEN1	HP:0011407	Proportionate tall stature
4221	MEN1	HP:0000771	Gynecomastia
4221	MEN1	HP:0000739	Anxiety
4221	MEN1	HP:0000736	Short attention span
4221	MEN1	HP:0000716	Depression
4221	MEN1	HP:0000708	Atypical behavior
4221	MEN1	HP:0011458	Abdominal symptom
4221	MEN1	HP:0011446	Abnormality of higher mental function
4221	MEN1	HP:0000787	Nephrolithiasis
4221	MEN1	HP:0003109	Hyperphosphaturia
4221	MEN1	HP:0003118	Increased circulating cortisol level
4221	MEN1	HP:0003165	Elevated circulating parathyroid hormone level
4221	MEN1	HP:0003144	Increased serum serotonin
4221	MEN1	HP:0000858	Irregular menstruation
4221	MEN1	HP:0000854	Thyroid adenoma
4221	MEN1	HP:0000853	Goiter
4221	MEN1	HP:0000870	Increased circulating prolactin concentration
4221	MEN1	HP:0000868	Decreased fertility in females
4221	MEN1	HP:0000830	Anterior hypopituitarism
4221	MEN1	HP:0000849	Adrenocortical abnormality
4221	MEN1	HP:0000845	Elevated circulating growth hormone concentration
4221	MEN1	HP:0000842	Hyperinsulinemia
4221	MEN1	HP:0000825	Hyperinsulinemic hypoglycemia
4221	MEN1	HP:0000822	Hypertension
4221	MEN1	HP:0000823	Delayed puberty
4221	MEN1	HP:0040085	Abnormal circulating aldosterone
4221	MEN1	HP:0000980	Pallor
4221	MEN1	HP:0000975	Hyperhidrosis
4221	MEN1	HP:0000957	Cafe-au-lait spot
4221	MEN1	HP:0000939	Osteoporosis
4221	MEN1	HP:0000938	Osteopenia
4221	MEN1	HP:0000934	Chondrocalcinosis
4221	MEN1	HP:0040160	Generalized osteoporosis
4221	MEN1	HP:0000280	Coarse facial features
4221	MEN1	HP:0012246	Oculomotor nerve palsy
4221	MEN1	HP:0006476	Abnormality of the pancreatic islet cells
4221	MEN1	HP:0012232	Shortened QT interval
4221	MEN1	HP:0002897	Parathyroid adenoma
4221	MEN1	HP:0001579	Primary hypercortisolism
4221	MEN1	HP:0002894	Neoplasm of the pancreas
4221	MEN1	HP:0002893	Pituitary adenoma
4221	MEN1	HP:0002890	Thyroid carcinoma
4221	MEN1	HP:0002888	Ependymoma
4221	MEN1	HP:0030018	Decreased female libido
4221	MEN1	HP:0030016	Dyspareunia
4221	MEN1	HP:0002858	Meningioma
4221	MEN1	HP:0012378	Fatigue
4221	MEN1	HP:0012377	Hemianopia
4221	MEN1	HP:0002920	Decreased circulating ACTH level
4221	MEN1	HP:0000364	Hearing abnormality
4221	MEN1	HP:0001639	Hypertrophic cardiomyopathy
4221	MEN1	HP:0000303	Mandibular prognathia
4221	MEN1	HP:0007942	Internal ophthalmoplegia
4221	MEN1	HP:0011151	Atypical absence status epilepticus
4221	MEN1	HP:0001712	Left ventricular hypertrophy
4221	MEN1	HP:0030269	Increased circulating insulin-like growth factor 1 concentration
4221	MEN1	HP:0012411	Premature pubarche
4221	MEN1	HP:0006744	Adrenocortical carcinoma
4221	MEN1	HP:0030405	Pancreatic endocrine tumor
4221	MEN1	HP:0030404	Glucagonoma
4221	MEN1	HP:0006723	Intestinal carcinoid
4221	MEN1	HP:0030445	Pulmonary carcinoid tumor
4221	MEN1	HP:0006780	Parathyroid carcinoma
4221	MEN1	HP:0006767	Pituitary prolactin cell adenoma
4221	MEN1	HP:0012503	Abnormality of the pituitary gland
4221	MEN1	HP:0000529	Progressive visual loss
4221	MEN1	HP:0001824	Weight loss
4221	MEN1	HP:0000508	Ptosis
4221	MEN1	HP:0001833	Long foot
4221	MEN1	HP:0000504	Abnormality of vision
4222	MEOX1	HP:0002414	Spina bifida
4222	MEOX1	HP:0001291	Abnormal cranial nerve morphology
4222	MEOX1	HP:0008678	Renal hypoplasia/aplasia
4222	MEOX1	HP:0000007	Autosomal recessive inheritance
4222	MEOX1	HP:0002650	Scoliosis
4222	MEOX1	HP:0000175	Cleft palate
4222	MEOX1	HP:0002023	Anal atresia
4222	MEOX1	HP:0005988	Congenital muscular torticollis
4222	MEOX1	HP:0100543	Cognitive impairment
4222	MEOX1	HP:0004602	Cervical C2/C3 vertebral fusion
4222	MEOX1	HP:0002162	Low posterior hairline
4222	MEOX1	HP:0005640	Abnormal vertebral segmentation and fusion
4222	MEOX1	HP:0030680	Abnormality of cardiovascular system morphology
4222	MEOX1	HP:0004397	Ectopic anus
4222	MEOX1	HP:0004374	Hemiplegia/hemiparesis
4222	MEOX1	HP:0003043	Abnormal shoulder morphology
4222	MEOX1	HP:0000772	Abnormal rib morphology
4222	MEOX1	HP:0000912	Sprengel anomaly
4222	MEOX1	HP:0000925	Abnormality of the vertebral column
4222	MEOX1	HP:0005107	Abnormal sacrum morphology
4222	MEOX1	HP:0000204	Cleft upper lip
4222	MEOX1	HP:0000377	Abnormal pinna morphology
4222	MEOX1	HP:0002949	Fused cervical vertebrae
4222	MEOX1	HP:0000365	Hearing impairment
4222	MEOX1	HP:0000324	Facial asymmetry
4222	MEOX1	HP:0001629	Ventricular septal defect
4222	MEOX1	HP:0000407	Sensorineural hearing impairment
4222	MEOX1	HP:0000405	Conductive hearing impairment
4222	MEOX1	HP:0000470	Short neck
4222	MEOX1	HP:0000466	Limited neck range of motion
4222	MEOX1	HP:0000465	Webbed neck
4233	MET	HP:0006077	Absent proximal finger flexion creases
4233	MET	HP:0003829	Typified by incomplete penetrance
4233	MET	HP:0001395	Hepatic fibrosis
4233	MET	HP:0000007	Autosomal recessive inheritance
4233	MET	HP:0000006	Autosomal dominant inheritance
4233	MET	HP:0002605	Hepatic necrosis
4233	MET	HP:0410019	Epigastric pain
4233	MET	HP:0006254	Elevated circulating alpha-fetoprotein concentration
4233	MET	HP:0001428	Somatic mutation
4233	MET	HP:0002756	Pathologic fracture
4233	MET	HP:0001402	Hepatocellular carcinoma
4233	MET	HP:0001413	Micronodular cirrhosis
4233	MET	HP:0002027	Abdominal pain
4233	MET	HP:0002013	Vomiting
4233	MET	HP:0003577	Congenital onset
4233	MET	HP:0002240	Hepatomegaly
4233	MET	HP:0003038	Fibular hypoplasia
4233	MET	HP:0000767	Pectus excavatum
4233	MET	HP:0005864	Pseudoarthrosis
4233	MET	HP:0006394	Limited pronation/supination of forearm
4233	MET	HP:0012378	Fatigue
4233	MET	HP:0012385	Camptodactyly
4233	MET	HP:0006572	Subacute progressive viral hepatitis
4233	MET	HP:0000407	Sensorineural hearing impairment
4233	MET	HP:0030242	Portal vein thrombosis
4233	MET	HP:0001762	Talipes equinovarus
4233	MET	HP:0006766	Papillary renal cell carcinoma
4233	MET	HP:0001848	Calcaneovalgus deformity
4233	MET	HP:0001840	Metatarsus adductus
4233	MET	HP:0001838	Rocker bottom foot
4247	MGAT2	HP:0001156	Brachydactyly
4247	MGAT2	HP:0010864	Intellectual disability, severe
4247	MGAT2	HP:0500173	Reflex asystolic syncope
4247	MGAT2	HP:0001290	Generalized hypotonia
4247	MGAT2	HP:0001276	Hypertonia
4247	MGAT2	HP:0001250	Seizure
4247	MGAT2	HP:0001252	Hypotonia
4247	MGAT2	HP:0002578	Gastroparesis
4247	MGAT2	HP:0001263	Global developmental delay
4247	MGAT2	HP:0002557	Hypoplastic nipples
4247	MGAT2	HP:0010990	Abnormality of the common coagulation pathway
4247	MGAT2	HP:0002521	Hypsarrhythmia
4247	MGAT2	HP:0008897	Postnatal growth retardation
4247	MGAT2	HP:0007466	Midfrontal capillary hemangioma
4247	MGAT2	HP:0002673	Coxa valga
4247	MGAT2	HP:0000007	Autosomal recessive inheritance
4247	MGAT2	HP:0002650	Scoliosis
4247	MGAT2	HP:0001321	Cerebellar hypoplasia
4247	MGAT2	HP:0012171	Stereotypical hand wringing
4247	MGAT2	HP:0000194	Open mouth
4247	MGAT2	HP:0000164	Abnormality of the dentition
4247	MGAT2	HP:0000154	Wide mouth
4247	MGAT2	HP:0002020	Gastroesophageal reflux
4247	MGAT2	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
4247	MGAT2	HP:0002098	Respiratory distress
4247	MGAT2	HP:0003423	Thoracolumbar kyphoscoliosis
4247	MGAT2	HP:0009623	Proximal placement of thumb
4247	MGAT2	HP:0011858	Reduced factor IX activity
4247	MGAT2	HP:0003540	Impaired platelet aggregation
4247	MGAT2	HP:0200117	Recurrent upper and lower respiratory tract infections
4247	MGAT2	HP:0011968	Feeding difficulties
4247	MGAT2	HP:0004841	Reduced factor XII activity
4247	MGAT2	HP:0001007	Hirsutism
4247	MGAT2	HP:0002317	Unsteady gait
4247	MGAT2	HP:0003655	Reduced level of N-acetylglucosaminyltransferase II
4247	MGAT2	HP:0009830	Peripheral neuropathy
4247	MGAT2	HP:0010808	Protruding tongue
4247	MGAT2	HP:0009765	Low hanging columella
4247	MGAT2	HP:0006887	Intellectual disability, progressive
4247	MGAT2	HP:0001965	Abnormal scalp morphology
4247	MGAT2	HP:0001976	Reduced antithrombin III activity
4247	MGAT2	HP:0001929	Reduced factor XI activity
4247	MGAT2	HP:0000699	Diastema
4247	MGAT2	HP:0000678	Dental crowding
4247	MGAT2	HP:0001999	Abnormal facial shape
4247	MGAT2	HP:0004322	Short stature
4247	MGAT2	HP:0004315	Decreased circulating IgG level
4247	MGAT2	HP:0004313	Decreased circulating antibody level
4247	MGAT2	HP:0000767	Pectus excavatum
4247	MGAT2	HP:0000742	Self-mutilation
4247	MGAT2	HP:0000718	Aggressive behavior
4247	MGAT2	HP:0011471	Gastrostomy tube feeding in infancy
4247	MGAT2	HP:0003100	Slender long bone
4247	MGAT2	HP:0003186	Inverted nipples
4247	MGAT2	HP:0003160	Abnormal isoelectric focusing of serum transferrin
4247	MGAT2	HP:0000818	Abnormality of the endocrine system
4247	MGAT2	HP:0000938	Osteopenia
4247	MGAT2	HP:0008070	Sparse hair
4247	MGAT2	HP:0011675	Arrhythmia
4247	MGAT2	HP:0000278	Retrognathia
4247	MGAT2	HP:0000256	Macrocephaly
4247	MGAT2	HP:0000268	Dolichocephaly
4247	MGAT2	HP:0002808	Kyphosis
4247	MGAT2	HP:0001572	Macrodontia
4247	MGAT2	HP:0000253	Progressive microcephaly
4247	MGAT2	HP:0000252	Microcephaly
4247	MGAT2	HP:0000248	Brachycephaly
4247	MGAT2	HP:0001547	Abnormal rib cage morphology
4247	MGAT2	HP:0000212	Gingival overgrowth
4247	MGAT2	HP:0000233	Thin vermilion border
4247	MGAT2	HP:0000232	Everted lower lip vermilion
4247	MGAT2	HP:0001508	Failure to thrive
4247	MGAT2	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
4247	MGAT2	HP:0000395	Prominent antihelix
4247	MGAT2	HP:0000363	Abnormal earlobe morphology
4247	MGAT2	HP:0000358	Posteriorly rotated ears
4247	MGAT2	HP:0000368	Low-set, posteriorly rotated ears
4247	MGAT2	HP:0012301	Type II transferrin isoform profile
4247	MGAT2	HP:0000316	Hypertelorism
4247	MGAT2	HP:0001643	Patent ductus arteriosus
4247	MGAT2	HP:0001629	Ventricular septal defect
4247	MGAT2	HP:0001627	Abnormal heart morphology
4247	MGAT2	HP:0005387	Combined immunodeficiency
4247	MGAT2	HP:0000407	Sensorineural hearing impairment
4247	MGAT2	HP:0000400	Macrotia
4247	MGAT2	HP:0012469	Infantile spasms
4247	MGAT2	HP:0000494	Downslanted palpebral fissures
4247	MGAT2	HP:0012444	Brain atrophy
4247	MGAT2	HP:0001789	Hydrops fetalis
4247	MGAT2	HP:0000470	Short neck
4247	MGAT2	HP:0001763	Pes planus
4247	MGAT2	HP:0000444	Convex nasal ridge
4247	MGAT2	HP:0000426	Prominent nasal bridge
4247	MGAT2	HP:0000527	Long eyelashes
4247	MGAT2	HP:0001892	Abnormal bleeding
4247	MGAT2	HP:0000574	Thick eyebrow
4254	KITLG	HP:0001100	Heterochromia iridis
4254	KITLG	HP:0000077	Abnormality of the kidney
4254	KITLG	HP:0007505	Progressive hyperpigmentation
4254	KITLG	HP:0000007	Autosomal recessive inheritance
4254	KITLG	HP:0000006	Autosomal dominant inheritance
4254	KITLG	HP:0003593	Infantile onset
4254	KITLG	HP:0003577	Congenital onset
4254	KITLG	HP:0002251	Aganglionic megacolon
4254	KITLG	HP:0002216	Premature graying of hair
4254	KITLG	HP:0002211	White forelock
4254	KITLG	HP:0001053	Hypopigmented skin patches
4254	KITLG	HP:0001034	Hypermelanotic macule
4254	KITLG	HP:0001045	Vitiligo
4254	KITLG	HP:0001010	Hypopigmentation of the skin
4254	KITLG	HP:0001003	Multiple lentigines
4254	KITLG	HP:0008527	Congenital sensorineural hearing impairment
4254	KITLG	HP:0005599	Hypopigmentation of hair
4254	KITLG	HP:0000635	Blue irides
4254	KITLG	HP:0011364	White hair
4254	KITLG	HP:0004414	Abnormality of the pulmonary artery
4254	KITLG	HP:0000957	Cafe-au-lait spot
4254	KITLG	HP:0000962	Hyperkeratosis
4254	KITLG	HP:0000365	Hearing impairment
4254	KITLG	HP:0000407	Sensorineural hearing impairment
4254	KITLG	HP:0000506	Telecanthus
4254	KITLG	HP:0000508	Ptosis
4255	MGMT	HP:0003764	Nevus
4255	MGMT	HP:0001480	Freckling
4255	MGMT	HP:0002071	Abnormality of extrapyramidal motor function
4255	MGMT	HP:0100763	Abnormality of the lymphatic system
4255	MGMT	HP:0100013	Neoplasm of the breast
4255	MGMT	HP:0000958	Dry skin
4255	MGMT	HP:0001595	Abnormal hair morphology
4255	MGMT	HP:0002894	Neoplasm of the pancreas
4255	MGMT	HP:0002861	Melanoma
4255	MGMT	HP:0000488	Retinopathy
4255	MGMT	HP:0006753	Neoplasm of the stomach
4256	MGP	HP:0009882	Short distal phalanx of finger
4256	MGP	HP:0001256	Intellectual disability, mild
4256	MGP	HP:0001250	Seizure
4256	MGP	HP:0001263	Global developmental delay
4256	MGP	HP:0006118	Shortening of all distal phalanges of the fingers
4256	MGP	HP:0008747	Cartilaginous ossification of larynx
4256	MGP	HP:0002514	Cerebral calcification
4256	MGP	HP:0006140	Premature fusion of phalangeal epiphyses
4256	MGP	HP:0000007	Autosomal recessive inheritance
4256	MGP	HP:0002787	Tracheal calcification
4256	MGP	HP:0002002	Deep philtrum
4256	MGP	HP:0011800	Midface retrusion
4256	MGP	HP:0002097	Emphysema
4256	MGP	HP:0002092	Pulmonary arterial hypertension
4256	MGP	HP:0100593	Calcification of cartilage
4256	MGP	HP:0002205	Recurrent respiratory infections
4256	MGP	HP:0010655	Epiphyseal stippling
4256	MGP	HP:0001027	Soft, doughy skin
4256	MGP	HP:0100682	Tracheal atresia
4256	MGP	HP:0009778	Short thumb
4256	MGP	HP:0004971	Pulmonary artery hypoplasia
4256	MGP	HP:0004969	Peripheral pulmonary artery stenosis
4256	MGP	HP:0000648	Optic atrophy
4256	MGP	HP:0004322	Short stature
4256	MGP	HP:0004334	Dermal atrophy
4256	MGP	HP:0010109	Short hallux
4256	MGP	HP:0004415	Pulmonary artery stenosis
4256	MGP	HP:0000822	Hypertension
4256	MGP	HP:0001596	Alopecia
4256	MGP	HP:0000276	Long face
4256	MGP	HP:0000272	Malar flattening
4256	MGP	HP:0005103	Calcification of the auricular cartilage
4256	MGP	HP:0000246	Sinusitis
4256	MGP	HP:0001507	Growth abnormality
4256	MGP	HP:0002837	Recurrent bronchitis
4256	MGP	HP:0005268	Miscarriage
4256	MGP	HP:0006536	Airway obstruction
4256	MGP	HP:0000365	Hearing impairment
4256	MGP	HP:0000340	Sloping forehead
4256	MGP	HP:0001642	Pulmonic stenosis
4256	MGP	HP:0001629	Ventricular septal defect
4256	MGP	HP:0006646	Costal cartilage calcification
4256	MGP	HP:0000403	Recurrent otitis media
4256	MGP	HP:0000400	Macrotia
4256	MGP	HP:0005275	Cartilaginous ossification of nose
4256	MGP	HP:0005280	Depressed nasal bridge
4256	MGP	HP:0011109	Chronic sinusitis
4256	MGP	HP:0011108	Recurrent sinusitis
4256	MGP	HP:0000445	Wide nose
4256	MGP	HP:0000431	Wide nasal bridge
4256	MGP	HP:0000430	Underdeveloped nasal alae
4261	CIITA	HP:0002583	Colitis
4261	CIITA	HP:0001260	Dysarthria
4261	CIITA	HP:0025347	Decreased circulating beta-2-microglobulin level
4261	CIITA	HP:0001370	Rheumatoid arthritis
4261	CIITA	HP:0001386	Joint swelling
4261	CIITA	HP:0001387	Joint stiffness
4261	CIITA	HP:0006150	Swan neck-like deformities of the fingers
4261	CIITA	HP:0000010	Recurrent urinary tract infections
4261	CIITA	HP:0000007	Autosomal recessive inheritance
4261	CIITA	HP:0002633	Vasculitis
4261	CIITA	HP:0006252	Interphalangeal joint erosions
4261	CIITA	HP:0002783	Recurrent lower respiratory tract infections
4261	CIITA	HP:0002788	Recurrent upper respiratory tract infections
4261	CIITA	HP:0002718	Recurrent bacterial infections
4261	CIITA	HP:0002728	Chronic mucocutaneous candidiasis
4261	CIITA	HP:0002726	Recurrent Staphylococcus aureus infections
4261	CIITA	HP:0002024	Malabsorption
4261	CIITA	HP:0030991	Sclerosing cholangitis
4261	CIITA	HP:0002014	Diarrhea
4261	CIITA	HP:0002066	Gait ataxia
4261	CIITA	HP:0004798	Recurrent infection of the gastrointestinal tract
4261	CIITA	HP:0003565	Elevated erythrocyte sedimentation rate
4261	CIITA	HP:0002205	Recurrent respiratory infections
4261	CIITA	HP:0200124	Chronic hepatitis due to cryptosporidium infection
4261	CIITA	HP:0007041	Chronic lymphocytic meningitis
4261	CIITA	HP:0002383	Infectious encephalitis
4261	CIITA	HP:0001080	Biliary tract abnormality
4261	CIITA	HP:0001973	Autoimmune thrombocytopenia
4261	CIITA	HP:0001945	Fever
4261	CIITA	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
4261	CIITA	HP:0001999	Abnormal facial shape
4261	CIITA	HP:0004313	Decreased circulating antibody level
4261	CIITA	HP:0004385	Protracted diarrhea
4261	CIITA	HP:0011473	Villous atrophy
4261	CIITA	HP:0005764	Polyarticular arthritis
4261	CIITA	HP:0004432	Agammaglobulinemia
4261	CIITA	HP:0004429	Recurrent viral infections
4261	CIITA	HP:0003139	Panhypogammaglobulinemia
4261	CIITA	HP:0000988	Skin rash
4261	CIITA	HP:0033034	Anti-citrullinated protein antibody positivity
4261	CIITA	HP:0012276	Digital flexor tenosynovitis
4261	CIITA	HP:0031390	Reduced MHC II surface expression
4261	CIITA	HP:0031394	Abnormal CD4:CD8 ratio
4261	CIITA	HP:0002829	Arthralgia
4261	CIITA	HP:0000246	Sinusitis
4261	CIITA	HP:0001508	Failure to thrive
4261	CIITA	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
4261	CIITA	HP:0002841	Recurrent fungal infections
4261	CIITA	HP:0012378	Fatigue
4261	CIITA	HP:0012384	Rhinitis
4261	CIITA	HP:0006562	Viral hepatitis
4261	CIITA	HP:0002923	Rheumatoid factor positive
4261	CIITA	HP:0000371	Acute otitis media
4261	CIITA	HP:0030151	Cholangitis
4261	CIITA	HP:0002960	Autoimmunity
4261	CIITA	HP:0002965	Cutaneous anergy
4261	CIITA	HP:0005386	Recurrent protozoan infections
4261	CIITA	HP:0005354	Lack of T cell function
4261	CIITA	HP:0005353	Recurrent herpes
4261	CIITA	HP:0005368	Abnormality of humoral immunity
4261	CIITA	HP:0005407	Decreased proportion of CD4-positive helper T cells
4261	CIITA	HP:0005403	T lymphocytopenia
4261	CIITA	HP:0005401	Recurrent candida infections
4261	CIITA	HP:0001824	Weight loss
4261	CIITA	HP:0011227	Elevated circulating C-reactive protein concentration
4261	CIITA	HP:0001890	Autoimmune hemolytic anemia
4261	CIITA	HP:0001876	Pancytopenia
4261	CIITA	HP:0001875	Neutropenia
4281	MID1	HP:0002465	Poor speech
4281	MID1	HP:0010957	Congenital posterior urethral valve
4281	MID1	HP:0001274	Agenesis of corpus callosum
4281	MID1	HP:0001273	Abnormal corpus callosum morphology
4281	MID1	HP:0001256	Intellectual disability, mild
4281	MID1	HP:0001249	Intellectual disability
4281	MID1	HP:0001263	Global developmental delay
4281	MID1	HP:0002575	Tracheoesophageal fistula
4281	MID1	HP:0008751	Laryngeal cleft
4281	MID1	HP:0100879	Enlarged ovaries
4281	MID1	HP:0000076	Vesicoureteral reflux
4281	MID1	HP:0000079	Abnormality of the urinary system
4281	MID1	HP:0000054	Micropenis
4281	MID1	HP:0000048	Bifid scrotum
4281	MID1	HP:0000047	Hypospadias
4281	MID1	HP:0000049	Shawl scrotum
4281	MID1	HP:0000023	Inguinal hernia
4281	MID1	HP:0001363	Craniosynostosis
4281	MID1	HP:0000028	Cryptorchidism
4281	MID1	HP:0008872	Feeding difficulties in infancy
4281	MID1	HP:0001328	Specific learning disability
4281	MID1	HP:0001305	Dandy-Walker malformation
4281	MID1	HP:0001320	Cerebellar vermis hypoplasia
4281	MID1	HP:0002616	Aortic root aneurysm
4281	MID1	HP:0000175	Cleft palate
4281	MID1	HP:0410030	Cleft lip
4281	MID1	HP:0006315	Solitary median maxillary central incisor
4281	MID1	HP:0002779	Tracheomalacia
4281	MID1	HP:0000119	Abnormality of the genitourinary system
4281	MID1	HP:0025407	Rectourethral fistula
4281	MID1	HP:0000126	Hydronephrosis
4281	MID1	HP:0001419	X-linked recessive inheritance
4281	MID1	HP:0002023	Anal atresia
4281	MID1	HP:0002020	Gastroesophageal reflux
4281	MID1	HP:0002015	Dysphagia
4281	MID1	HP:0002007	Frontal bossing
4281	MID1	HP:0002079	Hypoplasia of the corpus callosum
4281	MID1	HP:0002119	Ventriculomegaly
4281	MID1	HP:0002100	Recurrent aspiration pneumonia
4281	MID1	HP:0003422	Vertebral segmentation defect
4281	MID1	HP:0010518	Thyroglossal cyst
4281	MID1	HP:0003577	Congenital onset
4281	MID1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
4281	MID1	HP:0000695	Natal tooth
4281	MID1	HP:0000668	Hypodontia
4281	MID1	HP:0001999	Abnormal facial shape
4281	MID1	HP:0004322	Short stature
4281	MID1	HP:0004397	Ectopic anus
4281	MID1	HP:0031936	Delayed ability to walk
4281	MID1	HP:0000736	Short attention span
4281	MID1	HP:0000729	Autistic behavior
4281	MID1	HP:0000776	Congenital diaphragmatic hernia
4281	MID1	HP:0012758	Neurodevelopmental delay
4281	MID1	HP:0004467	Preauricular pit
4281	MID1	HP:0100333	Unilateral cleft lip
4281	MID1	HP:0000813	Bicornuate uterus
4281	MID1	HP:0010296	Ankyloglossia
4281	MID1	HP:0010307	Stridor
4281	MID1	HP:0000260	Wide anterior fontanel
4281	MID1	HP:0000239	Large fontanelles
4281	MID1	HP:0000252	Microcephaly
4281	MID1	HP:0000219	Thin upper lip vermilion
4281	MID1	HP:0000218	High palate
4281	MID1	HP:0001537	Umbilical hernia
4281	MID1	HP:0001539	Omphalocele
4281	MID1	HP:0000204	Cleft upper lip
4281	MID1	HP:0002835	Aspiration
4281	MID1	HP:0001510	Growth delay
4281	MID1	HP:0001609	Hoarse voice
4281	MID1	HP:0000365	Hearing impairment
4281	MID1	HP:0000358	Posteriorly rotated ears
4281	MID1	HP:0000369	Low-set ears
4281	MID1	HP:0000343	Long philtrum
4281	MID1	HP:0001680	Coarctation of aorta
4281	MID1	HP:0000349	Widow's peak
4281	MID1	HP:0000347	Micrognathia
4281	MID1	HP:0000319	Smooth philtrum
4281	MID1	HP:0000316	Hypertelorism
4281	MID1	HP:0001643	Patent ductus arteriosus
4281	MID1	HP:0001655	Patent foramen ovale
4281	MID1	HP:0001629	Ventricular septal defect
4281	MID1	HP:0001627	Abnormal heart morphology
4281	MID1	HP:0001631	Atrial septal defect
4281	MID1	HP:0005301	Persistent left superior vena cava
4281	MID1	HP:0001739	Abnormal nasopharynx morphology
4281	MID1	HP:0000486	Strabismus
4281	MID1	HP:0000494	Downslanted palpebral fissures
4281	MID1	HP:0000463	Anteverted nares
4281	MID1	HP:0012443	Abnormality of brain morphology
4281	MID1	HP:0000431	Wide nasal bridge
4281	MID1	HP:0005487	Prominent metopic ridge
4281	MID1	HP:0006783	Posterior pharyngeal cleft
4281	MID1	HP:0000506	Telecanthus
4281	MID1	HP:0000508	Ptosis
4281	MID1	HP:0011220	Prominent forehead
4281	MID1	HP:0000539	Abnormality of refraction
4282	MIF	HP:0032261	Nontuberculous mycobacterial pulmonary infection
4282	MIF	HP:0002570	Steatorrhea
4282	MIF	HP:0032342	Reduced forced expiratory volume in one second
4282	MIF	HP:0001392	Abnormality of the liver
4282	MIF	HP:0001394	Cirrhosis
4282	MIF	HP:0001386	Joint swelling
4282	MIF	HP:0012122	Anterior uveitis
4282	MIF	HP:0002716	Lymphadenopathy
4282	MIF	HP:0002726	Recurrent Staphylococcus aureus infections
4282	MIF	HP:0002724	Recurrent Aspergillus infections
4282	MIF	HP:0002024	Malabsorption
4282	MIF	HP:0002020	Gastroesophageal reflux
4282	MIF	HP:0002035	Rectal prolapse
4282	MIF	HP:0002027	Abdominal pain
4282	MIF	HP:0002099	Asthma
4282	MIF	HP:0100582	Nasal polyposis
4282	MIF	HP:0002110	Bronchiectasis
4282	MIF	HP:0002107	Pneumothorax
4282	MIF	HP:0002105	Hemoptysis
4282	MIF	HP:0002240	Hepatomegaly
4282	MIF	HP:0003565	Elevated erythrocyte sedimentation rate
4282	MIF	HP:0002202	Pleural effusion
4282	MIF	HP:0002205	Recurrent respiratory infections
4282	MIF	HP:0001945	Fever
4282	MIF	HP:0005681	Juvenile rheumatoid arthritis
4282	MIF	HP:0000739	Anxiety
4282	MIF	HP:0000716	Depression
4282	MIF	HP:0000787	Nephrolithiasis
4282	MIF	HP:0004401	Meconium ileus
4282	MIF	HP:0012873	Absent vas deferens
4282	MIF	HP:0045082	Decreased body mass index
4282	MIF	HP:0000988	Skin rash
4282	MIF	HP:0000939	Osteoporosis
4282	MIF	HP:0000938	Osteopenia
4282	MIF	HP:0012236	Elevated sweat chloride
4282	MIF	HP:0002829	Arthralgia
4282	MIF	HP:0000246	Sinusitis
4282	MIF	HP:0001508	Failure to thrive
4282	MIF	HP:0002842	Recurrent Burkholderia cepacia infections
4282	MIF	HP:0006536	Airway obstruction
4282	MIF	HP:0002910	Elevated hepatic transaminase
4282	MIF	HP:0000365	Hearing impairment
4282	MIF	HP:0002960	Autoimmunity
4282	MIF	HP:0005376	Recurrent Haemophilus influenzae infections
4282	MIF	HP:0001738	Exocrine pancreatic insufficiency
4282	MIF	HP:0001701	Pericarditis
4282	MIF	HP:0001744	Splenomegaly
4282	MIF	HP:0011227	Elevated circulating C-reactive protein concentration
4284	MIP	HP:0000006	Autosomal dominant inheritance
4284	MIP	HP:0003577	Congenital onset
4284	MIP	HP:0100018	Nuclear cataract
4284	MIP	HP:0100019	Cortical cataract
4284	MIP	HP:0007971	Lamellar cataract
4285	MIPEP	HP:0001290	Generalized hypotonia
4285	MIPEP	HP:0001276	Hypertonia
4285	MIPEP	HP:0001250	Seizure
4285	MIPEP	HP:0001263	Global developmental delay
4285	MIPEP	HP:0000007	Autosomal recessive inheritance
4285	MIPEP	HP:0003348	Hyperalaninemia
4285	MIPEP	HP:0002151	Increased serum lactate
4285	MIPEP	HP:0003593	Infantile onset
4285	MIPEP	HP:0011968	Feeding difficulties
4285	MIPEP	HP:0030682	Left ventricular noncompaction
4285	MIPEP	HP:0003128	Lactic acidosis
4285	MIPEP	HP:0000252	Microcephaly
4285	MIPEP	HP:0001508	Failure to thrive
4285	MIPEP	HP:0001639	Hypertrophic cardiomyopathy
4285	MIPEP	HP:0000518	Cataract
4286	MITF	HP:0001103	Abnormal macular morphology
4286	MITF	HP:0001100	Heterochromia iridis
4286	MITF	HP:0003764	Nevus
4286	MITF	HP:0001290	Generalized hypotonia
4286	MITF	HP:0007443	Partial albinism
4286	MITF	HP:0012056	Cutaneous melanoma
4286	MITF	HP:0000077	Abnormality of the kidney
4286	MITF	HP:0007513	Generalized hypopigmentation
4286	MITF	HP:0001341	Olfactory lobe agenesis
4286	MITF	HP:0000007	Autosomal recessive inheritance
4286	MITF	HP:0000006	Autosomal dominant inheritance
4286	MITF	HP:0001480	Freckling
4286	MITF	HP:0007587	Numerous pigmented freckles
4286	MITF	HP:0002019	Constipation
4286	MITF	HP:0002027	Abdominal pain
4286	MITF	HP:0002007	Frontal bossing
4286	MITF	HP:0002071	Abnormality of extrapyramidal motor function
4286	MITF	HP:0003577	Congenital onset
4286	MITF	HP:0002242	Abnormal intestine morphology
4286	MITF	HP:0002251	Aganglionic megacolon
4286	MITF	HP:0002216	Premature graying of hair
4286	MITF	HP:0002227	White eyelashes
4286	MITF	HP:0002226	White eyebrow
4286	MITF	HP:0002211	White forelock
4286	MITF	HP:0100763	Abnormality of the lymphatic system
4286	MITF	HP:0001053	Hypopigmented skin patches
4286	MITF	HP:0001010	Hypopigmentation of the skin
4286	MITF	HP:0001022	Albinism
4286	MITF	HP:0001000	Abnormality of skin pigmentation
4286	MITF	HP:0008527	Congenital sensorineural hearing impairment
4286	MITF	HP:0005599	Hypopigmentation of hair
4286	MITF	HP:0000635	Blue irides
4286	MITF	HP:0000664	Synophrys
4286	MITF	HP:0100013	Neoplasm of the breast
4286	MITF	HP:0004414	Abnormality of the pulmonary artery
4286	MITF	HP:0004467	Preauricular pit
4286	MITF	HP:0000958	Dry skin
4286	MITF	HP:0007703	Abnormality of retinal pigmentation
4286	MITF	HP:0001595	Abnormal hair morphology
4286	MITF	HP:0000256	Macrocephaly
4286	MITF	HP:0002894	Neoplasm of the pancreas
4286	MITF	HP:0002861	Melanoma
4286	MITF	HP:0007894	Hypopigmentation of the fundus
4286	MITF	HP:0005214	Intestinal obstruction
4286	MITF	HP:0000365	Hearing impairment
4286	MITF	HP:0000358	Posteriorly rotated ears
4286	MITF	HP:0000366	Abnormality of the nose
4286	MITF	HP:0011002	Osteopetrosis
4286	MITF	HP:0000347	Micrognathia
4286	MITF	HP:0007990	Hypoplastic iris stroma
4286	MITF	HP:0000407	Sensorineural hearing impairment
4286	MITF	HP:0000478	Abnormality of the eye
4286	MITF	HP:0000488	Retinopathy
4286	MITF	HP:0000431	Wide nasal bridge
4286	MITF	HP:0000430	Underdeveloped nasal alae
4286	MITF	HP:0000426	Prominent nasal bridge
4286	MITF	HP:0006753	Neoplasm of the stomach
4286	MITF	HP:0000506	Telecanthus
4286	MITF	HP:0000508	Ptosis
4286	MITF	HP:0000504	Abnormality of vision
4286	MITF	HP:0000593	Abnormal anterior chamber morphology
4286	MITF	HP:0000586	Shallow orbits
4286	MITF	HP:0000589	Coloboma
4286	MITF	HP:0000568	Microphthalmia
4286	MITF	HP:0000534	Abnormal eyebrow morphology
4287	ATXN3	HP:0001151	Impaired horizontal smooth pursuit
4287	ATXN3	HP:0002495	Impaired vibratory sensation
4287	ATXN3	HP:0002493	Upper motor neuron dysfunction
4287	ATXN3	HP:0002460	Distal muscle weakness
4287	ATXN3	HP:0007256	Abnormal pyramidal sign
4287	ATXN3	HP:0007240	Progressive gait ataxia
4287	ATXN3	HP:0003743	Genetic anticipation
4287	ATXN3	HP:0001272	Cerebellar atrophy
4287	ATXN3	HP:0001251	Ataxia
4287	ATXN3	HP:0001260	Dysarthria
4287	ATXN3	HP:0001257	Spasticity
4287	ATXN3	HP:0002503	Spinocerebellar tract degeneration
4287	ATXN3	HP:0001347	Hyperreflexia
4287	ATXN3	HP:0001332	Dystonia
4287	ATXN3	HP:0000011	Neurogenic bladder
4287	ATXN3	HP:0000006	Autosomal dominant inheritance
4287	ATXN3	HP:0001300	Parkinsonism
4287	ATXN3	HP:0008944	Distal lower limb amyotrophy
4287	ATXN3	HP:0002015	Dysphagia
4287	ATXN3	HP:0002067	Bradykinesia
4287	ATXN3	HP:0003394	Muscle spasm
4287	ATXN3	HP:0002063	Rigidity
4287	ATXN3	HP:0002078	Truncal ataxia
4287	ATXN3	HP:0002073	Progressive cerebellar ataxia
4287	ATXN3	HP:0002070	Limb ataxia
4287	ATXN3	HP:0002071	Abnormality of extrapyramidal motor function
4287	ATXN3	HP:0003477	Peripheral axonal neuropathy
4287	ATXN3	HP:0003487	Babinski sign
4287	ATXN3	HP:0003457	EMG abnormality
4287	ATXN3	HP:0003438	Absent Achilles reflex
4287	ATXN3	HP:0002198	Dilated fourth ventricle
4287	ATXN3	HP:0002171	Gliosis
4287	ATXN3	HP:0002172	Postural instability
4287	ATXN3	HP:0011960	Substantia nigra gliosis
4287	ATXN3	HP:0007089	Facial-lingual fasciculations
4287	ATXN3	HP:0002380	Fasciculations
4287	ATXN3	HP:0002398	Degeneration of anterior horn cells
4287	ATXN3	HP:0002366	Abnormal lower motor neuron morphology
4287	ATXN3	HP:0003693	Distal amyotrophy
4287	ATXN3	HP:0002360	Sleep disturbance
4287	ATXN3	HP:0003676	Progressive
4287	ATXN3	HP:0002354	Memory impairment
4287	ATXN3	HP:0009830	Peripheral neuropathy
4287	ATXN3	HP:0002312	Clumsiness
4287	ATXN3	HP:0000640	Gaze-evoked nystagmus
4287	ATXN3	HP:0000651	Diplopia
4287	ATXN3	HP:0000641	Dysmetric saccades
4287	ATXN3	HP:0000623	Supranuclear ophthalmoplegia
4287	ATXN3	HP:0030454	Abnormal electrooculogram
4287	ATXN3	HP:0004370	Abnormality of temperature regulation
4287	ATXN3	HP:0000750	Delayed speech and language development
4287	ATXN3	HP:0000726	Dementia
4287	ATXN3	HP:0003202	Skeletal muscle atrophy
4287	ATXN3	HP:0040140	Degeneration of the striatum
4287	ATXN3	HP:0002839	Urinary bladder sphincter dysfunction
4287	ATXN3	HP:0001605	Vocal cord paralysis
4287	ATXN3	HP:0012332	Abnormal autonomic nervous system physiology
4287	ATXN3	HP:0001751	Abnormal vestibular function
4287	ATXN3	HP:0025710	Late young adult onset
4287	ATXN3	HP:0000520	Proptosis
4287	ATXN3	HP:0000508	Ptosis
4287	ATXN3	HP:0000590	Progressive external ophthalmoplegia
4287	ATXN3	HP:0012532	Chronic pain
4287	ATXN3	HP:0000544	External ophthalmoplegia
4292	MLH1	HP:0001123	Visual field defect
4292	MLH1	HP:0007256	Abnormal pyramidal sign
4292	MLH1	HP:0001276	Hypertonia
4292	MLH1	HP:0001274	Agenesis of corpus callosum
4292	MLH1	HP:0001288	Gait disturbance
4292	MLH1	HP:0100835	Benign neoplasm of the central nervous system
4292	MLH1	HP:0001250	Seizure
4292	MLH1	HP:0001252	Hypotonia
4292	MLH1	HP:0001260	Dysarthria
4292	MLH1	HP:0002516	Increased intracranial pressure
4292	MLH1	HP:0033682	Pleomorphic xanthoastrocytoma
4292	MLH1	HP:0033681	Oligodendroglioma
4292	MLH1	HP:0001371	Flexion contracture
4292	MLH1	HP:0007565	Multiple cafe-au-lait spots
4292	MLH1	HP:0002671	Basal cell carcinoma
4292	MLH1	HP:0000007	Autosomal recessive inheritance
4292	MLH1	HP:0002665	Lymphoma
4292	MLH1	HP:0000006	Autosomal dominant inheritance
4292	MLH1	HP:0012190	T-cell lymphoma
4292	MLH1	HP:0012174	Glioblastoma multiforme
4292	MLH1	HP:0012118	Laryngeal carcinoma
4292	MLH1	HP:0012114	Endometrial carcinoma
4292	MLH1	HP:0001402	Hepatocellular carcinoma
4292	MLH1	HP:0002024	Malabsorption
4292	MLH1	HP:0002019	Constipation
4292	MLH1	HP:0002017	Nausea and vomiting
4292	MLH1	HP:0002027	Abdominal pain
4292	MLH1	HP:0002076	Migraine
4292	MLH1	HP:0100571	Cardiac diverticulum
4292	MLH1	HP:0100576	Amaurosis fugax
4292	MLH1	HP:0040274	Adenocarcinoma of the small intestine
4292	MLH1	HP:0040276	Adenocarcinoma of the colon
4292	MLH1	HP:0002167	Abnormality of speech or vocalization
4292	MLH1	HP:0010526	Dysgraphia
4292	MLH1	HP:0010524	Agnosia
4292	MLH1	HP:0003401	Paresthesia
4292	MLH1	HP:0009592	Astrocytoma
4292	MLH1	HP:0003596	Middle age onset
4292	MLH1	HP:0002239	Gastrointestinal hemorrhage
4292	MLH1	HP:0002253	Colonic diverticula
4292	MLH1	HP:0009732	Plexiform neurofibroma
4292	MLH1	HP:0009720	Adenoma sebaceum
4292	MLH1	HP:0009726	Renal neoplasm
4292	MLH1	HP:0002282	Gray matter heterotopia
4292	MLH1	HP:0100743	Neoplasm of the rectum
4292	MLH1	HP:0007018	Attention deficit hyperactivity disorder
4292	MLH1	HP:0010622	Neoplasm of the skeletal system
4292	MLH1	HP:0002376	Developmental regression
4292	MLH1	HP:0001010	Hypopigmentation of the skin
4292	MLH1	HP:0002354	Memory impairment
4292	MLH1	HP:0100660	Dyskinesia
4292	MLH1	HP:0200008	Intestinal polyposis
4292	MLH1	HP:0100684	Salivary gland neoplasm
4292	MLH1	HP:0100615	Ovarian neoplasm
4292	MLH1	HP:0100613	Death in early adulthood
4292	MLH1	HP:0010786	Urinary tract neoplasm
4292	MLH1	HP:0001909	Leukemia
4292	MLH1	HP:0003002	Breast carcinoma
4292	MLH1	HP:0003003	Colon cancer
4292	MLH1	HP:0004377	Hematological neoplasm
4292	MLH1	HP:0004374	Hemiplegia/hemiparesis
4292	MLH1	HP:0003006	Neuroblastoma
4292	MLH1	HP:0100031	Neoplasm of the thyroid gland
4292	MLH1	HP:0000738	Hallucinations
4292	MLH1	HP:0000737	Irritability
4292	MLH1	HP:0000739	Anxiety
4292	MLH1	HP:0000716	Depression
4292	MLH1	HP:0000708	Atypical behavior
4292	MLH1	HP:0000997	Axillary freckling
4292	MLH1	HP:0008069	Neoplasm of the skin
4292	MLH1	HP:0002896	Neoplasm of the liver
4292	MLH1	HP:0002894	Neoplasm of the pancreas
4292	MLH1	HP:0002893	Pituitary adenoma
4292	MLH1	HP:0002888	Ependymoma
4292	MLH1	HP:0002885	Medulloblastoma
4292	MLH1	HP:0002859	Rhabdomyosarcoma
4292	MLH1	HP:0001522	Death in infancy
4292	MLH1	HP:0012378	Fatigue
4292	MLH1	HP:0005227	Adenomatous colonic polyposis
4292	MLH1	HP:0006753	Neoplasm of the stomach
4292	MLH1	HP:0006725	Pancreatic adenocarcinoma
4292	MLH1	HP:0006719	Benign gastrointestinal tract tumors
4292	MLH1	HP:0030410	Sebaceous gland carcinoma
4292	MLH1	HP:0006771	Duodenal adenocarcinoma
4292	MLH1	HP:0006778	Benign genitourinary tract neoplasm
4292	MLH1	HP:0006758	Malignant genitourinary tract tumor
4292	MLH1	HP:0001824	Weight loss
4292	MLH1	HP:0000505	Visual impairment
4292	MLH1	HP:0012539	Non-Hodgkin lymphoma
4297	KMT2A	HP:0001182	Tapered finger
4297	KMT2A	HP:0001155	Abnormality of the hand
4297	KMT2A	HP:0001273	Abnormal corpus callosum morphology
4297	KMT2A	HP:0001250	Seizure
4297	KMT2A	HP:0001252	Hypotonia
4297	KMT2A	HP:0001249	Intellectual disability
4297	KMT2A	HP:0001263	Global developmental delay
4297	KMT2A	HP:0100874	Thick hair
4297	KMT2A	HP:0002553	Highly arched eyebrow
4297	KMT2A	HP:0001388	Joint laxity
4297	KMT2A	HP:0000028	Cryptorchidism
4297	KMT2A	HP:0008897	Postnatal growth retardation
4297	KMT2A	HP:0000006	Autosomal dominant inheritance
4297	KMT2A	HP:0002650	Scoliosis
4297	KMT2A	HP:0008905	Rhizomelia
4297	KMT2A	HP:0007655	Eversion of lateral third of lower eyelids
4297	KMT2A	HP:0002750	Delayed skeletal maturation
4297	KMT2A	HP:0002020	Gastroesophageal reflux
4297	KMT2A	HP:0002019	Constipation
4297	KMT2A	HP:0004691	2-3 toe syndactyly
4297	KMT2A	HP:0002000	Short columella
4297	KMT2A	HP:0002015	Dysphagia
4297	KMT2A	HP:0100581	Dilatation of renal calices
4297	KMT2A	HP:0010485	Hyperextensibility at elbow
4297	KMT2A	HP:0004780	Elbow hypertrichosis
4297	KMT2A	HP:0002136	Broad-based gait
4297	KMT2A	HP:0002194	Delayed gross motor development
4297	KMT2A	HP:0002162	Low posterior hairline
4297	KMT2A	HP:0002263	Exaggerated cupid's bow
4297	KMT2A	HP:0002230	Generalized hirsutism
4297	KMT2A	HP:0009697	Contracture of the distal interphalangeal joint of the fingers
4297	KMT2A	HP:0011968	Feeding difficulties
4297	KMT2A	HP:0002360	Sleep disturbance
4297	KMT2A	HP:0002361	Psychomotor deterioration
4297	KMT2A	HP:0009811	Abnormality of the elbow
4297	KMT2A	HP:0009803	Short phalanx of finger
4297	KMT2A	HP:0200055	Small hand
4297	KMT2A	HP:0004209	Clinodactyly of the 5th finger
4297	KMT2A	HP:0000637	Long palpebral fissure
4297	KMT2A	HP:0000668	Hypodontia
4297	KMT2A	HP:0000664	Synophrys
4297	KMT2A	HP:0004322	Short stature
4297	KMT2A	HP:0005616	Accelerated skeletal maturation
4297	KMT2A	HP:0012745	Short palpebral fissure
4297	KMT2A	HP:0000752	Hyperactivity
4297	KMT2A	HP:0000767	Pectus excavatum
4297	KMT2A	HP:0000739	Anxiety
4297	KMT2A	HP:0000733	Abnormal repetitive mannerisms
4297	KMT2A	HP:0000736	Short attention span
4297	KMT2A	HP:0000750	Delayed speech and language development
4297	KMT2A	HP:0000744	Low frustration tolerance
4297	KMT2A	HP:0000718	Aggressive behavior
4297	KMT2A	HP:0000717	Autism
4297	KMT2A	HP:0000708	Atypical behavior
4297	KMT2A	HP:0011463	Childhood onset
4297	KMT2A	HP:0003196	Short nose
4297	KMT2A	HP:0000824	Decreased response to growth hormone stimulation test
4297	KMT2A	HP:0009237	Short 5th finger
4297	KMT2A	HP:0004540	Congenital, generalized hypertrichosis
4297	KMT2A	HP:0004554	Generalized hypertrichosis
4297	KMT2A	HP:0000960	Sacral dimple
4297	KMT2A	HP:0045025	Narrow palpebral fissure
4297	KMT2A	HP:0005819	Short middle phalanx of finger
4297	KMT2A	HP:0000286	Epicanthus
4297	KMT2A	HP:0000268	Dolichocephaly
4297	KMT2A	HP:0030084	Clinodactyly
4297	KMT2A	HP:0000252	Microcephaly
4297	KMT2A	HP:0000219	Thin upper lip vermilion
4297	KMT2A	HP:0000218	High palate
4297	KMT2A	HP:0001508	Failure to thrive
4297	KMT2A	HP:0001511	Intrauterine growth retardation
4297	KMT2A	HP:0012368	Flat face
4297	KMT2A	HP:0000369	Low-set ears
4297	KMT2A	HP:0000343	Long philtrum
4297	KMT2A	HP:0000348	High forehead
4297	KMT2A	HP:0000347	Micrognathia
4297	KMT2A	HP:0000316	Hypertelorism
4297	KMT2A	HP:0001643	Patent ductus arteriosus
4297	KMT2A	HP:0000311	Round face
4297	KMT2A	HP:0000324	Facial asymmetry
4297	KMT2A	HP:0001631	Atrial septal defect
4297	KMT2A	HP:0031623	Brow ptosis
4297	KMT2A	HP:0000403	Recurrent otitis media
4297	KMT2A	HP:0000486	Strabismus
4297	KMT2A	HP:0000494	Downslanted palpebral fissures
4297	KMT2A	HP:0000455	Broad nasal tip
4297	KMT2A	HP:0000465	Webbed neck
4297	KMT2A	HP:0000437	Depressed nasal tip
4297	KMT2A	HP:0001763	Pes planus
4297	KMT2A	HP:0000445	Wide nose
4297	KMT2A	HP:0000414	Bulbous nose
4297	KMT2A	HP:0000431	Wide nasal bridge
4297	KMT2A	HP:0006712	Aplasia/Hypoplasia of the ribs
4297	KMT2A	HP:0011298	Prominent digit pad
4297	KMT2A	HP:0001847	Long hallux
4297	KMT2A	HP:0000527	Long eyelashes
4297	KMT2A	HP:0000506	Telecanthus
4297	KMT2A	HP:0000508	Ptosis
4297	KMT2A	HP:0001831	Short toe
4297	KMT2A	HP:0000581	Blepharophimosis
4297	KMT2A	HP:0000592	Blue sclerae
4297	KMT2A	HP:0011220	Prominent forehead
4297	KMT2A	HP:0000574	Thick eyebrow
4306	NR3C2	HP:0000006	Autosomal dominant inheritance
4306	NR3C2	HP:0002615	Hypotension
4306	NR3C2	HP:0003351	Decreased circulating renin level
4306	NR3C2	HP:0002014	Diarrhea
4306	NR3C2	HP:0002013	Vomiting
4306	NR3C2	HP:0002153	Hyperkalemia
4306	NR3C2	HP:0008242	Pseudohypoaldosteronism
4306	NR3C2	HP:0011968	Feeding difficulties
4306	NR3C2	HP:0003623	Neonatal onset
4306	NR3C2	HP:0001944	Dehydration
4306	NR3C2	HP:0001942	Metabolic acidosis
4306	NR3C2	HP:0004319	Decreased circulating aldosterone level
4306	NR3C2	HP:0000859	Hyperaldosteronism
4306	NR3C2	HP:0000848	Increased circulating renin level
4306	NR3C2	HP:0000841	Hyperactive renin-angiotensin system
4306	NR3C2	HP:0000822	Hypertension
4306	NR3C2	HP:0008071	Maternal hypertension
4306	NR3C2	HP:0001508	Failure to thrive
4306	NR3C2	HP:0002902	Hyponatremia
4308	TRPM1	HP:0000007	Autosomal recessive inheritance
4308	TRPM1	HP:0007663	Reduced visual acuity
4308	TRPM1	HP:0007642	Congenital stationary night blindness
4308	TRPM1	HP:0001000	Abnormality of skin pigmentation
4308	TRPM1	HP:0000639	Nystagmus
4308	TRPM1	HP:0030469	Abnormal dark-adapted electroretinogram
4308	TRPM1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
4308	TRPM1	HP:0000662	Nyctalopia
4308	TRPM1	HP:0030639	Congenital stationary night blindness with abnormal fundus
4308	TRPM1	HP:0030638	Congenital stationary night blindness with normal fundus
4308	TRPM1	HP:0000958	Dry skin
4308	TRPM1	HP:0007703	Abnormality of retinal pigmentation
4308	TRPM1	HP:0030329	Retinal thinning
4308	TRPM1	HP:0007984	Electronegative electroretinogram
4308	TRPM1	HP:0000486	Strabismus
4308	TRPM1	HP:0031705	Compensatory head posture
4308	TRPM1	HP:0000512	Abnormal electroretinogram
4308	TRPM1	HP:0000540	Hypermetropia
4308	TRPM1	HP:0000551	Color vision defect
4308	TRPM1	HP:0000545	Myopia
4311	MME	HP:0001284	Areflexia
4311	MME	HP:0001251	Ataxia
4311	MME	HP:0001265	Hyporeflexia
4311	MME	HP:0001260	Dysarthria
4311	MME	HP:0000083	Renal insufficiency
4311	MME	HP:0000099	Glomerulonephritis
4311	MME	HP:0000007	Autosomal recessive inheritance
4311	MME	HP:0001337	Tremor
4311	MME	HP:0000006	Autosomal dominant inheritance
4311	MME	HP:0008959	Distal upper limb muscle weakness
4311	MME	HP:0008944	Distal lower limb amyotrophy
4311	MME	HP:0000100	Nephrotic syndrome
4311	MME	HP:0030902	Palmomental reflex
4311	MME	HP:0002066	Gait ataxia
4311	MME	HP:0002063	Rigidity
4311	MME	HP:0030949	Glomerular deposits
4311	MME	HP:0002073	Progressive cerebellar ataxia
4311	MME	HP:0002070	Limb ataxia
4311	MME	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
4311	MME	HP:0003477	Peripheral axonal neuropathy
4311	MME	HP:0002172	Postural instability
4311	MME	HP:0003596	Middle age onset
4311	MME	HP:0003584	Late onset
4311	MME	HP:0002396	Cogwheel rigidity
4311	MME	HP:0003693	Distal amyotrophy
4311	MME	HP:0003677	Slowly progressive
4311	MME	HP:0002317	Unsteady gait
4311	MME	HP:0007141	Sensorimotor neuropathy
4311	MME	HP:0006855	Cerebellar vermis atrophy
4311	MME	HP:0000639	Nystagmus
4311	MME	HP:0009053	Distal lower limb muscle weakness
4311	MME	HP:0009027	Foot dorsiflexor weakness
4311	MME	HP:0000768	Pectus carinatum
4311	MME	HP:0000726	Dementia
4311	MME	HP:0002936	Distal sensory impairment
4311	MME	HP:0031437	Pregnancy exposure
4311	MME	HP:0025710	Late young adult onset
4311	MME	HP:0001761	Pes cavus
4311	MME	HP:0000571	Hypometric saccades
4311	MME	HP:0012531	Pain
4311	MME	HP:0012514	Lower limb pain
4312	MMP1	HP:0000083	Renal insufficiency
4312	MMP1	HP:0000099	Glomerulonephritis
4312	MMP1	HP:0012056	Cutaneous melanoma
4312	MMP1	HP:0000079	Abnormality of the urinary system
4312	MMP1	HP:0033803	Sub-lamina densa cleavage
4312	MMP1	HP:0001371	Flexion contracture
4312	MMP1	HP:0002671	Basal cell carcinoma
4312	MMP1	HP:0000007	Autosomal recessive inheritance
4312	MMP1	HP:0000160	Narrow mouth
4312	MMP1	HP:0006297	Enamel hypoplasia
4312	MMP1	HP:0002020	Gastroesophageal reflux
4312	MMP1	HP:0002019	Constipation
4312	MMP1	HP:0002031	Abnormal esophagus morphology
4312	MMP1	HP:0002015	Dysphagia
4312	MMP1	HP:0002043	Esophageal stricture
4312	MMP1	HP:0100508	Abnormality of vitamin metabolism
4312	MMP1	HP:0100512	Low levels of vitamin D
4312	MMP1	HP:0004791	Esophageal ulceration
4312	MMP1	HP:0011936	Decreased plasma total carnitine
4312	MMP1	HP:0002164	Nail dysplasia
4312	MMP1	HP:0003593	Infantile onset
4312	MMP1	HP:0003577	Congenital onset
4312	MMP1	HP:0008404	Nail dystrophy
4312	MMP1	HP:0008366	Foot joint contracture
4312	MMP1	HP:0200097	Oral mucosal blisters
4312	MMP1	HP:0001056	Milia
4312	MMP1	HP:0001057	Aplasia cutis congenita
4312	MMP1	HP:0001030	Fragile skin
4312	MMP1	HP:0200020	Corneal erosion
4312	MMP1	HP:0001075	Atrophic scars
4312	MMP1	HP:0031831	Decreased serum zinc
4312	MMP1	HP:0012622	Chronic kidney disease
4312	MMP1	HP:0001965	Abnormal scalp morphology
4312	MMP1	HP:0001903	Anemia
4312	MMP1	HP:0001917	Renal amyloidosis
4312	MMP1	HP:0011354	Generalized abnormality of skin
4312	MMP1	HP:0000670	Carious teeth
4312	MMP1	HP:0004386	Gastrointestinal inflammation
4312	MMP1	HP:0004395	Malnutrition
4312	MMP1	HP:0031903	Abnormal circulating selenium concentration
4312	MMP1	HP:0000739	Anxiety
4312	MMP1	HP:0000716	Depression
4312	MMP1	HP:0000794	IgA deposition in the glomerulus
4312	MMP1	HP:0000823	Delayed puberty
4312	MMP1	HP:0010296	Ankyloglossia
4312	MMP1	HP:0000982	Palmoplantar keratoderma
4312	MMP1	HP:0000939	Osteoporosis
4312	MMP1	HP:0000938	Osteopenia
4312	MMP1	HP:0008066	Abnormal blistering of the skin
4312	MMP1	HP:0001596	Alopecia
4312	MMP1	HP:0012252	Abnormal respiratory system morphology
4312	MMP1	HP:0012227	Urethral stricture
4312	MMP1	HP:0001581	Recurrent skin infections
4312	MMP1	HP:0002860	Squamous cell carcinoma
4312	MMP1	HP:0032676	Chronic cutaneous wound
4312	MMP1	HP:0002839	Urinary bladder sphincter dysfunction
4312	MMP1	HP:0001510	Growth delay
4312	MMP1	HP:0006510	Chronic pulmonary obstruction
4312	MMP1	HP:0012390	Anal fissure
4312	MMP1	HP:0005203	Spontaneous esophageal perforation
4312	MMP1	HP:0031446	Erosion of oral mucosa
4312	MMP1	HP:0031464	Genital blistering
4312	MMP1	HP:0001644	Dilated cardiomyopathy
4312	MMP1	HP:0004057	Mitten deformity
4312	MMP1	HP:0000478	Abnormality of the eye
4312	MMP1	HP:0001798	Anonychia
4312	MMP1	HP:0000518	Cataract
4312	MMP1	HP:0000509	Conjunctivitis
4312	MMP1	HP:0001891	Iron deficiency anemia
4312	MMP1	HP:0000559	Corneal scarring
4312	MMP1	HP:0000572	Visual loss
4312	MMP1	HP:0012532	Chronic pain
4313	MMP2	HP:0001171	Split hand
4313	MMP2	HP:0025131	Finger swelling
4313	MMP2	HP:0001288	Gait disturbance
4313	MMP2	HP:0001249	Intellectual disability
4313	MMP2	HP:0001230	Broad metacarpals
4313	MMP2	HP:0001239	Wrist flexion contracture
4313	MMP2	HP:0006012	Widened metacarpal shaft
4313	MMP2	HP:0001220	Interphalangeal joint contracture of finger
4313	MMP2	HP:0006086	Thin metacarpal cortices
4313	MMP2	HP:0001369	Arthritis
4313	MMP2	HP:0006234	Osteolysis involving tarsal bones
4313	MMP2	HP:0002659	Increased susceptibility to fractures
4313	MMP2	HP:0000007	Autosomal recessive inheritance
4313	MMP2	HP:0001495	Carpal osteolysis
4313	MMP2	HP:0001473	Metatarsal osteolysis
4313	MMP2	HP:0001476	Delayed closure of the anterior fontanelle
4313	MMP2	HP:0002797	Osteolysis
4313	MMP2	HP:0001482	Subcutaneous nodule
4313	MMP2	HP:0000147	Polycystic ovaries
4313	MMP2	HP:0006252	Interphalangeal joint erosions
4313	MMP2	HP:0002753	Thin bony cortex
4313	MMP2	HP:0002751	Kyphoscoliosis
4313	MMP2	HP:0005994	Nodular goiter
4313	MMP2	HP:0002007	Frontal bossing
4313	MMP2	HP:0003312	Abnormal form of the vertebral bodies
4313	MMP2	HP:0003320	C1-C2 subluxation
4313	MMP2	HP:0008133	Distal tapering of metatarsals
4313	MMP2	HP:0005922	Abnormal hand morphology
4313	MMP2	HP:0003493	Antinuclear antibody positivity
4313	MMP2	HP:0010537	Wide cranial sutures
4313	MMP2	HP:0003593	Infantile onset
4313	MMP2	HP:0001059	Pterygium
4313	MMP2	HP:0001034	Hypermelanotic macule
4313	MMP2	HP:0001007	Hirsutism
4313	MMP2	HP:0100651	Type I diabetes mellitus
4313	MMP2	HP:0001072	Thickened skin
4313	MMP2	HP:0001085	Papilledema
4313	MMP2	HP:0003621	Juvenile onset
4313	MMP2	HP:0000612	Iris coloboma
4313	MMP2	HP:0011355	Localized skin lesion
4313	MMP2	HP:0000684	Delayed eruption of teeth
4313	MMP2	HP:0001999	Abnormal facial shape
4313	MMP2	HP:0004322	Short stature
4313	MMP2	HP:0003040	Arthropathy
4313	MMP2	HP:0003016	Metaphyseal widening
4313	MMP2	HP:0011463	Childhood onset
4313	MMP2	HP:0009139	Osteolysis involving bones of the lower limbs
4313	MMP2	HP:0000916	Broad clavicles
4313	MMP2	HP:0003179	Protrusio acetabuli
4313	MMP2	HP:0000822	Hypertension
4313	MMP2	HP:0045039	Osteolysis involving bones of the upper limbs
4313	MMP2	HP:0003273	Hip contracture
4313	MMP2	HP:0008011	Peripheral opacification of the cornea
4313	MMP2	HP:0010314	Premature thelarche
4313	MMP2	HP:0000939	Osteoporosis
4313	MMP2	HP:0000938	Osteopenia
4313	MMP2	HP:0008090	Ankylosis of feet small joints
4313	MMP2	HP:0008078	Thin metatarsal cortices
4313	MMP2	HP:0000280	Coarse facial features
4313	MMP2	HP:0006466	Ankle flexion contracture
4313	MMP2	HP:0002829	Arthralgia
4313	MMP2	HP:0000248	Brachycephaly
4313	MMP2	HP:0000212	Gingival overgrowth
4313	MMP2	HP:0001539	Omphalocele
4313	MMP2	HP:0001504	Metacarpal osteolysis
4313	MMP2	HP:0001680	Coarctation of aorta
4313	MMP2	HP:0001678	Atrioventricular block
4313	MMP2	HP:0000347	Micrognathia
4313	MMP2	HP:0001647	Bicuspid aortic valve
4313	MMP2	HP:0000316	Hypertelorism
4313	MMP2	HP:0000315	Abnormality of the orbital region
4313	MMP2	HP:0000327	Hypoplasia of the maxilla
4313	MMP2	HP:0001629	Ventricular septal defect
4313	MMP2	HP:0001626	Abnormality of the cardiovascular system
4313	MMP2	HP:0002953	Vertebral compression fracture
4313	MMP2	HP:0001631	Atrial septal defect
4313	MMP2	HP:0001634	Mitral valve prolapse
4313	MMP2	HP:0007957	Corneal opacity
4313	MMP2	HP:0001719	Double outlet right ventricle
4313	MMP2	HP:0001763	Pes planus
4313	MMP2	HP:0001783	Broad metatarsal
4313	MMP2	HP:0000446	Narrow nasal bridge
4313	MMP2	HP:0000414	Bulbous nose
4313	MMP2	HP:0001761	Pes cavus
4313	MMP2	HP:0005441	Sclerotic cranial sutures
4313	MMP2	HP:0000520	Proptosis
4313	MMP2	HP:0001836	Camptodactyly of toe
4318	MMP9	HP:0100864	Short femoral neck
4318	MMP9	HP:0001387	Joint stiffness
4318	MMP9	HP:0000007	Autosomal recessive inheritance
4318	MMP9	HP:0005930	Abnormal epiphysis morphology
4318	MMP9	HP:0003593	Infantile onset
4318	MMP9	HP:0004322	Short stature
4318	MMP9	HP:0003016	Metaphyseal widening
4318	MMP9	HP:0003025	Metaphyseal irregularity
4318	MMP9	HP:0040071	Abnormal morphology of ulna
4318	MMP9	HP:0000944	Abnormal metaphysis morphology
4318	MMP9	HP:0002814	Abnormality of the lower limb
4318	MMP9	HP:0006501	Aplasia/Hypoplasia of the radius
4318	MMP9	HP:0006487	Bowing of the long bones
4318	MMP9	HP:0002983	Micromelia
4318	MMP9	HP:0002979	Bowing of the legs
4318	MMP9	HP:0002970	Genu varum
4318	MMP9	HP:0004039	Abnormal ulnar metaphysis morphology
4322	MMP13	HP:0010886	Osteochondritis dissecans
4322	MMP13	HP:0001270	Motor delay
4322	MMP13	HP:0001288	Gait disturbance
4322	MMP13	HP:0002515	Waddling gait
4322	MMP13	HP:0025369	Thick growth plates
4322	MMP13	HP:0001377	Limited elbow extension
4322	MMP13	HP:0001385	Hip dysplasia
4322	MMP13	HP:0001387	Joint stiffness
4322	MMP13	HP:0000007	Autosomal recessive inheritance
4322	MMP13	HP:0000006	Autosomal dominant inheritance
4322	MMP13	HP:0002650	Scoliosis
4322	MMP13	HP:0002651	Spondyloepimetaphyseal dysplasia
4322	MMP13	HP:0008905	Rhizomelia
4322	MMP13	HP:0000164	Abnormality of the dentition
4322	MMP13	HP:0002758	Osteoarthritis
4322	MMP13	HP:0002750	Delayed skeletal maturation
4322	MMP13	HP:0003310	Abnormality of the odontoid process
4322	MMP13	HP:0003307	Hyperlordosis
4322	MMP13	HP:0005930	Abnormal epiphysis morphology
4322	MMP13	HP:0003498	Disproportionate short stature
4322	MMP13	HP:0010585	Small epiphyses
4322	MMP13	HP:0003593	Infantile onset
4322	MMP13	HP:0004979	Metaphyseal sclerosis
4322	MMP13	HP:0008476	Irregular sclerotic endplates
4322	MMP13	HP:0003621	Juvenile onset
4322	MMP13	HP:0000670	Carious teeth
4322	MMP13	HP:0004322	Short stature
4322	MMP13	HP:0003071	Flattened epiphysis
4322	MMP13	HP:0003031	Ulnar bowing
4322	MMP13	HP:0003015	Flared metaphysis
4322	MMP13	HP:0003016	Metaphyseal widening
4322	MMP13	HP:0003025	Metaphyseal irregularity
4322	MMP13	HP:0003021	Metaphyseal cupping
4322	MMP13	HP:0004349	Reduced bone mineral density
4322	MMP13	HP:0000926	Platyspondyly
4322	MMP13	HP:0040071	Abnormal morphology of ulna
4322	MMP13	HP:0004566	Pear-shaped vertebrae
4322	MMP13	HP:0005871	Metaphyseal chondrodysplasia
4322	MMP13	HP:0030839	Knee pain
4322	MMP13	HP:0100255	Metaphyseal dysplasia
4322	MMP13	HP:0000944	Abnormal metaphysis morphology
4322	MMP13	HP:0006409	Progressive leg bowing
4322	MMP13	HP:0002814	Abnormality of the lower limb
4322	MMP13	HP:0002812	Coxa vara
4322	MMP13	HP:0005086	Knee osteoarthritis
4322	MMP13	HP:0006385	Short lower limbs
4322	MMP13	HP:0002857	Genu valgum
4322	MMP13	HP:0002869	Flared iliac wing
4322	MMP13	HP:0006501	Aplasia/Hypoplasia of the radius
4322	MMP13	HP:0006487	Bowing of the long bones
4322	MMP13	HP:0002982	Tibial bowing
4322	MMP13	HP:0002980	Femoral bowing
4322	MMP13	HP:0002979	Bowing of the legs
4322	MMP13	HP:0002986	Radial bowing
4322	MMP13	HP:0002970	Genu varum
4322	MMP13	HP:0006603	Flared, irregular rib ends
4322	MMP13	HP:0004039	Abnormal ulnar metaphysis morphology
4323	MMP14	HP:0001249	Intellectual disability
4323	MMP14	HP:0001230	Broad metacarpals
4323	MMP14	HP:0001369	Arthritis
4323	MMP14	HP:0006234	Osteolysis involving tarsal bones
4323	MMP14	HP:0002659	Increased susceptibility to fractures
4323	MMP14	HP:0000007	Autosomal recessive inheritance
4323	MMP14	HP:0001495	Carpal osteolysis
4323	MMP14	HP:0002797	Osteolysis
4323	MMP14	HP:0001482	Subcutaneous nodule
4323	MMP14	HP:0000147	Polycystic ovaries
4323	MMP14	HP:0005994	Nodular goiter
4323	MMP14	HP:0003312	Abnormal form of the vertebral bodies
4323	MMP14	HP:0005922	Abnormal hand morphology
4323	MMP14	HP:0003593	Infantile onset
4323	MMP14	HP:0001059	Pterygium
4323	MMP14	HP:0001007	Hirsutism
4323	MMP14	HP:0100651	Type I diabetes mellitus
4323	MMP14	HP:0001085	Papilledema
4323	MMP14	HP:0000612	Iris coloboma
4323	MMP14	HP:0011355	Localized skin lesion
4323	MMP14	HP:0001999	Abnormal facial shape
4323	MMP14	HP:0003040	Arthropathy
4323	MMP14	HP:0011463	Childhood onset
4323	MMP14	HP:0009139	Osteolysis involving bones of the lower limbs
4323	MMP14	HP:0000916	Broad clavicles
4323	MMP14	HP:0000822	Hypertension
4323	MMP14	HP:0045039	Osteolysis involving bones of the upper limbs
4323	MMP14	HP:0010314	Premature thelarche
4323	MMP14	HP:0000939	Osteoporosis
4323	MMP14	HP:0000938	Osteopenia
4323	MMP14	HP:0040160	Generalized osteoporosis
4323	MMP14	HP:0000280	Coarse facial features
4323	MMP14	HP:0002808	Kyphosis
4323	MMP14	HP:0000248	Brachycephaly
4323	MMP14	HP:0000212	Gingival overgrowth
4323	MMP14	HP:0001539	Omphalocele
4323	MMP14	HP:0001680	Coarctation of aorta
4323	MMP14	HP:0001678	Atrioventricular block
4323	MMP14	HP:0001647	Bicuspid aortic valve
4323	MMP14	HP:0000315	Abnormality of the orbital region
4323	MMP14	HP:0001629	Ventricular septal defect
4323	MMP14	HP:0001626	Abnormality of the cardiovascular system
4323	MMP14	HP:0001631	Atrial septal defect
4323	MMP14	HP:0001634	Mitral valve prolapse
4323	MMP14	HP:0007957	Corneal opacity
4323	MMP14	HP:0001719	Double outlet right ventricle
4323	MMP14	HP:0005441	Sclerotic cranial sutures
4327	MMP19	HP:0001123	Visual field defect
4327	MMP19	HP:0000006	Autosomal dominant inheritance
4327	MMP19	HP:0007663	Reduced visual acuity
4327	MMP19	HP:0500087	Peripapillary atrophy
4327	MMP19	HP:0000662	Nyctalopia
4329	ALDH6A1	HP:0001252	Hypotonia
4329	ALDH6A1	HP:0001263	Global developmental delay
4329	ALDH6A1	HP:0001332	Dystonia
4329	ALDH6A1	HP:0033725	Thin corpus callosum
4329	ALDH6A1	HP:0000007	Autosomal recessive inheritance
4329	ALDH6A1	HP:0012120	Methylmalonic aciduria
4329	ALDH6A1	HP:0002007	Frontal bossing
4329	ALDH6A1	HP:0002079	Hypoplasia of the corpus callosum
4329	ALDH6A1	HP:0002151	Increased serum lactate
4329	ALDH6A1	HP:0002188	Delayed CNS myelination
4329	ALDH6A1	HP:0003593	Infantile onset
4329	ALDH6A1	HP:0011968	Feeding difficulties
4329	ALDH6A1	HP:0020079	Beta-alaninuria
4329	ALDH6A1	HP:0010804	Tented upper lip vermilion
4329	ALDH6A1	HP:0007165	Periventricular heterotopia
4329	ALDH6A1	HP:0001942	Metabolic acidosis
4329	ALDH6A1	HP:0010055	Broad hallux
4329	ALDH6A1	HP:0006956	Lateral ventricle dilatation
4329	ALDH6A1	HP:0003196	Short nose
4329	ALDH6A1	HP:0045034	Elevated urinary aminoisobutyric acid
4329	ALDH6A1	HP:0000954	Single transverse palmar crease
4329	ALDH6A1	HP:0008070	Sparse hair
4329	ALDH6A1	HP:0040155	Elevated urinary 3-hydroxybutyric acid
4329	ALDH6A1	HP:0000286	Epicanthus
4329	ALDH6A1	HP:0000252	Microcephaly
4329	ALDH6A1	HP:0000218	High palate
4329	ALDH6A1	HP:0007814	Retinal pigment epithelial mottling
4329	ALDH6A1	HP:0002912	Methylmalonic acidemia
4329	ALDH6A1	HP:0000343	Long philtrum
4329	ALDH6A1	HP:0000348	High forehead
4329	ALDH6A1	HP:0000316	Hypertelorism
4329	ALDH6A1	HP:0000322	Short philtrum
4329	ALDH6A1	HP:0005280	Depressed nasal bridge
4329	ALDH6A1	HP:0000494	Downslanted palpebral fissures
4329	ALDH6A1	HP:0000463	Anteverted nares
4329	ALDH6A1	HP:0000414	Bulbous nose
4329	ALDH6A1	HP:0000518	Cataract
4329	ALDH6A1	HP:0000568	Microphthalmia
4330	MN1	HP:0009921	Duane anomaly
4330	MN1	HP:0001290	Generalized hypotonia
4330	MN1	HP:0001270	Motor delay
4330	MN1	HP:0001250	Seizure
4330	MN1	HP:0001249	Intellectual disability
4330	MN1	HP:0002591	Polyphagia
4330	MN1	HP:0002553	Highly arched eyebrow
4330	MN1	HP:0003829	Typified by incomplete penetrance
4330	MN1	HP:0001357	Plagiocephaly
4330	MN1	HP:0000006	Autosomal dominant inheritance
4330	MN1	HP:0011800	Midface retrusion
4330	MN1	HP:0002126	Polymicrogyria
4330	MN1	HP:0003581	Adult onset
4330	MN1	HP:0011968	Feeding difficulties
4330	MN1	HP:0000639	Nystagmus
4330	MN1	HP:0011344	Severe global developmental delay
4330	MN1	HP:0000750	Delayed speech and language development
4330	MN1	HP:0000776	Congenital diaphragmatic hernia
4330	MN1	HP:0003196	Short nose
4330	MN1	HP:0033011	Platystencephaly
4330	MN1	HP:0000262	Turricephaly
4330	MN1	HP:0000268	Dolichocephaly
4330	MN1	HP:0000248	Brachycephaly
4330	MN1	HP:0000218	High palate
4330	MN1	HP:0002858	Meningioma
4330	MN1	HP:0012368	Flat face
4330	MN1	HP:0000377	Abnormal pinna morphology
4330	MN1	HP:0000365	Hearing impairment
4330	MN1	HP:0000358	Posteriorly rotated ears
4330	MN1	HP:0000369	Low-set ears
4330	MN1	HP:0000341	Narrow forehead
4330	MN1	HP:0000316	Hypertelorism
4330	MN1	HP:0005280	Depressed nasal bridge
4330	MN1	HP:0000486	Strabismus
4330	MN1	HP:0000494	Downslanted palpebral fissures
4330	MN1	HP:0000463	Anteverted nares
4330	MN1	HP:0000457	Depressed nasal ridge
4330	MN1	HP:0011220	Prominent forehead
4330	MN1	HP:0000574	Thick eyebrow
4337	MOCS1	HP:0010934	Xanthinuria
4337	MOCS1	HP:0003739	Myoclonic spasms
4337	MOCS1	HP:0001285	Spastic tetraparesis
4337	MOCS1	HP:0001250	Seizure
4337	MOCS1	HP:0001249	Intellectual disability
4337	MOCS1	HP:0002510	Spastic tetraplegia
4337	MOCS1	HP:0003808	Abnormal muscle tone
4337	MOCS1	HP:0012019	Lens luxation
4337	MOCS1	HP:0008872	Feeding difficulties in infancy
4337	MOCS1	HP:0000007	Autosomal recessive inheritance
4337	MOCS1	HP:0003359	Decreased urinary sulfate
4337	MOCS1	HP:0002007	Frontal bossing
4337	MOCS1	HP:0011814	Increased urinary hypoxanthine
4337	MOCS1	HP:0002079	Hypoplasia of the corpus callosum
4337	MOCS1	HP:0002059	Cerebral atrophy
4337	MOCS1	HP:0002119	Ventriculomegaly
4337	MOCS1	HP:0003447	Axonal loss
4337	MOCS1	HP:0011935	Decreased urinary urate
4337	MOCS1	HP:0002179	Opisthotonus
4337	MOCS1	HP:0002171	Gliosis
4337	MOCS1	HP:0003570	Molybdenum cofactor deficiency
4337	MOCS1	HP:0003537	Hypouricemia
4337	MOCS1	HP:0003534	Reduced xanthine dehydrogenase level
4337	MOCS1	HP:0011942	Increased urinary sulfite
4337	MOCS1	HP:0011943	Increased urinary thiosulfate
4337	MOCS1	HP:0003676	Progressive
4337	MOCS1	HP:0001083	Ectopia lentis
4337	MOCS1	HP:0003643	Sulfite oxidase deficiency
4337	MOCS1	HP:0003606	Absent urinary urothione
4337	MOCS1	HP:0000639	Nystagmus
4337	MOCS1	HP:0000804	Xanthine nephrolithiasis
4337	MOCS1	HP:0003196	Short nose
4337	MOCS1	HP:0003166	Increased urinary taurine
4337	MOCS1	HP:0000293	Full cheeks
4337	MOCS1	HP:0000256	Macrocephaly
4337	MOCS1	HP:0000276	Long face
4337	MOCS1	HP:0000252	Microcephaly
4337	MOCS1	HP:0001510	Growth delay
4337	MOCS1	HP:0011096	Peripheral demyelination
4337	MOCS1	HP:0002932	Aldehyde oxidase deficiency
4337	MOCS1	HP:0000343	Long philtrum
4337	MOCS1	HP:0000316	Hypertelorism
4337	MOCS1	HP:0012471	Thick vermilion border
4338	MOCS2	HP:0010934	Xanthinuria
4338	MOCS2	HP:0003739	Myoclonic spasms
4338	MOCS2	HP:0001276	Hypertonia
4338	MOCS2	HP:0001250	Seizure
4338	MOCS2	HP:0001252	Hypotonia
4338	MOCS2	HP:0001263	Global developmental delay
4338	MOCS2	HP:0002510	Spastic tetraplegia
4338	MOCS2	HP:0002506	Diffuse cerebral atrophy
4338	MOCS2	HP:0003811	Neonatal death
4338	MOCS2	HP:0012019	Lens luxation
4338	MOCS2	HP:0033725	Thin corpus callosum
4338	MOCS2	HP:0000007	Autosomal recessive inheritance
4338	MOCS2	HP:0002007	Frontal bossing
4338	MOCS2	HP:0011814	Increased urinary hypoxanthine
4338	MOCS2	HP:0002069	Bilateral tonic-clonic seizure
4338	MOCS2	HP:0002079	Hypoplasia of the corpus callosum
4338	MOCS2	HP:0002059	Cerebral atrophy
4338	MOCS2	HP:0002119	Ventriculomegaly
4338	MOCS2	HP:0003447	Axonal loss
4338	MOCS2	HP:0011935	Decreased urinary urate
4338	MOCS2	HP:0002179	Opisthotonus
4338	MOCS2	HP:0002171	Gliosis
4338	MOCS2	HP:0003570	Molybdenum cofactor deficiency
4338	MOCS2	HP:0003537	Hypouricemia
4338	MOCS2	HP:0011968	Feeding difficulties
4338	MOCS2	HP:0011942	Increased urinary sulfite
4338	MOCS2	HP:0003676	Progressive
4338	MOCS2	HP:0001083	Ectopia lentis
4338	MOCS2	HP:0003623	Neonatal onset
4338	MOCS2	HP:0000639	Nystagmus
4338	MOCS2	HP:0000804	Xanthine nephrolithiasis
4338	MOCS2	HP:0000737	Irritability
4338	MOCS2	HP:0003196	Short nose
4338	MOCS2	HP:0003166	Increased urinary taurine
4338	MOCS2	HP:0000293	Full cheeks
4338	MOCS2	HP:0000256	Macrocephaly
4338	MOCS2	HP:0000276	Long face
4338	MOCS2	HP:0000252	Microcephaly
4338	MOCS2	HP:0001510	Growth delay
4338	MOCS2	HP:0011096	Peripheral demyelination
4338	MOCS2	HP:0000343	Long philtrum
4338	MOCS2	HP:0000316	Hypertelorism
4338	MOCS2	HP:0012471	Thick vermilion border
4340	MOG	HP:0002494	Abnormal rapid eye movement sleep
4340	MOG	HP:0025233	Sleep paralysis
4340	MOG	HP:0001279	Syncope
4340	MOG	HP:0001262	Excessive daytime somnolence
4340	MOG	HP:0002519	Hypnagogic hallucinations
4340	MOG	HP:0002524	Cataplexy
4340	MOG	HP:0001350	Slurred speech
4340	MOG	HP:0000006	Autosomal dominant inheritance
4340	MOG	HP:0005978	Type II diabetes mellitus
4340	MOG	HP:0010534	Transient global amnesia
4340	MOG	HP:0002360	Sleep disturbance
4340	MOG	HP:0000738	Hallucinations
4340	MOG	HP:0011462	Young adult onset
4340	MOG	HP:0002870	Obstructive sleep apnea
4340	MOG	HP:0030050	Narcolepsy
4340	MOG	HP:0001513	Obesity
4340	MOG	HP:0000478	Abnormality of the eye
4340	MOG	HP:0000504	Abnormality of vision
4351	MPI	HP:0001290	Generalized hypotonia
4351	MPI	HP:0001252	Hypotonia
4351	MPI	HP:0001249	Intellectual disability
4351	MPI	HP:0002570	Steatorrhea
4351	MPI	HP:0003819	Death in childhood
4351	MPI	HP:0001399	Hepatic failure
4351	MPI	HP:0001395	Hepatic fibrosis
4351	MPI	HP:0001394	Cirrhosis
4351	MPI	HP:0000007	Autosomal recessive inheritance
4351	MPI	HP:0000114	Proximal tubulopathy
4351	MPI	HP:0000107	Renal cyst
4351	MPI	HP:0001410	Decreased liver function
4351	MPI	HP:0001409	Portal hypertension
4351	MPI	HP:0002014	Diarrhea
4351	MPI	HP:0002013	Vomiting
4351	MPI	HP:0003593	Infantile onset
4351	MPI	HP:0002243	Protein-losing enteropathy
4351	MPI	HP:0002240	Hepatomegaly
4351	MPI	HP:0002239	Gastrointestinal hemorrhage
4351	MPI	HP:0004855	Reduced protein S activity
4351	MPI	HP:0003642	Type I transferrin isoform profile
4351	MPI	HP:0005543	Reduced protein C activity
4351	MPI	HP:0031842	Lymphangiectasis
4351	MPI	HP:0001977	Abnormal thrombosis
4351	MPI	HP:0001976	Reduced antithrombin III activity
4351	MPI	HP:0001929	Reduced factor XI activity
4351	MPI	HP:0003073	Hypoalbuminemia
4351	MPI	HP:0000707	Abnormality of the nervous system
4351	MPI	HP:0011473	Villous atrophy
4351	MPI	HP:0000825	Hyperinsulinemic hypoglycemia
4351	MPI	HP:0000821	Hypothyroidism
4351	MPI	HP:0040246	Reduced antithrombin antigen
4351	MPI	HP:0003256	Abnormality of the coagulation cascade
4351	MPI	HP:0000969	Edema
4351	MPI	HP:0001508	Failure to thrive
4351	MPI	HP:0012379	Abnormal circulating enzyme concentration or activity
4351	MPI	HP:0001892	Abnormal bleeding
4352	MPL	HP:0025142	Constitutional symptom
4352	MPL	HP:0002488	Acute leukemia
4352	MPL	HP:0001123	Visual field defect
4352	MPL	HP:0001297	Stroke
4352	MPL	HP:0001279	Syncope
4352	MPL	HP:0001250	Seizure
4352	MPL	HP:0001260	Dysarthria
4352	MPL	HP:0031020	Bone marrow hypercellularity
4352	MPL	HP:0000007	Autosomal recessive inheritance
4352	MPL	HP:0000006	Autosomal dominant inheritance
4352	MPL	HP:0002639	Budd-Chiari syndrome
4352	MPL	HP:0002637	Cerebral ischemia
4352	MPL	HP:0001320	Cerebellar vermis hypoplasia
4352	MPL	HP:0002650	Scoliosis
4352	MPL	HP:0012156	Hemophagocytosis
4352	MPL	HP:0012143	Abnormal megakaryocyte morphology
4352	MPL	HP:0025435	Increased circulating lactate dehydrogenase concentration
4352	MPL	HP:0001428	Somatic mutation
4352	MPL	HP:0001433	Hepatosplenomegaly
4352	MPL	HP:0001409	Portal hypertension
4352	MPL	HP:0002716	Lymphadenopathy
4352	MPL	HP:0002027	Abdominal pain
4352	MPL	HP:0003312	Abnormal form of the vertebral bodies
4352	MPL	HP:0002092	Pulmonary arterial hypertension
4352	MPL	HP:0002093	Respiratory insufficiency
4352	MPL	HP:0002039	Anorexia
4352	MPL	HP:0003388	Easy fatigability
4352	MPL	HP:0100576	Amaurosis fugax
4352	MPL	HP:0011902	Abnormal hemoglobin
4352	MPL	HP:0011875	Abnormal platelet morphology
4352	MPL	HP:0003401	Paresthesia
4352	MPL	HP:0002240	Hepatomegaly
4352	MPL	HP:0002239	Gastrointestinal hemorrhage
4352	MPL	HP:0004859	Amegakaryocytic thrombocytopenia
4352	MPL	HP:0002204	Pulmonary embolism
4352	MPL	HP:0100749	Chest pain
4352	MPL	HP:0011974	Myelofibrosis
4352	MPL	HP:0004808	Acute myeloid leukemia
4352	MPL	HP:0001028	Hemangioma
4352	MPL	HP:0002321	Vertigo
4352	MPL	HP:0002315	Headache
4352	MPL	HP:0002326	Transient ischemic attack
4352	MPL	HP:0100659	Abnormal cerebral vascular morphology
4352	MPL	HP:0004936	Venous thrombosis
4352	MPL	HP:0004950	Peripheral arterial stenosis
4352	MPL	HP:0005513	Increased megakaryocyte count
4352	MPL	HP:0005506	Chronic myelogenous leukemia
4352	MPL	HP:0005548	Megakaryocytopenia
4352	MPL	HP:0005547	Myeloproliferative disorder
4352	MPL	HP:0005561	Abnormality of bone marrow cell morphology
4352	MPL	HP:0001977	Abnormal thrombosis
4352	MPL	HP:0001978	Extramedullary hematopoiesis
4352	MPL	HP:0001974	Leukocytosis
4352	MPL	HP:0001945	Fever
4352	MPL	HP:0001903	Anemia
4352	MPL	HP:0004322	Short stature
4352	MPL	HP:0004331	Decreased skull ossification
4352	MPL	HP:0004326	Cachexia
4352	MPL	HP:0004377	Hematological neoplasm
4352	MPL	HP:0003010	Prolonged bleeding time
4352	MPL	HP:0004447	Poikilocytosis
4352	MPL	HP:0004420	Arterial thrombosis
4352	MPL	HP:0004417	Intermittent claudication
4352	MPL	HP:0000822	Hypertension
4352	MPL	HP:0000995	Melanocytic nevus
4352	MPL	HP:0000980	Pallor
4352	MPL	HP:0000979	Purpura
4352	MPL	HP:0000975	Hyperhidrosis
4352	MPL	HP:0000978	Bruising susceptibility
4352	MPL	HP:0000989	Pruritus
4352	MPL	HP:0000967	Petechiae
4352	MPL	HP:0000280	Coarse facial features
4352	MPL	HP:0030057	Autoimmune antibody positivity
4352	MPL	HP:0002829	Arthralgia
4352	MPL	HP:0000225	Gingival bleeding
4352	MPL	HP:0002863	Myelodysplasia
4352	MPL	HP:0031364	Ecchymosis
4352	MPL	HP:0012378	Fatigue
4352	MPL	HP:0005268	Miscarriage
4352	MPL	HP:0000360	Tinnitus
4352	MPL	HP:0001671	Abnormal cardiac septum morphology
4352	MPL	HP:0001681	Angina pectoris
4352	MPL	HP:0001658	Myocardial infarction
4352	MPL	HP:0030157	Flank pain
4352	MPL	HP:0011134	Low-grade fever
4352	MPL	HP:0030242	Portal vein thrombosis
4352	MPL	HP:0000470	Short neck
4352	MPL	HP:0001744	Splenomegaly
4352	MPL	HP:0000421	Epistaxis
4352	MPL	HP:0001824	Weight loss
4352	MPL	HP:0001892	Abnormal bleeding
4352	MPL	HP:0001894	Thrombocytosis
4352	MPL	HP:0001872	Abnormality of thrombocytes
4352	MPL	HP:0001871	Abnormality of blood and blood-forming tissues
4352	MPL	HP:0001873	Thrombocytopenia
4352	MPL	HP:0001876	Pancytopenia
4353	MPO	HP:0002423	Long-tract signs
4353	MPO	HP:0002511	Alzheimer disease
4353	MPO	HP:0000007	Autosomal recessive inheritance
4353	MPO	HP:0000006	Autosomal dominant inheritance
4353	MPO	HP:0001300	Parkinsonism
4353	MPO	HP:0410054	Decreased circulating GABA concentration
4353	MPO	HP:0002715	Abnormality of the immune system
4353	MPO	HP:0002185	Neurofibrillary tangles
4353	MPO	HP:0003581	Adult onset
4353	MPO	HP:0001939	Abnormality of metabolism/homeostasis
4353	MPO	HP:0000726	Dementia
4353	MPO	HP:0001871	Abnormality of blood and blood-forming tissues
4358	MPV17	HP:0001178	Ulnar claw
4358	MPV17	HP:0002490	Increased CSF lactate
4358	MPV17	HP:0002460	Distal muscle weakness
4358	MPV17	HP:0007230	Decreased distal sensory nerve action potential
4358	MPV17	HP:0001270	Motor delay
4358	MPV17	HP:0001288	Gait disturbance
4358	MPV17	HP:0001284	Areflexia
4358	MPV17	HP:0001250	Seizure
4358	MPV17	HP:0001252	Hypotonia
4358	MPV17	HP:0001251	Ataxia
4358	MPV17	HP:0001265	Hyporeflexia
4358	MPV17	HP:0001263	Global developmental delay
4358	MPV17	HP:0002505	Loss of ambulation
4358	MPV17	HP:0001397	Hepatic steatosis
4358	MPV17	HP:0001396	Cholestasis
4358	MPV17	HP:0001399	Hepatic failure
4358	MPV17	HP:0001394	Cirrhosis
4358	MPV17	HP:0007460	Autoamputation of digits
4358	MPV17	HP:0006121	Acral ulceration
4358	MPV17	HP:0002661	Painless fractures due to injury
4358	MPV17	HP:0001332	Dystonia
4358	MPV17	HP:0002659	Increased susceptibility to fractures
4358	MPV17	HP:0000007	Autosomal recessive inheritance
4358	MPV17	HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures
4358	MPV17	HP:0001404	Hepatocellular necrosis
4358	MPV17	HP:0001403	Macrovesicular hepatic steatosis
4358	MPV17	HP:0001402	Hepatocellular carcinoma
4358	MPV17	HP:0001414	Microvesicular hepatic steatosis
4358	MPV17	HP:0001413	Micronodular cirrhosis
4358	MPV17	HP:0002014	Diarrhea
4358	MPV17	HP:0002013	Vomiting
4358	MPV17	HP:0003323	Progressive muscle weakness
4358	MPV17	HP:0002098	Respiratory distress
4358	MPV17	HP:0030948	Elevated gamma-glutamyltransferase level
4358	MPV17	HP:0003380	Decreased number of peripheral myelinated nerve fibers
4358	MPV17	HP:0008180	Mildly elevated creatine kinase
4358	MPV17	HP:0003477	Peripheral axonal neuropathy
4358	MPV17	HP:0002136	Broad-based gait
4358	MPV17	HP:0003444	EMG: chronic denervation signs
4358	MPV17	HP:0011924	Decreased activity of mitochondrial complex III
4358	MPV17	HP:0011923	Decreased activity of mitochondrial complex I
4358	MPV17	HP:0003593	Infantile onset
4358	MPV17	HP:0002240	Hepatomegaly
4358	MPV17	HP:0007021	Pain insensitivity
4358	MPV17	HP:0008347	Decreased activity of mitochondrial complex IV
4358	MPV17	HP:0003693	Distal amyotrophy
4358	MPV17	HP:0003676	Progressive
4358	MPV17	HP:0009830	Peripheral neuropathy
4358	MPV17	HP:0007141	Sensorimotor neuropathy
4358	MPV17	HP:0003621	Juvenile onset
4358	MPV17	HP:0000639	Nystagmus
4358	MPV17	HP:0001943	Hypoglycemia
4358	MPV17	HP:0001942	Metabolic acidosis
4358	MPV17	HP:0009027	Foot dorsiflexor weakness
4358	MPV17	HP:0001988	Recurrent hypoglycemia
4358	MPV17	HP:0004322	Short stature
4358	MPV17	HP:0006994	Diffuse leukoencephalopathy
4358	MPV17	HP:0031956	Elevated circulating aspartate aminotransferase concentration
4358	MPV17	HP:0031964	Elevated circulating alanine aminotransferase concentration
4358	MPV17	HP:0006937	Impaired distal tactile sensation
4358	MPV17	HP:0003128	Lactic acidosis
4358	MPV17	HP:0012804	Corneal ulceration
4358	MPV17	HP:0003202	Skeletal muscle atrophy
4358	MPV17	HP:0003270	Abdominal distention
4358	MPV17	HP:0000952	Jaundice
4358	MPV17	HP:0001541	Ascites
4358	MPV17	HP:0001508	Failure to thrive
4358	MPV17	HP:0001510	Growth delay
4358	MPV17	HP:0006582	Reye syndrome-like episodes
4358	MPV17	HP:0006579	Prolonged neonatal jaundice
4358	MPV17	HP:0006554	Acute hepatic failure
4358	MPV17	HP:0002936	Distal sensory impairment
4358	MPV17	HP:0002910	Elevated hepatic transaminase
4358	MPV17	HP:0000495	Recurrent corneal erosions
4358	MPV17	HP:0001765	Hammertoe
4358	MPV17	HP:0001761	Pes cavus
4358	MPV17	HP:0000559	Corneal scarring
4359	MPZ	HP:0001178	Ulnar claw
4359	MPZ	HP:0001171	Split hand
4359	MPZ	HP:0002495	Impaired vibratory sensation
4359	MPZ	HP:0002460	Distal muscle weakness
4359	MPZ	HP:0007328	Impaired pain sensation
4359	MPZ	HP:0010871	Sensory ataxia
4359	MPZ	HP:0002421	Poor head control
4359	MPZ	HP:0003701	Proximal muscle weakness
4359	MPZ	HP:0003712	Skeletal muscle hypertrophy
4359	MPZ	HP:0001270	Motor delay
4359	MPZ	HP:0001284	Areflexia
4359	MPZ	HP:0001252	Hypotonia
4359	MPZ	HP:0001265	Hyporeflexia
4359	MPZ	HP:0007351	Upper limb postural tremor
4359	MPZ	HP:0007340	Lower limb muscle weakness
4359	MPZ	HP:0002540	Inability to walk
4359	MPZ	HP:0012074	Tonic pupil
4359	MPZ	HP:0025335	Delayed ability to stand
4359	MPZ	HP:0001349	Facial diplegia
4359	MPZ	HP:0001324	Muscle weakness
4359	MPZ	HP:0000007	Autosomal recessive inheritance
4359	MPZ	HP:0000006	Autosomal dominant inheritance
4359	MPZ	HP:0001308	Tongue fasciculations
4359	MPZ	HP:0002650	Scoliosis
4359	MPZ	HP:0008954	Intrinsic hand muscle atrophy
4359	MPZ	HP:0002751	Kyphoscoliosis
4359	MPZ	HP:0002747	Respiratory insufficiency due to muscle weakness
4359	MPZ	HP:0002715	Abnormality of the immune system
4359	MPZ	HP:0002015	Dysphagia
4359	MPZ	HP:0002066	Gait ataxia
4359	MPZ	HP:0002070	Limb ataxia
4359	MPZ	HP:0003378	Axonal degeneration/regeneration
4359	MPZ	HP:0003376	Steppage gait
4359	MPZ	HP:0003383	Onion bulb formation
4359	MPZ	HP:0003382	Hypertrophic nerve changes
4359	MPZ	HP:0003380	Decreased number of peripheral myelinated nerve fibers
4359	MPZ	HP:0003477	Peripheral axonal neuropathy
4359	MPZ	HP:0003474	Somatic sensory dysfunction
4359	MPZ	HP:0003469	Peripheral dysmyelination
4359	MPZ	HP:0003487	Babinski sign
4359	MPZ	HP:0003484	Upper limb muscle weakness
4359	MPZ	HP:0003481	Segmental peripheral demyelination/remyelination
4359	MPZ	HP:0003448	Decreased sensory nerve conduction velocity
4359	MPZ	HP:0003449	Cold-induced muscle cramps
4359	MPZ	HP:0002136	Broad-based gait
4359	MPZ	HP:0003431	Decreased motor nerve conduction velocity
4359	MPZ	HP:0002174	Postural tremor
4359	MPZ	HP:0003596	Middle age onset
4359	MPZ	HP:0003593	Infantile onset
4359	MPZ	HP:0003577	Congenital onset
4359	MPZ	HP:0003587	Insidious onset
4359	MPZ	HP:0033362	Recurrent coughing spasms
4359	MPZ	HP:0003693	Distal amyotrophy
4359	MPZ	HP:0003690	Limb muscle weakness
4359	MPZ	HP:0002359	Frequent falls
4359	MPZ	HP:0002375	Hypokinesia
4359	MPZ	HP:0002345	Action tremor
4359	MPZ	HP:0002355	Difficulty walking
4359	MPZ	HP:0003677	Slowly progressive
4359	MPZ	HP:0002317	Unsteady gait
4359	MPZ	HP:0009830	Peripheral neuropathy
4359	MPZ	HP:0007141	Sensorimotor neuropathy
4359	MPZ	HP:0007131	Acute demyelinating polyneuropathy
4359	MPZ	HP:0002312	Clumsiness
4359	MPZ	HP:0003621	Juvenile onset
4359	MPZ	HP:0006829	Severe muscular hypotonia
4359	MPZ	HP:0006886	Impaired distal vibration sensation
4359	MPZ	HP:0000639	Nystagmus
4359	MPZ	HP:0000615	Abnormal pupil morphology
4359	MPZ	HP:0009053	Distal lower limb muscle weakness
4359	MPZ	HP:0009027	Foot dorsiflexor weakness
4359	MPZ	HP:0004336	Myelin outfoldings
4359	MPZ	HP:0031936	Delayed ability to walk
4359	MPZ	HP:0000762	Decreased nerve conduction velocity
4359	MPZ	HP:0003236	Elevated circulating creatine kinase concentration
4359	MPZ	HP:0003202	Skeletal muscle atrophy
4359	MPZ	HP:0001558	Decreased fetal movement
4359	MPZ	HP:0002857	Genu valgum
4359	MPZ	HP:0002839	Urinary bladder sphincter dysfunction
4359	MPZ	HP:0011096	Peripheral demyelination
4359	MPZ	HP:0002936	Distal sensory impairment
4359	MPZ	HP:0002922	Increased CSF protein concentration
4359	MPZ	HP:0000365	Hearing impairment
4359	MPZ	HP:0030175	Myelin tomacula
4359	MPZ	HP:0032988	Persistent head lag
4359	MPZ	HP:0000408	Progressive sensorineural hearing impairment
4359	MPZ	HP:0000407	Sensorineural hearing impairment
4359	MPZ	HP:0030211	Slow pupillary light response
4359	MPZ	HP:0001763	Pes planus
4359	MPZ	HP:0001765	Hammertoe
4359	MPZ	HP:0001762	Talipes equinovarus
4359	MPZ	HP:0001761	Pes cavus
4361	MRE11	HP:0100953	Enlarged interhemispheric fissure
4361	MRE11	HP:0007286	Horizontal jerk nystagmus
4361	MRE11	HP:0001290	Generalized hypotonia
4361	MRE11	HP:0001272	Cerebellar atrophy
4361	MRE11	HP:0001252	Hypotonia
4361	MRE11	HP:0001251	Ataxia
4361	MRE11	HP:0001265	Hyporeflexia
4361	MRE11	HP:0001266	Choreoathetosis
4361	MRE11	HP:0001260	Dysarthria
4361	MRE11	HP:0001388	Joint laxity
4361	MRE11	HP:0001332	Dystonia
4361	MRE11	HP:0000007	Autosomal recessive inheritance
4361	MRE11	HP:0001336	Myoclonus
4361	MRE11	HP:0001310	Dysmetria
4361	MRE11	HP:0001320	Cerebellar vermis hypoplasia
4361	MRE11	HP:0001315	Reduced tendon reflexes
4361	MRE11	HP:0012125	Prostate cancer
4361	MRE11	HP:0002080	Intention tremor
4361	MRE11	HP:0002066	Gait ataxia
4361	MRE11	HP:0002061	Lower limb spasticity
4361	MRE11	HP:0002075	Dysdiadochokinesis
4361	MRE11	HP:0002072	Chorea
4361	MRE11	HP:0003438	Absent Achilles reflex
4361	MRE11	HP:0002198	Dilated fourth ventricle
4361	MRE11	HP:0010544	Vertical nystagmus
4361	MRE11	HP:0003693	Distal amyotrophy
4361	MRE11	HP:0002359	Frequent falls
4361	MRE11	HP:0003676	Progressive
4361	MRE11	HP:0001009	Telangiectasia
4361	MRE11	HP:0002317	Unsteady gait
4361	MRE11	HP:0100615	Ovarian neoplasm
4361	MRE11	HP:0007141	Sensorimotor neuropathy
4361	MRE11	HP:0002310	Orofacial dyskinesia
4361	MRE11	HP:0002307	Drooling
4361	MRE11	HP:0003621	Juvenile onset
4361	MRE11	HP:0006801	Hyperactive deep tendon reflexes
4361	MRE11	HP:0000640	Gaze-evoked nystagmus
4361	MRE11	HP:0000641	Dysmetric saccades
4361	MRE11	HP:0000617	Abnormality of ocular smooth pursuit
4361	MRE11	HP:0000657	Oculomotor apraxia
4361	MRE11	HP:0004322	Short stature
4361	MRE11	HP:0003002	Breast carcinoma
4361	MRE11	HP:0000750	Delayed speech and language development
4361	MRE11	HP:0011463	Childhood onset
4361	MRE11	HP:0000815	Hypergonadotropic hypogonadism
4361	MRE11	HP:0040010	Small posterior fossa
4361	MRE11	HP:0000298	Mask-like facies
4361	MRE11	HP:0007772	Impaired smooth pursuit
4361	MRE11	HP:0002894	Neoplasm of the pancreas
4361	MRE11	HP:0002861	Melanoma
4361	MRE11	HP:0011027	Abnormal fallopian tube morphology
4361	MRE11	HP:0011133	Increased sensitivity to ionizing radiation
4361	MRE11	HP:0001761	Pes cavus
4361	MRE11	HP:0030406	Primary peritoneal carcinoma
4361	MRE11	HP:0000514	Slow saccadic eye movements
4361	MRE11	HP:0000571	Hypometric saccades
4363	ABCC1	HP:0000006	Autosomal dominant inheritance
4363	ABCC1	HP:0003581	Adult onset
4363	ABCC1	HP:0011390	Morphological abnormality of the inner ear
4363	ABCC1	HP:0000360	Tinnitus
4363	ABCC1	HP:0000407	Sensorineural hearing impairment
4436	MSH2	HP:0001123	Visual field defect
4436	MSH2	HP:0007256	Abnormal pyramidal sign
4436	MSH2	HP:0001276	Hypertonia
4436	MSH2	HP:0001288	Gait disturbance
4436	MSH2	HP:0100835	Benign neoplasm of the central nervous system
4436	MSH2	HP:0001250	Seizure
4436	MSH2	HP:0001252	Hypotonia
4436	MSH2	HP:0001260	Dysarthria
4436	MSH2	HP:0002516	Increased intracranial pressure
4436	MSH2	HP:0001371	Flexion contracture
4436	MSH2	HP:0007565	Multiple cafe-au-lait spots
4436	MSH2	HP:0002671	Basal cell carcinoma
4436	MSH2	HP:0000007	Autosomal recessive inheritance
4436	MSH2	HP:0000006	Autosomal dominant inheritance
4436	MSH2	HP:0012174	Glioblastoma multiforme
4436	MSH2	HP:0012118	Laryngeal carcinoma
4436	MSH2	HP:0012114	Endometrial carcinoma
4436	MSH2	HP:0001402	Hepatocellular carcinoma
4436	MSH2	HP:0002024	Malabsorption
4436	MSH2	HP:0002019	Constipation
4436	MSH2	HP:0002017	Nausea and vomiting
4436	MSH2	HP:0002027	Abdominal pain
4436	MSH2	HP:0002076	Migraine
4436	MSH2	HP:0100571	Cardiac diverticulum
4436	MSH2	HP:0100576	Amaurosis fugax
4436	MSH2	HP:0002167	Abnormality of speech or vocalization
4436	MSH2	HP:0010526	Dysgraphia
4436	MSH2	HP:0010524	Agnosia
4436	MSH2	HP:0003401	Paresthesia
4436	MSH2	HP:0003596	Middle age onset
4436	MSH2	HP:0002239	Gastrointestinal hemorrhage
4436	MSH2	HP:0002253	Colonic diverticula
4436	MSH2	HP:0009720	Adenoma sebaceum
4436	MSH2	HP:0009726	Renal neoplasm
4436	MSH2	HP:0100743	Neoplasm of the rectum
4436	MSH2	HP:0007018	Attention deficit hyperactivity disorder
4436	MSH2	HP:0010622	Neoplasm of the skeletal system
4436	MSH2	HP:0002376	Developmental regression
4436	MSH2	HP:0002354	Memory impairment
4436	MSH2	HP:0100660	Dyskinesia
4436	MSH2	HP:0200008	Intestinal polyposis
4436	MSH2	HP:0100684	Salivary gland neoplasm
4436	MSH2	HP:0100615	Ovarian neoplasm
4436	MSH2	HP:0100613	Death in early adulthood
4436	MSH2	HP:0010786	Urinary tract neoplasm
4436	MSH2	HP:0003002	Breast carcinoma
4436	MSH2	HP:0003003	Colon cancer
4436	MSH2	HP:0004377	Hematological neoplasm
4436	MSH2	HP:0004374	Hemiplegia/hemiparesis
4436	MSH2	HP:0003006	Neuroblastoma
4436	MSH2	HP:0100031	Neoplasm of the thyroid gland
4436	MSH2	HP:0000738	Hallucinations
4436	MSH2	HP:0000737	Irritability
4436	MSH2	HP:0000739	Anxiety
4436	MSH2	HP:0000716	Depression
4436	MSH2	HP:0000708	Atypical behavior
4436	MSH2	HP:0008069	Neoplasm of the skin
4436	MSH2	HP:0002896	Neoplasm of the liver
4436	MSH2	HP:0002894	Neoplasm of the pancreas
4436	MSH2	HP:0002893	Pituitary adenoma
4436	MSH2	HP:0001522	Death in infancy
4436	MSH2	HP:0012378	Fatigue
4436	MSH2	HP:0006753	Neoplasm of the stomach
4436	MSH2	HP:0006725	Pancreatic adenocarcinoma
4436	MSH2	HP:0006727	T-cell acute lymphoblastic leukemias
4436	MSH2	HP:0006719	Benign gastrointestinal tract tumors
4436	MSH2	HP:0030410	Sebaceous gland carcinoma
4436	MSH2	HP:0006771	Duodenal adenocarcinoma
4436	MSH2	HP:0006778	Benign genitourinary tract neoplasm
4436	MSH2	HP:0006758	Malignant genitourinary tract tumor
4436	MSH2	HP:0001824	Weight loss
4436	MSH2	HP:0000505	Visual impairment
4437	MSH3	HP:0025274	Ovarian dermoid cyst
4437	MSH3	HP:0000007	Autosomal recessive inheritance
4437	MSH3	HP:0000006	Autosomal dominant inheritance
4437	MSH3	HP:0033770	Gastric adenocarcinoma
4437	MSH3	HP:0012126	Stomach cancer
4437	MSH3	HP:0000138	Ovarian cyst
4437	MSH3	HP:0012114	Endometrial carcinoma
4437	MSH3	HP:0000131	Uterine leiomyoma
4437	MSH3	HP:0001428	Somatic mutation
4437	MSH3	HP:0000107	Renal cyst
4437	MSH3	HP:0004784	Juvenile gastrointestinal polyposis
4437	MSH3	HP:0004783	Duodenal polyposis
4437	MSH3	HP:0009592	Astrocytoma
4437	MSH3	HP:0003596	Middle age onset
4437	MSH3	HP:0100743	Neoplasm of the rectum
4437	MSH3	HP:0200063	Colorectal polyposis
4437	MSH3	HP:0003003	Colon cancer
4437	MSH3	HP:0004394	Multiple gastric polyps
4437	MSH3	HP:0012740	Papilloma
4437	MSH3	HP:0011462	Young adult onset
4437	MSH3	HP:0000854	Thyroid adenoma
4437	MSH3	HP:0008069	Neoplasm of the skin
4437	MSH3	HP:0005227	Adenomatous colonic polyposis
4438	MSH4	HP:0000027	Azoospermia
4438	MSH4	HP:0000007	Autosomal recessive inheritance
4438	MSH4	HP:0008232	Elevated circulating follicle stimulating hormone level
4438	MSH4	HP:0008222	Female infertility
4438	MSH4	HP:0011969	Elevated circulating luteinizing hormone level
4438	MSH4	HP:0011961	Non-obstructive azoospermia
4438	MSH4	HP:0011462	Young adult onset
4438	MSH4	HP:0000798	Oligospermia
4438	MSH4	HP:0000869	Secondary amenorrhea
4438	MSH4	HP:0003251	Male infertility
4438	MSH4	HP:0030087	Abnormal circulating testosterone concentration
4438	MSH4	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration
4438	MSH4	HP:0030345	Abnormal circulating luteinizing hormone concentration
4439	MSH5	HP:0031038	Spermatogenesis maturation arrest
4439	MSH5	HP:0000013	Hypoplasia of the uterus
4439	MSH5	HP:0000007	Autosomal recessive inheritance
4439	MSH5	HP:0000141	Amenorrhea
4439	MSH5	HP:0008232	Elevated circulating follicle stimulating hormone level
4439	MSH5	HP:0008222	Female infertility
4439	MSH5	HP:0011961	Non-obstructive azoospermia
4439	MSH5	HP:0003621	Juvenile onset
4439	MSH5	HP:0011462	Young adult onset
4439	MSH5	HP:0000876	Oligomenorrhea
4439	MSH5	HP:0003251	Male infertility
4478	MSN	HP:0000010	Recurrent urinary tract infections
4478	MSN	HP:0001419	X-linked recessive inheritance
4478	MSN	HP:0002205	Recurrent respiratory infections
4478	MSN	HP:0004313	Decreased circulating antibody level
4478	MSN	HP:0000964	Eczema
4478	MSN	HP:0001888	Lymphopenia
4478	MSN	HP:0001875	Neutropenia
4481	MSR1	HP:0001428	Somatic mutation
4481	MSR1	HP:0002020	Gastroesophageal reflux
4481	MSR1	HP:0100580	Barrett esophagus
4481	MSR1	HP:0004791	Esophageal ulceration
4481	MSR1	HP:0011459	Esophageal carcinoma
4485	MST1	HP:0003700	Generalized amyotrophy
4485	MST1	HP:0001298	Encephalopathy
4485	MST1	HP:0100869	Palmar telangiectasia
4485	MST1	HP:0000083	Renal insufficiency
4485	MST1	HP:0001396	Cholestasis
4485	MST1	HP:0001395	Hepatic fibrosis
4485	MST1	HP:0001394	Cirrhosis
4485	MST1	HP:0002608	Celiac disease
4485	MST1	HP:0012115	Hepatitis
4485	MST1	HP:0001433	Hepatosplenomegaly
4485	MST1	HP:0001409	Portal hypertension
4485	MST1	HP:0001402	Hepatocellular carcinoma
4485	MST1	HP:0002027	Abdominal pain
4485	MST1	HP:0100512	Low levels of vitamin D
4485	MST1	HP:0100513	Low levels of vitamin E
4485	MST1	HP:0100575	Neoplasm of the gallbladder
4485	MST1	HP:0040275	Adenocarcinoma of the large intestine
4485	MST1	HP:0008151	Prolonged prothrombin time
4485	MST1	HP:0003459	Polyclonal elevation of IgM
4485	MST1	HP:0011892	Low levels of vitamin K
4485	MST1	HP:0002240	Hepatomegaly
4485	MST1	HP:0002202	Pleural effusion
4485	MST1	HP:0100727	Histiocytosis
4485	MST1	HP:0010638	Elevated alkaline phosphatase of hepatic origin
4485	MST1	HP:0100651	Type I diabetes mellitus
4485	MST1	HP:0100646	Thyroiditis
4485	MST1	HP:0100626	Chronic hepatic failure
4485	MST1	HP:0001081	Cholelithiasis
4485	MST1	HP:0004905	Low levels of vitamin A
4485	MST1	HP:0001945	Fever
4485	MST1	HP:0003073	Hypoalbuminemia
4485	MST1	HP:0012700	Abnormal large intestine physiology
4485	MST1	HP:0000716	Depression
4485	MST1	HP:0100279	Ulcerative colitis
4485	MST1	HP:0000989	Pruritus
4485	MST1	HP:0000952	Jaundice
4485	MST1	HP:0000939	Osteoporosis
4485	MST1	HP:0000938	Osteopenia
4485	MST1	HP:0001541	Ascites
4485	MST1	HP:0012378	Fatigue
4485	MST1	HP:0011034	Amyloidosis
4485	MST1	HP:0006554	Acute hepatic failure
4485	MST1	HP:0002910	Elevated hepatic transaminase
4485	MST1	HP:0030153	Cholangiocarcinoma
4485	MST1	HP:0002960	Autoimmunity
4485	MST1	HP:0030168	Dilated superficial abdominal veins
4485	MST1	HP:0001635	Congestive heart failure
4485	MST1	HP:0001733	Pancreatitis
4485	MST1	HP:0012440	Abnormal biliary tract morphology
4485	MST1	HP:0001744	Splenomegaly
4485	MST1	HP:0005429	Recurrent systemic pyogenic infections
4485	MST1	HP:0001824	Weight loss
4485	MST1	HP:0000554	Uveitis
4485	MST1	HP:0012522	Spider hemangioma
4485	MST1	HP:0001879	Abnormal eosinophil morphology
4486	MST1R	HP:0000006	Autosomal dominant inheritance
4486	MST1R	HP:0100630	Neoplasia of the nasopharynx
4487	MSX1	HP:0001231	Abnormal fingernail morphology
4487	MSX1	HP:0008872	Feeding difficulties in infancy
4487	MSX1	HP:0410011	Abnormality of masticatory muscle
4487	MSX1	HP:0001328	Specific learning disability
4487	MSX1	HP:0000006	Autosomal dominant inheritance
4487	MSX1	HP:0000164	Abnormality of the dentition
4487	MSX1	HP:0000175	Cleft palate
4487	MSX1	HP:0000147	Polycystic ovaries
4487	MSX1	HP:0006342	Peg-shaped maxillary lateral incisors
4487	MSX1	HP:0006344	Abnormality of primary molar morphology
4487	MSX1	HP:0006347	Microdontia of primary teeth
4487	MSX1	HP:0006349	Agenesis of permanent teeth
4487	MSX1	HP:0006332	Supernumerary maxillary incisor
4487	MSX1	HP:0006336	Short dental root
4487	MSX1	HP:0006292	Abnormality of dental eruption
4487	MSX1	HP:0006297	Enamel hypoplasia
4487	MSX1	HP:0006289	Agenesis of central incisor
4487	MSX1	HP:0002793	Abnormal pattern of respiration
4487	MSX1	HP:0002033	Poor suck
4487	MSX1	HP:0002015	Dysphagia
4487	MSX1	HP:0002213	Fine hair
4487	MSX1	HP:0008402	Ridged fingernail
4487	MSX1	HP:0200153	Agenesis of lateral incisor
4487	MSX1	HP:0200136	Oral-pharyngeal dysphagia
4487	MSX1	HP:0009088	Speech articulation difficulties
4487	MSX1	HP:0000696	Delayed eruption of permanent teeth
4487	MSX1	HP:0000698	Conical tooth
4487	MSX1	HP:0000684	Delayed eruption of teeth
4487	MSX1	HP:0000679	Taurodontia
4487	MSX1	HP:0000677	Oligodontia
4487	MSX1	HP:0000691	Microdontia
4487	MSX1	HP:0000690	Agenesis of maxillary lateral incisor
4487	MSX1	HP:0000689	Dental malocclusion
4487	MSX1	HP:0000685	Hypoplasia of teeth
4487	MSX1	HP:0000687	Widely spaced teeth
4487	MSX1	HP:0000668	Hypodontia
4487	MSX1	HP:0004395	Malnutrition
4487	MSX1	HP:0012746	Thin toenail
4487	MSX1	HP:0000750	Delayed speech and language development
4487	MSX1	HP:0000708	Atypical behavior
4487	MSX1	HP:0011463	Childhood onset
4487	MSX1	HP:0011438	Maternal teratogenic exposure
4487	MSX1	HP:0040115	Abnormal Eustachian tube morphology
4487	MSX1	HP:0100336	Bilateral cleft lip
4487	MSX1	HP:0100337	Bilateral cleft palate
4487	MSX1	HP:0100334	Unilateral cleft palate
4487	MSX1	HP:0100335	Non-midline cleft lip
4487	MSX1	HP:0010294	Palate fistula
4487	MSX1	HP:0100267	Lip pit
4487	MSX1	HP:0000971	Abnormal sweat gland morphology
4487	MSX1	HP:0008070	Sparse hair
4487	MSX1	HP:0001597	Abnormality of the nail
4487	MSX1	HP:0000271	Abnormality of the face
4487	MSX1	HP:0001598	Concave nail
4487	MSX1	HP:0005105	Abnormal nasal morphology
4487	MSX1	HP:0001572	Macrodontia
4487	MSX1	HP:0000220	Velopharyngeal insufficiency
4487	MSX1	HP:0001561	Polyhydramnios
4487	MSX1	HP:0000232	Everted lower lip vermilion
4487	MSX1	HP:0001537	Umbilical hernia
4487	MSX1	HP:0000202	Orofacial cleft
4487	MSX1	HP:0000204	Cleft upper lip
4487	MSX1	HP:0001518	Small for gestational age
4487	MSX1	HP:0011078	Abnormality of canine
4487	MSX1	HP:0011053	Agenesis of mandibular premolar
4487	MSX1	HP:0011051	Agenesis of premolar
4487	MSX1	HP:0011056	Agenesis of first permanent molar tooth
4487	MSX1	HP:0011044	Abnormal number of permanent teeth
4487	MSX1	HP:0000389	Chronic otitis media
4487	MSX1	HP:0005216	Impaired mastication
4487	MSX1	HP:0001611	Hypernasal speech
4487	MSX1	HP:0006482	Abnormality of dental morphology
4487	MSX1	HP:0001696	Situs inversus totalis
4487	MSX1	HP:0031469	Low self esteem
4487	MSX1	HP:0000327	Hypoplasia of the maxilla
4487	MSX1	HP:0005324	Disturbance of facial expression
4487	MSX1	HP:0000403	Recurrent otitis media
4487	MSX1	HP:0000405	Conductive hearing impairment
4487	MSX1	HP:0012472	Eclabion
4487	MSX1	HP:0001792	Small nail
4487	MSX1	HP:0000419	Abnormal nasal septum morphology
4487	MSX1	HP:0001762	Talipes equinovarus
4487	MSX1	HP:0001808	Fragile nails
4487	MSX1	HP:0001804	Hypoplastic fingernail
4487	MSX1	HP:0001807	Ridged nail
4487	MSX1	HP:0001800	Hypoplastic toenails
4487	MSX1	HP:0001803	Nail pits
4487	MSX1	HP:0011219	Short face
4488	MSX2	HP:0001156	Brachydactyly
4488	MSX2	HP:0002475	Myelomeningocele
4488	MSX2	HP:0001123	Visual field defect
4488	MSX2	HP:0001199	Triphalangeal thumb
4488	MSX2	HP:0008551	Microtia
4488	MSX2	HP:0100809	Scalp tenderness
4488	MSX2	HP:0025247	Dermoid cyst
4488	MSX2	HP:0001250	Seizure
4488	MSX2	HP:0001249	Intellectual disability
4488	MSX2	HP:0007385	Aplasia cutis congenita of scalp
4488	MSX2	HP:0002697	Parietal foramina
4488	MSX2	HP:0001363	Craniosynostosis
4488	MSX2	HP:0000006	Autosomal dominant inheritance
4488	MSX2	HP:0002645	Wormian bones
4488	MSX2	HP:0000185	Cleft soft palate
4488	MSX2	HP:0000175	Cleft palate
4488	MSX2	HP:0410030	Cleft lip
4488	MSX2	HP:0002762	Multiple exostoses
4488	MSX2	HP:0002013	Vomiting
4488	MSX2	HP:0002007	Frontal bossing
4488	MSX2	HP:0002085	Occipital encephalocele
4488	MSX2	HP:0002084	Encephalocele
4488	MSX2	HP:0003593	Infantile onset
4488	MSX2	HP:0002315	Headache
4488	MSX2	HP:0008497	Congenital craniofacial dysostosis
4488	MSX2	HP:0000601	Hypotelorism
4488	MSX2	HP:0011330	Metopic synostosis
4488	MSX2	HP:0011318	Bicoronal synostosis
4488	MSX2	HP:0011315	Unicoronal synostosis
4488	MSX2	HP:0011304	Broad thumb
4488	MSX2	HP:0012721	Venous malformation
4488	MSX2	HP:0004492	Widely patent fontanelles and sutures
4488	MSX2	HP:0000894	Short clavicles
4488	MSX2	HP:0000932	Abnormal posterior cranial fossa morphology
4488	MSX2	HP:0040197	Encephalomalacia
4488	MSX2	HP:0000262	Turricephaly
4488	MSX2	HP:0000256	Macrocephaly
4488	MSX2	HP:0000243	Trigonocephaly
4488	MSX2	HP:0000248	Brachycephaly
4488	MSX2	HP:0000204	Cleft upper lip
4488	MSX2	HP:0011069	Supernumerary tooth
4488	MSX2	HP:0012480	Abnormal cerebral vein morphology
4488	MSX2	HP:0000592	Blue sclerae
4488	MSX2	HP:0000540	Hypermetropia
4488	MSX2	HP:0000545	Myopia
4507	MTAP	HP:0003701	Proximal muscle weakness
4507	MTAP	HP:0002669	Osteosarcoma
4507	MTAP	HP:0000006	Autosomal dominant inheritance
4507	MTAP	HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures
4507	MTAP	HP:0002756	Pathologic fracture
4507	MTAP	HP:0003325	Limb-girdle muscle weakness
4507	MTAP	HP:0002216	Premature graying of hair
4507	MTAP	HP:0003690	Limb muscle weakness
4507	MTAP	HP:0003676	Progressive
4507	MTAP	HP:0003084	Fractures of the long bones
4507	MTAP	HP:0005686	Patchy osteosclerosis
4507	MTAP	HP:0003198	Myopathy
4507	MTAP	HP:0003202	Skeletal muscle atrophy
4507	MTAP	HP:0100254	Stenosis of the medullary cavity of the long bones
4507	MTAP	HP:0000978	Bruising susceptibility
4507	MTAP	HP:0000977	Soft skin
4507	MTAP	HP:0000963	Thin skin
4507	MTAP	HP:0000938	Osteopenia
4507	MTAP	HP:0100244	Fibrosarcoma
4507	MTAP	HP:0005045	Diaphyseal cortical sclerosis
4507	MTAP	HP:0031367	Metaphyseal striations
4507	MTAP	HP:0007819	Presenile cataracts
4507	MTAP	HP:0012315	Histiocytoma
4507	MTAP	HP:0002979	Bowing of the legs
4508	MT-ATP6	HP:0002483	Bulbar signs
4508	MT-ATP6	HP:0002490	Increased CSF lactate
4508	MT-ATP6	HP:0001133	Constriction of peripheral visual field
4508	MT-ATP6	HP:0001136	Retinal arteriolar tortuosity
4508	MT-ATP6	HP:0001138	Optic neuropathy
4508	MT-ATP6	HP:0001112	Leber optic atrophy
4508	MT-ATP6	HP:0002446	Astrocytosis
4508	MT-ATP6	HP:0007256	Abnormal pyramidal sign
4508	MT-ATP6	HP:0007240	Progressive gait ataxia
4508	MT-ATP6	HP:0010864	Intellectual disability, severe
4508	MT-ATP6	HP:0003739	Myoclonic spasms
4508	MT-ATP6	HP:0003737	Mitochondrial myopathy
4508	MT-ATP6	HP:0003701	Proximal muscle weakness
4508	MT-ATP6	HP:0001276	Hypertonia
4508	MT-ATP6	HP:0001271	Polyneuropathy
4508	MT-ATP6	HP:0001288	Gait disturbance
4508	MT-ATP6	HP:0001285	Spastic tetraparesis
4508	MT-ATP6	HP:0001256	Intellectual disability, mild
4508	MT-ATP6	HP:0001250	Seizure
4508	MT-ATP6	HP:0001251	Ataxia
4508	MT-ATP6	HP:0001265	Hyporeflexia
4508	MT-ATP6	HP:0001266	Choreoathetosis
4508	MT-ATP6	HP:0001260	Dysarthria
4508	MT-ATP6	HP:0001263	Global developmental delay
4508	MT-ATP6	HP:0001257	Spasticity
4508	MT-ATP6	HP:0002572	Episodic vomiting
4508	MT-ATP6	HP:0007374	Atrophy/Degeneration involving the caudate nucleus
4508	MT-ATP6	HP:0007340	Lower limb muscle weakness
4508	MT-ATP6	HP:0003829	Typified by incomplete penetrance
4508	MT-ATP6	HP:0002505	Loss of ambulation
4508	MT-ATP6	HP:0000091	Abnormal renal tubule morphology
4508	MT-ATP6	HP:0001399	Hepatic failure
4508	MT-ATP6	HP:0001347	Hyperreflexia
4508	MT-ATP6	HP:0001332	Dystonia
4508	MT-ATP6	HP:0001324	Muscle weakness
4508	MT-ATP6	HP:0001336	Myoclonus
4508	MT-ATP6	HP:0001317	Abnormal cerebellum morphology
4508	MT-ATP6	HP:0007688	Undetectable light- and dark-adapted electroretinogram
4508	MT-ATP6	HP:0008969	Leg muscle stiffness
4508	MT-ATP6	HP:0008947	Infantile muscular hypotonia
4508	MT-ATP6	HP:0001427	Mitochondrial inheritance
4508	MT-ATP6	HP:0002020	Gastroesophageal reflux
4508	MT-ATP6	HP:0003348	Hyperalaninemia
4508	MT-ATP6	HP:0002015	Dysphagia
4508	MT-ATP6	HP:0002094	Dyspnea
4508	MT-ATP6	HP:0002069	Bilateral tonic-clonic seizure
4508	MT-ATP6	HP:0002066	Gait ataxia
4508	MT-ATP6	HP:0003394	Muscle spasm
4508	MT-ATP6	HP:0002063	Rigidity
4508	MT-ATP6	HP:0002061	Lower limb spasticity
4508	MT-ATP6	HP:0002072	Chorea
4508	MT-ATP6	HP:0002045	Hypothermia
4508	MT-ATP6	HP:0003477	Peripheral axonal neuropathy
4508	MT-ATP6	HP:0003487	Babinski sign
4508	MT-ATP6	HP:0003484	Upper limb muscle weakness
4508	MT-ATP6	HP:0002151	Increased serum lactate
4508	MT-ATP6	HP:0003481	Segmental peripheral demyelination/remyelination
4508	MT-ATP6	HP:0002123	Generalized myoclonic seizure
4508	MT-ATP6	HP:0002120	Cerebral cortical atrophy
4508	MT-ATP6	HP:0002119	Ventriculomegaly
4508	MT-ATP6	HP:0002104	Apnea
4508	MT-ATP6	HP:0002166	Impaired vibration sensation in the lower limbs
4508	MT-ATP6	HP:0002167	Abnormality of speech or vocalization
4508	MT-ATP6	HP:0002174	Postural tremor
4508	MT-ATP6	HP:0002273	Tetraparesis
4508	MT-ATP6	HP:0003572	Low plasma citrulline
4508	MT-ATP6	HP:0002240	Hepatomegaly
4508	MT-ATP6	HP:0004885	Episodic respiratory distress
4508	MT-ATP6	HP:0200125	Mitochondrial respiratory chain defects
4508	MT-ATP6	HP:0007020	Progressive spastic paraplegia
4508	MT-ATP6	HP:0008316	Abnormal mitochondria in muscle tissue
4508	MT-ATP6	HP:0002396	Cogwheel rigidity
4508	MT-ATP6	HP:0002359	Frequent falls
4508	MT-ATP6	HP:0002376	Developmental regression
4508	MT-ATP6	HP:0002355	Difficulty walking
4508	MT-ATP6	HP:0003648	Lacticaciduria
4508	MT-ATP6	HP:0002315	Headache
4508	MT-ATP6	HP:0100660	Dyskinesia
4508	MT-ATP6	HP:0009830	Peripheral neuropathy
4508	MT-ATP6	HP:0100611	Multiple glomerular cysts
4508	MT-ATP6	HP:0007141	Sensorimotor neuropathy
4508	MT-ATP6	HP:0007117	Corticospinal tract atrophy
4508	MT-ATP6	HP:0007108	Demyelinating peripheral neuropathy
4508	MT-ATP6	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4508	MT-ATP6	HP:0000639	Nystagmus
4508	MT-ATP6	HP:0000648	Optic atrophy
4508	MT-ATP6	HP:0000618	Blindness
4508	MT-ATP6	HP:0001945	Fever
4508	MT-ATP6	HP:0000622	Blurred vision
4508	MT-ATP6	HP:0000603	Central scotoma
4508	MT-ATP6	HP:0012697	Small basal ganglia
4508	MT-ATP6	HP:0009053	Distal lower limb muscle weakness
4508	MT-ATP6	HP:0011344	Severe global developmental delay
4508	MT-ATP6	HP:0004322	Short stature
4508	MT-ATP6	HP:0004309	Ventricular preexcitation
4508	MT-ATP6	HP:0006999	Basal ganglia gliosis
4508	MT-ATP6	HP:0012751	Abnormal basal ganglia MRI signal intensity
4508	MT-ATP6	HP:0000763	Sensory neuropathy
4508	MT-ATP6	HP:0000737	Irritability
4508	MT-ATP6	HP:0000750	Delayed speech and language development
4508	MT-ATP6	HP:0000726	Dementia
4508	MT-ATP6	HP:0030588	Abnormal visual field test
4508	MT-ATP6	HP:0012758	Neurodevelopmental delay
4508	MT-ATP6	HP:0003198	Myopathy
4508	MT-ATP6	HP:0012841	Retinal vascular tortuosity
4508	MT-ATP6	HP:0000819	Diabetes mellitus
4508	MT-ATP6	HP:0000816	Abnormality of Krebs cycle metabolism
4508	MT-ATP6	HP:0003200	Ragged-red muscle fibers
4508	MT-ATP6	HP:0011675	Arrhythmia
4508	MT-ATP6	HP:0005115	Supraventricular arrhythmia
4508	MT-ATP6	HP:0007763	Retinal telangiectasia
4508	MT-ATP6	HP:0007768	Central retinal vessel vascular tortuosity
4508	MT-ATP6	HP:0002883	Hyperventilation
4508	MT-ATP6	HP:0001508	Failure to thrive
4508	MT-ATP6	HP:0007814	Retinal pigment epithelial mottling
4508	MT-ATP6	HP:0007811	Horizontal pendular nystagmus
4508	MT-ATP6	HP:0000365	Hearing impairment
4508	MT-ATP6	HP:0031434	Abnormal prosody
4508	MT-ATP6	HP:0001644	Dilated cardiomyopathy
4508	MT-ATP6	HP:0001639	Hypertrophic cardiomyopathy
4508	MT-ATP6	HP:0001638	Cardiomyopathy
4508	MT-ATP6	HP:0007924	Slow decrease in visual acuity
4508	MT-ATP6	HP:0000407	Sensorineural hearing impairment
4508	MT-ATP6	HP:0031546	Cardiac conduction abnormality
4508	MT-ATP6	HP:0012469	Infantile spasms
4508	MT-ATP6	HP:0000488	Retinopathy
4508	MT-ATP6	HP:0006799	Basal ganglia cysts
4508	MT-ATP6	HP:0000510	Rod-cone dystrophy
4508	MT-ATP6	HP:0000597	Ophthalmoparesis
4508	MT-ATP6	HP:0000580	Pigmentary retinopathy
4508	MT-ATP6	HP:0000576	Centrocecal scotoma
4508	MT-ATP6	HP:0000572	Visual loss
4508	MT-ATP6	HP:0012514	Lower limb pain
4508	MT-ATP6	HP:0000543	Optic disc pallor
4509	MT-ATP8	HP:0001252	Hypotonia
4509	MT-ATP8	HP:0001251	Ataxia
4509	MT-ATP8	HP:0001315	Reduced tendon reflexes
4509	MT-ATP8	HP:0002750	Delayed skeletal maturation
4509	MT-ATP8	HP:0004622	Progressive intervertebral space narrowing
4509	MT-ATP8	HP:0003457	EMG abnormality
4509	MT-ATP8	HP:0004374	Hemiplegia/hemiparesis
4509	MT-ATP8	HP:0000830	Anterior hypopituitarism
4509	MT-ATP8	HP:0003202	Skeletal muscle atrophy
4509	MT-ATP8	HP:0003200	Ragged-red muscle fibers
4509	MT-ATP8	HP:0007703	Abnormality of retinal pigmentation
4509	MT-ATP8	HP:0000365	Hearing impairment
4509	MT-ATP8	HP:0001709	Third degree atrioventricular block
4509	MT-ATP8	HP:0000590	Progressive external ophthalmoplegia
4511	MT-TC	HP:0008619	Bilateral sensorineural hearing impairment
4511	MT-TC	HP:0003737	Mitochondrial myopathy
4511	MT-TC	HP:0002401	Stroke-like episode
4511	MT-TC	HP:0001298	Encephalopathy
4511	MT-TC	HP:0001269	Hemiparesis
4511	MT-TC	HP:0002572	Episodic vomiting
4511	MT-TC	HP:0003828	Variable expressivity
4511	MT-TC	HP:0001427	Mitochondrial inheritance
4511	MT-TC	HP:0002069	Bilateral tonic-clonic seizure
4511	MT-TC	HP:0002076	Migraine
4511	MT-TC	HP:0100704	Cerebral visual impairment
4511	MT-TC	HP:0000602	Ophthalmoplegia
4511	MT-TC	HP:0000726	Dementia
4511	MT-TC	HP:0003198	Myopathy
4511	MT-TC	HP:0003128	Lactic acidosis
4511	MT-TC	HP:0000819	Diabetes mellitus
4511	MT-TC	HP:0000822	Hypertension
4511	MT-TC	HP:0003200	Ragged-red muscle fibers
4511	MT-TC	HP:0011675	Arrhythmia
4511	MT-TC	HP:0001507	Growth abnormality
4511	MT-TC	HP:0012377	Hemianopia
4511	MT-TC	HP:0005162	Abnormal left ventricular function
4511	MT-TC	HP:0001635	Congestive heart failure
4511	MT-TC	HP:0000408	Progressive sensorineural hearing impairment
4511	MT-TC	HP:0001716	Wolff-Parkinson-White syndrome
4511	MT-TC	HP:0001712	Left ventricular hypertrophy
4511	MT-TC	HP:0000519	Developmental cataract
4512	MT-CO1	HP:0002490	Increased CSF lactate
4512	MT-CO1	HP:0010969	Abnormality of glycolipid metabolism
4512	MT-CO1	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4512	MT-CO1	HP:0007302	Bipolar affective disorder
4512	MT-CO1	HP:0008619	Bilateral sensorineural hearing impairment
4512	MT-CO1	HP:0003738	Exercise-induced myalgia
4512	MT-CO1	HP:0003737	Mitochondrial myopathy
4512	MT-CO1	HP:0002401	Stroke-like episode
4512	MT-CO1	HP:0001298	Encephalopathy
4512	MT-CO1	HP:0025268	Stuttering
4512	MT-CO1	HP:0001274	Agenesis of corpus callosum
4512	MT-CO1	HP:0001270	Motor delay
4512	MT-CO1	HP:0001269	Hemiparesis
4512	MT-CO1	HP:0001288	Gait disturbance
4512	MT-CO1	HP:0001250	Seizure
4512	MT-CO1	HP:0001251	Ataxia
4512	MT-CO1	HP:0002579	Gastrointestinal dysmotility
4512	MT-CO1	HP:0001263	Global developmental delay
4512	MT-CO1	HP:0002572	Episodic vomiting
4512	MT-CO1	HP:0007359	Focal-onset seizure
4512	MT-CO1	HP:0007340	Lower limb muscle weakness
4512	MT-CO1	HP:0003828	Variable expressivity
4512	MT-CO1	HP:0000083	Renal insufficiency
4512	MT-CO1	HP:0000097	Focal segmental glomerulosclerosis
4512	MT-CO1	HP:0000093	Proteinuria
4512	MT-CO1	HP:0000044	Hypogonadotropic hypogonadism
4512	MT-CO1	HP:0001345	Psychotic mentation
4512	MT-CO1	HP:0001328	Specific learning disability
4512	MT-CO1	HP:0001324	Muscle weakness
4512	MT-CO1	HP:0001336	Myoclonus
4512	MT-CO1	HP:0001315	Reduced tendon reflexes
4512	MT-CO1	HP:0025435	Increased circulating lactate dehydrogenase concentration
4512	MT-CO1	HP:0008997	Proximal muscle weakness in upper limbs
4512	MT-CO1	HP:0000114	Proximal tubulopathy
4512	MT-CO1	HP:0001427	Mitochondrial inheritance
4512	MT-CO1	HP:0000112	Nephropathy
4512	MT-CO1	HP:0002019	Constipation
4512	MT-CO1	HP:0040319	Dark urine
4512	MT-CO1	HP:0002014	Diarrhea
4512	MT-CO1	HP:0002013	Vomiting
4512	MT-CO1	HP:0005978	Type II diabetes mellitus
4512	MT-CO1	HP:0002092	Pulmonary arterial hypertension
4512	MT-CO1	HP:0002069	Bilateral tonic-clonic seizure
4512	MT-CO1	HP:0003394	Muscle spasm
4512	MT-CO1	HP:0002079	Hypoplasia of the corpus callosum
4512	MT-CO1	HP:0002076	Migraine
4512	MT-CO1	HP:0100520	Oliguria
4512	MT-CO1	HP:0003477	Peripheral axonal neuropathy
4512	MT-CO1	HP:0002153	Hyperkalemia
4512	MT-CO1	HP:0002151	Increased serum lactate
4512	MT-CO1	HP:0002120	Cerebral cortical atrophy
4512	MT-CO1	HP:0002135	Basal ganglia calcification
4512	MT-CO1	HP:0002167	Abnormality of speech or vocalization
4512	MT-CO1	HP:0002174	Postural tremor
4512	MT-CO1	HP:0100704	Cerebral visual impairment
4512	MT-CO1	HP:0003554	Type 2 muscle fiber atrophy
4512	MT-CO1	HP:0003546	Exercise intolerance
4512	MT-CO1	HP:0003558	Viral infection-induced rhabdomyolysis
4512	MT-CO1	HP:0200125	Mitochondrial respiratory chain defects
4512	MT-CO1	HP:0008316	Abnormal mitochondria in muscle tissue
4512	MT-CO1	HP:0008305	Exercise-induced myoglobinuria
4512	MT-CO1	HP:0007067	Distal peripheral sensory neuropathy
4512	MT-CO1	HP:0002381	Aphasia
4512	MT-CO1	HP:0001045	Vitiligo
4512	MT-CO1	HP:0002355	Difficulty walking
4512	MT-CO1	HP:0002353	EEG abnormality
4512	MT-CO1	HP:0002354	Memory impairment
4512	MT-CO1	HP:0003652	Recurrent myoglobinuria
4512	MT-CO1	HP:0002331	Recurrent paroxysmal headache
4512	MT-CO1	HP:0100651	Type I diabetes mellitus
4512	MT-CO1	HP:0009830	Peripheral neuropathy
4512	MT-CO1	HP:0100614	Myositis
4512	MT-CO1	HP:0010794	Impaired visuospatial constructive cognition
4512	MT-CO1	HP:0007159	Fluctuations in consciousness
4512	MT-CO1	HP:0010783	Erythema
4512	MT-CO1	HP:0007141	Sensorimotor neuropathy
4512	MT-CO1	HP:0005521	Disseminated intravascular coagulation
4512	MT-CO1	HP:0000648	Optic atrophy
4512	MT-CO1	HP:0001945	Fever
4512	MT-CO1	HP:0000622	Blurred vision
4512	MT-CO1	HP:0000602	Ophthalmoplegia
4512	MT-CO1	HP:0000603	Central scotoma
4512	MT-CO1	HP:0001903	Anemia
4512	MT-CO1	HP:0001919	Acute kidney injury
4512	MT-CO1	HP:0004322	Short stature
4512	MT-CO1	HP:0004309	Ventricular preexcitation
4512	MT-CO1	HP:0004389	Intestinal pseudo-obstruction
4512	MT-CO1	HP:0004372	Reduced consciousness/confusion
4512	MT-CO1	HP:0000751	Personality changes
4512	MT-CO1	HP:0100027	Recurrent pancreatitis
4512	MT-CO1	HP:0000739	Anxiety
4512	MT-CO1	HP:0000736	Short attention span
4512	MT-CO1	HP:0012707	Elevated brain lactate level by MRS
4512	MT-CO1	HP:0000716	Depression
4512	MT-CO1	HP:0000726	Dementia
4512	MT-CO1	HP:0000709	Psychosis
4512	MT-CO1	HP:0012766	Widened cerebral subarachnoid space
4512	MT-CO1	HP:0011442	Abnormal central motor function
4512	MT-CO1	HP:0003198	Myopathy
4512	MT-CO1	HP:0003128	Lactic acidosis
4512	MT-CO1	HP:0012841	Retinal vascular tortuosity
4512	MT-CO1	HP:0000819	Diabetes mellitus
4512	MT-CO1	HP:0000829	Hypoparathyroidism
4512	MT-CO1	HP:0000822	Hypertension
4512	MT-CO1	HP:0000821	Hypothyroidism
4512	MT-CO1	HP:0003200	Ragged-red muscle fibers
4512	MT-CO1	HP:0045037	Abnormality of jaw muscles
4512	MT-CO1	HP:0000998	Hypertrichosis
4512	MT-CO1	HP:0011675	Arrhythmia
4512	MT-CO1	HP:0007763	Retinal telangiectasia
4512	MT-CO1	HP:0001508	Failure to thrive
4512	MT-CO1	HP:0001507	Growth abnormality
4512	MT-CO1	HP:0012377	Hemianopia
4512	MT-CO1	HP:0005216	Impaired mastication
4512	MT-CO1	HP:0030195	Fatigable weakness of swallowing muscles
4512	MT-CO1	HP:0002910	Elevated hepatic transaminase
4512	MT-CO1	HP:0002922	Increased CSF protein concentration
4512	MT-CO1	HP:0002905	Hyperphosphatemia
4512	MT-CO1	HP:0002901	Hypocalcemia
4512	MT-CO1	HP:0005157	Concentric hypertrophic cardiomyopathy
4512	MT-CO1	HP:0005162	Abnormal left ventricular function
4512	MT-CO1	HP:0001644	Dilated cardiomyopathy
4512	MT-CO1	HP:0001639	Hypertrophic cardiomyopathy
4512	MT-CO1	HP:0001635	Congestive heart failure
4512	MT-CO1	HP:0001638	Cardiomyopathy
4512	MT-CO1	HP:0007924	Slow decrease in visual acuity
4512	MT-CO1	HP:0000408	Progressive sensorineural hearing impairment
4512	MT-CO1	HP:0000407	Sensorineural hearing impairment
4512	MT-CO1	HP:0001716	Wolff-Parkinson-White syndrome
4512	MT-CO1	HP:0001712	Left ventricular hypertrophy
4512	MT-CO1	HP:0031546	Cardiac conduction abnormality
4512	MT-CO1	HP:0030234	Highly elevated creatine kinase
4512	MT-CO1	HP:0012444	Brain atrophy
4512	MT-CO1	HP:0000467	Neck muscle weakness
4512	MT-CO1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4512	MT-CO1	HP:0000519	Developmental cataract
4512	MT-CO1	HP:0000580	Pigmentary retinopathy
4512	MT-CO1	HP:0000576	Centrocecal scotoma
4512	MT-CO1	HP:0000590	Progressive external ophthalmoplegia
4512	MT-CO1	HP:0012544	Elevated circulating aldolase concentration
4512	MT-CO1	HP:0000572	Visual loss
4513	MT-CO2	HP:0002490	Increased CSF lactate
4513	MT-CO2	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4513	MT-CO2	HP:0007302	Bipolar affective disorder
4513	MT-CO2	HP:0008619	Bilateral sensorineural hearing impairment
4513	MT-CO2	HP:0003737	Mitochondrial myopathy
4513	MT-CO2	HP:0002401	Stroke-like episode
4513	MT-CO2	HP:0001298	Encephalopathy
4513	MT-CO2	HP:0025268	Stuttering
4513	MT-CO2	HP:0001274	Agenesis of corpus callosum
4513	MT-CO2	HP:0001270	Motor delay
4513	MT-CO2	HP:0001269	Hemiparesis
4513	MT-CO2	HP:0001288	Gait disturbance
4513	MT-CO2	HP:0001250	Seizure
4513	MT-CO2	HP:0001251	Ataxia
4513	MT-CO2	HP:0002579	Gastrointestinal dysmotility
4513	MT-CO2	HP:0001263	Global developmental delay
4513	MT-CO2	HP:0002572	Episodic vomiting
4513	MT-CO2	HP:0007359	Focal-onset seizure
4513	MT-CO2	HP:0003828	Variable expressivity
4513	MT-CO2	HP:0000097	Focal segmental glomerulosclerosis
4513	MT-CO2	HP:0000093	Proteinuria
4513	MT-CO2	HP:0000044	Hypogonadotropic hypogonadism
4513	MT-CO2	HP:0001345	Psychotic mentation
4513	MT-CO2	HP:0001328	Specific learning disability
4513	MT-CO2	HP:0001324	Muscle weakness
4513	MT-CO2	HP:0001336	Myoclonus
4513	MT-CO2	HP:0000114	Proximal tubulopathy
4513	MT-CO2	HP:0001427	Mitochondrial inheritance
4513	MT-CO2	HP:0000112	Nephropathy
4513	MT-CO2	HP:0002019	Constipation
4513	MT-CO2	HP:0002014	Diarrhea
4513	MT-CO2	HP:0002013	Vomiting
4513	MT-CO2	HP:0005978	Type II diabetes mellitus
4513	MT-CO2	HP:0002092	Pulmonary arterial hypertension
4513	MT-CO2	HP:0002069	Bilateral tonic-clonic seizure
4513	MT-CO2	HP:0002079	Hypoplasia of the corpus callosum
4513	MT-CO2	HP:0002076	Migraine
4513	MT-CO2	HP:0003477	Peripheral axonal neuropathy
4513	MT-CO2	HP:0002151	Increased serum lactate
4513	MT-CO2	HP:0002120	Cerebral cortical atrophy
4513	MT-CO2	HP:0002135	Basal ganglia calcification
4513	MT-CO2	HP:0100704	Cerebral visual impairment
4513	MT-CO2	HP:0003546	Exercise intolerance
4513	MT-CO2	HP:0008316	Abnormal mitochondria in muscle tissue
4513	MT-CO2	HP:0007067	Distal peripheral sensory neuropathy
4513	MT-CO2	HP:0002381	Aphasia
4513	MT-CO2	HP:0001045	Vitiligo
4513	MT-CO2	HP:0002353	EEG abnormality
4513	MT-CO2	HP:0002354	Memory impairment
4513	MT-CO2	HP:0002331	Recurrent paroxysmal headache
4513	MT-CO2	HP:0100651	Type I diabetes mellitus
4513	MT-CO2	HP:0009830	Peripheral neuropathy
4513	MT-CO2	HP:0010794	Impaired visuospatial constructive cognition
4513	MT-CO2	HP:0007159	Fluctuations in consciousness
4513	MT-CO2	HP:0010783	Erythema
4513	MT-CO2	HP:0007141	Sensorimotor neuropathy
4513	MT-CO2	HP:0000648	Optic atrophy
4513	MT-CO2	HP:0001945	Fever
4513	MT-CO2	HP:0000602	Ophthalmoplegia
4513	MT-CO2	HP:0001903	Anemia
4513	MT-CO2	HP:0004322	Short stature
4513	MT-CO2	HP:0004389	Intestinal pseudo-obstruction
4513	MT-CO2	HP:0004372	Reduced consciousness/confusion
4513	MT-CO2	HP:0000751	Personality changes
4513	MT-CO2	HP:0100027	Recurrent pancreatitis
4513	MT-CO2	HP:0000739	Anxiety
4513	MT-CO2	HP:0000736	Short attention span
4513	MT-CO2	HP:0012707	Elevated brain lactate level by MRS
4513	MT-CO2	HP:0000716	Depression
4513	MT-CO2	HP:0000726	Dementia
4513	MT-CO2	HP:0000709	Psychosis
4513	MT-CO2	HP:0012766	Widened cerebral subarachnoid space
4513	MT-CO2	HP:0011442	Abnormal central motor function
4513	MT-CO2	HP:0003198	Myopathy
4513	MT-CO2	HP:0003128	Lactic acidosis
4513	MT-CO2	HP:0000819	Diabetes mellitus
4513	MT-CO2	HP:0000829	Hypoparathyroidism
4513	MT-CO2	HP:0000822	Hypertension
4513	MT-CO2	HP:0000821	Hypothyroidism
4513	MT-CO2	HP:0003200	Ragged-red muscle fibers
4513	MT-CO2	HP:0000998	Hypertrichosis
4513	MT-CO2	HP:0011675	Arrhythmia
4513	MT-CO2	HP:0001508	Failure to thrive
4513	MT-CO2	HP:0001507	Growth abnormality
4513	MT-CO2	HP:0012377	Hemianopia
4513	MT-CO2	HP:0002922	Increased CSF protein concentration
4513	MT-CO2	HP:0005157	Concentric hypertrophic cardiomyopathy
4513	MT-CO2	HP:0005162	Abnormal left ventricular function
4513	MT-CO2	HP:0001644	Dilated cardiomyopathy
4513	MT-CO2	HP:0001639	Hypertrophic cardiomyopathy
4513	MT-CO2	HP:0001635	Congestive heart failure
4513	MT-CO2	HP:0001638	Cardiomyopathy
4513	MT-CO2	HP:0000408	Progressive sensorineural hearing impairment
4513	MT-CO2	HP:0000407	Sensorineural hearing impairment
4513	MT-CO2	HP:0001716	Wolff-Parkinson-White syndrome
4513	MT-CO2	HP:0001712	Left ventricular hypertrophy
4513	MT-CO2	HP:0031546	Cardiac conduction abnormality
4513	MT-CO2	HP:0012444	Brain atrophy
4513	MT-CO2	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4513	MT-CO2	HP:0000519	Developmental cataract
4513	MT-CO2	HP:0000580	Pigmentary retinopathy
4513	MT-CO2	HP:0000590	Progressive external ophthalmoplegia
4513	MT-CO2	HP:0000572	Visual loss
4514	MT-CO3	HP:0002490	Increased CSF lactate
4514	MT-CO3	HP:0001138	Optic neuropathy
4514	MT-CO3	HP:0001112	Leber optic atrophy
4514	MT-CO3	HP:0010969	Abnormality of glycolipid metabolism
4514	MT-CO3	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4514	MT-CO3	HP:0007302	Bipolar affective disorder
4514	MT-CO3	HP:0008619	Bilateral sensorineural hearing impairment
4514	MT-CO3	HP:0003738	Exercise-induced myalgia
4514	MT-CO3	HP:0003737	Mitochondrial myopathy
4514	MT-CO3	HP:0002401	Stroke-like episode
4514	MT-CO3	HP:0001298	Encephalopathy
4514	MT-CO3	HP:0025268	Stuttering
4514	MT-CO3	HP:0001271	Polyneuropathy
4514	MT-CO3	HP:0001274	Agenesis of corpus callosum
4514	MT-CO3	HP:0001270	Motor delay
4514	MT-CO3	HP:0001269	Hemiparesis
4514	MT-CO3	HP:0001288	Gait disturbance
4514	MT-CO3	HP:0001250	Seizure
4514	MT-CO3	HP:0001251	Ataxia
4514	MT-CO3	HP:0002579	Gastrointestinal dysmotility
4514	MT-CO3	HP:0001263	Global developmental delay
4514	MT-CO3	HP:0002572	Episodic vomiting
4514	MT-CO3	HP:0007359	Focal-onset seizure
4514	MT-CO3	HP:0007340	Lower limb muscle weakness
4514	MT-CO3	HP:0003828	Variable expressivity
4514	MT-CO3	HP:0003829	Typified by incomplete penetrance
4514	MT-CO3	HP:0000083	Renal insufficiency
4514	MT-CO3	HP:0000097	Focal segmental glomerulosclerosis
4514	MT-CO3	HP:0000093	Proteinuria
4514	MT-CO3	HP:0000044	Hypogonadotropic hypogonadism
4514	MT-CO3	HP:0001345	Psychotic mentation
4514	MT-CO3	HP:0001332	Dystonia
4514	MT-CO3	HP:0001328	Specific learning disability
4514	MT-CO3	HP:0001324	Muscle weakness
4514	MT-CO3	HP:0001336	Myoclonus
4514	MT-CO3	HP:0001315	Reduced tendon reflexes
4514	MT-CO3	HP:0025435	Increased circulating lactate dehydrogenase concentration
4514	MT-CO3	HP:0008997	Proximal muscle weakness in upper limbs
4514	MT-CO3	HP:0000114	Proximal tubulopathy
4514	MT-CO3	HP:0001427	Mitochondrial inheritance
4514	MT-CO3	HP:0000112	Nephropathy
4514	MT-CO3	HP:0002019	Constipation
4514	MT-CO3	HP:0040319	Dark urine
4514	MT-CO3	HP:0002014	Diarrhea
4514	MT-CO3	HP:0002013	Vomiting
4514	MT-CO3	HP:0005978	Type II diabetes mellitus
4514	MT-CO3	HP:0002092	Pulmonary arterial hypertension
4514	MT-CO3	HP:0002069	Bilateral tonic-clonic seizure
4514	MT-CO3	HP:0003394	Muscle spasm
4514	MT-CO3	HP:0002079	Hypoplasia of the corpus callosum
4514	MT-CO3	HP:0002076	Migraine
4514	MT-CO3	HP:0100520	Oliguria
4514	MT-CO3	HP:0003477	Peripheral axonal neuropathy
4514	MT-CO3	HP:0002153	Hyperkalemia
4514	MT-CO3	HP:0002151	Increased serum lactate
4514	MT-CO3	HP:0002120	Cerebral cortical atrophy
4514	MT-CO3	HP:0002135	Basal ganglia calcification
4514	MT-CO3	HP:0002167	Abnormality of speech or vocalization
4514	MT-CO3	HP:0002174	Postural tremor
4514	MT-CO3	HP:0100704	Cerebral visual impairment
4514	MT-CO3	HP:0003554	Type 2 muscle fiber atrophy
4514	MT-CO3	HP:0003546	Exercise intolerance
4514	MT-CO3	HP:0003558	Viral infection-induced rhabdomyolysis
4514	MT-CO3	HP:0200125	Mitochondrial respiratory chain defects
4514	MT-CO3	HP:0008316	Abnormal mitochondria in muscle tissue
4514	MT-CO3	HP:0008305	Exercise-induced myoglobinuria
4514	MT-CO3	HP:0007067	Distal peripheral sensory neuropathy
4514	MT-CO3	HP:0002381	Aphasia
4514	MT-CO3	HP:0001045	Vitiligo
4514	MT-CO3	HP:0002355	Difficulty walking
4514	MT-CO3	HP:0002353	EEG abnormality
4514	MT-CO3	HP:0002354	Memory impairment
4514	MT-CO3	HP:0003652	Recurrent myoglobinuria
4514	MT-CO3	HP:0002331	Recurrent paroxysmal headache
4514	MT-CO3	HP:0100651	Type I diabetes mellitus
4514	MT-CO3	HP:0009830	Peripheral neuropathy
4514	MT-CO3	HP:0100614	Myositis
4514	MT-CO3	HP:0010794	Impaired visuospatial constructive cognition
4514	MT-CO3	HP:0007159	Fluctuations in consciousness
4514	MT-CO3	HP:0010783	Erythema
4514	MT-CO3	HP:0007141	Sensorimotor neuropathy
4514	MT-CO3	HP:0005521	Disseminated intravascular coagulation
4514	MT-CO3	HP:0000648	Optic atrophy
4514	MT-CO3	HP:0001945	Fever
4514	MT-CO3	HP:0000622	Blurred vision
4514	MT-CO3	HP:0000602	Ophthalmoplegia
4514	MT-CO3	HP:0000603	Central scotoma
4514	MT-CO3	HP:0001903	Anemia
4514	MT-CO3	HP:0001919	Acute kidney injury
4514	MT-CO3	HP:0004322	Short stature
4514	MT-CO3	HP:0004309	Ventricular preexcitation
4514	MT-CO3	HP:0004389	Intestinal pseudo-obstruction
4514	MT-CO3	HP:0004372	Reduced consciousness/confusion
4514	MT-CO3	HP:0000751	Personality changes
4514	MT-CO3	HP:0100027	Recurrent pancreatitis
4514	MT-CO3	HP:0000739	Anxiety
4514	MT-CO3	HP:0000736	Short attention span
4514	MT-CO3	HP:0012707	Elevated brain lactate level by MRS
4514	MT-CO3	HP:0000716	Depression
4514	MT-CO3	HP:0000726	Dementia
4514	MT-CO3	HP:0000709	Psychosis
4514	MT-CO3	HP:0012766	Widened cerebral subarachnoid space
4514	MT-CO3	HP:0011442	Abnormal central motor function
4514	MT-CO3	HP:0003198	Myopathy
4514	MT-CO3	HP:0003128	Lactic acidosis
4514	MT-CO3	HP:0012841	Retinal vascular tortuosity
4514	MT-CO3	HP:0000819	Diabetes mellitus
4514	MT-CO3	HP:0000829	Hypoparathyroidism
4514	MT-CO3	HP:0000822	Hypertension
4514	MT-CO3	HP:0000821	Hypothyroidism
4514	MT-CO3	HP:0003200	Ragged-red muscle fibers
4514	MT-CO3	HP:0045037	Abnormality of jaw muscles
4514	MT-CO3	HP:0000998	Hypertrichosis
4514	MT-CO3	HP:0011675	Arrhythmia
4514	MT-CO3	HP:0007763	Retinal telangiectasia
4514	MT-CO3	HP:0007768	Central retinal vessel vascular tortuosity
4514	MT-CO3	HP:0001508	Failure to thrive
4514	MT-CO3	HP:0001507	Growth abnormality
4514	MT-CO3	HP:0012377	Hemianopia
4514	MT-CO3	HP:0005216	Impaired mastication
4514	MT-CO3	HP:0030195	Fatigable weakness of swallowing muscles
4514	MT-CO3	HP:0002910	Elevated hepatic transaminase
4514	MT-CO3	HP:0002922	Increased CSF protein concentration
4514	MT-CO3	HP:0002905	Hyperphosphatemia
4514	MT-CO3	HP:0002901	Hypocalcemia
4514	MT-CO3	HP:0005157	Concentric hypertrophic cardiomyopathy
4514	MT-CO3	HP:0005162	Abnormal left ventricular function
4514	MT-CO3	HP:0001644	Dilated cardiomyopathy
4514	MT-CO3	HP:0001639	Hypertrophic cardiomyopathy
4514	MT-CO3	HP:0001635	Congestive heart failure
4514	MT-CO3	HP:0001638	Cardiomyopathy
4514	MT-CO3	HP:0007924	Slow decrease in visual acuity
4514	MT-CO3	HP:0000408	Progressive sensorineural hearing impairment
4514	MT-CO3	HP:0000407	Sensorineural hearing impairment
4514	MT-CO3	HP:0001716	Wolff-Parkinson-White syndrome
4514	MT-CO3	HP:0001712	Left ventricular hypertrophy
4514	MT-CO3	HP:0031546	Cardiac conduction abnormality
4514	MT-CO3	HP:0030234	Highly elevated creatine kinase
4514	MT-CO3	HP:0012444	Brain atrophy
4514	MT-CO3	HP:0000467	Neck muscle weakness
4514	MT-CO3	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4514	MT-CO3	HP:0000519	Developmental cataract
4514	MT-CO3	HP:0000580	Pigmentary retinopathy
4514	MT-CO3	HP:0000576	Centrocecal scotoma
4514	MT-CO3	HP:0000590	Progressive external ophthalmoplegia
4514	MT-CO3	HP:0012544	Elevated circulating aldolase concentration
4514	MT-CO3	HP:0000572	Visual loss
4519	MT-CYB	HP:0001138	Optic neuropathy
4519	MT-CYB	HP:0001112	Leber optic atrophy
4519	MT-CYB	HP:0002438	Cerebellar malformation
4519	MT-CYB	HP:0008619	Bilateral sensorineural hearing impairment
4519	MT-CYB	HP:0003737	Mitochondrial myopathy
4519	MT-CYB	HP:0002401	Stroke-like episode
4519	MT-CYB	HP:0001298	Encephalopathy
4519	MT-CYB	HP:0001271	Polyneuropathy
4519	MT-CYB	HP:0001274	Agenesis of corpus callosum
4519	MT-CYB	HP:0001269	Hemiparesis
4519	MT-CYB	HP:0001254	Lethargy
4519	MT-CYB	HP:0001250	Seizure
4519	MT-CYB	HP:0001251	Ataxia
4519	MT-CYB	HP:0002572	Episodic vomiting
4519	MT-CYB	HP:0003828	Variable expressivity
4519	MT-CYB	HP:0003829	Typified by incomplete penetrance
4519	MT-CYB	HP:0001332	Dystonia
4519	MT-CYB	HP:0000175	Cleft palate
4519	MT-CYB	HP:0000147	Polycystic ovaries
4519	MT-CYB	HP:0002789	Tachypnea
4519	MT-CYB	HP:0001427	Mitochondrial inheritance
4519	MT-CYB	HP:0000107	Renal cyst
4519	MT-CYB	HP:0002013	Vomiting
4519	MT-CYB	HP:0005950	Laryngeal web
4519	MT-CYB	HP:0002069	Bilateral tonic-clonic seizure
4519	MT-CYB	HP:0002076	Migraine
4519	MT-CYB	HP:0011716	Junctional ectopic tachycardia
4519	MT-CYB	HP:0011712	Right bundle branch block
4519	MT-CYB	HP:0100598	Pulmonary edema
4519	MT-CYB	HP:0004756	Ventricular tachycardia
4519	MT-CYB	HP:0004755	Supraventricular tachycardia
4519	MT-CYB	HP:0004749	Atrial flutter
4519	MT-CYB	HP:0002174	Postural tremor
4519	MT-CYB	HP:0002240	Hepatomegaly
4519	MT-CYB	HP:0100704	Cerebral visual impairment
4519	MT-CYB	HP:0003546	Exercise intolerance
4519	MT-CYB	HP:0200125	Mitochondrial respiratory chain defects
4519	MT-CYB	HP:0002329	Drowsiness
4519	MT-CYB	HP:0009830	Peripheral neuropathy
4519	MT-CYB	HP:0002301	Hemiplegia
4519	MT-CYB	HP:0007185	Loss of consciousness
4519	MT-CYB	HP:0000648	Optic atrophy
4519	MT-CYB	HP:0001943	Hypoglycemia
4519	MT-CYB	HP:0001945	Fever
4519	MT-CYB	HP:0000622	Blurred vision
4519	MT-CYB	HP:0000602	Ophthalmoplegia
4519	MT-CYB	HP:0000603	Central scotoma
4519	MT-CYB	HP:0001907	Thromboembolism
4519	MT-CYB	HP:0004309	Ventricular preexcitation
4519	MT-CYB	HP:0012735	Cough
4519	MT-CYB	HP:0000726	Dementia
4519	MT-CYB	HP:0003198	Myopathy
4519	MT-CYB	HP:0003128	Lactic acidosis
4519	MT-CYB	HP:0012841	Retinal vascular tortuosity
4519	MT-CYB	HP:0000819	Diabetes mellitus
4519	MT-CYB	HP:0000822	Hypertension
4519	MT-CYB	HP:0003200	Ragged-red muscle fibers
4519	MT-CYB	HP:0000980	Pallor
4519	MT-CYB	HP:0000961	Cyanosis
4519	MT-CYB	HP:0011675	Arrhythmia
4519	MT-CYB	HP:0007707	Congenital aphakia
4519	MT-CYB	HP:0005110	Atrial fibrillation
4519	MT-CYB	HP:0007763	Retinal telangiectasia
4519	MT-CYB	HP:0007768	Central retinal vessel vascular tortuosity
4519	MT-CYB	HP:0000238	Hydrocephalus
4519	MT-CYB	HP:0001508	Failure to thrive
4519	MT-CYB	HP:0001507	Growth abnormality
4519	MT-CYB	HP:0012377	Hemianopia
4519	MT-CYB	HP:0005165	Shortened PR interval
4519	MT-CYB	HP:0005162	Abnormal left ventricular function
4519	MT-CYB	HP:0001678	Atrioventricular block
4519	MT-CYB	HP:0001649	Tachycardia
4519	MT-CYB	HP:0001629	Ventricular septal defect
4519	MT-CYB	HP:0001640	Cardiomegaly
4519	MT-CYB	HP:0001635	Congestive heart failure
4519	MT-CYB	HP:0007957	Corneal opacity
4519	MT-CYB	HP:0007924	Slow decrease in visual acuity
4519	MT-CYB	HP:0000408	Progressive sensorineural hearing impairment
4519	MT-CYB	HP:0001716	Wolff-Parkinson-White syndrome
4519	MT-CYB	HP:0001712	Left ventricular hypertrophy
4519	MT-CYB	HP:0000485	Megalocornea
4519	MT-CYB	HP:0000519	Developmental cataract
4519	MT-CYB	HP:0000576	Centrocecal scotoma
4519	MT-CYB	HP:0000572	Visual loss
4519	MT-CYB	HP:0000568	Microphthalmia
4522	MTHFD1	HP:0001256	Intellectual disability, mild
4522	MTHFD1	HP:0001250	Seizure
4522	MTHFD1	HP:0010972	Anemia of inadequate production
4522	MTHFD1	HP:0000007	Autosomal recessive inheritance
4522	MTHFD1	HP:0025435	Increased circulating lactate dehydrogenase concentration
4522	MTHFD1	HP:0025406	Asthenia
4522	MTHFD1	HP:0002719	Recurrent infections
4522	MTHFD1	HP:0002013	Vomiting
4522	MTHFD1	HP:0002160	Hyperhomocystinemia
4522	MTHFD1	HP:0003593	Infantile onset
4522	MTHFD1	HP:0004821	Hypersegmentation of neutrophil nuclei
4522	MTHFD1	HP:0001972	Macrocytic anemia
4522	MTHFD1	HP:0001939	Abnormality of metabolism/homeostasis
4522	MTHFD1	HP:0004313	Decreased circulating antibody level
4522	MTHFD1	HP:0004430	Severe combined immunodeficiency
4522	MTHFD1	HP:0003095	Septic arthritis
4522	MTHFD1	HP:0003223	Decreased methylcobalamin
4522	MTHFD1	HP:0010301	Spinal dysraphism
4522	MTHFD1	HP:0000964	Eczema
4522	MTHFD1	HP:0025517	Hypoplastic hippocampus
4522	MTHFD1	HP:0006532	Recurrent pneumonia
4522	MTHFD1	HP:0000365	Hearing impairment
4522	MTHFD1	HP:0002960	Autoimmunity
4522	MTHFD1	HP:0001894	Thrombocytosis
4522	MTHFD1	HP:0001889	Megaloblastic anemia
4522	MTHFD1	HP:0001888	Lymphopenia
4522	MTHFD1	HP:0001876	Pancytopenia
4524	MTHFR	HP:0002493	Upper motor neuron dysfunction
4524	MTHFR	HP:0001298	Encephalopathy
4524	MTHFR	HP:0001297	Stroke
4524	MTHFR	HP:0001274	Agenesis of corpus callosum
4524	MTHFR	HP:0001269	Hemiparesis
4524	MTHFR	HP:0001268	Mental deterioration
4524	MTHFR	HP:0001288	Gait disturbance
4524	MTHFR	HP:0001254	Lethargy
4524	MTHFR	HP:0001250	Seizure
4524	MTHFR	HP:0001251	Ataxia
4524	MTHFR	HP:0001249	Intellectual disability
4524	MTHFR	HP:0001263	Global developmental delay
4524	MTHFR	HP:0410263	Brain imaging abnormality
4524	MTHFR	HP:0410291	Negativism
4524	MTHFR	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4524	MTHFR	HP:0007359	Focal-onset seizure
4524	MTHFR	HP:0007340	Lower limb muscle weakness
4524	MTHFR	HP:0002518	Abnormal periventricular white matter morphology
4524	MTHFR	HP:0002500	Abnormal cerebral white matter morphology
4524	MTHFR	HP:0002683	Abnormal calvaria morphology
4524	MTHFR	HP:0001345	Psychotic mentation
4524	MTHFR	HP:0001360	Holoprosencephaly
4524	MTHFR	HP:0008872	Feeding difficulties in infancy
4524	MTHFR	HP:0001328	Specific learning disability
4524	MTHFR	HP:0001324	Muscle weakness
4524	MTHFR	HP:0000007	Autosomal recessive inheritance
4524	MTHFR	HP:0000006	Autosomal dominant inheritance
4524	MTHFR	HP:0002625	Deep venous thrombosis
4524	MTHFR	HP:0410030	Cleft lip
4524	MTHFR	HP:0008935	Generalized neonatal hypotonia
4524	MTHFR	HP:0002011	Morphological central nervous system abnormality
4524	MTHFR	HP:0100543	Cognitive impairment
4524	MTHFR	HP:0002069	Bilateral tonic-clonic seizure
4524	MTHFR	HP:0002061	Lower limb spasticity
4524	MTHFR	HP:0011756	Posterior pituitary agenesis
4524	MTHFR	HP:0002156	Homocystinuria
4524	MTHFR	HP:0002123	Generalized myoclonic seizure
4524	MTHFR	HP:0002121	Generalized non-motor (absence) seizure
4524	MTHFR	HP:0002119	Ventriculomegaly
4524	MTHFR	HP:0002104	Apnea
4524	MTHFR	HP:0002160	Hyperhomocystinemia
4524	MTHFR	HP:0010516	Thymus hyperplasia
4524	MTHFR	HP:0011821	Abnormal facial skeleton morphology
4524	MTHFR	HP:0003401	Paresthesia
4524	MTHFR	HP:0002204	Pulmonary embolism
4524	MTHFR	HP:0100753	Schizophrenia
4524	MTHFR	HP:0010627	Anterior pituitary hypoplasia
4524	MTHFR	HP:0007086	Social and occupational deterioration
4524	MTHFR	HP:0002353	EEG abnormality
4524	MTHFR	HP:0002315	Headache
4524	MTHFR	HP:0002313	Spastic paraparesis
4524	MTHFR	HP:0003658	Hypomethioninemia
4524	MTHFR	HP:0009830	Peripheral neuropathy
4524	MTHFR	HP:0009800	Maternal diabetes
4524	MTHFR	HP:0002311	Incoordination
4524	MTHFR	HP:0006827	Atrophy of the spinal cord
4524	MTHFR	HP:0000639	Nystagmus
4524	MTHFR	HP:0001977	Abnormal thrombosis
4524	MTHFR	HP:0000648	Optic atrophy
4524	MTHFR	HP:0001939	Abnormality of metabolism/homeostasis
4524	MTHFR	HP:0001907	Thromboembolism
4524	MTHFR	HP:0000738	Hallucinations
4524	MTHFR	HP:0000746	Delusions
4524	MTHFR	HP:0000725	Psychotic episodes
4524	MTHFR	HP:0000709	Psychosis
4524	MTHFR	HP:0000708	Atypical behavior
4524	MTHFR	HP:0011463	Childhood onset
4524	MTHFR	HP:0000776	Congenital diaphragmatic hernia
4524	MTHFR	HP:0004419	Recurrent thrombophlebitis
4524	MTHFR	HP:0000929	Abnormal skull morphology
4524	MTHFR	HP:0000835	Adrenal hypoplasia
4524	MTHFR	HP:0003286	Cystathioninemia
4524	MTHFR	HP:0010301	Spinal dysraphism
4524	MTHFR	HP:0000238	Hydrocephalus
4524	MTHFR	HP:0000252	Microcephaly
4524	MTHFR	HP:0001561	Polyhydramnios
4524	MTHFR	HP:0001539	Omphalocele
4524	MTHFR	HP:0001508	Failure to thrive
4524	MTHFR	HP:0001511	Intrauterine growth retardation
4524	MTHFR	HP:0012379	Abnormal circulating enzyme concentration or activity
4524	MTHFR	HP:0000369	Low-set ears
4524	MTHFR	HP:0005305	Cerebral venous thrombosis
4524	MTHFR	HP:0001727	Thromboembolic stroke
4524	MTHFR	HP:0005280	Depressed nasal bridge
4524	MTHFR	HP:0000478	Abnormality of the eye
4524	MTHFR	HP:0012444	Brain atrophy
4524	MTHFR	HP:0030244	Maternal fever in pregnancy
4524	MTHFR	HP:0012443	Abnormality of brain morphology
4524	MTHFR	HP:0005466	Hypoplasia of the frontal bone
4524	MTHFR	HP:0000520	Proptosis
4534	MTM1	HP:0001166	Arachnodactyly
4534	MTM1	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
4534	MTM1	HP:0001290	Generalized hypotonia
4534	MTM1	HP:0001270	Motor delay
4534	MTM1	HP:0001284	Areflexia
4534	MTM1	HP:0002540	Inability to walk
4534	MTM1	HP:0001371	Flexion contracture
4534	MTM1	HP:0000054	Micropenis
4534	MTM1	HP:0001382	Joint hypermobility
4534	MTM1	HP:0000048	Bifid scrotum
4534	MTM1	HP:0000028	Cryptorchidism
4534	MTM1	HP:0008872	Feeding difficulties in infancy
4534	MTM1	HP:0001305	Dandy-Walker malformation
4534	MTM1	HP:0001319	Neonatal hypotonia
4534	MTM1	HP:0002643	Neonatal respiratory distress
4534	MTM1	HP:0031238	Necklace skeletal muscle fibers
4534	MTM1	HP:0001419	X-linked recessive inheritance
4534	MTM1	HP:0002021	Pyloric stenosis
4534	MTM1	HP:0002033	Poor suck
4534	MTM1	HP:0040314	Blind vagina
4534	MTM1	HP:0003324	Generalized muscle weakness
4534	MTM1	HP:0030917	Low APGAR score
4534	MTM1	HP:0030919	Low 5-minute APGAR score
4534	MTM1	HP:0030918	Low 1-minute APGAR score
4534	MTM1	HP:0002098	Respiratory distress
4534	MTM1	HP:0002093	Respiratory insufficiency
4534	MTM1	HP:0002090	Pneumonia
4534	MTM1	HP:0004887	Respiratory failure requiring assisted ventilation
4534	MTM1	HP:0002205	Recurrent respiratory infections
4534	MTM1	HP:0011968	Feeding difficulties
4534	MTM1	HP:0010628	Facial palsy
4534	MTM1	HP:0003517	Birth length greater than 97th percentile
4534	MTM1	HP:0002375	Hypokinesia
4534	MTM1	HP:0003687	Centrally nucleated skeletal muscle fibers
4534	MTM1	HP:0033454	Tube feeding
4534	MTM1	HP:0006829	Severe muscular hypotonia
4534	MTM1	HP:0000689	Dental malocclusion
4534	MTM1	HP:0011308	Slender toe
4534	MTM1	HP:0001999	Abnormal facial shape
4534	MTM1	HP:0000808	Penoscrotal hypospadias
4534	MTM1	HP:0000807	Glandular hypospadias
4534	MTM1	HP:0011410	Caesarian section
4534	MTM1	HP:0009110	Diaphragmatic eventration
4534	MTM1	HP:0000883	Thin ribs
4534	MTM1	HP:0003244	Penile hypospadias
4534	MTM1	HP:0000278	Retrognathia
4534	MTM1	HP:0000256	Macrocephaly
4534	MTM1	HP:0000275	Narrow face
4534	MTM1	HP:0000276	Long face
4534	MTM1	HP:0000268	Dolichocephaly
4534	MTM1	HP:0000238	Hydrocephalus
4534	MTM1	HP:0000218	High palate
4534	MTM1	HP:0001561	Polyhydramnios
4534	MTM1	HP:0001558	Decreased fetal movement
4534	MTM1	HP:0030195	Fatigable weakness of swallowing muscles
4534	MTM1	HP:0030192	Fatigable weakness of bulbar muscles
4534	MTM1	HP:0002910	Elevated hepatic transaminase
4534	MTM1	HP:0000348	High forehead
4534	MTM1	HP:0001622	Premature birth
4534	MTM1	HP:0030319	Weakness of facial musculature
4534	MTM1	HP:0000478	Abnormality of the eye
4534	MTM1	HP:0000467	Neck muscle weakness
4534	MTM1	HP:0000544	External ophthalmoplegia
4535	MT-ND1	HP:0002483	Bulbar signs
4535	MT-ND1	HP:0025116	Fetal distress
4535	MT-ND1	HP:0002490	Increased CSF lactate
4535	MT-ND1	HP:0001138	Optic neuropathy
4535	MT-ND1	HP:0001112	Leber optic atrophy
4535	MT-ND1	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4535	MT-ND1	HP:0007302	Bipolar affective disorder
4535	MT-ND1	HP:0008619	Bilateral sensorineural hearing impairment
4535	MT-ND1	HP:0002421	Poor head control
4535	MT-ND1	HP:0002415	Leukodystrophy
4535	MT-ND1	HP:0003737	Mitochondrial myopathy
4535	MT-ND1	HP:0002401	Stroke-like episode
4535	MT-ND1	HP:0001298	Encephalopathy
4535	MT-ND1	HP:0025268	Stuttering
4535	MT-ND1	HP:0001276	Hypertonia
4535	MT-ND1	HP:0001271	Polyneuropathy
4535	MT-ND1	HP:0001274	Agenesis of corpus callosum
4535	MT-ND1	HP:0001270	Motor delay
4535	MT-ND1	HP:0001269	Hemiparesis
4535	MT-ND1	HP:0001288	Gait disturbance
4535	MT-ND1	HP:0001254	Lethargy
4535	MT-ND1	HP:0001250	Seizure
4535	MT-ND1	HP:0001252	Hypotonia
4535	MT-ND1	HP:0001251	Ataxia
4535	MT-ND1	HP:0002579	Gastrointestinal dysmotility
4535	MT-ND1	HP:0001265	Hyporeflexia
4535	MT-ND1	HP:0001263	Global developmental delay
4535	MT-ND1	HP:0001257	Spasticity
4535	MT-ND1	HP:0002572	Episodic vomiting
4535	MT-ND1	HP:0007359	Focal-onset seizure
4535	MT-ND1	HP:0003828	Variable expressivity
4535	MT-ND1	HP:0003829	Typified by incomplete penetrance
4535	MT-ND1	HP:0000097	Focal segmental glomerulosclerosis
4535	MT-ND1	HP:0000091	Abnormal renal tubule morphology
4535	MT-ND1	HP:0000093	Proteinuria
4535	MT-ND1	HP:0001399	Hepatic failure
4535	MT-ND1	HP:0000044	Hypogonadotropic hypogonadism
4535	MT-ND1	HP:0001345	Psychotic mentation
4535	MT-ND1	HP:0001347	Hyperreflexia
4535	MT-ND1	HP:0001332	Dystonia
4535	MT-ND1	HP:0001328	Specific learning disability
4535	MT-ND1	HP:0001324	Muscle weakness
4535	MT-ND1	HP:0001336	Myoclonus
4535	MT-ND1	HP:0008947	Infantile muscular hypotonia
4535	MT-ND1	HP:0000114	Proximal tubulopathy
4535	MT-ND1	HP:0001427	Mitochondrial inheritance
4535	MT-ND1	HP:0000112	Nephropathy
4535	MT-ND1	HP:0002019	Constipation
4535	MT-ND1	HP:0003348	Hyperalaninemia
4535	MT-ND1	HP:0002014	Diarrhea
4535	MT-ND1	HP:0002015	Dysphagia
4535	MT-ND1	HP:0002013	Vomiting
4535	MT-ND1	HP:0005978	Type II diabetes mellitus
4535	MT-ND1	HP:0002094	Dyspnea
4535	MT-ND1	HP:0002092	Pulmonary arterial hypertension
4535	MT-ND1	HP:0002093	Respiratory insufficiency
4535	MT-ND1	HP:0002069	Bilateral tonic-clonic seizure
4535	MT-ND1	HP:0002066	Gait ataxia
4535	MT-ND1	HP:0002079	Hypoplasia of the corpus callosum
4535	MT-ND1	HP:0002076	Migraine
4535	MT-ND1	HP:0002072	Chorea
4535	MT-ND1	HP:0002045	Hypothermia
4535	MT-ND1	HP:0003477	Peripheral axonal neuropathy
4535	MT-ND1	HP:0002151	Increased serum lactate
4535	MT-ND1	HP:0003481	Segmental peripheral demyelination/remyelination
4535	MT-ND1	HP:0002123	Generalized myoclonic seizure
4535	MT-ND1	HP:0002120	Cerebral cortical atrophy
4535	MT-ND1	HP:0002135	Basal ganglia calcification
4535	MT-ND1	HP:0002104	Apnea
4535	MT-ND1	HP:0011923	Decreased activity of mitochondrial complex I
4535	MT-ND1	HP:0002174	Postural tremor
4535	MT-ND1	HP:0003572	Low plasma citrulline
4535	MT-ND1	HP:0002240	Hepatomegaly
4535	MT-ND1	HP:0100704	Cerebral visual impairment
4535	MT-ND1	HP:0004885	Episodic respiratory distress
4535	MT-ND1	HP:0003546	Exercise intolerance
4535	MT-ND1	HP:0003542	Increased serum pyruvate
4535	MT-ND1	HP:0200125	Mitochondrial respiratory chain defects
4535	MT-ND1	HP:0011968	Feeding difficulties
4535	MT-ND1	HP:0008316	Abnormal mitochondria in muscle tissue
4535	MT-ND1	HP:0007067	Distal peripheral sensory neuropathy
4535	MT-ND1	HP:0002381	Aphasia
4535	MT-ND1	HP:0001045	Vitiligo
4535	MT-ND1	HP:0002376	Developmental regression
4535	MT-ND1	HP:0002353	EEG abnormality
4535	MT-ND1	HP:0002354	Memory impairment
4535	MT-ND1	HP:0002352	Leukoencephalopathy
4535	MT-ND1	HP:0003648	Lacticaciduria
4535	MT-ND1	HP:0002331	Recurrent paroxysmal headache
4535	MT-ND1	HP:0100651	Type I diabetes mellitus
4535	MT-ND1	HP:0100660	Dyskinesia
4535	MT-ND1	HP:0009830	Peripheral neuropathy
4535	MT-ND1	HP:0100611	Multiple glomerular cysts
4535	MT-ND1	HP:0010794	Impaired visuospatial constructive cognition
4535	MT-ND1	HP:0007159	Fluctuations in consciousness
4535	MT-ND1	HP:0010783	Erythema
4535	MT-ND1	HP:0007141	Sensorimotor neuropathy
4535	MT-ND1	HP:0007108	Demyelinating peripheral neuropathy
4535	MT-ND1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4535	MT-ND1	HP:0000639	Nystagmus
4535	MT-ND1	HP:0000648	Optic atrophy
4535	MT-ND1	HP:0000618	Blindness
4535	MT-ND1	HP:0001943	Hypoglycemia
4535	MT-ND1	HP:0001945	Fever
4535	MT-ND1	HP:0000622	Blurred vision
4535	MT-ND1	HP:0000602	Ophthalmoplegia
4535	MT-ND1	HP:0000603	Central scotoma
4535	MT-ND1	HP:0001903	Anemia
4535	MT-ND1	HP:0011344	Severe global developmental delay
4535	MT-ND1	HP:0004322	Short stature
4535	MT-ND1	HP:0004309	Ventricular preexcitation
4535	MT-ND1	HP:0004389	Intestinal pseudo-obstruction
4535	MT-ND1	HP:0004372	Reduced consciousness/confusion
4535	MT-ND1	HP:0012748	Focal T2 hyperintense brainstem lesion
4535	MT-ND1	HP:0000751	Personality changes
4535	MT-ND1	HP:0100027	Recurrent pancreatitis
4535	MT-ND1	HP:0000739	Anxiety
4535	MT-ND1	HP:0000736	Short attention span
4535	MT-ND1	HP:0012707	Elevated brain lactate level by MRS
4535	MT-ND1	HP:0000716	Depression
4535	MT-ND1	HP:0000726	Dementia
4535	MT-ND1	HP:0000709	Psychosis
4535	MT-ND1	HP:0012766	Widened cerebral subarachnoid space
4535	MT-ND1	HP:0011442	Abnormal central motor function
4535	MT-ND1	HP:0003198	Myopathy
4535	MT-ND1	HP:0003128	Lactic acidosis
4535	MT-ND1	HP:0012841	Retinal vascular tortuosity
4535	MT-ND1	HP:0000819	Diabetes mellitus
4535	MT-ND1	HP:0000817	Reduced eye contact
4535	MT-ND1	HP:0000816	Abnormality of Krebs cycle metabolism
4535	MT-ND1	HP:0000829	Hypoparathyroidism
4535	MT-ND1	HP:0000822	Hypertension
4535	MT-ND1	HP:0000821	Hypothyroidism
4535	MT-ND1	HP:0003200	Ragged-red muscle fibers
4535	MT-ND1	HP:0000998	Hypertrichosis
4535	MT-ND1	HP:0011675	Arrhythmia
4535	MT-ND1	HP:0007704	Paroxysmal involuntary eye movements
4535	MT-ND1	HP:0007763	Retinal telangiectasia
4535	MT-ND1	HP:0007768	Central retinal vessel vascular tortuosity
4535	MT-ND1	HP:0000252	Microcephaly
4535	MT-ND1	HP:0002883	Hyperventilation
4535	MT-ND1	HP:0001508	Failure to thrive
4535	MT-ND1	HP:0001507	Growth abnormality
4535	MT-ND1	HP:0001511	Intrauterine growth retardation
4535	MT-ND1	HP:0012377	Hemianopia
4535	MT-ND1	HP:0002922	Increased CSF protein concentration
4535	MT-ND1	HP:0005157	Concentric hypertrophic cardiomyopathy
4535	MT-ND1	HP:0005162	Abnormal left ventricular function
4535	MT-ND1	HP:0031434	Abnormal prosody
4535	MT-ND1	HP:0001644	Dilated cardiomyopathy
4535	MT-ND1	HP:0001639	Hypertrophic cardiomyopathy
4535	MT-ND1	HP:0001635	Congestive heart failure
4535	MT-ND1	HP:0001638	Cardiomyopathy
4535	MT-ND1	HP:0007924	Slow decrease in visual acuity
4535	MT-ND1	HP:0000408	Progressive sensorineural hearing impairment
4535	MT-ND1	HP:0000407	Sensorineural hearing impairment
4535	MT-ND1	HP:0001716	Wolff-Parkinson-White syndrome
4535	MT-ND1	HP:0001712	Left ventricular hypertrophy
4535	MT-ND1	HP:0000486	Strabismus
4535	MT-ND1	HP:0031546	Cardiac conduction abnormality
4535	MT-ND1	HP:0012469	Infantile spasms
4535	MT-ND1	HP:0012444	Brain atrophy
4535	MT-ND1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4535	MT-ND1	HP:0000519	Developmental cataract
4535	MT-ND1	HP:0000510	Rod-cone dystrophy
4535	MT-ND1	HP:0000508	Ptosis
4535	MT-ND1	HP:0000597	Ophthalmoparesis
4535	MT-ND1	HP:0000580	Pigmentary retinopathy
4535	MT-ND1	HP:0000576	Centrocecal scotoma
4535	MT-ND1	HP:0000590	Progressive external ophthalmoplegia
4535	MT-ND1	HP:0000572	Visual loss
4535	MT-ND1	HP:0000543	Optic disc pallor
4536	MT-ND2	HP:0002483	Bulbar signs
4536	MT-ND2	HP:0025116	Fetal distress
4536	MT-ND2	HP:0002490	Increased CSF lactate
4536	MT-ND2	HP:0001138	Optic neuropathy
4536	MT-ND2	HP:0001112	Leber optic atrophy
4536	MT-ND2	HP:0002421	Poor head control
4536	MT-ND2	HP:0002415	Leukodystrophy
4536	MT-ND2	HP:0003737	Mitochondrial myopathy
4536	MT-ND2	HP:0001298	Encephalopathy
4536	MT-ND2	HP:0001276	Hypertonia
4536	MT-ND2	HP:0001271	Polyneuropathy
4536	MT-ND2	HP:0001254	Lethargy
4536	MT-ND2	HP:0001250	Seizure
4536	MT-ND2	HP:0001252	Hypotonia
4536	MT-ND2	HP:0001251	Ataxia
4536	MT-ND2	HP:0001265	Hyporeflexia
4536	MT-ND2	HP:0001263	Global developmental delay
4536	MT-ND2	HP:0001257	Spasticity
4536	MT-ND2	HP:0002572	Episodic vomiting
4536	MT-ND2	HP:0003829	Typified by incomplete penetrance
4536	MT-ND2	HP:0000091	Abnormal renal tubule morphology
4536	MT-ND2	HP:0001399	Hepatic failure
4536	MT-ND2	HP:0001347	Hyperreflexia
4536	MT-ND2	HP:0001332	Dystonia
4536	MT-ND2	HP:0001324	Muscle weakness
4536	MT-ND2	HP:0008947	Infantile muscular hypotonia
4536	MT-ND2	HP:0000114	Proximal tubulopathy
4536	MT-ND2	HP:0001427	Mitochondrial inheritance
4536	MT-ND2	HP:0003348	Hyperalaninemia
4536	MT-ND2	HP:0002015	Dysphagia
4536	MT-ND2	HP:0002013	Vomiting
4536	MT-ND2	HP:0002094	Dyspnea
4536	MT-ND2	HP:0002093	Respiratory insufficiency
4536	MT-ND2	HP:0002069	Bilateral tonic-clonic seizure
4536	MT-ND2	HP:0002066	Gait ataxia
4536	MT-ND2	HP:0002072	Chorea
4536	MT-ND2	HP:0002045	Hypothermia
4536	MT-ND2	HP:0002151	Increased serum lactate
4536	MT-ND2	HP:0003481	Segmental peripheral demyelination/remyelination
4536	MT-ND2	HP:0002123	Generalized myoclonic seizure
4536	MT-ND2	HP:0002104	Apnea
4536	MT-ND2	HP:0011923	Decreased activity of mitochondrial complex I
4536	MT-ND2	HP:0002174	Postural tremor
4536	MT-ND2	HP:0003572	Low plasma citrulline
4536	MT-ND2	HP:0002240	Hepatomegaly
4536	MT-ND2	HP:0004885	Episodic respiratory distress
4536	MT-ND2	HP:0003542	Increased serum pyruvate
4536	MT-ND2	HP:0200125	Mitochondrial respiratory chain defects
4536	MT-ND2	HP:0011968	Feeding difficulties
4536	MT-ND2	HP:0008316	Abnormal mitochondria in muscle tissue
4536	MT-ND2	HP:0002376	Developmental regression
4536	MT-ND2	HP:0002352	Leukoencephalopathy
4536	MT-ND2	HP:0003648	Lacticaciduria
4536	MT-ND2	HP:0100660	Dyskinesia
4536	MT-ND2	HP:0009830	Peripheral neuropathy
4536	MT-ND2	HP:0100611	Multiple glomerular cysts
4536	MT-ND2	HP:0007141	Sensorimotor neuropathy
4536	MT-ND2	HP:0007108	Demyelinating peripheral neuropathy
4536	MT-ND2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4536	MT-ND2	HP:0000639	Nystagmus
4536	MT-ND2	HP:0000648	Optic atrophy
4536	MT-ND2	HP:0000618	Blindness
4536	MT-ND2	HP:0001943	Hypoglycemia
4536	MT-ND2	HP:0001945	Fever
4536	MT-ND2	HP:0000622	Blurred vision
4536	MT-ND2	HP:0000603	Central scotoma
4536	MT-ND2	HP:0011344	Severe global developmental delay
4536	MT-ND2	HP:0004309	Ventricular preexcitation
4536	MT-ND2	HP:0012748	Focal T2 hyperintense brainstem lesion
4536	MT-ND2	HP:0003198	Myopathy
4536	MT-ND2	HP:0003128	Lactic acidosis
4536	MT-ND2	HP:0012841	Retinal vascular tortuosity
4536	MT-ND2	HP:0000819	Diabetes mellitus
4536	MT-ND2	HP:0000817	Reduced eye contact
4536	MT-ND2	HP:0000816	Abnormality of Krebs cycle metabolism
4536	MT-ND2	HP:0003200	Ragged-red muscle fibers
4536	MT-ND2	HP:0011675	Arrhythmia
4536	MT-ND2	HP:0007704	Paroxysmal involuntary eye movements
4536	MT-ND2	HP:0007763	Retinal telangiectasia
4536	MT-ND2	HP:0007768	Central retinal vessel vascular tortuosity
4536	MT-ND2	HP:0000252	Microcephaly
4536	MT-ND2	HP:0002883	Hyperventilation
4536	MT-ND2	HP:0001508	Failure to thrive
4536	MT-ND2	HP:0001511	Intrauterine growth retardation
4536	MT-ND2	HP:0031434	Abnormal prosody
4536	MT-ND2	HP:0001644	Dilated cardiomyopathy
4536	MT-ND2	HP:0001639	Hypertrophic cardiomyopathy
4536	MT-ND2	HP:0007924	Slow decrease in visual acuity
4536	MT-ND2	HP:0000407	Sensorineural hearing impairment
4536	MT-ND2	HP:0000486	Strabismus
4536	MT-ND2	HP:0031546	Cardiac conduction abnormality
4536	MT-ND2	HP:0012469	Infantile spasms
4536	MT-ND2	HP:0000510	Rod-cone dystrophy
4536	MT-ND2	HP:0000508	Ptosis
4536	MT-ND2	HP:0000597	Ophthalmoparesis
4536	MT-ND2	HP:0000580	Pigmentary retinopathy
4536	MT-ND2	HP:0000576	Centrocecal scotoma
4536	MT-ND2	HP:0000572	Visual loss
4536	MT-ND2	HP:0000543	Optic disc pallor
4537	MT-ND3	HP:0002483	Bulbar signs
4537	MT-ND3	HP:0025116	Fetal distress
4537	MT-ND3	HP:0002490	Increased CSF lactate
4537	MT-ND3	HP:0001138	Optic neuropathy
4537	MT-ND3	HP:0002421	Poor head control
4537	MT-ND3	HP:0002415	Leukodystrophy
4537	MT-ND3	HP:0003737	Mitochondrial myopathy
4537	MT-ND3	HP:0001298	Encephalopathy
4537	MT-ND3	HP:0001276	Hypertonia
4537	MT-ND3	HP:0001254	Lethargy
4537	MT-ND3	HP:0001250	Seizure
4537	MT-ND3	HP:0001252	Hypotonia
4537	MT-ND3	HP:0001251	Ataxia
4537	MT-ND3	HP:0001265	Hyporeflexia
4537	MT-ND3	HP:0001263	Global developmental delay
4537	MT-ND3	HP:0001257	Spasticity
4537	MT-ND3	HP:0002572	Episodic vomiting
4537	MT-ND3	HP:0000091	Abnormal renal tubule morphology
4537	MT-ND3	HP:0001399	Hepatic failure
4537	MT-ND3	HP:0001347	Hyperreflexia
4537	MT-ND3	HP:0001332	Dystonia
4537	MT-ND3	HP:0001324	Muscle weakness
4537	MT-ND3	HP:0008947	Infantile muscular hypotonia
4537	MT-ND3	HP:0000114	Proximal tubulopathy
4537	MT-ND3	HP:0003348	Hyperalaninemia
4537	MT-ND3	HP:0002015	Dysphagia
4537	MT-ND3	HP:0002013	Vomiting
4537	MT-ND3	HP:0002094	Dyspnea
4537	MT-ND3	HP:0002093	Respiratory insufficiency
4537	MT-ND3	HP:0002069	Bilateral tonic-clonic seizure
4537	MT-ND3	HP:0002066	Gait ataxia
4537	MT-ND3	HP:0002072	Chorea
4537	MT-ND3	HP:0002045	Hypothermia
4537	MT-ND3	HP:0002151	Increased serum lactate
4537	MT-ND3	HP:0003481	Segmental peripheral demyelination/remyelination
4537	MT-ND3	HP:0002123	Generalized myoclonic seizure
4537	MT-ND3	HP:0002104	Apnea
4537	MT-ND3	HP:0011923	Decreased activity of mitochondrial complex I
4537	MT-ND3	HP:0003572	Low plasma citrulline
4537	MT-ND3	HP:0002240	Hepatomegaly
4537	MT-ND3	HP:0004885	Episodic respiratory distress
4537	MT-ND3	HP:0003542	Increased serum pyruvate
4537	MT-ND3	HP:0011968	Feeding difficulties
4537	MT-ND3	HP:0008316	Abnormal mitochondria in muscle tissue
4537	MT-ND3	HP:0002376	Developmental regression
4537	MT-ND3	HP:0002352	Leukoencephalopathy
4537	MT-ND3	HP:0003648	Lacticaciduria
4537	MT-ND3	HP:0100660	Dyskinesia
4537	MT-ND3	HP:0100611	Multiple glomerular cysts
4537	MT-ND3	HP:0007141	Sensorimotor neuropathy
4537	MT-ND3	HP:0007108	Demyelinating peripheral neuropathy
4537	MT-ND3	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4537	MT-ND3	HP:0000639	Nystagmus
4537	MT-ND3	HP:0000648	Optic atrophy
4537	MT-ND3	HP:0000618	Blindness
4537	MT-ND3	HP:0001943	Hypoglycemia
4537	MT-ND3	HP:0001945	Fever
4537	MT-ND3	HP:0011344	Severe global developmental delay
4537	MT-ND3	HP:0012748	Focal T2 hyperintense brainstem lesion
4537	MT-ND3	HP:0003128	Lactic acidosis
4537	MT-ND3	HP:0000819	Diabetes mellitus
4537	MT-ND3	HP:0000817	Reduced eye contact
4537	MT-ND3	HP:0000816	Abnormality of Krebs cycle metabolism
4537	MT-ND3	HP:0003200	Ragged-red muscle fibers
4537	MT-ND3	HP:0007704	Paroxysmal involuntary eye movements
4537	MT-ND3	HP:0000252	Microcephaly
4537	MT-ND3	HP:0002883	Hyperventilation
4537	MT-ND3	HP:0001508	Failure to thrive
4537	MT-ND3	HP:0001511	Intrauterine growth retardation
4537	MT-ND3	HP:0031434	Abnormal prosody
4537	MT-ND3	HP:0001644	Dilated cardiomyopathy
4537	MT-ND3	HP:0001639	Hypertrophic cardiomyopathy
4537	MT-ND3	HP:0000407	Sensorineural hearing impairment
4537	MT-ND3	HP:0000486	Strabismus
4537	MT-ND3	HP:0031546	Cardiac conduction abnormality
4537	MT-ND3	HP:0012469	Infantile spasms
4537	MT-ND3	HP:0000510	Rod-cone dystrophy
4537	MT-ND3	HP:0000508	Ptosis
4537	MT-ND3	HP:0000597	Ophthalmoparesis
4537	MT-ND3	HP:0000580	Pigmentary retinopathy
4537	MT-ND3	HP:0000543	Optic disc pallor
4538	MT-ND4	HP:0002483	Bulbar signs
4538	MT-ND4	HP:0002490	Increased CSF lactate
4538	MT-ND4	HP:0001138	Optic neuropathy
4538	MT-ND4	HP:0001112	Leber optic atrophy
4538	MT-ND4	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4538	MT-ND4	HP:0007302	Bipolar affective disorder
4538	MT-ND4	HP:0003737	Mitochondrial myopathy
4538	MT-ND4	HP:0002401	Stroke-like episode
4538	MT-ND4	HP:0001298	Encephalopathy
4538	MT-ND4	HP:0025268	Stuttering
4538	MT-ND4	HP:0001276	Hypertonia
4538	MT-ND4	HP:0001271	Polyneuropathy
4538	MT-ND4	HP:0001274	Agenesis of corpus callosum
4538	MT-ND4	HP:0001270	Motor delay
4538	MT-ND4	HP:0001269	Hemiparesis
4538	MT-ND4	HP:0001288	Gait disturbance
4538	MT-ND4	HP:0001250	Seizure
4538	MT-ND4	HP:0001251	Ataxia
4538	MT-ND4	HP:0002579	Gastrointestinal dysmotility
4538	MT-ND4	HP:0001265	Hyporeflexia
4538	MT-ND4	HP:0001263	Global developmental delay
4538	MT-ND4	HP:0001257	Spasticity
4538	MT-ND4	HP:0002572	Episodic vomiting
4538	MT-ND4	HP:0007359	Focal-onset seizure
4538	MT-ND4	HP:0003829	Typified by incomplete penetrance
4538	MT-ND4	HP:0000097	Focal segmental glomerulosclerosis
4538	MT-ND4	HP:0000091	Abnormal renal tubule morphology
4538	MT-ND4	HP:0000093	Proteinuria
4538	MT-ND4	HP:0001399	Hepatic failure
4538	MT-ND4	HP:0000044	Hypogonadotropic hypogonadism
4538	MT-ND4	HP:0001345	Psychotic mentation
4538	MT-ND4	HP:0001347	Hyperreflexia
4538	MT-ND4	HP:0001332	Dystonia
4538	MT-ND4	HP:0001328	Specific learning disability
4538	MT-ND4	HP:0001324	Muscle weakness
4538	MT-ND4	HP:0001336	Myoclonus
4538	MT-ND4	HP:0008947	Infantile muscular hypotonia
4538	MT-ND4	HP:0000114	Proximal tubulopathy
4538	MT-ND4	HP:0001427	Mitochondrial inheritance
4538	MT-ND4	HP:0000112	Nephropathy
4538	MT-ND4	HP:0002019	Constipation
4538	MT-ND4	HP:0003348	Hyperalaninemia
4538	MT-ND4	HP:0002014	Diarrhea
4538	MT-ND4	HP:0002015	Dysphagia
4538	MT-ND4	HP:0002013	Vomiting
4538	MT-ND4	HP:0005978	Type II diabetes mellitus
4538	MT-ND4	HP:0002094	Dyspnea
4538	MT-ND4	HP:0002092	Pulmonary arterial hypertension
4538	MT-ND4	HP:0002069	Bilateral tonic-clonic seizure
4538	MT-ND4	HP:0002066	Gait ataxia
4538	MT-ND4	HP:0002079	Hypoplasia of the corpus callosum
4538	MT-ND4	HP:0002076	Migraine
4538	MT-ND4	HP:0002072	Chorea
4538	MT-ND4	HP:0002045	Hypothermia
4538	MT-ND4	HP:0003477	Peripheral axonal neuropathy
4538	MT-ND4	HP:0002151	Increased serum lactate
4538	MT-ND4	HP:0003481	Segmental peripheral demyelination/remyelination
4538	MT-ND4	HP:0002123	Generalized myoclonic seizure
4538	MT-ND4	HP:0002120	Cerebral cortical atrophy
4538	MT-ND4	HP:0002135	Basal ganglia calcification
4538	MT-ND4	HP:0002104	Apnea
4538	MT-ND4	HP:0002174	Postural tremor
4538	MT-ND4	HP:0003572	Low plasma citrulline
4538	MT-ND4	HP:0002240	Hepatomegaly
4538	MT-ND4	HP:0004885	Episodic respiratory distress
4538	MT-ND4	HP:0003546	Exercise intolerance
4538	MT-ND4	HP:0200125	Mitochondrial respiratory chain defects
4538	MT-ND4	HP:0008316	Abnormal mitochondria in muscle tissue
4538	MT-ND4	HP:0007067	Distal peripheral sensory neuropathy
4538	MT-ND4	HP:0002381	Aphasia
4538	MT-ND4	HP:0001045	Vitiligo
4538	MT-ND4	HP:0002376	Developmental regression
4538	MT-ND4	HP:0002353	EEG abnormality
4538	MT-ND4	HP:0002354	Memory impairment
4538	MT-ND4	HP:0003648	Lacticaciduria
4538	MT-ND4	HP:0002331	Recurrent paroxysmal headache
4538	MT-ND4	HP:0100651	Type I diabetes mellitus
4538	MT-ND4	HP:0100660	Dyskinesia
4538	MT-ND4	HP:0009830	Peripheral neuropathy
4538	MT-ND4	HP:0100611	Multiple glomerular cysts
4538	MT-ND4	HP:0010794	Impaired visuospatial constructive cognition
4538	MT-ND4	HP:0007159	Fluctuations in consciousness
4538	MT-ND4	HP:0010783	Erythema
4538	MT-ND4	HP:0007141	Sensorimotor neuropathy
4538	MT-ND4	HP:0007108	Demyelinating peripheral neuropathy
4538	MT-ND4	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4538	MT-ND4	HP:0000639	Nystagmus
4538	MT-ND4	HP:0000648	Optic atrophy
4538	MT-ND4	HP:0001945	Fever
4538	MT-ND4	HP:0000622	Blurred vision
4538	MT-ND4	HP:0000603	Central scotoma
4538	MT-ND4	HP:0001903	Anemia
4538	MT-ND4	HP:0011344	Severe global developmental delay
4538	MT-ND4	HP:0004322	Short stature
4538	MT-ND4	HP:0004309	Ventricular preexcitation
4538	MT-ND4	HP:0004389	Intestinal pseudo-obstruction
4538	MT-ND4	HP:0004372	Reduced consciousness/confusion
4538	MT-ND4	HP:0000751	Personality changes
4538	MT-ND4	HP:0100027	Recurrent pancreatitis
4538	MT-ND4	HP:0000739	Anxiety
4538	MT-ND4	HP:0000736	Short attention span
4538	MT-ND4	HP:0012707	Elevated brain lactate level by MRS
4538	MT-ND4	HP:0000716	Depression
4538	MT-ND4	HP:0000726	Dementia
4538	MT-ND4	HP:0000709	Psychosis
4538	MT-ND4	HP:0012766	Widened cerebral subarachnoid space
4538	MT-ND4	HP:0011442	Abnormal central motor function
4538	MT-ND4	HP:0003198	Myopathy
4538	MT-ND4	HP:0003128	Lactic acidosis
4538	MT-ND4	HP:0012841	Retinal vascular tortuosity
4538	MT-ND4	HP:0000819	Diabetes mellitus
4538	MT-ND4	HP:0000816	Abnormality of Krebs cycle metabolism
4538	MT-ND4	HP:0000829	Hypoparathyroidism
4538	MT-ND4	HP:0000821	Hypothyroidism
4538	MT-ND4	HP:0003200	Ragged-red muscle fibers
4538	MT-ND4	HP:0000998	Hypertrichosis
4538	MT-ND4	HP:0011675	Arrhythmia
4538	MT-ND4	HP:0007763	Retinal telangiectasia
4538	MT-ND4	HP:0007768	Central retinal vessel vascular tortuosity
4538	MT-ND4	HP:0002883	Hyperventilation
4538	MT-ND4	HP:0001508	Failure to thrive
4538	MT-ND4	HP:0002922	Increased CSF protein concentration
4538	MT-ND4	HP:0005157	Concentric hypertrophic cardiomyopathy
4538	MT-ND4	HP:0031434	Abnormal prosody
4538	MT-ND4	HP:0001644	Dilated cardiomyopathy
4538	MT-ND4	HP:0001639	Hypertrophic cardiomyopathy
4538	MT-ND4	HP:0001638	Cardiomyopathy
4538	MT-ND4	HP:0007924	Slow decrease in visual acuity
4538	MT-ND4	HP:0000407	Sensorineural hearing impairment
4538	MT-ND4	HP:0001716	Wolff-Parkinson-White syndrome
4538	MT-ND4	HP:0031546	Cardiac conduction abnormality
4538	MT-ND4	HP:0012469	Infantile spasms
4538	MT-ND4	HP:0012444	Brain atrophy
4538	MT-ND4	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4538	MT-ND4	HP:0000510	Rod-cone dystrophy
4538	MT-ND4	HP:0000597	Ophthalmoparesis
4538	MT-ND4	HP:0000580	Pigmentary retinopathy
4538	MT-ND4	HP:0000576	Centrocecal scotoma
4538	MT-ND4	HP:0000590	Progressive external ophthalmoplegia
4538	MT-ND4	HP:0000572	Visual loss
4539	MT-ND4L	HP:0001138	Optic neuropathy
4539	MT-ND4L	HP:0001112	Leber optic atrophy
4539	MT-ND4L	HP:0001271	Polyneuropathy
4539	MT-ND4L	HP:0001251	Ataxia
4539	MT-ND4L	HP:0003829	Typified by incomplete penetrance
4539	MT-ND4L	HP:0001332	Dystonia
4539	MT-ND4L	HP:0001427	Mitochondrial inheritance
4539	MT-ND4L	HP:0002174	Postural tremor
4539	MT-ND4L	HP:0200125	Mitochondrial respiratory chain defects
4539	MT-ND4L	HP:0009830	Peripheral neuropathy
4539	MT-ND4L	HP:0000648	Optic atrophy
4539	MT-ND4L	HP:0000622	Blurred vision
4539	MT-ND4L	HP:0000603	Central scotoma
4539	MT-ND4L	HP:0004309	Ventricular preexcitation
4539	MT-ND4L	HP:0003198	Myopathy
4539	MT-ND4L	HP:0012841	Retinal vascular tortuosity
4539	MT-ND4L	HP:0011675	Arrhythmia
4539	MT-ND4L	HP:0007763	Retinal telangiectasia
4539	MT-ND4L	HP:0007768	Central retinal vessel vascular tortuosity
4539	MT-ND4L	HP:0007924	Slow decrease in visual acuity
4539	MT-ND4L	HP:0000576	Centrocecal scotoma
4539	MT-ND4L	HP:0000572	Visual loss
4540	MT-ND5	HP:0002483	Bulbar signs
4540	MT-ND5	HP:0002490	Increased CSF lactate
4540	MT-ND5	HP:0001138	Optic neuropathy
4540	MT-ND5	HP:0001112	Leber optic atrophy
4540	MT-ND5	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4540	MT-ND5	HP:0007302	Bipolar affective disorder
4540	MT-ND5	HP:0008619	Bilateral sensorineural hearing impairment
4540	MT-ND5	HP:0003737	Mitochondrial myopathy
4540	MT-ND5	HP:0002401	Stroke-like episode
4540	MT-ND5	HP:0001298	Encephalopathy
4540	MT-ND5	HP:0025268	Stuttering
4540	MT-ND5	HP:0001276	Hypertonia
4540	MT-ND5	HP:0001271	Polyneuropathy
4540	MT-ND5	HP:0001274	Agenesis of corpus callosum
4540	MT-ND5	HP:0001270	Motor delay
4540	MT-ND5	HP:0001269	Hemiparesis
4540	MT-ND5	HP:0001288	Gait disturbance
4540	MT-ND5	HP:0001250	Seizure
4540	MT-ND5	HP:0001251	Ataxia
4540	MT-ND5	HP:0002579	Gastrointestinal dysmotility
4540	MT-ND5	HP:0001265	Hyporeflexia
4540	MT-ND5	HP:0001263	Global developmental delay
4540	MT-ND5	HP:0001257	Spasticity
4540	MT-ND5	HP:0002572	Episodic vomiting
4540	MT-ND5	HP:0007359	Focal-onset seizure
4540	MT-ND5	HP:0003828	Variable expressivity
4540	MT-ND5	HP:0003829	Typified by incomplete penetrance
4540	MT-ND5	HP:0000097	Focal segmental glomerulosclerosis
4540	MT-ND5	HP:0000091	Abnormal renal tubule morphology
4540	MT-ND5	HP:0000093	Proteinuria
4540	MT-ND5	HP:0001399	Hepatic failure
4540	MT-ND5	HP:0000044	Hypogonadotropic hypogonadism
4540	MT-ND5	HP:0001345	Psychotic mentation
4540	MT-ND5	HP:0001347	Hyperreflexia
4540	MT-ND5	HP:0001332	Dystonia
4540	MT-ND5	HP:0001328	Specific learning disability
4540	MT-ND5	HP:0001324	Muscle weakness
4540	MT-ND5	HP:0001336	Myoclonus
4540	MT-ND5	HP:0008947	Infantile muscular hypotonia
4540	MT-ND5	HP:0000114	Proximal tubulopathy
4540	MT-ND5	HP:0001427	Mitochondrial inheritance
4540	MT-ND5	HP:0000112	Nephropathy
4540	MT-ND5	HP:0002019	Constipation
4540	MT-ND5	HP:0003348	Hyperalaninemia
4540	MT-ND5	HP:0002014	Diarrhea
4540	MT-ND5	HP:0002015	Dysphagia
4540	MT-ND5	HP:0002013	Vomiting
4540	MT-ND5	HP:0005978	Type II diabetes mellitus
4540	MT-ND5	HP:0100543	Cognitive impairment
4540	MT-ND5	HP:0002094	Dyspnea
4540	MT-ND5	HP:0002092	Pulmonary arterial hypertension
4540	MT-ND5	HP:0002069	Bilateral tonic-clonic seizure
4540	MT-ND5	HP:0002066	Gait ataxia
4540	MT-ND5	HP:0002079	Hypoplasia of the corpus callosum
4540	MT-ND5	HP:0002076	Migraine
4540	MT-ND5	HP:0002072	Chorea
4540	MT-ND5	HP:0002045	Hypothermia
4540	MT-ND5	HP:0003477	Peripheral axonal neuropathy
4540	MT-ND5	HP:0002151	Increased serum lactate
4540	MT-ND5	HP:0003481	Segmental peripheral demyelination/remyelination
4540	MT-ND5	HP:0002123	Generalized myoclonic seizure
4540	MT-ND5	HP:0002120	Cerebral cortical atrophy
4540	MT-ND5	HP:0002135	Basal ganglia calcification
4540	MT-ND5	HP:0003457	EMG abnormality
4540	MT-ND5	HP:0002104	Apnea
4540	MT-ND5	HP:0002174	Postural tremor
4540	MT-ND5	HP:0003572	Low plasma citrulline
4540	MT-ND5	HP:0002240	Hepatomegaly
4540	MT-ND5	HP:0100704	Cerebral visual impairment
4540	MT-ND5	HP:0004885	Episodic respiratory distress
4540	MT-ND5	HP:0003546	Exercise intolerance
4540	MT-ND5	HP:0200125	Mitochondrial respiratory chain defects
4540	MT-ND5	HP:0008316	Abnormal mitochondria in muscle tissue
4540	MT-ND5	HP:0007067	Distal peripheral sensory neuropathy
4540	MT-ND5	HP:0002381	Aphasia
4540	MT-ND5	HP:0001045	Vitiligo
4540	MT-ND5	HP:0002376	Developmental regression
4540	MT-ND5	HP:0001012	Multiple lipomas
4540	MT-ND5	HP:0002353	EEG abnormality
4540	MT-ND5	HP:0002354	Memory impairment
4540	MT-ND5	HP:0003648	Lacticaciduria
4540	MT-ND5	HP:0002331	Recurrent paroxysmal headache
4540	MT-ND5	HP:0100651	Type I diabetes mellitus
4540	MT-ND5	HP:0100660	Dyskinesia
4540	MT-ND5	HP:0009830	Peripheral neuropathy
4540	MT-ND5	HP:0100611	Multiple glomerular cysts
4540	MT-ND5	HP:0010794	Impaired visuospatial constructive cognition
4540	MT-ND5	HP:0007159	Fluctuations in consciousness
4540	MT-ND5	HP:0010783	Erythema
4540	MT-ND5	HP:0007141	Sensorimotor neuropathy
4540	MT-ND5	HP:0007108	Demyelinating peripheral neuropathy
4540	MT-ND5	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4540	MT-ND5	HP:0000639	Nystagmus
4540	MT-ND5	HP:0000648	Optic atrophy
4540	MT-ND5	HP:0001945	Fever
4540	MT-ND5	HP:0000622	Blurred vision
4540	MT-ND5	HP:0000602	Ophthalmoplegia
4540	MT-ND5	HP:0000603	Central scotoma
4540	MT-ND5	HP:0001903	Anemia
4540	MT-ND5	HP:0011344	Severe global developmental delay
4540	MT-ND5	HP:0004322	Short stature
4540	MT-ND5	HP:0004309	Ventricular preexcitation
4540	MT-ND5	HP:0004389	Intestinal pseudo-obstruction
4540	MT-ND5	HP:0004372	Reduced consciousness/confusion
4540	MT-ND5	HP:0000751	Personality changes
4540	MT-ND5	HP:0100022	Abnormality of movement
4540	MT-ND5	HP:0100027	Recurrent pancreatitis
4540	MT-ND5	HP:0000739	Anxiety
4540	MT-ND5	HP:0000736	Short attention span
4540	MT-ND5	HP:0012707	Elevated brain lactate level by MRS
4540	MT-ND5	HP:0000716	Depression
4540	MT-ND5	HP:0000726	Dementia
4540	MT-ND5	HP:0000709	Psychosis
4540	MT-ND5	HP:0012766	Widened cerebral subarachnoid space
4540	MT-ND5	HP:0011442	Abnormal central motor function
4540	MT-ND5	HP:0003198	Myopathy
4540	MT-ND5	HP:0003128	Lactic acidosis
4540	MT-ND5	HP:0012841	Retinal vascular tortuosity
4540	MT-ND5	HP:0000819	Diabetes mellitus
4540	MT-ND5	HP:0000816	Abnormality of Krebs cycle metabolism
4540	MT-ND5	HP:0000829	Hypoparathyroidism
4540	MT-ND5	HP:0000822	Hypertension
4540	MT-ND5	HP:0000821	Hypothyroidism
4540	MT-ND5	HP:0003200	Ragged-red muscle fibers
4540	MT-ND5	HP:0000998	Hypertrichosis
4540	MT-ND5	HP:0011675	Arrhythmia
4540	MT-ND5	HP:0007763	Retinal telangiectasia
4540	MT-ND5	HP:0007768	Central retinal vessel vascular tortuosity
4540	MT-ND5	HP:0002883	Hyperventilation
4540	MT-ND5	HP:0001508	Failure to thrive
4540	MT-ND5	HP:0001507	Growth abnormality
4540	MT-ND5	HP:0012377	Hemianopia
4540	MT-ND5	HP:0002922	Increased CSF protein concentration
4540	MT-ND5	HP:0005157	Concentric hypertrophic cardiomyopathy
4540	MT-ND5	HP:0005162	Abnormal left ventricular function
4540	MT-ND5	HP:0031434	Abnormal prosody
4540	MT-ND5	HP:0001644	Dilated cardiomyopathy
4540	MT-ND5	HP:0001639	Hypertrophic cardiomyopathy
4540	MT-ND5	HP:0001635	Congestive heart failure
4540	MT-ND5	HP:0001638	Cardiomyopathy
4540	MT-ND5	HP:0007924	Slow decrease in visual acuity
4540	MT-ND5	HP:0000408	Progressive sensorineural hearing impairment
4540	MT-ND5	HP:0000407	Sensorineural hearing impairment
4540	MT-ND5	HP:0001716	Wolff-Parkinson-White syndrome
4540	MT-ND5	HP:0001712	Left ventricular hypertrophy
4540	MT-ND5	HP:0031546	Cardiac conduction abnormality
4540	MT-ND5	HP:0012469	Infantile spasms
4540	MT-ND5	HP:0012444	Brain atrophy
4540	MT-ND5	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4540	MT-ND5	HP:0000519	Developmental cataract
4540	MT-ND5	HP:0000510	Rod-cone dystrophy
4540	MT-ND5	HP:0000597	Ophthalmoparesis
4540	MT-ND5	HP:0000580	Pigmentary retinopathy
4540	MT-ND5	HP:0000576	Centrocecal scotoma
4540	MT-ND5	HP:0000590	Progressive external ophthalmoplegia
4540	MT-ND5	HP:0000572	Visual loss
4541	MT-ND6	HP:0002483	Bulbar signs
4541	MT-ND6	HP:0002490	Increased CSF lactate
4541	MT-ND6	HP:0001138	Optic neuropathy
4541	MT-ND6	HP:0001112	Leber optic atrophy
4541	MT-ND6	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4541	MT-ND6	HP:0007302	Bipolar affective disorder
4541	MT-ND6	HP:0008619	Bilateral sensorineural hearing impairment
4541	MT-ND6	HP:0003737	Mitochondrial myopathy
4541	MT-ND6	HP:0002401	Stroke-like episode
4541	MT-ND6	HP:0001298	Encephalopathy
4541	MT-ND6	HP:0025268	Stuttering
4541	MT-ND6	HP:0001276	Hypertonia
4541	MT-ND6	HP:0001271	Polyneuropathy
4541	MT-ND6	HP:0001274	Agenesis of corpus callosum
4541	MT-ND6	HP:0001270	Motor delay
4541	MT-ND6	HP:0001269	Hemiparesis
4541	MT-ND6	HP:0001288	Gait disturbance
4541	MT-ND6	HP:0001250	Seizure
4541	MT-ND6	HP:0001251	Ataxia
4541	MT-ND6	HP:0002579	Gastrointestinal dysmotility
4541	MT-ND6	HP:0001265	Hyporeflexia
4541	MT-ND6	HP:0001263	Global developmental delay
4541	MT-ND6	HP:0001257	Spasticity
4541	MT-ND6	HP:0002572	Episodic vomiting
4541	MT-ND6	HP:0007359	Focal-onset seizure
4541	MT-ND6	HP:0003828	Variable expressivity
4541	MT-ND6	HP:0003829	Typified by incomplete penetrance
4541	MT-ND6	HP:0000097	Focal segmental glomerulosclerosis
4541	MT-ND6	HP:0000091	Abnormal renal tubule morphology
4541	MT-ND6	HP:0000093	Proteinuria
4541	MT-ND6	HP:0001399	Hepatic failure
4541	MT-ND6	HP:0000044	Hypogonadotropic hypogonadism
4541	MT-ND6	HP:0001345	Psychotic mentation
4541	MT-ND6	HP:0001347	Hyperreflexia
4541	MT-ND6	HP:0001332	Dystonia
4541	MT-ND6	HP:0001328	Specific learning disability
4541	MT-ND6	HP:0001324	Muscle weakness
4541	MT-ND6	HP:0001336	Myoclonus
4541	MT-ND6	HP:0008947	Infantile muscular hypotonia
4541	MT-ND6	HP:0000114	Proximal tubulopathy
4541	MT-ND6	HP:0001427	Mitochondrial inheritance
4541	MT-ND6	HP:0000112	Nephropathy
4541	MT-ND6	HP:0002019	Constipation
4541	MT-ND6	HP:0003348	Hyperalaninemia
4541	MT-ND6	HP:0002014	Diarrhea
4541	MT-ND6	HP:0002015	Dysphagia
4541	MT-ND6	HP:0002013	Vomiting
4541	MT-ND6	HP:0005978	Type II diabetes mellitus
4541	MT-ND6	HP:0002094	Dyspnea
4541	MT-ND6	HP:0002092	Pulmonary arterial hypertension
4541	MT-ND6	HP:0002069	Bilateral tonic-clonic seizure
4541	MT-ND6	HP:0002066	Gait ataxia
4541	MT-ND6	HP:0002079	Hypoplasia of the corpus callosum
4541	MT-ND6	HP:0002076	Migraine
4541	MT-ND6	HP:0002072	Chorea
4541	MT-ND6	HP:0002045	Hypothermia
4541	MT-ND6	HP:0003477	Peripheral axonal neuropathy
4541	MT-ND6	HP:0002151	Increased serum lactate
4541	MT-ND6	HP:0003481	Segmental peripheral demyelination/remyelination
4541	MT-ND6	HP:0002123	Generalized myoclonic seizure
4541	MT-ND6	HP:0002120	Cerebral cortical atrophy
4541	MT-ND6	HP:0002135	Basal ganglia calcification
4541	MT-ND6	HP:0002104	Apnea
4541	MT-ND6	HP:0002174	Postural tremor
4541	MT-ND6	HP:0003572	Low plasma citrulline
4541	MT-ND6	HP:0002240	Hepatomegaly
4541	MT-ND6	HP:0100704	Cerebral visual impairment
4541	MT-ND6	HP:0004885	Episodic respiratory distress
4541	MT-ND6	HP:0003546	Exercise intolerance
4541	MT-ND6	HP:0200125	Mitochondrial respiratory chain defects
4541	MT-ND6	HP:0008316	Abnormal mitochondria in muscle tissue
4541	MT-ND6	HP:0007067	Distal peripheral sensory neuropathy
4541	MT-ND6	HP:0002381	Aphasia
4541	MT-ND6	HP:0001045	Vitiligo
4541	MT-ND6	HP:0002376	Developmental regression
4541	MT-ND6	HP:0002353	EEG abnormality
4541	MT-ND6	HP:0002354	Memory impairment
4541	MT-ND6	HP:0003648	Lacticaciduria
4541	MT-ND6	HP:0002331	Recurrent paroxysmal headache
4541	MT-ND6	HP:0100651	Type I diabetes mellitus
4541	MT-ND6	HP:0100660	Dyskinesia
4541	MT-ND6	HP:0009830	Peripheral neuropathy
4541	MT-ND6	HP:0100611	Multiple glomerular cysts
4541	MT-ND6	HP:0010794	Impaired visuospatial constructive cognition
4541	MT-ND6	HP:0007159	Fluctuations in consciousness
4541	MT-ND6	HP:0010783	Erythema
4541	MT-ND6	HP:0007141	Sensorimotor neuropathy
4541	MT-ND6	HP:0007108	Demyelinating peripheral neuropathy
4541	MT-ND6	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4541	MT-ND6	HP:0000639	Nystagmus
4541	MT-ND6	HP:0000648	Optic atrophy
4541	MT-ND6	HP:0001945	Fever
4541	MT-ND6	HP:0000622	Blurred vision
4541	MT-ND6	HP:0000602	Ophthalmoplegia
4541	MT-ND6	HP:0000603	Central scotoma
4541	MT-ND6	HP:0001903	Anemia
4541	MT-ND6	HP:0011344	Severe global developmental delay
4541	MT-ND6	HP:0004322	Short stature
4541	MT-ND6	HP:0004309	Ventricular preexcitation
4541	MT-ND6	HP:0004389	Intestinal pseudo-obstruction
4541	MT-ND6	HP:0004372	Reduced consciousness/confusion
4541	MT-ND6	HP:0000751	Personality changes
4541	MT-ND6	HP:0100027	Recurrent pancreatitis
4541	MT-ND6	HP:0000739	Anxiety
4541	MT-ND6	HP:0000736	Short attention span
4541	MT-ND6	HP:0012707	Elevated brain lactate level by MRS
4541	MT-ND6	HP:0000716	Depression
4541	MT-ND6	HP:0000726	Dementia
4541	MT-ND6	HP:0000709	Psychosis
4541	MT-ND6	HP:0012766	Widened cerebral subarachnoid space
4541	MT-ND6	HP:0011442	Abnormal central motor function
4541	MT-ND6	HP:0003198	Myopathy
4541	MT-ND6	HP:0003128	Lactic acidosis
4541	MT-ND6	HP:0012841	Retinal vascular tortuosity
4541	MT-ND6	HP:0000819	Diabetes mellitus
4541	MT-ND6	HP:0000816	Abnormality of Krebs cycle metabolism
4541	MT-ND6	HP:0000829	Hypoparathyroidism
4541	MT-ND6	HP:0000822	Hypertension
4541	MT-ND6	HP:0000821	Hypothyroidism
4541	MT-ND6	HP:0003200	Ragged-red muscle fibers
4541	MT-ND6	HP:0000998	Hypertrichosis
4541	MT-ND6	HP:0011675	Arrhythmia
4541	MT-ND6	HP:0007763	Retinal telangiectasia
4541	MT-ND6	HP:0007768	Central retinal vessel vascular tortuosity
4541	MT-ND6	HP:0002883	Hyperventilation
4541	MT-ND6	HP:0001508	Failure to thrive
4541	MT-ND6	HP:0001507	Growth abnormality
4541	MT-ND6	HP:0012377	Hemianopia
4541	MT-ND6	HP:0002922	Increased CSF protein concentration
4541	MT-ND6	HP:0005157	Concentric hypertrophic cardiomyopathy
4541	MT-ND6	HP:0005162	Abnormal left ventricular function
4541	MT-ND6	HP:0031434	Abnormal prosody
4541	MT-ND6	HP:0001644	Dilated cardiomyopathy
4541	MT-ND6	HP:0001639	Hypertrophic cardiomyopathy
4541	MT-ND6	HP:0001635	Congestive heart failure
4541	MT-ND6	HP:0001638	Cardiomyopathy
4541	MT-ND6	HP:0007924	Slow decrease in visual acuity
4541	MT-ND6	HP:0000408	Progressive sensorineural hearing impairment
4541	MT-ND6	HP:0000407	Sensorineural hearing impairment
4541	MT-ND6	HP:0001716	Wolff-Parkinson-White syndrome
4541	MT-ND6	HP:0001712	Left ventricular hypertrophy
4541	MT-ND6	HP:0031546	Cardiac conduction abnormality
4541	MT-ND6	HP:0012469	Infantile spasms
4541	MT-ND6	HP:0012444	Brain atrophy
4541	MT-ND6	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4541	MT-ND6	HP:0000519	Developmental cataract
4541	MT-ND6	HP:0000510	Rod-cone dystrophy
4541	MT-ND6	HP:0000597	Ophthalmoparesis
4541	MT-ND6	HP:0000580	Pigmentary retinopathy
4541	MT-ND6	HP:0000576	Centrocecal scotoma
4541	MT-ND6	HP:0000590	Progressive external ophthalmoplegia
4541	MT-ND6	HP:0000572	Visual loss
4544	MTNR1B	HP:0000006	Autosomal dominant inheritance
4544	MTNR1B	HP:0005978	Type II diabetes mellitus
4544	MTNR1B	HP:0003584	Late onset
4544	MTNR1B	HP:0031819	Increased waist to hip ratio
4544	MTNR1B	HP:0000855	Insulin resistance
4547	MTTP	HP:0002495	Impaired vibratory sensation
4547	MTTP	HP:0002493	Upper motor neuron dysfunction
4547	MTTP	HP:0007305	CNS demyelination
4547	MTTP	HP:0002403	Positive Romberg sign
4547	MTTP	HP:0001284	Areflexia
4547	MTTP	HP:0001251	Ataxia
4547	MTTP	HP:0001260	Dysarthria
4547	MTTP	HP:0025201	Abnormal circulating apolipoprotein concentration
4547	MTTP	HP:0002570	Steatorrhea
4547	MTTP	HP:0001397	Hepatic steatosis
4547	MTTP	HP:0001395	Hepatic fibrosis
4547	MTTP	HP:0001394	Cirrhosis
4547	MTTP	HP:0000007	Autosomal recessive inheritance
4547	MTTP	HP:0001310	Dysmetria
4547	MTTP	HP:0002630	Fat malabsorption
4547	MTTP	HP:0012153	Hypotriglyceridemia
4547	MTTP	HP:0002751	Kyphoscoliosis
4547	MTTP	HP:0002028	Chronic diarrhea
4547	MTTP	HP:0003326	Myalgia
4547	MTTP	HP:0002013	Vomiting
4547	MTTP	HP:0002066	Gait ataxia
4547	MTTP	HP:0003376	Steppage gait
4547	MTTP	HP:0100512	Low levels of vitamin D
4547	MTTP	HP:0100513	Low levels of vitamin E
4547	MTTP	HP:0008181	Abetalipoproteinemia
4547	MTTP	HP:0008151	Prolonged prothrombin time
4547	MTTP	HP:0003487	Babinski sign
4547	MTTP	HP:0002136	Broad-based gait
4547	MTTP	HP:0002240	Hepatomegaly
4547	MTTP	HP:0003563	Decreased LDL cholesterol concentration
4547	MTTP	HP:0025022	Decreased erythrocyte sedimentation rate
4547	MTTP	HP:0010831	Impaired proprioception
4547	MTTP	HP:0001097	Keratoconjunctivitis sicca
4547	MTTP	HP:0004905	Low levels of vitamin A
4547	MTTP	HP:0006858	Impaired distal proprioception
4547	MTTP	HP:0000618	Blindness
4547	MTTP	HP:0001927	Acanthocytosis
4547	MTTP	HP:0001923	Reticulocytosis
4547	MTTP	HP:0000602	Ophthalmoplegia
4547	MTTP	HP:0001903	Anemia
4547	MTTP	HP:0009053	Distal lower limb muscle weakness
4547	MTTP	HP:0000662	Nyctalopia
4547	MTTP	HP:0003073	Hypoalbuminemia
4547	MTTP	HP:0000707	Abnormality of the nervous system
4547	MTTP	HP:0003198	Myopathy
4547	MTTP	HP:0003146	Hypocholesterolemia
4547	MTTP	HP:0012804	Corneal ulceration
4547	MTTP	HP:0000821	Hypothyroidism
4547	MTTP	HP:0003233	Decreased HDL cholesterol concentration
4547	MTTP	HP:0000938	Osteopenia
4547	MTTP	HP:0007703	Abnormality of retinal pigmentation
4547	MTTP	HP:0002878	Respiratory failure
4547	MTTP	HP:0001508	Failure to thrive
4547	MTTP	HP:0011096	Peripheral demyelination
4547	MTTP	HP:0007894	Hypopigmentation of the fundus
4547	MTTP	HP:0002910	Elevated hepatic transaminase
4547	MTTP	HP:0002904	Hyperbilirubinemia
4547	MTTP	HP:0001640	Cardiomegaly
4547	MTTP	HP:0001635	Congestive heart failure
4547	MTTP	HP:0000488	Retinopathy
4547	MTTP	HP:0001762	Talipes equinovarus
4547	MTTP	HP:0001761	Pes cavus
4547	MTTP	HP:0000510	Rod-cone dystrophy
4547	MTTP	HP:0000529	Progressive visual loss
4547	MTTP	HP:0000508	Ptosis
4547	MTTP	HP:0000575	Scotoma
4547	MTTP	HP:0001892	Abnormal bleeding
4547	MTTP	HP:0000551	Color vision defect
4547	MTTP	HP:0000546	Retinal degeneration
4548	MTR	HP:0001290	Generalized hypotonia
4548	MTR	HP:0001288	Gait disturbance
4548	MTR	HP:0001250	Seizure
4548	MTR	HP:0001252	Hypotonia
4548	MTR	HP:0001249	Intellectual disability
4548	MTR	HP:0001263	Global developmental delay
4548	MTR	HP:0008872	Feeding difficulties in infancy
4548	MTR	HP:0000007	Autosomal recessive inheritance
4548	MTR	HP:0012120	Methylmalonic aciduria
4548	MTR	HP:0002059	Cerebral atrophy
4548	MTR	HP:0002156	Homocystinuria
4548	MTR	HP:0002160	Hyperhomocystinemia
4548	MTR	HP:0003593	Infantile onset
4548	MTR	HP:0003524	Decreased methionine synthase activity
4548	MTR	HP:0002370	Poor coordination
4548	MTR	HP:0003658	Hypomethioninemia
4548	MTR	HP:0000639	Nystagmus
4548	MTR	HP:0000618	Blindness
4548	MTR	HP:0001939	Abnormality of metabolism/homeostasis
4548	MTR	HP:0003223	Decreased methylcobalamin
4548	MTR	HP:0010301	Spinal dysraphism
4548	MTR	HP:0001508	Failure to thrive
4548	MTR	HP:0002912	Methylmalonic acidemia
4548	MTR	HP:0001889	Megaloblastic anemia
4549	MT-RNR1	HP:0001251	Ataxia
4549	MT-RNR1	HP:0100543	Cognitive impairment
4549	MT-RNR1	HP:0002123	Generalized myoclonic seizure
4549	MT-RNR1	HP:0003457	EMG abnormality
4549	MT-RNR1	HP:0001012	Multiple lipomas
4549	MT-RNR1	HP:0000648	Optic atrophy
4549	MT-RNR1	HP:0004322	Short stature
4549	MT-RNR1	HP:0100022	Abnormality of movement
4549	MT-RNR1	HP:0003198	Myopathy
4549	MT-RNR1	HP:0003200	Ragged-red muscle fibers
4549	MT-RNR1	HP:0000407	Sensorineural hearing impairment
4552	MTRR	HP:0002487	Hyperkinetic movements
4552	MTRR	HP:0001159	Syndactyly
4552	MTRR	HP:0001276	Hypertonia
4552	MTRR	HP:0100820	Glomerulopathy
4552	MTRR	HP:0001288	Gait disturbance
4552	MTRR	HP:0001254	Lethargy
4552	MTRR	HP:0001250	Seizure
4552	MTRR	HP:0001252	Hypotonia
4552	MTRR	HP:0001249	Intellectual disability
4552	MTRR	HP:0001263	Global developmental delay
4552	MTRR	HP:0001262	Excessive daytime somnolence
4552	MTRR	HP:0002500	Abnormal cerebral white matter morphology
4552	MTRR	HP:0001392	Abnormality of the liver
4552	MTRR	HP:0008897	Postnatal growth retardation
4552	MTRR	HP:0000007	Autosomal recessive inheritance
4552	MTRR	HP:0002650	Scoliosis
4552	MTRR	HP:0002625	Deep venous thrombosis
4552	MTRR	HP:0012120	Methylmalonic aciduria
4552	MTRR	HP:0002013	Vomiting
4552	MTRR	HP:0002059	Cerebral atrophy
4552	MTRR	HP:0002156	Homocystinuria
4552	MTRR	HP:0002120	Cerebral cortical atrophy
4552	MTRR	HP:0002119	Ventriculomegaly
4552	MTRR	HP:0002167	Abnormality of speech or vocalization
4552	MTRR	HP:0002160	Hyperhomocystinemia
4552	MTRR	HP:0003593	Infantile onset
4552	MTRR	HP:0003524	Decreased methionine synthase activity
4552	MTRR	HP:0011968	Feeding difficulties
4552	MTRR	HP:0002365	Hypoplasia of the brainstem
4552	MTRR	HP:0002329	Drowsiness
4552	MTRR	HP:0003658	Hypomethioninemia
4552	MTRR	HP:0009830	Peripheral neuropathy
4552	MTRR	HP:0003623	Neonatal onset
4552	MTRR	HP:0007185	Loss of consciousness
4552	MTRR	HP:0005518	Increased mean corpuscular volume
4552	MTRR	HP:0005575	Hemolytic-uremic syndrome
4552	MTRR	HP:0006895	Lower limb hypertonia
4552	MTRR	HP:0006887	Intellectual disability, progressive
4552	MTRR	HP:0000639	Nystagmus
4552	MTRR	HP:0001980	Megaloblastic bone marrow
4552	MTRR	HP:0001972	Macrocytic anemia
4552	MTRR	HP:0000618	Blindness
4552	MTRR	HP:0001939	Abnormality of metabolism/homeostasis
4552	MTRR	HP:0001907	Thromboembolism
4552	MTRR	HP:0011344	Severe global developmental delay
4552	MTRR	HP:0100022	Abnormality of movement
4552	MTRR	HP:0012704	Widened subarachnoid space
4552	MTRR	HP:0000708	Atypical behavior
4552	MTRR	HP:0000924	Abnormality of the skeletal system
4552	MTRR	HP:0000822	Hypertension
4552	MTRR	HP:0003223	Decreased methylcobalamin
4552	MTRR	HP:0010301	Spinal dysraphism
4552	MTRR	HP:0000939	Osteoporosis
4552	MTRR	HP:0030084	Clinodactyly
4552	MTRR	HP:0000238	Hydrocephalus
4552	MTRR	HP:0000252	Microcephaly
4552	MTRR	HP:0001508	Failure to thrive
4552	MTRR	HP:0001511	Intrauterine growth retardation
4552	MTRR	HP:0002912	Methylmalonic acidemia
4552	MTRR	HP:0000365	Hearing impairment
4552	MTRR	HP:0001626	Abnormality of the cardiovascular system
4552	MTRR	HP:0000478	Abnormality of the eye
4552	MTRR	HP:0012448	Delayed myelination
4552	MTRR	HP:0012444	Brain atrophy
4552	MTRR	HP:0000505	Visual impairment
4552	MTRR	HP:0001889	Megaloblastic anemia
4552	MTRR	HP:0001897	Normocytic anemia
4552	MTRR	HP:0001876	Pancytopenia
4552	MTRR	HP:0001875	Neutropenia
4556	MT-TE	HP:0002495	Impaired vibratory sensation
4556	MT-TE	HP:0003749	Pelvic girdle muscle weakness
4556	MT-TE	HP:0003756	Skeletal myopathy
4556	MT-TE	HP:0001290	Generalized hypotonia
4556	MT-TE	HP:0100820	Glomerulopathy
4556	MT-TE	HP:0001251	Ataxia
4556	MT-TE	HP:0001265	Hyporeflexia
4556	MT-TE	HP:0001260	Dysarthria
4556	MT-TE	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4556	MT-TE	HP:0002540	Inability to walk
4556	MT-TE	HP:0000083	Renal insufficiency
4556	MT-TE	HP:0000093	Proteinuria
4556	MT-TE	HP:0001392	Abnormality of the liver
4556	MT-TE	HP:0012036	Sternocleidomastoid amyotrophy
4556	MT-TE	HP:0001324	Muscle weakness
4556	MT-TE	HP:0001319	Neonatal hypotonia
4556	MT-TE	HP:0000158	Macroglossia
4556	MT-TE	HP:0008944	Distal lower limb amyotrophy
4556	MT-TE	HP:0031258	Delirium
4556	MT-TE	HP:0002024	Malabsorption
4556	MT-TE	HP:0002019	Constipation
4556	MT-TE	HP:0002033	Poor suck
4556	MT-TE	HP:0003326	Myalgia
4556	MT-TE	HP:0005978	Type II diabetes mellitus
4556	MT-TE	HP:0005946	Ventilator dependence with inability to wean
4556	MT-TE	HP:0002098	Respiratory distress
4556	MT-TE	HP:0002073	Progressive cerebellar ataxia
4556	MT-TE	HP:0008180	Mildly elevated creatine kinase
4556	MT-TE	HP:0003477	Peripheral axonal neuropathy
4556	MT-TE	HP:0003487	Babinski sign
4556	MT-TE	HP:0011923	Decreased activity of mitochondrial complex I
4556	MT-TE	HP:0002194	Delayed gross motor development
4556	MT-TE	HP:0002240	Hepatomegaly
4556	MT-TE	HP:0003551	Difficulty climbing stairs
4556	MT-TE	HP:0003547	Shoulder girdle muscle weakness
4556	MT-TE	HP:0003546	Exercise intolerance
4556	MT-TE	HP:0004887	Respiratory failure requiring assisted ventilation
4556	MT-TE	HP:0100753	Schizophrenia
4556	MT-TE	HP:0002395	Lower limb hyperreflexia
4556	MT-TE	HP:0002359	Frequent falls
4556	MT-TE	HP:0003688	Cytochrome C oxidase-negative muscle fibers
4556	MT-TE	HP:0002342	Intellectual disability, moderate
4556	MT-TE	HP:0100651	Type I diabetes mellitus
4556	MT-TE	HP:0007126	Proximal amyotrophy
4556	MT-TE	HP:0004900	Severe lactic acidosis
4556	MT-TE	HP:0009073	Progressive proximal muscle weakness
4556	MT-TE	HP:0009051	Increased muscle glycogen content
4556	MT-TE	HP:0009058	Increased muscle lipid content
4556	MT-TE	HP:0009046	Difficulty running
4556	MT-TE	HP:0000726	Dementia
4556	MT-TE	HP:0000707	Abnormality of the nervous system
4556	MT-TE	HP:0011470	Nasogastric tube feeding in infancy
4556	MT-TE	HP:0003119	Abnormal circulating lipid concentration
4556	MT-TE	HP:0003198	Myopathy
4556	MT-TE	HP:0000822	Hypertension
4556	MT-TE	HP:0003234	Decreased plasma carnitine
4556	MT-TE	HP:0003200	Ragged-red muscle fibers
4556	MT-TE	HP:0011675	Arrhythmia
4556	MT-TE	HP:0007754	Macular dystrophy
4556	MT-TE	HP:0000218	High palate
4556	MT-TE	HP:0030051	Tip-toe gait
4556	MT-TE	HP:0012391	Hyporeflexia of upper limbs
4556	MT-TE	HP:0001626	Abnormality of the cardiovascular system
4556	MT-TE	HP:0001639	Hypertrophic cardiomyopathy
4556	MT-TE	HP:0001635	Congestive heart failure
4556	MT-TE	HP:0030319	Weakness of facial musculature
4556	MT-TE	HP:0000407	Sensorineural hearing impairment
4556	MT-TE	HP:0000488	Retinopathy
4556	MT-TE	HP:0001771	Achilles tendon contracture
4556	MT-TE	HP:0012507	Weakness of orbicularis oculi muscle
4556	MT-TE	HP:0000518	Cataract
4556	MT-TE	HP:0000505	Visual impairment
4556	MT-TE	HP:0000532	Abnormal chorioretinal morphology
4556	MT-TE	HP:0000544	External ophthalmoplegia
4558	MT-TF	HP:0002490	Increased CSF lactate
4558	MT-TF	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4558	MT-TF	HP:0007302	Bipolar affective disorder
4558	MT-TF	HP:0008619	Bilateral sensorineural hearing impairment
4558	MT-TF	HP:0003737	Mitochondrial myopathy
4558	MT-TF	HP:0002401	Stroke-like episode
4558	MT-TF	HP:0001298	Encephalopathy
4558	MT-TF	HP:0025268	Stuttering
4558	MT-TF	HP:0001274	Agenesis of corpus callosum
4558	MT-TF	HP:0001270	Motor delay
4558	MT-TF	HP:0001269	Hemiparesis
4558	MT-TF	HP:0001288	Gait disturbance
4558	MT-TF	HP:0001250	Seizure
4558	MT-TF	HP:0001251	Ataxia
4558	MT-TF	HP:0002579	Gastrointestinal dysmotility
4558	MT-TF	HP:0001263	Global developmental delay
4558	MT-TF	HP:0001257	Spasticity
4558	MT-TF	HP:0002572	Episodic vomiting
4558	MT-TF	HP:0007359	Focal-onset seizure
4558	MT-TF	HP:0003828	Variable expressivity
4558	MT-TF	HP:0000097	Focal segmental glomerulosclerosis
4558	MT-TF	HP:0000093	Proteinuria
4558	MT-TF	HP:0000044	Hypogonadotropic hypogonadism
4558	MT-TF	HP:0001345	Psychotic mentation
4558	MT-TF	HP:0001328	Specific learning disability
4558	MT-TF	HP:0001324	Muscle weakness
4558	MT-TF	HP:0001336	Myoclonus
4558	MT-TF	HP:0000114	Proximal tubulopathy
4558	MT-TF	HP:0001427	Mitochondrial inheritance
4558	MT-TF	HP:0000112	Nephropathy
4558	MT-TF	HP:0002019	Constipation
4558	MT-TF	HP:0002014	Diarrhea
4558	MT-TF	HP:0002013	Vomiting
4558	MT-TF	HP:0005978	Type II diabetes mellitus
4558	MT-TF	HP:0100543	Cognitive impairment
4558	MT-TF	HP:0002092	Pulmonary arterial hypertension
4558	MT-TF	HP:0002069	Bilateral tonic-clonic seizure
4558	MT-TF	HP:0002079	Hypoplasia of the corpus callosum
4558	MT-TF	HP:0002076	Migraine
4558	MT-TF	HP:0003477	Peripheral axonal neuropathy
4558	MT-TF	HP:0002151	Increased serum lactate
4558	MT-TF	HP:0002123	Generalized myoclonic seizure
4558	MT-TF	HP:0002120	Cerebral cortical atrophy
4558	MT-TF	HP:0002135	Basal ganglia calcification
4558	MT-TF	HP:0003457	EMG abnormality
4558	MT-TF	HP:0100704	Cerebral visual impairment
4558	MT-TF	HP:0003546	Exercise intolerance
4558	MT-TF	HP:0003542	Increased serum pyruvate
4558	MT-TF	HP:0008316	Abnormal mitochondria in muscle tissue
4558	MT-TF	HP:0007067	Distal peripheral sensory neuropathy
4558	MT-TF	HP:0002381	Aphasia
4558	MT-TF	HP:0001045	Vitiligo
4558	MT-TF	HP:0001012	Multiple lipomas
4558	MT-TF	HP:0002353	EEG abnormality
4558	MT-TF	HP:0002354	Memory impairment
4558	MT-TF	HP:0002331	Recurrent paroxysmal headache
4558	MT-TF	HP:0100651	Type I diabetes mellitus
4558	MT-TF	HP:0009830	Peripheral neuropathy
4558	MT-TF	HP:0010794	Impaired visuospatial constructive cognition
4558	MT-TF	HP:0007159	Fluctuations in consciousness
4558	MT-TF	HP:0010783	Erythema
4558	MT-TF	HP:0007141	Sensorimotor neuropathy
4558	MT-TF	HP:0000648	Optic atrophy
4558	MT-TF	HP:0001945	Fever
4558	MT-TF	HP:0000602	Ophthalmoplegia
4558	MT-TF	HP:0001903	Anemia
4558	MT-TF	HP:0004322	Short stature
4558	MT-TF	HP:0004389	Intestinal pseudo-obstruction
4558	MT-TF	HP:0004372	Reduced consciousness/confusion
4558	MT-TF	HP:0000751	Personality changes
4558	MT-TF	HP:0100022	Abnormality of movement
4558	MT-TF	HP:0100027	Recurrent pancreatitis
4558	MT-TF	HP:0000739	Anxiety
4558	MT-TF	HP:0000736	Short attention span
4558	MT-TF	HP:0012707	Elevated brain lactate level by MRS
4558	MT-TF	HP:0000716	Depression
4558	MT-TF	HP:0000726	Dementia
4558	MT-TF	HP:0000709	Psychosis
4558	MT-TF	HP:0012766	Widened cerebral subarachnoid space
4558	MT-TF	HP:0011442	Abnormal central motor function
4558	MT-TF	HP:0003198	Myopathy
4558	MT-TF	HP:0003128	Lactic acidosis
4558	MT-TF	HP:0000819	Diabetes mellitus
4558	MT-TF	HP:0000829	Hypoparathyroidism
4558	MT-TF	HP:0000822	Hypertension
4558	MT-TF	HP:0000821	Hypothyroidism
4558	MT-TF	HP:0003200	Ragged-red muscle fibers
4558	MT-TF	HP:0000998	Hypertrichosis
4558	MT-TF	HP:0011675	Arrhythmia
4558	MT-TF	HP:0001508	Failure to thrive
4558	MT-TF	HP:0001507	Growth abnormality
4558	MT-TF	HP:0012377	Hemianopia
4558	MT-TF	HP:0002922	Increased CSF protein concentration
4558	MT-TF	HP:0005157	Concentric hypertrophic cardiomyopathy
4558	MT-TF	HP:0005162	Abnormal left ventricular function
4558	MT-TF	HP:0001644	Dilated cardiomyopathy
4558	MT-TF	HP:0001639	Hypertrophic cardiomyopathy
4558	MT-TF	HP:0001635	Congestive heart failure
4558	MT-TF	HP:0001638	Cardiomyopathy
4558	MT-TF	HP:0000408	Progressive sensorineural hearing impairment
4558	MT-TF	HP:0000407	Sensorineural hearing impairment
4558	MT-TF	HP:0001716	Wolff-Parkinson-White syndrome
4558	MT-TF	HP:0001712	Left ventricular hypertrophy
4558	MT-TF	HP:0031546	Cardiac conduction abnormality
4558	MT-TF	HP:0012444	Brain atrophy
4558	MT-TF	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4558	MT-TF	HP:0000519	Developmental cataract
4558	MT-TF	HP:0000580	Pigmentary retinopathy
4558	MT-TF	HP:0000590	Progressive external ophthalmoplegia
4558	MT-TF	HP:0000572	Visual loss
4564	MT-TH	HP:0002490	Increased CSF lactate
4564	MT-TH	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4564	MT-TH	HP:0007302	Bipolar affective disorder
4564	MT-TH	HP:0002401	Stroke-like episode
4564	MT-TH	HP:0001298	Encephalopathy
4564	MT-TH	HP:0025268	Stuttering
4564	MT-TH	HP:0001274	Agenesis of corpus callosum
4564	MT-TH	HP:0001270	Motor delay
4564	MT-TH	HP:0001269	Hemiparesis
4564	MT-TH	HP:0001288	Gait disturbance
4564	MT-TH	HP:0001250	Seizure
4564	MT-TH	HP:0001251	Ataxia
4564	MT-TH	HP:0002579	Gastrointestinal dysmotility
4564	MT-TH	HP:0001263	Global developmental delay
4564	MT-TH	HP:0007359	Focal-onset seizure
4564	MT-TH	HP:0000097	Focal segmental glomerulosclerosis
4564	MT-TH	HP:0000093	Proteinuria
4564	MT-TH	HP:0000044	Hypogonadotropic hypogonadism
4564	MT-TH	HP:0001345	Psychotic mentation
4564	MT-TH	HP:0001328	Specific learning disability
4564	MT-TH	HP:0001324	Muscle weakness
4564	MT-TH	HP:0001336	Myoclonus
4564	MT-TH	HP:0000114	Proximal tubulopathy
4564	MT-TH	HP:0000112	Nephropathy
4564	MT-TH	HP:0002019	Constipation
4564	MT-TH	HP:0002014	Diarrhea
4564	MT-TH	HP:0002013	Vomiting
4564	MT-TH	HP:0005978	Type II diabetes mellitus
4564	MT-TH	HP:0100543	Cognitive impairment
4564	MT-TH	HP:0002092	Pulmonary arterial hypertension
4564	MT-TH	HP:0002069	Bilateral tonic-clonic seizure
4564	MT-TH	HP:0002079	Hypoplasia of the corpus callosum
4564	MT-TH	HP:0002076	Migraine
4564	MT-TH	HP:0003477	Peripheral axonal neuropathy
4564	MT-TH	HP:0002151	Increased serum lactate
4564	MT-TH	HP:0002123	Generalized myoclonic seizure
4564	MT-TH	HP:0002120	Cerebral cortical atrophy
4564	MT-TH	HP:0002135	Basal ganglia calcification
4564	MT-TH	HP:0003457	EMG abnormality
4564	MT-TH	HP:0003546	Exercise intolerance
4564	MT-TH	HP:0008316	Abnormal mitochondria in muscle tissue
4564	MT-TH	HP:0007067	Distal peripheral sensory neuropathy
4564	MT-TH	HP:0002381	Aphasia
4564	MT-TH	HP:0001045	Vitiligo
4564	MT-TH	HP:0001012	Multiple lipomas
4564	MT-TH	HP:0002353	EEG abnormality
4564	MT-TH	HP:0002354	Memory impairment
4564	MT-TH	HP:0002331	Recurrent paroxysmal headache
4564	MT-TH	HP:0100651	Type I diabetes mellitus
4564	MT-TH	HP:0009830	Peripheral neuropathy
4564	MT-TH	HP:0010794	Impaired visuospatial constructive cognition
4564	MT-TH	HP:0007159	Fluctuations in consciousness
4564	MT-TH	HP:0010783	Erythema
4564	MT-TH	HP:0007141	Sensorimotor neuropathy
4564	MT-TH	HP:0000648	Optic atrophy
4564	MT-TH	HP:0001945	Fever
4564	MT-TH	HP:0001903	Anemia
4564	MT-TH	HP:0004322	Short stature
4564	MT-TH	HP:0004389	Intestinal pseudo-obstruction
4564	MT-TH	HP:0004372	Reduced consciousness/confusion
4564	MT-TH	HP:0000751	Personality changes
4564	MT-TH	HP:0100022	Abnormality of movement
4564	MT-TH	HP:0100027	Recurrent pancreatitis
4564	MT-TH	HP:0000739	Anxiety
4564	MT-TH	HP:0000736	Short attention span
4564	MT-TH	HP:0012707	Elevated brain lactate level by MRS
4564	MT-TH	HP:0000716	Depression
4564	MT-TH	HP:0000726	Dementia
4564	MT-TH	HP:0000709	Psychosis
4564	MT-TH	HP:0012766	Widened cerebral subarachnoid space
4564	MT-TH	HP:0011442	Abnormal central motor function
4564	MT-TH	HP:0003198	Myopathy
4564	MT-TH	HP:0003128	Lactic acidosis
4564	MT-TH	HP:0000819	Diabetes mellitus
4564	MT-TH	HP:0000829	Hypoparathyroidism
4564	MT-TH	HP:0000821	Hypothyroidism
4564	MT-TH	HP:0003200	Ragged-red muscle fibers
4564	MT-TH	HP:0000998	Hypertrichosis
4564	MT-TH	HP:0001508	Failure to thrive
4564	MT-TH	HP:0002922	Increased CSF protein concentration
4564	MT-TH	HP:0005157	Concentric hypertrophic cardiomyopathy
4564	MT-TH	HP:0001644	Dilated cardiomyopathy
4564	MT-TH	HP:0001639	Hypertrophic cardiomyopathy
4564	MT-TH	HP:0001638	Cardiomyopathy
4564	MT-TH	HP:0000407	Sensorineural hearing impairment
4564	MT-TH	HP:0001716	Wolff-Parkinson-White syndrome
4564	MT-TH	HP:0031546	Cardiac conduction abnormality
4564	MT-TH	HP:0012444	Brain atrophy
4564	MT-TH	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4564	MT-TH	HP:0000580	Pigmentary retinopathy
4564	MT-TH	HP:0000590	Progressive external ophthalmoplegia
4564	MT-TH	HP:0000572	Visual loss
4565	MT-TI	HP:0001250	Seizure
4565	MT-TI	HP:0001251	Ataxia
4565	MT-TI	HP:0001257	Spasticity
4565	MT-TI	HP:0001324	Muscle weakness
4565	MT-TI	HP:0001336	Myoclonus
4565	MT-TI	HP:0001427	Mitochondrial inheritance
4565	MT-TI	HP:0002151	Increased serum lactate
4565	MT-TI	HP:0002123	Generalized myoclonic seizure
4565	MT-TI	HP:0003542	Increased serum pyruvate
4565	MT-TI	HP:0003198	Myopathy
4565	MT-TI	HP:0003200	Ragged-red muscle fibers
4565	MT-TI	HP:0000407	Sensorineural hearing impairment
4566	MT-TK	HP:0002483	Bulbar signs
4566	MT-TK	HP:0002490	Increased CSF lactate
4566	MT-TK	HP:0008619	Bilateral sensorineural hearing impairment
4566	MT-TK	HP:0003737	Mitochondrial myopathy
4566	MT-TK	HP:0002401	Stroke-like episode
4566	MT-TK	HP:0001298	Encephalopathy
4566	MT-TK	HP:0001276	Hypertonia
4566	MT-TK	HP:0100820	Glomerulopathy
4566	MT-TK	HP:0001269	Hemiparesis
4566	MT-TK	HP:0001268	Mental deterioration
4566	MT-TK	HP:0001288	Gait disturbance
4566	MT-TK	HP:0001250	Seizure
4566	MT-TK	HP:0001251	Ataxia
4566	MT-TK	HP:0001265	Hyporeflexia
4566	MT-TK	HP:0001257	Spasticity
4566	MT-TK	HP:0002572	Episodic vomiting
4566	MT-TK	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4566	MT-TK	HP:0003828	Variable expressivity
4566	MT-TK	HP:0000083	Renal insufficiency
4566	MT-TK	HP:0000091	Abnormal renal tubule morphology
4566	MT-TK	HP:0000093	Proteinuria
4566	MT-TK	HP:0001399	Hepatic failure
4566	MT-TK	HP:0001350	Slurred speech
4566	MT-TK	HP:0001347	Hyperreflexia
4566	MT-TK	HP:0001332	Dystonia
4566	MT-TK	HP:0001324	Muscle weakness
4566	MT-TK	HP:0001336	Myoclonus
4566	MT-TK	HP:0008947	Infantile muscular hypotonia
4566	MT-TK	HP:0001427	Mitochondrial inheritance
4566	MT-TK	HP:0002024	Malabsorption
4566	MT-TK	HP:0002019	Constipation
4566	MT-TK	HP:0003348	Hyperalaninemia
4566	MT-TK	HP:0003326	Myalgia
4566	MT-TK	HP:0002015	Dysphagia
4566	MT-TK	HP:0005978	Type II diabetes mellitus
4566	MT-TK	HP:0100543	Cognitive impairment
4566	MT-TK	HP:0002094	Dyspnea
4566	MT-TK	HP:0002069	Bilateral tonic-clonic seizure
4566	MT-TK	HP:0002066	Gait ataxia
4566	MT-TK	HP:0002076	Migraine
4566	MT-TK	HP:0002072	Chorea
4566	MT-TK	HP:0002045	Hypothermia
4566	MT-TK	HP:0002151	Increased serum lactate
4566	MT-TK	HP:0003481	Segmental peripheral demyelination/remyelination
4566	MT-TK	HP:0002123	Generalized myoclonic seizure
4566	MT-TK	HP:0003457	EMG abnormality
4566	MT-TK	HP:0002104	Apnea
4566	MT-TK	HP:0003572	Low plasma citrulline
4566	MT-TK	HP:0002240	Hepatomegaly
4566	MT-TK	HP:0100704	Cerebral visual impairment
4566	MT-TK	HP:0004885	Episodic respiratory distress
4566	MT-TK	HP:0003546	Exercise intolerance
4566	MT-TK	HP:0003542	Increased serum pyruvate
4566	MT-TK	HP:0100749	Chest pain
4566	MT-TK	HP:0002376	Developmental regression
4566	MT-TK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
4566	MT-TK	HP:0001012	Multiple lipomas
4566	MT-TK	HP:0003648	Lacticaciduria
4566	MT-TK	HP:0100660	Dyskinesia
4566	MT-TK	HP:0009830	Peripheral neuropathy
4566	MT-TK	HP:0100611	Multiple glomerular cysts
4566	MT-TK	HP:0007141	Sensorimotor neuropathy
4566	MT-TK	HP:0007108	Demyelinating peripheral neuropathy
4566	MT-TK	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4566	MT-TK	HP:0000639	Nystagmus
4566	MT-TK	HP:0000648	Optic atrophy
4566	MT-TK	HP:0001945	Fever
4566	MT-TK	HP:0000602	Ophthalmoplegia
4566	MT-TK	HP:0011344	Severe global developmental delay
4566	MT-TK	HP:0011342	Mild global developmental delay
4566	MT-TK	HP:0004322	Short stature
4566	MT-TK	HP:0030680	Abnormality of cardiovascular system morphology
4566	MT-TK	HP:0100022	Abnormality of movement
4566	MT-TK	HP:0000726	Dementia
4566	MT-TK	HP:0009126	Increased adipose tissue
4566	MT-TK	HP:0003119	Abnormal circulating lipid concentration
4566	MT-TK	HP:0003198	Myopathy
4566	MT-TK	HP:0003128	Lactic acidosis
4566	MT-TK	HP:0000819	Diabetes mellitus
4566	MT-TK	HP:0000816	Abnormality of Krebs cycle metabolism
4566	MT-TK	HP:0000822	Hypertension
4566	MT-TK	HP:0003200	Ragged-red muscle fibers
4566	MT-TK	HP:0011675	Arrhythmia
4566	MT-TK	HP:0007754	Macular dystrophy
4566	MT-TK	HP:0002883	Hyperventilation
4566	MT-TK	HP:0001508	Failure to thrive
4566	MT-TK	HP:0001507	Growth abnormality
4566	MT-TK	HP:0012378	Fatigue
4566	MT-TK	HP:0012377	Hemianopia
4566	MT-TK	HP:0005162	Abnormal left ventricular function
4566	MT-TK	HP:0031434	Abnormal prosody
4566	MT-TK	HP:0001644	Dilated cardiomyopathy
4566	MT-TK	HP:0001639	Hypertrophic cardiomyopathy
4566	MT-TK	HP:0001635	Congestive heart failure
4566	MT-TK	HP:0000408	Progressive sensorineural hearing impairment
4566	MT-TK	HP:0000407	Sensorineural hearing impairment
4566	MT-TK	HP:0001716	Wolff-Parkinson-White syndrome
4566	MT-TK	HP:0001712	Left ventricular hypertrophy
4566	MT-TK	HP:0031546	Cardiac conduction abnormality
4566	MT-TK	HP:0012469	Infantile spasms
4566	MT-TK	HP:0000488	Retinopathy
4566	MT-TK	HP:0000518	Cataract
4566	MT-TK	HP:0000519	Developmental cataract
4566	MT-TK	HP:0000510	Rod-cone dystrophy
4566	MT-TK	HP:0000505	Visual impairment
4566	MT-TK	HP:0000597	Ophthalmoparesis
4566	MT-TK	HP:0000580	Pigmentary retinopathy
4566	MT-TK	HP:0000590	Progressive external ophthalmoplegia
4566	MT-TK	HP:0000532	Abnormal chorioretinal morphology
4566	MT-TK	HP:0012514	Lower limb pain
4566	MT-TK	HP:0000544	External ophthalmoplegia
4567	MT-TL1	HP:0002483	Bulbar signs
4567	MT-TL1	HP:0002490	Increased CSF lactate
4567	MT-TL1	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4567	MT-TL1	HP:0007302	Bipolar affective disorder
4567	MT-TL1	HP:0008619	Bilateral sensorineural hearing impairment
4567	MT-TL1	HP:0003737	Mitochondrial myopathy
4567	MT-TL1	HP:0002401	Stroke-like episode
4567	MT-TL1	HP:0001298	Encephalopathy
4567	MT-TL1	HP:0025268	Stuttering
4567	MT-TL1	HP:0001276	Hypertonia
4567	MT-TL1	HP:0001274	Agenesis of corpus callosum
4567	MT-TL1	HP:0001270	Motor delay
4567	MT-TL1	HP:0100820	Glomerulopathy
4567	MT-TL1	HP:0001269	Hemiparesis
4567	MT-TL1	HP:0001288	Gait disturbance
4567	MT-TL1	HP:0001256	Intellectual disability, mild
4567	MT-TL1	HP:0001250	Seizure
4567	MT-TL1	HP:0001252	Hypotonia
4567	MT-TL1	HP:0001251	Ataxia
4567	MT-TL1	HP:0002579	Gastrointestinal dysmotility
4567	MT-TL1	HP:0001265	Hyporeflexia
4567	MT-TL1	HP:0001263	Global developmental delay
4567	MT-TL1	HP:0001257	Spasticity
4567	MT-TL1	HP:0002572	Episodic vomiting
4567	MT-TL1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4567	MT-TL1	HP:0007359	Focal-onset seizure
4567	MT-TL1	HP:0003828	Variable expressivity
4567	MT-TL1	HP:0003800	Muscle abnormality related to mitochondrial dysfunction
4567	MT-TL1	HP:0000083	Renal insufficiency
4567	MT-TL1	HP:0000097	Focal segmental glomerulosclerosis
4567	MT-TL1	HP:0000091	Abnormal renal tubule morphology
4567	MT-TL1	HP:0000093	Proteinuria
4567	MT-TL1	HP:0001399	Hepatic failure
4567	MT-TL1	HP:0000044	Hypogonadotropic hypogonadism
4567	MT-TL1	HP:0001345	Psychotic mentation
4567	MT-TL1	HP:0001348	Brisk reflexes
4567	MT-TL1	HP:0001347	Hyperreflexia
4567	MT-TL1	HP:0001332	Dystonia
4567	MT-TL1	HP:0001328	Specific learning disability
4567	MT-TL1	HP:0001324	Muscle weakness
4567	MT-TL1	HP:0001336	Myoclonus
4567	MT-TL1	HP:0001315	Reduced tendon reflexes
4567	MT-TL1	HP:0008947	Infantile muscular hypotonia
4567	MT-TL1	HP:0000114	Proximal tubulopathy
4567	MT-TL1	HP:0001427	Mitochondrial inheritance
4567	MT-TL1	HP:0000112	Nephropathy
4567	MT-TL1	HP:0002750	Delayed skeletal maturation
4567	MT-TL1	HP:0002747	Respiratory insufficiency due to muscle weakness
4567	MT-TL1	HP:0002024	Malabsorption
4567	MT-TL1	HP:0002019	Constipation
4567	MT-TL1	HP:0003348	Hyperalaninemia
4567	MT-TL1	HP:0003327	Axial muscle weakness
4567	MT-TL1	HP:0003326	Myalgia
4567	MT-TL1	HP:0002014	Diarrhea
4567	MT-TL1	HP:0002015	Dysphagia
4567	MT-TL1	HP:0002013	Vomiting
4567	MT-TL1	HP:0005978	Type II diabetes mellitus
4567	MT-TL1	HP:0004622	Progressive intervertebral space narrowing
4567	MT-TL1	HP:0100543	Cognitive impairment
4567	MT-TL1	HP:0002094	Dyspnea
4567	MT-TL1	HP:0002092	Pulmonary arterial hypertension
4567	MT-TL1	HP:0002091	Restrictive ventilatory defect
4567	MT-TL1	HP:0002069	Bilateral tonic-clonic seizure
4567	MT-TL1	HP:0002066	Gait ataxia
4567	MT-TL1	HP:0002079	Hypoplasia of the corpus callosum
4567	MT-TL1	HP:0002076	Migraine
4567	MT-TL1	HP:0002072	Chorea
4567	MT-TL1	HP:0002045	Hypothermia
4567	MT-TL1	HP:0008180	Mildly elevated creatine kinase
4567	MT-TL1	HP:0003477	Peripheral axonal neuropathy
4567	MT-TL1	HP:0002151	Increased serum lactate
4567	MT-TL1	HP:0003481	Segmental peripheral demyelination/remyelination
4567	MT-TL1	HP:0002123	Generalized myoclonic seizure
4567	MT-TL1	HP:0002120	Cerebral cortical atrophy
4567	MT-TL1	HP:0002135	Basal ganglia calcification
4567	MT-TL1	HP:0003457	EMG abnormality
4567	MT-TL1	HP:0002104	Apnea
4567	MT-TL1	HP:0003572	Low plasma citrulline
4567	MT-TL1	HP:0002240	Hepatomegaly
4567	MT-TL1	HP:0100704	Cerebral visual impairment
4567	MT-TL1	HP:0004885	Episodic respiratory distress
4567	MT-TL1	HP:0003546	Exercise intolerance
4567	MT-TL1	HP:0003542	Increased serum pyruvate
4567	MT-TL1	HP:0008316	Abnormal mitochondria in muscle tissue
4567	MT-TL1	HP:0007067	Distal peripheral sensory neuropathy
4567	MT-TL1	HP:0002381	Aphasia
4567	MT-TL1	HP:0001045	Vitiligo
4567	MT-TL1	HP:0002376	Developmental regression
4567	MT-TL1	HP:0001012	Multiple lipomas
4567	MT-TL1	HP:0002353	EEG abnormality
4567	MT-TL1	HP:0002354	Memory impairment
4567	MT-TL1	HP:0003648	Lacticaciduria
4567	MT-TL1	HP:0002331	Recurrent paroxysmal headache
4567	MT-TL1	HP:0100651	Type I diabetes mellitus
4567	MT-TL1	HP:0100660	Dyskinesia
4567	MT-TL1	HP:0009830	Peripheral neuropathy
4567	MT-TL1	HP:0100611	Multiple glomerular cysts
4567	MT-TL1	HP:0010794	Impaired visuospatial constructive cognition
4567	MT-TL1	HP:0007159	Fluctuations in consciousness
4567	MT-TL1	HP:0010783	Erythema
4567	MT-TL1	HP:0007141	Sensorimotor neuropathy
4567	MT-TL1	HP:0007108	Demyelinating peripheral neuropathy
4567	MT-TL1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4567	MT-TL1	HP:0009073	Progressive proximal muscle weakness
4567	MT-TL1	HP:0000639	Nystagmus
4567	MT-TL1	HP:0000651	Diplopia
4567	MT-TL1	HP:0000648	Optic atrophy
4567	MT-TL1	HP:0001945	Fever
4567	MT-TL1	HP:0000602	Ophthalmoplegia
4567	MT-TL1	HP:0001903	Anemia
4567	MT-TL1	HP:0011344	Severe global developmental delay
4567	MT-TL1	HP:0004322	Short stature
4567	MT-TL1	HP:0004389	Intestinal pseudo-obstruction
4567	MT-TL1	HP:0004374	Hemiplegia/hemiparesis
4567	MT-TL1	HP:0004372	Reduced consciousness/confusion
4567	MT-TL1	HP:0000751	Personality changes
4567	MT-TL1	HP:0100022	Abnormality of movement
4567	MT-TL1	HP:0100027	Recurrent pancreatitis
4567	MT-TL1	HP:0000739	Anxiety
4567	MT-TL1	HP:0000736	Short attention span
4567	MT-TL1	HP:0012707	Elevated brain lactate level by MRS
4567	MT-TL1	HP:0000716	Depression
4567	MT-TL1	HP:0000726	Dementia
4567	MT-TL1	HP:0000709	Psychosis
4567	MT-TL1	HP:0012766	Widened cerebral subarachnoid space
4567	MT-TL1	HP:0011442	Abnormal central motor function
4567	MT-TL1	HP:0003119	Abnormal circulating lipid concentration
4567	MT-TL1	HP:0003198	Myopathy
4567	MT-TL1	HP:0003128	Lactic acidosis
4567	MT-TL1	HP:0000830	Anterior hypopituitarism
4567	MT-TL1	HP:0000819	Diabetes mellitus
4567	MT-TL1	HP:0000816	Abnormality of Krebs cycle metabolism
4567	MT-TL1	HP:0000829	Hypoparathyroidism
4567	MT-TL1	HP:0000822	Hypertension
4567	MT-TL1	HP:0000821	Hypothyroidism
4567	MT-TL1	HP:0003202	Skeletal muscle atrophy
4567	MT-TL1	HP:0003200	Ragged-red muscle fibers
4567	MT-TL1	HP:0000998	Hypertrichosis
4567	MT-TL1	HP:0011675	Arrhythmia
4567	MT-TL1	HP:0007703	Abnormality of retinal pigmentation
4567	MT-TL1	HP:0007754	Macular dystrophy
4567	MT-TL1	HP:0002883	Hyperventilation
4567	MT-TL1	HP:0001508	Failure to thrive
4567	MT-TL1	HP:0001507	Growth abnormality
4567	MT-TL1	HP:0012377	Hemianopia
4567	MT-TL1	HP:0002922	Increased CSF protein concentration
4567	MT-TL1	HP:0005157	Concentric hypertrophic cardiomyopathy
4567	MT-TL1	HP:0005162	Abnormal left ventricular function
4567	MT-TL1	HP:0000365	Hearing impairment
4567	MT-TL1	HP:0031434	Abnormal prosody
4567	MT-TL1	HP:0001644	Dilated cardiomyopathy
4567	MT-TL1	HP:0001639	Hypertrophic cardiomyopathy
4567	MT-TL1	HP:0001635	Congestive heart failure
4567	MT-TL1	HP:0001638	Cardiomyopathy
4567	MT-TL1	HP:0000408	Progressive sensorineural hearing impairment
4567	MT-TL1	HP:0000407	Sensorineural hearing impairment
4567	MT-TL1	HP:0001709	Third degree atrioventricular block
4567	MT-TL1	HP:0001716	Wolff-Parkinson-White syndrome
4567	MT-TL1	HP:0001712	Left ventricular hypertrophy
4567	MT-TL1	HP:0031546	Cardiac conduction abnormality
4567	MT-TL1	HP:0012469	Infantile spasms
4567	MT-TL1	HP:0000488	Retinopathy
4567	MT-TL1	HP:0012444	Brain atrophy
4567	MT-TL1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4567	MT-TL1	HP:0000518	Cataract
4567	MT-TL1	HP:0000519	Developmental cataract
4567	MT-TL1	HP:0000510	Rod-cone dystrophy
4567	MT-TL1	HP:0000508	Ptosis
4567	MT-TL1	HP:0000505	Visual impairment
4567	MT-TL1	HP:0000597	Ophthalmoparesis
4567	MT-TL1	HP:0000580	Pigmentary retinopathy
4567	MT-TL1	HP:0000590	Progressive external ophthalmoplegia
4567	MT-TL1	HP:0000572	Visual loss
4567	MT-TL1	HP:0000532	Abnormal chorioretinal morphology
4567	MT-TL1	HP:0000544	External ophthalmoplegia
4568	MT-TL2	HP:0001256	Intellectual disability, mild
4568	MT-TL2	HP:0003800	Muscle abnormality related to mitochondrial dysfunction
4568	MT-TL2	HP:0001348	Brisk reflexes
4568	MT-TL2	HP:0002747	Respiratory insufficiency due to muscle weakness
4568	MT-TL2	HP:0003327	Axial muscle weakness
4568	MT-TL2	HP:0002091	Restrictive ventilatory defect
4568	MT-TL2	HP:0008180	Mildly elevated creatine kinase
4568	MT-TL2	HP:0002151	Increased serum lactate
4568	MT-TL2	HP:0003457	EMG abnormality
4568	MT-TL2	HP:0008316	Abnormal mitochondria in muscle tissue
4568	MT-TL2	HP:0009073	Progressive proximal muscle weakness
4568	MT-TL2	HP:0000651	Diplopia
4568	MT-TL2	HP:0000716	Depression
4568	MT-TL2	HP:0000821	Hypothyroidism
4568	MT-TL2	HP:0003200	Ragged-red muscle fibers
4568	MT-TL2	HP:0000508	Ptosis
4568	MT-TL2	HP:0000590	Progressive external ophthalmoplegia
4570	MT-TN	HP:0002490	Increased CSF lactate
4570	MT-TN	HP:0001290	Generalized hypotonia
4570	MT-TN	HP:0001270	Motor delay
4570	MT-TN	HP:0001256	Intellectual disability, mild
4570	MT-TN	HP:0001250	Seizure
4570	MT-TN	HP:0001252	Hypotonia
4570	MT-TN	HP:0001251	Ataxia
4570	MT-TN	HP:0001249	Intellectual disability
4570	MT-TN	HP:0001263	Global developmental delay
4570	MT-TN	HP:0003800	Muscle abnormality related to mitochondrial dysfunction
4570	MT-TN	HP:0003819	Death in childhood
4570	MT-TN	HP:0000093	Proteinuria
4570	MT-TN	HP:0001348	Brisk reflexes
4570	MT-TN	HP:0000007	Autosomal recessive inheritance
4570	MT-TN	HP:0000124	Renal tubular dysfunction
4570	MT-TN	HP:0001427	Mitochondrial inheritance
4570	MT-TN	HP:0001410	Decreased liver function
4570	MT-TN	HP:0002747	Respiratory insufficiency due to muscle weakness
4570	MT-TN	HP:0003355	Aminoaciduria
4570	MT-TN	HP:0003327	Axial muscle weakness
4570	MT-TN	HP:0002098	Respiratory distress
4570	MT-TN	HP:0002091	Restrictive ventilatory defect
4570	MT-TN	HP:0002078	Truncal ataxia
4570	MT-TN	HP:0008180	Mildly elevated creatine kinase
4570	MT-TN	HP:0002151	Increased serum lactate
4570	MT-TN	HP:0003457	EMG abnormality
4570	MT-TN	HP:0003593	Infantile onset
4570	MT-TN	HP:0002240	Hepatomegaly
4570	MT-TN	HP:0003546	Exercise intolerance
4570	MT-TN	HP:0008316	Abnormal mitochondria in muscle tissue
4570	MT-TN	HP:0003688	Cytochrome C oxidase-negative muscle fibers
4570	MT-TN	HP:0002376	Developmental regression
4570	MT-TN	HP:0002352	Leukoencephalopathy
4570	MT-TN	HP:0009073	Progressive proximal muscle weakness
4570	MT-TN	HP:0000651	Diplopia
4570	MT-TN	HP:0000648	Optic atrophy
4570	MT-TN	HP:0001903	Anemia
4570	MT-TN	HP:0001994	Renal Fanconi syndrome
4570	MT-TN	HP:0003076	Glycosuria
4570	MT-TN	HP:0000716	Depression
4570	MT-TN	HP:0003109	Hyperphosphaturia
4570	MT-TN	HP:0003128	Lactic acidosis
4570	MT-TN	HP:0000821	Hypothyroidism
4570	MT-TN	HP:0003200	Ragged-red muscle fibers
4570	MT-TN	HP:0012240	Increased intramyocellular lipid droplets
4570	MT-TN	HP:0002878	Respiratory failure
4570	MT-TN	HP:0000218	High palate
4570	MT-TN	HP:0002875	Exertional dyspnea
4570	MT-TN	HP:0001508	Failure to thrive
4570	MT-TN	HP:0006565	Increased hepatocellular lipid droplets
4570	MT-TN	HP:0001639	Hypertrophic cardiomyopathy
4570	MT-TN	HP:0030319	Weakness of facial musculature
4570	MT-TN	HP:0000407	Sensorineural hearing impairment
4570	MT-TN	HP:0000508	Ptosis
4570	MT-TN	HP:0000597	Ophthalmoparesis
4570	MT-TN	HP:0000580	Pigmentary retinopathy
4570	MT-TN	HP:0000590	Progressive external ophthalmoplegia
4571	MT-TP	HP:0001250	Seizure
4571	MT-TP	HP:0001251	Ataxia
4571	MT-TP	HP:0001257	Spasticity
4571	MT-TP	HP:0001324	Muscle weakness
4571	MT-TP	HP:0001336	Myoclonus
4571	MT-TP	HP:0001427	Mitochondrial inheritance
4571	MT-TP	HP:0100543	Cognitive impairment
4571	MT-TP	HP:0002151	Increased serum lactate
4571	MT-TP	HP:0002123	Generalized myoclonic seizure
4571	MT-TP	HP:0003457	EMG abnormality
4571	MT-TP	HP:0003542	Increased serum pyruvate
4571	MT-TP	HP:0001012	Multiple lipomas
4571	MT-TP	HP:0000648	Optic atrophy
4571	MT-TP	HP:0004322	Short stature
4571	MT-TP	HP:0100022	Abnormality of movement
4571	MT-TP	HP:0003198	Myopathy
4571	MT-TP	HP:0003200	Ragged-red muscle fibers
4571	MT-TP	HP:0000407	Sensorineural hearing impairment
4572	MT-TQ	HP:0002490	Increased CSF lactate
4572	MT-TQ	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4572	MT-TQ	HP:0007302	Bipolar affective disorder
4572	MT-TQ	HP:0008619	Bilateral sensorineural hearing impairment
4572	MT-TQ	HP:0003737	Mitochondrial myopathy
4572	MT-TQ	HP:0002401	Stroke-like episode
4572	MT-TQ	HP:0001298	Encephalopathy
4572	MT-TQ	HP:0025268	Stuttering
4572	MT-TQ	HP:0001274	Agenesis of corpus callosum
4572	MT-TQ	HP:0001270	Motor delay
4572	MT-TQ	HP:0001269	Hemiparesis
4572	MT-TQ	HP:0001288	Gait disturbance
4572	MT-TQ	HP:0001250	Seizure
4572	MT-TQ	HP:0001251	Ataxia
4572	MT-TQ	HP:0002579	Gastrointestinal dysmotility
4572	MT-TQ	HP:0001263	Global developmental delay
4572	MT-TQ	HP:0002572	Episodic vomiting
4572	MT-TQ	HP:0007359	Focal-onset seizure
4572	MT-TQ	HP:0003828	Variable expressivity
4572	MT-TQ	HP:0000097	Focal segmental glomerulosclerosis
4572	MT-TQ	HP:0000093	Proteinuria
4572	MT-TQ	HP:0000044	Hypogonadotropic hypogonadism
4572	MT-TQ	HP:0001345	Psychotic mentation
4572	MT-TQ	HP:0001328	Specific learning disability
4572	MT-TQ	HP:0001324	Muscle weakness
4572	MT-TQ	HP:0001336	Myoclonus
4572	MT-TQ	HP:0000114	Proximal tubulopathy
4572	MT-TQ	HP:0001427	Mitochondrial inheritance
4572	MT-TQ	HP:0000112	Nephropathy
4572	MT-TQ	HP:0002019	Constipation
4572	MT-TQ	HP:0002014	Diarrhea
4572	MT-TQ	HP:0002013	Vomiting
4572	MT-TQ	HP:0005978	Type II diabetes mellitus
4572	MT-TQ	HP:0100543	Cognitive impairment
4572	MT-TQ	HP:0002092	Pulmonary arterial hypertension
4572	MT-TQ	HP:0002069	Bilateral tonic-clonic seizure
4572	MT-TQ	HP:0002079	Hypoplasia of the corpus callosum
4572	MT-TQ	HP:0002076	Migraine
4572	MT-TQ	HP:0003477	Peripheral axonal neuropathy
4572	MT-TQ	HP:0002151	Increased serum lactate
4572	MT-TQ	HP:0002123	Generalized myoclonic seizure
4572	MT-TQ	HP:0002120	Cerebral cortical atrophy
4572	MT-TQ	HP:0002135	Basal ganglia calcification
4572	MT-TQ	HP:0003457	EMG abnormality
4572	MT-TQ	HP:0100704	Cerebral visual impairment
4572	MT-TQ	HP:0003546	Exercise intolerance
4572	MT-TQ	HP:0008316	Abnormal mitochondria in muscle tissue
4572	MT-TQ	HP:0007067	Distal peripheral sensory neuropathy
4572	MT-TQ	HP:0002381	Aphasia
4572	MT-TQ	HP:0001045	Vitiligo
4572	MT-TQ	HP:0001012	Multiple lipomas
4572	MT-TQ	HP:0002353	EEG abnormality
4572	MT-TQ	HP:0002354	Memory impairment
4572	MT-TQ	HP:0002331	Recurrent paroxysmal headache
4572	MT-TQ	HP:0100651	Type I diabetes mellitus
4572	MT-TQ	HP:0009830	Peripheral neuropathy
4572	MT-TQ	HP:0010794	Impaired visuospatial constructive cognition
4572	MT-TQ	HP:0007159	Fluctuations in consciousness
4572	MT-TQ	HP:0010783	Erythema
4572	MT-TQ	HP:0007141	Sensorimotor neuropathy
4572	MT-TQ	HP:0000648	Optic atrophy
4572	MT-TQ	HP:0001945	Fever
4572	MT-TQ	HP:0000602	Ophthalmoplegia
4572	MT-TQ	HP:0001903	Anemia
4572	MT-TQ	HP:0004322	Short stature
4572	MT-TQ	HP:0004389	Intestinal pseudo-obstruction
4572	MT-TQ	HP:0004372	Reduced consciousness/confusion
4572	MT-TQ	HP:0000751	Personality changes
4572	MT-TQ	HP:0100022	Abnormality of movement
4572	MT-TQ	HP:0100027	Recurrent pancreatitis
4572	MT-TQ	HP:0000739	Anxiety
4572	MT-TQ	HP:0000736	Short attention span
4572	MT-TQ	HP:0012707	Elevated brain lactate level by MRS
4572	MT-TQ	HP:0000716	Depression
4572	MT-TQ	HP:0000726	Dementia
4572	MT-TQ	HP:0000709	Psychosis
4572	MT-TQ	HP:0012766	Widened cerebral subarachnoid space
4572	MT-TQ	HP:0011442	Abnormal central motor function
4572	MT-TQ	HP:0003198	Myopathy
4572	MT-TQ	HP:0003128	Lactic acidosis
4572	MT-TQ	HP:0000819	Diabetes mellitus
4572	MT-TQ	HP:0000829	Hypoparathyroidism
4572	MT-TQ	HP:0000822	Hypertension
4572	MT-TQ	HP:0000821	Hypothyroidism
4572	MT-TQ	HP:0003200	Ragged-red muscle fibers
4572	MT-TQ	HP:0000998	Hypertrichosis
4572	MT-TQ	HP:0011675	Arrhythmia
4572	MT-TQ	HP:0001508	Failure to thrive
4572	MT-TQ	HP:0001507	Growth abnormality
4572	MT-TQ	HP:0012377	Hemianopia
4572	MT-TQ	HP:0002922	Increased CSF protein concentration
4572	MT-TQ	HP:0005157	Concentric hypertrophic cardiomyopathy
4572	MT-TQ	HP:0005162	Abnormal left ventricular function
4572	MT-TQ	HP:0001644	Dilated cardiomyopathy
4572	MT-TQ	HP:0001639	Hypertrophic cardiomyopathy
4572	MT-TQ	HP:0001635	Congestive heart failure
4572	MT-TQ	HP:0001638	Cardiomyopathy
4572	MT-TQ	HP:0000408	Progressive sensorineural hearing impairment
4572	MT-TQ	HP:0000407	Sensorineural hearing impairment
4572	MT-TQ	HP:0001716	Wolff-Parkinson-White syndrome
4572	MT-TQ	HP:0001712	Left ventricular hypertrophy
4572	MT-TQ	HP:0031546	Cardiac conduction abnormality
4572	MT-TQ	HP:0012444	Brain atrophy
4572	MT-TQ	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4572	MT-TQ	HP:0000519	Developmental cataract
4572	MT-TQ	HP:0000580	Pigmentary retinopathy
4572	MT-TQ	HP:0000590	Progressive external ophthalmoplegia
4572	MT-TQ	HP:0000572	Visual loss
4574	MT-TS1	HP:0002490	Increased CSF lactate
4574	MT-TS1	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4574	MT-TS1	HP:0007302	Bipolar affective disorder
4574	MT-TS1	HP:0008619	Bilateral sensorineural hearing impairment
4574	MT-TS1	HP:0003737	Mitochondrial myopathy
4574	MT-TS1	HP:0002401	Stroke-like episode
4574	MT-TS1	HP:0001298	Encephalopathy
4574	MT-TS1	HP:0025268	Stuttering
4574	MT-TS1	HP:0001290	Generalized hypotonia
4574	MT-TS1	HP:0001274	Agenesis of corpus callosum
4574	MT-TS1	HP:0001270	Motor delay
4574	MT-TS1	HP:0001269	Hemiparesis
4574	MT-TS1	HP:0001288	Gait disturbance
4574	MT-TS1	HP:0001256	Intellectual disability, mild
4574	MT-TS1	HP:0001250	Seizure
4574	MT-TS1	HP:0001252	Hypotonia
4574	MT-TS1	HP:0001251	Ataxia
4574	MT-TS1	HP:0002579	Gastrointestinal dysmotility
4574	MT-TS1	HP:0001249	Intellectual disability
4574	MT-TS1	HP:0001263	Global developmental delay
4574	MT-TS1	HP:0002572	Episodic vomiting
4574	MT-TS1	HP:0007359	Focal-onset seizure
4574	MT-TS1	HP:0003828	Variable expressivity
4574	MT-TS1	HP:0003800	Muscle abnormality related to mitochondrial dysfunction
4574	MT-TS1	HP:0003819	Death in childhood
4574	MT-TS1	HP:0000097	Focal segmental glomerulosclerosis
4574	MT-TS1	HP:0000093	Proteinuria
4574	MT-TS1	HP:0000044	Hypogonadotropic hypogonadism
4574	MT-TS1	HP:0001345	Psychotic mentation
4574	MT-TS1	HP:0001348	Brisk reflexes
4574	MT-TS1	HP:0001328	Specific learning disability
4574	MT-TS1	HP:0001324	Muscle weakness
4574	MT-TS1	HP:0000007	Autosomal recessive inheritance
4574	MT-TS1	HP:0001336	Myoclonus
4574	MT-TS1	HP:0000114	Proximal tubulopathy
4574	MT-TS1	HP:0000124	Renal tubular dysfunction
4574	MT-TS1	HP:0001427	Mitochondrial inheritance
4574	MT-TS1	HP:0000112	Nephropathy
4574	MT-TS1	HP:0001410	Decreased liver function
4574	MT-TS1	HP:0002747	Respiratory insufficiency due to muscle weakness
4574	MT-TS1	HP:0003355	Aminoaciduria
4574	MT-TS1	HP:0002019	Constipation
4574	MT-TS1	HP:0003327	Axial muscle weakness
4574	MT-TS1	HP:0002014	Diarrhea
4574	MT-TS1	HP:0002013	Vomiting
4574	MT-TS1	HP:0005978	Type II diabetes mellitus
4574	MT-TS1	HP:0100543	Cognitive impairment
4574	MT-TS1	HP:0002098	Respiratory distress
4574	MT-TS1	HP:0002092	Pulmonary arterial hypertension
4574	MT-TS1	HP:0002091	Restrictive ventilatory defect
4574	MT-TS1	HP:0002069	Bilateral tonic-clonic seizure
4574	MT-TS1	HP:0002078	Truncal ataxia
4574	MT-TS1	HP:0002079	Hypoplasia of the corpus callosum
4574	MT-TS1	HP:0002076	Migraine
4574	MT-TS1	HP:0008180	Mildly elevated creatine kinase
4574	MT-TS1	HP:0003477	Peripheral axonal neuropathy
4574	MT-TS1	HP:0002151	Increased serum lactate
4574	MT-TS1	HP:0002123	Generalized myoclonic seizure
4574	MT-TS1	HP:0002120	Cerebral cortical atrophy
4574	MT-TS1	HP:0002135	Basal ganglia calcification
4574	MT-TS1	HP:0003457	EMG abnormality
4574	MT-TS1	HP:0003593	Infantile onset
4574	MT-TS1	HP:0002240	Hepatomegaly
4574	MT-TS1	HP:0100704	Cerebral visual impairment
4574	MT-TS1	HP:0003546	Exercise intolerance
4574	MT-TS1	HP:0011975	Aminoglycoside-induced hearing loss
4574	MT-TS1	HP:0008316	Abnormal mitochondria in muscle tissue
4574	MT-TS1	HP:0007067	Distal peripheral sensory neuropathy
4574	MT-TS1	HP:0002381	Aphasia
4574	MT-TS1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
4574	MT-TS1	HP:0001045	Vitiligo
4574	MT-TS1	HP:0002376	Developmental regression
4574	MT-TS1	HP:0001012	Multiple lipomas
4574	MT-TS1	HP:0002353	EEG abnormality
4574	MT-TS1	HP:0002354	Memory impairment
4574	MT-TS1	HP:0002352	Leukoencephalopathy
4574	MT-TS1	HP:0002331	Recurrent paroxysmal headache
4574	MT-TS1	HP:0100651	Type I diabetes mellitus
4574	MT-TS1	HP:0009830	Peripheral neuropathy
4574	MT-TS1	HP:0010794	Impaired visuospatial constructive cognition
4574	MT-TS1	HP:0007159	Fluctuations in consciousness
4574	MT-TS1	HP:0010783	Erythema
4574	MT-TS1	HP:0007141	Sensorimotor neuropathy
4574	MT-TS1	HP:0009073	Progressive proximal muscle weakness
4574	MT-TS1	HP:0000651	Diplopia
4574	MT-TS1	HP:0000648	Optic atrophy
4574	MT-TS1	HP:0001945	Fever
4574	MT-TS1	HP:0000602	Ophthalmoplegia
4574	MT-TS1	HP:0001903	Anemia
4574	MT-TS1	HP:0001994	Renal Fanconi syndrome
4574	MT-TS1	HP:0004322	Short stature
4574	MT-TS1	HP:0003076	Glycosuria
4574	MT-TS1	HP:0004389	Intestinal pseudo-obstruction
4574	MT-TS1	HP:0004372	Reduced consciousness/confusion
4574	MT-TS1	HP:0000751	Personality changes
4574	MT-TS1	HP:0100022	Abnormality of movement
4574	MT-TS1	HP:0100027	Recurrent pancreatitis
4574	MT-TS1	HP:0000739	Anxiety
4574	MT-TS1	HP:0000736	Short attention span
4574	MT-TS1	HP:0012707	Elevated brain lactate level by MRS
4574	MT-TS1	HP:0000716	Depression
4574	MT-TS1	HP:0000726	Dementia
4574	MT-TS1	HP:0000709	Psychosis
4574	MT-TS1	HP:0012766	Widened cerebral subarachnoid space
4574	MT-TS1	HP:0011442	Abnormal central motor function
4574	MT-TS1	HP:0003109	Hyperphosphaturia
4574	MT-TS1	HP:0003198	Myopathy
4574	MT-TS1	HP:0003128	Lactic acidosis
4574	MT-TS1	HP:0000819	Diabetes mellitus
4574	MT-TS1	HP:0000829	Hypoparathyroidism
4574	MT-TS1	HP:0000822	Hypertension
4574	MT-TS1	HP:0000821	Hypothyroidism
4574	MT-TS1	HP:0003200	Ragged-red muscle fibers
4574	MT-TS1	HP:0000998	Hypertrichosis
4574	MT-TS1	HP:0000982	Palmoplantar keratoderma
4574	MT-TS1	HP:0000962	Hyperkeratosis
4574	MT-TS1	HP:0011675	Arrhythmia
4574	MT-TS1	HP:0012240	Increased intramyocellular lipid droplets
4574	MT-TS1	HP:0002878	Respiratory failure
4574	MT-TS1	HP:0000218	High palate
4574	MT-TS1	HP:0002875	Exertional dyspnea
4574	MT-TS1	HP:0001508	Failure to thrive
4574	MT-TS1	HP:0001507	Growth abnormality
4574	MT-TS1	HP:0012377	Hemianopia
4574	MT-TS1	HP:0006565	Increased hepatocellular lipid droplets
4574	MT-TS1	HP:0002922	Increased CSF protein concentration
4574	MT-TS1	HP:0005157	Concentric hypertrophic cardiomyopathy
4574	MT-TS1	HP:0005162	Abnormal left ventricular function
4574	MT-TS1	HP:0001644	Dilated cardiomyopathy
4574	MT-TS1	HP:0001639	Hypertrophic cardiomyopathy
4574	MT-TS1	HP:0001635	Congestive heart failure
4574	MT-TS1	HP:0001638	Cardiomyopathy
4574	MT-TS1	HP:0030319	Weakness of facial musculature
4574	MT-TS1	HP:0000408	Progressive sensorineural hearing impairment
4574	MT-TS1	HP:0000407	Sensorineural hearing impairment
4574	MT-TS1	HP:0001716	Wolff-Parkinson-White syndrome
4574	MT-TS1	HP:0001712	Left ventricular hypertrophy
4574	MT-TS1	HP:0031546	Cardiac conduction abnormality
4574	MT-TS1	HP:0012444	Brain atrophy
4574	MT-TS1	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4574	MT-TS1	HP:0000519	Developmental cataract
4574	MT-TS1	HP:0000508	Ptosis
4574	MT-TS1	HP:0000597	Ophthalmoparesis
4574	MT-TS1	HP:0000580	Pigmentary retinopathy
4574	MT-TS1	HP:0000590	Progressive external ophthalmoplegia
4574	MT-TS1	HP:0000572	Visual loss
4575	MT-TS2	HP:0002490	Increased CSF lactate
4575	MT-TS2	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4575	MT-TS2	HP:0007302	Bipolar affective disorder
4575	MT-TS2	HP:0008619	Bilateral sensorineural hearing impairment
4575	MT-TS2	HP:0003737	Mitochondrial myopathy
4575	MT-TS2	HP:0002401	Stroke-like episode
4575	MT-TS2	HP:0001298	Encephalopathy
4575	MT-TS2	HP:0025268	Stuttering
4575	MT-TS2	HP:0001274	Agenesis of corpus callosum
4575	MT-TS2	HP:0001270	Motor delay
4575	MT-TS2	HP:0001269	Hemiparesis
4575	MT-TS2	HP:0001288	Gait disturbance
4575	MT-TS2	HP:0001250	Seizure
4575	MT-TS2	HP:0001251	Ataxia
4575	MT-TS2	HP:0002579	Gastrointestinal dysmotility
4575	MT-TS2	HP:0001263	Global developmental delay
4575	MT-TS2	HP:0002572	Episodic vomiting
4575	MT-TS2	HP:0007359	Focal-onset seizure
4575	MT-TS2	HP:0003828	Variable expressivity
4575	MT-TS2	HP:0000097	Focal segmental glomerulosclerosis
4575	MT-TS2	HP:0000093	Proteinuria
4575	MT-TS2	HP:0000044	Hypogonadotropic hypogonadism
4575	MT-TS2	HP:0001345	Psychotic mentation
4575	MT-TS2	HP:0001328	Specific learning disability
4575	MT-TS2	HP:0001324	Muscle weakness
4575	MT-TS2	HP:0001336	Myoclonus
4575	MT-TS2	HP:0000114	Proximal tubulopathy
4575	MT-TS2	HP:0001427	Mitochondrial inheritance
4575	MT-TS2	HP:0000112	Nephropathy
4575	MT-TS2	HP:0002019	Constipation
4575	MT-TS2	HP:0002014	Diarrhea
4575	MT-TS2	HP:0002013	Vomiting
4575	MT-TS2	HP:0005978	Type II diabetes mellitus
4575	MT-TS2	HP:0100543	Cognitive impairment
4575	MT-TS2	HP:0002092	Pulmonary arterial hypertension
4575	MT-TS2	HP:0002069	Bilateral tonic-clonic seizure
4575	MT-TS2	HP:0002079	Hypoplasia of the corpus callosum
4575	MT-TS2	HP:0002076	Migraine
4575	MT-TS2	HP:0003477	Peripheral axonal neuropathy
4575	MT-TS2	HP:0002151	Increased serum lactate
4575	MT-TS2	HP:0002123	Generalized myoclonic seizure
4575	MT-TS2	HP:0002120	Cerebral cortical atrophy
4575	MT-TS2	HP:0002135	Basal ganglia calcification
4575	MT-TS2	HP:0003457	EMG abnormality
4575	MT-TS2	HP:0100704	Cerebral visual impairment
4575	MT-TS2	HP:0003546	Exercise intolerance
4575	MT-TS2	HP:0100753	Schizophrenia
4575	MT-TS2	HP:0008316	Abnormal mitochondria in muscle tissue
4575	MT-TS2	HP:0007067	Distal peripheral sensory neuropathy
4575	MT-TS2	HP:0002381	Aphasia
4575	MT-TS2	HP:0001045	Vitiligo
4575	MT-TS2	HP:0001012	Multiple lipomas
4575	MT-TS2	HP:0002353	EEG abnormality
4575	MT-TS2	HP:0002354	Memory impairment
4575	MT-TS2	HP:0002331	Recurrent paroxysmal headache
4575	MT-TS2	HP:0100651	Type I diabetes mellitus
4575	MT-TS2	HP:0009830	Peripheral neuropathy
4575	MT-TS2	HP:0008499	High hypermetropia
4575	MT-TS2	HP:0010794	Impaired visuospatial constructive cognition
4575	MT-TS2	HP:0007159	Fluctuations in consciousness
4575	MT-TS2	HP:0010783	Erythema
4575	MT-TS2	HP:0007141	Sensorimotor neuropathy
4575	MT-TS2	HP:0000648	Optic atrophy
4575	MT-TS2	HP:0001945	Fever
4575	MT-TS2	HP:0000602	Ophthalmoplegia
4575	MT-TS2	HP:0001903	Anemia
4575	MT-TS2	HP:0000662	Nyctalopia
4575	MT-TS2	HP:0004322	Short stature
4575	MT-TS2	HP:0004389	Intestinal pseudo-obstruction
4575	MT-TS2	HP:0004372	Reduced consciousness/confusion
4575	MT-TS2	HP:0000751	Personality changes
4575	MT-TS2	HP:0100022	Abnormality of movement
4575	MT-TS2	HP:0100027	Recurrent pancreatitis
4575	MT-TS2	HP:0000738	Hallucinations
4575	MT-TS2	HP:0000739	Anxiety
4575	MT-TS2	HP:0000736	Short attention span
4575	MT-TS2	HP:0012707	Elevated brain lactate level by MRS
4575	MT-TS2	HP:0000716	Depression
4575	MT-TS2	HP:0000726	Dementia
4575	MT-TS2	HP:0000709	Psychosis
4575	MT-TS2	HP:0012766	Widened cerebral subarachnoid space
4575	MT-TS2	HP:0011442	Abnormal central motor function
4575	MT-TS2	HP:0003198	Myopathy
4575	MT-TS2	HP:0003128	Lactic acidosis
4575	MT-TS2	HP:0000819	Diabetes mellitus
4575	MT-TS2	HP:0000829	Hypoparathyroidism
4575	MT-TS2	HP:0000822	Hypertension
4575	MT-TS2	HP:0000821	Hypothyroidism
4575	MT-TS2	HP:0003200	Ragged-red muscle fibers
4575	MT-TS2	HP:0000998	Hypertrichosis
4575	MT-TS2	HP:0011675	Arrhythmia
4575	MT-TS2	HP:0007730	Iris hypopigmentation
4575	MT-TS2	HP:0001508	Failure to thrive
4575	MT-TS2	HP:0001507	Growth abnormality
4575	MT-TS2	HP:0012377	Hemianopia
4575	MT-TS2	HP:0002922	Increased CSF protein concentration
4575	MT-TS2	HP:0005157	Concentric hypertrophic cardiomyopathy
4575	MT-TS2	HP:0005162	Abnormal left ventricular function
4575	MT-TS2	HP:0000375	Abnormal cochlea morphology
4575	MT-TS2	HP:0001644	Dilated cardiomyopathy
4575	MT-TS2	HP:0001639	Hypertrophic cardiomyopathy
4575	MT-TS2	HP:0001635	Congestive heart failure
4575	MT-TS2	HP:0001638	Cardiomyopathy
4575	MT-TS2	HP:0000408	Progressive sensorineural hearing impairment
4575	MT-TS2	HP:0000407	Sensorineural hearing impairment
4575	MT-TS2	HP:0001716	Wolff-Parkinson-White syndrome
4575	MT-TS2	HP:0001712	Left ventricular hypertrophy
4575	MT-TS2	HP:0000483	Astigmatism
4575	MT-TS2	HP:0031546	Cardiac conduction abnormality
4575	MT-TS2	HP:0012444	Brain atrophy
4575	MT-TS2	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4575	MT-TS2	HP:0001756	Vestibular hypofunction
4575	MT-TS2	HP:0000518	Cataract
4575	MT-TS2	HP:0000519	Developmental cataract
4575	MT-TS2	HP:0000512	Abnormal electroretinogram
4575	MT-TS2	HP:0000580	Pigmentary retinopathy
4575	MT-TS2	HP:0000575	Scotoma
4575	MT-TS2	HP:0000590	Progressive external ophthalmoplegia
4575	MT-TS2	HP:0000572	Visual loss
4576	MT-TT	HP:0007311	Short stepped shuffling gait
4576	MT-TT	HP:0003745	Sporadic
4576	MT-TT	HP:0001284	Areflexia
4576	MT-TT	HP:0001254	Lethargy
4576	MT-TT	HP:0001250	Seizure
4576	MT-TT	HP:0001260	Dysarthria
4576	MT-TT	HP:0002529	Neuronal loss in central nervous system
4576	MT-TT	HP:0000083	Renal insufficiency
4576	MT-TT	HP:0001332	Dystonia
4576	MT-TT	HP:0000012	Urinary urgency
4576	MT-TT	HP:0001337	Tremor
4576	MT-TT	HP:0000006	Autosomal dominant inheritance
4576	MT-TT	HP:0002643	Neonatal respiratory distress
4576	MT-TT	HP:0001300	Parkinsonism
4576	MT-TT	HP:0008935	Generalized neonatal hypotonia
4576	MT-TT	HP:0001427	Mitochondrial inheritance
4576	MT-TT	HP:0002019	Constipation
4576	MT-TT	HP:0002015	Dysphagia
4576	MT-TT	HP:0002067	Bradykinesia
4576	MT-TT	HP:0002063	Rigidity
4576	MT-TT	HP:0002172	Postural instability
4576	MT-TT	HP:0003587	Insidious onset
4576	MT-TT	HP:0003584	Late onset
4576	MT-TT	HP:0003581	Adult onset
4576	MT-TT	HP:0011960	Substantia nigra gliosis
4576	MT-TT	HP:0002360	Sleep disturbance
4576	MT-TT	HP:0003676	Progressive
4576	MT-TT	HP:0002322	Resting tremor
4576	MT-TT	HP:0004900	Severe lactic acidosis
4576	MT-TT	HP:0009069	Lethal infantile mitochondrial myopathy
4576	MT-TT	HP:0011344	Severe global developmental delay
4576	MT-TT	HP:0031908	Micrographia
4576	MT-TT	HP:0000751	Personality changes
4576	MT-TT	HP:0000738	Hallucinations
4576	MT-TT	HP:0000716	Depression
4576	MT-TT	HP:0000726	Dementia
4576	MT-TT	HP:0003198	Myopathy
4576	MT-TT	HP:0100315	Lewy bodies
4576	MT-TT	HP:0003128	Lactic acidosis
4576	MT-TT	HP:0000298	Mask-like facies
4576	MT-TT	HP:0006583	Fatal liver failure in infancy
4576	MT-TT	HP:0012332	Abnormal autonomic nervous system physiology
4576	MT-TT	HP:0001621	Weak voice
4576	MT-TT	HP:0001638	Cardiomyopathy
4576	MT-TT	HP:0000590	Progressive external ophthalmoplegia
4577	MT-TV	HP:0002483	Bulbar signs
4577	MT-TV	HP:0002490	Increased CSF lactate
4577	MT-TV	HP:0008619	Bilateral sensorineural hearing impairment
4577	MT-TV	HP:0003737	Mitochondrial myopathy
4577	MT-TV	HP:0002401	Stroke-like episode
4577	MT-TV	HP:0001298	Encephalopathy
4577	MT-TV	HP:0001276	Hypertonia
4577	MT-TV	HP:0001269	Hemiparesis
4577	MT-TV	HP:0001250	Seizure
4577	MT-TV	HP:0001251	Ataxia
4577	MT-TV	HP:0001265	Hyporeflexia
4577	MT-TV	HP:0001257	Spasticity
4577	MT-TV	HP:0002572	Episodic vomiting
4577	MT-TV	HP:0003828	Variable expressivity
4577	MT-TV	HP:0000091	Abnormal renal tubule morphology
4577	MT-TV	HP:0001399	Hepatic failure
4577	MT-TV	HP:0001347	Hyperreflexia
4577	MT-TV	HP:0001332	Dystonia
4577	MT-TV	HP:0001324	Muscle weakness
4577	MT-TV	HP:0008947	Infantile muscular hypotonia
4577	MT-TV	HP:0001427	Mitochondrial inheritance
4577	MT-TV	HP:0003348	Hyperalaninemia
4577	MT-TV	HP:0002015	Dysphagia
4577	MT-TV	HP:0002094	Dyspnea
4577	MT-TV	HP:0002069	Bilateral tonic-clonic seizure
4577	MT-TV	HP:0002066	Gait ataxia
4577	MT-TV	HP:0002076	Migraine
4577	MT-TV	HP:0002072	Chorea
4577	MT-TV	HP:0002045	Hypothermia
4577	MT-TV	HP:0002151	Increased serum lactate
4577	MT-TV	HP:0003481	Segmental peripheral demyelination/remyelination
4577	MT-TV	HP:0002123	Generalized myoclonic seizure
4577	MT-TV	HP:0002104	Apnea
4577	MT-TV	HP:0003572	Low plasma citrulline
4577	MT-TV	HP:0002240	Hepatomegaly
4577	MT-TV	HP:0100704	Cerebral visual impairment
4577	MT-TV	HP:0004885	Episodic respiratory distress
4577	MT-TV	HP:0002376	Developmental regression
4577	MT-TV	HP:0003648	Lacticaciduria
4577	MT-TV	HP:0100660	Dyskinesia
4577	MT-TV	HP:0100611	Multiple glomerular cysts
4577	MT-TV	HP:0007141	Sensorimotor neuropathy
4577	MT-TV	HP:0007108	Demyelinating peripheral neuropathy
4577	MT-TV	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4577	MT-TV	HP:0000639	Nystagmus
4577	MT-TV	HP:0000648	Optic atrophy
4577	MT-TV	HP:0001945	Fever
4577	MT-TV	HP:0000602	Ophthalmoplegia
4577	MT-TV	HP:0011344	Severe global developmental delay
4577	MT-TV	HP:0000726	Dementia
4577	MT-TV	HP:0003198	Myopathy
4577	MT-TV	HP:0003128	Lactic acidosis
4577	MT-TV	HP:0000819	Diabetes mellitus
4577	MT-TV	HP:0000816	Abnormality of Krebs cycle metabolism
4577	MT-TV	HP:0000822	Hypertension
4577	MT-TV	HP:0003200	Ragged-red muscle fibers
4577	MT-TV	HP:0011675	Arrhythmia
4577	MT-TV	HP:0002883	Hyperventilation
4577	MT-TV	HP:0001508	Failure to thrive
4577	MT-TV	HP:0001507	Growth abnormality
4577	MT-TV	HP:0012377	Hemianopia
4577	MT-TV	HP:0005162	Abnormal left ventricular function
4577	MT-TV	HP:0031434	Abnormal prosody
4577	MT-TV	HP:0001644	Dilated cardiomyopathy
4577	MT-TV	HP:0001639	Hypertrophic cardiomyopathy
4577	MT-TV	HP:0001635	Congestive heart failure
4577	MT-TV	HP:0000408	Progressive sensorineural hearing impairment
4577	MT-TV	HP:0000407	Sensorineural hearing impairment
4577	MT-TV	HP:0001716	Wolff-Parkinson-White syndrome
4577	MT-TV	HP:0001712	Left ventricular hypertrophy
4577	MT-TV	HP:0031546	Cardiac conduction abnormality
4577	MT-TV	HP:0012469	Infantile spasms
4577	MT-TV	HP:0000519	Developmental cataract
4577	MT-TV	HP:0000510	Rod-cone dystrophy
4577	MT-TV	HP:0000597	Ophthalmoparesis
4577	MT-TV	HP:0000580	Pigmentary retinopathy
4578	MT-TW	HP:0002483	Bulbar signs
4578	MT-TW	HP:0002490	Increased CSF lactate
4578	MT-TW	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4578	MT-TW	HP:0007302	Bipolar affective disorder
4578	MT-TW	HP:0008619	Bilateral sensorineural hearing impairment
4578	MT-TW	HP:0003737	Mitochondrial myopathy
4578	MT-TW	HP:0002401	Stroke-like episode
4578	MT-TW	HP:0001298	Encephalopathy
4578	MT-TW	HP:0025268	Stuttering
4578	MT-TW	HP:0001276	Hypertonia
4578	MT-TW	HP:0001274	Agenesis of corpus callosum
4578	MT-TW	HP:0001270	Motor delay
4578	MT-TW	HP:0001269	Hemiparesis
4578	MT-TW	HP:0001288	Gait disturbance
4578	MT-TW	HP:0001250	Seizure
4578	MT-TW	HP:0001251	Ataxia
4578	MT-TW	HP:0002579	Gastrointestinal dysmotility
4578	MT-TW	HP:0001265	Hyporeflexia
4578	MT-TW	HP:0001263	Global developmental delay
4578	MT-TW	HP:0001257	Spasticity
4578	MT-TW	HP:0002572	Episodic vomiting
4578	MT-TW	HP:0007359	Focal-onset seizure
4578	MT-TW	HP:0003828	Variable expressivity
4578	MT-TW	HP:0000097	Focal segmental glomerulosclerosis
4578	MT-TW	HP:0000091	Abnormal renal tubule morphology
4578	MT-TW	HP:0000093	Proteinuria
4578	MT-TW	HP:0001399	Hepatic failure
4578	MT-TW	HP:0000044	Hypogonadotropic hypogonadism
4578	MT-TW	HP:0001345	Psychotic mentation
4578	MT-TW	HP:0001347	Hyperreflexia
4578	MT-TW	HP:0001332	Dystonia
4578	MT-TW	HP:0001328	Specific learning disability
4578	MT-TW	HP:0001324	Muscle weakness
4578	MT-TW	HP:0001336	Myoclonus
4578	MT-TW	HP:0008947	Infantile muscular hypotonia
4578	MT-TW	HP:0000114	Proximal tubulopathy
4578	MT-TW	HP:0001427	Mitochondrial inheritance
4578	MT-TW	HP:0000112	Nephropathy
4578	MT-TW	HP:0002019	Constipation
4578	MT-TW	HP:0003348	Hyperalaninemia
4578	MT-TW	HP:0002014	Diarrhea
4578	MT-TW	HP:0002015	Dysphagia
4578	MT-TW	HP:0002013	Vomiting
4578	MT-TW	HP:0005978	Type II diabetes mellitus
4578	MT-TW	HP:0002094	Dyspnea
4578	MT-TW	HP:0002092	Pulmonary arterial hypertension
4578	MT-TW	HP:0002069	Bilateral tonic-clonic seizure
4578	MT-TW	HP:0002066	Gait ataxia
4578	MT-TW	HP:0002079	Hypoplasia of the corpus callosum
4578	MT-TW	HP:0002076	Migraine
4578	MT-TW	HP:0002072	Chorea
4578	MT-TW	HP:0002045	Hypothermia
4578	MT-TW	HP:0003477	Peripheral axonal neuropathy
4578	MT-TW	HP:0002151	Increased serum lactate
4578	MT-TW	HP:0003481	Segmental peripheral demyelination/remyelination
4578	MT-TW	HP:0002123	Generalized myoclonic seizure
4578	MT-TW	HP:0002120	Cerebral cortical atrophy
4578	MT-TW	HP:0002135	Basal ganglia calcification
4578	MT-TW	HP:0002104	Apnea
4578	MT-TW	HP:0003572	Low plasma citrulline
4578	MT-TW	HP:0002240	Hepatomegaly
4578	MT-TW	HP:0100704	Cerebral visual impairment
4578	MT-TW	HP:0004885	Episodic respiratory distress
4578	MT-TW	HP:0003546	Exercise intolerance
4578	MT-TW	HP:0008316	Abnormal mitochondria in muscle tissue
4578	MT-TW	HP:0007067	Distal peripheral sensory neuropathy
4578	MT-TW	HP:0002381	Aphasia
4578	MT-TW	HP:0001045	Vitiligo
4578	MT-TW	HP:0002376	Developmental regression
4578	MT-TW	HP:0002353	EEG abnormality
4578	MT-TW	HP:0002354	Memory impairment
4578	MT-TW	HP:0003648	Lacticaciduria
4578	MT-TW	HP:0002331	Recurrent paroxysmal headache
4578	MT-TW	HP:0100651	Type I diabetes mellitus
4578	MT-TW	HP:0100660	Dyskinesia
4578	MT-TW	HP:0009830	Peripheral neuropathy
4578	MT-TW	HP:0100611	Multiple glomerular cysts
4578	MT-TW	HP:0010794	Impaired visuospatial constructive cognition
4578	MT-TW	HP:0007159	Fluctuations in consciousness
4578	MT-TW	HP:0010783	Erythema
4578	MT-TW	HP:0007141	Sensorimotor neuropathy
4578	MT-TW	HP:0007108	Demyelinating peripheral neuropathy
4578	MT-TW	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4578	MT-TW	HP:0000639	Nystagmus
4578	MT-TW	HP:0000648	Optic atrophy
4578	MT-TW	HP:0001945	Fever
4578	MT-TW	HP:0000602	Ophthalmoplegia
4578	MT-TW	HP:0001903	Anemia
4578	MT-TW	HP:0011344	Severe global developmental delay
4578	MT-TW	HP:0004322	Short stature
4578	MT-TW	HP:0004389	Intestinal pseudo-obstruction
4578	MT-TW	HP:0004372	Reduced consciousness/confusion
4578	MT-TW	HP:0000751	Personality changes
4578	MT-TW	HP:0100027	Recurrent pancreatitis
4578	MT-TW	HP:0000739	Anxiety
4578	MT-TW	HP:0000736	Short attention span
4578	MT-TW	HP:0012707	Elevated brain lactate level by MRS
4578	MT-TW	HP:0000716	Depression
4578	MT-TW	HP:0000726	Dementia
4578	MT-TW	HP:0000709	Psychosis
4578	MT-TW	HP:0012766	Widened cerebral subarachnoid space
4578	MT-TW	HP:0011442	Abnormal central motor function
4578	MT-TW	HP:0003198	Myopathy
4578	MT-TW	HP:0003128	Lactic acidosis
4578	MT-TW	HP:0000819	Diabetes mellitus
4578	MT-TW	HP:0000816	Abnormality of Krebs cycle metabolism
4578	MT-TW	HP:0000829	Hypoparathyroidism
4578	MT-TW	HP:0000822	Hypertension
4578	MT-TW	HP:0000821	Hypothyroidism
4578	MT-TW	HP:0003200	Ragged-red muscle fibers
4578	MT-TW	HP:0000998	Hypertrichosis
4578	MT-TW	HP:0011675	Arrhythmia
4578	MT-TW	HP:0002883	Hyperventilation
4578	MT-TW	HP:0001508	Failure to thrive
4578	MT-TW	HP:0001507	Growth abnormality
4578	MT-TW	HP:0012377	Hemianopia
4578	MT-TW	HP:0002922	Increased CSF protein concentration
4578	MT-TW	HP:0005157	Concentric hypertrophic cardiomyopathy
4578	MT-TW	HP:0005162	Abnormal left ventricular function
4578	MT-TW	HP:0031434	Abnormal prosody
4578	MT-TW	HP:0001644	Dilated cardiomyopathy
4578	MT-TW	HP:0001639	Hypertrophic cardiomyopathy
4578	MT-TW	HP:0001635	Congestive heart failure
4578	MT-TW	HP:0001638	Cardiomyopathy
4578	MT-TW	HP:0000408	Progressive sensorineural hearing impairment
4578	MT-TW	HP:0000407	Sensorineural hearing impairment
4578	MT-TW	HP:0001716	Wolff-Parkinson-White syndrome
4578	MT-TW	HP:0001712	Left ventricular hypertrophy
4578	MT-TW	HP:0031546	Cardiac conduction abnormality
4578	MT-TW	HP:0012469	Infantile spasms
4578	MT-TW	HP:0012444	Brain atrophy
4578	MT-TW	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
4578	MT-TW	HP:0000519	Developmental cataract
4578	MT-TW	HP:0000510	Rod-cone dystrophy
4578	MT-TW	HP:0000597	Ophthalmoparesis
4578	MT-TW	HP:0000580	Pigmentary retinopathy
4578	MT-TW	HP:0000590	Progressive external ophthalmoplegia
4578	MT-TW	HP:0000572	Visual loss
4582	MUC1	HP:0003774	Stage 5 chronic kidney disease
4582	MUC1	HP:0000089	Renal hypoplasia
4582	MUC1	HP:0000096	Glomerular sclerosis
4582	MUC1	HP:0000092	Renal tubular atrophy
4582	MUC1	HP:0000006	Autosomal dominant inheritance
4582	MUC1	HP:0002615	Hypotension
4582	MUC1	HP:0000127	Renal salt wasting
4582	MUC1	HP:0000108	Renal corticomedullary cysts
4582	MUC1	HP:0002048	Renal cortical atrophy
4582	MUC1	HP:0002149	Hyperuricemia
4582	MUC1	HP:0002120	Cerebral cortical atrophy
4582	MUC1	HP:0004732	Impaired renal uric acid clearance
4582	MUC1	HP:0003581	Adult onset
4582	MUC1	HP:0005576	Tubulointerstitial fibrosis
4582	MUC1	HP:0005583	Tubular basement membrane disintegration
4582	MUC1	HP:0001970	Tubulointerstitial nephritis
4582	MUC1	HP:0001903	Anemia
4582	MUC1	HP:0001997	Gout
4582	MUC1	HP:0000822	Hypertension
4582	MUC1	HP:0003259	Elevated circulating creatinine concentration
4582	MUC1	HP:0012213	Decreased glomerular filtration rate
4589	MUC7	HP:0000006	Autosomal dominant inheritance
4589	MUC7	HP:0001426	Multifactorial inheritance
4589	MUC7	HP:0002099	Asthma
4589	MUC7	HP:4000007	Bronchoconstriction
4589	MUC7	HP:0032933	Airway hyperresponsiveness
4591	TRIM37	HP:0001131	Corneal dystrophy
4591	TRIM37	HP:0001256	Intellectual disability, mild
4591	TRIM37	HP:0001252	Hypotonia
4591	TRIM37	HP:0001260	Dysarthria
4591	TRIM37	HP:0002680	J-shaped sella turcica
4591	TRIM37	HP:0002688	Absent frontal sinuses
4591	TRIM37	HP:0000007	Autosomal recessive inheritance
4591	TRIM37	HP:0002667	Nephroblastoma
4591	TRIM37	HP:0001315	Reduced tendon reflexes
4591	TRIM37	HP:0000171	Microglossia
4591	TRIM37	HP:0006297	Enamel hypoplasia
4591	TRIM37	HP:0002783	Recurrent lower respiratory tract infections
4591	TRIM37	HP:0002738	Hypoplastic frontal sinuses
4591	TRIM37	HP:0002007	Frontal bossing
4591	TRIM37	HP:0002119	Ventriculomegaly
4591	TRIM37	HP:0003593	Infantile onset
4591	TRIM37	HP:0002240	Hepatomegaly
4591	TRIM37	HP:0001052	Nevus flammeus
4591	TRIM37	HP:0000612	Iris coloboma
4591	TRIM37	HP:0000678	Dental crowding
4591	TRIM37	HP:0000689	Dental malocclusion
4591	TRIM37	HP:0000668	Hypodontia
4591	TRIM37	HP:0004322	Short stature
4591	TRIM37	HP:0004326	Cachexia
4591	TRIM37	HP:0000954	Single transverse palmar crease
4591	TRIM37	HP:0000935	Thickened cortex of long bones
4591	TRIM37	HP:0000256	Macrocephaly
4591	TRIM37	HP:0000268	Dolichocephaly
4591	TRIM37	HP:0005132	Pericardial constriction
4591	TRIM37	HP:0001541	Ascites
4591	TRIM37	HP:0001511	Intrauterine growth retardation
4591	TRIM37	HP:0001510	Growth delay
4591	TRIM37	HP:0001685	Myocardial fibrosis
4591	TRIM37	HP:0000316	Hypertelorism
4591	TRIM37	HP:0000325	Triangular face
4591	TRIM37	HP:0001621	Weak voice
4591	TRIM37	HP:0001620	High pitched voice
4591	TRIM37	HP:0001640	Cardiomegaly
4591	TRIM37	HP:0001635	Congestive heart failure
4591	TRIM37	HP:0005280	Depressed nasal bridge
4591	TRIM37	HP:0000483	Astigmatism
4591	TRIM37	HP:0000486	Strabismus
4591	TRIM37	HP:0001789	Hydrops fetalis
4591	TRIM37	HP:0000445	Wide nose
4591	TRIM37	HP:0000431	Wide nasal bridge
4591	TRIM37	HP:0000580	Pigmentary retinopathy
4593	MUSK	HP:0001196	Short umbilical cord
4593	MUSK	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
4593	MUSK	HP:0010880	Increased nuchal translucency
4593	MUSK	HP:0003722	Neck flexor weakness
4593	MUSK	HP:0003700	Generalized amyotrophy
4593	MUSK	HP:0001252	Hypotonia
4593	MUSK	HP:0001262	Excessive daytime somnolence
4593	MUSK	HP:0001239	Wrist flexion contracture
4593	MUSK	HP:0003826	Stillbirth
4593	MUSK	HP:0003803	Type 1 muscle fiber predominance
4593	MUSK	HP:0000028	Cryptorchidism
4593	MUSK	HP:0410011	Abnormality of masticatory muscle
4593	MUSK	HP:0001331	Absent septum pellucidum
4593	MUSK	HP:0001324	Muscle weakness
4593	MUSK	HP:0000007	Autosomal recessive inheritance
4593	MUSK	HP:0001305	Dandy-Walker malformation
4593	MUSK	HP:0002650	Scoliosis
4593	MUSK	HP:0001321	Cerebellar hypoplasia
4593	MUSK	HP:0001319	Neonatal hypotonia
4593	MUSK	HP:0001315	Reduced tendon reflexes
4593	MUSK	HP:0031108	Triceps weakness
4593	MUSK	HP:0000160	Narrow mouth
4593	MUSK	HP:0000175	Cleft palate
4593	MUSK	HP:0002705	High, narrow palate
4593	MUSK	HP:0006266	Small placenta
4593	MUSK	HP:0001446	Abnormality of the musculature of the upper limbs
4593	MUSK	HP:0002792	Reduced vital capacity
4593	MUSK	HP:0002015	Dysphagia
4593	MUSK	HP:0003324	Generalized muscle weakness
4593	MUSK	HP:0002089	Pulmonary hypoplasia
4593	MUSK	HP:0002093	Respiratory insufficiency
4593	MUSK	HP:0002091	Restrictive ventilatory defect
4593	MUSK	HP:0003391	Gowers sign
4593	MUSK	HP:0003388	Easy fatigability
4593	MUSK	HP:0010489	Absent palmar crease
4593	MUSK	HP:0009487	Ulnar deviation of the hand
4593	MUSK	HP:0003473	Fatigable weakness
4593	MUSK	HP:0003484	Upper limb muscle weakness
4593	MUSK	HP:0003458	EMG: myopathic abnormalities
4593	MUSK	HP:0003443	Decreased size of nerve terminals
4593	MUSK	HP:0003402	Decreased miniature endplate potentials
4593	MUSK	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
4593	MUSK	HP:0002194	Delayed gross motor development
4593	MUSK	HP:0100490	Camptodactyly of finger
4593	MUSK	HP:0003593	Infantile onset
4593	MUSK	HP:0003577	Congenital onset
4593	MUSK	HP:0003547	Shoulder girdle muscle weakness
4593	MUSK	HP:0010628	Facial palsy
4593	MUSK	HP:0002389	Cavum septum pellucidum
4593	MUSK	HP:0001059	Pterygium
4593	MUSK	HP:0002375	Hypokinesia
4593	MUSK	HP:0002329	Drowsiness
4593	MUSK	HP:0003623	Neonatal onset
4593	MUSK	HP:0002304	Akinesia
4593	MUSK	HP:0009077	Weakness of long finger extensor muscles
4593	MUSK	HP:0000651	Diplopia
4593	MUSK	HP:0000602	Ophthalmoplegia
4593	MUSK	HP:0009005	Weakness of the intrinsic hand muscles
4593	MUSK	HP:0001989	Fetal akinesia sequence
4593	MUSK	HP:0005659	Thoracic kyphoscoliosis
4593	MUSK	HP:0003070	Elbow ankylosis
4593	MUSK	HP:0012745	Short palpebral fissure
4593	MUSK	HP:0012764	Orthopnea
4593	MUSK	HP:0003100	Slender long bone
4593	MUSK	HP:0003199	Decreased muscle mass
4593	MUSK	HP:0000883	Thin ribs
4593	MUSK	HP:0003202	Skeletal muscle atrophy
4593	MUSK	HP:0034391	Elbow contracture
4593	MUSK	HP:0003273	Hip contracture
4593	MUSK	HP:0000961	Cyanosis
4593	MUSK	HP:0002828	Multiple joint contractures
4593	MUSK	HP:0002803	Congenital contracture
4593	MUSK	HP:0002804	Arthrogryposis multiplex congenita
4593	MUSK	HP:0000238	Hydrocephalus
4593	MUSK	HP:0002878	Respiratory failure
4593	MUSK	HP:0000218	High palate
4593	MUSK	HP:0002875	Exertional dyspnea
4593	MUSK	HP:0001561	Polyhydramnios
4593	MUSK	HP:0001558	Decreased fetal movement
4593	MUSK	HP:0031374	Ankle weakness
4593	MUSK	HP:0001518	Small for gestational age
4593	MUSK	HP:0001511	Intrauterine growth retardation
4593	MUSK	HP:0005257	Thoracic hypoplasia
4593	MUSK	HP:0005245	Intestinal hypoplasia
4593	MUSK	HP:0030196	Fatigable weakness of respiratory muscles
4593	MUSK	HP:0030199	Fatigable weakness of neck muscles
4593	MUSK	HP:0000358	Posteriorly rotated ears
4593	MUSK	HP:0000369	Low-set ears
4593	MUSK	HP:0000343	Long philtrum
4593	MUSK	HP:0000347	Micrognathia
4593	MUSK	HP:0000316	Hypertelorism
4593	MUSK	HP:0001622	Premature birth
4593	MUSK	HP:0005280	Depressed nasal bridge
4593	MUSK	HP:0000476	Cystic hygroma
4593	MUSK	HP:0000496	Abnormality of eye movement
4593	MUSK	HP:0001790	Nonimmune hydrops fetalis
4593	MUSK	HP:0000470	Short neck
4593	MUSK	HP:0000467	Neck muscle weakness
4593	MUSK	HP:0000437	Depressed nasal tip
4593	MUSK	HP:0001762	Talipes equinovarus
4593	MUSK	HP:0000520	Proptosis
4593	MUSK	HP:0001838	Rocker bottom foot
4593	MUSK	HP:0000506	Telecanthus
4593	MUSK	HP:0000508	Ptosis
4593	MUSK	HP:0000597	Ophthalmoparesis
4593	MUSK	HP:0000581	Blepharophimosis
4593	MUSK	HP:0012515	Hip flexor weakness
4594	MMUT	HP:0003774	Stage 5 chronic kidney disease
4594	MMUT	HP:0002453	Abnormal globus pallidus morphology
4594	MMUT	HP:0001297	Stroke
4594	MMUT	HP:0001290	Generalized hypotonia
4594	MMUT	HP:0100806	Sepsis
4594	MMUT	HP:0001254	Lethargy
4594	MMUT	HP:0001250	Seizure
4594	MMUT	HP:0001252	Hypotonia
4594	MMUT	HP:0001249	Intellectual disability
4594	MMUT	HP:0001266	Choreoathetosis
4594	MMUT	HP:0001260	Dysarthria
4594	MMUT	HP:0001263	Global developmental delay
4594	MMUT	HP:0001259	Coma
4594	MMUT	HP:0000083	Renal insufficiency
4594	MMUT	HP:0001332	Dystonia
4594	MMUT	HP:0000007	Autosomal recessive inheritance
4594	MMUT	HP:0012120	Methylmalonic aciduria
4594	MMUT	HP:0000124	Renal tubular dysfunction
4594	MMUT	HP:0002721	Immunodeficiency
4594	MMUT	HP:0002017	Nausea and vomiting
4594	MMUT	HP:0002027	Abdominal pain
4594	MMUT	HP:0002013	Vomiting
4594	MMUT	HP:0005979	Metabolic ketoacidosis
4594	MMUT	HP:0002098	Respiratory distress
4594	MMUT	HP:0002072	Chorea
4594	MMUT	HP:0002039	Anorexia
4594	MMUT	HP:0002154	Hyperglycinemia
4594	MMUT	HP:0002188	Delayed CNS myelination
4594	MMUT	HP:0002240	Hepatomegaly
4594	MMUT	HP:0011968	Feeding difficulties
4594	MMUT	HP:0003623	Neonatal onset
4594	MMUT	HP:0004911	Episodic metabolic acidosis
4594	MMUT	HP:0001970	Tubulointerstitial nephritis
4594	MMUT	HP:0000648	Optic atrophy
4594	MMUT	HP:0001944	Dehydration
4594	MMUT	HP:0001943	Hypoglycemia
4594	MMUT	HP:0001903	Anemia
4594	MMUT	HP:0001987	Hyperammonemia
4594	MMUT	HP:0004374	Hemiplegia/hemiparesis
4594	MMUT	HP:0100022	Abnormality of movement
4594	MMUT	HP:0040126	Abnormal vitamin B12 level
4594	MMUT	HP:0011695	Cerebellar hemorrhage
4594	MMUT	HP:0001508	Failure to thrive
4594	MMUT	HP:0001510	Growth delay
4594	MMUT	HP:0002912	Methylmalonic acidemia
4594	MMUT	HP:0001638	Cardiomyopathy
4594	MMUT	HP:0001733	Pancreatitis
4594	MMUT	HP:0001744	Splenomegaly
4594	MMUT	HP:0001882	Leukopenia
4594	MMUT	HP:0001873	Thrombocytopenia
4594	MMUT	HP:0001875	Neutropenia
4595	MUTYH	HP:0100896	Rectal polyposis
4595	MUTYH	HP:0000007	Autosomal recessive inheritance
4595	MUTYH	HP:0012126	Stomach cancer
4595	MUTYH	HP:0410067	Increased level of L-fucose in urine
4595	MUTYH	HP:0007649	Congenital hypertrophy of retinal pigment epithelium
4595	MUTYH	HP:0001428	Somatic mutation
4595	MUTYH	HP:0040276	Adenocarcinoma of the colon
4595	MUTYH	HP:0200063	Colorectal polyposis
4595	MUTYH	HP:0003003	Colon cancer
4595	MUTYH	HP:0100245	Desmoid tumors
4595	MUTYH	HP:0005227	Adenomatous colonic polyposis
4595	MUTYH	HP:0030255	Large intestinal polyposis
4597	MVD	HP:0000006	Autosomal dominant inheritance
4597	MVD	HP:0001036	Parakeratosis
4597	MVD	HP:0200044	Porokeratosis
4597	MVD	HP:0000992	Cutaneous photosensitivity
4597	MVD	HP:0000989	Pruritus
4597	MVD	HP:0002860	Squamous cell carcinoma
4598	MVK	HP:0025143	Chills
4598	MVK	HP:0410246	Increased circulating IgD level
4598	MVK	HP:0001290	Generalized hypotonia
4598	MVK	HP:0001272	Cerebellar atrophy
4598	MVK	HP:0002586	Peritonitis
4598	MVK	HP:0001250	Seizure
4598	MVK	HP:0001252	Hypotonia
4598	MVK	HP:0001251	Ataxia
4598	MVK	HP:0001249	Intellectual disability
4598	MVK	HP:0001260	Dysarthria
4598	MVK	HP:0001263	Global developmental delay
4598	MVK	HP:0001376	Limitation of joint mobility
4598	MVK	HP:0001369	Arthritis
4598	MVK	HP:0000007	Autosomal recessive inheritance
4598	MVK	HP:0000006	Autosomal dominant inheritance
4598	MVK	HP:0002633	Vasculitis
4598	MVK	HP:0025435	Increased circulating lactate dehydrogenase concentration
4598	MVK	HP:0000155	Oral ulcer
4598	MVK	HP:0006268	Fluctuating splenomegaly
4598	MVK	HP:0001433	Hepatosplenomegaly
4598	MVK	HP:0002751	Kyphoscoliosis
4598	MVK	HP:0002750	Delayed skeletal maturation
4598	MVK	HP:0002719	Recurrent infections
4598	MVK	HP:0002716	Lymphadenopathy
4598	MVK	HP:0002027	Abdominal pain
4598	MVK	HP:0002028	Chronic diarrhea
4598	MVK	HP:0003326	Myalgia
4598	MVK	HP:0002014	Diarrhea
4598	MVK	HP:0002013	Vomiting
4598	MVK	HP:0002076	Migraine
4598	MVK	HP:0002073	Progressive cerebellar ataxia
4598	MVK	HP:0002059	Cerebral atrophy
4598	MVK	HP:0002120	Cerebral cortical atrophy
4598	MVK	HP:0011897	Neutrophilia
4598	MVK	HP:0003593	Infantile onset
4598	MVK	HP:0002240	Hepatomegaly
4598	MVK	HP:0002239	Gastrointestinal hemorrhage
4598	MVK	HP:0003565	Elevated erythrocyte sedimentation rate
4598	MVK	HP:0008404	Nail dystrophy
4598	MVK	HP:0004819	Normocytic hypoplastic anemia
4598	MVK	HP:0001063	Acrocyanosis
4598	MVK	HP:0001036	Parakeratosis
4598	MVK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
4598	MVK	HP:0002335	Agenesis of cerebellar vermis
4598	MVK	HP:0001025	Urticaria
4598	MVK	HP:0002321	Vertigo
4598	MVK	HP:0002315	Headache
4598	MVK	HP:0200034	Papule
4598	MVK	HP:0200044	Porokeratosis
4598	MVK	HP:0010783	Erythema
4598	MVK	HP:0032163	Molluscum contagiosum
4598	MVK	HP:0003621	Juvenile onset
4598	MVK	HP:0009098	Chronic oral candidiasis
4598	MVK	HP:0000639	Nystagmus
4598	MVK	HP:0001974	Leukocytosis
4598	MVK	HP:0001954	Recurrent fever
4598	MVK	HP:0001903	Anemia
4598	MVK	HP:0000662	Nyctalopia
4598	MVK	HP:0004322	Short stature
4598	MVK	HP:0100018	Nuclear cataract
4598	MVK	HP:0003236	Elevated circulating creatine kinase concentration
4598	MVK	HP:0045073	Serositis
4598	MVK	HP:0003261	Increased circulating IgA level
4598	MVK	HP:0000979	Purpura
4598	MVK	HP:0000992	Cutaneous photosensitivity
4598	MVK	HP:0000989	Pruritus
4598	MVK	HP:0000988	Skin rash
4598	MVK	HP:0000969	Edema
4598	MVK	HP:0000962	Hyperkeratosis
4598	MVK	HP:0008065	Aplasia/Hypoplasia of the skin
4598	MVK	HP:0012282	Morbilliform rash
4598	MVK	HP:0000268	Dolichocephaly
4598	MVK	HP:0002829	Arthralgia
4598	MVK	HP:0032638	Elevated urine mevalonic acid level
4598	MVK	HP:0000239	Large fontanelles
4598	MVK	HP:0000252	Microcephaly
4598	MVK	HP:0001531	Failure to thrive in infancy
4598	MVK	HP:0002860	Squamous cell carcinoma
4598	MVK	HP:0002840	Lymphadenitis
4598	MVK	HP:0001508	Failure to thrive
4598	MVK	HP:0001510	Growth delay
4598	MVK	HP:0007843	Attenuation of retinal blood vessels
4598	MVK	HP:0006564	Fluctuating hepatomegaly
4598	MVK	HP:0005214	Intestinal obstruction
4598	MVK	HP:0002910	Elevated hepatic transaminase
4598	MVK	HP:0000358	Posteriorly rotated ears
4598	MVK	HP:0000369	Low-set ears
4598	MVK	HP:0000368	Low-set, posteriorly rotated ears
4598	MVK	HP:0000325	Triangular face
4598	MVK	HP:0000494	Downslanted palpebral fissures
4598	MVK	HP:0011107	Recurrent aphthous stomatitis
4598	MVK	HP:0001744	Splenomegaly
4598	MVK	HP:0000430	Underdeveloped nasal alae
4598	MVK	HP:0006772	Renal angiomyolipoma
4598	MVK	HP:0000518	Cataract
4598	MVK	HP:0000510	Rod-cone dystrophy
4598	MVK	HP:0000592	Blue sclerae
4598	MVK	HP:0011227	Elevated circulating C-reactive protein concentration
4598	MVK	HP:0000543	Optic disc pallor
4598	MVK	HP:0001873	Thrombocytopenia
4601	MXI1	HP:0000006	Autosomal dominant inheritance
4601	MXI1	HP:0012125	Prostate cancer
4601	MXI1	HP:0001428	Somatic mutation
4604	MYBPC1	HP:0001181	Adducted thumb
4604	MYBPC1	HP:0002460	Distal muscle weakness
4604	MYBPC1	HP:0003701	Proximal muscle weakness
4604	MYBPC1	HP:0001371	Flexion contracture
4604	MYBPC1	HP:0001387	Joint stiffness
4604	MYBPC1	HP:0000007	Autosomal recessive inheritance
4604	MYBPC1	HP:0000006	Autosomal dominant inheritance
4604	MYBPC1	HP:0002650	Scoliosis
4604	MYBPC1	HP:0000160	Narrow mouth
4604	MYBPC1	HP:0003327	Axial muscle weakness
4604	MYBPC1	HP:0003306	Spinal rigidity
4604	MYBPC1	HP:0002093	Respiratory insufficiency
4604	MYBPC1	HP:0009465	Ulnar deviation of finger
4604	MYBPC1	HP:0009473	Joint contracture of the hand
4604	MYBPC1	HP:0003458	EMG: myopathic abnormalities
4604	MYBPC1	HP:0002174	Postural tremor
4604	MYBPC1	HP:0100490	Camptodactyly of finger
4604	MYBPC1	HP:0010557	Overlapping fingers
4604	MYBPC1	HP:0003577	Congenital onset
4604	MYBPC1	HP:0008366	Foot joint contracture
4604	MYBPC1	HP:0003691	Scapular winging
4604	MYBPC1	HP:0031947	Tongue tremor
4604	MYBPC1	HP:0005684	Distal arthrogryposis
4604	MYBPC1	HP:0003202	Skeletal muscle atrophy
4604	MYBPC1	HP:0003272	Abnormal hip bone morphology
4604	MYBPC1	HP:0002828	Multiple joint contractures
4604	MYBPC1	HP:0002804	Arthrogryposis multiplex congenita
4604	MYBPC1	HP:0000218	High palate
4604	MYBPC1	HP:0012385	Camptodactyly
4604	MYBPC1	HP:0002938	Lumbar hyperlordosis
4604	MYBPC1	HP:0000347	Micrognathia
4604	MYBPC1	HP:0005272	Prominent nasolabial fold
4604	MYBPC1	HP:0001762	Talipes equinovarus
4604	MYBPC1	HP:0001838	Rocker bottom foot
4604	MYBPC1	HP:0001883	Talipes
4607	MYBPC3	HP:0001297	Stroke
4607	MYBPC3	HP:0001279	Syncope
4607	MYBPC3	HP:0000007	Autosomal recessive inheritance
4607	MYBPC3	HP:0000006	Autosomal dominant inheritance
4607	MYBPC3	HP:0033755	Increased left ventricular end-diastolic volume
4607	MYBPC3	HP:0002098	Respiratory distress
4607	MYBPC3	HP:0002094	Dyspnea
4607	MYBPC3	HP:0002092	Pulmonary arterial hypertension
4607	MYBPC3	HP:0100578	Lipoatrophy
4607	MYBPC3	HP:0011712	Right bundle branch block
4607	MYBPC3	HP:0011713	Left bundle branch block
4607	MYBPC3	HP:0011705	First degree atrioventricular block
4607	MYBPC3	HP:0100598	Pulmonary edema
4607	MYBPC3	HP:0003457	EMG abnormality
4607	MYBPC3	HP:0002240	Hepatomegaly
4607	MYBPC3	HP:0003584	Late onset
4607	MYBPC3	HP:0003581	Adult onset
4607	MYBPC3	HP:0100749	Chest pain
4607	MYBPC3	HP:0002326	Transient ischemic attack
4607	MYBPC3	HP:0003623	Neonatal onset
4607	MYBPC3	HP:0003621	Juvenile onset
4607	MYBPC3	HP:0012664	Reduced left ventricular ejection fraction
4607	MYBPC3	HP:0030682	Left ventricular noncompaction
4607	MYBPC3	HP:0011462	Young adult onset
4607	MYBPC3	HP:0003198	Myopathy
4607	MYBPC3	HP:0030718	Right atrial enlargement
4607	MYBPC3	HP:0003236	Elevated circulating creatine kinase concentration
4607	MYBPC3	HP:0011623	Muscular ventricular septal defect
4607	MYBPC3	HP:0000982	Palmoplantar keratoderma
4607	MYBPC3	HP:0005144	Ventricular septal hypertrophy
4607	MYBPC3	HP:0031318	Myofiber disarray
4607	MYBPC3	HP:0001541	Ascites
4607	MYBPC3	HP:0001695	Cardiac arrest
4607	MYBPC3	HP:0001698	Pericardial effusion
4607	MYBPC3	HP:0001678	Atrioventricular block
4607	MYBPC3	HP:0001645	Sudden cardiac death
4607	MYBPC3	HP:0001644	Dilated cardiomyopathy
4607	MYBPC3	HP:0001663	Ventricular fibrillation
4607	MYBPC3	HP:0001640	Cardiomegaly
4607	MYBPC3	HP:0001639	Hypertrophic cardiomyopathy
4607	MYBPC3	HP:0001635	Congestive heart failure
4607	MYBPC3	HP:0000407	Sensorineural hearing impairment
4607	MYBPC3	HP:0001714	Ventricular hypertrophy
4607	MYBPC3	HP:0001874	Abnormality of neutrophils
4609	MYC	HP:0003745	Sporadic
4609	MYC	HP:0001392	Abnormality of the liver
4609	MYC	HP:0025435	Increased circulating lactate dehydrogenase concentration
4609	MYC	HP:0000137	Abnormality of the ovary
4609	MYC	HP:0001428	Somatic mutation
4609	MYC	HP:0002733	Abnormal lymph node morphology
4609	MYC	HP:0002721	Immunodeficiency
4609	MYC	HP:0002017	Nausea and vomiting
4609	MYC	HP:0002027	Abdominal pain
4609	MYC	HP:0002149	Hyperuricemia
4609	MYC	HP:0002239	Gastrointestinal hemorrhage
4609	MYC	HP:0100649	Neoplasm of the oral cavity
4609	MYC	HP:0005561	Abnormality of bone marrow cell morphology
4609	MYC	HP:0030080	Burkitt lymphoma
4609	MYC	HP:0005214	Intestinal obstruction
4609	MYC	HP:0001732	Abnormality of the pancreas
4609	MYC	HP:0001743	Abnormality of the spleen
4609	MYC	HP:0005407	Decreased proportion of CD4-positive helper T cells
4613	MYCN	HP:0001256	Intellectual disability, mild
4613	MYCN	HP:0001249	Intellectual disability
4613	MYCN	HP:0002589	Gastrointestinal atresia
4613	MYCN	HP:0002575	Tracheoesophageal fistula
4613	MYCN	HP:0000083	Renal insufficiency
4613	MYCN	HP:0000085	Horseshoe kidney
4613	MYCN	HP:0000077	Abnormality of the kidney
4613	MYCN	HP:0000076	Vesicoureteral reflux
4613	MYCN	HP:0001328	Specific learning disability
4613	MYCN	HP:0000006	Autosomal dominant inheritance
4613	MYCN	HP:0000123	Nephritis
4613	MYCN	HP:0000126	Hydronephrosis
4613	MYCN	HP:0000110	Renal dysplasia
4613	MYCN	HP:0002023	Anal atresia
4613	MYCN	HP:0002032	Esophageal atresia
4613	MYCN	HP:0004692	4-5 toe syndactyly
4613	MYCN	HP:0004691	2-3 toe syndactyly
4613	MYCN	HP:0010446	Tricuspid stenosis
4613	MYCN	HP:0009577	Short middle phalanx of the 2nd finger
4613	MYCN	HP:0003577	Congenital onset
4613	MYCN	HP:0002247	Duodenal atresia
4613	MYCN	HP:0011976	Elevated urinary catecholamines
4613	MYCN	HP:0009778	Short thumb
4613	MYCN	HP:0004209	Clinodactyly of the 5th finger
4613	MYCN	HP:0004220	Short middle phalanx of the 5th finger
4613	MYCN	HP:0001999	Abnormal facial shape
4613	MYCN	HP:0004322	Short stature
4613	MYCN	HP:0004375	Neoplasm of the nervous system
4613	MYCN	HP:0012745	Short palpebral fissure
4613	MYCN	HP:0011662	Tricuspid atresia
4613	MYCN	HP:0011625	Multiple muscular ventricular septal defects
4613	MYCN	HP:0011611	Interrupted aortic arch
4613	MYCN	HP:0045025	Narrow palpebral fissure
4613	MYCN	HP:0005819	Short middle phalanx of finger
4613	MYCN	HP:0000286	Epicanthus
4613	MYCN	HP:0000269	Prominent occiput
4613	MYCN	HP:0000237	Small anterior fontanelle
4613	MYCN	HP:0000252	Microcephaly
4613	MYCN	HP:0000218	High palate
4613	MYCN	HP:0001561	Polyhydramnios
4613	MYCN	HP:0000232	Everted lower lip vermilion
4613	MYCN	HP:0001558	Decreased fetal movement
4613	MYCN	HP:0005235	Jejunal atresia
4613	MYCN	HP:0001605	Vocal cord paralysis
4613	MYCN	HP:0000365	Hearing impairment
4613	MYCN	HP:0000358	Posteriorly rotated ears
4613	MYCN	HP:0000369	Low-set ears
4613	MYCN	HP:0000347	Micrognathia
4613	MYCN	HP:0001643	Patent ductus arteriosus
4613	MYCN	HP:0000325	Triangular face
4613	MYCN	HP:0000324	Facial asymmetry
4613	MYCN	HP:0001629	Ventricular septal defect
4613	MYCN	HP:0001627	Abnormal heart morphology
4613	MYCN	HP:0000407	Sensorineural hearing impairment
4613	MYCN	HP:0001734	Annular pancreas
4613	MYCN	HP:0000405	Conductive hearing impairment
4613	MYCN	HP:0012471	Thick vermilion border
4613	MYCN	HP:0000463	Anteverted nares
4613	MYCN	HP:0001770	Toe syndactyly
4613	MYCN	HP:0000437	Depressed nasal tip
4613	MYCN	HP:0001746	Asplenia
4613	MYCN	HP:0001748	Polysplenia
4613	MYCN	HP:0001747	Accessory spleen
4613	MYCN	HP:0000431	Wide nasal bridge
4613	MYCN	HP:0001831	Short toe
4613	MYCN	HP:0000582	Upslanted palpebral fissure
4613	MYCN	HP:0000581	Blepharophimosis
4615	MYD88	HP:0001297	Stroke
4615	MYD88	HP:0100806	Sepsis
4615	MYD88	HP:0001271	Polyneuropathy
4615	MYD88	HP:0001251	Ataxia
4615	MYD88	HP:0010976	B lymphocytopenia
4615	MYD88	HP:0000083	Renal insufficiency
4615	MYD88	HP:0000007	Autosomal recessive inheritance
4615	MYD88	HP:0002665	Lymphoma
4615	MYD88	HP:0002633	Vasculitis
4615	MYD88	HP:0032434	Delayed umbilical cord separation
4615	MYD88	HP:0001428	Somatic mutation
4615	MYD88	HP:0002719	Recurrent infections
4615	MYD88	HP:0002716	Lymphadenopathy
4615	MYD88	HP:0002721	Immunodeficiency
4615	MYD88	HP:0002024	Malabsorption
4615	MYD88	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
4615	MYD88	HP:0002014	Diarrhea
4615	MYD88	HP:0100539	Periorbital edema
4615	MYD88	HP:0002093	Respiratory insufficiency
4615	MYD88	HP:0002076	Migraine
4615	MYD88	HP:0002039	Anorexia
4615	MYD88	HP:0003459	Polyclonal elevation of IgM
4615	MYD88	HP:0002113	Pulmonary infiltrates
4615	MYD88	HP:0002240	Hepatomegaly
4615	MYD88	HP:0002239	Gastrointestinal hemorrhage
4615	MYD88	HP:0003565	Elevated erythrocyte sedimentation rate
4615	MYD88	HP:0002202	Pleural effusion
4615	MYD88	HP:0100778	Cryoglobulinemia
4615	MYD88	HP:0100724	Hypercoagulability
4615	MYD88	HP:0001025	Urticaria
4615	MYD88	HP:0002354	Memory impairment
4615	MYD88	HP:0002321	Vertigo
4615	MYD88	HP:0010841	Multifocal epileptiform discharges
4615	MYD88	HP:0009830	Peripheral neuropathy
4615	MYD88	HP:0010741	Pedal edema
4615	MYD88	HP:0005508	Monoclonal immunoglobulin M proteinemia
4615	MYD88	HP:0006824	Cranial nerve paralysis
4615	MYD88	HP:0001945	Fever
4615	MYD88	HP:0001909	Leukemia
4615	MYD88	HP:0006946	Recurrent meningitis
4615	MYD88	HP:0004372	Reduced consciousness/confusion
4615	MYD88	HP:0003095	Septic arthritis
4615	MYD88	HP:0040089	Abnormal natural killer cell count
4615	MYD88	HP:0000980	Pallor
4615	MYD88	HP:0000979	Purpura
4615	MYD88	HP:0000965	Cutis marmorata
4615	MYD88	HP:0008046	Abnormal retinal vascular morphology
4615	MYD88	HP:0001581	Recurrent skin infections
4615	MYD88	HP:0000225	Gingival bleeding
4615	MYD88	HP:0002840	Lymphadenitis
4615	MYD88	HP:0012378	Fatigue
4615	MYD88	HP:0000365	Hearing impairment
4615	MYD88	HP:0025615	Abscess
4615	MYD88	HP:0001635	Congestive heart failure
4615	MYD88	HP:0001744	Splenomegaly
4615	MYD88	HP:0000421	Epistaxis
4615	MYD88	HP:0005406	Recurrent bacterial skin infections
4615	MYD88	HP:0005403	T lymphocytopenia
4615	MYD88	HP:0000520	Proptosis
4615	MYD88	HP:0000573	Retinal hemorrhage
4615	MYD88	HP:0001897	Normocytic anemia
4615	MYD88	HP:0001874	Abnormality of neutrophils
4617	MYF5	HP:0000007	Autosomal recessive inheritance
4617	MYF5	HP:0002650	Scoliosis
4617	MYF5	HP:0000767	Pectus excavatum
4617	MYF5	HP:0000773	Short ribs
4617	MYF5	HP:0000921	Missing ribs
4617	MYF5	HP:0005864	Pseudoarthrosis
4617	MYF5	HP:0025584	Hypotropia
4617	MYF5	HP:0012366	Basilar invagination
4617	MYF5	HP:0000473	Torticollis
4617	MYF5	HP:0000508	Ptosis
4617	MYF5	HP:0000577	Exotropia
4617	MYF5	HP:0000544	External ophthalmoplegia
4618	MYF6	HP:0003738	Exercise-induced myalgia
4618	MYF6	HP:0001290	Generalized hypotonia
4618	MYF6	HP:0002522	Areflexia of lower limbs
4618	MYF6	HP:0003803	Type 1 muscle fiber predominance
4618	MYF6	HP:0000020	Urinary incontinence
4618	MYF6	HP:0000028	Cryptorchidism
4618	MYF6	HP:0008994	Proximal muscle weakness in lower limbs
4618	MYF6	HP:0008997	Proximal muscle weakness in upper limbs
4618	MYF6	HP:0008981	Calf muscle hypertrophy
4618	MYF6	HP:0001436	Abnormality of the foot musculature
4618	MYF6	HP:0002747	Respiratory insufficiency due to muscle weakness
4618	MYF6	HP:0002021	Pyloric stenosis
4618	MYF6	HP:0002047	Malignant hyperthermia
4618	MYF6	HP:0008180	Mildly elevated creatine kinase
4618	MYF6	HP:0003477	Peripheral axonal neuropathy
4618	MYF6	HP:0003458	EMG: myopathic abnormalities
4618	MYF6	HP:0002194	Delayed gross motor development
4618	MYF6	HP:0010546	Muscle fibrillation
4618	MYF6	HP:0001048	Cavernous hemangioma
4618	MYF6	HP:0002355	Difficulty walking
4618	MYF6	HP:0003687	Centrally nucleated skeletal muscle fibers
4618	MYF6	HP:0012768	Neonatal asphyxia
4618	MYF6	HP:0004488	Macrocephaly at birth
4618	MYF6	HP:0000883	Thin ribs
4618	MYF6	HP:0001561	Polyhydramnios
4618	MYF6	HP:0001558	Decreased fetal movement
4618	MYF6	HP:0001520	Large for gestational age
4618	MYF6	HP:0005268	Miscarriage
4618	MYF6	HP:0000508	Ptosis
4618	MYF6	HP:0000544	External ophthalmoplegia
4620	MYH2	HP:0002460	Distal muscle weakness
4620	MYH2	HP:0003701	Proximal muscle weakness
4620	MYH2	HP:0001290	Generalized hypotonia
4620	MYH2	HP:0002515	Waddling gait
4620	MYH2	HP:0003803	Type 1 muscle fiber predominance
4620	MYH2	HP:0000007	Autosomal recessive inheritance
4620	MYH2	HP:0000006	Autosomal dominant inheritance
4620	MYH2	HP:0002650	Scoliosis
4620	MYH2	HP:0002015	Dysphagia
4620	MYH2	HP:0003324	Generalized muscle weakness
4620	MYH2	HP:0002058	Myopathic facies
4620	MYH2	HP:0003577	Congenital onset
4620	MYH2	HP:0003557	Increased variability in muscle fiber diameter
4620	MYH2	HP:0003691	Scapular winging
4620	MYH2	HP:0000602	Ophthalmoplegia
4620	MYH2	HP:0003198	Myopathy
4620	MYH2	HP:0100299	Muscle fiber inclusion bodies
4620	MYH2	HP:0002803	Congenital contracture
4620	MYH2	HP:0000218	High palate
4620	MYH2	HP:0000467	Neck muscle weakness
4620	MYH2	HP:0000508	Ptosis
4621	MYH3	HP:0001181	Adducted thumb
4621	MYH3	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
4621	MYH3	HP:0003764	Nevus
4621	MYH3	HP:0001272	Cerebellar atrophy
4621	MYH3	HP:0001270	Motor delay
4621	MYH3	HP:0001288	Gait disturbance
4621	MYH3	HP:0100830	Round ear
4621	MYH3	HP:0001250	Seizure
4621	MYH3	HP:0001249	Intellectual disability
4621	MYH3	HP:0001239	Wrist flexion contracture
4621	MYH3	HP:0006109	Absent phalangeal crease
4621	MYH3	HP:0006101	Finger syndactyly
4621	MYH3	HP:0008729	Absence of labia majora
4621	MYH3	HP:0008736	Hypoplasia of penis
4621	MYH3	HP:0000046	Small scrotum
4621	MYH3	HP:0001376	Limitation of joint mobility
4621	MYH3	HP:0001371	Flexion contracture
4621	MYH3	HP:0001373	Joint dislocation
4621	MYH3	HP:0001387	Joint stiffness
4621	MYH3	HP:0000023	Inguinal hernia
4621	MYH3	HP:0001363	Craniosynostosis
4621	MYH3	HP:0000028	Cryptorchidism
4621	MYH3	HP:0008897	Postnatal growth retardation
4621	MYH3	HP:0008872	Feeding difficulties in infancy
4621	MYH3	HP:0001324	Muscle weakness
4621	MYH3	HP:0000007	Autosomal recessive inheritance
4621	MYH3	HP:0000006	Autosomal dominant inheritance
4621	MYH3	HP:0002650	Scoliosis
4621	MYH3	HP:0002643	Neonatal respiratory distress
4621	MYH3	HP:0000164	Abnormality of the dentition
4621	MYH3	HP:0000160	Narrow mouth
4621	MYH3	HP:0000157	Abnormality of the tongue
4621	MYH3	HP:0000175	Cleft palate
4621	MYH3	HP:0000135	Hypogonadism
4621	MYH3	HP:0007598	Bilateral single transverse palmar creases
4621	MYH3	HP:0002757	Recurrent fractures
4621	MYH3	HP:0002751	Kyphoscoliosis
4621	MYH3	HP:0005997	Neck joint contracture
4621	MYH3	HP:0003302	Spondylolisthesis
4621	MYH3	HP:0002089	Pulmonary hypoplasia
4621	MYH3	HP:0100543	Cognitive impairment
4621	MYH3	HP:0002047	Malignant hyperthermia
4621	MYH3	HP:0009465	Ulnar deviation of finger
4621	MYH3	HP:0033142	Long nasal bridge
4621	MYH3	HP:0010489	Absent palmar crease
4621	MYH3	HP:0009487	Ulnar deviation of the hand
4621	MYH3	HP:0009473	Joint contracture of the hand
4621	MYH3	HP:0003422	Vertebral segmentation defect
4621	MYH3	HP:0002167	Abnormality of speech or vocalization
4621	MYH3	HP:0002162	Low posterior hairline
4621	MYH3	HP:0100490	Camptodactyly of finger
4621	MYH3	HP:0010554	Cutaneous finger syndactyly
4621	MYH3	HP:0010557	Overlapping fingers
4621	MYH3	HP:0011842	Abnormal skeletal morphology
4621	MYH3	HP:0011824	Chin with H-shaped crease
4621	MYH3	HP:0003577	Congenital onset
4621	MYH3	HP:0002205	Recurrent respiratory infections
4621	MYH3	HP:0100790	Hernia
4621	MYH3	HP:0009702	Carpal synostosis
4621	MYH3	HP:0008368	Tarsal synostosis
4621	MYH3	HP:0001060	Axillary pterygium
4621	MYH3	HP:0001059	Pterygium
4621	MYH3	HP:0002365	Hypoplasia of the brainstem
4621	MYH3	HP:0001040	Multiple pterygia
4621	MYH3	HP:0010751	Dimple chin
4621	MYH3	HP:0009773	Symphalangism affecting the phalanges of the hand
4621	MYH3	HP:0008445	Cervical spinal canal stenosis
4621	MYH3	HP:0009760	Antecubital pterygium
4621	MYH3	HP:0009756	Popliteal pterygium
4621	MYH3	HP:0004942	Aortic aneurysm
4621	MYH3	HP:0000678	Dental crowding
4621	MYH3	HP:0004322	Short stature
4621	MYH3	HP:0006958	Abnormal auditory evoked potentials
4621	MYH3	HP:0030680	Abnormality of cardiovascular system morphology
4621	MYH3	HP:0003049	Ulnar deviation of the wrist
4621	MYH3	HP:0003044	Shoulder flexion contracture
4621	MYH3	HP:0100022	Abnormality of movement
4621	MYH3	HP:0000767	Pectus excavatum
4621	MYH3	HP:0000766	Abnormal sternum morphology
4621	MYH3	HP:0000768	Pectus carinatum
4621	MYH3	HP:0012718	Morphological abnormality of the gastrointestinal tract
4621	MYH3	HP:0012785	Flexion contracture of finger
4621	MYH3	HP:0003196	Short nose
4621	MYH3	HP:0000902	Rib fusion
4621	MYH3	HP:0003202	Skeletal muscle atrophy
4621	MYH3	HP:0005830	Flexion contracture of toe
4621	MYH3	HP:0034391	Elbow contracture
4621	MYH3	HP:0003298	Spina bifida occulta
4621	MYH3	HP:0003273	Hip contracture
4621	MYH3	HP:0003272	Abnormal hip bone morphology
4621	MYH3	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
4621	MYH3	HP:0000951	Abnormality of the skin
4621	MYH3	HP:0008065	Aplasia/Hypoplasia of the skin
4621	MYH3	HP:0000286	Epicanthus
4621	MYH3	HP:0000298	Mask-like facies
4621	MYH3	HP:0000275	Narrow face
4621	MYH3	HP:0000276	Long face
4621	MYH3	HP:0000272	Malar flattening
4621	MYH3	HP:0000268	Dolichocephaly
4621	MYH3	HP:0002829	Arthralgia
4621	MYH3	HP:0002827	Hip dislocation
4621	MYH3	HP:0002804	Arthrogryposis multiplex congenita
4621	MYH3	HP:0006380	Knee flexion contracture
4621	MYH3	HP:0000252	Microcephaly
4621	MYH3	HP:0001552	Barrel-shaped chest
4621	MYH3	HP:0000218	High palate
4621	MYH3	HP:0001562	Oligohydramnios
4621	MYH3	HP:0001561	Polyhydramnios
4621	MYH3	HP:0001558	Decreased fetal movement
4621	MYH3	HP:0001557	Prenatal movement abnormality
4621	MYH3	HP:0001537	Umbilical hernia
4621	MYH3	HP:0000205	Pursed lips
4621	MYH3	HP:0000202	Orofacial cleft
4621	MYH3	HP:0030039	Fused thoracic vertebrae
4621	MYH3	HP:0001508	Failure to thrive
4621	MYH3	HP:0001518	Small for gestational age
4621	MYH3	HP:0001511	Intrauterine growth retardation
4621	MYH3	HP:0001510	Growth delay
4621	MYH3	HP:0006501	Aplasia/Hypoplasia of the radius
4621	MYH3	HP:0012385	Camptodactyly
4621	MYH3	HP:0012368	Flat face
4621	MYH3	HP:0002937	Hemivertebrae
4621	MYH3	HP:0002948	Vertebral fusion
4621	MYH3	HP:0002949	Fused cervical vertebrae
4621	MYH3	HP:0001611	Hypernasal speech
4621	MYH3	HP:0000365	Hearing impairment
4621	MYH3	HP:0000364	Hearing abnormality
4621	MYH3	HP:0000358	Posteriorly rotated ears
4621	MYH3	HP:0000369	Low-set ears
4621	MYH3	HP:0000343	Long philtrum
4621	MYH3	HP:0000347	Micrognathia
4621	MYH3	HP:0000346	Whistling appearance
4621	MYH3	HP:0000316	Hypertelorism
4621	MYH3	HP:0001646	Abnormal aortic valve morphology
4621	MYH3	HP:0002987	Elbow flexion contracture
4621	MYH3	HP:0000325	Triangular face
4621	MYH3	HP:0000324	Facial asymmetry
4621	MYH3	HP:0001629	Ventricular septal defect
4621	MYH3	HP:0001623	Breech presentation
4621	MYH3	HP:0000307	Pointed chin
4621	MYH3	HP:0000303	Mandibular prognathia
4621	MYH3	HP:0000405	Conductive hearing impairment
4621	MYH3	HP:0000486	Strabismus
4621	MYH3	HP:0000494	Downslanted palpebral fissures
4621	MYH3	HP:0000490	Deeply set eye
4621	MYH3	HP:0000492	Abnormal eyelid morphology
4621	MYH3	HP:0000457	Depressed nasal ridge
4621	MYH3	HP:0000470	Short neck
4621	MYH3	HP:0000465	Webbed neck
4621	MYH3	HP:0000411	Protruding ear
4621	MYH3	HP:0001760	Abnormal foot morphology
4621	MYH3	HP:0001762	Talipes equinovarus
4621	MYH3	HP:0000431	Wide nasal bridge
4621	MYH3	HP:0000430	Underdeveloped nasal alae
4621	MYH3	HP:0001822	Hallux valgus
4621	MYH3	HP:0001838	Rocker bottom foot
4621	MYH3	HP:0000506	Telecanthus
4621	MYH3	HP:0000508	Ptosis
4621	MYH3	HP:0000581	Blepharophimosis
4621	MYH3	HP:0011220	Prominent forehead
4621	MYH3	HP:0001883	Talipes
4624	MYH6	HP:0001297	Stroke
4624	MYH6	HP:0001279	Syncope
4624	MYH6	HP:0000006	Autosomal dominant inheritance
4624	MYH6	HP:0033755	Increased left ventricular end-diastolic volume
4624	MYH6	HP:0033764	Death in middle age
4624	MYH6	HP:0002718	Recurrent bacterial infections
4624	MYH6	HP:0005957	Breathing dysregulation
4624	MYH6	HP:0002094	Dyspnea
4624	MYH6	HP:0002092	Pulmonary arterial hypertension
4624	MYH6	HP:0002090	Pneumonia
4624	MYH6	HP:0100578	Lipoatrophy
4624	MYH6	HP:0011712	Right bundle branch block
4624	MYH6	HP:0011710	Bundle branch block
4624	MYH6	HP:0011704	Sick sinus syndrome
4624	MYH6	HP:0011705	First degree atrioventricular block
4624	MYH6	HP:0003457	EMG abnormality
4624	MYH6	HP:0004756	Ventricular tachycardia
4624	MYH6	HP:0004755	Supraventricular tachycardia
4624	MYH6	HP:0004749	Atrial flutter
4624	MYH6	HP:0003596	Middle age onset
4624	MYH6	HP:0003584	Late onset
4624	MYH6	HP:0003546	Exercise intolerance
4624	MYH6	HP:0032092	Left ventricular outflow tract obstruction
4624	MYH6	HP:0002326	Transient ischemic attack
4624	MYH6	HP:0010741	Pedal edema
4624	MYH6	HP:0001962	Palpitations
4624	MYH6	HP:0012664	Reduced left ventricular ejection fraction
4624	MYH6	HP:0012666	Severely reduced left ventricular ejection fraction
4624	MYH6	HP:0011462	Young adult onset
4624	MYH6	HP:0012764	Orthopnea
4624	MYH6	HP:0003198	Myopathy
4624	MYH6	HP:0030718	Right atrial enlargement
4624	MYH6	HP:0003236	Elevated circulating creatine kinase concentration
4624	MYH6	HP:0000982	Palmoplantar keratoderma
4624	MYH6	HP:0000961	Cyanosis
4624	MYH6	HP:0011675	Arrhythmia
4624	MYH6	HP:0012250	ST segment depression
4624	MYH6	HP:0005133	Right ventricular dilatation
4624	MYH6	HP:0005115	Supraventricular arrhythmia
4624	MYH6	HP:0005110	Atrial fibrillation
4624	MYH6	HP:0002875	Exertional dyspnea
4624	MYH6	HP:0012378	Fatigue
4624	MYH6	HP:0012382	Left-to-right shunt
4624	MYH6	HP:0006536	Airway obstruction
4624	MYH6	HP:0005180	Tricuspid regurgitation
4624	MYH6	HP:0005162	Abnormal left ventricular function
4624	MYH6	HP:0001699	Sudden death
4624	MYH6	HP:0001670	Asymmetric septal hypertrophy
4624	MYH6	HP:0001682	Subvalvular aortic stenosis
4624	MYH6	HP:0001684	Secundum atrial septal defect
4624	MYH6	HP:0001644	Dilated cardiomyopathy
4624	MYH6	HP:0001653	Mitral regurgitation
4624	MYH6	HP:0001639	Hypertrophic cardiomyopathy
4624	MYH6	HP:0001635	Congestive heart failure
4624	MYH6	HP:0001633	Abnormal mitral valve morphology
4624	MYH6	HP:0005317	Increased pulmonary vascular resistance
4624	MYH6	HP:0000407	Sensorineural hearing impairment
4624	MYH6	HP:0001708	Right ventricular failure
4624	MYH6	HP:0001712	Left ventricular hypertrophy
4624	MYH6	HP:0031664	Systolic heart murmur
4624	MYH6	HP:0001874	Abnormality of neutrophils
4625	MYH7	HP:0002460	Distal muscle weakness
4625	MYH7	HP:0003789	Minicore myopathy
4625	MYH7	HP:0001195	Single umbilical artery
4625	MYH7	HP:0033567	Right axis deviation
4625	MYH7	HP:0002421	Poor head control
4625	MYH7	HP:0003749	Pelvic girdle muscle weakness
4625	MYH7	HP:0003724	Shoulder girdle muscle atrophy
4625	MYH7	HP:0003722	Neck flexor weakness
4625	MYH7	HP:0003741	Congenital muscular dystrophy
4625	MYH7	HP:0003707	Calf muscle pseudohypertrophy
4625	MYH7	HP:0003704	Scapuloperoneal weakness
4625	MYH7	HP:0003701	Proximal muscle weakness
4625	MYH7	HP:0003700	Generalized amyotrophy
4625	MYH7	HP:0001290	Generalized hypotonia
4625	MYH7	HP:0001288	Gait disturbance
4625	MYH7	HP:0001249	Intellectual disability
4625	MYH7	HP:0001265	Hyporeflexia
4625	MYH7	HP:0002515	Waddling gait
4625	MYH7	HP:0002527	Falls
4625	MYH7	HP:0002505	Loss of ambulation
4625	MYH7	HP:0003805	Rimmed vacuoles
4625	MYH7	HP:0003803	Type 1 muscle fiber predominance
4625	MYH7	HP:0008800	Limited hip movement
4625	MYH7	HP:0001385	Hip dysplasia
4625	MYH7	HP:0001324	Muscle weakness
4625	MYH7	HP:0000007	Autosomal recessive inheritance
4625	MYH7	HP:0000006	Autosomal dominant inheritance
4625	MYH7	HP:0002637	Cerebral ischemia
4625	MYH7	HP:0002650	Scoliosis
4625	MYH7	HP:0001315	Reduced tendon reflexes
4625	MYH7	HP:0031108	Triceps weakness
4625	MYH7	HP:0008994	Proximal muscle weakness in lower limbs
4625	MYH7	HP:0008981	Calf muscle hypertrophy
4625	MYH7	HP:0008963	Tibialis muscle weakness
4625	MYH7	HP:0008956	Proximal lower limb amyotrophy
4625	MYH7	HP:0031295	Left atrial enlargement
4625	MYH7	HP:0006251	Limited wrist extension
4625	MYH7	HP:0002792	Reduced vital capacity
4625	MYH7	HP:0001430	Abnormality of the calf musculature
4625	MYH7	HP:0001436	Abnormality of the foot musculature
4625	MYH7	HP:0004696	Talipes cavus equinovarus
4625	MYH7	HP:0005991	Limited neck flexion
4625	MYH7	HP:0003327	Axial muscle weakness
4625	MYH7	HP:0003325	Limb-girdle muscle weakness
4625	MYH7	HP:0003326	Myalgia
4625	MYH7	HP:0003307	Hyperlordosis
4625	MYH7	HP:0003306	Spinal rigidity
4625	MYH7	HP:0003323	Progressive muscle weakness
4625	MYH7	HP:0003324	Generalized muscle weakness
4625	MYH7	HP:0011808	Decreased patellar reflex
4625	MYH7	HP:0002092	Pulmonary arterial hypertension
4625	MYH7	HP:0002093	Respiratory insufficiency
4625	MYH7	HP:0002091	Restrictive ventilatory defect
4625	MYH7	HP:0003394	Muscle spasm
4625	MYH7	HP:0003376	Steppage gait
4625	MYH7	HP:0002058	Myopathic facies
4625	MYH7	HP:0100578	Lipoatrophy
4625	MYH7	HP:0011711	Left anterior fascicular block
4625	MYH7	HP:0011712	Right bundle branch block
4625	MYH7	HP:0011703	Sinus tachycardia
4625	MYH7	HP:0008180	Mildly elevated creatine kinase
4625	MYH7	HP:0003484	Upper limb muscle weakness
4625	MYH7	HP:0003457	EMG abnormality
4625	MYH7	HP:0003458	EMG: myopathic abnormalities
4625	MYH7	HP:0004756	Ventricular tachycardia
4625	MYH7	HP:0003445	EMG: neuropathic changes
4625	MYH7	HP:0011916	Toe extensor amyotrophy
4625	MYH7	HP:0002194	Delayed gross motor development
4625	MYH7	HP:0010505	Limitation of movement at ankles
4625	MYH7	HP:0003593	Infantile onset
4625	MYH7	HP:0003581	Adult onset
4625	MYH7	HP:0003555	Muscle fiber splitting
4625	MYH7	HP:0003551	Difficulty climbing stairs
4625	MYH7	HP:0003547	Shoulder girdle muscle weakness
4625	MYH7	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
4625	MYH7	HP:0003557	Increased variability in muscle fiber diameter
4625	MYH7	HP:0200128	Biventricular hypertrophy
4625	MYH7	HP:0100749	Chest pain
4625	MYH7	HP:0010628	Facial palsy
4625	MYH7	HP:0008316	Abnormal mitochondria in muscle tissue
4625	MYH7	HP:0003697	Scapuloperoneal amyotrophy
4625	MYH7	HP:0003691	Scapular winging
4625	MYH7	HP:0002355	Difficulty walking
4625	MYH7	HP:0003687	Centrally nucleated skeletal muscle fibers
4625	MYH7	HP:0003677	Slowly progressive
4625	MYH7	HP:0100613	Death in early adulthood
4625	MYH7	HP:0007126	Proximal amyotrophy
4625	MYH7	HP:0004971	Pulmonary artery hypoplasia
4625	MYH7	HP:0003621	Juvenile onset
4625	MYH7	HP:0011399	Tibialis anterior muscle atrophy
4625	MYH7	HP:0009072	Decreased Achilles reflex
4625	MYH7	HP:0009077	Weakness of long finger extensor muscles
4625	MYH7	HP:0009053	Distal lower limb muscle weakness
4625	MYH7	HP:0009055	Generalized limb muscle atrophy
4625	MYH7	HP:0009058	Increased muscle lipid content
4625	MYH7	HP:0009046	Difficulty running
4625	MYH7	HP:0009031	Amyotrophy of ankle musculature
4625	MYH7	HP:0012664	Reduced left ventricular ejection fraction
4625	MYH7	HP:0009027	Foot dorsiflexor weakness
4625	MYH7	HP:0004322	Short stature
4625	MYH7	HP:0004308	Ventricular arrhythmia
4625	MYH7	HP:0004306	Abnormal endocardium morphology
4625	MYH7	HP:0030664	Beevor's sign
4625	MYH7	HP:0030680	Abnormality of cardiovascular system morphology
4625	MYH7	HP:0030682	Left ventricular noncompaction
4625	MYH7	HP:0003029	Enlargement of the ankles
4625	MYH7	HP:0034192	Pulmonary thromboembolism
4625	MYH7	HP:0011463	Childhood onset
4625	MYH7	HP:0009129	Upper limb amyotrophy
4625	MYH7	HP:0004420	Arterial thrombosis
4625	MYH7	HP:0003198	Myopathy
4625	MYH7	HP:0100306	Muscle fiber hyaline bodies
4625	MYH7	HP:0000822	Hypertension
4625	MYH7	HP:0011575	Imperforate tricuspid valve
4625	MYH7	HP:0003236	Elevated circulating creatine kinase concentration
4625	MYH7	HP:0003200	Ragged-red muscle fibers
4625	MYH7	HP:0030848	Elevated jugular venous pressure
4625	MYH7	HP:0010316	Ebstein anomaly of the tricuspid valve
4625	MYH7	HP:0000982	Palmoplantar keratoderma
4625	MYH7	HP:0100295	Muscle fiber atrophy
4625	MYH7	HP:0100297	Increased endomysial connective tissue
4625	MYH7	HP:0011675	Arrhythmia
4625	MYH7	HP:0011682	Perimembranous ventricular septal defect
4625	MYH7	HP:0006467	Limited shoulder movement
4625	MYH7	HP:0005110	Atrial fibrillation
4625	MYH7	HP:0002828	Multiple joint contractures
4625	MYH7	HP:0030091	Absent muscle fiber merosin
4625	MYH7	HP:0031329	Interstitial cardiac fibrosis
4625	MYH7	HP:0000218	High palate
4625	MYH7	HP:0002877	Nocturnal hypoventilation
4625	MYH7	HP:0002875	Exertional dyspnea
4625	MYH7	HP:0001508	Failure to thrive
4625	MYH7	HP:0030051	Tip-toe gait
4625	MYH7	HP:0006510	Chronic pulmonary obstruction
4625	MYH7	HP:0012378	Fatigue
4625	MYH7	HP:0002938	Lumbar hyperlordosis
4625	MYH7	HP:0002943	Thoracic scoliosis
4625	MYH7	HP:0005180	Tricuspid regurgitation
4625	MYH7	HP:0005162	Abnormal left ventricular function
4625	MYH7	HP:0001699	Sudden death
4625	MYH7	HP:0001671	Abnormal cardiac septum morphology
4625	MYH7	HP:0001670	Asymmetric septal hypertrophy
4625	MYH7	HP:0001667	Right ventricular hypertrophy
4625	MYH7	HP:0001682	Subvalvular aortic stenosis
4625	MYH7	HP:0001680	Coarctation of aorta
4625	MYH7	HP:0001647	Bicuspid aortic valve
4625	MYH7	HP:0001643	Patent ductus arteriosus
4625	MYH7	HP:0001645	Sudden cardiac death
4625	MYH7	HP:0001644	Dilated cardiomyopathy
4625	MYH7	HP:0030148	Heart murmur
4625	MYH7	HP:0001653	Mitral regurgitation
4625	MYH7	HP:0001626	Abnormality of the cardiovascular system
4625	MYH7	HP:0001620	High pitched voice
4625	MYH7	HP:0001622	Premature birth
4625	MYH7	HP:0000308	Microretrognathia
4625	MYH7	HP:0001639	Hypertrophic cardiomyopathy
4625	MYH7	HP:0001635	Congestive heart failure
4625	MYH7	HP:0001631	Atrial septal defect
4625	MYH7	HP:0000303	Mandibular prognathia
4625	MYH7	HP:0001634	Mitral valve prolapse
4625	MYH7	HP:0030319	Weakness of facial musculature
4625	MYH7	HP:0031659	Fourth heart sound
4625	MYH7	HP:0000407	Sensorineural hearing impairment
4625	MYH7	HP:0001708	Right ventricular failure
4625	MYH7	HP:0030237	Hand muscle weakness
4625	MYH7	HP:0000467	Neck muscle weakness
4625	MYH7	HP:0001763	Pes planus
4625	MYH7	HP:0025710	Late young adult onset
4625	MYH7	HP:0001761	Pes cavus
4625	MYH7	HP:0012507	Weakness of orbicularis oculi muscle
4625	MYH7	HP:0001874	Abnormality of neutrophils
4626	MYH8	HP:0001376	Limitation of joint mobility
4626	MYH8	HP:0000006	Autosomal dominant inheritance
4626	MYH8	HP:0002002	Deep philtrum
4626	MYH8	HP:0002015	Dysphagia
4626	MYH8	HP:0011968	Feeding difficulties
4626	MYH8	HP:0010621	Cutaneous syndactyly of toes
4626	MYH8	HP:0009773	Symphalangism affecting the phalanges of the hand
4626	MYH8	HP:0004322	Short stature
4626	MYH8	HP:0003011	Abnormality of the musculature
4626	MYH8	HP:0005684	Distal arthrogryposis
4626	MYH8	HP:0400000	Tall chin
4626	MYH8	HP:0011672	Cardiac myxoma
4626	MYH8	HP:0000256	Macrocephaly
4626	MYH8	HP:0002827	Hip dislocation
4626	MYH8	HP:0002804	Arthrogryposis multiplex congenita
4626	MYH8	HP:0000211	Trismus
4626	MYH8	HP:0000347	Micrognathia
4626	MYH8	HP:0000324	Facial asymmetry
4626	MYH8	HP:0000303	Mandibular prognathia
4626	MYH8	HP:0001765	Hammertoe
4626	MYH8	HP:0001762	Talipes equinovarus
4626	MYH8	HP:0001840	Metatarsus adductus
4626	MYH8	HP:0000508	Ptosis
4627	MYH9	HP:0000083	Renal insufficiency
4627	MYH9	HP:0000093	Proteinuria
4627	MYH9	HP:0000077	Abnormality of the kidney
4627	MYH9	HP:0000006	Autosomal dominant inheritance
4627	MYH9	HP:0000123	Nephritis
4627	MYH9	HP:0000132	Menorrhagia
4627	MYH9	HP:0000112	Nephropathy
4627	MYH9	HP:0008148	Impaired epinephrine-induced platelet aggregation
4627	MYH9	HP:0011877	Increased mean platelet volume
4627	MYH9	HP:0008264	Neutrophil inclusion bodies
4627	MYH9	HP:0003577	Congenital onset
4627	MYH9	HP:0004866	Impaired ADP-induced platelet aggregation
4627	MYH9	HP:0003621	Juvenile onset
4627	MYH9	HP:0001977	Abnormal thrombosis
4627	MYH9	HP:0001905	Congenital thrombocytopenia
4627	MYH9	HP:0001902	Giant platelets
4627	MYH9	HP:0003010	Prolonged bleeding time
4627	MYH9	HP:0004406	Spontaneous, recurrent epistaxis
4627	MYH9	HP:0040235	Leukocyte inclusion bodies
4627	MYH9	HP:0000978	Bruising susceptibility
4627	MYH9	HP:0040185	Macrothrombocytopenia
4627	MYH9	HP:0005101	High-frequency hearing impairment
4627	MYH9	HP:0007819	Presenile cataracts
4627	MYH9	HP:0002910	Elevated hepatic transaminase
4627	MYH9	HP:0001658	Myocardial infarction
4627	MYH9	HP:0000407	Sensorineural hearing impairment
4627	MYH9	HP:0000421	Epistaxis
4627	MYH9	HP:0031689	Megakaryocyte dysplasia
4627	MYH9	HP:0001892	Abnormal bleeding
4627	MYH9	HP:0001873	Thrombocytopenia
4629	MYH11	HP:0001166	Arachnodactyly
4629	MYH11	HP:0010956	Fetal megacystis
4629	MYH11	HP:0033505	Livedo reticularis
4629	MYH11	HP:0001297	Stroke
4629	MYH11	HP:0100806	Sepsis
4629	MYH11	HP:0002586	Peritonitis
4629	MYH11	HP:0002580	Volvulus
4629	MYH11	HP:0002578	Gastroparesis
4629	MYH11	HP:0002566	Intestinal malrotation
4629	MYH11	HP:0000098	Tall stature
4629	MYH11	HP:0000072	Hydroureter
4629	MYH11	HP:0000021	Megacystis
4629	MYH11	HP:0002686	Prenatal maternal abnormality
4629	MYH11	HP:0000023	Inguinal hernia
4629	MYH11	HP:0000028	Cryptorchidism
4629	MYH11	HP:0000007	Autosomal recessive inheritance
4629	MYH11	HP:0000003	Multicystic kidney dysplasia
4629	MYH11	HP:0000006	Autosomal dominant inheritance
4629	MYH11	HP:0002650	Scoliosis
4629	MYH11	HP:0002647	Aortic dissection
4629	MYH11	HP:0002616	Aortic root aneurysm
4629	MYH11	HP:0012180	Cystic medial necrosis
4629	MYH11	HP:0012163	Carotid artery dilatation
4629	MYH11	HP:0002705	High, narrow palate
4629	MYH11	HP:0002780	Bronchomalacia
4629	MYH11	HP:0002719	Recurrent infections
4629	MYH11	HP:0002020	Gastroesophageal reflux
4629	MYH11	HP:0002017	Nausea and vomiting
4629	MYH11	HP:0002036	Hiatus hernia
4629	MYH11	HP:0002035	Rectal prolapse
4629	MYH11	HP:0030996	Megaduodenum
4629	MYH11	HP:0002015	Dysphagia
4629	MYH11	HP:0002089	Pulmonary hypoplasia
4629	MYH11	HP:0100546	Carotid artery stenosis
4629	MYH11	HP:0100544	Neoplasm of the heart
4629	MYH11	HP:0002043	Esophageal stricture
4629	MYH11	HP:0100519	Anuria
4629	MYH11	HP:0033132	Renal cortical hyperechogenicity
4629	MYH11	HP:0100580	Barrett esophagus
4629	MYH11	HP:0033165	Necrotizing enterocolitis
4629	MYH11	HP:0002140	Ischemic stroke
4629	MYH11	HP:0002138	Subarachnoid hemorrhage
4629	MYH11	HP:0002107	Pneumothorax
4629	MYH11	HP:0002105	Hemoptysis
4629	MYH11	HP:0003549	Abnormality of connective tissue
4629	MYH11	HP:0004890	Elevated pulmonary artery pressure
4629	MYH11	HP:0004887	Respiratory failure requiring assisted ventilation
4629	MYH11	HP:0100771	Hypoperistalsis
4629	MYH11	HP:0200146	Mucoid extracellular matrix accumulation
4629	MYH11	HP:0100775	Dural ectasia
4629	MYH11	HP:0100749	Chest pain
4629	MYH11	HP:0002326	Transient ischemic attack
4629	MYH11	HP:0100633	Esophagitis
4629	MYH11	HP:0004959	Descending thoracic aorta aneurysm
4629	MYH11	HP:0004970	Ascending tubular aorta aneurysm
4629	MYH11	HP:0004933	Ascending aortic dissection
4629	MYH11	HP:0004950	Peripheral arterial stenosis
4629	MYH11	HP:0004944	Dilatation of the cerebral artery
4629	MYH11	HP:0031857	Ineffective esophageal peristalsis
4629	MYH11	HP:0030680	Abnormality of cardiovascular system morphology
4629	MYH11	HP:0004389	Intestinal pseudo-obstruction
4629	MYH11	HP:0004388	Microcolon
4629	MYH11	HP:0004392	Prune belly
4629	MYH11	HP:0000766	Abnormal sternum morphology
4629	MYH11	HP:0012727	Thoracic aortic aneurysm
4629	MYH11	HP:0011499	Mydriasis
4629	MYH11	HP:0011461	Fetal onset
4629	MYH11	HP:0012763	Paroxysmal dyspnea
4629	MYH11	HP:0000822	Hypertension
4629	MYH11	HP:0003270	Abdominal distention
4629	MYH11	HP:0000978	Bruising susceptibility
4629	MYH11	HP:0000965	Cutis marmorata
4629	MYH11	HP:0008034	Abnormal iris pigmentation
4629	MYH11	HP:0000278	Retrognathia
4629	MYH11	HP:0005112	Abdominal aortic aneurysm
4629	MYH11	HP:0002875	Exertional dyspnea
4629	MYH11	HP:0001562	Oligohydramnios
4629	MYH11	HP:0001561	Polyhydramnios
4629	MYH11	HP:0001522	Death in infancy
4629	MYH11	HP:0001537	Umbilical hernia
4629	MYH11	HP:0001539	Omphalocele
4629	MYH11	HP:0012383	Bidirectional shunt
4629	MYH11	HP:0005214	Intestinal obstruction
4629	MYH11	HP:0005162	Abnormal left ventricular function
4629	MYH11	HP:0011024	Abnormality of the gastrointestinal tract
4629	MYH11	HP:0012330	Pyelonephritis
4629	MYH11	HP:0001677	Coronary artery atherosclerosis
4629	MYH11	HP:0001647	Bicuspid aortic valve
4629	MYH11	HP:0000316	Hypertelorism
4629	MYH11	HP:0001643	Patent ductus arteriosus
4629	MYH11	HP:0001659	Aortic regurgitation
4629	MYH11	HP:0001640	Cardiomegaly
4629	MYH11	HP:0012499	Descending aortic dissection
4629	MYH11	HP:0012495	Posterior cerebral artery stenosis
4629	MYH11	HP:0012493	Middle cerebral artery stenosis
4629	MYH11	HP:0012494	Anterior cerebral artery stenosis
4629	MYH11	HP:0000407	Sensorineural hearing impairment
4629	MYH11	HP:0012450	Chronic constipation
4629	MYH11	HP:0011102	Ileal atresia
4629	MYH11	HP:0011106	Hypovolemia
4629	MYH11	HP:0001763	Pes planus
4629	MYH11	HP:0000525	Abnormality iris morphology
4632	MYL1	HP:0003701	Proximal muscle weakness
4632	MYL1	HP:0001270	Motor delay
4632	MYL1	HP:0001284	Areflexia
4632	MYL1	HP:0001252	Hypotonia
4632	MYL1	HP:0003803	Type 1 muscle fiber predominance
4632	MYL1	HP:0001371	Flexion contracture
4632	MYL1	HP:0000007	Autosomal recessive inheritance
4632	MYL1	HP:0002747	Respiratory insufficiency due to muscle weakness
4632	MYL1	HP:0003327	Axial muscle weakness
4632	MYL1	HP:0003324	Generalized muscle weakness
4632	MYL1	HP:0002058	Myopathic facies
4632	MYL1	HP:0040288	Nasogastric tube feeding
4632	MYL1	HP:0002104	Apnea
4632	MYL1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
4632	MYL1	HP:0003577	Congenital onset
4632	MYL1	HP:0003557	Increased variability in muscle fiber diameter
4632	MYL1	HP:0011968	Feeding difficulties
4632	MYL1	HP:0040081	Abnormal circulating creatine kinase concentration
4632	MYL1	HP:0003273	Hip contracture
4632	MYL1	HP:0100297	Increased endomysial connective tissue
4632	MYL1	HP:0006380	Knee flexion contracture
4632	MYL1	HP:0002878	Respiratory failure
4632	MYL1	HP:0000218	High palate
4632	MYL1	HP:0001561	Polyhydramnios
4632	MYL1	HP:0001558	Decreased fetal movement
4632	MYL1	HP:0001522	Death in infancy
4632	MYL1	HP:0002987	Elbow flexion contracture
4632	MYL1	HP:0030319	Weakness of facial musculature
4632	MYL1	HP:0032988	Persistent head lag
4632	MYL1	HP:0000467	Neck muscle weakness
4633	MYL2	HP:0010872	T-wave inversion
4633	MYL2	HP:0002421	Poor head control
4633	MYL2	HP:0003749	Pelvic girdle muscle weakness
4633	MYL2	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
4633	MYL2	HP:0001290	Generalized hypotonia
4633	MYL2	HP:0001270	Motor delay
4633	MYL2	HP:0001284	Areflexia
4633	MYL2	HP:0001252	Hypotonia
4633	MYL2	HP:0001374	Congenital hip dislocation
4633	MYL2	HP:0001371	Flexion contracture
4633	MYL2	HP:0000007	Autosomal recessive inheritance
4633	MYL2	HP:0001337	Tremor
4633	MYL2	HP:0000006	Autosomal dominant inheritance
4633	MYL2	HP:0002650	Scoliosis
4633	MYL2	HP:0001315	Reduced tendon reflexes
4633	MYL2	HP:0031295	Left atrial enlargement
4633	MYL2	HP:0002751	Kyphoscoliosis
4633	MYL2	HP:0002747	Respiratory insufficiency due to muscle weakness
4633	MYL2	HP:0002015	Dysphagia
4633	MYL2	HP:0003307	Hyperlordosis
4633	MYL2	HP:0003323	Progressive muscle weakness
4633	MYL2	HP:0003324	Generalized muscle weakness
4633	MYL2	HP:0011807	Type 1 muscle fiber atrophy
4633	MYL2	HP:0002086	Abnormality of the respiratory system
4633	MYL2	HP:0002094	Dyspnea
4633	MYL2	HP:0002058	Myopathic facies
4633	MYL2	HP:0003388	Easy fatigability
4633	MYL2	HP:0011713	Left bundle branch block
4633	MYL2	HP:0004756	Ventricular tachycardia
4633	MYL2	HP:0004755	Supraventricular tachycardia
4633	MYL2	HP:0002169	Clonus
4633	MYL2	HP:0011842	Abnormal skeletal morphology
4633	MYL2	HP:0002240	Hepatomegaly
4633	MYL2	HP:0003581	Adult onset
4633	MYL2	HP:0003547	Shoulder girdle muscle weakness
4633	MYL2	HP:0004878	Intercostal muscle weakness
4633	MYL2	HP:0002205	Recurrent respiratory infections
4633	MYL2	HP:0200128	Biventricular hypertrophy
4633	MYL2	HP:0100749	Chest pain
4633	MYL2	HP:0011968	Feeding difficulties
4633	MYL2	HP:0010628	Facial palsy
4633	MYL2	HP:0011951	Aspiration pneumonia
4633	MYL2	HP:0002360	Sleep disturbance
4633	MYL2	HP:0002321	Vertigo
4633	MYL2	HP:0002315	Headache
4633	MYL2	HP:0010804	Tented upper lip vermilion
4633	MYL2	HP:0003623	Neonatal onset
4633	MYL2	HP:0001962	Palpitations
4633	MYL2	HP:0000602	Ophthalmoplegia
4633	MYL2	HP:0009027	Foot dorsiflexor weakness
4633	MYL2	HP:0000678	Dental crowding
4633	MYL2	HP:0009004	Hypoplasia of the musculature
4633	MYL2	HP:0004396	Poor appetite
4633	MYL2	HP:0004347	Weakness of muscles of respiration
4633	MYL2	HP:0000767	Pectus excavatum
4633	MYL2	HP:0011470	Nasogastric tube feeding in infancy
4633	MYL2	HP:0012785	Flexion contracture of finger
4633	MYL2	HP:0030718	Right atrial enlargement
4633	MYL2	HP:0003236	Elevated circulating creatine kinase concentration
4633	MYL2	HP:0003273	Hip contracture
4633	MYL2	HP:0011664	Left ventricular noncompaction cardiomyopathy
4633	MYL2	HP:0000276	Long face
4633	MYL2	HP:0005144	Ventricular septal hypertrophy
4633	MYL2	HP:0006466	Ankle flexion contracture
4633	MYL2	HP:0006380	Knee flexion contracture
4633	MYL2	HP:0031318	Myofiber disarray
4633	MYL2	HP:0002878	Respiratory failure
4633	MYL2	HP:0000218	High palate
4633	MYL2	HP:0001561	Polyhydramnios
4633	MYL2	HP:0001558	Decreased fetal movement
4633	MYL2	HP:0001522	Death in infancy
4633	MYL2	HP:0001508	Failure to thrive
4633	MYL2	HP:0012378	Fatigue
4633	MYL2	HP:0005216	Impaired mastication
4633	MYL2	HP:0006543	Cardiorespiratory arrest
4633	MYL2	HP:0001609	Hoarse voice
4633	MYL2	HP:0030192	Fatigable weakness of bulbar muscles
4633	MYL2	HP:0001670	Asymmetric septal hypertrophy
4633	MYL2	HP:0001685	Myocardial fibrosis
4633	MYL2	HP:0000347	Micrognathia
4633	MYL2	HP:0001648	Cor pulmonale
4633	MYL2	HP:0001645	Sudden cardiac death
4633	MYL2	HP:0001644	Dilated cardiomyopathy
4633	MYL2	HP:0030149	Cardiogenic shock
4633	MYL2	HP:0001663	Ventricular fibrillation
4633	MYL2	HP:0002987	Elbow flexion contracture
4633	MYL2	HP:0001653	Mitral regurgitation
4633	MYL2	HP:0001627	Abnormal heart morphology
4633	MYL2	HP:0001639	Hypertrophic cardiomyopathy
4633	MYL2	HP:0030319	Weakness of facial musculature
4633	MYL2	HP:0031656	Systolic anterior motion of the mitral valve
4633	MYL2	HP:0001723	Restrictive cardiomyopathy
4633	MYL2	HP:0001712	Left ventricular hypertrophy
4633	MYL2	HP:0012416	Hypercapnia
4633	MYL2	HP:0012418	Hypoxemia
4633	MYL2	HP:0001762	Talipes equinovarus
4633	MYL2	HP:0001761	Pes cavus
4633	MYL2	HP:0001824	Weight loss
4633	MYL2	HP:0000508	Ptosis
4634	MYL3	HP:0010872	T-wave inversion
4634	MYL3	HP:0000007	Autosomal recessive inheritance
4634	MYL3	HP:0000006	Autosomal dominant inheritance
4634	MYL3	HP:0031295	Left atrial enlargement
4634	MYL3	HP:0003621	Juvenile onset
4634	MYL3	HP:0001962	Palpitations
4634	MYL3	HP:0012664	Reduced left ventricular ejection fraction
4634	MYL3	HP:0002875	Exertional dyspnea
4634	MYL3	HP:0001695	Cardiac arrest
4634	MYL3	HP:0001645	Sudden cardiac death
4634	MYL3	HP:0001663	Ventricular fibrillation
4634	MYL3	HP:0001639	Hypertrophic cardiomyopathy
4634	MYL3	HP:0001635	Congestive heart failure
4634	MYL3	HP:0006685	Endocardial fibrosis
4634	MYL3	HP:0001723	Restrictive cardiomyopathy
4634	MYL3	HP:0001712	Left ventricular hypertrophy
4635	MYL4	HP:0000006	Autosomal dominant inheritance
4635	MYL4	HP:0011705	First degree atrioventricular block
4635	MYL4	HP:0004757	Paroxysmal atrial fibrillation
4635	MYL4	HP:0004754	Permanent atrial fibrillation
4635	MYL4	HP:0001962	Palpitations
4635	MYL4	HP:0011462	Young adult onset
4635	MYL4	HP:0001662	Bradycardia
4635	MYL4	HP:0001709	Third degree atrioventricular block
4638	MYLK	HP:0001166	Arachnodactyly
4638	MYLK	HP:0010956	Fetal megacystis
4638	MYLK	HP:0001297	Stroke
4638	MYLK	HP:0100806	Sepsis
4638	MYLK	HP:0002566	Intestinal malrotation
4638	MYLK	HP:0007430	Generalized edema
4638	MYLK	HP:0000098	Tall stature
4638	MYLK	HP:0000072	Hydroureter
4638	MYLK	HP:0000021	Megacystis
4638	MYLK	HP:0002686	Prenatal maternal abnormality
4638	MYLK	HP:0000023	Inguinal hernia
4638	MYLK	HP:0000028	Cryptorchidism
4638	MYLK	HP:0000007	Autosomal recessive inheritance
4638	MYLK	HP:0000003	Multicystic kidney dysplasia
4638	MYLK	HP:0000006	Autosomal dominant inheritance
4638	MYLK	HP:0002650	Scoliosis
4638	MYLK	HP:0002647	Aortic dissection
4638	MYLK	HP:0002616	Aortic root aneurysm
4638	MYLK	HP:0012163	Carotid artery dilatation
4638	MYLK	HP:0002705	High, narrow palate
4638	MYLK	HP:0002017	Nausea and vomiting
4638	MYLK	HP:0100544	Neoplasm of the heart
4638	MYLK	HP:0002140	Ischemic stroke
4638	MYLK	HP:0002138	Subarachnoid hemorrhage
4638	MYLK	HP:0002107	Pneumothorax
4638	MYLK	HP:0002105	Hemoptysis
4638	MYLK	HP:0003549	Abnormality of connective tissue
4638	MYLK	HP:0100771	Hypoperistalsis
4638	MYLK	HP:0200146	Mucoid extracellular matrix accumulation
4638	MYLK	HP:0100775	Dural ectasia
4638	MYLK	HP:0100749	Chest pain
4638	MYLK	HP:0002326	Transient ischemic attack
4638	MYLK	HP:0004959	Descending thoracic aorta aneurysm
4638	MYLK	HP:0004933	Ascending aortic dissection
4638	MYLK	HP:0004950	Peripheral arterial stenosis
4638	MYLK	HP:0004944	Dilatation of the cerebral artery
4638	MYLK	HP:0004942	Aortic aneurysm
4638	MYLK	HP:0030680	Abnormality of cardiovascular system morphology
4638	MYLK	HP:0004388	Microcolon
4638	MYLK	HP:0000766	Abnormal sternum morphology
4638	MYLK	HP:0012763	Paroxysmal dyspnea
4638	MYLK	HP:0000822	Hypertension
4638	MYLK	HP:0003270	Abdominal distention
4638	MYLK	HP:0000978	Bruising susceptibility
4638	MYLK	HP:0000965	Cutis marmorata
4638	MYLK	HP:0000278	Retrognathia
4638	MYLK	HP:0005112	Abdominal aortic aneurysm
4638	MYLK	HP:0002875	Exertional dyspnea
4638	MYLK	HP:0001562	Oligohydramnios
4638	MYLK	HP:0001561	Polyhydramnios
4638	MYLK	HP:0001522	Death in infancy
4638	MYLK	HP:0001537	Umbilical hernia
4638	MYLK	HP:0001539	Omphalocele
4638	MYLK	HP:0005162	Abnormal left ventricular function
4638	MYLK	HP:0011024	Abnormality of the gastrointestinal tract
4638	MYLK	HP:0001699	Sudden death
4638	MYLK	HP:0001677	Coronary artery atherosclerosis
4638	MYLK	HP:0001647	Bicuspid aortic valve
4638	MYLK	HP:0000316	Hypertelorism
4638	MYLK	HP:0001643	Patent ductus arteriosus
4638	MYLK	HP:0001659	Aortic regurgitation
4638	MYLK	HP:0001640	Cardiomegaly
4638	MYLK	HP:0012499	Descending aortic dissection
4638	MYLK	HP:0031649	Aortic rupture
4638	MYLK	HP:0011106	Hypovolemia
4638	MYLK	HP:0001763	Pes planus
4638	MYLK	HP:0000525	Abnormality iris morphology
4643	MYO1E	HP:0003774	Stage 5 chronic kidney disease
4643	MYO1E	HP:0002586	Peritonitis
4643	MYO1E	HP:0000097	Focal segmental glomerulosclerosis
4643	MYO1E	HP:0000093	Proteinuria
4643	MYO1E	HP:0000092	Renal tubular atrophy
4643	MYO1E	HP:0000007	Autosomal recessive inheritance
4643	MYO1E	HP:0000100	Nephrotic syndrome
4643	MYO1E	HP:0002027	Abdominal pain
4643	MYO1E	HP:0100539	Periorbital edema
4643	MYO1E	HP:0011947	Respiratory tract infection
4643	MYO1E	HP:0003676	Progressive
4643	MYO1E	HP:0002315	Headache
4643	MYO1E	HP:0003621	Juvenile onset
4643	MYO1E	HP:0012622	Chronic kidney disease
4643	MYO1E	HP:0001967	Diffuse mesangial sclerosis
4643	MYO1E	HP:0001945	Fever
4643	MYO1E	HP:0003073	Hypoalbuminemia
4643	MYO1E	HP:0000737	Irritability
4643	MYO1E	HP:0000707	Abnormality of the nervous system
4643	MYO1E	HP:0011463	Childhood onset
4643	MYO1E	HP:0000790	Hematuria
4643	MYO1E	HP:0000969	Edema
4643	MYO1E	HP:0031504	Foamy urine
4643	MYO1E	HP:0012579	Minimal change glomerulonephritis
4644	MYO5A	HP:0001290	Generalized hypotonia
4644	MYO5A	HP:0001276	Hypertonia
4644	MYO5A	HP:0001250	Seizure
4644	MYO5A	HP:0001252	Hypotonia
4644	MYO5A	HP:0001251	Ataxia
4644	MYO5A	HP:0001249	Intellectual disability
4644	MYO5A	HP:0001263	Global developmental delay
4644	MYO5A	HP:0001257	Spasticity
4644	MYO5A	HP:0007440	Generalized hyperpigmentation
4644	MYO5A	HP:0007443	Partial albinism
4644	MYO5A	HP:0002514	Cerebral calcification
4644	MYO5A	HP:0001328	Specific learning disability
4644	MYO5A	HP:0000007	Autosomal recessive inheritance
4644	MYO5A	HP:0001337	Tremor
4644	MYO5A	HP:0001321	Cerebellar hypoplasia
4644	MYO5A	HP:0012157	Subcortical cerebral atrophy
4644	MYO5A	HP:0002063	Rigidity
4644	MYO5A	HP:0002120	Cerebral cortical atrophy
4644	MYO5A	HP:0003593	Infantile onset
4644	MYO5A	HP:0003552	Muscle stiffness
4644	MYO5A	HP:0002220	Melanin pigment aggregation in hair shafts
4644	MYO5A	HP:0002218	Silver-gray hair
4644	MYO5A	HP:0002216	Premature graying of hair
4644	MYO5A	HP:0002227	White eyelashes
4644	MYO5A	HP:0002226	White eyebrow
4644	MYO5A	HP:0002205	Recurrent respiratory infections
4644	MYO5A	HP:0001010	Hypopigmentation of the skin
4644	MYO5A	HP:0001008	Accumulation of melanosomes in melanocytes
4644	MYO5A	HP:0002334	Abnormal cerebellar vermis morphology
4644	MYO5A	HP:0005599	Hypopigmentation of hair
4644	MYO5A	HP:0000639	Nystagmus
4644	MYO5A	HP:0000651	Diplopia
4644	MYO5A	HP:0000648	Optic atrophy
4644	MYO5A	HP:0011364	White hair
4644	MYO5A	HP:0003077	Hyperlipidemia
4644	MYO5A	HP:0100022	Abnormality of movement
4644	MYO5A	HP:0100308	Cerebral cortical hemiatrophy
4644	MYO5A	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft
4644	MYO5A	HP:0008059	Aplasia/Hypoplasia of the macula
4644	MYO5A	HP:0007754	Macular dystrophy
4644	MYO5A	HP:0007730	Iris hypopigmentation
4644	MYO5A	HP:0000486	Strabismus
4644	MYO5A	HP:0000488	Retinopathy
4644	MYO5A	HP:0011110	Recurrent tonsillitis
4644	MYO5A	HP:0000587	Abnormal optic nerve morphology
4644	MYO5A	HP:0000545	Myopia
4645	MYO5B	HP:0001263	Global developmental delay
4645	MYO5B	HP:0000007	Autosomal recessive inheritance
4645	MYO5B	HP:0000121	Nephrocalcinosis
4645	MYO5B	HP:0002014	Diarrhea
4645	MYO5B	HP:0030948	Elevated gamma-glutamyltransferase level
4645	MYO5B	HP:0003593	Infantile onset
4645	MYO5B	HP:0003573	Increased total bilirubin
4645	MYO5B	HP:0002242	Abnormal intestine morphology
4645	MYO5B	HP:0002240	Hepatomegaly
4645	MYO5B	HP:0011985	Acholic stools
4645	MYO5B	HP:0003623	Neonatal onset
4645	MYO5B	HP:0001944	Dehydration
4645	MYO5B	HP:0001942	Metabolic acidosis
4645	MYO5B	HP:0004322	Short stature
4645	MYO5B	HP:0031956	Elevated circulating aspartate aminotransferase concentration
4645	MYO5B	HP:0031964	Elevated circulating alanine aminotransferase concentration
4645	MYO5B	HP:0003073	Hypoalbuminemia
4645	MYO5B	HP:0004385	Protracted diarrhea
4645	MYO5B	HP:0004395	Malnutrition
4645	MYO5B	HP:0011473	Villous atrophy
4645	MYO5B	HP:0011472	Abnormality of small intestinal villus morphology
4645	MYO5B	HP:0011463	Childhood onset
4645	MYO5B	HP:0003124	Hypercholesterolemia
4645	MYO5B	HP:0003270	Abdominal distention
4645	MYO5B	HP:0000989	Pruritus
4645	MYO5B	HP:0000952	Jaundice
4645	MYO5B	HP:0012202	Increased serum bile acid concentration
4645	MYO5B	HP:0012211	Abnormal renal physiology
4645	MYO5B	HP:0001522	Death in infancy
4645	MYO5B	HP:0001508	Failure to thrive
4645	MYO5B	HP:0001510	Growth delay
4645	MYO5B	HP:0006580	Portal fibrosis
4645	MYO5B	HP:0002908	Conjugated hyperbilirubinemia
4645	MYO5B	HP:0011106	Hypovolemia
4645	MYO5B	HP:0001744	Splenomegaly
4646	MYO6	HP:0000007	Autosomal recessive inheritance
4646	MYO6	HP:0000006	Autosomal dominant inheritance
4646	MYO6	HP:0007642	Congenital stationary night blindness
4646	MYO6	HP:0003577	Congenital onset
4646	MYO6	HP:0000408	Progressive sensorineural hearing impairment
4646	MYO6	HP:0000407	Sensorineural hearing impairment
4646	MYO6	HP:0001751	Abnormal vestibular function
4646	MYO6	HP:0000510	Rod-cone dystrophy
4647	MYO7A	HP:0008619	Bilateral sensorineural hearing impairment
4647	MYO7A	HP:0008555	Absent vestibular function
4647	MYO7A	HP:0001270	Motor delay
4647	MYO7A	HP:0001251	Ataxia
4647	MYO7A	HP:0001249	Intellectual disability
4647	MYO7A	HP:0001263	Global developmental delay
4647	MYO7A	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4647	MYO7A	HP:0000007	Autosomal recessive inheritance
4647	MYO7A	HP:0000006	Autosomal dominant inheritance
4647	MYO7A	HP:0012157	Subcortical cerebral atrophy
4647	MYO7A	HP:0002120	Cerebral cortical atrophy
4647	MYO7A	HP:0003593	Infantile onset
4647	MYO7A	HP:0003577	Congenital onset
4647	MYO7A	HP:0100753	Schizophrenia
4647	MYO7A	HP:0002321	Vertigo
4647	MYO7A	HP:0008499	High hypermetropia
4647	MYO7A	HP:0000639	Nystagmus
4647	MYO7A	HP:0000682	Abnormal dental enamel morphology
4647	MYO7A	HP:0000691	Microdontia
4647	MYO7A	HP:0000662	Nyctalopia
4647	MYO7A	HP:0000670	Carious teeth
4647	MYO7A	HP:0000738	Hallucinations
4647	MYO7A	HP:0000739	Anxiety
4647	MYO7A	HP:0000716	Depression
4647	MYO7A	HP:0007730	Iris hypopigmentation
4647	MYO7A	HP:0011073	Abnormality of dental color
4647	MYO7A	HP:0012377	Hemianopia
4647	MYO7A	HP:0000359	Abnormality of the inner ear
4647	MYO7A	HP:0000375	Abnormal cochlea morphology
4647	MYO7A	HP:0000407	Sensorineural hearing impairment
4647	MYO7A	HP:0001751	Abnormal vestibular function
4647	MYO7A	HP:0001756	Vestibular hypofunction
4647	MYO7A	HP:0000518	Cataract
4647	MYO7A	HP:0000510	Rod-cone dystrophy
4647	MYO7A	HP:0000512	Abnormal electroretinogram
4647	MYO7A	HP:0000575	Scotoma
4647	MYO7A	HP:0000572	Visual loss
4647	MYO7A	HP:0000550	Undetectable electroretinogram
4647	MYO7A	HP:0000545	Myopia
4649	MYO9A	HP:0002421	Poor head control
4649	MYO9A	HP:0003701	Proximal muscle weakness
4649	MYO9A	HP:0001270	Motor delay
4649	MYO9A	HP:0001283	Bulbar palsy
4649	MYO9A	HP:0001284	Areflexia
4649	MYO9A	HP:0001250	Seizure
4649	MYO9A	HP:0001252	Hypotonia
4649	MYO9A	HP:0001251	Ataxia
4649	MYO9A	HP:0001249	Intellectual disability
4649	MYO9A	HP:0001265	Hyporeflexia
4649	MYO9A	HP:0002515	Waddling gait
4649	MYO9A	HP:0001374	Congenital hip dislocation
4649	MYO9A	HP:0001388	Joint laxity
4649	MYO9A	HP:0001324	Muscle weakness
4649	MYO9A	HP:0000007	Autosomal recessive inheritance
4649	MYO9A	HP:0025401	Staring gaze
4649	MYO9A	HP:0002751	Kyphoscoliosis
4649	MYO9A	HP:0002020	Gastroesophageal reflux
4649	MYO9A	HP:0002033	Poor suck
4649	MYO9A	HP:0004661	Frontalis muscle weakness
4649	MYO9A	HP:0003325	Limb-girdle muscle weakness
4649	MYO9A	HP:0002015	Dysphagia
4649	MYO9A	HP:0003306	Spinal rigidity
4649	MYO9A	HP:0003324	Generalized muscle weakness
4649	MYO9A	HP:0005943	Respiratory arrest
4649	MYO9A	HP:0002093	Respiratory insufficiency
4649	MYO9A	HP:0003388	Easy fatigability
4649	MYO9A	HP:0003473	Fatigable weakness
4649	MYO9A	HP:0003458	EMG: myopathic abnormalities
4649	MYO9A	HP:0002104	Apnea
4649	MYO9A	HP:0010536	Central sleep apnea
4649	MYO9A	HP:0003577	Congenital onset
4649	MYO9A	HP:0004885	Episodic respiratory distress
4649	MYO9A	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
4649	MYO9A	HP:0002205	Recurrent respiratory infections
4649	MYO9A	HP:0011968	Feeding difficulties
4649	MYO9A	HP:0002392	EEG with polyspike wave complexes
4649	MYO9A	HP:0003693	Distal amyotrophy
4649	MYO9A	HP:0002355	Difficulty walking
4649	MYO9A	HP:0008443	Neuropathic spinal arthropathy
4649	MYO9A	HP:0007178	Motor polyneuropathy
4649	MYO9A	HP:0000639	Nystagmus
4649	MYO9A	HP:0000651	Diplopia
4649	MYO9A	HP:0000602	Ophthalmoplegia
4649	MYO9A	HP:0009053	Distal lower limb muscle weakness
4649	MYO9A	HP:0000657	Oculomotor apraxia
4649	MYO9A	HP:0031936	Delayed ability to walk
4649	MYO9A	HP:0005684	Distal arthrogryposis
4649	MYO9A	HP:0000768	Pectus carinatum
4649	MYO9A	HP:0000750	Delayed speech and language development
4649	MYO9A	HP:0011469	Nasal regurgitation
4649	MYO9A	HP:0012801	Narrow jaw
4649	MYO9A	HP:0030842	Choking episodes
4649	MYO9A	HP:0010307	Stridor
4649	MYO9A	HP:0100285	EMG: impaired neuromuscular transmission
4649	MYO9A	HP:0000961	Cyanosis
4649	MYO9A	HP:0100295	Muscle fiber atrophy
4649	MYO9A	HP:0000276	Long face
4649	MYO9A	HP:0002804	Arthrogryposis multiplex congenita
4649	MYO9A	HP:0006380	Knee flexion contracture
4649	MYO9A	HP:0002882	Sudden episodic apnea
4649	MYO9A	HP:0000218	High palate
4649	MYO9A	HP:0001561	Polyhydramnios
4649	MYO9A	HP:0001558	Decreased fetal movement
4649	MYO9A	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
4649	MYO9A	HP:0002870	Obstructive sleep apnea
4649	MYO9A	HP:0030051	Tip-toe gait
4649	MYO9A	HP:0012385	Camptodactyly
4649	MYO9A	HP:0030208	Anti-acetylcholine receptor antibody positivity
4649	MYO9A	HP:0001618	Dysphonia
4649	MYO9A	HP:0001612	Weak cry
4649	MYO9A	HP:0001611	Hypernasal speech
4649	MYO9A	HP:0000369	Low-set ears
4649	MYO9A	HP:0000308	Microretrognathia
4649	MYO9A	HP:0000407	Sensorineural hearing impairment
4649	MYO9A	HP:0000467	Neck muscle weakness
4649	MYO9A	HP:0001760	Abnormal foot morphology
4649	MYO9A	HP:0001762	Talipes equinovarus
4649	MYO9A	HP:0001761	Pes cavus
4649	MYO9A	HP:0000508	Ptosis
4649	MYO9A	HP:0000565	Esotropia
4653	MYOC	HP:0001138	Optic neuropathy
4653	MYOC	HP:0025326	Retinal arterial occlusion
4653	MYOC	HP:0000006	Autosomal dominant inheritance
4653	MYOC	HP:0012108	Open angle glaucoma
4653	MYOC	HP:0001052	Nevus flammeus
4653	MYOC	HP:0000603	Central scotoma
4653	MYOC	HP:0012636	Retinal vein occlusion
4653	MYOC	HP:0012796	Increased cup-to-disc ratio
4653	MYOC	HP:0007854	Glaucomatous visual field defect
4653	MYOC	HP:0011003	High myopia
4653	MYOC	HP:0007905	Abnormal iris vasculature
4653	MYOC	HP:0007906	Ocular hypertension
4653	MYOC	HP:0007994	Peripheral visual field loss
4653	MYOC	HP:0000525	Abnormality iris morphology
4653	MYOC	HP:0000505	Visual impairment
4653	MYOC	HP:0000501	Glaucoma
4653	MYOC	HP:0000593	Abnormal anterior chamber morphology
4653	MYOC	HP:0000587	Abnormal optic nerve morphology
4653	MYOC	HP:0000572	Visual loss
4653	MYOC	HP:0000541	Retinal detachment
4653	MYOC	HP:0012511	Temporal optic disc pallor
4653	MYOC	HP:0000545	Myopia
4654	MYOD1	HP:0001188	Hand clenching
4654	MYOD1	HP:0001182	Tapered finger
4654	MYOD1	HP:0009891	Underdeveloped supraorbital ridges
4654	MYOD1	HP:0003700	Generalized amyotrophy
4654	MYOD1	HP:0001290	Generalized hypotonia
4654	MYOD1	HP:0001270	Motor delay
4654	MYOD1	HP:0001262	Excessive daytime somnolence
4654	MYOD1	HP:0000089	Renal hypoplasia
4654	MYOD1	HP:0000074	Ureteropelvic junction obstruction
4654	MYOD1	HP:0000028	Cryptorchidism
4654	MYOD1	HP:0000007	Autosomal recessive inheritance
4654	MYOD1	HP:0001305	Dandy-Walker malformation
4654	MYOD1	HP:0002650	Scoliosis
4654	MYOD1	HP:0000175	Cleft palate
4654	MYOD1	HP:0000126	Hydronephrosis
4654	MYOD1	HP:0002089	Pulmonary hypoplasia
4654	MYOD1	HP:0002093	Respiratory insufficiency
4654	MYOD1	HP:0010489	Absent palmar crease
4654	MYOD1	HP:0100490	Camptodactyly of finger
4654	MYOD1	HP:0010557	Overlapping fingers
4654	MYOD1	HP:0011947	Respiratory tract infection
4654	MYOD1	HP:0001059	Pterygium
4654	MYOD1	HP:0002375	Hypokinesia
4654	MYOD1	HP:0010804	Tented upper lip vermilion
4654	MYOD1	HP:0002304	Akinesia
4654	MYOD1	HP:0000689	Dental malocclusion
4654	MYOD1	HP:0001989	Fetal akinesia sequence
4654	MYOD1	HP:0005684	Distal arthrogryposis
4654	MYOD1	HP:0000767	Pectus excavatum
4654	MYOD1	HP:0000774	Narrow chest
4654	MYOD1	HP:0009110	Diaphragmatic eventration
4654	MYOD1	HP:0003198	Myopathy
4654	MYOD1	HP:0012801	Narrow jaw
4654	MYOD1	HP:0002828	Multiple joint contractures
4654	MYOD1	HP:0030084	Clinodactyly
4654	MYOD1	HP:0002804	Arthrogryposis multiplex congenita
4654	MYOD1	HP:0000218	High palate
4654	MYOD1	HP:0001561	Polyhydramnios
4654	MYOD1	HP:0001531	Failure to thrive in infancy
4654	MYOD1	HP:0001511	Intrauterine growth retardation
4654	MYOD1	HP:0005245	Intestinal hypoplasia
4654	MYOD1	HP:0000358	Posteriorly rotated ears
4654	MYOD1	HP:0000369	Low-set ears
4654	MYOD1	HP:0000341	Narrow forehead
4654	MYOD1	HP:0000343	Long philtrum
4654	MYOD1	HP:0000348	High forehead
4654	MYOD1	HP:0000347	Micrognathia
4654	MYOD1	HP:0000319	Smooth philtrum
4654	MYOD1	HP:0000316	Hypertelorism
4654	MYOD1	HP:0000331	Short chin
4654	MYOD1	HP:0000325	Triangular face
4654	MYOD1	HP:0000303	Mandibular prognathia
4654	MYOD1	HP:0005280	Depressed nasal bridge
4654	MYOD1	HP:0000476	Cystic hygroma
4654	MYOD1	HP:0000494	Downslanted palpebral fissures
4654	MYOD1	HP:0001845	Overlapping toe
4654	MYOD1	HP:0000520	Proptosis
4654	MYOD1	HP:0000506	Telecanthus
4654	MYOD1	HP:0000508	Ptosis
4654	MYOD1	HP:0000565	Esotropia
4659	PPP1R12A	HP:0001159	Syndactyly
4659	PPP1R12A	HP:0010941	Aplasia of the nasal bone
4659	PPP1R12A	HP:0003762	Uterus didelphys
4659	PPP1R12A	HP:0001274	Agenesis of corpus callosum
4659	PPP1R12A	HP:0001263	Global developmental delay
4659	PPP1R12A	HP:0008665	Clitoral hypertrophy
4659	PPP1R12A	HP:0000041	Chordee
4659	PPP1R12A	HP:0000054	Micropenis
4659	PPP1R12A	HP:0001387	Joint stiffness
4659	PPP1R12A	HP:0000047	Hypospadias
4659	PPP1R12A	HP:0001360	Holoprosencephaly
4659	PPP1R12A	HP:0000028	Cryptorchidism
4659	PPP1R12A	HP:0001331	Absent septum pellucidum
4659	PPP1R12A	HP:0000006	Autosomal dominant inheritance
4659	PPP1R12A	HP:0000133	Gonadal dysgenesis
4659	PPP1R12A	HP:0002751	Kyphoscoliosis
4659	PPP1R12A	HP:0010464	Streak ovary
4659	PPP1R12A	HP:0002126	Polymicrogyria
4659	PPP1R12A	HP:0100779	Urogenital sinus anomaly
4659	PPP1R12A	HP:0002282	Gray matter heterotopia
4659	PPP1R12A	HP:0007018	Attention deficit hyperactivity disorder
4659	PPP1R12A	HP:0002308	Chiari malformation
4659	PPP1R12A	HP:0006989	Dysplastic corpus callosum
4659	PPP1R12A	HP:0012745	Short palpebral fissure
4659	PPP1R12A	HP:0003196	Short nose
4659	PPP1R12A	HP:0030716	Acrania
4659	PPP1R12A	HP:0000286	Epicanthus
4659	PPP1R12A	HP:0000256	Macrocephaly
4659	PPP1R12A	HP:0000276	Long face
4659	PPP1R12A	HP:0001539	Omphalocele
4659	PPP1R12A	HP:0030048	Colpocephaly
4659	PPP1R12A	HP:0012368	Flat face
4659	PPP1R12A	HP:0005235	Jejunal atresia
4659	PPP1R12A	HP:0000356	Abnormality of the outer ear
4659	PPP1R12A	HP:0000369	Low-set ears
4659	PPP1R12A	HP:0000343	Long philtrum
4659	PPP1R12A	HP:0000347	Micrognathia
4659	PPP1R12A	HP:0000316	Hypertelorism
4659	PPP1R12A	HP:0000483	Astigmatism
4659	PPP1R12A	HP:0000486	Strabismus
4659	PPP1R12A	HP:0011102	Ileal atresia
4659	PPP1R12A	HP:0000411	Protruding ear
4659	PPP1R12A	HP:0005484	Secondary microcephaly
4659	PPP1R12A	HP:0000508	Ptosis
4659	PPP1R12A	HP:0000505	Visual impairment
4659	PPP1R12A	HP:0000582	Upslanted palpebral fissure
4659	PPP1R12A	HP:0000540	Hypermetropia
4659	PPP1R12A	HP:0000537	Epicanthus inversus
4665	NAB2	HP:0002585	Abnormality of the peritoneum
4665	NAB2	HP:0008775	Abnormal prostate morphology
4665	NAB2	HP:0000016	Urinary retention
4665	NAB2	HP:0002664	Neoplasm
4665	NAB2	HP:0012125	Prostate cancer
4665	NAB2	HP:0002019	Constipation
4665	NAB2	HP:0100527	Neoplasia of the pleura
4665	NAB2	HP:0100526	Neoplasm of the lung
4665	NAB2	HP:0003419	Low back pain
4665	NAB2	HP:0100650	Vaginal neoplasm
4665	NAB2	HP:0010784	Uterine neoplasm
4665	NAB2	HP:0010787	Genital neoplasm
4665	NAB2	HP:0004912	Hypophosphatemic rickets
4665	NAB2	HP:0007185	Loss of consciousness
4665	NAB2	HP:0000651	Diplopia
4665	NAB2	HP:0001943	Hypoglycemia
4665	NAB2	HP:0001945	Fever
4665	NAB2	HP:0001988	Recurrent hypoglycemia
4665	NAB2	HP:0004375	Neoplasm of the nervous system
4665	NAB2	HP:0030795	Reduced C-peptide level
4665	NAB2	HP:0040216	Hypoinsulinemia
4665	NAB2	HP:0045026	Abnormal mediastinum morphology
4665	NAB2	HP:0000290	Abnormality of the forehead
4665	NAB2	HP:0002896	Neoplasm of the liver
4665	NAB2	HP:0031501	Pelvic mass
4665	NAB2	HP:0012378	Fatigue
4665	NAB2	HP:0031459	Soft tissue neoplasm
4665	NAB2	HP:0030166	Night sweats
4665	NAB2	HP:0001824	Weight loss
4668	NAGA	HP:0002460	Distal muscle weakness
4668	NAGA	HP:0007256	Abnormal pyramidal sign
4668	NAGA	HP:0010864	Intellectual disability, severe
4668	NAGA	HP:0003700	Generalized amyotrophy
4668	NAGA	HP:0001290	Generalized hypotonia
4668	NAGA	HP:0001256	Intellectual disability, mild
4668	NAGA	HP:0001250	Seizure
4668	NAGA	HP:0001252	Hypotonia
4668	NAGA	HP:0001249	Intellectual disability
4668	NAGA	HP:0001263	Global developmental delay
4668	NAGA	HP:0001257	Spasticity
4668	NAGA	HP:0007428	Telangiectasia of the oral mucosa
4668	NAGA	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4668	NAGA	HP:0032325	Lacunar stroke
4668	NAGA	HP:0001347	Hyperreflexia
4668	NAGA	HP:0001324	Muscle weakness
4668	NAGA	HP:0000007	Autosomal recessive inheritance
4668	NAGA	HP:0001336	Myoclonus
4668	NAGA	HP:0000179	Thick lower lip vermilion
4668	NAGA	HP:0001482	Subcutaneous nodule
4668	NAGA	HP:0003355	Aminoaciduria
4668	NAGA	HP:0100543	Cognitive impairment
4668	NAGA	HP:0002071	Abnormality of extrapyramidal motor function
4668	NAGA	HP:0002059	Cerebral atrophy
4668	NAGA	HP:0100585	Telangiectasia of the skin
4668	NAGA	HP:0003477	Peripheral axonal neuropathy
4668	NAGA	HP:0003461	Increased urinary O-linked sialopeptides
4668	NAGA	HP:0003409	Distal sensory impairment of all modalities
4668	NAGA	HP:0003401	Paresthesia
4668	NAGA	HP:0003593	Infantile onset
4668	NAGA	HP:0002240	Hepatomegaly
4668	NAGA	HP:0100704	Cerebral visual impairment
4668	NAGA	HP:0003581	Adult onset
4668	NAGA	HP:0002363	Abnormal brainstem morphology
4668	NAGA	HP:0002376	Developmental regression
4668	NAGA	HP:0001009	Telangiectasia
4668	NAGA	HP:0001004	Lymphedema
4668	NAGA	HP:0002321	Vertigo
4668	NAGA	HP:0200034	Papule
4668	NAGA	HP:0009830	Peripheral neuropathy
4668	NAGA	HP:0001071	Angiokeratoma corporis diffusum
4668	NAGA	HP:0006812	White mater abnormalities in the posterior periventricular region
4668	NAGA	HP:0000639	Nystagmus
4668	NAGA	HP:0000648	Optic atrophy
4668	NAGA	HP:0004374	Hemiplegia/hemiparesis
4668	NAGA	HP:0000763	Sensory neuropathy
4668	NAGA	HP:0000717	Autism
4668	NAGA	HP:0040078	Axonal degeneration
4668	NAGA	HP:0000958	Dry skin
4668	NAGA	HP:0000967	Petechiae
4668	NAGA	HP:0000962	Hyperkeratosis
4668	NAGA	HP:0000938	Osteopenia
4668	NAGA	HP:0000280	Coarse facial features
4668	NAGA	HP:0007759	Opacification of the corneal stroma
4668	NAGA	HP:0000214	Lip telangiectasia
4668	NAGA	HP:0002936	Distal sensory impairment
4668	NAGA	HP:0000365	Hearing impairment
4668	NAGA	HP:0000360	Tinnitus
4668	NAGA	HP:0001640	Cardiomegaly
4668	NAGA	HP:0001639	Hypertrophic cardiomyopathy
4668	NAGA	HP:0000407	Sensorineural hearing impairment
4668	NAGA	HP:0005280	Depressed nasal bridge
4668	NAGA	HP:0000486	Strabismus
4668	NAGA	HP:0012471	Thick vermilion border
4668	NAGA	HP:0025710	Late young adult onset
4668	NAGA	HP:0000518	Cataract
4668	NAGA	HP:0000503	Tortuosity of conjunctival vessels
4669	NAGLU	HP:0002495	Impaired vibratory sensation
4669	NAGLU	HP:0010871	Sensory ataxia
4669	NAGLU	HP:0001250	Seizure
4669	NAGLU	HP:0001249	Intellectual disability
4669	NAGLU	HP:0001265	Hyporeflexia
4669	NAGLU	HP:0001387	Joint stiffness
4669	NAGLU	HP:0001324	Muscle weakness
4669	NAGLU	HP:0000007	Autosomal recessive inheritance
4669	NAGLU	HP:0000006	Autosomal dominant inheritance
4669	NAGLU	HP:0002788	Recurrent upper respiratory tract infections
4669	NAGLU	HP:0002014	Diarrhea
4669	NAGLU	HP:0003309	Ovoid thoracolumbar vertebrae
4669	NAGLU	HP:0002159	Heparan sulfate excretion in urine
4669	NAGLU	HP:0003401	Paresthesia
4669	NAGLU	HP:0003596	Middle age onset
4669	NAGLU	HP:0002240	Hepatomegaly
4669	NAGLU	HP:0003584	Late onset
4669	NAGLU	HP:0002208	Coarse hair
4669	NAGLU	HP:0002360	Sleep disturbance
4669	NAGLU	HP:0002344	Progressive neurologic deterioration
4669	NAGLU	HP:0003676	Progressive
4669	NAGLU	HP:0001007	Hirsutism
4669	NAGLU	HP:0009830	Peripheral neuropathy
4669	NAGLU	HP:0003621	Juvenile onset
4669	NAGLU	HP:0000639	Nystagmus
4669	NAGLU	HP:0000664	Synophrys
4669	NAGLU	HP:0000752	Hyperactivity
4669	NAGLU	HP:0000718	Aggressive behavior
4669	NAGLU	HP:0011462	Young adult onset
4669	NAGLU	HP:0000900	Thickened ribs
4669	NAGLU	HP:0000943	Dysostosis multiplex
4669	NAGLU	HP:0000280	Coarse facial features
4669	NAGLU	HP:0000250	Dense calvaria
4669	NAGLU	HP:0002936	Distal sensory impairment
4669	NAGLU	HP:0000365	Hearing impairment
4669	NAGLU	HP:0001670	Asymmetric septal hypertrophy
4669	NAGLU	HP:0001640	Cardiomegaly
4669	NAGLU	HP:0001744	Splenomegaly
4669	NAGLU	HP:0012514	Lower limb pain
4677	NARS1	HP:0001166	Arachnodactyly
4677	NARS1	HP:0001159	Syndactyly
4677	NARS1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
4677	NARS1	HP:0001290	Generalized hypotonia
4677	NARS1	HP:0001276	Hypertonia
4677	NARS1	HP:0001251	Ataxia
4677	NARS1	HP:0001249	Intellectual disability
4677	NARS1	HP:0001265	Hyporeflexia
4677	NARS1	HP:0001263	Global developmental delay
4677	NARS1	HP:0007359	Focal-onset seizure
4677	NARS1	HP:0001371	Flexion contracture
4677	NARS1	HP:0025336	Delayed ability to sit
4677	NARS1	HP:0001347	Hyperreflexia
4677	NARS1	HP:0000007	Autosomal recessive inheritance
4677	NARS1	HP:0001337	Tremor
4677	NARS1	HP:0000006	Autosomal dominant inheritance
4677	NARS1	HP:0001336	Myoclonus
4677	NARS1	HP:0001302	Pachygyria
4677	NARS1	HP:0002650	Scoliosis
4677	NARS1	HP:0002066	Gait ataxia
4677	NARS1	HP:0002079	Hypoplasia of the corpus callosum
4677	NARS1	HP:0002188	Delayed CNS myelination
4677	NARS1	HP:0002265	Large fleshy ears
4677	NARS1	HP:0003593	Infantile onset
4677	NARS1	HP:0003577	Congenital onset
4677	NARS1	HP:0100702	Arachnoid cyst
4677	NARS1	HP:0010830	Impaired tactile sensation
4677	NARS1	HP:0009830	Peripheral neuropathy
4677	NARS1	HP:0000601	Hypotelorism
4677	NARS1	HP:0000687	Widely spaced teeth
4677	NARS1	HP:0031936	Delayed ability to walk
4677	NARS1	HP:0000767	Pectus excavatum
4677	NARS1	HP:0000750	Delayed speech and language development
4677	NARS1	HP:0012766	Widened cerebral subarachnoid space
4677	NARS1	HP:0000278	Retrognathia
4677	NARS1	HP:0030084	Clinodactyly
4677	NARS1	HP:0000252	Microcephaly
4677	NARS1	HP:0000396	Overfolded helix
4677	NARS1	HP:0002942	Thoracic kyphosis
4677	NARS1	HP:0000369	Low-set ears
4677	NARS1	HP:0000337	Broad forehead
4677	NARS1	HP:0032794	Myoclonic seizure
4677	NARS1	HP:0000316	Hypertelorism
4677	NARS1	HP:0012444	Brain atrophy
4677	NARS1	HP:0012430	Cerebral white matter hypoplasia
4677	NARS1	HP:0001761	Pes cavus
4677	NARS1	HP:0000582	Upslanted palpebral fissure
4680	CEACAM6	HP:0032261	Nontuberculous mycobacterial pulmonary infection
4680	CEACAM6	HP:0002570	Steatorrhea
4680	CEACAM6	HP:0032342	Reduced forced expiratory volume in one second
4680	CEACAM6	HP:0001392	Abnormality of the liver
4680	CEACAM6	HP:0001394	Cirrhosis
4680	CEACAM6	HP:0002726	Recurrent Staphylococcus aureus infections
4680	CEACAM6	HP:0002724	Recurrent Aspergillus infections
4680	CEACAM6	HP:0002024	Malabsorption
4680	CEACAM6	HP:0002020	Gastroesophageal reflux
4680	CEACAM6	HP:0002035	Rectal prolapse
4680	CEACAM6	HP:0002099	Asthma
4680	CEACAM6	HP:0100582	Nasal polyposis
4680	CEACAM6	HP:0002110	Bronchiectasis
4680	CEACAM6	HP:0002107	Pneumothorax
4680	CEACAM6	HP:0002105	Hemoptysis
4680	CEACAM6	HP:0002205	Recurrent respiratory infections
4680	CEACAM6	HP:0000739	Anxiety
4680	CEACAM6	HP:0000716	Depression
4680	CEACAM6	HP:0000787	Nephrolithiasis
4680	CEACAM6	HP:0004401	Meconium ileus
4680	CEACAM6	HP:0012873	Absent vas deferens
4680	CEACAM6	HP:0045082	Decreased body mass index
4680	CEACAM6	HP:0000939	Osteoporosis
4680	CEACAM6	HP:0000938	Osteopenia
4680	CEACAM6	HP:0012236	Elevated sweat chloride
4680	CEACAM6	HP:0000246	Sinusitis
4680	CEACAM6	HP:0001508	Failure to thrive
4680	CEACAM6	HP:0002842	Recurrent Burkholderia cepacia infections
4680	CEACAM6	HP:0006536	Airway obstruction
4680	CEACAM6	HP:0002910	Elevated hepatic transaminase
4680	CEACAM6	HP:0000365	Hearing impairment
4680	CEACAM6	HP:0005376	Recurrent Haemophilus influenzae infections
4680	CEACAM6	HP:0001738	Exocrine pancreatic insufficiency
4683	NBN	HP:0002488	Acute leukemia
4683	NBN	HP:0001268	Mental deterioration
4683	NBN	HP:0001249	Intellectual disability
4683	NBN	HP:0010982	Polygenic inheritance
4683	NBN	HP:0010976	B lymphocytopenia
4683	NBN	HP:0002664	Neoplasm
4683	NBN	HP:0001324	Muscle weakness
4683	NBN	HP:0000010	Recurrent urinary tract infections
4683	NBN	HP:0000007	Autosomal recessive inheritance
4683	NBN	HP:0002665	Lymphoma
4683	NBN	HP:0012190	T-cell lymphoma
4683	NBN	HP:0012191	B-cell lymphoma
4683	NBN	HP:0000175	Cleft palate
4683	NBN	HP:0012125	Prostate cancer
4683	NBN	HP:0001480	Freckling
4683	NBN	HP:0000126	Hydronephrosis
4683	NBN	HP:0001428	Somatic mutation
4683	NBN	HP:0002025	Anal stenosis
4683	NBN	HP:0002023	Anal atresia
4683	NBN	HP:0004691	2-3 toe syndactyly
4683	NBN	HP:0002028	Chronic diarrhea
4683	NBN	HP:0002002	Deep philtrum
4683	NBN	HP:0002014	Diarrhea
4683	NBN	HP:0100515	Pollakisuria
4683	NBN	HP:0004798	Recurrent infection of the gastrointestinal tract
4683	NBN	HP:0002110	Bronchiectasis
4683	NBN	HP:0002180	Neurodegeneration
4683	NBN	HP:0008209	Premature ovarian insufficiency
4683	NBN	HP:0002269	Abnormality of neuronal migration
4683	NBN	HP:0003577	Congenital onset
4683	NBN	HP:0002205	Recurrent respiratory infections
4683	NBN	HP:0009733	Glioma
4683	NBN	HP:0007018	Attention deficit hyperactivity disorder
4683	NBN	HP:0010620	Malar prominence
4683	NBN	HP:0100615	Ovarian neoplasm
4683	NBN	HP:0005528	Bone marrow hypocellularity
4683	NBN	HP:0001915	Aplastic anemia
4683	NBN	HP:0011362	Abnormal hair quantity
4683	NBN	HP:0004322	Short stature
4683	NBN	HP:0003002	Breast carcinoma
4683	NBN	HP:0004326	Cachexia
4683	NBN	HP:0005602	Progressive vitiligo
4683	NBN	HP:0003011	Abnormality of the musculature
4683	NBN	HP:0000752	Hyperactivity
4683	NBN	HP:0012732	Anorectal anomaly
4683	NBN	HP:0000750	Delayed speech and language development
4683	NBN	HP:0003189	Long nose
4683	NBN	HP:0100335	Non-midline cleft lip
4683	NBN	HP:0003220	Abnormality of chromosome stability
4683	NBN	HP:0003202	Skeletal muscle atrophy
4683	NBN	HP:0000992	Cutaneous photosensitivity
4683	NBN	HP:0000957	Cafe-au-lait spot
4683	NBN	HP:0000286	Epicanthus
4683	NBN	HP:0000278	Retrognathia
4683	NBN	HP:0000294	Low anterior hairline
4683	NBN	HP:0001595	Abnormal hair morphology
4683	NBN	HP:0000265	Mastoiditis
4683	NBN	HP:0000271	Abnormality of the face
4683	NBN	HP:0000252	Microcephaly
4683	NBN	HP:0000246	Sinusitis
4683	NBN	HP:0002878	Respiratory failure
4683	NBN	HP:0002894	Neoplasm of the pancreas
4683	NBN	HP:0002885	Medulloblastoma
4683	NBN	HP:0002861	Melanoma
4683	NBN	HP:0002859	Rhabdomyosarcoma
4683	NBN	HP:0000204	Cleft upper lip
4683	NBN	HP:0002837	Recurrent bronchitis
4683	NBN	HP:0001511	Intrauterine growth retardation
4683	NBN	HP:0007814	Retinal pigment epithelial mottling
4683	NBN	HP:0011027	Abnormal fallopian tube morphology
4683	NBN	HP:0006532	Recurrent pneumonia
4683	NBN	HP:0000364	Hearing abnormality
4683	NBN	HP:0000340	Sloping forehead
4683	NBN	HP:0000347	Micrognathia
4683	NBN	HP:0002961	Dysgammaglobulinemia
4683	NBN	HP:0000403	Recurrent otitis media
4683	NBN	HP:0000400	Macrotia
4683	NBN	HP:0005280	Depressed nasal bridge
4683	NBN	HP:0000492	Abnormal eyelid morphology
4683	NBN	HP:0000470	Short neck
4683	NBN	HP:0000453	Choanal atresia
4683	NBN	HP:0000448	Prominent nose
4683	NBN	HP:0000444	Convex nasal ridge
4683	NBN	HP:0000426	Prominent nasal bridge
4683	NBN	HP:0005425	Recurrent sinopulmonary infections
4683	NBN	HP:0005403	T lymphocytopenia
4683	NBN	HP:0030406	Primary peritoneal carcinoma
4683	NBN	HP:0006721	Acute lymphoblastic leukemia
4683	NBN	HP:0000524	Conjunctival telangiectasia
4683	NBN	HP:0001852	Sandal gap
4683	NBN	HP:0000582	Upslanted palpebral fissure
4683	NBN	HP:0001890	Autoimmune hemolytic anemia
4683	NBN	HP:0001878	Hemolytic anemia
4683	NBN	HP:0001873	Thrombocytopenia
4688	NCF2	HP:0100806	Sepsis
4688	NCF2	HP:0001287	Meningitis
4688	NCF2	HP:0002575	Tracheoesophageal fistula
4688	NCF2	HP:0007417	Discoid lupus rash
4688	NCF2	HP:0000007	Autosomal recessive inheritance
4688	NCF2	HP:0002754	Osteomyelitis
4688	NCF2	HP:0002740	Recurrent E. coli infections
4688	NCF2	HP:0002741	Recurrent Serratia marcescens infections
4688	NCF2	HP:0002742	Recurrent Klebsiella infections
4688	NCF2	HP:0002716	Lymphadenopathy
4688	NCF2	HP:0002726	Recurrent Staphylococcus aureus infections
4688	NCF2	HP:0002724	Recurrent Aspergillus infections
4688	NCF2	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes
4688	NCF2	HP:0002721	Immunodeficiency
4688	NCF2	HP:0002024	Malabsorption
4688	NCF2	HP:0002021	Pyloric stenosis
4688	NCF2	HP:0100523	Liver abscess
4688	NCF2	HP:0100533	Inflammatory abnormality of the eye
4688	NCF2	HP:0002240	Hepatomegaly
4688	NCF2	HP:0002205	Recurrent respiratory infections
4688	NCF2	HP:0100721	Mediastinal lymphadenopathy
4688	NCF2	HP:0001034	Hypermelanotic macule
4688	NCF2	HP:0100658	Cellulitis
4688	NCF2	HP:0200042	Skin ulcer
4688	NCF2	HP:0003621	Juvenile onset
4688	NCF2	HP:0001945	Fever
4688	NCF2	HP:0012733	Macule
4688	NCF2	HP:0003206	Decreased activity of NADPH oxidase
4688	NCF2	HP:0003203	Impaired oxidative burst
4688	NCF2	HP:0000976	Eczematoid dermatitis
4688	NCF2	HP:0000992	Cutaneous photosensitivity
4688	NCF2	HP:0000964	Eczema
4688	NCF2	HP:0000246	Sinusitis
4688	NCF2	HP:0000230	Gingivitis
4688	NCF2	HP:0002840	Lymphadenitis
4688	NCF2	HP:0002842	Recurrent Burkholderia cepacia infections
4688	NCF2	HP:0006510	Chronic pulmonary obstruction
4688	NCF2	HP:0000388	Otitis media
4688	NCF2	HP:0005224	Rectal abscess
4688	NCF2	HP:0006532	Recurrent pneumonia
4688	NCF2	HP:0002955	Granulomatosis
4688	NCF2	HP:0001744	Splenomegaly
4688	NCF2	HP:0005406	Recurrent bacterial skin infections
4688	NCF2	HP:0001874	Abnormality of neutrophils
4689	NCF4	HP:0100806	Sepsis
4689	NCF4	HP:0001287	Meningitis
4689	NCF4	HP:0002583	Colitis
4689	NCF4	HP:0002575	Tracheoesophageal fistula
4689	NCF4	HP:0000007	Autosomal recessive inheritance
4689	NCF4	HP:0002719	Recurrent infections
4689	NCF4	HP:0002024	Malabsorption
4689	NCF4	HP:0002021	Pyloric stenosis
4689	NCF4	HP:0002027	Abdominal pain
4689	NCF4	HP:0002014	Diarrhea
4689	NCF4	HP:0100523	Liver abscess
4689	NCF4	HP:0100533	Inflammatory abnormality of the eye
4689	NCF4	HP:0002240	Hepatomegaly
4689	NCF4	HP:0003565	Elevated erythrocyte sedimentation rate
4689	NCF4	HP:0002205	Recurrent respiratory infections
4689	NCF4	HP:0100721	Mediastinal lymphadenopathy
4689	NCF4	HP:0001034	Hypermelanotic macule
4689	NCF4	HP:0200042	Skin ulcer
4689	NCF4	HP:0001945	Fever
4689	NCF4	HP:0012733	Macule
4689	NCF4	HP:0011463	Childhood onset
4689	NCF4	HP:0000992	Cutaneous photosensitivity
4689	NCF4	HP:0000964	Eczema
4689	NCF4	HP:0000246	Sinusitis
4689	NCF4	HP:0000230	Gingivitis
4689	NCF4	HP:0006510	Chronic pulmonary obstruction
4689	NCF4	HP:0000388	Otitis media
4689	NCF4	HP:0005218	Anoperineal fistula
4689	NCF4	HP:0011127	Perioral eczema
4689	NCF4	HP:0011108	Recurrent sinusitis
4689	NCF4	HP:0011107	Recurrent aphthous stomatitis
4689	NCF4	HP:0001744	Splenomegaly
4689	NCF4	HP:0011227	Elevated circulating C-reactive protein concentration
4689	NCF4	HP:0001874	Abnormality of neutrophils
4692	NDN	HP:0025160	Abnormal temper tantrums
4692	NDN	HP:0001256	Intellectual disability, mild
4692	NDN	HP:0001250	Seizure
4692	NDN	HP:0001252	Hypotonia
4692	NDN	HP:0002578	Gastroparesis
4692	NDN	HP:0002591	Polyphagia
4692	NDN	HP:0001263	Global developmental delay
4692	NDN	HP:0008770	Obsessive-compulsive trait
4692	NDN	HP:0008734	Decreased testicular size
4692	NDN	HP:0000064	Hypoplastic labia minora
4692	NDN	HP:0000060	Clitoral hypoplasia
4692	NDN	HP:0000044	Hypogonadotropic hypogonadism
4692	NDN	HP:0000046	Small scrotum
4692	NDN	HP:0001385	Hip dysplasia
4692	NDN	HP:0000028	Cryptorchidism
4692	NDN	HP:0008872	Feeding difficulties in infancy
4692	NDN	HP:0031169	Postterm pregnancy
4692	NDN	HP:0001328	Specific learning disability
4692	NDN	HP:0002650	Scoliosis
4692	NDN	HP:0001319	Neonatal hypotonia
4692	NDN	HP:0031100	Decreased inhibin B level
4692	NDN	HP:0012166	Skin-picking
4692	NDN	HP:0012104	Parietal cortical atrophy
4692	NDN	HP:0012105	Occipital cortical atrophy
4692	NDN	HP:0002714	Downturned corners of mouth
4692	NDN	HP:0011734	Central adrenal insufficiency
4692	NDN	HP:0011787	Central hypothyroidism
4692	NDN	HP:0002119	Ventriculomegaly
4692	NDN	HP:0100716	Self-injurious behavior
4692	NDN	HP:0002205	Recurrent respiratory infections
4692	NDN	HP:0100739	Bulimia
4692	NDN	HP:0010627	Anterior pituitary hypoplasia
4692	NDN	HP:0002360	Sleep disturbance
4692	NDN	HP:0002342	Intellectual disability, moderate
4692	NDN	HP:0001010	Hypopigmentation of the skin
4692	NDN	HP:0010829	Impaired temperature sensation
4692	NDN	HP:0200055	Small hand
4692	NDN	HP:0010741	Pedal edema
4692	NDN	HP:0009088	Speech articulation difficulties
4692	NDN	HP:0004283	Narrow palm
4692	NDN	HP:0005599	Hypopigmentation of hair
4692	NDN	HP:0006889	Intellectual disability, borderline
4692	NDN	HP:0012650	Perisylvian polymicrogyria
4692	NDN	HP:0001999	Abnormal facial shape
4692	NDN	HP:0004322	Short stature
4692	NDN	HP:0000717	Autism
4692	NDN	HP:0000729	Autistic behavior
4692	NDN	HP:0000709	Psychosis
4692	NDN	HP:0000708	Atypical behavior
4692	NDN	HP:0000789	Infertility
4692	NDN	HP:0000786	Primary amenorrhea
4692	NDN	HP:0000819	Diabetes mellitus
4692	NDN	HP:0000826	Precocious puberty
4692	NDN	HP:0000824	Decreased response to growth hormone stimulation test
4692	NDN	HP:0000823	Delayed puberty
4692	NDN	HP:0003241	External genital hypoplasia
4692	NDN	HP:0000939	Osteoporosis
4692	NDN	HP:0000938	Osteopenia
4692	NDN	HP:0007730	Iris hypopigmentation
4692	NDN	HP:0000219	Thin upper lip vermilion
4692	NDN	HP:0001558	Decreased fetal movement
4692	NDN	HP:0002870	Obstructive sleep apnea
4692	NDN	HP:0002871	Central apnea
4692	NDN	HP:0001508	Failure to thrive
4692	NDN	HP:0001518	Small for gestational age
4692	NDN	HP:0001513	Obesity
4692	NDN	HP:0031507	Decreased circulating T4 concentration
4692	NDN	HP:0007874	Almond-shaped palpebral fissure
4692	NDN	HP:0004039	Abnormal ulnar metaphysis morphology
4692	NDN	HP:0000486	Strabismus
4692	NDN	HP:0001773	Short foot
4692	NDN	HP:0012411	Premature pubarche
4692	NDN	HP:0012412	Premature adrenarche
4692	NDN	HP:0000504	Abnormality of vision
4692	NDN	HP:0030339	Decreased circulating gonadotropin concentration
4693	NDP	HP:0001141	Severely reduced visual acuity
4693	NDP	HP:0001136	Retinal arteriolar tortuosity
4693	NDP	HP:0001104	Macular hypoplasia
4693	NDP	HP:0001103	Abnormal macular morphology
4693	NDP	HP:0009926	Epiphora
4693	NDP	HP:0009917	Persistent pupillary membrane
4693	NDP	HP:0001276	Hypertonia
4693	NDP	HP:0001270	Motor delay
4693	NDP	HP:0100832	Vitreous floaters
4693	NDP	HP:0001256	Intellectual disability, mild
4693	NDP	HP:0001250	Seizure
4693	NDP	HP:0001252	Hypotonia
4693	NDP	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4693	NDP	HP:0010978	Abnormality of immune system physiology
4693	NDP	HP:0001347	Hyperreflexia
4693	NDP	HP:0000028	Cryptorchidism
4693	NDP	HP:0001324	Muscle weakness
4693	NDP	HP:0002650	Scoliosis
4693	NDP	HP:0001493	Falciform retinal fold
4693	NDP	HP:0007685	Peripheral retinal avascularization
4693	NDP	HP:0007676	Hypoplasia of the iris
4693	NDP	HP:0007663	Reduced visual acuity
4693	NDP	HP:0012109	Angle closure glaucoma
4693	NDP	HP:0001419	X-linked recessive inheritance
4693	NDP	HP:0002076	Migraine
4693	NDP	HP:0002120	Cerebral cortical atrophy
4693	NDP	HP:0002169	Clonus
4693	NDP	HP:0011885	Hemorrhage of the eye
4693	NDP	HP:0003593	Infantile onset
4693	NDP	HP:0100718	Uterine rupture
4693	NDP	HP:0100716	Self-injurious behavior
4693	NDP	HP:0100742	Vascular neoplasm
4693	NDP	HP:0010662	Abnormality of the diencephalon
4693	NDP	HP:0007018	Attention deficit hyperactivity disorder
4693	NDP	HP:0002360	Sleep disturbance
4693	NDP	HP:0002376	Developmental regression
4693	NDP	HP:0001004	Lymphedema
4693	NDP	HP:0002353	EEG abnormality
4693	NDP	HP:0001083	Ectopia lentis
4693	NDP	HP:0100639	Erectile dysfunction
4693	NDP	HP:0010766	Ectopic calcification
4693	NDP	HP:0030503	Macular telangiectasia
4693	NDP	HP:0006887	Intellectual disability, progressive
4693	NDP	HP:0000639	Nystagmus
4693	NDP	HP:0000646	Amblyopia
4693	NDP	HP:0000648	Optic atrophy
4693	NDP	HP:0000647	Sclerocornea
4693	NDP	HP:0000618	Blindness
4693	NDP	HP:0000615	Abnormal pupil morphology
4693	NDP	HP:0000601	Hypotelorism
4693	NDP	HP:0030490	Exudative vitreoretinopathy
4693	NDP	HP:0030496	Macular exudate
4693	NDP	HP:0011342	Mild global developmental delay
4693	NDP	HP:0000667	Phthisis bulbi
4693	NDP	HP:0004327	Abnormal vitreous humor morphology
4693	NDP	HP:0004326	Cachexia
4693	NDP	HP:0030666	Retinal neovascularization
4693	NDP	HP:0004349	Reduced bone mineral density
4693	NDP	HP:0100014	Epiretinal membrane
4693	NDP	HP:0100012	Neoplasm of the eye
4693	NDP	HP:0000738	Hallucinations
4693	NDP	HP:0000737	Irritability
4693	NDP	HP:0000739	Anxiety
4693	NDP	HP:0000733	Abnormal repetitive mannerisms
4693	NDP	HP:0000718	Aggressive behavior
4693	NDP	HP:0000717	Autism
4693	NDP	HP:0000726	Dementia
4693	NDP	HP:0000709	Psychosis
4693	NDP	HP:0000708	Atypical behavior
4693	NDP	HP:0012795	Abnormal optic disc morphology
4693	NDP	HP:0011463	Childhood onset
4693	NDP	HP:0030744	Hyaloid vascular remnant and retrolental mass
4693	NDP	HP:0030743	Glial remnants anterior to the optic disc
4693	NDP	HP:0011532	Subretinal exudate
4693	NDP	HP:0011530	Retinal hole
4693	NDP	HP:0012841	Retinal vascular tortuosity
4693	NDP	HP:0000819	Diabetes mellitus
4693	NDP	HP:0000823	Delayed puberty
4693	NDP	HP:0040049	Macular edema
4693	NDP	HP:0008063	Aplasia/Hypoplasia of the lens
4693	NDP	HP:0008052	Retinal fold
4693	NDP	HP:0008053	Aplasia/Hypoplasia of the iris
4693	NDP	HP:0008046	Abnormal retinal vascular morphology
4693	NDP	HP:0007710	Peripheral vitreous opacities
4693	NDP	HP:0000272	Malar flattening
4693	NDP	HP:0007773	Vitreoretinopathy
4693	NDP	HP:0007759	Opacification of the corneal stroma
4693	NDP	HP:0012230	Rhegmatogenous retinal detachment
4693	NDP	HP:0000252	Microcephaly
4693	NDP	HP:0000233	Thin vermilion border
4693	NDP	HP:0001508	Failure to thrive
4693	NDP	HP:0001518	Small for gestational age
4693	NDP	HP:0007833	Anterior chamber synechiae
4693	NDP	HP:0031526	Subretinal fluid
4693	NDP	HP:0011039	Abnormal helix morphology
4693	NDP	HP:0000365	Hearing impairment
4693	NDP	HP:0000375	Abnormal cochlea morphology
4693	NDP	HP:0011003	High myopia
4693	NDP	HP:0001622	Premature birth
4693	NDP	HP:0007957	Corneal opacity
4693	NDP	HP:0007917	Tractional retinal detachment
4693	NDP	HP:0007902	Vitreous hemorrhage
4693	NDP	HP:0007989	Intraretinal exudate
4693	NDP	HP:0007968	Remnants of the hyaloid vascular system
4693	NDP	HP:0007973	Retinal dysplasia
4693	NDP	HP:0000407	Sensorineural hearing impairment
4693	NDP	HP:0000400	Macrotia
4693	NDP	HP:0005293	Venous insufficiency
4693	NDP	HP:0000486	Strabismus
4693	NDP	HP:0000482	Microcornea
4693	NDP	HP:0000490	Deeply set eye
4693	NDP	HP:0000446	Narrow nasal bridge
4693	NDP	HP:0000411	Protruding ear
4693	NDP	HP:0000518	Cataract
4693	NDP	HP:0000519	Developmental cataract
4693	NDP	HP:0000501	Glaucoma
4693	NDP	HP:0000594	Shallow anterior chamber
4693	NDP	HP:0000593	Abnormal anterior chamber morphology
4693	NDP	HP:0000557	Buphthalmos
4693	NDP	HP:0000555	Leukocoria
4693	NDP	HP:0000568	Microphthalmia
4693	NDP	HP:0000541	Retinal detachment
4693	NDP	HP:0000532	Abnormal chorioretinal morphology
4693	NDP	HP:0000533	Chorioretinal atrophy
4694	NDUFA1	HP:0025116	Fetal distress
4694	NDUFA1	HP:0002490	Increased CSF lactate
4694	NDUFA1	HP:0001138	Optic neuropathy
4694	NDUFA1	HP:0002421	Poor head control
4694	NDUFA1	HP:0002415	Leukodystrophy
4694	NDUFA1	HP:0003737	Mitochondrial myopathy
4694	NDUFA1	HP:0003701	Proximal muscle weakness
4694	NDUFA1	HP:0001298	Encephalopathy
4694	NDUFA1	HP:0001290	Generalized hypotonia
4694	NDUFA1	HP:0001272	Cerebellar atrophy
4694	NDUFA1	HP:0001254	Lethargy
4694	NDUFA1	HP:0001250	Seizure
4694	NDUFA1	HP:0001252	Hypotonia
4694	NDUFA1	HP:0001251	Ataxia
4694	NDUFA1	HP:0001249	Intellectual disability
4694	NDUFA1	HP:0001265	Hyporeflexia
4694	NDUFA1	HP:0001266	Choreoathetosis
4694	NDUFA1	HP:0001263	Global developmental delay
4694	NDUFA1	HP:0001324	Muscle weakness
4694	NDUFA1	HP:0001336	Myoclonus
4694	NDUFA1	HP:0008936	Axial hypotonia
4694	NDUFA1	HP:0000114	Proximal tubulopathy
4694	NDUFA1	HP:0001419	X-linked recessive inheritance
4694	NDUFA1	HP:0002013	Vomiting
4694	NDUFA1	HP:0002093	Respiratory insufficiency
4694	NDUFA1	HP:0002069	Bilateral tonic-clonic seizure
4694	NDUFA1	HP:0002141	Gait imbalance
4694	NDUFA1	HP:0002151	Increased serum lactate
4694	NDUFA1	HP:0002123	Generalized myoclonic seizure
4694	NDUFA1	HP:0011923	Decreased activity of mitochondrial complex I
4694	NDUFA1	HP:0003593	Infantile onset
4694	NDUFA1	HP:0002240	Hepatomegaly
4694	NDUFA1	HP:0003542	Increased serum pyruvate
4694	NDUFA1	HP:0011968	Feeding difficulties
4694	NDUFA1	HP:0008316	Abnormal mitochondria in muscle tissue
4694	NDUFA1	HP:0002381	Aphasia
4694	NDUFA1	HP:0002359	Frequent falls
4694	NDUFA1	HP:0002352	Leukoencephalopathy
4694	NDUFA1	HP:0002317	Unsteady gait
4694	NDUFA1	HP:0000639	Nystagmus
4694	NDUFA1	HP:0000618	Blindness
4694	NDUFA1	HP:0001943	Hypoglycemia
4694	NDUFA1	HP:0031936	Delayed ability to walk
4694	NDUFA1	HP:0012748	Focal T2 hyperintense brainstem lesion
4694	NDUFA1	HP:0000750	Delayed speech and language development
4694	NDUFA1	HP:0000726	Dementia
4694	NDUFA1	HP:0011463	Childhood onset
4694	NDUFA1	HP:0003128	Lactic acidosis
4694	NDUFA1	HP:0000819	Diabetes mellitus
4694	NDUFA1	HP:0000817	Reduced eye contact
4694	NDUFA1	HP:0007704	Paroxysmal involuntary eye movements
4694	NDUFA1	HP:0000252	Microcephaly
4694	NDUFA1	HP:0001508	Failure to thrive
4694	NDUFA1	HP:0001511	Intrauterine growth retardation
4694	NDUFA1	HP:0001639	Hypertrophic cardiomyopathy
4694	NDUFA1	HP:0000408	Progressive sensorineural hearing impairment
4694	NDUFA1	HP:0000407	Sensorineural hearing impairment
4694	NDUFA1	HP:0000486	Strabismus
4694	NDUFA1	HP:0000510	Rod-cone dystrophy
4694	NDUFA1	HP:0000508	Ptosis
4694	NDUFA1	HP:0000543	Optic disc pallor
4695	NDUFA2	HP:0002490	Increased CSF lactate
4695	NDUFA2	HP:0010864	Intellectual disability, severe
4695	NDUFA2	HP:0002415	Leukodystrophy
4695	NDUFA2	HP:0001250	Seizure
4695	NDUFA2	HP:0001252	Hypotonia
4695	NDUFA2	HP:0001260	Dysarthria
4695	NDUFA2	HP:0001263	Global developmental delay
4695	NDUFA2	HP:0001257	Spasticity
4695	NDUFA2	HP:0001347	Hyperreflexia
4695	NDUFA2	HP:0001332	Dystonia
4695	NDUFA2	HP:0000007	Autosomal recessive inheritance
4695	NDUFA2	HP:0008972	Decreased activity of mitochondrial respiratory chain
4695	NDUFA2	HP:0002079	Hypoplasia of the corpus callosum
4695	NDUFA2	HP:0002073	Progressive cerebellar ataxia
4695	NDUFA2	HP:0002059	Cerebral atrophy
4695	NDUFA2	HP:0002151	Increased serum lactate
4695	NDUFA2	HP:0002104	Apnea
4695	NDUFA2	HP:0003577	Congenital onset
4695	NDUFA2	HP:0007020	Progressive spastic paraplegia
4695	NDUFA2	HP:0009830	Peripheral neuropathy
4695	NDUFA2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4695	NDUFA2	HP:0000639	Nystagmus
4695	NDUFA2	HP:0000648	Optic atrophy
4695	NDUFA2	HP:0001942	Metabolic acidosis
4695	NDUFA2	HP:0001941	Acidosis
4695	NDUFA2	HP:0000602	Ophthalmoplegia
4695	NDUFA2	HP:0001903	Anemia
4695	NDUFA2	HP:0100022	Abnormality of movement
4695	NDUFA2	HP:0000712	Emotional lability
4695	NDUFA2	HP:0000998	Hypertrichosis
4695	NDUFA2	HP:0001522	Death in infancy
4695	NDUFA2	HP:0001508	Failure to thrive
4695	NDUFA2	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4695	NDUFA2	HP:0000365	Hearing impairment
4695	NDUFA2	HP:0001629	Ventricular septal defect
4695	NDUFA2	HP:0001639	Hypertrophic cardiomyopathy
4695	NDUFA2	HP:0000486	Strabismus
4695	NDUFA2	HP:0000508	Ptosis
4695	NDUFA2	HP:0000580	Pigmentary retinopathy
4697	NDUFA4	HP:0002490	Increased CSF lactate
4697	NDUFA4	HP:0010864	Intellectual disability, severe
4697	NDUFA4	HP:0002415	Leukodystrophy
4697	NDUFA4	HP:0001270	Motor delay
4697	NDUFA4	HP:0001250	Seizure
4697	NDUFA4	HP:0001252	Hypotonia
4697	NDUFA4	HP:0001251	Ataxia
4697	NDUFA4	HP:0001264	Spastic diplegia
4697	NDUFA4	HP:0001260	Dysarthria
4697	NDUFA4	HP:0001263	Global developmental delay
4697	NDUFA4	HP:0001257	Spasticity
4697	NDUFA4	HP:0500233	Increased CSF alanine concentration
4697	NDUFA4	HP:0001348	Brisk reflexes
4697	NDUFA4	HP:0001347	Hyperreflexia
4697	NDUFA4	HP:0001332	Dystonia
4697	NDUFA4	HP:0000007	Autosomal recessive inheritance
4697	NDUFA4	HP:0001336	Myoclonus
4697	NDUFA4	HP:0008972	Decreased activity of mitochondrial respiratory chain
4697	NDUFA4	HP:0002069	Bilateral tonic-clonic seizure
4697	NDUFA4	HP:0002073	Progressive cerebellar ataxia
4697	NDUFA4	HP:0003487	Babinski sign
4697	NDUFA4	HP:0002151	Increased serum lactate
4697	NDUFA4	HP:0002104	Apnea
4697	NDUFA4	HP:0003577	Congenital onset
4697	NDUFA4	HP:0003557	Increased variability in muscle fiber diameter
4697	NDUFA4	HP:0007020	Progressive spastic paraplegia
4697	NDUFA4	HP:0008347	Decreased activity of mitochondrial complex IV
4697	NDUFA4	HP:0003688	Cytochrome C oxidase-negative muscle fibers
4697	NDUFA4	HP:0009830	Peripheral neuropathy
4697	NDUFA4	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4697	NDUFA4	HP:0000639	Nystagmus
4697	NDUFA4	HP:0000648	Optic atrophy
4697	NDUFA4	HP:0001941	Acidosis
4697	NDUFA4	HP:0000602	Ophthalmoplegia
4697	NDUFA4	HP:0001903	Anemia
4697	NDUFA4	HP:0004322	Short stature
4697	NDUFA4	HP:0100022	Abnormality of movement
4697	NDUFA4	HP:0000750	Delayed speech and language development
4697	NDUFA4	HP:0000712	Emotional lability
4697	NDUFA4	HP:0003128	Lactic acidosis
4697	NDUFA4	HP:0000998	Hypertrichosis
4697	NDUFA4	HP:0012240	Increased intramyocellular lipid droplets
4697	NDUFA4	HP:0001531	Failure to thrive in infancy
4697	NDUFA4	HP:0001508	Failure to thrive
4697	NDUFA4	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4697	NDUFA4	HP:0000365	Hearing impairment
4697	NDUFA4	HP:0001629	Ventricular septal defect
4697	NDUFA4	HP:0001639	Hypertrophic cardiomyopathy
4697	NDUFA4	HP:0000486	Strabismus
4697	NDUFA4	HP:0000508	Ptosis
4697	NDUFA4	HP:0000580	Pigmentary retinopathy
4700	NDUFA6	HP:0025116	Fetal distress
4700	NDUFA6	HP:0002490	Increased CSF lactate
4700	NDUFA6	HP:0002465	Poor speech
4700	NDUFA6	HP:0001138	Optic neuropathy
4700	NDUFA6	HP:0009879	Simplified gyral pattern
4700	NDUFA6	HP:0002421	Poor head control
4700	NDUFA6	HP:0002415	Leukodystrophy
4700	NDUFA6	HP:0003737	Mitochondrial myopathy
4700	NDUFA6	HP:0001298	Encephalopathy
4700	NDUFA6	HP:0001290	Generalized hypotonia
4700	NDUFA6	HP:0001254	Lethargy
4700	NDUFA6	HP:0001250	Seizure
4700	NDUFA6	HP:0001252	Hypotonia
4700	NDUFA6	HP:0001251	Ataxia
4700	NDUFA6	HP:0001260	Dysarthria
4700	NDUFA6	HP:0001263	Global developmental delay
4700	NDUFA6	HP:0001257	Spasticity
4700	NDUFA6	HP:0002505	Loss of ambulation
4700	NDUFA6	HP:0000047	Hypospadias
4700	NDUFA6	HP:0001324	Muscle weakness
4700	NDUFA6	HP:0000007	Autosomal recessive inheritance
4700	NDUFA6	HP:0001321	Cerebellar hypoplasia
4700	NDUFA6	HP:0012179	Craniofacial dystonia
4700	NDUFA6	HP:0008936	Axial hypotonia
4700	NDUFA6	HP:0000114	Proximal tubulopathy
4700	NDUFA6	HP:0002015	Dysphagia
4700	NDUFA6	HP:0002013	Vomiting
4700	NDUFA6	HP:0002093	Respiratory insufficiency
4700	NDUFA6	HP:0002151	Increased serum lactate
4700	NDUFA6	HP:0002119	Ventriculomegaly
4700	NDUFA6	HP:0002133	Status epilepticus
4700	NDUFA6	HP:0002110	Bronchiectasis
4700	NDUFA6	HP:0002104	Apnea
4700	NDUFA6	HP:0011923	Decreased activity of mitochondrial complex I
4700	NDUFA6	HP:0003593	Infantile onset
4700	NDUFA6	HP:0003577	Congenital onset
4700	NDUFA6	HP:0002240	Hepatomegaly
4700	NDUFA6	HP:0003542	Increased serum pyruvate
4700	NDUFA6	HP:0011968	Feeding difficulties
4700	NDUFA6	HP:0011951	Aspiration pneumonia
4700	NDUFA6	HP:0008316	Abnormal mitochondria in muscle tissue
4700	NDUFA6	HP:0002344	Progressive neurologic deterioration
4700	NDUFA6	HP:0002352	Leukoencephalopathy
4700	NDUFA6	HP:0002300	Mutism
4700	NDUFA6	HP:0000639	Nystagmus
4700	NDUFA6	HP:0000648	Optic atrophy
4700	NDUFA6	HP:0000618	Blindness
4700	NDUFA6	HP:0001943	Hypoglycemia
4700	NDUFA6	HP:0001942	Metabolic acidosis
4700	NDUFA6	HP:0001987	Hyperammonemia
4700	NDUFA6	HP:0012748	Focal T2 hyperintense brainstem lesion
4700	NDUFA6	HP:0000737	Irritability
4700	NDUFA6	HP:0011463	Childhood onset
4700	NDUFA6	HP:0034295	Reduced cerebral white matter volume
4700	NDUFA6	HP:0003128	Lactic acidosis
4700	NDUFA6	HP:0000819	Diabetes mellitus
4700	NDUFA6	HP:0000817	Reduced eye contact
4700	NDUFA6	HP:0033044	Motor regression
4700	NDUFA6	HP:0008070	Sparse hair
4700	NDUFA6	HP:0007704	Paroxysmal involuntary eye movements
4700	NDUFA6	HP:0000252	Microcephaly
4700	NDUFA6	HP:0001562	Oligohydramnios
4700	NDUFA6	HP:0001508	Failure to thrive
4700	NDUFA6	HP:0001518	Small for gestational age
4700	NDUFA6	HP:0001511	Intrauterine growth retardation
4700	NDUFA6	HP:0001639	Hypertrophic cardiomyopathy
4700	NDUFA6	HP:0000407	Sensorineural hearing impairment
4700	NDUFA6	HP:0000486	Strabismus
4700	NDUFA6	HP:0000508	Ptosis
4700	NDUFA6	HP:0000543	Optic disc pallor
4700	NDUFA6	HP:0001875	Neutropenia
4702	NDUFA8	HP:0002490	Increased CSF lactate
4702	NDUFA8	HP:0002445	Tetraplegia
4702	NDUFA8	HP:0002421	Poor head control
4702	NDUFA8	HP:0002401	Stroke-like episode
4702	NDUFA8	HP:0001276	Hypertonia
4702	NDUFA8	HP:0001272	Cerebellar atrophy
4702	NDUFA8	HP:0001270	Motor delay
4702	NDUFA8	HP:0001250	Seizure
4702	NDUFA8	HP:0001252	Hypotonia
4702	NDUFA8	HP:0007371	Corpus callosum atrophy
4702	NDUFA8	HP:0000047	Hypospadias
4702	NDUFA8	HP:0000023	Inguinal hernia
4702	NDUFA8	HP:0000007	Autosomal recessive inheritance
4702	NDUFA8	HP:0002098	Respiratory distress
4702	NDUFA8	HP:0002092	Pulmonary arterial hypertension
4702	NDUFA8	HP:0002059	Cerebral atrophy
4702	NDUFA8	HP:0002151	Increased serum lactate
4702	NDUFA8	HP:0002120	Cerebral cortical atrophy
4702	NDUFA8	HP:0002119	Ventriculomegaly
4702	NDUFA8	HP:0002133	Status epilepticus
4702	NDUFA8	HP:0011923	Decreased activity of mitochondrial complex I
4702	NDUFA8	HP:0002179	Opisthotonus
4702	NDUFA8	HP:0003593	Infantile onset
4702	NDUFA8	HP:0011344	Severe global developmental delay
4702	NDUFA8	HP:0000750	Delayed speech and language development
4702	NDUFA8	HP:0003128	Lactic acidosis
4702	NDUFA8	HP:0003202	Skeletal muscle atrophy
4702	NDUFA8	HP:0000252	Microcephaly
4702	NDUFA8	HP:0000218	High palate
4702	NDUFA8	HP:0001508	Failure to thrive
4702	NDUFA8	HP:0001510	Growth delay
4702	NDUFA8	HP:0001662	Bradycardia
4702	NDUFA8	HP:0032989	Delayed ability to roll over
4703	NEB	HP:0001188	Hand clenching
4703	NEB	HP:0001181	Adducted thumb
4703	NEB	HP:0002483	Bulbar signs
4703	NEB	HP:0003798	Nemaline bodies
4703	NEB	HP:0003722	Neck flexor weakness
4703	NEB	HP:0003707	Calf muscle pseudohypertrophy
4703	NEB	HP:0003701	Proximal muscle weakness
4703	NEB	HP:0001290	Generalized hypotonia
4703	NEB	HP:0001270	Motor delay
4703	NEB	HP:0001288	Gait disturbance
4703	NEB	HP:0001283	Bulbar palsy
4703	NEB	HP:0001284	Areflexia
4703	NEB	HP:0001265	Hyporeflexia
4703	NEB	HP:0001260	Dysarthria
4703	NEB	HP:0002540	Inability to walk
4703	NEB	HP:0002515	Waddling gait
4703	NEB	HP:0003805	Rimmed vacuoles
4703	NEB	HP:0003803	Type 1 muscle fiber predominance
4703	NEB	HP:0003819	Death in childhood
4703	NEB	HP:0003811	Neonatal death
4703	NEB	HP:0003810	Late-onset distal muscle weakness
4703	NEB	HP:0001371	Flexion contracture
4703	NEB	HP:0012036	Sternocleidomastoid amyotrophy
4703	NEB	HP:0000054	Micropenis
4703	NEB	HP:0000047	Hypospadias
4703	NEB	HP:0001349	Facial diplegia
4703	NEB	HP:0007514	Edema of the dorsum of hands
4703	NEB	HP:0000007	Autosomal recessive inheritance
4703	NEB	HP:0002650	Scoliosis
4703	NEB	HP:0001319	Neonatal hypotonia
4703	NEB	HP:0000160	Narrow mouth
4703	NEB	HP:0000175	Cleft palate
4703	NEB	HP:0002705	High, narrow palate
4703	NEB	HP:0002792	Reduced vital capacity
4703	NEB	HP:0002747	Respiratory insufficiency due to muscle weakness
4703	NEB	HP:0003327	Axial muscle weakness
4703	NEB	HP:0003325	Limb-girdle muscle weakness
4703	NEB	HP:0002015	Dysphagia
4703	NEB	HP:0003307	Hyperlordosis
4703	NEB	HP:0003306	Spinal rigidity
4703	NEB	HP:0003324	Generalized muscle weakness
4703	NEB	HP:0002089	Pulmonary hypoplasia
4703	NEB	HP:0002093	Respiratory insufficiency
4703	NEB	HP:0002067	Bradykinesia
4703	NEB	HP:0002068	Neuromuscular dysphagia
4703	NEB	HP:0003393	Thenar muscle atrophy
4703	NEB	HP:0003376	Steppage gait
4703	NEB	HP:0002058	Myopathic facies
4703	NEB	HP:0003388	Easy fatigability
4703	NEB	HP:0008180	Mildly elevated creatine kinase
4703	NEB	HP:0003458	EMG: myopathic abnormalities
4703	NEB	HP:0003445	EMG: neuropathic changes
4703	NEB	HP:0002104	Apnea
4703	NEB	HP:0003593	Infantile onset
4703	NEB	HP:0003555	Muscle fiber splitting
4703	NEB	HP:0003552	Muscle stiffness
4703	NEB	HP:0003546	Exercise intolerance
4703	NEB	HP:0003557	Increased variability in muscle fiber diameter
4703	NEB	HP:0007010	Poor fine motor coordination
4703	NEB	HP:0011968	Feeding difficulties
4703	NEB	HP:0010628	Facial palsy
4703	NEB	HP:0003691	Scapular winging
4703	NEB	HP:0003690	Limb muscle weakness
4703	NEB	HP:0002359	Frequent falls
4703	NEB	HP:0002375	Hypokinesia
4703	NEB	HP:0002355	Difficulty walking
4703	NEB	HP:0002312	Clumsiness
4703	NEB	HP:0002304	Akinesia
4703	NEB	HP:0006829	Severe muscular hypotonia
4703	NEB	HP:0009073	Progressive proximal muscle weakness
4703	NEB	HP:0009077	Weakness of long finger extensor muscles
4703	NEB	HP:0000602	Ophthalmoplegia
4703	NEB	HP:0009063	Progressive distal muscle weakness
4703	NEB	HP:0009055	Generalized limb muscle atrophy
4703	NEB	HP:0009058	Increased muscle lipid content
4703	NEB	HP:0009025	Increased connective tissue
4703	NEB	HP:0009027	Foot dorsiflexor weakness
4703	NEB	HP:0009005	Weakness of the intrinsic hand muscles
4703	NEB	HP:0001989	Fetal akinesia sequence
4703	NEB	HP:0000767	Pectus excavatum
4703	NEB	HP:0000765	Abnormal thorax morphology
4703	NEB	HP:0000774	Narrow chest
4703	NEB	HP:0000775	Abnormality of the diaphragm
4703	NEB	HP:0003198	Myopathy
4703	NEB	HP:0000883	Thin ribs
4703	NEB	HP:0003236	Elevated circulating creatine kinase concentration
4703	NEB	HP:0003202	Skeletal muscle atrophy
4703	NEB	HP:0005855	Multiple prenatal fractures
4703	NEB	HP:0000275	Narrow face
4703	NEB	HP:0000276	Long face
4703	NEB	HP:0006466	Ankle flexion contracture
4703	NEB	HP:0030059	Mitochondrial depletion
4703	NEB	HP:0002827	Hip dislocation
4703	NEB	HP:0002808	Kyphosis
4703	NEB	HP:0002803	Congenital contracture
4703	NEB	HP:0002804	Arthrogryposis multiplex congenita
4703	NEB	HP:0000239	Large fontanelles
4703	NEB	HP:0001547	Abnormal rib cage morphology
4703	NEB	HP:0002878	Respiratory failure
4703	NEB	HP:0000218	High palate
4703	NEB	HP:0002877	Nocturnal hypoventilation
4703	NEB	HP:0002875	Exertional dyspnea
4703	NEB	HP:0001561	Polyhydramnios
4703	NEB	HP:0001558	Decreased fetal movement
4703	NEB	HP:0002857	Genu valgum
4703	NEB	HP:0001522	Death in infancy
4703	NEB	HP:0001533	Slender build
4703	NEB	HP:0030200	Fatiguable weakness of proximal limb muscles
4703	NEB	HP:0030196	Fatigable weakness of respiratory muscles
4703	NEB	HP:0030192	Fatigable weakness of bulbar muscles
4703	NEB	HP:0030198	Fatigable weakness of distal limb muscles
4703	NEB	HP:0000369	Low-set ears
4703	NEB	HP:0000343	Long philtrum
4703	NEB	HP:0000347	Micrognathia
4703	NEB	HP:0000316	Hypertelorism
4703	NEB	HP:0001623	Breech presentation
4703	NEB	HP:0001622	Premature birth
4703	NEB	HP:0002970	Genu varum
4703	NEB	HP:0001638	Cardiomyopathy
4703	NEB	HP:0030319	Weakness of facial musculature
4703	NEB	HP:0000478	Abnormality of the eye
4703	NEB	HP:0000470	Short neck
4703	NEB	HP:0000467	Neck muscle weakness
4703	NEB	HP:0001761	Pes cavus
4703	NEB	HP:0000508	Ptosis
4703	NEB	HP:0012548	Fatty replacement of skeletal muscle
4703	NEB	HP:0001883	Talipes
4704	NDUFA9	HP:0002490	Increased CSF lactate
4704	NDUFA9	HP:0010864	Intellectual disability, severe
4704	NDUFA9	HP:0002415	Leukodystrophy
4704	NDUFA9	HP:0001272	Cerebellar atrophy
4704	NDUFA9	HP:0001250	Seizure
4704	NDUFA9	HP:0001252	Hypotonia
4704	NDUFA9	HP:0001265	Hyporeflexia
4704	NDUFA9	HP:0001266	Choreoathetosis
4704	NDUFA9	HP:0001260	Dysarthria
4704	NDUFA9	HP:0001263	Global developmental delay
4704	NDUFA9	HP:0001257	Spasticity
4704	NDUFA9	HP:0002509	Limb hypertonia
4704	NDUFA9	HP:0001347	Hyperreflexia
4704	NDUFA9	HP:0001332	Dystonia
4704	NDUFA9	HP:0000007	Autosomal recessive inheritance
4704	NDUFA9	HP:0008972	Decreased activity of mitochondrial respiratory chain
4704	NDUFA9	HP:0002015	Dysphagia
4704	NDUFA9	HP:0002093	Respiratory insufficiency
4704	NDUFA9	HP:0002073	Progressive cerebellar ataxia
4704	NDUFA9	HP:0002059	Cerebral atrophy
4704	NDUFA9	HP:0002151	Increased serum lactate
4704	NDUFA9	HP:0002104	Apnea
4704	NDUFA9	HP:0011923	Decreased activity of mitochondrial complex I
4704	NDUFA9	HP:0007020	Progressive spastic paraplegia
4704	NDUFA9	HP:0003693	Distal amyotrophy
4704	NDUFA9	HP:0002353	EEG abnormality
4704	NDUFA9	HP:0003648	Lacticaciduria
4704	NDUFA9	HP:0009830	Peripheral neuropathy
4704	NDUFA9	HP:0003623	Neonatal onset
4704	NDUFA9	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4704	NDUFA9	HP:0000639	Nystagmus
4704	NDUFA9	HP:0000648	Optic atrophy
4704	NDUFA9	HP:0001942	Metabolic acidosis
4704	NDUFA9	HP:0001941	Acidosis
4704	NDUFA9	HP:0000602	Ophthalmoplegia
4704	NDUFA9	HP:0001903	Anemia
4704	NDUFA9	HP:0100022	Abnormality of movement
4704	NDUFA9	HP:0000712	Emotional lability
4704	NDUFA9	HP:0034295	Reduced cerebral white matter volume
4704	NDUFA9	HP:0000998	Hypertrichosis
4704	NDUFA9	HP:0032653	Elevated lactate:pyruvate ratio
4704	NDUFA9	HP:0001508	Failure to thrive
4704	NDUFA9	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4704	NDUFA9	HP:0000365	Hearing impairment
4704	NDUFA9	HP:0001629	Ventricular septal defect
4704	NDUFA9	HP:0001639	Hypertrophic cardiomyopathy
4704	NDUFA9	HP:0000486	Strabismus
4704	NDUFA9	HP:0000510	Rod-cone dystrophy
4704	NDUFA9	HP:0000508	Ptosis
4704	NDUFA9	HP:0000580	Pigmentary retinopathy
4705	NDUFA10	HP:0025116	Fetal distress
4705	NDUFA10	HP:0002490	Increased CSF lactate
4705	NDUFA10	HP:0010864	Intellectual disability, severe
4705	NDUFA10	HP:0002421	Poor head control
4705	NDUFA10	HP:0002415	Leukodystrophy
4705	NDUFA10	HP:0001250	Seizure
4705	NDUFA10	HP:0001252	Hypotonia
4705	NDUFA10	HP:0001260	Dysarthria
4705	NDUFA10	HP:0001263	Global developmental delay
4705	NDUFA10	HP:0001257	Spasticity
4705	NDUFA10	HP:0001347	Hyperreflexia
4705	NDUFA10	HP:0001332	Dystonia
4705	NDUFA10	HP:0000007	Autosomal recessive inheritance
4705	NDUFA10	HP:0008972	Decreased activity of mitochondrial respiratory chain
4705	NDUFA10	HP:0002093	Respiratory insufficiency
4705	NDUFA10	HP:0002073	Progressive cerebellar ataxia
4705	NDUFA10	HP:0002151	Increased serum lactate
4705	NDUFA10	HP:0002104	Apnea
4705	NDUFA10	HP:0011923	Decreased activity of mitochondrial complex I
4705	NDUFA10	HP:0003593	Infantile onset
4705	NDUFA10	HP:0007020	Progressive spastic paraplegia
4705	NDUFA10	HP:0009830	Peripheral neuropathy
4705	NDUFA10	HP:0003623	Neonatal onset
4705	NDUFA10	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4705	NDUFA10	HP:0000639	Nystagmus
4705	NDUFA10	HP:0000648	Optic atrophy
4705	NDUFA10	HP:0001941	Acidosis
4705	NDUFA10	HP:0000602	Ophthalmoplegia
4705	NDUFA10	HP:0001903	Anemia
4705	NDUFA10	HP:0100022	Abnormality of movement
4705	NDUFA10	HP:0000712	Emotional lability
4705	NDUFA10	HP:0003128	Lactic acidosis
4705	NDUFA10	HP:0000998	Hypertrichosis
4705	NDUFA10	HP:0032653	Elevated lactate:pyruvate ratio
4705	NDUFA10	HP:0001508	Failure to thrive
4705	NDUFA10	HP:0001511	Intrauterine growth retardation
4705	NDUFA10	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4705	NDUFA10	HP:0000365	Hearing impairment
4705	NDUFA10	HP:0001629	Ventricular septal defect
4705	NDUFA10	HP:0001639	Hypertrophic cardiomyopathy
4705	NDUFA10	HP:0000486	Strabismus
4705	NDUFA10	HP:0000508	Ptosis
4705	NDUFA10	HP:0000580	Pigmentary retinopathy
4709	NDUFB3	HP:0025116	Fetal distress
4709	NDUFB3	HP:0002490	Increased CSF lactate
4709	NDUFB3	HP:0003798	Nemaline bodies
4709	NDUFB3	HP:0001138	Optic neuropathy
4709	NDUFB3	HP:0002421	Poor head control
4709	NDUFB3	HP:0002415	Leukodystrophy
4709	NDUFB3	HP:0003737	Mitochondrial myopathy
4709	NDUFB3	HP:0001298	Encephalopathy
4709	NDUFB3	HP:0001254	Lethargy
4709	NDUFB3	HP:0001252	Hypotonia
4709	NDUFB3	HP:0001251	Ataxia
4709	NDUFB3	HP:0001263	Global developmental delay
4709	NDUFB3	HP:0001324	Muscle weakness
4709	NDUFB3	HP:0000007	Autosomal recessive inheritance
4709	NDUFB3	HP:0000114	Proximal tubulopathy
4709	NDUFB3	HP:0002013	Vomiting
4709	NDUFB3	HP:0002093	Respiratory insufficiency
4709	NDUFB3	HP:0011923	Decreased activity of mitochondrial complex I
4709	NDUFB3	HP:0002240	Hepatomegaly
4709	NDUFB3	HP:0003542	Increased serum pyruvate
4709	NDUFB3	HP:0011968	Feeding difficulties
4709	NDUFB3	HP:0008316	Abnormal mitochondria in muscle tissue
4709	NDUFB3	HP:0002352	Leukoencephalopathy
4709	NDUFB3	HP:0000639	Nystagmus
4709	NDUFB3	HP:0000618	Blindness
4709	NDUFB3	HP:0001943	Hypoglycemia
4709	NDUFB3	HP:0030674	Antenatal onset
4709	NDUFB3	HP:0012748	Focal T2 hyperintense brainstem lesion
4709	NDUFB3	HP:0003198	Myopathy
4709	NDUFB3	HP:0003128	Lactic acidosis
4709	NDUFB3	HP:0000819	Diabetes mellitus
4709	NDUFB3	HP:0000817	Reduced eye contact
4709	NDUFB3	HP:0007704	Paroxysmal involuntary eye movements
4709	NDUFB3	HP:0000252	Microcephaly
4709	NDUFB3	HP:0001508	Failure to thrive
4709	NDUFB3	HP:0001511	Intrauterine growth retardation
4709	NDUFB3	HP:0001622	Premature birth
4709	NDUFB3	HP:0001639	Hypertrophic cardiomyopathy
4709	NDUFB3	HP:0000407	Sensorineural hearing impairment
4709	NDUFB3	HP:0000486	Strabismus
4709	NDUFB3	HP:0000508	Ptosis
4709	NDUFB3	HP:0000543	Optic disc pallor
4713	NDUFB7	HP:0000047	Hypospadias
4713	NDUFB7	HP:0000028	Cryptorchidism
4713	NDUFB7	HP:0000007	Autosomal recessive inheritance
4713	NDUFB7	HP:0011923	Decreased activity of mitochondrial complex I
4713	NDUFB7	HP:0001903	Anemia
4713	NDUFB7	HP:0006989	Dysplastic corpus callosum
4713	NDUFB7	HP:0034198	Second trimester onset
4713	NDUFB7	HP:0012707	Elevated brain lactate level by MRS
4713	NDUFB7	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
4713	NDUFB7	HP:0003128	Lactic acidosis
4713	NDUFB7	HP:0011682	Perimembranous ventricular septal defect
4713	NDUFB7	HP:0001562	Oligohydramnios
4713	NDUFB7	HP:0001518	Small for gestational age
4713	NDUFB7	HP:0001511	Intrauterine growth retardation
4713	NDUFB7	HP:0001640	Cardiomegaly
4713	NDUFB7	HP:0001639	Hypertrophic cardiomyopathy
4713	NDUFB7	HP:0001631	Atrial septal defect
4714	NDUFB8	HP:0002490	Increased CSF lactate
4714	NDUFB8	HP:0002453	Abnormal globus pallidus morphology
4714	NDUFB8	HP:0002415	Leukodystrophy
4714	NDUFB8	HP:0001290	Generalized hypotonia
4714	NDUFB8	HP:0001276	Hypertonia
4714	NDUFB8	HP:0001268	Mental deterioration
4714	NDUFB8	HP:0001250	Seizure
4714	NDUFB8	HP:0001251	Ataxia
4714	NDUFB8	HP:0001249	Intellectual disability
4714	NDUFB8	HP:0001263	Global developmental delay
4714	NDUFB8	HP:0001257	Spasticity
4714	NDUFB8	HP:0002538	Abnormal cerebral cortex morphology
4714	NDUFB8	HP:0000091	Abnormal renal tubule morphology
4714	NDUFB8	HP:0001332	Dystonia
4714	NDUFB8	HP:0001324	Muscle weakness
4714	NDUFB8	HP:0000007	Autosomal recessive inheritance
4714	NDUFB8	HP:0001488	Bilateral ptosis
4714	NDUFB8	HP:0008947	Infantile muscular hypotonia
4714	NDUFB8	HP:0000110	Renal dysplasia
4714	NDUFB8	HP:0000104	Renal agenesis
4714	NDUFB8	HP:0001410	Decreased liver function
4714	NDUFB8	HP:0002033	Poor suck
4714	NDUFB8	HP:0002015	Dysphagia
4714	NDUFB8	HP:0002086	Abnormality of the respiratory system
4714	NDUFB8	HP:0002098	Respiratory distress
4714	NDUFB8	HP:0002093	Respiratory insufficiency
4714	NDUFB8	HP:0002072	Chorea
4714	NDUFB8	HP:0002151	Increased serum lactate
4714	NDUFB8	HP:0002119	Ventriculomegaly
4714	NDUFB8	HP:0002104	Apnea
4714	NDUFB8	HP:0003593	Infantile onset
4714	NDUFB8	HP:0200147	Neuronal loss in basal ganglia
4714	NDUFB8	HP:0002283	Global brain atrophy
4714	NDUFB8	HP:0010663	Abnormality of thalamus morphology
4714	NDUFB8	HP:0002363	Abnormal brainstem morphology
4714	NDUFB8	HP:0002376	Developmental regression
4714	NDUFB8	HP:0002339	Abnormal caudate nucleus morphology
4714	NDUFB8	HP:0007204	Diffuse white matter abnormalities
4714	NDUFB8	HP:0100660	Dyskinesia
4714	NDUFB8	HP:0009830	Peripheral neuropathy
4714	NDUFB8	HP:0025045	Abnormal brain lactate level by MRS
4714	NDUFB8	HP:0007159	Fluctuations in consciousness
4714	NDUFB8	HP:0007110	Central hypoventilation
4714	NDUFB8	HP:0000639	Nystagmus
4714	NDUFB8	HP:0000648	Optic atrophy
4714	NDUFB8	HP:0001947	Renal tubular acidosis
4714	NDUFB8	HP:0001942	Metabolic acidosis
4714	NDUFB8	HP:0000602	Ophthalmoplegia
4714	NDUFB8	HP:0001903	Anemia
4714	NDUFB8	HP:0004305	Involuntary movements
4714	NDUFB8	HP:0006999	Basal ganglia gliosis
4714	NDUFB8	HP:0012707	Elevated brain lactate level by MRS
4714	NDUFB8	HP:0012758	Neurodevelopmental delay
4714	NDUFB8	HP:0000998	Hypertrichosis
4714	NDUFB8	HP:0030085	Abnormal CSF lactate concentration
4714	NDUFB8	HP:0002878	Respiratory failure
4714	NDUFB8	HP:0001508	Failure to thrive
4714	NDUFB8	HP:0000365	Hearing impairment
4714	NDUFB8	HP:0001642	Pulmonic stenosis
4714	NDUFB8	HP:0001644	Dilated cardiomyopathy
4714	NDUFB8	HP:0001653	Mitral regurgitation
4714	NDUFB8	HP:0001626	Abnormality of the cardiovascular system
4714	NDUFB8	HP:0001639	Hypertrophic cardiomyopathy
4714	NDUFB8	HP:0001635	Congestive heart failure
4714	NDUFB8	HP:0007941	Limited extraocular movements
4714	NDUFB8	HP:0031546	Cardiac conduction abnormality
4714	NDUFB8	HP:0000496	Abnormality of eye movement
4714	NDUFB8	HP:0000488	Retinopathy
4714	NDUFB8	HP:0000505	Visual impairment
4714	NDUFB8	HP:0000570	Abnormal saccadic eye movements
4715	NDUFB9	HP:0025116	Fetal distress
4715	NDUFB9	HP:0002490	Increased CSF lactate
4715	NDUFB9	HP:0001138	Optic neuropathy
4715	NDUFB9	HP:0002421	Poor head control
4715	NDUFB9	HP:0002415	Leukodystrophy
4715	NDUFB9	HP:0003737	Mitochondrial myopathy
4715	NDUFB9	HP:0001298	Encephalopathy
4715	NDUFB9	HP:0001254	Lethargy
4715	NDUFB9	HP:0001252	Hypotonia
4715	NDUFB9	HP:0001251	Ataxia
4715	NDUFB9	HP:0001263	Global developmental delay
4715	NDUFB9	HP:0001324	Muscle weakness
4715	NDUFB9	HP:0000007	Autosomal recessive inheritance
4715	NDUFB9	HP:0000114	Proximal tubulopathy
4715	NDUFB9	HP:0002013	Vomiting
4715	NDUFB9	HP:0002093	Respiratory insufficiency
4715	NDUFB9	HP:0002151	Increased serum lactate
4715	NDUFB9	HP:0011923	Decreased activity of mitochondrial complex I
4715	NDUFB9	HP:0003593	Infantile onset
4715	NDUFB9	HP:0002240	Hepatomegaly
4715	NDUFB9	HP:0003542	Increased serum pyruvate
4715	NDUFB9	HP:0011968	Feeding difficulties
4715	NDUFB9	HP:0008316	Abnormal mitochondria in muscle tissue
4715	NDUFB9	HP:0003676	Progressive
4715	NDUFB9	HP:0002352	Leukoencephalopathy
4715	NDUFB9	HP:0000639	Nystagmus
4715	NDUFB9	HP:0000618	Blindness
4715	NDUFB9	HP:0001943	Hypoglycemia
4715	NDUFB9	HP:0012748	Focal T2 hyperintense brainstem lesion
4715	NDUFB9	HP:0003128	Lactic acidosis
4715	NDUFB9	HP:0000819	Diabetes mellitus
4715	NDUFB9	HP:0000817	Reduced eye contact
4715	NDUFB9	HP:0007704	Paroxysmal involuntary eye movements
4715	NDUFB9	HP:0000252	Microcephaly
4715	NDUFB9	HP:0001508	Failure to thrive
4715	NDUFB9	HP:0001511	Intrauterine growth retardation
4715	NDUFB9	HP:0001639	Hypertrophic cardiomyopathy
4715	NDUFB9	HP:0000407	Sensorineural hearing impairment
4715	NDUFB9	HP:0000486	Strabismus
4715	NDUFB9	HP:0000508	Ptosis
4715	NDUFB9	HP:0000543	Optic disc pallor
4716	NDUFB10	HP:0025116	Fetal distress
4716	NDUFB10	HP:0002490	Increased CSF lactate
4716	NDUFB10	HP:0001138	Optic neuropathy
4716	NDUFB10	HP:0002421	Poor head control
4716	NDUFB10	HP:0002415	Leukodystrophy
4716	NDUFB10	HP:0003737	Mitochondrial myopathy
4716	NDUFB10	HP:0001298	Encephalopathy
4716	NDUFB10	HP:0001254	Lethargy
4716	NDUFB10	HP:0001252	Hypotonia
4716	NDUFB10	HP:0001251	Ataxia
4716	NDUFB10	HP:0001263	Global developmental delay
4716	NDUFB10	HP:0003811	Neonatal death
4716	NDUFB10	HP:0001324	Muscle weakness
4716	NDUFB10	HP:0000007	Autosomal recessive inheritance
4716	NDUFB10	HP:0002643	Neonatal respiratory distress
4716	NDUFB10	HP:0000114	Proximal tubulopathy
4716	NDUFB10	HP:0032528	Elevated urinary 4-hydroxybutyric acid
4716	NDUFB10	HP:0003348	Hyperalaninemia
4716	NDUFB10	HP:0005989	Redundant neck skin
4716	NDUFB10	HP:0002013	Vomiting
4716	NDUFB10	HP:0002089	Pulmonary hypoplasia
4716	NDUFB10	HP:0002092	Pulmonary arterial hypertension
4716	NDUFB10	HP:0002093	Respiratory insufficiency
4716	NDUFB10	HP:0011923	Decreased activity of mitochondrial complex I
4716	NDUFB10	HP:0002240	Hepatomegaly
4716	NDUFB10	HP:0003542	Increased serum pyruvate
4716	NDUFB10	HP:0008358	Hyperprolinemia
4716	NDUFB10	HP:0011968	Feeding difficulties
4716	NDUFB10	HP:0008316	Abnormal mitochondria in muscle tissue
4716	NDUFB10	HP:0002352	Leukoencephalopathy
4716	NDUFB10	HP:0003648	Lacticaciduria
4716	NDUFB10	HP:0000639	Nystagmus
4716	NDUFB10	HP:0000618	Blindness
4716	NDUFB10	HP:0001943	Hypoglycemia
4716	NDUFB10	HP:0001942	Metabolic acidosis
4716	NDUFB10	HP:0012748	Focal T2 hyperintense brainstem lesion
4716	NDUFB10	HP:0003128	Lactic acidosis
4716	NDUFB10	HP:0000819	Diabetes mellitus
4716	NDUFB10	HP:0000817	Reduced eye contact
4716	NDUFB10	HP:0007704	Paroxysmal involuntary eye movements
4716	NDUFB10	HP:0000252	Microcephaly
4716	NDUFB10	HP:0032653	Elevated lactate:pyruvate ratio
4716	NDUFB10	HP:0001508	Failure to thrive
4716	NDUFB10	HP:0001511	Intrauterine growth retardation
4716	NDUFB10	HP:0001639	Hypertrophic cardiomyopathy
4716	NDUFB10	HP:0001638	Cardiomyopathy
4716	NDUFB10	HP:0000407	Sensorineural hearing impairment
4716	NDUFB10	HP:0000486	Strabismus
4716	NDUFB10	HP:0001790	Nonimmune hydrops fetalis
4716	NDUFB10	HP:0000508	Ptosis
4716	NDUFB10	HP:0000543	Optic disc pallor
4718	NDUFC2	HP:0001250	Seizure
4718	NDUFC2	HP:0001263	Global developmental delay
4718	NDUFC2	HP:0001257	Spasticity
4718	NDUFC2	HP:0002509	Limb hypertonia
4718	NDUFC2	HP:0000007	Autosomal recessive inheritance
4718	NDUFC2	HP:0008936	Axial hypotonia
4718	NDUFC2	HP:0002783	Recurrent lower respiratory tract infections
4718	NDUFC2	HP:0003348	Hyperalaninemia
4718	NDUFC2	HP:0002151	Increased serum lactate
4718	NDUFC2	HP:0011923	Decreased activity of mitochondrial complex I
4718	NDUFC2	HP:0003593	Infantile onset
4718	NDUFC2	HP:0002280	Enlarged cisterna magna
4718	NDUFC2	HP:0008358	Hyperprolinemia
4718	NDUFC2	HP:0002376	Developmental regression
4718	NDUFC2	HP:0006970	Periventricular leukomalacia
4718	NDUFC2	HP:0030674	Antenatal onset
4718	NDUFC2	HP:0011463	Childhood onset
4718	NDUFC2	HP:0011682	Perimembranous ventricular septal defect
4718	NDUFC2	HP:0000252	Microcephaly
4718	NDUFC2	HP:0001640	Cardiomegaly
4718	NDUFC2	HP:0000543	Optic disc pallor
4719	NDUFS1	HP:0025116	Fetal distress
4719	NDUFS1	HP:0002490	Increased CSF lactate
4719	NDUFS1	HP:0002465	Poor speech
4719	NDUFS1	HP:0001138	Optic neuropathy
4719	NDUFS1	HP:0010864	Intellectual disability, severe
4719	NDUFS1	HP:0002421	Poor head control
4719	NDUFS1	HP:0002415	Leukodystrophy
4719	NDUFS1	HP:0003737	Mitochondrial myopathy
4719	NDUFS1	HP:0001298	Encephalopathy
4719	NDUFS1	HP:0001290	Generalized hypotonia
4719	NDUFS1	HP:0001272	Cerebellar atrophy
4719	NDUFS1	HP:0001254	Lethargy
4719	NDUFS1	HP:0001250	Seizure
4719	NDUFS1	HP:0001252	Hypotonia
4719	NDUFS1	HP:0001251	Ataxia
4719	NDUFS1	HP:0001260	Dysarthria
4719	NDUFS1	HP:0001263	Global developmental delay
4719	NDUFS1	HP:0001257	Spasticity
4719	NDUFS1	HP:0002572	Episodic vomiting
4719	NDUFS1	HP:0001347	Hyperreflexia
4719	NDUFS1	HP:0001332	Dystonia
4719	NDUFS1	HP:0001324	Muscle weakness
4719	NDUFS1	HP:0000007	Autosomal recessive inheritance
4719	NDUFS1	HP:0008972	Decreased activity of mitochondrial respiratory chain
4719	NDUFS1	HP:0008936	Axial hypotonia
4719	NDUFS1	HP:0000114	Proximal tubulopathy
4719	NDUFS1	HP:0002015	Dysphagia
4719	NDUFS1	HP:0002013	Vomiting
4719	NDUFS1	HP:0002093	Respiratory insufficiency
4719	NDUFS1	HP:0002073	Progressive cerebellar ataxia
4719	NDUFS1	HP:0003487	Babinski sign
4719	NDUFS1	HP:0002151	Increased serum lactate
4719	NDUFS1	HP:0002104	Apnea
4719	NDUFS1	HP:0011923	Decreased activity of mitochondrial complex I
4719	NDUFS1	HP:0003593	Infantile onset
4719	NDUFS1	HP:0002240	Hepatomegaly
4719	NDUFS1	HP:0003542	Increased serum pyruvate
4719	NDUFS1	HP:0007020	Progressive spastic paraplegia
4719	NDUFS1	HP:0011968	Feeding difficulties
4719	NDUFS1	HP:0008316	Abnormal mitochondria in muscle tissue
4719	NDUFS1	HP:0002376	Developmental regression
4719	NDUFS1	HP:0003676	Progressive
4719	NDUFS1	HP:0002352	Leukoencephalopathy
4719	NDUFS1	HP:0009830	Peripheral neuropathy
4719	NDUFS1	HP:0003623	Neonatal onset
4719	NDUFS1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4719	NDUFS1	HP:0000639	Nystagmus
4719	NDUFS1	HP:0000648	Optic atrophy
4719	NDUFS1	HP:0000618	Blindness
4719	NDUFS1	HP:0001943	Hypoglycemia
4719	NDUFS1	HP:0001942	Metabolic acidosis
4719	NDUFS1	HP:0001941	Acidosis
4719	NDUFS1	HP:0000602	Ophthalmoplegia
4719	NDUFS1	HP:0001903	Anemia
4719	NDUFS1	HP:0012748	Focal T2 hyperintense brainstem lesion
4719	NDUFS1	HP:0100022	Abnormality of movement
4719	NDUFS1	HP:0000737	Irritability
4719	NDUFS1	HP:0000712	Emotional lability
4719	NDUFS1	HP:0003128	Lactic acidosis
4719	NDUFS1	HP:0000819	Diabetes mellitus
4719	NDUFS1	HP:0000817	Reduced eye contact
4719	NDUFS1	HP:0000998	Hypertrichosis
4719	NDUFS1	HP:0007704	Paroxysmal involuntary eye movements
4719	NDUFS1	HP:0000253	Progressive microcephaly
4719	NDUFS1	HP:0000252	Microcephaly
4719	NDUFS1	HP:0001508	Failure to thrive
4719	NDUFS1	HP:0001511	Intrauterine growth retardation
4719	NDUFS1	HP:0001510	Growth delay
4719	NDUFS1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4719	NDUFS1	HP:0000365	Hearing impairment
4719	NDUFS1	HP:0001629	Ventricular septal defect
4719	NDUFS1	HP:0001639	Hypertrophic cardiomyopathy
4719	NDUFS1	HP:0000407	Sensorineural hearing impairment
4719	NDUFS1	HP:0000486	Strabismus
4719	NDUFS1	HP:0012444	Brain atrophy
4719	NDUFS1	HP:0000508	Ptosis
4719	NDUFS1	HP:0000580	Pigmentary retinopathy
4719	NDUFS1	HP:0000543	Optic disc pallor
4720	NDUFS2	HP:0025116	Fetal distress
4720	NDUFS2	HP:0002490	Increased CSF lactate
4720	NDUFS2	HP:0001138	Optic neuropathy
4720	NDUFS2	HP:0002453	Abnormal globus pallidus morphology
4720	NDUFS2	HP:0007256	Abnormal pyramidal sign
4720	NDUFS2	HP:0010864	Intellectual disability, severe
4720	NDUFS2	HP:0002421	Poor head control
4720	NDUFS2	HP:0002415	Leukodystrophy
4720	NDUFS2	HP:0003737	Mitochondrial myopathy
4720	NDUFS2	HP:0001298	Encephalopathy
4720	NDUFS2	HP:0001276	Hypertonia
4720	NDUFS2	HP:0001268	Mental deterioration
4720	NDUFS2	HP:0001254	Lethargy
4720	NDUFS2	HP:0001250	Seizure
4720	NDUFS2	HP:0001252	Hypotonia
4720	NDUFS2	HP:0001251	Ataxia
4720	NDUFS2	HP:0001249	Intellectual disability
4720	NDUFS2	HP:0001260	Dysarthria
4720	NDUFS2	HP:0001263	Global developmental delay
4720	NDUFS2	HP:0001257	Spasticity
4720	NDUFS2	HP:0002538	Abnormal cerebral cortex morphology
4720	NDUFS2	HP:0000091	Abnormal renal tubule morphology
4720	NDUFS2	HP:0001347	Hyperreflexia
4720	NDUFS2	HP:0001332	Dystonia
4720	NDUFS2	HP:0001324	Muscle weakness
4720	NDUFS2	HP:0000007	Autosomal recessive inheritance
4720	NDUFS2	HP:0001488	Bilateral ptosis
4720	NDUFS2	HP:0008972	Decreased activity of mitochondrial respiratory chain
4720	NDUFS2	HP:0008947	Infantile muscular hypotonia
4720	NDUFS2	HP:0008936	Axial hypotonia
4720	NDUFS2	HP:0000114	Proximal tubulopathy
4720	NDUFS2	HP:0000110	Renal dysplasia
4720	NDUFS2	HP:0000104	Renal agenesis
4720	NDUFS2	HP:0001410	Decreased liver function
4720	NDUFS2	HP:0002033	Poor suck
4720	NDUFS2	HP:0002015	Dysphagia
4720	NDUFS2	HP:0002013	Vomiting
4720	NDUFS2	HP:0002086	Abnormality of the respiratory system
4720	NDUFS2	HP:0002098	Respiratory distress
4720	NDUFS2	HP:0002093	Respiratory insufficiency
4720	NDUFS2	HP:0002072	Chorea
4720	NDUFS2	HP:0002073	Progressive cerebellar ataxia
4720	NDUFS2	HP:0002151	Increased serum lactate
4720	NDUFS2	HP:0002119	Ventriculomegaly
4720	NDUFS2	HP:0002104	Apnea
4720	NDUFS2	HP:0011923	Decreased activity of mitochondrial complex I
4720	NDUFS2	HP:0002174	Postural tremor
4720	NDUFS2	HP:0003593	Infantile onset
4720	NDUFS2	HP:0002240	Hepatomegaly
4720	NDUFS2	HP:0003542	Increased serum pyruvate
4720	NDUFS2	HP:0200147	Neuronal loss in basal ganglia
4720	NDUFS2	HP:0200125	Mitochondrial respiratory chain defects
4720	NDUFS2	HP:0002283	Global brain atrophy
4720	NDUFS2	HP:0010663	Abnormality of thalamus morphology
4720	NDUFS2	HP:0007020	Progressive spastic paraplegia
4720	NDUFS2	HP:0011968	Feeding difficulties
4720	NDUFS2	HP:0008316	Abnormal mitochondria in muscle tissue
4720	NDUFS2	HP:0002363	Abnormal brainstem morphology
4720	NDUFS2	HP:0002376	Developmental regression
4720	NDUFS2	HP:0002339	Abnormal caudate nucleus morphology
4720	NDUFS2	HP:0002352	Leukoencephalopathy
4720	NDUFS2	HP:0007204	Diffuse white matter abnormalities
4720	NDUFS2	HP:0100660	Dyskinesia
4720	NDUFS2	HP:0009830	Peripheral neuropathy
4720	NDUFS2	HP:0025045	Abnormal brain lactate level by MRS
4720	NDUFS2	HP:0007159	Fluctuations in consciousness
4720	NDUFS2	HP:0007110	Central hypoventilation
4720	NDUFS2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4720	NDUFS2	HP:0000639	Nystagmus
4720	NDUFS2	HP:0000648	Optic atrophy
4720	NDUFS2	HP:0001947	Renal tubular acidosis
4720	NDUFS2	HP:0000618	Blindness
4720	NDUFS2	HP:0001943	Hypoglycemia
4720	NDUFS2	HP:0001941	Acidosis
4720	NDUFS2	HP:0000622	Blurred vision
4720	NDUFS2	HP:0000602	Ophthalmoplegia
4720	NDUFS2	HP:0000603	Central scotoma
4720	NDUFS2	HP:0001903	Anemia
4720	NDUFS2	HP:0004309	Ventricular preexcitation
4720	NDUFS2	HP:0004305	Involuntary movements
4720	NDUFS2	HP:0006999	Basal ganglia gliosis
4720	NDUFS2	HP:0012748	Focal T2 hyperintense brainstem lesion
4720	NDUFS2	HP:0100022	Abnormality of movement
4720	NDUFS2	HP:0012707	Elevated brain lactate level by MRS
4720	NDUFS2	HP:0000712	Emotional lability
4720	NDUFS2	HP:0012758	Neurodevelopmental delay
4720	NDUFS2	HP:0003198	Myopathy
4720	NDUFS2	HP:0003128	Lactic acidosis
4720	NDUFS2	HP:0012841	Retinal vascular tortuosity
4720	NDUFS2	HP:0000819	Diabetes mellitus
4720	NDUFS2	HP:0000817	Reduced eye contact
4720	NDUFS2	HP:0000998	Hypertrichosis
4720	NDUFS2	HP:0011675	Arrhythmia
4720	NDUFS2	HP:0007704	Paroxysmal involuntary eye movements
4720	NDUFS2	HP:0007763	Retinal telangiectasia
4720	NDUFS2	HP:0030085	Abnormal CSF lactate concentration
4720	NDUFS2	HP:0000252	Microcephaly
4720	NDUFS2	HP:0002878	Respiratory failure
4720	NDUFS2	HP:0001508	Failure to thrive
4720	NDUFS2	HP:0001511	Intrauterine growth retardation
4720	NDUFS2	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4720	NDUFS2	HP:0000365	Hearing impairment
4720	NDUFS2	HP:0001642	Pulmonic stenosis
4720	NDUFS2	HP:0001644	Dilated cardiomyopathy
4720	NDUFS2	HP:0001653	Mitral regurgitation
4720	NDUFS2	HP:0001629	Ventricular septal defect
4720	NDUFS2	HP:0001626	Abnormality of the cardiovascular system
4720	NDUFS2	HP:0001639	Hypertrophic cardiomyopathy
4720	NDUFS2	HP:0001635	Congestive heart failure
4720	NDUFS2	HP:0007941	Limited extraocular movements
4720	NDUFS2	HP:0007924	Slow decrease in visual acuity
4720	NDUFS2	HP:0000407	Sensorineural hearing impairment
4720	NDUFS2	HP:0000486	Strabismus
4720	NDUFS2	HP:0031546	Cardiac conduction abnormality
4720	NDUFS2	HP:0000496	Abnormality of eye movement
4720	NDUFS2	HP:0000488	Retinopathy
4720	NDUFS2	HP:0012444	Brain atrophy
4720	NDUFS2	HP:0000508	Ptosis
4720	NDUFS2	HP:0000505	Visual impairment
4720	NDUFS2	HP:0000580	Pigmentary retinopathy
4720	NDUFS2	HP:0000576	Centrocecal scotoma
4720	NDUFS2	HP:0000570	Abnormal saccadic eye movements
4720	NDUFS2	HP:0000543	Optic disc pallor
4722	NDUFS3	HP:0025116	Fetal distress
4722	NDUFS3	HP:0002490	Increased CSF lactate
4722	NDUFS3	HP:0001138	Optic neuropathy
4722	NDUFS3	HP:0010864	Intellectual disability, severe
4722	NDUFS3	HP:0002421	Poor head control
4722	NDUFS3	HP:0002415	Leukodystrophy
4722	NDUFS3	HP:0003737	Mitochondrial myopathy
4722	NDUFS3	HP:0001298	Encephalopathy
4722	NDUFS3	HP:0001290	Generalized hypotonia
4722	NDUFS3	HP:0025258	Stiff neck
4722	NDUFS3	HP:0001254	Lethargy
4722	NDUFS3	HP:0001250	Seizure
4722	NDUFS3	HP:0001252	Hypotonia
4722	NDUFS3	HP:0001251	Ataxia
4722	NDUFS3	HP:0001260	Dysarthria
4722	NDUFS3	HP:0001263	Global developmental delay
4722	NDUFS3	HP:0001257	Spasticity
4722	NDUFS3	HP:0002530	Axial dystonia
4722	NDUFS3	HP:0001347	Hyperreflexia
4722	NDUFS3	HP:0001332	Dystonia
4722	NDUFS3	HP:0001324	Muscle weakness
4722	NDUFS3	HP:0000007	Autosomal recessive inheritance
4722	NDUFS3	HP:0008972	Decreased activity of mitochondrial respiratory chain
4722	NDUFS3	HP:0000114	Proximal tubulopathy
4722	NDUFS3	HP:0002751	Kyphoscoliosis
4722	NDUFS3	HP:0002015	Dysphagia
4722	NDUFS3	HP:0002013	Vomiting
4722	NDUFS3	HP:0002093	Respiratory insufficiency
4722	NDUFS3	HP:0002073	Progressive cerebellar ataxia
4722	NDUFS3	HP:0002151	Increased serum lactate
4722	NDUFS3	HP:0002104	Apnea
4722	NDUFS3	HP:0011923	Decreased activity of mitochondrial complex I
4722	NDUFS3	HP:0002273	Tetraparesis
4722	NDUFS3	HP:0002240	Hepatomegaly
4722	NDUFS3	HP:0003542	Increased serum pyruvate
4722	NDUFS3	HP:0007020	Progressive spastic paraplegia
4722	NDUFS3	HP:0011968	Feeding difficulties
4722	NDUFS3	HP:0008316	Abnormal mitochondria in muscle tissue
4722	NDUFS3	HP:0002352	Leukoencephalopathy
4722	NDUFS3	HP:0009830	Peripheral neuropathy
4722	NDUFS3	HP:0003621	Juvenile onset
4722	NDUFS3	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4722	NDUFS3	HP:0000639	Nystagmus
4722	NDUFS3	HP:0000648	Optic atrophy
4722	NDUFS3	HP:0000618	Blindness
4722	NDUFS3	HP:0001943	Hypoglycemia
4722	NDUFS3	HP:0001941	Acidosis
4722	NDUFS3	HP:0000602	Ophthalmoplegia
4722	NDUFS3	HP:0001903	Anemia
4722	NDUFS3	HP:0012748	Focal T2 hyperintense brainstem lesion
4722	NDUFS3	HP:0100022	Abnormality of movement
4722	NDUFS3	HP:0000712	Emotional lability
4722	NDUFS3	HP:0003128	Lactic acidosis
4722	NDUFS3	HP:0000819	Diabetes mellitus
4722	NDUFS3	HP:0000817	Reduced eye contact
4722	NDUFS3	HP:0000998	Hypertrichosis
4722	NDUFS3	HP:0007704	Paroxysmal involuntary eye movements
4722	NDUFS3	HP:0000252	Microcephaly
4722	NDUFS3	HP:0001508	Failure to thrive
4722	NDUFS3	HP:0001511	Intrauterine growth retardation
4722	NDUFS3	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4722	NDUFS3	HP:0000365	Hearing impairment
4722	NDUFS3	HP:0001629	Ventricular septal defect
4722	NDUFS3	HP:0001639	Hypertrophic cardiomyopathy
4722	NDUFS3	HP:0000407	Sensorineural hearing impairment
4722	NDUFS3	HP:0001733	Pancreatitis
4722	NDUFS3	HP:0000486	Strabismus
4722	NDUFS3	HP:0000508	Ptosis
4722	NDUFS3	HP:0000580	Pigmentary retinopathy
4722	NDUFS3	HP:0000543	Optic disc pallor
4723	NDUFV1	HP:0025116	Fetal distress
4723	NDUFV1	HP:0002490	Increased CSF lactate
4723	NDUFV1	HP:0001138	Optic neuropathy
4723	NDUFV1	HP:0010864	Intellectual disability, severe
4723	NDUFV1	HP:0002421	Poor head control
4723	NDUFV1	HP:0002415	Leukodystrophy
4723	NDUFV1	HP:0003737	Mitochondrial myopathy
4723	NDUFV1	HP:0001298	Encephalopathy
4723	NDUFV1	HP:0001254	Lethargy
4723	NDUFV1	HP:0001250	Seizure
4723	NDUFV1	HP:0001252	Hypotonia
4723	NDUFV1	HP:0001251	Ataxia
4723	NDUFV1	HP:0001260	Dysarthria
4723	NDUFV1	HP:0001263	Global developmental delay
4723	NDUFV1	HP:0001257	Spasticity
4723	NDUFV1	HP:0003819	Death in childhood
4723	NDUFV1	HP:0001347	Hyperreflexia
4723	NDUFV1	HP:0001332	Dystonia
4723	NDUFV1	HP:0001324	Muscle weakness
4723	NDUFV1	HP:0000007	Autosomal recessive inheritance
4723	NDUFV1	HP:0001336	Myoclonus
4723	NDUFV1	HP:0008972	Decreased activity of mitochondrial respiratory chain
4723	NDUFV1	HP:0000114	Proximal tubulopathy
4723	NDUFV1	HP:0002013	Vomiting
4723	NDUFV1	HP:0002093	Respiratory insufficiency
4723	NDUFV1	HP:0002073	Progressive cerebellar ataxia
4723	NDUFV1	HP:0002151	Increased serum lactate
4723	NDUFV1	HP:0002104	Apnea
4723	NDUFV1	HP:0011923	Decreased activity of mitochondrial complex I
4723	NDUFV1	HP:0003593	Infantile onset
4723	NDUFV1	HP:0002240	Hepatomegaly
4723	NDUFV1	HP:0003542	Increased serum pyruvate
4723	NDUFV1	HP:0007020	Progressive spastic paraplegia
4723	NDUFV1	HP:0011968	Feeding difficulties
4723	NDUFV1	HP:0008316	Abnormal mitochondria in muscle tissue
4723	NDUFV1	HP:0002376	Developmental regression
4723	NDUFV1	HP:0002352	Leukoencephalopathy
4723	NDUFV1	HP:0009830	Peripheral neuropathy
4723	NDUFV1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4723	NDUFV1	HP:0000639	Nystagmus
4723	NDUFV1	HP:0000648	Optic atrophy
4723	NDUFV1	HP:0000618	Blindness
4723	NDUFV1	HP:0001943	Hypoglycemia
4723	NDUFV1	HP:0001942	Metabolic acidosis
4723	NDUFV1	HP:0001941	Acidosis
4723	NDUFV1	HP:0000602	Ophthalmoplegia
4723	NDUFV1	HP:0001903	Anemia
4723	NDUFV1	HP:0012748	Focal T2 hyperintense brainstem lesion
4723	NDUFV1	HP:0100022	Abnormality of movement
4723	NDUFV1	HP:0000712	Emotional lability
4723	NDUFV1	HP:0003128	Lactic acidosis
4723	NDUFV1	HP:0000819	Diabetes mellitus
4723	NDUFV1	HP:0000817	Reduced eye contact
4723	NDUFV1	HP:0000998	Hypertrichosis
4723	NDUFV1	HP:0007704	Paroxysmal involuntary eye movements
4723	NDUFV1	HP:0000256	Macrocephaly
4723	NDUFV1	HP:0000252	Microcephaly
4723	NDUFV1	HP:0001508	Failure to thrive
4723	NDUFV1	HP:0001511	Intrauterine growth retardation
4723	NDUFV1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4723	NDUFV1	HP:0000365	Hearing impairment
4723	NDUFV1	HP:0032794	Myoclonic seizure
4723	NDUFV1	HP:0001629	Ventricular septal defect
4723	NDUFV1	HP:0001639	Hypertrophic cardiomyopathy
4723	NDUFV1	HP:0000407	Sensorineural hearing impairment
4723	NDUFV1	HP:0000486	Strabismus
4723	NDUFV1	HP:0012444	Brain atrophy
4723	NDUFV1	HP:0000508	Ptosis
4723	NDUFV1	HP:0000580	Pigmentary retinopathy
4723	NDUFV1	HP:0000543	Optic disc pallor
4724	NDUFS4	HP:0025116	Fetal distress
4724	NDUFS4	HP:0002490	Increased CSF lactate
4724	NDUFS4	HP:0001138	Optic neuropathy
4724	NDUFS4	HP:0010864	Intellectual disability, severe
4724	NDUFS4	HP:0002421	Poor head control
4724	NDUFS4	HP:0002415	Leukodystrophy
4724	NDUFS4	HP:0003737	Mitochondrial myopathy
4724	NDUFS4	HP:0001298	Encephalopathy
4724	NDUFS4	HP:0001272	Cerebellar atrophy
4724	NDUFS4	HP:0001254	Lethargy
4724	NDUFS4	HP:0001250	Seizure
4724	NDUFS4	HP:0001252	Hypotonia
4724	NDUFS4	HP:0001251	Ataxia
4724	NDUFS4	HP:0001265	Hyporeflexia
4724	NDUFS4	HP:0001260	Dysarthria
4724	NDUFS4	HP:0001263	Global developmental delay
4724	NDUFS4	HP:0001257	Spasticity
4724	NDUFS4	HP:0001259	Coma
4724	NDUFS4	HP:0001399	Hepatic failure
4724	NDUFS4	HP:0000047	Hypospadias
4724	NDUFS4	HP:0001347	Hyperreflexia
4724	NDUFS4	HP:0008872	Feeding difficulties in infancy
4724	NDUFS4	HP:0001332	Dystonia
4724	NDUFS4	HP:0001324	Muscle weakness
4724	NDUFS4	HP:0000007	Autosomal recessive inheritance
4724	NDUFS4	HP:0001308	Tongue fasciculations
4724	NDUFS4	HP:0008972	Decreased activity of mitochondrial respiratory chain
4724	NDUFS4	HP:0000114	Proximal tubulopathy
4724	NDUFS4	HP:0001427	Mitochondrial inheritance
4724	NDUFS4	HP:0003348	Hyperalaninemia
4724	NDUFS4	HP:0002013	Vomiting
4724	NDUFS4	HP:0002093	Respiratory insufficiency
4724	NDUFS4	HP:0002069	Bilateral tonic-clonic seizure
4724	NDUFS4	HP:0002073	Progressive cerebellar ataxia
4724	NDUFS4	HP:0008160	3-hydroxydicarboxylic aciduria
4724	NDUFS4	HP:0003487	Babinski sign
4724	NDUFS4	HP:0002151	Increased serum lactate
4724	NDUFS4	HP:0002104	Apnea
4724	NDUFS4	HP:0011924	Decreased activity of mitochondrial complex III
4724	NDUFS4	HP:0011923	Decreased activity of mitochondrial complex I
4724	NDUFS4	HP:0002181	Cerebral edema
4724	NDUFS4	HP:0003593	Infantile onset
4724	NDUFS4	HP:0002240	Hepatomegaly
4724	NDUFS4	HP:0003546	Exercise intolerance
4724	NDUFS4	HP:0003542	Increased serum pyruvate
4724	NDUFS4	HP:0007020	Progressive spastic paraplegia
4724	NDUFS4	HP:0011968	Feeding difficulties
4724	NDUFS4	HP:0008316	Abnormal mitochondria in muscle tissue
4724	NDUFS4	HP:0002376	Developmental regression
4724	NDUFS4	HP:0002352	Leukoencephalopathy
4724	NDUFS4	HP:0003648	Lacticaciduria
4724	NDUFS4	HP:0100660	Dyskinesia
4724	NDUFS4	HP:0009830	Peripheral neuropathy
4724	NDUFS4	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4724	NDUFS4	HP:0004900	Severe lactic acidosis
4724	NDUFS4	HP:0000639	Nystagmus
4724	NDUFS4	HP:0000648	Optic atrophy
4724	NDUFS4	HP:0000618	Blindness
4724	NDUFS4	HP:0001943	Hypoglycemia
4724	NDUFS4	HP:0001941	Acidosis
4724	NDUFS4	HP:0000602	Ophthalmoplegia
4724	NDUFS4	HP:0001903	Anemia
4724	NDUFS4	HP:0006965	Acute necrotizing encephalopathy
4724	NDUFS4	HP:0012748	Focal T2 hyperintense brainstem lesion
4724	NDUFS4	HP:0100022	Abnormality of movement
4724	NDUFS4	HP:0000712	Emotional lability
4724	NDUFS4	HP:0012752	Focal T2 hypointense basal ganglia lesion
4724	NDUFS4	HP:0004481	Progressive macrocephaly
4724	NDUFS4	HP:0003128	Lactic acidosis
4724	NDUFS4	HP:0000819	Diabetes mellitus
4724	NDUFS4	HP:0000817	Reduced eye contact
4724	NDUFS4	HP:0003202	Skeletal muscle atrophy
4724	NDUFS4	HP:0003200	Ragged-red muscle fibers
4724	NDUFS4	HP:0000998	Hypertrichosis
4724	NDUFS4	HP:0000961	Cyanosis
4724	NDUFS4	HP:0007704	Paroxysmal involuntary eye movements
4724	NDUFS4	HP:0012240	Increased intramyocellular lipid droplets
4724	NDUFS4	HP:0000252	Microcephaly
4724	NDUFS4	HP:0032653	Elevated lactate:pyruvate ratio
4724	NDUFS4	HP:0002878	Respiratory failure
4724	NDUFS4	HP:0001522	Death in infancy
4724	NDUFS4	HP:0001508	Failure to thrive
4724	NDUFS4	HP:0001511	Intrauterine growth retardation
4724	NDUFS4	HP:0001510	Growth delay
4724	NDUFS4	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4724	NDUFS4	HP:0002922	Increased CSF protein concentration
4724	NDUFS4	HP:0005157	Concentric hypertrophic cardiomyopathy
4724	NDUFS4	HP:0000365	Hearing impairment
4724	NDUFS4	HP:0000331	Short chin
4724	NDUFS4	HP:0001629	Ventricular septal defect
4724	NDUFS4	HP:0001639	Hypertrophic cardiomyopathy
4724	NDUFS4	HP:0007965	Undetectable visual evoked potentials
4724	NDUFS4	HP:0000407	Sensorineural hearing impairment
4724	NDUFS4	HP:0000486	Strabismus
4724	NDUFS4	HP:0001744	Splenomegaly
4724	NDUFS4	HP:0000508	Ptosis
4724	NDUFS4	HP:0000582	Upslanted palpebral fissure
4724	NDUFS4	HP:0000580	Pigmentary retinopathy
4724	NDUFS4	HP:0000543	Optic disc pallor
4726	NDUFS6	HP:0025116	Fetal distress
4726	NDUFS6	HP:0002490	Increased CSF lactate
4726	NDUFS6	HP:0001138	Optic neuropathy
4726	NDUFS6	HP:0002421	Poor head control
4726	NDUFS6	HP:0002415	Leukodystrophy
4726	NDUFS6	HP:0003737	Mitochondrial myopathy
4726	NDUFS6	HP:0001298	Encephalopathy
4726	NDUFS6	HP:0001254	Lethargy
4726	NDUFS6	HP:0001250	Seizure
4726	NDUFS6	HP:0001252	Hypotonia
4726	NDUFS6	HP:0001251	Ataxia
4726	NDUFS6	HP:0001263	Global developmental delay
4726	NDUFS6	HP:0003811	Neonatal death
4726	NDUFS6	HP:0001324	Muscle weakness
4726	NDUFS6	HP:0000007	Autosomal recessive inheritance
4726	NDUFS6	HP:0000114	Proximal tubulopathy
4726	NDUFS6	HP:0002791	Hypoventilation
4726	NDUFS6	HP:0002013	Vomiting
4726	NDUFS6	HP:0005957	Breathing dysregulation
4726	NDUFS6	HP:0002093	Respiratory insufficiency
4726	NDUFS6	HP:0011923	Decreased activity of mitochondrial complex I
4726	NDUFS6	HP:0002240	Hepatomegaly
4726	NDUFS6	HP:0003542	Increased serum pyruvate
4726	NDUFS6	HP:0011968	Feeding difficulties
4726	NDUFS6	HP:0008316	Abnormal mitochondria in muscle tissue
4726	NDUFS6	HP:0002352	Leukoencephalopathy
4726	NDUFS6	HP:0003623	Neonatal onset
4726	NDUFS6	HP:0006829	Severe muscular hypotonia
4726	NDUFS6	HP:0000639	Nystagmus
4726	NDUFS6	HP:0000618	Blindness
4726	NDUFS6	HP:0001943	Hypoglycemia
4726	NDUFS6	HP:0012748	Focal T2 hyperintense brainstem lesion
4726	NDUFS6	HP:0003128	Lactic acidosis
4726	NDUFS6	HP:0000819	Diabetes mellitus
4726	NDUFS6	HP:0000817	Reduced eye contact
4726	NDUFS6	HP:0007704	Paroxysmal involuntary eye movements
4726	NDUFS6	HP:0000252	Microcephaly
4726	NDUFS6	HP:0001508	Failure to thrive
4726	NDUFS6	HP:0001511	Intrauterine growth retardation
4726	NDUFS6	HP:0001639	Hypertrophic cardiomyopathy
4726	NDUFS6	HP:0000407	Sensorineural hearing impairment
4726	NDUFS6	HP:0000486	Strabismus
4726	NDUFS6	HP:0000508	Ptosis
4726	NDUFS6	HP:0000543	Optic disc pallor
4728	NDUFS8	HP:0025116	Fetal distress
4728	NDUFS8	HP:0002490	Increased CSF lactate
4728	NDUFS8	HP:0002476	Primitive reflex
4728	NDUFS8	HP:0001138	Optic neuropathy
4728	NDUFS8	HP:0010864	Intellectual disability, severe
4728	NDUFS8	HP:0002421	Poor head control
4728	NDUFS8	HP:0002415	Leukodystrophy
4728	NDUFS8	HP:0003737	Mitochondrial myopathy
4728	NDUFS8	HP:0001298	Encephalopathy
4728	NDUFS8	HP:0001254	Lethargy
4728	NDUFS8	HP:0001250	Seizure
4728	NDUFS8	HP:0001252	Hypotonia
4728	NDUFS8	HP:0001251	Ataxia
4728	NDUFS8	HP:0001260	Dysarthria
4728	NDUFS8	HP:0001263	Global developmental delay
4728	NDUFS8	HP:0001257	Spasticity
4728	NDUFS8	HP:0002527	Falls
4728	NDUFS8	HP:0001348	Brisk reflexes
4728	NDUFS8	HP:0001347	Hyperreflexia
4728	NDUFS8	HP:0001332	Dystonia
4728	NDUFS8	HP:0001324	Muscle weakness
4728	NDUFS8	HP:0000007	Autosomal recessive inheritance
4728	NDUFS8	HP:0008972	Decreased activity of mitochondrial respiratory chain
4728	NDUFS8	HP:0000114	Proximal tubulopathy
4728	NDUFS8	HP:0002033	Poor suck
4728	NDUFS8	HP:0002013	Vomiting
4728	NDUFS8	HP:0005949	Apneic episodes in infancy
4728	NDUFS8	HP:0002093	Respiratory insufficiency
4728	NDUFS8	HP:0002073	Progressive cerebellar ataxia
4728	NDUFS8	HP:0002151	Increased serum lactate
4728	NDUFS8	HP:0002119	Ventriculomegaly
4728	NDUFS8	HP:0002104	Apnea
4728	NDUFS8	HP:0011923	Decreased activity of mitochondrial complex I
4728	NDUFS8	HP:0002171	Gliosis
4728	NDUFS8	HP:0010544	Vertical nystagmus
4728	NDUFS8	HP:0002240	Hepatomegaly
4728	NDUFS8	HP:0003542	Increased serum pyruvate
4728	NDUFS8	HP:0007020	Progressive spastic paraplegia
4728	NDUFS8	HP:0011968	Feeding difficulties
4728	NDUFS8	HP:0008316	Abnormal mitochondria in muscle tissue
4728	NDUFS8	HP:0002355	Difficulty walking
4728	NDUFS8	HP:0002352	Leukoencephalopathy
4728	NDUFS8	HP:0002329	Drowsiness
4728	NDUFS8	HP:0100660	Dyskinesia
4728	NDUFS8	HP:0009830	Peripheral neuropathy
4728	NDUFS8	HP:0003623	Neonatal onset
4728	NDUFS8	HP:0003621	Juvenile onset
4728	NDUFS8	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4728	NDUFS8	HP:0000639	Nystagmus
4728	NDUFS8	HP:0000648	Optic atrophy
4728	NDUFS8	HP:0000618	Blindness
4728	NDUFS8	HP:0001943	Hypoglycemia
4728	NDUFS8	HP:0001941	Acidosis
4728	NDUFS8	HP:0000602	Ophthalmoplegia
4728	NDUFS8	HP:0001903	Anemia
4728	NDUFS8	HP:0012748	Focal T2 hyperintense brainstem lesion
4728	NDUFS8	HP:0100022	Abnormality of movement
4728	NDUFS8	HP:0000712	Emotional lability
4728	NDUFS8	HP:0011448	Ankle clonus
4728	NDUFS8	HP:0003128	Lactic acidosis
4728	NDUFS8	HP:0000819	Diabetes mellitus
4728	NDUFS8	HP:0000817	Reduced eye contact
4728	NDUFS8	HP:0000998	Hypertrichosis
4728	NDUFS8	HP:0007704	Paroxysmal involuntary eye movements
4728	NDUFS8	HP:0000252	Microcephaly
4728	NDUFS8	HP:0001508	Failure to thrive
4728	NDUFS8	HP:0001511	Intrauterine growth retardation
4728	NDUFS8	HP:0001612	Weak cry
4728	NDUFS8	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4728	NDUFS8	HP:0000365	Hearing impairment
4728	NDUFS8	HP:0001629	Ventricular septal defect
4728	NDUFS8	HP:0001639	Hypertrophic cardiomyopathy
4728	NDUFS8	HP:0000407	Sensorineural hearing impairment
4728	NDUFS8	HP:0000486	Strabismus
4728	NDUFS8	HP:0012416	Hypercapnia
4728	NDUFS8	HP:0000508	Ptosis
4728	NDUFS8	HP:0000580	Pigmentary retinopathy
4728	NDUFS8	HP:0000543	Optic disc pallor
4729	NDUFV2	HP:0025116	Fetal distress
4729	NDUFV2	HP:0002490	Increased CSF lactate
4729	NDUFV2	HP:0001138	Optic neuropathy
4729	NDUFV2	HP:0010864	Intellectual disability, severe
4729	NDUFV2	HP:0002421	Poor head control
4729	NDUFV2	HP:0002415	Leukodystrophy
4729	NDUFV2	HP:0003737	Mitochondrial myopathy
4729	NDUFV2	HP:0001298	Encephalopathy
4729	NDUFV2	HP:0001290	Generalized hypotonia
4729	NDUFV2	HP:0001254	Lethargy
4729	NDUFV2	HP:0001250	Seizure
4729	NDUFV2	HP:0001252	Hypotonia
4729	NDUFV2	HP:0001251	Ataxia
4729	NDUFV2	HP:0001260	Dysarthria
4729	NDUFV2	HP:0001263	Global developmental delay
4729	NDUFV2	HP:0001257	Spasticity
4729	NDUFV2	HP:0001347	Hyperreflexia
4729	NDUFV2	HP:0001332	Dystonia
4729	NDUFV2	HP:0001324	Muscle weakness
4729	NDUFV2	HP:0000007	Autosomal recessive inheritance
4729	NDUFV2	HP:0008972	Decreased activity of mitochondrial respiratory chain
4729	NDUFV2	HP:0008936	Axial hypotonia
4729	NDUFV2	HP:0000114	Proximal tubulopathy
4729	NDUFV2	HP:0002013	Vomiting
4729	NDUFV2	HP:0002093	Respiratory insufficiency
4729	NDUFV2	HP:0002073	Progressive cerebellar ataxia
4729	NDUFV2	HP:0002151	Increased serum lactate
4729	NDUFV2	HP:0002104	Apnea
4729	NDUFV2	HP:0011923	Decreased activity of mitochondrial complex I
4729	NDUFV2	HP:0003593	Infantile onset
4729	NDUFV2	HP:0002240	Hepatomegaly
4729	NDUFV2	HP:0003542	Increased serum pyruvate
4729	NDUFV2	HP:0007020	Progressive spastic paraplegia
4729	NDUFV2	HP:0011968	Feeding difficulties
4729	NDUFV2	HP:0008316	Abnormal mitochondria in muscle tissue
4729	NDUFV2	HP:0002376	Developmental regression
4729	NDUFV2	HP:0002352	Leukoencephalopathy
4729	NDUFV2	HP:0009830	Peripheral neuropathy
4729	NDUFV2	HP:0003623	Neonatal onset
4729	NDUFV2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
4729	NDUFV2	HP:0000639	Nystagmus
4729	NDUFV2	HP:0000648	Optic atrophy
4729	NDUFV2	HP:0000618	Blindness
4729	NDUFV2	HP:0001943	Hypoglycemia
4729	NDUFV2	HP:0001941	Acidosis
4729	NDUFV2	HP:0000602	Ophthalmoplegia
4729	NDUFV2	HP:0001903	Anemia
4729	NDUFV2	HP:0012748	Focal T2 hyperintense brainstem lesion
4729	NDUFV2	HP:0100022	Abnormality of movement
4729	NDUFV2	HP:0000712	Emotional lability
4729	NDUFV2	HP:0003128	Lactic acidosis
4729	NDUFV2	HP:0000819	Diabetes mellitus
4729	NDUFV2	HP:0000817	Reduced eye contact
4729	NDUFV2	HP:0000998	Hypertrichosis
4729	NDUFV2	HP:0007704	Paroxysmal involuntary eye movements
4729	NDUFV2	HP:0000252	Microcephaly
4729	NDUFV2	HP:0001522	Death in infancy
4729	NDUFV2	HP:0001508	Failure to thrive
4729	NDUFV2	HP:0001511	Intrauterine growth retardation
4729	NDUFV2	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4729	NDUFV2	HP:0000365	Hearing impairment
4729	NDUFV2	HP:0001629	Ventricular septal defect
4729	NDUFV2	HP:0001639	Hypertrophic cardiomyopathy
4729	NDUFV2	HP:0000407	Sensorineural hearing impairment
4729	NDUFV2	HP:0000486	Strabismus
4729	NDUFV2	HP:0012444	Brain atrophy
4729	NDUFV2	HP:0000508	Ptosis
4729	NDUFV2	HP:0000580	Pigmentary retinopathy
4729	NDUFV2	HP:0000543	Optic disc pallor
4744	NEFH	HP:0002495	Impaired vibratory sensation
4744	NEFH	HP:0007210	Lower limb amyotrophy
4744	NEFH	HP:0003701	Proximal muscle weakness
4744	NEFH	HP:0001265	Hyporeflexia
4744	NEFH	HP:0001260	Dysarthria
4744	NEFH	HP:0001257	Spasticity
4744	NEFH	HP:0007373	Motor neuron atrophy
4744	NEFH	HP:0007354	Amyotrophic lateral sclerosis
4744	NEFH	HP:0007340	Lower limb muscle weakness
4744	NEFH	HP:0002515	Waddling gait
4744	NEFH	HP:0003828	Variable expressivity
4744	NEFH	HP:0003805	Rimmed vacuoles
4744	NEFH	HP:0001347	Hyperreflexia
4744	NEFH	HP:0001324	Muscle weakness
4744	NEFH	HP:0000007	Autosomal recessive inheritance
4744	NEFH	HP:0000006	Autosomal dominant inheritance
4744	NEFH	HP:0025425	Laryngospasm
4744	NEFH	HP:0002795	Abnormal respiratory system physiology
4744	NEFH	HP:0002021	Pyloric stenosis
4744	NEFH	HP:0002017	Nausea and vomiting
4744	NEFH	HP:0002015	Dysphagia
4744	NEFH	HP:0003324	Generalized muscle weakness
4744	NEFH	HP:0002094	Dyspnea
4744	NEFH	HP:0003394	Muscle spasm
4744	NEFH	HP:0003390	Sensory axonal neuropathy
4744	NEFH	HP:0003474	Somatic sensory dysfunction
4744	NEFH	HP:0003470	Paralysis
4744	NEFH	HP:0003487	Babinski sign
4744	NEFH	HP:0003484	Upper limb muscle weakness
4744	NEFH	HP:0003445	EMG: neuropathic changes
4744	NEFH	HP:0002180	Neurodegeneration
4744	NEFH	HP:0010535	Sleep apnea
4744	NEFH	HP:0003581	Adult onset
4744	NEFH	HP:0003555	Muscle fiber splitting
4744	NEFH	HP:0003557	Increased variability in muscle fiber diameter
4744	NEFH	HP:0007024	Pseudobulbar paralysis
4744	NEFH	HP:0002380	Fasciculations
4744	NEFH	HP:0002398	Degeneration of anterior horn cells
4744	NEFH	HP:0002359	Frequent falls
4744	NEFH	HP:0003676	Progressive
4744	NEFH	HP:0002314	Degeneration of the lateral corticospinal tracts
4744	NEFH	HP:0007141	Sensorimotor neuropathy
4744	NEFH	HP:0000739	Anxiety
4744	NEFH	HP:0000716	Depression
4744	NEFH	HP:0000712	Emotional lability
4744	NEFH	HP:0000713	Agitation
4744	NEFH	HP:0009129	Upper limb amyotrophy
4744	NEFH	HP:0003198	Myopathy
4744	NEFH	HP:0003236	Elevated circulating creatine kinase concentration
4744	NEFH	HP:0003202	Skeletal muscle atrophy
4744	NEFH	HP:0003200	Ragged-red muscle fibers
4744	NEFH	HP:0000217	Xerostomia
4744	NEFH	HP:0002878	Respiratory failure
4744	NEFH	HP:0012378	Fatigue
4744	NEFH	HP:0002936	Distal sensory impairment
4744	NEFH	HP:0030196	Fatigable weakness of respiratory muscles
4744	NEFH	HP:0030195	Fatigable weakness of swallowing muscles
4744	NEFH	HP:0030192	Fatigable weakness of bulbar muscles
4744	NEFH	HP:0001761	Pes cavus
4744	NEFH	HP:0012531	Pain
4747	NEFL	HP:0001178	Ulnar claw
4747	NEFL	HP:0001171	Split hand
4747	NEFL	HP:0001155	Abnormality of the hand
4747	NEFL	HP:0002495	Impaired vibratory sensation
4747	NEFL	HP:0002460	Distal muscle weakness
4747	NEFL	HP:0003798	Nemaline bodies
4747	NEFL	HP:0007327	Mixed demyelinating and axonal polyneuropathy
4747	NEFL	HP:0007328	Impaired pain sensation
4747	NEFL	HP:0010873	Cervical spinal cord atrophy
4747	NEFL	HP:0007230	Decreased distal sensory nerve action potential
4747	NEFL	HP:0007233	Clusters of axonal regeneration
4747	NEFL	HP:0007220	Demyelinating motor neuropathy
4747	NEFL	HP:0002403	Positive Romberg sign
4747	NEFL	HP:0003701	Proximal muscle weakness
4747	NEFL	HP:0001270	Motor delay
4747	NEFL	HP:0001288	Gait disturbance
4747	NEFL	HP:0001284	Areflexia
4747	NEFL	HP:0001252	Hypotonia
4747	NEFL	HP:0001251	Ataxia
4747	NEFL	HP:0001265	Hyporeflexia
4747	NEFL	HP:0001260	Dysarthria
4747	NEFL	HP:0001263	Global developmental delay
4747	NEFL	HP:0001257	Spasticity
4747	NEFL	HP:0007340	Lower limb muscle weakness
4747	NEFL	HP:0002540	Inability to walk
4747	NEFL	HP:0002515	Waddling gait
4747	NEFL	HP:0001371	Flexion contracture
4747	NEFL	HP:0000020	Urinary incontinence
4747	NEFL	HP:0000007	Autosomal recessive inheritance
4747	NEFL	HP:0001337	Tremor
4747	NEFL	HP:0000006	Autosomal dominant inheritance
4747	NEFL	HP:0002650	Scoliosis
4747	NEFL	HP:0008994	Proximal muscle weakness in lower limbs
4747	NEFL	HP:0008997	Proximal muscle weakness in upper limbs
4747	NEFL	HP:0008959	Distal upper limb muscle weakness
4747	NEFL	HP:0008956	Proximal lower limb amyotrophy
4747	NEFL	HP:0008944	Distal lower limb amyotrophy
4747	NEFL	HP:0002015	Dysphagia
4747	NEFL	HP:0100543	Cognitive impairment
4747	NEFL	HP:0002066	Gait ataxia
4747	NEFL	HP:0003394	Muscle spasm
4747	NEFL	HP:0003391	Gowers sign
4747	NEFL	HP:0002070	Limb ataxia
4747	NEFL	HP:0003376	Steppage gait
4747	NEFL	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
4747	NEFL	HP:0003383	Onion bulb formation
4747	NEFL	HP:0003380	Decreased number of peripheral myelinated nerve fibers
4747	NEFL	HP:0003477	Peripheral axonal neuropathy
4747	NEFL	HP:0003474	Somatic sensory dysfunction
4747	NEFL	HP:0003487	Babinski sign
4747	NEFL	HP:0003484	Upper limb muscle weakness
4747	NEFL	HP:0003481	Segmental peripheral demyelination/remyelination
4747	NEFL	HP:0003458	EMG: myopathic abnormalities
4747	NEFL	HP:0003431	Decreased motor nerve conduction velocity
4747	NEFL	HP:0003401	Paresthesia
4747	NEFL	HP:0003593	Infantile onset
4747	NEFL	HP:0200101	Decreased/absent ankle reflexes
4747	NEFL	HP:0010628	Facial palsy
4747	NEFL	HP:0002380	Fasciculations
4747	NEFL	HP:0003693	Distal amyotrophy
4747	NEFL	HP:0003691	Scapular winging
4747	NEFL	HP:0002359	Frequent falls
4747	NEFL	HP:0002378	Hand tremor
4747	NEFL	HP:0002346	Head tremor
4747	NEFL	HP:0003677	Slowly progressive
4747	NEFL	HP:0002317	Unsteady gait
4747	NEFL	HP:0010831	Impaired proprioception
4747	NEFL	HP:0007141	Sensorimotor neuropathy
4747	NEFL	HP:0007149	Distal upper limb amyotrophy
4747	NEFL	HP:0003621	Juvenile onset
4747	NEFL	HP:0006886	Impaired distal vibration sensation
4747	NEFL	HP:0000639	Nystagmus
4747	NEFL	HP:0000609	Optic nerve hypoplasia
4747	NEFL	HP:0009053	Distal lower limb muscle weakness
4747	NEFL	HP:0009046	Difficulty running
4747	NEFL	HP:0009025	Increased connective tissue
4747	NEFL	HP:0009027	Foot dorsiflexor weakness
4747	NEFL	HP:0004336	Myelin outfoldings
4747	NEFL	HP:0011402	Demyelinating sensory neuropathy
4747	NEFL	HP:0000762	Decreased nerve conduction velocity
4747	NEFL	HP:0012785	Flexion contracture of finger
4747	NEFL	HP:0011463	Childhood onset
4747	NEFL	HP:0009130	Hand muscle atrophy
4747	NEFL	HP:0004463	Absent brainstem auditory responses
4747	NEFL	HP:0012896	Abnormal motor evoked potentials
4747	NEFL	HP:0003236	Elevated circulating creatine kinase concentration
4747	NEFL	HP:0003202	Skeletal muscle atrophy
4747	NEFL	HP:0000218	High palate
4747	NEFL	HP:0002936	Distal sensory impairment
4747	NEFL	HP:0030319	Weakness of facial musculature
4747	NEFL	HP:0000407	Sensorineural hearing impairment
4747	NEFL	HP:0012473	Tongue atrophy
4747	NEFL	HP:0030237	Hand muscle weakness
4747	NEFL	HP:0030235	Extremely elevated creatine kinase
4747	NEFL	HP:0012452	Restless legs
4747	NEFL	HP:0001765	Hammertoe
4747	NEFL	HP:0001760	Abnormal foot morphology
4747	NEFL	HP:0001761	Pes cavus
4747	NEFL	HP:0000508	Ptosis
4747	NEFL	HP:0001884	Talipes calcaneovalgus
4750	NEK1	HP:0001177	Preaxial hand polydactyly
4750	NEK1	HP:0001156	Brachydactyly
4750	NEK1	HP:0002483	Bulbar signs
4750	NEK1	HP:0001162	Postaxial hand polydactyly
4750	NEK1	HP:0001161	Hand polydactyly
4750	NEK1	HP:0410170	Hippocampal atrophy
4750	NEK1	HP:0001270	Motor delay
4750	NEK1	HP:0001260	Dysarthria
4750	NEK1	HP:0001263	Global developmental delay
4750	NEK1	HP:0001257	Spasticity
4750	NEK1	HP:0002566	Intestinal malrotation
4750	NEK1	HP:0006101	Finger syndactyly
4750	NEK1	HP:0100874	Thick hair
4750	NEK1	HP:0006042	Y-shaped metacarpals
4750	NEK1	HP:0007373	Motor neuron atrophy
4750	NEK1	HP:0007354	Amyotrophic lateral sclerosis
4750	NEK1	HP:0010984	Digenic inheritance
4750	NEK1	HP:0000062	Ambiguous genitalia
4750	NEK1	HP:0001395	Hepatic fibrosis
4750	NEK1	HP:0000054	Micropenis
4750	NEK1	HP:0000050	Hypoplastic male external genitalia
4750	NEK1	HP:0001347	Hyperreflexia
4750	NEK1	HP:0000007	Autosomal recessive inheritance
4750	NEK1	HP:0000006	Autosomal dominant inheritance
4750	NEK1	HP:0001302	Pachygyria
4750	NEK1	HP:0001320	Cerebellar vermis hypoplasia
4750	NEK1	HP:0000199	Tongue nodules
4750	NEK1	HP:0000190	Abnormal oral frenulum morphology
4750	NEK1	HP:0000161	Median cleft lip
4750	NEK1	HP:0000175	Cleft palate
4750	NEK1	HP:0000171	Microglossia
4750	NEK1	HP:0025425	Laryngospasm
4750	NEK1	HP:0006342	Peg-shaped maxillary lateral incisors
4750	NEK1	HP:0410033	Unilateral alveolar cleft of maxilla
4750	NEK1	HP:0008947	Infantile muscular hypotonia
4750	NEK1	HP:0006289	Agenesis of central incisor
4750	NEK1	HP:0000113	Polycystic kidney dysplasia
4750	NEK1	HP:0002795	Abnormal respiratory system physiology
4750	NEK1	HP:0002789	Tachypnea
4750	NEK1	HP:0002017	Nausea and vomiting
4750	NEK1	HP:0002015	Dysphagia
4750	NEK1	HP:0003324	Generalized muscle weakness
4750	NEK1	HP:0011819	Submucous cleft soft palate
4750	NEK1	HP:0011802	Hamartoma of tongue
4750	NEK1	HP:0002089	Pulmonary hypoplasia
4750	NEK1	HP:0002094	Dyspnea
4750	NEK1	HP:0002093	Respiratory insufficiency
4750	NEK1	HP:0002069	Bilateral tonic-clonic seizure
4750	NEK1	HP:0003394	Muscle spasm
4750	NEK1	HP:0003470	Paralysis
4750	NEK1	HP:0002104	Apnea
4750	NEK1	HP:0002180	Neurodegeneration
4750	NEK1	HP:0003596	Middle age onset
4750	NEK1	HP:0002273	Tetraparesis
4750	NEK1	HP:0100702	Arachnoid cyst
4750	NEK1	HP:0003584	Late onset
4750	NEK1	HP:0100732	Pancreatic fibrosis
4750	NEK1	HP:0002340	Caudate atrophy
4750	NEK1	HP:0004987	Mesomelic leg shortening
4750	NEK1	HP:0009826	Limb undergrowth
4750	NEK1	HP:0009776	Adactyly
4750	NEK1	HP:0010068	Broad first metatarsal
4750	NEK1	HP:0010055	Broad hallux
4750	NEK1	HP:0000679	Taurodontia
4750	NEK1	HP:0000695	Natal tooth
4750	NEK1	HP:0000685	Hypoplasia of teeth
4750	NEK1	HP:0004322	Short stature
4750	NEK1	HP:0006956	Lateral ventricle dilatation
4750	NEK1	HP:0030680	Abnormality of cardiovascular system morphology
4750	NEK1	HP:0003026	Short long bone
4750	NEK1	HP:0003027	Mesomelia
4750	NEK1	HP:0000768	Pectus carinatum
4750	NEK1	HP:0000739	Anxiety
4750	NEK1	HP:0000750	Delayed speech and language development
4750	NEK1	HP:0000716	Depression
4750	NEK1	HP:0000712	Emotional lability
4750	NEK1	HP:0000713	Agitation
4750	NEK1	HP:0000774	Narrow chest
4750	NEK1	HP:0000773	Short ribs
4750	NEK1	HP:0010100	Complete duplication of hallux phalanx
4750	NEK1	HP:0005766	Disproportionate shortening of the tibia
4750	NEK1	HP:0005736	Short tibia
4750	NEK1	HP:0000926	Platyspondyly
4750	NEK1	HP:0000888	Horizontal ribs
4750	NEK1	HP:0010297	Bifid tongue
4750	NEK1	HP:0040019	Finger clinodactyly
4750	NEK1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
4750	NEK1	HP:0000895	Lateral clavicle hook
4750	NEK1	HP:0005873	Polysyndactyly of hallux
4750	NEK1	HP:0003202	Skeletal muscle atrophy
4750	NEK1	HP:0005817	Postaxial polysyndactyly of foot
4750	NEK1	HP:0007768	Central retinal vessel vascular tortuosity
4750	NEK1	HP:0000248	Brachycephaly
4750	NEK1	HP:0000220	Velopharyngeal insufficiency
4750	NEK1	HP:0000217	Xerostomia
4750	NEK1	HP:0002878	Respiratory failure
4750	NEK1	HP:0000218	High palate
4750	NEK1	HP:0011087	Talon cusp
4750	NEK1	HP:0012378	Fatigue
4750	NEK1	HP:0001600	Abnormality of the larynx
4750	NEK1	HP:0030196	Fatigable weakness of respiratory muscles
4750	NEK1	HP:0030195	Fatigable weakness of swallowing muscles
4750	NEK1	HP:0030192	Fatigable weakness of bulbar muscles
4750	NEK1	HP:0005180	Tricuspid regurgitation
4750	NEK1	HP:0000347	Micrognathia
4750	NEK1	HP:0001629	Ventricular septal defect
4750	NEK1	HP:0001631	Atrial septal defect
4750	NEK1	HP:0006695	Atrioventricular canal defect
4750	NEK1	HP:0005349	Hypoplasia of the epiglottis
4750	NEK1	HP:0006644	Thoracic dysplasia
4750	NEK1	HP:0000405	Conductive hearing impairment
4750	NEK1	HP:0001789	Hydrops fetalis
4750	NEK1	HP:0000411	Protruding ear
4750	NEK1	HP:0000431	Wide nasal bridge
4750	NEK1	HP:0001841	Preaxial foot polydactyly
4750	NEK1	HP:0000506	Telecanthus
4750	NEK1	HP:0000556	Retinal dystrophy
4750	NEK1	HP:0000540	Hypermetropia
4750	NEK1	HP:0012531	Pain
4751	NEK2	HP:0001249	Intellectual disability
4751	NEK2	HP:0008736	Hypoplasia of penis
4751	NEK2	HP:0001347	Hyperreflexia
4751	NEK2	HP:0000035	Abnormal testis morphology
4751	NEK2	HP:0000007	Autosomal recessive inheritance
4751	NEK2	HP:0000135	Hypogonadism
4751	NEK2	HP:0007675	Progressive night blindness
4751	NEK2	HP:0005978	Type II diabetes mellitus
4751	NEK2	HP:0000639	Nystagmus
4751	NEK2	HP:0000648	Optic atrophy
4751	NEK2	HP:0000618	Blindness
4751	NEK2	HP:0000613	Photophobia
4751	NEK2	HP:0000602	Ophthalmoplegia
4751	NEK2	HP:0000842	Hyperinsulinemia
4751	NEK2	HP:0000987	Atypical scarring of skin
4751	NEK2	HP:0008046	Abnormal retinal vascular morphology
4751	NEK2	HP:0007703	Abnormality of retinal pigmentation
4751	NEK2	HP:0001513	Obesity
4751	NEK2	HP:0000407	Sensorineural hearing impairment
4751	NEK2	HP:0000405	Conductive hearing impairment
4751	NEK2	HP:0000463	Anteverted nares
4751	NEK2	HP:0000431	Wide nasal bridge
4751	NEK2	HP:0000518	Cataract
4751	NEK2	HP:0000510	Rod-cone dystrophy
4751	NEK2	HP:0000512	Abnormal electroretinogram
4751	NEK2	HP:0000505	Visual impairment
4751	NEK2	HP:0000501	Glaucoma
4751	NEK2	HP:0000563	Keratoconus
4758	NEU1	HP:0009891	Underdeveloped supraorbital ridges
4758	NEU1	HP:0010864	Intellectual disability, severe
4758	NEU1	HP:0001290	Generalized hypotonia
4758	NEU1	HP:0001270	Motor delay
4758	NEU1	HP:0001288	Gait disturbance
4758	NEU1	HP:0001250	Seizure
4758	NEU1	HP:0001252	Hypotonia
4758	NEU1	HP:0001251	Ataxia
4758	NEU1	HP:0001249	Intellectual disability
4758	NEU1	HP:0001263	Global developmental delay
4758	NEU1	HP:0001257	Spasticity
4758	NEU1	HP:0002505	Loss of ambulation
4758	NEU1	HP:0000093	Proteinuria
4758	NEU1	HP:0012061	Urinary excretion of sialylated oligosaccharides
4758	NEU1	HP:0000077	Abnormality of the kidney
4758	NEU1	HP:0000023	Inguinal hernia
4758	NEU1	HP:0001350	Slurred speech
4758	NEU1	HP:0001347	Hyperreflexia
4758	NEU1	HP:0001324	Muscle weakness
4758	NEU1	HP:0000007	Autosomal recessive inheritance
4758	NEU1	HP:0001337	Tremor
4758	NEU1	HP:0001336	Myoclonus
4758	NEU1	HP:0001310	Dysmetria
4758	NEU1	HP:0002652	Skeletal dysplasia
4758	NEU1	HP:0002650	Scoliosis
4758	NEU1	HP:0000179	Thick lower lip vermilion
4758	NEU1	HP:0008947	Infantile muscular hypotonia
4758	NEU1	HP:0001433	Hepatosplenomegaly
4758	NEU1	HP:0002750	Delayed skeletal maturation
4758	NEU1	HP:0003355	Aminoaciduria
4758	NEU1	HP:0002015	Dysphagia
4758	NEU1	HP:0002007	Frontal bossing
4758	NEU1	HP:0003312	Abnormal form of the vertebral bodies
4758	NEU1	HP:0002086	Abnormality of the respiratory system
4758	NEU1	HP:0002061	Lower limb spasticity
4758	NEU1	HP:0010442	Polydactyly
4758	NEU1	HP:0002123	Generalized myoclonic seizure
4758	NEU1	HP:0003461	Increased urinary O-linked sialopeptides
4758	NEU1	HP:0002167	Abnormality of speech or vocalization
4758	NEU1	HP:0002240	Hepatomegaly
4758	NEU1	HP:0010729	Cherry red spot of the macula
4758	NEU1	HP:0100790	Hernia
4758	NEU1	HP:0010655	Epiphyseal stippling
4758	NEU1	HP:0011947	Respiratory tract infection
4758	NEU1	HP:0002376	Developmental regression
4758	NEU1	HP:0001009	Telangiectasia
4758	NEU1	HP:0002353	EEG abnormality
4758	NEU1	HP:0010808	Protruding tongue
4758	NEU1	HP:0030506	Yellow/white lesions of the retina
4758	NEU1	HP:0000639	Nystagmus
4758	NEU1	HP:0000648	Optic atrophy
4758	NEU1	HP:0001922	Vacuolated lymphocytes
4758	NEU1	HP:0004322	Short stature
4758	NEU1	HP:0004333	Bone-marrow foam cells
4758	NEU1	HP:0100022	Abnormality of movement
4758	NEU1	HP:0000768	Pectus carinatum
4758	NEU1	HP:0000762	Decreased nerve conduction velocity
4758	NEU1	HP:0003115	Abnormal EKG
4758	NEU1	HP:0004554	Generalized hypertrichosis
4758	NEU1	HP:0003202	Skeletal muscle atrophy
4758	NEU1	HP:0003271	Visceromegaly
4758	NEU1	HP:0010306	Short thorax
4758	NEU1	HP:0000969	Edema
4758	NEU1	HP:0000967	Petechiae
4758	NEU1	HP:0000962	Hyperkeratosis
4758	NEU1	HP:0000943	Dysostosis multiplex
4758	NEU1	HP:0000282	Facial edema
4758	NEU1	HP:0000280	Coarse facial features
4758	NEU1	HP:0000256	Macrocephaly
4758	NEU1	HP:0007750	Hypoplasia of the fovea
4758	NEU1	HP:0002808	Kyphosis
4758	NEU1	HP:0000238	Hydrocephalus
4758	NEU1	HP:0000212	Gingival overgrowth
4758	NEU1	HP:0001541	Ascites
4758	NEU1	HP:0001537	Umbilical hernia
4758	NEU1	HP:0001618	Dysphonia
4758	NEU1	HP:0000365	Hearing impairment
4758	NEU1	HP:0000369	Low-set ears
4758	NEU1	HP:0000348	High forehead
4758	NEU1	HP:0001627	Abnormal heart morphology
4758	NEU1	HP:0001640	Cardiomegaly
4758	NEU1	HP:0001638	Cardiomyopathy
4758	NEU1	HP:0007957	Corneal opacity
4758	NEU1	HP:0000407	Sensorineural hearing impairment
4758	NEU1	HP:0000486	Strabismus
4758	NEU1	HP:0000488	Retinopathy
4758	NEU1	HP:0001789	Hydrops fetalis
4758	NEU1	HP:0001744	Splenomegaly
4758	NEU1	HP:0000431	Wide nasal bridge
4758	NEU1	HP:0011276	Vascular skin abnormality
4758	NEU1	HP:0000518	Cataract
4758	NEU1	HP:0000519	Developmental cataract
4758	NEU1	HP:0000529	Progressive visual loss
4758	NEU1	HP:0000505	Visual impairment
4758	NEU1	HP:0000572	Visual loss
4760	NEUROD1	HP:0002594	Pancreatic hypoplasia
4760	NEUROD1	HP:0000077	Abnormality of the kidney
4760	NEUROD1	HP:0012028	Hepatocellular adenoma
4760	NEUROD1	HP:0000006	Autosomal dominant inheritance
4760	NEUROD1	HP:0000119	Abnormality of the genitourinary system
4760	NEUROD1	HP:0000112	Nephropathy
4760	NEUROD1	HP:0000107	Renal cyst
4760	NEUROD1	HP:0005978	Type II diabetes mellitus
4760	NEUROD1	HP:0008255	Transient neonatal diabetes mellitus
4760	NEUROD1	HP:0003584	Late onset
4760	NEUROD1	HP:0004924	Abnormal oral glucose tolerance
4760	NEUROD1	HP:0004904	Maturity-onset diabetes of the young
4760	NEUROD1	HP:0031819	Increased waist to hip ratio
4760	NEUROD1	HP:0001953	Diabetic ketoacidosis
4760	NEUROD1	HP:0001952	Glucose intolerance
4760	NEUROD1	HP:0001998	Neonatal hypoglycemia
4760	NEUROD1	HP:0003076	Glycosuria
4760	NEUROD1	HP:0003074	Hyperglycemia
4760	NEUROD1	HP:0030794	Abnormal circulating C-peptide concentration
4760	NEUROD1	HP:0000855	Insulin resistance
4760	NEUROD1	HP:0000831	Insulin-resistant diabetes mellitus
4760	NEUROD1	HP:0000825	Hyperinsulinemic hypoglycemia
4760	NEUROD1	HP:0040214	Abnormal circulating insulin concentration
4760	NEUROD1	HP:0040217	Elevated hemoglobin A1c
4760	NEUROD1	HP:0040216	Hypoinsulinemia
4760	NEUROD1	HP:0000956	Acanthosis nigricans
4760	NEUROD1	HP:0030057	Autoimmune antibody positivity
4760	NEUROD1	HP:0025502	Overweight
4760	NEUROD1	HP:0001520	Large for gestational age
4760	NEUROD1	HP:0001511	Intrauterine growth retardation
4760	NEUROD1	HP:0001513	Obesity
4760	NEUROD1	HP:0001738	Exocrine pancreatic insufficiency
4760	NEUROD1	HP:0000488	Retinopathy
4761	NEUROD2	HP:0002487	Hyperkinetic movements
4761	NEUROD2	HP:0010851	EEG with burst suppression
4761	NEUROD2	HP:0010850	EEG with spike-wave complexes
4761	NEUROD2	HP:0002421	Poor head control
4761	NEUROD2	HP:0001272	Cerebellar atrophy
4761	NEUROD2	HP:0001250	Seizure
4761	NEUROD2	HP:0001249	Intellectual disability
4761	NEUROD2	HP:0001266	Choreoathetosis
4761	NEUROD2	HP:0001263	Global developmental delay
4761	NEUROD2	HP:0001257	Spasticity
4761	NEUROD2	HP:0007359	Focal-onset seizure
4761	NEUROD2	HP:0002540	Inability to walk
4761	NEUROD2	HP:0002521	Hypsarrhythmia
4761	NEUROD2	HP:0002506	Diffuse cerebral atrophy
4761	NEUROD2	HP:0000070	Ureterocele
4761	NEUROD2	HP:0025336	Delayed ability to sit
4761	NEUROD2	HP:0000054	Micropenis
4761	NEUROD2	HP:0001332	Dystonia
4761	NEUROD2	HP:0001337	Tremor
4761	NEUROD2	HP:0000006	Autosomal dominant inheritance
4761	NEUROD2	HP:0001336	Myoclonus
4761	NEUROD2	HP:0001302	Pachygyria
4761	NEUROD2	HP:0000175	Cleft palate
4761	NEUROD2	HP:0008947	Infantile muscular hypotonia
4761	NEUROD2	HP:0008936	Axial hypotonia
4761	NEUROD2	HP:0000110	Renal dysplasia
4761	NEUROD2	HP:0002015	Dysphagia
4761	NEUROD2	HP:0002069	Bilateral tonic-clonic seizure
4761	NEUROD2	HP:0002079	Hypoplasia of the corpus callosum
4761	NEUROD2	HP:0002059	Cerebral atrophy
4761	NEUROD2	HP:0002121	Generalized non-motor (absence) seizure
4761	NEUROD2	HP:0002131	Episodic ataxia
4761	NEUROD2	HP:0002188	Delayed CNS myelination
4761	NEUROD2	HP:0003593	Infantile onset
4761	NEUROD2	HP:0100704	Cerebral visual impairment
4761	NEUROD2	HP:0100716	Self-injurious behavior
4761	NEUROD2	HP:0200134	Epileptic encephalopathy
4761	NEUROD2	HP:0002360	Sleep disturbance
4761	NEUROD2	HP:0002376	Developmental regression
4761	NEUROD2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
4761	NEUROD2	HP:0002353	EEG abnormality
4761	NEUROD2	HP:0007204	Diffuse white matter abnormalities
4761	NEUROD2	HP:0100660	Dyskinesia
4761	NEUROD2	HP:0010819	Atonic seizure
4761	NEUROD2	HP:0010818	Generalized tonic seizure
4761	NEUROD2	HP:0031936	Delayed ability to walk
4761	NEUROD2	HP:0000752	Hyperactivity
4761	NEUROD2	HP:0000729	Autistic behavior
4761	NEUROD2	HP:0010174	Broad phalanx of the toes
4761	NEUROD2	HP:0000826	Precocious puberty
4761	NEUROD2	HP:0030891	Periventricular white matter hyperintensities
4761	NEUROD2	HP:0009381	Short finger
4761	NEUROD2	HP:0000252	Microcephaly
4761	NEUROD2	HP:0001537	Umbilical hernia
4761	NEUROD2	HP:0001508	Failure to thrive
4761	NEUROD2	HP:0001500	Broad finger
4761	NEUROD2	HP:0000340	Sloping forehead
4761	NEUROD2	HP:0001629	Ventricular septal defect
4761	NEUROD2	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
4761	NEUROD2	HP:0011169	Generalized clonic seizure
4761	NEUROD2	HP:0005280	Depressed nasal bridge
4761	NEUROD2	HP:0000483	Astigmatism
4761	NEUROD2	HP:0000486	Strabismus
4761	NEUROD2	HP:0012469	Infantile spasms
4761	NEUROD2	HP:0000463	Anteverted nares
4761	NEUROD2	HP:0012448	Delayed myelination
4761	NEUROD2	HP:0012554	Absent thumbnail
4761	NEUROD2	HP:0000565	Esotropia
4763	NF1	HP:0001176	Large hands
4763	NF1	HP:0025105	Nevus anemicus
4763	NF1	HP:0002463	Language impairment
4763	NF1	HP:0008629	Pulsatile tinnitus
4763	NF1	HP:0009928	Thick nasal alae
4763	NF1	HP:0032252	Granuloma
4763	NF1	HP:0007236	Recurrent subcortical infarcts
4763	NF1	HP:0002414	Spina bifida
4763	NF1	HP:0002410	Aqueductal stenosis
4763	NF1	HP:0001297	Stroke
4763	NF1	HP:0025269	Panic attack
4763	NF1	HP:0001293	Cranial nerve compression
4763	NF1	HP:0100817	Renovascular hypertension
4763	NF1	HP:0001271	Polyneuropathy
4763	NF1	HP:0001256	Intellectual disability, mild
4763	NF1	HP:0001250	Seizure
4763	NF1	HP:0001252	Hypotonia
4763	NF1	HP:0001249	Intellectual disability
4763	NF1	HP:0001263	Global developmental delay
4763	NF1	HP:0002574	Episodic abdominal pain
4763	NF1	HP:0410263	Brain imaging abnormality
4763	NF1	HP:0031023	Multiple mucosal neuromas
4763	NF1	HP:0007359	Focal-onset seizure
4763	NF1	HP:0007340	Lower limb muscle weakness
4763	NF1	HP:0008678	Renal hypoplasia/aplasia
4763	NF1	HP:0002521	Hypsarrhythmia
4763	NF1	HP:0000096	Glomerular sclerosis
4763	NF1	HP:0000093	Proteinuria
4763	NF1	HP:0012062	Bone cyst
4763	NF1	HP:0001382	Joint hypermobility
4763	NF1	HP:0000053	Macroorchidism
4763	NF1	HP:0000028	Cryptorchidism
4763	NF1	HP:0007565	Multiple cafe-au-lait spots
4763	NF1	HP:0007524	Atypical neurofibromatosis
4763	NF1	HP:0001328	Specific learning disability
4763	NF1	HP:0001324	Muscle weakness
4763	NF1	HP:0001342	Cerebral hemorrhage
4763	NF1	HP:0002668	Paraganglioma
4763	NF1	HP:0001337	Tremor
4763	NF1	HP:0000006	Autosomal dominant inheritance
4763	NF1	HP:0002666	Pheochromocytoma
4763	NF1	HP:0002640	Hypertension associated with pheochromocytoma
4763	NF1	HP:0002650	Scoliosis
4763	NF1	HP:0032458	Narrowing of medullary canal
4763	NF1	HP:0002797	Osteolysis
4763	NF1	HP:0001480	Freckling
4763	NF1	HP:0031284	Flushing
4763	NF1	HP:0006297	Enamel hypoplasia
4763	NF1	HP:0000126	Hydronephrosis
4763	NF1	HP:0001428	Somatic mutation
4763	NF1	HP:0002751	Kyphoscoliosis
4763	NF1	HP:0002018	Nausea
4763	NF1	HP:0003345	Elevated urinary norepinephrine
4763	NF1	HP:0002015	Dysphagia
4763	NF1	HP:0003307	Hyperlordosis
4763	NF1	HP:0011803	Bifid nose
4763	NF1	HP:0011800	Midface retrusion
4763	NF1	HP:0002088	Abnormal lung morphology
4763	NF1	HP:0002092	Pulmonary arterial hypertension
4763	NF1	HP:0002079	Hypoplasia of the corpus callosum
4763	NF1	HP:0002076	Migraine
4763	NF1	HP:0002057	Prominent glabella
4763	NF1	HP:0100585	Telangiectasia of the skin
4763	NF1	HP:0011703	Sinus tachycardia
4763	NF1	HP:0002162	Low posterior hairline
4763	NF1	HP:0010532	Paroxysmal vertigo
4763	NF1	HP:0009592	Astrocytoma
4763	NF1	HP:0003596	Middle age onset
4763	NF1	HP:0003593	Infantile onset
4763	NF1	HP:0003577	Congenital onset
4763	NF1	HP:0003574	Positive regitine blocking test
4763	NF1	HP:0003528	Elevated calcitonin
4763	NF1	HP:0100763	Abnormality of the lymphatic system
4763	NF1	HP:0100775	Dural ectasia
4763	NF1	HP:0009733	Glioma
4763	NF1	HP:0009732	Plexiform neurofibroma
4763	NF1	HP:0009735	Spinal neurofibromas
4763	NF1	HP:0009734	Optic nerve glioma
4763	NF1	HP:0009737	Lisch nodules
4763	NF1	HP:0009736	Tibial pseudarthrosis
4763	NF1	HP:0009711	Retinal capillary hemangioma
4763	NF1	HP:0100723	Gastrointestinal stroma tumor
4763	NF1	HP:0100749	Chest pain
4763	NF1	HP:0007018	Attention deficit hyperactivity disorder
4763	NF1	HP:0011979	Elevated urinary dopamine
4763	NF1	HP:0430022	Abnormality of the sphenoid sinus
4763	NF1	HP:0020073	Hypopigmented macule
4763	NF1	HP:0020035	Lower limb dysmetria
4763	NF1	HP:0002385	Paraparesis
4763	NF1	HP:0001067	Neurofibromas
4763	NF1	HP:0001069	Episodic hyperhidrosis
4763	NF1	HP:0001034	Hypermelanotic macule
4763	NF1	HP:0002360	Sleep disturbance
4763	NF1	HP:0001028	Hemangioma
4763	NF1	HP:0002354	Memory impairment
4763	NF1	HP:0002315	Headache
4763	NF1	HP:0002331	Recurrent paroxysmal headache
4763	NF1	HP:0200034	Papule
4763	NF1	HP:0001095	Hypertensive retinopathy
4763	NF1	HP:0001072	Thickened skin
4763	NF1	HP:0010796	Brainstem glioma
4763	NF1	HP:0010795	Cerebellar glioma
4763	NF1	HP:0010794	Impaired visuospatial constructive cognition
4763	NF1	HP:0100697	Neurofibrosarcoma
4763	NF1	HP:0100698	Subcutaneous neurofibromas
4763	NF1	HP:0003639	Elevated urinary epinephrine
4763	NF1	HP:0004944	Dilatation of the cerebral artery
4763	NF1	HP:0006851	Symmetric spinal nerve root neurofibromas
4763	NF1	HP:0009088	Speech articulation difficulties
4763	NF1	HP:0005584	Renal cell carcinoma
4763	NF1	HP:0001962	Palpitations
4763	NF1	HP:0000618	Blindness
4763	NF1	HP:0000610	Abnormal choroid morphology
4763	NF1	HP:0001920	Renal artery stenosis
4763	NF1	HP:0000601	Hypotelorism
4763	NF1	HP:0001909	Leukemia
4763	NF1	HP:0000682	Abnormal dental enamel morphology
4763	NF1	HP:0009023	Abdominal wall muscle weakness
4763	NF1	HP:0011343	Moderate global developmental delay
4763	NF1	HP:0000653	Sparse eyelashes
4763	NF1	HP:0001999	Abnormal facial shape
4763	NF1	HP:0004322	Short stature
4763	NF1	HP:0003002	Breast carcinoma
4763	NF1	HP:0003001	Glomus jugular tumor
4763	NF1	HP:0030692	Brain neoplasm
4763	NF1	HP:0003072	Hypercalcemia
4763	NF1	HP:0003010	Prolonged bleeding time
4763	NF1	HP:0003006	Neuroblastoma
4763	NF1	HP:0100008	Schwannoma
4763	NF1	HP:0011407	Proportionate tall stature
4763	NF1	HP:0012733	Macule
4763	NF1	HP:0000767	Pectus excavatum
4763	NF1	HP:0000768	Pectus carinatum
4763	NF1	HP:0000765	Abnormal thorax morphology
4763	NF1	HP:0000736	Short attention span
4763	NF1	HP:0000735	Impaired social interactions
4763	NF1	HP:0000750	Delayed speech and language development
4763	NF1	HP:0000740	Episodic paroxysmal anxiety
4763	NF1	HP:0000729	Autistic behavior
4763	NF1	HP:0000708	Atypical behavior
4763	NF1	HP:0011463	Childhood onset
4763	NF1	HP:0011462	Young adult onset
4763	NF1	HP:0011442	Abnormal central motor function
4763	NF1	HP:0000790	Hematuria
4763	NF1	HP:0012758	Neurodevelopmental delay
4763	NF1	HP:0004411	Deviated nasal septum
4763	NF1	HP:0000917	Superior pectus carinatum
4763	NF1	HP:0000915	Pectus excavatum of inferior sternum
4763	NF1	HP:0000925	Abnormality of the vertebral column
4763	NF1	HP:0000924	Abnormality of the skeletal system
4763	NF1	HP:0004482	Relative macrocephaly
4763	NF1	HP:0003165	Elevated circulating parathyroid hormone level
4763	NF1	HP:0000826	Precocious puberty
4763	NF1	HP:0000822	Hypertension
4763	NF1	HP:0000823	Delayed puberty
4763	NF1	HP:0004562	Beaking of vertebral bodies T12-L3
4763	NF1	HP:0045075	Sparse eyebrow
4763	NF1	HP:0100252	Diaphyseal dysplasia
4763	NF1	HP:0000997	Axillary freckling
4763	NF1	HP:0000980	Pallor
4763	NF1	HP:0000957	Cafe-au-lait spot
4763	NF1	HP:0000939	Osteoporosis
4763	NF1	HP:0000935	Thickened cortex of long bones
4763	NF1	HP:0000938	Osteopenia
4763	NF1	HP:0000286	Epicanthus
4763	NF1	HP:0000280	Coarse facial features
4763	NF1	HP:0000256	Macrocephaly
4763	NF1	HP:0000276	Long face
4763	NF1	HP:0000271	Abnormality of the face
4763	NF1	HP:0000272	Malar flattening
4763	NF1	HP:0006479	Abnormal dental pulp morphology
4763	NF1	HP:0002808	Kyphosis
4763	NF1	HP:0000238	Hydrocephalus
4763	NF1	HP:0002897	Parathyroid adenoma
4763	NF1	HP:0000252	Microcephaly
4763	NF1	HP:0012222	Arachnoid hemangiomatosis
4763	NF1	HP:0000246	Sinusitis
4763	NF1	HP:0012209	Juvenile myelomonocytic leukemia
4763	NF1	HP:0012210	Abnormal renal morphology
4763	NF1	HP:0001548	Overgrowth
4763	NF1	HP:0000218	High palate
4763	NF1	HP:0000233	Thin vermilion border
4763	NF1	HP:0002858	Meningioma
4763	NF1	HP:0002859	Rhabdomyosarcoma
4763	NF1	HP:0002857	Genu valgum
4763	NF1	HP:0002863	Myelodysplasia
4763	NF1	HP:0002864	Paraganglioma of head and neck
4763	NF1	HP:0030052	Inguinal freckling
4763	NF1	HP:0001511	Intrauterine growth retardation
4763	NF1	HP:0012378	Fatigue
4763	NF1	HP:0011039	Abnormal helix morphology
4763	NF1	HP:0007850	Retinal vascular proliferation
4763	NF1	HP:0001605	Vocal cord paralysis
4763	NF1	HP:0001618	Dysphonia
4763	NF1	HP:0000358	Posteriorly rotated ears
4763	NF1	HP:0000369	Low-set ears
4763	NF1	HP:0000368	Low-set, posteriorly rotated ears
4763	NF1	HP:0000341	Narrow forehead
4763	NF1	HP:0000343	Long philtrum
4763	NF1	HP:0000337	Broad forehead
4763	NF1	HP:0001684	Secundum atrial septal defect
4763	NF1	HP:0001680	Coarctation of aorta
4763	NF1	HP:0000347	Micrognathia
4763	NF1	HP:0002979	Bowing of the legs
4763	NF1	HP:0000316	Hypertelorism
4763	NF1	HP:0001642	Pulmonic stenosis
4763	NF1	HP:0002992	Abnormality of tibia morphology
4763	NF1	HP:0001653	Mitral regurgitation
4763	NF1	HP:0000324	Facial asymmetry
4763	NF1	HP:0001655	Patent foramen ovale
4763	NF1	HP:0001629	Ventricular septal defect
4763	NF1	HP:0001627	Abnormal heart morphology
4763	NF1	HP:0001639	Hypertrophic cardiomyopathy
4763	NF1	HP:0001635	Congestive heart failure
4763	NF1	HP:0002967	Cubitus valgus
4763	NF1	HP:0001631	Atrial septal defect
4763	NF1	HP:0001634	Mitral valve prolapse
4763	NF1	HP:0006610	Wide intermamillary distance
4763	NF1	HP:0012492	Cerebral artery stenosis
4763	NF1	HP:0000405	Conductive hearing impairment
4763	NF1	HP:0005272	Prominent nasolabial fold
4763	NF1	HP:0005280	Depressed nasal bridge
4763	NF1	HP:0000486	Strabismus
4763	NF1	HP:0012471	Thick vermilion border
4763	NF1	HP:0000494	Downslanted palpebral fissures
4763	NF1	HP:0000490	Deeply set eye
4763	NF1	HP:0000475	Broad neck
4763	NF1	HP:0000470	Short neck
4763	NF1	HP:0000465	Webbed neck
4763	NF1	HP:0000411	Protruding ear
4763	NF1	HP:0001761	Pes cavus
4763	NF1	HP:0006748	Adrenal pheochromocytoma
4763	NF1	HP:0006737	Extraadrenal pheochromocytoma
4763	NF1	HP:0030426	Ossifying fibroma
4763	NF1	HP:3000062	Abnormal internal carotid artery morphology
4763	NF1	HP:0000529	Progressive visual loss
4763	NF1	HP:0000526	Aniridia
4763	NF1	HP:0000520	Proptosis
4763	NF1	HP:0001824	Weight loss
4763	NF1	HP:0000508	Ptosis
4763	NF1	HP:0001833	Long foot
4763	NF1	HP:0000501	Glaucoma
4763	NF1	HP:0012531	Pain
4771	NF2	HP:0100963	Hyperesthesia
4771	NF2	HP:0001271	Polyneuropathy
4771	NF2	HP:0001269	Hemiparesis
4771	NF2	HP:0001279	Syncope
4771	NF2	HP:0001250	Seizure
4771	NF2	HP:0001251	Ataxia
4771	NF2	HP:0001260	Dysarthria
4771	NF2	HP:0001262	Excessive daytime somnolence
4771	NF2	HP:0010997	Chromosomal breakage induced by ionizing radiation
4771	NF2	HP:0007359	Focal-onset seizure
4771	NF2	HP:0007340	Lower limb muscle weakness
4771	NF2	HP:0002516	Increased intracranial pressure
4771	NF2	HP:0002512	Brain stem compression
4771	NF2	HP:0003829	Typified by incomplete penetrance
4771	NF2	HP:0000044	Hypogonadotropic hypogonadism
4771	NF2	HP:0000020	Urinary incontinence
4771	NF2	HP:0031189	Wrist drop
4771	NF2	HP:0001342	Cerebral hemorrhage
4771	NF2	HP:0000006	Autosomal dominant inheritance
4771	NF2	HP:0001317	Abnormal cerebellum morphology
4771	NF2	HP:0000141	Amenorrhea
4771	NF2	HP:0007663	Reduced visual acuity
4771	NF2	HP:0500089	Optic nerve sheath meningioma
4771	NF2	HP:0001428	Somatic mutation
4771	NF2	HP:0002017	Nausea and vomiting
4771	NF2	HP:0002015	Dysphagia
4771	NF2	HP:0100543	Cognitive impairment
4771	NF2	HP:0011752	Neoplasm of the posterior pituitary
4771	NF2	HP:0011750	Neoplasm of the anterior pituitary
4771	NF2	HP:0011730	Abnormal central sensory function
4771	NF2	HP:0008163	Decreased circulating cortisol level
4771	NF2	HP:0003474	Somatic sensory dysfunction
4771	NF2	HP:0003484	Upper limb muscle weakness
4771	NF2	HP:0003418	Back pain
4771	NF2	HP:0002196	Myelopathy
4771	NF2	HP:0002167	Abnormality of speech or vocalization
4771	NF2	HP:0002172	Postural instability
4771	NF2	HP:0009588	Vestibular schwannoma
4771	NF2	HP:0009589	Bilateral vestibular schwannoma
4771	NF2	HP:0008240	Secondary growth hormone deficiency
4771	NF2	HP:0008245	Pituitary hypothyroidism
4771	NF2	HP:0008237	Hypothalamic hypothyroidism
4771	NF2	HP:0010534	Transient global amnesia
4771	NF2	HP:0008214	Decreased serum estradiol
4771	NF2	HP:0008202	Reduced circulating prolactin concentration
4771	NF2	HP:0009590	Unilateral vestibular schwannoma
4771	NF2	HP:0009593	Peripheral schwannoma
4771	NF2	HP:0009592	Astrocytoma
4771	NF2	HP:0009595	Occasional neurofibromas
4771	NF2	HP:0009594	Retinal hamartoma
4771	NF2	HP:0003581	Adult onset
4771	NF2	HP:0009733	Glioma
4771	NF2	HP:0009737	Lisch nodules
4771	NF2	HP:0010628	Facial palsy
4771	NF2	HP:0002381	Aphasia
4771	NF2	HP:0001067	Neurofibromas
4771	NF2	HP:0002355	Difficulty walking
4771	NF2	HP:0002354	Memory impairment
4771	NF2	HP:0002321	Vertigo
4771	NF2	HP:0002317	Unsteady gait
4771	NF2	HP:0002315	Headache
4771	NF2	HP:0100648	Neoplasm of the tongue
4771	NF2	HP:0100661	Trigeminal neuralgia
4771	NF2	HP:0010828	Hemifacial spasm
4771	NF2	HP:0009830	Peripheral neuropathy
4771	NF2	HP:0009831	Mononeuropathy
4771	NF2	HP:0001085	Papilledema
4771	NF2	HP:0030521	Bitemporal hemianopia
4771	NF2	HP:0006824	Cranial nerve paralysis
4771	NF2	HP:0030532	Visual acuity test abnormality
4771	NF2	HP:0000651	Diplopia
4771	NF2	HP:0000646	Amblyopia
4771	NF2	HP:0000618	Blindness
4771	NF2	HP:0000602	Ophthalmoplegia
4771	NF2	HP:0012691	Focal T2 hypointense thalamic lesion
4771	NF2	HP:0009027	Foot dorsiflexor weakness
4771	NF2	HP:0012658	Abnormal brain FDG positron emission tomography
4771	NF2	HP:0004302	Functional motor deficit
4771	NF2	HP:0000802	Impotence
4771	NF2	HP:0100010	Spinal meningioma
4771	NF2	HP:0100014	Epiretinal membrane
4771	NF2	HP:0100009	Intracranial meningioma
4771	NF2	HP:0100019	Cortical cataract
4771	NF2	HP:0000763	Sensory neuropathy
4771	NF2	HP:0000712	Emotional lability
4771	NF2	HP:0030591	Abnormal kinetic perimetry test
4771	NF2	HP:0011462	Young adult onset
4771	NF2	HP:0011442	Abnormal central motor function
4771	NF2	HP:0030766	Ear pain
4771	NF2	HP:0004408	Abnormality of the sense of smell
4771	NF2	HP:0000870	Increased circulating prolactin concentration
4771	NF2	HP:0030878	Abnormality on pulmonary function testing
4771	NF2	HP:0045026	Abnormal mediastinum morphology
4771	NF2	HP:0010302	Spinal cord tumor
4771	NF2	HP:0000957	Cafe-au-lait spot
4771	NF2	HP:0000953	Hyperpigmentation of the skin
4771	NF2	HP:0040171	Decreased serum testosterone concentration
4771	NF2	HP:0008069	Neoplasm of the skin
4771	NF2	HP:0007715	Weak extraocular muscles
4771	NF2	HP:0012285	Abnormal hypothalamus physiology
4771	NF2	HP:0012246	Oculomotor nerve palsy
4771	NF2	HP:0007787	Posterior subcapsular cataract
4771	NF2	HP:0000238	Hydrocephalus
4771	NF2	HP:0002888	Ependymoma
4771	NF2	HP:0002858	Meningioma
4771	NF2	HP:0001513	Obesity
4771	NF2	HP:0006520	Progressive pulmonary function impairment
4771	NF2	HP:0002920	Decreased circulating ACTH level
4771	NF2	HP:0000365	Hearing impairment
4771	NF2	HP:0000360	Tinnitus
4771	NF2	HP:0007935	Juvenile posterior subcapsular lenticular opacities
4771	NF2	HP:0007924	Slow decrease in visual acuity
4771	NF2	HP:0007968	Remnants of the hyaloid vascular system
4771	NF2	HP:0000407	Sensorineural hearing impairment
4771	NF2	HP:0000478	Abnormality of the eye
4771	NF2	HP:0011133	Increased sensitivity to ionizing radiation
4771	NF2	HP:0030430	Neuroma
4771	NF2	HP:0012505	Enlarged pituitary gland
4771	NF2	HP:0000520	Proptosis
4771	NF2	HP:0030344	Decreased circulating luteinizing hormone level
4771	NF2	HP:0030341	Decreased circulating follicle stimulating hormone concentration
4771	NF2	HP:0000587	Abnormal optic nerve morphology
4771	NF2	HP:0000572	Visual loss
4774	NFIA	HP:0010862	Delayed fine motor development
4774	NFIA	HP:0003745	Sporadic
4774	NFIA	HP:0001274	Agenesis of corpus callosum
4774	NFIA	HP:0001250	Seizure
4774	NFIA	HP:0001252	Hypotonia
4774	NFIA	HP:0001249	Intellectual disability
4774	NFIA	HP:0001263	Global developmental delay
4774	NFIA	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
4774	NFIA	HP:0000089	Renal hypoplasia
4774	NFIA	HP:0000076	Vesicoureteral reflux
4774	NFIA	HP:0000079	Abnormality of the urinary system
4774	NFIA	HP:0000023	Inguinal hernia
4774	NFIA	HP:0001363	Craniosynostosis
4774	NFIA	HP:0000006	Autosomal dominant inheritance
4774	NFIA	HP:0000160	Narrow mouth
4774	NFIA	HP:0000126	Hydronephrosis
4774	NFIA	HP:0002007	Frontal bossing
4774	NFIA	HP:0100543	Cognitive impairment
4774	NFIA	HP:0003396	Syringomyelia
4774	NFIA	HP:0002079	Hypoplasia of the corpus callosum
4774	NFIA	HP:0002144	Tethered cord
4774	NFIA	HP:0002119	Ventriculomegaly
4774	NFIA	HP:0002194	Delayed gross motor development
4774	NFIA	HP:0011834	Moyamoya phenomenon
4774	NFIA	HP:0003593	Infantile onset
4774	NFIA	HP:0007018	Attention deficit hyperactivity disorder
4774	NFIA	HP:0007099	Chiari type I malformation
4774	NFIA	HP:0011330	Metopic synostosis
4774	NFIA	HP:0000722	Compulsive behaviors
4774	NFIA	HP:0030746	Intraventricular hemorrhage
4774	NFIA	HP:0003196	Short nose
4774	NFIA	HP:0000965	Cutis marmorata
4774	NFIA	HP:0000283	Broad face
4774	NFIA	HP:0000256	Macrocephaly
4774	NFIA	HP:0000219	Thin upper lip vermilion
4774	NFIA	HP:0001508	Failure to thrive
4774	NFIA	HP:0000396	Overfolded helix
4774	NFIA	HP:0000369	Low-set ears
4774	NFIA	HP:0000337	Broad forehead
4774	NFIA	HP:0000331	Short chin
4774	NFIA	HP:0007906	Ocular hypertension
4774	NFIA	HP:0000463	Anteverted nares
4774	NFIA	HP:0000582	Upslanted palpebral fissure
4780	NFE2L2	HP:0500152	Hypocystinemia
4780	NFE2L2	HP:0020222	Hypohomocysteinemia
4780	NFE2L2	HP:0001256	Intellectual disability, mild
4780	NFE2L2	HP:0001324	Muscle weakness
4780	NFE2L2	HP:0001337	Tremor
4780	NFE2L2	HP:0000006	Autosomal dominant inheritance
4780	NFE2L2	HP:0002783	Recurrent lower respiratory tract infections
4780	NFE2L2	HP:0012101	Decreased serum creatinine
4780	NFE2L2	HP:0002750	Delayed skeletal maturation
4780	NFE2L2	HP:0002720	Decreased circulating IgA level
4780	NFE2L2	HP:0002721	Immunodeficiency
4780	NFE2L2	HP:0003388	Easy fatigability
4780	NFE2L2	HP:0003593	Infantile onset
4780	NFE2L2	HP:0011968	Feeding difficulties
4780	NFE2L2	HP:0002352	Leukoencephalopathy
4780	NFE2L2	HP:0002315	Headache
4780	NFE2L2	HP:0011342	Mild global developmental delay
4780	NFE2L2	HP:0004322	Short stature
4780	NFE2L2	HP:0004313	Decreased circulating antibody level
4780	NFE2L2	HP:0000750	Delayed speech and language development
4780	NFE2L2	HP:0001581	Recurrent skin infections
4780	NFE2L2	HP:0001508	Failure to thrive
4780	NFE2L2	HP:0001511	Intrauterine growth retardation
4780	NFE2L2	HP:0001510	Growth delay
4780	NFE2L2	HP:0001609	Hoarse voice
4780	NFE2L2	HP:0001647	Bicuspid aortic valve
4780	NFE2L2	HP:0001631	Atrial septal defect
4781	NFIB	HP:0001274	Agenesis of corpus callosum
4781	NFIB	HP:0001270	Motor delay
4781	NFIB	HP:0001250	Seizure
4781	NFIB	HP:0001252	Hypotonia
4781	NFIB	HP:0001249	Intellectual disability
4781	NFIB	HP:0033725	Thin corpus callosum
4781	NFIB	HP:0000006	Autosomal dominant inheritance
4781	NFIB	HP:0002119	Ventriculomegaly
4781	NFIB	HP:0100710	Impulsivity
4781	NFIB	HP:0007018	Attention deficit hyperactivity disorder
4781	NFIB	HP:0034054	Probst bundles
4781	NFIB	HP:0012741	Unilateral cryptorchidism
4781	NFIB	HP:0000739	Anxiety
4781	NFIB	HP:0000750	Delayed speech and language development
4781	NFIB	HP:0000718	Aggressive behavior
4781	NFIB	HP:0000717	Autism
4781	NFIB	HP:0045075	Sparse eyebrow
4781	NFIB	HP:0000256	Macrocephaly
4781	NFIB	HP:0000276	Long face
4781	NFIB	HP:0000343	Long philtrum
4781	NFIB	HP:0000348	High forehead
4781	NFIB	HP:0000494	Downslanted palpebral fissures
4781	NFIB	HP:0000463	Anteverted nares
4781	NFIB	HP:0000446	Narrow nasal bridge
4781	NFIB	HP:0000581	Blepharophimosis
4784	NFIX	HP:0003778	Short mandibular rami
4784	NFIX	HP:0010864	Intellectual disability, severe
4784	NFIX	HP:0009882	Short distal phalanx of finger
4784	NFIX	HP:0008551	Microtia
4784	NFIX	HP:0007227	Macrogyria
4784	NFIX	HP:0003745	Sporadic
4784	NFIX	HP:0100807	Long fingers
4784	NFIX	HP:0001276	Hypertonia
4784	NFIX	HP:0001274	Agenesis of corpus callosum
4784	NFIX	HP:0001270	Motor delay
4784	NFIX	HP:0001256	Intellectual disability, mild
4784	NFIX	HP:0001250	Seizure
4784	NFIX	HP:0001252	Hypotonia
4784	NFIX	HP:0001249	Intellectual disability
4784	NFIX	HP:0001263	Global developmental delay
4784	NFIX	HP:0002572	Episodic vomiting
4784	NFIX	HP:0001238	Slender finger
4784	NFIX	HP:0006048	Distal widening of metacarpals
4784	NFIX	HP:0008689	Bilateral cryptorchidism
4784	NFIX	HP:0001212	Prominent fingertip pads
4784	NFIX	HP:0002553	Highly arched eyebrow
4784	NFIX	HP:0003819	Death in childhood
4784	NFIX	HP:0000098	Tall stature
4784	NFIX	HP:0001385	Hip dysplasia
4784	NFIX	HP:0001348	Brisk reflexes
4784	NFIX	HP:0001363	Craniosynostosis
4784	NFIX	HP:0001357	Plagiocephaly
4784	NFIX	HP:0000028	Cryptorchidism
4784	NFIX	HP:0008872	Feeding difficulties in infancy
4784	NFIX	HP:0001331	Absent septum pellucidum
4784	NFIX	HP:0002659	Increased susceptibility to fractures
4784	NFIX	HP:0001344	Absent speech
4784	NFIX	HP:0002673	Coxa valga
4784	NFIX	HP:0000006	Autosomal dominant inheritance
4784	NFIX	HP:0001302	Pachygyria
4784	NFIX	HP:0002650	Scoliosis
4784	NFIX	HP:0001321	Cerebellar hypoplasia
4784	NFIX	HP:0001319	Neonatal hypotonia
4784	NFIX	HP:0002645	Wormian bones
4784	NFIX	HP:0000194	Open mouth
4784	NFIX	HP:0000160	Narrow mouth
4784	NFIX	HP:0000162	Glossoptosis
4784	NFIX	HP:0000175	Cleft palate
4784	NFIX	HP:0008936	Axial hypotonia
4784	NFIX	HP:0006288	Advanced eruption of teeth
4784	NFIX	HP:0002788	Recurrent upper respiratory tract infections
4784	NFIX	HP:0002757	Recurrent fractures
4784	NFIX	HP:0002751	Kyphoscoliosis
4784	NFIX	HP:0002021	Pyloric stenosis
4784	NFIX	HP:0002020	Gastroesophageal reflux
4784	NFIX	HP:0002019	Constipation
4784	NFIX	HP:0002007	Frontal bossing
4784	NFIX	HP:0003311	Hypoplasia of the odontoid process
4784	NFIX	HP:0011800	Midface retrusion
4784	NFIX	HP:0002092	Pulmonary arterial hypertension
4784	NFIX	HP:0002079	Hypoplasia of the corpus callosum
4784	NFIX	HP:0002076	Migraine
4784	NFIX	HP:0002059	Cerebral atrophy
4784	NFIX	HP:0002119	Ventriculomegaly
4784	NFIX	HP:0002131	Episodic ataxia
4784	NFIX	HP:0002100	Recurrent aspiration pneumonia
4784	NFIX	HP:0002104	Apnea
4784	NFIX	HP:0003414	Atlantoaxial dislocation
4784	NFIX	HP:0002162	Low posterior hairline
4784	NFIX	HP:0100716	Self-injurious behavior
4784	NFIX	HP:0002230	Generalized hirsutism
4784	NFIX	HP:0002299	Brittle hair
4784	NFIX	HP:0011968	Feeding difficulties
4784	NFIX	HP:0011951	Aspiration pneumonia
4784	NFIX	HP:0430029	Hyperplasia of the premaxilla
4784	NFIX	HP:0002365	Hypoplasia of the brainstem
4784	NFIX	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
4784	NFIX	HP:0002342	Intellectual disability, moderate
4784	NFIX	HP:0002341	Cervical cord compression
4784	NFIX	HP:0009845	Bullet-shaped middle phalanges of the hand
4784	NFIX	HP:0008513	Bilateral conductive hearing impairment
4784	NFIX	HP:0010808	Protruding tongue
4784	NFIX	HP:0009797	Cholesteatoma
4784	NFIX	HP:0010759	Prominence of the premaxilla
4784	NFIX	HP:0003623	Neonatal onset
4784	NFIX	HP:0002307	Drooling
4784	NFIX	HP:0004209	Clinodactyly of the 5th finger
4784	NFIX	HP:0000639	Nystagmus
4784	NFIX	HP:0000646	Amblyopia
4784	NFIX	HP:0000648	Optic atrophy
4784	NFIX	HP:0000609	Optic nerve hypoplasia
4784	NFIX	HP:0000691	Microdontia
4784	NFIX	HP:0001999	Abnormal facial shape
4784	NFIX	HP:0000664	Synophrys
4784	NFIX	HP:0000666	Horizontal nystagmus
4784	NFIX	HP:0004325	Decreased body weight
4784	NFIX	HP:0004322	Short stature
4784	NFIX	HP:0006956	Lateral ventricle dilatation
4784	NFIX	HP:0005616	Accelerated skeletal maturation
4784	NFIX	HP:0030680	Abnormality of cardiovascular system morphology
4784	NFIX	HP:0005692	Joint hyperflexibility
4784	NFIX	HP:0031936	Delayed ability to walk
4784	NFIX	HP:0004349	Reduced bone mineral density
4784	NFIX	HP:0012741	Unilateral cryptorchidism
4784	NFIX	HP:0000752	Hyperactivity
4784	NFIX	HP:0000767	Pectus excavatum
4784	NFIX	HP:0000737	Irritability
4784	NFIX	HP:0000739	Anxiety
4784	NFIX	HP:0000750	Delayed speech and language development
4784	NFIX	HP:0000729	Autistic behavior
4784	NFIX	HP:0011463	Childhood onset
4784	NFIX	HP:0003100	Slender long bone
4784	NFIX	HP:0030799	Scaphocephaly
4784	NFIX	HP:0003196	Short nose
4784	NFIX	HP:0003186	Inverted nipples
4784	NFIX	HP:0003184	Decreased hip abduction
4784	NFIX	HP:0000879	Short sternum
4784	NFIX	HP:0000826	Precocious puberty
4784	NFIX	HP:0000822	Hypertension
4784	NFIX	HP:0040079	Irregular dentition
4784	NFIX	HP:0000998	Hypertrichosis
4784	NFIX	HP:0000995	Melanocytic nevus
4784	NFIX	HP:0010307	Stridor
4784	NFIX	HP:0000978	Bruising susceptibility
4784	NFIX	HP:0000965	Cutis marmorata
4784	NFIX	HP:0000963	Thin skin
4784	NFIX	HP:0000939	Osteoporosis
4784	NFIX	HP:0008070	Sparse hair
4784	NFIX	HP:0000286	Epicanthus
4784	NFIX	HP:0000278	Retrognathia
4784	NFIX	HP:0000256	Macrocephaly
4784	NFIX	HP:0000275	Narrow face
4784	NFIX	HP:0000276	Long face
4784	NFIX	HP:0000268	Dolichocephaly
4784	NFIX	HP:0000269	Prominent occiput
4784	NFIX	HP:0007766	Optic disc hypoplasia
4784	NFIX	HP:0002812	Coxa vara
4784	NFIX	HP:0002827	Hip dislocation
4784	NFIX	HP:0030084	Clinodactyly
4784	NFIX	HP:0002808	Kyphosis
4784	NFIX	HP:0000238	Hydrocephalus
4784	NFIX	HP:0000252	Microcephaly
4784	NFIX	HP:0001548	Overgrowth
4784	NFIX	HP:0000218	High palate
4784	NFIX	HP:0000212	Gingival overgrowth
4784	NFIX	HP:0001545	Anteriorly placed anus
4784	NFIX	HP:0000232	Everted lower lip vermilion
4784	NFIX	HP:0002870	Obstructive sleep apnea
4784	NFIX	HP:0001537	Umbilical hernia
4784	NFIX	HP:0001539	Omphalocele
4784	NFIX	HP:0001508	Failure to thrive
4784	NFIX	HP:0030043	Hip subluxation
4784	NFIX	HP:0001511	Intrauterine growth retardation
4784	NFIX	HP:0001510	Growth delay
4784	NFIX	HP:0000396	Overfolded helix
4784	NFIX	HP:0006536	Airway obstruction
4784	NFIX	HP:0001601	Laryngomalacia
4784	NFIX	HP:0002942	Thoracic kyphosis
4784	NFIX	HP:0002943	Thoracic scoliosis
4784	NFIX	HP:0005176	Dysplastic aortic valve
4784	NFIX	HP:0006487	Bowing of the long bones
4784	NFIX	HP:0000365	Hearing impairment
4784	NFIX	HP:0000358	Posteriorly rotated ears
4784	NFIX	HP:0011003	High myopia
4784	NFIX	HP:0000369	Low-set ears
4784	NFIX	HP:0000340	Sloping forehead
4784	NFIX	HP:0000337	Broad forehead
4784	NFIX	HP:0000348	High forehead
4784	NFIX	HP:0000347	Micrognathia
4784	NFIX	HP:0000316	Hypertelorism
4784	NFIX	HP:0001643	Patent ductus arteriosus
4784	NFIX	HP:0000322	Short philtrum
4784	NFIX	HP:0000325	Triangular face
4784	NFIX	HP:0000324	Facial asymmetry
4784	NFIX	HP:0001629	Ventricular septal defect
4784	NFIX	HP:0000308	Microretrognathia
4784	NFIX	HP:0000307	Pointed chin
4784	NFIX	HP:0000300	Oval face
4784	NFIX	HP:0001631	Atrial septal defect
4784	NFIX	HP:0000303	Mandibular prognathia
4784	NFIX	HP:0006682	Premature ventricular contraction
4784	NFIX	HP:0006642	Large sternal ossification centers
4784	NFIX	HP:0000405	Conductive hearing impairment
4784	NFIX	HP:0005280	Depressed nasal bridge
4784	NFIX	HP:0000483	Astigmatism
4784	NFIX	HP:0000486	Strabismus
4784	NFIX	HP:0012471	Thick vermilion border
4784	NFIX	HP:0012472	Eclabion
4784	NFIX	HP:0000494	Downslanted palpebral fissures
4784	NFIX	HP:0000490	Deeply set eye
4784	NFIX	HP:0000463	Anteverted nares
4784	NFIX	HP:0000453	Choanal atresia
4784	NFIX	HP:0000452	Choanal stenosis
4784	NFIX	HP:0000448	Prominent nose
4784	NFIX	HP:0000430	Underdeveloped nasal alae
4784	NFIX	HP:0001761	Pes cavus
4784	NFIX	HP:0000520	Proptosis
4784	NFIX	HP:0001822	Hallux valgus
4784	NFIX	HP:0000506	Telecanthus
4784	NFIX	HP:0000501	Glaucoma
4784	NFIX	HP:0000582	Upslanted palpebral fissure
4784	NFIX	HP:0000592	Blue sclerae
4784	NFIX	HP:0000586	Shallow orbits
4784	NFIX	HP:0011220	Prominent forehead
4784	NFIX	HP:0000574	Thick eyebrow
4784	NFIX	HP:0000540	Hypermetropia
4784	NFIX	HP:0000543	Optic disc pallor
4784	NFIX	HP:0000545	Myopia
4790	NFKB1	HP:0002582	Atrophic gastritis
4790	NFKB1	HP:0001392	Abnormality of the liver
4790	NFKB1	HP:0002665	Lymphoma
4790	NFKB1	HP:0000006	Autosomal dominant inheritance
4790	NFKB1	HP:0002633	Vasculitis
4790	NFKB1	HP:0025452	Pyoderma gangrenosum
4790	NFKB1	HP:0002719	Recurrent infections
4790	NFKB1	HP:0002716	Lymphadenopathy
4790	NFKB1	HP:0002721	Immunodeficiency
4790	NFKB1	HP:0002023	Anal atresia
4790	NFKB1	HP:0002097	Emphysema
4790	NFKB1	HP:0002090	Pneumonia
4790	NFKB1	HP:0002091	Restrictive ventilatory defect
4790	NFKB1	HP:0002110	Bronchiectasis
4790	NFKB1	HP:0003581	Adult onset
4790	NFKB1	HP:0002205	Recurrent respiratory infections
4790	NFKB1	HP:0100723	Gastrointestinal stroma tumor
4790	NFKB1	HP:0003621	Juvenile onset
4790	NFKB1	HP:0001973	Autoimmune thrombocytopenia
4790	NFKB1	HP:0004313	Decreased circulating antibody level
4790	NFKB1	HP:0011463	Childhood onset
4790	NFKB1	HP:0000979	Purpura
4790	NFKB1	HP:0001596	Alopecia
4790	NFKB1	HP:0002829	Arthralgia
4790	NFKB1	HP:0001581	Recurrent skin infections
4790	NFKB1	HP:0000248	Brachycephaly
4790	NFKB1	HP:0001531	Failure to thrive in infancy
4790	NFKB1	HP:0002837	Recurrent bronchitis
4790	NFKB1	HP:0006510	Chronic pulmonary obstruction
4790	NFKB1	HP:0000389	Chronic otitis media
4790	NFKB1	HP:0000388	Otitis media
4790	NFKB1	HP:0006532	Recurrent pneumonia
4790	NFKB1	HP:0002910	Elevated hepatic transaminase
4790	NFKB1	HP:0005387	Combined immunodeficiency
4790	NFKB1	HP:0011108	Recurrent sinusitis
4790	NFKB1	HP:0001744	Splenomegaly
4790	NFKB1	HP:0005425	Recurrent sinopulmonary infections
4790	NFKB1	HP:0006783	Posterior pharyngeal cleft
4790	NFKB1	HP:0001890	Autoimmune hemolytic anemia
4790	NFKB1	HP:0001888	Lymphopenia
4790	NFKB1	HP:0001878	Hemolytic anemia
4790	NFKB1	HP:0001873	Thrombocytopenia
4791	NFKB2	HP:0003765	Psoriasiform dermatitis
4791	NFKB2	HP:0100803	Abnormality of the periungual region
4791	NFKB2	HP:0100806	Sepsis
4791	NFKB2	HP:0001263	Global developmental delay
4791	NFKB2	HP:0007418	Alopecia totalis
4791	NFKB2	HP:0031074	Abnormal response to ACTH stimulation test
4791	NFKB2	HP:0025379	Anti-thyroid peroxidase antibody positivity
4791	NFKB2	HP:0001392	Abnormality of the liver
4791	NFKB2	HP:0001325	Hypoglycemic coma
4791	NFKB2	HP:0002665	Lymphoma
4791	NFKB2	HP:0000006	Autosomal dominant inheritance
4791	NFKB2	HP:0002633	Vasculitis
4791	NFKB2	HP:0002615	Hypotension
4791	NFKB2	HP:0410028	Recurrent oral herpes
4791	NFKB2	HP:0002788	Recurrent upper respiratory tract infections
4791	NFKB2	HP:0002716	Lymphadenopathy
4791	NFKB2	HP:0002720	Decreased circulating IgA level
4791	NFKB2	HP:0002721	Immunodeficiency
4791	NFKB2	HP:0002023	Anal atresia
4791	NFKB2	HP:0002021	Pyloric stenosis
4791	NFKB2	HP:0002099	Asthma
4791	NFKB2	HP:0002097	Emphysema
4791	NFKB2	HP:0002090	Pneumonia
4791	NFKB2	HP:0002091	Restrictive ventilatory defect
4791	NFKB2	HP:0011734	Central adrenal insufficiency
4791	NFKB2	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
4791	NFKB2	HP:0033166	Recurrent viral upper respiratory tract infections
4791	NFKB2	HP:0008163	Decreased circulating cortisol level
4791	NFKB2	HP:0002153	Hyperkalemia
4791	NFKB2	HP:0002121	Generalized non-motor (absence) seizure
4791	NFKB2	HP:0002110	Bronchiectasis
4791	NFKB2	HP:0002205	Recurrent respiratory infections
4791	NFKB2	HP:0100776	Recurrent pharyngitis
4791	NFKB2	HP:0008404	Nail dystrophy
4791	NFKB2	HP:0100723	Gastrointestinal stroma tumor
4791	NFKB2	HP:0032069	Anti-thyroglobulin antibody positivity
4791	NFKB2	HP:0007099	Chiari type I malformation
4791	NFKB2	HP:0001045	Vitiligo
4791	NFKB2	HP:0100646	Thyroiditis
4791	NFKB2	HP:0000651	Diplopia
4791	NFKB2	HP:0001973	Autoimmune thrombocytopenia
4791	NFKB2	HP:0001943	Hypoglycemia
4791	NFKB2	HP:0001988	Recurrent hypoglycemia
4791	NFKB2	HP:0004315	Decreased circulating IgG level
4791	NFKB2	HP:0004332	Abnormal lymphocyte morphology
4791	NFKB2	HP:0004313	Decreased circulating antibody level
4791	NFKB2	HP:0011463	Childhood onset
4791	NFKB2	HP:0004429	Recurrent viral infections
4791	NFKB2	HP:0000824	Decreased response to growth hormone stimulation test
4791	NFKB2	HP:0030804	Trachyonychia
4791	NFKB2	HP:0000979	Purpura
4791	NFKB2	HP:0001596	Alopecia
4791	NFKB2	HP:0030057	Autoimmune antibody positivity
4791	NFKB2	HP:0002829	Arthralgia
4791	NFKB2	HP:0000248	Brachycephaly
4791	NFKB2	HP:0012203	Onychomycosis
4791	NFKB2	HP:0001531	Failure to thrive in infancy
4791	NFKB2	HP:0001508	Failure to thrive
4791	NFKB2	HP:0002837	Recurrent bronchitis
4791	NFKB2	HP:0002850	Decreased circulating total IgM
4791	NFKB2	HP:0012378	Fatigue
4791	NFKB2	HP:0000389	Chronic otitis media
4791	NFKB2	HP:0000388	Otitis media
4791	NFKB2	HP:0005215	Frequent Giardia lamblia infestation
4791	NFKB2	HP:0006532	Recurrent pneumonia
4791	NFKB2	HP:0002910	Elevated hepatic transaminase
4791	NFKB2	HP:0002920	Decreased circulating ACTH level
4791	NFKB2	HP:0002902	Hyponatremia
4791	NFKB2	HP:0005387	Combined immunodeficiency
4791	NFKB2	HP:0005365	Severe B lymphocytopenia
4791	NFKB2	HP:0000403	Recurrent otitis media
4791	NFKB2	HP:0011108	Recurrent sinusitis
4791	NFKB2	HP:0001744	Splenomegaly
4791	NFKB2	HP:0006783	Posterior pharyngeal cleft
4791	NFKB2	HP:0012504	Abnormal size of pituitary gland
4791	NFKB2	HP:0030349	Decreased circulating androgen concentration
4791	NFKB2	HP:0030353	Decreased serum insulin-like growth factor 1
4791	NFKB2	HP:0001888	Lymphopenia
4791	NFKB2	HP:0001878	Hemolytic anemia
4792	NFKBIA	HP:0007476	Anhidrotic ectodermal dysplasia
4792	NFKBIA	HP:0000006	Autosomal dominant inheritance
4792	NFKBIA	HP:0002028	Chronic diarrhea
4792	NFKBIA	HP:0002007	Frontal bossing
4792	NFKBIA	HP:0002046	Heat intolerance
4792	NFKBIA	HP:0004798	Recurrent infection of the gastrointestinal tract
4792	NFKBIA	HP:0003593	Infantile onset
4792	NFKBIA	HP:0002240	Hepatomegaly
4792	NFKBIA	HP:0002209	Sparse scalp hair
4792	NFKBIA	HP:0002205	Recurrent respiratory infections
4792	NFKBIA	HP:0000698	Conical tooth
4792	NFKBIA	HP:0000668	Hypodontia
4792	NFKBIA	HP:0000958	Dry skin
4792	NFKBIA	HP:0000970	Anhidrosis
4792	NFKBIA	HP:0000966	Hypohidrosis
4792	NFKBIA	HP:0008070	Sparse hair
4792	NFKBIA	HP:0001508	Failure to thrive
4792	NFKBIA	HP:0011136	Aplasia of the sweat glands
4792	NFKBIA	HP:0011114	Defective production of NFKB1-dependent cytokines
4792	NFKBIA	HP:0011120	Concave nasal ridge
4792	NFKBIA	HP:0001744	Splenomegaly
4795	NFKBIL1	HP:0001370	Rheumatoid arthritis
4795	NFKBIL1	HP:0001386	Joint swelling
4795	NFKBIL1	HP:0001387	Joint stiffness
4795	NFKBIL1	HP:0006150	Swan neck-like deformities of the fingers
4795	NFKBIL1	HP:0002633	Vasculitis
4795	NFKBIL1	HP:0006252	Interphalangeal joint erosions
4795	NFKBIL1	HP:0003565	Elevated erythrocyte sedimentation rate
4795	NFKBIL1	HP:0001945	Fever
4795	NFKBIL1	HP:0005764	Polyarticular arthritis
4795	NFKBIL1	HP:0033034	Anti-citrullinated protein antibody positivity
4795	NFKBIL1	HP:0012276	Digital flexor tenosynovitis
4795	NFKBIL1	HP:0002829	Arthralgia
4795	NFKBIL1	HP:0012378	Fatigue
4795	NFKBIL1	HP:0002923	Rheumatoid factor positive
4795	NFKBIL1	HP:0001824	Weight loss
4795	NFKBIL1	HP:0011227	Elevated circulating C-reactive protein concentration
4796	TONSL	HP:0001169	Broad palm
4796	TONSL	HP:0001156	Brachydactyly
4796	TONSL	HP:0010941	Aplasia of the nasal bone
4796	TONSL	HP:0001249	Intellectual disability
4796	TONSL	HP:0001263	Global developmental delay
4796	TONSL	HP:0003895	Flattened humeral epiphyses
4796	TONSL	HP:0008755	Laryngotracheomalacia
4796	TONSL	HP:0100864	Short femoral neck
4796	TONSL	HP:0001216	Delayed ossification of carpal bones
4796	TONSL	HP:0001377	Limited elbow extension
4796	TONSL	HP:0001388	Joint laxity
4796	TONSL	HP:0000047	Hypospadias
4796	TONSL	HP:0008873	Disproportionate short-limb short stature
4796	TONSL	HP:0002663	Delayed epiphyseal ossification
4796	TONSL	HP:0000007	Autosomal recessive inheritance
4796	TONSL	HP:0002650	Scoliosis
4796	TONSL	HP:0002651	Spondyloepimetaphyseal dysplasia
4796	TONSL	HP:0025492	Microcoria
4796	TONSL	HP:0008905	Rhizomelia
4796	TONSL	HP:0000164	Abnormality of the dentition
4796	TONSL	HP:0006336	Short dental root
4796	TONSL	HP:0002761	Generalized joint laxity
4796	TONSL	HP:0002751	Kyphoscoliosis
4796	TONSL	HP:0002750	Delayed skeletal maturation
4796	TONSL	HP:0002007	Frontal bossing
4796	TONSL	HP:0004646	Hypoplasia of the nasal bone
4796	TONSL	HP:0011800	Midface retrusion
4796	TONSL	HP:0100559	Lower limb asymmetry
4796	TONSL	HP:0003370	Flat capital femoral epiphysis
4796	TONSL	HP:0004603	Hyperconvex vertebral body endplates
4796	TONSL	HP:0010585	Small epiphyses
4796	TONSL	HP:0009826	Limb undergrowth
4796	TONSL	HP:0008486	Lumbar interpedicular narrowing
4796	TONSL	HP:0008450	Narrow vertebral interpedicular distance
4796	TONSL	HP:0010740	Osteopathia striata
4796	TONSL	HP:0002308	Chiari malformation
4796	TONSL	HP:0004944	Dilatation of the cerebral artery
4796	TONSL	HP:0004279	Short palm
4796	TONSL	HP:0006889	Intellectual disability, borderline
4796	TONSL	HP:0006887	Intellectual disability, progressive
4796	TONSL	HP:0000639	Nystagmus
4796	TONSL	HP:0000696	Delayed eruption of permanent teeth
4796	TONSL	HP:0000691	Microdontia
4796	TONSL	HP:0001999	Abnormal facial shape
4796	TONSL	HP:0004315	Decreased circulating IgG level
4796	TONSL	HP:0004313	Decreased circulating antibody level
4796	TONSL	HP:0003015	Flared metaphysis
4796	TONSL	HP:0003016	Metaphyseal widening
4796	TONSL	HP:0003026	Short long bone
4796	TONSL	HP:0003027	Mesomelia
4796	TONSL	HP:0003025	Metaphyseal irregularity
4796	TONSL	HP:0005743	Avascular necrosis of the capital femoral epiphysis
4796	TONSL	HP:0003196	Short nose
4796	TONSL	HP:0000925	Abnormality of the vertebral column
4796	TONSL	HP:0000926	Platyspondyly
4796	TONSL	HP:0003182	Shallow acetabular fossae
4796	TONSL	HP:0004482	Relative macrocephaly
4796	TONSL	HP:0000851	Congenital hypothyroidism
4796	TONSL	HP:0000826	Precocious puberty
4796	TONSL	HP:0000821	Hypothyroidism
4796	TONSL	HP:0010234	Ivory epiphyses of the phalanges of the hand
4796	TONSL	HP:0040221	Hypoplasia of the dental root
4796	TONSL	HP:0004586	Biconcave vertebral bodies
4796	TONSL	HP:0030839	Knee pain
4796	TONSL	HP:0030834	Shoulder pain
4796	TONSL	HP:0030833	Neck pain
4796	TONSL	HP:0000938	Osteopenia
4796	TONSL	HP:0007707	Congenital aphakia
4796	TONSL	HP:0000286	Epicanthus
4796	TONSL	HP:0000276	Long face
4796	TONSL	HP:0000272	Malar flattening
4796	TONSL	HP:0007787	Posterior subcapsular cataract
4796	TONSL	HP:0002812	Coxa vara
4796	TONSL	HP:0002827	Hip dislocation
4796	TONSL	HP:0002857	Genu valgum
4796	TONSL	HP:0031367	Metaphyseal striations
4796	TONSL	HP:0030043	Hip subluxation
4796	TONSL	HP:0001518	Small for gestational age
4796	TONSL	HP:0001511	Intrauterine growth retardation
4796	TONSL	HP:0006532	Recurrent pneumonia
4796	TONSL	HP:0001607	Subglottic stenosis
4796	TONSL	HP:0002938	Lumbar hyperlordosis
4796	TONSL	HP:0002942	Thoracic kyphosis
4796	TONSL	HP:0000316	Hypertelorism
4796	TONSL	HP:0001621	Weak voice
4796	TONSL	HP:0002970	Genu varum
4796	TONSL	HP:0000303	Mandibular prognathia
4796	TONSL	HP:0005280	Depressed nasal bridge
4796	TONSL	HP:0000463	Anteverted nares
4796	TONSL	HP:0001773	Short foot
4796	TONSL	HP:0001769	Broad foot
4796	TONSL	HP:0001763	Pes planus
4796	TONSL	HP:0000445	Wide nose
4796	TONSL	HP:0000414	Bulbous nose
4796	TONSL	HP:0005446	Obtuse angle of mandible
4796	TONSL	HP:0000518	Cataract
4796	TONSL	HP:0011220	Prominent forehead
4796	TONSL	HP:0001875	Neutropenia
4803	NGF	HP:0007328	Impaired pain sensation
4803	NGF	HP:0007249	Decreased number of small peripheral myelinated nerve fibers
4803	NGF	HP:0001256	Intellectual disability, mild
4803	NGF	HP:0006121	Acral ulceration
4803	NGF	HP:0002661	Painless fractures due to injury
4803	NGF	HP:0000007	Autosomal recessive inheritance
4803	NGF	HP:0000164	Abnormality of the dentition
4803	NGF	HP:0000168	Abnormality of the gingiva
4803	NGF	HP:0002754	Osteomyelitis
4803	NGF	HP:0003593	Infantile onset
4803	NGF	HP:0007021	Pain insensitivity
4803	NGF	HP:0001058	Poor wound healing
4803	NGF	HP:0010829	Impaired temperature sensation
4803	NGF	HP:0009830	Peripheral neuropathy
4803	NGF	HP:0001954	Recurrent fever
4803	NGF	HP:0000970	Anhidrosis
4803	NGF	HP:0000272	Malar flattening
4803	NGF	HP:0000490	Deeply set eye
4808	NHLH2	HP:0000007	Autosomal recessive inheritance
4808	NHLH2	HP:0008197	Absence of pubertal development
4808	NHLH2	HP:0003621	Juvenile onset
4808	NHLH2	HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test
4808	NHLH2	HP:0001513	Obesity
4808	NHLH2	HP:0000458	Anosmia
4808	NHLH2	HP:0030344	Decreased circulating luteinizing hormone level
4808	NHLH2	HP:0030341	Decreased circulating follicle stimulating hormone concentration
4810	NHS	HP:0001141	Severely reduced visual acuity
4810	NHS	HP:0001249	Intellectual disability
4810	NHS	HP:0000164	Abnormality of the dentition
4810	NHS	HP:0006346	Screwdriver-shaped incisors
4810	NHS	HP:0006332	Supernumerary maxillary incisor
4810	NHS	HP:0001423	X-linked dominant inheritance
4810	NHS	HP:0001417	X-linked inheritance
4810	NHS	HP:0010695	Sutural cataract
4810	NHS	HP:0002342	Intellectual disability, moderate
4810	NHS	HP:0009803	Short phalanx of finger
4810	NHS	HP:0000639	Nystagmus
4810	NHS	HP:0010049	Short metacarpal
4810	NHS	HP:0000699	Diastema
4810	NHS	HP:0100018	Nuclear cataract
4810	NHS	HP:0000717	Autism
4810	NHS	HP:0000708	Atypical behavior
4810	NHS	HP:0008031	Posterior Y-sutural cataract
4810	NHS	HP:0000275	Narrow face
4810	NHS	HP:0000276	Long face
4810	NHS	HP:0001500	Broad finger
4810	NHS	HP:0011092	Mulberry molar
4810	NHS	HP:0011069	Supernumerary tooth
4810	NHS	HP:0000303	Mandibular prognathia
4810	NHS	HP:0000400	Macrotia
4810	NHS	HP:0000486	Strabismus
4810	NHS	HP:0000482	Microcornea
4810	NHS	HP:0000448	Prominent nose
4810	NHS	HP:0000411	Protruding ear
4810	NHS	HP:0000426	Prominent nasal bridge
4810	NHS	HP:0000518	Cataract
4810	NHS	HP:0000519	Developmental cataract
4810	NHS	HP:0000505	Visual impairment
4810	NHS	HP:0000501	Glaucoma
4810	NHS	HP:0000572	Visual loss
4810	NHS	HP:0000568	Microphthalmia
4810	NHS	HP:0000541	Retinal detachment
4835	NQO2	HP:0000006	Autosomal dominant inheritance
4835	NQO2	HP:0001428	Somatic mutation
4835	NQO2	HP:0003002	Breast carcinoma
4838	NODAL	HP:0002465	Poor speech
4838	NODAL	HP:0002474	Expressive language delay
4838	NODAL	HP:0002451	Limb dystonia
4838	NODAL	HP:0007301	Oromotor apraxia
4838	NODAL	HP:0009932	Single naris
4838	NODAL	HP:0009914	Cyclopia
4838	NODAL	HP:0002418	Abnormal midbrain morphology
4838	NODAL	HP:0001290	Generalized hypotonia
4838	NODAL	HP:0001272	Cerebellar atrophy
4838	NODAL	HP:0001274	Agenesis of corpus callosum
4838	NODAL	HP:0001273	Abnormal corpus callosum morphology
4838	NODAL	HP:0001254	Lethargy
4838	NODAL	HP:0001250	Seizure
4838	NODAL	HP:0001249	Intellectual disability
4838	NODAL	HP:0001257	Spasticity
4838	NODAL	HP:0002566	Intestinal malrotation
4838	NODAL	HP:0008736	Hypoplasia of penis
4838	NODAL	HP:0007375	Abnormal septum pellucidum morphology
4838	NODAL	HP:0002540	Inability to walk
4838	NODAL	HP:0000089	Renal hypoplasia
4838	NODAL	HP:0000062	Ambiguous genitalia
4838	NODAL	HP:0000073	Ureteral duplication
4838	NODAL	HP:0000071	Ureteral stenosis
4838	NODAL	HP:0001371	Flexion contracture
4838	NODAL	HP:0001355	Megalencephaly
4838	NODAL	HP:0001360	Holoprosencephaly
4838	NODAL	HP:0001328	Specific learning disability
4838	NODAL	HP:0001344	Absent speech
4838	NODAL	HP:0000006	Autosomal dominant inheritance
4838	NODAL	HP:0002650	Scoliosis
4838	NODAL	HP:0001321	Cerebellar hypoplasia
4838	NODAL	HP:0000193	Bifid uvula
4838	NODAL	HP:0000161	Median cleft lip
4838	NODAL	HP:0000175	Cleft palate
4838	NODAL	HP:0006315	Solitary median maxillary central incisor
4838	NODAL	HP:0008947	Infantile muscular hypotonia
4838	NODAL	HP:0012110	Hypoplasia of the pons
4838	NODAL	HP:0000119	Abnormality of the genitourinary system
4838	NODAL	HP:0002793	Abnormal pattern of respiration
4838	NODAL	HP:0000104	Renal agenesis
4838	NODAL	HP:0002020	Gastroesophageal reflux
4838	NODAL	HP:0002019	Constipation
4838	NODAL	HP:0003363	Abdominal situs inversus
4838	NODAL	HP:0002033	Poor suck
4838	NODAL	HP:0002015	Dysphagia
4838	NODAL	HP:0002013	Vomiting
4838	NODAL	HP:0040327	Abnormal morphology of the olfactory bulb
4838	NODAL	HP:0005968	Temperature instability
4838	NODAL	HP:0002099	Asthma
4838	NODAL	HP:0002059	Cerebral atrophy
4838	NODAL	HP:0011787	Central hypothyroidism
4838	NODAL	HP:0003468	Abnormal vertebral morphology
4838	NODAL	HP:0003458	EMG: myopathic abnormalities
4838	NODAL	HP:0011861	Bilateral trilobed lung
4838	NODAL	HP:0002270	Abnormality of the autonomic nervous system
4838	NODAL	HP:0003577	Congenital onset
4838	NODAL	HP:0100704	Cerebral visual impairment
4838	NODAL	HP:0100710	Impulsivity
4838	NODAL	HP:0002247	Duodenal atresia
4838	NODAL	HP:0010654	Aplasia of the falx cerebri
4838	NODAL	HP:0007018	Attention deficit hyperactivity disorder
4838	NODAL	HP:0010644	Midnasal stenosis
4838	NODAL	HP:0011968	Feeding difficulties
4838	NODAL	HP:0011951	Aspiration pneumonia
4838	NODAL	HP:0002363	Abnormal brainstem morphology
4838	NODAL	HP:0001028	Hemangioma
4838	NODAL	HP:0010804	Tented upper lip vermilion
4838	NODAL	HP:0009800	Maternal diabetes
4838	NODAL	HP:0010773	Partial anomalous pulmonary venous return
4838	NODAL	HP:0004970	Ascending tubular aorta aneurysm
4838	NODAL	HP:0004935	Pulmonary artery atresia
4838	NODAL	HP:0031860	Abnormal heart rate variability
4838	NODAL	HP:0000612	Iris coloboma
4838	NODAL	HP:0000601	Hypotelorism
4838	NODAL	HP:0009062	Infantile axial hypotonia
4838	NODAL	HP:0012650	Perisylvian polymicrogyria
4838	NODAL	HP:0004322	Short stature
4838	NODAL	HP:0006979	Sleep-wake cycle disturbance
4838	NODAL	HP:0030680	Abnormality of cardiovascular system morphology
4838	NODAL	HP:0031913	Rhombencephalosynapsis
4838	NODAL	HP:0000772	Abnormal rib morphology
4838	NODAL	HP:0000737	Irritability
4838	NODAL	HP:0000739	Anxiety
4838	NODAL	HP:0000736	Short attention span
4838	NODAL	HP:0012718	Morphological abnormality of the gastrointestinal tract
4838	NODAL	HP:0000741	Apathy
4838	NODAL	HP:0000716	Depression
4838	NODAL	HP:0000708	Atypical behavior
4838	NODAL	HP:0011471	Gastrostomy tube feeding in infancy
4838	NODAL	HP:0011442	Abnormal central motor function
4838	NODAL	HP:0003196	Short nose
4838	NODAL	HP:0000924	Abnormality of the skeletal system
4838	NODAL	HP:0004478	Ethmoidal encephalocele
4838	NODAL	HP:0011536	Right atrial isomerism
4838	NODAL	HP:0000873	Diabetes insipidus
4838	NODAL	HP:0000871	Panhypopituitarism
4838	NODAL	HP:0000863	Central diabetes insipidus
4838	NODAL	HP:0000830	Anterior hypopituitarism
4838	NODAL	HP:0012806	Proboscis
4838	NODAL	HP:0000818	Abnormality of the endocrine system
4838	NODAL	HP:0000826	Precocious puberty
4838	NODAL	HP:0000821	Hypothyroidism
4838	NODAL	HP:0000824	Decreased response to growth hormone stimulation test
4838	NODAL	HP:0040064	Abnormality of limbs
4838	NODAL	HP:0011555	Double inlet left ventricle
4838	NODAL	HP:0010305	Absence of the sacrum
4838	NODAL	HP:0045005	Neural tube defect
4838	NODAL	HP:0011699	Atrial reentry tachycardia
4838	NODAL	HP:0012285	Abnormal hypothalamus physiology
4838	NODAL	HP:0000256	Macrocephaly
4838	NODAL	HP:0002827	Hip dislocation
4838	NODAL	HP:0000238	Hydrocephalus
4838	NODAL	HP:0000252	Microcephaly
4838	NODAL	HP:0000218	High palate
4838	NODAL	HP:0001545	Anteriorly placed anus
4838	NODAL	HP:0031348	Dextrotransposition of the great arteries
4838	NODAL	HP:0002871	Central apnea
4838	NODAL	HP:0000202	Orofacial cleft
4838	NODAL	HP:0001508	Failure to thrive
4838	NODAL	HP:0001511	Intrauterine growth retardation
4838	NODAL	HP:0001510	Growth delay
4838	NODAL	HP:0006528	Chronic lung disease
4838	NODAL	HP:0005160	Total anomalous pulmonary venous return
4838	NODAL	HP:0001680	Coarctation of aorta
4838	NODAL	HP:0001651	Dextrocardia
4838	NODAL	HP:0001643	Patent ductus arteriosus
4838	NODAL	HP:0000322	Short philtrum
4838	NODAL	HP:0001629	Ventricular septal defect
4838	NODAL	HP:0001627	Abnormal heart morphology
4838	NODAL	HP:0001622	Premature birth
4838	NODAL	HP:0001636	Tetralogy of Fallot
4838	NODAL	HP:0001631	Atrial septal defect
4838	NODAL	HP:0006695	Atrioventricular canal defect
4838	NODAL	HP:0000407	Sensorineural hearing impairment
4838	NODAL	HP:0001719	Double outlet right ventricle
4838	NODAL	HP:0000486	Strabismus
4838	NODAL	HP:0000478	Abnormality of the eye
4838	NODAL	HP:0000463	Anteverted nares
4838	NODAL	HP:0031565	Abdominal situs ambiguus
4838	NODAL	HP:0000457	Depressed nasal ridge
4838	NODAL	HP:0000453	Choanal atresia
4838	NODAL	HP:0000446	Narrow nasal bridge
4838	NODAL	HP:0001750	Single ventricle
4838	NODAL	HP:0001746	Asplenia
4841	NONO	HP:0002465	Poor speech
4841	NONO	HP:0100962	Shyness
4841	NONO	HP:0002421	Poor head control
4841	NONO	HP:0001290	Generalized hypotonia
4841	NONO	HP:0001270	Motor delay
4841	NONO	HP:0001256	Intellectual disability, mild
4841	NONO	HP:0001250	Seizure
4841	NONO	HP:0001252	Hypotonia
4841	NONO	HP:0001251	Ataxia
4841	NONO	HP:0001249	Intellectual disability
4841	NONO	HP:0001263	Global developmental delay
4841	NONO	HP:0002558	Supernumerary nipple
4841	NONO	HP:0007449	Confetti-like hypopigmented macules
4841	NONO	HP:0008689	Bilateral cryptorchidism
4841	NONO	HP:0001388	Joint laxity
4841	NONO	HP:0002684	Thickened calvaria
4841	NONO	HP:0001357	Plagiocephaly
4841	NONO	HP:0000028	Cryptorchidism
4841	NONO	HP:0001337	Tremor
4841	NONO	HP:0002650	Scoliosis
4841	NONO	HP:0001321	Cerebellar hypoplasia
4841	NONO	HP:0001319	Neonatal hypotonia
4841	NONO	HP:0000194	Open mouth
4841	NONO	HP:0000160	Narrow mouth
4841	NONO	HP:0000154	Wide mouth
4841	NONO	HP:0008936	Axial hypotonia
4841	NONO	HP:0002705	High, narrow palate
4841	NONO	HP:0002751	Kyphoscoliosis
4841	NONO	HP:0001419	X-linked recessive inheritance
4841	NONO	HP:0004684	Talipes valgus
4841	NONO	HP:0002020	Gastroesophageal reflux
4841	NONO	HP:0002033	Poor suck
4841	NONO	HP:0002007	Frontal bossing
4841	NONO	HP:0011819	Submucous cleft soft palate
4841	NONO	HP:0002080	Intention tremor
4841	NONO	HP:0002079	Hypoplasia of the corpus callosum
4841	NONO	HP:0040288	Nasogastric tube feeding
4841	NONO	HP:0002194	Delayed gross motor development
4841	NONO	HP:0100710	Impulsivity
4841	NONO	HP:0009703	Synostosis involving the 1st metacarpal
4841	NONO	HP:0032009	Infantile constant exotropia
4841	NONO	HP:0007024	Pseudobulbar paralysis
4841	NONO	HP:0011968	Feeding difficulties
4841	NONO	HP:0010627	Anterior pituitary hypoplasia
4841	NONO	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
4841	NONO	HP:0007099	Chiari type I malformation
4841	NONO	HP:0007083	Hyperactive patellar reflex
4841	NONO	HP:0007074	Thick corpus callosum
4841	NONO	HP:0002307	Drooling
4841	NONO	HP:0004209	Clinodactyly of the 5th finger
4841	NONO	HP:0012683	Pineal cyst
4841	NONO	HP:0011342	Mild global developmental delay
4841	NONO	HP:0000678	Dental crowding
4841	NONO	HP:0000687	Widely spaced teeth
4841	NONO	HP:0001999	Abnormal facial shape
4841	NONO	HP:0006989	Dysplastic corpus callosum
4841	NONO	HP:0030682	Left ventricular noncompaction
4841	NONO	HP:0031936	Delayed ability to walk
4841	NONO	HP:0000739	Anxiety
4841	NONO	HP:0000750	Delayed speech and language development
4841	NONO	HP:0000718	Aggressive behavior
4841	NONO	HP:0000717	Autism
4841	NONO	HP:0004411	Deviated nasal septum
4841	NONO	HP:0004482	Relative macrocephaly
4841	NONO	HP:0000823	Delayed puberty
4841	NONO	HP:0030872	Abnormal cardiac ventricular function
4841	NONO	HP:0010316	Ebstein anomaly of the tricuspid valve
4841	NONO	HP:0040194	Increased head circumference
4841	NONO	HP:0011664	Left ventricular noncompaction cardiomyopathy
4841	NONO	HP:0000286	Epicanthus
4841	NONO	HP:0000256	Macrocephaly
4841	NONO	HP:0000276	Long face
4841	NONO	HP:0000272	Malar flattening
4841	NONO	HP:0002808	Kyphosis
4841	NONO	HP:0000219	Thin upper lip vermilion
4841	NONO	HP:0002870	Obstructive sleep apnea
4841	NONO	HP:0001533	Slender build
4841	NONO	HP:0001508	Failure to thrive
4841	NONO	HP:0011098	Speech apraxia
4841	NONO	HP:0001611	Hypernasal speech
4841	NONO	HP:0005180	Tricuspid regurgitation
4841	NONO	HP:0001667	Right ventricular hypertrophy
4841	NONO	HP:0000316	Hypertelorism
4841	NONO	HP:0001643	Patent ductus arteriosus
4841	NONO	HP:0000322	Short philtrum
4841	NONO	HP:0000325	Triangular face
4841	NONO	HP:0001655	Patent foramen ovale
4841	NONO	HP:0001629	Ventricular septal defect
4841	NONO	HP:0001640	Cardiomegaly
4841	NONO	HP:0001631	Atrial septal defect
4841	NONO	HP:0032988	Persistent head lag
4841	NONO	HP:0001712	Left ventricular hypertrophy
4841	NONO	HP:0001711	Abnormal left ventricle morphology
4841	NONO	HP:0000486	Strabismus
4841	NONO	HP:0012471	Thick vermilion border
4841	NONO	HP:0000494	Downslanted palpebral fissures
4841	NONO	HP:0001763	Pes planus
4841	NONO	HP:0000448	Prominent nose
4841	NONO	HP:0000446	Narrow nasal bridge
4841	NONO	HP:0000426	Prominent nasal bridge
4841	NONO	HP:0001822	Hallux valgus
4841	NONO	HP:0000582	Upslanted palpebral fissure
4841	NONO	HP:0000545	Myopia
4842	NOS1	HP:0031085	Decreased prealbumin level
4842	NOS1	HP:0002020	Gastroesophageal reflux
4842	NOS1	HP:0002015	Dysphagia
4842	NOS1	HP:0002100	Recurrent aspiration pneumonia
4842	NOS1	HP:0100749	Chest pain
4842	NOS1	HP:0004395	Malnutrition
4842	NOS1	HP:0012735	Cough
4842	NOS1	HP:0030828	Wheezing
4842	NOS1	HP:0012387	Bronchitis
4842	NOS1	HP:0001824	Weight loss
4846	NOS3	HP:0002423	Long-tract signs
4846	NOS3	HP:0001297	Stroke
4846	NOS3	HP:0001250	Seizure
4846	NOS3	HP:0002511	Alzheimer disease
4846	NOS3	HP:0000093	Proteinuria
4846	NOS3	HP:0000006	Autosomal dominant inheritance
4846	NOS3	HP:0001300	Parkinsonism
4846	NOS3	HP:0410054	Decreased circulating GABA concentration
4846	NOS3	HP:0001426	Multifactorial inheritance
4846	NOS3	HP:0002185	Neurofibrillary tangles
4846	NOS3	HP:0003581	Adult onset
4846	NOS3	HP:0100601	Eclampsia
4846	NOS3	HP:0100602	Preeclampsia
4846	NOS3	HP:0004972	Elevated mean arterial pressure
4846	NOS3	HP:0000726	Dementia
4846	NOS3	HP:0004421	Elevated systolic blood pressure
4846	NOS3	HP:0000822	Hypertension
4846	NOS3	HP:0000969	Edema
4846	NOS3	HP:0008071	Maternal hypertension
4846	NOS3	HP:0005117	Elevated diastolic blood pressure
4846	NOS3	HP:0001511	Intrauterine growth retardation
4846	NOS3	HP:0002910	Elevated hepatic transaminase
4846	NOS3	HP:0001873	Thrombocytopenia
4848	CNOT2	HP:0001290	Generalized hypotonia
4848	CNOT2	HP:0001270	Motor delay
4848	CNOT2	HP:0008872	Feeding difficulties in infancy
4848	CNOT2	HP:0000006	Autosomal dominant inheritance
4848	CNOT2	HP:0002650	Scoliosis
4848	CNOT2	HP:0004691	2-3 toe syndactyly
4848	CNOT2	HP:0001007	Hirsutism
4848	CNOT2	HP:0004209	Clinodactyly of the 5th finger
4848	CNOT2	HP:0000692	Tooth malposition
4848	CNOT2	HP:0000750	Delayed speech and language development
4848	CNOT2	HP:0009237	Short 5th finger
4848	CNOT2	HP:0000219	Thin upper lip vermilion
4848	CNOT2	HP:0000365	Hearing impairment
4848	CNOT2	HP:0000369	Low-set ears
4848	CNOT2	HP:0000347	Micrognathia
4848	CNOT2	HP:0000463	Anteverted nares
4848	CNOT2	HP:0000527	Long eyelashes
4848	CNOT2	HP:0000582	Upslanted palpebral fissure
4848	CNOT2	HP:0011228	Horizontal eyebrow
4848	CNOT2	HP:0000574	Thick eyebrow
4849	CNOT3	HP:0001182	Tapered finger
4849	CNOT3	HP:0010862	Delayed fine motor development
4849	CNOT3	HP:0001252	Hypotonia
4849	CNOT3	HP:0001249	Intellectual disability
4849	CNOT3	HP:0001263	Global developmental delay
4849	CNOT3	HP:0001385	Hip dysplasia
4849	CNOT3	HP:0001357	Plagiocephaly
4849	CNOT3	HP:0008872	Feeding difficulties in infancy
4849	CNOT3	HP:0000006	Autosomal dominant inheritance
4849	CNOT3	HP:0002714	Downturned corners of mouth
4849	CNOT3	HP:0002079	Hypoplasia of the corpus callosum
4849	CNOT3	HP:0002188	Delayed CNS myelination
4849	CNOT3	HP:0002194	Delayed gross motor development
4849	CNOT3	HP:0002162	Low posterior hairline
4849	CNOT3	HP:0003593	Infantile onset
4849	CNOT3	HP:0002280	Enlarged cisterna magna
4849	CNOT3	HP:0007074	Thick corpus callosum
4849	CNOT3	HP:0200055	Small hand
4849	CNOT3	HP:0004209	Clinodactyly of the 5th finger
4849	CNOT3	HP:0000639	Nystagmus
4849	CNOT3	HP:0000648	Optic atrophy
4849	CNOT3	HP:0000601	Hypotelorism
4849	CNOT3	HP:0031936	Delayed ability to walk
4849	CNOT3	HP:0000729	Autistic behavior
4849	CNOT3	HP:0000272	Malar flattening
4849	CNOT3	HP:0000268	Dolichocephaly
4849	CNOT3	HP:0000269	Prominent occiput
4849	CNOT3	HP:0000248	Brachycephaly
4849	CNOT3	HP:0000369	Low-set ears
4849	CNOT3	HP:0000316	Hypertelorism
4849	CNOT3	HP:0000322	Short philtrum
4849	CNOT3	HP:0000303	Mandibular prognathia
4849	CNOT3	HP:0000407	Sensorineural hearing impairment
4849	CNOT3	HP:0000405	Conductive hearing impairment
4849	CNOT3	HP:0000486	Strabismus
4849	CNOT3	HP:0000490	Deeply set eye
4849	CNOT3	HP:0000463	Anteverted nares
4849	CNOT3	HP:0000457	Depressed nasal ridge
4849	CNOT3	HP:0001763	Pes planus
4849	CNOT3	HP:0000582	Upslanted palpebral fissure
4849	CNOT3	HP:0011220	Prominent forehead
4849	CNOT3	HP:0000540	Hypermetropia
4851	NOTCH1	HP:0001171	Split hand
4851	NOTCH1	HP:0001156	Brachydactyly
4851	NOTCH1	HP:0025107	Cutis marmorata telangiectatica congenita
4851	NOTCH1	HP:0001159	Syndactyly
4851	NOTCH1	HP:0009882	Short distal phalanx of finger
4851	NOTCH1	HP:0001276	Hypertonia
4851	NOTCH1	HP:0001269	Hemiparesis
4851	NOTCH1	HP:0001250	Seizure
4851	NOTCH1	HP:0001249	Intellectual disability
4851	NOTCH1	HP:0006101	Finger syndactyly
4851	NOTCH1	HP:0001394	Cirrhosis
4851	NOTCH1	HP:0000023	Inguinal hernia
4851	NOTCH1	HP:0001362	Calvarial skull defect
4851	NOTCH1	HP:0000006	Autosomal dominant inheritance
4851	NOTCH1	HP:0002612	Congenital hepatic fibrosis
4851	NOTCH1	HP:0001409	Portal hypertension
4851	NOTCH1	HP:0002084	Encephalocele
4851	NOTCH1	HP:0002092	Pulmonary arterial hypertension
4851	NOTCH1	HP:0002040	Esophageal varix
4851	NOTCH1	HP:0005916	Abnormal metacarpal morphology
4851	NOTCH1	HP:0002132	Porencephalic cyst
4851	NOTCH1	HP:0003577	Congenital onset
4851	NOTCH1	HP:0002239	Gastrointestinal hemorrhage
4851	NOTCH1	HP:0010624	Aplastic/hypoplastic toenail
4851	NOTCH1	HP:0001057	Aplasia cutis congenita
4851	NOTCH1	HP:0001048	Cavernous hemangioma
4851	NOTCH1	HP:0002353	EEG abnormality
4851	NOTCH1	HP:0010760	Absent toe
4851	NOTCH1	HP:0004962	Thoracic aorta calcification
4851	NOTCH1	HP:0004935	Pulmonary artery atresia
4851	NOTCH1	HP:0004933	Ascending aortic dissection
4851	NOTCH1	HP:0001971	Hypersplenism
4851	NOTCH1	HP:0006970	Periventricular leukomalacia
4851	NOTCH1	HP:0004383	Hypoplastic left heart
4851	NOTCH1	HP:0004380	Aortic valve calcification
4851	NOTCH1	HP:0100026	Arteriovenous malformation
4851	NOTCH1	HP:0030718	Right atrial enlargement
4851	NOTCH1	HP:0000822	Hypertension
4851	NOTCH1	HP:0011560	Mitral atresia
4851	NOTCH1	HP:0000965	Cutis marmorata
4851	NOTCH1	HP:0008070	Sparse hair
4851	NOTCH1	HP:0008065	Aplasia/Hypoplasia of the skin
4851	NOTCH1	HP:0001596	Alopecia
4851	NOTCH1	HP:0005113	Aortic arch aneurysm
4851	NOTCH1	HP:0002817	Abnormality of the upper limb
4851	NOTCH1	HP:0002814	Abnormality of the lower limb
4851	NOTCH1	HP:0000238	Hydrocephalus
4851	NOTCH1	HP:0001541	Ascites
4851	NOTCH1	HP:0001537	Umbilical hernia
4851	NOTCH1	HP:0001508	Failure to thrive
4851	NOTCH1	HP:0001667	Right ventricular hypertrophy
4851	NOTCH1	HP:0001680	Coarctation of aorta
4851	NOTCH1	HP:0001650	Aortic valve stenosis
4851	NOTCH1	HP:0001647	Bicuspid aortic valve
4851	NOTCH1	HP:0001642	Pulmonic stenosis
4851	NOTCH1	HP:0030148	Heart murmur
4851	NOTCH1	HP:0001659	Aortic regurgitation
4851	NOTCH1	HP:0001655	Patent foramen ovale
4851	NOTCH1	HP:0001629	Ventricular septal defect
4851	NOTCH1	HP:0001622	Premature birth
4851	NOTCH1	HP:0001641	Abnormal pulmonary valve morphology
4851	NOTCH1	HP:0001636	Tetralogy of Fallot
4851	NOTCH1	HP:0004050	Absent hand
4851	NOTCH1	HP:0001719	Double outlet right ventricle
4851	NOTCH1	HP:0001718	Mitral stenosis
4851	NOTCH1	HP:0000486	Strabismus
4851	NOTCH1	HP:0030242	Portal vein thrombosis
4851	NOTCH1	HP:0011103	Abnormal left ventricular outflow tract morphology
4851	NOTCH1	HP:0001744	Splenomegaly
4851	NOTCH1	HP:0000518	Cataract
4851	NOTCH1	HP:0001804	Hypoplastic fingernail
4851	NOTCH1	HP:0001800	Hypoplastic toenails
4851	NOTCH1	HP:0001802	Absent toenail
4851	NOTCH1	HP:0001817	Absent fingernail
4851	NOTCH1	HP:0001810	Dystrophic toenail
4851	NOTCH1	HP:0000568	Microphthalmia
4851	NOTCH1	HP:0001883	Talipes
4851	NOTCH1	HP:0001882	Leukopenia
4851	NOTCH1	HP:0001873	Thrombocytopenia
4853	NOTCH2	HP:0001156	Brachydactyly
4853	NOTCH2	HP:0009882	Short distal phalanx of finger
4853	NOTCH2	HP:0001249	Intellectual disability
4853	NOTCH2	HP:0001263	Global developmental delay
4853	NOTCH2	HP:0001231	Abnormal fingernail morphology
4853	NOTCH2	HP:0002566	Intestinal malrotation
4853	NOTCH2	HP:0000089	Renal hypoplasia
4853	NOTCH2	HP:0000083	Renal insufficiency
4853	NOTCH2	HP:0000093	Proteinuria
4853	NOTCH2	HP:0001396	Cholestasis
4853	NOTCH2	HP:0001388	Joint laxity
4853	NOTCH2	HP:0000047	Hypospadias
4853	NOTCH2	HP:0000023	Inguinal hernia
4853	NOTCH2	HP:0002691	Platybasia
4853	NOTCH2	HP:0000028	Cryptorchidism
4853	NOTCH2	HP:0002688	Absent frontal sinuses
4853	NOTCH2	HP:0006180	Crowded carpal bones
4853	NOTCH2	HP:0000006	Autosomal dominant inheritance
4853	NOTCH2	HP:0002652	Skeletal dysplasia
4853	NOTCH2	HP:0002653	Bone pain
4853	NOTCH2	HP:0002650	Scoliosis
4853	NOTCH2	HP:0002645	Wormian bones
4853	NOTCH2	HP:0002611	Cholestatic liver disease
4853	NOTCH2	HP:0000164	Abnormality of the dentition
4853	NOTCH2	HP:0000160	Narrow mouth
4853	NOTCH2	HP:0000175	Cleft palate
4853	NOTCH2	HP:0002797	Osteolysis
4853	NOTCH2	HP:0000113	Polycystic kidney dysplasia
4853	NOTCH2	HP:0002757	Recurrent fractures
4853	NOTCH2	HP:0002756	Pathologic fracture
4853	NOTCH2	HP:0000107	Renal cyst
4853	NOTCH2	HP:0002751	Kyphoscoliosis
4853	NOTCH2	HP:0002714	Downturned corners of mouth
4853	NOTCH2	HP:0003396	Syringomyelia
4853	NOTCH2	HP:0010502	Fibular bowing
4853	NOTCH2	HP:0002240	Hepatomegaly
4853	NOTCH2	HP:0002230	Generalized hirsutism
4853	NOTCH2	HP:0002208	Coarse hair
4853	NOTCH2	HP:0002205	Recurrent respiratory infections
4853	NOTCH2	HP:0009748	Large earlobe
4853	NOTCH2	HP:0100790	Hernia
4853	NOTCH2	HP:0010669	Hypoplasia of the zygomatic bone
4853	NOTCH2	HP:0001007	Hirsutism
4853	NOTCH2	HP:0002315	Headache
4853	NOTCH2	HP:0100670	Coarse metaphyseal trabecularization
4853	NOTCH2	HP:0009830	Peripheral neuropathy
4853	NOTCH2	HP:0010807	Open bite
4853	NOTCH2	HP:0001072	Thickened skin
4853	NOTCH2	HP:0200042	Skin ulcer
4853	NOTCH2	HP:0008462	Cervical instability
4853	NOTCH2	HP:0009771	Osteolytic defects of the phalanges of the hand
4853	NOTCH2	HP:0008421	Tall lumbar vertebral bodies
4853	NOTCH2	HP:0008424	Hypoplastic 5th lumbar vertebrae
4853	NOTCH2	HP:0002308	Chiari malformation
4853	NOTCH2	HP:0004969	Peripheral pulmonary artery stenosis
4853	NOTCH2	HP:0005562	Multiple renal cysts
4853	NOTCH2	HP:0001947	Renal tubular acidosis
4853	NOTCH2	HP:0000612	Iris coloboma
4853	NOTCH2	HP:0000627	Posterior embryotoxon
4853	NOTCH2	HP:0000689	Dental malocclusion
4853	NOTCH2	HP:0011305	Partial absence of toe
4853	NOTCH2	HP:0001999	Abnormal facial shape
4853	NOTCH2	HP:0000664	Synophrys
4853	NOTCH2	HP:0004322	Short stature
4853	NOTCH2	HP:0004331	Decreased skull ossification
4853	NOTCH2	HP:0030680	Abnormality of cardiovascular system morphology
4853	NOTCH2	HP:0003083	Dislocated radial head
4853	NOTCH2	HP:0005692	Joint hyperflexibility
4853	NOTCH2	HP:0000768	Pectus carinatum
4853	NOTCH2	HP:0000704	Periodontitis
4853	NOTCH2	HP:0000790	Hematuria
4853	NOTCH2	HP:0005758	Basilar impression
4853	NOTCH2	HP:0000929	Abnormal skull morphology
4853	NOTCH2	HP:0003189	Long nose
4853	NOTCH2	HP:0000822	Hypertension
4853	NOTCH2	HP:0000823	Delayed puberty
4853	NOTCH2	HP:0004586	Biconcave vertebral bodies
4853	NOTCH2	HP:0000958	Dry skin
4853	NOTCH2	HP:0000939	Osteoporosis
4853	NOTCH2	HP:0000938	Osteopenia
4853	NOTCH2	HP:0000286	Epicanthus
4853	NOTCH2	HP:0000280	Coarse facial features
4853	NOTCH2	HP:0000293	Full cheeks
4853	NOTCH2	HP:0000294	Low anterior hairline
4853	NOTCH2	HP:0000256	Macrocephaly
4853	NOTCH2	HP:0000277	Abnormal mandible morphology
4853	NOTCH2	HP:0000272	Malar flattening
4853	NOTCH2	HP:0000268	Dolichocephaly
4853	NOTCH2	HP:0000269	Prominent occiput
4853	NOTCH2	HP:0002829	Arthralgia
4853	NOTCH2	HP:0002808	Kyphosis
4853	NOTCH2	HP:0000238	Hydrocephalus
4853	NOTCH2	HP:0000218	High palate
4853	NOTCH2	HP:0000233	Thin vermilion border
4853	NOTCH2	HP:0002857	Genu valgum
4853	NOTCH2	HP:0001537	Umbilical hernia
4853	NOTCH2	HP:0001508	Failure to thrive
4853	NOTCH2	HP:0001608	Abnormality of the voice
4853	NOTCH2	HP:0006480	Premature loss of teeth
4853	NOTCH2	HP:0006487	Bowing of the long bones
4853	NOTCH2	HP:0000365	Hearing impairment
4853	NOTCH2	HP:0000369	Low-set ears
4853	NOTCH2	HP:0000343	Long philtrum
4853	NOTCH2	HP:0000337	Broad forehead
4853	NOTCH2	HP:0002999	Patellar dislocation
4853	NOTCH2	HP:0000347	Micrognathia
4853	NOTCH2	HP:0001650	Aortic valve stenosis
4853	NOTCH2	HP:0000316	Hypertelorism
4853	NOTCH2	HP:0001643	Patent ductus arteriosus
4853	NOTCH2	HP:0001642	Pulmonic stenosis
4853	NOTCH2	HP:0000325	Triangular face
4853	NOTCH2	HP:0001629	Ventricular septal defect
4853	NOTCH2	HP:0002953	Vertebral compression fracture
4853	NOTCH2	HP:0001636	Tetralogy of Fallot
4853	NOTCH2	HP:0000307	Pointed chin
4853	NOTCH2	HP:0001631	Atrial septal defect
4853	NOTCH2	HP:0000405	Conductive hearing impairment
4853	NOTCH2	HP:0001718	Mitral stenosis
4853	NOTCH2	HP:0000494	Downslanted palpebral fissures
4853	NOTCH2	HP:0000463	Anteverted nares
4853	NOTCH2	HP:0000470	Short neck
4853	NOTCH2	HP:0001799	Short nail
4853	NOTCH2	HP:0000445	Wide nose
4853	NOTCH2	HP:0001744	Splenomegaly
4853	NOTCH2	HP:0000431	Wide nasal bridge
4853	NOTCH2	HP:0005463	Elongated sella turcica
4853	NOTCH2	HP:0000518	Cataract
4853	NOTCH2	HP:0001842	Foot acroosteolysis
4853	NOTCH2	HP:0000527	Long eyelashes
4853	NOTCH2	HP:0000506	Telecanthus
4853	NOTCH2	HP:0001831	Short toe
4853	NOTCH2	HP:0000574	Thick eyebrow
4853	NOTCH2	HP:0000545	Myopia
4854	NOTCH3	HP:0002463	Language impairment
4854	NOTCH3	HP:0002435	Meningocele
4854	NOTCH3	HP:0007236	Recurrent subcortical infarcts
4854	NOTCH3	HP:0001298	Encephalopathy
4854	NOTCH3	HP:0001297	Stroke
4854	NOTCH3	HP:0001270	Motor delay
4854	NOTCH3	HP:0001269	Hemiparesis
4854	NOTCH3	HP:0001289	Confusion
4854	NOTCH3	HP:0001288	Gait disturbance
4854	NOTCH3	HP:0100835	Benign neoplasm of the central nervous system
4854	NOTCH3	HP:0001250	Seizure
4854	NOTCH3	HP:0001252	Hypotonia
4854	NOTCH3	HP:0001249	Intellectual disability
4854	NOTCH3	HP:0001260	Dysarthria
4854	NOTCH3	HP:0001263	Global developmental delay
4854	NOTCH3	HP:0001257	Spasticity
4854	NOTCH3	HP:0002575	Tracheoesophageal fistula
4854	NOTCH3	HP:0007400	Irregular hyperpigmentation
4854	NOTCH3	HP:0010992	Stress urinary incontinence
4854	NOTCH3	HP:0032325	Lacunar stroke
4854	NOTCH3	HP:0002500	Abnormal cerebral white matter morphology
4854	NOTCH3	HP:0012062	Bone cyst
4854	NOTCH3	HP:0000077	Abnormality of the kidney
4854	NOTCH3	HP:0001376	Limitation of joint mobility
4854	NOTCH3	HP:0001382	Joint hypermobility
4854	NOTCH3	HP:0000023	Inguinal hernia
4854	NOTCH3	HP:0002684	Thickened calvaria
4854	NOTCH3	HP:0000020	Urinary incontinence
4854	NOTCH3	HP:0002694	Sclerosis of skull base
4854	NOTCH3	HP:0002691	Platybasia
4854	NOTCH3	HP:0000028	Cryptorchidism
4854	NOTCH3	HP:0001342	Cerebral hemorrhage
4854	NOTCH3	HP:0000011	Neurogenic bladder
4854	NOTCH3	HP:0000006	Autosomal dominant inheritance
4854	NOTCH3	HP:0002637	Cerebral ischemia
4854	NOTCH3	HP:0002650	Scoliosis
4854	NOTCH3	HP:0002645	Wormian bones
4854	NOTCH3	HP:0002619	Varicose veins
4854	NOTCH3	HP:0001300	Parkinsonism
4854	NOTCH3	HP:0000175	Cleft palate
4854	NOTCH3	HP:0000169	Gingival fibromatosis
4854	NOTCH3	HP:0002797	Osteolysis
4854	NOTCH3	HP:0001482	Subcutaneous nodule
4854	NOTCH3	HP:0007634	Nonarteritic anterior ischemic optic neuropathy
4854	NOTCH3	HP:0002705	High, narrow palate
4854	NOTCH3	HP:0002015	Dysphagia
4854	NOTCH3	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI
4854	NOTCH3	HP:0003312	Abnormal form of the vertebral bodies
4854	NOTCH3	HP:0003307	Hyperlordosis
4854	NOTCH3	HP:0100526	Neoplasm of the lung
4854	NOTCH3	HP:0100545	Arterial stenosis
4854	NOTCH3	HP:0100543	Cognitive impairment
4854	NOTCH3	HP:0003396	Syringomyelia
4854	NOTCH3	HP:0002076	Migraine
4854	NOTCH3	HP:0002077	Migraine with aura
4854	NOTCH3	HP:0002144	Tethered cord
4854	NOTCH3	HP:0002140	Ischemic stroke
4854	NOTCH3	HP:0002162	Low posterior hairline
4854	NOTCH3	HP:0002170	Intracranial hemorrhage
4854	NOTCH3	HP:0010562	Keloids
4854	NOTCH3	HP:0003596	Middle age onset
4854	NOTCH3	HP:0003577	Congenital onset
4854	NOTCH3	HP:0002242	Abnormal intestine morphology
4854	NOTCH3	HP:0100702	Arachnoid cyst
4854	NOTCH3	HP:0002208	Coarse hair
4854	NOTCH3	HP:0100775	Dural ectasia
4854	NOTCH3	HP:0007024	Pseudobulbar paralysis
4854	NOTCH3	HP:0010614	Fibroma
4854	NOTCH3	HP:0007099	Chiari type I malformation
4854	NOTCH3	HP:0002381	Aphasia
4854	NOTCH3	HP:0002354	Memory impairment
4854	NOTCH3	HP:0002352	Leukoencephalopathy
4854	NOTCH3	HP:0002333	Motor deterioration
4854	NOTCH3	HP:0003657	Granular osmiophilic deposits (GROD) in cells
4854	NOTCH3	HP:0002326	Transient ischemic attack
4854	NOTCH3	HP:0009830	Peripheral neuropathy
4854	NOTCH3	HP:0200042	Skin ulcer
4854	NOTCH3	HP:0010794	Impaired visuospatial constructive cognition
4854	NOTCH3	HP:0007123	Subcortical dementia
4854	NOTCH3	HP:0002301	Hemiplegia
4854	NOTCH3	HP:0002308	Chiari malformation
4854	NOTCH3	HP:0004942	Aortic aneurysm
4854	NOTCH3	HP:0007185	Loss of consciousness
4854	NOTCH3	HP:0020135	Myofibromatosis
4854	NOTCH3	HP:0031843	Bradyphrenia
4854	NOTCH3	HP:0000649	Abnormality of visual evoked potentials
4854	NOTCH3	HP:0000612	Iris coloboma
4854	NOTCH3	HP:0012671	Abulia
4854	NOTCH3	HP:0000678	Dental crowding
4854	NOTCH3	HP:0004322	Short stature
4854	NOTCH3	HP:0003072	Hypercalcemia
4854	NOTCH3	HP:0005692	Joint hyperflexibility
4854	NOTCH3	HP:0004374	Hemiplegia/hemiparesis
4854	NOTCH3	HP:0003011	Abnormality of the musculature
4854	NOTCH3	HP:0000751	Personality changes
4854	NOTCH3	HP:0000767	Pectus excavatum
4854	NOTCH3	HP:0000765	Abnormal thorax morphology
4854	NOTCH3	HP:0000739	Anxiety
4854	NOTCH3	HP:0000741	Apathy
4854	NOTCH3	HP:0000716	Depression
4854	NOTCH3	HP:0000712	Emotional lability
4854	NOTCH3	HP:0000726	Dementia
4854	NOTCH3	HP:0000709	Psychosis
4854	NOTCH3	HP:0011462	Young adult onset
4854	NOTCH3	HP:0004452	Abnormality of the middle ear ossicles
4854	NOTCH3	HP:0003199	Decreased muscle mass
4854	NOTCH3	HP:0003194	Short nasal bridge
4854	NOTCH3	HP:0000929	Abnormal skull morphology
4854	NOTCH3	HP:0004493	Craniofacial hyperostosis
4854	NOTCH3	HP:0000819	Diabetes mellitus
4854	NOTCH3	HP:0000822	Hypertension
4854	NOTCH3	HP:0004586	Biconcave vertebral bodies
4854	NOTCH3	HP:0000934	Chondrocalcinosis
4854	NOTCH3	HP:0100242	Sarcoma
4854	NOTCH3	HP:0000944	Abnormal metaphysis morphology
4854	NOTCH3	HP:0008069	Neoplasm of the skin
4854	NOTCH3	HP:0000286	Epicanthus
4854	NOTCH3	HP:0001595	Abnormal hair morphology
4854	NOTCH3	HP:0000275	Narrow face
4854	NOTCH3	HP:0000271	Abnormality of the face
4854	NOTCH3	HP:0000272	Malar flattening
4854	NOTCH3	HP:0000268	Dolichocephaly
4854	NOTCH3	HP:0005107	Abnormal sacrum morphology
4854	NOTCH3	HP:0002808	Kyphosis
4854	NOTCH3	HP:0000238	Hydrocephalus
4854	NOTCH3	HP:0000218	High palate
4854	NOTCH3	HP:0002894	Neoplasm of the pancreas
4854	NOTCH3	HP:0002870	Obstructive sleep apnea
4854	NOTCH3	HP:0001537	Umbilical hernia
4854	NOTCH3	HP:0005214	Intestinal obstruction
4854	NOTCH3	HP:0002948	Vertebral fusion
4854	NOTCH3	HP:0000358	Posteriorly rotated ears
4854	NOTCH3	HP:0000369	Low-set ears
4854	NOTCH3	HP:0000343	Long philtrum
4854	NOTCH3	HP:0000347	Micrognathia
4854	NOTCH3	HP:0000319	Smooth philtrum
4854	NOTCH3	HP:0001647	Bicuspid aortic valve
4854	NOTCH3	HP:0000316	Hypertelorism
4854	NOTCH3	HP:0001643	Patent ductus arteriosus
4854	NOTCH3	HP:0001629	Ventricular septal defect
4854	NOTCH3	HP:0000407	Sensorineural hearing impairment
4854	NOTCH3	HP:0000405	Conductive hearing impairment
4854	NOTCH3	HP:0000478	Abnormality of the eye
4854	NOTCH3	HP:0000494	Downslanted palpebral fissures
4854	NOTCH3	HP:0012444	Brain atrophy
4854	NOTCH3	HP:0000470	Short neck
4854	NOTCH3	HP:0000413	Atresia of the external auditory canal
4854	NOTCH3	HP:0005487	Prominent metopic ridge
4854	NOTCH3	HP:0000512	Abnormal electroretinogram
4854	NOTCH3	HP:0000520	Proptosis
4854	NOTCH3	HP:0000506	Telecanthus
4854	NOTCH3	HP:0000508	Ptosis
4854	NOTCH3	HP:0000572	Visual loss
4858	NOVA2	HP:0009890	High anterior hairline
4858	NOVA2	HP:0001290	Generalized hypotonia
4858	NOVA2	HP:0001270	Motor delay
4858	NOVA2	HP:0001250	Seizure
4858	NOVA2	HP:0001249	Intellectual disability
4858	NOVA2	HP:0001257	Spasticity
4858	NOVA2	HP:0000006	Autosomal dominant inheritance
4858	NOVA2	HP:0001488	Bilateral ptosis
4858	NOVA2	HP:0002714	Downturned corners of mouth
4858	NOVA2	HP:0002002	Deep philtrum
4858	NOVA2	HP:0002079	Hypoplasia of the corpus callosum
4858	NOVA2	HP:0002120	Cerebral cortical atrophy
4858	NOVA2	HP:0011968	Feeding difficulties
4858	NOVA2	HP:0007099	Chiari type I malformation
4858	NOVA2	HP:0100023	Recurrent hand flapping
4858	NOVA2	HP:0000750	Delayed speech and language development
4858	NOVA2	HP:0000748	Inappropriate laughter
4858	NOVA2	HP:0000729	Autistic behavior
4858	NOVA2	HP:0000248	Brachycephaly
4858	NOVA2	HP:0000494	Downslanted palpebral fissures
4858	NOVA2	HP:0000490	Deeply set eye
4858	NOVA2	HP:0000463	Anteverted nares
4860	PNP	HP:0001297	Stroke
4860	PNP	HP:0001290	Generalized hypotonia
4860	PNP	HP:0001276	Hypertonia
4860	PNP	HP:0001270	Motor delay
4860	PNP	HP:0001252	Hypotonia
4860	PNP	HP:0001251	Ataxia
4860	PNP	HP:0001249	Intellectual disability
4860	PNP	HP:0001264	Spastic diplegia
4860	PNP	HP:0001263	Global developmental delay
4860	PNP	HP:0001257	Spasticity
4860	PNP	HP:0002664	Neoplasm
4860	PNP	HP:0000010	Recurrent urinary tract infections
4860	PNP	HP:0000007	Autosomal recessive inheritance
4860	PNP	HP:0002665	Lymphoma
4860	PNP	HP:0001337	Tremor
4860	PNP	HP:0002783	Recurrent lower respiratory tract infections
4860	PNP	HP:0002788	Recurrent upper respiratory tract infections
4860	PNP	HP:0002732	Lymph node hypoplasia
4860	PNP	HP:0002719	Recurrent infections
4860	PNP	HP:0002718	Recurrent bacterial infections
4860	PNP	HP:0002725	Systemic lupus erythematosus
4860	PNP	HP:0002090	Pneumonia
4860	PNP	HP:0011935	Decreased urinary urate
4860	PNP	HP:0002194	Delayed gross motor development
4860	PNP	HP:0003593	Infantile onset
4860	PNP	HP:0002273	Tetraparesis
4860	PNP	HP:0002205	Recurrent respiratory infections
4860	PNP	HP:0003537	Hypouricemia
4860	PNP	HP:0033339	Increased circulating inosine concentration
4860	PNP	HP:0033340	Increased circulating guanosine concentration
4860	PNP	HP:0002313	Spastic paraparesis
4860	PNP	HP:0032166	Unusual gastrointestinal infection
4860	PNP	HP:0001973	Autoimmune thrombocytopenia
4860	PNP	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
4860	PNP	HP:0000752	Hyperactivity
4860	PNP	HP:0100021	Cerebral palsy
4860	PNP	HP:0000708	Atypical behavior
4860	PNP	HP:0000707	Abnormality of the nervous system
4860	PNP	HP:0011442	Abnormal central motor function
4860	PNP	HP:0004430	Severe combined immunodeficiency
4860	PNP	HP:0004429	Recurrent viral infections
4860	PNP	HP:0045080	Decreased proportion of CD3-positive T cells
4860	PNP	HP:0000246	Sinusitis
4860	PNP	HP:0001508	Failure to thrive
4860	PNP	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
4860	PNP	HP:0002843	Abnormal T cell morphology
4860	PNP	HP:0000388	Otitis media
4860	PNP	HP:0002960	Autoimmunity
4860	PNP	HP:0005372	Abnormality of B cell physiology
4860	PNP	HP:0005363	Humoral immunodeficiency
4860	PNP	HP:0005318	Cerebral vasculitis
4860	PNP	HP:0000407	Sensorineural hearing impairment
4860	PNP	HP:0012410	Pure red cell aplasia
4860	PNP	HP:0001744	Splenomegaly
4860	PNP	HP:0005435	Impaired T cell function
4860	PNP	HP:0005390	Recurrent opportunistic infections
4860	PNP	HP:0001890	Autoimmune hemolytic anemia
4860	PNP	HP:0001888	Lymphopenia
4864	NPC1	HP:0001290	Generalized hypotonia
4864	NPC1	HP:0001250	Seizure
4864	NPC1	HP:0001252	Hypotonia
4864	NPC1	HP:0001251	Ataxia
4864	NPC1	HP:0001249	Intellectual disability
4864	NPC1	HP:0001260	Dysarthria
4864	NPC1	HP:0001263	Global developmental delay
4864	NPC1	HP:0001257	Spasticity
4864	NPC1	HP:0002529	Neuronal loss in central nervous system
4864	NPC1	HP:0002524	Cataplexy
4864	NPC1	HP:0001332	Dystonia
4864	NPC1	HP:0000007	Autosomal recessive inheritance
4864	NPC1	HP:0003349	Low cholesterol esterification rate
4864	NPC1	HP:0002015	Dysphagia
4864	NPC1	HP:0002066	Gait ataxia
4864	NPC1	HP:0002185	Neurofibrillary tangles
4864	NPC1	HP:0002240	Hepatomegaly
4864	NPC1	HP:0002371	Loss of speech
4864	NPC1	HP:0003651	Foam cells
4864	NPC1	HP:0003640	CNS foam cells
4864	NPC1	HP:0003621	Juvenile onset
4864	NPC1	HP:0001982	Sea-blue histiocytosis
4864	NPC1	HP:0004333	Bone-marrow foam cells
4864	NPC1	HP:0000726	Dementia
4864	NPC1	HP:0000709	Psychosis
4864	NPC1	HP:0011462	Young adult onset
4864	NPC1	HP:0006583	Fatal liver failure in infancy
4864	NPC1	HP:0006579	Prolonged neonatal jaundice
4864	NPC1	HP:0001791	Fetal ascites
4864	NPC1	HP:0001744	Splenomegaly
4864	NPC1	HP:0000511	Vertical supranuclear gaze palsy
4867	NPHP1	HP:0001162	Postaxial hand polydactyly
4867	NPHP1	HP:0001161	Hand polydactyly
4867	NPHP1	HP:0100957	Abnormal renal medulla morphology
4867	NPHP1	HP:0003774	Stage 5 chronic kidney disease
4867	NPHP1	HP:0002419	Molar tooth sign on MRI
4867	NPHP1	HP:0002404	Thickened superior cerebellar peduncle
4867	NPHP1	HP:0001290	Generalized hypotonia
4867	NPHP1	HP:0001274	Agenesis of corpus callosum
4867	NPHP1	HP:0001288	Gait disturbance
4867	NPHP1	HP:0001250	Seizure
4867	NPHP1	HP:0001252	Hypotonia
4867	NPHP1	HP:0001251	Ataxia
4867	NPHP1	HP:0001249	Intellectual disability
4867	NPHP1	HP:0001263	Global developmental delay
4867	NPHP1	HP:0006101	Finger syndactyly
4867	NPHP1	HP:0008736	Hypoplasia of penis
4867	NPHP1	HP:0008724	Hypoplasia of the ovary
4867	NPHP1	HP:0002553	Highly arched eyebrow
4867	NPHP1	HP:0000083	Renal insufficiency
4867	NPHP1	HP:0000090	Nephronophthisis
4867	NPHP1	HP:0000092	Renal tubular atrophy
4867	NPHP1	HP:0001395	Hepatic fibrosis
4867	NPHP1	HP:0000028	Cryptorchidism
4867	NPHP1	HP:0000007	Autosomal recessive inheritance
4867	NPHP1	HP:0000003	Multicystic kidney dysplasia
4867	NPHP1	HP:0001337	Tremor
4867	NPHP1	HP:0001320	Cerebellar vermis hypoplasia
4867	NPHP1	HP:0002650	Scoliosis
4867	NPHP1	HP:0002612	Congenital hepatic fibrosis
4867	NPHP1	HP:0000175	Cleft palate
4867	NPHP1	HP:0000135	Hypogonadism
4867	NPHP1	HP:0002793	Abnormal pattern of respiration
4867	NPHP1	HP:0000100	Nephrotic syndrome
4867	NPHP1	HP:0000112	Nephropathy
4867	NPHP1	HP:0000108	Renal corticomedullary cysts
4867	NPHP1	HP:0000103	Polyuria
4867	NPHP1	HP:0002084	Encephalocele
4867	NPHP1	HP:0002126	Polymicrogyria
4867	NPHP1	HP:0002104	Apnea
4867	NPHP1	HP:0011933	Elongated superior cerebellar peduncle
4867	NPHP1	HP:0002194	Delayed gross motor development
4867	NPHP1	HP:0002167	Abnormality of speech or vocalization
4867	NPHP1	HP:0002172	Postural instability
4867	NPHP1	HP:0008209	Premature ovarian insufficiency
4867	NPHP1	HP:0004727	Impaired renal concentrating ability
4867	NPHP1	HP:0010579	Cone-shaped epiphysis
4867	NPHP1	HP:0003577	Congenital onset
4867	NPHP1	HP:0002251	Aganglionic megacolon
4867	NPHP1	HP:0002230	Generalized hirsutism
4867	NPHP1	HP:0011968	Feeding difficulties
4867	NPHP1	HP:0020132	Thickening of the tubular basement membrane
4867	NPHP1	HP:0010747	Medial flaring of the eyebrow
4867	NPHP1	HP:0003621	Juvenile onset
4867	NPHP1	HP:0005576	Tubulointerstitial fibrosis
4867	NPHP1	HP:0005583	Tubular basement membrane disintegration
4867	NPHP1	HP:0012622	Chronic kidney disease
4867	NPHP1	HP:0000639	Nystagmus
4867	NPHP1	HP:0000612	Iris coloboma
4867	NPHP1	HP:0001959	Polydipsia
4867	NPHP1	HP:0001903	Anemia
4867	NPHP1	HP:0000657	Oculomotor apraxia
4867	NPHP1	HP:0004322	Short stature
4867	NPHP1	HP:0030680	Abnormality of cardiovascular system morphology
4867	NPHP1	HP:0004348	Abnormality of bone mineral density
4867	NPHP1	HP:0011462	Young adult onset
4867	NPHP1	HP:0004422	Biparietal narrowing
4867	NPHP1	HP:0003158	Hyposthenuria
4867	NPHP1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
4867	NPHP1	HP:0000822	Hypertension
4867	NPHP1	HP:0003202	Skeletal muscle atrophy
4867	NPHP1	HP:0003259	Elevated circulating creatinine concentration
4867	NPHP1	HP:0007703	Abnormality of retinal pigmentation
4867	NPHP1	HP:0000276	Long face
4867	NPHP1	HP:0000238	Hydrocephalus
4867	NPHP1	HP:0000202	Orofacial cleft
4867	NPHP1	HP:0001510	Growth delay
4867	NPHP1	HP:0001513	Obesity
4867	NPHP1	HP:0000365	Hearing impairment
4867	NPHP1	HP:0000368	Low-set, posteriorly rotated ears
4867	NPHP1	HP:0000486	Strabismus
4867	NPHP1	HP:0000494	Downslanted palpebral fissures
4867	NPHP1	HP:0000463	Anteverted nares
4867	NPHP1	HP:0000470	Short neck
4867	NPHP1	HP:0000426	Prominent nasal bridge
4867	NPHP1	HP:0000518	Cataract
4867	NPHP1	HP:0000512	Abnormal electroretinogram
4867	NPHP1	HP:0000529	Progressive visual loss
4867	NPHP1	HP:0000508	Ptosis
4867	NPHP1	HP:0000505	Visual impairment
4867	NPHP1	HP:0000580	Pigmentary retinopathy
4867	NPHP1	HP:0000556	Retinal dystrophy
4867	NPHP1	HP:0000571	Hypometric saccades
4868	NPHS1	HP:0003774	Stage 5 chronic kidney disease
4868	NPHS1	HP:0002586	Peritonitis
4868	NPHS1	HP:0008677	Congenital nephrotic syndrome
4868	NPHS1	HP:0000083	Renal insufficiency
4868	NPHS1	HP:0000097	Focal segmental glomerulosclerosis
4868	NPHS1	HP:0000096	Glomerular sclerosis
4868	NPHS1	HP:0000091	Abnormal renal tubule morphology
4868	NPHS1	HP:0000093	Proteinuria
4868	NPHS1	HP:0000092	Renal tubular atrophy
4868	NPHS1	HP:0000007	Autosomal recessive inheritance
4868	NPHS1	HP:0002643	Neonatal respiratory distress
4868	NPHS1	HP:0000100	Nephrotic syndrome
4868	NPHS1	HP:0002719	Recurrent infections
4868	NPHS1	HP:0002021	Pyloric stenosis
4868	NPHS1	HP:0002020	Gastroesophageal reflux
4868	NPHS1	HP:0002027	Abdominal pain
4868	NPHS1	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
4868	NPHS1	HP:0100539	Periorbital edema
4868	NPHS1	HP:0003577	Congenital onset
4868	NPHS1	HP:0011947	Respiratory tract infection
4868	NPHS1	HP:0003678	Rapidly progressive
4868	NPHS1	HP:0002315	Headache
4868	NPHS1	HP:0012622	Chronic kidney disease
4868	NPHS1	HP:0001967	Diffuse mesangial sclerosis
4868	NPHS1	HP:0001945	Fever
4868	NPHS1	HP:0000696	Delayed eruption of permanent teeth
4868	NPHS1	HP:0003077	Hyperlipidemia
4868	NPHS1	HP:0003075	Hypoproteinemia
4868	NPHS1	HP:0003073	Hypoalbuminemia
4868	NPHS1	HP:0000737	Irritability
4868	NPHS1	HP:0000707	Abnormality of the nervous system
4868	NPHS1	HP:0000821	Hypothyroidism
4868	NPHS1	HP:0003270	Abdominal distention
4868	NPHS1	HP:0000969	Edema
4868	NPHS1	HP:0001518	Small for gestational age
4868	NPHS1	HP:0001510	Growth delay
4868	NPHS1	HP:0031504	Foamy urine
4868	NPHS1	HP:0012579	Minimal change glomerulonephritis
4869	NPM1	HP:0010885	Avascular necrosis
4869	NPM1	HP:0001263	Global developmental delay
4869	NPM1	HP:0001231	Abnormal fingernail morphology
4869	NPM1	HP:0002575	Tracheoesophageal fistula
4869	NPM1	HP:0031035	Chronic infection
4869	NPM1	HP:0008661	Urethral stenosis
4869	NPM1	HP:0002514	Cerebral calcification
4869	NPM1	HP:0031020	Bone marrow hypercellularity
4869	NPM1	HP:0001399	Hepatic failure
4869	NPM1	HP:0001394	Cirrhosis
4869	NPM1	HP:0000035	Abnormal testis morphology
4869	NPM1	HP:0002664	Neoplasm
4869	NPM1	HP:0001324	Muscle weakness
4869	NPM1	HP:0000008	Abnormal morphology of female internal genitalia
4869	NPM1	HP:0002665	Lymphoma
4869	NPM1	HP:0000006	Autosomal dominant inheritance
4869	NPM1	HP:0002653	Bone pain
4869	NPM1	HP:0002650	Scoliosis
4869	NPM1	HP:0000164	Abnormality of the dentition
4869	NPM1	HP:0025420	Diffuse alveolar hemorrhage
4869	NPM1	HP:0002757	Recurrent fractures
4869	NPM1	HP:0001428	Somatic mutation
4869	NPM1	HP:0002745	Oral leukoplakia
4869	NPM1	HP:0031245	Productive cough
4869	NPM1	HP:0002716	Lymphadenopathy
4869	NPM1	HP:0002024	Malabsorption
4869	NPM1	HP:0002027	Abdominal pain
4869	NPM1	HP:0030955	Alcoholism
4869	NPM1	HP:0002039	Anorexia
4869	NPM1	HP:0010450	Esophageal stenosis
4869	NPM1	HP:0100585	Telangiectasia of the skin
4869	NPM1	HP:0011900	Hypofibrinogenemia
4869	NPM1	HP:0002240	Hepatomegaly
4869	NPM1	HP:0002216	Premature graying of hair
4869	NPM1	HP:0002205	Recurrent respiratory infections
4869	NPM1	HP:0008404	Nail dystrophy
4869	NPM1	HP:0100758	Gangrene
4869	NPM1	HP:0010624	Aplastic/hypoplastic toenail
4869	NPM1	HP:0004808	Acute myeloid leukemia
4869	NPM1	HP:0001053	Hypopigmented skin patches
4869	NPM1	HP:0001034	Hypermelanotic macule
4869	NPM1	HP:0002321	Vertigo
4869	NPM1	HP:0200037	Skin vesicle
4869	NPM1	HP:0100670	Coarse metaphyseal trabecularization
4869	NPM1	HP:0100608	Metrorrhagia
4869	NPM1	HP:0100627	Displacement of the urethral meatus
4869	NPM1	HP:0200042	Skin ulcer
4869	NPM1	HP:0005528	Bone marrow hypocellularity
4869	NPM1	HP:0005521	Disseminated intravascular coagulation
4869	NPM1	HP:0001974	Leukocytosis
4869	NPM1	HP:0001945	Fever
4869	NPM1	HP:0001928	Abnormality of coagulation
4869	NPM1	HP:0000600	Abnormality of the pharynx
4869	NPM1	HP:0001903	Anemia
4869	NPM1	HP:0011364	White hair
4869	NPM1	HP:0000679	Taurodontia
4869	NPM1	HP:0000670	Carious teeth
4869	NPM1	HP:0000668	Hypodontia
4869	NPM1	HP:0004322	Short stature
4869	NPM1	HP:0012732	Anorectal anomaly
4869	NPM1	HP:0012733	Macule
4869	NPM1	HP:0000704	Periodontitis
4869	NPM1	HP:0000790	Hematuria
4869	NPM1	HP:0000819	Diabetes mellitus
4869	NPM1	HP:0010280	Stomatitis
4869	NPM1	HP:0000979	Purpura
4869	NPM1	HP:0000975	Hyperhidrosis
4869	NPM1	HP:0000978	Bruising susceptibility
4869	NPM1	HP:0000982	Palmoplantar keratoderma
4869	NPM1	HP:0000967	Petechiae
4869	NPM1	HP:0000939	Osteoporosis
4869	NPM1	HP:0008070	Sparse hair
4869	NPM1	HP:0008065	Aplasia/Hypoplasia of the skin
4869	NPM1	HP:0008066	Abnormal blistering of the skin
4869	NPM1	HP:0001596	Alopecia
4869	NPM1	HP:0000212	Gingival overgrowth
4869	NPM1	HP:0002875	Exertional dyspnea
4869	NPM1	HP:0002894	Neoplasm of the pancreas
4869	NPM1	HP:0000225	Gingival bleeding
4869	NPM1	HP:0031364	Ecchymosis
4869	NPM1	HP:0001511	Intrauterine growth retardation
4869	NPM1	HP:0012378	Fatigue
4869	NPM1	HP:0000365	Hearing impairment
4869	NPM1	HP:0030140	Oral cavity bleeding
4869	NPM1	HP:0000327	Hypoplasia of the maxilla
4869	NPM1	HP:0000499	Abnormal eyelash morphology
4869	NPM1	HP:0000498	Blepharitis
4869	NPM1	HP:0005374	Cellular immunodeficiency
4869	NPM1	HP:0001744	Splenomegaly
4869	NPM1	HP:0000421	Epistaxis
4869	NPM1	HP:0000518	Cataract
4869	NPM1	HP:0001824	Weight loss
4869	NPM1	HP:0001892	Abnormal bleeding
4869	NPM1	HP:0000534	Abnormal eyebrow morphology
4869	NPM1	HP:0001882	Leukopenia
4869	NPM1	HP:0001874	Abnormality of neutrophils
4869	NPM1	HP:0001873	Thrombocytopenia
4869	NPM1	HP:0001876	Pancytopenia
4869	NPM1	HP:0001875	Neutropenia
4878	NPPA	HP:0410174	Increased circulating troponin T concentration
4878	NPPA	HP:0001297	Stroke
4878	NPPA	HP:0001279	Syncope
4878	NPPA	HP:0001260	Dysarthria
4878	NPPA	HP:0001371	Flexion contracture
4878	NPPA	HP:0000007	Autosomal recessive inheritance
4878	NPPA	HP:0000006	Autosomal dominant inheritance
4878	NPPA	HP:0002617	Vascular dilatation
4878	NPPA	HP:0025478	Atrial standstill
4878	NPPA	HP:0031295	Left atrial enlargement
4878	NPPA	HP:0030973	Postexertional symptom exacerbation
4878	NPPA	HP:0002018	Nausea
4878	NPPA	HP:0002094	Dyspnea
4878	NPPA	HP:0033122	Absent P wave
4878	NPPA	HP:0011712	Right bundle branch block
4878	NPPA	HP:0011704	Sick sinus syndrome
4878	NPPA	HP:0011707	Mobitz I atrioventricular block
4878	NPPA	HP:0002140	Ischemic stroke
4878	NPPA	HP:0004756	Ventricular tachycardia
4878	NPPA	HP:0003596	Middle age onset
4878	NPPA	HP:0003560	Muscular dystrophy
4878	NPPA	HP:0200127	Atrial cardiomyopathy
4878	NPPA	HP:0002381	Aphasia
4878	NPPA	HP:0002321	Vertigo
4878	NPPA	HP:0002315	Headache
4878	NPPA	HP:0100699	Scarring
4878	NPPA	HP:0002301	Hemiplegia
4878	NPPA	HP:0001962	Palpitations
4878	NPPA	HP:0001907	Thromboembolism
4878	NPPA	HP:0012664	Reduced left ventricular ejection fraction
4878	NPPA	HP:0030682	Left ventricular noncompaction
4878	NPPA	HP:0011462	Young adult onset
4878	NPPA	HP:0003238	Hyperpepsinogenemia I
4878	NPPA	HP:0003202	Skeletal muscle atrophy
4878	NPPA	HP:0034307	Elevated left ventricular end-diastolic diameter
4878	NPPA	HP:0011675	Arrhythmia
4878	NPPA	HP:0005110	Atrial fibrillation
4878	NPPA	HP:0012378	Fatigue
4878	NPPA	HP:0005155	Ventricular escape rhythm
4878	NPPA	HP:0001692	Atrial arrhythmia
4878	NPPA	HP:0001662	Bradycardia
4878	NPPA	HP:0001627	Abnormal heart morphology
4878	NPPA	HP:0001635	Congestive heart failure
4878	NPPA	HP:0001638	Cardiomyopathy
4878	NPPA	HP:0006698	Dilatation of the ventricular cavity
4878	NPPA	HP:0001712	Left ventricular hypertrophy
4878	NPPA	HP:0031546	Cardiac conduction abnormality
4878	NPPA	HP:0031595	Abnormal P wave
4882	NPR2	HP:0001156	Brachydactyly
4882	NPR2	HP:0001166	Arachnodactyly
4882	NPR2	HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level
4882	NPR2	HP:0001249	Intellectual disability
4882	NPR2	HP:0001230	Broad metacarpals
4882	NPR2	HP:0006009	Broad phalanx
4882	NPR2	HP:0000098	Tall stature
4882	NPR2	HP:0001377	Limited elbow extension
4882	NPR2	HP:0001388	Joint laxity
4882	NPR2	HP:0001387	Joint stiffness
4882	NPR2	HP:0007516	Redundant skin on fingers
4882	NPR2	HP:0002656	Epiphyseal dysplasia
4882	NPR2	HP:0000007	Autosomal recessive inheritance
4882	NPR2	HP:0000006	Autosomal dominant inheritance
4882	NPR2	HP:0002650	Scoliosis
4882	NPR2	HP:0002750	Delayed skeletal maturation
4882	NPR2	HP:0002007	Frontal bossing
4882	NPR2	HP:0003312	Abnormal form of the vertebral bodies
4882	NPR2	HP:0003307	Hyperlordosis
4882	NPR2	HP:0004633	Lower thoracic kyphosis
4882	NPR2	HP:0003300	Ovoid vertebral bodies
4882	NPR2	HP:0003498	Disproportionate short stature
4882	NPR2	HP:0003577	Congenital onset
4882	NPR2	HP:0010639	Elevated alkaline phosphatase of bone origin
4882	NPR2	HP:0003508	Proportionate short stature
4882	NPR2	HP:0009803	Short phalanx of finger
4882	NPR2	HP:0008484	Thoracolumbar interpediculate narrowness
4882	NPR2	HP:0010743	Short metatarsal
4882	NPR2	HP:0008422	Vertebral wedging
4882	NPR2	HP:0010049	Short metacarpal
4882	NPR2	HP:0010055	Broad hallux
4882	NPR2	HP:0005619	Thoracolumbar kyphosis
4882	NPR2	HP:0003086	Acromesomelia
4882	NPR2	HP:0005692	Joint hyperflexibility
4882	NPR2	HP:0003015	Flared metaphysis
4882	NPR2	HP:0005769	Fifth finger distal phalanx clinodactyly
4882	NPR2	HP:0003196	Short nose
4882	NPR2	HP:0000912	Sprengel anomaly
4882	NPR2	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
4882	NPR2	HP:0004568	Beaking of vertebral bodies
4882	NPR2	HP:0000938	Osteopenia
4882	NPR2	HP:0000268	Dolichocephaly
4882	NPR2	HP:0002808	Kyphosis
4882	NPR2	HP:0000240	Abnormality of skull size
4882	NPR2	HP:0001500	Broad finger
4882	NPR2	HP:0002938	Lumbar hyperlordosis
4882	NPR2	HP:0006487	Bowing of the long bones
4882	NPR2	HP:0031424	Abnormal circulating beta-C-terminal telopeptide concentration
4882	NPR2	HP:0002986	Radial bowing
4882	NPR2	HP:0002984	Hypoplasia of the radius
4882	NPR2	HP:0005280	Depressed nasal bridge
4882	NPR2	HP:0001799	Short nail
4882	NPR2	HP:0001783	Broad metatarsal
4882	NPR2	HP:0001847	Long hallux
4882	NPR2	HP:0001831	Short toe
4882	NPR2	HP:0011220	Prominent forehead
4883	NPR3	HP:0001166	Arachnodactyly
4883	NPR3	HP:0100807	Long fingers
4883	NPR3	HP:0000098	Tall stature
4883	NPR3	HP:0001388	Joint laxity
4883	NPR3	HP:0000007	Autosomal recessive inheritance
4883	NPR3	HP:0002616	Aortic root aneurysm
4883	NPR3	HP:0032524	Long thumb
4883	NPR3	HP:0010511	Long toe
4883	NPR3	HP:0010639	Elevated alkaline phosphatase of bone origin
4883	NPR3	HP:0002355	Difficulty walking
4883	NPR3	HP:0010022	Pseudoepiphysis of the 1st metacarpal
4883	NPR3	HP:0000767	Pectus excavatum
4883	NPR3	HP:0030771	Mallet finger
4883	NPR3	HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand
4883	NPR3	HP:0010264	Pseudoepiphyses of the middle phalanges of the hand
4883	NPR3	HP:0000272	Malar flattening
4883	NPR3	HP:0030084	Clinodactyly
4883	NPR3	HP:0001634	Mitral valve prolapse
4883	NPR3	HP:0001763	Pes planus
4883	NPR3	HP:0001847	Long hallux
4883	NPR3	HP:0000545	Myopia
4884	NPTX1	HP:0001272	Cerebellar atrophy
4884	NPTX1	HP:0001251	Ataxia
4884	NPTX1	HP:0000006	Autosomal dominant inheritance
4884	NPTX1	HP:0001336	Myoclonus
4884	NPTX1	HP:0002072	Chorea
4884	NPTX1	HP:0002186	Apraxia
4884	NPTX1	HP:0002174	Postural tremor
4884	NPTX1	HP:0003596	Middle age onset
4884	NPTX1	HP:0003584	Late onset
4884	NPTX1	HP:0002345	Action tremor
4884	NPTX1	HP:0002354	Memory impairment
4884	NPTX1	HP:0002346	Head tremor
4884	NPTX1	HP:0032121	Froment sign
4884	NPTX1	HP:0006855	Cerebellar vermis atrophy
4884	NPTX1	HP:0000639	Nystagmus
4884	NPTX1	HP:0000651	Diplopia
4884	NPTX1	HP:0011462	Young adult onset
4884	NPTX1	HP:0033051	Impaired executive functioning
4884	NPTX1	HP:0000365	Hearing impairment
4884	NPTX1	HP:0000508	Ptosis
4891	SLC11A2	HP:0032231	Hypochromia
4891	SLC11A2	HP:0000007	Autosomal recessive inheritance
4891	SLC11A2	HP:0012132	Erythroid hyperplasia
4891	SLC11A2	HP:0003452	Increased serum iron
4891	SLC11A2	HP:0003593	Infantile onset
4891	SLC11A2	HP:0025066	Decreased mean corpuscular volume
4891	SLC11A2	HP:0001903	Anemia
4891	SLC11A2	HP:0012465	Elevated hepatic iron concentration
4893	NRAS	HP:0001156	Brachydactyly
4893	NRAS	HP:0001167	Abnormal finger morphology
4893	NRAS	HP:0001195	Single umbilical artery
4893	NRAS	HP:0003745	Sporadic
4893	NRAS	HP:0003764	Nevus
4893	NRAS	HP:0001290	Generalized hypotonia
4893	NRAS	HP:0001270	Motor delay
4893	NRAS	HP:0100827	Lymphocytosis
4893	NRAS	HP:0001268	Mental deterioration
4893	NRAS	HP:0001250	Seizure
4893	NRAS	HP:0001252	Hypotonia
4893	NRAS	HP:0001249	Intellectual disability
4893	NRAS	HP:0001260	Dysarthria
4893	NRAS	HP:0001263	Global developmental delay
4893	NRAS	HP:0007400	Irregular hyperpigmentation
4893	NRAS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
4893	NRAS	HP:0007360	Aplasia/Hypoplasia of the cerebellum
4893	NRAS	HP:0002514	Cerebral calcification
4893	NRAS	HP:0000085	Horseshoe kidney
4893	NRAS	HP:0012056	Cutaneous melanoma
4893	NRAS	HP:0000078	Abnormality of the genital system
4893	NRAS	HP:0000044	Hypogonadotropic hypogonadism
4893	NRAS	HP:0001347	Hyperreflexia
4893	NRAS	HP:0001357	Plagiocephaly
4893	NRAS	HP:0000028	Cryptorchidism
4893	NRAS	HP:0008872	Feeding difficulties in infancy
4893	NRAS	HP:0007477	Abnormal dermatoglyphics
4893	NRAS	HP:0002664	Neoplasm
4893	NRAS	HP:0001324	Muscle weakness
4893	NRAS	HP:0002671	Basal cell carcinoma
4893	NRAS	HP:0002665	Lymphoma
4893	NRAS	HP:0000006	Autosomal dominant inheritance
4893	NRAS	HP:0001305	Dandy-Walker malformation
4893	NRAS	HP:0002650	Scoliosis
4893	NRAS	HP:0001315	Reduced tendon reflexes
4893	NRAS	HP:0000179	Thick lower lip vermilion
4893	NRAS	HP:0000194	Open mouth
4893	NRAS	HP:0001488	Bilateral ptosis
4893	NRAS	HP:0001482	Subcutaneous nodule
4893	NRAS	HP:0002757	Recurrent fractures
4893	NRAS	HP:0001428	Somatic mutation
4893	NRAS	HP:0001442	Somatic mosaicism
4893	NRAS	HP:0002731	Decreased lymphocyte apoptosis
4893	NRAS	HP:0002751	Kyphoscoliosis
4893	NRAS	HP:0002750	Delayed skeletal maturation
4893	NRAS	HP:0002719	Recurrent infections
4893	NRAS	HP:0002729	Follicular hyperplasia
4893	NRAS	HP:0002002	Deep philtrum
4893	NRAS	HP:0002007	Frontal bossing
4893	NRAS	HP:0011800	Midface retrusion
4893	NRAS	HP:0100555	Asymmetric growth
4893	NRAS	HP:0003396	Syringomyelia
4893	NRAS	HP:0002119	Ventriculomegaly
4893	NRAS	HP:0002132	Porencephalic cyst
4893	NRAS	HP:0003422	Vertebral segmentation defect
4893	NRAS	HP:0002167	Abnormality of speech or vocalization
4893	NRAS	HP:0002162	Low posterior hairline
4893	NRAS	HP:0011869	Abnormal platelet function
4893	NRAS	HP:0003577	Congenital onset
4893	NRAS	HP:0002240	Hepatomegaly
4893	NRAS	HP:0100702	Arachnoid cyst
4893	NRAS	HP:0002230	Generalized hirsutism
4893	NRAS	HP:0002212	Curly hair
4893	NRAS	HP:0002208	Coarse hair
4893	NRAS	HP:0002205	Recurrent respiratory infections
4893	NRAS	HP:0100763	Abnormality of the lymphatic system
4893	NRAS	HP:0010702	Increased circulating antibody level
4893	NRAS	HP:0009720	Adenoma sebaceum
4893	NRAS	HP:0011968	Feeding difficulties
4893	NRAS	HP:0001054	Numerous nevi
4893	NRAS	HP:0001053	Hypopigmented skin patches
4893	NRAS	HP:0001048	Cavernous hemangioma
4893	NRAS	HP:0001028	Hemangioma
4893	NRAS	HP:0001010	Hypopigmentation of the skin
4893	NRAS	HP:0001004	Lymphedema
4893	NRAS	HP:0002353	EEG abnormality
4893	NRAS	HP:0001000	Abnormality of skin pigmentation
4893	NRAS	HP:0001003	Multiple lentigines
4893	NRAS	HP:0200022	Choroid plexus papilloma
4893	NRAS	HP:0007206	Hemimegalencephaly
4893	NRAS	HP:0010815	Nevus sebaceous
4893	NRAS	HP:0010817	Linear nevus sebaceous
4893	NRAS	HP:0100625	Enlarged thorax
4893	NRAS	HP:0032152	Keratosis pilaris
4893	NRAS	HP:0010759	Prominence of the premaxilla
4893	NRAS	HP:0004912	Hypophosphatemic rickets
4893	NRAS	HP:0004209	Clinodactyly of the 5th finger
4893	NRAS	HP:0005523	Lymphoproliferative disorder
4893	NRAS	HP:0006824	Cranial nerve paralysis
4893	NRAS	HP:0005584	Renal cell carcinoma
4893	NRAS	HP:0006889	Intellectual disability, borderline
4893	NRAS	HP:0000639	Nystagmus
4893	NRAS	HP:0001973	Autoimmune thrombocytopenia
4893	NRAS	HP:0000612	Iris coloboma
4893	NRAS	HP:0000629	Periorbital fullness
4893	NRAS	HP:0001928	Abnormality of coagulation
4893	NRAS	HP:0000602	Ophthalmoplegia
4893	NRAS	HP:0001909	Leukemia
4893	NRAS	HP:0011381	Aplasia of the semicircular canal
4893	NRAS	HP:0011362	Abnormal hair quantity
4893	NRAS	HP:0004322	Short stature
4893	NRAS	HP:0005603	Numerous congenital melanocytic nevi
4893	NRAS	HP:0030680	Abnormality of cardiovascular system morphology
4893	NRAS	HP:0005600	Congenital giant melanocytic nevus
4893	NRAS	HP:0005692	Joint hyperflexibility
4893	NRAS	HP:0000767	Pectus excavatum
4893	NRAS	HP:0000766	Abnormal sternum morphology
4893	NRAS	HP:0000768	Pectus carinatum
4893	NRAS	HP:0000750	Delayed speech and language development
4893	NRAS	HP:0003109	Hyperphosphaturia
4893	NRAS	HP:0004422	Biparietal narrowing
4893	NRAS	HP:0004415	Pulmonary artery stenosis
4893	NRAS	HP:0003196	Short nose
4893	NRAS	HP:0000826	Precocious puberty
4893	NRAS	HP:0004523	Long eyebrows
4893	NRAS	HP:0000995	Melanocytic nevus
4893	NRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
4893	NRAS	HP:0000989	Pruritus
4893	NRAS	HP:0000957	Cafe-au-lait spot
4893	NRAS	HP:0000969	Edema
4893	NRAS	HP:0000938	Osteopenia
4893	NRAS	HP:0100242	Sarcoma
4893	NRAS	HP:0008070	Sparse hair
4893	NRAS	HP:0008064	Ichthyosis
4893	NRAS	HP:0008069	Neoplasm of the skin
4893	NRAS	HP:0011675	Arrhythmia
4893	NRAS	HP:0040198	Non-medullary thyroid carcinoma
4893	NRAS	HP:0000286	Epicanthus
4893	NRAS	HP:0000293	Full cheeks
4893	NRAS	HP:0001596	Alopecia
4893	NRAS	HP:0000256	Macrocephaly
4893	NRAS	HP:0000267	Cranial asymmetry
4893	NRAS	HP:0000269	Prominent occiput
4893	NRAS	HP:0002816	Genu recurvatum
4893	NRAS	HP:0000238	Hydrocephalus
4893	NRAS	HP:0012209	Juvenile myelomonocytic leukemia
4893	NRAS	HP:0001548	Overgrowth
4893	NRAS	HP:0000218	High palate
4893	NRAS	HP:0002895	Papillary thyroid carcinoma
4893	NRAS	HP:0001561	Polyhydramnios
4893	NRAS	HP:0000232	Everted lower lip vermilion
4893	NRAS	HP:0025510	Nevus spilus
4893	NRAS	HP:0002891	Uterine leiomyosarcoma
4893	NRAS	HP:0002861	Melanoma
4893	NRAS	HP:0002858	Meningioma
4893	NRAS	HP:0002859	Rhabdomyosarcoma
4893	NRAS	HP:0001528	Hemihypertrophy
4893	NRAS	HP:0001522	Death in infancy
4893	NRAS	HP:0001510	Growth delay
4893	NRAS	HP:0011073	Abnormality of dental color
4893	NRAS	HP:0000391	Thickened helices
4893	NRAS	HP:0006482	Abnormality of dental morphology
4893	NRAS	HP:0000369	Low-set ears
4893	NRAS	HP:0000368	Low-set, posteriorly rotated ears
4893	NRAS	HP:0000343	Long philtrum
4893	NRAS	HP:0000337	Broad forehead
4893	NRAS	HP:0001680	Coarctation of aorta
4893	NRAS	HP:0000348	High forehead
4893	NRAS	HP:0000347	Micrognathia
4893	NRAS	HP:0012311	Monocytosis
4893	NRAS	HP:0000316	Hypertelorism
4893	NRAS	HP:0000311	Round face
4893	NRAS	HP:0001642	Pulmonic stenosis
4893	NRAS	HP:0002974	Radioulnar synostosis
4893	NRAS	HP:0000325	Triangular face
4893	NRAS	HP:0000324	Facial asymmetry
4893	NRAS	HP:0002960	Autoimmunity
4893	NRAS	HP:0001641	Abnormal pulmonary valve morphology
4893	NRAS	HP:0001639	Hypertrophic cardiomyopathy
4893	NRAS	HP:0007957	Corneal opacity
4893	NRAS	HP:0006610	Wide intermamillary distance
4893	NRAS	HP:0000407	Sensorineural hearing impairment
4893	NRAS	HP:0005280	Depressed nasal bridge
4893	NRAS	HP:0000486	Strabismus
4893	NRAS	HP:0000476	Cystic hygroma
4893	NRAS	HP:0000478	Abnormality of the eye
4893	NRAS	HP:0000494	Downslanted palpebral fissures
4893	NRAS	HP:0000463	Anteverted nares
4893	NRAS	HP:0000455	Broad nasal tip
4893	NRAS	HP:0000474	Thickened nuchal skin fold
4893	NRAS	HP:0000470	Short neck
4893	NRAS	HP:0000465	Webbed neck
4893	NRAS	HP:0001780	Abnormal toe morphology
4893	NRAS	HP:0000418	Narrow nasal ridge
4893	NRAS	HP:0001744	Splenomegaly
4893	NRAS	HP:0001743	Abnormality of the spleen
4893	NRAS	HP:0000431	Wide nasal bridge
4893	NRAS	HP:0006753	Neoplasm of the stomach
4893	NRAS	HP:0006740	Transitional cell carcinoma of the bladder
4893	NRAS	HP:0006731	Follicular thyroid carcinoma
4893	NRAS	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
4893	NRAS	HP:0000520	Proptosis
4893	NRAS	HP:0000506	Telecanthus
4893	NRAS	HP:0000508	Ptosis
4893	NRAS	HP:0000504	Abnormality of vision
4893	NRAS	HP:0000589	Coloboma
4893	NRAS	HP:0001892	Abnormal bleeding
4893	NRAS	HP:0011220	Prominent forehead
4893	NRAS	HP:0000568	Microphthalmia
4893	NRAS	HP:0001878	Hemolytic anemia
4893	NRAS	HP:0001876	Pancytopenia
4893	NRAS	HP:0000545	Myopia
4893	NRAS	HP:0001875	Neutropenia
4897	NRCAM	HP:0001270	Motor delay
4897	NRCAM	HP:0001252	Hypotonia
4897	NRCAM	HP:0001251	Ataxia
4897	NRCAM	HP:0001249	Intellectual disability
4897	NRCAM	HP:0001263	Global developmental delay
4897	NRCAM	HP:0033683	Jaw hyperreflexia
4897	NRCAM	HP:0008807	Acetabular dysplasia
4897	NRCAM	HP:0001385	Hip dysplasia
4897	NRCAM	HP:0001357	Plagiocephaly
4897	NRCAM	HP:0033725	Thin corpus callosum
4897	NRCAM	HP:0002673	Coxa valga
4897	NRCAM	HP:0000007	Autosomal recessive inheritance
4897	NRCAM	HP:0002650	Scoliosis
4897	NRCAM	HP:0002020	Gastroesophageal reflux
4897	NRCAM	HP:0002002	Deep philtrum
4897	NRCAM	HP:0002119	Ventriculomegaly
4897	NRCAM	HP:0002188	Delayed CNS myelination
4897	NRCAM	HP:0002263	Exaggerated cupid's bow
4897	NRCAM	HP:0003577	Congenital onset
4897	NRCAM	HP:0100702	Arachnoid cyst
4897	NRCAM	HP:0100716	Self-injurious behavior
4897	NRCAM	HP:0010804	Tented upper lip vermilion
4897	NRCAM	HP:0007165	Periventricular heterotopia
4897	NRCAM	HP:0010747	Medial flaring of the eyebrow
4897	NRCAM	HP:0007108	Demyelinating peripheral neuropathy
4897	NRCAM	HP:0003621	Juvenile onset
4897	NRCAM	HP:0000648	Optic atrophy
4897	NRCAM	HP:0000629	Periorbital fullness
4897	NRCAM	HP:0004322	Short stature
4897	NRCAM	HP:0006970	Periventricular leukomalacia
4897	NRCAM	HP:0005684	Distal arthrogryposis
4897	NRCAM	HP:0100021	Cerebral palsy
4897	NRCAM	HP:0000737	Irritability
4897	NRCAM	HP:0000718	Aggressive behavior
4897	NRCAM	HP:0011471	Gastrostomy tube feeding in infancy
4897	NRCAM	HP:0003196	Short nose
4897	NRCAM	HP:0000280	Coarse facial features
4897	NRCAM	HP:0000276	Long face
4897	NRCAM	HP:0000238	Hydrocephalus
4897	NRCAM	HP:0000252	Microcephaly
4897	NRCAM	HP:0000218	High palate
4897	NRCAM	HP:0001561	Polyhydramnios
4897	NRCAM	HP:0001508	Failure to thrive
4897	NRCAM	HP:0030048	Colpocephaly
4897	NRCAM	HP:0001511	Intrauterine growth retardation
4897	NRCAM	HP:0001601	Laryngomalacia
4897	NRCAM	HP:0000365	Hearing impairment
4897	NRCAM	HP:0000358	Posteriorly rotated ears
4897	NRCAM	HP:0000341	Narrow forehead
4897	NRCAM	HP:0000347	Micrognathia
4897	NRCAM	HP:0000316	Hypertelorism
4897	NRCAM	HP:0000331	Short chin
4897	NRCAM	HP:0005280	Depressed nasal bridge
4897	NRCAM	HP:0000486	Strabismus
4897	NRCAM	HP:0001765	Hammertoe
4897	NRCAM	HP:0001761	Pes cavus
4897	NRCAM	HP:0025708	Early young adult onset
4897	NRCAM	HP:0000518	Cataract
4897	NRCAM	HP:0000527	Long eyelashes
4897	NRCAM	HP:0000582	Upslanted palpebral fissure
4897	NRCAM	HP:0000574	Thick eyebrow
4897	NRCAM	HP:0000541	Retinal detachment
4901	NRL	HP:0001249	Intellectual disability
4901	NRL	HP:0007401	Macular atrophy
4901	NRL	HP:0008736	Hypoplasia of penis
4901	NRL	HP:0001347	Hyperreflexia
4901	NRL	HP:0000035	Abnormal testis morphology
4901	NRL	HP:0000006	Autosomal dominant inheritance
4901	NRL	HP:0000135	Hypogonadism
4901	NRL	HP:0007675	Progressive night blindness
4901	NRL	HP:0005978	Type II diabetes mellitus
4901	NRL	HP:0000639	Nystagmus
4901	NRL	HP:0000648	Optic atrophy
4901	NRL	HP:0000618	Blindness
4901	NRL	HP:0000613	Photophobia
4901	NRL	HP:0000602	Ophthalmoplegia
4901	NRL	HP:0000662	Nyctalopia
4901	NRL	HP:0000842	Hyperinsulinemia
4901	NRL	HP:0040049	Macular edema
4901	NRL	HP:0000980	Pallor
4901	NRL	HP:0000987	Atypical scarring of skin
4901	NRL	HP:0008046	Abnormal retinal vascular morphology
4901	NRL	HP:0007703	Abnormality of retinal pigmentation
4901	NRL	HP:0001513	Obesity
4901	NRL	HP:0007950	Peripapillary chorioretinal atrophy
4901	NRL	HP:0000407	Sensorineural hearing impairment
4901	NRL	HP:0000405	Conductive hearing impairment
4901	NRL	HP:0000463	Anteverted nares
4901	NRL	HP:0000431	Wide nasal bridge
4901	NRL	HP:0000518	Cataract
4901	NRL	HP:0000510	Rod-cone dystrophy
4901	NRL	HP:0000512	Abnormal electroretinogram
4901	NRL	HP:0000505	Visual impairment
4901	NRL	HP:0000501	Glaucoma
4901	NRL	HP:0000563	Keratoconus
4901	NRL	HP:0000533	Chorioretinal atrophy
4901	NRL	HP:0000550	Undetectable electroretinogram
4902	NRTN	HP:0001181	Adducted thumb
4902	NRTN	HP:0100806	Sepsis
4902	NRTN	HP:0001249	Intellectual disability
4902	NRTN	HP:0002019	Constipation
4902	NRTN	HP:0002017	Nausea and vomiting
4902	NRTN	HP:0002027	Abdominal pain
4902	NRTN	HP:0002014	Diarrhea
4902	NRTN	HP:0002251	Aganglionic megacolon
4902	NRTN	HP:0200008	Intestinal polyposis
4902	NRTN	HP:0004322	Short stature
4902	NRTN	HP:0100031	Neoplasm of the thyroid gland
4902	NRTN	HP:0012719	Functional abnormality of the gastrointestinal tract
4902	NRTN	HP:0001531	Failure to thrive in infancy
4902	NRTN	HP:0005214	Intestinal obstruction
4902	NRTN	HP:0000407	Sensorineural hearing impairment
4902	NRTN	HP:0001824	Weight loss
4905	NSF	HP:0010851	EEG with burst suppression
4905	NSF	HP:0000006	Autosomal dominant inheritance
4905	NSF	HP:0002643	Neonatal respiratory distress
4905	NSF	HP:0002187	Intellectual disability, profound
4905	NSF	HP:0200134	Epileptic encephalopathy
4905	NSF	HP:0011451	Primary microcephaly
4905	NSF	HP:0001522	Death in infancy
4905	NSF	HP:0001518	Small for gestational age
4905	NSF	HP:0011097	Epileptic spasm
4905	NSF	HP:0032792	Tonic seizure
4905	NSF	HP:0001789	Hydrops fetalis
4907	NT5E	HP:0025324	Arterial occlusion
4907	NT5E	HP:0000007	Autosomal recessive inheritance
4907	NT5E	HP:0025477	Periarticular calcification
4907	NT5E	HP:0012101	Decreased serum creatinine
4907	NT5E	HP:0011986	Ectopic ossification
4907	NT5E	HP:0025015	Abnormal vascular morphology
4907	NT5E	HP:0005645	Intervertebral disk calcification
4907	NT5E	HP:0004417	Intermittent claudication
4907	NT5E	HP:0003207	Arterial calcification
4907	NT5E	HP:0005116	Arterial tortuosity
4907	NT5E	HP:0031303	Femoral arterial calcification
4907	NT5E	HP:0031304	Iliac arterial calcification
4907	NT5E	HP:0031305	Tibial arterial calcification
4907	NT5E	HP:0011025	Abnormal cardiovascular system physiology
4907	NT5E	HP:0001717	Coronary artery calcification
4909	NTF4	HP:0012108	Open angle glaucoma
4913	NTHL1	HP:0002671	Basal cell carcinoma
4913	NTHL1	HP:0000007	Autosomal recessive inheritance
4913	NTHL1	HP:0012125	Prostate cancer
4913	NTHL1	HP:0000138	Ovarian cyst
4913	NTHL1	HP:0012114	Endometrial carcinoma
4913	NTHL1	HP:0031287	Seborrheic keratosis
4913	NTHL1	HP:0003581	Adult onset
4913	NTHL1	HP:0009725	Bladder neoplasm
4913	NTHL1	HP:0100743	Neoplasm of the rectum
4913	NTHL1	HP:0003002	Breast carcinoma
4913	NTHL1	HP:0003003	Colon cancer
4913	NTHL1	HP:0008069	Neoplasm of the skin
4913	NTHL1	HP:0002860	Squamous cell carcinoma
4913	NTHL1	HP:0002858	Meningioma
4913	NTHL1	HP:0005227	Adenomatous colonic polyposis
4913	NTHL1	HP:0006725	Pancreatic adenocarcinoma
4913	NTHL1	HP:0006771	Duodenal adenocarcinoma
4913	NTHL1	HP:0012539	Non-Hodgkin lymphoma
4914	NTRK1	HP:0100963	Hyperesthesia
4914	NTRK1	HP:0010885	Avascular necrosis
4914	NTRK1	HP:0007249	Decreased number of small peripheral myelinated nerve fibers
4914	NTRK1	HP:0001279	Syncope
4914	NTRK1	HP:0001256	Intellectual disability, mild
4914	NTRK1	HP:0001249	Intellectual disability
4914	NTRK1	HP:0001263	Global developmental delay
4914	NTRK1	HP:0100851	Abnormal emotion/affect behavior
4914	NTRK1	HP:0007460	Autoamputation of digits
4914	NTRK1	HP:0006121	Acral ulceration
4914	NTRK1	HP:0002661	Painless fractures due to injury
4914	NTRK1	HP:0001328	Specific learning disability
4914	NTRK1	HP:0000007	Autosomal recessive inheritance
4914	NTRK1	HP:0012170	Nail-biting
4914	NTRK1	HP:0000164	Abnormality of the dentition
4914	NTRK1	HP:0000168	Abnormality of the gingiva
4914	NTRK1	HP:0002754	Osteomyelitis
4914	NTRK1	HP:0002715	Abnormality of the immune system
4914	NTRK1	HP:0002726	Recurrent Staphylococcus aureus infections
4914	NTRK1	HP:0002015	Dysphagia
4914	NTRK1	HP:0100537	Fasciitis
4914	NTRK1	HP:0002045	Hypothermia
4914	NTRK1	HP:0003474	Somatic sensory dysfunction
4914	NTRK1	HP:0002100	Recurrent aspiration pneumonia
4914	NTRK1	HP:0002164	Nail dysplasia
4914	NTRK1	HP:0100491	Abnormality of lower limb joint
4914	NTRK1	HP:0003593	Infantile onset
4914	NTRK1	HP:0002270	Abnormality of the autonomic nervous system
4914	NTRK1	HP:0100710	Impulsivity
4914	NTRK1	HP:0100712	Abnormal lumbar spine morphology
4914	NTRK1	HP:0002209	Sparse scalp hair
4914	NTRK1	HP:0008404	Nail dystrophy
4914	NTRK1	HP:0100725	Lichenification
4914	NTRK1	HP:0007021	Pain insensitivity
4914	NTRK1	HP:0011968	Feeding difficulties
4914	NTRK1	HP:0001058	Poor wound healing
4914	NTRK1	HP:0002355	Difficulty walking
4914	NTRK1	HP:0010829	Impaired temperature sensation
4914	NTRK1	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
4914	NTRK1	HP:0009085	Alveolar ridge overgrowth
4914	NTRK1	HP:0012622	Chronic kidney disease
4914	NTRK1	HP:0001955	Unexplained fevers
4914	NTRK1	HP:0001954	Recurrent fever
4914	NTRK1	HP:0001903	Anemia
4914	NTRK1	HP:0004302	Functional motor deficit
4914	NTRK1	HP:0003028	Abnormality of the ankle
4914	NTRK1	HP:0000752	Hyperactivity
4914	NTRK1	HP:0000736	Short attention span
4914	NTRK1	HP:0000742	Self-mutilation
4914	NTRK1	HP:0000712	Emotional lability
4914	NTRK1	HP:0030757	Tooth abscess
4914	NTRK1	HP:0003134	Abnormality of peripheral nerve conduction
4914	NTRK1	HP:0012804	Corneal ulceration
4914	NTRK1	HP:0003095	Septic arthritis
4914	NTRK1	HP:0003091	Trophic limb changes
4914	NTRK1	HP:0003272	Abnormal hip bone morphology
4914	NTRK1	HP:0030811	Tongue pain
4914	NTRK1	HP:0008000	Decreased corneal reflex
4914	NTRK1	HP:0000975	Hyperhidrosis
4914	NTRK1	HP:0000978	Bruising susceptibility
4914	NTRK1	HP:0000987	Atypical scarring of skin
4914	NTRK1	HP:0000958	Dry skin
4914	NTRK1	HP:0000970	Anhidrosis
4914	NTRK1	HP:0000272	Malar flattening
4914	NTRK1	HP:0007759	Opacification of the corneal stroma
4914	NTRK1	HP:0002821	Neuropathic arthropathy
4914	NTRK1	HP:0001510	Growth delay
4914	NTRK1	HP:0002936	Distal sensory impairment
4914	NTRK1	HP:0006480	Premature loss of teeth
4914	NTRK1	HP:0012332	Abnormal autonomic nervous system physiology
4914	NTRK1	HP:0025615	Abscess
4914	NTRK1	HP:0005368	Abnormality of humoral immunity
4914	NTRK1	HP:0005307	Postural hypotension with compensatory tachycardia
4914	NTRK1	HP:0011136	Aplasia of the sweat glands
4914	NTRK1	HP:0000495	Recurrent corneal erosions
4914	NTRK1	HP:0000491	Keratitis
4914	NTRK1	HP:0000490	Deeply set eye
4914	NTRK1	HP:0000559	Corneal scarring
4915	NTRK2	HP:0010864	Intellectual disability, severe
4915	NTRK2	HP:0002421	Poor head control
4915	NTRK2	HP:0001298	Encephalopathy
4915	NTRK2	HP:0001290	Generalized hypotonia
4915	NTRK2	HP:0001273	Abnormal corpus callosum morphology
4915	NTRK2	HP:0001268	Mental deterioration
4915	NTRK2	HP:0001250	Seizure
4915	NTRK2	HP:0001252	Hypotonia
4915	NTRK2	HP:0001251	Ataxia
4915	NTRK2	HP:0001249	Intellectual disability
4915	NTRK2	HP:0001265	Hyporeflexia
4915	NTRK2	HP:0001264	Spastic diplegia
4915	NTRK2	HP:0002591	Polyphagia
4915	NTRK2	HP:0001263	Global developmental delay
4915	NTRK2	HP:0001257	Spasticity
4915	NTRK2	HP:0002540	Inability to walk
4915	NTRK2	HP:0002521	Hypsarrhythmia
4915	NTRK2	HP:0002509	Limb hypertonia
4915	NTRK2	HP:0001347	Hyperreflexia
4915	NTRK2	HP:0001344	Absent speech
4915	NTRK2	HP:0001337	Tremor
4915	NTRK2	HP:0000006	Autosomal dominant inheritance
4915	NTRK2	HP:0001336	Myoclonus
4915	NTRK2	HP:0001315	Reduced tendon reflexes
4915	NTRK2	HP:0002020	Gastroesophageal reflux
4915	NTRK2	HP:0002063	Rigidity
4915	NTRK2	HP:0002059	Cerebral atrophy
4915	NTRK2	HP:0002121	Generalized non-motor (absence) seizure
4915	NTRK2	HP:0002133	Status epilepticus
4915	NTRK2	HP:0003593	Infantile onset
4915	NTRK2	HP:0100710	Impulsivity
4915	NTRK2	HP:0200134	Epileptic encephalopathy
4915	NTRK2	HP:0007018	Attention deficit hyperactivity disorder
4915	NTRK2	HP:0011968	Feeding difficulties
4915	NTRK2	HP:0002376	Developmental regression
4915	NTRK2	HP:0002355	Difficulty walking
4915	NTRK2	HP:0002317	Unsteady gait
4915	NTRK2	HP:0010844	EEG with multifocal slow activity
4915	NTRK2	HP:0100660	Dyskinesia
4915	NTRK2	HP:0000639	Nystagmus
4915	NTRK2	HP:0000648	Optic atrophy
4915	NTRK2	HP:0011344	Severe global developmental delay
4915	NTRK2	HP:0000668	Hypodontia
4915	NTRK2	HP:0004322	Short stature
4915	NTRK2	HP:0004305	Involuntary movements
4915	NTRK2	HP:0000750	Delayed speech and language development
4915	NTRK2	HP:0000717	Autism
4915	NTRK2	HP:0000729	Autistic behavior
4915	NTRK2	HP:0000708	Atypical behavior
4915	NTRK2	HP:0000707	Abnormality of the nervous system
4915	NTRK2	HP:0011443	Abnormality of coordination
4915	NTRK2	HP:0000252	Microcephaly
4915	NTRK2	HP:0001558	Decreased fetal movement
4915	NTRK2	HP:0001508	Failure to thrive
4915	NTRK2	HP:0001513	Obesity
4915	NTRK2	HP:0000348	High forehead
4915	NTRK2	HP:0000324	Facial asymmetry
4915	NTRK2	HP:0012469	Infantile spasms
4915	NTRK2	HP:0000494	Downslanted palpebral fissures
4915	NTRK2	HP:0012448	Delayed myelination
4915	NTRK2	HP:0012444	Brain atrophy
4915	NTRK2	HP:0012447	Abnormal myelination
4915	NTRK2	HP:0011121	Abnormality of skin morphology
4915	NTRK2	HP:0005484	Secondary microcephaly
4915	NTRK2	HP:0000508	Ptosis
4915	NTRK2	HP:0000505	Visual impairment
4915	NTRK2	HP:0000504	Abnormality of vision
4915	NTRK2	HP:0012547	Abnormal involuntary eye movements
4915	NTRK2	HP:0000546	Retinal degeneration
4919	ROR1	HP:0001270	Motor delay
4919	ROR1	HP:0000007	Autosomal recessive inheritance
4919	ROR1	HP:0003593	Infantile onset
4919	ROR1	HP:0008527	Congenital sensorineural hearing impairment
4919	ROR1	HP:0000612	Iris coloboma
4920	ROR2	HP:0001171	Split hand
4920	ROR2	HP:0001156	Brachydactyly
4920	ROR2	HP:0001159	Syndactyly
4920	ROR2	HP:0009883	Duplication of the distal phalanx of hand
4920	ROR2	HP:0009882	Short distal phalanx of finger
4920	ROR2	HP:0001249	Intellectual disability
4920	ROR2	HP:0001263	Global developmental delay
4920	ROR2	HP:0006101	Finger syndactyly
4920	ROR2	HP:0008736	Hypoplasia of penis
4920	ROR2	HP:0000060	Clitoral hypoplasia
4920	ROR2	HP:0000059	Hypoplastic labia majora
4920	ROR2	HP:0000075	Renal duplication
4920	ROR2	HP:0000054	Micropenis
4920	ROR2	HP:0001388	Joint laxity
4920	ROR2	HP:0000023	Inguinal hernia
4920	ROR2	HP:0000028	Cryptorchidism
4920	ROR2	HP:0008873	Disproportionate short-limb short stature
4920	ROR2	HP:0006216	Single interphalangeal crease of fifth finger
4920	ROR2	HP:0000007	Autosomal recessive inheritance
4920	ROR2	HP:0000003	Multicystic kidney dysplasia
4920	ROR2	HP:0000006	Autosomal dominant inheritance
4920	ROR2	HP:0002650	Scoliosis
4920	ROR2	HP:0000164	Abnormality of the dentition
4920	ROR2	HP:0000158	Macroglossia
4920	ROR2	HP:0000174	Abnormal palate morphology
4920	ROR2	HP:0000154	Wide mouth
4920	ROR2	HP:0005011	Mesomelic arm shortening
4920	ROR2	HP:0007598	Bilateral single transverse palmar creases
4920	ROR2	HP:0000121	Nephrocalcinosis
4920	ROR2	HP:0000126	Hydronephrosis
4920	ROR2	HP:0002750	Delayed skeletal maturation
4920	ROR2	HP:0002714	Downturned corners of mouth
4920	ROR2	HP:0002007	Frontal bossing
4920	ROR2	HP:0011800	Midface retrusion
4920	ROR2	HP:0009466	Radial deviation of finger
4920	ROR2	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
4920	ROR2	HP:0009473	Joint contracture of the hand
4920	ROR2	HP:0003422	Vertebral segmentation defect
4920	ROR2	HP:0011927	Short digit
4920	ROR2	HP:0002164	Nail dysplasia
4920	ROR2	HP:0100490	Camptodactyly of finger
4920	ROR2	HP:0010554	Cutaneous finger syndactyly
4920	ROR2	HP:0002263	Exaggerated cupid's bow
4920	ROR2	HP:0003577	Congenital onset
4920	ROR2	HP:0002205	Recurrent respiratory infections
4920	ROR2	HP:0100798	Fingernail dysplasia
4920	ROR2	HP:0001052	Nevus flammeus
4920	ROR2	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
4920	ROR2	HP:0010804	Tented upper lip vermilion
4920	ROR2	HP:0010807	Open bite
4920	ROR2	HP:0200055	Small hand
4920	ROR2	HP:0008467	Thoracic hemivertebrae
4920	ROR2	HP:0004209	Clinodactyly of the 5th finger
4920	ROR2	HP:0010059	Broad hallux phalanx
4920	ROR2	HP:0004279	Short palm
4920	ROR2	HP:0004220	Short middle phalanx of the 5th finger
4920	ROR2	HP:0000637	Long palpebral fissure
4920	ROR2	HP:0000696	Delayed eruption of permanent teeth
4920	ROR2	HP:0000678	Dental crowding
4920	ROR2	HP:0011304	Broad thumb
4920	ROR2	HP:0000668	Hypodontia
4920	ROR2	HP:0004322	Short stature
4920	ROR2	HP:0005648	Bilateral ulnar hypoplasia
4920	ROR2	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
4920	ROR2	HP:0003083	Dislocated radial head
4920	ROR2	HP:0004397	Ectopic anus
4920	ROR2	HP:0003042	Elbow dislocation
4920	ROR2	HP:0003026	Short long bone
4920	ROR2	HP:0003027	Mesomelia
4920	ROR2	HP:0000767	Pectus excavatum
4920	ROR2	HP:0000768	Pectus carinatum
4920	ROR2	HP:0009177	Proximal/middle symphalangism of 5th finger
4920	ROR2	HP:0000787	Nephrolithiasis
4920	ROR2	HP:0003196	Short nose
4920	ROR2	HP:0000921	Missing ribs
4920	ROR2	HP:0000902	Rib fusion
4920	ROR2	HP:0012815	Hypoplastic female external genitalia
4920	ROR2	HP:0010292	Absent uvula
4920	ROR2	HP:0010297	Bifid tongue
4920	ROR2	HP:0010296	Ankyloglossia
4920	ROR2	HP:0005831	Type B brachydactyly
4920	ROR2	HP:0003272	Abnormal hip bone morphology
4920	ROR2	HP:0004590	Hypoplastic sacrum
4920	ROR2	HP:0000960	Sacral dimple
4920	ROR2	HP:0005819	Short middle phalanx of finger
4920	ROR2	HP:0000286	Epicanthus
4920	ROR2	HP:0000278	Retrognathia
4920	ROR2	HP:0001596	Alopecia
4920	ROR2	HP:0000260	Wide anterior fontanel
4920	ROR2	HP:0000256	Macrocephaly
4920	ROR2	HP:0000270	Delayed cranial suture closure
4920	ROR2	HP:0000272	Malar flattening
4920	ROR2	HP:0030084	Clinodactyly
4920	ROR2	HP:0002808	Kyphosis
4920	ROR2	HP:0005048	Synostosis of carpal bones
4920	ROR2	HP:0000219	Thin upper lip vermilion
4920	ROR2	HP:0000212	Gingival overgrowth
4920	ROR2	HP:0001522	Death in infancy
4920	ROR2	HP:0001537	Umbilical hernia
4920	ROR2	HP:0000207	Triangular mouth
4920	ROR2	HP:0000202	Orofacial cleft
4920	ROR2	HP:0011069	Supernumerary tooth
4920	ROR2	HP:0012385	Camptodactyly
4920	ROR2	HP:0012368	Flat face
4920	ROR2	HP:0000389	Chronic otitis media
4920	ROR2	HP:0002937	Hemivertebrae
4920	ROR2	HP:0002948	Vertebral fusion
4920	ROR2	HP:0002944	Thoracolumbar scoliosis
4920	ROR2	HP:0000365	Hearing impairment
4920	ROR2	HP:0000358	Posteriorly rotated ears
4920	ROR2	HP:0000369	Low-set ears
4920	ROR2	HP:0000368	Low-set, posteriorly rotated ears
4920	ROR2	HP:0000343	Long philtrum
4920	ROR2	HP:0001679	Abnormal aortic morphology
4920	ROR2	HP:0000347	Micrognathia
4920	ROR2	HP:0000316	Hypertelorism
4920	ROR2	HP:0002986	Radial bowing
4920	ROR2	HP:0000322	Short philtrum
4920	ROR2	HP:0002984	Hypoplasia of the radius
4920	ROR2	HP:0001629	Ventricular septal defect
4920	ROR2	HP:0001641	Abnormal pulmonary valve morphology
4920	ROR2	HP:0001636	Tetralogy of Fallot
4920	ROR2	HP:0001631	Atrial septal defect
4920	ROR2	HP:0001705	Right ventricular outlet tract obstruction
4920	ROR2	HP:0001702	Abnormal tricuspid valve morphology
4920	ROR2	HP:0005280	Depressed nasal bridge
4920	ROR2	HP:0000486	Strabismus
4920	ROR2	HP:0000494	Downslanted palpebral fissures
4920	ROR2	HP:0001792	Small nail
4920	ROR2	HP:0000463	Anteverted nares
4920	ROR2	HP:0000470	Short neck
4920	ROR2	HP:0001798	Anonychia
4920	ROR2	HP:0001770	Toe syndactyly
4920	ROR2	HP:0000431	Wide nasal bridge
4920	ROR2	HP:0000527	Long eyelashes
4920	ROR2	HP:0001852	Sandal gap
4920	ROR2	HP:0000520	Proptosis
4920	ROR2	HP:0001853	Bifid distal phalanx of toe
4920	ROR2	HP:0001837	Broad toe
4920	ROR2	HP:0000508	Ptosis
4920	ROR2	HP:0001804	Hypoplastic fingernail
4920	ROR2	HP:0000582	Upslanted palpebral fissure
4920	ROR2	HP:0000592	Blue sclerae
4920	ROR2	HP:0011220	Prominent forehead
4921	DDR2	HP:0001169	Broad palm
4921	DDR2	HP:0009931	Enlarged naris
4921	DDR2	HP:0009875	Triangular shaped distal phalanges of the hand
4921	DDR2	HP:0001270	Motor delay
4921	DDR2	HP:0001252	Hypotonia
4921	DDR2	HP:0001263	Global developmental delay
4921	DDR2	HP:0001230	Broad metacarpals
4921	DDR2	HP:0001239	Wrist flexion contracture
4921	DDR2	HP:0006009	Broad phalanx
4921	DDR2	HP:0001386	Joint swelling
4921	DDR2	HP:0008873	Disproportionate short-limb short stature
4921	DDR2	HP:0007502	Follicular hyperkeratosis
4921	DDR2	HP:0000007	Autosomal recessive inheritance
4921	DDR2	HP:0000006	Autosomal dominant inheritance
4921	DDR2	HP:0002650	Scoliosis
4921	DDR2	HP:0002651	Spondyloepimetaphyseal dysplasia
4921	DDR2	HP:0002787	Tracheal calcification
4921	DDR2	HP:0002007	Frontal bossing
4921	DDR2	HP:0003311	Hypoplasia of the odontoid process
4921	DDR2	HP:0003320	C1-C2 subluxation
4921	DDR2	HP:0011800	Midface retrusion
4921	DDR2	HP:0002091	Restrictive ventilatory defect
4921	DDR2	HP:0003396	Syringomyelia
4921	DDR2	HP:0100593	Calcification of cartilage
4921	DDR2	HP:0003467	Atlantoaxial instability
4921	DDR2	HP:0002107	Pneumothorax
4921	DDR2	HP:0002176	Spinal cord compression
4921	DDR2	HP:0100720	Hypoplasia of the ear cartilage
4921	DDR2	HP:0010655	Epiphyseal stippling
4921	DDR2	HP:0430007	Symblepharon
4921	DDR2	HP:0001058	Poor wound healing
4921	DDR2	HP:0009803	Short phalanx of finger
4921	DDR2	HP:0010783	Erythema
4921	DDR2	HP:0009797	Cholesteatoma
4921	DDR2	HP:0100689	Decreased corneal thickness
4921	DDR2	HP:0009771	Osteolytic defects of the phalanges of the hand
4921	DDR2	HP:0032107	Limbal stem cell deficiency
4921	DDR2	HP:0004279	Short palm
4921	DDR2	HP:0010049	Short metacarpal
4921	DDR2	HP:0000678	Dental crowding
4921	DDR2	HP:0005622	Broad long bones
4921	DDR2	HP:0030674	Antenatal onset
4921	DDR2	HP:0003085	Long fibula
4921	DDR2	HP:0003015	Flared metaphysis
4921	DDR2	HP:0003026	Short long bone
4921	DDR2	HP:0000767	Pectus excavatum
4921	DDR2	HP:0000768	Pectus carinatum
4921	DDR2	HP:0011496	Corneal neovascularization
4921	DDR2	HP:0009164	Abnormal calcification of the carpal bones
4921	DDR2	HP:0012785	Flexion contracture of finger
4921	DDR2	HP:0000774	Narrow chest
4921	DDR2	HP:0000773	Short ribs
4921	DDR2	HP:0003196	Short nose
4921	DDR2	HP:0000926	Platyspondyly
4921	DDR2	HP:0000922	Posterior rib cupping
4921	DDR2	HP:0000907	Anterior rib cupping
4921	DDR2	HP:0000963	Thin skin
4921	DDR2	HP:0045025	Narrow palpebral fissure
4921	DDR2	HP:0009381	Short finger
4921	DDR2	HP:0000286	Epicanthus
4921	DDR2	HP:0000283	Broad face
4921	DDR2	HP:0001591	Bell-shaped thorax
4921	DDR2	HP:0000260	Wide anterior fontanel
4921	DDR2	HP:0000276	Long face
4921	DDR2	HP:0000272	Malar flattening
4921	DDR2	HP:0006466	Ankle flexion contracture
4921	DDR2	HP:0006380	Knee flexion contracture
4921	DDR2	HP:0000218	High palate
4921	DDR2	HP:0000212	Gingival overgrowth
4921	DDR2	HP:0002869	Flared iliac wing
4921	DDR2	HP:0030043	Hip subluxation
4921	DDR2	HP:0005257	Thoracic hypoplasia
4921	DDR2	HP:0006532	Recurrent pneumonia
4921	DDR2	HP:0000358	Posteriorly rotated ears
4921	DDR2	HP:0000369	Low-set ears
4921	DDR2	HP:0000343	Long philtrum
4921	DDR2	HP:0000347	Micrognathia
4921	DDR2	HP:0002983	Micromelia
4921	DDR2	HP:0002979	Bowing of the legs
4921	DDR2	HP:0000316	Hypertelorism
4921	DDR2	HP:0025616	Sterile abscess
4921	DDR2	HP:0000331	Short chin
4921	DDR2	HP:0002987	Elbow flexion contracture
4921	DDR2	HP:0006600	Progressive calcification of costochondral cartilage
4921	DDR2	HP:0000405	Conductive hearing impairment
4921	DDR2	HP:0005280	Depressed nasal bridge
4921	DDR2	HP:0000460	Narrow nose
4921	DDR2	HP:0011120	Concave nasal ridge
4921	DDR2	HP:0000457	Depressed nasal ridge
4921	DDR2	HP:0000470	Short neck
4921	DDR2	HP:0000413	Atresia of the external auditory canal
4921	DDR2	HP:0000430	Underdeveloped nasal alae
4921	DDR2	HP:0005462	Calcification of falx cerebri
4921	DDR2	HP:0001840	Metatarsus adductus
4921	DDR2	HP:0000520	Proptosis
4921	DDR2	HP:0000505	Visual impairment
4921	DDR2	HP:0000581	Blepharophimosis
4921	DDR2	HP:0000556	Retinal dystrophy
4926	NUMA1	HP:0031035	Chronic infection
4926	NUMA1	HP:0031020	Bone marrow hypercellularity
4926	NUMA1	HP:0001324	Muscle weakness
4926	NUMA1	HP:0002653	Bone pain
4926	NUMA1	HP:0012135	Abnormal granulocytopoietic cell morphology
4926	NUMA1	HP:0025420	Diffuse alveolar hemorrhage
4926	NUMA1	HP:0001428	Somatic mutation
4926	NUMA1	HP:0031245	Productive cough
4926	NUMA1	HP:0002716	Lymphadenopathy
4926	NUMA1	HP:0002027	Abdominal pain
4926	NUMA1	HP:0030955	Alcoholism
4926	NUMA1	HP:0002039	Anorexia
4926	NUMA1	HP:0011900	Hypofibrinogenemia
4926	NUMA1	HP:0100758	Gangrene
4926	NUMA1	HP:0004836	Acute promyelocytic leukemia
4926	NUMA1	HP:0002321	Vertigo
4926	NUMA1	HP:0100608	Metrorrhagia
4926	NUMA1	HP:0005521	Disseminated intravascular coagulation
4926	NUMA1	HP:0001974	Leukocytosis
4926	NUMA1	HP:0001945	Fever
4926	NUMA1	HP:0001903	Anemia
4926	NUMA1	HP:0000790	Hematuria
4926	NUMA1	HP:0010280	Stomatitis
4926	NUMA1	HP:0000979	Purpura
4926	NUMA1	HP:0000978	Bruising susceptibility
4926	NUMA1	HP:0000967	Petechiae
4926	NUMA1	HP:0000212	Gingival overgrowth
4926	NUMA1	HP:0002875	Exertional dyspnea
4926	NUMA1	HP:0000225	Gingival bleeding
4926	NUMA1	HP:0031364	Ecchymosis
4926	NUMA1	HP:0012378	Fatigue
4926	NUMA1	HP:0030140	Oral cavity bleeding
4926	NUMA1	HP:0000421	Epistaxis
4926	NUMA1	HP:0001824	Weight loss
4926	NUMA1	HP:0001892	Abnormal bleeding
4926	NUMA1	HP:0001882	Leukopenia
4926	NUMA1	HP:0001873	Thrombocytopenia
4926	NUMA1	HP:0001876	Pancytopenia
4926	NUMA1	HP:0001875	Neutropenia
4927	NUP88	HP:0010963	Absence of stomach bubble on fetal sonography
4927	NUP88	HP:0003700	Generalized amyotrophy
4927	NUP88	HP:0001262	Excessive daytime somnolence
4927	NUP88	HP:0003811	Neonatal death
4927	NUP88	HP:0000028	Cryptorchidism
4927	NUP88	HP:0000007	Autosomal recessive inheritance
4927	NUP88	HP:0001305	Dandy-Walker malformation
4927	NUP88	HP:0002650	Scoliosis
4927	NUP88	HP:0000175	Cleft palate
4927	NUP88	HP:0002089	Pulmonary hypoplasia
4927	NUP88	HP:0002093	Respiratory insufficiency
4927	NUP88	HP:0010489	Absent palmar crease
4927	NUP88	HP:0100490	Camptodactyly of finger
4927	NUP88	HP:0003577	Congenital onset
4927	NUP88	HP:0001059	Pterygium
4927	NUP88	HP:0002375	Hypokinesia
4927	NUP88	HP:0002304	Akinesia
4927	NUP88	HP:0001989	Fetal akinesia sequence
4927	NUP88	HP:0034198	Second trimester onset
4927	NUP88	HP:0000878	11 pairs of ribs
4927	NUP88	HP:0034241	Prenatal death
4927	NUP88	HP:0003202	Skeletal muscle atrophy
4927	NUP88	HP:0000278	Retrognathia
4927	NUP88	HP:0002828	Multiple joint contractures
4927	NUP88	HP:0002808	Kyphosis
4927	NUP88	HP:0002804	Arthrogryposis multiplex congenita
4927	NUP88	HP:0000218	High palate
4927	NUP88	HP:0001561	Polyhydramnios
4927	NUP88	HP:0001558	Decreased fetal movement
4927	NUP88	HP:0001511	Intrauterine growth retardation
4927	NUP88	HP:0012385	Camptodactyly
4927	NUP88	HP:0025676	Fetal pleural effusion
4927	NUP88	HP:0005245	Intestinal hypoplasia
4927	NUP88	HP:0000358	Posteriorly rotated ears
4927	NUP88	HP:0000369	Low-set ears
4927	NUP88	HP:0000347	Micrognathia
4927	NUP88	HP:0000316	Hypertelorism
4927	NUP88	HP:0005280	Depressed nasal bridge
4927	NUP88	HP:0000476	Cystic hygroma
4927	NUP88	HP:0000475	Broad neck
4927	NUP88	HP:0000470	Short neck
4927	NUP88	HP:0000431	Wide nasal bridge
4927	NUP88	HP:0001838	Rocker bottom foot
4929	NR4A2	HP:0003785	Decreased CSF homovanillic acid concentration
4929	NR4A2	HP:0002451	Limb dystonia
4929	NR4A2	HP:0007325	Generalized dystonia
4929	NR4A2	HP:0007311	Short stepped shuffling gait
4929	NR4A2	HP:0003745	Sporadic
4929	NR4A2	HP:0001256	Intellectual disability, mild
4929	NR4A2	HP:0001250	Seizure
4929	NR4A2	HP:0001251	Ataxia
4929	NR4A2	HP:0001249	Intellectual disability
4929	NR4A2	HP:0001260	Dysarthria
4929	NR4A2	HP:0001263	Global developmental delay
4929	NR4A2	HP:0002529	Neuronal loss in central nervous system
4929	NR4A2	HP:0001370	Rheumatoid arthritis
4929	NR4A2	HP:0001348	Brisk reflexes
4929	NR4A2	HP:0001332	Dystonia
4929	NR4A2	HP:0000012	Urinary urgency
4929	NR4A2	HP:0001337	Tremor
4929	NR4A2	HP:0000006	Autosomal dominant inheritance
4929	NR4A2	HP:0002650	Scoliosis
4929	NR4A2	HP:0001300	Parkinsonism
4929	NR4A2	HP:0002601	Paresis of extensor muscles of the big toe
4929	NR4A2	HP:0002019	Constipation
4929	NR4A2	HP:0002015	Dysphagia
4929	NR4A2	HP:0002069	Bilateral tonic-clonic seizure
4929	NR4A2	HP:0002067	Bradykinesia
4929	NR4A2	HP:0002066	Gait ataxia
4929	NR4A2	HP:0002063	Rigidity
4929	NR4A2	HP:0002071	Abnormality of extrapyramidal motor function
4929	NR4A2	HP:0003487	Babinski sign
4929	NR4A2	HP:0002166	Impaired vibration sensation in the lower limbs
4929	NR4A2	HP:0002174	Postural tremor
4929	NR4A2	HP:0002172	Postural instability
4929	NR4A2	HP:0008297	Transient hyperphenylalaninemia
4929	NR4A2	HP:0003593	Infantile onset
4929	NR4A2	HP:0003587	Insidious onset
4929	NR4A2	HP:0003584	Late onset
4929	NR4A2	HP:0003581	Adult onset
4929	NR4A2	HP:0011968	Feeding difficulties
4929	NR4A2	HP:0011960	Substantia nigra gliosis
4929	NR4A2	HP:0002395	Lower limb hyperreflexia
4929	NR4A2	HP:0002360	Sleep disturbance
4929	NR4A2	HP:0003676	Progressive
4929	NR4A2	HP:0002322	Resting tremor
4929	NR4A2	HP:0002312	Clumsiness
4929	NR4A2	HP:0002304	Akinesia
4929	NR4A2	HP:0031825	Freezing of gait
4929	NR4A2	HP:0000666	Horizontal nystagmus
4929	NR4A2	HP:0031908	Micrographia
4929	NR4A2	HP:0004373	Focal dystonia
4929	NR4A2	HP:0000751	Personality changes
4929	NR4A2	HP:0000738	Hallucinations
4929	NR4A2	HP:0000739	Anxiety
4929	NR4A2	HP:0000750	Delayed speech and language development
4929	NR4A2	HP:0000716	Depression
4929	NR4A2	HP:0000726	Dementia
4929	NR4A2	HP:0000722	Compulsive behaviors
4929	NR4A2	HP:0011463	Childhood onset
4929	NR4A2	HP:0100315	Lewy bodies
4929	NR4A2	HP:0000822	Hypertension
4929	NR4A2	HP:0000821	Hypothyroidism
4929	NR4A2	HP:0005876	Progressive flexion contractures
4929	NR4A2	HP:0034316	Thinning of the substantia nigra pars compacta
4929	NR4A2	HP:0045007	Abnormal substantia nigra morphology
4929	NR4A2	HP:0000298	Mask-like facies
4929	NR4A2	HP:0030007	EMG: positive sharp waves
4929	NR4A2	HP:0012378	Fatigue
4929	NR4A2	HP:0000365	Hearing impairment
4929	NR4A2	HP:0012332	Abnormal autonomic nervous system physiology
4929	NR4A2	HP:0001621	Weak voice
4929	NR4A2	HP:0011153	Focal motor seizure
4929	NR4A2	HP:0000473	Torticollis
4929	NR4A2	HP:0001762	Talipes equinovarus
4929	NR4A2	HP:0001761	Pes cavus
4935	GPR143	HP:0001107	Ocular albinism
4935	GPR143	HP:0001103	Abnormal macular morphology
4935	GPR143	HP:0001361	Nystagmus-induced head nodding
4935	GPR143	HP:0001480	Freckling
4935	GPR143	HP:0007680	Depigmented fundus
4935	GPR143	HP:0001419	X-linked recessive inheritance
4935	GPR143	HP:0001417	X-linked inheritance
4935	GPR143	HP:0005592	Giant melanosomes in melanocytes
4935	GPR143	HP:0000639	Nystagmus
4935	GPR143	HP:0000646	Amblyopia
4935	GPR143	HP:0000613	Photophobia
4935	GPR143	HP:0000615	Abnormal pupil morphology
4935	GPR143	HP:0000666	Horizontal nystagmus
4935	GPR143	HP:0008069	Neoplasm of the skin
4935	GPR143	HP:0007750	Hypoplasia of the fovea
4935	GPR143	HP:0007730	Iris hypopigmentation
4935	GPR143	HP:0007894	Hypopigmentation of the fundus
4935	GPR143	HP:0000484	Hyperopic astigmatism
4935	GPR143	HP:0000483	Astigmatism
4935	GPR143	HP:0000486	Strabismus
4935	GPR143	HP:0000505	Visual impairment
4935	GPR143	HP:0000545	Myopia
4938	OAS1	HP:0003819	Death in childhood
4938	OAS1	HP:0000006	Autosomal dominant inheritance
4938	OAS1	HP:0002093	Respiratory insufficiency
4938	OAS1	HP:0003593	Infantile onset
4938	OAS1	HP:0002205	Recurrent respiratory infections
4938	OAS1	HP:0001974	Leukocytosis
4938	OAS1	HP:0004313	Decreased circulating antibody level
4938	OAS1	HP:0011421	Death in adolescence
4938	OAS1	HP:0001522	Death in infancy
4938	OAS1	HP:0006517	Intraalveolar phospholipid accumulation
4938	OAS1	HP:0001744	Splenomegaly
4942	OAT	HP:0001133	Constriction of peripheral visual field
4942	OAT	HP:0001103	Abnormal macular morphology
4942	OAT	HP:0003701	Proximal muscle weakness
4942	OAT	HP:0001250	Seizure
4942	OAT	HP:0012026	Hyperornithinemia
4942	OAT	HP:0000007	Autosomal recessive inheritance
4942	OAT	HP:0012152	Foveoschisis
4942	OAT	HP:0007675	Progressive night blindness
4942	OAT	HP:0003355	Aminoaciduria
4942	OAT	HP:0003457	EMG abnormality
4942	OAT	HP:0200065	Chorioretinal degeneration
4942	OAT	HP:0000618	Blindness
4942	OAT	HP:0030498	Macular thickening
4942	OAT	HP:0000662	Nyctalopia
4942	OAT	HP:0011463	Childhood onset
4942	OAT	HP:0040031	Chorioretinal hyperpigmentation
4942	OAT	HP:0001595	Abnormal hair morphology
4942	OAT	HP:0007787	Posterior subcapsular cataract
4942	OAT	HP:0000365	Hearing impairment
4942	OAT	HP:0000518	Cataract
4942	OAT	HP:0000529	Progressive visual loss
4942	OAT	HP:0000523	Subcapsular cataract
4942	OAT	HP:0000505	Visual impairment
4942	OAT	HP:0000533	Chorioretinal atrophy
4942	OAT	HP:0000545	Myopia
4948	OCA2	HP:0002465	Poor speech
4948	OCA2	HP:0025160	Abnormal temper tantrums
4948	OCA2	HP:0010864	Intellectual disability, severe
4948	OCA2	HP:0001100	Heterochromia iridis
4948	OCA2	HP:0001256	Intellectual disability, mild
4948	OCA2	HP:0001250	Seizure
4948	OCA2	HP:0001252	Hypotonia
4948	OCA2	HP:0001251	Ataxia
4948	OCA2	HP:0002578	Gastroparesis
4948	OCA2	HP:0002591	Polyphagia
4948	OCA2	HP:0001263	Global developmental delay
4948	OCA2	HP:0008770	Obsessive-compulsive trait
4948	OCA2	HP:0008734	Decreased testicular size
4948	OCA2	HP:0000064	Hypoplastic labia minora
4948	OCA2	HP:0000060	Clitoral hypoplasia
4948	OCA2	HP:0012056	Cutaneous melanoma
4948	OCA2	HP:0000044	Hypogonadotropic hypogonadism
4948	OCA2	HP:0000046	Small scrotum
4948	OCA2	HP:0001385	Hip dysplasia
4948	OCA2	HP:0000028	Cryptorchidism
4948	OCA2	HP:0008872	Feeding difficulties in infancy
4948	OCA2	HP:0031169	Postterm pregnancy
4948	OCA2	HP:0007481	Hyperpigmented nevi
4948	OCA2	HP:0001328	Specific learning disability
4948	OCA2	HP:0001344	Absent speech
4948	OCA2	HP:0002671	Basal cell carcinoma
4948	OCA2	HP:0000007	Autosomal recessive inheritance
4948	OCA2	HP:0001337	Tremor
4948	OCA2	HP:0001336	Myoclonus
4948	OCA2	HP:0002650	Scoliosis
4948	OCA2	HP:0031100	Decreased inhibin B level
4948	OCA2	HP:0007603	Freckles in sun-exposed areas
4948	OCA2	HP:0012166	Skin-picking
4948	OCA2	HP:0000154	Wide mouth
4948	OCA2	HP:0001480	Freckling
4948	OCA2	HP:0007663	Reduced visual acuity
4948	OCA2	HP:0008947	Infantile muscular hypotonia
4948	OCA2	HP:0012104	Parietal cortical atrophy
4948	OCA2	HP:0012105	Occipital cortical atrophy
4948	OCA2	HP:0002714	Downturned corners of mouth
4948	OCA2	HP:0002019	Constipation
4948	OCA2	HP:0002033	Poor suck
4948	OCA2	HP:0002015	Dysphagia
4948	OCA2	HP:0002079	Hypoplasia of the corpus callosum
4948	OCA2	HP:0002046	Heat intolerance
4948	OCA2	HP:0011734	Central adrenal insufficiency
4948	OCA2	HP:0011787	Central hypothyroidism
4948	OCA2	HP:0002141	Gait imbalance
4948	OCA2	HP:0002119	Ventriculomegaly
4948	OCA2	HP:0002136	Broad-based gait
4948	OCA2	HP:0002167	Abnormality of speech or vocalization
4948	OCA2	HP:0010505	Limitation of movement at ankles
4948	OCA2	HP:0100703	Tongue thrusting
4948	OCA2	HP:0100716	Self-injurious behavior
4948	OCA2	HP:0002227	White eyelashes
4948	OCA2	HP:0002226	White eyebrow
4948	OCA2	HP:0002205	Recurrent respiratory infections
4948	OCA2	HP:0100738	Abnormal eating behavior
4948	OCA2	HP:0100739	Bulimia
4948	OCA2	HP:0002297	Red hair
4948	OCA2	HP:0200098	Absent skin pigmentation
4948	OCA2	HP:0011968	Feeding difficulties
4948	OCA2	HP:0010627	Anterior pituitary hypoplasia
4948	OCA2	HP:0002395	Lower limb hyperreflexia
4948	OCA2	HP:0002360	Sleep disturbance
4948	OCA2	HP:0002342	Intellectual disability, moderate
4948	OCA2	HP:0001010	Hypopigmentation of the skin
4948	OCA2	HP:0001022	Albinism
4948	OCA2	HP:0002353	EEG abnormality
4948	OCA2	HP:0010829	Impaired temperature sensation
4948	OCA2	HP:0010808	Protruding tongue
4948	OCA2	HP:0200055	Small hand
4948	OCA2	HP:0010741	Pedal edema
4948	OCA2	HP:0002307	Drooling
4948	OCA2	HP:0009088	Speech articulation difficulties
4948	OCA2	HP:0005599	Hypopigmentation of hair
4948	OCA2	HP:0006889	Intellectual disability, borderline
4948	OCA2	HP:0000639	Nystagmus
4948	OCA2	HP:0000635	Blue irides
4948	OCA2	HP:0000613	Photophobia
4948	OCA2	HP:0011364	White hair
4948	OCA2	HP:0000687	Widely spaced teeth
4948	OCA2	HP:0012650	Perisylvian polymicrogyria
4948	OCA2	HP:0001999	Abnormal facial shape
4948	OCA2	HP:0004322	Short stature
4948	OCA2	HP:0004302	Functional motor deficit
4948	OCA2	HP:0000752	Hyperactivity
4948	OCA2	HP:0100022	Abnormality of movement
4948	OCA2	HP:0100023	Recurrent hand flapping
4948	OCA2	HP:0000736	Short attention span
4948	OCA2	HP:0000748	Inappropriate laughter
4948	OCA2	HP:0000717	Autism
4948	OCA2	HP:0000729	Autistic behavior
4948	OCA2	HP:0000709	Psychosis
4948	OCA2	HP:0000708	Atypical behavior
4948	OCA2	HP:0012758	Neurodevelopmental delay
4948	OCA2	HP:0000789	Infertility
4948	OCA2	HP:0000786	Primary amenorrhea
4948	OCA2	HP:0004485	Cessation of head growth
4948	OCA2	HP:0012805	Iris transillumination defect
4948	OCA2	HP:0000819	Diabetes mellitus
4948	OCA2	HP:0000826	Precocious puberty
4948	OCA2	HP:0000824	Decreased response to growth hormone stimulation test
4948	OCA2	HP:0000823	Delayed puberty
4948	OCA2	HP:0040082	Happy demeanor
4948	OCA2	HP:0030856	Posterior staphyloma
4948	OCA2	HP:0003241	External genital hypoplasia
4948	OCA2	HP:0000939	Osteoporosis
4948	OCA2	HP:0000938	Osteopenia
4948	OCA2	HP:0040196	Mild microcephaly
4948	OCA2	HP:0007703	Abnormality of retinal pigmentation
4948	OCA2	HP:0025551	Optic nerve misrouting
4948	OCA2	HP:0007750	Hypoplasia of the fovea
4948	OCA2	HP:0007730	Iris hypopigmentation
4948	OCA2	HP:0000219	Thin upper lip vermilion
4948	OCA2	HP:0001558	Decreased fetal movement
4948	OCA2	HP:0002870	Obstructive sleep apnea
4948	OCA2	HP:0002871	Central apnea
4948	OCA2	HP:0001508	Failure to thrive
4948	OCA2	HP:0001518	Small for gestational age
4948	OCA2	HP:0001513	Obesity
4948	OCA2	HP:0031507	Decreased circulating T4 concentration
4948	OCA2	HP:0007894	Hypopigmentation of the fundus
4948	OCA2	HP:0007874	Almond-shaped palpebral fissure
4948	OCA2	HP:0000303	Mandibular prognathia
4948	OCA2	HP:0007988	Macular hypopigmentation
4948	OCA2	HP:0000486	Strabismus
4948	OCA2	HP:0012448	Delayed myelination
4948	OCA2	HP:0001773	Short foot
4948	OCA2	HP:0012411	Premature pubarche
4948	OCA2	HP:0012412	Premature adrenarche
4948	OCA2	HP:0006739	Squamous cell carcinoma of the skin
4948	OCA2	HP:0005484	Secondary microcephaly
4948	OCA2	HP:0005469	Flat occiput
4948	OCA2	HP:0000505	Visual impairment
4948	OCA2	HP:0000504	Abnormality of vision
4948	OCA2	HP:0030339	Decreased circulating gonadotropin concentration
4948	OCA2	HP:0000577	Exotropia
4948	OCA2	HP:0011203	EEG with abnormally slow frequencies
4948	OCA2	HP:0000539	Abnormality of refraction
4948	OCA2	HP:0000545	Myopia
4952	OCRL	HP:0025131	Finger swelling
4952	OCRL	HP:0003774	Stage 5 chronic kidney disease
4952	OCRL	HP:0100820	Glomerulopathy
4952	OCRL	HP:0100825	Cheilitis
4952	OCRL	HP:0001284	Areflexia
4952	OCRL	HP:0100835	Benign neoplasm of the central nervous system
4952	OCRL	HP:0001250	Seizure
4952	OCRL	HP:0001252	Hypotonia
4952	OCRL	HP:0001249	Intellectual disability
4952	OCRL	HP:0001263	Global developmental delay
4952	OCRL	HP:0001225	Wrist swelling
4952	OCRL	HP:0000083	Renal insufficiency
4952	OCRL	HP:0000091	Abnormal renal tubule morphology
4952	OCRL	HP:0000093	Proteinuria
4952	OCRL	HP:0001369	Arthritis
4952	OCRL	HP:0001386	Joint swelling
4952	OCRL	HP:0001387	Joint stiffness
4952	OCRL	HP:0001382	Joint hypermobility
4952	OCRL	HP:0000023	Inguinal hernia
4952	OCRL	HP:0000028	Cryptorchidism
4952	OCRL	HP:0000027	Azoospermia
4952	OCRL	HP:0008897	Postnatal growth retardation
4952	OCRL	HP:0008872	Feeding difficulties in infancy
4952	OCRL	HP:0007513	Generalized hypopigmentation
4952	OCRL	HP:0002650	Scoliosis
4952	OCRL	HP:0001319	Neonatal hypotonia
4952	OCRL	HP:0000189	Narrow palate
4952	OCRL	HP:0000194	Open mouth
4952	OCRL	HP:0000164	Abnormality of the dentition
4952	OCRL	HP:0025435	Increased circulating lactate dehydrogenase concentration
4952	OCRL	HP:0001482	Subcutaneous nodule
4952	OCRL	HP:0007663	Reduced visual acuity
4952	OCRL	HP:0006297	Enamel hypoplasia
4952	OCRL	HP:0000121	Nephrocalcinosis
4952	OCRL	HP:0000114	Proximal tubulopathy
4952	OCRL	HP:0002757	Recurrent fractures
4952	OCRL	HP:0002756	Pathologic fracture
4952	OCRL	HP:0001419	X-linked recessive inheritance
4952	OCRL	HP:0002748	Rickets
4952	OCRL	HP:0002749	Osteomalacia
4952	OCRL	HP:0003355	Aminoaciduria
4952	OCRL	HP:0002024	Malabsorption
4952	OCRL	HP:0002020	Gastroesophageal reflux
4952	OCRL	HP:0002019	Constipation
4952	OCRL	HP:0002002	Deep philtrum
4952	OCRL	HP:0002007	Frontal bossing
4952	OCRL	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
4952	OCRL	HP:0005984	Elevated maternal serum alpha-fetoprotein
4952	OCRL	HP:0100530	Abnormal calcium-phosphate regulating hormone level
4952	OCRL	HP:0100543	Cognitive impairment
4952	OCRL	HP:0002093	Respiratory insufficiency
4952	OCRL	HP:0100512	Low levels of vitamin D
4952	OCRL	HP:0002049	Proximal renal tubular acidosis
4952	OCRL	HP:0100589	Urogenital fistula
4952	OCRL	HP:0005930	Abnormal epiphysis morphology
4952	OCRL	HP:0010471	Oligosacchariduria
4952	OCRL	HP:0009473	Joint contracture of the hand
4952	OCRL	HP:0002151	Increased serum lactate
4952	OCRL	HP:0002150	Hypercalciuria
4952	OCRL	HP:0002148	Hypophosphatemia
4952	OCRL	HP:0002119	Ventriculomegaly
4952	OCRL	HP:0002169	Clonus
4952	OCRL	HP:0100490	Camptodactyly of finger
4952	OCRL	HP:0100493	Hypoammonemia
4952	OCRL	HP:0010562	Keloids
4952	OCRL	HP:0003577	Congenital onset
4952	OCRL	HP:0100716	Self-injurious behavior
4952	OCRL	HP:0002213	Fine hair
4952	OCRL	HP:0002209	Sparse scalp hair
4952	OCRL	HP:0002205	Recurrent respiratory infections
4952	OCRL	HP:0100750	Atelectasis
4952	OCRL	HP:0007018	Attention deficit hyperactivity disorder
4952	OCRL	HP:0002381	Aphasia
4952	OCRL	HP:0002353	EEG abnormality
4952	OCRL	HP:0003646	Bicarbonaturia
4952	OCRL	HP:0010807	Open bite
4952	OCRL	HP:0009804	Tooth agenesis
4952	OCRL	HP:0100612	Odontogenic neoplasm
4952	OCRL	HP:0200042	Skin ulcer
4952	OCRL	HP:0007109	Periventricular cysts
4952	OCRL	HP:0005562	Multiple renal cysts
4952	OCRL	HP:0012622	Chronic kidney disease
4952	OCRL	HP:0000639	Nystagmus
4952	OCRL	HP:0000632	Lacrimation abnormality
4952	OCRL	HP:0000646	Amblyopia
4952	OCRL	HP:0001944	Dehydration
4952	OCRL	HP:0000615	Abnormal pupil morphology
4952	OCRL	HP:0001903	Anemia
4952	OCRL	HP:0000682	Abnormal dental enamel morphology
4952	OCRL	HP:0000684	Delayed eruption of teeth
4952	OCRL	HP:0011342	Mild global developmental delay
4952	OCRL	HP:0000679	Taurodontia
4952	OCRL	HP:0000678	Dental crowding
4952	OCRL	HP:0000670	Carious teeth
4952	OCRL	HP:0001994	Renal Fanconi syndrome
4952	OCRL	HP:0004322	Short stature
4952	OCRL	HP:0031956	Elevated circulating aspartate aminotransferase concentration
4952	OCRL	HP:0031964	Elevated circulating alanine aminotransferase concentration
4952	OCRL	HP:0005692	Joint hyperflexibility
4952	OCRL	HP:0000772	Abnormal rib morphology
4952	OCRL	HP:0000739	Anxiety
4952	OCRL	HP:0000733	Abnormal repetitive mannerisms
4952	OCRL	HP:0000716	Depression
4952	OCRL	HP:0000718	Aggressive behavior
4952	OCRL	HP:0000722	Compulsive behaviors
4952	OCRL	HP:0000704	Periodontitis
4952	OCRL	HP:0011463	Childhood onset
4952	OCRL	HP:0000790	Hematuria
4952	OCRL	HP:0000787	Nephrolithiasis
4952	OCRL	HP:0003109	Hyperphosphaturia
4952	OCRL	HP:0003126	Low-molecular-weight proteinuria
4952	OCRL	HP:0003124	Hypercholesterolemia
4952	OCRL	HP:0000926	Platyspondyly
4952	OCRL	HP:0003148	Elevated serum acid phosphatase
4952	OCRL	HP:0000873	Diabetes insipidus
4952	OCRL	HP:0011527	Lentiglobus
4952	OCRL	HP:0000859	Hyperaldosteronism
4952	OCRL	HP:0000843	Hyperparathyroidism
4952	OCRL	HP:0000823	Delayed puberty
4952	OCRL	HP:0003236	Elevated circulating creatine kinase concentration
4952	OCRL	HP:0000987	Atypical scarring of skin
4952	OCRL	HP:0000944	Abnormal metaphysis morphology
4952	OCRL	HP:0008069	Neoplasm of the skin
4952	OCRL	HP:0000293	Full cheeks
4952	OCRL	HP:0000276	Long face
4952	OCRL	HP:0007731	Chorioretinal dysplasia
4952	OCRL	HP:0002827	Hip dislocation
4952	OCRL	HP:0002808	Kyphosis
4952	OCRL	HP:0000219	Thin upper lip vermilion
4952	OCRL	HP:0000230	Gingivitis
4952	OCRL	HP:0000232	Everted lower lip vermilion
4952	OCRL	HP:0002857	Genu valgum
4952	OCRL	HP:0001522	Death in infancy
4952	OCRL	HP:0001537	Umbilical hernia
4952	OCRL	HP:0001508	Failure to thrive
4952	OCRL	HP:0000389	Chronic otitis media
4952	OCRL	HP:0001608	Abnormality of the voice
4952	OCRL	HP:0002902	Hyponatremia
4952	OCRL	HP:0002900	Hypokalemia
4952	OCRL	HP:0000368	Low-set, posteriorly rotated ears
4952	OCRL	HP:0000343	Long philtrum
4952	OCRL	HP:0002999	Patellar dislocation
4952	OCRL	HP:0000347	Micrognathia
4952	OCRL	HP:0000303	Mandibular prognathia
4952	OCRL	HP:0007957	Corneal opacity
4952	OCRL	HP:0007948	Dense posterior cortical cataract
4952	OCRL	HP:0000486	Strabismus
4952	OCRL	HP:0000490	Deeply set eye
4952	OCRL	HP:0000411	Protruding ear
4952	OCRL	HP:0005469	Flat occiput
4952	OCRL	HP:0000518	Cataract
4952	OCRL	HP:0000519	Developmental cataract
4952	OCRL	HP:0000505	Visual impairment
4952	OCRL	HP:0000501	Glaucoma
4952	OCRL	HP:0000582	Upslanted palpebral fissure
4952	OCRL	HP:0000557	Buphthalmos
4952	OCRL	HP:0000559	Corneal scarring
4952	OCRL	HP:0000568	Microphthalmia
4952	OCRL	HP:0001873	Thrombocytopenia
4953	ODC1	HP:0001182	Tapered finger
4953	ODC1	HP:0002465	Poor speech
4953	ODC1	HP:0010880	Increased nuchal translucency
4953	ODC1	HP:0001290	Generalized hypotonia
4953	ODC1	HP:0001250	Seizure
4953	ODC1	HP:0001263	Global developmental delay
4953	ODC1	HP:0001257	Spasticity
4953	ODC1	HP:0008689	Bilateral cryptorchidism
4953	ODC1	HP:0002514	Cerebral calcification
4953	ODC1	HP:0000023	Inguinal hernia
4953	ODC1	HP:0000028	Cryptorchidism
4953	ODC1	HP:0008872	Feeding difficulties in infancy
4953	ODC1	HP:0001344	Absent speech
4953	ODC1	HP:0000006	Autosomal dominant inheritance
4953	ODC1	HP:0001319	Neonatal hypotonia
4953	ODC1	HP:0032471	Focal polymicrogyria
4953	ODC1	HP:0002608	Celiac disease
4953	ODC1	HP:0001488	Bilateral ptosis
4953	ODC1	HP:0410018	Recurrent ear infections
4953	ODC1	HP:0002003	Large forehead
4953	ODC1	HP:0002099	Asthma
4953	ODC1	HP:0002061	Lower limb spasticity
4953	ODC1	HP:0002195	Dysgenesis of the cerebellar vermis
4953	ODC1	HP:0100716	Self-injurious behavior
4953	ODC1	HP:0002223	Absent eyebrow
4953	ODC1	HP:0002209	Sparse scalp hair
4953	ODC1	HP:0007018	Attention deficit hyperactivity disorder
4953	ODC1	HP:0007082	Dilated third ventricle
4953	ODC1	HP:0007074	Thick corpus callosum
4953	ODC1	HP:0002334	Abnormal cerebellar vermis morphology
4953	ODC1	HP:0032152	Keratosis pilaris
4953	ODC1	HP:0007109	Periventricular cysts
4953	ODC1	HP:0004209	Clinodactyly of the 5th finger
4953	ODC1	HP:0001943	Hypoglycemia
4953	ODC1	HP:0000653	Sparse eyelashes
4953	ODC1	HP:0011309	Tapered toe
4953	ODC1	HP:0006989	Dysplastic corpus callosum
4953	ODC1	HP:0006956	Lateral ventricle dilatation
4953	ODC1	HP:0031936	Delayed ability to walk
4953	ODC1	HP:0000750	Delayed speech and language development
4953	ODC1	HP:0000718	Aggressive behavior
4953	ODC1	HP:0000708	Atypical behavior
4953	ODC1	HP:0000902	Rib fusion
4953	ODC1	HP:0004488	Macrocephaly at birth
4953	ODC1	HP:0030890	Hyperintensity of cerebral white matter on MRI
4953	ODC1	HP:0045075	Sparse eyebrow
4953	ODC1	HP:0000958	Dry skin
4953	ODC1	HP:0000960	Sacral dimple
4953	ODC1	HP:0000278	Retrognathia
4953	ODC1	HP:0001596	Alopecia
4953	ODC1	HP:0000256	Macrocephaly
4953	ODC1	HP:0000219	Thin upper lip vermilion
4953	ODC1	HP:0000218	High palate
4953	ODC1	HP:0001561	Polyhydramnios
4953	ODC1	HP:0032671	Non-convulsive status epilepticus without coma
4953	ODC1	HP:0001558	Decreased fetal movement
4953	ODC1	HP:0001520	Large for gestational age
4953	ODC1	HP:0000384	Preauricular skin tag
4953	ODC1	HP:0000378	Cupped ear
4953	ODC1	HP:0002904	Hyperbilirubinemia
4953	ODC1	HP:0000337	Broad forehead
4953	ODC1	HP:0000348	High forehead
4953	ODC1	HP:0000316	Hypertelorism
4953	ODC1	HP:0000407	Sensorineural hearing impairment
4953	ODC1	HP:0000400	Macrotia
4953	ODC1	HP:0000494	Downslanted palpebral fissures
4953	ODC1	HP:0000490	Deeply set eye
4953	ODC1	HP:0001792	Small nail
4953	ODC1	HP:0012450	Chronic constipation
4953	ODC1	HP:0000414	Bulbous nose
4953	ODC1	HP:0011276	Vascular skin abnormality
4953	ODC1	HP:0000508	Ptosis
4953	ODC1	HP:0001800	Hypoplastic toenails
4953	ODC1	HP:0000581	Blepharophimosis
4953	ODC1	HP:0000561	Absent eyelashes
4953	ODC1	HP:0012520	Dilation of Virchow-Robin spaces
4967	OGDH	HP:0003700	Generalized amyotrophy
4967	OGDH	HP:0001276	Hypertonia
4967	OGDH	HP:0001270	Motor delay
4967	OGDH	HP:0001252	Hypotonia
4967	OGDH	HP:0001251	Ataxia
4967	OGDH	HP:0001263	Global developmental delay
4967	OGDH	HP:0002527	Falls
4967	OGDH	HP:0003819	Death in childhood
4967	OGDH	HP:0001332	Dystonia
4967	OGDH	HP:0000007	Autosomal recessive inheritance
4967	OGDH	HP:0001310	Dysmetria
4967	OGDH	HP:0002069	Bilateral tonic-clonic seizure
4967	OGDH	HP:0002066	Gait ataxia
4967	OGDH	HP:0002063	Rigidity
4967	OGDH	HP:0002151	Increased serum lactate
4967	OGDH	HP:0002119	Ventriculomegaly
4967	OGDH	HP:0002194	Delayed gross motor development
4967	OGDH	HP:0003593	Infantile onset
4967	OGDH	HP:0002317	Unsteady gait
4967	OGDH	HP:0004902	Congenital lactic acidosis
4967	OGDH	HP:0001942	Metabolic acidosis
4967	OGDH	HP:0004322	Short stature
4967	OGDH	HP:0100022	Abnormality of movement
4967	OGDH	HP:0000750	Delayed speech and language development
4967	OGDH	HP:0000816	Abnormality of Krebs cycle metabolism
4967	OGDH	HP:0010286	Abnormal salivary gland morphology
4967	OGDH	HP:0003202	Skeletal muscle atrophy
4967	OGDH	HP:0000238	Hydrocephalus
4967	OGDH	HP:0012401	Abnormal urine alpha-ketoglutarate concentration
4968	OGG1	HP:0003745	Sporadic
4968	OGG1	HP:0005584	Renal cell carcinoma
4976	OPA1	HP:0001133	Constriction of peripheral visual field
4976	OPA1	HP:0009921	Duane anomaly
4976	OPA1	HP:0003737	Mitochondrial myopathy
4976	OPA1	HP:0003701	Proximal muscle weakness
4976	OPA1	HP:0001276	Hypertonia
4976	OPA1	HP:0001272	Cerebellar atrophy
4976	OPA1	HP:0001271	Polyneuropathy
4976	OPA1	HP:0001270	Motor delay
4976	OPA1	HP:0001269	Hemiparesis
4976	OPA1	HP:0001288	Gait disturbance
4976	OPA1	HP:0001284	Areflexia
4976	OPA1	HP:0001250	Seizure
4976	OPA1	HP:0001251	Ataxia
4976	OPA1	HP:0001249	Intellectual disability
4976	OPA1	HP:0001260	Dysarthria
4976	OPA1	HP:0001263	Global developmental delay
4976	OPA1	HP:0001258	Spastic paraplegia
4976	OPA1	HP:0001257	Spasticity
4976	OPA1	HP:0007371	Corpus callosum atrophy
4976	OPA1	HP:0007366	Atrophy/Degeneration affecting the brainstem
4976	OPA1	HP:0002518	Abnormal periventricular white matter morphology
4976	OPA1	HP:0003829	Typified by incomplete penetrance
4976	OPA1	HP:0001347	Hyperreflexia
4976	OPA1	HP:0008872	Feeding difficulties in infancy
4976	OPA1	HP:0000007	Autosomal recessive inheritance
4976	OPA1	HP:0001337	Tremor
4976	OPA1	HP:0000006	Autosomal dominant inheritance
4976	OPA1	HP:0001310	Dysmetria
4976	OPA1	HP:0001488	Bilateral ptosis
4976	OPA1	HP:0000135	Hypogonadism
4976	OPA1	HP:0007663	Reduced visual acuity
4976	OPA1	HP:0007641	Dyschromatopsia
4976	OPA1	HP:0008936	Axial hypotonia
4976	OPA1	HP:0003325	Limb-girdle muscle weakness
4976	OPA1	HP:0003326	Myalgia
4976	OPA1	HP:0002015	Dysphagia
4976	OPA1	HP:0100543	Cognitive impairment
4976	OPA1	HP:0003390	Sensory axonal neuropathy
4976	OPA1	HP:0002078	Truncal ataxia
4976	OPA1	HP:0002076	Migraine
4976	OPA1	HP:0003487	Babinski sign
4976	OPA1	HP:0002135	Basal ganglia calcification
4976	OPA1	HP:0003444	EMG: chronic denervation signs
4976	OPA1	HP:0003438	Absent Achilles reflex
4976	OPA1	HP:0002104	Apnea
4976	OPA1	HP:0002191	Progressive spasticity
4976	OPA1	HP:0002179	Opisthotonus
4976	OPA1	HP:0003593	Infantile onset
4976	OPA1	HP:0003587	Insidious onset
4976	OPA1	HP:0003557	Increased variability in muscle fiber diameter
4976	OPA1	HP:0007002	Motor axonal neuropathy
4976	OPA1	HP:0011968	Feeding difficulties
4976	OPA1	HP:0003691	Scapular winging
4976	OPA1	HP:0002359	Frequent falls
4976	OPA1	HP:0003676	Progressive
4976	OPA1	HP:0002317	Unsteady gait
4976	OPA1	HP:0009830	Peripheral neuropathy
4976	OPA1	HP:0020119	Abnormal retinal nerve fiber layer morphology
4976	OPA1	HP:0007141	Sensorimotor neuropathy
4976	OPA1	HP:0030515	Moderately reduced visual acuity
4976	OPA1	HP:0006855	Cerebellar vermis atrophy
4976	OPA1	HP:0000639	Nystagmus
4976	OPA1	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials
4976	OPA1	HP:0000649	Abnormality of visual evoked potentials
4976	OPA1	HP:0000648	Optic atrophy
4976	OPA1	HP:0000642	Red-green dyschromatopsia
4976	OPA1	HP:0001972	Macrocytic anemia
4976	OPA1	HP:0000618	Blindness
4976	OPA1	HP:0000602	Ophthalmoplegia
4976	OPA1	HP:0000603	Central scotoma
4976	OPA1	HP:0000666	Horizontal nystagmus
4976	OPA1	HP:0006970	Periventricular leukomalacia
4976	OPA1	HP:0006958	Abnormal auditory evoked potentials
4976	OPA1	HP:0003089	Hamstring contractures
4976	OPA1	HP:0011410	Caesarian section
4976	OPA1	HP:0012736	Profound global developmental delay
4976	OPA1	HP:0000763	Sensory neuropathy
4976	OPA1	HP:0000738	Hallucinations
4976	OPA1	HP:0000726	Dementia
4976	OPA1	HP:0011463	Childhood onset
4976	OPA1	HP:0012758	Neurodevelopmental delay
4976	OPA1	HP:0003198	Myopathy
4976	OPA1	HP:0004463	Absent brainstem auditory responses
4976	OPA1	HP:0000819	Diabetes mellitus
4976	OPA1	HP:0000821	Hypothyroidism
4976	OPA1	HP:0003202	Skeletal muscle atrophy
4976	OPA1	HP:0034311	Hypoplastic optic chiasm
4976	OPA1	HP:0000980	Pallor
4976	OPA1	HP:0100285	EMG: impaired neuromuscular transmission
4976	OPA1	HP:0006366	Adductor longus contractures
4976	OPA1	HP:0025514	Morning glory anomaly
4976	OPA1	HP:0012378	Fatigue
4976	OPA1	HP:0001612	Weak cry
4976	OPA1	HP:0001623	Breech presentation
4976	OPA1	HP:0001639	Hypertrophic cardiomyopathy
4976	OPA1	HP:0001635	Congestive heart failure
4976	OPA1	HP:0001638	Cardiomyopathy
4976	OPA1	HP:0030319	Weakness of facial musculature
4976	OPA1	HP:0000408	Progressive sensorineural hearing impairment
4976	OPA1	HP:0000407	Sensorineural hearing impairment
4976	OPA1	HP:0000486	Strabismus
4976	OPA1	HP:0012450	Chronic constipation
4976	OPA1	HP:0001771	Achilles tendon contracture
4976	OPA1	HP:0001761	Pes cavus
4976	OPA1	HP:0000518	Cataract
4976	OPA1	HP:0000529	Progressive visual loss
4976	OPA1	HP:0000508	Ptosis
4976	OPA1	HP:0000505	Visual impairment
4976	OPA1	HP:0000576	Centrocecal scotoma
4976	OPA1	HP:0000590	Progressive external ophthalmoplegia
4976	OPA1	HP:0000552	Tritanomaly
4976	OPA1	HP:0000551	Color vision defect
4976	OPA1	HP:0012511	Temporal optic disc pallor
4976	OPA1	HP:0000546	Retinal degeneration
4978	OPCML	HP:0000006	Autosomal dominant inheritance
4978	OPCML	HP:0001428	Somatic mutation
4978	OPCML	HP:0100621	Dysgerminoma
4978	OPCML	HP:0003002	Breast carcinoma
4978	OPCML	HP:0006774	Ovarian papillary adenocarcinoma
4982	TNFRSF11B	HP:0001102	Angioid streaks of the fundus
4982	TNFRSF11B	HP:0001270	Motor delay
4982	TNFRSF11B	HP:0001250	Seizure
4982	TNFRSF11B	HP:0001252	Hypotonia
4982	TNFRSF11B	HP:0003828	Variable expressivity
4982	TNFRSF11B	HP:0031013	Ankylosis
4982	TNFRSF11B	HP:0001376	Limitation of joint mobility
4982	TNFRSF11B	HP:0001373	Joint dislocation
4982	TNFRSF11B	HP:0001369	Arthritis
4982	TNFRSF11B	HP:0001386	Joint swelling
4982	TNFRSF11B	HP:0002684	Thickened calvaria
4982	TNFRSF11B	HP:0001324	Muscle weakness
4982	TNFRSF11B	HP:0000007	Autosomal recessive inheritance
4982	TNFRSF11B	HP:0000164	Abnormality of the dentition
4982	TNFRSF11B	HP:0001482	Subcutaneous nodule
4982	TNFRSF11B	HP:0002757	Recurrent fractures
4982	TNFRSF11B	HP:0002758	Osteoarthritis
4982	TNFRSF11B	HP:0100593	Calcification of cartilage
4982	TNFRSF11B	HP:0002150	Hypercalciuria
4982	TNFRSF11B	HP:0002149	Hyperuricemia
4982	TNFRSF11B	HP:0002194	Delayed gross motor development
4982	TNFRSF11B	HP:0003593	Infantile onset
4982	TNFRSF11B	HP:0033355	Increased urine deoxypyridinoline level
4982	TNFRSF11B	HP:0003676	Progressive
4982	TNFRSF11B	HP:0100670	Coarse metaphyseal trabecularization
4982	TNFRSF11B	HP:0200056	Macular scar
4982	TNFRSF11B	HP:0000648	Optic atrophy
4982	TNFRSF11B	HP:0004322	Short stature
4982	TNFRSF11B	HP:0003080	Hydroxyprolinuria
4982	TNFRSF11B	HP:0000768	Pectus carinatum
4982	TNFRSF11B	HP:0004437	Cranial hyperostosis
4982	TNFRSF11B	HP:0003155	Elevated circulating alkaline phosphatase concentration
4982	TNFRSF11B	HP:0004482	Relative macrocephaly
4982	TNFRSF11B	HP:0005792	Short humerus
4982	TNFRSF11B	HP:0003148	Elevated serum acid phosphatase
4982	TNFRSF11B	HP:0000889	Abnormal clavicle morphology
4982	TNFRSF11B	HP:0000822	Hypertension
4982	TNFRSF11B	HP:0003260	Hydroxyprolinemia
4982	TNFRSF11B	HP:0000995	Melanocytic nevus
4982	TNFRSF11B	HP:0000939	Osteoporosis
4982	TNFRSF11B	HP:0000938	Osteopenia
4982	TNFRSF11B	HP:0000934	Chondrocalcinosis
4982	TNFRSF11B	HP:0007703	Abnormality of retinal pigmentation
4982	TNFRSF11B	HP:0000256	Macrocephaly
4982	TNFRSF11B	HP:0005108	Abnormal intervertebral disk morphology
4982	TNFRSF11B	HP:0005090	Lateral femoral bowing
4982	TNFRSF11B	HP:0002829	Arthralgia
4982	TNFRSF11B	HP:0002808	Kyphosis
4982	TNFRSF11B	HP:0001552	Barrel-shaped chest
4982	TNFRSF11B	HP:0001508	Failure to thrive
4982	TNFRSF11B	HP:0002905	Hyperphosphatemia
4982	TNFRSF11B	HP:0006480	Premature loss of teeth
4982	TNFRSF11B	HP:0006487	Bowing of the long bones
4982	TNFRSF11B	HP:0000365	Hearing impairment
4982	TNFRSF11B	HP:0011001	Increased bone mineral density
4982	TNFRSF11B	HP:0000407	Sensorineural hearing impairment
4982	TNFRSF11B	HP:0000488	Retinopathy
4982	TNFRSF11B	HP:0000546	Retinal degeneration
4983	OPHN1	HP:0002465	Poor speech
4983	OPHN1	HP:0010864	Intellectual disability, severe
4983	OPHN1	HP:0001290	Generalized hypotonia
4983	OPHN1	HP:0001250	Seizure
4983	OPHN1	HP:0001252	Hypotonia
4983	OPHN1	HP:0001251	Ataxia
4983	OPHN1	HP:0001249	Intellectual disability
4983	OPHN1	HP:0001263	Global developmental delay
4983	OPHN1	HP:0001257	Spasticity
4983	OPHN1	HP:0000046	Small scrotum
4983	OPHN1	HP:0025336	Delayed ability to sit
4983	OPHN1	HP:0000054	Micropenis
4983	OPHN1	HP:0000028	Cryptorchidism
4983	OPHN1	HP:0001344	Absent speech
4983	OPHN1	HP:0001320	Cerebellar vermis hypoplasia
4983	OPHN1	HP:0001321	Cerebellar hypoplasia
4983	OPHN1	HP:0001419	X-linked recessive inheritance
4983	OPHN1	HP:0002007	Frontal bossing
4983	OPHN1	HP:0002080	Intention tremor
4983	OPHN1	HP:0002066	Gait ataxia
4983	OPHN1	HP:0002123	Generalized myoclonic seizure
4983	OPHN1	HP:0002119	Ventriculomegaly
4983	OPHN1	HP:0002167	Abnormality of speech or vocalization
4983	OPHN1	HP:0002172	Postural instability
4983	OPHN1	HP:0003593	Infantile onset
4983	OPHN1	HP:0002280	Enlarged cisterna magna
4983	OPHN1	HP:0007018	Attention deficit hyperactivity disorder
4983	OPHN1	HP:0007065	Disorganization of the anterior cerebellar vermis
4983	OPHN1	HP:0002384	Focal impaired awareness seizure
4983	OPHN1	HP:0002342	Intellectual disability, moderate
4983	OPHN1	HP:0002340	Caudate atrophy
4983	OPHN1	HP:0007112	Temporal cortical atrophy
4983	OPHN1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
4983	OPHN1	HP:0000639	Nystagmus
4983	OPHN1	HP:0000601	Hypotelorism
4983	OPHN1	HP:0001999	Abnormal facial shape
4983	OPHN1	HP:0006951	Retrocerebellar cyst
4983	OPHN1	HP:0006913	Frontal cortical atrophy
4983	OPHN1	HP:0031936	Delayed ability to walk
4983	OPHN1	HP:0400000	Tall chin
4983	OPHN1	HP:0000752	Hyperactivity
4983	OPHN1	HP:0000735	Impaired social interactions
4983	OPHN1	HP:0000744	Low frustration tolerance
4983	OPHN1	HP:0000742	Self-mutilation
4983	OPHN1	HP:0000729	Autistic behavior
4983	OPHN1	HP:0003189	Long nose
4983	OPHN1	HP:0000817	Reduced eye contact
4983	OPHN1	HP:0000256	Macrocephaly
4983	OPHN1	HP:0000276	Long face
4983	OPHN1	HP:0000219	Thin upper lip vermilion
4983	OPHN1	HP:0000336	Prominent supraorbital ridges
4983	OPHN1	HP:0000322	Short philtrum
4983	OPHN1	HP:0002951	Partial absence of cerebellar vermis
4983	OPHN1	HP:0000303	Mandibular prognathia
4983	OPHN1	HP:0000400	Macrotia
4983	OPHN1	HP:0000486	Strabismus
4983	OPHN1	HP:0000490	Deeply set eye
4983	OPHN1	HP:0030260	Microphallus
4983	OPHN1	HP:0000448	Prominent nose
4983	OPHN1	HP:0000431	Wide nasal bridge
4983	OPHN1	HP:0011220	Prominent forehead
4990	SIX6	HP:0002444	Hypothalamic hamartoma
4990	SIX6	HP:0008619	Bilateral sensorineural hearing impairment
4990	SIX6	HP:0001290	Generalized hypotonia
4990	SIX6	HP:0001274	Agenesis of corpus callosum
4990	SIX6	HP:0001252	Hypotonia
4990	SIX6	HP:0001264	Spastic diplegia
4990	SIX6	HP:0001263	Global developmental delay
4990	SIX6	HP:0007401	Macular atrophy
4990	SIX6	HP:0002510	Spastic tetraplegia
4990	SIX6	HP:0000044	Hypogonadotropic hypogonadism
4990	SIX6	HP:0000054	Micropenis
4990	SIX6	HP:0000047	Hypospadias
4990	SIX6	HP:0000028	Cryptorchidism
4990	SIX6	HP:0008897	Postnatal growth retardation
4990	SIX6	HP:0001328	Specific learning disability
4990	SIX6	HP:0000007	Autosomal recessive inheritance
4990	SIX6	HP:0000006	Autosomal dominant inheritance
4990	SIX6	HP:0002032	Esophageal atresia
4990	SIX6	HP:0002007	Frontal bossing
4990	SIX6	HP:0003316	Butterfly vertebrae
4990	SIX6	HP:0002079	Hypoplasia of the corpus callosum
4990	SIX6	HP:0003577	Congenital onset
4990	SIX6	HP:0008417	Vertebral hypoplasia
4990	SIX6	HP:0010627	Anterior pituitary hypoplasia
4990	SIX6	HP:0008499	High hypermetropia
4990	SIX6	HP:0000639	Nystagmus
4990	SIX6	HP:0000647	Sclerocornea
4990	SIX6	HP:0000616	Miosis
4990	SIX6	HP:0000612	Iris coloboma
4990	SIX6	HP:0000610	Abnormal choroid morphology
4990	SIX6	HP:0000609	Optic nerve hypoplasia
4990	SIX6	HP:0000666	Horizontal nystagmus
4990	SIX6	HP:0004322	Short stature
4990	SIX6	HP:0000921	Missing ribs
4990	SIX6	HP:0000902	Rib fusion
4990	SIX6	HP:0005815	Supernumerary ribs
4990	SIX6	HP:0007703	Abnormality of retinal pigmentation
4990	SIX6	HP:0000252	Microcephaly
4990	SIX6	HP:0002937	Hemivertebrae
4990	SIX6	HP:0002948	Vertebral fusion
4990	SIX6	HP:0001643	Patent ductus arteriosus
4990	SIX6	HP:0001629	Ventricular septal defect
4990	SIX6	HP:0000407	Sensorineural hearing impairment
4990	SIX6	HP:0000486	Strabismus
4990	SIX6	HP:0000518	Cataract
4990	SIX6	HP:0000528	Anophthalmia
4990	SIX6	HP:0000501	Glaucoma
4990	SIX6	HP:0000589	Coloboma
4990	SIX6	HP:0000557	Buphthalmos
4990	SIX6	HP:0000559	Corneal scarring
4990	SIX6	HP:0000556	Retinal dystrophy
4990	SIX6	HP:0000568	Microphthalmia
4990	SIX6	HP:0000567	Chorioretinal coloboma
4990	SIX6	HP:0000541	Retinal detachment
4990	SIX6	HP:0012521	Optic nerve aplasia
4998	ORC1	HP:0009939	Mandibular aplasia
4998	ORC1	HP:0010886	Osteochondritis dissecans
4998	ORC1	HP:0009892	Anotia
4998	ORC1	HP:0008551	Microtia
4998	ORC1	HP:0001256	Intellectual disability, mild
4998	ORC1	HP:0001249	Intellectual disability
4998	ORC1	HP:0001263	Global developmental delay
4998	ORC1	HP:0008736	Hypoplasia of penis
4998	ORC1	HP:0008665	Clitoral hypertrophy
4998	ORC1	HP:0000064	Hypoplastic labia minora
4998	ORC1	HP:0000060	Clitoral hypoplasia
4998	ORC1	HP:0000059	Hypoplastic labia majora
4998	ORC1	HP:0001371	Flexion contracture
4998	ORC1	HP:0000039	Epispadias
4998	ORC1	HP:0000054	Micropenis
4998	ORC1	HP:0001388	Joint laxity
4998	ORC1	HP:0000047	Hypospadias
4998	ORC1	HP:0000049	Shawl scrotum
4998	ORC1	HP:0001363	Craniosynostosis
4998	ORC1	HP:0000028	Cryptorchidism
4998	ORC1	HP:0008872	Feeding difficulties in infancy
4998	ORC1	HP:0001328	Specific learning disability
4998	ORC1	HP:0002673	Coxa valga
4998	ORC1	HP:0000007	Autosomal recessive inheritance
4998	ORC1	HP:0002644	Abnormal pelvic girdle bone morphology
4998	ORC1	HP:0000193	Bifid uvula
4998	ORC1	HP:0000160	Narrow mouth
4998	ORC1	HP:0000176	Submucous cleft hard palate
4998	ORC1	HP:0000175	Cleft palate
4998	ORC1	HP:0002705	High, narrow palate
4998	ORC1	HP:0002750	Delayed skeletal maturation
4998	ORC1	HP:0002020	Gastroesophageal reflux
4998	ORC1	HP:0002007	Frontal bossing
4998	ORC1	HP:0002098	Respiratory distress
4998	ORC1	HP:0002097	Emphysema
4998	ORC1	HP:0002094	Dyspnea
4998	ORC1	HP:0005930	Abnormal epiphysis morphology
4998	ORC1	HP:0009473	Joint contracture of the hand
4998	ORC1	HP:0100490	Camptodactyly of finger
4998	ORC1	HP:0010554	Cutaneous finger syndactyly
4998	ORC1	HP:0003577	Congenital onset
4998	ORC1	HP:0003561	Birth length less than 3rd percentile
4998	ORC1	HP:0100783	Breast aplasia
4998	ORC1	HP:0011968	Feeding difficulties
4998	ORC1	HP:0003510	Severe short stature
4998	ORC1	HP:0200055	Small hand
4998	ORC1	HP:0004209	Clinodactyly of the 5th finger
4998	ORC1	HP:0004279	Short palm
4998	ORC1	HP:0000691	Microdontia
4998	ORC1	HP:0005692	Joint hyperflexibility
4998	ORC1	HP:0003042	Elbow dislocation
4998	ORC1	HP:0012745	Short palpebral fissure
4998	ORC1	HP:0000772	Abnormal rib morphology
4998	ORC1	HP:0000768	Pectus carinatum
4998	ORC1	HP:0000773	Short ribs
4998	ORC1	HP:0003100	Slender long bone
4998	ORC1	HP:0000911	Flat glenoid fossa
4998	ORC1	HP:0003187	Breast hypoplasia
4998	ORC1	HP:0000883	Thin ribs
4998	ORC1	HP:0000895	Lateral clavicle hook
4998	ORC1	HP:0000963	Thin skin
4998	ORC1	HP:0000278	Retrognathia
4998	ORC1	HP:0006443	Patellar aplasia
4998	ORC1	HP:0002816	Genu recurvatum
4998	ORC1	HP:0000237	Small anterior fontanelle
4998	ORC1	HP:0000252	Microcephaly
4998	ORC1	HP:0001547	Abnormal rib cage morphology
4998	ORC1	HP:0002878	Respiratory failure
4998	ORC1	HP:0000218	High palate
4998	ORC1	HP:0002857	Genu valgum
4998	ORC1	HP:0001522	Death in infancy
4998	ORC1	HP:0001508	Failure to thrive
4998	ORC1	HP:0001518	Small for gestational age
4998	ORC1	HP:0001511	Intrauterine growth retardation
4998	ORC1	HP:0001510	Growth delay
4998	ORC1	HP:0012385	Camptodactyly
4998	ORC1	HP:0006591	Absent glenoid fossa
4998	ORC1	HP:0002937	Hemivertebrae
4998	ORC1	HP:0006498	Aplasia/Hypoplasia of the patella
4998	ORC1	HP:0000365	Hearing impairment
4998	ORC1	HP:0000356	Abnormality of the outer ear
4998	ORC1	HP:0000358	Posteriorly rotated ears
4998	ORC1	HP:0000376	Incomplete partition of the cochlea type II
4998	ORC1	HP:0000369	Low-set ears
4998	ORC1	HP:0000347	Micrognathia
4998	ORC1	HP:0000327	Hypoplasia of the maxilla
4998	ORC1	HP:0001623	Breech presentation
4998	ORC1	HP:0002970	Genu varum
4998	ORC1	HP:0006628	Absent sternal ossification
4998	ORC1	HP:0006660	Aplastic clavicle
4998	ORC1	HP:0000486	Strabismus
4998	ORC1	HP:0012471	Thick vermilion border
4998	ORC1	HP:0001795	Hyperconvex nail
4998	ORC1	HP:0000413	Atresia of the external auditory canal
4998	ORC1	HP:0001762	Talipes equinovarus
4998	ORC1	HP:0011267	Microtia, third degree
4998	ORC1	HP:0000527	Long eyelashes
4998	ORC1	HP:0000581	Blepharophimosis
5000	ORC4	HP:0009939	Mandibular aplasia
5000	ORC4	HP:0009892	Anotia
5000	ORC4	HP:0008551	Microtia
5000	ORC4	HP:0001249	Intellectual disability
5000	ORC4	HP:0001263	Global developmental delay
5000	ORC4	HP:0008736	Hypoplasia of penis
5000	ORC4	HP:0008665	Clitoral hypertrophy
5000	ORC4	HP:0000066	Labial hypoplasia
5000	ORC4	HP:0000064	Hypoplastic labia minora
5000	ORC4	HP:0000060	Clitoral hypoplasia
5000	ORC4	HP:0000059	Hypoplastic labia majora
5000	ORC4	HP:0000039	Epispadias
5000	ORC4	HP:0001382	Joint hypermobility
5000	ORC4	HP:0000047	Hypospadias
5000	ORC4	HP:0001363	Craniosynostosis
5000	ORC4	HP:0000028	Cryptorchidism
5000	ORC4	HP:0001328	Specific learning disability
5000	ORC4	HP:0000007	Autosomal recessive inheritance
5000	ORC4	HP:0000193	Bifid uvula
5000	ORC4	HP:0000160	Narrow mouth
5000	ORC4	HP:0000176	Submucous cleft hard palate
5000	ORC4	HP:0000175	Cleft palate
5000	ORC4	HP:0002705	High, narrow palate
5000	ORC4	HP:0002780	Bronchomalacia
5000	ORC4	HP:0002779	Tracheomalacia
5000	ORC4	HP:0002750	Delayed skeletal maturation
5000	ORC4	HP:0002020	Gastroesophageal reflux
5000	ORC4	HP:0002098	Respiratory distress
5000	ORC4	HP:0002094	Dyspnea
5000	ORC4	HP:0005930	Abnormal epiphysis morphology
5000	ORC4	HP:0100490	Camptodactyly of finger
5000	ORC4	HP:0003577	Congenital onset
5000	ORC4	HP:0003561	Birth length less than 3rd percentile
5000	ORC4	HP:0100783	Breast aplasia
5000	ORC4	HP:0011968	Feeding difficulties
5000	ORC4	HP:0003510	Severe short stature
5000	ORC4	HP:0004209	Clinodactyly of the 5th finger
5000	ORC4	HP:0004322	Short stature
5000	ORC4	HP:0005692	Joint hyperflexibility
5000	ORC4	HP:0003042	Elbow dislocation
5000	ORC4	HP:0000772	Abnormal rib morphology
5000	ORC4	HP:0003100	Slender long bone
5000	ORC4	HP:0003187	Breast hypoplasia
5000	ORC4	HP:0000278	Retrognathia
5000	ORC4	HP:0000268	Dolichocephaly
5000	ORC4	HP:0006443	Patellar aplasia
5000	ORC4	HP:0000252	Microcephaly
5000	ORC4	HP:0002878	Respiratory failure
5000	ORC4	HP:0001508	Failure to thrive
5000	ORC4	HP:0001511	Intrauterine growth retardation
5000	ORC4	HP:0001510	Growth delay
5000	ORC4	HP:0012385	Camptodactyly
5000	ORC4	HP:0000377	Abnormal pinna morphology
5000	ORC4	HP:0000365	Hearing impairment
5000	ORC4	HP:0000356	Abnormality of the outer ear
5000	ORC4	HP:0000358	Posteriorly rotated ears
5000	ORC4	HP:0000369	Low-set ears
5000	ORC4	HP:0000347	Micrognathia
5000	ORC4	HP:0000319	Smooth philtrum
5000	ORC4	HP:0000327	Hypoplasia of the maxilla
5000	ORC4	HP:0001620	High pitched voice
5000	ORC4	HP:0006660	Aplastic clavicle
5000	ORC4	HP:0012471	Thick vermilion border
5000	ORC4	HP:0000413	Atresia of the external auditory canal
5000	ORC4	HP:0000430	Underdeveloped nasal alae
5000	ORC4	HP:0011267	Microtia, third degree
5002	SLC22A18	HP:0000007	Autosomal recessive inheritance
5002	SLC22A18	HP:0000006	Autosomal dominant inheritance
5002	SLC22A18	HP:0001428	Somatic mutation
5002	SLC22A18	HP:0003002	Breast carcinoma
5002	SLC22A18	HP:0030078	Lung adenocarcinoma
5002	SLC22A18	HP:0006519	Alveolar cell carcinoma
5002	SLC22A18	HP:0006743	Embryonal rhabdomyosarcoma
5002	SLC22A18	HP:0030358	Non-small cell lung carcinoma
5009	OTC	HP:0001297	Stroke
5009	OTC	HP:0001254	Lethargy
5009	OTC	HP:0001250	Seizure
5009	OTC	HP:0001251	Ataxia
5009	OTC	HP:0001249	Intellectual disability
5009	OTC	HP:0001263	Global developmental delay
5009	OTC	HP:0001259	Coma
5009	OTC	HP:0001399	Hepatic failure
5009	OTC	HP:0001419	X-linked recessive inheritance
5009	OTC	HP:0003355	Aminoaciduria
5009	OTC	HP:0002021	Pyloric stenosis
5009	OTC	HP:0002027	Abdominal pain
5009	OTC	HP:0002013	Vomiting
5009	OTC	HP:0002038	Protein avoidance
5009	OTC	HP:0033139	Elevated circulating uracil concentration
5009	OTC	HP:0008151	Prolonged prothrombin time
5009	OTC	HP:0002131	Episodic ataxia
5009	OTC	HP:0002181	Cerebral edema
5009	OTC	HP:0003593	Infantile onset
5009	OTC	HP:0003572	Low plasma citrulline
5009	OTC	HP:0003581	Adult onset
5009	OTC	HP:0003623	Neonatal onset
5009	OTC	HP:0003621	Juvenile onset
5009	OTC	HP:0001943	Hypoglycemia
5009	OTC	HP:0001951	Episodic ammonia intoxication
5009	OTC	HP:0001950	Respiratory alkalosis
5009	OTC	HP:0001987	Hyperammonemia
5009	OTC	HP:0031956	Elevated circulating aspartate aminotransferase concentration
5009	OTC	HP:0031964	Elevated circulating alanine aminotransferase concentration
5009	OTC	HP:0000737	Irritability
5009	OTC	HP:0011463	Childhood onset
5009	OTC	HP:0003217	Hyperglutaminemia
5009	OTC	HP:0003218	Oroticaciduria
5009	OTC	HP:0001508	Failure to thrive
5009	OTC	HP:0001744	Splenomegaly
5010	CLDN11	HP:0001260	Dysarthria
5010	CLDN11	HP:0002540	Inability to walk
5010	CLDN11	HP:0001371	Flexion contracture
5010	CLDN11	HP:0025336	Delayed ability to sit
5010	CLDN11	HP:0000006	Autosomal dominant inheritance
5010	CLDN11	HP:0008936	Axial hypotonia
5010	CLDN11	HP:0003487	Babinski sign
5010	CLDN11	HP:0003429	CNS hypomyelination
5010	CLDN11	HP:0003593	Infantile onset
5010	CLDN11	HP:0002395	Lower limb hyperreflexia
5010	CLDN11	HP:0200049	Upper limb hypertonia
5010	CLDN11	HP:0002307	Drooling
5010	CLDN11	HP:0006889	Intellectual disability, borderline
5010	CLDN11	HP:0006895	Lower limb hypertonia
5010	CLDN11	HP:0000639	Nystagmus
5010	CLDN11	HP:0031936	Delayed ability to walk
5010	CLDN11	HP:0000750	Delayed speech and language development
5010	CLDN11	HP:0000483	Astigmatism
5010	CLDN11	HP:0000486	Strabismus
5010	CLDN11	HP:0000470	Short neck
5010	CLDN11	HP:0001763	Pes planus
5010	CLDN11	HP:0000540	Hypermetropia
5010	CLDN11	HP:0000543	Optic disc pallor
5015	OTX2	HP:0009939	Mandibular aplasia
5015	OTX2	HP:0009914	Cyclopia
5015	OTX2	HP:0009924	Aplasia/Hypoplasia involving the nose
5015	OTX2	HP:0009888	Abnormality of secondary sexual hair
5015	OTX2	HP:0001290	Generalized hypotonia
5015	OTX2	HP:0001291	Abnormal cranial nerve morphology
5015	OTX2	HP:0001274	Agenesis of corpus callosum
5015	OTX2	HP:0001250	Seizure
5015	OTX2	HP:0001252	Hypotonia
5015	OTX2	HP:0001249	Intellectual disability
5015	OTX2	HP:0001263	Global developmental delay
5015	OTX2	HP:0002575	Tracheoesophageal fistula
5015	OTX2	HP:0100842	Septo-optic dysplasia
5015	OTX2	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5015	OTX2	HP:0008734	Decreased testicular size
5015	OTX2	HP:0008736	Hypoplasia of penis
5015	OTX2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
5015	OTX2	HP:0031098	Decreased thyroid-stimulating hormone level
5015	OTX2	HP:0000044	Hypogonadotropic hypogonadism
5015	OTX2	HP:0000054	Micropenis
5015	OTX2	HP:0001388	Joint laxity
5015	OTX2	HP:0001360	Holoprosencephaly
5015	OTX2	HP:0000028	Cryptorchidism
5015	OTX2	HP:0001331	Absent septum pellucidum
5015	OTX2	HP:0000006	Autosomal dominant inheritance
5015	OTX2	HP:0002615	Hypotension
5015	OTX2	HP:0000160	Narrow mouth
5015	OTX2	HP:0000175	Cleft palate
5015	OTX2	HP:0000171	Microglossia
5015	OTX2	HP:0000141	Amenorrhea
5015	OTX2	HP:0002750	Delayed skeletal maturation
5015	OTX2	HP:0002019	Constipation
5015	OTX2	HP:0002032	Esophageal atresia
5015	OTX2	HP:0004637	Decreased cervical spine mobility
5015	OTX2	HP:0002098	Respiratory distress
5015	OTX2	HP:0010442	Polydactyly
5015	OTX2	HP:0011755	Ectopic posterior pituitary
5015	OTX2	HP:0011757	Posterior pituitary hypoplasia
5015	OTX2	HP:0100596	Absent nares
5015	OTX2	HP:0008187	Absence of secondary sex characteristics
5015	OTX2	HP:0008245	Pituitary hypothyroidism
5015	OTX2	HP:0011968	Feeding difficulties
5015	OTX2	HP:0010627	Anterior pituitary hypoplasia
5015	OTX2	HP:0010626	Anterior pituitary agenesis
5015	OTX2	HP:0002360	Sleep disturbance
5015	OTX2	HP:0100663	Synotia
5015	OTX2	HP:0008501	Median cleft lip and palate
5015	OTX2	HP:0009800	Maternal diabetes
5015	OTX2	HP:0008499	High hypermetropia
5015	OTX2	HP:0003623	Neonatal onset
5015	OTX2	HP:0000639	Nystagmus
5015	OTX2	HP:0001943	Hypoglycemia
5015	OTX2	HP:0000610	Abnormal choroid morphology
5015	OTX2	HP:0001959	Polydipsia
5015	OTX2	HP:0000609	Optic nerve hypoplasia
5015	OTX2	HP:0011386	Narrow internal auditory canal
5015	OTX2	HP:0011344	Severe global developmental delay
5015	OTX2	HP:0001998	Neonatal hypoglycemia
5015	OTX2	HP:0004322	Short stature
5015	OTX2	HP:0005625	Osteoporosis of vertebrae
5015	OTX2	HP:0030680	Abnormality of cardiovascular system morphology
5015	OTX2	HP:0004374	Hemiplegia/hemiparesis
5015	OTX2	HP:0012731	Ectopic anterior pituitary gland
5015	OTX2	HP:0000717	Autism
5015	OTX2	HP:0000789	Infertility
5015	OTX2	HP:0000873	Diabetes insipidus
5015	OTX2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
5015	OTX2	HP:0000839	Pituitary dwarfism
5015	OTX2	HP:0000824	Decreased response to growth hormone stimulation test
5015	OTX2	HP:0000823	Delayed puberty
5015	OTX2	HP:0040075	Hypopituitarism
5015	OTX2	HP:0040086	Abnormal prolactin level
5015	OTX2	HP:0010311	Aplasia/Hypoplasia of the breasts
5015	OTX2	HP:0034323	Reduced circulating growth hormone concentration
5015	OTX2	HP:0000958	Dry skin
5015	OTX2	HP:0000966	Hypohidrosis
5015	OTX2	HP:0000938	Osteopenia
5015	OTX2	HP:0007703	Abnormality of retinal pigmentation
5015	OTX2	HP:0001561	Polyhydramnios
5015	OTX2	HP:0001510	Growth delay
5015	OTX2	HP:0001513	Obesity
5015	OTX2	HP:0012378	Fatigue
5015	OTX2	HP:0002920	Decreased circulating ACTH level
5015	OTX2	HP:0002904	Hyperbilirubinemia
5015	OTX2	HP:0001696	Situs inversus totalis
5015	OTX2	HP:0000368	Low-set, posteriorly rotated ears
5015	OTX2	HP:0000407	Sensorineural hearing impairment
5015	OTX2	HP:0000486	Strabismus
5015	OTX2	HP:0000482	Microcornea
5015	OTX2	HP:0000478	Abnormality of the eye
5015	OTX2	HP:0000458	Anosmia
5015	OTX2	HP:0000457	Depressed nasal ridge
5015	OTX2	HP:0011297	Abnormal digit morphology
5015	OTX2	HP:0000518	Cataract
5015	OTX2	HP:0000528	Anophthalmia
5015	OTX2	HP:0000505	Visual impairment
5015	OTX2	HP:0000501	Glaucoma
5015	OTX2	HP:0030344	Decreased circulating luteinizing hormone level
5015	OTX2	HP:0030341	Decreased circulating follicle stimulating hormone concentration
5015	OTX2	HP:0000589	Coloboma
5015	OTX2	HP:0000556	Retinal dystrophy
5015	OTX2	HP:0000568	Microphthalmia
5019	OXCT1	HP:0000007	Autosomal recessive inheritance
5019	OXCT1	HP:0002789	Tachypnea
5019	OXCT1	HP:0002013	Vomiting
5019	OXCT1	HP:0005974	Episodic ketoacidosis
5019	OXCT1	HP:0003623	Neonatal onset
5019	OXCT1	HP:0040155	Elevated urinary 3-hydroxybutyric acid
5019	OXCT1	HP:0002919	Ketonuria
5032	P2RY11	HP:0002494	Abnormal rapid eye movement sleep
5032	P2RY11	HP:0001279	Syncope
5032	P2RY11	HP:0001262	Excessive daytime somnolence
5032	P2RY11	HP:0002524	Cataplexy
5032	P2RY11	HP:0001350	Slurred speech
5032	P2RY11	HP:0010534	Transient global amnesia
5032	P2RY11	HP:0002360	Sleep disturbance
5032	P2RY11	HP:0000738	Hallucinations
5032	P2RY11	HP:0001513	Obesity
5032	P2RY11	HP:0000478	Abnormality of the eye
5032	P2RY11	HP:0000504	Abnormality of vision
5034	P4HB	HP:0001252	Hypotonia
5034	P4HB	HP:0001263	Global developmental delay
5034	P4HB	HP:0001334	Communicating hydrocephalus
5034	P4HB	HP:0000006	Autosomal dominant inheritance
5034	P4HB	HP:0002652	Skeletal dysplasia
5034	P4HB	HP:0002650	Scoliosis
5034	P4HB	HP:0002645	Wormian bones
5034	P4HB	HP:0002757	Recurrent fractures
5034	P4HB	HP:0002007	Frontal bossing
5034	P4HB	HP:0003312	Abnormal form of the vertebral bodies
5034	P4HB	HP:0011800	Midface retrusion
5034	P4HB	HP:0003593	Infantile onset
5034	P4HB	HP:0000682	Abnormal dental enamel morphology
5034	P4HB	HP:0000684	Delayed eruption of teeth
5034	P4HB	HP:0000691	Microdontia
5034	P4HB	HP:0004322	Short stature
5034	P4HB	HP:0005692	Joint hyperflexibility
5034	P4HB	HP:0004349	Reduced bone mineral density
5034	P4HB	HP:0000772	Abnormal rib morphology
5034	P4HB	HP:0000703	Dentinogenesis imperfecta
5034	P4HB	HP:0004440	Coronal craniosynostosis
5034	P4HB	HP:0000938	Osteopenia
5034	P4HB	HP:0000944	Abnormal metaphysis morphology
5034	P4HB	HP:0000262	Turricephaly
5034	P4HB	HP:0002808	Kyphosis
5034	P4HB	HP:0006367	Crumpled long bones
5034	P4HB	HP:0000238	Hydrocephalus
5034	P4HB	HP:0001511	Intrauterine growth retardation
5034	P4HB	HP:0001608	Abnormality of the voice
5034	P4HB	HP:0006487	Bowing of the long bones
5034	P4HB	HP:0000347	Micrognathia
5034	P4HB	HP:0002953	Vertebral compression fracture
5034	P4HB	HP:0001620	High pitched voice
5034	P4HB	HP:0000494	Downslanted palpebral fissures
5034	P4HB	HP:0005472	Orbital craniosynostosis
5034	P4HB	HP:0000520	Proptosis
5034	P4HB	HP:0000592	Blue sclerae
5034	P4HB	HP:0000586	Shallow orbits
5048	PAFAH1B1	HP:0002478	Progressive spastic quadriplegia
5048	PAFAH1B1	HP:0002463	Language impairment
5048	PAFAH1B1	HP:0002445	Tetraplegia
5048	PAFAH1B1	HP:0007270	Atypical absence seizure
5048	PAFAH1B1	HP:0010864	Intellectual disability, severe
5048	PAFAH1B1	HP:0010850	EEG with spike-wave complexes
5048	PAFAH1B1	HP:0002421	Poor head control
5048	PAFAH1B1	HP:0003745	Sporadic
5048	PAFAH1B1	HP:0001273	Abnormal corpus callosum morphology
5048	PAFAH1B1	HP:0001285	Spastic tetraparesis
5048	PAFAH1B1	HP:0001256	Intellectual disability, mild
5048	PAFAH1B1	HP:0001250	Seizure
5048	PAFAH1B1	HP:0001252	Hypotonia
5048	PAFAH1B1	HP:0001251	Ataxia
5048	PAFAH1B1	HP:0001249	Intellectual disability
5048	PAFAH1B1	HP:0001263	Global developmental delay
5048	PAFAH1B1	HP:0008736	Hypoplasia of penis
5048	PAFAH1B1	HP:0032398	Dysgyria
5048	PAFAH1B1	HP:0002521	Hypsarrhythmia
5048	PAFAH1B1	HP:0002500	Abnormal cerebral white matter morphology
5048	PAFAH1B1	HP:0000098	Tall stature
5048	PAFAH1B1	HP:0001374	Congenital hip dislocation
5048	PAFAH1B1	HP:0025336	Delayed ability to sit
5048	PAFAH1B1	HP:0000023	Inguinal hernia
5048	PAFAH1B1	HP:0032409	Subcortical band heterotopia
5048	PAFAH1B1	HP:0001339	Lissencephaly
5048	PAFAH1B1	HP:0000006	Autosomal dominant inheritance
5048	PAFAH1B1	HP:0001302	Pachygyria
5048	PAFAH1B1	HP:0001320	Cerebellar vermis hypoplasia
5048	PAFAH1B1	HP:0002650	Scoliosis
5048	PAFAH1B1	HP:0001321	Cerebellar hypoplasia
5048	PAFAH1B1	HP:0001319	Neonatal hypotonia
5048	PAFAH1B1	HP:0000160	Narrow mouth
5048	PAFAH1B1	HP:0000177	Abnormal upper lip morphology
5048	PAFAH1B1	HP:0008936	Axial hypotonia
5048	PAFAH1B1	HP:0000112	Nephropathy
5048	PAFAH1B1	HP:0002007	Frontal bossing
5048	PAFAH1B1	HP:0002079	Hypoplasia of the corpus callosum
5048	PAFAH1B1	HP:0002123	Generalized myoclonic seizure
5048	PAFAH1B1	HP:0002120	Cerebral cortical atrophy
5048	PAFAH1B1	HP:0002119	Ventriculomegaly
5048	PAFAH1B1	HP:0002187	Intellectual disability, profound
5048	PAFAH1B1	HP:0002179	Opisthotonus
5048	PAFAH1B1	HP:0003577	Congenital onset
5048	PAFAH1B1	HP:0200134	Epileptic encephalopathy
5048	PAFAH1B1	HP:0002282	Gray matter heterotopia
5048	PAFAH1B1	HP:0011968	Feeding difficulties
5048	PAFAH1B1	HP:0011951	Aspiration pneumonia
5048	PAFAH1B1	HP:0002389	Cavum septum pellucidum
5048	PAFAH1B1	HP:0002384	Focal impaired awareness seizure
5048	PAFAH1B1	HP:0002365	Hypoplasia of the brainstem
5048	PAFAH1B1	HP:0002376	Developmental regression
5048	PAFAH1B1	HP:0002353	EEG abnormality
5048	PAFAH1B1	HP:0010819	Atonic seizure
5048	PAFAH1B1	HP:0010818	Generalized tonic seizure
5048	PAFAH1B1	HP:0020191	Anterior predominant thick cortex pachygyria
5048	PAFAH1B1	HP:0020189	Posterior predominant thick cortex pachygyria
5048	PAFAH1B1	HP:0004209	Clinodactyly of the 5th finger
5048	PAFAH1B1	HP:0031882	Agyria
5048	PAFAH1B1	HP:0006891	Thick cerebral cortex
5048	PAFAH1B1	HP:0012758	Neurodevelopmental delay
5048	PAFAH1B1	HP:0003196	Short nose
5048	PAFAH1B1	HP:0003265	Neonatal hyperbilirubinemia
5048	PAFAH1B1	HP:0000960	Sacral dimple
5048	PAFAH1B1	HP:0000286	Epicanthus
5048	PAFAH1B1	HP:0007772	Impaired smooth pursuit
5048	PAFAH1B1	HP:0000253	Progressive microcephaly
5048	PAFAH1B1	HP:0000218	High palate
5048	PAFAH1B1	HP:0001561	Polyhydramnios
5048	PAFAH1B1	HP:0001539	Omphalocele
5048	PAFAH1B1	HP:0001510	Growth delay
5048	PAFAH1B1	HP:0000369	Low-set ears
5048	PAFAH1B1	HP:0000348	High forehead
5048	PAFAH1B1	HP:0000316	Hypertelorism
5048	PAFAH1B1	HP:0001626	Abnormality of the cardiovascular system
5048	PAFAH1B1	HP:0011153	Focal motor seizure
5048	PAFAH1B1	HP:0012469	Infantile spasms
5048	PAFAH1B1	HP:0000494	Downslanted palpebral fissures
5048	PAFAH1B1	HP:0000463	Anteverted nares
5048	PAFAH1B1	HP:0000470	Short neck
5048	PAFAH1B1	HP:0000445	Wide nose
5048	PAFAH1B1	HP:0005484	Secondary microcephaly
5048	PAFAH1B1	HP:0011201	EEG with changes in voltage
5048	PAFAH1B1	HP:0012520	Dilation of Virchow-Robin spaces
5052	PRDX1	HP:0001290	Generalized hypotonia
5052	PRDX1	HP:0001289	Confusion
5052	PRDX1	HP:0001254	Lethargy
5052	PRDX1	HP:0001250	Seizure
5052	PRDX1	HP:0001252	Hypotonia
5052	PRDX1	HP:0001249	Intellectual disability
5052	PRDX1	HP:0001263	Global developmental delay
5052	PRDX1	HP:0000083	Renal insufficiency
5052	PRDX1	HP:0000093	Proteinuria
5052	PRDX1	HP:0008872	Feeding difficulties in infancy
5052	PRDX1	HP:0000007	Autosomal recessive inheritance
5052	PRDX1	HP:0001337	Tremor
5052	PRDX1	HP:0012120	Methylmalonic aciduria
5052	PRDX1	HP:0007663	Reduced visual acuity
5052	PRDX1	HP:0000112	Nephropathy
5052	PRDX1	HP:0031258	Delirium
5052	PRDX1	HP:0002071	Abnormality of extrapyramidal motor function
5052	PRDX1	HP:0002156	Homocystinuria
5052	PRDX1	HP:0002120	Cerebral cortical atrophy
5052	PRDX1	HP:0002160	Hyperhomocystinemia
5052	PRDX1	HP:0003593	Infantile onset
5052	PRDX1	HP:0003524	Decreased methionine synthase activity
5052	PRDX1	HP:0003658	Hypomethioninemia
5052	PRDX1	HP:0005575	Hemolytic-uremic syndrome
5052	PRDX1	HP:0000639	Nystagmus
5052	PRDX1	HP:0001942	Metabolic acidosis
5052	PRDX1	HP:0001907	Thromboembolism
5052	PRDX1	HP:0000726	Dementia
5052	PRDX1	HP:0000790	Hematuria
5052	PRDX1	HP:0040126	Abnormal vitamin B12 level
5052	PRDX1	HP:0003153	Cystathioninuria
5052	PRDX1	HP:0003145	Decreased adenosylcobalamin
5052	PRDX1	HP:0003210	Decreased methylmalonyl-CoA mutase activity
5052	PRDX1	HP:0003223	Decreased methylcobalamin
5052	PRDX1	HP:0003286	Cystathioninemia
5052	PRDX1	HP:0000276	Long face
5052	PRDX1	HP:0000238	Hydrocephalus
5052	PRDX1	HP:0000252	Microcephaly
5052	PRDX1	HP:0001508	Failure to thrive
5052	PRDX1	HP:0002912	Methylmalonic acidemia
5052	PRDX1	HP:0000369	Low-set ears
5052	PRDX1	HP:0000348	High forehead
5052	PRDX1	HP:0000319	Smooth philtrum
5052	PRDX1	HP:0000400	Macrotia
5052	PRDX1	HP:0000505	Visual impairment
5052	PRDX1	HP:0000580	Pigmentary retinopathy
5052	PRDX1	HP:0001889	Megaloblastic anemia
5052	PRDX1	HP:0001873	Thrombocytopenia
5052	PRDX1	HP:0001875	Neutropenia
5053	PAH	HP:0001156	Brachydactyly
5053	PAH	HP:0008589	Hypoplastic helices
5053	PAH	HP:0010864	Intellectual disability, severe
5053	PAH	HP:0001276	Hypertonia
5053	PAH	HP:0001268	Mental deterioration
5053	PAH	HP:0001250	Seizure
5053	PAH	HP:0001249	Intellectual disability
5053	PAH	HP:0001263	Global developmental delay
5053	PAH	HP:0002514	Cerebral calcification
5053	PAH	HP:0002686	Prenatal maternal abnormality
5053	PAH	HP:0001347	Hyperreflexia
5053	PAH	HP:0007513	Generalized hypopigmentation
5053	PAH	HP:0000007	Autosomal recessive inheritance
5053	PAH	HP:0001337	Tremor
5053	PAH	HP:0001488	Bilateral ptosis
5053	PAH	HP:0410066	Increased level of hippuric acid in urine
5053	PAH	HP:0002017	Nausea and vomiting
5053	PAH	HP:0002032	Esophageal atresia
5053	PAH	HP:0005982	Reduced phenylalanine hydroxylase level
5053	PAH	HP:0002079	Hypoplasia of the corpus callosum
5053	PAH	HP:0034458	Elevated urinary phenylpyruvic acid level
5053	PAH	HP:0009611	Bifid distal phalanx of the thumb
5053	PAH	HP:0010550	Paraplegia
5053	PAH	HP:0100716	Self-injurious behavior
5053	PAH	HP:0002286	Fair hair
5053	PAH	HP:0007018	Attention deficit hyperactivity disorder
5053	PAH	HP:0001010	Hypopigmentation of the skin
5053	PAH	HP:0002354	Memory impairment
5053	PAH	HP:0002333	Motor deterioration
5053	PAH	HP:0100679	Lack of skin elasticity
5053	PAH	HP:0100610	Maternal hyperphenylalaninemia
5053	PAH	HP:0002301	Hemiplegia
5053	PAH	HP:0004923	Hyperphenylalaninemia
5053	PAH	HP:0004920	Phenylpyruvic acidemia
5053	PAH	HP:0005599	Hypopigmentation of hair
5053	PAH	HP:0000635	Blue irides
5053	PAH	HP:0000601	Hypotelorism
5053	PAH	HP:0001999	Abnormal facial shape
5053	PAH	HP:0004383	Hypoplastic left heart
5053	PAH	HP:0000752	Hyperactivity
5053	PAH	HP:0000737	Irritability
5053	PAH	HP:0000739	Anxiety
5053	PAH	HP:0000742	Self-mutilation
5053	PAH	HP:0000716	Depression
5053	PAH	HP:0000718	Aggressive behavior
5053	PAH	HP:0000717	Autism
5053	PAH	HP:0000709	Psychosis
5053	PAH	HP:0000708	Atypical behavior
5053	PAH	HP:0004411	Deviated nasal septum
5053	PAH	HP:0100324	Scleroderma
5053	PAH	HP:0000958	Dry skin
5053	PAH	HP:0000964	Eczema
5053	PAH	HP:0000286	Epicanthus
5053	PAH	HP:0030084	Clinodactyly
5053	PAH	HP:0000252	Microcephaly
5053	PAH	HP:0012210	Abnormal renal morphology
5053	PAH	HP:0000218	High palate
5053	PAH	HP:0002836	Bladder exstrophy
5053	PAH	HP:0001511	Intrauterine growth retardation
5053	PAH	HP:0001510	Growth delay
5053	PAH	HP:0000340	Sloping forehead
5053	PAH	HP:0000343	Long philtrum
5053	PAH	HP:0001680	Coarctation of aorta
5053	PAH	HP:0000347	Micrognathia
5053	PAH	HP:0001629	Ventricular septal defect
5053	PAH	HP:0001627	Abnormal heart morphology
5053	PAH	HP:0001636	Tetralogy of Fallot
5053	PAH	HP:0001719	Double outlet right ventricle
5053	PAH	HP:0000486	Strabismus
5053	PAH	HP:0000463	Anteverted nares
5053	PAH	HP:0000431	Wide nasal bridge
5053	PAH	HP:0000518	Cataract
5054	SERPINE1	HP:0007420	Spontaneous hematomas
5054	SERPINE1	HP:0000007	Autosomal recessive inheritance
5054	SERPINE1	HP:0000006	Autosomal dominant inheritance
5054	SERPINE1	HP:0006298	Prolonged bleeding after dental extraction
5054	SERPINE1	HP:0000132	Menorrhagia
5054	SERPINE1	HP:0002170	Intracranial hemorrhage
5054	SERPINE1	HP:0011891	Post-partum hemorrhage
5054	SERPINE1	HP:0011854	Hemoperitoneum
5054	SERPINE1	HP:0003577	Congenital onset
5054	SERPINE1	HP:0002239	Gastrointestinal hemorrhage
5054	SERPINE1	HP:0004846	Prolonged bleeding after surgery
5054	SERPINE1	HP:0001058	Poor wound healing
5054	SERPINE1	HP:0001933	Subcutaneous hemorrhage
5054	SERPINE1	HP:0001934	Persistent bleeding after trauma
5054	SERPINE1	HP:0030657	Umbilical cord hematoma
5054	SERPINE1	HP:0100310	Epidural hemorrhage
5054	SERPINE1	HP:0040228	Decreased level of plasminogen
5054	SERPINE1	HP:0040230	Decreased level of tissue plasminogen activator
5054	SERPINE1	HP:0040245	Reduced alpha-2-antiplasmin activity
5054	SERPINE1	HP:0040248	Reduced plasminogen activator inhibitor 1 activity
5054	SERPINE1	HP:0040249	Reduced plasminogen activator inhibitor 1 antigen
5054	SERPINE1	HP:0040184	Oral bleeding
5054	SERPINE1	HP:0012233	Intramuscular hematoma
5054	SERPINE1	HP:0005268	Miscarriage
5054	SERPINE1	HP:0005261	Joint hemorrhage
5054	SERPINE1	HP:0001685	Myocardial fibrosis
5054	SERPINE1	HP:0001622	Premature birth
5054	SERPINE1	HP:0000421	Epistaxis
5054	SERPINE1	HP:0001892	Abnormal bleeding
5058	PAK1	HP:0002465	Poor speech
5058	PAK1	HP:0010863	Receptive language delay
5058	PAK1	HP:0010864	Intellectual disability, severe
5058	PAK1	HP:0008551	Microtia
5058	PAK1	HP:0001290	Generalized hypotonia
5058	PAK1	HP:0001270	Motor delay
5058	PAK1	HP:0001250	Seizure
5058	PAK1	HP:0001263	Global developmental delay
5058	PAK1	HP:0000006	Autosomal dominant inheritance
5058	PAK1	HP:0002020	Gastroesophageal reflux
5058	PAK1	HP:0002007	Frontal bossing
5058	PAK1	HP:0002066	Gait ataxia
5058	PAK1	HP:0003593	Infantile onset
5058	PAK1	HP:0020045	Esodeviation
5058	PAK1	HP:0002317	Unsteady gait
5058	PAK1	HP:0001988	Recurrent hypoglycemia
5058	PAK1	HP:0031936	Delayed ability to walk
5058	PAK1	HP:0000750	Delayed speech and language development
5058	PAK1	HP:0030891	Periventricular white matter hyperintensities
5058	PAK1	HP:0000276	Long face
5058	PAK1	HP:0000337	Broad forehead
5058	PAK1	HP:0000490	Deeply set eye
5058	PAK1	HP:0012448	Delayed myelination
5058	PAK1	HP:0005490	Postnatal macrocephaly
5062	PAK2	HP:0001195	Single umbilical artery
5062	PAK2	HP:0033542	Bronchial wall thickening
5062	PAK2	HP:0100832	Vitreous floaters
5062	PAK2	HP:0001250	Seizure
5062	PAK2	HP:0001249	Intellectual disability
5062	PAK2	HP:0001263	Global developmental delay
5062	PAK2	HP:0000076	Vesicoureteral reflux
5062	PAK2	HP:0001362	Calvarial skull defect
5062	PAK2	HP:0000006	Autosomal dominant inheritance
5062	PAK2	HP:0006297	Enamel hypoplasia
5062	PAK2	HP:0002021	Pyloric stenosis
5062	PAK2	HP:0011800	Midface retrusion
5062	PAK2	HP:0002085	Occipital encephalocele
5062	PAK2	HP:0002084	Encephalocele
5062	PAK2	HP:0002205	Recurrent respiratory infections
5062	PAK2	HP:0100764	Lymphangioma
5062	PAK2	HP:0001083	Ectopia lentis
5062	PAK2	HP:0000639	Nystagmus
5062	PAK2	HP:0000608	Macular degeneration
5062	PAK2	HP:0004327	Abnormal vitreous humor morphology
5062	PAK2	HP:0005692	Joint hyperflexibility
5062	PAK2	HP:0000717	Autism
5062	PAK2	HP:0000286	Epicanthus
5062	PAK2	HP:0001595	Abnormal hair morphology
5062	PAK2	HP:0007795	Anterior cortical cataract
5062	PAK2	HP:0007773	Vitreoretinopathy
5062	PAK2	HP:0000238	Hydrocephalus
5062	PAK2	HP:0030037	Bifid ureter
5062	PAK2	HP:0006530	Abnormal pulmonary interstitial morphology
5062	PAK2	HP:0011003	High myopia
5062	PAK2	HP:0000347	Micrognathia
5062	PAK2	HP:0001651	Dextrocardia
5062	PAK2	HP:0001643	Patent ductus arteriosus
5062	PAK2	HP:0005280	Depressed nasal bridge
5062	PAK2	HP:0000486	Strabismus
5062	PAK2	HP:0012450	Chronic constipation
5062	PAK2	HP:0000518	Cataract
5062	PAK2	HP:0000529	Progressive visual loss
5062	PAK2	HP:0000572	Visual loss
5062	PAK2	HP:0000541	Retinal detachment
5062	PAK2	HP:0000545	Myopia
5063	PAK3	HP:0002465	Poor speech
5063	PAK3	HP:0010864	Intellectual disability, severe
5063	PAK3	HP:0001250	Seizure
5063	PAK3	HP:0001252	Hypotonia
5063	PAK3	HP:0001249	Intellectual disability
5063	PAK3	HP:0001263	Global developmental delay
5063	PAK3	HP:0001212	Prominent fingertip pads
5063	PAK3	HP:0001348	Brisk reflexes
5063	PAK3	HP:0000194	Open mouth
5063	PAK3	HP:0001419	X-linked recessive inheritance
5063	PAK3	HP:0002069	Bilateral tonic-clonic seizure
5063	PAK3	HP:0002121	Generalized non-motor (absence) seizure
5063	PAK3	HP:0002194	Delayed gross motor development
5063	PAK3	HP:0002312	Clumsiness
5063	PAK3	HP:0002307	Drooling
5063	PAK3	HP:0004322	Short stature
5063	PAK3	HP:0031936	Delayed ability to walk
5063	PAK3	HP:0000752	Hyperactivity
5063	PAK3	HP:0000739	Anxiety
5063	PAK3	HP:0000736	Short attention span
5063	PAK3	HP:0000750	Delayed speech and language development
5063	PAK3	HP:0000718	Aggressive behavior
5063	PAK3	HP:0000711	Restlessness
5063	PAK3	HP:0000713	Agitation
5063	PAK3	HP:0000709	Psychosis
5063	PAK3	HP:0003196	Short nose
5063	PAK3	HP:0000238	Hydrocephalus
5063	PAK3	HP:0000252	Microcephaly
5063	PAK3	HP:0000219	Thin upper lip vermilion
5063	PAK3	HP:0000218	High palate
5063	PAK3	HP:0000215	Thick upper lip vermilion
5063	PAK3	HP:0012368	Flat face
5063	PAK3	HP:0000340	Sloping forehead
5063	PAK3	HP:0000336	Prominent supraorbital ridges
5063	PAK3	HP:0000400	Macrotia
5063	PAK3	HP:0000490	Deeply set eye
5063	PAK3	HP:0000463	Anteverted nares
5063	PAK3	HP:0000426	Prominent nasal bridge
5063	PAK3	HP:0000582	Upslanted palpebral fissure
5071	PRKN	HP:0025269	Panic attack
5071	PRKN	HP:0001288	Gait disturbance
5071	PRKN	HP:0002578	Gastroparesis
5071	PRKN	HP:0001257	Spasticity
5071	PRKN	HP:0001347	Hyperreflexia
5071	PRKN	HP:0001332	Dystonia
5071	PRKN	HP:0000007	Autosomal recessive inheritance
5071	PRKN	HP:0001337	Tremor
5071	PRKN	HP:0000006	Autosomal dominant inheritance
5071	PRKN	HP:0001300	Parkinsonism
5071	PRKN	HP:0001428	Somatic mutation
5071	PRKN	HP:0002018	Nausea
5071	PRKN	HP:0002019	Constipation
5071	PRKN	HP:0040307	Male sexual dysfunction
5071	PRKN	HP:0002014	Diarrhea
5071	PRKN	HP:0100543	Cognitive impairment
5071	PRKN	HP:0002067	Bradykinesia
5071	PRKN	HP:0003394	Muscle spasm
5071	PRKN	HP:0002063	Rigidity
5071	PRKN	HP:0002059	Cerebral atrophy
5071	PRKN	HP:0002141	Gait imbalance
5071	PRKN	HP:0002172	Postural instability
5071	PRKN	HP:0003596	Middle age onset
5071	PRKN	HP:0100710	Impulsivity
5071	PRKN	HP:0100785	Insomnia
5071	PRKN	HP:0011960	Substantia nigra gliosis
5071	PRKN	HP:0100660	Dyskinesia
5071	PRKN	HP:0100621	Dysgerminoma
5071	PRKN	HP:0003621	Juvenile onset
5071	PRKN	HP:0000651	Diplopia
5071	PRKN	HP:0003002	Breast carcinoma
5071	PRKN	HP:0000738	Hallucinations
5071	PRKN	HP:0000739	Anxiety
5071	PRKN	HP:0000736	Short attention span
5071	PRKN	HP:0000735	Impaired social interactions
5071	PRKN	HP:0000741	Apathy
5071	PRKN	HP:0000716	Depression
5071	PRKN	HP:0000713	Agitation
5071	PRKN	HP:0000727	Frontal lobe dementia
5071	PRKN	HP:0000726	Dementia
5071	PRKN	HP:0011462	Young adult onset
5071	PRKN	HP:0004409	Hyposmia
5071	PRKN	HP:0100315	Lewy bodies
5071	PRKN	HP:0030078	Lung adenocarcinoma
5071	PRKN	HP:0030014	Female sexual dysfunction
5071	PRKN	HP:0006519	Alveolar cell carcinoma
5071	PRKN	HP:0012332	Abnormal autonomic nervous system physiology
5071	PRKN	HP:0012452	Restless legs
5071	PRKN	HP:0006774	Ovarian papillary adenocarcinoma
5071	PRKN	HP:0030358	Non-small cell lung carcinoma
5071	PRKN	HP:0000551	Color vision defect
5073	PARN	HP:0009926	Epiphora
5073	PARN	HP:0025175	Honeycomb lung
5073	PARN	HP:0025179	Ground-glass opacification
5073	PARN	HP:0010885	Avascular necrosis
5073	PARN	HP:0001276	Hypertonia
5073	PARN	HP:0001251	Ataxia
5073	PARN	HP:0001249	Intellectual disability
5073	PARN	HP:0001265	Hyporeflexia
5073	PARN	HP:0001263	Global developmental delay
5073	PARN	HP:0001231	Abnormal fingernail morphology
5073	PARN	HP:0002575	Tracheoesophageal fistula
5073	PARN	HP:0007440	Generalized hyperpigmentation
5073	PARN	HP:0007392	Excessive wrinkled skin
5073	PARN	HP:0008661	Urethral stenosis
5073	PARN	HP:0002514	Cerebral calcification
5073	PARN	HP:0003829	Typified by incomplete penetrance
5073	PARN	HP:0032341	Reduced forced vital capacity
5073	PARN	HP:0032342	Reduced forced expiratory volume in one second
5073	PARN	HP:0001399	Hepatic failure
5073	PARN	HP:0001394	Cirrhosis
5073	PARN	HP:0000035	Abnormal testis morphology
5073	PARN	HP:0025390	Reticular pattern on pulmonary HRCT
5073	PARN	HP:0002664	Neoplasm
5073	PARN	HP:0000008	Abnormal morphology of female internal genitalia
5073	PARN	HP:0000007	Autosomal recessive inheritance
5073	PARN	HP:0002665	Lymphoma
5073	PARN	HP:0000006	Autosomal dominant inheritance
5073	PARN	HP:0002650	Scoliosis
5073	PARN	HP:0001321	Cerebellar hypoplasia
5073	PARN	HP:0000164	Abnormality of the dentition
5073	PARN	HP:0002757	Recurrent fractures
5073	PARN	HP:0002745	Oral leukoplakia
5073	PARN	HP:0002721	Immunodeficiency
5073	PARN	HP:0002024	Malabsorption
5073	PARN	HP:0002020	Gastroesophageal reflux
5073	PARN	HP:0010444	Pulmonary insufficiency
5073	PARN	HP:0010450	Esophageal stenosis
5073	PARN	HP:0100585	Telangiectasia of the skin
5073	PARN	HP:0002120	Cerebral cortical atrophy
5073	PARN	HP:0002119	Ventriculomegaly
5073	PARN	HP:0002110	Bronchiectasis
5073	PARN	HP:0003593	Infantile onset
5073	PARN	HP:0002240	Hepatomegaly
5073	PARN	HP:0003581	Adult onset
5073	PARN	HP:0002216	Premature graying of hair
5073	PARN	HP:0002209	Sparse scalp hair
5073	PARN	HP:0002205	Recurrent respiratory infections
5073	PARN	HP:0002206	Pulmonary fibrosis
5073	PARN	HP:0008404	Nail dystrophy
5073	PARN	HP:0100759	Clubbing of fingers
5073	PARN	HP:0010624	Aplastic/hypoplastic toenail
5073	PARN	HP:0001053	Hypopigmented skin patches
5073	PARN	HP:0001034	Hypermelanotic macule
5073	PARN	HP:0001000	Abnormality of skin pigmentation
5073	PARN	HP:0200037	Skin vesicle
5073	PARN	HP:0100670	Coarse metaphyseal trabecularization
5073	PARN	HP:0100627	Displacement of the urethral meatus
5073	PARN	HP:0200042	Skin ulcer
5073	PARN	HP:0005528	Bone marrow hypocellularity
5073	PARN	HP:0001928	Abnormality of coagulation
5073	PARN	HP:0000600	Abnormality of the pharynx
5073	PARN	HP:0001903	Anemia
5073	PARN	HP:0011358	Generalized hypopigmentation of hair
5073	PARN	HP:0011364	White hair
5073	PARN	HP:0000679	Taurodontia
5073	PARN	HP:0000670	Carious teeth
5073	PARN	HP:0000668	Hypodontia
5073	PARN	HP:0004322	Short stature
5073	PARN	HP:0004334	Dermal atrophy
5073	PARN	HP:0012735	Cough
5073	PARN	HP:0012732	Anorectal anomaly
5073	PARN	HP:0012733	Macule
5073	PARN	HP:0000704	Periodontitis
5073	PARN	HP:0000819	Diabetes mellitus
5073	PARN	HP:0045051	Decreased DLCO
5073	PARN	HP:0030830	Crackles
5073	PARN	HP:0000975	Hyperhidrosis
5073	PARN	HP:0000982	Palmoplantar keratoderma
5073	PARN	HP:0000939	Osteoporosis
5073	PARN	HP:0008070	Sparse hair
5073	PARN	HP:0008065	Aplasia/Hypoplasia of the skin
5073	PARN	HP:0008066	Abnormal blistering of the skin
5073	PARN	HP:0001596	Alopecia
5073	PARN	HP:0031413	Short telomere length
5073	PARN	HP:0000252	Microcephaly
5073	PARN	HP:0002875	Exertional dyspnea
5073	PARN	HP:0002894	Neoplasm of the pancreas
5073	PARN	HP:0001508	Failure to thrive
5073	PARN	HP:0001511	Intrauterine growth retardation
5073	PARN	HP:0006530	Abnormal pulmonary interstitial morphology
5073	PARN	HP:0006480	Premature loss of teeth
5073	PARN	HP:0000365	Hearing impairment
5073	PARN	HP:0000327	Hypoplasia of the maxilla
5073	PARN	HP:0000499	Abnormal eyelash morphology
5073	PARN	HP:0000498	Blepharitis
5073	PARN	HP:0005374	Cellular immunodeficiency
5073	PARN	HP:0001744	Splenomegaly
5073	PARN	HP:0000518	Cataract
5073	PARN	HP:0000534	Abnormal eyebrow morphology
5073	PARN	HP:0001881	Abnormal leukocyte morphology
5073	PARN	HP:0001874	Abnormality of neutrophils
5073	PARN	HP:0001873	Thrombocytopenia
5075	PAX1	HP:0001182	Tapered finger
5075	PAX1	HP:0001276	Hypertonia
5075	PAX1	HP:0001249	Intellectual disability
5075	PAX1	HP:0001263	Global developmental delay
5075	PAX1	HP:0008678	Renal hypoplasia/aplasia
5075	PAX1	HP:0001347	Hyperreflexia
5075	PAX1	HP:0007477	Abnormal dermatoglyphics
5075	PAX1	HP:0000007	Autosomal recessive inheritance
5075	PAX1	HP:0007678	Lacrimal duct stenosis
5075	PAX1	HP:0000107	Renal cyst
5075	PAX1	HP:0002750	Delayed skeletal maturation
5075	PAX1	HP:0002167	Abnormality of speech or vocalization
5075	PAX1	HP:0009738	Abnormal antihelix morphology
5075	PAX1	HP:0003691	Scapular winging
5075	PAX1	HP:0002342	Intellectual disability, moderate
5075	PAX1	HP:0200021	Down-sloping shoulders
5075	PAX1	HP:0000689	Dental malocclusion
5075	PAX1	HP:0000670	Carious teeth
5075	PAX1	HP:0004322	Short stature
5075	PAX1	HP:0030668	Periorbital dermoid cyst
5075	PAX1	HP:0004467	Preauricular pit
5075	PAX1	HP:0000889	Abnormal clavicle morphology
5075	PAX1	HP:0000293	Full cheeks
5075	PAX1	HP:0000265	Mastoiditis
5075	PAX1	HP:0030084	Clinodactyly
5075	PAX1	HP:0000218	High palate
5075	PAX1	HP:0000378	Cupped ear
5075	PAX1	HP:0000369	Low-set ears
5075	PAX1	HP:0000324	Facial asymmetry
5075	PAX1	HP:0000308	Microretrognathia
5075	PAX1	HP:0000405	Conductive hearing impairment
5075	PAX1	HP:0000400	Macrotia
5075	PAX1	HP:0005280	Depressed nasal bridge
5075	PAX1	HP:0000463	Anteverted nares
5075	PAX1	HP:0000411	Protruding ear
5075	PAX1	HP:0000410	Mixed hearing impairment
5075	PAX1	HP:0000413	Atresia of the external auditory canal
5075	PAX1	HP:0000431	Wide nasal bridge
5075	PAX1	HP:0000522	Alacrima
5075	PAX1	HP:0000509	Conjunctivitis
5075	PAX1	HP:0000592	Blue sclerae
5076	PAX2	HP:0001144	Orbital cyst
5076	PAX2	HP:0003774	Stage 5 chronic kidney disease
5076	PAX2	HP:0002586	Peritonitis
5076	PAX2	HP:0001254	Lethargy
5076	PAX2	HP:0001250	Seizure
5076	PAX2	HP:0001249	Intellectual disability
5076	PAX2	HP:0003829	Typified by incomplete penetrance
5076	PAX2	HP:0000089	Renal hypoplasia
5076	PAX2	HP:0000083	Renal insufficiency
5076	PAX2	HP:0000085	Horseshoe kidney
5076	PAX2	HP:0000097	Focal segmental glomerulosclerosis
5076	PAX2	HP:0000093	Proteinuria
5076	PAX2	HP:0000076	Vesicoureteral reflux
5076	PAX2	HP:0001388	Joint laxity
5076	PAX2	HP:0012019	Lens luxation
5076	PAX2	HP:0000028	Cryptorchidism
5076	PAX2	HP:0000003	Multicystic kidney dysplasia
5076	PAX2	HP:0000006	Autosomal dominant inheritance
5076	PAX2	HP:0002650	Scoliosis
5076	PAX2	HP:0002643	Neonatal respiratory distress
5076	PAX2	HP:0025466	Beta 2-microglobulinuria
5076	PAX2	HP:0007663	Reduced visual acuity
5076	PAX2	HP:0000100	Nephrotic syndrome
5076	PAX2	HP:0000110	Renal dysplasia
5076	PAX2	HP:0000107	Renal cyst
5076	PAX2	HP:0002027	Abdominal pain
5076	PAX2	HP:0002009	Potter facies
5076	PAX2	HP:0100539	Periorbital edema
5076	PAX2	HP:0100520	Oliguria
5076	PAX2	HP:0002153	Hyperkalemia
5076	PAX2	HP:0002171	Gliosis
5076	PAX2	HP:0004712	Renal malrotation
5076	PAX2	HP:0003577	Congenital onset
5076	PAX2	HP:0003581	Adult onset
5076	PAX2	HP:0011968	Feeding difficulties
5076	PAX2	HP:0011947	Respiratory tract infection
5076	PAX2	HP:0007099	Chiari type I malformation
5076	PAX2	HP:0002315	Headache
5076	PAX2	HP:0001093	Optic nerve dysplasia
5076	PAX2	HP:0005564	Absence of renal corticomedullary differentiation
5076	PAX2	HP:0012622	Chronic kidney disease
5076	PAX2	HP:0000639	Nystagmus
5076	PAX2	HP:0001967	Diffuse mesangial sclerosis
5076	PAX2	HP:0001945	Fever
5076	PAX2	HP:0001942	Metabolic acidosis
5076	PAX2	HP:0000608	Macular degeneration
5076	PAX2	HP:0001903	Anemia
5076	PAX2	HP:0004322	Short stature
5076	PAX2	HP:0003076	Glycosuria
5076	PAX2	HP:0003073	Hypoalbuminemia
5076	PAX2	HP:0005692	Joint hyperflexibility
5076	PAX2	HP:0000737	Irritability
5076	PAX2	HP:0000707	Abnormality of the nervous system
5076	PAX2	HP:0000790	Hematuria
5076	PAX2	HP:0012758	Neurodevelopmental delay
5076	PAX2	HP:0000787	Nephrolithiasis
5076	PAX2	HP:0011509	Macular hyperpigmentation
5076	PAX2	HP:0000822	Hypertension
5076	PAX2	HP:0030854	Scleral staphyloma
5076	PAX2	HP:0003259	Elevated circulating creatinine concentration
5076	PAX2	HP:0000977	Soft skin
5076	PAX2	HP:0000974	Hyperextensible skin
5076	PAX2	HP:0000969	Edema
5076	PAX2	HP:0012213	Decreased glomerular filtration rate
5076	PAX2	HP:0025514	Morning glory anomaly
5076	PAX2	HP:0001562	Oligohydramnios
5076	PAX2	HP:0001508	Failure to thrive
5076	PAX2	HP:0001518	Small for gestational age
5076	PAX2	HP:0001510	Growth delay
5076	PAX2	HP:0031504	Foamy urine
5076	PAX2	HP:0002907	Microscopic hematuria
5076	PAX2	HP:0002902	Hyponatremia
5076	PAX2	HP:0000365	Hearing impairment
5076	PAX2	HP:0011003	High myopia
5076	PAX2	HP:0001622	Premature birth
5076	PAX2	HP:0000407	Sensorineural hearing impairment
5076	PAX2	HP:0000483	Astigmatism
5076	PAX2	HP:0000486	Strabismus
5076	PAX2	HP:0000480	Retinal coloboma
5076	PAX2	HP:0000518	Cataract
5076	PAX2	HP:0000505	Visual impairment
5076	PAX2	HP:0012595	Mild proteinuria
5076	PAX2	HP:0012579	Minimal change glomerulonephritis
5076	PAX2	HP:0000588	Optic disc coloboma
5076	PAX2	HP:0000568	Microphthalmia
5076	PAX2	HP:0000541	Retinal detachment
5076	PAX2	HP:0000540	Hypermetropia
5076	PAX2	HP:0000533	Chorioretinal atrophy
5076	PAX2	HP:0000545	Myopia
5077	PAX3	HP:0001156	Brachydactyly
5077	PAX3	HP:0001167	Abnormal finger morphology
5077	PAX3	HP:0002475	Myelomeningocele
5077	PAX3	HP:0002435	Meningocele
5077	PAX3	HP:0009933	Narrow naris
5077	PAX3	HP:0009924	Aplasia/Hypoplasia involving the nose
5077	PAX3	HP:0002414	Spina bifida
5077	PAX3	HP:0001100	Heterochromia iridis
5077	PAX3	HP:0001249	Intellectual disability
5077	PAX3	HP:0001258	Spastic paraplegia
5077	PAX3	HP:0007443	Partial albinism
5077	PAX3	HP:0003828	Variable expressivity
5077	PAX3	HP:0001387	Joint stiffness
5077	PAX3	HP:0000007	Autosomal recessive inheritance
5077	PAX3	HP:0000006	Autosomal dominant inheritance
5077	PAX3	HP:0002650	Scoliosis
5077	PAX3	HP:0000160	Narrow mouth
5077	PAX3	HP:0000175	Cleft palate
5077	PAX3	HP:0002779	Tracheomalacia
5077	PAX3	HP:0001428	Somatic mutation
5077	PAX3	HP:0009465	Ulnar deviation of finger
5077	PAX3	HP:0009487	Ulnar deviation of the hand
5077	PAX3	HP:0009473	Joint contracture of the hand
5077	PAX3	HP:0100490	Camptodactyly of finger
5077	PAX3	HP:0010554	Cutaneous finger syndactyly
5077	PAX3	HP:0002251	Aganglionic megacolon
5077	PAX3	HP:0002216	Premature graying of hair
5077	PAX3	HP:0002227	White eyelashes
5077	PAX3	HP:0002226	White eyebrow
5077	PAX3	HP:0002211	White forelock
5077	PAX3	HP:0009702	Carpal synostosis
5077	PAX3	HP:0100750	Atelectasis
5077	PAX3	HP:0001053	Hypopigmented skin patches
5077	PAX3	HP:0001063	Acrocyanosis
5077	PAX3	HP:0003691	Scapular winging
5077	PAX3	HP:0008527	Congenital sensorineural hearing impairment
5077	PAX3	HP:0010804	Tented upper lip vermilion
5077	PAX3	HP:0005599	Hypopigmentation of hair
5077	PAX3	HP:0000635	Blue irides
5077	PAX3	HP:0000632	Lacrimation abnormality
5077	PAX3	HP:0011364	White hair
5077	PAX3	HP:0000664	Synophrys
5077	PAX3	HP:0030680	Abnormality of cardiovascular system morphology
5077	PAX3	HP:0003049	Ulnar deviation of the wrist
5077	PAX3	HP:0003019	Abnormality of the wrist
5077	PAX3	HP:0003196	Short nose
5077	PAX3	HP:0000912	Sprengel anomaly
5077	PAX3	HP:0003250	Aplasia of the vagina
5077	PAX3	HP:0005815	Supernumerary ribs
5077	PAX3	HP:0001595	Abnormal hair morphology
5077	PAX3	HP:0000275	Narrow face
5077	PAX3	HP:0000271	Abnormality of the face
5077	PAX3	HP:0000272	Malar flattening
5077	PAX3	HP:0002817	Abnormality of the upper limb
5077	PAX3	HP:0030084	Clinodactyly
5077	PAX3	HP:0005048	Synostosis of carpal bones
5077	PAX3	HP:0000252	Microcephaly
5077	PAX3	HP:0000202	Orofacial cleft
5077	PAX3	HP:0000204	Cleft upper lip
5077	PAX3	HP:0012368	Flat face
5077	PAX3	HP:0007894	Hypopigmentation of the fundus
5077	PAX3	HP:0002946	Supernumerary vertebrae
5077	PAX3	HP:0000365	Hearing impairment
5077	PAX3	HP:0000319	Smooth philtrum
5077	PAX3	HP:0000316	Hypertelorism
5077	PAX3	HP:0000327	Hypoplasia of the maxilla
5077	PAX3	HP:0001631	Atrial septal defect
5077	PAX3	HP:0000303	Mandibular prognathia
5077	PAX3	HP:0007990	Hypoplastic iris stroma
5077	PAX3	HP:0000407	Sensorineural hearing impairment
5077	PAX3	HP:0005280	Depressed nasal bridge
5077	PAX3	HP:0000486	Strabismus
5077	PAX3	HP:0000478	Abnormality of the eye
5077	PAX3	HP:0000494	Downslanted palpebral fissures
5077	PAX3	HP:0000457	Depressed nasal ridge
5077	PAX3	HP:0000446	Narrow nasal bridge
5077	PAX3	HP:0000431	Wide nasal bridge
5077	PAX3	HP:0000430	Underdeveloped nasal alae
5077	PAX3	HP:0000426	Prominent nasal bridge
5077	PAX3	HP:0006779	Alveolar rhabdomyosarcoma
5077	PAX3	HP:0000506	Telecanthus
5077	PAX3	HP:0000508	Ptosis
5077	PAX3	HP:0000504	Abnormality of vision
5077	PAX3	HP:0000581	Blepharophimosis
5077	PAX3	HP:0000574	Thick eyebrow
5077	PAX3	HP:0000564	Lacrimal duct atresia
5078	PAX4	HP:0002594	Pancreatic hypoplasia
5078	PAX4	HP:0000077	Abnormality of the kidney
5078	PAX4	HP:0012028	Hepatocellular adenoma
5078	PAX4	HP:0000007	Autosomal recessive inheritance
5078	PAX4	HP:0000006	Autosomal dominant inheritance
5078	PAX4	HP:0006279	Beta-cell dysfunction
5078	PAX4	HP:0000119	Abnormality of the genitourinary system
5078	PAX4	HP:0001426	Multifactorial inheritance
5078	PAX4	HP:0000112	Nephropathy
5078	PAX4	HP:0000107	Renal cyst
5078	PAX4	HP:0005978	Type II diabetes mellitus
5078	PAX4	HP:0008255	Transient neonatal diabetes mellitus
5078	PAX4	HP:0003584	Late onset
5078	PAX4	HP:0004924	Abnormal oral glucose tolerance
5078	PAX4	HP:0004904	Maturity-onset diabetes of the young
5078	PAX4	HP:0031819	Increased waist to hip ratio
5078	PAX4	HP:0001953	Diabetic ketoacidosis
5078	PAX4	HP:0001952	Glucose intolerance
5078	PAX4	HP:0001993	Ketoacidosis
5078	PAX4	HP:0001998	Neonatal hypoglycemia
5078	PAX4	HP:0003076	Glycosuria
5078	PAX4	HP:0003074	Hyperglycemia
5078	PAX4	HP:0030794	Abnormal circulating C-peptide concentration
5078	PAX4	HP:0000855	Insulin resistance
5078	PAX4	HP:0000831	Insulin-resistant diabetes mellitus
5078	PAX4	HP:0000819	Diabetes mellitus
5078	PAX4	HP:0000825	Hyperinsulinemic hypoglycemia
5078	PAX4	HP:0040214	Abnormal circulating insulin concentration
5078	PAX4	HP:0040217	Elevated hemoglobin A1c
5078	PAX4	HP:0040216	Hypoinsulinemia
5078	PAX4	HP:0000956	Acanthosis nigricans
5078	PAX4	HP:0030057	Autoimmune antibody positivity
5078	PAX4	HP:0025502	Overweight
5078	PAX4	HP:0001520	Large for gestational age
5078	PAX4	HP:0001511	Intrauterine growth retardation
5078	PAX4	HP:0001513	Obesity
5078	PAX4	HP:0002960	Autoimmunity
5078	PAX4	HP:0001738	Exocrine pancreatic insufficiency
5078	PAX4	HP:0000488	Retinopathy
5080	PAX6	HP:0001104	Macular hypoplasia
5080	PAX6	HP:0010923	Anterior subcapsular cataract
5080	PAX6	HP:0009918	Ectopia pupillae
5080	PAX6	HP:0007299	Dysfunction of lateral corticospinal tracts
5080	PAX6	HP:0001252	Hypotonia
5080	PAX6	HP:0001251	Ataxia
5080	PAX6	HP:0001249	Intellectual disability
5080	PAX6	HP:0001263	Global developmental delay
5080	PAX6	HP:0007440	Generalized hyperpigmentation
5080	PAX6	HP:0000083	Renal insufficiency
5080	PAX6	HP:0000062	Ambiguous genitalia
5080	PAX6	HP:0000076	Vesicoureteral reflux
5080	PAX6	HP:0025348	Abnormal corneal limbus morphology
5080	PAX6	HP:0000047	Hypospadias
5080	PAX6	HP:0000028	Cryptorchidism
5080	PAX6	HP:0031159	Thinning of Descemet membrane
5080	PAX6	HP:0002667	Nephroblastoma
5080	PAX6	HP:0000006	Autosomal dominant inheritance
5080	PAX6	HP:0033743	Macular agenesis
5080	PAX6	HP:0002650	Scoliosis
5080	PAX6	HP:0001488	Bilateral ptosis
5080	PAX6	HP:0000142	Abnormal vagina morphology
5080	PAX6	HP:0001466	Contiguous gene syndrome
5080	PAX6	HP:0000150	Gonadoblastoma
5080	PAX6	HP:0007676	Hypoplasia of the iris
5080	PAX6	HP:0007663	Reduced visual acuity
5080	PAX6	HP:0007633	Bilateral microphthalmos
5080	PAX6	HP:0000130	Abnormality of the uterus
5080	PAX6	HP:0001428	Somatic mutation
5080	PAX6	HP:0000112	Nephropathy
5080	PAX6	HP:0002079	Hypoplasia of the corpus callosum
5080	PAX6	HP:0010464	Streak ovary
5080	PAX6	HP:0002119	Ventriculomegaly
5080	PAX6	HP:0002126	Polymicrogyria
5080	PAX6	HP:0002168	Scanning speech
5080	PAX6	HP:0002167	Abnormality of speech or vocalization
5080	PAX6	HP:0003577	Congenital onset
5080	PAX6	HP:0002353	EEG abnormality
5080	PAX6	HP:0200020	Corneal erosion
5080	PAX6	HP:0100627	Displacement of the urethral meatus
5080	PAX6	HP:0001087	Developmental glaucoma
5080	PAX6	HP:0001083	Ectopia lentis
5080	PAX6	HP:0032107	Limbal stem cell deficiency
5080	PAX6	HP:0030534	Abnormal best corrected visual acuity test
5080	PAX6	HP:0031883	Increased proinsulin:insulin ratio
5080	PAX6	HP:0000639	Nystagmus
5080	PAX6	HP:0000646	Amblyopia
5080	PAX6	HP:0000648	Optic atrophy
5080	PAX6	HP:0000647	Sclerocornea
5080	PAX6	HP:0000627	Posterior embryotoxon
5080	PAX6	HP:0001952	Glucose intolerance
5080	PAX6	HP:0000609	Optic nerve hypoplasia
5080	PAX6	HP:0000659	Peters anomaly
5080	PAX6	HP:0004322	Short stature
5080	PAX6	HP:0006934	Congenital nystagmus
5080	PAX6	HP:0100022	Abnormality of movement
5080	PAX6	HP:0011493	Central opacification of the cornea
5080	PAX6	HP:0011496	Corneal neovascularization
5080	PAX6	HP:0011480	Unilateral microphthalmos
5080	PAX6	HP:0011483	Anterior synechiae of the anterior chamber
5080	PAX6	HP:0012758	Neurodevelopmental delay
5080	PAX6	HP:0004414	Abnormality of the pulmonary artery
5080	PAX6	HP:0012841	Retinal vascular tortuosity
5080	PAX6	HP:0040030	Chorioretinal hypopigmentation
5080	PAX6	HP:0008053	Aplasia/Hypoplasia of the iris
5080	PAX6	HP:0008059	Aplasia/Hypoplasia of the macula
5080	PAX6	HP:0007703	Abnormality of retinal pigmentation
5080	PAX6	HP:0007710	Peripheral vitreous opacities
5080	PAX6	HP:0000298	Mask-like facies
5080	PAX6	HP:0007759	Opacification of the corneal stroma
5080	PAX6	HP:0007766	Optic disc hypoplasia
5080	PAX6	HP:0007750	Hypoplasia of the fovea
5080	PAX6	HP:0000252	Microcephaly
5080	PAX6	HP:0025514	Morning glory anomaly
5080	PAX6	HP:0000232	Everted lower lip vermilion
5080	PAX6	HP:0001510	Growth delay
5080	PAX6	HP:0001513	Obesity
5080	PAX6	HP:0007819	Presenile cataracts
5080	PAX6	HP:0000364	Hearing abnormality
5080	PAX6	HP:0000347	Micrognathia
5080	PAX6	HP:0007957	Corneal opacity
5080	PAX6	HP:0007990	Hypoplastic iris stroma
5080	PAX6	HP:0007968	Remnants of the hyaloid vascular system
5080	PAX6	HP:0000486	Strabismus
5080	PAX6	HP:0000482	Microcornea
5080	PAX6	HP:0000478	Abnormality of the eye
5080	PAX6	HP:0000491	Keratitis
5080	PAX6	HP:0000518	Cataract
5080	PAX6	HP:0000519	Developmental cataract
5080	PAX6	HP:0000526	Aniridia
5080	PAX6	HP:0000523	Subcapsular cataract
5080	PAX6	HP:0000508	Ptosis
5080	PAX6	HP:0000505	Visual impairment
5080	PAX6	HP:0000504	Abnormality of vision
5080	PAX6	HP:0000501	Glaucoma
5080	PAX6	HP:0000577	Exotropia
5080	PAX6	HP:0000589	Coloboma
5080	PAX6	HP:0000588	Optic disc coloboma
5080	PAX6	HP:0012547	Abnormal involuntary eye movements
5080	PAX6	HP:0000558	Rieger anomaly
5080	PAX6	HP:0000572	Visual loss
5080	PAX6	HP:0000568	Microphthalmia
5080	PAX6	HP:0000567	Chorioretinal coloboma
5080	PAX6	HP:0000541	Retinal detachment
5080	PAX6	HP:0012521	Optic nerve aplasia
5080	PAX6	HP:0000539	Abnormality of refraction
5080	PAX6	HP:0000538	Pseudopapilledema
5081	PAX7	HP:0001290	Generalized hypotonia
5081	PAX7	HP:0001270	Motor delay
5081	PAX7	HP:0001288	Gait disturbance
5081	PAX7	HP:0001284	Areflexia
5081	PAX7	HP:0000028	Cryptorchidism
5081	PAX7	HP:0001324	Muscle weakness
5081	PAX7	HP:0000007	Autosomal recessive inheritance
5081	PAX7	HP:0002650	Scoliosis
5081	PAX7	HP:0008936	Axial hypotonia
5081	PAX7	HP:0000126	Hydronephrosis
5081	PAX7	HP:0001428	Somatic mutation
5081	PAX7	HP:0002747	Respiratory insufficiency due to muscle weakness
5081	PAX7	HP:0002015	Dysphagia
5081	PAX7	HP:0002093	Respiratory insufficiency
5081	PAX7	HP:0009062	Infantile axial hypotonia
5081	PAX7	HP:0003202	Skeletal muscle atrophy
5081	PAX7	HP:0000297	Facial hypotonia
5081	PAX7	HP:0001591	Bell-shaped thorax
5081	PAX7	HP:0002803	Congenital contracture
5081	PAX7	HP:0000218	High palate
5081	PAX7	HP:0001558	Decreased fetal movement
5081	PAX7	HP:0000365	Hearing impairment
5081	PAX7	HP:0000358	Posteriorly rotated ears
5081	PAX7	HP:0000369	Low-set ears
5081	PAX7	HP:0000347	Micrognathia
5081	PAX7	HP:0000325	Triangular face
5081	PAX7	HP:0007979	Gaze-evoked horizontal nystagmus
5081	PAX7	HP:0000457	Depressed nasal ridge
5081	PAX7	HP:0006779	Alveolar rhabdomyosarcoma
5081	PAX7	HP:0000508	Ptosis
5081	PAX7	HP:0012585	Renal atrophy
5083	PAX9	HP:0001231	Abnormal fingernail morphology
5083	PAX9	HP:0000006	Autosomal dominant inheritance
5083	PAX9	HP:0006342	Peg-shaped maxillary lateral incisors
5083	PAX9	HP:0006344	Abnormality of primary molar morphology
5083	PAX9	HP:0006336	Short dental root
5083	PAX9	HP:0006297	Enamel hypoplasia
5083	PAX9	HP:0006289	Agenesis of central incisor
5083	PAX9	HP:0003621	Juvenile onset
5083	PAX9	HP:0000696	Delayed eruption of permanent teeth
5083	PAX9	HP:0000684	Delayed eruption of teeth
5083	PAX9	HP:0000679	Taurodontia
5083	PAX9	HP:0000677	Oligodontia
5083	PAX9	HP:0000691	Microdontia
5083	PAX9	HP:0000690	Agenesis of maxillary lateral incisor
5083	PAX9	HP:0000689	Dental malocclusion
5083	PAX9	HP:0000685	Hypoplasia of teeth
5083	PAX9	HP:0000687	Widely spaced teeth
5083	PAX9	HP:0000970	Anhidrosis
5083	PAX9	HP:0001595	Abnormal hair morphology
5083	PAX9	HP:0012225	Oligodontia of primary teeth
5083	PAX9	HP:0000202	Orofacial cleft
5083	PAX9	HP:0011078	Abnormality of canine
5083	PAX9	HP:0011053	Agenesis of mandibular premolar
5083	PAX9	HP:0011051	Agenesis of premolar
5083	PAX9	HP:0011056	Agenesis of first permanent molar tooth
5083	PAX9	HP:0011055	Agenesis of permanent molar
5083	PAX9	HP:0005216	Impaired mastication
5083	PAX9	HP:0006482	Abnormality of dental morphology
5083	PAX9	HP:0012472	Eclabion
5083	PAX9	HP:0011121	Abnormality of skin morphology
5083	PAX9	HP:0011219	Short face
5087	PBX1	HP:0008589	Hypoplastic helices
5087	PBX1	HP:0008551	Microtia
5087	PBX1	HP:0001290	Generalized hypotonia
5087	PBX1	HP:0001270	Motor delay
5087	PBX1	HP:0001254	Lethargy
5087	PBX1	HP:0001263	Global developmental delay
5087	PBX1	HP:0000089	Renal hypoplasia
5087	PBX1	HP:0000083	Renal insufficiency
5087	PBX1	HP:0000086	Ectopic kidney
5087	PBX1	HP:0000085	Horseshoe kidney
5087	PBX1	HP:0000093	Proteinuria
5087	PBX1	HP:0000062	Ambiguous genitalia
5087	PBX1	HP:0000076	Vesicoureteral reflux
5087	PBX1	HP:0000054	Micropenis
5087	PBX1	HP:0000028	Cryptorchidism
5087	PBX1	HP:0000006	Autosomal dominant inheritance
5087	PBX1	HP:0002643	Neonatal respiratory distress
5087	PBX1	HP:0002617	Vascular dilatation
5087	PBX1	HP:0025466	Beta 2-microglobulinuria
5087	PBX1	HP:0000122	Unilateral renal agenesis
5087	PBX1	HP:0000110	Renal dysplasia
5087	PBX1	HP:0000107	Renal cyst
5087	PBX1	HP:0000104	Renal agenesis
5087	PBX1	HP:0002002	Deep philtrum
5087	PBX1	HP:0002009	Potter facies
5087	PBX1	HP:0002093	Respiratory insufficiency
5087	PBX1	HP:0100520	Oliguria
5087	PBX1	HP:0002153	Hyperkalemia
5087	PBX1	HP:0004719	Hyperechogenic kidneys
5087	PBX1	HP:0011968	Feeding difficulties
5087	PBX1	HP:0005564	Absence of renal corticomedullary differentiation
5087	PBX1	HP:0005563	Decreased numbers of nephrons
5087	PBX1	HP:0012622	Chronic kidney disease
5087	PBX1	HP:0000639	Nystagmus
5087	PBX1	HP:0001942	Metabolic acidosis
5087	PBX1	HP:0001903	Anemia
5087	PBX1	HP:0001999	Abnormal facial shape
5087	PBX1	HP:0004322	Short stature
5087	PBX1	HP:0003076	Glycosuria
5087	PBX1	HP:0000750	Delayed speech and language development
5087	PBX1	HP:0000776	Congenital diaphragmatic hernia
5087	PBX1	HP:0012758	Neurodevelopmental delay
5087	PBX1	HP:0000822	Hypertension
5087	PBX1	HP:0040080	Anteverted ears
5087	PBX1	HP:0000969	Edema
5087	PBX1	HP:0000286	Epicanthus
5087	PBX1	HP:0000275	Narrow face
5087	PBX1	HP:0000276	Long face
5087	PBX1	HP:0012213	Decreased glomerular filtration rate
5087	PBX1	HP:0000219	Thin upper lip vermilion
5087	PBX1	HP:0001562	Oligohydramnios
5087	PBX1	HP:0030037	Bifid ureter
5087	PBX1	HP:0001508	Failure to thrive
5087	PBX1	HP:0001518	Small for gestational age
5087	PBX1	HP:0001510	Growth delay
5087	PBX1	HP:0000377	Abnormal pinna morphology
5087	PBX1	HP:0000391	Thickened helices
5087	PBX1	HP:0002907	Microscopic hematuria
5087	PBX1	HP:0002902	Hyponatremia
5087	PBX1	HP:0000365	Hearing impairment
5087	PBX1	HP:0000369	Low-set ears
5087	PBX1	HP:0001627	Abnormal heart morphology
5087	PBX1	HP:0001622	Premature birth
5087	PBX1	HP:0000483	Astigmatism
5087	PBX1	HP:0000486	Strabismus
5087	PBX1	HP:0000463	Anteverted nares
5087	PBX1	HP:0000431	Wide nasal bridge
5087	PBX1	HP:0000540	Hypermetropia
5091	PC	HP:0002415	Leukodystrophy
5091	PC	HP:0001250	Seizure
5091	PC	HP:0001252	Hypotonia
5091	PC	HP:0001249	Intellectual disability
5091	PC	HP:0001263	Global developmental delay
5091	PC	HP:0000007	Autosomal recessive inheritance
5091	PC	HP:0003348	Hyperalaninemia
5091	PC	HP:0002049	Proximal renal tubular acidosis
5091	PC	HP:0002151	Increased serum lactate
5091	PC	HP:0002169	Clonus
5091	PC	HP:0003593	Infantile onset
5091	PC	HP:0003577	Congenital onset
5091	PC	HP:0002240	Hepatomegaly
5091	PC	HP:0003542	Increased serum pyruvate
5091	PC	HP:0002305	Athetosis
5091	PC	HP:0007190	Neuronal loss in the cerebral cortex
5091	PC	HP:0001943	Hypoglycemia
5091	PC	HP:0006970	Periventricular leukomalacia
5091	PC	HP:0003128	Lactic acidosis
5092	PCBD1	HP:0033594	Elevated urinary 7-biopterin level
5092	PCBD1	HP:0001290	Generalized hypotonia
5092	PCBD1	HP:0001276	Hypertonia
5092	PCBD1	HP:0001270	Motor delay
5092	PCBD1	HP:0000007	Autosomal recessive inheritance
5092	PCBD1	HP:0001337	Tremor
5092	PCBD1	HP:0001300	Parkinsonism
5092	PCBD1	HP:0008936	Axial hypotonia
5092	PCBD1	HP:0010553	Oculogyric crisis
5092	PCBD1	HP:0008297	Transient hyperphenylalaninemia
5092	PCBD1	HP:0004923	Hyperphenylalaninemia
5092	PCBD1	HP:0004904	Maturity-onset diabetes of the young
5092	PCBD1	HP:0100021	Cerebral palsy
5092	PCBD1	HP:0000737	Irritability
5092	PCBD1	HP:0012758	Neurodevelopmental delay
5092	PCBD1	HP:0040206	Abnormal circulating neopterin concentration
5092	PCBD1	HP:0040210	Abnormal circulating biopterin concentration
5092	PCBD1	HP:0002917	Hypomagnesemia
5095	PCCA	HP:0001254	Lethargy
5095	PCCA	HP:0001250	Seizure
5095	PCCA	HP:0001249	Intellectual disability
5095	PCCA	HP:0001263	Global developmental delay
5095	PCCA	HP:0001259	Coma
5095	PCCA	HP:0010978	Abnormality of immune system physiology
5095	PCCA	HP:0002509	Limb hypertonia
5095	PCCA	HP:0008872	Feeding difficulties in infancy
5095	PCCA	HP:0001332	Dystonia
5095	PCCA	HP:0000007	Autosomal recessive inheritance
5095	PCCA	HP:0410066	Increased level of hippuric acid in urine
5095	PCCA	HP:0008936	Axial hypotonia
5095	PCCA	HP:0002789	Tachypnea
5095	PCCA	HP:0003353	Propionyl-CoA carboxylase deficiency
5095	PCCA	HP:0002019	Constipation
5095	PCCA	HP:0002013	Vomiting
5095	PCCA	HP:0002059	Cerebral atrophy
5095	PCCA	HP:0002154	Hyperglycinemia
5095	PCCA	HP:0002104	Apnea
5095	PCCA	HP:0002240	Hepatomegaly
5095	PCCA	HP:0006846	Acute encephalopathy
5095	PCCA	HP:0001944	Dehydration
5095	PCCA	HP:0001943	Hypoglycemia
5095	PCCA	HP:0001942	Metabolic acidosis
5095	PCCA	HP:0001903	Anemia
5095	PCCA	HP:0001992	Organic aciduria
5095	PCCA	HP:0001987	Hyperammonemia
5095	PCCA	HP:0004322	Short stature
5095	PCCA	HP:0004396	Poor appetite
5095	PCCA	HP:0003108	Hyperglycinuria
5095	PCCA	HP:0003128	Lactic acidosis
5095	PCCA	HP:0000964	Eczema
5095	PCCA	HP:0000939	Osteoporosis
5095	PCCA	HP:0011695	Cerebellar hemorrhage
5095	PCCA	HP:0011675	Arrhythmia
5095	PCCA	HP:0001508	Failure to thrive
5095	PCCA	HP:0001638	Cardiomyopathy
5095	PCCA	HP:0001733	Pancreatitis
5095	PCCA	HP:0001873	Thrombocytopenia
5095	PCCA	HP:0001876	Pancytopenia
5095	PCCA	HP:0001875	Neutropenia
5096	PCCB	HP:0001254	Lethargy
5096	PCCB	HP:0001250	Seizure
5096	PCCB	HP:0001249	Intellectual disability
5096	PCCB	HP:0001263	Global developmental delay
5096	PCCB	HP:0001259	Coma
5096	PCCB	HP:0010978	Abnormality of immune system physiology
5096	PCCB	HP:0002509	Limb hypertonia
5096	PCCB	HP:0008872	Feeding difficulties in infancy
5096	PCCB	HP:0001332	Dystonia
5096	PCCB	HP:0000007	Autosomal recessive inheritance
5096	PCCB	HP:0410066	Increased level of hippuric acid in urine
5096	PCCB	HP:0008936	Axial hypotonia
5096	PCCB	HP:0002789	Tachypnea
5096	PCCB	HP:0003353	Propionyl-CoA carboxylase deficiency
5096	PCCB	HP:0002019	Constipation
5096	PCCB	HP:0002013	Vomiting
5096	PCCB	HP:0002059	Cerebral atrophy
5096	PCCB	HP:0002154	Hyperglycinemia
5096	PCCB	HP:0002104	Apnea
5096	PCCB	HP:0002240	Hepatomegaly
5096	PCCB	HP:0006846	Acute encephalopathy
5096	PCCB	HP:0001944	Dehydration
5096	PCCB	HP:0001943	Hypoglycemia
5096	PCCB	HP:0001942	Metabolic acidosis
5096	PCCB	HP:0001903	Anemia
5096	PCCB	HP:0001992	Organic aciduria
5096	PCCB	HP:0001987	Hyperammonemia
5096	PCCB	HP:0004322	Short stature
5096	PCCB	HP:0004396	Poor appetite
5096	PCCB	HP:0003108	Hyperglycinuria
5096	PCCB	HP:0003128	Lactic acidosis
5096	PCCB	HP:0000964	Eczema
5096	PCCB	HP:0000939	Osteoporosis
5096	PCCB	HP:0011695	Cerebellar hemorrhage
5096	PCCB	HP:0011675	Arrhythmia
5096	PCCB	HP:0001508	Failure to thrive
5096	PCCB	HP:0001638	Cardiomyopathy
5096	PCCB	HP:0001733	Pancreatitis
5096	PCCB	HP:0001873	Thrombocytopenia
5096	PCCB	HP:0001876	Pancytopenia
5096	PCCB	HP:0001875	Neutropenia
5105	PCK1	HP:0002480	Hepatic encephalopathy
5105	PCK1	HP:0001250	Seizure
5105	PCK1	HP:0001263	Global developmental delay
5105	PCK1	HP:0001397	Hepatic steatosis
5105	PCK1	HP:0001399	Hepatic failure
5105	PCK1	HP:0000007	Autosomal recessive inheritance
5105	PCK1	HP:0031141	Increased hepatic echogenicity
5105	PCK1	HP:0005959	Impaired gluconeogenesis
5105	PCK1	HP:0002059	Cerebral atrophy
5105	PCK1	HP:0002104	Apnea
5105	PCK1	HP:0003593	Infantile onset
5105	PCK1	HP:0003572	Low plasma citrulline
5105	PCK1	HP:0002240	Hepatomegaly
5105	PCK1	HP:0002353	EEG abnormality
5105	PCK1	HP:0000648	Optic atrophy
5105	PCK1	HP:0001943	Hypoglycemia
5105	PCK1	HP:0031964	Elevated circulating alanine aminotransferase concentration
5105	PCK1	HP:0000799	Renal steatosis
5105	PCK1	HP:0003162	Fasting hypoglycemia
5105	PCK1	HP:0003128	Lactic acidosis
5105	PCK1	HP:0000961	Cyanosis
5105	PCK1	HP:0002919	Ketonuria
5106	PCK2	HP:0001397	Hepatic steatosis
5106	PCK2	HP:0001399	Hepatic failure
5106	PCK2	HP:0000007	Autosomal recessive inheritance
5106	PCK2	HP:0005959	Impaired gluconeogenesis
5106	PCK2	HP:0001943	Hypoglycemia
5106	PCK2	HP:0000799	Renal steatosis
5111	PCNA	HP:0010864	Intellectual disability, severe
5111	PCNA	HP:0001272	Cerebellar atrophy
5111	PCNA	HP:0001256	Intellectual disability, mild
5111	PCNA	HP:0001251	Ataxia
5111	PCNA	HP:0001260	Dysarthria
5111	PCNA	HP:0001263	Global developmental delay
5111	PCNA	HP:0031087	Absent pubertal growth spurt
5111	PCNA	HP:0001371	Flexion contracture
5111	PCNA	HP:0002664	Neoplasm
5111	PCNA	HP:0001324	Muscle weakness
5111	PCNA	HP:0000007	Autosomal recessive inheritance
5111	PCNA	HP:0002015	Dysphagia
5111	PCNA	HP:0003323	Progressive muscle weakness
5111	PCNA	HP:0002066	Gait ataxia
5111	PCNA	HP:0100585	Telangiectasia of the skin
5111	PCNA	HP:0002180	Neurodegeneration
5111	PCNA	HP:0003676	Progressive
5111	PCNA	HP:0001009	Telangiectasia
5111	PCNA	HP:0002317	Unsteady gait
5111	PCNA	HP:0000613	Photophobia
5111	PCNA	HP:0004322	Short stature
5111	PCNA	HP:0000776	Congenital diaphragmatic hernia
5111	PCNA	HP:0000992	Cutaneous photosensitivity
5111	PCNA	HP:0007763	Retinal telangiectasia
5111	PCNA	HP:0000252	Microcephaly
5111	PCNA	HP:0000365	Hearing impairment
5111	PCNA	HP:0001761	Pes cavus
5111	PCNA	HP:0000524	Conjunctival telangiectasia
5116	PCNT	HP:0001156	Brachydactyly
5116	PCNT	HP:0009906	Aplasia/Hypoplasia of the earlobes
5116	PCNT	HP:0009882	Short distal phalanx of finger
5116	PCNT	HP:0008551	Microtia
5116	PCNT	HP:0001297	Stroke
5116	PCNT	HP:0001250	Seizure
5116	PCNT	HP:0001249	Intellectual disability
5116	PCNT	HP:0001263	Global developmental delay
5116	PCNT	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5116	PCNT	HP:0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
5116	PCNT	HP:0001377	Limited elbow extension
5116	PCNT	HP:0000055	Abnormality of female external genitalia
5116	PCNT	HP:0001385	Hip dysplasia
5116	PCNT	HP:0000047	Hypospadias
5116	PCNT	HP:0001363	Craniosynostosis
5116	PCNT	HP:0002690	Large sella turcica
5116	PCNT	HP:0007565	Multiple cafe-au-lait spots
5116	PCNT	HP:0008897	Postnatal growth retardation
5116	PCNT	HP:0007495	Prematurely aged appearance
5116	PCNT	HP:0000007	Autosomal recessive inheritance
5116	PCNT	HP:0002650	Scoliosis
5116	PCNT	HP:0002617	Vascular dilatation
5116	PCNT	HP:0006297	Enamel hypoplasia
5116	PCNT	HP:0002777	Tracheal stenosis
5116	PCNT	HP:0002750	Delayed skeletal maturation
5116	PCNT	HP:0005978	Type II diabetes mellitus
5116	PCNT	HP:0100545	Arterial stenosis
5116	PCNT	HP:0100543	Cognitive impairment
5116	PCNT	HP:0002079	Hypoplasia of the corpus callosum
5116	PCNT	HP:0005930	Abnormal epiphysis morphology
5116	PCNT	HP:0002119	Ventriculomegaly
5116	PCNT	HP:0003498	Disproportionate short stature
5116	PCNT	HP:0011834	Moyamoya phenomenon
5116	PCNT	HP:0010579	Cone-shaped epiphysis
5116	PCNT	HP:0010583	Ivory epiphyses
5116	PCNT	HP:0002213	Fine hair
5116	PCNT	HP:0002209	Sparse scalp hair
5116	PCNT	HP:0002205	Recurrent respiratory infections
5116	PCNT	HP:0007018	Attention deficit hyperactivity disorder
5116	PCNT	HP:0001053	Hypopigmented skin patches
5116	PCNT	HP:0100659	Abnormal cerebral vascular morphology
5116	PCNT	HP:0009804	Tooth agenesis
5116	PCNT	HP:0004944	Dilatation of the cerebral artery
5116	PCNT	HP:0004209	Clinodactyly of the 5th finger
5116	PCNT	HP:0001956	Truncal obesity
5116	PCNT	HP:0001903	Anemia
5116	PCNT	HP:0010034	Short 1st metacarpal
5116	PCNT	HP:0000682	Abnormal dental enamel morphology
5116	PCNT	HP:0011342	Mild global developmental delay
5116	PCNT	HP:0000691	Microdontia
5116	PCNT	HP:0004322	Short stature
5116	PCNT	HP:0004326	Cachexia
5116	PCNT	HP:0009193	Pseudoepiphyses of the metacarpals
5116	PCNT	HP:0003031	Ulnar bowing
5116	PCNT	HP:0005692	Joint hyperflexibility
5116	PCNT	HP:0003015	Flared metaphysis
5116	PCNT	HP:0000774	Narrow chest
5116	PCNT	HP:0003100	Slender long bone
5116	PCNT	HP:0000882	Hypoplastic scapulae
5116	PCNT	HP:0000890	Long clavicles
5116	PCNT	HP:0000826	Precocious puberty
5116	PCNT	HP:0003275	Narrow pelvis bone
5116	PCNT	HP:0100263	Distal symphalangism
5116	PCNT	HP:0000958	Dry skin
5116	PCNT	HP:0000957	Cafe-au-lait spot
5116	PCNT	HP:0045025	Narrow palpebral fissure
5116	PCNT	HP:0000944	Abnormal metaphysis morphology
5116	PCNT	HP:0005819	Short middle phalanx of finger
5116	PCNT	HP:0000278	Retrognathia
5116	PCNT	HP:0000293	Full cheeks
5116	PCNT	HP:0000275	Narrow face
5116	PCNT	HP:0006461	Proximal femoral epiphysiolysis
5116	PCNT	HP:0002812	Coxa vara
5116	PCNT	HP:0000252	Microcephaly
5116	PCNT	HP:0002866	Hypoplastic iliac wing
5116	PCNT	HP:0001511	Intrauterine growth retardation
5116	PCNT	HP:0000387	Absent earlobe
5116	PCNT	HP:0006587	Straight clavicles
5116	PCNT	HP:0001601	Laryngomalacia
5116	PCNT	HP:0001611	Hypernasal speech
5116	PCNT	HP:0000363	Abnormal earlobe morphology
5116	PCNT	HP:0000369	Low-set ears
5116	PCNT	HP:0000340	Sloping forehead
5116	PCNT	HP:0000347	Micrognathia
5116	PCNT	HP:0002982	Tibial bowing
5116	PCNT	HP:0002983	Micromelia
5116	PCNT	HP:0001643	Patent ductus arteriosus
5116	PCNT	HP:0002986	Radial bowing
5116	PCNT	HP:0001620	High pitched voice
5116	PCNT	HP:0001631	Atrial septal defect
5116	PCNT	HP:0006645	Thin clavicles
5116	PCNT	HP:0000407	Sensorineural hearing impairment
5116	PCNT	HP:0000494	Downslanted palpebral fissures
5116	PCNT	HP:0000448	Prominent nose
5116	PCNT	HP:0000444	Convex nasal ridge
5116	PCNT	HP:0000431	Wide nasal bridge
5116	PCNT	HP:0000430	Underdeveloped nasal alae
5116	PCNT	HP:0000426	Prominent nasal bridge
5116	PCNT	HP:0001852	Sandal gap
5116	PCNT	HP:0000501	Glaucoma
5116	PCNT	HP:0000582	Upslanted palpebral fissure
5116	PCNT	HP:0000540	Hypermetropia
5119	CHMP1A	HP:0002465	Poor speech
5119	CHMP1A	HP:0001290	Generalized hypotonia
5119	CHMP1A	HP:0001276	Hypertonia
5119	CHMP1A	HP:0001252	Hypotonia
5119	CHMP1A	HP:0001249	Intellectual disability
5119	CHMP1A	HP:0001263	Global developmental delay
5119	CHMP1A	HP:0001257	Spasticity
5119	CHMP1A	HP:0001387	Joint stiffness
5119	CHMP1A	HP:0001348	Brisk reflexes
5119	CHMP1A	HP:0001347	Hyperreflexia
5119	CHMP1A	HP:0001344	Absent speech
5119	CHMP1A	HP:0000007	Autosomal recessive inheritance
5119	CHMP1A	HP:0002650	Scoliosis
5119	CHMP1A	HP:0001321	Cerebellar hypoplasia
5119	CHMP1A	HP:0008936	Axial hypotonia
5119	CHMP1A	HP:0004684	Talipes valgus
5119	CHMP1A	HP:0002020	Gastroesophageal reflux
5119	CHMP1A	HP:0002019	Constipation
5119	CHMP1A	HP:0002015	Dysphagia
5119	CHMP1A	HP:0002066	Gait ataxia
5119	CHMP1A	HP:0002079	Hypoplasia of the corpus callosum
5119	CHMP1A	HP:0002072	Chorea
5119	CHMP1A	HP:0003593	Infantile onset
5119	CHMP1A	HP:0003577	Congenital onset
5119	CHMP1A	HP:0100704	Cerebral visual impairment
5119	CHMP1A	HP:0011968	Feeding difficulties
5119	CHMP1A	HP:0020045	Esodeviation
5119	CHMP1A	HP:0002365	Hypoplasia of the brainstem
5119	CHMP1A	HP:0002376	Developmental regression
5119	CHMP1A	HP:0010804	Tented upper lip vermilion
5119	CHMP1A	HP:0000664	Synophrys
5119	CHMP1A	HP:0004305	Involuntary movements
5119	CHMP1A	HP:0031936	Delayed ability to walk
5119	CHMP1A	HP:0000735	Impaired social interactions
5119	CHMP1A	HP:0034295	Reduced cerebral white matter volume
5119	CHMP1A	HP:0000998	Hypertrichosis
5119	CHMP1A	HP:0002804	Arthrogryposis multiplex congenita
5119	CHMP1A	HP:0000358	Posteriorly rotated ears
5119	CHMP1A	HP:0000369	Low-set ears
5119	CHMP1A	HP:0001655	Patent foramen ovale
5119	CHMP1A	HP:0001629	Ventricular septal defect
5119	CHMP1A	HP:0000483	Astigmatism
5119	CHMP1A	HP:0000463	Anteverted nares
5119	CHMP1A	HP:0001762	Talipes equinovarus
5119	CHMP1A	HP:0001761	Pes cavus
5119	CHMP1A	HP:0005484	Secondary microcephaly
5119	CHMP1A	HP:0000527	Long eyelashes
5119	CHMP1A	HP:0000574	Thick eyebrow
5119	CHMP1A	HP:0000565	Esotropia
5119	CHMP1A	HP:0000540	Hypermetropia
5119	CHMP1A	HP:0000545	Myopia
5122	PCSK1	HP:0003745	Sporadic
5122	PCSK1	HP:0002591	Polyphagia
5122	PCSK1	HP:0001396	Cholestasis
5122	PCSK1	HP:0012051	Reactive hypoglycemia
5122	PCSK1	HP:0000044	Hypogonadotropic hypogonadism
5122	PCSK1	HP:0000007	Autosomal recessive inheritance
5122	PCSK1	HP:0008915	Childhood-onset truncal obesity
5122	PCSK1	HP:0002750	Delayed skeletal maturation
5122	PCSK1	HP:0002024	Malabsorption
5122	PCSK1	HP:0002014	Diarrhea
5122	PCSK1	HP:0011734	Central adrenal insufficiency
5122	PCSK1	HP:0008163	Decreased circulating cortisol level
5122	PCSK1	HP:0002173	Hypoglycemic seizures
5122	PCSK1	HP:0008245	Pituitary hypothyroidism
5122	PCSK1	HP:0008213	Gonadotropin deficiency
5122	PCSK1	HP:0002297	Red hair
5122	PCSK1	HP:0001010	Hypopigmentation of the skin
5122	PCSK1	HP:0011473	Villous atrophy
5122	PCSK1	HP:0009126	Increased adipose tissue
5122	PCSK1	HP:0000786	Primary amenorrhea
5122	PCSK1	HP:0000842	Hyperinsulinemia
5122	PCSK1	HP:0000824	Decreased response to growth hormone stimulation test
5122	PCSK1	HP:0000823	Delayed puberty
5122	PCSK1	HP:0000956	Acanthosis nigricans
5122	PCSK1	HP:0001508	Failure to thrive
5122	PCSK1	HP:0001510	Growth delay
5122	PCSK1	HP:0001513	Obesity
5130	PCYT1A	HP:0001156	Brachydactyly
5130	PCYT1A	HP:0001132	Lens subluxation
5130	PCYT1A	HP:0001141	Severely reduced visual acuity
5130	PCYT1A	HP:0001105	Retinal atrophy
5130	PCYT1A	HP:0009918	Ectopia pupillae
5130	PCYT1A	HP:0001250	Seizure
5130	PCYT1A	HP:0001252	Hypotonia
5130	PCYT1A	HP:0001249	Intellectual disability
5130	PCYT1A	HP:0001263	Global developmental delay
5130	PCYT1A	HP:0007401	Macular atrophy
5130	PCYT1A	HP:0001387	Joint stiffness
5130	PCYT1A	HP:0008897	Postnatal growth retardation
5130	PCYT1A	HP:0008821	Hypoplastic inferior ilia
5130	PCYT1A	HP:0031171	Femoral spur
5130	PCYT1A	HP:0002657	Spondylometaphyseal dysplasia
5130	PCYT1A	HP:0000007	Autosomal recessive inheritance
5130	PCYT1A	HP:0002650	Scoliosis
5130	PCYT1A	HP:0008905	Rhizomelia
5130	PCYT1A	HP:0012153	Hypotriglyceridemia
5130	PCYT1A	HP:0007688	Undetectable light- and dark-adapted electroretinogram
5130	PCYT1A	HP:0003300	Ovoid vertebral bodies
5130	PCYT1A	HP:0002084	Encephalocele
5130	PCYT1A	HP:0003375	Narrow greater sciatic notch
5130	PCYT1A	HP:0005930	Abnormal epiphysis morphology
5130	PCYT1A	HP:0010583	Ivory epiphyses
5130	PCYT1A	HP:0002269	Abnormality of neuronal migration
5130	PCYT1A	HP:0003510	Severe short stature
5130	PCYT1A	HP:0009803	Short phalanx of finger
5130	PCYT1A	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
5130	PCYT1A	HP:0000639	Nystagmus
5130	PCYT1A	HP:0000602	Ophthalmoplegia
5130	PCYT1A	HP:0010049	Short metacarpal
5130	PCYT1A	HP:0000689	Dental malocclusion
5130	PCYT1A	HP:0001999	Abnormal facial shape
5130	PCYT1A	HP:0004374	Hemiplegia/hemiparesis
5130	PCYT1A	HP:0003015	Flared metaphysis
5130	PCYT1A	HP:0003016	Metaphyseal widening
5130	PCYT1A	HP:0003026	Short long bone
5130	PCYT1A	HP:0003025	Metaphyseal irregularity
5130	PCYT1A	HP:0003021	Metaphyseal cupping
5130	PCYT1A	HP:0012795	Abnormal optic disc morphology
5130	PCYT1A	HP:0000926	Platyspondyly
5130	PCYT1A	HP:0000887	Cupped ribs
5130	PCYT1A	HP:0004565	Severe platyspondyly
5130	PCYT1A	HP:0008002	Abnormality of macular pigmentation
5130	PCYT1A	HP:0000946	Hypoplastic ilia
5130	PCYT1A	HP:0009381	Short finger
5130	PCYT1A	HP:0007703	Abnormality of retinal pigmentation
5130	PCYT1A	HP:0002812	Coxa vara
5130	PCYT1A	HP:0005054	Metaphyseal spurs
5130	PCYT1A	HP:0006487	Bowing of the long bones
5130	PCYT1A	HP:0000365	Hearing impairment
5130	PCYT1A	HP:0002982	Tibial bowing
5130	PCYT1A	HP:0002980	Femoral bowing
5130	PCYT1A	HP:0002979	Bowing of the legs
5130	PCYT1A	HP:0007957	Corneal opacity
5130	PCYT1A	HP:0030329	Retinal thinning
5130	PCYT1A	HP:0000403	Recurrent otitis media
5130	PCYT1A	HP:0000486	Strabismus
5130	PCYT1A	HP:0000518	Cataract
5130	PCYT1A	HP:0000512	Abnormal electroretinogram
5130	PCYT1A	HP:0000529	Progressive visual loss
5130	PCYT1A	HP:0000505	Visual impairment
5130	PCYT1A	HP:0000589	Coloboma
5130	PCYT1A	HP:0000563	Keratoconus
5130	PCYT1A	HP:0000568	Microphthalmia
5130	PCYT1A	HP:0000539	Abnormality of refraction
5130	PCYT1A	HP:0000548	Cone/cone-rod dystrophy
5133	PDCD1	HP:0007305	CNS demyelination
5133	PDCD1	HP:0001257	Spasticity
5133	PDCD1	HP:0000020	Urinary incontinence
5133	PDCD1	HP:0000019	Urinary hesitancy
5133	PDCD1	HP:0001324	Muscle weakness
5133	PDCD1	HP:0001426	Multifactorial inheritance
5133	PDCD1	HP:0003401	Paresthesia
5133	PDCD1	HP:0003581	Adult onset
5133	PDCD1	HP:0002311	Incoordination
5133	PDCD1	HP:0000651	Diplopia
5133	PDCD1	HP:0000716	Depression
5133	PDCD1	HP:0000712	Emotional lability
5137	PDE1C	HP:0000006	Autosomal dominant inheritance
5137	PDE1C	HP:0003581	Adult onset
5137	PDE1C	HP:0000407	Sensorineural hearing impairment
5137	PDE1C	HP:0001751	Abnormal vestibular function
5138	PDE2A	HP:0003763	Bruxism
5138	PDE2A	HP:0001250	Seizure
5138	PDE2A	HP:0001251	Ataxia
5138	PDE2A	HP:0001266	Choreoathetosis
5138	PDE2A	HP:0001263	Global developmental delay
5138	PDE2A	HP:0410263	Brain imaging abnormality
5138	PDE2A	HP:0007359	Focal-onset seizure
5138	PDE2A	HP:0002527	Falls
5138	PDE2A	HP:0012002	Experiential epileptic aura
5138	PDE2A	HP:0001332	Dystonia
5138	PDE2A	HP:0000007	Autosomal recessive inheritance
5138	PDE2A	HP:0008936	Axial hypotonia
5138	PDE2A	HP:0002072	Chorea
5138	PDE2A	HP:0002119	Ventriculomegaly
5138	PDE2A	HP:0003593	Infantile onset
5138	PDE2A	HP:0100785	Insomnia
5138	PDE2A	HP:0002384	Focal impaired awareness seizure
5138	PDE2A	HP:0002376	Developmental regression
5138	PDE2A	HP:0002372	Normal interictal EEG
5138	PDE2A	HP:0002370	Poor coordination
5138	PDE2A	HP:0002342	Intellectual disability, moderate
5138	PDE2A	HP:0002353	EEG abnormality
5138	PDE2A	HP:0007166	Paroxysmal dyskinesia
5138	PDE2A	HP:0002305	Athetosis
5138	PDE2A	HP:0004305	Involuntary movements
5138	PDE2A	HP:0000750	Delayed speech and language development
5138	PDE2A	HP:0000748	Inappropriate laughter
5138	PDE2A	HP:0000718	Aggressive behavior
5138	PDE2A	HP:0000273	Facial grimacing
5138	PDE2A	HP:0000252	Microcephaly
5138	PDE2A	HP:0032663	Focal motor status epilepticus
5138	PDE2A	HP:0011172	Complex febrile seizure
5139	PDE3A	HP:0001156	Brachydactyly
5139	PDE3A	HP:0000006	Autosomal dominant inheritance
5139	PDE3A	HP:0010579	Cone-shaped epiphysis
5139	PDE3A	HP:0009803	Short phalanx of finger
5139	PDE3A	HP:0010049	Short metacarpal
5139	PDE3A	HP:0004322	Short stature
5139	PDE3A	HP:0000822	Hypertension
5139	PDE3A	HP:0005863	Type E brachydactyly
5144	PDE4D	HP:0001156	Brachydactyly
5144	PDE4D	HP:0001250	Seizure
5144	PDE4D	HP:0001249	Intellectual disability
5144	PDE4D	HP:0001263	Global developmental delay
5144	PDE4D	HP:0001230	Broad metacarpals
5144	PDE4D	HP:0006009	Broad phalanx
5144	PDE4D	HP:0010978	Abnormality of immune system physiology
5144	PDE4D	HP:0002516	Increased intracranial pressure
5144	PDE4D	HP:0000055	Abnormality of female external genitalia
5144	PDE4D	HP:0001388	Joint laxity
5144	PDE4D	HP:0000047	Hypospadias
5144	PDE4D	HP:0002684	Thickened calvaria
5144	PDE4D	HP:0000028	Cryptorchidism
5144	PDE4D	HP:0008897	Postnatal growth retardation
5144	PDE4D	HP:0001328	Specific learning disability
5144	PDE4D	HP:0000006	Autosomal dominant inheritance
5144	PDE4D	HP:0002650	Scoliosis
5144	PDE4D	HP:0001319	Neonatal hypotonia
5144	PDE4D	HP:0002615	Hypotension
5144	PDE4D	HP:0000194	Open mouth
5144	PDE4D	HP:0000135	Hypogonadism
5144	PDE4D	HP:0002003	Large forehead
5144	PDE4D	HP:0002007	Frontal bossing
5144	PDE4D	HP:0003312	Abnormal form of the vertebral bodies
5144	PDE4D	HP:0004646	Hypoplasia of the nasal bone
5144	PDE4D	HP:0003301	Irregular vertebral endplates
5144	PDE4D	HP:0011800	Midface retrusion
5144	PDE4D	HP:0005916	Abnormal metacarpal morphology
5144	PDE4D	HP:0003456	Low urinary cyclic AMP response to PTH administration
5144	PDE4D	HP:0003416	Spinal canal stenosis
5144	PDE4D	HP:0010579	Cone-shaped epiphysis
5144	PDE4D	HP:0003577	Congenital onset
5144	PDE4D	HP:0003528	Elevated calcitonin
5144	PDE4D	HP:0002286	Fair hair
5144	PDE4D	HP:0002297	Red hair
5144	PDE4D	HP:0010665	Bilateral coxa valga
5144	PDE4D	HP:0010655	Epiphyseal stippling
5144	PDE4D	HP:0003502	Mild short stature
5144	PDE4D	HP:0009830	Peripheral neuropathy
5144	PDE4D	HP:0010807	Open bite
5144	PDE4D	HP:0009824	Upper limb undergrowth
5144	PDE4D	HP:0009803	Short phalanx of finger
5144	PDE4D	HP:0008497	Congenital craniofacial dysostosis
5144	PDE4D	HP:0008479	Hypoplastic vertebral bodies
5144	PDE4D	HP:0008450	Narrow vertebral interpedicular distance
5144	PDE4D	HP:0008457	Caudal interpedicular narrowing
5144	PDE4D	HP:0010743	Short metatarsal
5144	PDE4D	HP:0004233	Advanced ossification of carpal bones
5144	PDE4D	HP:0000635	Blue irides
5144	PDE4D	HP:0000637	Long palpebral fissure
5144	PDE4D	HP:0000601	Hypotelorism
5144	PDE4D	HP:0010049	Short metacarpal
5144	PDE4D	HP:0010055	Broad hallux
5144	PDE4D	HP:0000682	Abnormal dental enamel morphology
5144	PDE4D	HP:0000684	Delayed eruption of teeth
5144	PDE4D	HP:0004322	Short stature
5144	PDE4D	HP:0005616	Accelerated skeletal maturation
5144	PDE4D	HP:0003022	Hypoplasia of the ulna
5144	PDE4D	HP:0000752	Hyperactivity
5144	PDE4D	HP:0000750	Delayed speech and language development
5144	PDE4D	HP:0000717	Autism
5144	PDE4D	HP:0000729	Autistic behavior
5144	PDE4D	HP:0003196	Short nose
5144	PDE4D	HP:0003165	Elevated circulating parathyroid hormone level
5144	PDE4D	HP:0000858	Irregular menstruation
5144	PDE4D	HP:0000851	Congenital hypothyroidism
5144	PDE4D	HP:0000852	Pseudohypoparathyroidism
5144	PDE4D	HP:0000819	Diabetes mellitus
5144	PDE4D	HP:0000824	Decreased response to growth hormone stimulation test
5144	PDE4D	HP:0040071	Abnormal morphology of ulna
5144	PDE4D	HP:0000995	Melanocytic nevus
5144	PDE4D	HP:0045025	Narrow palpebral fissure
5144	PDE4D	HP:0005819	Short middle phalanx of finger
5144	PDE4D	HP:0000286	Epicanthus
5144	PDE4D	HP:0000283	Broad face
5144	PDE4D	HP:0000280	Coarse facial features
5144	PDE4D	HP:0001597	Abnormality of the nail
5144	PDE4D	HP:0000272	Malar flattening
5144	PDE4D	HP:0002818	Abnormal morphology of the radius
5144	PDE4D	HP:0000248	Brachycephaly
5144	PDE4D	HP:0000219	Thin upper lip vermilion
5144	PDE4D	HP:0001511	Intrauterine growth retardation
5144	PDE4D	HP:0001513	Obesity
5144	PDE4D	HP:0012368	Flat face
5144	PDE4D	HP:0002905	Hyperphosphatemia
5144	PDE4D	HP:0002901	Hypocalcemia
5144	PDE4D	HP:0000365	Hearing impairment
5144	PDE4D	HP:0000358	Posteriorly rotated ears
5144	PDE4D	HP:0000343	Long philtrum
5144	PDE4D	HP:0000347	Micrognathia
5144	PDE4D	HP:0002983	Micromelia
5144	PDE4D	HP:0000316	Hypertelorism
5144	PDE4D	HP:0000311	Round face
5144	PDE4D	HP:0000327	Hypoplasia of the maxilla
5144	PDE4D	HP:0000322	Short philtrum
5144	PDE4D	HP:0002984	Hypoplasia of the radius
5144	PDE4D	HP:0000303	Mandibular prognathia
5144	PDE4D	HP:0005305	Cerebral venous thrombosis
5144	PDE4D	HP:0005274	Prominent nasal tip
5144	PDE4D	HP:0005280	Depressed nasal bridge
5144	PDE4D	HP:0000463	Anteverted nares
5144	PDE4D	HP:0000457	Depressed nasal ridge
5144	PDE4D	HP:0001769	Broad foot
5144	PDE4D	HP:0001763	Pes planus
5144	PDE4D	HP:0001783	Broad metatarsal
5144	PDE4D	HP:0000448	Prominent nose
5144	PDE4D	HP:0000431	Wide nasal bridge
5144	PDE4D	HP:0005453	Absent/hypoplastic paranasal sinuses
5144	PDE4D	HP:0000508	Ptosis
5144	PDE4D	HP:0000505	Visual impairment
5144	PDE4D	HP:0001831	Short toe
5144	PDE4D	HP:0000565	Esotropia
5144	PDE4D	HP:0000540	Hypermetropia
5145	PDE6A	HP:0001249	Intellectual disability
5145	PDE6A	HP:0008736	Hypoplasia of penis
5145	PDE6A	HP:0001347	Hyperreflexia
5145	PDE6A	HP:0000035	Abnormal testis morphology
5145	PDE6A	HP:0000007	Autosomal recessive inheritance
5145	PDE6A	HP:0000135	Hypogonadism
5145	PDE6A	HP:0007675	Progressive night blindness
5145	PDE6A	HP:0005978	Type II diabetes mellitus
5145	PDE6A	HP:0000639	Nystagmus
5145	PDE6A	HP:0000648	Optic atrophy
5145	PDE6A	HP:0000618	Blindness
5145	PDE6A	HP:0000613	Photophobia
5145	PDE6A	HP:0000602	Ophthalmoplegia
5145	PDE6A	HP:0000662	Nyctalopia
5145	PDE6A	HP:0000842	Hyperinsulinemia
5145	PDE6A	HP:0000987	Atypical scarring of skin
5145	PDE6A	HP:0008046	Abnormal retinal vascular morphology
5145	PDE6A	HP:0007703	Abnormality of retinal pigmentation
5145	PDE6A	HP:0007787	Posterior subcapsular cataract
5145	PDE6A	HP:0007737	Bone spicule pigmentation of the retina
5145	PDE6A	HP:0001513	Obesity
5145	PDE6A	HP:0007843	Attenuation of retinal blood vessels
5145	PDE6A	HP:0007994	Peripheral visual field loss
5145	PDE6A	HP:0000407	Sensorineural hearing impairment
5145	PDE6A	HP:0000405	Conductive hearing impairment
5145	PDE6A	HP:0000463	Anteverted nares
5145	PDE6A	HP:0000431	Wide nasal bridge
5145	PDE6A	HP:0000518	Cataract
5145	PDE6A	HP:0000510	Rod-cone dystrophy
5145	PDE6A	HP:0000512	Abnormal electroretinogram
5145	PDE6A	HP:0000505	Visual impairment
5145	PDE6A	HP:0000501	Glaucoma
5145	PDE6A	HP:0000580	Pigmentary retinopathy
5145	PDE6A	HP:0000563	Keratoconus
5145	PDE6A	HP:0000543	Optic disc pallor
5146	PDE6C	HP:0001103	Abnormal macular morphology
5146	PDE6C	HP:0012043	Pendular nystagmus
5146	PDE6C	HP:0000007	Autosomal recessive inheritance
5146	PDE6C	HP:0007663	Reduced visual acuity
5146	PDE6C	HP:0007641	Dyschromatopsia
5146	PDE6C	HP:0000639	Nystagmus
5146	PDE6C	HP:0000613	Photophobia
5146	PDE6C	HP:0000603	Central scotoma
5146	PDE6C	HP:0030465	Undetectable light-adapted electroretinogram
5146	PDE6C	HP:0030620	Inner retinal layer loss on macular OCT
5146	PDE6C	HP:0030584	Color vision test abnormality
5146	PDE6C	HP:0011463	Childhood onset
5146	PDE6C	HP:0030825	Absent foveal reflex
5146	PDE6C	HP:0007722	Retinal pigment epithelial atrophy
5146	PDE6C	HP:0007703	Abnormality of retinal pigmentation
5146	PDE6C	HP:0025549	Eccentric visual fixation
5146	PDE6C	HP:0007750	Hypoplasia of the fovea
5146	PDE6C	HP:0007695	Abnormal pupillary light reflex
5146	PDE6C	HP:0007843	Attenuation of retinal blood vessels
5146	PDE6C	HP:0007814	Retinal pigment epithelial mottling
5146	PDE6C	HP:0007803	Monochromacy
5146	PDE6C	HP:0000512	Abnormal electroretinogram
5146	PDE6C	HP:0000505	Visual impairment
5146	PDE6C	HP:0000540	Hypermetropia
5146	PDE6C	HP:0000539	Abnormality of refraction
5146	PDE6C	HP:0000551	Color vision defect
5146	PDE6C	HP:0000548	Cone/cone-rod dystrophy
5146	PDE6C	HP:0000545	Myopia
5147	PDE6D	HP:0001156	Brachydactyly
5147	PDE6D	HP:0001162	Postaxial hand polydactyly
5147	PDE6D	HP:0001161	Hand polydactyly
5147	PDE6D	HP:0001159	Syndactyly
5147	PDE6D	HP:0002444	Hypothalamic hamartoma
5147	PDE6D	HP:0002419	Molar tooth sign on MRI
5147	PDE6D	HP:0001290	Generalized hypotonia
5147	PDE6D	HP:0001288	Gait disturbance
5147	PDE6D	HP:0001250	Seizure
5147	PDE6D	HP:0001252	Hypotonia
5147	PDE6D	HP:0001251	Ataxia
5147	PDE6D	HP:0001249	Intellectual disability
5147	PDE6D	HP:0001263	Global developmental delay
5147	PDE6D	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
5147	PDE6D	HP:0008689	Bilateral cryptorchidism
5147	PDE6D	HP:0008678	Renal hypoplasia/aplasia
5147	PDE6D	HP:0002553	Highly arched eyebrow
5147	PDE6D	HP:0000089	Renal hypoplasia
5147	PDE6D	HP:0008872	Feeding difficulties in infancy
5147	PDE6D	HP:0006145	Central Y-shaped metacarpal
5147	PDE6D	HP:0000007	Autosomal recessive inheritance
5147	PDE6D	HP:0001337	Tremor
5147	PDE6D	HP:0001320	Cerebellar vermis hypoplasia
5147	PDE6D	HP:0000180	Lobulated tongue
5147	PDE6D	HP:0000199	Tongue nodules
5147	PDE6D	HP:0000190	Abnormal oral frenulum morphology
5147	PDE6D	HP:0000175	Cleft palate
5147	PDE6D	HP:0000104	Renal agenesis
5147	PDE6D	HP:0004691	2-3 toe syndactyly
5147	PDE6D	HP:0002007	Frontal bossing
5147	PDE6D	HP:0011802	Hamartoma of tongue
5147	PDE6D	HP:0002079	Hypoplasia of the corpus callosum
5147	PDE6D	HP:0002104	Apnea
5147	PDE6D	HP:0002269	Abnormality of neuronal migration
5147	PDE6D	HP:0003577	Congenital onset
5147	PDE6D	HP:0007036	Hypoplasia of olfactory tract
5147	PDE6D	HP:0002335	Agenesis of cerebellar vermis
5147	PDE6D	HP:0007112	Temporal cortical atrophy
5147	PDE6D	HP:0009084	Midline notch of upper alveolar ridge
5147	PDE6D	HP:0000639	Nystagmus
5147	PDE6D	HP:0000657	Oculomotor apraxia
5147	PDE6D	HP:0001999	Abnormal facial shape
5147	PDE6D	HP:0004322	Short stature
5147	PDE6D	HP:0004422	Biparietal narrowing
5147	PDE6D	HP:0040019	Finger clinodactyly
5147	PDE6D	HP:0100260	Mesoaxial polydactyly
5147	PDE6D	HP:0100258	Preaxial polydactyly
5147	PDE6D	HP:0000286	Epicanthus
5147	PDE6D	HP:0000276	Long face
5147	PDE6D	HP:0000218	High palate
5147	PDE6D	HP:0002876	Episodic tachypnea
5147	PDE6D	HP:0001508	Failure to thrive
5147	PDE6D	HP:0001511	Intrauterine growth retardation
5147	PDE6D	HP:0001510	Growth delay
5147	PDE6D	HP:0000368	Low-set, posteriorly rotated ears
5147	PDE6D	HP:0000347	Micrognathia
5147	PDE6D	HP:0000316	Hypertelorism
5147	PDE6D	HP:0001627	Abnormal heart morphology
5147	PDE6D	HP:0007973	Retinal dysplasia
5147	PDE6D	HP:0000405	Conductive hearing impairment
5147	PDE6D	HP:0000455	Broad nasal tip
5147	PDE6D	HP:0000426	Prominent nasal bridge
5147	PDE6D	HP:0001829	Foot polydactyly
5147	PDE6D	HP:0001830	Postaxial foot polydactyly
5147	PDE6D	HP:0000589	Coloboma
5147	PDE6D	HP:0000568	Microphthalmia
5147	PDE6D	HP:0000565	Esotropia
5147	PDE6D	HP:0000550	Undetectable electroretinogram
5148	PDE6G	HP:0001133	Constriction of peripheral visual field
5148	PDE6G	HP:0001249	Intellectual disability
5148	PDE6G	HP:0008736	Hypoplasia of penis
5148	PDE6G	HP:0001347	Hyperreflexia
5148	PDE6G	HP:0000035	Abnormal testis morphology
5148	PDE6G	HP:0000007	Autosomal recessive inheritance
5148	PDE6G	HP:0000006	Autosomal dominant inheritance
5148	PDE6G	HP:0000135	Hypogonadism
5148	PDE6G	HP:0007675	Progressive night blindness
5148	PDE6G	HP:0007663	Reduced visual acuity
5148	PDE6G	HP:0001419	X-linked recessive inheritance
5148	PDE6G	HP:0005978	Type II diabetes mellitus
5148	PDE6G	HP:0000639	Nystagmus
5148	PDE6G	HP:0000648	Optic atrophy
5148	PDE6G	HP:0000618	Blindness
5148	PDE6G	HP:0000613	Photophobia
5148	PDE6G	HP:0000602	Ophthalmoplegia
5148	PDE6G	HP:0000662	Nyctalopia
5148	PDE6G	HP:0011463	Childhood onset
5148	PDE6G	HP:0011505	Cystoid macular edema
5148	PDE6G	HP:0000842	Hyperinsulinemia
5148	PDE6G	HP:0030825	Absent foveal reflex
5148	PDE6G	HP:0000987	Atypical scarring of skin
5148	PDE6G	HP:0008046	Abnormal retinal vascular morphology
5148	PDE6G	HP:0007703	Abnormality of retinal pigmentation
5148	PDE6G	HP:0007737	Bone spicule pigmentation of the retina
5148	PDE6G	HP:0001513	Obesity
5148	PDE6G	HP:0007843	Attenuation of retinal blood vessels
5148	PDE6G	HP:0031605	Abnormality of fundus pigmentation
5148	PDE6G	HP:0000407	Sensorineural hearing impairment
5148	PDE6G	HP:0000405	Conductive hearing impairment
5148	PDE6G	HP:0000463	Anteverted nares
5148	PDE6G	HP:0000431	Wide nasal bridge
5148	PDE6G	HP:0000518	Cataract
5148	PDE6G	HP:0000510	Rod-cone dystrophy
5148	PDE6G	HP:0000512	Abnormal electroretinogram
5148	PDE6G	HP:0000505	Visual impairment
5148	PDE6G	HP:0000501	Glaucoma
5148	PDE6G	HP:0000563	Keratoconus
5148	PDE6G	HP:0000543	Optic disc pallor
5149	PDE6H	HP:0001103	Abnormal macular morphology
5149	PDE6H	HP:0012043	Pendular nystagmus
5149	PDE6H	HP:0000007	Autosomal recessive inheritance
5149	PDE6H	HP:0000006	Autosomal dominant inheritance
5149	PDE6H	HP:0007663	Reduced visual acuity
5149	PDE6H	HP:0007641	Dyschromatopsia
5149	PDE6H	HP:0003621	Juvenile onset
5149	PDE6H	HP:0000639	Nystagmus
5149	PDE6H	HP:0000613	Photophobia
5149	PDE6H	HP:0000603	Central scotoma
5149	PDE6H	HP:0030465	Undetectable light-adapted electroretinogram
5149	PDE6H	HP:0030473	Abnormal light-adapted flicker electroretinogram
5149	PDE6H	HP:0000662	Nyctalopia
5149	PDE6H	HP:0030620	Inner retinal layer loss on macular OCT
5149	PDE6H	HP:0030584	Color vision test abnormality
5149	PDE6H	HP:0030825	Absent foveal reflex
5149	PDE6H	HP:0008020	Cone dystrophy
5149	PDE6H	HP:0007722	Retinal pigment epithelial atrophy
5149	PDE6H	HP:0025549	Eccentric visual fixation
5149	PDE6H	HP:0007750	Hypoplasia of the fovea
5149	PDE6H	HP:0007695	Abnormal pupillary light reflex
5149	PDE6H	HP:0007843	Attenuation of retinal blood vessels
5149	PDE6H	HP:0007814	Retinal pigment epithelial mottling
5149	PDE6H	HP:0007803	Monochromacy
5149	PDE6H	HP:0011003	High myopia
5149	PDE6H	HP:0000540	Hypermetropia
5149	PDE6H	HP:0000539	Abnormality of refraction
5149	PDE6H	HP:0000551	Color vision defect
5149	PDE6H	HP:0000545	Myopia
5155	PDGFB	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
5155	PDGFB	HP:0007256	Abnormal pyramidal sign
5155	PDGFB	HP:0002406	Limb dysmetria
5155	PDGFB	HP:0001269	Hemiparesis
5155	PDGFB	HP:0001268	Mental deterioration
5155	PDGFB	HP:0001288	Gait disturbance
5155	PDGFB	HP:0001279	Syncope
5155	PDGFB	HP:0001250	Seizure
5155	PDGFB	HP:0001251	Ataxia
5155	PDGFB	HP:0001260	Dysarthria
5155	PDGFB	HP:0001263	Global developmental delay
5155	PDGFB	HP:0001262	Excessive daytime somnolence
5155	PDGFB	HP:0010997	Chromosomal breakage induced by ionizing radiation
5155	PDGFB	HP:0007359	Focal-onset seizure
5155	PDGFB	HP:0007340	Lower limb muscle weakness
5155	PDGFB	HP:0002516	Increased intracranial pressure
5155	PDGFB	HP:0002514	Cerebral calcification
5155	PDGFB	HP:0002512	Brain stem compression
5155	PDGFB	HP:0003829	Typified by incomplete penetrance
5155	PDGFB	HP:0002504	Calcification of the small brain vessels
5155	PDGFB	HP:0001392	Abnormality of the liver
5155	PDGFB	HP:0000044	Hypogonadotropic hypogonadism
5155	PDGFB	HP:0000020	Urinary incontinence
5155	PDGFB	HP:0001347	Hyperreflexia
5155	PDGFB	HP:0001332	Dystonia
5155	PDGFB	HP:0001342	Cerebral hemorrhage
5155	PDGFB	HP:0001337	Tremor
5155	PDGFB	HP:0000006	Autosomal dominant inheritance
5155	PDGFB	HP:0001317	Abnormal cerebellum morphology
5155	PDGFB	HP:0001300	Parkinsonism
5155	PDGFB	HP:0000141	Amenorrhea
5155	PDGFB	HP:0001482	Subcutaneous nodule
5155	PDGFB	HP:0002017	Nausea and vomiting
5155	PDGFB	HP:0100543	Cognitive impairment
5155	PDGFB	HP:0002067	Bradykinesia
5155	PDGFB	HP:0002063	Rigidity
5155	PDGFB	HP:0002076	Migraine
5155	PDGFB	HP:0002075	Dysdiadochokinesis
5155	PDGFB	HP:0002072	Chorea
5155	PDGFB	HP:0011752	Neoplasm of the posterior pituitary
5155	PDGFB	HP:0011750	Neoplasm of the anterior pituitary
5155	PDGFB	HP:0011730	Abnormal central sensory function
5155	PDGFB	HP:0008163	Decreased circulating cortisol level
5155	PDGFB	HP:0003484	Upper limb muscle weakness
5155	PDGFB	HP:0002119	Ventriculomegaly
5155	PDGFB	HP:0002135	Basal ganglia calcification
5155	PDGFB	HP:0003418	Back pain
5155	PDGFB	HP:0002167	Abnormality of speech or vocalization
5155	PDGFB	HP:0002172	Postural instability
5155	PDGFB	HP:0008240	Secondary growth hormone deficiency
5155	PDGFB	HP:0008245	Pituitary hypothyroidism
5155	PDGFB	HP:0008237	Hypothalamic hypothyroidism
5155	PDGFB	HP:0010534	Transient global amnesia
5155	PDGFB	HP:0008214	Decreased serum estradiol
5155	PDGFB	HP:0008202	Reduced circulating prolactin concentration
5155	PDGFB	HP:0002269	Abnormality of neuronal migration
5155	PDGFB	HP:0002240	Hepatomegaly
5155	PDGFB	HP:0003581	Adult onset
5155	PDGFB	HP:0010628	Facial palsy
5155	PDGFB	HP:0001067	Neurofibromas
5155	PDGFB	HP:0003676	Progressive
5155	PDGFB	HP:0002355	Difficulty walking
5155	PDGFB	HP:0002354	Memory impairment
5155	PDGFB	HP:0002321	Vertigo
5155	PDGFB	HP:0002315	Headache
5155	PDGFB	HP:0100648	Neoplasm of the tongue
5155	PDGFB	HP:0100660	Dyskinesia
5155	PDGFB	HP:0100661	Trigeminal neuralgia
5155	PDGFB	HP:0010828	Hemifacial spasm
5155	PDGFB	HP:0001072	Thickened skin
5155	PDGFB	HP:0200042	Skin ulcer
5155	PDGFB	HP:0001085	Papilledema
5155	PDGFB	HP:0010783	Erythema
5155	PDGFB	HP:0002305	Athetosis
5155	PDGFB	HP:0030521	Bitemporal hemianopia
5155	PDGFB	HP:0006824	Cranial nerve paralysis
5155	PDGFB	HP:0030532	Visual acuity test abnormality
5155	PDGFB	HP:0000618	Blindness
5155	PDGFB	HP:0001933	Subcutaneous hemorrhage
5155	PDGFB	HP:0000602	Ophthalmoplegia
5155	PDGFB	HP:0012691	Focal T2 hypointense thalamic lesion
5155	PDGFB	HP:0012658	Abnormal brain FDG positron emission tomography
5155	PDGFB	HP:0004302	Functional motor deficit
5155	PDGFB	HP:0000802	Impotence
5155	PDGFB	HP:0004363	Abnormal circulating calcium concentration
5155	PDGFB	HP:0031908	Micrographia
5155	PDGFB	HP:0100010	Spinal meningioma
5155	PDGFB	HP:0100009	Intracranial meningioma
5155	PDGFB	HP:0100034	Motor tics
5155	PDGFB	HP:0000739	Anxiety
5155	PDGFB	HP:0000741	Apathy
5155	PDGFB	HP:0000716	Depression
5155	PDGFB	HP:0000712	Emotional lability
5155	PDGFB	HP:0000726	Dementia
5155	PDGFB	HP:0000709	Psychosis
5155	PDGFB	HP:0030591	Abnormal kinetic perimetry test
5155	PDGFB	HP:0011463	Childhood onset
5155	PDGFB	HP:0011442	Abnormal central motor function
5155	PDGFB	HP:0030766	Ear pain
5155	PDGFB	HP:0004408	Abnormality of the sense of smell
5155	PDGFB	HP:0000870	Increased circulating prolactin concentration
5155	PDGFB	HP:0030878	Abnormality on pulmonary function testing
5155	PDGFB	HP:0045026	Abnormal mediastinum morphology
5155	PDGFB	HP:0100244	Fibrosarcoma
5155	PDGFB	HP:0040171	Decreased serum testosterone concentration
5155	PDGFB	HP:0008069	Neoplasm of the skin
5155	PDGFB	HP:0007715	Weak extraocular muscles
5155	PDGFB	HP:0012285	Abnormal hypothalamus physiology
5155	PDGFB	HP:0000298	Mask-like facies
5155	PDGFB	HP:0012246	Oculomotor nerve palsy
5155	PDGFB	HP:0000238	Hydrocephalus
5155	PDGFB	HP:0000252	Microcephaly
5155	PDGFB	HP:0002858	Meningioma
5155	PDGFB	HP:0001511	Intrauterine growth retardation
5155	PDGFB	HP:0001513	Obesity
5155	PDGFB	HP:0006520	Progressive pulmonary function impairment
5155	PDGFB	HP:0002920	Decreased circulating ACTH level
5155	PDGFB	HP:0000360	Tinnitus
5155	PDGFB	HP:0007957	Corneal opacity
5155	PDGFB	HP:0007924	Slow decrease in visual acuity
5155	PDGFB	HP:0011133	Increased sensitivity to ionizing radiation
5155	PDGFB	HP:0012505	Enlarged pituitary gland
5155	PDGFB	HP:0000520	Proptosis
5155	PDGFB	HP:0030344	Decreased circulating luteinizing hormone level
5155	PDGFB	HP:0030341	Decreased circulating follicle stimulating hormone concentration
5155	PDGFB	HP:0001873	Thrombocytopenia
5156	PDGFRA	HP:0003745	Sporadic
5156	PDGFRA	HP:0100833	Neoplasm of the small intestine
5156	PDGFRA	HP:0002576	Intussusception
5156	PDGFRA	HP:0007400	Irregular hyperpigmentation
5156	PDGFRA	HP:0007378	Neoplasm of the gastrointestinal tract
5156	PDGFRA	HP:0001392	Abnormality of the liver
5156	PDGFRA	HP:0008872	Feeding difficulties in infancy
5156	PDGFRA	HP:0000006	Autosomal dominant inheritance
5156	PDGFRA	HP:0000175	Cleft palate
5156	PDGFRA	HP:0006342	Peg-shaped maxillary lateral incisors
5156	PDGFRA	HP:0006292	Abnormality of dental eruption
5156	PDGFRA	HP:0001428	Somatic mutation
5156	PDGFRA	HP:0002019	Constipation
5156	PDGFRA	HP:0002017	Nausea and vomiting
5156	PDGFRA	HP:0002033	Poor suck
5156	PDGFRA	HP:0003326	Myalgia
5156	PDGFRA	HP:0002015	Dysphagia
5156	PDGFRA	HP:0002113	Pulmonary infiltrates
5156	PDGFRA	HP:0002240	Hepatomegaly
5156	PDGFRA	HP:0002239	Gastrointestinal hemorrhage
5156	PDGFRA	HP:0200153	Agenesis of lateral incisor
5156	PDGFRA	HP:0200136	Oral-pharyngeal dysphagia
5156	PDGFRA	HP:0100723	Gastrointestinal stroma tumor
5156	PDGFRA	HP:0100751	Esophageal neoplasm
5156	PDGFRA	HP:0100743	Neoplasm of the rectum
5156	PDGFRA	HP:0200008	Intestinal polyposis
5156	PDGFRA	HP:0004936	Venous thrombosis
5156	PDGFRA	HP:0009088	Speech articulation difficulties
5156	PDGFRA	HP:0005547	Myeloproliferative disorder
5156	PDGFRA	HP:0001903	Anemia
5156	PDGFRA	HP:0000689	Dental malocclusion
5156	PDGFRA	HP:0004395	Malnutrition
5156	PDGFRA	HP:0000750	Delayed speech and language development
5156	PDGFRA	HP:0000707	Abnormality of the nervous system
5156	PDGFRA	HP:0100337	Bilateral cleft palate
5156	PDGFRA	HP:0100334	Unilateral cleft palate
5156	PDGFRA	HP:0010294	Palate fistula
5156	PDGFRA	HP:0100273	Neoplasm of the colon
5156	PDGFRA	HP:0000989	Pruritus
5156	PDGFRA	HP:0000988	Skin rash
5156	PDGFRA	HP:0100242	Sarcoma
5156	PDGFRA	HP:0000220	Velopharyngeal insufficiency
5156	PDGFRA	HP:0000202	Orofacial cleft
5156	PDGFRA	HP:0012378	Fatigue
5156	PDGFRA	HP:0011044	Abnormal number of permanent teeth
5156	PDGFRA	HP:0005214	Intestinal obstruction
5156	PDGFRA	HP:0001611	Hypernasal speech
5156	PDGFRA	HP:0000327	Hypoplasia of the maxilla
5156	PDGFRA	HP:0006685	Endocardial fibrosis
5156	PDGFRA	HP:0001723	Restrictive cardiomyopathy
5156	PDGFRA	HP:0000403	Recurrent otitis media
5156	PDGFRA	HP:0000405	Conductive hearing impairment
5156	PDGFRA	HP:0001744	Splenomegaly
5156	PDGFRA	HP:0006753	Neoplasm of the stomach
5156	PDGFRA	HP:0001880	Eosinophilia
5157	PDGFRL	HP:0000006	Autosomal dominant inheritance
5157	PDGFRL	HP:0001428	Somatic mutation
5157	PDGFRL	HP:0001402	Hepatocellular carcinoma
5157	PDGFRL	HP:0001413	Micronodular cirrhosis
5157	PDGFRL	HP:0005584	Renal cell carcinoma
5157	PDGFRL	HP:0002891	Uterine leiomyosarcoma
5157	PDGFRL	HP:0006572	Subacute progressive viral hepatitis
5157	PDGFRL	HP:0006753	Neoplasm of the stomach
5157	PDGFRL	HP:0006740	Transitional cell carcinoma of the bladder
5157	PDGFRL	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
5158	PDE6B	HP:0001249	Intellectual disability
5158	PDE6B	HP:0008736	Hypoplasia of penis
5158	PDE6B	HP:0001347	Hyperreflexia
5158	PDE6B	HP:0000035	Abnormal testis morphology
5158	PDE6B	HP:0000007	Autosomal recessive inheritance
5158	PDE6B	HP:0000006	Autosomal dominant inheritance
5158	PDE6B	HP:0000135	Hypogonadism
5158	PDE6B	HP:0007675	Progressive night blindness
5158	PDE6B	HP:0007663	Reduced visual acuity
5158	PDE6B	HP:0007642	Congenital stationary night blindness
5158	PDE6B	HP:0005978	Type II diabetes mellitus
5158	PDE6B	HP:0008323	Abnormal light- and dark-adapted electroretinogram
5158	PDE6B	HP:0001098	Abnormal fundus morphology
5158	PDE6B	HP:0000639	Nystagmus
5158	PDE6B	HP:0000648	Optic atrophy
5158	PDE6B	HP:0000618	Blindness
5158	PDE6B	HP:0000613	Photophobia
5158	PDE6B	HP:0000602	Ophthalmoplegia
5158	PDE6B	HP:0030469	Abnormal dark-adapted electroretinogram
5158	PDE6B	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
5158	PDE6B	HP:0000662	Nyctalopia
5158	PDE6B	HP:0030639	Congenital stationary night blindness with abnormal fundus
5158	PDE6B	HP:0030638	Congenital stationary night blindness with normal fundus
5158	PDE6B	HP:0011463	Childhood onset
5158	PDE6B	HP:0000842	Hyperinsulinemia
5158	PDE6B	HP:0000987	Atypical scarring of skin
5158	PDE6B	HP:0008046	Abnormal retinal vascular morphology
5158	PDE6B	HP:0007703	Abnormality of retinal pigmentation
5158	PDE6B	HP:0007737	Bone spicule pigmentation of the retina
5158	PDE6B	HP:0001513	Obesity
5158	PDE6B	HP:0007843	Attenuation of retinal blood vessels
5158	PDE6B	HP:0030329	Retinal thinning
5158	PDE6B	HP:0007984	Electronegative electroretinogram
5158	PDE6B	HP:0000407	Sensorineural hearing impairment
5158	PDE6B	HP:0000405	Conductive hearing impairment
5158	PDE6B	HP:0000486	Strabismus
5158	PDE6B	HP:0000463	Anteverted nares
5158	PDE6B	HP:0000431	Wide nasal bridge
5158	PDE6B	HP:0031705	Compensatory head posture
5158	PDE6B	HP:0000518	Cataract
5158	PDE6B	HP:0000510	Rod-cone dystrophy
5158	PDE6B	HP:0000512	Abnormal electroretinogram
5158	PDE6B	HP:0000505	Visual impairment
5158	PDE6B	HP:0000501	Glaucoma
5158	PDE6B	HP:0000563	Keratoconus
5158	PDE6B	HP:0000540	Hypermetropia
5158	PDE6B	HP:0000551	Color vision defect
5158	PDE6B	HP:0000545	Myopia
5159	PDGFRB	HP:0001156	Brachydactyly
5159	PDGFRB	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
5159	PDGFRB	HP:0001114	Xanthelasma
5159	PDGFRB	HP:0010941	Aplasia of the nasal bone
5159	PDGFRB	HP:0007302	Bipolar affective disorder
5159	PDGFRB	HP:0007256	Abnormal pyramidal sign
5159	PDGFRB	HP:0009882	Short distal phalanx of finger
5159	PDGFRB	HP:0002406	Limb dysmetria
5159	PDGFRB	HP:0007291	Posterior fossa cyst
5159	PDGFRB	HP:0001268	Mental deterioration
5159	PDGFRB	HP:0001288	Gait disturbance
5159	PDGFRB	HP:0100835	Benign neoplasm of the central nervous system
5159	PDGFRB	HP:0001250	Seizure
5159	PDGFRB	HP:0001249	Intellectual disability
5159	PDGFRB	HP:0001260	Dysarthria
5159	PDGFRB	HP:0001263	Global developmental delay
5159	PDGFRB	HP:0002575	Tracheoesophageal fistula
5159	PDGFRB	HP:0008765	Auditory hallucinations
5159	PDGFRB	HP:0007400	Irregular hyperpigmentation
5159	PDGFRB	HP:0002514	Cerebral calcification
5159	PDGFRB	HP:0002504	Calcification of the small brain vessels
5159	PDGFRB	HP:0000098	Tall stature
5159	PDGFRB	HP:0012062	Bone cyst
5159	PDGFRB	HP:0001392	Abnormality of the liver
5159	PDGFRB	HP:0000077	Abnormality of the kidney
5159	PDGFRB	HP:0012040	Corneal stromal edema
5159	PDGFRB	HP:0001376	Limitation of joint mobility
5159	PDGFRB	HP:0000020	Urinary incontinence
5159	PDGFRB	HP:0001347	Hyperreflexia
5159	PDGFRB	HP:0007495	Prematurely aged appearance
5159	PDGFRB	HP:0001332	Dystonia
5159	PDGFRB	HP:0001337	Tremor
5159	PDGFRB	HP:0000006	Autosomal dominant inheritance
5159	PDGFRB	HP:0002650	Scoliosis
5159	PDGFRB	HP:0002645	Wormian bones
5159	PDGFRB	HP:0001300	Parkinsonism
5159	PDGFRB	HP:0000169	Gingival fibromatosis
5159	PDGFRB	HP:0002797	Osteolysis
5159	PDGFRB	HP:0001482	Subcutaneous nodule
5159	PDGFRB	HP:0002757	Recurrent fractures
5159	PDGFRB	HP:0002750	Delayed skeletal maturation
5159	PDGFRB	HP:0002007	Frontal bossing
5159	PDGFRB	HP:0100526	Neoplasm of the lung
5159	PDGFRB	HP:0011800	Midface retrusion
5159	PDGFRB	HP:0002067	Bradykinesia
5159	PDGFRB	HP:0002063	Rigidity
5159	PDGFRB	HP:0002076	Migraine
5159	PDGFRB	HP:0002075	Dysdiadochokinesis
5159	PDGFRB	HP:0002072	Chorea
5159	PDGFRB	HP:0100578	Lipoatrophy
5159	PDGFRB	HP:0002119	Ventriculomegaly
5159	PDGFRB	HP:0002135	Basal ganglia calcification
5159	PDGFRB	HP:0002172	Postural instability
5159	PDGFRB	HP:0010562	Keloids
5159	PDGFRB	HP:0010539	Thin calvarium
5159	PDGFRB	HP:0010500	Hyperextensibility of the knee
5159	PDGFRB	HP:0011829	Narrow philtrum
5159	PDGFRB	HP:0003596	Middle age onset
5159	PDGFRB	HP:0003593	Infantile onset
5159	PDGFRB	HP:0002269	Abnormality of neuronal migration
5159	PDGFRB	HP:0003577	Congenital onset
5159	PDGFRB	HP:0002242	Abnormal intestine morphology
5159	PDGFRB	HP:0002240	Hepatomegaly
5159	PDGFRB	HP:0100702	Arachnoid cyst
5159	PDGFRB	HP:0003584	Late onset
5159	PDGFRB	HP:0003581	Adult onset
5159	PDGFRB	HP:0007018	Attention deficit hyperactivity disorder
5159	PDGFRB	HP:0010614	Fibroma
5159	PDGFRB	HP:0001030	Fragile skin
5159	PDGFRB	HP:0002344	Progressive neurologic deterioration
5159	PDGFRB	HP:0003676	Progressive
5159	PDGFRB	HP:0002354	Memory impairment
5159	PDGFRB	HP:0001015	Prominent superficial veins
5159	PDGFRB	HP:0200036	Skin nodule
5159	PDGFRB	HP:0009839	Osteolytic defects of the distal phalanges of the hand
5159	PDGFRB	HP:0001072	Thickened skin
5159	PDGFRB	HP:0200042	Skin ulcer
5159	PDGFRB	HP:0002305	Athetosis
5159	PDGFRB	HP:0003621	Juvenile onset
5159	PDGFRB	HP:0020135	Myofibromatosis
5159	PDGFRB	HP:0004279	Short palm
5159	PDGFRB	HP:0005547	Myeloproliferative disorder
5159	PDGFRB	HP:0001933	Subcutaneous hemorrhage
5159	PDGFRB	HP:0000601	Hypotelorism
5159	PDGFRB	HP:0000684	Delayed eruption of teeth
5159	PDGFRB	HP:0000666	Horizontal nystagmus
5159	PDGFRB	HP:0004334	Dermal atrophy
5159	PDGFRB	HP:0006951	Retrocerebellar cyst
5159	PDGFRB	HP:0003072	Hypercalcemia
5159	PDGFRB	HP:0004363	Abnormal circulating calcium concentration
5159	PDGFRB	HP:0031908	Micrographia
5159	PDGFRB	HP:0004374	Hemiplegia/hemiparesis
5159	PDGFRB	HP:0003011	Abnormality of the musculature
5159	PDGFRB	HP:0000765	Abnormal thorax morphology
5159	PDGFRB	HP:0000739	Anxiety
5159	PDGFRB	HP:0000716	Depression
5159	PDGFRB	HP:0000726	Dementia
5159	PDGFRB	HP:0000709	Psychosis
5159	PDGFRB	HP:0012785	Flexion contracture of finger
5159	PDGFRB	HP:0011463	Childhood onset
5159	PDGFRB	HP:0011462	Young adult onset
5159	PDGFRB	HP:0003100	Slender long bone
5159	PDGFRB	HP:0003196	Short nose
5159	PDGFRB	HP:0000929	Abnormal skull morphology
5159	PDGFRB	HP:0000891	Cervical ribs
5159	PDGFRB	HP:0000883	Thin ribs
5159	PDGFRB	HP:0034392	Joint contracture
5159	PDGFRB	HP:0000972	Palmoplantar hyperkeratosis
5159	PDGFRB	HP:0000974	Hyperextensible skin
5159	PDGFRB	HP:0000963	Thin skin
5159	PDGFRB	HP:0000962	Hyperkeratosis
5159	PDGFRB	HP:0000939	Osteoporosis
5159	PDGFRB	HP:0000934	Chondrocalcinosis
5159	PDGFRB	HP:0100242	Sarcoma
5159	PDGFRB	HP:0000944	Abnormal metaphysis morphology
5159	PDGFRB	HP:0008070	Sparse hair
5159	PDGFRB	HP:0008069	Neoplasm of the skin
5159	PDGFRB	HP:0000278	Retrognathia
5159	PDGFRB	HP:0000298	Mask-like facies
5159	PDGFRB	HP:0001595	Abnormal hair morphology
5159	PDGFRB	HP:0000256	Macrocephaly
5159	PDGFRB	HP:0000271	Abnormality of the face
5159	PDGFRB	HP:0000270	Delayed cranial suture closure
5159	PDGFRB	HP:0005107	Abnormal sacrum morphology
5159	PDGFRB	HP:0000252	Microcephaly
5159	PDGFRB	HP:0001548	Overgrowth
5159	PDGFRB	HP:0000219	Thin upper lip vermilion
5159	PDGFRB	HP:0002894	Neoplasm of the pancreas
5159	PDGFRB	HP:0000233	Thin vermilion border
5159	PDGFRB	HP:0001508	Failure to thrive
5159	PDGFRB	HP:0001511	Intrauterine growth retardation
5159	PDGFRB	HP:0005214	Intestinal obstruction
5159	PDGFRB	HP:0002944	Thoracolumbar scoliosis
5159	PDGFRB	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
5159	PDGFRB	HP:0000336	Prominent supraorbital ridges
5159	PDGFRB	HP:0000347	Micrognathia
5159	PDGFRB	HP:0002982	Tibial bowing
5159	PDGFRB	HP:0000316	Hypertelorism
5159	PDGFRB	HP:0000327	Hypoplasia of the maxilla
5159	PDGFRB	HP:0000307	Pointed chin
5159	PDGFRB	HP:0007957	Corneal opacity
5159	PDGFRB	HP:0007922	Hypermyelinated retinal nerve fibers
5159	PDGFRB	HP:0000407	Sensorineural hearing impairment
5159	PDGFRB	HP:0005280	Depressed nasal bridge
5159	PDGFRB	HP:0000478	Abnormality of the eye
5159	PDGFRB	HP:0000494	Downslanted palpebral fissures
5159	PDGFRB	HP:0000460	Narrow nose
5159	PDGFRB	HP:0001773	Short foot
5159	PDGFRB	HP:0000444	Convex nasal ridge
5159	PDGFRB	HP:0000431	Wide nasal bridge
5159	PDGFRB	HP:0000426	Prominent nasal bridge
5159	PDGFRB	HP:0006782	Malignant eosinophil proliferation
5159	PDGFRB	HP:0000520	Proptosis
5159	PDGFRB	HP:0000508	Ptosis
5159	PDGFRB	HP:0001833	Long foot
5159	PDGFRB	HP:0000586	Shallow orbits
5159	PDGFRB	HP:0011220	Prominent forehead
5159	PDGFRB	HP:0000568	Microphthalmia
5159	PDGFRB	HP:0000540	Hypermetropia
5159	PDGFRB	HP:0001880	Eosinophilia
5159	PDGFRB	HP:0001873	Thrombocytopenia
5160	PDHA1	HP:0002490	Increased CSF lactate
5160	PDHA1	HP:0010864	Intellectual disability, severe
5160	PDHA1	HP:0002415	Leukodystrophy
5160	PDHA1	HP:0001290	Generalized hypotonia
5160	PDHA1	HP:0001274	Agenesis of corpus callosum
5160	PDHA1	HP:0001254	Lethargy
5160	PDHA1	HP:0001250	Seizure
5160	PDHA1	HP:0001252	Hypotonia
5160	PDHA1	HP:0001251	Ataxia
5160	PDHA1	HP:0001249	Intellectual disability
5160	PDHA1	HP:0001266	Choreoathetosis
5160	PDHA1	HP:0001260	Dysarthria
5160	PDHA1	HP:0001263	Global developmental delay
5160	PDHA1	HP:0001257	Spasticity
5160	PDHA1	HP:0002540	Inability to walk
5160	PDHA1	HP:0002521	Hypsarrhythmia
5160	PDHA1	HP:0500231	Abnormal CSF pyruvate family amino acid concentration
5160	PDHA1	HP:0025361	Abnormality of medullary pyramid morphology
5160	PDHA1	HP:0001371	Flexion contracture
5160	PDHA1	HP:0001347	Hyperreflexia
5160	PDHA1	HP:0001332	Dystonia
5160	PDHA1	HP:0001338	Partial agenesis of the corpus callosum
5160	PDHA1	HP:0001337	Tremor
5160	PDHA1	HP:0001336	Myoclonus
5160	PDHA1	HP:0002643	Neonatal respiratory distress
5160	PDHA1	HP:0012128	Basal ganglia necrosis
5160	PDHA1	HP:0008972	Decreased activity of mitochondrial respiratory chain
5160	PDHA1	HP:0001423	X-linked dominant inheritance
5160	PDHA1	HP:0002719	Recurrent infections
5160	PDHA1	HP:0002020	Gastroesophageal reflux
5160	PDHA1	HP:0003348	Hyperalaninemia
5160	PDHA1	HP:0002007	Frontal bossing
5160	PDHA1	HP:0030917	Low APGAR score
5160	PDHA1	HP:0002069	Bilateral tonic-clonic seizure
5160	PDHA1	HP:0002079	Hypoplasia of the corpus callosum
5160	PDHA1	HP:0002073	Progressive cerebellar ataxia
5160	PDHA1	HP:0002059	Cerebral atrophy
5160	PDHA1	HP:0002151	Increased serum lactate
5160	PDHA1	HP:0002119	Ventriculomegaly
5160	PDHA1	HP:0002131	Episodic ataxia
5160	PDHA1	HP:0002126	Polymicrogyria
5160	PDHA1	HP:0002100	Recurrent aspiration pneumonia
5160	PDHA1	HP:0002104	Apnea
5160	PDHA1	HP:0002187	Intellectual disability, profound
5160	PDHA1	HP:0002171	Gliosis
5160	PDHA1	HP:0010576	Intracranial cystic lesion
5160	PDHA1	HP:0003593	Infantile onset
5160	PDHA1	HP:0003542	Increased serum pyruvate
5160	PDHA1	HP:0007020	Progressive spastic paraplegia
5160	PDHA1	HP:0011968	Feeding difficulties
5160	PDHA1	HP:0002350	Cerebellar cyst
5160	PDHA1	HP:0002329	Drowsiness
5160	PDHA1	HP:0009826	Limb undergrowth
5160	PDHA1	HP:0009830	Peripheral neuropathy
5160	PDHA1	HP:0004925	Chronic lactic acidosis
5160	PDHA1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
5160	PDHA1	HP:0004902	Congenital lactic acidosis
5160	PDHA1	HP:0004900	Severe lactic acidosis
5160	PDHA1	HP:0000639	Nystagmus
5160	PDHA1	HP:0000648	Optic atrophy
5160	PDHA1	HP:0000618	Blindness
5160	PDHA1	HP:0001942	Metabolic acidosis
5160	PDHA1	HP:0001941	Acidosis
5160	PDHA1	HP:0000602	Ophthalmoplegia
5160	PDHA1	HP:0001903	Anemia
5160	PDHA1	HP:0012698	Cerebellar gliosis
5160	PDHA1	HP:0001999	Abnormal facial shape
5160	PDHA1	HP:0006970	Periventricular leukomalacia
5160	PDHA1	HP:0006956	Lateral ventricle dilatation
5160	PDHA1	HP:0006999	Basal ganglia gliosis
5160	PDHA1	HP:0100022	Abnormality of movement
5160	PDHA1	HP:0000712	Emotional lability
5160	PDHA1	HP:0000707	Abnormality of the nervous system
5160	PDHA1	HP:0011471	Gastrostomy tube feeding in infancy
5160	PDHA1	HP:0003128	Lactic acidosis
5160	PDHA1	HP:0000998	Hypertrichosis
5160	PDHA1	HP:0000954	Single transverse palmar crease
5160	PDHA1	HP:0000252	Microcephaly
5160	PDHA1	HP:0002878	Respiratory failure
5160	PDHA1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
5160	PDHA1	HP:0001508	Failure to thrive
5160	PDHA1	HP:0001518	Small for gestational age
5160	PDHA1	HP:0001511	Intrauterine growth retardation
5160	PDHA1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
5160	PDHA1	HP:0000365	Hearing impairment
5160	PDHA1	HP:0000343	Long philtrum
5160	PDHA1	HP:0001629	Ventricular septal defect
5160	PDHA1	HP:0001639	Hypertrophic cardiomyopathy
5160	PDHA1	HP:0011196	EEG with focal sharp waves
5160	PDHA1	HP:0011193	EEG with focal spikes
5160	PDHA1	HP:0011199	EEG with generalized sharp slow waves
5160	PDHA1	HP:0000486	Strabismus
5160	PDHA1	HP:0012469	Infantile spasms
5160	PDHA1	HP:0000496	Abnormality of eye movement
5160	PDHA1	HP:0000463	Anteverted nares
5160	PDHA1	HP:0000454	Flared nostrils
5160	PDHA1	HP:0012443	Abnormality of brain morphology
5160	PDHA1	HP:0000431	Wide nasal bridge
5160	PDHA1	HP:0001761	Pes cavus
5160	PDHA1	HP:0006799	Basal ganglia cysts
5160	PDHA1	HP:0000508	Ptosis
5160	PDHA1	HP:0000580	Pigmentary retinopathy
5160	PDHA1	HP:0001883	Talipes
5161	PDHA2	HP:0000027	Azoospermia
5161	PDHA2	HP:0000007	Autosomal recessive inheritance
5161	PDHA2	HP:0011462	Young adult onset
5161	PDHA2	HP:0000798	Oligospermia
5161	PDHA2	HP:0003251	Male infertility
5161	PDHA2	HP:0012207	Reduced sperm motility
5162	PDHB	HP:0001290	Generalized hypotonia
5162	PDHB	HP:0001274	Agenesis of corpus callosum
5162	PDHB	HP:0001250	Seizure
5162	PDHB	HP:0001252	Hypotonia
5162	PDHB	HP:0001251	Ataxia
5162	PDHB	HP:0001265	Hyporeflexia
5162	PDHB	HP:0001263	Global developmental delay
5162	PDHB	HP:0002683	Abnormal calvaria morphology
5162	PDHB	HP:0000007	Autosomal recessive inheritance
5162	PDHB	HP:0001302	Pachygyria
5162	PDHB	HP:0001321	Cerebellar hypoplasia
5162	PDHB	HP:0001315	Reduced tendon reflexes
5162	PDHB	HP:0002079	Hypoplasia of the corpus callosum
5162	PDHB	HP:0002119	Ventriculomegaly
5162	PDHB	HP:0007016	Corticospinal tract hypoplasia
5162	PDHB	HP:0002365	Hypoplasia of the brainstem
5162	PDHB	HP:0200012	Short corpus callosum
5162	PDHB	HP:0007165	Periventricular heterotopia
5162	PDHB	HP:0007109	Periventricular cysts
5162	PDHB	HP:0001987	Hyperammonemia
5162	PDHB	HP:0001999	Abnormal facial shape
5162	PDHB	HP:0004325	Decreased body weight
5162	PDHB	HP:0006970	Periventricular leukomalacia
5162	PDHB	HP:0012758	Neurodevelopmental delay
5162	PDHB	HP:0003128	Lactic acidosis
5162	PDHB	HP:0007772	Impaired smooth pursuit
5162	PDHB	HP:0001511	Intrauterine growth retardation
5162	PDHB	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
5165	PDK3	HP:0007328	Impaired pain sensation
5165	PDK3	HP:0001270	Motor delay
5165	PDK3	HP:0007340	Lower limb muscle weakness
5165	PDK3	HP:0008954	Intrinsic hand muscle atrophy
5165	PDK3	HP:0008944	Distal lower limb amyotrophy
5165	PDK3	HP:0001423	X-linked dominant inheritance
5165	PDK3	HP:0003393	Thenar muscle atrophy
5165	PDK3	HP:0003376	Steppage gait
5165	PDK3	HP:0003482	EMG: axonal abnormality
5165	PDK3	HP:0003438	Absent Achilles reflex
5165	PDK3	HP:0002166	Impaired vibration sensation in the lower limbs
5165	PDK3	HP:0003596	Middle age onset
5165	PDK3	HP:0002378	Hand tremor
5165	PDK3	HP:0002355	Difficulty walking
5165	PDK3	HP:0003677	Slowly progressive
5165	PDK3	HP:0009830	Peripheral neuropathy
5165	PDK3	HP:0007141	Sensorimotor neuropathy
5165	PDK3	HP:0003621	Juvenile onset
5165	PDK3	HP:0009072	Decreased Achilles reflex
5165	PDK3	HP:0006886	Impaired distal vibration sensation
5165	PDK3	HP:0000762	Decreased nerve conduction velocity
5165	PDK3	HP:0011463	Childhood onset
5165	PDK3	HP:0003236	Elevated circulating creatine kinase concentration
5165	PDK3	HP:0002936	Distal sensory impairment
5165	PDK3	HP:0000407	Sensorineural hearing impairment
5165	PDK3	HP:0030237	Hand muscle weakness
5165	PDK3	HP:0001761	Pes cavus
5167	ENPP1	HP:0025116	Fetal distress
5167	ENPP1	HP:0025114	Hypergranulosis
5167	ENPP1	HP:0025169	Left ventricular systolic dysfunction
5167	ENPP1	HP:0001102	Angioid streaks of the fundus
5167	ENPP1	HP:0001297	Stroke
5167	ENPP1	HP:0001250	Seizure
5167	ENPP1	HP:0008732	Renal hypophosphatemia
5167	ENPP1	HP:0007392	Excessive wrinkled skin
5167	ENPP1	HP:0010982	Polygenic inheritance
5167	ENPP1	HP:0002514	Cerebral calcification
5167	ENPP1	HP:0003836	Stippled calcification of the shoulder
5167	ENPP1	HP:0031013	Ankylosis
5167	ENPP1	HP:0012052	Low serum calcitriol
5167	ENPP1	HP:0001384	Abnormal hip joint morphology
5167	ENPP1	HP:0001363	Craniosynostosis
5167	ENPP1	HP:0007530	Punctate palmoplantar hyperkeratosis
5167	ENPP1	HP:0001324	Muscle weakness
5167	ENPP1	HP:0002673	Coxa valga
5167	ENPP1	HP:0000007	Autosomal recessive inheritance
5167	ENPP1	HP:0000006	Autosomal dominant inheritance
5167	ENPP1	HP:0002652	Skeletal dysplasia
5167	ENPP1	HP:0002653	Bone pain
5167	ENPP1	HP:0002650	Scoliosis
5167	ENPP1	HP:0002647	Aortic dissection
5167	ENPP1	HP:0002643	Neonatal respiratory distress
5167	ENPP1	HP:0002617	Vascular dilatation
5167	ENPP1	HP:0003941	Stippled calcification of the elbow
5167	ENPP1	HP:0002621	Atherosclerosis
5167	ENPP1	HP:0025477	Periarticular calcification
5167	ENPP1	HP:0000164	Abnormality of the dentition
5167	ENPP1	HP:0001482	Subcutaneous nodule
5167	ENPP1	HP:0000121	Nephrocalcinosis
5167	ENPP1	HP:0000117	Renal phosphate wasting
5167	ENPP1	HP:0032553	Weak pulse
5167	ENPP1	HP:0002750	Delayed skeletal maturation
5167	ENPP1	HP:0002749	Osteomalacia
5167	ENPP1	HP:0002024	Malabsorption
5167	ENPP1	HP:0002013	Vomiting
5167	ENPP1	HP:0005978	Type II diabetes mellitus
5167	ENPP1	HP:0100529	Abnormal blood phosphate concentration
5167	ENPP1	HP:0100545	Arterial stenosis
5167	ENPP1	HP:0002098	Respiratory distress
5167	ENPP1	HP:0002092	Pulmonary arterial hypertension
5167	ENPP1	HP:0100559	Lower limb asymmetry
5167	ENPP1	HP:0100511	Abnormality of vitamin D metabolism
5167	ENPP1	HP:0100585	Telangiectasia of the skin
5167	ENPP1	HP:0003472	Hypocalcemic tetany
5167	ENPP1	HP:0003416	Spinal canal stenosis
5167	ENPP1	HP:0002172	Postural instability
5167	ENPP1	HP:0010512	Adrenal calcification
5167	ENPP1	HP:0003593	Infantile onset
5167	ENPP1	HP:0003577	Congenital onset
5167	ENPP1	HP:0002239	Gastrointestinal hemorrhage
5167	ENPP1	HP:0003584	Late onset
5167	ENPP1	HP:0100781	Abnormal sacroiliac joint morphology
5167	ENPP1	HP:0100758	Gangrene
5167	ENPP1	HP:0010639	Elevated alkaline phosphatase of bone origin
5167	ENPP1	HP:0011968	Feeding difficulties
5167	ENPP1	HP:0020073	Hypopigmented macule
5167	ENPP1	HP:0001065	Striae distensae
5167	ENPP1	HP:0001061	Acne
5167	ENPP1	HP:0001012	Multiple lipomas
5167	ENPP1	HP:0002326	Transient ischemic attack
5167	ENPP1	HP:0025092	Epidermal acanthosis
5167	ENPP1	HP:0100659	Abnormal cerebral vascular morphology
5167	ENPP1	HP:0100671	Abnormal trabecular bone morphology
5167	ENPP1	HP:0100679	Lack of skin elasticity
5167	ENPP1	HP:0200067	Recurrent spontaneous abortion
5167	ENPP1	HP:0010766	Ectopic calcification
5167	ENPP1	HP:0100686	Enthesitis
5167	ENPP1	HP:0004963	Calcification of the aorta
5167	ENPP1	HP:0003623	Neonatal onset
5167	ENPP1	HP:0004966	Medial calcification of large arteries
5167	ENPP1	HP:0004940	Generalized arterial calcification
5167	ENPP1	HP:0003621	Juvenile onset
5167	ENPP1	HP:0004912	Hypophosphatemic rickets
5167	ENPP1	HP:0031819	Increased waist to hip ratio
5167	ENPP1	HP:0000630	Abnormal retinal artery morphology
5167	ENPP1	HP:0001945	Fever
5167	ENPP1	HP:0001920	Renal artery stenosis
5167	ENPP1	HP:0011344	Severe global developmental delay
5167	ENPP1	HP:0000684	Delayed eruption of teeth
5167	ENPP1	HP:0000685	Hypoplasia of teeth
5167	ENPP1	HP:0000670	Carious teeth
5167	ENPP1	HP:0004322	Short stature
5167	ENPP1	HP:0004306	Abnormal endocardium morphology
5167	ENPP1	HP:0030680	Abnormality of cardiovascular system morphology
5167	ENPP1	HP:0003074	Hyperglycemia
5167	ENPP1	HP:0005692	Joint hyperflexibility
5167	ENPP1	HP:0004374	Hemiplegia/hemiparesis
5167	ENPP1	HP:0003020	Enlargement of the wrists
5167	ENPP1	HP:0000765	Abnormal thorax morphology
5167	ENPP1	HP:0100036	Pseudo-fractures
5167	ENPP1	HP:0000737	Irritability
5167	ENPP1	HP:0009164	Abnormal calcification of the carpal bones
5167	ENPP1	HP:0011463	Childhood onset
5167	ENPP1	HP:0003109	Hyperphosphaturia
5167	ENPP1	HP:0030757	Tooth abscess
5167	ENPP1	HP:0005764	Polyarticular arthritis
5167	ENPP1	HP:0003155	Elevated circulating alkaline phosphatase concentration
5167	ENPP1	HP:0000855	Insulin resistance
5167	ENPP1	HP:0011506	Choroidal neovascularization
5167	ENPP1	HP:0000822	Hypertension
5167	ENPP1	HP:0000821	Hypothyroidism
5167	ENPP1	HP:0004576	Sclerotic vertebral endplates
5167	ENPP1	HP:0003207	Arterial calcification
5167	ENPP1	HP:0000978	Bruising susceptibility
5167	ENPP1	HP:0000974	Hyperextensible skin
5167	ENPP1	HP:0000989	Pruritus
5167	ENPP1	HP:0000988	Skin rash
5167	ENPP1	HP:0000982	Palmoplantar keratoderma
5167	ENPP1	HP:0000951	Abnormality of the skin
5167	ENPP1	HP:0000969	Edema
5167	ENPP1	HP:0000961	Cyanosis
5167	ENPP1	HP:0000962	Hyperkeratosis
5167	ENPP1	HP:0040162	Orthokeratosis
5167	ENPP1	HP:0040197	Encephalomalacia
5167	ENPP1	HP:0001595	Abnormal hair morphology
5167	ENPP1	HP:0001597	Abnormality of the nail
5167	ENPP1	HP:0006463	Rickets of the lower limbs
5167	ENPP1	HP:0005103	Calcification of the auricular cartilage
5167	ENPP1	HP:0005096	Distal femoral bowing
5167	ENPP1	HP:0002814	Abnormality of the lower limb
5167	ENPP1	HP:0002815	Abnormality of the knee
5167	ENPP1	HP:0002812	Coxa vara
5167	ENPP1	HP:0002829	Arthralgia
5167	ENPP1	HP:0031313	Abdominal aortic calcification
5167	ENPP1	HP:0031314	Carotid artery calcification
5167	ENPP1	HP:0025520	Calcinosis cutis
5167	ENPP1	HP:0000218	High palate
5167	ENPP1	HP:0001561	Polyhydramnios
5167	ENPP1	HP:0001531	Failure to thrive in infancy
5167	ENPP1	HP:0002857	Genu valgum
5167	ENPP1	HP:0001541	Ascites
5167	ENPP1	HP:0001507	Growth abnormality
5167	ENPP1	HP:0001510	Growth delay
5167	ENPP1	HP:0001513	Obesity
5167	ENPP1	HP:0000381	Stapes ankylosis
5167	ENPP1	HP:0011036	Abnormality of renal excretion
5167	ENPP1	HP:0006559	Hepatic calcification
5167	ENPP1	HP:0005213	Pancreatic calcification
5167	ENPP1	HP:0002949	Fused cervical vertebrae
5167	ENPP1	HP:0000365	Hearing impairment
5167	ENPP1	HP:0012340	Decreased resting energy expenditure
5167	ENPP1	HP:0001698	Pericardial effusion
5167	ENPP1	HP:0011001	Increased bone mineral density
5167	ENPP1	HP:0001681	Angina pectoris
5167	ENPP1	HP:0002982	Tibial bowing
5167	ENPP1	HP:0001642	Pulmonic stenosis
5167	ENPP1	HP:0001645	Sudden cardiac death
5167	ENPP1	HP:0001644	Dilated cardiomyopathy
5167	ENPP1	HP:0001658	Myocardial infarction
5167	ENPP1	HP:0001640	Cardiomegaly
5167	ENPP1	HP:0002970	Genu varum
5167	ENPP1	HP:0001635	Congestive heart failure
5167	ENPP1	HP:0001634	Mitral valve prolapse
5167	ENPP1	HP:0006690	Myocardial calcification
5167	ENPP1	HP:0001723	Restrictive cardiomyopathy
5167	ENPP1	HP:0000407	Sensorineural hearing impairment
5167	ENPP1	HP:0000405	Conductive hearing impairment
5167	ENPP1	HP:0001717	Coronary artery calcification
5167	ENPP1	HP:0001714	Ventricular hypertrophy
5167	ENPP1	HP:0012457	Medial calcification of medium-sized arteries
5167	ENPP1	HP:0000488	Retinopathy
5167	ENPP1	HP:0001789	Hydrops fetalis
5167	ENPP1	HP:0000474	Thickened nuchal skin fold
5167	ENPP1	HP:0012408	Medullary nephrocalcinosis
5167	ENPP1	HP:0012409	Cortical nephrocalcinosis
5167	ENPP1	HP:0000410	Mixed hearing impairment
5167	ENPP1	HP:0012508	Metamorphopsia
5167	ENPP1	HP:0000505	Visual impairment
5167	ENPP1	HP:0000592	Blue sclerae
5167	ENPP1	HP:0000573	Retinal hemorrhage
5167	ENPP1	HP:0001872	Abnormality of thrombocytes
5167	ENPP1	HP:0000545	Myopia
5172	SLC26A4	HP:0008586	Hypoplasia of the cochlea
5172	SLC26A4	HP:0010864	Intellectual disability, severe
5172	SLC26A4	HP:0008554	Cochlear malformation
5172	SLC26A4	HP:0001252	Hypotonia
5172	SLC26A4	HP:0001251	Ataxia
5172	SLC26A4	HP:0001249	Intellectual disability
5172	SLC26A4	HP:0001263	Global developmental delay
5172	SLC26A4	HP:0001324	Muscle weakness
5172	SLC26A4	HP:0000007	Autosomal recessive inheritance
5172	SLC26A4	HP:0025484	Increased circulating thyroglobulin level
5172	SLC26A4	HP:0000158	Macroglossia
5172	SLC26A4	HP:0002777	Tracheal stenosis
5172	SLC26A4	HP:0000112	Nephropathy
5172	SLC26A4	HP:0002019	Constipation
5172	SLC26A4	HP:0005990	Thyroid hypoplasia
5172	SLC26A4	HP:0002093	Respiratory insufficiency
5172	SLC26A4	HP:0008191	Thyroid agenesis
5172	SLC26A4	HP:0002167	Abnormality of speech or vocalization
5172	SLC26A4	HP:0008223	Compensated hypothyroidism
5172	SLC26A4	HP:0003577	Congenital onset
5172	SLC26A4	HP:0100786	Hypersomnia
5172	SLC26A4	HP:0011968	Feeding difficulties
5172	SLC26A4	HP:0002321	Vertigo
5172	SLC26A4	HP:0008527	Congenital sensorineural hearing impairment
5172	SLC26A4	HP:0011387	Enlarged vestibular aqueduct
5172	SLC26A4	HP:0004322	Short stature
5172	SLC26A4	HP:0000853	Goiter
5172	SLC26A4	HP:0000843	Hyperparathyroidism
5172	SLC26A4	HP:0000821	Hypothyroidism
5172	SLC26A4	HP:0003270	Abdominal distention
5172	SLC26A4	HP:0000952	Jaundice
5172	SLC26A4	HP:0000280	Coarse facial features
5172	SLC26A4	HP:0000271	Abnormality of the face
5172	SLC26A4	HP:0000239	Large fontanelles
5172	SLC26A4	HP:0002890	Thyroid carcinoma
5172	SLC26A4	HP:0001510	Growth delay
5172	SLC26A4	HP:0012378	Fatigue
5172	SLC26A4	HP:0000359	Abnormality of the inner ear
5172	SLC26A4	HP:0000376	Incomplete partition of the cochlea type II
5172	SLC26A4	HP:0000407	Sensorineural hearing impairment
5172	SLC26A4	HP:0001751	Abnormal vestibular function
5173	PDYN	HP:0007305	CNS demyelination
5173	PDYN	HP:0001272	Cerebellar atrophy
5173	PDYN	HP:0001271	Polyneuropathy
5173	PDYN	HP:0001274	Agenesis of corpus callosum
5173	PDYN	HP:0001260	Dysarthria
5173	PDYN	HP:0002529	Neuronal loss in central nervous system
5173	PDYN	HP:0001347	Hyperreflexia
5173	PDYN	HP:0001337	Tremor
5173	PDYN	HP:0000006	Autosomal dominant inheritance
5173	PDYN	HP:0001310	Dysmetria
5173	PDYN	HP:0002066	Gait ataxia
5173	PDYN	HP:0002073	Progressive cerebellar ataxia
5173	PDYN	HP:0002070	Limb ataxia
5173	PDYN	HP:0003487	Babinski sign
5173	PDYN	HP:0002166	Impaired vibration sensation in the lower limbs
5173	PDYN	HP:0003596	Middle age onset
5173	PDYN	HP:0003584	Late onset
5173	PDYN	HP:0003677	Slowly progressive
5173	PDYN	HP:0010831	Impaired proprioception
5173	PDYN	HP:0007141	Sensorimotor neuropathy
5173	PDYN	HP:0006858	Impaired distal proprioception
5173	PDYN	HP:0006886	Impaired distal vibration sensation
5173	PDYN	HP:0000641	Dysmetric saccades
5173	PDYN	HP:0000514	Slow saccadic eye movements
5176	SERPINF1	HP:0001388	Joint laxity
5176	SERPINF1	HP:0002659	Increased susceptibility to fractures
5176	SERPINF1	HP:0000007	Autosomal recessive inheritance
5176	SERPINF1	HP:0000703	Dentinogenesis imperfecta
5176	SERPINF1	HP:0003179	Protrusio acetabuli
5176	SERPINF1	HP:0004568	Beaking of vertebral bodies
5176	SERPINF1	HP:0004586	Biconcave vertebral bodies
5176	SERPINF1	HP:0002812	Coxa vara
5176	SERPINF1	HP:0002953	Vertebral compression fracture
5184	PEPD	HP:0001166	Arachnodactyly
5184	PEPD	HP:0009937	Facial hirsutism
5184	PEPD	HP:0001249	Intellectual disability
5184	PEPD	HP:0001263	Global developmental delay
5184	PEPD	HP:0001231	Abnormal fingernail morphology
5184	PEPD	HP:0007489	Diffuse telangiectasia
5184	PEPD	HP:0007473	Crusting erythematous dermatitis
5184	PEPD	HP:0000007	Autosomal recessive inheritance
5184	PEPD	HP:0007598	Bilateral single transverse palmar creases
5184	PEPD	HP:0002719	Recurrent infections
5184	PEPD	HP:0002715	Abnormality of the immune system
5184	PEPD	HP:0002725	Systemic lupus erythematosus
5184	PEPD	HP:0033187	Hyperimidodipeptiduria
5184	PEPD	HP:0002099	Asthma
5184	PEPD	HP:0002162	Low posterior hairline
5184	PEPD	HP:0002240	Hepatomegaly
5184	PEPD	HP:0002230	Generalized hirsutism
5184	PEPD	HP:0002211	White forelock
5184	PEPD	HP:0002205	Recurrent respiratory infections
5184	PEPD	HP:0010702	Increased circulating antibody level
5184	PEPD	HP:0010669	Hypoplasia of the zygomatic bone
5184	PEPD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
5184	PEPD	HP:0001007	Hirsutism
5184	PEPD	HP:0200034	Papule
5184	PEPD	HP:0200042	Skin ulcer
5184	PEPD	HP:0010783	Erythema
5184	PEPD	HP:0001903	Anemia
5184	PEPD	HP:0011342	Mild global developmental delay
5184	PEPD	HP:0000670	Carious teeth
5184	PEPD	HP:0001999	Abnormal facial shape
5184	PEPD	HP:0031956	Elevated circulating aspartate aminotransferase concentration
5184	PEPD	HP:0004349	Reduced bone mineral density
5184	PEPD	HP:0012786	Recurrent cystitis
5184	PEPD	HP:0011463	Childhood onset
5184	PEPD	HP:0003196	Short nose
5184	PEPD	HP:0003272	Abnormal hip bone morphology
5184	PEPD	HP:0000992	Cutaneous photosensitivity
5184	PEPD	HP:0000989	Pruritus
5184	PEPD	HP:0000982	Palmoplantar keratoderma
5184	PEPD	HP:0000958	Dry skin
5184	PEPD	HP:0000964	Eczema
5184	PEPD	HP:0000967	Petechiae
5184	PEPD	HP:0000963	Thin skin
5184	PEPD	HP:0000962	Hyperkeratosis
5184	PEPD	HP:0008065	Aplasia/Hypoplasia of the skin
5184	PEPD	HP:0007703	Abnormality of retinal pigmentation
5184	PEPD	HP:0000294	Low anterior hairline
5184	PEPD	HP:0000218	High palate
5184	PEPD	HP:0002857	Genu valgum
5184	PEPD	HP:0001508	Failure to thrive
5184	PEPD	HP:0006579	Prolonged neonatal jaundice
5184	PEPD	HP:0006528	Chronic lung disease
5184	PEPD	HP:0006532	Recurrent pneumonia
5184	PEPD	HP:0000365	Hearing impairment
5184	PEPD	HP:0000370	Abnormality of the middle ear
5184	PEPD	HP:0000347	Micrognathia
5184	PEPD	HP:0000316	Hypertelorism
5184	PEPD	HP:0005280	Depressed nasal bridge
5184	PEPD	HP:0011120	Concave nasal ridge
5184	PEPD	HP:0000457	Depressed nasal ridge
5184	PEPD	HP:0001744	Splenomegaly
5184	PEPD	HP:0000520	Proptosis
5184	PEPD	HP:0000508	Ptosis
5184	PEPD	HP:0000505	Visual impairment
5184	PEPD	HP:0011220	Prominent forehead
5184	PEPD	HP:0001873	Thrombocytopenia
5188	GATB	HP:0000007	Autosomal recessive inheritance
5188	GATB	HP:0008163	Decreased circulating cortisol level
5188	GATB	HP:0001943	Hypoglycemia
5188	GATB	HP:0001903	Anemia
5188	GATB	HP:0003128	Lactic acidosis
5188	GATB	HP:0003236	Elevated circulating creatine kinase concentration
5188	GATB	HP:0001511	Intrauterine growth retardation
5188	GATB	HP:0000365	Hearing impairment
5188	GATB	HP:0001622	Premature birth
5188	GATB	HP:0001640	Cardiomegaly
5188	GATB	HP:0001790	Nonimmune hydrops fetalis
5189	PEX1	HP:0001176	Large hands
5189	PEX1	HP:0001133	Constriction of peripheral visual field
5189	PEX1	HP:0003777	Pili torti
5189	PEX1	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
5189	PEX1	HP:0008572	External ear malformation
5189	PEX1	HP:0009890	High anterior hairline
5189	PEX1	HP:0009891	Underdeveloped supraorbital ridges
5189	PEX1	HP:0010864	Intellectual disability, severe
5189	PEX1	HP:0002416	Subependymal cysts
5189	PEX1	HP:0002415	Leukodystrophy
5189	PEX1	HP:0001290	Generalized hypotonia
5189	PEX1	HP:0001284	Areflexia
5189	PEX1	HP:0001250	Seizure
5189	PEX1	HP:0001252	Hypotonia
5189	PEX1	HP:0001251	Ataxia
5189	PEX1	HP:0001249	Intellectual disability
5189	PEX1	HP:0001265	Hyporeflexia
5189	PEX1	HP:0001263	Global developmental delay
5189	PEX1	HP:0001257	Spasticity
5189	PEX1	HP:0001231	Abnormal fingernail morphology
5189	PEX1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
5189	PEX1	HP:0008665	Clitoral hypertrophy
5189	PEX1	HP:0002514	Cerebral calcification
5189	PEX1	HP:0002505	Loss of ambulation
5189	PEX1	HP:0003819	Death in childhood
5189	PEX1	HP:0001399	Hepatic failure
5189	PEX1	HP:0001392	Abnormality of the liver
5189	PEX1	HP:0001395	Hepatic fibrosis
5189	PEX1	HP:0001394	Cirrhosis
5189	PEX1	HP:0000047	Hypospadias
5189	PEX1	HP:0001347	Hyperreflexia
5189	PEX1	HP:0000028	Cryptorchidism
5189	PEX1	HP:0008872	Feeding difficulties in infancy
5189	PEX1	HP:0000007	Autosomal recessive inheritance
5189	PEX1	HP:0000003	Multicystic kidney dysplasia
5189	PEX1	HP:0002652	Skeletal dysplasia
5189	PEX1	HP:0001319	Neonatal hypotonia
5189	PEX1	HP:0001315	Reduced tendon reflexes
5189	PEX1	HP:0002643	Neonatal respiratory distress
5189	PEX1	HP:0000164	Abnormality of the dentition
5189	PEX1	HP:0000158	Macroglossia
5189	PEX1	HP:0000157	Abnormality of the tongue
5189	PEX1	HP:0000174	Abnormal palate morphology
5189	PEX1	HP:0000135	Hypogonadism
5189	PEX1	HP:0002705	High, narrow palate
5189	PEX1	HP:0006297	Enamel hypoplasia
5189	PEX1	HP:0007598	Bilateral single transverse palmar creases
5189	PEX1	HP:0000126	Hydronephrosis
5189	PEX1	HP:0000107	Renal cyst
5189	PEX1	HP:0001401	Intrahepatic biliary dysgenesis
5189	PEX1	HP:0002750	Delayed skeletal maturation
5189	PEX1	HP:0003355	Aminoaciduria
5189	PEX1	HP:0002024	Malabsorption
5189	PEX1	HP:0002021	Pyloric stenosis
5189	PEX1	HP:0005989	Redundant neck skin
5189	PEX1	HP:0002015	Dysphagia
5189	PEX1	HP:0003323	Progressive muscle weakness
5189	PEX1	HP:0011800	Midface retrusion
5189	PEX1	HP:0002089	Pulmonary hypoplasia
5189	PEX1	HP:0100543	Cognitive impairment
5189	PEX1	HP:0002093	Respiratory insufficiency
5189	PEX1	HP:0005930	Abnormal epiphysis morphology
5189	PEX1	HP:0008167	Very long chain fatty acid accumulation
5189	PEX1	HP:0009487	Ulnar deviation of the hand
5189	PEX1	HP:0003455	Elevated circulating long chain fatty acid concentration
5189	PEX1	HP:0002120	Cerebral cortical atrophy
5189	PEX1	HP:0002126	Polymicrogyria
5189	PEX1	HP:0004734	Renal cortical microcysts
5189	PEX1	HP:0100490	Camptodactyly of finger
5189	PEX1	HP:0010571	Elevated circulating phytanic acid concentration
5189	PEX1	HP:0010547	Muscle flaccidity
5189	PEX1	HP:0008207	Primary adrenal insufficiency
5189	PEX1	HP:0003593	Infantile onset
5189	PEX1	HP:0002269	Abnormality of neuronal migration
5189	PEX1	HP:0002240	Hepatomegaly
5189	PEX1	HP:0002282	Gray matter heterotopia
5189	PEX1	HP:0010655	Epiphyseal stippling
5189	PEX1	HP:0011968	Feeding difficulties
5189	PEX1	HP:0010628	Facial palsy
5189	PEX1	HP:0008388	Abnormal toenail morphology
5189	PEX1	HP:0002359	Frequent falls
5189	PEX1	HP:0002376	Developmental regression
5189	PEX1	HP:0002353	EEG abnormality
5189	PEX1	HP:0002317	Unsteady gait
5189	PEX1	HP:0100643	Abnormality of nail color
5189	PEX1	HP:0009830	Peripheral neuropathy
5189	PEX1	HP:0010808	Protruding tongue
5189	PEX1	HP:0001088	Brushfield spots
5189	PEX1	HP:0003623	Neonatal onset
5189	PEX1	HP:0006829	Severe muscular hypotonia
5189	PEX1	HP:0006894	Hypoplastic olfactory lobes
5189	PEX1	HP:0006887	Intellectual disability, progressive
5189	PEX1	HP:0000639	Nystagmus
5189	PEX1	HP:0000648	Optic atrophy
5189	PEX1	HP:0000614	Abnormal nasolacrimal system morphology
5189	PEX1	HP:0000627	Posterior embryotoxon
5189	PEX1	HP:0001928	Abnormality of coagulation
5189	PEX1	HP:0001939	Abnormality of metabolism/homeostasis
5189	PEX1	HP:0011362	Abnormal hair quantity
5189	PEX1	HP:0011344	Severe global developmental delay
5189	PEX1	HP:0000682	Abnormal dental enamel morphology
5189	PEX1	HP:0000679	Taurodontia
5189	PEX1	HP:0000662	Nyctalopia
5189	PEX1	HP:0004322	Short stature
5189	PEX1	HP:0012736	Profound global developmental delay
5189	PEX1	HP:0100022	Abnormality of movement
5189	PEX1	HP:0000763	Sensory neuropathy
5189	PEX1	HP:0000750	Delayed speech and language development
5189	PEX1	HP:0000708	Atypical behavior
5189	PEX1	HP:0000705	Amelogenesis imperfecta
5189	PEX1	HP:0000786	Primary amenorrhea
5189	PEX1	HP:0003159	Hyperoxaluria
5189	PEX1	HP:0004492	Widely patent fontanelles and sutures
5189	PEX1	HP:0000835	Adrenal hypoplasia
5189	PEX1	HP:0000819	Diabetes mellitus
5189	PEX1	HP:0003241	External genital hypoplasia
5189	PEX1	HP:0045074	Thin eyebrow
5189	PEX1	HP:0000954	Single transverse palmar crease
5189	PEX1	HP:0000956	Acanthosis nigricans
5189	PEX1	HP:0000952	Jaundice
5189	PEX1	HP:0008064	Ichthyosis
5189	PEX1	HP:0011675	Arrhythmia
5189	PEX1	HP:0007703	Abnormality of retinal pigmentation
5189	PEX1	HP:0000286	Epicanthus
5189	PEX1	HP:0001591	Bell-shaped thorax
5189	PEX1	HP:0000260	Wide anterior fontanel
5189	PEX1	HP:0000256	Macrocephaly
5189	PEX1	HP:0000271	Abnormality of the face
5189	PEX1	HP:0000272	Malar flattening
5189	PEX1	HP:0000268	Dolichocephaly
5189	PEX1	HP:0007759	Opacification of the corneal stroma
5189	PEX1	HP:0007754	Macular dystrophy
5189	PEX1	HP:0000244	Brachyturricephaly
5189	PEX1	HP:0000252	Microcephaly
5189	PEX1	HP:0000218	High palate
5189	PEX1	HP:0001522	Death in infancy
5189	PEX1	HP:0001508	Failure to thrive
5189	PEX1	HP:0011039	Abnormal helix morphology
5189	PEX1	HP:0012368	Flat face
5189	PEX1	HP:0006579	Prolonged neonatal jaundice
5189	PEX1	HP:0000365	Hearing impairment
5189	PEX1	HP:0000358	Posteriorly rotated ears
5189	PEX1	HP:0000369	Low-set ears
5189	PEX1	HP:0000368	Low-set, posteriorly rotated ears
5189	PEX1	HP:0000348	High forehead
5189	PEX1	HP:0000347	Micrognathia
5189	PEX1	HP:0000316	Hypertelorism
5189	PEX1	HP:0001643	Patent ductus arteriosus
5189	PEX1	HP:0000311	Round face
5189	PEX1	HP:0001629	Ventricular septal defect
5189	PEX1	HP:0001623	Breech presentation
5189	PEX1	HP:0001622	Premature birth
5189	PEX1	HP:0001638	Cardiomyopathy
5189	PEX1	HP:0002967	Cubitus valgus
5189	PEX1	HP:0007957	Corneal opacity
5189	PEX1	HP:0000407	Sensorineural hearing impairment
5189	PEX1	HP:0005280	Depressed nasal bridge
5189	PEX1	HP:0000486	Strabismus
5189	PEX1	HP:0000492	Abnormal eyelid morphology
5189	PEX1	HP:0000463	Anteverted nares
5189	PEX1	HP:0000474	Thickened nuchal skin fold
5189	PEX1	HP:0000444	Convex nasal ridge
5189	PEX1	HP:0001762	Talipes equinovarus
5189	PEX1	HP:0000431	Wide nasal bridge
5189	PEX1	HP:0005469	Flat occiput
5189	PEX1	HP:0000518	Cataract
5189	PEX1	HP:0000510	Rod-cone dystrophy
5189	PEX1	HP:0001840	Metatarsus adductus
5189	PEX1	HP:0000512	Abnormal electroretinogram
5189	PEX1	HP:0001820	Leukonychia
5189	PEX1	HP:0001838	Rocker bottom foot
5189	PEX1	HP:0000508	Ptosis
5189	PEX1	HP:0000505	Visual impairment
5189	PEX1	HP:0000501	Glaucoma
5189	PEX1	HP:0012592	Albuminuria
5189	PEX1	HP:0000582	Upslanted palpebral fissure
5189	PEX1	HP:0000580	Pigmentary retinopathy
5189	PEX1	HP:0000532	Abnormal chorioretinal morphology
5189	PEX1	HP:0000534	Abnormal eyebrow morphology
5189	PEX1	HP:0000543	Optic disc pallor
5190	PEX6	HP:0001176	Large hands
5190	PEX6	HP:0001133	Constriction of peripheral visual field
5190	PEX6	HP:0002464	Spastic dysarthria
5190	PEX6	HP:0003777	Pili torti
5190	PEX6	HP:0007263	Spinocerebellar atrophy
5190	PEX6	HP:0008572	External ear malformation
5190	PEX6	HP:0009890	High anterior hairline
5190	PEX6	HP:0009891	Underdeveloped supraorbital ridges
5190	PEX6	HP:0001290	Generalized hypotonia
5190	PEX6	HP:0001288	Gait disturbance
5190	PEX6	HP:0001250	Seizure
5190	PEX6	HP:0001252	Hypotonia
5190	PEX6	HP:0001251	Ataxia
5190	PEX6	HP:0001249	Intellectual disability
5190	PEX6	HP:0001265	Hyporeflexia
5190	PEX6	HP:0001263	Global developmental delay
5190	PEX6	HP:0001257	Spasticity
5190	PEX6	HP:0001231	Abnormal fingernail morphology
5190	PEX6	HP:0008665	Clitoral hypertrophy
5190	PEX6	HP:0002514	Cerebral calcification
5190	PEX6	HP:0033643	Increased circulating very long-chain fatty acid concentration
5190	PEX6	HP:0001399	Hepatic failure
5190	PEX6	HP:0001392	Abnormality of the liver
5190	PEX6	HP:0000070	Ureterocele
5190	PEX6	HP:0000047	Hypospadias
5190	PEX6	HP:0001347	Hyperreflexia
5190	PEX6	HP:0000028	Cryptorchidism
5190	PEX6	HP:0008872	Feeding difficulties in infancy
5190	PEX6	HP:0000007	Autosomal recessive inheritance
5190	PEX6	HP:0000003	Multicystic kidney dysplasia
5190	PEX6	HP:0000006	Autosomal dominant inheritance
5190	PEX6	HP:0002652	Skeletal dysplasia
5190	PEX6	HP:0001319	Neonatal hypotonia
5190	PEX6	HP:0001315	Reduced tendon reflexes
5190	PEX6	HP:0000164	Abnormality of the dentition
5190	PEX6	HP:0000157	Abnormality of the tongue
5190	PEX6	HP:0000174	Abnormal palate morphology
5190	PEX6	HP:0000135	Hypogonadism
5190	PEX6	HP:0008935	Generalized neonatal hypotonia
5190	PEX6	HP:0007598	Bilateral single transverse palmar creases
5190	PEX6	HP:0006254	Elevated circulating alpha-fetoprotein concentration
5190	PEX6	HP:0000126	Hydronephrosis
5190	PEX6	HP:0000107	Renal cyst
5190	PEX6	HP:0001410	Decreased liver function
5190	PEX6	HP:0002750	Delayed skeletal maturation
5190	PEX6	HP:0002024	Malabsorption
5190	PEX6	HP:0002021	Pyloric stenosis
5190	PEX6	HP:0003323	Progressive muscle weakness
5190	PEX6	HP:0100543	Cognitive impairment
5190	PEX6	HP:0002093	Respiratory insufficiency
5190	PEX6	HP:0002066	Gait ataxia
5190	PEX6	HP:0002073	Progressive cerebellar ataxia
5190	PEX6	HP:0005930	Abnormal epiphysis morphology
5190	PEX6	HP:0008180	Mildly elevated creatine kinase
5190	PEX6	HP:0008167	Very long chain fatty acid accumulation
5190	PEX6	HP:0002126	Polymicrogyria
5190	PEX6	HP:0002166	Impaired vibration sensation in the lower limbs
5190	PEX6	HP:0100490	Camptodactyly of finger
5190	PEX6	HP:0010571	Elevated circulating phytanic acid concentration
5190	PEX6	HP:0034553	Absence of peroxisomes
5190	PEX6	HP:0010547	Muscle flaccidity
5190	PEX6	HP:0008207	Primary adrenal insufficiency
5190	PEX6	HP:0002269	Abnormality of neuronal migration
5190	PEX6	HP:0002240	Hepatomegaly
5190	PEX6	HP:0010655	Epiphyseal stippling
5190	PEX6	HP:0010628	Facial palsy
5190	PEX6	HP:0008388	Abnormal toenail morphology
5190	PEX6	HP:0002376	Developmental regression
5190	PEX6	HP:0002355	Difficulty walking
5190	PEX6	HP:0002353	EEG abnormality
5190	PEX6	HP:0002346	Head tremor
5190	PEX6	HP:0100643	Abnormality of nail color
5190	PEX6	HP:0009830	Peripheral neuropathy
5190	PEX6	HP:0001088	Brushfield spots
5190	PEX6	HP:0007141	Sensorimotor neuropathy
5190	PEX6	HP:0007126	Proximal amyotrophy
5190	PEX6	HP:0003623	Neonatal onset
5190	PEX6	HP:0006829	Severe muscular hypotonia
5190	PEX6	HP:0000639	Nystagmus
5190	PEX6	HP:0000648	Optic atrophy
5190	PEX6	HP:0000618	Blindness
5190	PEX6	HP:0000614	Abnormal nasolacrimal system morphology
5190	PEX6	HP:0000627	Posterior embryotoxon
5190	PEX6	HP:0001954	Recurrent fever
5190	PEX6	HP:0001928	Abnormality of coagulation
5190	PEX6	HP:0001939	Abnormality of metabolism/homeostasis
5190	PEX6	HP:0011362	Abnormal hair quantity
5190	PEX6	HP:0011344	Severe global developmental delay
5190	PEX6	HP:0000682	Abnormal dental enamel morphology
5190	PEX6	HP:0000679	Taurodontia
5190	PEX6	HP:0000678	Dental crowding
5190	PEX6	HP:0000662	Nyctalopia
5190	PEX6	HP:0000657	Oculomotor apraxia
5190	PEX6	HP:0004322	Short stature
5190	PEX6	HP:0012736	Profound global developmental delay
5190	PEX6	HP:0100022	Abnormality of movement
5190	PEX6	HP:0000763	Sensory neuropathy
5190	PEX6	HP:0000762	Decreased nerve conduction velocity
5190	PEX6	HP:0000708	Atypical behavior
5190	PEX6	HP:0000705	Amelogenesis imperfecta
5190	PEX6	HP:0000786	Primary amenorrhea
5190	PEX6	HP:0003196	Short nose
5190	PEX6	HP:0000846	Adrenal insufficiency
5190	PEX6	HP:0000819	Diabetes mellitus
5190	PEX6	HP:0003241	External genital hypoplasia
5190	PEX6	HP:0045074	Thin eyebrow
5190	PEX6	HP:0000954	Single transverse palmar crease
5190	PEX6	HP:0000956	Acanthosis nigricans
5190	PEX6	HP:0000952	Jaundice
5190	PEX6	HP:0008064	Ichthyosis
5190	PEX6	HP:0011675	Arrhythmia
5190	PEX6	HP:0007703	Abnormality of retinal pigmentation
5190	PEX6	HP:0000286	Epicanthus
5190	PEX6	HP:0000260	Wide anterior fontanel
5190	PEX6	HP:0000256	Macrocephaly
5190	PEX6	HP:0000271	Abnormality of the face
5190	PEX6	HP:0000268	Dolichocephaly
5190	PEX6	HP:0005102	Cochlear degeneration
5190	PEX6	HP:0000252	Microcephaly
5190	PEX6	HP:0002878	Respiratory failure
5190	PEX6	HP:0000218	High palate
5190	PEX6	HP:0001522	Death in infancy
5190	PEX6	HP:0001508	Failure to thrive
5190	PEX6	HP:0012368	Flat face
5190	PEX6	HP:0000365	Hearing impairment
5190	PEX6	HP:0000368	Low-set, posteriorly rotated ears
5190	PEX6	HP:0000348	High forehead
5190	PEX6	HP:0000347	Micrognathia
5190	PEX6	HP:0000316	Hypertelorism
5190	PEX6	HP:0000311	Round face
5190	PEX6	HP:0001629	Ventricular septal defect
5190	PEX6	HP:0001622	Premature birth
5190	PEX6	HP:0001638	Cardiomyopathy
5190	PEX6	HP:0007957	Corneal opacity
5190	PEX6	HP:0000407	Sensorineural hearing impairment
5190	PEX6	HP:0005280	Depressed nasal bridge
5190	PEX6	HP:0000486	Strabismus
5190	PEX6	HP:0000492	Abnormal eyelid morphology
5190	PEX6	HP:0000463	Anteverted nares
5190	PEX6	HP:0000474	Thickened nuchal skin fold
5190	PEX6	HP:0001763	Pes planus
5190	PEX6	HP:0000431	Wide nasal bridge
5190	PEX6	HP:0005469	Flat occiput
5190	PEX6	HP:0000518	Cataract
5190	PEX6	HP:0000510	Rod-cone dystrophy
5190	PEX6	HP:0000524	Conjunctival telangiectasia
5190	PEX6	HP:0041093	Beau's lines
5190	PEX6	HP:0001820	Leukonychia
5190	PEX6	HP:0000508	Ptosis
5190	PEX6	HP:0000505	Visual impairment
5190	PEX6	HP:0000501	Glaucoma
5190	PEX6	HP:0000582	Upslanted palpebral fissure
5190	PEX6	HP:0000556	Retinal dystrophy
5190	PEX6	HP:0000537	Epicanthus inversus
5190	PEX6	HP:0000532	Abnormal chorioretinal morphology
5190	PEX6	HP:0000534	Abnormal eyebrow morphology
5191	PEX7	HP:0007256	Abnormal pyramidal sign
5191	PEX7	HP:0010864	Intellectual disability, severe
5191	PEX7	HP:0001271	Polyneuropathy
5191	PEX7	HP:0001250	Seizure
5191	PEX7	HP:0001252	Hypotonia
5191	PEX7	HP:0001251	Ataxia
5191	PEX7	HP:0001249	Intellectual disability
5191	PEX7	HP:0001265	Hyporeflexia
5191	PEX7	HP:0001257	Spasticity
5191	PEX7	HP:0000083	Renal insufficiency
5191	PEX7	HP:0001371	Flexion contracture
5191	PEX7	HP:0001324	Muscle weakness
5191	PEX7	HP:0002654	Multiple epiphyseal dysplasia
5191	PEX7	HP:0000007	Autosomal recessive inheritance
5191	PEX7	HP:0002652	Skeletal dysplasia
5191	PEX7	HP:0008905	Rhizomelia
5191	PEX7	HP:0000175	Cleft palate
5191	PEX7	HP:0002751	Kyphoscoliosis
5191	PEX7	HP:0004689	Short fourth metatarsal
5191	PEX7	HP:0002007	Frontal bossing
5191	PEX7	HP:0002093	Respiratory insufficiency
5191	PEX7	HP:0005930	Abnormal epiphysis morphology
5191	PEX7	HP:0003474	Somatic sensory dysfunction
5191	PEX7	HP:0002120	Cerebral cortical atrophy
5191	PEX7	HP:0003417	Coronal cleft vertebrae
5191	PEX7	HP:0002188	Delayed CNS myelination
5191	PEX7	HP:0002164	Nail dysplasia
5191	PEX7	HP:0010571	Elevated circulating phytanic acid concentration
5191	PEX7	HP:0010655	Epiphyseal stippling
5191	PEX7	HP:0003510	Severe short stature
5191	PEX7	HP:0003690	Limb muscle weakness
5191	PEX7	HP:0002376	Developmental regression
5191	PEX7	HP:0009830	Peripheral neuropathy
5191	PEX7	HP:0007141	Sensorimotor neuropathy
5191	PEX7	HP:0000639	Nystagmus
5191	PEX7	HP:0000616	Miosis
5191	PEX7	HP:0001939	Abnormality of metabolism/homeostasis
5191	PEX7	HP:0010049	Short metacarpal
5191	PEX7	HP:0000662	Nyctalopia
5191	PEX7	HP:0004374	Hemiplegia/hemiparesis
5191	PEX7	HP:0003015	Flared metaphysis
5191	PEX7	HP:0012722	Heart block
5191	PEX7	HP:0003202	Skeletal muscle atrophy
5191	PEX7	HP:0005841	Calcific stippling of infantile cartilaginous skeleton
5191	PEX7	HP:4000163	Decreased phytanoyl-CoA hydroxylase activity
5191	PEX7	HP:0000958	Dry skin
5191	PEX7	HP:0008064	Ichthyosis
5191	PEX7	HP:0011675	Arrhythmia
5191	PEX7	HP:0007703	Abnormality of retinal pigmentation
5191	PEX7	HP:0001596	Alopecia
5191	PEX7	HP:0000272	Malar flattening
5191	PEX7	HP:0000252	Microcephaly
5191	PEX7	HP:0012211	Abnormal renal physiology
5191	PEX7	HP:0001525	Severe failure to thrive
5191	PEX7	HP:0012368	Flat face
5191	PEX7	HP:0002922	Increased CSF protein concentration
5191	PEX7	HP:0000347	Micrognathia
5191	PEX7	HP:0001640	Cardiomegaly
5191	PEX7	HP:0001635	Congestive heart failure
5191	PEX7	HP:0001638	Cardiomyopathy
5191	PEX7	HP:0000407	Sensorineural hearing impairment
5191	PEX7	HP:0005280	Depressed nasal bridge
5191	PEX7	HP:0000478	Abnormality of the eye
5191	PEX7	HP:0000496	Abnormality of eye movement
5191	PEX7	HP:0000488	Retinopathy
5191	PEX7	HP:0000458	Anosmia
5191	PEX7	HP:0001765	Hammertoe
5191	PEX7	HP:0001744	Splenomegaly
5191	PEX7	HP:0001760	Abnormal foot morphology
5191	PEX7	HP:0001761	Pes cavus
5191	PEX7	HP:0000518	Cataract
5191	PEX7	HP:0000519	Developmental cataract
5191	PEX7	HP:0000510	Rod-cone dystrophy
5191	PEX7	HP:0000529	Progressive visual loss
5191	PEX7	HP:0000508	Ptosis
5191	PEX7	HP:0000505	Visual impairment
5191	PEX7	HP:0000504	Abnormality of vision
5191	PEX7	HP:0000582	Upslanted palpebral fissure
5191	PEX7	HP:0000568	Microphthalmia
5191	PEX7	HP:0000546	Retinal degeneration
5192	PEX10	HP:0002495	Impaired vibratory sensation
5192	PEX10	HP:0001133	Constriction of peripheral visual field
5192	PEX10	HP:0002457	Abnormal head movements
5192	PEX10	HP:0010965	Abnormal circulating phytanic acid concentration
5192	PEX10	HP:0007256	Abnormal pyramidal sign
5192	PEX10	HP:0007240	Progressive gait ataxia
5192	PEX10	HP:0008572	External ear malformation
5192	PEX10	HP:0009891	Underdeveloped supraorbital ridges
5192	PEX10	HP:0002415	Leukodystrophy
5192	PEX10	HP:0001272	Cerebellar atrophy
5192	PEX10	HP:0001284	Areflexia
5192	PEX10	HP:0001256	Intellectual disability, mild
5192	PEX10	HP:0001250	Seizure
5192	PEX10	HP:0001252	Hypotonia
5192	PEX10	HP:0001251	Ataxia
5192	PEX10	HP:0001265	Hyporeflexia
5192	PEX10	HP:0001260	Dysarthria
5192	PEX10	HP:0001263	Global developmental delay
5192	PEX10	HP:0001257	Spasticity
5192	PEX10	HP:0008665	Clitoral hypertrophy
5192	PEX10	HP:0002500	Abnormal cerebral white matter morphology
5192	PEX10	HP:0003811	Neonatal death
5192	PEX10	HP:0001399	Hepatic failure
5192	PEX10	HP:0001392	Abnormality of the liver
5192	PEX10	HP:0000047	Hypospadias
5192	PEX10	HP:0001347	Hyperreflexia
5192	PEX10	HP:0000028	Cryptorchidism
5192	PEX10	HP:0008872	Feeding difficulties in infancy
5192	PEX10	HP:0000007	Autosomal recessive inheritance
5192	PEX10	HP:0000003	Multicystic kidney dysplasia
5192	PEX10	HP:0001302	Pachygyria
5192	PEX10	HP:0002652	Skeletal dysplasia
5192	PEX10	HP:0001319	Neonatal hypotonia
5192	PEX10	HP:0001315	Reduced tendon reflexes
5192	PEX10	HP:0000157	Abnormality of the tongue
5192	PEX10	HP:0000174	Abnormal palate morphology
5192	PEX10	HP:0008935	Generalized neonatal hypotonia
5192	PEX10	HP:0007598	Bilateral single transverse palmar creases
5192	PEX10	HP:0000126	Hydronephrosis
5192	PEX10	HP:0000107	Renal cyst
5192	PEX10	HP:0001410	Decreased liver function
5192	PEX10	HP:0002024	Malabsorption
5192	PEX10	HP:0002021	Pyloric stenosis
5192	PEX10	HP:0003323	Progressive muscle weakness
5192	PEX10	HP:0005978	Type II diabetes mellitus
5192	PEX10	HP:0002080	Intention tremor
5192	PEX10	HP:0100543	Cognitive impairment
5192	PEX10	HP:0002093	Respiratory insufficiency
5192	PEX10	HP:0002066	Gait ataxia
5192	PEX10	HP:0002078	Truncal ataxia
5192	PEX10	HP:0002073	Progressive cerebellar ataxia
5192	PEX10	HP:0002070	Limb ataxia
5192	PEX10	HP:0005930	Abnormal epiphysis morphology
5192	PEX10	HP:0008167	Very long chain fatty acid accumulation
5192	PEX10	HP:0002126	Polymicrogyria
5192	PEX10	HP:0003438	Absent Achilles reflex
5192	PEX10	HP:0010571	Elevated circulating phytanic acid concentration
5192	PEX10	HP:0008207	Primary adrenal insufficiency
5192	PEX10	HP:0002269	Abnormality of neuronal migration
5192	PEX10	HP:0003577	Congenital onset
5192	PEX10	HP:0002240	Hepatomegaly
5192	PEX10	HP:0010655	Epiphyseal stippling
5192	PEX10	HP:0007002	Motor axonal neuropathy
5192	PEX10	HP:0010628	Facial palsy
5192	PEX10	HP:0003693	Distal amyotrophy
5192	PEX10	HP:0002376	Developmental regression
5192	PEX10	HP:0002353	EEG abnormality
5192	PEX10	HP:0003677	Slowly progressive
5192	PEX10	HP:0003678	Rapidly progressive
5192	PEX10	HP:0002317	Unsteady gait
5192	PEX10	HP:0001088	Brushfield spots
5192	PEX10	HP:0003621	Juvenile onset
5192	PEX10	HP:0006829	Severe muscular hypotonia
5192	PEX10	HP:0006886	Impaired distal vibration sensation
5192	PEX10	HP:0000639	Nystagmus
5192	PEX10	HP:0000648	Optic atrophy
5192	PEX10	HP:0000641	Dysmetric saccades
5192	PEX10	HP:0000627	Posterior embryotoxon
5192	PEX10	HP:0001928	Abnormality of coagulation
5192	PEX10	HP:0001939	Abnormality of metabolism/homeostasis
5192	PEX10	HP:0011344	Severe global developmental delay
5192	PEX10	HP:0000662	Nyctalopia
5192	PEX10	HP:0000657	Oculomotor apraxia
5192	PEX10	HP:0004322	Short stature
5192	PEX10	HP:0012736	Profound global developmental delay
5192	PEX10	HP:0100022	Abnormality of movement
5192	PEX10	HP:0000708	Atypical behavior
5192	PEX10	HP:0011499	Mydriasis
5192	PEX10	HP:0011463	Childhood onset
5192	PEX10	HP:0100275	Diffuse cerebellar atrophy
5192	PEX10	HP:0000952	Jaundice
5192	PEX10	HP:0008064	Ichthyosis
5192	PEX10	HP:0011675	Arrhythmia
5192	PEX10	HP:0007703	Abnormality of retinal pigmentation
5192	PEX10	HP:0000286	Epicanthus
5192	PEX10	HP:0000260	Wide anterior fontanel
5192	PEX10	HP:0000256	Macrocephaly
5192	PEX10	HP:0000271	Abnormality of the face
5192	PEX10	HP:0000268	Dolichocephaly
5192	PEX10	HP:0007772	Impaired smooth pursuit
5192	PEX10	HP:0000252	Microcephaly
5192	PEX10	HP:0000218	High palate
5192	PEX10	HP:0001522	Death in infancy
5192	PEX10	HP:0001508	Failure to thrive
5192	PEX10	HP:0030048	Colpocephaly
5192	PEX10	HP:0012368	Flat face
5192	PEX10	HP:0006579	Prolonged neonatal jaundice
5192	PEX10	HP:0002936	Distal sensory impairment
5192	PEX10	HP:0000365	Hearing impairment
5192	PEX10	HP:0000369	Low-set ears
5192	PEX10	HP:0000368	Low-set, posteriorly rotated ears
5192	PEX10	HP:0000348	High forehead
5192	PEX10	HP:0000347	Micrognathia
5192	PEX10	HP:0001629	Ventricular septal defect
5192	PEX10	HP:0001622	Premature birth
5192	PEX10	HP:0001638	Cardiomyopathy
5192	PEX10	HP:0007957	Corneal opacity
5192	PEX10	HP:0000407	Sensorineural hearing impairment
5192	PEX10	HP:0005280	Depressed nasal bridge
5192	PEX10	HP:0000486	Strabismus
5192	PEX10	HP:0000463	Anteverted nares
5192	PEX10	HP:0000474	Thickened nuchal skin fold
5192	PEX10	HP:0000431	Wide nasal bridge
5192	PEX10	HP:0001761	Pes cavus
5192	PEX10	HP:0005469	Flat occiput
5192	PEX10	HP:0000518	Cataract
5192	PEX10	HP:0000510	Rod-cone dystrophy
5192	PEX10	HP:0000508	Ptosis
5192	PEX10	HP:0000505	Visual impairment
5192	PEX10	HP:0000501	Glaucoma
5192	PEX10	HP:0000582	Upslanted palpebral fissure
5192	PEX10	HP:0012569	Delayed menarche
5192	PEX10	HP:0000556	Retinal dystrophy
5192	PEX10	HP:0000532	Abnormal chorioretinal morphology
5193	PEX12	HP:0001133	Constriction of peripheral visual field
5193	PEX12	HP:0008572	External ear malformation
5193	PEX12	HP:0009891	Underdeveloped supraorbital ridges
5193	PEX12	HP:0001290	Generalized hypotonia
5193	PEX12	HP:0001271	Polyneuropathy
5193	PEX12	HP:0001284	Areflexia
5193	PEX12	HP:0001250	Seizure
5193	PEX12	HP:0001252	Hypotonia
5193	PEX12	HP:0001251	Ataxia
5193	PEX12	HP:0001249	Intellectual disability
5193	PEX12	HP:0001265	Hyporeflexia
5193	PEX12	HP:0001260	Dysarthria
5193	PEX12	HP:0001263	Global developmental delay
5193	PEX12	HP:0001257	Spasticity
5193	PEX12	HP:0002570	Steatorrhea
5193	PEX12	HP:0008665	Clitoral hypertrophy
5193	PEX12	HP:0001399	Hepatic failure
5193	PEX12	HP:0001392	Abnormality of the liver
5193	PEX12	HP:0000047	Hypospadias
5193	PEX12	HP:0001347	Hyperreflexia
5193	PEX12	HP:0000028	Cryptorchidism
5193	PEX12	HP:0008872	Feeding difficulties in infancy
5193	PEX12	HP:0000007	Autosomal recessive inheritance
5193	PEX12	HP:0000003	Multicystic kidney dysplasia
5193	PEX12	HP:0002652	Skeletal dysplasia
5193	PEX12	HP:0001315	Reduced tendon reflexes
5193	PEX12	HP:0002617	Vascular dilatation
5193	PEX12	HP:0000157	Abnormality of the tongue
5193	PEX12	HP:0000174	Abnormal palate morphology
5193	PEX12	HP:0008935	Generalized neonatal hypotonia
5193	PEX12	HP:0007598	Bilateral single transverse palmar creases
5193	PEX12	HP:0000113	Polycystic kidney dysplasia
5193	PEX12	HP:0000126	Hydronephrosis
5193	PEX12	HP:0002024	Malabsorption
5193	PEX12	HP:0002021	Pyloric stenosis
5193	PEX12	HP:0003323	Progressive muscle weakness
5193	PEX12	HP:0100543	Cognitive impairment
5193	PEX12	HP:0002093	Respiratory insufficiency
5193	PEX12	HP:0005930	Abnormal epiphysis morphology
5193	PEX12	HP:0008167	Very long chain fatty acid accumulation
5193	PEX12	HP:0002126	Polymicrogyria
5193	PEX12	HP:0010571	Elevated circulating phytanic acid concentration
5193	PEX12	HP:0008207	Primary adrenal insufficiency
5193	PEX12	HP:0003593	Infantile onset
5193	PEX12	HP:0002269	Abnormality of neuronal migration
5193	PEX12	HP:0003577	Congenital onset
5193	PEX12	HP:0002240	Hepatomegaly
5193	PEX12	HP:0010655	Epiphyseal stippling
5193	PEX12	HP:0010628	Facial palsy
5193	PEX12	HP:0020045	Esodeviation
5193	PEX12	HP:0002376	Developmental regression
5193	PEX12	HP:0002353	EEG abnormality
5193	PEX12	HP:0001088	Brushfield spots
5193	PEX12	HP:0006829	Severe muscular hypotonia
5193	PEX12	HP:0000639	Nystagmus
5193	PEX12	HP:0000648	Optic atrophy
5193	PEX12	HP:0000627	Posterior embryotoxon
5193	PEX12	HP:0001928	Abnormality of coagulation
5193	PEX12	HP:0001939	Abnormality of metabolism/homeostasis
5193	PEX12	HP:0030473	Abnormal light-adapted flicker electroretinogram
5193	PEX12	HP:0011344	Severe global developmental delay
5193	PEX12	HP:0000662	Nyctalopia
5193	PEX12	HP:0001999	Abnormal facial shape
5193	PEX12	HP:0004322	Short stature
5193	PEX12	HP:0012736	Profound global developmental delay
5193	PEX12	HP:0100022	Abnormality of movement
5193	PEX12	HP:0000708	Atypical behavior
5193	PEX12	HP:0003146	Hypocholesterolemia
5193	PEX12	HP:0000954	Single transverse palmar crease
5193	PEX12	HP:0000952	Jaundice
5193	PEX12	HP:0000939	Osteoporosis
5193	PEX12	HP:0008064	Ichthyosis
5193	PEX12	HP:0011675	Arrhythmia
5193	PEX12	HP:0007703	Abnormality of retinal pigmentation
5193	PEX12	HP:0000286	Epicanthus
5193	PEX12	HP:0000260	Wide anterior fontanel
5193	PEX12	HP:0000256	Macrocephaly
5193	PEX12	HP:0000271	Abnormality of the face
5193	PEX12	HP:0000272	Malar flattening
5193	PEX12	HP:0000268	Dolichocephaly
5193	PEX12	HP:0000252	Microcephaly
5193	PEX12	HP:0000218	High palate
5193	PEX12	HP:0001522	Death in infancy
5193	PEX12	HP:0001508	Failure to thrive
5193	PEX12	HP:0012368	Flat face
5193	PEX12	HP:0000365	Hearing impairment
5193	PEX12	HP:0000369	Low-set ears
5193	PEX12	HP:0000368	Low-set, posteriorly rotated ears
5193	PEX12	HP:0000348	High forehead
5193	PEX12	HP:0000347	Micrognathia
5193	PEX12	HP:0001629	Ventricular septal defect
5193	PEX12	HP:0001622	Premature birth
5193	PEX12	HP:0001638	Cardiomyopathy
5193	PEX12	HP:0007957	Corneal opacity
5193	PEX12	HP:0000407	Sensorineural hearing impairment
5193	PEX12	HP:0005280	Depressed nasal bridge
5193	PEX12	HP:0000486	Strabismus
5193	PEX12	HP:0000463	Anteverted nares
5193	PEX12	HP:0000457	Depressed nasal ridge
5193	PEX12	HP:0000474	Thickened nuchal skin fold
5193	PEX12	HP:0000431	Wide nasal bridge
5193	PEX12	HP:0005469	Flat occiput
5193	PEX12	HP:0000518	Cataract
5193	PEX12	HP:0000510	Rod-cone dystrophy
5193	PEX12	HP:0000508	Ptosis
5193	PEX12	HP:0000505	Visual impairment
5193	PEX12	HP:0000501	Glaucoma
5193	PEX12	HP:0000582	Upslanted palpebral fissure
5193	PEX12	HP:0001892	Abnormal bleeding
5193	PEX12	HP:0000556	Retinal dystrophy
5193	PEX12	HP:0000532	Abnormal chorioretinal morphology
5194	PEX13	HP:0001133	Constriction of peripheral visual field
5194	PEX13	HP:0008572	External ear malformation
5194	PEX13	HP:0009891	Underdeveloped supraorbital ridges
5194	PEX13	HP:0001250	Seizure
5194	PEX13	HP:0001252	Hypotonia
5194	PEX13	HP:0001251	Ataxia
5194	PEX13	HP:0001263	Global developmental delay
5194	PEX13	HP:0001257	Spasticity
5194	PEX13	HP:0008665	Clitoral hypertrophy
5194	PEX13	HP:0001399	Hepatic failure
5194	PEX13	HP:0001392	Abnormality of the liver
5194	PEX13	HP:0000047	Hypospadias
5194	PEX13	HP:0001347	Hyperreflexia
5194	PEX13	HP:0000028	Cryptorchidism
5194	PEX13	HP:0008872	Feeding difficulties in infancy
5194	PEX13	HP:0001324	Muscle weakness
5194	PEX13	HP:0001339	Lissencephaly
5194	PEX13	HP:0000007	Autosomal recessive inheritance
5194	PEX13	HP:0000003	Multicystic kidney dysplasia
5194	PEX13	HP:0002652	Skeletal dysplasia
5194	PEX13	HP:0001315	Reduced tendon reflexes
5194	PEX13	HP:0000157	Abnormality of the tongue
5194	PEX13	HP:0000174	Abnormal palate morphology
5194	PEX13	HP:0008947	Infantile muscular hypotonia
5194	PEX13	HP:0007598	Bilateral single transverse palmar creases
5194	PEX13	HP:0000126	Hydronephrosis
5194	PEX13	HP:0000107	Renal cyst
5194	PEX13	HP:0001433	Hepatosplenomegaly
5194	PEX13	HP:0001410	Decreased liver function
5194	PEX13	HP:0002024	Malabsorption
5194	PEX13	HP:0002021	Pyloric stenosis
5194	PEX13	HP:0003323	Progressive muscle weakness
5194	PEX13	HP:0100543	Cognitive impairment
5194	PEX13	HP:0002093	Respiratory insufficiency
5194	PEX13	HP:0005930	Abnormal epiphysis morphology
5194	PEX13	HP:0008167	Very long chain fatty acid accumulation
5194	PEX13	HP:0002126	Polymicrogyria
5194	PEX13	HP:0003429	CNS hypomyelination
5194	PEX13	HP:0002104	Apnea
5194	PEX13	HP:0010571	Elevated circulating phytanic acid concentration
5194	PEX13	HP:0008207	Primary adrenal insufficiency
5194	PEX13	HP:0002269	Abnormality of neuronal migration
5194	PEX13	HP:0002240	Hepatomegaly
5194	PEX13	HP:0100729	Large face
5194	PEX13	HP:0010655	Epiphyseal stippling
5194	PEX13	HP:0011968	Feeding difficulties
5194	PEX13	HP:0010628	Facial palsy
5194	PEX13	HP:0011947	Respiratory tract infection
5194	PEX13	HP:0002376	Developmental regression
5194	PEX13	HP:0002353	EEG abnormality
5194	PEX13	HP:0001088	Brushfield spots
5194	PEX13	HP:0006829	Severe muscular hypotonia
5194	PEX13	HP:0005562	Multiple renal cysts
5194	PEX13	HP:0000639	Nystagmus
5194	PEX13	HP:0000648	Optic atrophy
5194	PEX13	HP:0000627	Posterior embryotoxon
5194	PEX13	HP:0001928	Abnormality of coagulation
5194	PEX13	HP:0001939	Abnormality of metabolism/homeostasis
5194	PEX13	HP:0011344	Severe global developmental delay
5194	PEX13	HP:0000662	Nyctalopia
5194	PEX13	HP:0004322	Short stature
5194	PEX13	HP:0012736	Profound global developmental delay
5194	PEX13	HP:0100022	Abnormality of movement
5194	PEX13	HP:0000708	Atypical behavior
5194	PEX13	HP:0011463	Childhood onset
5194	PEX13	HP:0000952	Jaundice
5194	PEX13	HP:0008064	Ichthyosis
5194	PEX13	HP:0011675	Arrhythmia
5194	PEX13	HP:0007703	Abnormality of retinal pigmentation
5194	PEX13	HP:0000286	Epicanthus
5194	PEX13	HP:0000260	Wide anterior fontanel
5194	PEX13	HP:0000256	Macrocephaly
5194	PEX13	HP:0000271	Abnormality of the face
5194	PEX13	HP:0000268	Dolichocephaly
5194	PEX13	HP:0000239	Large fontanelles
5194	PEX13	HP:0000252	Microcephaly
5194	PEX13	HP:0000218	High palate
5194	PEX13	HP:0001522	Death in infancy
5194	PEX13	HP:0001508	Failure to thrive
5194	PEX13	HP:0012368	Flat face
5194	PEX13	HP:0002910	Elevated hepatic transaminase
5194	PEX13	HP:0000365	Hearing impairment
5194	PEX13	HP:0000368	Low-set, posteriorly rotated ears
5194	PEX13	HP:0000348	High forehead
5194	PEX13	HP:0000347	Micrognathia
5194	PEX13	HP:0000325	Triangular face
5194	PEX13	HP:0001629	Ventricular septal defect
5194	PEX13	HP:0001622	Premature birth
5194	PEX13	HP:0001638	Cardiomyopathy
5194	PEX13	HP:0007957	Corneal opacity
5194	PEX13	HP:0000407	Sensorineural hearing impairment
5194	PEX13	HP:0005280	Depressed nasal bridge
5194	PEX13	HP:0000486	Strabismus
5194	PEX13	HP:0000463	Anteverted nares
5194	PEX13	HP:0000474	Thickened nuchal skin fold
5194	PEX13	HP:0000431	Wide nasal bridge
5194	PEX13	HP:0005469	Flat occiput
5194	PEX13	HP:0000518	Cataract
5194	PEX13	HP:0000510	Rod-cone dystrophy
5194	PEX13	HP:0000508	Ptosis
5194	PEX13	HP:0000505	Visual impairment
5194	PEX13	HP:0000501	Glaucoma
5194	PEX13	HP:0000582	Upslanted palpebral fissure
5194	PEX13	HP:0000572	Visual loss
5194	PEX13	HP:0000532	Abnormal chorioretinal morphology
5195	PEX14	HP:0001133	Constriction of peripheral visual field
5195	PEX14	HP:0008572	External ear malformation
5195	PEX14	HP:0009891	Underdeveloped supraorbital ridges
5195	PEX14	HP:0001290	Generalized hypotonia
5195	PEX14	HP:0001284	Areflexia
5195	PEX14	HP:0001250	Seizure
5195	PEX14	HP:0001252	Hypotonia
5195	PEX14	HP:0001251	Ataxia
5195	PEX14	HP:0001263	Global developmental delay
5195	PEX14	HP:0001257	Spasticity
5195	PEX14	HP:0008665	Clitoral hypertrophy
5195	PEX14	HP:0033643	Increased circulating very long-chain fatty acid concentration
5195	PEX14	HP:0003811	Neonatal death
5195	PEX14	HP:0001399	Hepatic failure
5195	PEX14	HP:0001392	Abnormality of the liver
5195	PEX14	HP:0000047	Hypospadias
5195	PEX14	HP:0001347	Hyperreflexia
5195	PEX14	HP:0000028	Cryptorchidism
5195	PEX14	HP:0008872	Feeding difficulties in infancy
5195	PEX14	HP:0000007	Autosomal recessive inheritance
5195	PEX14	HP:0000003	Multicystic kidney dysplasia
5195	PEX14	HP:0002652	Skeletal dysplasia
5195	PEX14	HP:0001315	Reduced tendon reflexes
5195	PEX14	HP:0000157	Abnormality of the tongue
5195	PEX14	HP:0000174	Abnormal palate morphology
5195	PEX14	HP:0001476	Delayed closure of the anterior fontanelle
5195	PEX14	HP:0008936	Axial hypotonia
5195	PEX14	HP:0007598	Bilateral single transverse palmar creases
5195	PEX14	HP:0000126	Hydronephrosis
5195	PEX14	HP:0001406	Intrahepatic cholestasis
5195	PEX14	HP:0002024	Malabsorption
5195	PEX14	HP:0002021	Pyloric stenosis
5195	PEX14	HP:0003323	Progressive muscle weakness
5195	PEX14	HP:0100543	Cognitive impairment
5195	PEX14	HP:0002093	Respiratory insufficiency
5195	PEX14	HP:0005930	Abnormal epiphysis morphology
5195	PEX14	HP:0008167	Very long chain fatty acid accumulation
5195	PEX14	HP:0002126	Polymicrogyria
5195	PEX14	HP:0010571	Elevated circulating phytanic acid concentration
5195	PEX14	HP:0008207	Primary adrenal insufficiency
5195	PEX14	HP:0003593	Infantile onset
5195	PEX14	HP:0002269	Abnormality of neuronal migration
5195	PEX14	HP:0003577	Congenital onset
5195	PEX14	HP:0002240	Hepatomegaly
5195	PEX14	HP:0002282	Gray matter heterotopia
5195	PEX14	HP:0010655	Epiphyseal stippling
5195	PEX14	HP:0011968	Feeding difficulties
5195	PEX14	HP:0010628	Facial palsy
5195	PEX14	HP:0002376	Developmental regression
5195	PEX14	HP:0002353	EEG abnormality
5195	PEX14	HP:0001088	Brushfield spots
5195	PEX14	HP:0006829	Severe muscular hypotonia
5195	PEX14	HP:0000639	Nystagmus
5195	PEX14	HP:0000648	Optic atrophy
5195	PEX14	HP:0000627	Posterior embryotoxon
5195	PEX14	HP:0001928	Abnormality of coagulation
5195	PEX14	HP:0001939	Abnormality of metabolism/homeostasis
5195	PEX14	HP:0011344	Severe global developmental delay
5195	PEX14	HP:0000662	Nyctalopia
5195	PEX14	HP:0004322	Short stature
5195	PEX14	HP:0031956	Elevated circulating aspartate aminotransferase concentration
5195	PEX14	HP:0031964	Elevated circulating alanine aminotransferase concentration
5195	PEX14	HP:0012736	Profound global developmental delay
5195	PEX14	HP:0100022	Abnormality of movement
5195	PEX14	HP:0000708	Atypical behavior
5195	PEX14	HP:0003215	Dicarboxylic aciduria
5195	PEX14	HP:0000952	Jaundice
5195	PEX14	HP:0008064	Ichthyosis
5195	PEX14	HP:0011675	Arrhythmia
5195	PEX14	HP:0007703	Abnormality of retinal pigmentation
5195	PEX14	HP:0000286	Epicanthus
5195	PEX14	HP:0000260	Wide anterior fontanel
5195	PEX14	HP:0000256	Macrocephaly
5195	PEX14	HP:0000271	Abnormality of the face
5195	PEX14	HP:0000268	Dolichocephaly
5195	PEX14	HP:0000239	Large fontanelles
5195	PEX14	HP:0000252	Microcephaly
5195	PEX14	HP:0000218	High palate
5195	PEX14	HP:0001522	Death in infancy
5195	PEX14	HP:0001508	Failure to thrive
5195	PEX14	HP:0012368	Flat face
5195	PEX14	HP:0006571	Reduced number of intrahepatic bile ducts
5195	PEX14	HP:0002908	Conjugated hyperbilirubinemia
5195	PEX14	HP:0000365	Hearing impairment
5195	PEX14	HP:0000368	Low-set, posteriorly rotated ears
5195	PEX14	HP:0000348	High forehead
5195	PEX14	HP:0000347	Micrognathia
5195	PEX14	HP:0000325	Triangular face
5195	PEX14	HP:0001629	Ventricular septal defect
5195	PEX14	HP:0001622	Premature birth
5195	PEX14	HP:0001638	Cardiomyopathy
5195	PEX14	HP:0007957	Corneal opacity
5195	PEX14	HP:0000407	Sensorineural hearing impairment
5195	PEX14	HP:0005280	Depressed nasal bridge
5195	PEX14	HP:0000486	Strabismus
5195	PEX14	HP:0000463	Anteverted nares
5195	PEX14	HP:0000474	Thickened nuchal skin fold
5195	PEX14	HP:0000431	Wide nasal bridge
5195	PEX14	HP:0005469	Flat occiput
5195	PEX14	HP:0000518	Cataract
5195	PEX14	HP:0000510	Rod-cone dystrophy
5195	PEX14	HP:0000508	Ptosis
5195	PEX14	HP:0000505	Visual impairment
5195	PEX14	HP:0000501	Glaucoma
5195	PEX14	HP:0000582	Upslanted palpebral fissure
5195	PEX14	HP:0000532	Abnormal chorioretinal morphology
5199	CFP	HP:0001419	X-linked recessive inheritance
5199	CFP	HP:0001939	Abnormality of metabolism/homeostasis
5199	CFP	HP:0005423	Dysfunctional alternative complement pathway
5205	ATP8B1	HP:0025116	Fetal distress
5205	ATP8B1	HP:0001394	Cirrhosis
5205	ATP8B1	HP:0000007	Autosomal recessive inheritance
5205	ATP8B1	HP:0001337	Tremor
5205	ATP8B1	HP:0000006	Autosomal dominant inheritance
5205	ATP8B1	HP:0002643	Neonatal respiratory distress
5205	ATP8B1	HP:0002630	Fat malabsorption
5205	ATP8B1	HP:0012164	Asterixis
5205	ATP8B1	HP:0001406	Intrahepatic cholestasis
5205	ATP8B1	HP:0002748	Rickets
5205	ATP8B1	HP:0031248	Palmar pruritus
5205	ATP8B1	HP:0002027	Abdominal pain
5205	ATP8B1	HP:0002014	Diarrhea
5205	ATP8B1	HP:0030900	Pruritus on foot
5205	ATP8B1	HP:0003593	Infantile onset
5205	ATP8B1	HP:0002240	Hepatomegaly
5205	ATP8B1	HP:0200148	Abnormal liver function tests during pregnancy
5205	ATP8B1	HP:0200150	Increased serum bile acid concentration during pregnancy
5205	ATP8B1	HP:0100785	Insomnia
5205	ATP8B1	HP:0001046	Intermittent jaundice
5205	ATP8B1	HP:0100602	Preeclampsia
5205	ATP8B1	HP:0025031	Abnormality of the digestive system
5205	ATP8B1	HP:0001081	Cholelithiasis
5205	ATP8B1	HP:0001082	Cholecystitis
5205	ATP8B1	HP:0003621	Juvenile onset
5205	ATP8B1	HP:0012689	Abnormal pineal melatonin secretion
5205	ATP8B1	HP:0004322	Short stature
5205	ATP8B1	HP:0000716	Depression
5205	ATP8B1	HP:0030782	Abnormal circulating interleukin concentration
5205	ATP8B1	HP:0003155	Elevated circulating alkaline phosphatase concentration
5205	ATP8B1	HP:0000821	Hypothyroidism
5205	ATP8B1	HP:0030828	Wheezing
5205	ATP8B1	HP:0000989	Pruritus
5205	ATP8B1	HP:0000988	Skin rash
5205	ATP8B1	HP:0000952	Jaundice
5205	ATP8B1	HP:0000938	Osteopenia
5205	ATP8B1	HP:0012202	Increased serum bile acid concentration
5205	ATP8B1	HP:0001541	Ascites
5205	ATP8B1	HP:0001508	Failure to thrive
5205	ATP8B1	HP:0001518	Small for gestational age
5205	ATP8B1	HP:0006575	Intrahepatic cholestasis with episodic jaundice
5205	ATP8B1	HP:0002910	Elevated hepatic transaminase
5205	ATP8B1	HP:0002908	Conjugated hyperbilirubinemia
5205	ATP8B1	HP:0002904	Hyperbilirubinemia
5205	ATP8B1	HP:0000365	Hearing impairment
5205	ATP8B1	HP:0002960	Autoimmunity
5205	ATP8B1	HP:0001622	Premature birth
5205	ATP8B1	HP:0001733	Pancreatitis
5205	ATP8B1	HP:0001732	Abnormality of the pancreas
5205	ATP8B1	HP:0012420	Meconium stained amniotic fluid
5205	ATP8B1	HP:0001744	Splenomegaly
5205	ATP8B1	HP:0000421	Epistaxis
5213	PFKM	HP:0002486	Myotonia
5213	PFKM	HP:0003710	Exercise-induced muscle cramps
5213	PFKM	HP:0003828	Variable expressivity
5213	PFKM	HP:0001324	Muscle weakness
5213	PFKM	HP:0000007	Autosomal recessive inheritance
5213	PFKM	HP:0002149	Hyperuricemia
5213	PFKM	HP:0003573	Increased total bilirubin
5213	PFKM	HP:0003546	Exercise intolerance
5213	PFKM	HP:0008305	Exercise-induced myoglobinuria
5213	PFKM	HP:0001081	Cholelithiasis
5213	PFKM	HP:0001923	Reticulocytosis
5213	PFKM	HP:0001903	Anemia
5213	PFKM	HP:0009051	Increased muscle glycogen content
5213	PFKM	HP:0001997	Gout
5213	PFKM	HP:0003202	Skeletal muscle atrophy
5213	PFKM	HP:0000952	Jaundice
5213	PFKM	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration
5213	PFKM	HP:0001878	Hemolytic anemia
5216	PFN1	HP:0001260	Dysarthria
5216	PFN1	HP:0001257	Spasticity
5216	PFN1	HP:0007373	Motor neuron atrophy
5216	PFN1	HP:0007354	Amyotrophic lateral sclerosis
5216	PFN1	HP:0001324	Muscle weakness
5216	PFN1	HP:0000006	Autosomal dominant inheritance
5216	PFN1	HP:0025425	Laryngospasm
5216	PFN1	HP:0002795	Abnormal respiratory system physiology
5216	PFN1	HP:0002017	Nausea and vomiting
5216	PFN1	HP:0002015	Dysphagia
5216	PFN1	HP:0003324	Generalized muscle weakness
5216	PFN1	HP:0002094	Dyspnea
5216	PFN1	HP:0003394	Muscle spasm
5216	PFN1	HP:0003470	Paralysis
5216	PFN1	HP:0002180	Neurodegeneration
5216	PFN1	HP:0002380	Fasciculations
5216	PFN1	HP:0000739	Anxiety
5216	PFN1	HP:0000716	Depression
5216	PFN1	HP:0000712	Emotional lability
5216	PFN1	HP:0000713	Agitation
5216	PFN1	HP:0003202	Skeletal muscle atrophy
5216	PFN1	HP:0000217	Xerostomia
5216	PFN1	HP:0002878	Respiratory failure
5216	PFN1	HP:0012378	Fatigue
5216	PFN1	HP:0030196	Fatigable weakness of respiratory muscles
5216	PFN1	HP:0030195	Fatigable weakness of swallowing muscles
5216	PFN1	HP:0030192	Fatigable weakness of bulbar muscles
5216	PFN1	HP:0012531	Pain
5224	PGAM2	HP:0003738	Exercise-induced myalgia
5224	PGAM2	HP:0003710	Exercise-induced muscle cramps
5224	PGAM2	HP:0000083	Renal insufficiency
5224	PGAM2	HP:0000007	Autosomal recessive inheritance
5224	PGAM2	HP:0003546	Exercise intolerance
5224	PGAM2	HP:0003198	Myopathy
5224	PGAM2	HP:0003236	Elevated circulating creatine kinase concentration
5224	PGAM2	HP:0003201	Rhabdomyolysis
5224	PGAM2	HP:0002913	Myoglobinuria
5230	PGK1	HP:0003738	Exercise-induced myalgia
5230	PGK1	HP:0003710	Exercise-induced muscle cramps
5230	PGK1	HP:0001250	Seizure
5230	PGK1	HP:0001251	Ataxia
5230	PGK1	HP:0001249	Intellectual disability
5230	PGK1	HP:0001263	Global developmental delay
5230	PGK1	HP:0000083	Renal insufficiency
5230	PGK1	HP:0001324	Muscle weakness
5230	PGK1	HP:0001337	Tremor
5230	PGK1	HP:0012132	Erythroid hyperplasia
5230	PGK1	HP:0001419	X-linked recessive inheritance
5230	PGK1	HP:0003394	Muscle spasm
5230	PGK1	HP:0002076	Migraine
5230	PGK1	HP:0003546	Exercise intolerance
5230	PGK1	HP:0008305	Exercise-induced myoglobinuria
5230	PGK1	HP:0020062	Decreased hemoglobin concentration
5230	PGK1	HP:0003621	Juvenile onset
5230	PGK1	HP:0000618	Blindness
5230	PGK1	HP:0001923	Reticulocytosis
5230	PGK1	HP:0009020	Exercise-induced muscle fatigue
5230	PGK1	HP:0012638	Abnormal nervous system physiology
5230	PGK1	HP:0000750	Delayed speech and language development
5230	PGK1	HP:0000712	Emotional lability
5230	PGK1	HP:0003198	Myopathy
5230	PGK1	HP:0003201	Rhabdomyolysis
5230	PGK1	HP:0002913	Myoglobinuria
5230	PGK1	HP:0002904	Hyperbilirubinemia
5230	PGK1	HP:0000556	Retinal dystrophy
5230	PGK1	HP:0000572	Visual loss
5230	PGK1	HP:0001878	Hemolytic anemia
5236	PGM1	HP:0001270	Motor delay
5236	PGM1	HP:0001252	Hypotonia
5236	PGM1	HP:0001263	Global developmental delay
5236	PGM1	HP:0001397	Hepatic steatosis
5236	PGM1	HP:0001324	Muscle weakness
5236	PGM1	HP:0000007	Autosomal recessive inheritance
5236	PGM1	HP:0000193	Bifid uvula
5236	PGM1	HP:0000175	Cleft palate
5236	PGM1	HP:0012115	Hepatitis
5236	PGM1	HP:0000126	Hydronephrosis
5236	PGM1	HP:0001406	Intrahepatic cholestasis
5236	PGM1	HP:0002028	Chronic diarrhea
5236	PGM1	HP:0002013	Vomiting
5236	PGM1	HP:0002094	Dyspnea
5236	PGM1	HP:0002092	Pulmonary arterial hypertension
5236	PGM1	HP:0002047	Malignant hyperthermia
5236	PGM1	HP:0008151	Prolonged prothrombin time
5236	PGM1	HP:0002240	Hepatomegaly
5236	PGM1	HP:0003546	Exercise intolerance
5236	PGM1	HP:0200123	Chronic hepatitis
5236	PGM1	HP:0003645	Prolonged partial thromboplastin time
5236	PGM1	HP:0001976	Reduced antithrombin III activity
5236	PGM1	HP:0001943	Hypoglycemia
5236	PGM1	HP:0004322	Short stature
5236	PGM1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
5236	PGM1	HP:0031964	Elevated circulating alanine aminotransferase concentration
5236	PGM1	HP:0003160	Abnormal isoelectric focusing of serum transferrin
5236	PGM1	HP:0000823	Delayed puberty
5236	PGM1	HP:0003236	Elevated circulating creatine kinase concentration
5236	PGM1	HP:0003201	Rhabdomyolysis
5236	PGM1	HP:0000201	Pierre-Robin sequence
5236	PGM1	HP:0001510	Growth delay
5236	PGM1	HP:0012378	Fatigue
5236	PGM1	HP:0006568	Increased hepatic glycogen content
5236	PGM1	HP:0002910	Elevated hepatic transaminase
5236	PGM1	HP:0001680	Coarctation of aorta
5236	PGM1	HP:0000347	Micrognathia
5236	PGM1	HP:0001649	Tachycardia
5236	PGM1	HP:0001645	Sudden cardiac death
5236	PGM1	HP:0001644	Dilated cardiomyopathy
5236	PGM1	HP:0001629	Ventricular septal defect
5236	PGM1	HP:0001640	Cardiomegaly
5236	PGM1	HP:0031628	Aborted sudden cardiac death
5236	PGM1	HP:0005305	Cerebral venous thrombosis
5236	PGM1	HP:0000403	Recurrent otitis media
5236	PGM1	HP:0030353	Decreased serum insulin-like growth factor 1
5236	PGM1	HP:0000592	Blue sclerae
5238	PGM3	HP:0001156	Brachydactyly
5238	PGM3	HP:0008587	Mild neurosensory hearing impairment
5238	PGM3	HP:0001290	Generalized hypotonia
5238	PGM3	HP:0100806	Sepsis
5238	PGM3	HP:0001250	Seizure
5238	PGM3	HP:0001252	Hypotonia
5238	PGM3	HP:0001251	Ataxia
5238	PGM3	HP:0001249	Intellectual disability
5238	PGM3	HP:0001265	Hyporeflexia
5238	PGM3	HP:0001260	Dysarthria
5238	PGM3	HP:0001263	Global developmental delay
5238	PGM3	HP:0410323	Drug allergy
5238	PGM3	HP:0001382	Joint hypermobility
5238	PGM3	HP:0007499	Recurrent staphylococcal infections
5238	PGM3	HP:0000007	Autosomal recessive inheritance
5238	PGM3	HP:0002665	Lymphoma
5238	PGM3	HP:0001336	Myoclonus
5238	PGM3	HP:0002650	Scoliosis
5238	PGM3	HP:0002616	Aortic root aneurysm
5238	PGM3	HP:0012189	Hodgkin lymphoma
5238	PGM3	HP:0500093	Food allergy
5238	PGM3	HP:0031292	Cutaneous abscess
5238	PGM3	HP:0002754	Osteomyelitis
5238	PGM3	HP:0002719	Recurrent infections
5238	PGM3	HP:0002718	Recurrent bacterial infections
5238	PGM3	HP:0002728	Chronic mucocutaneous candidiasis
5238	PGM3	HP:0002726	Recurrent Staphylococcus aureus infections
5238	PGM3	HP:0002721	Immunodeficiency
5238	PGM3	HP:0002020	Gastroesophageal reflux
5238	PGM3	HP:0002099	Asthma
5238	PGM3	HP:0002043	Esophageal stricture
5238	PGM3	HP:0003474	Somatic sensory dysfunction
5238	PGM3	HP:0004789	Lactose intolerance
5238	PGM3	HP:0002110	Bronchiectasis
5238	PGM3	HP:0003496	Increased circulating IgM level
5238	PGM3	HP:0200101	Decreased/absent ankle reflexes
5238	PGM3	HP:0002205	Recurrent respiratory infections
5238	PGM3	HP:0020072	Persistent EBV viremia
5238	PGM3	HP:0007083	Hyperactive patellar reflex
5238	PGM3	HP:0001047	Atopic dermatitis
5238	PGM3	HP:0002342	Intellectual disability, moderate
5238	PGM3	HP:0200029	Vasculitis in the skin
5238	PGM3	HP:0200042	Skin ulcer
5238	PGM3	HP:0100633	Esophagitis
5238	PGM3	HP:0010783	Erythema
5238	PGM3	HP:0032163	Molluscum contagiosum
5238	PGM3	HP:0032170	Severe varicella zoster infection
5238	PGM3	HP:0005528	Bone marrow hypocellularity
5238	PGM3	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
5238	PGM3	HP:0011343	Moderate global developmental delay
5238	PGM3	HP:0001999	Abnormal facial shape
5238	PGM3	HP:0004322	Short stature
5238	PGM3	HP:0011400	Abnormal CNS myelination
5238	PGM3	HP:0000793	Membranoproliferative glomerulonephritis
5238	PGM3	HP:0004430	Severe combined immunodeficiency
5238	PGM3	HP:0004429	Recurrent viral infections
5238	PGM3	HP:0003193	Allergic rhinitis
5238	PGM3	HP:0000924	Abnormality of the skeletal system
5238	PGM3	HP:0003237	Increased circulating IgG level
5238	PGM3	HP:0003212	Increased circulating IgE level
5238	PGM3	HP:0040218	Reduced natural killer cell count
5238	PGM3	HP:0045080	Decreased proportion of CD3-positive T cells
5238	PGM3	HP:0003261	Increased circulating IgA level
5238	PGM3	HP:0000964	Eczema
5238	PGM3	HP:0045025	Narrow palpebral fissure
5238	PGM3	HP:0040148	Cortical myoclonus
5238	PGM3	HP:0031402	Reduced antigen-specific T cell proliferation
5238	PGM3	HP:0031393	Abnormal proportion of CD8-positive T cells
5238	PGM3	HP:0031394	Abnormal CD4:CD8 ratio
5238	PGM3	HP:0001581	Recurrent skin infections
5238	PGM3	HP:0000218	High palate
5238	PGM3	HP:0001508	Failure to thrive
5238	PGM3	HP:0002841	Recurrent fungal infections
5238	PGM3	HP:0000389	Chronic otitis media
5238	PGM3	HP:0006532	Recurrent pneumonia
5238	PGM3	HP:0002923	Rheumatoid factor positive
5238	PGM3	HP:0025615	Abscess
5238	PGM3	HP:0002960	Autoimmunity
5238	PGM3	HP:0000407	Sensorineural hearing impairment
5238	PGM3	HP:0000405	Conductive hearing impairment
5238	PGM3	HP:0011109	Chronic sinusitis
5238	PGM3	HP:0005407	Decreased proportion of CD4-positive helper T cells
5238	PGM3	HP:0005403	T lymphocytopenia
5238	PGM3	HP:0001888	Lymphopenia
5238	PGM3	HP:0001880	Eosinophilia
5238	PGM3	HP:0001882	Leukopenia
5238	PGM3	HP:0001878	Hemolytic anemia
5238	PGM3	HP:0001875	Neutropenia
5241	PGR	HP:0000007	Autosomal recessive inheritance
5241	PGR	HP:0008222	Female infertility
5241	PGR	HP:0001939	Abnormality of metabolism/homeostasis
5243	ABCB1	HP:0002037	Inflammation of the large intestine
5244	ABCB4	HP:0025116	Fetal distress
5244	ABCB4	HP:0001396	Cholestasis
5244	ABCB4	HP:0001395	Hepatic fibrosis
5244	ABCB4	HP:0001394	Cirrhosis
5244	ABCB4	HP:0000007	Autosomal recessive inheritance
5244	ABCB4	HP:0001337	Tremor
5244	ABCB4	HP:0000006	Autosomal dominant inheritance
5244	ABCB4	HP:0002643	Neonatal respiratory distress
5244	ABCB4	HP:0002613	Biliary cirrhosis
5244	ABCB4	HP:0012164	Asterixis
5244	ABCB4	HP:0001408	Bile duct proliferation
5244	ABCB4	HP:0001406	Intrahepatic cholestasis
5244	ABCB4	HP:0001402	Hepatocellular carcinoma
5244	ABCB4	HP:0031248	Palmar pruritus
5244	ABCB4	HP:0002024	Malabsorption
5244	ABCB4	HP:0002027	Abdominal pain
5244	ABCB4	HP:0030991	Sclerosing cholangitis
5244	ABCB4	HP:0002014	Diarrhea
5244	ABCB4	HP:0100523	Liver abscess
5244	ABCB4	HP:0030900	Pruritus on foot
5244	ABCB4	HP:0033196	Portal inflammation
5244	ABCB4	HP:0030948	Elevated gamma-glutamyltransferase level
5244	ABCB4	HP:0011848	Abdominal colic
5244	ABCB4	HP:0003593	Infantile onset
5244	ABCB4	HP:0002240	Hepatomegaly
5244	ABCB4	HP:0003581	Adult onset
5244	ABCB4	HP:0200148	Abnormal liver function tests during pregnancy
5244	ABCB4	HP:0200150	Increased serum bile acid concentration during pregnancy
5244	ABCB4	HP:0100785	Insomnia
5244	ABCB4	HP:0011980	Cholesterol gallstones
5244	ABCB4	HP:0100602	Preeclampsia
5244	ABCB4	HP:0025031	Abnormality of the digestive system
5244	ABCB4	HP:0001081	Cholelithiasis
5244	ABCB4	HP:0001082	Cholecystitis
5244	ABCB4	HP:0012689	Abnormal pineal melatonin secretion
5244	ABCB4	HP:0000716	Depression
5244	ABCB4	HP:0003124	Hypercholesterolemia
5244	ABCB4	HP:0030782	Abnormal circulating interleukin concentration
5244	ABCB4	HP:0003155	Elevated circulating alkaline phosphatase concentration
5244	ABCB4	HP:0000819	Diabetes mellitus
5244	ABCB4	HP:0000822	Hypertension
5244	ABCB4	HP:0000821	Hypothyroidism
5244	ABCB4	HP:0000989	Pruritus
5244	ABCB4	HP:0000988	Skin rash
5244	ABCB4	HP:0000952	Jaundice
5244	ABCB4	HP:0002896	Neoplasm of the liver
5244	ABCB4	HP:0012202	Increased serum bile acid concentration
5244	ABCB4	HP:0025502	Overweight
5244	ABCB4	HP:0001541	Ascites
5244	ABCB4	HP:0001518	Small for gestational age
5244	ABCB4	HP:0001513	Obesity
5244	ABCB4	HP:0006580	Portal fibrosis
5244	ABCB4	HP:0005230	Biliary tract obstruction
5244	ABCB4	HP:0002910	Elevated hepatic transaminase
5244	ABCB4	HP:0002904	Hyperbilirubinemia
5244	ABCB4	HP:0030151	Cholangitis
5244	ABCB4	HP:0002960	Autoimmunity
5244	ABCB4	HP:0001622	Premature birth
5244	ABCB4	HP:0001733	Pancreatitis
5244	ABCB4	HP:0001732	Abnormality of the pancreas
5244	ABCB4	HP:0012420	Meconium stained amniotic fluid
5244	ABCB4	HP:0001744	Splenomegaly
5245	PHB1	HP:0000006	Autosomal dominant inheritance
5245	PHB1	HP:0001428	Somatic mutation
5245	PHB1	HP:0003002	Breast carcinoma
5250	SLC25A3	HP:0001252	Hypotonia
5250	SLC25A3	HP:0012087	Abnormal mitochondrial shape
5250	SLC25A3	HP:0000007	Autosomal recessive inheritance
5250	SLC25A3	HP:0012103	Abnormality of the mitochondrion
5250	SLC25A3	HP:0002098	Respiratory distress
5250	SLC25A3	HP:0002093	Respiratory insufficiency
5250	SLC25A3	HP:0002151	Increased serum lactate
5250	SLC25A3	HP:0009805	Low-output congestive heart failure
5250	SLC25A3	HP:0001942	Metabolic acidosis
5250	SLC25A3	HP:0003198	Myopathy
5250	SLC25A3	HP:0003128	Lactic acidosis
5250	SLC25A3	HP:0000961	Cyanosis
5250	SLC25A3	HP:0001508	Failure to thrive
5250	SLC25A3	HP:0001639	Hypertrophic cardiomyopathy
5251	PHEX	HP:0003856	Upper limb metaphyseal widening
5251	PHEX	HP:0025369	Thick growth plates
5251	PHEX	HP:0001376	Limitation of joint mobility
5251	PHEX	HP:0001369	Arthritis
5251	PHEX	HP:0025335	Delayed ability to stand
5251	PHEX	HP:0001363	Craniosynostosis
5251	PHEX	HP:0002653	Bone pain
5251	PHEX	HP:0002644	Abnormal pelvic girdle bone morphology
5251	PHEX	HP:0006285	Enamel hypomineralization
5251	PHEX	HP:0000117	Renal phosphate wasting
5251	PHEX	HP:0000124	Renal tubular dysfunction
5251	PHEX	HP:0002758	Osteoarthritis
5251	PHEX	HP:0001423	X-linked dominant inheritance
5251	PHEX	HP:0002748	Rickets
5251	PHEX	HP:0002749	Osteomalacia
5251	PHEX	HP:0002007	Frontal bossing
5251	PHEX	HP:0008117	Shortening of the talar neck
5251	PHEX	HP:0005930	Abnormal epiphysis morphology
5251	PHEX	HP:0008144	Flattening of the talar dome
5251	PHEX	HP:0002148	Hypophosphatemia
5251	PHEX	HP:0003416	Spinal canal stenosis
5251	PHEX	HP:0003498	Disproportionate short stature
5251	PHEX	HP:0002176	Spinal cord compression
5251	PHEX	HP:0010502	Fibular bowing
5251	PHEX	HP:0003593	Infantile onset
5251	PHEX	HP:0100658	Cellulitis
5251	PHEX	HP:0100686	Enthesitis
5251	PHEX	HP:0008442	Vertebral hyperostosis
5251	PHEX	HP:0002308	Chiari malformation
5251	PHEX	HP:0004912	Hypophosphatemic rickets
5251	PHEX	HP:0000694	Odontodysplasia
5251	PHEX	HP:0004322	Short stature
5251	PHEX	HP:0004363	Abnormal circulating calcium concentration
5251	PHEX	HP:0003025	Metaphyseal irregularity
5251	PHEX	HP:0031936	Delayed ability to walk
5251	PHEX	HP:0004349	Reduced bone mineral density
5251	PHEX	HP:0030757	Tooth abscess
5251	PHEX	HP:0010299	Abnormal dentin morphology
5251	PHEX	HP:0000920	Enlargement of the costochondral junction
5251	PHEX	HP:0000923	Beaded ribs
5251	PHEX	HP:0003155	Elevated circulating alkaline phosphatase concentration
5251	PHEX	HP:0003165	Elevated circulating parathyroid hormone level
5251	PHEX	HP:0003127	Hypocalciuria
5251	PHEX	HP:0005789	Generalized osteosclerosis
5251	PHEX	HP:0000897	Rachitic rosary
5251	PHEX	HP:0006432	Trapezoidal distal femoral condyles
5251	PHEX	HP:0002829	Arthralgia
5251	PHEX	HP:0002857	Genu valgum
5251	PHEX	HP:0002869	Flared iliac wing
5251	PHEX	HP:0001510	Growth delay
5251	PHEX	HP:0006490	Abnormal lower-limb metaphysis morphology
5251	PHEX	HP:0006487	Bowing of the long bones
5251	PHEX	HP:0002982	Tibial bowing
5251	PHEX	HP:0002980	Femoral bowing
5251	PHEX	HP:0002979	Bowing of the legs
5251	PHEX	HP:0002970	Genu varum
5251	PHEX	HP:0000407	Sensorineural hearing impairment
5251	PHEX	HP:0012449	Sacroiliac joint synovitis
5255	PHKA1	HP:0002460	Distal muscle weakness
5255	PHKA1	HP:0003749	Pelvic girdle muscle weakness
5255	PHKA1	HP:0003731	Quadriceps muscle weakness
5255	PHKA1	HP:0003738	Exercise-induced myalgia
5255	PHKA1	HP:0003713	Muscle fiber necrosis
5255	PHKA1	HP:0007340	Lower limb muscle weakness
5255	PHKA1	HP:0001324	Muscle weakness
5255	PHKA1	HP:0008967	Exercise-induced muscle stiffness
5255	PHKA1	HP:0001419	X-linked recessive inheritance
5255	PHKA1	HP:0003596	Middle age onset
5255	PHKA1	HP:0003546	Exercise intolerance
5255	PHKA1	HP:0008305	Exercise-induced myoglobinuria
5255	PHKA1	HP:0003693	Distal amyotrophy
5255	PHKA1	HP:0001943	Hypoglycemia
5255	PHKA1	HP:0009051	Increased muscle glycogen content
5255	PHKA1	HP:0003236	Elevated circulating creatine kinase concentration
5255	PHKA1	HP:0003202	Skeletal muscle atrophy
5255	PHKA1	HP:0030231	Glycogen accumulation in muscle fiber lysosomes
5256	PHKA2	HP:0410175	Hyperketonemia
5256	PHKA2	HP:0001270	Motor delay
5256	PHKA2	HP:0001252	Hypotonia
5256	PHKA2	HP:0001249	Intellectual disability
5256	PHKA2	HP:0001263	Global developmental delay
5256	PHKA2	HP:0001397	Hepatic steatosis
5256	PHKA2	HP:0001396	Cholestasis
5256	PHKA2	HP:0001395	Hepatic fibrosis
5256	PHKA2	HP:0001394	Cirrhosis
5256	PHKA2	HP:0012028	Hepatocellular adenoma
5256	PHKA2	HP:0000147	Polycystic ovaries
5256	PHKA2	HP:0001419	X-linked recessive inheritance
5256	PHKA2	HP:0002719	Recurrent infections
5256	PHKA2	HP:0002018	Nausea
5256	PHKA2	HP:0003326	Myalgia
5256	PHKA2	HP:0002014	Diarrhea
5256	PHKA2	HP:0002013	Vomiting
5256	PHKA2	HP:0003323	Progressive muscle weakness
5256	PHKA2	HP:0003394	Muscle spasm
5256	PHKA2	HP:0002040	Esophageal varix
5256	PHKA2	HP:0002155	Hypertriglyceridemia
5256	PHKA2	HP:0002149	Hyperuricemia
5256	PHKA2	HP:0002194	Delayed gross motor development
5256	PHKA2	HP:0003593	Infantile onset
5256	PHKA2	HP:0002240	Hepatomegaly
5256	PHKA2	HP:0003546	Exercise intolerance
5256	PHKA2	HP:0002360	Sleep disturbance
5256	PHKA2	HP:0100607	Dysmenorrhea
5256	PHKA2	HP:0003621	Juvenile onset
5256	PHKA2	HP:0001947	Renal tubular acidosis
5256	PHKA2	HP:0001943	Hypoglycemia
5256	PHKA2	HP:0001946	Ketosis
5256	PHKA2	HP:0001903	Anemia
5256	PHKA2	HP:0004324	Increased body weight
5256	PHKA2	HP:0004322	Short stature
5256	PHKA2	HP:0000750	Delayed speech and language development
5256	PHKA2	HP:0011463	Childhood onset
5256	PHKA2	HP:0003124	Hypercholesterolemia
5256	PHKA2	HP:0003162	Fasting hypoglycemia
5256	PHKA2	HP:0003128	Lactic acidosis
5256	PHKA2	HP:0000876	Oligomenorrhea
5256	PHKA2	HP:0000858	Irregular menstruation
5256	PHKA2	HP:0000823	Delayed puberty
5256	PHKA2	HP:0003236	Elevated circulating creatine kinase concentration
5256	PHKA2	HP:0003202	Skeletal muscle atrophy
5256	PHKA2	HP:0000939	Osteoporosis
5256	PHKA2	HP:0001508	Failure to thrive
5256	PHKA2	HP:0001510	Growth delay
5256	PHKA2	HP:0012378	Fatigue
5256	PHKA2	HP:0012379	Abnormal circulating enzyme concentration or activity
5256	PHKA2	HP:0006580	Portal fibrosis
5256	PHKA2	HP:0002913	Myoglobinuria
5256	PHKA2	HP:0002910	Elevated hepatic transaminase
5256	PHKA2	HP:0001638	Cardiomyopathy
5256	PHKA2	HP:0030232	Increased sarcoplasmic glycogen
5256	PHKA2	HP:0030272	Abnormal erythrocyte enzyme level
5256	PHKA2	HP:0001744	Splenomegaly
5257	PHKB	HP:0003749	Pelvic girdle muscle weakness
5257	PHKB	HP:0001252	Hypotonia
5257	PHKB	HP:0001395	Hepatic fibrosis
5257	PHKB	HP:0001394	Cirrhosis
5257	PHKB	HP:0012028	Hepatocellular adenoma
5257	PHKB	HP:0008897	Postnatal growth retardation
5257	PHKB	HP:0001324	Muscle weakness
5257	PHKB	HP:0000007	Autosomal recessive inheritance
5257	PHKB	HP:0000147	Polycystic ovaries
5257	PHKB	HP:0001402	Hepatocellular carcinoma
5257	PHKB	HP:0002719	Recurrent infections
5257	PHKB	HP:0002018	Nausea
5257	PHKB	HP:0003325	Limb-girdle muscle weakness
5257	PHKB	HP:0003326	Myalgia
5257	PHKB	HP:0002014	Diarrhea
5257	PHKB	HP:0002013	Vomiting
5257	PHKB	HP:0003323	Progressive muscle weakness
5257	PHKB	HP:0003394	Muscle spasm
5257	PHKB	HP:0002155	Hypertriglyceridemia
5257	PHKB	HP:0002149	Hyperuricemia
5257	PHKB	HP:0002194	Delayed gross motor development
5257	PHKB	HP:0003593	Infantile onset
5257	PHKB	HP:0002240	Hepatomegaly
5257	PHKB	HP:0003546	Exercise intolerance
5257	PHKB	HP:0100607	Dysmenorrhea
5257	PHKB	HP:0001947	Renal tubular acidosis
5257	PHKB	HP:0001943	Hypoglycemia
5257	PHKB	HP:0001903	Anemia
5257	PHKB	HP:0009051	Increased muscle glycogen content
5257	PHKB	HP:0011342	Mild global developmental delay
5257	PHKB	HP:0001988	Recurrent hypoglycemia
5257	PHKB	HP:0004324	Increased body weight
5257	PHKB	HP:0004322	Short stature
5257	PHKB	HP:0012734	Ketotic hypoglycemia
5257	PHKB	HP:0000750	Delayed speech and language development
5257	PHKB	HP:0011463	Childhood onset
5257	PHKB	HP:0003124	Hypercholesterolemia
5257	PHKB	HP:0003162	Fasting hypoglycemia
5257	PHKB	HP:0003128	Lactic acidosis
5257	PHKB	HP:0000876	Oligomenorrhea
5257	PHKB	HP:0000858	Irregular menstruation
5257	PHKB	HP:0003236	Elevated circulating creatine kinase concentration
5257	PHKB	HP:0003202	Skeletal muscle atrophy
5257	PHKB	HP:0003201	Rhabdomyolysis
5257	PHKB	HP:0000939	Osteoporosis
5257	PHKB	HP:0001510	Growth delay
5257	PHKB	HP:0012378	Fatigue
5257	PHKB	HP:0012379	Abnormal circulating enzyme concentration or activity
5257	PHKB	HP:0006568	Increased hepatic glycogen content
5257	PHKB	HP:0002913	Myoglobinuria
5257	PHKB	HP:0002910	Elevated hepatic transaminase
5257	PHKB	HP:0001744	Splenomegaly
5261	PHKG2	HP:0410175	Hyperketonemia
5261	PHKG2	HP:0001270	Motor delay
5261	PHKG2	HP:0001252	Hypotonia
5261	PHKG2	HP:0001249	Intellectual disability
5261	PHKG2	HP:0001263	Global developmental delay
5261	PHKG2	HP:0001397	Hepatic steatosis
5261	PHKG2	HP:0001396	Cholestasis
5261	PHKG2	HP:0001395	Hepatic fibrosis
5261	PHKG2	HP:0001394	Cirrhosis
5261	PHKG2	HP:0012028	Hepatocellular adenoma
5261	PHKG2	HP:0008897	Postnatal growth retardation
5261	PHKG2	HP:0000007	Autosomal recessive inheritance
5261	PHKG2	HP:0000147	Polycystic ovaries
5261	PHKG2	HP:0001408	Bile duct proliferation
5261	PHKG2	HP:0002719	Recurrent infections
5261	PHKG2	HP:0002018	Nausea
5261	PHKG2	HP:0003326	Myalgia
5261	PHKG2	HP:0002014	Diarrhea
5261	PHKG2	HP:0002013	Vomiting
5261	PHKG2	HP:0003323	Progressive muscle weakness
5261	PHKG2	HP:0003394	Muscle spasm
5261	PHKG2	HP:0002040	Esophageal varix
5261	PHKG2	HP:0002155	Hypertriglyceridemia
5261	PHKG2	HP:0002151	Increased serum lactate
5261	PHKG2	HP:0002194	Delayed gross motor development
5261	PHKG2	HP:0003593	Infantile onset
5261	PHKG2	HP:0002240	Hepatomegaly
5261	PHKG2	HP:0003546	Exercise intolerance
5261	PHKG2	HP:0002360	Sleep disturbance
5261	PHKG2	HP:0100607	Dysmenorrhea
5261	PHKG2	HP:0003621	Juvenile onset
5261	PHKG2	HP:0001947	Renal tubular acidosis
5261	PHKG2	HP:0001943	Hypoglycemia
5261	PHKG2	HP:0001946	Ketosis
5261	PHKG2	HP:0001903	Anemia
5261	PHKG2	HP:0004324	Increased body weight
5261	PHKG2	HP:0004322	Short stature
5261	PHKG2	HP:0000750	Delayed speech and language development
5261	PHKG2	HP:0011463	Childhood onset
5261	PHKG2	HP:0003124	Hypercholesterolemia
5261	PHKG2	HP:0003162	Fasting hypoglycemia
5261	PHKG2	HP:0003128	Lactic acidosis
5261	PHKG2	HP:0000876	Oligomenorrhea
5261	PHKG2	HP:0000858	Irregular menstruation
5261	PHKG2	HP:0000823	Delayed puberty
5261	PHKG2	HP:0003236	Elevated circulating creatine kinase concentration
5261	PHKG2	HP:0003202	Skeletal muscle atrophy
5261	PHKG2	HP:0000939	Osteoporosis
5261	PHKG2	HP:0001508	Failure to thrive
5261	PHKG2	HP:0001510	Growth delay
5261	PHKG2	HP:0012378	Fatigue
5261	PHKG2	HP:0012379	Abnormal circulating enzyme concentration or activity
5261	PHKG2	HP:0006580	Portal fibrosis
5261	PHKG2	HP:0006568	Increased hepatic glycogen content
5261	PHKG2	HP:0002913	Myoglobinuria
5261	PHKG2	HP:0002910	Elevated hepatic transaminase
5261	PHKG2	HP:0001638	Cardiomyopathy
5261	PHKG2	HP:0030232	Increased sarcoplasmic glycogen
5261	PHKG2	HP:0030272	Abnormal erythrocyte enzyme level
5261	PHKG2	HP:0001744	Splenomegaly
5264	PHYH	HP:0007256	Abnormal pyramidal sign
5264	PHYH	HP:0010864	Intellectual disability, severe
5264	PHYH	HP:0001252	Hypotonia
5264	PHYH	HP:0001251	Ataxia
5264	PHYH	HP:0001265	Hyporeflexia
5264	PHYH	HP:0000083	Renal insufficiency
5264	PHYH	HP:0002654	Multiple epiphyseal dysplasia
5264	PHYH	HP:0000007	Autosomal recessive inheritance
5264	PHYH	HP:0002652	Skeletal dysplasia
5264	PHYH	HP:0004689	Short fourth metatarsal
5264	PHYH	HP:0002093	Respiratory insufficiency
5264	PHYH	HP:0005930	Abnormal epiphysis morphology
5264	PHYH	HP:0003474	Somatic sensory dysfunction
5264	PHYH	HP:0002164	Nail dysplasia
5264	PHYH	HP:0010571	Elevated circulating phytanic acid concentration
5264	PHYH	HP:0003690	Limb muscle weakness
5264	PHYH	HP:0002376	Developmental regression
5264	PHYH	HP:0009830	Peripheral neuropathy
5264	PHYH	HP:0007141	Sensorimotor neuropathy
5264	PHYH	HP:0000639	Nystagmus
5264	PHYH	HP:0000616	Miosis
5264	PHYH	HP:0001939	Abnormality of metabolism/homeostasis
5264	PHYH	HP:0010049	Short metacarpal
5264	PHYH	HP:0000662	Nyctalopia
5264	PHYH	HP:0004374	Hemiplegia/hemiparesis
5264	PHYH	HP:0012722	Heart block
5264	PHYH	HP:0003202	Skeletal muscle atrophy
5264	PHYH	HP:4000163	Decreased phytanoyl-CoA hydroxylase activity
5264	PHYH	HP:0000958	Dry skin
5264	PHYH	HP:0008064	Ichthyosis
5264	PHYH	HP:0011675	Arrhythmia
5264	PHYH	HP:0007703	Abnormality of retinal pigmentation
5264	PHYH	HP:0012211	Abnormal renal physiology
5264	PHYH	HP:0002922	Increased CSF protein concentration
5264	PHYH	HP:0001640	Cardiomegaly
5264	PHYH	HP:0001635	Congestive heart failure
5264	PHYH	HP:0001638	Cardiomyopathy
5264	PHYH	HP:0000407	Sensorineural hearing impairment
5264	PHYH	HP:0000478	Abnormality of the eye
5264	PHYH	HP:0000496	Abnormality of eye movement
5264	PHYH	HP:0000488	Retinopathy
5264	PHYH	HP:0000458	Anosmia
5264	PHYH	HP:0001765	Hammertoe
5264	PHYH	HP:0001744	Splenomegaly
5264	PHYH	HP:0001760	Abnormal foot morphology
5264	PHYH	HP:0001761	Pes cavus
5264	PHYH	HP:0000518	Cataract
5264	PHYH	HP:0000510	Rod-cone dystrophy
5264	PHYH	HP:0000529	Progressive visual loss
5264	PHYH	HP:0000508	Ptosis
5264	PHYH	HP:0000505	Visual impairment
5264	PHYH	HP:0000504	Abnormality of vision
5264	PHYH	HP:0000568	Microphthalmia
5264	PHYH	HP:0000546	Retinal degeneration
5265	SERPINA1	HP:0032261	Nontuberculous mycobacterial pulmonary infection
5265	SERPINA1	HP:0033709	Increased sputum production
5265	SERPINA1	HP:0002570	Steatorrhea
5265	SERPINA1	HP:0032342	Reduced forced expiratory volume in one second
5265	SERPINA1	HP:0001399	Hepatic failure
5265	SERPINA1	HP:0001392	Abnormality of the liver
5265	SERPINA1	HP:0001394	Cirrhosis
5265	SERPINA1	HP:0000007	Autosomal recessive inheritance
5265	SERPINA1	HP:0012115	Hepatitis
5265	SERPINA1	HP:0000100	Nephrotic syndrome
5265	SERPINA1	HP:0001402	Hepatocellular carcinoma
5265	SERPINA1	HP:0002726	Recurrent Staphylococcus aureus infections
5265	SERPINA1	HP:0002724	Recurrent Aspergillus infections
5265	SERPINA1	HP:0002024	Malabsorption
5265	SERPINA1	HP:0002020	Gastroesophageal reflux
5265	SERPINA1	HP:0002035	Rectal prolapse
5265	SERPINA1	HP:0002099	Asthma
5265	SERPINA1	HP:0002097	Emphysema
5265	SERPINA1	HP:0002094	Dyspnea
5265	SERPINA1	HP:0100582	Nasal polyposis
5265	SERPINA1	HP:0002110	Bronchiectasis
5265	SERPINA1	HP:0002107	Pneumothorax
5265	SERPINA1	HP:0002105	Hemoptysis
5265	SERPINA1	HP:0002240	Hepatomegaly
5265	SERPINA1	HP:0002205	Recurrent respiratory infections
5265	SERPINA1	HP:0032025	Reduced serum alpha-1-antitrypsin
5265	SERPINA1	HP:0012735	Cough
5265	SERPINA1	HP:0000739	Anxiety
5265	SERPINA1	HP:0000716	Depression
5265	SERPINA1	HP:0000787	Nephrolithiasis
5265	SERPINA1	HP:0004401	Meconium ileus
5265	SERPINA1	HP:0004469	Chronic bronchitis
5265	SERPINA1	HP:0012873	Absent vas deferens
5265	SERPINA1	HP:0045082	Decreased body mass index
5265	SERPINA1	HP:0030828	Wheezing
5265	SERPINA1	HP:0000952	Jaundice
5265	SERPINA1	HP:0000939	Osteoporosis
5265	SERPINA1	HP:0000938	Osteopenia
5265	SERPINA1	HP:0012236	Elevated sweat chloride
5265	SERPINA1	HP:0000246	Sinusitis
5265	SERPINA1	HP:0001508	Failure to thrive
5265	SERPINA1	HP:0002842	Recurrent Burkholderia cepacia infections
5265	SERPINA1	HP:0006510	Chronic pulmonary obstruction
5265	SERPINA1	HP:0006536	Airway obstruction
5265	SERPINA1	HP:0002910	Elevated hepatic transaminase
5265	SERPINA1	HP:0000365	Hearing impairment
5265	SERPINA1	HP:0030169	Gastric varix
5265	SERPINA1	HP:0032967	Panacinar emphysema
5265	SERPINA1	HP:0005376	Recurrent Haemophilus influenzae infections
5265	SERPINA1	HP:0001738	Exocrine pancreatic insufficiency
5265	SERPINA1	HP:0001744	Splenomegaly
5265	SERPINA1	HP:0025708	Early young adult onset
5269	SERPINB6	HP:0000007	Autosomal recessive inheritance
5269	SERPINB6	HP:0001730	Progressive hearing impairment
5271	SERPINB8	HP:0000007	Autosomal recessive inheritance
5271	SERPINB8	HP:0003593	Infantile onset
5271	SERPINB8	HP:0025092	Epidermal acanthosis
5271	SERPINB8	HP:0000962	Hyperkeratosis
5271	SERPINB8	HP:0040189	Scaling skin
5274	SERPINI1	HP:0001298	Encephalopathy
5274	SERPINI1	HP:0001250	Seizure
5274	SERPINI1	HP:0001260	Dysarthria
5274	SERPINI1	HP:0002529	Neuronal loss in central nervous system
5274	SERPINI1	HP:0000006	Autosomal dominant inheritance
5274	SERPINI1	HP:0001336	Myoclonus
5274	SERPINI1	HP:0002071	Abnormality of extrapyramidal motor function
5274	SERPINI1	HP:0002059	Cerebral atrophy
5274	SERPINI1	HP:0002171	Gliosis
5274	SERPINI1	HP:0000639	Nystagmus
5274	SERPINI1	HP:0000651	Diplopia
5274	SERPINI1	HP:0000726	Dementia
5274	SERPINI1	HP:0002936	Distal sensory impairment
5277	PIGA	HP:0001169	Broad palm
5277	PIGA	HP:0001182	Tapered finger
5277	PIGA	HP:0025116	Fetal distress
5277	PIGA	HP:0003700	Generalized amyotrophy
5277	PIGA	HP:0001298	Encephalopathy
5277	PIGA	HP:0001297	Stroke
5277	PIGA	HP:0001272	Cerebellar atrophy
5277	PIGA	HP:0001254	Lethargy
5277	PIGA	HP:0001250	Seizure
5277	PIGA	HP:0001252	Hypotonia
5277	PIGA	HP:0001251	Ataxia
5277	PIGA	HP:0001263	Global developmental delay
5277	PIGA	HP:0001257	Spasticity
5277	PIGA	HP:0002574	Episodic abdominal pain
5277	PIGA	HP:0025271	Esophageal spasms
5277	PIGA	HP:0007361	Abnormal pons morphology
5277	PIGA	HP:0002521	Hypsarrhythmia
5277	PIGA	HP:0002529	Neuronal loss in central nervous system
5277	PIGA	HP:0002500	Abnormal cerebral white matter morphology
5277	PIGA	HP:0000083	Renal insufficiency
5277	PIGA	HP:0000081	Duplicated collecting system
5277	PIGA	HP:0000093	Proteinuria
5277	PIGA	HP:0001399	Hepatic failure
5277	PIGA	HP:0001394	Cirrhosis
5277	PIGA	HP:0000076	Vesicoureteral reflux
5277	PIGA	HP:0001371	Flexion contracture
5277	PIGA	HP:0000054	Micropenis
5277	PIGA	HP:0001348	Brisk reflexes
5277	PIGA	HP:0001347	Hyperreflexia
5277	PIGA	HP:0001357	Plagiocephaly
5277	PIGA	HP:0001331	Absent septum pellucidum
5277	PIGA	HP:0001341	Olfactory lobe agenesis
5277	PIGA	HP:0001344	Absent speech
5277	PIGA	HP:0001336	Myoclonus
5277	PIGA	HP:0002639	Budd-Chiari syndrome
5277	PIGA	HP:0002650	Scoliosis
5277	PIGA	HP:0001321	Cerebellar hypoplasia
5277	PIGA	HP:0002625	Deep venous thrombosis
5277	PIGA	HP:0000160	Narrow mouth
5277	PIGA	HP:0012132	Erythroid hyperplasia
5277	PIGA	HP:0025435	Increased circulating lactate dehydrogenase concentration
5277	PIGA	HP:0008936	Axial hypotonia
5277	PIGA	HP:0025406	Asthenia
5277	PIGA	HP:0001428	Somatic mutation
5277	PIGA	HP:0001419	X-linked recessive inheritance
5277	PIGA	HP:0001414	Microvesicular hepatic steatosis
5277	PIGA	HP:0001413	Micronodular cirrhosis
5277	PIGA	HP:0002714	Downturned corners of mouth
5277	PIGA	HP:0040303	Decreased serum iron
5277	PIGA	HP:0002015	Dysphagia
5277	PIGA	HP:0030903	Grasp reflex
5277	PIGA	HP:0002094	Dyspnea
5277	PIGA	HP:0002061	Lower limb spasticity
5277	PIGA	HP:0002078	Truncal ataxia
5277	PIGA	HP:0002079	Hypoplasia of the corpus callosum
5277	PIGA	HP:0003487	Babinski sign
5277	PIGA	HP:0002123	Generalized myoclonic seizure
5277	PIGA	HP:0002120	Cerebral cortical atrophy
5277	PIGA	HP:0002119	Ventriculomegaly
5277	PIGA	HP:0002133	Status epilepticus
5277	PIGA	HP:0002174	Postural tremor
5277	PIGA	HP:0002171	Gliosis
5277	PIGA	HP:0008282	Unconjugated hyperbilirubinemia
5277	PIGA	HP:0003593	Infantile onset
5277	PIGA	HP:0002240	Hepatomegaly
5277	PIGA	HP:0100704	Cerebral visual impairment
5277	PIGA	HP:0003581	Adult onset
5277	PIGA	HP:0002204	Pulmonary embolism
5277	PIGA	HP:0200134	Epileptic encephalopathy
5277	PIGA	HP:0100749	Chest pain
5277	PIGA	HP:0032043	Odynophagia
5277	PIGA	HP:0011951	Aspiration pneumonia
5277	PIGA	HP:0003517	Birth length greater than 97th percentile
5277	PIGA	HP:0004818	Paroxysmal nocturnal hemoglobinuria
5277	PIGA	HP:0001051	Seborrheic dermatitis
5277	PIGA	HP:0002376	Developmental regression
5277	PIGA	HP:0002315	Headache
5277	PIGA	HP:0001000	Abnormality of skin pigmentation
5277	PIGA	HP:0200034	Papule
5277	PIGA	HP:0003641	Hemoglobinuria
5277	PIGA	HP:0004936	Venous thrombosis
5277	PIGA	HP:0020181	Reduced haptoglobin level
5277	PIGA	HP:0007190	Neuronal loss in the cerebral cortex
5277	PIGA	HP:0032106	Conjunctival icterus
5277	PIGA	HP:0009085	Alveolar ridge overgrowth
5277	PIGA	HP:0006895	Lower limb hypertonia
5277	PIGA	HP:0012622	Chronic kidney disease
5277	PIGA	HP:0001956	Truncal obesity
5277	PIGA	HP:0001923	Reticulocytosis
5277	PIGA	HP:0001907	Thromboembolism
5277	PIGA	HP:0001903	Anemia
5277	PIGA	HP:0001919	Acute kidney injury
5277	PIGA	HP:0012675	Iron accumulation in brain
5277	PIGA	HP:0000684	Delayed eruption of teeth
5277	PIGA	HP:0000691	Microdontia
5277	PIGA	HP:0011330	Metopic synostosis
5277	PIGA	HP:0000687	Widely spaced teeth
5277	PIGA	HP:0001994	Renal Fanconi syndrome
5277	PIGA	HP:0004322	Short stature
5277	PIGA	HP:0006986	Upper limb spasticity
5277	PIGA	HP:0006956	Lateral ventricle dilatation
5277	PIGA	HP:0003076	Glycosuria
5277	PIGA	HP:0000802	Impotence
5277	PIGA	HP:0000707	Abnormality of the nervous system
5277	PIGA	HP:0011461	Fetal onset
5277	PIGA	HP:0003121	Limb joint contracture
5277	PIGA	HP:0004420	Arterial thrombosis
5277	PIGA	HP:0003155	Elevated circulating alkaline phosphatase concentration
5277	PIGA	HP:0003138	Increased blood urea nitrogen
5277	PIGA	HP:0000822	Hypertension
5277	PIGA	HP:0003202	Skeletal muscle atrophy
5277	PIGA	HP:0003273	Hip contracture
5277	PIGA	HP:0000952	Jaundice
5277	PIGA	HP:0008064	Ichthyosis
5277	PIGA	HP:0040194	Increased head circumference
5277	PIGA	HP:0000280	Coarse facial features
5277	PIGA	HP:0000256	Macrocephaly
5277	PIGA	HP:0000272	Malar flattening
5277	PIGA	HP:0000269	Prominent occiput
5277	PIGA	HP:0006380	Knee flexion contracture
5277	PIGA	HP:0000239	Large fontanelles
5277	PIGA	HP:0000252	Microcephaly
5277	PIGA	HP:0000248	Brachycephaly
5277	PIGA	HP:0001548	Overgrowth
5277	PIGA	HP:0002878	Respiratory failure
5277	PIGA	HP:0000218	High palate
5277	PIGA	HP:0000212	Gingival overgrowth
5277	PIGA	HP:0001561	Polyhydramnios
5277	PIGA	HP:0001522	Death in infancy
5277	PIGA	HP:0001541	Ascites
5277	PIGA	HP:0031358	Vegetative state
5277	PIGA	HP:0000207	Triangular mouth
5277	PIGA	HP:0000201	Pierre-Robin sequence
5277	PIGA	HP:0001520	Large for gestational age
5277	PIGA	HP:0000396	Overfolded helix
5277	PIGA	HP:0005257	Thoracic hypoplasia
5277	PIGA	HP:0000365	Hearing impairment
5277	PIGA	HP:0000347	Micrognathia
5277	PIGA	HP:0000316	Hypertelorism
5277	PIGA	HP:0001643	Patent ductus arteriosus
5277	PIGA	HP:0001658	Myocardial infarction
5277	PIGA	HP:0002987	Elbow flexion contracture
5277	PIGA	HP:0001623	Breech presentation
5277	PIGA	HP:0001631	Atrial septal defect
5277	PIGA	HP:0005280	Depressed nasal bridge
5277	PIGA	HP:0012469	Infantile spasms
5277	PIGA	HP:0011129	Bilateral fetal pyelectasis
5277	PIGA	HP:0012465	Elevated hepatic iron concentration
5277	PIGA	HP:0001792	Small nail
5277	PIGA	HP:0000463	Anteverted nares
5277	PIGA	HP:0012448	Delayed myelination
5277	PIGA	HP:0011121	Abnormality of skin morphology
5277	PIGA	HP:0001789	Hydrops fetalis
5277	PIGA	HP:0030248	Mesenteric venous thrombosis
5277	PIGA	HP:0000470	Short neck
5277	PIGA	HP:0030272	Abnormal erythrocyte enzyme level
5277	PIGA	HP:0001744	Splenomegaly
5277	PIGA	HP:0005484	Secondary microcephaly
5277	PIGA	HP:0000582	Upslanted palpebral fissure
5277	PIGA	HP:0012543	Hemosiderinuria
5277	PIGA	HP:0001882	Leukopenia
5277	PIGA	HP:0001878	Hemolytic anemia
5277	PIGA	HP:0001873	Thrombocytopenia
5277	PIGA	HP:0001876	Pancytopenia
5279	PIGC	HP:0002465	Poor speech
5279	PIGC	HP:0001250	Seizure
5279	PIGC	HP:0001249	Intellectual disability
5279	PIGC	HP:0001263	Global developmental delay
5279	PIGC	HP:0000007	Autosomal recessive inheritance
5279	PIGC	HP:0031936	Delayed ability to walk
5279	PIGC	HP:0003155	Elevated circulating alkaline phosphatase concentration
5281	PIGF	HP:0010864	Intellectual disability, severe
5281	PIGF	HP:0009882	Short distal phalanx of finger
5281	PIGF	HP:0002421	Poor head control
5281	PIGF	HP:0001263	Global developmental delay
5281	PIGF	HP:0031061	Impaired toileting ability
5281	PIGF	HP:0001344	Absent speech
5281	PIGF	HP:0000007	Autosomal recessive inheritance
5281	PIGF	HP:0000194	Open mouth
5281	PIGF	HP:0012168	Head-banging
5281	PIGF	HP:0000160	Narrow mouth
5281	PIGF	HP:0002069	Bilateral tonic-clonic seizure
5281	PIGF	HP:0003577	Congenital onset
5281	PIGF	HP:0200105	Absent fifth toenail
5281	PIGF	HP:0008398	Hypoplastic fifth fingernail
5281	PIGF	HP:0000696	Delayed eruption of permanent teeth
5281	PIGF	HP:0000691	Microdontia
5281	PIGF	HP:0004379	Abnormality of alkaline phosphatase level
5281	PIGF	HP:0005707	Bilateral triphalangeal thumbs
5281	PIGF	HP:0003196	Short nose
5281	PIGF	HP:0000826	Precocious puberty
5281	PIGF	HP:0000280	Coarse facial features
5281	PIGF	HP:0000252	Microcephaly
5281	PIGF	HP:0000347	Micrognathia
5281	PIGF	HP:0001631	Atrial septal defect
5281	PIGF	HP:0000463	Anteverted nares
5281	PIGF	HP:0001857	Short distal phalanx of toe
5281	PIGF	HP:0001804	Hypoplastic fingernail
5281	PIGF	HP:0001800	Hypoplastic toenails
5281	PIGF	HP:0012553	Hypoplastic thumbnail
5283	PIGH	HP:0002465	Poor speech
5283	PIGH	HP:0001290	Generalized hypotonia
5283	PIGH	HP:0001250	Seizure
5283	PIGH	HP:0001263	Global developmental delay
5283	PIGH	HP:0003828	Variable expressivity
5283	PIGH	HP:0001328	Specific learning disability
5283	PIGH	HP:0000007	Autosomal recessive inheritance
5283	PIGH	HP:0002155	Hypertriglyceridemia
5283	PIGH	HP:0004209	Clinodactyly of the 5th finger
5283	PIGH	HP:0006989	Dysplastic corpus callosum
5283	PIGH	HP:0004379	Abnormality of alkaline phosphatase level
5283	PIGH	HP:0100025	Overfriendliness
5283	PIGH	HP:0000718	Aggressive behavior
5283	PIGH	HP:0011451	Primary microcephaly
5283	PIGH	HP:0000218	High palate
5283	PIGH	HP:0001510	Growth delay
5283	PIGH	HP:0031703	Abnormal ear morphology
5283	PIGH	HP:0001864	Clinodactyly of the 5th toe
5286	PIK3C2A	HP:0009928	Thick nasal alae
5286	PIK3C2A	HP:0001297	Stroke
5286	PIK3C2A	HP:0001263	Global developmental delay
5286	PIK3C2A	HP:0100864	Short femoral neck
5286	PIK3C2A	HP:0032325	Lacunar stroke
5286	PIK3C2A	HP:0000028	Cryptorchidism
5286	PIK3C2A	HP:0001328	Specific learning disability
5286	PIK3C2A	HP:0000007	Autosomal recessive inheritance
5286	PIK3C2A	HP:0002650	Scoliosis
5286	PIK3C2A	HP:0000164	Abnormality of the dentition
5286	PIK3C2A	HP:0000158	Macroglossia
5286	PIK3C2A	HP:0006297	Enamel hypoplasia
5286	PIK3C2A	HP:0000121	Nephrocalcinosis
5286	PIK3C2A	HP:0000104	Renal agenesis
5286	PIK3C2A	HP:0002750	Delayed skeletal maturation
5286	PIK3C2A	HP:0003307	Hyperlordosis
5286	PIK3C2A	HP:0008155	Mucopolysacchariduria
5286	PIK3C2A	HP:0002150	Hypercalciuria
5286	PIK3C2A	HP:0002162	Low posterior hairline
5286	PIK3C2A	HP:0002243	Protein-losing enteropathy
5286	PIK3C2A	HP:0002240	Hepatomegaly
5286	PIK3C2A	HP:0007042	Focal white matter lesions
5286	PIK3C2A	HP:0010663	Abnormality of thalamus morphology
5286	PIK3C2A	HP:0010761	Broad columella
5286	PIK3C2A	HP:0002300	Mutism
5286	PIK3C2A	HP:0000677	Oligodontia
5286	PIK3C2A	HP:0000691	Microdontia
5286	PIK3C2A	HP:0001999	Abnormal facial shape
5286	PIK3C2A	HP:0006989	Dysplastic corpus callosum
5286	PIK3C2A	HP:0004322	Short stature
5286	PIK3C2A	HP:0003072	Hypercalcemia
5286	PIK3C2A	HP:0000766	Abnormal sternum morphology
5286	PIK3C2A	HP:0012758	Neurodevelopmental delay
5286	PIK3C2A	HP:0003090	Hypoplasia of the capital femoral epiphysis
5286	PIK3C2A	HP:0000821	Hypothyroidism
5286	PIK3C2A	HP:0009237	Short 5th finger
5286	PIK3C2A	HP:0100255	Metaphyseal dysplasia
5286	PIK3C2A	HP:0000286	Epicanthus
5286	PIK3C2A	HP:0000280	Coarse facial features
5286	PIK3C2A	HP:0000278	Retrognathia
5286	PIK3C2A	HP:0000294	Low anterior hairline
5286	PIK3C2A	HP:0030084	Clinodactyly
5286	PIK3C2A	HP:0001518	Small for gestational age
5286	PIK3C2A	HP:0005257	Thoracic hypoplasia
5286	PIK3C2A	HP:0002942	Thoracic kyphosis
5286	PIK3C2A	HP:0002901	Hypocalcemia
5286	PIK3C2A	HP:0000365	Hearing impairment
5286	PIK3C2A	HP:0011020	Abnormality of mucopolysaccharide metabolism
5286	PIK3C2A	HP:0002987	Elbow flexion contracture
5286	PIK3C2A	HP:0000407	Sensorineural hearing impairment
5286	PIK3C2A	HP:0000405	Conductive hearing impairment
5286	PIK3C2A	HP:0005280	Depressed nasal bridge
5286	PIK3C2A	HP:0001744	Splenomegaly
5286	PIK3C2A	HP:0000431	Wide nasal bridge
5286	PIK3C2A	HP:0000519	Developmental cataract
5286	PIK3C2A	HP:0000501	Glaucoma
5286	PIK3C2A	HP:0000599	Abnormality of the frontal hairline
5290	PIK3CA	HP:0001156	Brachydactyly
5290	PIK3CA	HP:0001161	Hand polydactyly
5290	PIK3CA	HP:0001159	Syndactyly
5290	PIK3CA	HP:0025104	Capillary malformation
5290	PIK3CA	HP:0001123	Visual field defect
5290	PIK3CA	HP:0007256	Abnormal pyramidal sign
5290	PIK3CA	HP:0010864	Intellectual disability, severe
5290	PIK3CA	HP:0008551	Microtia
5290	PIK3CA	HP:0010851	EEG with burst suppression
5290	PIK3CA	HP:0003745	Sporadic
5290	PIK3CA	HP:0003764	Nevus
5290	PIK3CA	HP:0001102	Angioid streaks of the fundus
5290	PIK3CA	HP:0033522	Cerebral cavernous malformation
5290	PIK3CA	HP:0001290	Generalized hypotonia
5290	PIK3CA	HP:0001276	Hypertonia
5290	PIK3CA	HP:0001269	Hemiparesis
5290	PIK3CA	HP:0001288	Gait disturbance
5290	PIK3CA	HP:0100835	Benign neoplasm of the central nervous system
5290	PIK3CA	HP:0001279	Syncope
5290	PIK3CA	HP:0001256	Intellectual disability, mild
5290	PIK3CA	HP:0001250	Seizure
5290	PIK3CA	HP:0001252	Hypotonia
5290	PIK3CA	HP:0001251	Ataxia
5290	PIK3CA	HP:0001249	Intellectual disability
5290	PIK3CA	HP:0001260	Dysarthria
5290	PIK3CA	HP:0001263	Global developmental delay
5290	PIK3CA	HP:0001262	Excessive daytime somnolence
5290	PIK3CA	HP:0006101	Finger syndactyly
5290	PIK3CA	HP:0007360	Aplasia/Hypoplasia of the cerebellum
5290	PIK3CA	HP:0010997	Chromosomal breakage induced by ionizing radiation
5290	PIK3CA	HP:0007359	Focal-onset seizure
5290	PIK3CA	HP:0007340	Lower limb muscle weakness
5290	PIK3CA	HP:0008675	Enlarged polycystic ovaries
5290	PIK3CA	HP:0002516	Increased intracranial pressure
5290	PIK3CA	HP:0002512	Brain stem compression
5290	PIK3CA	HP:0000089	Renal hypoplasia
5290	PIK3CA	HP:0025373	Interictal EEG abnormality
5290	PIK3CA	HP:0012062	Bone cyst
5290	PIK3CA	HP:0000077	Abnormality of the kidney
5290	PIK3CA	HP:0025352	Typically de novo
5290	PIK3CA	HP:0000044	Hypogonadotropic hypogonadism
5290	PIK3CA	HP:0001371	Flexion contracture
5290	PIK3CA	HP:0012032	Lipoma
5290	PIK3CA	HP:0000036	Abnormal penis morphology
5290	PIK3CA	HP:0001388	Joint laxity
5290	PIK3CA	HP:0001355	Megalencephaly
5290	PIK3CA	HP:0000020	Urinary incontinence
5290	PIK3CA	HP:0000034	Hydrocele testis
5290	PIK3CA	HP:0007565	Multiple cafe-au-lait spots
5290	PIK3CA	HP:0002664	Neoplasm
5290	PIK3CA	HP:0001342	Cerebral hemorrhage
5290	PIK3CA	HP:0002671	Basal cell carcinoma
5290	PIK3CA	HP:0002667	Nephroblastoma
5290	PIK3CA	HP:0000006	Autosomal dominant inheritance
5290	PIK3CA	HP:0001336	Myoclonus
5290	PIK3CA	HP:0002637	Cerebral ischemia
5290	PIK3CA	HP:0001302	Pachygyria
5290	PIK3CA	HP:0002650	Scoliosis
5290	PIK3CA	HP:0001317	Abnormal cerebellum morphology
5290	PIK3CA	HP:0002619	Varicose veins
5290	PIK3CA	HP:0002624	Abnormal venous morphology
5290	PIK3CA	HP:0012174	Glioblastoma multiforme
5290	PIK3CA	HP:0000160	Narrow mouth
5290	PIK3CA	HP:0000158	Macroglossia
5290	PIK3CA	HP:0000141	Amenorrhea
5290	PIK3CA	HP:0012126	Stomach cancer
5290	PIK3CA	HP:0000138	Ovarian cyst
5290	PIK3CA	HP:0000154	Wide mouth
5290	PIK3CA	HP:0001482	Subcutaneous nodule
5290	PIK3CA	HP:0012114	Endometrial carcinoma
5290	PIK3CA	HP:0410067	Increased level of L-fucose in urine
5290	PIK3CA	HP:0031287	Seborrheic keratosis
5290	PIK3CA	HP:0000130	Abnormality of the uterus
5290	PIK3CA	HP:0001428	Somatic mutation
5290	PIK3CA	HP:0001442	Somatic mosaicism
5290	PIK3CA	HP:0000105	Enlarged kidney
5290	PIK3CA	HP:0001402	Hepatocellular carcinoma
5290	PIK3CA	HP:0001413	Micronodular cirrhosis
5290	PIK3CA	HP:0002024	Malabsorption
5290	PIK3CA	HP:0002019	Constipation
5290	PIK3CA	HP:0002017	Nausea and vomiting
5290	PIK3CA	HP:0002027	Abdominal pain
5290	PIK3CA	HP:0002007	Frontal bossing
5290	PIK3CA	HP:0002080	Intention tremor
5290	PIK3CA	HP:0100543	Cognitive impairment
5290	PIK3CA	HP:0100555	Asymmetric growth
5290	PIK3CA	HP:0100559	Lower limb asymmetry
5290	PIK3CA	HP:0002076	Migraine
5290	PIK3CA	HP:0010442	Polydactyly
5290	PIK3CA	HP:0011752	Neoplasm of the posterior pituitary
5290	PIK3CA	HP:0011750	Neoplasm of the anterior pituitary
5290	PIK3CA	HP:0100571	Cardiac diverticulum
5290	PIK3CA	HP:0011730	Abnormal central sensory function
5290	PIK3CA	HP:0100585	Telangiectasia of the skin
5290	PIK3CA	HP:0100578	Lipoatrophy
5290	PIK3CA	HP:0100579	Mucosal telangiectasiae
5290	PIK3CA	HP:0100576	Amaurosis fugax
5290	PIK3CA	HP:0008163	Decreased circulating cortisol level
5290	PIK3CA	HP:0002144	Tethered cord
5290	PIK3CA	HP:0003484	Upper limb muscle weakness
5290	PIK3CA	HP:0002119	Ventriculomegaly
5290	PIK3CA	HP:0002133	Status epilepticus
5290	PIK3CA	HP:0002126	Polymicrogyria
5290	PIK3CA	HP:0003418	Back pain
5290	PIK3CA	HP:0010609	Skin tags
5290	PIK3CA	HP:0002167	Abnormality of speech or vocalization
5290	PIK3CA	HP:0002171	Gliosis
5290	PIK3CA	HP:0008240	Secondary growth hormone deficiency
5290	PIK3CA	HP:0008245	Pituitary hypothyroidism
5290	PIK3CA	HP:0008237	Hypothalamic hypothyroidism
5290	PIK3CA	HP:0010534	Transient global amnesia
5290	PIK3CA	HP:0010526	Dysgraphia
5290	PIK3CA	HP:0010524	Agnosia
5290	PIK3CA	HP:0008214	Decreased serum estradiol
5290	PIK3CA	HP:0008202	Reduced circulating prolactin concentration
5290	PIK3CA	HP:0003401	Paresthesia
5290	PIK3CA	HP:0003577	Congenital onset
5290	PIK3CA	HP:0002239	Gastrointestinal hemorrhage
5290	PIK3CA	HP:0002253	Colonic diverticula
5290	PIK3CA	HP:0003581	Adult onset
5290	PIK3CA	HP:0100763	Abnormality of the lymphatic system
5290	PIK3CA	HP:0009748	Large earlobe
5290	PIK3CA	HP:0010714	2-4 toe syndactyly
5290	PIK3CA	HP:0100780	Conjunctival hamartoma
5290	PIK3CA	HP:0100790	Hernia
5290	PIK3CA	HP:0009720	Adenoma sebaceum
5290	PIK3CA	HP:0002282	Gray matter heterotopia
5290	PIK3CA	HP:0100743	Neoplasm of the rectum
5290	PIK3CA	HP:0100761	Visceral angiomatosis
5290	PIK3CA	HP:0007018	Attention deficit hyperactivity disorder
5290	PIK3CA	HP:0032046	Focal cortical dysplasia
5290	PIK3CA	HP:0010628	Facial palsy
5290	PIK3CA	HP:0010622	Neoplasm of the skeletal system
5290	PIK3CA	HP:0010614	Fibroma
5290	PIK3CA	HP:0002389	Cavum septum pellucidum
5290	PIK3CA	HP:0001052	Nevus flammeus
5290	PIK3CA	HP:0001051	Seborrheic dermatitis
5290	PIK3CA	HP:0001054	Numerous nevi
5290	PIK3CA	HP:0001053	Hypopigmented skin patches
5290	PIK3CA	HP:0001048	Cavernous hemangioma
5290	PIK3CA	HP:0001067	Neurofibromas
5290	PIK3CA	HP:0002392	EEG with polyspike wave complexes
5290	PIK3CA	HP:0001034	Hypermelanotic macule
5290	PIK3CA	HP:0001031	Subcutaneous lipoma
5290	PIK3CA	HP:0002376	Developmental regression
5290	PIK3CA	HP:0001012	Multiple lipomas
5290	PIK3CA	HP:0001004	Lymphedema
5290	PIK3CA	HP:0002355	Difficulty walking
5290	PIK3CA	HP:0002354	Memory impairment
5290	PIK3CA	HP:0002315	Headache
5290	PIK3CA	HP:0100648	Neoplasm of the tongue
5290	PIK3CA	HP:0100646	Thyroiditis
5290	PIK3CA	HP:0007206	Hemimegalencephaly
5290	PIK3CA	HP:0100660	Dyskinesia
5290	PIK3CA	HP:0100661	Trigeminal neuralgia
5290	PIK3CA	HP:0100659	Abnormal cerebral vascular morphology
5290	PIK3CA	HP:0200034	Papule
5290	PIK3CA	HP:0010828	Hemifacial spasm
5290	PIK3CA	HP:0010816	Epidermal nevus
5290	PIK3CA	HP:0200008	Intestinal polyposis
5290	PIK3CA	HP:0010819	Atonic seizure
5290	PIK3CA	HP:0200063	Colorectal polyposis
5290	PIK3CA	HP:0100615	Ovarian neoplasm
5290	PIK3CA	HP:0100613	Death in early adulthood
5290	PIK3CA	HP:0100621	Dysgerminoma
5290	PIK3CA	HP:0001085	Papilledema
5290	PIK3CA	HP:0010786	Urinary tract neoplasm
5290	PIK3CA	HP:0002308	Chiari malformation
5290	PIK3CA	HP:0030521	Bitemporal hemianopia
5290	PIK3CA	HP:0006824	Cranial nerve paralysis
5290	PIK3CA	HP:0030532	Visual acuity test abnormality
5290	PIK3CA	HP:0005595	Generalized hyperkeratosis
5290	PIK3CA	HP:0005584	Renal cell carcinoma
5290	PIK3CA	HP:0000648	Optic atrophy
5290	PIK3CA	HP:0000618	Blindness
5290	PIK3CA	HP:0000602	Ophthalmoplegia
5290	PIK3CA	HP:0001909	Leukemia
5290	PIK3CA	HP:0012691	Focal T2 hypointense thalamic lesion
5290	PIK3CA	HP:0012658	Abnormal brain FDG positron emission tomography
5290	PIK3CA	HP:0012639	Abnormal nervous system morphology
5290	PIK3CA	HP:0004322	Short stature
5290	PIK3CA	HP:0003002	Breast carcinoma
5290	PIK3CA	HP:0003003	Colon cancer
5290	PIK3CA	HP:0004302	Functional motor deficit
5290	PIK3CA	HP:0030680	Abnormality of cardiovascular system morphology
5290	PIK3CA	HP:0040009	Hyperparakeratosis
5290	PIK3CA	HP:0000802	Impotence
5290	PIK3CA	HP:0004390	Hamartomatous polyposis
5290	PIK3CA	HP:0005692	Joint hyperflexibility
5290	PIK3CA	HP:0004374	Hemiplegia/hemiparesis
5290	PIK3CA	HP:0003006	Neuroblastoma
5290	PIK3CA	HP:0100010	Spinal meningioma
5290	PIK3CA	HP:0100006	Neoplasm of the central nervous system
5290	PIK3CA	HP:0100009	Intracranial meningioma
5290	PIK3CA	HP:0000771	Gynecomastia
5290	PIK3CA	HP:0012733	Macule
5290	PIK3CA	HP:0012740	Papilloma
5290	PIK3CA	HP:0000767	Pectus excavatum
5290	PIK3CA	HP:0100031	Neoplasm of the thyroid gland
5290	PIK3CA	HP:0012721	Venous malformation
5290	PIK3CA	HP:0100026	Arteriovenous malformation
5290	PIK3CA	HP:0000738	Hallucinations
5290	PIK3CA	HP:0000737	Irritability
5290	PIK3CA	HP:0000739	Anxiety
5290	PIK3CA	HP:0000716	Depression
5290	PIK3CA	HP:0000717	Autism
5290	PIK3CA	HP:0000712	Emotional lability
5290	PIK3CA	HP:0000708	Atypical behavior
5290	PIK3CA	HP:0030591	Abnormal kinetic perimetry test
5290	PIK3CA	HP:0011442	Abnormal central motor function
5290	PIK3CA	HP:0012757	Abnormal neuron morphology
5290	PIK3CA	HP:0004437	Cranial hyperostosis
5290	PIK3CA	HP:0030766	Ear pain
5290	PIK3CA	HP:0004408	Abnormality of the sense of smell
5290	PIK3CA	HP:0000929	Abnormal skull morphology
5290	PIK3CA	HP:0004481	Progressive macrocephaly
5290	PIK3CA	HP:0000854	Thyroid adenoma
5290	PIK3CA	HP:0000853	Goiter
5290	PIK3CA	HP:0000870	Increased circulating prolactin concentration
5290	PIK3CA	HP:0000836	Hyperthyroidism
5290	PIK3CA	HP:0000821	Hypothyroidism
5290	PIK3CA	HP:0000820	Abnormality of the thyroid gland
5290	PIK3CA	HP:0012887	Ovarian serous cystadenoma
5290	PIK3CA	HP:0030878	Abnormality on pulmonary function testing
5290	PIK3CA	HP:0030890	Hyperintensity of cerebral white matter on MRI
5290	PIK3CA	HP:0045026	Abnormal mediastinum morphology
5290	PIK3CA	HP:0000995	Melanocytic nevus
5290	PIK3CA	HP:0010301	Spinal dysraphism
5290	PIK3CA	HP:0000972	Palmoplantar hyperkeratosis
5290	PIK3CA	HP:0000982	Palmoplantar keratoderma
5290	PIK3CA	HP:0000965	Cutis marmorata
5290	PIK3CA	HP:0040171	Decreased serum testosterone concentration
5290	PIK3CA	HP:0008069	Neoplasm of the skin
5290	PIK3CA	HP:0011675	Arrhythmia
5290	PIK3CA	HP:0007715	Weak extraocular muscles
5290	PIK3CA	HP:0012285	Abnormal hypothalamus physiology
5290	PIK3CA	HP:0000286	Epicanthus
5290	PIK3CA	HP:0000293	Full cheeks
5290	PIK3CA	HP:0012246	Oculomotor nerve palsy
5290	PIK3CA	HP:0000256	Macrocephaly
5290	PIK3CA	HP:0000267	Cranial asymmetry
5290	PIK3CA	HP:0030078	Lung adenocarcinoma
5290	PIK3CA	HP:0002808	Kyphosis
5290	PIK3CA	HP:0000238	Hydrocephalus
5290	PIK3CA	HP:0000221	Furrowed tongue
5290	PIK3CA	HP:0001548	Overgrowth
5290	PIK3CA	HP:0000218	High palate
5290	PIK3CA	HP:0002894	Neoplasm of the pancreas
5290	PIK3CA	HP:0002893	Pituitary adenoma
5290	PIK3CA	HP:0002891	Uterine leiomyosarcoma
5290	PIK3CA	HP:0002861	Melanoma
5290	PIK3CA	HP:0002858	Meningioma
5290	PIK3CA	HP:0001528	Hemihypertrophy
5290	PIK3CA	HP:0001522	Death in infancy
5290	PIK3CA	HP:0001508	Failure to thrive
5290	PIK3CA	HP:0001513	Obesity
5290	PIK3CA	HP:0011097	Epileptic spasm
5290	PIK3CA	HP:0012378	Fatigue
5290	PIK3CA	HP:0012377	Hemianopia
5290	PIK3CA	HP:0006572	Subacute progressive viral hepatitis
5290	PIK3CA	HP:0006519	Alveolar cell carcinoma
5290	PIK3CA	HP:0006520	Progressive pulmonary function impairment
5290	PIK3CA	HP:0002920	Decreased circulating ACTH level
5290	PIK3CA	HP:0000365	Hearing impairment
5290	PIK3CA	HP:0000360	Tinnitus
5290	PIK3CA	HP:0000337	Broad forehead
5290	PIK3CA	HP:0000348	High forehead
5290	PIK3CA	HP:0000347	Micrognathia
5290	PIK3CA	HP:0000319	Smooth philtrum
5290	PIK3CA	HP:0000316	Hypertelorism
5290	PIK3CA	HP:0000327	Hypoplasia of the maxilla
5290	PIK3CA	HP:0000324	Facial asymmetry
5290	PIK3CA	HP:0031487	Capillary malformation of the lip
5290	PIK3CA	HP:0001629	Ventricular septal defect
5290	PIK3CA	HP:0001626	Abnormality of the cardiovascular system
5290	PIK3CA	HP:0007924	Slow decrease in visual acuity
5290	PIK3CA	HP:0011195	EEG with focal sharp slow waves
5290	PIK3CA	HP:0011193	EEG with focal spikes
5290	PIK3CA	HP:0011167	Focal tonic seizure
5290	PIK3CA	HP:0011153	Focal motor seizure
5290	PIK3CA	HP:0005374	Cellular immunodeficiency
5290	PIK3CA	HP:0005280	Depressed nasal bridge
5290	PIK3CA	HP:0000494	Downslanted palpebral fissures
5290	PIK3CA	HP:0000490	Deeply set eye
5290	PIK3CA	HP:0011133	Increased sensitivity to ionizing radiation
5290	PIK3CA	HP:0000465	Webbed neck
5290	PIK3CA	HP:0001770	Toe syndactyly
5290	PIK3CA	HP:0001744	Splenomegaly
5290	PIK3CA	HP:0006753	Neoplasm of the stomach
5290	PIK3CA	HP:0006740	Transitional cell carcinoma of the bladder
5290	PIK3CA	HP:0006725	Pancreatic adenocarcinoma
5290	PIK3CA	HP:0006731	Follicular thyroid carcinoma
5290	PIK3CA	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
5290	PIK3CA	HP:0006774	Ovarian papillary adenocarcinoma
5290	PIK3CA	HP:0012505	Enlarged pituitary gland
5290	PIK3CA	HP:0000518	Cataract
5290	PIK3CA	HP:0001852	Sandal gap
5290	PIK3CA	HP:0000520	Proptosis
5290	PIK3CA	HP:0001829	Foot polydactyly
5290	PIK3CA	HP:0001824	Weight loss
5290	PIK3CA	HP:0000505	Visual impairment
5290	PIK3CA	HP:0004099	Macrodactyly
5290	PIK3CA	HP:0030344	Decreased circulating luteinizing hormone level
5290	PIK3CA	HP:0030341	Decreased circulating follicle stimulating hormone concentration
5290	PIK3CA	HP:0030358	Non-small cell lung carcinoma
5290	PIK3CA	HP:0011215	Hemihypsarrhythmia
5290	PIK3CA	HP:0000568	Microphthalmia
5290	PIK3CA	HP:0000545	Myopia
5293	PIK3CD	HP:0003765	Psoriasiform dermatitis
5293	PIK3CD	HP:0009891	Underdeveloped supraorbital ridges
5293	PIK3CD	HP:0002403	Positive Romberg sign
5293	PIK3CD	HP:0002583	Colitis
5293	PIK3CD	HP:0001251	Ataxia
5293	PIK3CD	HP:0001249	Intellectual disability
5293	PIK3CD	HP:0001263	Global developmental delay
5293	PIK3CD	HP:0010976	B lymphocytopenia
5293	PIK3CD	HP:0031014	Arteria lusoria
5293	PIK3CD	HP:0000086	Ectopic kidney
5293	PIK3CD	HP:0001369	Arthritis
5293	PIK3CD	HP:0000010	Recurrent urinary tract infections
5293	PIK3CD	HP:0000007	Autosomal recessive inheritance
5293	PIK3CD	HP:0000006	Autosomal dominant inheritance
5293	PIK3CD	HP:0001319	Neonatal hypotonia
5293	PIK3CD	HP:0002643	Neonatal respiratory distress
5293	PIK3CD	HP:0012178	Reduced natural killer cell activity
5293	PIK3CD	HP:0007678	Lacrimal duct stenosis
5293	PIK3CD	HP:0410018	Recurrent ear infections
5293	PIK3CD	HP:0000122	Unilateral renal agenesis
5293	PIK3CD	HP:0002718	Recurrent bacterial infections
5293	PIK3CD	HP:0002716	Lymphadenopathy
5293	PIK3CD	HP:0002720	Decreased circulating IgA level
5293	PIK3CD	HP:0002721	Immunodeficiency
5293	PIK3CD	HP:0002020	Gastroesophageal reflux
5293	PIK3CD	HP:0002037	Inflammation of the large intestine
5293	PIK3CD	HP:0002028	Chronic diarrhea
5293	PIK3CD	HP:0002014	Diarrhea
5293	PIK3CD	HP:0002007	Frontal bossing
5293	PIK3CD	HP:0003307	Hyperlordosis
5293	PIK3CD	HP:0100540	Palpebral edema
5293	PIK3CD	HP:0002080	Intention tremor
5293	PIK3CD	HP:0002090	Pneumonia
5293	PIK3CD	HP:0002058	Myopathic facies
5293	PIK3CD	HP:0040288	Nasogastric tube feeding
5293	PIK3CD	HP:0002123	Generalized myoclonic seizure
5293	PIK3CD	HP:0002119	Ventriculomegaly
5293	PIK3CD	HP:0003460	Decreased circulating total IgA
5293	PIK3CD	HP:0002100	Recurrent aspiration pneumonia
5293	PIK3CD	HP:0002110	Bronchiectasis
5293	PIK3CD	HP:0003496	Increased circulating IgM level
5293	PIK3CD	HP:0002162	Low posterior hairline
5293	PIK3CD	HP:0011897	Neutrophilia
5293	PIK3CD	HP:0010579	Cone-shaped epiphysis
5293	PIK3CD	HP:0003593	Infantile onset
5293	PIK3CD	HP:0002205	Recurrent respiratory infections
5293	PIK3CD	HP:0033351	Candida esophagitis
5293	PIK3CD	HP:0008348	Decreased circulating IgG2 level
5293	PIK3CD	HP:0009650	Short distal phalanx of the thumb
5293	PIK3CD	HP:0100660	Dyskinesia
5293	PIK3CD	HP:0100658	Cellulitis
5293	PIK3CD	HP:0009844	Broad middle phalanx of finger
5293	PIK3CD	HP:0032132	Decreased circulating total IgG
5293	PIK3CD	HP:0032140	Decreased specific antibody response to vaccination
5293	PIK3CD	HP:0010750	Dermatochalasis
5293	PIK3CD	HP:0010743	Short metatarsal
5293	PIK3CD	HP:0003621	Juvenile onset
5293	PIK3CD	HP:0009098	Chronic oral candidiasis
5293	PIK3CD	HP:0000648	Optic atrophy
5293	PIK3CD	HP:0001974	Leukocytosis
5293	PIK3CD	HP:0000609	Optic nerve hypoplasia
5293	PIK3CD	HP:0010049	Short metacarpal
5293	PIK3CD	HP:0001999	Abnormal facial shape
5293	PIK3CD	HP:0004315	Decreased circulating IgG level
5293	PIK3CD	HP:0004313	Decreased circulating antibody level
5293	PIK3CD	HP:0011463	Childhood onset
5293	PIK3CD	HP:0005764	Polyarticular arthritis
5293	PIK3CD	HP:0004429	Recurrent viral infections
5293	PIK3CD	HP:0004425	Flat forehead
5293	PIK3CD	HP:0000924	Abnormality of the skeletal system
5293	PIK3CD	HP:0040025	Clinodactyly of the 4th finger
5293	PIK3CD	HP:0010282	Thin lower lip vermilion
5293	PIK3CD	HP:0040022	Clinodactyly of the 2nd finger
5293	PIK3CD	HP:0040024	Clinodactyly of the 3rd finger
5293	PIK3CD	HP:0040218	Reduced natural killer cell count
5293	PIK3CD	HP:0000998	Hypertrichosis
5293	PIK3CD	HP:0000953	Hyperpigmentation of the skin
5293	PIK3CD	HP:0000938	Osteopenia
5293	PIK3CD	HP:0025540	Abnormal T cell subset distribution
5293	PIK3CD	HP:0001537	Umbilical hernia
5293	PIK3CD	HP:0002850	Decreased circulating total IgM
5293	PIK3CD	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
5293	PIK3CD	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3
5293	PIK3CD	HP:0002841	Recurrent fungal infections
5293	PIK3CD	HP:0006532	Recurrent pneumonia
5293	PIK3CD	HP:0000348	High forehead
5293	PIK3CD	HP:0012311	Monocytosis
5293	PIK3CD	HP:0000316	Hypertelorism
5293	PIK3CD	HP:0000306	Abnormality of the chin
5293	PIK3CD	HP:0006610	Wide intermamillary distance
5293	PIK3CD	HP:0005387	Combined immunodeficiency
5293	PIK3CD	HP:0005280	Depressed nasal bridge
5293	PIK3CD	HP:0012476	Decreased specific pneumococcal antibody level
5293	PIK3CD	HP:0000490	Deeply set eye
5293	PIK3CD	HP:0000463	Anteverted nares
5293	PIK3CD	HP:0000455	Broad nasal tip
5293	PIK3CD	HP:0000470	Short neck
5293	PIK3CD	HP:0011108	Recurrent sinusitis
5293	PIK3CD	HP:0000411	Protruding ear
5293	PIK3CD	HP:0001744	Splenomegaly
5293	PIK3CD	HP:0000431	Wide nasal bridge
5293	PIK3CD	HP:0001761	Pes cavus
5293	PIK3CD	HP:0005407	Decreased proportion of CD4-positive helper T cells
5293	PIK3CD	HP:0005425	Recurrent sinopulmonary infections
5293	PIK3CD	HP:0005403	T lymphocytopenia
5293	PIK3CD	HP:0001894	Thrombocytosis
5293	PIK3CD	HP:0030381	Increased proportion of transitional B cells
5293	PIK3CD	HP:0030388	Decreased proportion of class-switched memory B cells
5294	PIK3CG	HP:0032252	Granuloma
5294	PIK3CG	HP:0002583	Colitis
5294	PIK3CG	HP:0001252	Hypotonia
5294	PIK3CG	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells
5294	PIK3CG	HP:0000010	Recurrent urinary tract infections
5294	PIK3CG	HP:0000007	Autosomal recessive inheritance
5294	PIK3CG	HP:0012156	Hemophagocytosis
5294	PIK3CG	HP:0025435	Increased circulating lactate dehydrogenase concentration
5294	PIK3CG	HP:0001433	Hepatosplenomegaly
5294	PIK3CG	HP:0002716	Lymphadenopathy
5294	PIK3CG	HP:0002720	Decreased circulating IgA level
5294	PIK3CG	HP:0002027	Abdominal pain
5294	PIK3CG	HP:0002014	Diarrhea
5294	PIK3CG	HP:0002155	Hypertriglyceridemia
5294	PIK3CG	HP:0100721	Mediastinal lymphadenopathy
5294	PIK3CG	HP:0011945	Bronchiolitis obliterans organizing pneumonia
5294	PIK3CG	HP:0003651	Foam cells
5294	PIK3CG	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells
5294	PIK3CG	HP:0003621	Juvenile onset
5294	PIK3CG	HP:0001945	Fever
5294	PIK3CG	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
5294	PIK3CG	HP:0004315	Decreased circulating IgG level
5294	PIK3CG	HP:0004313	Decreased circulating antibody level
5294	PIK3CG	HP:0004387	Enterocolitis
5294	PIK3CG	HP:0040218	Reduced natural killer cell count
5294	PIK3CG	HP:0003281	Increased circulating ferritin concentration
5294	PIK3CG	HP:0000964	Eczema
5294	PIK3CG	HP:0001581	Recurrent skin infections
5294	PIK3CG	HP:0002850	Decreased circulating total IgM
5294	PIK3CG	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
5294	PIK3CG	HP:0012378	Fatigue
5294	PIK3CG	HP:0012312	Monocytopenia
5294	PIK3CG	HP:0000403	Recurrent otitis media
5294	PIK3CG	HP:0001742	Nasal congestion
5294	PIK3CG	HP:0001744	Splenomegaly
5294	PIK3CG	HP:0005425	Recurrent sinopulmonary infections
5294	PIK3CG	HP:0005415	Decreased proportion of CD8-positive T cells
5294	PIK3CG	HP:0001890	Autoimmune hemolytic anemia
5294	PIK3CG	HP:0001888	Lymphopenia
5294	PIK3CG	HP:0001880	Eosinophilia
5294	PIK3CG	HP:0001873	Thrombocytopenia
5295	PIK3R1	HP:0001156	Brachydactyly
5295	PIK3R1	HP:0032247	Persistent CMV viremia
5295	PIK3R1	HP:0008572	External ear malformation
5295	PIK3R1	HP:0100806	Sepsis
5295	PIK3R1	HP:0001287	Meningitis
5295	PIK3R1	HP:0001249	Intellectual disability
5295	PIK3R1	HP:0007392	Excessive wrinkled skin
5295	PIK3R1	HP:0410378	Decreased proportion of naive CD4 T cells
5295	PIK3R1	HP:0410377	Decreased proportion of naive CD8 T cells
5295	PIK3R1	HP:0010976	B lymphocytopenia
5295	PIK3R1	HP:0001369	Arthritis
5295	PIK3R1	HP:0001388	Joint laxity
5295	PIK3R1	HP:0000023	Inguinal hernia
5295	PIK3R1	HP:0007485	Absence of subcutaneous fat
5295	PIK3R1	HP:0000007	Autosomal recessive inheritance
5295	PIK3R1	HP:0000006	Autosomal dominant inheritance
5295	PIK3R1	HP:0012191	B-cell lymphoma
5295	PIK3R1	HP:0000164	Abnormality of the dentition
5295	PIK3R1	HP:0000138	Ovarian cyst
5295	PIK3R1	HP:0012115	Hepatitis
5295	PIK3R1	HP:0007676	Hypoplasia of the iris
5295	PIK3R1	HP:0002783	Recurrent lower respiratory tract infections
5295	PIK3R1	HP:0002788	Recurrent upper respiratory tract infections
5295	PIK3R1	HP:0002754	Osteomyelitis
5295	PIK3R1	HP:0002750	Delayed skeletal maturation
5295	PIK3R1	HP:0002719	Recurrent infections
5295	PIK3R1	HP:0002718	Recurrent bacterial infections
5295	PIK3R1	HP:0002715	Abnormality of the immune system
5295	PIK3R1	HP:0002714	Downturned corners of mouth
5295	PIK3R1	HP:0002720	Decreased circulating IgA level
5295	PIK3R1	HP:0002721	Immunodeficiency
5295	PIK3R1	HP:0002024	Malabsorption
5295	PIK3R1	HP:0002028	Chronic diarrhea
5295	PIK3R1	HP:0002014	Diarrhea
5295	PIK3R1	HP:0002007	Frontal bossing
5295	PIK3R1	HP:0011800	Midface retrusion
5295	PIK3R1	HP:0009466	Radial deviation of finger
5295	PIK3R1	HP:0100578	Lipoatrophy
5295	PIK3R1	HP:0002110	Bronchiectasis
5295	PIK3R1	HP:0002167	Abnormality of speech or vocalization
5295	PIK3R1	HP:0003496	Increased circulating IgM level
5295	PIK3R1	HP:0010580	Enlarged epiphyses
5295	PIK3R1	HP:0003593	Infantile onset
5295	PIK3R1	HP:0003561	Birth length less than 3rd percentile
5295	PIK3R1	HP:0002205	Recurrent respiratory infections
5295	PIK3R1	HP:0010668	Abnormal zygomatic bone morphology
5295	PIK3R1	HP:0003510	Severe short stature
5295	PIK3R1	HP:0020072	Persistent EBV viremia
5295	PIK3R1	HP:0001015	Prominent superficial veins
5295	PIK3R1	HP:0100658	Cellulitis
5295	PIK3R1	HP:0100678	Premature skin wrinkling
5295	PIK3R1	HP:0200043	Verrucae
5295	PIK3R1	HP:0008499	High hypermetropia
5295	PIK3R1	HP:0010751	Dimple chin
5295	PIK3R1	HP:0003621	Juvenile onset
5295	PIK3R1	HP:0004279	Short palm
5295	PIK3R1	HP:0005550	Chronic lymphatic leukemia
5295	PIK3R1	HP:0001944	Dehydration
5295	PIK3R1	HP:0000615	Abnormal pupil morphology
5295	PIK3R1	HP:0001945	Fever
5295	PIK3R1	HP:0000627	Posterior embryotoxon
5295	PIK3R1	HP:0001952	Glucose intolerance
5295	PIK3R1	HP:0000682	Abnormal dental enamel morphology
5295	PIK3R1	HP:0000684	Delayed eruption of teeth
5295	PIK3R1	HP:0000691	Microdontia
5295	PIK3R1	HP:0000689	Dental malocclusion
5295	PIK3R1	HP:0000668	Hypodontia
5295	PIK3R1	HP:0004322	Short stature
5295	PIK3R1	HP:0004315	Decreased circulating IgG level
5295	PIK3R1	HP:0003074	Hyperglycemia
5295	PIK3R1	HP:0004396	Poor appetite
5295	PIK3R1	HP:0005692	Joint hyperflexibility
5295	PIK3R1	HP:0012735	Cough
5295	PIK3R1	HP:0000750	Delayed speech and language development
5295	PIK3R1	HP:0011463	Childhood onset
5295	PIK3R1	HP:0009125	Lipodystrophy
5295	PIK3R1	HP:0012758	Neurodevelopmental delay
5295	PIK3R1	HP:0004432	Agammaglobulinemia
5295	PIK3R1	HP:0003100	Slender long bone
5295	PIK3R1	HP:0003139	Panhypogammaglobulinemia
5295	PIK3R1	HP:0000855	Insulin resistance
5295	PIK3R1	HP:0000831	Insulin-resistant diabetes mellitus
5295	PIK3R1	HP:0000819	Diabetes mellitus
5295	PIK3R1	HP:0040218	Reduced natural killer cell count
5295	PIK3R1	HP:0030812	Enlarged tonsils
5295	PIK3R1	HP:0000988	Skin rash
5295	PIK3R1	HP:0000963	Thin skin
5295	PIK3R1	HP:0008070	Sparse hair
5295	PIK3R1	HP:0000286	Epicanthus
5295	PIK3R1	HP:0001596	Alopecia
5295	PIK3R1	HP:0000277	Abnormal mandible morphology
5295	PIK3R1	HP:0000271	Abnormality of the face
5295	PIK3R1	HP:0000272	Malar flattening
5295	PIK3R1	HP:0030084	Clinodactyly
5295	PIK3R1	HP:0001581	Recurrent skin infections
5295	PIK3R1	HP:0012219	Erythema nodosum
5295	PIK3R1	HP:0000246	Sinusitis
5295	PIK3R1	HP:0000218	High palate
5295	PIK3R1	HP:0001508	Failure to thrive
5295	PIK3R1	HP:0001518	Small for gestational age
5295	PIK3R1	HP:0002843	Abnormal T cell morphology
5295	PIK3R1	HP:0001511	Intrauterine growth retardation
5295	PIK3R1	HP:0001510	Growth delay
5295	PIK3R1	HP:0012378	Fatigue
5295	PIK3R1	HP:0000389	Chronic otitis media
5295	PIK3R1	HP:0000369	Low-set ears
5295	PIK3R1	HP:0000336	Prominent supraorbital ridges
5295	PIK3R1	HP:0000347	Micrognathia
5295	PIK3R1	HP:0000316	Hypertelorism
5295	PIK3R1	HP:0000331	Short chin
5295	PIK3R1	HP:0000325	Triangular face
5295	PIK3R1	HP:0002960	Autoimmunity
5295	PIK3R1	HP:0007957	Corneal opacity
5295	PIK3R1	HP:0000407	Sensorineural hearing impairment
5295	PIK3R1	HP:0000400	Macrotia
5295	PIK3R1	HP:0000483	Astigmatism
5295	PIK3R1	HP:0000485	Megalocornea
5295	PIK3R1	HP:0000490	Deeply set eye
5295	PIK3R1	HP:0001744	Splenomegaly
5295	PIK3R1	HP:0000431	Wide nasal bridge
5295	PIK3R1	HP:0000430	Underdeveloped nasal alae
5295	PIK3R1	HP:0000518	Cataract
5295	PIK3R1	HP:0001824	Weight loss
5295	PIK3R1	HP:0000506	Telecanthus
5295	PIK3R1	HP:0000509	Conjunctivitis
5295	PIK3R1	HP:0000501	Glaucoma
5295	PIK3R1	HP:0000593	Abnormal anterior chamber morphology
5295	PIK3R1	HP:0011220	Prominent forehead
5295	PIK3R1	HP:0000558	Rieger anomaly
5295	PIK3R1	HP:0001888	Lymphopenia
5295	PIK3R1	HP:0030381	Increased proportion of transitional B cells
5295	PIK3R1	HP:0000565	Esotropia
5295	PIK3R1	HP:0000545	Myopia
5295	PIK3R1	HP:0001875	Neutropenia
5296	PIK3R2	HP:0001162	Postaxial hand polydactyly
5296	PIK3R2	HP:0001250	Seizure
5296	PIK3R2	HP:0001263	Global developmental delay
5296	PIK3R2	HP:0025352	Typically de novo
5296	PIK3R2	HP:0001355	Megalencephaly
5296	PIK3R2	HP:0000006	Autosomal dominant inheritance
5296	PIK3R2	HP:0001302	Pachygyria
5296	PIK3R2	HP:0000160	Narrow mouth
5296	PIK3R2	HP:0008936	Axial hypotonia
5296	PIK3R2	HP:0002007	Frontal bossing
5296	PIK3R2	HP:0100542	Abnormal localization of kidney
5296	PIK3R2	HP:0002079	Hypoplasia of the corpus callosum
5296	PIK3R2	HP:0002119	Ventriculomegaly
5296	PIK3R2	HP:0002126	Polymicrogyria
5296	PIK3R2	HP:0002187	Intellectual disability, profound
5296	PIK3R2	HP:0007074	Thick corpus callosum
5296	PIK3R2	HP:0001090	Abnormally large globe
5296	PIK3R2	HP:0010775	Vascular ring
5296	PIK3R2	HP:0000637	Long palpebral fissure
5296	PIK3R2	HP:0000618	Blindness
5296	PIK3R2	HP:0003202	Skeletal muscle atrophy
5296	PIK3R2	HP:0100259	Postaxial polydactyly
5296	PIK3R2	HP:0000256	Macrocephaly
5296	PIK3R2	HP:0005105	Abnormal nasal morphology
5296	PIK3R2	HP:0002808	Kyphosis
5296	PIK3R2	HP:0006380	Knee flexion contracture
5296	PIK3R2	HP:0000238	Hydrocephalus
5296	PIK3R2	HP:0001548	Overgrowth
5296	PIK3R2	HP:0002943	Thoracic scoliosis
5296	PIK3R2	HP:0001671	Abnormal cardiac septum morphology
5296	PIK3R2	HP:0000348	High forehead
5296	PIK3R2	HP:0000316	Hypertelorism
5296	PIK3R2	HP:0001653	Mitral regurgitation
5296	PIK3R2	HP:0001629	Ventricular septal defect
5296	PIK3R2	HP:0001631	Atrial septal defect
5296	PIK3R2	HP:0005280	Depressed nasal bridge
5296	PIK3R2	HP:0000506	Telecanthus
5296	PIK3R2	HP:0000508	Ptosis
5297	PI4KA	HP:0002495	Impaired vibratory sensation
5297	PI4KA	HP:0002463	Language impairment
5297	PI4KA	HP:0003765	Psoriasiform dermatitis
5297	PI4KA	HP:0010959	Congenital pulmonary airway malformation
5297	PI4KA	HP:0010946	Dilatation of the renal pelvis
5297	PI4KA	HP:0010945	Fetal pyelectasis
5297	PI4KA	HP:0007301	Oromotor apraxia
5297	PI4KA	HP:0010873	Cervical spinal cord atrophy
5297	PI4KA	HP:0010862	Delayed fine motor development
5297	PI4KA	HP:0002415	Leukodystrophy
5297	PI4KA	HP:0001276	Hypertonia
5297	PI4KA	HP:0001272	Cerebellar atrophy
5297	PI4KA	HP:0002599	Head titubation
5297	PI4KA	HP:0001250	Seizure
5297	PI4KA	HP:0001251	Ataxia
5297	PI4KA	HP:0001249	Intellectual disability
5297	PI4KA	HP:0001260	Dysarthria
5297	PI4KA	HP:0001263	Global developmental delay
5297	PI4KA	HP:0001258	Spastic paraplegia
5297	PI4KA	HP:0001257	Spasticity
5297	PI4KA	HP:0002589	Gastrointestinal atresia
5297	PI4KA	HP:0002566	Intestinal malrotation
5297	PI4KA	HP:0100889	Abnormality of the ductus choledochus
5297	PI4KA	HP:0007359	Focal-onset seizure
5297	PI4KA	HP:0007340	Lower limb muscle weakness
5297	PI4KA	HP:0002510	Spastic tetraplegia
5297	PI4KA	HP:0002509	Limb hypertonia
5297	PI4KA	HP:0001371	Flexion contracture
5297	PI4KA	HP:0012015	EEG with frontal focal spikes
5297	PI4KA	HP:0012017	EEG with parietal focal spikes
5297	PI4KA	HP:0012014	EEG with central focal spikes
5297	PI4KA	HP:0001349	Facial diplegia
5297	PI4KA	HP:0001347	Hyperreflexia
5297	PI4KA	HP:0410011	Abnormality of masticatory muscle
5297	PI4KA	HP:0008796	Femoral retroversion
5297	PI4KA	HP:0001332	Dystonia
5297	PI4KA	HP:0033725	Thin corpus callosum
5297	PI4KA	HP:0001328	Specific learning disability
5297	PI4KA	HP:0032407	Bilateral perisylvian polymicrogyria
5297	PI4KA	HP:0000012	Urinary urgency
5297	PI4KA	HP:0000007	Autosomal recessive inheritance
5297	PI4KA	HP:0001310	Dysmetria
5297	PI4KA	HP:0001320	Cerebellar vermis hypoplasia
5297	PI4KA	HP:0001321	Cerebellar hypoplasia
5297	PI4KA	HP:0000143	Rectovaginal fistula
5297	PI4KA	HP:0012115	Hepatitis
5297	PI4KA	HP:0007663	Reduced visual acuity
5297	PI4KA	HP:0008969	Leg muscle stiffness
5297	PI4KA	HP:0008947	Infantile muscular hypotonia
5297	PI4KA	HP:0012110	Hypoplasia of the pons
5297	PI4KA	HP:0002722	Recurrent abscess formation
5297	PI4KA	HP:0002721	Immunodeficiency
5297	PI4KA	HP:0002020	Gastroesophageal reflux
5297	PI4KA	HP:0002037	Inflammation of the large intestine
5297	PI4KA	HP:0002015	Dysphagia
5297	PI4KA	HP:0002089	Pulmonary hypoplasia
5297	PI4KA	HP:0002080	Intention tremor
5297	PI4KA	HP:0100543	Cognitive impairment
5297	PI4KA	HP:0002061	Lower limb spasticity
5297	PI4KA	HP:0011755	Ectopic posterior pituitary
5297	PI4KA	HP:0100592	Peritoneal abscess
5297	PI4KA	HP:0003487	Babinski sign
5297	PI4KA	HP:0002119	Ventriculomegaly
5297	PI4KA	HP:0002126	Polymicrogyria
5297	PI4KA	HP:0003429	CNS hypomyelination
5297	PI4KA	HP:0002110	Bronchiectasis
5297	PI4KA	HP:0002104	Apnea
5297	PI4KA	HP:0002194	Delayed gross motor development
5297	PI4KA	HP:0010557	Overlapping fingers
5297	PI4KA	HP:0003593	Infantile onset
5297	PI4KA	HP:0002269	Abnormality of neuronal migration
5297	PI4KA	HP:0100702	Arachnoid cyst
5297	PI4KA	HP:0002223	Absent eyebrow
5297	PI4KA	HP:0008404	Nail dystrophy
5297	PI4KA	HP:0002293	Alopecia of scalp
5297	PI4KA	HP:0007033	Cerebellar dysplasia
5297	PI4KA	HP:0007024	Pseudobulbar paralysis
5297	PI4KA	HP:0011968	Feeding difficulties
5297	PI4KA	HP:0020045	Esodeviation
5297	PI4KA	HP:0002385	Paraparesis
5297	PI4KA	HP:0002392	EEG with polyspike wave complexes
5297	PI4KA	HP:0002359	Frequent falls
5297	PI4KA	HP:0002355	Difficulty walking
5297	PI4KA	HP:0100651	Type I diabetes mellitus
5297	PI4KA	HP:0025085	Bloody diarrhea
5297	PI4KA	HP:0010808	Protruding tongue
5297	PI4KA	HP:0001072	Thickened skin
5297	PI4KA	HP:0010766	Ectopic calcification
5297	PI4KA	HP:0002307	Drooling
5297	PI4KA	HP:0020190	Perisylvian predominant thick cortex pachygyria
5297	PI4KA	HP:0003621	Juvenile onset
5297	PI4KA	HP:0000639	Nystagmus
5297	PI4KA	HP:0000648	Optic atrophy
5297	PI4KA	HP:0012650	Perisylvian polymicrogyria
5297	PI4KA	HP:0031993	Hoffmann sign
5297	PI4KA	HP:0030674	Antenatal onset
5297	PI4KA	HP:0005684	Distal arthrogryposis
5297	PI4KA	HP:0000767	Pectus excavatum
5297	PI4KA	HP:0000750	Delayed speech and language development
5297	PI4KA	HP:0011463	Childhood onset
5297	PI4KA	HP:0011461	Fetal onset
5297	PI4KA	HP:0011448	Ankle clonus
5297	PI4KA	HP:0000778	Hypoplasia of the thymus
5297	PI4KA	HP:0004430	Severe combined immunodeficiency
5297	PI4KA	HP:0000872	Hashimoto thyroiditis
5297	PI4KA	HP:0010292	Absent uvula
5297	PI4KA	HP:0030890	Hyperintensity of cerebral white matter on MRI
5297	PI4KA	HP:0003273	Hip contracture
5297	PI4KA	HP:0003270	Abdominal distention
5297	PI4KA	HP:0100280	Crohn's disease
5297	PI4KA	HP:0008070	Sparse hair
5297	PI4KA	HP:0000268	Dolichocephaly
5297	PI4KA	HP:0006466	Ankle flexion contracture
5297	PI4KA	HP:0002808	Kyphosis
5297	PI4KA	HP:0002804	Arthrogryposis multiplex congenita
5297	PI4KA	HP:0006380	Knee flexion contracture
5297	PI4KA	HP:0000252	Microcephaly
5297	PI4KA	HP:0001561	Polyhydramnios
5297	PI4KA	HP:0001539	Omphalocele
5297	PI4KA	HP:0002835	Aspiration
5297	PI4KA	HP:0030051	Tip-toe gait
5297	PI4KA	HP:0001511	Intrauterine growth retardation
5297	PI4KA	HP:0005229	Jejunoileal ulceration
5297	PI4KA	HP:0005224	Rectal abscess
5297	PI4KA	HP:0000365	Hearing impairment
5297	PI4KA	HP:0000347	Micrognathia
5297	PI4KA	HP:0002960	Autoimmunity
5297	PI4KA	HP:0001629	Ventricular septal defect
5297	PI4KA	HP:0032965	Interstitial emphysema
5297	PI4KA	HP:0011157	Focal sensory seizure
5297	PI4KA	HP:0030319	Weakness of facial musculature
5297	PI4KA	HP:0012469	Infantile spasms
5297	PI4KA	HP:0012454	Unilateral wrist flexion contracture
5297	PI4KA	HP:0011100	Intestinal atresia
5297	PI4KA	HP:0000453	Choanal atresia
5297	PI4KA	HP:0001776	Bilateral talipes equinovarus
5297	PI4KA	HP:0001762	Talipes equinovarus
5297	PI4KA	HP:0001761	Pes cavus
5297	PI4KA	HP:0001890	Autoimmune hemolytic anemia
5297	PI4KA	HP:0001888	Lymphopenia
5307	PITX1	HP:0001156	Brachydactyly
5307	PITX1	HP:0001191	Abnormal carpal morphology
5307	PITX1	HP:0001231	Abnormal fingernail morphology
5307	PITX1	HP:0001233	2-3 finger syndactyly
5307	PITX1	HP:0003829	Typified by incomplete penetrance
5307	PITX1	HP:0003826	Stillbirth
5307	PITX1	HP:0001387	Joint stiffness
5307	PITX1	HP:0006190	Radially deviated wrists
5307	PITX1	HP:0000006	Autosomal dominant inheritance
5307	PITX1	HP:0002079	Hypoplasia of the corpus callosum
5307	PITX1	HP:0009556	Absent tibia
5307	PITX1	HP:0003577	Congenital onset
5307	PITX1	HP:0002280	Enlarged cisterna magna
5307	PITX1	HP:0010691	Mirror image foot polydactyly
5307	PITX1	HP:0009832	Abnormal distal phalanx morphology of finger
5307	PITX1	HP:0009756	Popliteal pterygium
5307	PITX1	HP:0004209	Clinodactyly of the 5th finger
5307	PITX1	HP:0009099	Median cleft palate
5307	PITX1	HP:0004322	Short stature
5307	PITX1	HP:0003065	Patellar hypoplasia
5307	PITX1	HP:0003063	Abnormality of the humerus
5307	PITX1	HP:0003042	Elbow dislocation
5307	PITX1	HP:0003016	Metaphyseal widening
5307	PITX1	HP:0009183	Joint contracture of the 5th finger
5307	PITX1	HP:0040071	Abnormal morphology of ulna
5307	PITX1	HP:0000256	Macrocephaly
5307	PITX1	HP:0005048	Synostosis of carpal bones
5307	PITX1	HP:0006501	Aplasia/Hypoplasia of the radius
5307	PITX1	HP:0000369	Low-set ears
5307	PITX1	HP:0000316	Hypertelorism
5307	PITX1	HP:0002987	Elbow flexion contracture
5307	PITX1	HP:0005280	Depressed nasal bridge
5307	PITX1	HP:0000494	Downslanted palpebral fissures
5307	PITX1	HP:0001776	Bilateral talipes equinovarus
5307	PITX1	HP:0001762	Talipes equinovarus
5307	PITX1	HP:0001841	Preaxial foot polydactyly
5308	PITX2	HP:0009918	Ectopia pupillae
5308	PITX2	HP:0003828	Variable expressivity
5308	PITX2	HP:0025348	Abnormal corneal limbus morphology
5308	PITX2	HP:0000047	Hypospadias
5308	PITX2	HP:0031159	Thinning of Descemet membrane
5308	PITX2	HP:0000006	Autosomal dominant inheritance
5308	PITX2	HP:0000164	Abnormality of the dentition
5308	PITX2	HP:0007676	Hypoplasia of the iris
5308	PITX2	HP:0500070	Conjunctival dermolipoma
5308	PITX2	HP:0002025	Anal stenosis
5308	PITX2	HP:0002023	Anal atresia
5308	PITX2	HP:0011800	Midface retrusion
5308	PITX2	HP:0001087	Developmental glaucoma
5308	PITX2	HP:0000639	Nystagmus
5308	PITX2	HP:0000646	Amblyopia
5308	PITX2	HP:0000627	Posterior embryotoxon
5308	PITX2	HP:0000677	Oligodontia
5308	PITX2	HP:0000691	Microdontia
5308	PITX2	HP:0000659	Peters anomaly
5308	PITX2	HP:0000668	Hypodontia
5308	PITX2	HP:0001999	Abnormal facial shape
5308	PITX2	HP:0030680	Abnormality of cardiovascular system morphology
5308	PITX2	HP:0011493	Central opacification of the cornea
5308	PITX2	HP:0011483	Anterior synechiae of the anterior chamber
5308	PITX2	HP:0011500	Polycoria
5308	PITX2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
5308	PITX2	HP:0000824	Decreased response to growth hormone stimulation test
5308	PITX2	HP:0008053	Aplasia/Hypoplasia of the iris
5308	PITX2	HP:0007759	Opacification of the corneal stroma
5308	PITX2	HP:0007730	Iris hypopigmentation
5308	PITX2	HP:0001582	Redundant skin
5308	PITX2	HP:0000219	Thin upper lip vermilion
5308	PITX2	HP:0000232	Everted lower lip vermilion
5308	PITX2	HP:0001510	Growth delay
5308	PITX2	HP:0007873	Abnormally prominent line of Schwalbe
5308	PITX2	HP:0000365	Hearing impairment
5308	PITX2	HP:0000336	Prominent supraorbital ridges
5308	PITX2	HP:0000316	Hypertelorism
5308	PITX2	HP:0025612	Corneal astigmatism
5308	PITX2	HP:0000327	Hypoplasia of the maxilla
5308	PITX2	HP:0000322	Short philtrum
5308	PITX2	HP:0007990	Hypoplastic iris stroma
5308	PITX2	HP:0005280	Depressed nasal bridge
5308	PITX2	HP:0000486	Strabismus
5308	PITX2	HP:0000485	Megalocornea
5308	PITX2	HP:0000482	Microcornea
5308	PITX2	HP:0000481	Abnormal cornea morphology
5308	PITX2	HP:0000431	Wide nasal bridge
5308	PITX2	HP:0000526	Aniridia
5308	PITX2	HP:0000523	Subcapsular cataract
5308	PITX2	HP:0000506	Telecanthus
5308	PITX2	HP:0000502	Abnormal conjunctiva morphology
5308	PITX2	HP:0000501	Glaucoma
5308	PITX2	HP:0000593	Abnormal anterior chamber morphology
5308	PITX2	HP:0011220	Prominent forehead
5308	PITX2	HP:0000558	Rieger anomaly
5309	PITX3	HP:0001115	Posterior polar cataract
5309	PITX3	HP:0001276	Hypertonia
5309	PITX3	HP:0001249	Intellectual disability
5309	PITX3	HP:0000007	Autosomal recessive inheritance
5309	PITX3	HP:0000006	Autosomal dominant inheritance
5309	PITX3	HP:0001315	Reduced tendon reflexes
5309	PITX3	HP:0002072	Chorea
5309	PITX3	HP:0003577	Congenital onset
5309	PITX3	HP:0000618	Blindness
5309	PITX3	HP:0000659	Peters anomaly
5309	PITX3	HP:0007700	Ocular anterior segment dysgenesis
5309	PITX3	HP:0007759	Opacification of the corneal stroma
5309	PITX3	HP:0007906	Ocular hypertension
5309	PITX3	HP:0000482	Microcornea
5309	PITX3	HP:0000518	Cataract
5309	PITX3	HP:0000519	Developmental cataract
5309	PITX3	HP:0000568	Microphthalmia
5310	PKD1	HP:0003774	Stage 5 chronic kidney disease
5310	PKD1	HP:0000083	Renal insufficiency
5310	PKD1	HP:0000010	Recurrent urinary tract infections
5310	PKD1	HP:0000006	Autosomal dominant inheritance
5310	PKD1	HP:0002616	Aortic root aneurysm
5310	PKD1	HP:0000113	Polycystic kidney dysplasia
5310	PKD1	HP:0000107	Renal cyst
5310	PKD1	HP:0000105	Enlarged kidney
5310	PKD1	HP:0001407	Hepatic cysts
5310	PKD1	HP:0011760	Pituitary growth hormone cell adenoma
5310	PKD1	HP:0100702	Arachnoid cyst
5310	PKD1	HP:0002253	Colonic diverticula
5310	PKD1	HP:0007029	Cerebral berry aneurysm
5310	PKD1	HP:0004944	Dilatation of the cerebral artery
5310	PKD1	HP:0012622	Chronic kidney disease
5310	PKD1	HP:0000790	Hematuria
5310	PKD1	HP:0000787	Nephrolithiasis
5310	PKD1	HP:0000822	Hypertension
5310	PKD1	HP:0003259	Elevated circulating creatinine concentration
5310	PKD1	HP:0012213	Decreased glomerular filtration rate
5310	PKD1	HP:0012207	Reduced sperm motility
5310	PKD1	HP:0006557	Polycystic liver disease
5310	PKD1	HP:0011004	Abnormal systemic arterial morphology
5310	PKD1	HP:0012330	Pyelonephritis
5310	PKD1	HP:0001653	Mitral regurgitation
5310	PKD1	HP:0001634	Mitral valve prolapse
5310	PKD1	HP:0001737	Pancreatic cysts
5310	PKD1	HP:0012591	Abnormal urinary electrolyte concentration
5310	PKD1	HP:0012592	Albuminuria
5310	PKD1	HP:0012531	Pain
5311	PKD2	HP:0003774	Stage 5 chronic kidney disease
5311	PKD2	HP:0003829	Typified by incomplete penetrance
5311	PKD2	HP:0000083	Renal insufficiency
5311	PKD2	HP:0000010	Recurrent urinary tract infections
5311	PKD2	HP:0000006	Autosomal dominant inheritance
5311	PKD2	HP:0002616	Aortic root aneurysm
5311	PKD2	HP:0006254	Elevated circulating alpha-fetoprotein concentration
5311	PKD2	HP:0000113	Polycystic kidney dysplasia
5311	PKD2	HP:0000107	Renal cyst
5311	PKD2	HP:0000105	Enlarged kidney
5311	PKD2	HP:0001407	Hepatic cysts
5311	PKD2	HP:0011800	Midface retrusion
5311	PKD2	HP:0030948	Elevated gamma-glutamyltransferase level
5311	PKD2	HP:0011760	Pituitary growth hormone cell adenoma
5311	PKD2	HP:0003596	Middle age onset
5311	PKD2	HP:0002240	Hepatomegaly
5311	PKD2	HP:0100702	Arachnoid cyst
5311	PKD2	HP:0003676	Progressive
5311	PKD2	HP:0003621	Juvenile onset
5311	PKD2	HP:0004944	Dilatation of the cerebral artery
5311	PKD2	HP:0005562	Multiple renal cysts
5311	PKD2	HP:0012622	Chronic kidney disease
5311	PKD2	HP:0011462	Young adult onset
5311	PKD2	HP:0000790	Hematuria
5311	PKD2	HP:0000787	Nephrolithiasis
5311	PKD2	HP:0003155	Elevated circulating alkaline phosphatase concentration
5311	PKD2	HP:0000822	Hypertension
5311	PKD2	HP:0003259	Elevated circulating creatinine concentration
5311	PKD2	HP:0000952	Jaundice
5311	PKD2	HP:0012213	Decreased glomerular filtration rate
5311	PKD2	HP:0012207	Reduced sperm motility
5311	PKD2	HP:0006557	Polycystic liver disease
5311	PKD2	HP:0002900	Hypokalemia
5311	PKD2	HP:0001696	Situs inversus totalis
5311	PKD2	HP:0011004	Abnormal systemic arterial morphology
5311	PKD2	HP:0012330	Pyelonephritis
5311	PKD2	HP:0001651	Dextrocardia
5311	PKD2	HP:0000324	Facial asymmetry
5311	PKD2	HP:0001634	Mitral valve prolapse
5311	PKD2	HP:0001737	Pancreatic cysts
5311	PKD2	HP:0012591	Abnormal urinary electrolyte concentration
5311	PKD2	HP:0012592	Albuminuria
5311	PKD2	HP:0012531	Pain
5313	PKLR	HP:0025109	Reduced red cell pyruvate kinase level
5313	PKLR	HP:0000007	Autosomal recessive inheritance
5313	PKLR	HP:0000006	Autosomal dominant inheritance
5313	PKLR	HP:0012132	Erythroid hyperplasia
5313	PKLR	HP:0003452	Increased serum iron
5313	PKLR	HP:0008282	Unconjugated hyperbilirubinemia
5313	PKLR	HP:0003577	Congenital onset
5313	PKLR	HP:0002240	Hepatomegaly
5313	PKLR	HP:0004870	Chronic hemolytic anemia
5313	PKLR	HP:0020062	Decreased hemoglobin concentration
5313	PKLR	HP:0004804	Congenital hemolytic anemia
5313	PKLR	HP:0001081	Cholelithiasis
5313	PKLR	HP:0001082	Cholecystitis
5313	PKLR	HP:0020181	Reduced haptoglobin level
5313	PKLR	HP:0005502	Increased red cell osmotic fragility
5313	PKLR	HP:0001923	Reticulocytosis
5313	PKLR	HP:0001903	Anemia
5313	PKLR	HP:0001901	Polycythemia
5313	PKLR	HP:0011463	Childhood onset
5313	PKLR	HP:0004447	Poikilocytosis
5313	PKLR	HP:0003281	Increased circulating ferritin concentration
5313	PKLR	HP:0000980	Pallor
5313	PKLR	HP:0000952	Jaundice
5313	PKLR	HP:0001511	Intrauterine growth retardation
5313	PKLR	HP:0006579	Prolonged neonatal jaundice
5313	PKLR	HP:0012463	Elevated transferrin saturation
5313	PKLR	HP:0001790	Nonimmune hydrops fetalis
5313	PKLR	HP:0001789	Hydrops fetalis
5313	PKLR	HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration
5313	PKLR	HP:0001744	Splenomegaly
5313	PKLR	HP:0011273	Anisocytosis
5313	PKLR	HP:0001877	Abnormal erythrocyte morphology
5314	PKHD1	HP:0025143	Chills
5314	PKHD1	HP:0003774	Stage 5 chronic kidney disease
5314	PKHD1	HP:0008659	Multiple small medullary renal cysts
5314	PKHD1	HP:0003811	Neonatal death
5314	PKHD1	HP:0000083	Renal insufficiency
5314	PKHD1	HP:0001396	Cholestasis
5314	PKHD1	HP:0001395	Hepatic fibrosis
5314	PKHD1	HP:0001394	Cirrhosis
5314	PKHD1	HP:0000010	Recurrent urinary tract infections
5314	PKHD1	HP:0000007	Autosomal recessive inheritance
5314	PKHD1	HP:0002612	Congenital hepatic fibrosis
5314	PKHD1	HP:0002613	Biliary cirrhosis
5314	PKHD1	HP:0002630	Fat malabsorption
5314	PKHD1	HP:0000113	Polycystic kidney dysplasia
5314	PKHD1	HP:0002791	Hypoventilation
5314	PKHD1	HP:0032545	Abdominal rigidity
5314	PKHD1	HP:0000107	Renal cyst
5314	PKHD1	HP:0001433	Hepatosplenomegaly
5314	PKHD1	HP:0000105	Enlarged kidney
5314	PKHD1	HP:0001409	Portal hypertension
5314	PKHD1	HP:0001405	Periportal fibrosis
5314	PKHD1	HP:0001407	Hepatic cysts
5314	PKHD1	HP:0001406	Intrahepatic cholestasis
5314	PKHD1	HP:0002018	Nausea
5314	PKHD1	HP:0002027	Abdominal pain
5314	PKHD1	HP:0002013	Vomiting
5314	PKHD1	HP:0002009	Potter facies
5314	PKHD1	HP:0100523	Liver abscess
5314	PKHD1	HP:0002089	Pulmonary hypoplasia
5314	PKHD1	HP:0100543	Cognitive impairment
5314	PKHD1	HP:0030948	Elevated gamma-glutamyltransferase level
5314	PKHD1	HP:0002040	Esophageal varix
5314	PKHD1	HP:0002039	Anorexia
5314	PKHD1	HP:0100520	Oliguria
5314	PKHD1	HP:0100512	Low levels of vitamin D
5314	PKHD1	HP:0100513	Low levels of vitamin E
5314	PKHD1	HP:0002108	Spontaneous pneumothorax
5314	PKHD1	HP:0011892	Low levels of vitamin K
5314	PKHD1	HP:0004719	Hyperechogenic kidneys
5314	PKHD1	HP:0003596	Middle age onset
5314	PKHD1	HP:0003593	Infantile onset
5314	PKHD1	HP:0003577	Congenital onset
5314	PKHD1	HP:0002243	Protein-losing enteropathy
5314	PKHD1	HP:0002240	Hepatomegaly
5314	PKHD1	HP:0002239	Gastrointestinal hemorrhage
5314	PKHD1	HP:0002248	Hematemesis
5314	PKHD1	HP:0011968	Feeding difficulties
5314	PKHD1	HP:0001081	Cholelithiasis
5314	PKHD1	HP:0003623	Neonatal onset
5314	PKHD1	HP:0032106	Conjunctival icterus
5314	PKHD1	HP:0004905	Low levels of vitamin A
5314	PKHD1	HP:0005576	Tubulointerstitial fibrosis
5314	PKHD1	HP:0005565	Reduced renal corticomedullary differentiation
5314	PKHD1	HP:0005564	Absence of renal corticomedullary differentiation
5314	PKHD1	HP:0001971	Hypersplenism
5314	PKHD1	HP:0001974	Leukocytosis
5314	PKHD1	HP:0001944	Dehydration
5314	PKHD1	HP:0001945	Fever
5314	PKHD1	HP:0001959	Polydipsia
5314	PKHD1	HP:0001919	Acute kidney injury
5314	PKHD1	HP:0031964	Elevated circulating alanine aminotransferase concentration
5314	PKHD1	HP:0030674	Antenatal onset
5314	PKHD1	HP:0011463	Childhood onset
5314	PKHD1	HP:0011462	Young adult onset
5314	PKHD1	HP:0003155	Elevated circulating alkaline phosphatase concentration
5314	PKHD1	HP:0000822	Hypertension
5314	PKHD1	HP:0040064	Abnormality of limbs
5314	PKHD1	HP:0045056	Abnormal circulating alpha-fetoprotein concentration
5314	PKHD1	HP:0000989	Pruritus
5314	PKHD1	HP:0000952	Jaundice
5314	PKHD1	HP:0002884	Hepatoblastoma
5314	PKHD1	HP:0012202	Increased serum bile acid concentration
5314	PKHD1	HP:0002878	Respiratory failure
5314	PKHD1	HP:0001562	Oligohydramnios
5314	PKHD1	HP:0001541	Ascites
5314	PKHD1	HP:0001510	Growth delay
5314	PKHD1	HP:0011040	Abnormal intrahepatic bile duct morphology
5314	PKHD1	HP:0006560	Biliary hyperplasia
5314	PKHD1	HP:0006532	Recurrent pneumonia
5314	PKHD1	HP:0002908	Conjugated hyperbilirubinemia
5314	PKHD1	HP:0002902	Hyponatremia
5314	PKHD1	HP:0000369	Low-set ears
5314	PKHD1	HP:0000347	Micrognathia
5314	PKHD1	HP:0030153	Cholangiocarcinoma
5314	PKHD1	HP:0030151	Cholangitis
5314	PKHD1	HP:0001737	Pancreatic cysts
5314	PKHD1	HP:0000457	Depressed nasal ridge
5314	PKHD1	HP:0001744	Splenomegaly
5314	PKHD1	HP:0001824	Weight loss
5314	PKHD1	HP:0001873	Thrombocytopenia
5317	PKP1	HP:0100806	Sepsis
5317	PKP1	HP:0100825	Cheilitis
5317	PKP1	HP:0007446	Palmoplantar blistering
5317	PKP1	HP:0007502	Follicular hyperkeratosis
5317	PKP1	HP:0000007	Autosomal recessive inheritance
5317	PKP1	HP:0000164	Abnormality of the dentition
5317	PKP1	HP:0002028	Chronic diarrhea
5317	PKP1	HP:0003577	Congenital onset
5317	PKP1	HP:0002223	Absent eyebrow
5317	PKP1	HP:0008404	Nail dystrophy
5317	PKP1	HP:0002289	Alopecia universalis
5317	PKP1	HP:0002293	Alopecia of scalp
5317	PKP1	HP:0008391	Dystrophic fingernails
5317	PKP1	HP:0001030	Fragile skin
5317	PKP1	HP:0002355	Difficulty walking
5317	PKP1	HP:0100699	Scarring
5317	PKP1	HP:0000670	Carious teeth
5317	PKP1	HP:0004322	Short stature
5317	PKP1	HP:0030809	Abnormal tongue morphology
5317	PKP1	HP:0000972	Palmoplantar hyperkeratosis
5317	PKP1	HP:0000989	Pruritus
5317	PKP1	HP:0000982	Palmoplantar keratoderma
5317	PKP1	HP:0000970	Anhidrosis
5317	PKP1	HP:0000968	Ectodermal dysplasia
5317	PKP1	HP:0000966	Hypohidrosis
5317	PKP1	HP:0008070	Sparse hair
5317	PKP1	HP:0008066	Abnormal blistering of the skin
5317	PKP1	HP:0040181	Chapped lip
5317	PKP1	HP:0040189	Scaling skin
5317	PKP1	HP:0012227	Urethral stricture
5317	PKP1	HP:0001581	Recurrent skin infections
5317	PKP1	HP:0001508	Failure to thrive
5317	PKP1	HP:0005218	Anoperineal fistula
5317	PKP1	HP:0006532	Recurrent pneumonia
5317	PKP1	HP:0006482	Abnormality of dental morphology
5317	PKP1	HP:0000561	Absent eyelashes
5318	PKP2	HP:0001279	Syncope
5318	PKP2	HP:0000006	Autosomal dominant inheritance
5318	PKP2	HP:0002094	Dyspnea
5318	PKP2	HP:0011715	Trifascicular block
5318	PKP2	HP:0011712	Right bundle branch block
5318	PKP2	HP:0011704	Sick sinus syndrome
5318	PKP2	HP:0011705	First degree atrioventricular block
5318	PKP2	HP:0004756	Ventricular tachycardia
5318	PKP2	HP:0004755	Supraventricular tachycardia
5318	PKP2	HP:0004751	Paroxysmal ventricular tachycardia
5318	PKP2	HP:0001962	Palpitations
5318	PKP2	HP:0004308	Ventricular arrhythmia
5318	PKP2	HP:0011462	Young adult onset
5318	PKP2	HP:0034304	Epsilon wave
5318	PKP2	HP:0034364	Fibrofatty replacement of right ventricular myocardium
5318	PKP2	HP:0011663	Right ventricular cardiomyopathy
5318	PKP2	HP:0012251	ST segment elevation
5318	PKP2	HP:0001695	Cardiac arrest
5318	PKP2	HP:0001649	Tachycardia
5318	PKP2	HP:0001645	Sudden cardiac death
5318	PKP2	HP:0001663	Ventricular fibrillation
5318	PKP2	HP:0006698	Dilatation of the ventricular cavity
5318	PKP2	HP:0006682	Premature ventricular contraction
5318	PKP2	HP:0006677	Prolonged QRS complex
5320	PLA2G2A	HP:0000006	Autosomal dominant inheritance
5320	PLA2G2A	HP:0001428	Somatic mutation
5320	PLA2G2A	HP:0005584	Renal cell carcinoma
5320	PLA2G2A	HP:0002891	Uterine leiomyosarcoma
5320	PLA2G2A	HP:0006753	Neoplasm of the stomach
5320	PLA2G2A	HP:0006740	Transitional cell carcinoma of the bladder
5320	PLA2G2A	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
5321	PLA2G4A	HP:0032244	Decreased serum thromboxane B2
5321	PLA2G4A	HP:0002592	Gastric ulcer
5321	PLA2G4A	HP:0002588	Duodenal ulcer
5321	PLA2G4A	HP:0000007	Autosomal recessive inheritance
5321	PLA2G4A	HP:0032575	Decreased circulating 12-HETE
5321	PLA2G4A	HP:0004791	Esophageal ulceration
5321	PLA2G4A	HP:0003540	Impaired platelet aggregation
5321	PLA2G4A	HP:0030361	Abnormal circulating eicosanoid concentration
5321	PLA2G4A	HP:0001891	Iron deficiency anemia
5322	PLA2G5	HP:0012045	Retinal flecks
5322	PLA2G5	HP:0000007	Autosomal recessive inheritance
5322	PLA2G5	HP:0000662	Nyctalopia
5322	PLA2G5	HP:0000505	Visual impairment
5324	PLAG1	HP:0001159	Syndactyly
5324	PLAG1	HP:0001270	Motor delay
5324	PLAG1	HP:0001263	Global developmental delay
5324	PLAG1	HP:0000045	Abnormality of the scrotum
5324	PLAG1	HP:0000048	Bifid scrotum
5324	PLAG1	HP:0000047	Hypospadias
5324	PLAG1	HP:0000023	Inguinal hernia
5324	PLAG1	HP:0000028	Cryptorchidism
5324	PLAG1	HP:0008897	Postnatal growth retardation
5324	PLAG1	HP:0008872	Feeding difficulties in infancy
5324	PLAG1	HP:0000006	Autosomal dominant inheritance
5324	PLAG1	HP:0000175	Cleft palate
5324	PLAG1	HP:0006266	Small placenta
5324	PLAG1	HP:0001428	Somatic mutation
5324	PLAG1	HP:0002007	Frontal bossing
5324	PLAG1	HP:0002099	Asthma
5324	PLAG1	HP:0100555	Asymmetric growth
5324	PLAG1	HP:0010442	Polydactyly
5324	PLAG1	HP:0003561	Birth length less than 3rd percentile
5324	PLAG1	HP:0007018	Attention deficit hyperactivity disorder
5324	PLAG1	HP:0100684	Salivary gland neoplasm
5324	PLAG1	HP:0100607	Dysmenorrhea
5324	PLAG1	HP:0004209	Clinodactyly of the 5th finger
5324	PLAG1	HP:0001943	Hypoglycemia
5324	PLAG1	HP:0004325	Decreased body weight
5324	PLAG1	HP:0000750	Delayed speech and language development
5324	PLAG1	HP:0004482	Relative macrocephaly
5324	PLAG1	HP:0000821	Hypothyroidism
5324	PLAG1	HP:0009237	Short 5th finger
5324	PLAG1	HP:0100257	Ectrodactyly
5324	PLAG1	HP:0000957	Cafe-au-lait spot
5324	PLAG1	HP:0040196	Mild microcephaly
5324	PLAG1	HP:0001562	Oligohydramnios
5324	PLAG1	HP:0001518	Small for gestational age
5324	PLAG1	HP:0001511	Intrauterine growth retardation
5324	PLAG1	HP:0000369	Low-set ears
5324	PLAG1	HP:0000347	Micrognathia
5324	PLAG1	HP:0000325	Triangular face
5324	PLAG1	HP:0001626	Abnormality of the cardiovascular system
5324	PLAG1	HP:0030260	Microphallus
5324	PLAG1	HP:0001804	Hypoplastic fingernail
5324	PLAG1	HP:0011220	Prominent forehead
5325	PLAGL1	HP:0010866	Abdominal wall defect
5325	PLAGL1	HP:0001250	Seizure
5325	PLAGL1	HP:0001252	Hypotonia
5325	PLAGL1	HP:0000065	Labial hypertrophy
5325	PLAGL1	HP:0000077	Abnormality of the kidney
5325	PLAGL1	HP:0000079	Abnormality of the urinary system
5325	PLAGL1	HP:0001388	Joint laxity
5325	PLAGL1	HP:0000028	Cryptorchidism
5325	PLAGL1	HP:0008897	Postnatal growth retardation
5325	PLAGL1	HP:0002643	Neonatal respiratory distress
5325	PLAGL1	HP:0000158	Macroglossia
5325	PLAGL1	HP:0002123	Generalized myoclonic seizure
5325	PLAGL1	HP:0008255	Transient neonatal diabetes mellitus
5325	PLAGL1	HP:0002240	Hepatomegaly
5325	PLAGL1	HP:0100767	Abnormal placenta morphology
5325	PLAGL1	HP:0009800	Maternal diabetes
5325	PLAGL1	HP:0004904	Maturity-onset diabetes of the young
5325	PLAGL1	HP:0001944	Dehydration
5325	PLAGL1	HP:0001953	Diabetic ketoacidosis
5325	PLAGL1	HP:0003074	Hyperglycemia
5325	PLAGL1	HP:0000707	Abnormality of the nervous system
5325	PLAGL1	HP:0012758	Neurodevelopmental delay
5325	PLAGL1	HP:0000857	Neonatal insulin-dependent diabetes mellitus
5325	PLAGL1	HP:0000826	Precocious puberty
5325	PLAGL1	HP:0000821	Hypothyroidism
5325	PLAGL1	HP:0040064	Abnormality of limbs
5325	PLAGL1	HP:0040216	Hypoinsulinemia
5325	PLAGL1	HP:0000278	Retrognathia
5325	PLAGL1	HP:0000271	Abnormality of the face
5325	PLAGL1	HP:0000269	Prominent occiput
5325	PLAGL1	HP:0030057	Autoimmune antibody positivity
5325	PLAGL1	HP:0000237	Small anterior fontanelle
5325	PLAGL1	HP:0000218	High palate
5325	PLAGL1	HP:0000212	Gingival overgrowth
5325	PLAGL1	HP:0001562	Oligohydramnios
5325	PLAGL1	HP:0001537	Umbilical hernia
5325	PLAGL1	HP:0001508	Failure to thrive
5325	PLAGL1	HP:0001518	Small for gestational age
5325	PLAGL1	HP:0001511	Intrauterine growth retardation
5325	PLAGL1	HP:0000363	Abnormal earlobe morphology
5325	PLAGL1	HP:0000365	Hearing impairment
5325	PLAGL1	HP:0000347	Micrognathia
5325	PLAGL1	HP:0001643	Patent ductus arteriosus
5325	PLAGL1	HP:0001629	Ventricular septal defect
5325	PLAGL1	HP:0001627	Abnormal heart morphology
5325	PLAGL1	HP:0001640	Cardiomegaly
5325	PLAGL1	HP:0000448	Prominent nose
5325	PLAGL1	HP:0001804	Hypoplastic fingernail
5325	PLAGL1	HP:0000586	Shallow orbits
5328	PLAU	HP:0002423	Long-tract signs
5328	PLAU	HP:0002511	Alzheimer disease
5328	PLAU	HP:0000006	Autosomal dominant inheritance
5328	PLAU	HP:0001300	Parkinsonism
5328	PLAU	HP:0410054	Decreased circulating GABA concentration
5328	PLAU	HP:0000132	Menorrhagia
5328	PLAU	HP:0008148	Impaired epinephrine-induced platelet aggregation
5328	PLAU	HP:0002185	Neurofibrillary tangles
5328	PLAU	HP:0011875	Abnormal platelet morphology
5328	PLAU	HP:0003581	Adult onset
5328	PLAU	HP:0000726	Dementia
5328	PLAU	HP:0000978	Bruising susceptibility
5328	PLAU	HP:0005261	Joint hemorrhage
5328	PLAU	HP:0000421	Epistaxis
5328	PLAU	HP:0001873	Thrombocytopenia
5331	PLCB3	HP:0001156	Brachydactyly
5331	PLCB3	HP:0003819	Death in childhood
5331	PLCB3	HP:0000007	Autosomal recessive inheritance
5331	PLCB3	HP:0001319	Neonatal hypotonia
5331	PLCB3	HP:0002643	Neonatal respiratory distress
5331	PLCB3	HP:0100670	Coarse metaphyseal trabecularization
5331	PLCB3	HP:0009826	Limb undergrowth
5331	PLCB3	HP:0011344	Severe global developmental delay
5331	PLCB3	HP:0003016	Metaphyseal widening
5331	PLCB3	HP:0003026	Short long bone
5331	PLCB3	HP:0000774	Narrow chest
5331	PLCB3	HP:0000773	Short ribs
5331	PLCB3	HP:0005787	Lumbar platyspondyly
5331	PLCB3	HP:0003196	Short nose
5331	PLCB3	HP:0003177	Squared iliac bones
5331	PLCB3	HP:0004568	Beaking of vertebral bodies
5331	PLCB3	HP:0004592	Thoracic platyspondyly
5331	PLCB3	HP:0000316	Hypertelorism
5331	PLCB3	HP:0001643	Patent ductus arteriosus
5331	PLCB3	HP:0007957	Corneal opacity
5331	PLCB3	HP:0030320	Increased intervertebral space
5331	PLCB3	HP:0005280	Depressed nasal bridge
5331	PLCB3	HP:0000463	Anteverted nares
5331	PLCB3	HP:0000520	Proptosis
5332	PLCB4	HP:0009902	Cleft helix
5332	PLCB4	HP:0003778	Short mandibular rami
5332	PLCB4	HP:0008572	External ear malformation
5332	PLCB4	HP:0009895	Abnormality of the crus of the helix
5332	PLCB4	HP:0008559	Hypoplastic superior helix
5332	PLCB4	HP:0025267	Snoring
5332	PLCB4	HP:0001290	Generalized hypotonia
5332	PLCB4	HP:0001252	Hypotonia
5332	PLCB4	HP:0001263	Global developmental delay
5332	PLCB4	HP:0008772	Aplasia/Hypoplasia of the external ear
5332	PLCB4	HP:0000007	Autosomal recessive inheritance
5332	PLCB4	HP:0000006	Autosomal dominant inheritance
5332	PLCB4	HP:0000183	Difficulty in tongue movements
5332	PLCB4	HP:0000193	Bifid uvula
5332	PLCB4	HP:0000160	Narrow mouth
5332	PLCB4	HP:0000162	Glossoptosis
5332	PLCB4	HP:0000175	Cleft palate
5332	PLCB4	HP:0000171	Microglossia
5332	PLCB4	HP:0007627	Mandibular condyle aplasia
5332	PLCB4	HP:0007628	Mandibular condyle hypoplasia
5332	PLCB4	HP:0011802	Hamartoma of tongue
5332	PLCB4	HP:0002098	Respiratory distress
5332	PLCB4	HP:0002104	Apnea
5332	PLCB4	HP:0011968	Feeding difficulties
5332	PLCB4	HP:0008537	Cleft at the superior portion of the pinna
5332	PLCB4	HP:0010754	Abnormality of the temporomandibular joint
5332	PLCB4	HP:0009088	Speech articulation difficulties
5332	PLCB4	HP:0011342	Mild global developmental delay
5332	PLCB4	HP:0000678	Dental crowding
5332	PLCB4	HP:0000689	Dental malocclusion
5332	PLCB4	HP:0004453	Overfolding of the superior helices
5332	PLCB4	HP:0030713	Vein of Galen aneurysmal malformation
5332	PLCB4	HP:0100277	Periauricular skin pits
5332	PLCB4	HP:0000293	Full cheeks
5332	PLCB4	HP:0000256	Macrocephaly
5332	PLCB4	HP:0002870	Obstructive sleep apnea
5332	PLCB4	HP:0030022	Question mark ear
5332	PLCB4	HP:0000384	Preauricular skin tag
5332	PLCB4	HP:0000377	Abnormal pinna morphology
5332	PLCB4	HP:0000365	Hearing impairment
5332	PLCB4	HP:0000358	Posteriorly rotated ears
5332	PLCB4	HP:0000369	Low-set ears
5332	PLCB4	HP:0000368	Low-set, posteriorly rotated ears
5332	PLCB4	HP:0000347	Micrognathia
5332	PLCB4	HP:0000311	Round face
5332	PLCB4	HP:0000324	Facial asymmetry
5332	PLCB4	HP:0012478	Temporomandibular joint ankylosis
5332	PLCB4	HP:0000402	Stenosis of the external auditory canal
5332	PLCB4	HP:0000508	Ptosis
5333	PLCD1	HP:0001231	Abnormal fingernail morphology
5333	PLCD1	HP:0000007	Autosomal recessive inheritance
5333	PLCD1	HP:0000006	Autosomal dominant inheritance
5333	PLCD1	HP:0005978	Type II diabetes mellitus
5333	PLCD1	HP:0003577	Congenital onset
5333	PLCD1	HP:0009720	Adenoma sebaceum
5333	PLCD1	HP:0008388	Abnormal toenail morphology
5333	PLCD1	HP:0000613	Photophobia
5333	PLCD1	HP:0000787	Nephrolithiasis
5333	PLCD1	HP:0001595	Abnormal hair morphology
5333	PLCD1	HP:0001598	Concave nail
5333	PLCD1	HP:0000499	Abnormal eyelash morphology
5333	PLCD1	HP:0000498	Blepharitis
5333	PLCD1	HP:0011121	Abnormality of skin morphology
5333	PLCD1	HP:0001820	Leukonychia
5336	PLCG2	HP:0000006	Autosomal dominant inheritance
5336	PLCG2	HP:0410135	Cold urticaria
5336	PLCG2	HP:0002720	Decreased circulating IgA level
5336	PLCG2	HP:0002099	Asthma
5336	PLCG2	HP:0003493	Antinuclear antibody positivity
5336	PLCG2	HP:0003593	Infantile onset
5336	PLCG2	HP:0011971	Dermatographic urticaria
5336	PLCG2	HP:0011950	Bronchiolitis
5336	PLCG2	HP:0001045	Vitiligo
5336	PLCG2	HP:0200020	Corneal erosion
5336	PLCG2	HP:0100658	Cellulitis
5336	PLCG2	HP:0100665	Angioedema
5336	PLCG2	HP:0010783	Erythema
5336	PLCG2	HP:0031972	Presyncope
5336	PLCG2	HP:0004387	Enterocolitis
5336	PLCG2	HP:0011463	Childhood onset
5336	PLCG2	HP:0003193	Allergic rhinitis
5336	PLCG2	HP:0000872	Hashimoto thyroiditis
5336	PLCG2	HP:0100279	Ulcerative colitis
5336	PLCG2	HP:0000989	Pruritus
5336	PLCG2	HP:0002829	Arthralgia
5336	PLCG2	HP:0012203	Onychomycosis
5336	PLCG2	HP:0002850	Decreased circulating total IgM
5336	PLCG2	HP:0012393	Allergy
5336	PLCG2	HP:0006515	Interstitial pneumonitis
5336	PLCG2	HP:0002958	Immune dysregulation
5336	PLCG2	HP:0000403	Recurrent otitis media
5336	PLCG2	HP:0005425	Recurrent sinopulmonary infections
5336	PLCG2	HP:0000518	Cataract
5336	PLCG2	HP:0030388	Decreased proportion of class-switched memory B cells
5337	PLD1	HP:0008722	Urethral diverticulum
5337	PLD1	HP:0031014	Arteria lusoria
5337	PLD1	HP:0000072	Hydroureter
5337	PLD1	HP:0000023	Inguinal hernia
5337	PLD1	HP:0000007	Autosomal recessive inheritance
5337	PLD1	HP:0031295	Left atrial enlargement
5337	PLD1	HP:0000126	Hydronephrosis
5337	PLD1	HP:0010446	Tricuspid stenosis
5337	PLD1	HP:0004762	Hypoplasia of right ventricle
5337	PLD1	HP:0003577	Congenital onset
5337	PLD1	HP:0004935	Pulmonary artery atresia
5337	PLD1	HP:0011591	Left aortic arch with cervical origin of the right subclavian artery
5337	PLD1	HP:0011555	Double inlet left ventricle
5337	PLD1	HP:0011662	Tricuspid atresia
5337	PLD1	HP:0011623	Muscular ventricular septal defect
5337	PLD1	HP:0034348	Subpulmonary stenosis
5337	PLD1	HP:0034350	Valvular pulmonary stenosis
5337	PLD1	HP:0000969	Edema
5337	PLD1	HP:0000961	Cyanosis
5337	PLD1	HP:0005180	Tricuspid regurgitation
5337	PLD1	HP:0001642	Pulmonic stenosis
5337	PLD1	HP:0001653	Mitral regurgitation
5337	PLD1	HP:0001655	Patent foramen ovale
5337	PLD1	HP:0001629	Ventricular septal defect
5337	PLD1	HP:0001631	Atrial septal defect
5337	PLD1	HP:0001634	Mitral valve prolapse
5337	PLD1	HP:0001704	Tricuspid valve prolapse
5337	PLD1	HP:0001718	Mitral stenosis
5337	PLD1	HP:0001789	Hydrops fetalis
5339	PLEC	HP:0008551	Microtia
5339	PLEC	HP:0003749	Pelvic girdle muscle weakness
5339	PLEC	HP:0003701	Proximal muscle weakness
5339	PLEC	HP:0001270	Motor delay
5339	PLEC	HP:0001284	Areflexia
5339	PLEC	HP:0001263	Global developmental delay
5339	PLEC	HP:0007446	Palmoplantar blistering
5339	PLEC	HP:0006101	Finger syndactyly
5339	PLEC	HP:0031045	Acral blistering
5339	PLEC	HP:0007383	Congenital localized absence of skin
5339	PLEC	HP:0007385	Aplasia cutis congenita of scalp
5339	PLEC	HP:0002505	Loss of ambulation
5339	PLEC	HP:0003811	Neonatal death
5339	PLEC	HP:0000096	Glomerular sclerosis
5339	PLEC	HP:0000079	Abnormality of the urinary system
5339	PLEC	HP:0000075	Renal duplication
5339	PLEC	HP:0000070	Ureterocele
5339	PLEC	HP:0001371	Flexion contracture
5339	PLEC	HP:0033802	Intra-epidermal blistering
5339	PLEC	HP:0001362	Calvarial skull defect
5339	PLEC	HP:0007556	Plantar hyperkeratosis
5339	PLEC	HP:0000007	Autosomal recessive inheritance
5339	PLEC	HP:0000006	Autosomal dominant inheritance
5339	PLEC	HP:0002643	Neonatal respiratory distress
5339	PLEC	HP:0000164	Abnormality of the dentition
5339	PLEC	HP:0001488	Bilateral ptosis
5339	PLEC	HP:0025435	Increased circulating lactate dehydrogenase concentration
5339	PLEC	HP:0008981	Calf muscle hypertrophy
5339	PLEC	HP:0006297	Enamel hypoplasia
5339	PLEC	HP:0007585	Skin fragility with non-scarring blistering
5339	PLEC	HP:0007589	Aplasia cutis congenita on trunk or limbs
5339	PLEC	HP:0000126	Hydronephrosis
5339	PLEC	HP:0000110	Renal dysplasia
5339	PLEC	HP:0002032	Esophageal atresia
5339	PLEC	HP:0003325	Limb-girdle muscle weakness
5339	PLEC	HP:0002015	Dysphagia
5339	PLEC	HP:0002012	Abnormality of the abdominal organs
5339	PLEC	HP:0002013	Vomiting
5339	PLEC	HP:0003341	Lamina lucida cleavage
5339	PLEC	HP:0003324	Generalized muscle weakness
5339	PLEC	HP:0005984	Elevated maternal serum alpha-fetoprotein
5339	PLEC	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
5339	PLEC	HP:0002086	Abnormality of the respiratory system
5339	PLEC	HP:0003391	Gowers sign
5339	PLEC	HP:0002041	Intractable diarrhea
5339	PLEC	HP:0011712	Right bundle branch block
5339	PLEC	HP:0040266	Proximal upper limb muscle hypertrophy
5339	PLEC	HP:0040287	Axial muscle atrophy
5339	PLEC	HP:0010477	Aplasia of the bladder
5339	PLEC	HP:0003473	Fatigable weakness
5339	PLEC	HP:0003458	EMG: myopathic abnormalities
5339	PLEC	HP:0002194	Delayed gross motor development
5339	PLEC	HP:0002164	Nail dysplasia
5339	PLEC	HP:0010547	Muscle flaccidity
5339	PLEC	HP:0010529	Echolalia
5339	PLEC	HP:0011859	Punctate keratitis
5339	PLEC	HP:0003577	Congenital onset
5339	PLEC	HP:0003555	Muscle fiber splitting
5339	PLEC	HP:0003551	Difficulty climbing stairs
5339	PLEC	HP:0003560	Muscular dystrophy
5339	PLEC	HP:0003557	Increased variability in muscle fiber diameter
5339	PLEC	HP:0002206	Pulmonary fibrosis
5339	PLEC	HP:0008401	Onychogryposis of toenails
5339	PLEC	HP:0008404	Nail dystrophy
5339	PLEC	HP:0100750	Atelectasis
5339	PLEC	HP:0200097	Oral mucosal blisters
5339	PLEC	HP:0010628	Facial palsy
5339	PLEC	HP:0430025	Bilateral facial palsy
5339	PLEC	HP:0011950	Bronchiolitis
5339	PLEC	HP:0020073	Hypopigmented macule
5339	PLEC	HP:0001056	Milia
5339	PLEC	HP:0001057	Aplasia cutis congenita
5339	PLEC	HP:0002381	Aphasia
5339	PLEC	HP:0001060	Axillary pterygium
5339	PLEC	HP:0001034	Hypermelanotic macule
5339	PLEC	HP:0001030	Fragile skin
5339	PLEC	HP:0002359	Frequent falls
5339	PLEC	HP:0003678	Rapidly progressive
5339	PLEC	HP:0200037	Skin vesicle
5339	PLEC	HP:0200034	Papule
5339	PLEC	HP:0001075	Atrophic scars
5339	PLEC	HP:0200042	Skin ulcer
5339	PLEC	HP:0200041	Skin erosion
5339	PLEC	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes
5339	PLEC	HP:0002300	Mutism
5339	PLEC	HP:0009073	Progressive proximal muscle weakness
5339	PLEC	HP:0000602	Ophthalmoplegia
5339	PLEC	HP:0001903	Anemia
5339	PLEC	HP:0009053	Distal lower limb muscle weakness
5339	PLEC	HP:0000682	Abnormal dental enamel morphology
5339	PLEC	HP:0009025	Increased connective tissue
5339	PLEC	HP:0000656	Ectropion
5339	PLEC	HP:0000670	Carious teeth
5339	PLEC	HP:0004322	Short stature
5339	PLEC	HP:0004334	Dermal atrophy
5339	PLEC	HP:0004399	Congenital pyloric atresia
5339	PLEC	HP:0034193	Stratum basale cleavage
5339	PLEC	HP:0003010	Prolonged bleeding time
5339	PLEC	HP:0004348	Abnormality of bone mineral density
5339	PLEC	HP:0011463	Childhood onset
5339	PLEC	HP:0011461	Fetal onset
5339	PLEC	HP:0000795	Abnormality of the urethra
5339	PLEC	HP:0003198	Myopathy
5339	PLEC	HP:0004471	Aplasia cutis congenita over the scalp vertex
5339	PLEC	HP:0003236	Elevated circulating creatine kinase concentration
5339	PLEC	HP:0004552	Scarring alopecia of scalp
5339	PLEC	HP:0003202	Skeletal muscle atrophy
5339	PLEC	HP:0034378	Urethrovesical occlusion
5339	PLEC	HP:0003270	Abdominal distention
5339	PLEC	HP:0010301	Spinal dysraphism
5339	PLEC	HP:0000978	Bruising susceptibility
5339	PLEC	HP:0000972	Palmoplantar hyperkeratosis
5339	PLEC	HP:0000989	Pruritus
5339	PLEC	HP:0000982	Palmoplantar keratoderma
5339	PLEC	HP:0000951	Abnormality of the skin
5339	PLEC	HP:0008065	Aplasia/Hypoplasia of the skin
5339	PLEC	HP:0008066	Abnormal blistering of the skin
5339	PLEC	HP:0100298	Motheaten muscle fibers
5339	PLEC	HP:0001596	Alopecia
5339	PLEC	HP:0012246	Oculomotor nerve palsy
5339	PLEC	HP:0000256	Macrocephaly
5339	PLEC	HP:0002804	Arthrogryposis multiplex congenita
5339	PLEC	HP:0012227	Urethral stricture
5339	PLEC	HP:0002875	Exertional dyspnea
5339	PLEC	HP:0001561	Polyhydramnios
5339	PLEC	HP:0001522	Death in infancy
5339	PLEC	HP:0012378	Fatigue
5339	PLEC	HP:0030208	Anti-acetylcholine receptor antibody positivity
5339	PLEC	HP:0002938	Lumbar hyperlordosis
5339	PLEC	HP:0001611	Hypernasal speech
5339	PLEC	HP:0001627	Abnormal heart morphology
5339	PLEC	HP:0001626	Abnormality of the cardiovascular system
5339	PLEC	HP:0000478	Abnormality of the eye
5339	PLEC	HP:0000491	Keratitis
5339	PLEC	HP:0000490	Deeply set eye
5339	PLEC	HP:0000463	Anteverted nares
5339	PLEC	HP:0001798	Anonychia
5339	PLEC	HP:0001771	Achilles tendon contracture
5339	PLEC	HP:0001770	Toe syndactyly
5339	PLEC	HP:0000430	Underdeveloped nasal alae
5339	PLEC	HP:0000508	Ptosis
5339	PLEC	HP:0001804	Hypoplastic fingernail
5339	PLEC	HP:0001812	Hyperconvex fingernails
5339	PLEC	HP:0000597	Ophthalmoparesis
5340	PLG	HP:0001290	Generalized hypotonia
5340	PLG	HP:0002588	Duodenal ulcer
5340	PLG	HP:0012027	Laryngeal edema
5340	PLG	HP:0000007	Autosomal recessive inheritance
5340	PLG	HP:0000006	Autosomal dominant inheritance
5340	PLG	HP:0001305	Dandy-Walker malformation
5340	PLG	HP:0001321	Cerebellar hypoplasia
5340	PLG	HP:0000137	Abnormality of the ovary
5340	PLG	HP:0000123	Nephritis
5340	PLG	HP:0002788	Recurrent upper respiratory tract infections
5340	PLG	HP:0031244	Swollen lip
5340	PLG	HP:0002086	Abnormality of the respiratory system
5340	PLG	HP:0002119	Ventriculomegaly
5340	PLG	HP:0003593	Infantile onset
5340	PLG	HP:0100665	Angioedema
5340	PLG	HP:0001977	Abnormal thrombosis
5340	PLG	HP:0000618	Blindness
5340	PLG	HP:0034197	Third trimester onset
5340	PLG	HP:0000704	Periodontitis
5340	PLG	HP:0011462	Young adult onset
5340	PLG	HP:0000787	Nephrolithiasis
5340	PLG	HP:0040228	Decreased level of plasminogen
5340	PLG	HP:0000951	Abnormality of the skin
5340	PLG	HP:0000282	Facial edema
5340	PLG	HP:0000256	Macrocephaly
5340	PLG	HP:0000238	Hydrocephalus
5340	PLG	HP:0000212	Gingival overgrowth
5340	PLG	HP:0000230	Gingivitis
5340	PLG	HP:0011027	Abnormal fallopian tube morphology
5340	PLG	HP:0000370	Abnormality of the middle ear
5340	PLG	HP:0030160	Cervicitis
5340	PLG	HP:0000478	Abnormality of the eye
5340	PLG	HP:0000509	Conjunctivitis
5340	PLG	HP:0000504	Abnormality of vision
5345	SERPINF2	HP:0000007	Autosomal recessive inheritance
5345	SERPINF2	HP:0002653	Bone pain
5345	SERPINF2	HP:0012151	Hemothorax
5345	SERPINF2	HP:0002170	Intracranial hemorrhage
5345	SERPINF2	HP:0011884	Abnormal umbilical stump bleeding
5345	SERPINF2	HP:0001934	Persistent bleeding after trauma
5345	SERPINF2	HP:0000790	Hematuria
5345	SERPINF2	HP:0040247	Reduced euglobulin clot lysis time
5345	SERPINF2	HP:0000978	Bruising susceptibility
5345	SERPINF2	HP:0012233	Intramuscular hematoma
5345	SERPINF2	HP:0000225	Gingival bleeding
5345	SERPINF2	HP:0005261	Joint hemorrhage
5345	SERPINF2	HP:0001892	Abnormal bleeding
5346	PLIN1	HP:0003758	Reduced subcutaneous adipose tissue
5346	PLIN1	HP:0003712	Skeletal muscle hypertrophy
5346	PLIN1	HP:0001297	Stroke
5346	PLIN1	HP:0001397	Hepatic steatosis
5346	PLIN1	HP:0001395	Hepatic fibrosis
5346	PLIN1	HP:0000006	Autosomal dominant inheritance
5346	PLIN1	HP:0000147	Polycystic ovaries
5346	PLIN1	HP:0008981	Calf muscle hypertrophy
5346	PLIN1	HP:0100578	Lipoatrophy
5346	PLIN1	HP:0002155	Hypertriglyceridemia
5346	PLIN1	HP:0003635	Loss of subcutaneous adipose tissue in limbs
5346	PLIN1	HP:0009017	Loss of gluteal subcutaneous adipose tissue
5346	PLIN1	HP:0011462	Young adult onset
5346	PLIN1	HP:0009125	Lipodystrophy
5346	PLIN1	HP:0000789	Infertility
5346	PLIN1	HP:0003117	Abnormal circulating hormone concentration
5346	PLIN1	HP:0000877	Insulin-resistant diabetes mellitus at puberty
5346	PLIN1	HP:0000876	Oligomenorrhea
5346	PLIN1	HP:0000855	Insulin resistance
5346	PLIN1	HP:0000831	Insulin-resistant diabetes mellitus
5346	PLIN1	HP:0000842	Hyperinsulinemia
5346	PLIN1	HP:0000822	Hypertension
5346	PLIN1	HP:0000956	Acanthosis nigricans
5346	PLIN1	HP:0005268	Miscarriage
5350	PLN	HP:0000006	Autosomal dominant inheritance
5350	PLN	HP:0100578	Lipoatrophy
5350	PLN	HP:0003457	EMG abnormality
5350	PLN	HP:0004757	Paroxysmal atrial fibrillation
5350	PLN	HP:0003596	Middle age onset
5350	PLN	HP:0100749	Chest pain
5350	PLN	HP:0004308	Ventricular arrhythmia
5350	PLN	HP:0011462	Young adult onset
5350	PLN	HP:0003198	Myopathy
5350	PLN	HP:0003236	Elevated circulating creatine kinase concentration
5350	PLN	HP:0000982	Palmoplantar keratoderma
5350	PLN	HP:0005110	Atrial fibrillation
5350	PLN	HP:0001644	Dilated cardiomyopathy
5350	PLN	HP:0001639	Hypertrophic cardiomyopathy
5350	PLN	HP:0001635	Congestive heart failure
5350	PLN	HP:0006673	Reduced systolic function
5350	PLN	HP:0000407	Sensorineural hearing impairment
5350	PLN	HP:0001712	Left ventricular hypertrophy
5350	PLN	HP:0001874	Abnormality of neutrophils
5351	PLOD1	HP:0001166	Arachnodactyly
5351	PLOD1	HP:0002495	Impaired vibratory sensation
5351	PLOD1	HP:0001252	Hypotonia
5351	PLOD1	HP:0007392	Excessive wrinkled skin
5351	PLOD1	HP:0003835	Shoulder subluxation
5351	PLOD1	HP:0000098	Tall stature
5351	PLOD1	HP:0001374	Congenital hip dislocation
5351	PLOD1	HP:0001373	Joint dislocation
5351	PLOD1	HP:0001388	Joint laxity
5351	PLOD1	HP:0000023	Inguinal hernia
5351	PLOD1	HP:0000015	Bladder diverticulum
5351	PLOD1	HP:0007517	Palmoplantar cutis laxa
5351	PLOD1	HP:0007502	Follicular hyperkeratosis
5351	PLOD1	HP:0031158	Widened atrophic scar
5351	PLOD1	HP:0031189	Wrist drop
5351	PLOD1	HP:0008780	Congenital bilateral hip dislocation
5351	PLOD1	HP:0001324	Muscle weakness
5351	PLOD1	HP:0000007	Autosomal recessive inheritance
5351	PLOD1	HP:0002647	Aortic dissection
5351	PLOD1	HP:0001319	Neonatal hypotonia
5351	PLOD1	HP:0001315	Reduced tendon reflexes
5351	PLOD1	HP:0002617	Vascular dilatation
5351	PLOD1	HP:0002624	Abnormal venous morphology
5351	PLOD1	HP:0002705	High, narrow palate
5351	PLOD1	HP:0002761	Generalized joint laxity
5351	PLOD1	HP:0002751	Kyphoscoliosis
5351	PLOD1	HP:0003324	Generalized muscle weakness
5351	PLOD1	HP:0002093	Respiratory insufficiency
5351	PLOD1	HP:0002091	Restrictive ventilatory defect
5351	PLOD1	HP:0003477	Peripheral axonal neuropathy
5351	PLOD1	HP:0003458	EMG: myopathic abnormalities
5351	PLOD1	HP:0002194	Delayed gross motor development
5351	PLOD1	HP:0002239	Gastrointestinal hemorrhage
5351	PLOD1	HP:0001058	Poor wound healing
5351	PLOD1	HP:0025019	Arterial rupture
5351	PLOD1	HP:0001030	Fragile skin
5351	PLOD1	HP:0003690	Limb muscle weakness
5351	PLOD1	HP:0001075	Atrophic scars
5351	PLOD1	HP:0032153	Joint subluxation
5351	PLOD1	HP:0008458	Progressive congenital scoliosis
5351	PLOD1	HP:0004942	Aortic aneurysm
5351	PLOD1	HP:0020152	Distal joint laxity
5351	PLOD1	HP:0000618	Blindness
5351	PLOD1	HP:0034006	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio
5351	PLOD1	HP:0000678	Dental crowding
5351	PLOD1	HP:0005659	Thoracic kyphoscoliosis
5351	PLOD1	HP:0005692	Joint hyperflexibility
5351	PLOD1	HP:0031936	Delayed ability to walk
5351	PLOD1	HP:0000767	Pectus excavatum
5351	PLOD1	HP:0003199	Decreased muscle mass
5351	PLOD1	HP:0000926	Platyspondyly
5351	PLOD1	HP:0003179	Protrusio acetabuli
5351	PLOD1	HP:0000883	Thin ribs
5351	PLOD1	HP:0045052	Abnormality of the brachial nerve plexus
5351	PLOD1	HP:0000993	Molluscoid pseudotumors
5351	PLOD1	HP:0000978	Bruising susceptibility
5351	PLOD1	HP:0000977	Soft skin
5351	PLOD1	HP:0000974	Hyperextensible skin
5351	PLOD1	HP:0000987	Atypical scarring of skin
5351	PLOD1	HP:0000963	Thin skin
5351	PLOD1	HP:0000939	Osteoporosis
5351	PLOD1	HP:0000938	Osteopenia
5351	PLOD1	HP:0100295	Muscle fiber atrophy
5351	PLOD1	HP:0000286	Epicanthus
5351	PLOD1	HP:0002827	Hip dislocation
5351	PLOD1	HP:0000243	Trigonocephaly
5351	PLOD1	HP:0025513	Scleral rupture
5351	PLOD1	HP:0001558	Decreased fetal movement
5351	PLOD1	HP:0001537	Umbilical hernia
5351	PLOD1	HP:0030043	Hip subluxation
5351	PLOD1	HP:0001519	Disproportionate tall stature
5351	PLOD1	HP:0012379	Abnormal circulating enzyme concentration or activity
5351	PLOD1	HP:0000377	Abnormal pinna morphology
5351	PLOD1	HP:0006532	Recurrent pneumonia
5351	PLOD1	HP:0002943	Thoracic scoliosis
5351	PLOD1	HP:0002999	Patellar dislocation
5351	PLOD1	HP:0002987	Elbow flexion contracture
5351	PLOD1	HP:0001635	Congestive heart failure
5351	PLOD1	HP:0001634	Mitral valve prolapse
5351	PLOD1	HP:0031629	Impaired tandem gait
5351	PLOD1	HP:0005294	Arterial dissection
5351	PLOD1	HP:0005280	Depressed nasal bridge
5351	PLOD1	HP:0000486	Strabismus
5351	PLOD1	HP:0000482	Microcornea
5351	PLOD1	HP:0000494	Downslanted palpebral fissures
5351	PLOD1	HP:0001788	Premature rupture of membranes
5351	PLOD1	HP:0001763	Pes planus
5351	PLOD1	HP:0001762	Talipes equinovarus
5351	PLOD1	HP:0000508	Ptosis
5351	PLOD1	HP:0000501	Glaucoma
5351	PLOD1	HP:0000592	Blue sclerae
5351	PLOD1	HP:0001892	Abnormal bleeding
5351	PLOD1	HP:0000563	Keratoconus
5351	PLOD1	HP:0000541	Retinal detachment
5351	PLOD1	HP:0000540	Hypermetropia
5351	PLOD1	HP:0000545	Myopia
5352	PLOD2	HP:0001371	Flexion contracture
5352	PLOD2	HP:0001387	Joint stiffness
5352	PLOD2	HP:0000023	Inguinal hernia
5352	PLOD2	HP:0002659	Increased susceptibility to fractures
5352	PLOD2	HP:0000007	Autosomal recessive inheritance
5352	PLOD2	HP:0002650	Scoliosis
5352	PLOD2	HP:0002645	Wormian bones
5352	PLOD2	HP:0002757	Recurrent fractures
5352	PLOD2	HP:0002093	Respiratory insufficiency
5352	PLOD2	HP:0001059	Pterygium
5352	PLOD2	HP:0004322	Short stature
5352	PLOD2	HP:0003080	Hydroxyprolinuria
5352	PLOD2	HP:0000768	Pectus carinatum
5352	PLOD2	HP:0000926	Platyspondyly
5352	PLOD2	HP:0000939	Osteoporosis
5352	PLOD2	HP:0000938	Osteopenia
5352	PLOD2	HP:0002808	Kyphosis
5352	PLOD2	HP:0002804	Arthrogryposis multiplex congenita
5352	PLOD2	HP:0006380	Knee flexion contracture
5352	PLOD2	HP:0006487	Bowing of the long bones
5352	PLOD2	HP:0002980	Femoral bowing
5352	PLOD2	HP:0002987	Elbow flexion contracture
5352	PLOD2	HP:0000325	Triangular face
5352	PLOD2	HP:0001762	Talipes equinovarus
5354	PLP1	HP:0002478	Progressive spastic quadriplegia
5354	PLP1	HP:0007325	Generalized dystonia
5354	PLP1	HP:0010936	Abnormality of the lower urinary tract
5354	PLP1	HP:0007266	Cerebral dysmyelination
5354	PLP1	HP:0007256	Abnormal pyramidal sign
5354	PLP1	HP:0010864	Intellectual disability, severe
5354	PLP1	HP:0007227	Macrogyria
5354	PLP1	HP:0007210	Lower limb amyotrophy
5354	PLP1	HP:0002421	Poor head control
5354	PLP1	HP:0001273	Abnormal corpus callosum morphology
5354	PLP1	HP:0001268	Mental deterioration
5354	PLP1	HP:0002599	Head titubation
5354	PLP1	HP:0001288	Gait disturbance
5354	PLP1	HP:0001285	Spastic tetraparesis
5354	PLP1	HP:0001256	Intellectual disability, mild
5354	PLP1	HP:0001250	Seizure
5354	PLP1	HP:0001252	Hypotonia
5354	PLP1	HP:0001251	Ataxia
5354	PLP1	HP:0001249	Intellectual disability
5354	PLP1	HP:0001265	Hyporeflexia
5354	PLP1	HP:0001266	Choreoathetosis
5354	PLP1	HP:0001260	Dysarthria
5354	PLP1	HP:0001263	Global developmental delay
5354	PLP1	HP:0001258	Spastic paraplegia
5354	PLP1	HP:0001257	Spasticity
5354	PLP1	HP:0007413	Nevus flammeus of the forehead
5354	PLP1	HP:0007377	Abnormality of somatosensory evoked potentials
5354	PLP1	HP:0007340	Lower limb muscle weakness
5354	PLP1	HP:0002540	Inability to walk
5354	PLP1	HP:0002505	Loss of ambulation
5354	PLP1	HP:0002503	Spinocerebellar tract degeneration
5354	PLP1	HP:0012043	Pendular nystagmus
5354	PLP1	HP:0001376	Limitation of joint mobility
5354	PLP1	HP:0001371	Flexion contracture
5354	PLP1	HP:0025336	Delayed ability to sit
5354	PLP1	HP:0001347	Hyperreflexia
5354	PLP1	HP:0001332	Dystonia
5354	PLP1	HP:0033725	Thin corpus callosum
5354	PLP1	HP:0001324	Muscle weakness
5354	PLP1	HP:0000011	Neurogenic bladder
5354	PLP1	HP:0001344	Absent speech
5354	PLP1	HP:0000012	Urinary urgency
5354	PLP1	HP:0001337	Tremor
5354	PLP1	HP:0001310	Dysmetria
5354	PLP1	HP:0002650	Scoliosis
5354	PLP1	HP:0001321	Cerebellar hypoplasia
5354	PLP1	HP:0001317	Abnormal cerebellum morphology
5354	PLP1	HP:0002607	Bowel incontinence
5354	PLP1	HP:0008936	Axial hypotonia
5354	PLP1	HP:0001419	X-linked recessive inheritance
5354	PLP1	HP:0032588	Hand apraxia
5354	PLP1	HP:0002015	Dysphagia
5354	PLP1	HP:0040330	Confluent hyperintensity of cerebral white matter on MRI
5354	PLP1	HP:0011800	Midface retrusion
5354	PLP1	HP:0002080	Intention tremor
5354	PLP1	HP:0100543	Cognitive impairment
5354	PLP1	HP:0002064	Spastic gait
5354	PLP1	HP:0002061	Lower limb spasticity
5354	PLP1	HP:0002071	Abnormality of extrapyramidal motor function
5354	PLP1	HP:0040288	Nasogastric tube feeding
5354	PLP1	HP:0003487	Babinski sign
5354	PLP1	HP:0002136	Broad-based gait
5354	PLP1	HP:0003429	CNS hypomyelination
5354	PLP1	HP:0002197	Generalized-onset seizure
5354	PLP1	HP:0002168	Scanning speech
5354	PLP1	HP:0002167	Abnormality of speech or vocalization
5354	PLP1	HP:0002171	Gliosis
5354	PLP1	HP:0003593	Infantile onset
5354	PLP1	HP:0100709	Reduction of oligodendroglia
5354	PLP1	HP:0004886	Congenital laryngeal stridor
5354	PLP1	HP:0002205	Recurrent respiratory infections
5354	PLP1	HP:0002204	Pulmonary embolism
5354	PLP1	HP:0002283	Global brain atrophy
5354	PLP1	HP:0007020	Progressive spastic paraplegia
5354	PLP1	HP:0032044	Decreased vigilance
5354	PLP1	HP:0430015	Abnormal morphology of musculature of pharynx
5354	PLP1	HP:0002361	Psychomotor deterioration
5354	PLP1	HP:0002376	Developmental regression
5354	PLP1	HP:0002342	Intellectual disability, moderate
5354	PLP1	HP:0002355	Difficulty walking
5354	PLP1	HP:0002356	Writer's cramp
5354	PLP1	HP:0002346	Head tremor
5354	PLP1	HP:0003677	Slowly progressive
5354	PLP1	HP:0002313	Spastic paraparesis
5354	PLP1	HP:0002314	Degeneration of the lateral corticospinal tracts
5354	PLP1	HP:0007108	Demyelinating peripheral neuropathy
5354	PLP1	HP:0002310	Orofacial dyskinesia
5354	PLP1	HP:0002305	Athetosis
5354	PLP1	HP:0003621	Juvenile onset
5354	PLP1	HP:0006855	Cerebellar vermis atrophy
5354	PLP1	HP:0006808	Cerebral hypomyelination
5354	PLP1	HP:0000639	Nystagmus
5354	PLP1	HP:0000648	Optic atrophy
5354	PLP1	HP:0011343	Moderate global developmental delay
5354	PLP1	HP:0011342	Mild global developmental delay
5354	PLP1	HP:0000666	Horizontal nystagmus
5354	PLP1	HP:0004322	Short stature
5354	PLP1	HP:0031954	Dystonic gait
5354	PLP1	HP:0004302	Functional motor deficit
5354	PLP1	HP:0031936	Delayed ability to walk
5354	PLP1	HP:0011400	Abnormal CNS myelination
5354	PLP1	HP:0000763	Sensory neuropathy
5354	PLP1	HP:0000762	Decreased nerve conduction velocity
5354	PLP1	HP:0000750	Delayed speech and language development
5354	PLP1	HP:0000741	Apathy
5354	PLP1	HP:0000716	Depression
5354	PLP1	HP:0011463	Childhood onset
5354	PLP1	HP:0012758	Neurodevelopmental delay
5354	PLP1	HP:0030784	Anomic aphasia
5354	PLP1	HP:0003134	Abnormality of peripheral nerve conduction
5354	PLP1	HP:0030890	Hyperintensity of cerebral white matter on MRI
5354	PLP1	HP:0003202	Skeletal muscle atrophy
5354	PLP1	HP:0003269	Sudanophilic leukodystrophy
5354	PLP1	HP:0001583	Rotary nystagmus
5354	PLP1	HP:0000252	Microcephaly
5354	PLP1	HP:0002878	Respiratory failure
5354	PLP1	HP:0001508	Failure to thrive
5354	PLP1	HP:0001510	Growth delay
5354	PLP1	HP:0006511	Laryngeal stridor
5354	PLP1	HP:0011096	Peripheral demyelination
5354	PLP1	HP:0030187	Titubation
5354	PLP1	HP:0000365	Hearing impairment
5354	PLP1	HP:0000316	Hypertelorism
5354	PLP1	HP:0005340	Spastic/hyperactive bladder
5354	PLP1	HP:0000490	Deeply set eye
5354	PLP1	HP:0012447	Abnormal myelination
5354	PLP1	HP:0001761	Pes cavus
5354	PLP1	HP:0000511	Vertical supranuclear gaze palsy
5354	PLP1	HP:0011203	EEG with abnormally slow frequencies
5357	PLS1	HP:0000006	Autosomal dominant inheritance
5357	PLS1	HP:0000407	Sensorineural hearing impairment
5357	PLS1	HP:0001751	Abnormal vestibular function
5361	PLXNA1	HP:0001274	Agenesis of corpus callosum
5361	PLXNA1	HP:0001250	Seizure
5361	PLXNA1	HP:0001263	Global developmental delay
5361	PLXNA1	HP:0000076	Vesicoureteral reflux
5361	PLXNA1	HP:0000007	Autosomal recessive inheritance
5361	PLXNA1	HP:0003477	Peripheral axonal neuropathy
5361	PLXNA1	HP:0009748	Large earlobe
5361	PLXNA1	HP:0002395	Lower limb hyperreflexia
5361	PLXNA1	HP:0003623	Neonatal onset
5361	PLXNA1	HP:0000639	Nystagmus
5361	PLXNA1	HP:0000691	Microdontia
5361	PLXNA1	HP:0006989	Dysplastic corpus callosum
5361	PLXNA1	HP:0000729	Autistic behavior
5361	PLXNA1	HP:0011463	Childhood onset
5361	PLXNA1	HP:0003236	Elevated circulating creatine kinase concentration
5361	PLXNA1	HP:0007766	Optic disc hypoplasia
5361	PLXNA1	HP:0000252	Microcephaly
5361	PLXNA1	HP:0030048	Colpocephaly
5361	PLXNA1	HP:0000378	Cupped ear
5361	PLXNA1	HP:0005338	Sparse lateral eyebrow
5361	PLXNA1	HP:0005280	Depressed nasal bridge
5361	PLXNA1	HP:0000486	Strabismus
5361	PLXNA1	HP:0000470	Short neck
5361	PLXNA1	HP:0000508	Ptosis
5361	PLXNA1	HP:0012583	Unilateral renal hypoplasia
5361	PLXNA1	HP:0012520	Dilation of Virchow-Robin spaces
5371	PML	HP:0031035	Chronic infection
5371	PML	HP:0031020	Bone marrow hypercellularity
5371	PML	HP:0001324	Muscle weakness
5371	PML	HP:0002653	Bone pain
5371	PML	HP:0025420	Diffuse alveolar hemorrhage
5371	PML	HP:0031245	Productive cough
5371	PML	HP:0002716	Lymphadenopathy
5371	PML	HP:0002027	Abdominal pain
5371	PML	HP:0030955	Alcoholism
5371	PML	HP:0002039	Anorexia
5371	PML	HP:0011900	Hypofibrinogenemia
5371	PML	HP:0100758	Gangrene
5371	PML	HP:0002321	Vertigo
5371	PML	HP:0100608	Metrorrhagia
5371	PML	HP:0005521	Disseminated intravascular coagulation
5371	PML	HP:0001974	Leukocytosis
5371	PML	HP:0001945	Fever
5371	PML	HP:0001903	Anemia
5371	PML	HP:0000790	Hematuria
5371	PML	HP:0010280	Stomatitis
5371	PML	HP:0000979	Purpura
5371	PML	HP:0000978	Bruising susceptibility
5371	PML	HP:0000967	Petechiae
5371	PML	HP:0000212	Gingival overgrowth
5371	PML	HP:0002875	Exertional dyspnea
5371	PML	HP:0000225	Gingival bleeding
5371	PML	HP:0031364	Ecchymosis
5371	PML	HP:0012378	Fatigue
5371	PML	HP:0030140	Oral cavity bleeding
5371	PML	HP:0000421	Epistaxis
5371	PML	HP:0001824	Weight loss
5371	PML	HP:0001892	Abnormal bleeding
5371	PML	HP:0001882	Leukopenia
5371	PML	HP:0001873	Thrombocytopenia
5371	PML	HP:0001876	Pancytopenia
5371	PML	HP:0001875	Neutropenia
5373	PMM2	HP:0002401	Stroke-like episode
5373	PMM2	HP:0100807	Long fingers
5373	PMM2	HP:0001272	Cerebellar atrophy
5373	PMM2	HP:0001271	Polyneuropathy
5373	PMM2	HP:0001284	Areflexia
5373	PMM2	HP:0001250	Seizure
5373	PMM2	HP:0001252	Hypotonia
5373	PMM2	HP:0001251	Ataxia
5373	PMM2	HP:0001249	Intellectual disability
5373	PMM2	HP:0001265	Hyporeflexia
5373	PMM2	HP:0001260	Dysarthria
5373	PMM2	HP:0001263	Global developmental delay
5373	PMM2	HP:0002570	Steatorrhea
5373	PMM2	HP:0008734	Decreased testicular size
5373	PMM2	HP:0003819	Death in childhood
5373	PMM2	HP:0000091	Abnormal renal tubule morphology
5373	PMM2	HP:0000093	Proteinuria
5373	PMM2	HP:0001397	Hepatic steatosis
5373	PMM2	HP:0001395	Hepatic fibrosis
5373	PMM2	HP:0012050	Anasarca
5373	PMM2	HP:0000044	Hypogonadotropic hypogonadism
5373	PMM2	HP:0001371	Flexion contracture
5373	PMM2	HP:0001388	Joint laxity
5373	PMM2	HP:0001347	Hyperreflexia
5373	PMM2	HP:0007552	Abnormal subcutaneous fat tissue distribution
5373	PMM2	HP:0008872	Feeding difficulties in infancy
5373	PMM2	HP:0001324	Muscle weakness
5373	PMM2	HP:0000007	Autosomal recessive inheritance
5373	PMM2	HP:0001337	Tremor
5373	PMM2	HP:0001310	Dysmetria
5373	PMM2	HP:0001305	Dandy-Walker malformation
5373	PMM2	HP:0001320	Cerebellar vermis hypoplasia
5373	PMM2	HP:0001321	Cerebellar hypoplasia
5373	PMM2	HP:0002625	Deep venous thrombosis
5373	PMM2	HP:0000154	Wide mouth
5373	PMM2	HP:0008936	Axial hypotonia
5373	PMM2	HP:0000114	Proximal tubulopathy
5373	PMM2	HP:0000100	Nephrotic syndrome
5373	PMM2	HP:0000107	Renal cyst
5373	PMM2	HP:0002751	Kyphoscoliosis
5373	PMM2	HP:0002720	Decreased circulating IgA level
5373	PMM2	HP:0002014	Diarrhea
5373	PMM2	HP:0002013	Vomiting
5373	PMM2	HP:0002080	Intention tremor
5373	PMM2	HP:0002098	Respiratory distress
5373	PMM2	HP:0008151	Prolonged prothrombin time
5373	PMM2	HP:0010463	Aplasia of the ovary
5373	PMM2	HP:0002197	Generalized-onset seizure
5373	PMM2	HP:0002198	Dilated fourth ventricle
5373	PMM2	HP:0002170	Intracranial hemorrhage
5373	PMM2	HP:0008209	Premature ovarian insufficiency
5373	PMM2	HP:0011858	Reduced factor IX activity
5373	PMM2	HP:0011842	Abnormal skeletal morphology
5373	PMM2	HP:0003593	Infantile onset
5373	PMM2	HP:0003577	Congenital onset
5373	PMM2	HP:0002240	Hepatomegaly
5373	PMM2	HP:0002280	Enlarged cisterna magna
5373	PMM2	HP:0011968	Feeding difficulties
5373	PMM2	HP:0011951	Aspiration pneumonia
5373	PMM2	HP:0020045	Esodeviation
5373	PMM2	HP:0001004	Lymphedema
5373	PMM2	HP:0003645	Prolonged partial thromboplastin time
5373	PMM2	HP:0009830	Peripheral neuropathy
5373	PMM2	HP:0003623	Neonatal onset
5373	PMM2	HP:0003642	Type I transferrin isoform profile
5373	PMM2	HP:0005562	Multiple renal cysts
5373	PMM2	HP:0000639	Nystagmus
5373	PMM2	HP:0001976	Reduced antithrombin III activity
5373	PMM2	HP:0001945	Fever
5373	PMM2	HP:0001929	Reduced factor XI activity
5373	PMM2	HP:0001999	Abnormal facial shape
5373	PMM2	HP:0004315	Decreased circulating IgG level
5373	PMM2	HP:0006955	Olivopontocerebellar hypoplasia
5373	PMM2	HP:0003073	Hypoalbuminemia
5373	PMM2	HP:0030609	Photoreceptor layer loss on macular OCT
5373	PMM2	HP:0000750	Delayed speech and language development
5373	PMM2	HP:0011473	Villous atrophy
5373	PMM2	HP:0011463	Childhood onset
5373	PMM2	HP:0011443	Abnormality of coordination
5373	PMM2	HP:0009125	Lipodystrophy
5373	PMM2	HP:0000926	Platyspondyly
5373	PMM2	HP:0003186	Inverted nipples
5373	PMM2	HP:0003146	Hypocholesterolemia
5373	PMM2	HP:0000855	Insulin resistance
5373	PMM2	HP:0000870	Increased circulating prolactin concentration
5373	PMM2	HP:0000845	Elevated circulating growth hormone concentration
5373	PMM2	HP:0000842	Hyperinsulinemia
5373	PMM2	HP:0000815	Hypergonadotropic hypogonadism
5373	PMM2	HP:0000821	Hypothyroidism
5373	PMM2	HP:0012882	Hyperplastic labia majora
5373	PMM2	HP:0040238	Impaired neutrophil chemotaxis
5373	PMM2	HP:0000969	Edema
5373	PMM2	HP:0000939	Osteoporosis
5373	PMM2	HP:0000938	Osteopenia
5373	PMM2	HP:0000286	Epicanthus
5373	PMM2	HP:0000278	Retrognathia
5373	PMM2	HP:0031404	Impaired antigen-specific response
5373	PMM2	HP:0000276	Long face
5373	PMM2	HP:0002828	Multiple joint contractures
5373	PMM2	HP:0002808	Kyphosis
5373	PMM2	HP:0000252	Microcephaly
5373	PMM2	HP:0000219	Thin upper lip vermilion
5373	PMM2	HP:0000218	High palate
5373	PMM2	HP:0001560	Abnormality of the amniotic fluid
5373	PMM2	HP:0001522	Death in infancy
5373	PMM2	HP:0001508	Failure to thrive
5373	PMM2	HP:0000377	Abnormal pinna morphology
5373	PMM2	HP:0007874	Almond-shaped palpebral fissure
5373	PMM2	HP:0002910	Elevated hepatic transaminase
5373	PMM2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
5373	PMM2	HP:0001698	Pericardial effusion
5373	PMM2	HP:0000343	Long philtrum
5373	PMM2	HP:0001681	Angina pectoris
5373	PMM2	HP:0000316	Hypertelorism
5373	PMM2	HP:0030146	Abnormal liver parenchyma morphology
5373	PMM2	HP:0001639	Hypertrophic cardiomyopathy
5373	PMM2	HP:0001638	Cardiomyopathy
5373	PMM2	HP:0000303	Mandibular prognathia
5373	PMM2	HP:0000400	Macrotia
5373	PMM2	HP:0001701	Pericarditis
5373	PMM2	HP:0005280	Depressed nasal bridge
5373	PMM2	HP:0000486	Strabismus
5373	PMM2	HP:0000463	Anteverted nares
5373	PMM2	HP:0001790	Nonimmune hydrops fetalis
5373	PMM2	HP:0012448	Delayed myelination
5373	PMM2	HP:0001763	Pes planus
5373	PMM2	HP:0000448	Prominent nose
5373	PMM2	HP:0000426	Prominent nasal bridge
5373	PMM2	HP:0012509	Reduced thyroxin-binding globulin
5373	PMM2	HP:0000518	Cataract
5373	PMM2	HP:0000510	Rod-cone dystrophy
5373	PMM2	HP:0000582	Upslanted palpebral fissure
5373	PMM2	HP:0001894	Thrombocytosis
5373	PMM2	HP:0011220	Prominent forehead
5373	PMM2	HP:0000565	Esotropia
5373	PMM2	HP:0000545	Myopia
5375	PMP2	HP:0002460	Distal muscle weakness
5375	PMP2	HP:0007328	Impaired pain sensation
5375	PMP2	HP:0000006	Autosomal dominant inheritance
5375	PMP2	HP:0003376	Steppage gait
5375	PMP2	HP:0003383	Onion bulb formation
5375	PMP2	HP:0003487	Babinski sign
5375	PMP2	HP:0003438	Absent Achilles reflex
5375	PMP2	HP:0033383	Decreased compound muscle action potential amplitude
5375	PMP2	HP:0003693	Distal amyotrophy
5375	PMP2	HP:0002359	Frequent falls
5375	PMP2	HP:0002378	Hand tremor
5375	PMP2	HP:0002355	Difficulty walking
5375	PMP2	HP:0003677	Slowly progressive
5375	PMP2	HP:0003621	Juvenile onset
5375	PMP2	HP:0006844	Absent patellar reflexes
5375	PMP2	HP:0006886	Impaired distal vibration sensation
5375	PMP2	HP:0009053	Distal lower limb muscle weakness
5375	PMP2	HP:0011096	Peripheral demyelination
5375	PMP2	HP:0002936	Distal sensory impairment
5375	PMP2	HP:0001765	Hammertoe
5375	PMP2	HP:0001761	Pes cavus
5375	PMP2	HP:0025708	Early young adult onset
5375	PMP2	HP:0012548	Fatty replacement of skeletal muscle
5376	PMP22	HP:0001178	Ulnar claw
5376	PMP22	HP:0001171	Split hand
5376	PMP22	HP:0002495	Impaired vibratory sensation
5376	PMP22	HP:0002460	Distal muscle weakness
5376	PMP22	HP:0007328	Impaired pain sensation
5376	PMP22	HP:0009916	Anisocoria
5376	PMP22	HP:0010871	Sensory ataxia
5376	PMP22	HP:0003701	Proximal muscle weakness
5376	PMP22	HP:0001290	Generalized hypotonia
5376	PMP22	HP:0001270	Motor delay
5376	PMP22	HP:0001288	Gait disturbance
5376	PMP22	HP:0001284	Areflexia
5376	PMP22	HP:0001252	Hypotonia
5376	PMP22	HP:0001265	Hyporeflexia
5376	PMP22	HP:0001263	Global developmental delay
5376	PMP22	HP:0007351	Upper limb postural tremor
5376	PMP22	HP:0007340	Lower limb muscle weakness
5376	PMP22	HP:0002540	Inability to walk
5376	PMP22	HP:0002522	Areflexia of lower limbs
5376	PMP22	HP:0003828	Variable expressivity
5376	PMP22	HP:0033660	Hand paresthesia
5376	PMP22	HP:0031006	Acroparesthesia
5376	PMP22	HP:0012074	Tonic pupil
5376	PMP22	HP:0031162	Impaired oropharyngeal swallow response
5376	PMP22	HP:0001324	Muscle weakness
5376	PMP22	HP:0000007	Autosomal recessive inheritance
5376	PMP22	HP:0000006	Autosomal dominant inheritance
5376	PMP22	HP:0033748	Hypoesthesia
5376	PMP22	HP:0001308	Tongue fasciculations
5376	PMP22	HP:0002650	Scoliosis
5376	PMP22	HP:0002600	Hyporeflexia of lower limbs
5376	PMP22	HP:0008981	Calf muscle hypertrophy
5376	PMP22	HP:0008962	Calf muscle hypoplasia
5376	PMP22	HP:0008954	Intrinsic hand muscle atrophy
5376	PMP22	HP:0008944	Distal lower limb amyotrophy
5376	PMP22	HP:0002751	Kyphoscoliosis
5376	PMP22	HP:0002715	Abnormality of the immune system
5376	PMP22	HP:0002093	Respiratory insufficiency
5376	PMP22	HP:0002066	Gait ataxia
5376	PMP22	HP:0002070	Limb ataxia
5376	PMP22	HP:0003376	Steppage gait
5376	PMP22	HP:0003383	Onion bulb formation
5376	PMP22	HP:0003382	Hypertrophic nerve changes
5376	PMP22	HP:0003380	Decreased number of peripheral myelinated nerve fibers
5376	PMP22	HP:0008124	Talipes calcaneovarus
5376	PMP22	HP:0008110	Equinovarus deformity
5376	PMP22	HP:0011727	Peroneal muscle weakness
5376	PMP22	HP:0009473	Joint contracture of the hand
5376	PMP22	HP:0003474	Somatic sensory dysfunction
5376	PMP22	HP:0002141	Gait imbalance
5376	PMP22	HP:0003487	Babinski sign
5376	PMP22	HP:0003481	Segmental peripheral demyelination/remyelination
5376	PMP22	HP:0003448	Decreased sensory nerve conduction velocity
5376	PMP22	HP:0003449	Cold-induced muscle cramps
5376	PMP22	HP:0002136	Broad-based gait
5376	PMP22	HP:0003431	Decreased motor nerve conduction velocity
5376	PMP22	HP:0003445	EMG: neuropathic changes
5376	PMP22	HP:0002166	Impaired vibration sensation in the lower limbs
5376	PMP22	HP:0002174	Postural tremor
5376	PMP22	HP:0002172	Postural instability
5376	PMP22	HP:0003401	Paresthesia
5376	PMP22	HP:0003593	Infantile onset
5376	PMP22	HP:0003587	Insidious onset
5376	PMP22	HP:0003693	Distal amyotrophy
5376	PMP22	HP:0003690	Limb muscle weakness
5376	PMP22	HP:0002359	Frequent falls
5376	PMP22	HP:0002345	Action tremor
5376	PMP22	HP:0002355	Difficulty walking
5376	PMP22	HP:0003677	Slowly progressive
5376	PMP22	HP:0002317	Unsteady gait
5376	PMP22	HP:0010830	Impaired tactile sensation
5376	PMP22	HP:0010833	Spontaneous pain sensation
5376	PMP22	HP:0010832	Abnormality of pain sensation
5376	PMP22	HP:0010829	Impaired temperature sensation
5376	PMP22	HP:0009830	Peripheral neuropathy
5376	PMP22	HP:0032121	Froment sign
5376	PMP22	HP:0007141	Sensorimotor neuropathy
5376	PMP22	HP:0007131	Acute demyelinating polyneuropathy
5376	PMP22	HP:0007108	Demyelinating peripheral neuropathy
5376	PMP22	HP:0002312	Clumsiness
5376	PMP22	HP:0002307	Drooling
5376	PMP22	HP:0003621	Juvenile onset
5376	PMP22	HP:0006824	Cranial nerve paralysis
5376	PMP22	HP:0006801	Hyperactive deep tendon reflexes
5376	PMP22	HP:0006886	Impaired distal vibration sensation
5376	PMP22	HP:0000639	Nystagmus
5376	PMP22	HP:0000615	Abnormal pupil morphology
5376	PMP22	HP:0001954	Recurrent fever
5376	PMP22	HP:0009053	Distal lower limb muscle weakness
5376	PMP22	HP:0009049	Peroneal muscle atrophy
5376	PMP22	HP:0009027	Foot dorsiflexor weakness
5376	PMP22	HP:0004336	Myelin outfoldings
5376	PMP22	HP:0012735	Cough
5376	PMP22	HP:0000762	Decreased nerve conduction velocity
5376	PMP22	HP:0011476	Profound sensorineural hearing impairment
5376	PMP22	HP:0011463	Childhood onset
5376	PMP22	HP:0011462	Young adult onset
5376	PMP22	HP:0009130	Hand muscle atrophy
5376	PMP22	HP:0009113	Diaphragmatic weakness
5376	PMP22	HP:0003202	Skeletal muscle atrophy
5376	PMP22	HP:0030834	Shoulder pain
5376	PMP22	HP:0002857	Genu valgum
5376	PMP22	HP:0002839	Urinary bladder sphincter dysfunction
5376	PMP22	HP:0011096	Peripheral demyelination
5376	PMP22	HP:0012391	Hyporeflexia of upper limbs
5376	PMP22	HP:0001608	Abnormality of the voice
5376	PMP22	HP:0002936	Distal sensory impairment
5376	PMP22	HP:0001605	Vocal cord paralysis
5376	PMP22	HP:0002922	Increased CSF protein concentration
5376	PMP22	HP:0000365	Hearing impairment
5376	PMP22	HP:0000360	Tinnitus
5376	PMP22	HP:0030175	Myelin tomacula
5376	PMP22	HP:0005335	Sleepy facial expression
5376	PMP22	HP:0000407	Sensorineural hearing impairment
5376	PMP22	HP:0030211	Slow pupillary light response
5376	PMP22	HP:0030237	Hand muscle weakness
5376	PMP22	HP:0001763	Pes planus
5376	PMP22	HP:0001765	Hammertoe
5376	PMP22	HP:0001762	Talipes equinovarus
5376	PMP22	HP:0001761	Pes cavus
5376	PMP22	HP:0001884	Talipes calcaneovalgus
5376	PMP22	HP:0012534	Dysesthesia
5378	PMS1	HP:0001123	Visual field defect
5378	PMS1	HP:0007256	Abnormal pyramidal sign
5378	PMS1	HP:0001276	Hypertonia
5378	PMS1	HP:0001288	Gait disturbance
5378	PMS1	HP:0100835	Benign neoplasm of the central nervous system
5378	PMS1	HP:0001250	Seizure
5378	PMS1	HP:0001252	Hypotonia
5378	PMS1	HP:0001260	Dysarthria
5378	PMS1	HP:0002516	Increased intracranial pressure
5378	PMS1	HP:0001371	Flexion contracture
5378	PMS1	HP:0002671	Basal cell carcinoma
5378	PMS1	HP:0000006	Autosomal dominant inheritance
5378	PMS1	HP:0012174	Glioblastoma multiforme
5378	PMS1	HP:0001402	Hepatocellular carcinoma
5378	PMS1	HP:0002024	Malabsorption
5378	PMS1	HP:0002019	Constipation
5378	PMS1	HP:0002017	Nausea and vomiting
5378	PMS1	HP:0002027	Abdominal pain
5378	PMS1	HP:0002076	Migraine
5378	PMS1	HP:0100571	Cardiac diverticulum
5378	PMS1	HP:0100576	Amaurosis fugax
5378	PMS1	HP:0002167	Abnormality of speech or vocalization
5378	PMS1	HP:0010526	Dysgraphia
5378	PMS1	HP:0010524	Agnosia
5378	PMS1	HP:0003401	Paresthesia
5378	PMS1	HP:0002239	Gastrointestinal hemorrhage
5378	PMS1	HP:0100743	Neoplasm of the rectum
5378	PMS1	HP:0007018	Attention deficit hyperactivity disorder
5378	PMS1	HP:0010622	Neoplasm of the skeletal system
5378	PMS1	HP:0002376	Developmental regression
5378	PMS1	HP:0002354	Memory impairment
5378	PMS1	HP:0100660	Dyskinesia
5378	PMS1	HP:0200008	Intestinal polyposis
5378	PMS1	HP:0100615	Ovarian neoplasm
5378	PMS1	HP:0100613	Death in early adulthood
5378	PMS1	HP:0010786	Urinary tract neoplasm
5378	PMS1	HP:0003003	Colon cancer
5378	PMS1	HP:0004374	Hemiplegia/hemiparesis
5378	PMS1	HP:0003006	Neuroblastoma
5378	PMS1	HP:0100031	Neoplasm of the thyroid gland
5378	PMS1	HP:0000738	Hallucinations
5378	PMS1	HP:0000737	Irritability
5378	PMS1	HP:0000739	Anxiety
5378	PMS1	HP:0000716	Depression
5378	PMS1	HP:0000708	Atypical behavior
5378	PMS1	HP:0002894	Neoplasm of the pancreas
5378	PMS1	HP:0002893	Pituitary adenoma
5378	PMS1	HP:0001522	Death in infancy
5378	PMS1	HP:0012378	Fatigue
5378	PMS1	HP:0006725	Pancreatic adenocarcinoma
5378	PMS1	HP:0001824	Weight loss
5378	PMS1	HP:0000505	Visual impairment
5393	EXOSC9	HP:0001181	Adducted thumb
5393	EXOSC9	HP:0025116	Fetal distress
5393	EXOSC9	HP:0002421	Poor head control
5393	EXOSC9	HP:0003700	Generalized amyotrophy
5393	EXOSC9	HP:0001290	Generalized hypotonia
5393	EXOSC9	HP:0001272	Cerebellar atrophy
5393	EXOSC9	HP:0001270	Motor delay
5393	EXOSC9	HP:0001250	Seizure
5393	EXOSC9	HP:0001252	Hypotonia
5393	EXOSC9	HP:0001251	Ataxia
5393	EXOSC9	HP:0001265	Hyporeflexia
5393	EXOSC9	HP:0001263	Global developmental delay
5393	EXOSC9	HP:0001257	Spasticity
5393	EXOSC9	HP:0007360	Aplasia/Hypoplasia of the cerebellum
5393	EXOSC9	HP:0001371	Flexion contracture
5393	EXOSC9	HP:0001348	Brisk reflexes
5393	EXOSC9	HP:0001347	Hyperreflexia
5393	EXOSC9	HP:0033725	Thin corpus callosum
5393	EXOSC9	HP:0001324	Muscle weakness
5393	EXOSC9	HP:0000007	Autosomal recessive inheritance
5393	EXOSC9	HP:0001308	Tongue fasciculations
5393	EXOSC9	HP:0008936	Axial hypotonia
5393	EXOSC9	HP:0012110	Hypoplasia of the pons
5393	EXOSC9	HP:0003324	Generalized muscle weakness
5393	EXOSC9	HP:0002093	Respiratory insufficiency
5393	EXOSC9	HP:0002059	Cerebral atrophy
5393	EXOSC9	HP:0003477	Peripheral axonal neuropathy
5393	EXOSC9	HP:0002120	Cerebral cortical atrophy
5393	EXOSC9	HP:0003577	Congenital onset
5393	EXOSC9	HP:0004886	Congenital laryngeal stridor
5393	EXOSC9	HP:0002205	Recurrent respiratory infections
5393	EXOSC9	HP:0200136	Oral-pharyngeal dysphagia
5393	EXOSC9	HP:0007002	Motor axonal neuropathy
5393	EXOSC9	HP:0011968	Feeding difficulties
5393	EXOSC9	HP:0002380	Fasciculations
5393	EXOSC9	HP:0002398	Degeneration of anterior horn cells
5393	EXOSC9	HP:0003676	Progressive
5393	EXOSC9	HP:0002350	Cerebellar cyst
5393	EXOSC9	HP:0000640	Gaze-evoked nystagmus
5393	EXOSC9	HP:0000639	Nystagmus
5393	EXOSC9	HP:0000648	Optic atrophy
5393	EXOSC9	HP:0001999	Abnormal facial shape
5393	EXOSC9	HP:0000666	Horizontal nystagmus
5393	EXOSC9	HP:0006934	Congenital nystagmus
5393	EXOSC9	HP:0011461	Fetal onset
5393	EXOSC9	HP:0003202	Skeletal muscle atrophy
5393	EXOSC9	HP:0000286	Epicanthus
5393	EXOSC9	HP:0002828	Multiple joint contractures
5393	EXOSC9	HP:0002804	Arthrogryposis multiplex congenita
5393	EXOSC9	HP:0000253	Progressive microcephaly
5393	EXOSC9	HP:0000252	Microcephaly
5393	EXOSC9	HP:0002878	Respiratory failure
5393	EXOSC9	HP:0000218	High palate
5393	EXOSC9	HP:0001562	Oligohydramnios
5393	EXOSC9	HP:0001558	Decreased fetal movement
5393	EXOSC9	HP:0001508	Failure to thrive
5393	EXOSC9	HP:0001511	Intrauterine growth retardation
5393	EXOSC9	HP:0012389	Appendicular hypotonia
5393	EXOSC9	HP:0001612	Weak cry
5393	EXOSC9	HP:0000369	Low-set ears
5393	EXOSC9	HP:0000316	Hypertelorism
5393	EXOSC9	HP:0000486	Strabismus
5393	EXOSC9	HP:0000470	Short neck
5393	EXOSC9	HP:0000529	Progressive visual loss
5393	EXOSC9	HP:0000565	Esotropia
5395	PMS2	HP:0001123	Visual field defect
5395	PMS2	HP:0007256	Abnormal pyramidal sign
5395	PMS2	HP:0001276	Hypertonia
5395	PMS2	HP:0001274	Agenesis of corpus callosum
5395	PMS2	HP:0001288	Gait disturbance
5395	PMS2	HP:0100835	Benign neoplasm of the central nervous system
5395	PMS2	HP:0001250	Seizure
5395	PMS2	HP:0001252	Hypotonia
5395	PMS2	HP:0001260	Dysarthria
5395	PMS2	HP:0002516	Increased intracranial pressure
5395	PMS2	HP:0001371	Flexion contracture
5395	PMS2	HP:0007565	Multiple cafe-au-lait spots
5395	PMS2	HP:0002671	Basal cell carcinoma
5395	PMS2	HP:0000007	Autosomal recessive inheritance
5395	PMS2	HP:0000006	Autosomal dominant inheritance
5395	PMS2	HP:0012174	Glioblastoma multiforme
5395	PMS2	HP:0012114	Endometrial carcinoma
5395	PMS2	HP:0001402	Hepatocellular carcinoma
5395	PMS2	HP:0002024	Malabsorption
5395	PMS2	HP:0002019	Constipation
5395	PMS2	HP:0002017	Nausea and vomiting
5395	PMS2	HP:0002027	Abdominal pain
5395	PMS2	HP:0002076	Migraine
5395	PMS2	HP:0100571	Cardiac diverticulum
5395	PMS2	HP:0100576	Amaurosis fugax
5395	PMS2	HP:0002167	Abnormality of speech or vocalization
5395	PMS2	HP:0010526	Dysgraphia
5395	PMS2	HP:0010524	Agnosia
5395	PMS2	HP:0003401	Paresthesia
5395	PMS2	HP:0009592	Astrocytoma
5395	PMS2	HP:0002239	Gastrointestinal hemorrhage
5395	PMS2	HP:0002282	Gray matter heterotopia
5395	PMS2	HP:0100743	Neoplasm of the rectum
5395	PMS2	HP:0007018	Attention deficit hyperactivity disorder
5395	PMS2	HP:0010622	Neoplasm of the skeletal system
5395	PMS2	HP:0002376	Developmental regression
5395	PMS2	HP:0002354	Memory impairment
5395	PMS2	HP:0100660	Dyskinesia
5395	PMS2	HP:0200008	Intestinal polyposis
5395	PMS2	HP:0100615	Ovarian neoplasm
5395	PMS2	HP:0100613	Death in early adulthood
5395	PMS2	HP:0010786	Urinary tract neoplasm
5395	PMS2	HP:0003003	Colon cancer
5395	PMS2	HP:0004374	Hemiplegia/hemiparesis
5395	PMS2	HP:0003006	Neuroblastoma
5395	PMS2	HP:0100031	Neoplasm of the thyroid gland
5395	PMS2	HP:0000738	Hallucinations
5395	PMS2	HP:0000737	Irritability
5395	PMS2	HP:0000739	Anxiety
5395	PMS2	HP:0000716	Depression
5395	PMS2	HP:0000708	Atypical behavior
5395	PMS2	HP:0002894	Neoplasm of the pancreas
5395	PMS2	HP:0002893	Pituitary adenoma
5395	PMS2	HP:0001522	Death in infancy
5395	PMS2	HP:0012378	Fatigue
5395	PMS2	HP:0005227	Adenomatous colonic polyposis
5395	PMS2	HP:0006725	Pancreatic adenocarcinoma
5395	PMS2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
5395	PMS2	HP:0001824	Weight loss
5395	PMS2	HP:0000505	Visual impairment
5395	PMS2	HP:0012539	Non-Hodgkin lymphoma
5396	PRRX1	HP:0009939	Mandibular aplasia
5396	PRRX1	HP:0009914	Cyclopia
5396	PRRX1	HP:0009924	Aplasia/Hypoplasia involving the nose
5396	PRRX1	HP:0001291	Abnormal cranial nerve morphology
5396	PRRX1	HP:0001274	Agenesis of corpus callosum
5396	PRRX1	HP:0008749	Laryngeal hypoplasia
5396	PRRX1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5396	PRRX1	HP:0008736	Hypoplasia of penis
5396	PRRX1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
5396	PRRX1	HP:0001360	Holoprosencephaly
5396	PRRX1	HP:0000007	Autosomal recessive inheritance
5396	PRRX1	HP:0000006	Autosomal dominant inheritance
5396	PRRX1	HP:0000160	Narrow mouth
5396	PRRX1	HP:0000175	Cleft palate
5396	PRRX1	HP:0000171	Microglossia
5396	PRRX1	HP:0002779	Tracheomalacia
5396	PRRX1	HP:0002089	Pulmonary hypoplasia
5396	PRRX1	HP:0002098	Respiratory distress
5396	PRRX1	HP:0100596	Absent nares
5396	PRRX1	HP:0100663	Synotia
5396	PRRX1	HP:0011386	Narrow internal auditory canal
5396	PRRX1	HP:0012730	Aglossia
5396	PRRX1	HP:0011461	Fetal onset
5396	PRRX1	HP:0001561	Polyhydramnios
5396	PRRX1	HP:0001696	Situs inversus totalis
5396	PRRX1	HP:0000369	Low-set ears
5396	PRRX1	HP:0000368	Low-set, posteriorly rotated ears
5396	PRRX1	HP:0001684	Secundum atrial septal defect
5396	PRRX1	HP:0000347	Micrognathia
5396	PRRX1	HP:0005349	Hypoplasia of the epiglottis
5396	PRRX1	HP:0000405	Conductive hearing impairment
5396	PRRX1	HP:0000478	Abnormality of the eye
5396	PRRX1	HP:0000494	Downslanted palpebral fissures
5396	PRRX1	HP:0000445	Wide nose
5406	PNLIP	HP:0002570	Steatorrhea
5406	PNLIP	HP:0000007	Autosomal recessive inheritance
5406	PNLIP	HP:0002630	Fat malabsorption
5406	PNLIP	HP:0045014	Hypolipidemia
5420	PODXL	HP:0007311	Short stepped shuffling gait
5420	PODXL	HP:0007256	Abnormal pyramidal sign
5420	PODXL	HP:0002425	Anarthria
5420	PODXL	HP:0025269	Panic attack
5420	PODXL	HP:0001250	Seizure
5420	PODXL	HP:0001249	Intellectual disability
5420	PODXL	HP:0002578	Gastroparesis
5420	PODXL	HP:0001265	Hyporeflexia
5420	PODXL	HP:0001257	Spasticity
5420	PODXL	HP:0002540	Inability to walk
5420	PODXL	HP:0001347	Hyperreflexia
5420	PODXL	HP:0001332	Dystonia
5420	PODXL	HP:0001337	Tremor
5420	PODXL	HP:0001336	Myoclonus
5420	PODXL	HP:0002650	Scoliosis
5420	PODXL	HP:0008969	Leg muscle stiffness
5420	PODXL	HP:0002018	Nausea
5420	PODXL	HP:0002019	Constipation
5420	PODXL	HP:0040307	Male sexual dysfunction
5420	PODXL	HP:0002014	Diarrhea
5420	PODXL	HP:0100543	Cognitive impairment
5420	PODXL	HP:0002067	Bradykinesia
5420	PODXL	HP:0002066	Gait ataxia
5420	PODXL	HP:0003394	Muscle spasm
5420	PODXL	HP:0002063	Rigidity
5420	PODXL	HP:0002141	Gait imbalance
5420	PODXL	HP:0002172	Postural instability
5420	PODXL	HP:0100710	Impulsivity
5420	PODXL	HP:0100785	Insomnia
5420	PODXL	HP:0002362	Shuffling gait
5420	PODXL	HP:0002322	Resting tremor
5420	PODXL	HP:0100660	Dyskinesia
5420	PODXL	HP:0007164	Slowed slurred speech
5420	PODXL	HP:0002304	Akinesia
5420	PODXL	HP:0000651	Diplopia
5420	PODXL	HP:0012638	Abnormal nervous system physiology
5420	PODXL	HP:0004305	Involuntary movements
5420	PODXL	HP:0100022	Abnormality of movement
5420	PODXL	HP:0000738	Hallucinations
5420	PODXL	HP:0000739	Anxiety
5420	PODXL	HP:0000736	Short attention span
5420	PODXL	HP:0000735	Impaired social interactions
5420	PODXL	HP:0000741	Apathy
5420	PODXL	HP:0000716	Depression
5420	PODXL	HP:0000713	Agitation
5420	PODXL	HP:0000727	Frontal lobe dementia
5420	PODXL	HP:0000726	Dementia
5420	PODXL	HP:0004409	Hyposmia
5420	PODXL	HP:0030014	Female sexual dysfunction
5420	PODXL	HP:0012378	Fatigue
5420	PODXL	HP:0012332	Abnormal autonomic nervous system physiology
5420	PODXL	HP:0000338	Hypomimic face
5420	PODXL	HP:0001621	Weak voice
5420	PODXL	HP:0012444	Brain atrophy
5420	PODXL	HP:0012452	Restless legs
5420	PODXL	HP:0001761	Pes cavus
5420	PODXL	HP:0000551	Color vision defect
5422	POLA1	HP:0100962	Shyness
5422	POLA1	HP:0010882	Pulmonary valve atresia
5422	POLA1	HP:0008551	Microtia
5422	POLA1	HP:0001272	Cerebellar atrophy
5422	POLA1	HP:0001256	Intellectual disability, mild
5422	POLA1	HP:0001250	Seizure
5422	POLA1	HP:0002583	Colitis
5422	POLA1	HP:0001252	Hypotonia
5422	POLA1	HP:0001249	Intellectual disability
5422	POLA1	HP:0001263	Global developmental delay
5422	POLA1	HP:0001257	Spasticity
5422	POLA1	HP:0002575	Tracheoesophageal fistula
5422	POLA1	HP:0008757	Unilateral vocal cord paralysis
5422	POLA1	HP:0008734	Decreased testicular size
5422	POLA1	HP:0001217	Clubbing
5422	POLA1	HP:0000044	Hypogonadotropic hypogonadism
5422	POLA1	HP:0000026	Male hypogonadism
5422	POLA1	HP:0000028	Cryptorchidism
5422	POLA1	HP:0002650	Scoliosis
5422	POLA1	HP:0000193	Bifid uvula
5422	POLA1	HP:0000154	Wide mouth
5422	POLA1	HP:0007599	Generalized reticulate brown pigmentation
5422	POLA1	HP:0007588	Reticular hyperpigmentation
5422	POLA1	HP:0002750	Delayed skeletal maturation
5422	POLA1	HP:0001419	X-linked recessive inheritance
5422	POLA1	HP:0002719	Recurrent infections
5422	POLA1	HP:0002714	Downturned corners of mouth
5422	POLA1	HP:0002032	Esophageal atresia
5422	POLA1	HP:0002028	Chronic diarrhea
5422	POLA1	HP:0005978	Type II diabetes mellitus
5422	POLA1	HP:0033178	Increased circulating interleukin 8 concentration
5422	POLA1	HP:0002059	Cerebral atrophy
5422	POLA1	HP:0008187	Absence of secondary sex characteristics
5422	POLA1	HP:0002110	Bronchiectasis
5422	POLA1	HP:0033253	Reduced circulating interferon gamma concentration
5422	POLA1	HP:0003577	Congenital onset
5422	POLA1	HP:0002236	Frontal upsweep of hair
5422	POLA1	HP:0100710	Impulsivity
5422	POLA1	HP:0007018	Attention deficit hyperactivity disorder
5422	POLA1	HP:0011968	Feeding difficulties
5422	POLA1	HP:0004209	Clinodactyly of the 5th finger
5422	POLA1	HP:0000613	Photophobia
5422	POLA1	HP:0012646	Retractile testis
5422	POLA1	HP:0004322	Short stature
5422	POLA1	HP:0012745	Short palpebral fissure
5422	POLA1	HP:0000735	Impaired social interactions
5422	POLA1	HP:0000729	Autistic behavior
5422	POLA1	HP:0011463	Childhood onset
5422	POLA1	HP:0004440	Coronal craniosynostosis
5422	POLA1	HP:0004415	Pulmonary artery stenosis
5422	POLA1	HP:0003196	Short nose
5422	POLA1	HP:0000837	Increased circulating gonadotropin level
5422	POLA1	HP:0000815	Hypergonadotropic hypogonadism
5422	POLA1	HP:0003298	Spina bifida occulta
5422	POLA1	HP:0000965	Cutis marmorata
5422	POLA1	HP:0000966	Hypohidrosis
5422	POLA1	HP:0000960	Sacral dimple
5422	POLA1	HP:0000962	Hyperkeratosis
5422	POLA1	HP:0005819	Short middle phalanx of finger
5422	POLA1	HP:0040171	Decreased serum testosterone concentration
5422	POLA1	HP:0000278	Retrognathia
5422	POLA1	HP:0000276	Long face
5422	POLA1	HP:0012227	Urethral stricture
5422	POLA1	HP:0000252	Microcephaly
5422	POLA1	HP:0001531	Failure to thrive in infancy
5422	POLA1	HP:0001508	Failure to thrive
5422	POLA1	HP:0001511	Intrauterine growth retardation
5422	POLA1	HP:0001510	Growth delay
5422	POLA1	HP:0006532	Recurrent pneumonia
5422	POLA1	HP:0012309	Cutaneous amyloidosis
5422	POLA1	HP:0001629	Ventricular septal defect
5422	POLA1	HP:0001631	Atrial septal defect
5422	POLA1	HP:0005280	Depressed nasal bridge
5422	POLA1	HP:0000411	Protruding ear
5422	POLA1	HP:0000505	Visual impairment
5422	POLA1	HP:0000582	Upslanted palpebral fissure
5422	POLA1	HP:0011229	Broad eyebrow
5422	POLA1	HP:0000586	Shallow orbits
5422	POLA1	HP:0000559	Corneal scarring
5422	POLA1	HP:0000572	Visual loss
5422	POLA1	HP:0000565	Esotropia
5424	POLD1	HP:0001397	Hepatic steatosis
5424	POLD1	HP:0000026	Male hypogonadism
5424	POLD1	HP:0000028	Cryptorchidism
5424	POLD1	HP:0000006	Autosomal dominant inheritance
5424	POLD1	HP:0002650	Scoliosis
5424	POLD1	HP:0000160	Narrow mouth
5424	POLD1	HP:0012114	Endometrial carcinoma
5424	POLD1	HP:0100585	Telangiectasia of the skin
5424	POLD1	HP:0040276	Adenocarcinoma of the colon
5424	POLD1	HP:0002155	Hypertriglyceridemia
5424	POLD1	HP:0002240	Hepatomegaly
5424	POLD1	HP:0003581	Adult onset
5424	POLD1	HP:0100743	Neoplasm of the rectum
5424	POLD1	HP:0100679	Lack of skin elasticity
5424	POLD1	HP:0200063	Colorectal polyposis
5424	POLD1	HP:0003635	Loss of subcutaneous adipose tissue in limbs
5424	POLD1	HP:0000678	Dental crowding
5424	POLD1	HP:0003002	Breast carcinoma
5424	POLD1	HP:0004334	Dermal atrophy
5424	POLD1	HP:0031964	Elevated circulating alanine aminotransferase concentration
5424	POLD1	HP:0030692	Brain neoplasm
5424	POLD1	HP:0009125	Lipodystrophy
5424	POLD1	HP:0000855	Insulin resistance
5424	POLD1	HP:0000819	Diabetes mellitus
5424	POLD1	HP:0034392	Joint contracture
5424	POLD1	HP:0000939	Osteoporosis
5424	POLD1	HP:0002808	Kyphosis
5424	POLD1	HP:0005227	Adenomatous colonic polyposis
5424	POLD1	HP:0002910	Elevated hepatic transaminase
5424	POLD1	HP:0000347	Micrognathia
5424	POLD1	HP:0000320	Bird-like facies
5424	POLD1	HP:0001620	High pitched voice
5424	POLD1	HP:0000407	Sensorineural hearing impairment
5424	POLD1	HP:0000444	Convex nasal ridge
5424	POLD1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
5424	POLD1	HP:0000520	Proptosis
5426	POLE	HP:0008551	Microtia
5426	POLE	HP:0001250	Seizure
5426	POLE	HP:0001252	Hypotonia
5426	POLE	HP:0007421	Telangiectases of the cheeks
5426	POLE	HP:0008689	Bilateral cryptorchidism
5426	POLE	HP:0000078	Abnormality of the genital system
5426	POLE	HP:0000054	Micropenis
5426	POLE	HP:0000047	Hypospadias
5426	POLE	HP:0033832	Livedo
5426	POLE	HP:0000028	Cryptorchidism
5426	POLE	HP:0000007	Autosomal recessive inheritance
5426	POLE	HP:0000006	Autosomal dominant inheritance
5426	POLE	HP:0002653	Bone pain
5426	POLE	HP:0002650	Scoliosis
5426	POLE	HP:0012190	T-cell lymphoma
5426	POLE	HP:0012189	Hodgkin lymphoma
5426	POLE	HP:0000135	Hypogonadism
5426	POLE	HP:0012114	Endometrial carcinoma
5426	POLE	HP:0002783	Recurrent lower respiratory tract infections
5426	POLE	HP:0002788	Recurrent upper respiratory tract infections
5426	POLE	HP:0000126	Hydronephrosis
5426	POLE	HP:0002719	Recurrent infections
5426	POLE	HP:0002721	Immunodeficiency
5426	POLE	HP:0002007	Frontal bossing
5426	POLE	HP:0040276	Adenocarcinoma of the colon
5426	POLE	HP:0002110	Bronchiectasis
5426	POLE	HP:0008244	Congenital adrenal hypoplasia
5426	POLE	HP:0003593	Infantile onset
5426	POLE	HP:0003577	Congenital onset
5426	POLE	HP:0003581	Adult onset
5426	POLE	HP:0100743	Neoplasm of the rectum
5426	POLE	HP:0011968	Feeding difficulties
5426	POLE	HP:0003510	Severe short stature
5426	POLE	HP:0200063	Colorectal polyposis
5426	POLE	HP:0003623	Neonatal onset
5426	POLE	HP:0003621	Juvenile onset
5426	POLE	HP:0004325	Decreased body weight
5426	POLE	HP:0004322	Short stature
5426	POLE	HP:0003002	Breast carcinoma
5426	POLE	HP:0030692	Brain neoplasm
5426	POLE	HP:0011463	Childhood onset
5426	POLE	HP:0030731	Carcinoma
5426	POLE	HP:0003189	Long nose
5426	POLE	HP:0004482	Relative macrocephaly
5426	POLE	HP:0000835	Adrenal hypoplasia
5426	POLE	HP:0000824	Decreased response to growth hormone stimulation test
5426	POLE	HP:0100255	Metaphyseal dysplasia
5426	POLE	HP:0000957	Cafe-au-lait spot
5426	POLE	HP:0000964	Eczema
5426	POLE	HP:0000938	Osteopenia
5426	POLE	HP:0000272	Malar flattening
5426	POLE	HP:0030084	Clinodactyly
5426	POLE	HP:0000252	Microcephaly
5426	POLE	HP:0031367	Metaphyseal striations
5426	POLE	HP:0002850	Decreased circulating total IgM
5426	POLE	HP:0001511	Intrauterine growth retardation
5426	POLE	HP:0005227	Adenomatous colonic polyposis
5426	POLE	HP:0000358	Posteriorly rotated ears
5426	POLE	HP:0000369	Low-set ears
5426	POLE	HP:0000337	Broad forehead
5426	POLE	HP:0000347	Micrognathia
5426	POLE	HP:0002983	Micromelia
5426	POLE	HP:0005280	Depressed nasal bridge
5426	POLE	HP:0000460	Narrow nose
5426	POLE	HP:0000475	Broad neck
5426	POLE	HP:0000470	Short neck
5428	POLG	HP:0001155	Abnormality of the hand
5428	POLG	HP:0002495	Impaired vibratory sensation
5428	POLG	HP:0002460	Distal muscle weakness
5428	POLG	HP:0002446	Astrocytosis
5428	POLG	HP:0007302	Bipolar affective disorder
5428	POLG	HP:0008619	Bilateral sensorineural hearing impairment
5428	POLG	HP:0025149	Atrophic muscularis propria
5428	POLG	HP:0007240	Progressive gait ataxia
5428	POLG	HP:0010871	Sensory ataxia
5428	POLG	HP:0003731	Quadriceps muscle weakness
5428	POLG	HP:0003722	Neck flexor weakness
5428	POLG	HP:0002406	Limb dysmetria
5428	POLG	HP:0003737	Mitochondrial myopathy
5428	POLG	HP:0002403	Positive Romberg sign
5428	POLG	HP:0003701	Proximal muscle weakness
5428	POLG	HP:0003700	Generalized amyotrophy
5428	POLG	HP:0003713	Muscle fiber necrosis
5428	POLG	HP:0001298	Encephalopathy
5428	POLG	HP:0001290	Generalized hypotonia
5428	POLG	HP:0001276	Hypertonia
5428	POLG	HP:0001272	Cerebellar atrophy
5428	POLG	HP:0001288	Gait disturbance
5428	POLG	HP:0001284	Areflexia
5428	POLG	HP:0001254	Lethargy
5428	POLG	HP:0001250	Seizure
5428	POLG	HP:0001252	Hypotonia
5428	POLG	HP:0001251	Ataxia
5428	POLG	HP:0002579	Gastrointestinal dysmotility
5428	POLG	HP:0001249	Intellectual disability
5428	POLG	HP:0002578	Gastroparesis
5428	POLG	HP:0001265	Hyporeflexia
5428	POLG	HP:0001266	Choreoathetosis
5428	POLG	HP:0001260	Dysarthria
5428	POLG	HP:0001263	Global developmental delay
5428	POLG	HP:0001257	Spasticity
5428	POLG	HP:0001259	Coma
5428	POLG	HP:0033685	Fiber type grouping
5428	POLG	HP:0007359	Focal-onset seizure
5428	POLG	HP:0007344	Atrophy/Degeneration involving the spinal cord
5428	POLG	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
5428	POLG	HP:0002529	Neuronal loss in central nervous system
5428	POLG	HP:0002522	Areflexia of lower limbs
5428	POLG	HP:0002500	Abnormal cerebral white matter morphology
5428	POLG	HP:0012079	Abnormality of central motor conduction
5428	POLG	HP:0012072	Aciduria
5428	POLG	HP:0001399	Hepatic failure
5428	POLG	HP:0001392	Abnormality of the liver
5428	POLG	HP:0001394	Cirrhosis
5428	POLG	HP:0012050	Anasarca
5428	POLG	HP:0000044	Hypogonadotropic hypogonadism
5428	POLG	HP:0025331	Upgaze palsy
5428	POLG	HP:0001350	Slurred speech
5428	POLG	HP:0001349	Facial diplegia
5428	POLG	HP:0000017	Nocturia
5428	POLG	HP:0000029	Testicular atrophy
5428	POLG	HP:0001332	Dystonia
5428	POLG	HP:0001324	Muscle weakness
5428	POLG	HP:0000007	Autosomal recessive inheritance
5428	POLG	HP:0001337	Tremor
5428	POLG	HP:0000006	Autosomal dominant inheritance
5428	POLG	HP:0001336	Myoclonus
5428	POLG	HP:0033748	Hypoesthesia
5428	POLG	HP:0001310	Dysmetria
5428	POLG	HP:0002650	Scoliosis
5428	POLG	HP:0001300	Parkinsonism
5428	POLG	HP:0025461	Abnormal cell morphology
5428	POLG	HP:0001488	Bilateral ptosis
5428	POLG	HP:0007641	Dyschromatopsia
5428	POLG	HP:0033842	Early satiety
5428	POLG	HP:0012103	Abnormality of the mitochondrion
5428	POLG	HP:0002779	Tracheomalacia
5428	POLG	HP:0002791	Hypoventilation
5428	POLG	HP:0025403	Stooped posture
5428	POLG	HP:0001408	Bile duct proliferation
5428	POLG	HP:0001403	Macrovesicular hepatic steatosis
5428	POLG	HP:0002747	Respiratory insufficiency due to muscle weakness
5428	POLG	HP:0001414	Microvesicular hepatic steatosis
5428	POLG	HP:0001413	Micronodular cirrhosis
5428	POLG	HP:0002024	Malabsorption
5428	POLG	HP:0002020	Gastroesophageal reflux
5428	POLG	HP:0002018	Nausea
5428	POLG	HP:0002019	Constipation
5428	POLG	HP:0003348	Hyperalaninemia
5428	POLG	HP:0002027	Abdominal pain
5428	POLG	HP:0003326	Myalgia
5428	POLG	HP:0002014	Diarrhea
5428	POLG	HP:0002015	Dysphagia
5428	POLG	HP:0002013	Vomiting
5428	POLG	HP:0003323	Progressive muscle weakness
5428	POLG	HP:0003324	Generalized muscle weakness
5428	POLG	HP:0002080	Intention tremor
5428	POLG	HP:0100543	Cognitive impairment
5428	POLG	HP:0002093	Respiratory insufficiency
5428	POLG	HP:0002069	Bilateral tonic-clonic seizure
5428	POLG	HP:0002067	Bradykinesia
5428	POLG	HP:0002066	Gait ataxia
5428	POLG	HP:0003394	Muscle spasm
5428	POLG	HP:0002063	Rigidity
5428	POLG	HP:0003390	Sensory axonal neuropathy
5428	POLG	HP:0002078	Truncal ataxia
5428	POLG	HP:0002076	Migraine
5428	POLG	HP:0002070	Limb ataxia
5428	POLG	HP:0002071	Abnormality of extrapyramidal motor function
5428	POLG	HP:0003376	Steppage gait
5428	POLG	HP:0002059	Cerebral atrophy
5428	POLG	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
5428	POLG	HP:0003388	Easy fatigability
5428	POLG	HP:0008180	Mildly elevated creatine kinase
5428	POLG	HP:0003477	Peripheral axonal neuropathy
5428	POLG	HP:0003470	Paralysis
5428	POLG	HP:0003487	Babinski sign
5428	POLG	HP:0002151	Increased serum lactate
5428	POLG	HP:0003448	Decreased sensory nerve conduction velocity
5428	POLG	HP:0002136	Broad-based gait
5428	POLG	HP:0002133	Status epilepticus
5428	POLG	HP:0003458	EMG: myopathic abnormalities
5428	POLG	HP:0003434	Sensory ataxic neuropathy
5428	POLG	HP:0003431	Decreased motor nerve conduction velocity
5428	POLG	HP:0003438	Absent Achilles reflex
5428	POLG	HP:0011923	Decreased activity of mitochondrial complex I
5428	POLG	HP:0002191	Progressive spasticity
5428	POLG	HP:0002171	Gliosis
5428	POLG	HP:0010546	Muscle fibrillation
5428	POLG	HP:0008209	Premature ovarian insufficiency
5428	POLG	HP:0003401	Paresthesia
5428	POLG	HP:0003596	Middle age onset
5428	POLG	HP:0003593	Infantile onset
5428	POLG	HP:0002273	Tetraparesis
5428	POLG	HP:0002240	Hepatomegaly
5428	POLG	HP:0100704	Cerebral visual impairment
5428	POLG	HP:0002254	Intermittent diarrhea
5428	POLG	HP:0002253	Colonic diverticula
5428	POLG	HP:0003581	Adult onset
5428	POLG	HP:0003552	Muscle stiffness
5428	POLG	HP:0003551	Difficulty climbing stairs
5428	POLG	HP:0003547	Shoulder girdle muscle weakness
5428	POLG	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
5428	POLG	HP:0003546	Exercise intolerance
5428	POLG	HP:0003557	Increased variability in muscle fiber diameter
5428	POLG	HP:0003542	Increased serum pyruvate
5428	POLG	HP:0003535	3-Methylglutaconic aciduria
5428	POLG	HP:0007042	Focal white matter lesions
5428	POLG	HP:0008347	Decreased activity of mitochondrial complex IV
5428	POLG	HP:0010628	Facial palsy
5428	POLG	HP:0002385	Paraparesis
5428	POLG	HP:0002396	Cogwheel rigidity
5428	POLG	HP:0002362	Shuffling gait
5428	POLG	HP:0003693	Distal amyotrophy
5428	POLG	HP:0003691	Scapular winging
5428	POLG	HP:0003690	Limb muscle weakness
5428	POLG	HP:0002359	Frequent falls
5428	POLG	HP:0003688	Cytochrome C oxidase-negative muscle fibers
5428	POLG	HP:0003689	Multiple mitochondrial DNA deletions
5428	POLG	HP:0002378	Hand tremor
5428	POLG	HP:0002375	Hypokinesia
5428	POLG	HP:0002376	Developmental regression
5428	POLG	HP:0002345	Action tremor
5428	POLG	HP:0003676	Progressive
5428	POLG	HP:0003687	Centrally nucleated skeletal muscle fibers
5428	POLG	HP:0002354	Memory impairment
5428	POLG	HP:0002352	Leukoencephalopathy
5428	POLG	HP:0003678	Rapidly progressive
5428	POLG	HP:0002322	Resting tremor
5428	POLG	HP:0002315	Headache
5428	POLG	HP:0002313	Spastic paraparesis
5428	POLG	HP:0100653	Optic neuritis
5428	POLG	HP:0009830	Peripheral neuropathy
5428	POLG	HP:0100613	Death in early adulthood
5428	POLG	HP:0007141	Sensorimotor neuropathy
5428	POLG	HP:0032155	Abdominal cramps
5428	POLG	HP:0007103	Hypointensity of cerebral white matter on MRI
5428	POLG	HP:0007108	Demyelinating peripheral neuropathy
5428	POLG	HP:0003621	Juvenile onset
5428	POLG	HP:0006858	Impaired distal proprioception
5428	POLG	HP:0006886	Impaired distal vibration sensation
5428	POLG	HP:0000639	Nystagmus
5428	POLG	HP:0001962	Palpitations
5428	POLG	HP:0000651	Diplopia
5428	POLG	HP:0000649	Abnormality of visual evoked potentials
5428	POLG	HP:0000648	Optic atrophy
5428	POLG	HP:0000618	Blindness
5428	POLG	HP:0001946	Ketosis
5428	POLG	HP:0001952	Glucose intolerance
5428	POLG	HP:0000602	Ophthalmoplegia
5428	POLG	HP:0001903	Anemia
5428	POLG	HP:0012696	Abnormal thalamic MRI signal intensity
5428	POLG	HP:0012664	Reduced left ventricular ejection fraction
5428	POLG	HP:0009027	Foot dorsiflexor weakness
5428	POLG	HP:0004326	Cachexia
5428	POLG	HP:0004308	Ventricular arrhythmia
5428	POLG	HP:0006964	Cerebral cortical neurodegeneration
5428	POLG	HP:0031987	Diminished ability to concentrate
5428	POLG	HP:0006937	Impaired distal tactile sensation
5428	POLG	HP:0004389	Intestinal pseudo-obstruction
5428	POLG	HP:0004396	Poor appetite
5428	POLG	HP:0004395	Malnutrition
5428	POLG	HP:0100022	Abnormality of movement
5428	POLG	HP:0000739	Anxiety
5428	POLG	HP:0000716	Depression
5428	POLG	HP:0000712	Emotional lability
5428	POLG	HP:0000726	Dementia
5428	POLG	HP:0000708	Atypical behavior
5428	POLG	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
5428	POLG	HP:0011463	Childhood onset
5428	POLG	HP:0011462	Young adult onset
5428	POLG	HP:0000786	Primary amenorrhea
5428	POLG	HP:0003198	Myopathy
5428	POLG	HP:0003199	Decreased muscle mass
5428	POLG	HP:0034276	Elevated circulating thymidine concentration
5428	POLG	HP:0034277	Elevated circulating deoxyuridine concentration
5428	POLG	HP:0100315	Lewy bodies
5428	POLG	HP:0003128	Lactic acidosis
5428	POLG	HP:0000872	Hashimoto thyroiditis
5428	POLG	HP:0012847	Epilepsia partialis continua
5428	POLG	HP:0012850	Small intestinal dysmotility
5428	POLG	HP:0000853	Goiter
5428	POLG	HP:0000869	Secondary amenorrhea
5428	POLG	HP:0000836	Hyperthyroidism
5428	POLG	HP:0000819	Diabetes mellitus
5428	POLG	HP:0000815	Hypergonadotropic hypogonadism
5428	POLG	HP:0000821	Hypothyroidism
5428	POLG	HP:0003236	Elevated circulating creatine kinase concentration
5428	POLG	HP:0003219	Ethylmalonic aciduria
5428	POLG	HP:0003202	Skeletal muscle atrophy
5428	POLG	HP:0003200	Ragged-red muscle fibers
5428	POLG	HP:0003201	Rhabdomyolysis
5428	POLG	HP:0003270	Abdominal distention
5428	POLG	HP:0000952	Jaundice
5428	POLG	HP:0000969	Edema
5428	POLG	HP:0000939	Osteoporosis
5428	POLG	HP:0100295	Muscle fiber atrophy
5428	POLG	HP:0008049	Abnormality of the extraocular muscles
5428	POLG	HP:0011675	Arrhythmia
5428	POLG	HP:0000298	Mask-like facies
5428	POLG	HP:0012251	ST segment elevation
5428	POLG	HP:0005110	Atrial fibrillation
5428	POLG	HP:0000252	Microcephaly
5428	POLG	HP:0002875	Exertional dyspnea
5428	POLG	HP:0001541	Ascites
5428	POLG	HP:0031358	Vegetative state
5428	POLG	HP:0001533	Slender build
5428	POLG	HP:0031368	Intestinal perforation
5428	POLG	HP:0001508	Failure to thrive
5428	POLG	HP:0007824	Total ophthalmoplegia
5428	POLG	HP:0007814	Retinal pigment epithelial mottling
5428	POLG	HP:0012378	Fatigue
5428	POLG	HP:0032860	Generalized non-convulsive status epilepticus without coma
5428	POLG	HP:0006554	Acute hepatic failure
5428	POLG	HP:0002936	Distal sensory impairment
5428	POLG	HP:0001618	Dysphonia
5428	POLG	HP:0002910	Elevated hepatic transaminase
5428	POLG	HP:0002922	Increased CSF protein concentration
5428	POLG	HP:0002921	Abnormal cerebrospinal fluid morphology
5428	POLG	HP:0000365	Hearing impairment
5428	POLG	HP:0031422	Abnormal cerebellar cortex morphology
5428	POLG	HP:0011024	Abnormality of the gastrointestinal tract
5428	POLG	HP:0000338	Hypomimic face
5428	POLG	HP:0001644	Dilated cardiomyopathy
5428	POLG	HP:0030143	Hyperactive bowel sounds
5428	POLG	HP:0001653	Mitral regurgitation
5428	POLG	HP:0001621	Weak voice
5428	POLG	HP:0001638	Cardiomyopathy
5428	POLG	HP:0001634	Mitral valve prolapse
5428	POLG	HP:0030319	Weakness of facial musculature
5428	POLG	HP:0011166	Focal myoclonic seizure
5428	POLG	HP:0000407	Sensorineural hearing impairment
5428	POLG	HP:0001712	Left ventricular hypertrophy
5428	POLG	HP:0000479	Abnormal retinal morphology
5428	POLG	HP:0000478	Abnormality of the eye
5428	POLG	HP:0000496	Abnormality of eye movement
5428	POLG	HP:0030237	Hand muscle weakness
5428	POLG	HP:0001751	Abnormal vestibular function
5428	POLG	HP:0025710	Late young adult onset
5428	POLG	HP:0001761	Pes cavus
5428	POLG	HP:0025708	Early young adult onset
5428	POLG	HP:0000518	Cataract
5428	POLG	HP:0001824	Weight loss
5428	POLG	HP:0000508	Ptosis
5428	POLG	HP:0000505	Visual impairment
5428	POLG	HP:0000504	Abnormality of vision
5428	POLG	HP:0000597	Ophthalmoparesis
5428	POLG	HP:0000590	Progressive external ophthalmoplegia
5428	POLG	HP:0000572	Visual loss
5428	POLG	HP:0012533	Allodynia
5428	POLG	HP:0000565	Esotropia
5428	POLG	HP:0000544	External ophthalmoplegia
5429	POLH	HP:0012056	Cutaneous melanoma
5429	POLH	HP:0002671	Basal cell carcinoma
5429	POLH	HP:0000007	Autosomal recessive inheritance
5429	POLH	HP:0007603	Freckles in sun-exposed areas
5429	POLH	HP:0001029	Poikiloderma
5429	POLH	HP:0001010	Hypopigmentation of the skin
5429	POLH	HP:0001009	Telangiectasia
5429	POLH	HP:0000613	Photophobia
5429	POLH	HP:0000621	Entropion
5429	POLH	HP:0000656	Ectropion
5429	POLH	HP:0004334	Dermal atrophy
5429	POLH	HP:0000992	Cutaneous photosensitivity
5429	POLH	HP:0000958	Dry skin
5429	POLH	HP:0000953	Hyperpigmentation of the skin
5429	POLH	HP:0000252	Microcephaly
5429	POLH	HP:0002861	Melanoma
5429	POLH	HP:0002860	Squamous cell carcinoma
5429	POLH	HP:0001510	Growth delay
5429	POLH	HP:0000491	Keratitis
5429	POLH	HP:0000509	Conjunctivitis
5430	POLR2A	HP:0002453	Abnormal globus pallidus morphology
5430	POLR2A	HP:0007281	Developmental stagnation
5430	POLR2A	HP:0001290	Generalized hypotonia
5430	POLR2A	HP:0001274	Agenesis of corpus callosum
5430	POLR2A	HP:0001250	Seizure
5430	POLR2A	HP:0025352	Typically de novo
5430	POLR2A	HP:0025336	Delayed ability to sit
5430	POLR2A	HP:0000023	Inguinal hernia
5430	POLR2A	HP:0001357	Plagiocephaly
5430	POLR2A	HP:0000006	Autosomal dominant inheritance
5430	POLR2A	HP:0031139	Frog-leg posture
5430	POLR2A	HP:0000175	Cleft palate
5430	POLR2A	HP:0002020	Gastroesophageal reflux
5430	POLR2A	HP:0002079	Hypoplasia of the corpus callosum
5430	POLR2A	HP:0002119	Ventriculomegaly
5430	POLR2A	HP:0002188	Delayed CNS myelination
5430	POLR2A	HP:0003546	Exercise intolerance
5430	POLR2A	HP:0002205	Recurrent respiratory infections
5430	POLR2A	HP:0002280	Enlarged cisterna magna
5430	POLR2A	HP:0011968	Feeding difficulties
5430	POLR2A	HP:0002360	Sleep disturbance
5430	POLR2A	HP:0000692	Tooth malposition
5430	POLR2A	HP:0031936	Delayed ability to walk
5430	POLR2A	HP:0000767	Pectus excavatum
5430	POLR2A	HP:0000729	Autistic behavior
5430	POLR2A	HP:0003202	Skeletal muscle atrophy
5430	POLR2A	HP:0000252	Microcephaly
5430	POLR2A	HP:0000248	Brachycephaly
5430	POLR2A	HP:0000218	High palate
5430	POLR2A	HP:0001558	Decreased fetal movement
5430	POLR2A	HP:0001508	Failure to thrive
5430	POLR2A	HP:0000348	High forehead
5430	POLR2A	HP:0000316	Hypertelorism
5430	POLR2A	HP:0000486	Strabismus
5430	POLR2A	HP:0000505	Visual impairment
5442	POLRMT	HP:0003701	Proximal muscle weakness
5442	POLRMT	HP:0001252	Hypotonia
5442	POLRMT	HP:0001249	Intellectual disability
5442	POLRMT	HP:0001263	Global developmental delay
5442	POLRMT	HP:0007359	Focal-onset seizure
5442	POLRMT	HP:0033725	Thin corpus callosum
5442	POLRMT	HP:0001324	Muscle weakness
5442	POLRMT	HP:0001344	Absent speech
5442	POLRMT	HP:0000007	Autosomal recessive inheritance
5442	POLRMT	HP:0000006	Autosomal dominant inheritance
5442	POLRMT	HP:0000194	Open mouth
5442	POLRMT	HP:0001488	Bilateral ptosis
5442	POLRMT	HP:0000114	Proximal tubulopathy
5442	POLRMT	HP:0002019	Constipation
5442	POLRMT	HP:0008180	Mildly elevated creatine kinase
5442	POLRMT	HP:0002151	Increased serum lactate
5442	POLRMT	HP:0002148	Hypophosphatemia
5442	POLRMT	HP:0002119	Ventriculomegaly
5442	POLRMT	HP:0010602	Type 2 muscle fiber predominance
5442	POLRMT	HP:0003596	Middle age onset
5442	POLRMT	HP:0003593	Infantile onset
5442	POLRMT	HP:0004912	Hypophosphatemic rickets
5442	POLRMT	HP:0012625	Stage 3 chronic kidney disease
5442	POLRMT	HP:0000601	Hypotelorism
5442	POLRMT	HP:0001903	Anemia
5442	POLRMT	HP:0011344	Severe global developmental delay
5442	POLRMT	HP:0011342	Mild global developmental delay
5442	POLRMT	HP:0001992	Organic aciduria
5442	POLRMT	HP:0001994	Renal Fanconi syndrome
5442	POLRMT	HP:0004322	Short stature
5442	POLRMT	HP:0000805	Enuresis
5442	POLRMT	HP:0000750	Delayed speech and language development
5442	POLRMT	HP:0012707	Elevated brain lactate level by MRS
5442	POLRMT	HP:0011463	Childhood onset
5442	POLRMT	HP:0011462	Young adult onset
5442	POLRMT	HP:0003198	Myopathy
5442	POLRMT	HP:0003236	Elevated circulating creatine kinase concentration
5442	POLRMT	HP:0003202	Skeletal muscle atrophy
5442	POLRMT	HP:0000954	Single transverse palmar crease
5442	POLRMT	HP:0000286	Epicanthus
5442	POLRMT	HP:0005101	High-frequency hearing impairment
5442	POLRMT	HP:0000252	Microcephaly
5442	POLRMT	HP:0000218	High palate
5442	POLRMT	HP:0002917	Hypomagnesemia
5442	POLRMT	HP:0002970	Genu varum
5442	POLRMT	HP:0005280	Depressed nasal bridge
5442	POLRMT	HP:0000486	Strabismus
5442	POLRMT	HP:0000463	Anteverted nares
5442	POLRMT	HP:0012408	Medullary nephrocalcinosis
5442	POLRMT	HP:0001762	Talipes equinovarus
5442	POLRMT	HP:0000577	Exotropia
5442	POLRMT	HP:0000590	Progressive external ophthalmoplegia
5442	POLRMT	HP:0000592	Blue sclerae
5442	POLRMT	HP:0001873	Thrombocytopenia
5443	POMC	HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge
5443	POMC	HP:0002591	Polyphagia
5443	POMC	HP:0010982	Polygenic inheritance
5443	POMC	HP:0001396	Cholestasis
5443	POMC	HP:0000007	Autosomal recessive inheritance
5443	POMC	HP:0000006	Autosomal dominant inheritance
5443	POMC	HP:0008915	Childhood-onset truncal obesity
5443	POMC	HP:0002750	Delayed skeletal maturation
5443	POMC	HP:0011748	Adrenocorticotropic hormone deficiency
5443	POMC	HP:0011734	Central adrenal insufficiency
5443	POMC	HP:0008163	Decreased circulating cortisol level
5443	POMC	HP:0002173	Hypoglycemic seizures
5443	POMC	HP:0008245	Pituitary hypothyroidism
5443	POMC	HP:0008213	Gonadotropin deficiency
5443	POMC	HP:0003593	Infantile onset
5443	POMC	HP:0002297	Red hair
5443	POMC	HP:0001010	Hypopigmentation of the skin
5443	POMC	HP:0003623	Neonatal onset
5443	POMC	HP:0031819	Increased waist to hip ratio
5443	POMC	HP:0009126	Increased adipose tissue
5443	POMC	HP:0000835	Adrenal hypoplasia
5443	POMC	HP:0000846	Adrenal insufficiency
5443	POMC	HP:0000842	Hyperinsulinemia
5443	POMC	HP:0000824	Decreased response to growth hormone stimulation test
5443	POMC	HP:0000823	Delayed puberty
5443	POMC	HP:0000956	Acanthosis nigricans
5443	POMC	HP:0001508	Failure to thrive
5443	POMC	HP:0001510	Growth delay
5443	POMC	HP:0001513	Obesity
5443	POMC	HP:0002904	Hyperbilirubinemia
5443	POMC	HP:0012340	Decreased resting energy expenditure
5444	PON1	HP:0001257	Spasticity
5444	PON1	HP:0007373	Motor neuron atrophy
5444	PON1	HP:0007354	Amyotrophic lateral sclerosis
5444	PON1	HP:0025425	Laryngospasm
5444	PON1	HP:0002795	Abnormal respiratory system physiology
5444	PON1	HP:0002017	Nausea and vomiting
5444	PON1	HP:0003324	Generalized muscle weakness
5444	PON1	HP:0002094	Dyspnea
5444	PON1	HP:0003394	Muscle spasm
5444	PON1	HP:0003470	Paralysis
5444	PON1	HP:0002180	Neurodegeneration
5444	PON1	HP:0000739	Anxiety
5444	PON1	HP:0000716	Depression
5444	PON1	HP:0000712	Emotional lability
5444	PON1	HP:0000713	Agitation
5444	PON1	HP:0003202	Skeletal muscle atrophy
5444	PON1	HP:0000217	Xerostomia
5444	PON1	HP:0002878	Respiratory failure
5444	PON1	HP:0012378	Fatigue
5444	PON1	HP:0030196	Fatigable weakness of respiratory muscles
5444	PON1	HP:0030195	Fatigable weakness of swallowing muscles
5444	PON1	HP:0030192	Fatigable weakness of bulbar muscles
5444	PON1	HP:0012531	Pain
5445	PON2	HP:0001257	Spasticity
5445	PON2	HP:0007373	Motor neuron atrophy
5445	PON2	HP:0007354	Amyotrophic lateral sclerosis
5445	PON2	HP:0025425	Laryngospasm
5445	PON2	HP:0002795	Abnormal respiratory system physiology
5445	PON2	HP:0002017	Nausea and vomiting
5445	PON2	HP:0003324	Generalized muscle weakness
5445	PON2	HP:0002094	Dyspnea
5445	PON2	HP:0003394	Muscle spasm
5445	PON2	HP:0003470	Paralysis
5445	PON2	HP:0002180	Neurodegeneration
5445	PON2	HP:0000739	Anxiety
5445	PON2	HP:0000716	Depression
5445	PON2	HP:0000712	Emotional lability
5445	PON2	HP:0000713	Agitation
5445	PON2	HP:0003202	Skeletal muscle atrophy
5445	PON2	HP:0000217	Xerostomia
5445	PON2	HP:0002878	Respiratory failure
5445	PON2	HP:0012378	Fatigue
5445	PON2	HP:0030196	Fatigable weakness of respiratory muscles
5445	PON2	HP:0030195	Fatigable weakness of swallowing muscles
5445	PON2	HP:0030192	Fatigable weakness of bulbar muscles
5445	PON2	HP:0012531	Pain
5446	PON3	HP:0001257	Spasticity
5446	PON3	HP:0007373	Motor neuron atrophy
5446	PON3	HP:0007354	Amyotrophic lateral sclerosis
5446	PON3	HP:0025425	Laryngospasm
5446	PON3	HP:0002795	Abnormal respiratory system physiology
5446	PON3	HP:0002017	Nausea and vomiting
5446	PON3	HP:0003324	Generalized muscle weakness
5446	PON3	HP:0002094	Dyspnea
5446	PON3	HP:0003394	Muscle spasm
5446	PON3	HP:0003470	Paralysis
5446	PON3	HP:0002180	Neurodegeneration
5446	PON3	HP:0000739	Anxiety
5446	PON3	HP:0000716	Depression
5446	PON3	HP:0000712	Emotional lability
5446	PON3	HP:0000713	Agitation
5446	PON3	HP:0003202	Skeletal muscle atrophy
5446	PON3	HP:0000217	Xerostomia
5446	PON3	HP:0002878	Respiratory failure
5446	PON3	HP:0012378	Fatigue
5446	PON3	HP:0030196	Fatigable weakness of respiratory muscles
5446	PON3	HP:0030195	Fatigable weakness of swallowing muscles
5446	PON3	HP:0030192	Fatigable weakness of bulbar muscles
5446	PON3	HP:0012531	Pain
5447	POR	HP:0001176	Large hands
5447	POR	HP:0001155	Abnormality of the hand
5447	POR	HP:0001156	Brachydactyly
5447	POR	HP:0001166	Arachnodactyly
5447	POR	HP:0010946	Dilatation of the renal pelvis
5447	POR	HP:0001195	Single umbilical artery
5447	POR	HP:0020206	Simple ear
5447	POR	HP:0010862	Delayed fine motor development
5447	POR	HP:0001249	Intellectual disability
5447	POR	HP:0006118	Shortening of all distal phalanges of the fingers
5447	POR	HP:0032362	Increased circulating corticosterone level
5447	POR	HP:0031065	Abnormal ovarian morphology
5447	POR	HP:0031074	Abnormal response to ACTH stimulation test
5447	POR	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test
5447	POR	HP:0008675	Enlarged polycystic ovaries
5447	POR	HP:0008665	Clitoral hypertrophy
5447	POR	HP:0003826	Stillbirth
5447	POR	HP:0000085	Horseshoe kidney
5447	POR	HP:0000066	Labial hypoplasia
5447	POR	HP:0000062	Ambiguous genitalia
5447	POR	HP:0000063	Fused labia minora
5447	POR	HP:0000059	Hypoplastic labia majora
5447	POR	HP:0000076	Vesicoureteral reflux
5447	POR	HP:0000079	Abnormality of the urinary system
5447	POR	HP:0000046	Small scrotum
5447	POR	HP:0001377	Limited elbow extension
5447	POR	HP:0001376	Limitation of joint mobility
5447	POR	HP:0001371	Flexion contracture
5447	POR	HP:0000041	Chordee
5447	POR	HP:0000055	Abnormality of female external genitalia
5447	POR	HP:0000054	Micropenis
5447	POR	HP:0033812	Decreased circulating androstenedione concentration
5447	POR	HP:0000048	Bifid scrotum
5447	POR	HP:0000047	Hypospadias
5447	POR	HP:0002676	Cloverleaf skull
5447	POR	HP:0000032	Abnormality of male external genitalia
5447	POR	HP:0001363	Craniosynostosis
5447	POR	HP:0000028	Cryptorchidism
5447	POR	HP:0031187	Abnormal circulating pregnenolone concentration
5447	POR	HP:0007466	Midfrontal capillary hemangioma
5447	POR	HP:0000013	Hypoplasia of the uterus
5447	POR	HP:0000007	Autosomal recessive inheritance
5447	POR	HP:0000006	Autosomal dominant inheritance
5447	POR	HP:0002650	Scoliosis
5447	POR	HP:0031100	Decreased inhibin B level
5447	POR	HP:0025486	Fused labia majora
5447	POR	HP:0000160	Narrow mouth
5447	POR	HP:0000144	Decreased fertility
5447	POR	HP:0025436	Elevated serum 11-deoxycortisol
5447	POR	HP:0000138	Ovarian cyst
5447	POR	HP:0000147	Polycystic ovaries
5447	POR	HP:0000148	Vaginal atresia
5447	POR	HP:0002705	High, narrow palate
5447	POR	HP:0000122	Unilateral renal agenesis
5447	POR	HP:0002780	Bronchomalacia
5447	POR	HP:0002781	Upper airway obstruction
5447	POR	HP:0001440	Metatarsal synostosis
5447	POR	HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration
5447	POR	HP:0031214	Decreased circulating dehydroepiandrosterone concentration
5447	POR	HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate concentration
5447	POR	HP:0031216	Increased circulating progesterone
5447	POR	HP:0032569	Temporal bossing
5447	POR	HP:0003351	Decreased circulating renin level
5447	POR	HP:0002020	Gastroesophageal reflux
5447	POR	HP:0002019	Constipation
5447	POR	HP:0002007	Frontal bossing
5447	POR	HP:0011800	Midface retrusion
5447	POR	HP:0040253	Increased size of the clitoris
5447	POR	HP:0005913	Abnormal metacarpal epiphysis morphology
5447	POR	HP:0008163	Decreased circulating cortisol level
5447	POR	HP:0009473	Joint contracture of the hand
5447	POR	HP:0003468	Abnormal vertebral morphology
5447	POR	HP:0002153	Hyperkalemia
5447	POR	HP:0011911	Abnormal metacarpophalangeal joint morphology
5447	POR	HP:0008258	Congenital adrenal hyperplasia
5447	POR	HP:0008233	Decreased circulating progesterone
5447	POR	HP:0008232	Elevated circulating follicle stimulating hormone level
5447	POR	HP:0008221	Adrenal hyperplasia
5447	POR	HP:0008214	Decreased serum estradiol
5447	POR	HP:0009738	Abnormal antihelix morphology
5447	POR	HP:0009702	Carpal synostosis
5447	POR	HP:0009701	Metacarpal synostosis
5447	POR	HP:0008368	Tarsal synostosis
5447	POR	HP:0011969	Elevated circulating luteinizing hormone level
5447	POR	HP:0001007	Hirsutism
5447	POR	HP:0002308	Chiari malformation
5447	POR	HP:0001943	Hypoglycemia
5447	POR	HP:0010049	Short metacarpal
5447	POR	HP:0011302	Long palm
5447	POR	HP:0001999	Abnormal facial shape
5447	POR	HP:0003070	Elbow ankylosis
5447	POR	HP:0003031	Ulnar bowing
5447	POR	HP:0003049	Ulnar deviation of the wrist
5447	POR	HP:0003041	Humeroradial synostosis
5447	POR	HP:0003019	Abnormality of the wrist
5447	POR	HP:0011410	Caesarian section
5447	POR	HP:0000772	Abnormal rib morphology
5447	POR	HP:0011403	Abnormal umbilical cord blood vessel morphology
5447	POR	HP:0000750	Delayed speech and language development
5447	POR	HP:0000798	Oligospermia
5447	POR	HP:0000774	Narrow chest
5447	POR	HP:0000786	Primary amenorrhea
5447	POR	HP:0004443	Lambdoidal craniosynostosis
5447	POR	HP:0004440	Coronal craniosynostosis
5447	POR	HP:0003196	Short nose
5447	POR	HP:0000924	Abnormality of the skeletal system
5447	POR	HP:0000927	Abnormality of skeletal maturation
5447	POR	HP:0003154	Increased circulating ACTH level
5447	POR	HP:0000882	Hypoplastic scapulae
5447	POR	HP:0000846	Adrenal insufficiency
5447	POR	HP:0000811	Abnormal external genitalia
5447	POR	HP:0000822	Hypertension
5447	POR	HP:0000823	Delayed puberty
5447	POR	HP:0005892	Proximal tibial and fibular fusion
5447	POR	HP:0003275	Narrow pelvis bone
5447	POR	HP:0008072	Maternal virilization in pregnancy
5447	POR	HP:0008073	Low maternal circulating estriol concentration
5447	POR	HP:0000260	Wide anterior fontanel
5447	POR	HP:0000262	Turricephaly
5447	POR	HP:0000256	Macrocephaly
5447	POR	HP:0000272	Malar flattening
5447	POR	HP:0006439	Radioulnar dislocation
5447	POR	HP:0030084	Clinodactyly
5447	POR	HP:0000238	Hydrocephalus
5447	POR	HP:0000252	Microcephaly
5447	POR	HP:0001586	Vesicovaginal fistula
5447	POR	HP:0000248	Brachycephaly
5447	POR	HP:0012210	Abnormal renal morphology
5447	POR	HP:0001545	Anteriorly placed anus
5447	POR	HP:0001562	Oligohydramnios
5447	POR	HP:0001519	Disproportionate tall stature
5447	POR	HP:0001518	Small for gestational age
5447	POR	HP:0012385	Camptodactyly
5447	POR	HP:0000377	Abnormal pinna morphology
5447	POR	HP:0002937	Hemivertebrae
5447	POR	HP:0001601	Laryngomalacia
5447	POR	HP:0002902	Hyponatremia
5447	POR	HP:0006487	Bowing of the long bones
5447	POR	HP:0000363	Abnormal earlobe morphology
5447	POR	HP:0000369	Low-set ears
5447	POR	HP:0000343	Long philtrum
5447	POR	HP:0002980	Femoral bowing
5447	POR	HP:0000316	Hypertelorism
5447	POR	HP:0002974	Radioulnar synostosis
5447	POR	HP:0002987	Elbow flexion contracture
5447	POR	HP:0001623	Breech presentation
5447	POR	HP:0002967	Cubitus valgus
5447	POR	HP:0001631	Atrial septal defect
5447	POR	HP:0000405	Conductive hearing impairment
5447	POR	HP:0000402	Stenosis of the external auditory canal
5447	POR	HP:0005280	Depressed nasal bridge
5447	POR	HP:0001769	Broad foot
5447	POR	HP:0000453	Choanal atresia
5447	POR	HP:0000452	Choanal stenosis
5447	POR	HP:0000445	Wide nose
5447	POR	HP:0000414	Bulbous nose
5447	POR	HP:0001760	Abnormal foot morphology
5447	POR	HP:0001762	Talipes equinovarus
5447	POR	HP:0000520	Proptosis
5447	POR	HP:0001838	Rocker bottom foot
5447	POR	HP:0030349	Decreased circulating androgen concentration
5447	POR	HP:0001883	Talipes
5449	POU1F1	HP:0001161	Hand polydactyly
5449	POU1F1	HP:0009888	Abnormality of secondary sexual hair
5449	POU1F1	HP:0032210	Decreased circulating free T3
5449	POU1F1	HP:0001274	Agenesis of corpus callosum
5449	POU1F1	HP:0001254	Lethargy
5449	POU1F1	HP:0001250	Seizure
5449	POU1F1	HP:0001252	Hypotonia
5449	POU1F1	HP:0001249	Intellectual disability
5449	POU1F1	HP:0001265	Hyporeflexia
5449	POU1F1	HP:0100842	Septo-optic dysplasia
5449	POU1F1	HP:0008734	Decreased testicular size
5449	POU1F1	HP:0031079	Impaired growth-hormone response to insulin stimulation test
5449	POU1F1	HP:0031098	Decreased thyroid-stimulating hormone level
5449	POU1F1	HP:0000044	Hypogonadotropic hypogonadism
5449	POU1F1	HP:0001360	Holoprosencephaly
5449	POU1F1	HP:0008872	Feeding difficulties in infancy
5449	POU1F1	HP:0008850	Severe postnatal growth retardation
5449	POU1F1	HP:0008828	Delayed proximal femoral epiphyseal ossification
5449	POU1F1	HP:0001331	Absent septum pellucidum
5449	POU1F1	HP:0000007	Autosomal recessive inheritance
5449	POU1F1	HP:0000006	Autosomal dominant inheritance
5449	POU1F1	HP:0001317	Abnormal cerebellum morphology
5449	POU1F1	HP:0002615	Hypotension
5449	POU1F1	HP:0025483	Abnormal circulating thyroglobulin level
5449	POU1F1	HP:0000158	Macroglossia
5449	POU1F1	HP:0000141	Amenorrhea
5449	POU1F1	HP:0031218	Inappropriate antidiuretic hormone secretion
5449	POU1F1	HP:0031219	Reduced radioactive iodine uptake
5449	POU1F1	HP:0002750	Delayed skeletal maturation
5449	POU1F1	HP:0002019	Constipation
5449	POU1F1	HP:0005990	Thyroid hypoplasia
5449	POU1F1	HP:0002007	Frontal bossing
5449	POU1F1	HP:0004637	Decreased cervical spine mobility
5449	POU1F1	HP:0011800	Midface retrusion
5449	POU1F1	HP:0002045	Hypothermia
5449	POU1F1	HP:0010442	Polydactyly
5449	POU1F1	HP:0011755	Ectopic posterior pituitary
5449	POU1F1	HP:0005930	Abnormal epiphysis morphology
5449	POU1F1	HP:0008187	Absence of secondary sex characteristics
5449	POU1F1	HP:0008245	Pituitary hypothyroidism
5449	POU1F1	HP:0008202	Reduced circulating prolactin concentration
5449	POU1F1	HP:0003593	Infantile onset
5449	POU1F1	HP:0011968	Feeding difficulties
5449	POU1F1	HP:0010627	Anterior pituitary hypoplasia
5449	POU1F1	HP:0010626	Anterior pituitary agenesis
5449	POU1F1	HP:0200028	Pretibial myxedema
5449	POU1F1	HP:0008501	Median cleft lip and palate
5449	POU1F1	HP:0001943	Hypoglycemia
5449	POU1F1	HP:0000609	Optic nerve hypoplasia
5449	POU1F1	HP:0011344	Severe global developmental delay
5449	POU1F1	HP:0001999	Abnormal facial shape
5449	POU1F1	HP:0004322	Short stature
5449	POU1F1	HP:0005625	Osteoporosis of vertebrae
5449	POU1F1	HP:0012731	Ectopic anterior pituitary gland
5449	POU1F1	HP:0011437	Maternal autoimmune disease
5449	POU1F1	HP:0012758	Neurodevelopmental delay
5449	POU1F1	HP:0000789	Infertility
5449	POU1F1	HP:0003196	Short nose
5449	POU1F1	HP:0004491	Large posterior fontanelle
5449	POU1F1	HP:0000871	Panhypopituitarism
5449	POU1F1	HP:0000839	Pituitary dwarfism
5449	POU1F1	HP:0000821	Hypothyroidism
5449	POU1F1	HP:0000824	Decreased response to growth hormone stimulation test
5449	POU1F1	HP:0000823	Delayed puberty
5449	POU1F1	HP:0040075	Hypopituitarism
5449	POU1F1	HP:0040086	Abnormal prolactin level
5449	POU1F1	HP:0033078	Decreased circulating free T4 concentration
5449	POU1F1	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test
5449	POU1F1	HP:0010311	Aplasia/Hypoplasia of the breasts
5449	POU1F1	HP:0034323	Reduced circulating growth hormone concentration
5449	POU1F1	HP:0000952	Jaundice
5449	POU1F1	HP:0000938	Osteopenia
5449	POU1F1	HP:0009381	Short finger
5449	POU1F1	HP:0000282	Facial edema
5449	POU1F1	HP:0000270	Delayed cranial suture closure
5449	POU1F1	HP:0000272	Malar flattening
5449	POU1F1	HP:0025502	Overweight
5449	POU1F1	HP:0001537	Umbilical hernia
5449	POU1F1	HP:0001508	Failure to thrive
5449	POU1F1	HP:0001510	Growth delay
5449	POU1F1	HP:0031507	Decreased circulating T4 concentration
5449	POU1F1	HP:0012378	Fatigue
5449	POU1F1	HP:0006579	Prolonged neonatal jaundice
5449	POU1F1	HP:0001609	Hoarse voice
5449	POU1F1	HP:0002920	Decreased circulating ACTH level
5449	POU1F1	HP:0001662	Bradycardia
5449	POU1F1	HP:0000407	Sensorineural hearing impairment
5449	POU1F1	HP:0005280	Depressed nasal bridge
5449	POU1F1	HP:0000478	Abnormality of the eye
5449	POU1F1	HP:0000490	Deeply set eye
5449	POU1F1	HP:0000463	Anteverted nares
5449	POU1F1	HP:0011120	Concave nasal ridge
5449	POU1F1	HP:0000457	Depressed nasal ridge
5449	POU1F1	HP:0000470	Short neck
5449	POU1F1	HP:0011297	Abnormal digit morphology
5449	POU1F1	HP:0030344	Decreased circulating luteinizing hormone level
5449	POU1F1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
5449	POU1F1	HP:0011220	Prominent forehead
5450	POU2AF1	HP:0001278	Orthostatic hypotension
5450	POU2AF1	HP:0001262	Excessive daytime somnolence
5450	POU2AF1	HP:0001399	Hepatic failure
5450	POU2AF1	HP:0001395	Hepatic fibrosis
5450	POU2AF1	HP:0001394	Cirrhosis
5450	POU2AF1	HP:0002613	Biliary cirrhosis
5450	POU2AF1	HP:0002608	Celiac disease
5450	POU2AF1	HP:0012115	Hepatitis
5450	POU2AF1	HP:0001409	Portal hypertension
5450	POU2AF1	HP:0001402	Hepatocellular carcinoma
5450	POU2AF1	HP:0003496	Increased circulating IgM level
5450	POU2AF1	HP:0003493	Antinuclear antibody positivity
5450	POU2AF1	HP:0011971	Dermatographic urticaria
5450	POU2AF1	HP:0002360	Sleep disturbance
5450	POU2AF1	HP:0003073	Hypoalbuminemia
5450	POU2AF1	HP:0004386	Gastrointestinal inflammation
5450	POU2AF1	HP:0003119	Abnormal circulating lipid concentration
5450	POU2AF1	HP:0003155	Elevated circulating alkaline phosphatase concentration
5450	POU2AF1	HP:0000820	Abnormality of the thyroid gland
5450	POU2AF1	HP:0003270	Abdominal distention
5450	POU2AF1	HP:0003261	Increased circulating IgA level
5450	POU2AF1	HP:0000989	Pruritus
5450	POU2AF1	HP:0000953	Hyperpigmentation of the skin
5450	POU2AF1	HP:0000952	Jaundice
5450	POU2AF1	HP:0000939	Osteoporosis
5450	POU2AF1	HP:0012203	Onychomycosis
5450	POU2AF1	HP:0001541	Ascites
5450	POU2AF1	HP:0002841	Recurrent fungal infections
5450	POU2AF1	HP:0012378	Fatigue
5450	POU2AF1	HP:0011040	Abnormal intrahepatic bile duct morphology
5450	POU2AF1	HP:0002908	Conjugated hyperbilirubinemia
5450	POU2AF1	HP:0002960	Autoimmunity
5455	POU3F3	HP:0001290	Generalized hypotonia
5455	POU3F3	HP:0001250	Seizure
5455	POU3F3	HP:0001249	Intellectual disability
5455	POU3F3	HP:0001266	Choreoathetosis
5455	POU3F3	HP:0001263	Global developmental delay
5455	POU3F3	HP:0001257	Spasticity
5455	POU3F3	HP:0000028	Cryptorchidism
5455	POU3F3	HP:0000006	Autosomal dominant inheritance
5455	POU3F3	HP:0040326	Hypoplasia of the olfactory bulb
5455	POU3F3	HP:0002079	Hypoplasia of the corpus callosum
5455	POU3F3	HP:0002188	Delayed CNS myelination
5455	POU3F3	HP:0002179	Opisthotonus
5455	POU3F3	HP:0002172	Postural instability
5455	POU3F3	HP:0002360	Sleep disturbance
5455	POU3F3	HP:0002307	Drooling
5455	POU3F3	HP:0000750	Delayed speech and language development
5455	POU3F3	HP:0000729	Autistic behavior
5455	POU3F3	HP:0000286	Epicanthus
5455	POU3F3	HP:0000297	Facial hypotonia
5455	POU3F3	HP:0000378	Cupped ear
5455	POU3F3	HP:0000411	Protruding ear
5456	POU3F4	HP:0001139	Choroideremia
5456	POU3F4	HP:0008619	Bilateral sensorineural hearing impairment
5456	POU3F4	HP:0001256	Intellectual disability, mild
5456	POU3F4	HP:0001250	Seizure
5456	POU3F4	HP:0001251	Ataxia
5456	POU3F4	HP:0001263	Global developmental delay
5456	POU3F4	HP:0001347	Hyperreflexia
5456	POU3F4	HP:0008897	Postnatal growth retardation
5456	POU3F4	HP:0007675	Progressive night blindness
5456	POU3F4	HP:0007663	Reduced visual acuity
5456	POU3F4	HP:0002750	Delayed skeletal maturation
5456	POU3F4	HP:0001419	X-linked recessive inheritance
5456	POU3F4	HP:0002066	Gait ataxia
5456	POU3F4	HP:0002075	Dysdiadochokinesis
5456	POU3F4	HP:0011748	Adrenocorticotropic hormone deficiency
5456	POU3F4	HP:0003484	Upper limb muscle weakness
5456	POU3F4	HP:0008245	Pituitary hypothyroidism
5456	POU3F4	HP:0010625	Anterior pituitary dysgenesis
5456	POU3F4	HP:0008527	Congenital sensorineural hearing impairment
5456	POU3F4	HP:0200065	Chorioretinal degeneration
5456	POU3F4	HP:0030532	Visual acuity test abnormality
5456	POU3F4	HP:0000639	Nystagmus
5456	POU3F4	HP:0000648	Optic atrophy
5456	POU3F4	HP:0001920	Renal artery stenosis
5456	POU3F4	HP:0011448	Ankle clonus
5456	POU3F4	HP:0004458	Dilatated internal auditory canal
5456	POU3F4	HP:0000863	Central diabetes insipidus
5456	POU3F4	HP:0000830	Anterior hypopituitarism
5456	POU3F4	HP:0000822	Hypertension
5456	POU3F4	HP:0000824	Decreased response to growth hormone stimulation test
5456	POU3F4	HP:0005109	Abnormality of the Achilles tendon
5456	POU3F4	HP:0001510	Growth delay
5456	POU3F4	HP:0001513	Obesity
5456	POU3F4	HP:0000381	Stapes ankylosis
5456	POU3F4	HP:0000375	Abnormal cochlea morphology
5456	POU3F4	HP:0007937	Reticular pigmentary degeneration
5456	POU3F4	HP:0007994	Peripheral visual field loss
5456	POU3F4	HP:0000408	Progressive sensorineural hearing impairment
5456	POU3F4	HP:0000407	Sensorineural hearing impairment
5456	POU3F4	HP:0000405	Conductive hearing impairment
5456	POU3F4	HP:0000486	Strabismus
5456	POU3F4	HP:0000410	Mixed hearing impairment
5456	POU3F4	HP:0000532	Abnormal chorioretinal morphology
5457	POU4F1	HP:0002470	Nonprogressive cerebellar ataxia
5457	POU4F1	HP:0007256	Abnormal pyramidal sign
5457	POU4F1	HP:0002403	Positive Romberg sign
5457	POU4F1	HP:0001256	Intellectual disability, mild
5457	POU4F1	HP:0001252	Hypotonia
5457	POU4F1	HP:0001251	Ataxia
5457	POU4F1	HP:0001260	Dysarthria
5457	POU4F1	HP:0001263	Global developmental delay
5457	POU4F1	HP:0002536	Abnormal cortical gyration
5457	POU4F1	HP:0001348	Brisk reflexes
5457	POU4F1	HP:0000006	Autosomal dominant inheritance
5457	POU4F1	HP:0001310	Dysmetria
5457	POU4F1	HP:0002650	Scoliosis
5457	POU4F1	HP:0001321	Cerebellar hypoplasia
5457	POU4F1	HP:0001319	Neonatal hypotonia
5457	POU4F1	HP:0000179	Thick lower lip vermilion
5457	POU4F1	HP:0000160	Narrow mouth
5457	POU4F1	HP:0002019	Constipation
5457	POU4F1	HP:0002003	Large forehead
5457	POU4F1	HP:0100540	Palpebral edema
5457	POU4F1	HP:0002080	Intention tremor
5457	POU4F1	HP:0002120	Cerebral cortical atrophy
5457	POU4F1	HP:0002354	Memory impairment
5457	POU4F1	HP:0002317	Unsteady gait
5457	POU4F1	HP:0000639	Nystagmus
5457	POU4F1	HP:0400005	Short ear
5457	POU4F1	HP:0000750	Delayed speech and language development
5457	POU4F1	HP:0000718	Aggressive behavior
5457	POU4F1	HP:0000729	Autistic behavior
5457	POU4F1	HP:0010296	Ankyloglossia
5457	POU4F1	HP:0000256	Macrocephaly
5457	POU4F1	HP:0000276	Long face
5457	POU4F1	HP:0025517	Hypoplastic hippocampus
5457	POU4F1	HP:0011098	Speech apraxia
5457	POU4F1	HP:0011067	Mesiodens
5457	POU4F1	HP:0000343	Long philtrum
5457	POU4F1	HP:0000307	Pointed chin
5457	POU4F1	HP:0011166	Focal myoclonic seizure
5457	POU4F1	HP:0000486	Strabismus
5457	POU4F1	HP:0000490	Deeply set eye
5457	POU4F1	HP:0000463	Anteverted nares
5457	POU4F1	HP:0012450	Chronic constipation
5457	POU4F1	HP:0012433	Abnormal social behavior
5457	POU4F1	HP:0000445	Wide nose
5457	POU4F1	HP:0000414	Bulbous nose
5457	POU4F1	HP:0000565	Esotropia
5459	POU4F3	HP:0000006	Autosomal dominant inheritance
5459	POU4F3	HP:0000365	Hearing impairment
5468	PPARG	HP:0001176	Large hands
5468	PPARG	HP:0003758	Reduced subcutaneous adipose tissue
5468	PPARG	HP:0003707	Calf muscle pseudohypertrophy
5468	PPARG	HP:0003712	Skeletal muscle hypertrophy
5468	PPARG	HP:0001249	Intellectual disability
5468	PPARG	HP:0001263	Global developmental delay
5468	PPARG	HP:0010982	Polygenic inheritance
5468	PPARG	HP:0008665	Clitoral hypertrophy
5468	PPARG	HP:0012062	Bone cyst
5468	PPARG	HP:0001397	Hepatic steatosis
5468	PPARG	HP:0001394	Cirrhosis
5468	PPARG	HP:0008887	Adipose tissue loss
5468	PPARG	HP:0012084	Abnormality of skeletal muscle fiber size
5468	PPARG	HP:0007457	Prominent veins on trunk
5468	PPARG	HP:0000007	Autosomal recessive inheritance
5468	PPARG	HP:0000006	Autosomal dominant inheritance
5468	PPARG	HP:0002621	Atherosclerosis
5468	PPARG	HP:0000158	Macroglossia
5468	PPARG	HP:0000141	Amenorrhea
5468	PPARG	HP:0000147	Polycystic ovaries
5468	PPARG	HP:0003326	Myalgia
5468	PPARG	HP:0005978	Type II diabetes mellitus
5468	PPARG	HP:0100578	Lipoatrophy
5468	PPARG	HP:0010465	Precocious puberty in females
5468	PPARG	HP:0002155	Hypertriglyceridemia
5468	PPARG	HP:0002149	Hyperuricemia
5468	PPARG	HP:0002162	Low posterior hairline
5468	PPARG	HP:0002240	Hepatomegaly
5468	PPARG	HP:0003584	Late onset
5468	PPARG	HP:0002230	Generalized hirsutism
5468	PPARG	HP:0001007	Hirsutism
5468	PPARG	HP:0001015	Prominent superficial veins
5468	PPARG	HP:0100601	Eclampsia
5468	PPARG	HP:0100602	Preeclampsia
5468	PPARG	HP:0100607	Dysmenorrhea
5468	PPARG	HP:0009800	Maternal diabetes
5468	PPARG	HP:0003635	Loss of subcutaneous adipose tissue in limbs
5468	PPARG	HP:0003621	Juvenile onset
5468	PPARG	HP:0031819	Increased waist to hip ratio
5468	PPARG	HP:0009017	Loss of gluteal subcutaneous adipose tissue
5468	PPARG	HP:0001999	Abnormal facial shape
5468	PPARG	HP:0005616	Accelerated skeletal maturation
5468	PPARG	HP:0003074	Hyperglycemia
5468	PPARG	HP:0011407	Proportionate tall stature
5468	PPARG	HP:0011462	Young adult onset
5468	PPARG	HP:0009125	Lipodystrophy
5468	PPARG	HP:0000786	Primary amenorrhea
5468	PPARG	HP:0003124	Hypercholesterolemia
5468	PPARG	HP:0030796	Increased C-peptide level
5468	PPARG	HP:0003198	Myopathy
5468	PPARG	HP:0000876	Oligomenorrhea
5468	PPARG	HP:0000855	Insulin resistance
5468	PPARG	HP:0000869	Secondary amenorrhea
5468	PPARG	HP:0000831	Insulin-resistant diabetes mellitus
5468	PPARG	HP:0000842	Hyperinsulinemia
5468	PPARG	HP:0000819	Diabetes mellitus
5468	PPARG	HP:0000822	Hypertension
5468	PPARG	HP:0003233	Decreased HDL cholesterol concentration
5468	PPARG	HP:0003247	Overgrowth of external genitalia
5468	PPARG	HP:0000998	Hypertrichosis
5468	PPARG	HP:0000991	Xanthomatosis
5468	PPARG	HP:0000956	Acanthosis nigricans
5468	PPARG	HP:0000963	Thin skin
5468	PPARG	HP:0008065	Aplasia/Hypoplasia of the skin
5468	PPARG	HP:0000292	Loss of facial adipose tissue
5468	PPARG	HP:0000294	Low anterior hairline
5468	PPARG	HP:0001508	Failure to thrive
5468	PPARG	HP:0001513	Obesity
5468	PPARG	HP:0012340	Decreased resting energy expenditure
5468	PPARG	HP:0000336	Prominent supraorbital ridges
5468	PPARG	HP:0001677	Coronary artery atherosclerosis
5468	PPARG	HP:0001639	Hypertrophic cardiomyopathy
5468	PPARG	HP:0001635	Congestive heart failure
5468	PPARG	HP:0000303	Mandibular prognathia
5468	PPARG	HP:0001733	Pancreatitis
5468	PPARG	HP:0001744	Splenomegaly
5468	PPARG	HP:0001833	Long foot
5476	CTSA	HP:0001250	Seizure
5476	CTSA	HP:0001249	Intellectual disability
5476	CTSA	HP:0000007	Autosomal recessive inheritance
5476	CTSA	HP:0002652	Skeletal dysplasia
5476	CTSA	HP:0001433	Hepatosplenomegaly
5476	CTSA	HP:0008166	Decreased beta-galactosidase activity
5476	CTSA	HP:0003468	Abnormal vertebral morphology
5476	CTSA	HP:0010729	Cherry red spot of the macula
5476	CTSA	HP:0003510	Severe short stature
5476	CTSA	HP:0001028	Hemangioma
5476	CTSA	HP:0000925	Abnormality of the vertebral column
5476	CTSA	HP:0003271	Visceromegaly
5476	CTSA	HP:0000943	Dysostosis multiplex
5476	CTSA	HP:0000280	Coarse facial features
5476	CTSA	HP:0007759	Opacification of the corneal stroma
5476	CTSA	HP:0000365	Hearing impairment
5476	CTSA	HP:0007957	Corneal opacity
5476	CTSA	HP:0001790	Nonimmune hydrops fetalis
5476	CTSA	HP:0000524	Conjunctival telangiectasia
5479	PPIB	HP:0008873	Disproportionate short-limb short stature
5479	PPIB	HP:0000007	Autosomal recessive inheritance
5479	PPIB	HP:0002650	Scoliosis
5479	PPIB	HP:0002645	Wormian bones
5479	PPIB	HP:0002757	Recurrent fractures
5479	PPIB	HP:0003023	Bowing of limbs due to multiple fractures
5479	PPIB	HP:0000767	Pectus excavatum
5479	PPIB	HP:0000768	Pectus carinatum
5479	PPIB	HP:0000703	Dentinogenesis imperfecta
5479	PPIB	HP:0000926	Platyspondyly
5479	PPIB	HP:0000923	Beaded ribs
5479	PPIB	HP:0005855	Multiple prenatal fractures
5479	PPIB	HP:0002808	Kyphosis
5479	PPIB	HP:0006385	Short lower limbs
5479	PPIB	HP:0005474	Decreased calvarial ossification
5479	PPIB	HP:0000592	Blue sclerae
5495	PPM1B	HP:0001250	Seizure
5495	PPM1B	HP:0001252	Hypotonia
5495	PPM1B	HP:0001263	Global developmental delay
5495	PPM1B	HP:0000135	Hypogonadism
5495	PPM1B	HP:0002007	Frontal bossing
5495	PPM1B	HP:0200125	Mitochondrial respiratory chain defects
5495	PPM1B	HP:0002342	Intellectual disability, moderate
5495	PPM1B	HP:0001943	Hypoglycemia
5495	PPM1B	HP:0000787	Nephrolithiasis
5495	PPM1B	HP:0003131	Cystinuria
5495	PPM1B	HP:0003128	Lactic acidosis
5495	PPM1B	HP:0001558	Decreased fetal movement
5495	PPM1B	HP:0001508	Failure to thrive
5495	PPM1B	HP:0001510	Growth delay
5495	PPM1B	HP:0001611	Hypernasal speech
5495	PPM1B	HP:0002901	Hypocalcemia
5495	PPM1B	HP:0000368	Low-set, posteriorly rotated ears
5495	PPM1B	HP:0005280	Depressed nasal bridge
5495	PPM1B	HP:0000527	Long eyelashes
5498	PPOX	HP:0001250	Seizure
5498	PPOX	HP:0001265	Hyporeflexia
5498	PPOX	HP:0002595	Ileus
5498	PPOX	HP:0001259	Coma
5498	PPOX	HP:0001392	Abnormality of the liver
5498	PPOX	HP:0001347	Hyperreflexia
5498	PPOX	HP:0001324	Muscle weakness
5498	PPOX	HP:0000011	Neurogenic bladder
5498	PPOX	HP:0000006	Autosomal dominant inheritance
5498	PPOX	HP:0008997	Proximal muscle weakness in upper limbs
5498	PPOX	HP:0031218	Inappropriate antidiuretic hormone secretion
5498	PPOX	HP:0001402	Hepatocellular carcinoma
5498	PPOX	HP:0002018	Nausea
5498	PPOX	HP:0002019	Constipation
5498	PPOX	HP:0002027	Abdominal pain
5498	PPOX	HP:0002013	Vomiting
5498	PPOX	HP:0010473	Porphyrinuria
5498	PPOX	HP:0010472	Abnormal circulating porphyrin concentration
5498	PPOX	HP:0003474	Somatic sensory dysfunction
5498	PPOX	HP:0003470	Paralysis
5498	PPOX	HP:0003418	Back pain
5498	PPOX	HP:0002273	Tetraparesis
5498	PPOX	HP:0002203	Respiratory paralysis
5498	PPOX	HP:0100749	Chest pain
5498	PPOX	HP:0011999	Paranoia
5498	PPOX	HP:0001056	Milia
5498	PPOX	HP:0001010	Hypopigmentation of the skin
5498	PPOX	HP:0200037	Skin vesicle
5498	PPOX	HP:0009830	Peripheral neuropathy
5498	PPOX	HP:0001072	Thickened skin
5498	PPOX	HP:0200041	Skin erosion
5498	PPOX	HP:0100699	Scarring
5498	PPOX	HP:0007178	Motor polyneuropathy
5498	PPOX	HP:0012622	Chronic kidney disease
5498	PPOX	HP:0001903	Anemia
5498	PPOX	HP:0011355	Localized skin lesion
5498	PPOX	HP:0000738	Hallucinations
5498	PPOX	HP:0000739	Anxiety
5498	PPOX	HP:0000709	Psychosis
5498	PPOX	HP:0000708	Atypical behavior
5498	PPOX	HP:0000707	Abnormality of the nervous system
5498	PPOX	HP:0011462	Young adult onset
5498	PPOX	HP:0034283	Increased fecal protoporphyrin concentration
5498	PPOX	HP:0003163	Elevated urinary delta-aminolevulinic acid
5498	PPOX	HP:0000822	Hypertension
5498	PPOX	HP:0000998	Hypertrichosis
5498	PPOX	HP:0000992	Cutaneous photosensitivity
5498	PPOX	HP:0000953	Hyperpigmentation of the skin
5498	PPOX	HP:0008066	Abnormal blistering of the skin
5498	PPOX	HP:0012217	Increased urinary porphobilinogen
5498	PPOX	HP:0012379	Abnormal circulating enzyme concentration or activity
5498	PPOX	HP:0002910	Elevated hepatic transaminase
5498	PPOX	HP:0002902	Hyponatremia
5498	PPOX	HP:0012332	Abnormal autonomic nervous system physiology
5498	PPOX	HP:0001649	Tachycardia
5500	PPP1CB	HP:0001156	Brachydactyly
5500	PPP1CB	HP:0009890	High anterior hairline
5500	PPP1CB	HP:0001290	Generalized hypotonia
5500	PPP1CB	HP:0001252	Hypotonia
5500	PPP1CB	HP:0001249	Intellectual disability
5500	PPP1CB	HP:0001263	Global developmental delay
5500	PPP1CB	HP:0001231	Abnormal fingernail morphology
5500	PPP1CB	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5500	PPP1CB	HP:0002553	Highly arched eyebrow
5500	PPP1CB	HP:0001382	Joint hypermobility
5500	PPP1CB	HP:0001363	Craniosynostosis
5500	PPP1CB	HP:0000028	Cryptorchidism
5500	PPP1CB	HP:0008872	Feeding difficulties in infancy
5500	PPP1CB	HP:0000006	Autosomal dominant inheritance
5500	PPP1CB	HP:0001305	Dandy-Walker malformation
5500	PPP1CB	HP:0002650	Scoliosis
5500	PPP1CB	HP:0002616	Aortic root aneurysm
5500	PPP1CB	HP:0000179	Thick lower lip vermilion
5500	PPP1CB	HP:0000193	Bifid uvula
5500	PPP1CB	HP:0000174	Abnormal palate morphology
5500	PPP1CB	HP:0001480	Freckling
5500	PPP1CB	HP:0007678	Lacrimal duct stenosis
5500	PPP1CB	HP:0002750	Delayed skeletal maturation
5500	PPP1CB	HP:0002002	Deep philtrum
5500	PPP1CB	HP:0002007	Frontal bossing
5500	PPP1CB	HP:0011712	Right bundle branch block
5500	PPP1CB	HP:0002162	Low posterior hairline
5500	PPP1CB	HP:0003577	Congenital onset
5500	PPP1CB	HP:0002217	Slow-growing hair
5500	PPP1CB	HP:0002212	Curly hair
5500	PPP1CB	HP:0002209	Sparse scalp hair
5500	PPP1CB	HP:0002208	Coarse hair
5500	PPP1CB	HP:0010648	Dermal translucency
5500	PPP1CB	HP:0011968	Feeding difficulties
5500	PPP1CB	HP:0007099	Chiari type I malformation
5500	PPP1CB	HP:0009811	Abnormality of the elbow
5500	PPP1CB	HP:0004969	Peripheral pulmonary artery stenosis
5500	PPP1CB	HP:0000639	Nystagmus
5500	PPP1CB	HP:0000609	Optic nerve hypoplasia
5500	PPP1CB	HP:0000687	Widely spaced teeth
5500	PPP1CB	HP:0000670	Carious teeth
5500	PPP1CB	HP:0004322	Short stature
5500	PPP1CB	HP:0000767	Pectus excavatum
5500	PPP1CB	HP:0000768	Pectus carinatum
5500	PPP1CB	HP:0000739	Anxiety
5500	PPP1CB	HP:0000750	Delayed speech and language development
5500	PPP1CB	HP:0011461	Fetal onset
5500	PPP1CB	HP:0003196	Short nose
5500	PPP1CB	HP:0004482	Relative macrocephaly
5500	PPP1CB	HP:0004467	Preauricular pit
5500	PPP1CB	HP:0000957	Cafe-au-lait spot
5500	PPP1CB	HP:0000963	Thin skin
5500	PPP1CB	HP:0008070	Sparse hair
5500	PPP1CB	HP:0000286	Epicanthus
5500	PPP1CB	HP:0000256	Macrocephaly
5500	PPP1CB	HP:0005108	Abnormal intervertebral disk morphology
5500	PPP1CB	HP:0000238	Hydrocephalus
5500	PPP1CB	HP:0000219	Thin upper lip vermilion
5500	PPP1CB	HP:0000218	High palate
5500	PPP1CB	HP:0001561	Polyhydramnios
5500	PPP1CB	HP:0000233	Thin vermilion border
5500	PPP1CB	HP:0000207	Triangular mouth
5500	PPP1CB	HP:0001508	Failure to thrive
5500	PPP1CB	HP:0000396	Overfolded helix
5500	PPP1CB	HP:0000391	Thickened helices
5500	PPP1CB	HP:0005180	Tricuspid regurgitation
5500	PPP1CB	HP:0000365	Hearing impairment
5500	PPP1CB	HP:0000358	Posteriorly rotated ears
5500	PPP1CB	HP:0000369	Low-set ears
5500	PPP1CB	HP:0000368	Low-set, posteriorly rotated ears
5500	PPP1CB	HP:0000341	Narrow forehead
5500	PPP1CB	HP:0000343	Long philtrum
5500	PPP1CB	HP:0001680	Coarctation of aorta
5500	PPP1CB	HP:0000348	High forehead
5500	PPP1CB	HP:0012304	Hypoplastic aortic arch
5500	PPP1CB	HP:0000319	Smooth philtrum
5500	PPP1CB	HP:0000316	Hypertelorism
5500	PPP1CB	HP:0001643	Patent ductus arteriosus
5500	PPP1CB	HP:0001642	Pulmonic stenosis
5500	PPP1CB	HP:0000329	Facial hemangioma
5500	PPP1CB	HP:0001653	Mitral regurgitation
5500	PPP1CB	HP:0001655	Patent foramen ovale
5500	PPP1CB	HP:0001629	Ventricular septal defect
5500	PPP1CB	HP:0001639	Hypertrophic cardiomyopathy
5500	PPP1CB	HP:0001631	Atrial septal defect
5500	PPP1CB	HP:0006610	Wide intermamillary distance
5500	PPP1CB	HP:0005338	Sparse lateral eyebrow
5500	PPP1CB	HP:0000400	Macrotia
5500	PPP1CB	HP:0000494	Downslanted palpebral fissures
5500	PPP1CB	HP:0000463	Anteverted nares
5500	PPP1CB	HP:0012450	Chronic constipation
5500	PPP1CB	HP:0000475	Broad neck
5500	PPP1CB	HP:0000470	Short neck
5500	PPP1CB	HP:0000465	Webbed neck
5500	PPP1CB	HP:0000445	Wide nose
5500	PPP1CB	HP:0000430	Underdeveloped nasal alae
5500	PPP1CB	HP:0000508	Ptosis
5500	PPP1CB	HP:0001800	Hypoplastic toenails
5500	PPP1CB	HP:0000582	Upslanted palpebral fissure
5500	PPP1CB	HP:0011220	Prominent forehead
5506	PPP1R3A	HP:0000006	Autosomal dominant inheritance
5506	PPP1R3A	HP:0005978	Type II diabetes mellitus
5506	PPP1R3A	HP:0003584	Late onset
5506	PPP1R3A	HP:0031819	Increased waist to hip ratio
5506	PPP1R3A	HP:0000855	Insulin resistance
5515	PPP2CA	HP:0001252	Hypotonia
5515	PPP2CA	HP:0001263	Global developmental delay
5515	PPP2CA	HP:0007359	Focal-onset seizure
5515	PPP2CA	HP:0007334	Bilateral tonic-clonic seizure with focal onset
5515	PPP2CA	HP:0000023	Inguinal hernia
5515	PPP2CA	HP:0001357	Plagiocephaly
5515	PPP2CA	HP:0000006	Autosomal dominant inheritance
5515	PPP2CA	HP:0002007	Frontal bossing
5515	PPP2CA	HP:0002069	Bilateral tonic-clonic seizure
5515	PPP2CA	HP:0002079	Hypoplasia of the corpus callosum
5515	PPP2CA	HP:0002121	Generalized non-motor (absence) seizure
5515	PPP2CA	HP:0002119	Ventriculomegaly
5515	PPP2CA	HP:0002188	Delayed CNS myelination
5515	PPP2CA	HP:0003593	Infantile onset
5515	PPP2CA	HP:0100716	Self-injurious behavior
5515	PPP2CA	HP:0007018	Attention deficit hyperactivity disorder
5515	PPP2CA	HP:0011968	Feeding difficulties
5515	PPP2CA	HP:0002365	Hypoplasia of the brainstem
5515	PPP2CA	HP:0002376	Developmental regression
5515	PPP2CA	HP:0003623	Neonatal onset
5515	PPP2CA	HP:0003621	Juvenile onset
5515	PPP2CA	HP:0000629	Periorbital fullness
5515	PPP2CA	HP:0031936	Delayed ability to walk
5515	PPP2CA	HP:0000750	Delayed speech and language development
5515	PPP2CA	HP:0000729	Autistic behavior
5515	PPP2CA	HP:0011463	Childhood onset
5515	PPP2CA	HP:0011623	Muscular ventricular septal defect
5515	PPP2CA	HP:0000954	Single transverse palmar crease
5515	PPP2CA	HP:0000286	Epicanthus
5515	PPP2CA	HP:0000256	Macrocephaly
5515	PPP2CA	HP:0000252	Microcephaly
5515	PPP2CA	HP:0000218	High palate
5515	PPP2CA	HP:0001537	Umbilical hernia
5515	PPP2CA	HP:0000337	Broad forehead
5515	PPP2CA	HP:0000316	Hypertelorism
5515	PPP2CA	HP:0000322	Short philtrum
5515	PPP2CA	HP:0001631	Atrial septal defect
5515	PPP2CA	HP:0000485	Megalocornea
5515	PPP2CA	HP:0000455	Broad nasal tip
5515	PPP2CA	HP:0000520	Proptosis
5515	PPP2CA	HP:0000505	Visual impairment
5518	PPP2R1A	HP:0002465	Poor speech
5518	PPP2R1A	HP:0010864	Intellectual disability, severe
5518	PPP2R1A	HP:0001274	Agenesis of corpus callosum
5518	PPP2R1A	HP:0001250	Seizure
5518	PPP2R1A	HP:0001252	Hypotonia
5518	PPP2R1A	HP:0001249	Intellectual disability
5518	PPP2R1A	HP:0001263	Global developmental delay
5518	PPP2R1A	HP:0002540	Inability to walk
5518	PPP2R1A	HP:0001385	Hip dysplasia
5518	PPP2R1A	HP:0001382	Joint hypermobility
5518	PPP2R1A	HP:0000023	Inguinal hernia
5518	PPP2R1A	HP:0001357	Plagiocephaly
5518	PPP2R1A	HP:0001344	Absent speech
5518	PPP2R1A	HP:0000006	Autosomal dominant inheritance
5518	PPP2R1A	HP:0002650	Scoliosis
5518	PPP2R1A	HP:0000194	Open mouth
5518	PPP2R1A	HP:0000151	Aplasia of the uterus
5518	PPP2R1A	HP:0000122	Unilateral renal agenesis
5518	PPP2R1A	HP:0002066	Gait ataxia
5518	PPP2R1A	HP:0002079	Hypoplasia of the corpus callosum
5518	PPP2R1A	HP:0002119	Ventriculomegaly
5518	PPP2R1A	HP:0002188	Delayed CNS myelination
5518	PPP2R1A	HP:0002194	Delayed gross motor development
5518	PPP2R1A	HP:0100704	Cerebral visual impairment
5518	PPP2R1A	HP:0010721	Abnormal hair whorl
5518	PPP2R1A	HP:0010804	Tented upper lip vermilion
5518	PPP2R1A	HP:0004209	Clinodactyly of the 5th finger
5518	PPP2R1A	HP:0000609	Optic nerve hypoplasia
5518	PPP2R1A	HP:0010055	Broad hallux
5518	PPP2R1A	HP:0006955	Olivopontocerebellar hypoplasia
5518	PPP2R1A	HP:0000752	Hyperactivity
5518	PPP2R1A	HP:0000767	Pectus excavatum
5518	PPP2R1A	HP:0009179	Deviation of the 5th finger
5518	PPP2R1A	HP:0011471	Gastrostomy tube feeding in infancy
5518	PPP2R1A	HP:0003250	Aplasia of the vagina
5518	PPP2R1A	HP:0100259	Postaxial polydactyly
5518	PPP2R1A	HP:0000297	Facial hypotonia
5518	PPP2R1A	HP:0000238	Hydrocephalus
5518	PPP2R1A	HP:0000252	Microcephaly
5518	PPP2R1A	HP:0012304	Hypoplastic aortic arch
5518	PPP2R1A	HP:0000316	Hypertelorism
5518	PPP2R1A	HP:0025607	Upper eyelid entropion
5518	PPP2R1A	HP:0000324	Facial asymmetry
5518	PPP2R1A	HP:0000478	Abnormality of the eye
5518	PPP2R1A	HP:0000494	Downslanted palpebral fissures
5518	PPP2R1A	HP:0000463	Anteverted nares
5518	PPP2R1A	HP:0012448	Delayed myelination
5518	PPP2R1A	HP:0012450	Chronic constipation
5518	PPP2R1A	HP:0005487	Prominent metopic ridge
5518	PPP2R1A	HP:0000505	Visual impairment
5519	PPP2R1B	HP:0000006	Autosomal dominant inheritance
5519	PPP2R1B	HP:0001428	Somatic mutation
5519	PPP2R1B	HP:0030078	Lung adenocarcinoma
5519	PPP2R1B	HP:0006519	Alveolar cell carcinoma
5519	PPP2R1B	HP:0030358	Non-small cell lung carcinoma
5521	PPP2R2B	HP:0007256	Abnormal pyramidal sign
5521	PPP2R2B	HP:0002406	Limb dysmetria
5521	PPP2R2B	HP:0001272	Cerebellar atrophy
5521	PPP2R2B	HP:0001288	Gait disturbance
5521	PPP2R2B	HP:0001251	Ataxia
5521	PPP2R2B	HP:0001260	Dysarthria
5521	PPP2R2B	HP:0002530	Axial dystonia
5521	PPP2R2B	HP:0001347	Hyperreflexia
5521	PPP2R2B	HP:0000006	Autosomal dominant inheritance
5521	PPP2R2B	HP:0001310	Dysmetria
5521	PPP2R2B	HP:0001317	Abnormal cerebellum morphology
5521	PPP2R2B	HP:0001300	Parkinsonism
5521	PPP2R2B	HP:0002080	Intention tremor
5521	PPP2R2B	HP:0100543	Cognitive impairment
5521	PPP2R2B	HP:0002067	Bradykinesia
5521	PPP2R2B	HP:0002075	Dysdiadochokinesis
5521	PPP2R2B	HP:0002073	Progressive cerebellar ataxia
5521	PPP2R2B	HP:0002059	Cerebral atrophy
5521	PPP2R2B	HP:0002120	Cerebral cortical atrophy
5521	PPP2R2B	HP:0002174	Postural tremor
5521	PPP2R2B	HP:0007010	Poor fine motor coordination
5521	PPP2R2B	HP:0002375	Hypokinesia
5521	PPP2R2B	HP:0002345	Action tremor
5521	PPP2R2B	HP:0002346	Head tremor
5521	PPP2R2B	HP:0002317	Unsteady gait
5521	PPP2R2B	HP:0007141	Sensorimotor neuropathy
5521	PPP2R2B	HP:0000739	Anxiety
5521	PPP2R2B	HP:0000746	Delusions
5521	PPP2R2B	HP:0000716	Depression
5521	PPP2R2B	HP:0000726	Dementia
5521	PPP2R2B	HP:0000708	Atypical behavior
5521	PPP2R2B	HP:0030188	Tremor by anatomical site
5521	PPP2R2B	HP:0000317	Facial myokymia
5521	PPP2R2B	HP:0000496	Abnormality of eye movement
5528	PPP2R5D	HP:0002465	Poor speech
5528	PPP2R5D	HP:0001137	Alternating esotropia
5528	PPP2R5D	HP:0025160	Abnormal temper tantrums
5528	PPP2R5D	HP:0010864	Intellectual disability, severe
5528	PPP2R5D	HP:0001290	Generalized hypotonia
5528	PPP2R5D	HP:0001273	Abnormal corpus callosum morphology
5528	PPP2R5D	HP:0001284	Areflexia
5528	PPP2R5D	HP:0001250	Seizure
5528	PPP2R5D	HP:0001252	Hypotonia
5528	PPP2R5D	HP:0001251	Ataxia
5528	PPP2R5D	HP:0001249	Intellectual disability
5528	PPP2R5D	HP:0001263	Global developmental delay
5528	PPP2R5D	HP:0002558	Supernumerary nipple
5528	PPP2R5D	HP:0002500	Abnormal cerebral white matter morphology
5528	PPP2R5D	HP:0001374	Congenital hip dislocation
5528	PPP2R5D	HP:0001357	Plagiocephaly
5528	PPP2R5D	HP:0031165	Multifocal seizures
5528	PPP2R5D	HP:0001344	Absent speech
5528	PPP2R5D	HP:0000006	Autosomal dominant inheritance
5528	PPP2R5D	HP:0002650	Scoliosis
5528	PPP2R5D	HP:0001319	Neonatal hypotonia
5528	PPP2R5D	HP:0000194	Open mouth
5528	PPP2R5D	HP:0000176	Submucous cleft hard palate
5528	PPP2R5D	HP:0002021	Pyloric stenosis
5528	PPP2R5D	HP:0002028	Chronic diarrhea
5528	PPP2R5D	HP:0005988	Congenital muscular torticollis
5528	PPP2R5D	HP:0002007	Frontal bossing
5528	PPP2R5D	HP:0011800	Midface retrusion
5528	PPP2R5D	HP:0002066	Gait ataxia
5528	PPP2R5D	HP:0002119	Ventriculomegaly
5528	PPP2R5D	HP:0011937	Hypoplastic fifth toenail
5528	PPP2R5D	HP:0100702	Arachnoid cyst
5528	PPP2R5D	HP:0002389	Cavum septum pellucidum
5528	PPP2R5D	HP:0002342	Intellectual disability, moderate
5528	PPP2R5D	HP:0002317	Unsteady gait
5528	PPP2R5D	HP:0001943	Hypoglycemia
5528	PPP2R5D	HP:0001999	Abnormal facial shape
5528	PPP2R5D	HP:0006956	Lateral ventricle dilatation
5528	PPP2R5D	HP:0031936	Delayed ability to walk
5528	PPP2R5D	HP:0000733	Abnormal repetitive mannerisms
5528	PPP2R5D	HP:0000750	Delayed speech and language development
5528	PPP2R5D	HP:0000744	Low frustration tolerance
5528	PPP2R5D	HP:0000718	Aggressive behavior
5528	PPP2R5D	HP:0000729	Autistic behavior
5528	PPP2R5D	HP:0003196	Short nose
5528	PPP2R5D	HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe
5528	PPP2R5D	HP:0000297	Facial hypotonia
5528	PPP2R5D	HP:0000260	Wide anterior fontanel
5528	PPP2R5D	HP:0000256	Macrocephaly
5528	PPP2R5D	HP:0000276	Long face
5528	PPP2R5D	HP:0000268	Dolichocephaly
5528	PPP2R5D	HP:0000238	Hydrocephalus
5528	PPP2R5D	HP:0001583	Rotary nystagmus
5528	PPP2R5D	HP:0000219	Thin upper lip vermilion
5528	PPP2R5D	HP:0000218	High palate
5528	PPP2R5D	HP:0001511	Intrauterine growth retardation
5528	PPP2R5D	HP:0012378	Fatigue
5528	PPP2R5D	HP:0005216	Impaired mastication
5528	PPP2R5D	HP:0000369	Low-set ears
5528	PPP2R5D	HP:0000341	Narrow forehead
5528	PPP2R5D	HP:0000343	Long philtrum
5528	PPP2R5D	HP:0001647	Bicuspid aortic valve
5528	PPP2R5D	HP:0000316	Hypertelorism
5528	PPP2R5D	HP:0000325	Triangular face
5528	PPP2R5D	HP:0000324	Facial asymmetry
5528	PPP2R5D	HP:0001655	Patent foramen ovale
5528	PPP2R5D	HP:0001629	Ventricular septal defect
5528	PPP2R5D	HP:0001627	Abnormal heart morphology
5528	PPP2R5D	HP:0001631	Atrial septal defect
5528	PPP2R5D	HP:0000483	Astigmatism
5528	PPP2R5D	HP:0000486	Strabismus
5528	PPP2R5D	HP:0000478	Abnormality of the eye
5528	PPP2R5D	HP:0000494	Downslanted palpebral fissures
5528	PPP2R5D	HP:0000490	Deeply set eye
5528	PPP2R5D	HP:0000508	Ptosis
5528	PPP2R5D	HP:0011220	Prominent forehead
5528	PPP2R5D	HP:0000545	Myopia
5530	PPP3CA	HP:0001156	Brachydactyly
5530	PPP3CA	HP:0007270	Atypical absence seizure
5530	PPP3CA	HP:0002421	Poor head control
5530	PPP3CA	HP:0001298	Encephalopathy
5530	PPP3CA	HP:0001290	Generalized hypotonia
5530	PPP3CA	HP:0001273	Abnormal corpus callosum morphology
5530	PPP3CA	HP:0001268	Mental deterioration
5530	PPP3CA	HP:0001250	Seizure
5530	PPP3CA	HP:0001252	Hypotonia
5530	PPP3CA	HP:0001251	Ataxia
5530	PPP3CA	HP:0001249	Intellectual disability
5530	PPP3CA	HP:0001265	Hyporeflexia
5530	PPP3CA	HP:0001263	Global developmental delay
5530	PPP3CA	HP:0001257	Spasticity
5530	PPP3CA	HP:0002521	Hypsarrhythmia
5530	PPP3CA	HP:0002509	Limb hypertonia
5530	PPP3CA	HP:0000076	Vesicoureteral reflux
5530	PPP3CA	HP:0001363	Craniosynostosis
5530	PPP3CA	HP:0001357	Plagiocephaly
5530	PPP3CA	HP:0001344	Absent speech
5530	PPP3CA	HP:0001337	Tremor
5530	PPP3CA	HP:0000006	Autosomal dominant inheritance
5530	PPP3CA	HP:0001336	Myoclonus
5530	PPP3CA	HP:0001315	Reduced tendon reflexes
5530	PPP3CA	HP:0000175	Cleft palate
5530	PPP3CA	HP:0000126	Hydronephrosis
5530	PPP3CA	HP:0002020	Gastroesophageal reflux
5530	PPP3CA	HP:0002069	Bilateral tonic-clonic seizure
5530	PPP3CA	HP:0002063	Rigidity
5530	PPP3CA	HP:0002059	Cerebral atrophy
5530	PPP3CA	HP:0002133	Status epilepticus
5530	PPP3CA	HP:0002188	Delayed CNS myelination
5530	PPP3CA	HP:0002197	Generalized-onset seizure
5530	PPP3CA	HP:0003593	Infantile onset
5530	PPP3CA	HP:0003577	Congenital onset
5530	PPP3CA	HP:0100704	Cerebral visual impairment
5530	PPP3CA	HP:0100710	Impulsivity
5530	PPP3CA	HP:0200134	Epileptic encephalopathy
5530	PPP3CA	HP:0007018	Attention deficit hyperactivity disorder
5530	PPP3CA	HP:0011968	Feeding difficulties
5530	PPP3CA	HP:0002376	Developmental regression
5530	PPP3CA	HP:0002355	Difficulty walking
5530	PPP3CA	HP:0002317	Unsteady gait
5530	PPP3CA	HP:0010841	Multifocal epileptiform discharges
5530	PPP3CA	HP:0010844	EEG with multifocal slow activity
5530	PPP3CA	HP:0100660	Dyskinesia
5530	PPP3CA	HP:0000639	Nystagmus
5530	PPP3CA	HP:0000648	Optic atrophy
5530	PPP3CA	HP:0000668	Hypodontia
5530	PPP3CA	HP:0004325	Decreased body weight
5530	PPP3CA	HP:0004322	Short stature
5530	PPP3CA	HP:0004305	Involuntary movements
5530	PPP3CA	HP:0034197	Third trimester onset
5530	PPP3CA	HP:0000750	Delayed speech and language development
5530	PPP3CA	HP:0000717	Autism
5530	PPP3CA	HP:0000708	Atypical behavior
5530	PPP3CA	HP:0011463	Childhood onset
5530	PPP3CA	HP:0011443	Abnormality of coordination
5530	PPP3CA	HP:0003100	Slender long bone
5530	PPP3CA	HP:0034295	Reduced cerebral white matter volume
5530	PPP3CA	HP:0000883	Thin ribs
5530	PPP3CA	HP:0000954	Single transverse palmar crease
5530	PPP3CA	HP:0000280	Coarse facial features
5530	PPP3CA	HP:0000278	Retrognathia
5530	PPP3CA	HP:0002804	Arthrogryposis multiplex congenita
5530	PPP3CA	HP:0000243	Trigonocephaly
5530	PPP3CA	HP:0000252	Microcephaly
5530	PPP3CA	HP:0001558	Decreased fetal movement
5530	PPP3CA	HP:0001508	Failure to thrive
5530	PPP3CA	HP:0011097	Epileptic spasm
5530	PPP3CA	HP:0001609	Hoarse voice
5530	PPP3CA	HP:0032792	Tonic seizure
5530	PPP3CA	HP:0000348	High forehead
5530	PPP3CA	HP:0000347	Micrognathia
5530	PPP3CA	HP:0032794	Myoclonic seizure
5530	PPP3CA	HP:0000316	Hypertelorism
5530	PPP3CA	HP:0000322	Short philtrum
5530	PPP3CA	HP:0011153	Focal motor seizure
5530	PPP3CA	HP:0005274	Prominent nasal tip
5530	PPP3CA	HP:0012471	Thick vermilion border
5530	PPP3CA	HP:0000494	Downslanted palpebral fissures
5530	PPP3CA	HP:0001790	Nonimmune hydrops fetalis
5530	PPP3CA	HP:0012444	Brain atrophy
5530	PPP3CA	HP:0012447	Abnormal myelination
5530	PPP3CA	HP:0001762	Talipes equinovarus
5530	PPP3CA	HP:0005474	Decreased calvarial ossification
5530	PPP3CA	HP:0000508	Ptosis
5530	PPP3CA	HP:0000504	Abnormality of vision
5530	PPP3CA	HP:0012547	Abnormal involuntary eye movements
5530	PPP3CA	HP:0000546	Retinal degeneration
5538	PPT1	HP:0001290	Generalized hypotonia
5538	PPT1	HP:0001250	Seizure
5538	PPT1	HP:0001252	Hypotonia
5538	PPT1	HP:0001251	Ataxia
5538	PPT1	HP:0001249	Intellectual disability
5538	PPT1	HP:0001263	Global developmental delay
5538	PPT1	HP:0001257	Spasticity
5538	PPT1	HP:0001371	Flexion contracture
5538	PPT1	HP:0000007	Autosomal recessive inheritance
5538	PPT1	HP:0001336	Myoclonus
5538	PPT1	HP:0002074	Increased neuronal autofluorescent lipopigment
5538	PPT1	HP:0002059	Cerebral atrophy
5538	PPT1	HP:0002360	Sleep disturbance
5538	PPT1	HP:0002361	Psychomotor deterioration
5538	PPT1	HP:0002371	Loss of speech
5538	PPT1	HP:0002353	EEG abnormality
5538	PPT1	HP:0003657	Granular osmiophilic deposits (GROD) in cells
5538	PPT1	HP:0003621	Juvenile onset
5538	PPT1	HP:0000648	Optic atrophy
5538	PPT1	HP:0000618	Blindness
5538	PPT1	HP:0001922	Vacuolated lymphocytes
5538	PPT1	HP:0000608	Macular degeneration
5538	PPT1	HP:0001939	Abnormality of metabolism/homeostasis
5538	PPT1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
5538	PPT1	HP:0000738	Hallucinations
5538	PPT1	HP:0000737	Irritability
5538	PPT1	HP:0000716	Depression
5538	PPT1	HP:0000253	Progressive microcephaly
5538	PPT1	HP:0005484	Secondary microcephaly
5538	PPT1	HP:0000529	Progressive visual loss
5538	PPT1	HP:0000550	Undetectable electroretinogram
5538	PPT1	HP:0000546	Retinal degeneration
5546	PRCC	HP:0003829	Typified by incomplete penetrance
5546	PRCC	HP:0000006	Autosomal dominant inheritance
5546	PRCC	HP:0001428	Somatic mutation
5546	PRCC	HP:0006766	Papillary renal cell carcinoma
5551	PRF1	HP:0002445	Tetraplegia
5551	PRF1	HP:0007305	CNS demyelination
5551	PRF1	HP:0001290	Generalized hypotonia
5551	PRF1	HP:0001276	Hypertonia
5551	PRF1	HP:0001287	Meningitis
5551	PRF1	HP:0001250	Seizure
5551	PRF1	HP:0002583	Colitis
5551	PRF1	HP:0001252	Hypotonia
5551	PRF1	HP:0001251	Ataxia
5551	PRF1	HP:0001263	Global developmental delay
5551	PRF1	HP:0001259	Coma
5551	PRF1	HP:0007430	Generalized edema
5551	PRF1	HP:0002516	Increased intracranial pressure
5551	PRF1	HP:0002500	Abnormal cerebral white matter morphology
5551	PRF1	HP:0000007	Autosomal recessive inheritance
5551	PRF1	HP:0002665	Lymphoma
5551	PRF1	HP:0002611	Cholestatic liver disease
5551	PRF1	HP:0012178	Reduced natural killer cell activity
5551	PRF1	HP:0012156	Hemophagocytosis
5551	PRF1	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
5551	PRF1	HP:0001433	Hepatosplenomegaly
5551	PRF1	HP:0001410	Decreased liver function
5551	PRF1	HP:0002719	Recurrent infections
5551	PRF1	HP:0002716	Lymphadenopathy
5551	PRF1	HP:0002086	Abnormality of the respiratory system
5551	PRF1	HP:0008151	Prolonged prothrombin time
5551	PRF1	HP:0002155	Hypertriglyceridemia
5551	PRF1	HP:0011900	Hypofibrinogenemia
5551	PRF1	HP:0003593	Infantile onset
5551	PRF1	HP:0003573	Increased total bilirubin
5551	PRF1	HP:0002240	Hepatomegaly
5551	PRF1	HP:0002383	Infectious encephalitis
5551	PRF1	HP:0001019	Erythroderma
5551	PRF1	HP:0009830	Peripheral neuropathy
5551	PRF1	HP:0002301	Hemiplegia
5551	PRF1	HP:0005528	Bone marrow hypocellularity
5551	PRF1	HP:0001945	Fever
5551	PRF1	HP:0001954	Recurrent fever
5551	PRF1	HP:0001903	Anemia
5551	PRF1	HP:0001915	Aplastic anemia
5551	PRF1	HP:0004302	Functional motor deficit
5551	PRF1	HP:0004313	Decreased circulating antibody level
5551	PRF1	HP:0003075	Hypoproteinemia
5551	PRF1	HP:0003073	Hypoalbuminemia
5551	PRF1	HP:0000737	Irritability
5551	PRF1	HP:0000707	Abnormality of the nervous system
5551	PRF1	HP:0030783	Increased circulating interleukin 6 concentration
5551	PRF1	HP:0003281	Increased circulating ferritin concentration
5551	PRF1	HP:0003256	Abnormality of the coagulation cascade
5551	PRF1	HP:0000979	Purpura
5551	PRF1	HP:0000978	Bruising susceptibility
5551	PRF1	HP:0000988	Skin rash
5551	PRF1	HP:0000952	Jaundice
5551	PRF1	HP:0000969	Edema
5551	PRF1	HP:0000967	Petechiae
5551	PRF1	HP:0040186	Maculopapular exanthema
5551	PRF1	HP:0030057	Autoimmune antibody positivity
5551	PRF1	HP:0012229	CSF pleocytosis
5551	PRF1	HP:0012211	Abnormal renal physiology
5551	PRF1	HP:0000225	Gingival bleeding
5551	PRF1	HP:0031364	Ecchymosis
5551	PRF1	HP:0001508	Failure to thrive
5551	PRF1	HP:0002910	Elevated hepatic transaminase
5551	PRF1	HP:0002922	Increased CSF protein concentration
5551	PRF1	HP:0002902	Hyponatremia
5551	PRF1	HP:0002958	Immune dysregulation
5551	PRF1	HP:0000407	Sensorineural hearing impairment
5551	PRF1	HP:0011118	Abnormality of tumor necrosis factor secretion
5551	PRF1	HP:0011121	Abnormality of skin morphology
5551	PRF1	HP:0011112	Abnormality of serum cytokine level
5551	PRF1	HP:0001744	Splenomegaly
5551	PRF1	HP:0000421	Epistaxis
5551	PRF1	HP:0030356	Increased circulating interferon-gamma concentration
5551	PRF1	HP:0000573	Retinal hemorrhage
5551	PRF1	HP:0001896	Reticulocytopenia
5551	PRF1	HP:0001882	Leukopenia
5551	PRF1	HP:0001873	Thrombocytopenia
5551	PRF1	HP:0001876	Pancytopenia
5551	PRF1	HP:0001875	Neutropenia
5557	PRIM1	HP:0001182	Tapered finger
5557	PRIM1	HP:0008551	Microtia
5557	PRIM1	HP:0033677	Acute respiratory distress syndrome
5557	PRIM1	HP:0000089	Renal hypoplasia
5557	PRIM1	HP:0001395	Hepatic fibrosis
5557	PRIM1	HP:0001385	Hip dysplasia
5557	PRIM1	HP:0001363	Craniosynostosis
5557	PRIM1	HP:0000028	Cryptorchidism
5557	PRIM1	HP:0008850	Severe postnatal growth retardation
5557	PRIM1	HP:0007485	Absence of subcutaneous fat
5557	PRIM1	HP:0000007	Autosomal recessive inheritance
5557	PRIM1	HP:0001409	Portal hypertension
5557	PRIM1	HP:0002719	Recurrent infections
5557	PRIM1	HP:0002720	Decreased circulating IgA level
5557	PRIM1	HP:0002007	Frontal bossing
5557	PRIM1	HP:0002092	Pulmonary arterial hypertension
5557	PRIM1	HP:0002093	Respiratory insufficiency
5557	PRIM1	HP:0002113	Pulmonary infiltrates
5557	PRIM1	HP:0002194	Delayed gross motor development
5557	PRIM1	HP:0011968	Feeding difficulties
5557	PRIM1	HP:0200055	Small hand
5557	PRIM1	HP:0001903	Anemia
5557	PRIM1	HP:0011344	Severe global developmental delay
5557	PRIM1	HP:0000691	Microdontia
5557	PRIM1	HP:0004315	Decreased circulating IgG level
5557	PRIM1	HP:0012735	Cough
5557	PRIM1	HP:0011461	Fetal onset
5557	PRIM1	HP:0030799	Scaphocephaly
5557	PRIM1	HP:0003155	Elevated circulating alkaline phosphatase concentration
5557	PRIM1	HP:0000878	11 pairs of ribs
5557	PRIM1	HP:0000821	Hypothyroidism
5557	PRIM1	HP:0030828	Wheezing
5557	PRIM1	HP:0008070	Sparse hair
5557	PRIM1	HP:0000270	Delayed cranial suture closure
5557	PRIM1	HP:0000252	Microcephaly
5557	PRIM1	HP:0002850	Decreased circulating total IgM
5557	PRIM1	HP:0001511	Intrauterine growth retardation
5557	PRIM1	HP:0006577	Macronodular cirrhosis
5557	PRIM1	HP:0006528	Chronic lung disease
5557	PRIM1	HP:0002910	Elevated hepatic transaminase
5557	PRIM1	HP:0000369	Low-set ears
5557	PRIM1	HP:0000337	Broad forehead
5557	PRIM1	HP:0000347	Micrognathia
5557	PRIM1	HP:0000319	Smooth philtrum
5557	PRIM1	HP:0001643	Patent ductus arteriosus
5557	PRIM1	HP:0001655	Patent foramen ovale
5557	PRIM1	HP:0001631	Atrial septal defect
5557	PRIM1	HP:0005365	Severe B lymphocytopenia
5557	PRIM1	HP:0001738	Exocrine pancreatic insufficiency
5557	PRIM1	HP:0005280	Depressed nasal bridge
5557	PRIM1	HP:0012471	Thick vermilion border
5557	PRIM1	HP:0000437	Depressed nasal tip
5557	PRIM1	HP:0001747	Accessory spleen
5557	PRIM1	HP:0000518	Cataract
5557	PRIM1	HP:0000581	Blepharophimosis
5557	PRIM1	HP:0001888	Lymphopenia
5557	PRIM1	HP:0000568	Microphthalmia
5557	PRIM1	HP:0001873	Thrombocytopenia
5566	PRKACA	HP:0002488	Acute leukemia
5566	PRKACA	HP:0001161	Hand polydactyly
5566	PRKACA	HP:0009882	Short distal phalanx of finger
5566	PRKACA	HP:0003701	Proximal muscle weakness
5566	PRKACA	HP:0100818	Long thorax
5566	PRKACA	HP:0001249	Intellectual disability
5566	PRKACA	HP:0001231	Abnormal fingernail morphology
5566	PRKACA	HP:0001241	Capitate-hamate fusion
5566	PRKACA	HP:0008678	Renal hypoplasia/aplasia
5566	PRKACA	HP:0025383	Dorsocervical fat pad
5566	PRKACA	HP:0001397	Hepatic steatosis
5566	PRKACA	HP:0000077	Abnormality of the kidney
5566	PRKACA	HP:0000072	Hydroureter
5566	PRKACA	HP:0000069	Abnormality of the ureter
5566	PRKACA	HP:0012030	Increased urinary cortisol level
5566	PRKACA	HP:0000039	Epispadias
5566	PRKACA	HP:0000047	Hypospadias
5566	PRKACA	HP:0000028	Cryptorchidism
5566	PRKACA	HP:0007552	Abnormal subcutaneous fat tissue distribution
5566	PRKACA	HP:0002659	Increased susceptibility to fractures
5566	PRKACA	HP:0000008	Abnormal morphology of female internal genitalia
5566	PRKACA	HP:0000006	Autosomal dominant inheritance
5566	PRKACA	HP:0002644	Abnormal pelvic girdle bone morphology
5566	PRKACA	HP:0008921	Neonatal short-limb short stature
5566	PRKACA	HP:0000190	Abnormal oral frenulum morphology
5566	PRKACA	HP:0000191	Accessory oral frenulum
5566	PRKACA	HP:0000164	Abnormality of the dentition
5566	PRKACA	HP:0500011	Moon facies
5566	PRKACA	HP:0002750	Delayed skeletal maturation
5566	PRKACA	HP:0005978	Type II diabetes mellitus
5566	PRKACA	HP:0011800	Midface retrusion
5566	PRKACA	HP:0100543	Cognitive impairment
5566	PRKACA	HP:0002097	Emphysema
5566	PRKACA	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
5566	PRKACA	HP:0002164	Nail dysplasia
5566	PRKACA	HP:0008221	Adrenal hyperplasia
5566	PRKACA	HP:0011833	Overhanging nasal tip
5566	PRKACA	HP:0011830	Abnormal oral mucosa morphology
5566	PRKACA	HP:0003577	Congenital onset
5566	PRKACA	HP:0100754	Mania
5566	PRKACA	HP:0010619	Fibroadenoma of the breast
5566	PRKACA	HP:0001050	Plethora
5566	PRKACA	HP:0001065	Striae distensae
5566	PRKACA	HP:0001061	Acne
5566	PRKACA	HP:0001030	Fragile skin
5566	PRKACA	HP:0001007	Hirsutism
5566	PRKACA	HP:0002354	Memory impairment
5566	PRKACA	HP:0009826	Limb undergrowth
5566	PRKACA	HP:0010788	Testicular neoplasm
5566	PRKACA	HP:0007126	Proximal amyotrophy
5566	PRKACA	HP:0031845	Abnormal libido
5566	PRKACA	HP:0005585	Spotty hyperpigmentation
5566	PRKACA	HP:0005561	Abnormality of bone marrow cell morphology
5566	PRKACA	HP:0001952	Glucose intolerance
5566	PRKACA	HP:0011362	Abnormal hair quantity
5566	PRKACA	HP:0000699	Diastema
5566	PRKACA	HP:0000698	Conical tooth
5566	PRKACA	HP:0000684	Delayed eruption of teeth
5566	PRKACA	HP:0000691	Microdontia
5566	PRKACA	HP:0000668	Hypodontia
5566	PRKACA	HP:0004324	Increased body weight
5566	PRKACA	HP:0030680	Abnormality of cardiovascular system morphology
5566	PRKACA	HP:0003077	Hyperlipidemia
5566	PRKACA	HP:0012743	Abdominal obesity
5566	PRKACA	HP:0000716	Depression
5566	PRKACA	HP:0000712	Emotional lability
5566	PRKACA	HP:0000725	Psychotic episodes
5566	PRKACA	HP:0000708	Atypical behavior
5566	PRKACA	HP:0000774	Narrow chest
5566	PRKACA	HP:0000787	Nephrolithiasis
5566	PRKACA	HP:0003118	Increased circulating cortisol level
5566	PRKACA	HP:0000924	Abnormality of the skeletal system
5566	PRKACA	HP:0000858	Irregular menstruation
5566	PRKACA	HP:0000819	Diabetes mellitus
5566	PRKACA	HP:0000822	Hypertension
5566	PRKACA	HP:0100259	Postaxial polydactyly
5566	PRKACA	HP:0010306	Short thorax
5566	PRKACA	HP:0000978	Bruising susceptibility
5566	PRKACA	HP:0000963	Thin skin
5566	PRKACA	HP:0000939	Osteoporosis
5566	PRKACA	HP:0000938	Osteopenia
5566	PRKACA	HP:0011672	Cardiac myxoma
5566	PRKACA	HP:0001595	Abnormal hair morphology
5566	PRKACA	HP:0001597	Abnormality of the nail
5566	PRKACA	HP:0001596	Alopecia
5566	PRKACA	HP:0000276	Long face
5566	PRKACA	HP:0005048	Synostosis of carpal bones
5566	PRKACA	HP:0001580	Pigmented micronodular adrenocortical disease
5566	PRKACA	HP:0001579	Primary hypercortisolism
5566	PRKACA	HP:0000233	Thin vermilion border
5566	PRKACA	HP:0002893	Pituitary adenoma
5566	PRKACA	HP:0002857	Genu valgum
5566	PRKACA	HP:0001508	Failure to thrive
5566	PRKACA	HP:0001511	Intrauterine growth retardation
5566	PRKACA	HP:0001510	Growth delay
5566	PRKACA	HP:0011065	Conical incisor
5566	PRKACA	HP:0002910	Elevated hepatic transaminase
5566	PRKACA	HP:0002920	Decreased circulating ACTH level
5566	PRKACA	HP:0001696	Situs inversus totalis
5566	PRKACA	HP:0001674	Complete atrioventricular canal defect
5566	PRKACA	HP:0002983	Micromelia
5566	PRKACA	HP:0001651	Dextrocardia
5566	PRKACA	HP:0000327	Hypoplasia of the maxilla
5566	PRKACA	HP:0001654	Abnormal heart valve morphology
5566	PRKACA	HP:0000322	Short philtrum
5566	PRKACA	HP:0001629	Ventricular septal defect
5566	PRKACA	HP:0002967	Cubitus valgus
5566	PRKACA	HP:0001631	Atrial septal defect
5566	PRKACA	HP:0006695	Atrioventricular canal defect
5566	PRKACA	HP:0000486	Strabismus
5566	PRKACA	HP:0006703	Aplasia/Hypoplasia of the lungs
5566	PRKACA	HP:0030428	Cutaneous myxoma
5566	PRKACA	HP:0001829	Foot polydactyly
5566	PRKACA	HP:0001800	Hypoplastic toenails
5567	PRKACB	HP:0002488	Acute leukemia
5567	PRKACB	HP:0001156	Brachydactyly
5567	PRKACB	HP:0001162	Postaxial hand polydactyly
5567	PRKACB	HP:0001161	Hand polydactyly
5567	PRKACB	HP:0009882	Short distal phalanx of finger
5567	PRKACB	HP:0100818	Long thorax
5567	PRKACB	HP:0001249	Intellectual disability
5567	PRKACB	HP:0001231	Abnormal fingernail morphology
5567	PRKACB	HP:0001241	Capitate-hamate fusion
5567	PRKACB	HP:0008678	Renal hypoplasia/aplasia
5567	PRKACB	HP:0001217	Clubbing
5567	PRKACB	HP:0000077	Abnormality of the kidney
5567	PRKACB	HP:0000072	Hydroureter
5567	PRKACB	HP:0000069	Abnormality of the ureter
5567	PRKACB	HP:0000039	Epispadias
5567	PRKACB	HP:0000047	Hypospadias
5567	PRKACB	HP:0000028	Cryptorchidism
5567	PRKACB	HP:0000008	Abnormal morphology of female internal genitalia
5567	PRKACB	HP:0000006	Autosomal dominant inheritance
5567	PRKACB	HP:0002644	Abnormal pelvic girdle bone morphology
5567	PRKACB	HP:0008921	Neonatal short-limb short stature
5567	PRKACB	HP:0000190	Abnormal oral frenulum morphology
5567	PRKACB	HP:0000191	Accessory oral frenulum
5567	PRKACB	HP:0000164	Abnormality of the dentition
5567	PRKACB	HP:0005001	Recurrent patellar dislocation
5567	PRKACB	HP:0002750	Delayed skeletal maturation
5567	PRKACB	HP:0002002	Deep philtrum
5567	PRKACB	HP:0002097	Emphysema
5567	PRKACB	HP:0002164	Nail dysplasia
5567	PRKACB	HP:0011830	Abnormal oral mucosa morphology
5567	PRKACB	HP:0003577	Congenital onset
5567	PRKACB	HP:0009826	Limb undergrowth
5567	PRKACB	HP:0010804	Tented upper lip vermilion
5567	PRKACB	HP:0004209	Clinodactyly of the 5th finger
5567	PRKACB	HP:0005561	Abnormality of bone marrow cell morphology
5567	PRKACB	HP:0011362	Abnormal hair quantity
5567	PRKACB	HP:0000698	Conical tooth
5567	PRKACB	HP:0000684	Delayed eruption of teeth
5567	PRKACB	HP:0000691	Microdontia
5567	PRKACB	HP:0000668	Hypodontia
5567	PRKACB	HP:0030680	Abnormality of cardiovascular system morphology
5567	PRKACB	HP:0000774	Narrow chest
5567	PRKACB	HP:0000924	Abnormality of the skeletal system
5567	PRKACB	HP:0011565	Common atrium
5567	PRKACB	HP:0010306	Short thorax
5567	PRKACB	HP:0011670	Left superior vena cava draining to coronary sinus
5567	PRKACB	HP:0001595	Abnormal hair morphology
5567	PRKACB	HP:0001597	Abnormality of the nail
5567	PRKACB	HP:0000276	Long face
5567	PRKACB	HP:0005048	Synostosis of carpal bones
5567	PRKACB	HP:0000233	Thin vermilion border
5567	PRKACB	HP:0002857	Genu valgum
5567	PRKACB	HP:0001508	Failure to thrive
5567	PRKACB	HP:0001511	Intrauterine growth retardation
5567	PRKACB	HP:0011065	Conical incisor
5567	PRKACB	HP:0001696	Situs inversus totalis
5567	PRKACB	HP:0000337	Broad forehead
5567	PRKACB	HP:0002983	Micromelia
5567	PRKACB	HP:0001651	Dextrocardia
5567	PRKACB	HP:0000316	Hypertelorism
5567	PRKACB	HP:0001654	Abnormal heart valve morphology
5567	PRKACB	HP:0000322	Short philtrum
5567	PRKACB	HP:0001629	Ventricular septal defect
5567	PRKACB	HP:0002967	Cubitus valgus
5567	PRKACB	HP:0001631	Atrial septal defect
5567	PRKACB	HP:0000303	Mandibular prognathia
5567	PRKACB	HP:0006695	Atrioventricular canal defect
5567	PRKACB	HP:0005274	Prominent nasal tip
5567	PRKACB	HP:0000486	Strabismus
5567	PRKACB	HP:0006703	Aplasia/Hypoplasia of the lungs
5567	PRKACB	HP:0001829	Foot polydactyly
5567	PRKACB	HP:0001830	Postaxial foot polydactyly
5567	PRKACB	HP:0001800	Hypoplastic toenails
5568	PRKACG	HP:0007420	Spontaneous hematomas
5568	PRKACG	HP:0000007	Autosomal recessive inheritance
5568	PRKACG	HP:0000132	Menorrhagia
5568	PRKACG	HP:0003593	Infantile onset
5568	PRKACG	HP:0001903	Anemia
5568	PRKACG	HP:0040185	Macrothrombocytopenia
5568	PRKACG	HP:0000421	Epistaxis
5568	PRKACG	HP:0001892	Abnormal bleeding
5568	PRKACG	HP:0001873	Thrombocytopenia
5573	PRKAR1A	HP:0001169	Broad palm
5573	PRKAR1A	HP:0025134	Increased serum estradiol
5573	PRKAR1A	HP:0001156	Brachydactyly
5573	PRKAR1A	HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge
5573	PRKAR1A	HP:0003764	Nevus
5573	PRKAR1A	HP:0003701	Proximal muscle weakness
5573	PRKAR1A	HP:0001297	Stroke
5573	PRKAR1A	HP:0025269	Panic attack
5573	PRKAR1A	HP:0100814	Blue nevus
5573	PRKAR1A	HP:0001268	Mental deterioration
5573	PRKAR1A	HP:0001249	Intellectual disability
5573	PRKAR1A	HP:0001263	Global developmental delay
5573	PRKAR1A	HP:0025274	Ovarian dermoid cyst
5573	PRKAR1A	HP:0031035	Chronic infection
5573	PRKAR1A	HP:0010978	Abnormality of immune system physiology
5573	PRKAR1A	HP:0002516	Increased intracranial pressure
5573	PRKAR1A	HP:0031020	Bone marrow hypercellularity
5573	PRKAR1A	HP:0025383	Dorsocervical fat pad
5573	PRKAR1A	HP:0000080	Abnormality of reproductive system physiology
5573	PRKAR1A	HP:0025380	Increased circulating androstenedione concentration
5573	PRKAR1A	HP:0000098	Tall stature
5573	PRKAR1A	HP:0001397	Hepatic steatosis
5573	PRKAR1A	HP:0001396	Cholestasis
5573	PRKAR1A	HP:0012041	Decreased fertility in males
5573	PRKAR1A	HP:0012030	Increased urinary cortisol level
5573	PRKAR1A	HP:0000055	Abnormality of female external genitalia
5573	PRKAR1A	HP:0000053	Macroorchidism
5573	PRKAR1A	HP:0000047	Hypospadias
5573	PRKAR1A	HP:0025318	Ovarian carcinoma
5573	PRKAR1A	HP:0000028	Cryptorchidism
5573	PRKAR1A	HP:0007565	Multiple cafe-au-lait spots
5573	PRKAR1A	HP:0007552	Abnormal subcutaneous fat tissue distribution
5573	PRKAR1A	HP:0008873	Disproportionate short-limb short stature
5573	PRKAR1A	HP:0001328	Specific learning disability
5573	PRKAR1A	HP:0002659	Increased susceptibility to fractures
5573	PRKAR1A	HP:0001324	Muscle weakness
5573	PRKAR1A	HP:0000008	Abnormal morphology of female internal genitalia
5573	PRKAR1A	HP:0000006	Autosomal dominant inheritance
5573	PRKAR1A	HP:0002666	Pheochromocytoma
5573	PRKAR1A	HP:0002653	Bone pain
5573	PRKAR1A	HP:0002650	Scoliosis
5573	PRKAR1A	HP:0002617	Vascular dilatation
5573	PRKAR1A	HP:0033794	Acral overgrowth
5573	PRKAR1A	HP:0000199	Tongue nodules
5573	PRKAR1A	HP:0000194	Open mouth
5573	PRKAR1A	HP:0025451	Testicular adrenal rest tumor
5573	PRKAR1A	HP:0025436	Elevated serum 11-deoxycortisol
5573	PRKAR1A	HP:0000135	Hypogonadism
5573	PRKAR1A	HP:0000138	Ovarian cyst
5573	PRKAR1A	HP:0001480	Freckling
5573	PRKAR1A	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
5573	PRKAR1A	HP:0500011	Moon facies
5573	PRKAR1A	HP:0000122	Unilateral renal agenesis
5573	PRKAR1A	HP:0025420	Diffuse alveolar hemorrhage
5573	PRKAR1A	HP:0031214	Decreased circulating dehydroepiandrosterone concentration
5573	PRKAR1A	HP:0001402	Hepatocellular carcinoma
5573	PRKAR1A	HP:0031245	Productive cough
5573	PRKAR1A	HP:0002716	Lymphadenopathy
5573	PRKAR1A	HP:0002027	Abdominal pain
5573	PRKAR1A	HP:0003312	Abnormal form of the vertebral bodies
5573	PRKAR1A	HP:0005978	Type II diabetes mellitus
5573	PRKAR1A	HP:0004646	Hypoplasia of the nasal bone
5573	PRKAR1A	HP:0011800	Midface retrusion
5573	PRKAR1A	HP:0100543	Cognitive impairment
5573	PRKAR1A	HP:0030955	Alcoholism
5573	PRKAR1A	HP:0002039	Anorexia
5573	PRKAR1A	HP:0003388	Easy fatigability
5573	PRKAR1A	HP:0011760	Pituitary growth hormone cell adenoma
5573	PRKAR1A	HP:0011748	Adrenocorticotropic hormone deficiency
5573	PRKAR1A	HP:0005916	Abnormal metacarpal morphology
5573	PRKAR1A	HP:0003456	Low urinary cyclic AMP response to PTH administration
5573	PRKAR1A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
5573	PRKAR1A	HP:0003416	Spinal canal stenosis
5573	PRKAR1A	HP:0011900	Hypofibrinogenemia
5573	PRKAR1A	HP:0008221	Adrenal hyperplasia
5573	PRKAR1A	HP:0008225	Thyroid follicular hyperplasia
5573	PRKAR1A	HP:0010579	Cone-shaped epiphysis
5573	PRKAR1A	HP:0003528	Elevated calcitonin
5573	PRKAR1A	HP:0100737	Abnormal hard palate morphology
5573	PRKAR1A	HP:0002286	Fair hair
5573	PRKAR1A	HP:0100751	Esophageal neoplasm
5573	PRKAR1A	HP:0100743	Neoplasm of the rectum
5573	PRKAR1A	HP:0100749	Chest pain
5573	PRKAR1A	HP:0002297	Red hair
5573	PRKAR1A	HP:0100754	Mania
5573	PRKAR1A	HP:0100758	Gangrene
5573	PRKAR1A	HP:0010655	Epiphyseal stippling
5573	PRKAR1A	HP:0010619	Fibroadenoma of the breast
5573	PRKAR1A	HP:0003502	Mild short stature
5573	PRKAR1A	HP:0001050	Plethora
5573	PRKAR1A	HP:0001065	Striae distensae
5573	PRKAR1A	HP:0001061	Acne
5573	PRKAR1A	HP:0001007	Hirsutism
5573	PRKAR1A	HP:0002354	Memory impairment
5573	PRKAR1A	HP:0002321	Vertigo
5573	PRKAR1A	HP:0001003	Multiple lentigines
5573	PRKAR1A	HP:0009830	Peripheral neuropathy
5573	PRKAR1A	HP:0010807	Open bite
5573	PRKAR1A	HP:0100608	Metrorrhagia
5573	PRKAR1A	HP:0100619	Sertoli cell neoplasm
5573	PRKAR1A	HP:0100618	Leydig cell neoplasia
5573	PRKAR1A	HP:0001074	Atypical nevi in non-sun exposed areas
5573	PRKAR1A	HP:0009803	Short phalanx of finger
5573	PRKAR1A	HP:0100638	Neoplasm of the pharynx
5573	PRKAR1A	HP:0008497	Congenital craniofacial dysostosis
5573	PRKAR1A	HP:0010785	Gonadal neoplasm
5573	PRKAR1A	HP:0010788	Testicular neoplasm
5573	PRKAR1A	HP:0008479	Hypoplastic vertebral bodies
5573	PRKAR1A	HP:0008450	Narrow vertebral interpedicular distance
5573	PRKAR1A	HP:0007126	Proximal amyotrophy
5573	PRKAR1A	HP:0010741	Pedal edema
5573	PRKAR1A	HP:0010743	Short metatarsal
5573	PRKAR1A	HP:0010732	Nodular changes affecting the eyelids
5573	PRKAR1A	HP:0003621	Juvenile onset
5573	PRKAR1A	HP:0004944	Dilatation of the cerebral artery
5573	PRKAR1A	HP:0031845	Abnormal libido
5573	PRKAR1A	HP:0005521	Disseminated intravascular coagulation
5573	PRKAR1A	HP:0004279	Short palm
5573	PRKAR1A	HP:0005587	Profuse pigmented skin lesions
5573	PRKAR1A	HP:0005585	Spotty hyperpigmentation
5573	PRKAR1A	HP:0000635	Blue irides
5573	PRKAR1A	HP:0001962	Palpitations
5573	PRKAR1A	HP:0000648	Optic atrophy
5573	PRKAR1A	HP:0001974	Leukocytosis
5573	PRKAR1A	HP:0001945	Fever
5573	PRKAR1A	HP:0001956	Truncal obesity
5573	PRKAR1A	HP:0001952	Glucose intolerance
5573	PRKAR1A	HP:0001939	Abnormality of metabolism/homeostasis
5573	PRKAR1A	HP:0001907	Thromboembolism
5573	PRKAR1A	HP:0001903	Anemia
5573	PRKAR1A	HP:0010049	Short metacarpal
5573	PRKAR1A	HP:0000684	Delayed eruption of teeth
5573	PRKAR1A	HP:0011342	Mild global developmental delay
5573	PRKAR1A	HP:0000689	Dental malocclusion
5573	PRKAR1A	HP:0000668	Hypodontia
5573	PRKAR1A	HP:0004324	Increased body weight
5573	PRKAR1A	HP:0004322	Short stature
5573	PRKAR1A	HP:0005616	Accelerated skeletal maturation
5573	PRKAR1A	HP:0003077	Hyperlipidemia
5573	PRKAR1A	HP:0003083	Dislocated radial head
5573	PRKAR1A	HP:0003022	Hypoplasia of the ulna
5573	PRKAR1A	HP:0100013	Neoplasm of the breast
5573	PRKAR1A	HP:0012743	Abdominal obesity
5573	PRKAR1A	HP:0100008	Schwannoma
5573	PRKAR1A	HP:0000752	Hyperactivity
5573	PRKAR1A	HP:0000771	Gynecomastia
5573	PRKAR1A	HP:0000737	Irritability
5573	PRKAR1A	HP:0000739	Anxiety
5573	PRKAR1A	HP:0000750	Delayed speech and language development
5573	PRKAR1A	HP:0000716	Depression
5573	PRKAR1A	HP:0000717	Autism
5573	PRKAR1A	HP:0000712	Emotional lability
5573	PRKAR1A	HP:0000713	Agitation
5573	PRKAR1A	HP:0000725	Psychotic episodes
5573	PRKAR1A	HP:0000709	Psychosis
5573	PRKAR1A	HP:0000708	Atypical behavior
5573	PRKAR1A	HP:0011462	Young adult onset
5573	PRKAR1A	HP:0000798	Oligospermia
5573	PRKAR1A	HP:0000790	Hematuria
5573	PRKAR1A	HP:0000787	Nephrolithiasis
5573	PRKAR1A	HP:0003110	Abnormality of urine homeostasis
5573	PRKAR1A	HP:0003118	Increased circulating cortisol level
5573	PRKAR1A	HP:0005756	Neonatal epiphyseal stippling
5573	PRKAR1A	HP:0003196	Short nose
5573	PRKAR1A	HP:0003165	Elevated circulating parathyroid hormone level
5573	PRKAR1A	HP:0004490	Calvarial hyperostosis
5573	PRKAR1A	HP:0000859	Hyperaldosteronism
5573	PRKAR1A	HP:0000858	Irregular menstruation
5573	PRKAR1A	HP:0000851	Congenital hypothyroidism
5573	PRKAR1A	HP:0000852	Pseudohypoparathyroidism
5573	PRKAR1A	HP:0000870	Increased circulating prolactin concentration
5573	PRKAR1A	HP:0000869	Secondary amenorrhea
5573	PRKAR1A	HP:0000866	Euthyroid multinodular goiter
5573	PRKAR1A	HP:0000845	Elevated circulating growth hormone concentration
5573	PRKAR1A	HP:0000819	Diabetes mellitus
5573	PRKAR1A	HP:0000826	Precocious puberty
5573	PRKAR1A	HP:0000822	Hypertension
5573	PRKAR1A	HP:0000824	Decreased response to growth hormone stimulation test
5573	PRKAR1A	HP:0010280	Stomatitis
5573	PRKAR1A	HP:0040071	Abnormal morphology of ulna
5573	PRKAR1A	HP:0012887	Ovarian serous cystadenoma
5573	PRKAR1A	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
5573	PRKAR1A	HP:0000998	Hypertrichosis
5573	PRKAR1A	HP:0000995	Melanocytic nevus
5573	PRKAR1A	HP:0000979	Purpura
5573	PRKAR1A	HP:0000975	Hyperhidrosis
5573	PRKAR1A	HP:0000978	Bruising susceptibility
5573	PRKAR1A	HP:0000952	Jaundice
5573	PRKAR1A	HP:0000967	Petechiae
5573	PRKAR1A	HP:0000963	Thin skin
5573	PRKAR1A	HP:0000939	Osteoporosis
5573	PRKAR1A	HP:0000938	Osteopenia
5573	PRKAR1A	HP:0011672	Cardiac myxoma
5573	PRKAR1A	HP:0000286	Epicanthus
5573	PRKAR1A	HP:0001597	Abnormality of the nail
5573	PRKAR1A	HP:0001596	Alopecia
5573	PRKAR1A	HP:0000272	Malar flattening
5573	PRKAR1A	HP:0002818	Abnormal morphology of the radius
5573	PRKAR1A	HP:0030075	Ductal carcinoma in situ
5573	PRKAR1A	HP:0030072	Paranasal sinus neoplasm
5573	PRKAR1A	HP:0030078	Lung adenocarcinoma
5573	PRKAR1A	HP:0030088	Increased serum testosterone level
5573	PRKAR1A	HP:0002808	Kyphosis
5573	PRKAR1A	HP:0000238	Hydrocephalus
5573	PRKAR1A	HP:0001580	Pigmented micronodular adrenocortical disease
5573	PRKAR1A	HP:0001579	Primary hypercortisolism
5573	PRKAR1A	HP:0000248	Brachycephaly
5573	PRKAR1A	HP:0012206	Abnormal sperm motility
5573	PRKAR1A	HP:0000212	Gingival overgrowth
5573	PRKAR1A	HP:0002875	Exertional dyspnea
5573	PRKAR1A	HP:0002894	Neoplasm of the pancreas
5573	PRKAR1A	HP:0002895	Papillary thyroid carcinoma
5573	PRKAR1A	HP:0002893	Pituitary adenoma
5573	PRKAR1A	HP:0002890	Thyroid carcinoma
5573	PRKAR1A	HP:0000225	Gingival bleeding
5573	PRKAR1A	HP:0001530	Mild postnatal growth retardation
5573	PRKAR1A	HP:0001541	Ascites
5573	PRKAR1A	HP:0030038	Enchondroma
5573	PRKAR1A	HP:0031364	Ecchymosis
5573	PRKAR1A	HP:0001507	Growth abnormality
5573	PRKAR1A	HP:0001518	Small for gestational age
5573	PRKAR1A	HP:0001511	Intrauterine growth retardation
5573	PRKAR1A	HP:0001510	Growth delay
5573	PRKAR1A	HP:0001513	Obesity
5573	PRKAR1A	HP:0007832	Pigmentation of the sclera
5573	PRKAR1A	HP:0012378	Fatigue
5573	PRKAR1A	HP:0002910	Elevated hepatic transaminase
5573	PRKAR1A	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
5573	PRKAR1A	HP:0002920	Decreased circulating ACTH level
5573	PRKAR1A	HP:0005180	Tricuspid regurgitation
5573	PRKAR1A	HP:0002905	Hyperphosphatemia
5573	PRKAR1A	HP:0002900	Hypokalemia
5573	PRKAR1A	HP:0002901	Hypocalcemia
5573	PRKAR1A	HP:0000365	Hearing impairment
5573	PRKAR1A	HP:0002983	Micromelia
5573	PRKAR1A	HP:0000316	Hypertelorism
5573	PRKAR1A	HP:0030140	Oral cavity bleeding
5573	PRKAR1A	HP:0000311	Round face
5573	PRKAR1A	HP:0030148	Heart murmur
5573	PRKAR1A	HP:0000327	Hypoplasia of the maxilla
5573	PRKAR1A	HP:0002984	Hypoplasia of the radius
5573	PRKAR1A	HP:0001640	Cardiomegaly
5573	PRKAR1A	HP:0001635	Congestive heart failure
5573	PRKAR1A	HP:0000303	Mandibular prognathia
5573	PRKAR1A	HP:0006691	Pulmonic valve myxoma
5573	PRKAR1A	HP:0006689	Bacterial endocarditis
5573	PRKAR1A	HP:0005305	Cerebral venous thrombosis
5573	PRKAR1A	HP:0005280	Depressed nasal bridge
5573	PRKAR1A	HP:0000486	Strabismus
5573	PRKAR1A	HP:0000463	Anteverted nares
5573	PRKAR1A	HP:0000455	Broad nasal tip
5573	PRKAR1A	HP:0000457	Depressed nasal ridge
5573	PRKAR1A	HP:0030269	Increased circulating insulin-like growth factor 1 concentration
5573	PRKAR1A	HP:0000431	Wide nasal bridge
5573	PRKAR1A	HP:0000421	Epistaxis
5573	PRKAR1A	HP:0006753	Neoplasm of the stomach
5573	PRKAR1A	HP:0006744	Adrenocortical carcinoma
5573	PRKAR1A	HP:0006731	Follicular thyroid carcinoma
5573	PRKAR1A	HP:0030428	Cutaneous myxoma
5573	PRKAR1A	HP:0005453	Absent/hypoplastic paranasal sinuses
5573	PRKAR1A	HP:0006769	Myxoid subcutaneous tumors
5573	PRKAR1A	HP:0001847	Long hallux
5573	PRKAR1A	HP:0001824	Weight loss
5573	PRKAR1A	HP:0001831	Short toe
5573	PRKAR1A	HP:0030348	Increased circulating androgen concentration
5573	PRKAR1A	HP:0001892	Abnormal bleeding
5573	PRKAR1A	HP:0001882	Leukopenia
5573	PRKAR1A	HP:0001873	Thrombocytopenia
5573	PRKAR1A	HP:0001876	Pancytopenia
5573	PRKAR1A	HP:0001875	Neutropenia
5575	PRKAR1B	HP:0001182	Tapered finger
5575	PRKAR1B	HP:0001156	Brachydactyly
5575	PRKAR1B	HP:0002463	Language impairment
5575	PRKAR1B	HP:0007311	Short stepped shuffling gait
5575	PRKAR1B	HP:0001250	Seizure
5575	PRKAR1B	HP:0001263	Global developmental delay
5575	PRKAR1B	HP:0007373	Motor neuron atrophy
5575	PRKAR1B	HP:0002527	Falls
5575	PRKAR1B	HP:0002506	Diffuse cerebral atrophy
5575	PRKAR1B	HP:0002503	Spinocerebellar tract degeneration
5575	PRKAR1B	HP:0001357	Plagiocephaly
5575	PRKAR1B	HP:0001337	Tremor
5575	PRKAR1B	HP:0000006	Autosomal dominant inheritance
5575	PRKAR1B	HP:0001319	Neonatal hypotonia
5575	PRKAR1B	HP:0001300	Parkinsonism
5575	PRKAR1B	HP:0000176	Submucous cleft hard palate
5575	PRKAR1B	HP:0002714	Downturned corners of mouth
5575	PRKAR1B	HP:0002067	Bradykinesia
5575	PRKAR1B	HP:0002145	Frontotemporal dementia
5575	PRKAR1B	HP:0002172	Postural instability
5575	PRKAR1B	HP:0003593	Infantile onset
5575	PRKAR1B	HP:0003577	Congenital onset
5575	PRKAR1B	HP:0003552	Muscle stiffness
5575	PRKAR1B	HP:0032005	Hemidystonia
5575	PRKAR1B	HP:0010677	Enuresis nocturna
5575	PRKAR1B	HP:0007018	Attention deficit hyperactivity disorder
5575	PRKAR1B	HP:0002362	Shuffling gait
5575	PRKAR1B	HP:0002354	Memory impairment
5575	PRKAR1B	HP:0002333	Motor deterioration
5575	PRKAR1B	HP:0010794	Impaired visuospatial constructive cognition
5575	PRKAR1B	HP:4000079	Sensory seeking
5575	PRKAR1B	HP:0006892	Frontotemporal cerebral atrophy
5575	PRKAR1B	HP:0000601	Hypotelorism
5575	PRKAR1B	HP:0012745	Short palpebral fissure
5575	PRKAR1B	HP:0100023	Recurrent hand flapping
5575	PRKAR1B	HP:0000739	Anxiety
5575	PRKAR1B	HP:0000736	Short attention span
5575	PRKAR1B	HP:0000750	Delayed speech and language development
5575	PRKAR1B	HP:0000741	Apathy
5575	PRKAR1B	HP:0000719	Inappropriate behavior
5575	PRKAR1B	HP:0000718	Aggressive behavior
5575	PRKAR1B	HP:0000726	Dementia
5575	PRKAR1B	HP:0000729	Autistic behavior
5575	PRKAR1B	HP:0012757	Abnormal neuron morphology
5575	PRKAR1B	HP:0040082	Happy demeanor
5575	PRKAR1B	HP:0000286	Epicanthus
5575	PRKAR1B	HP:0000252	Microcephaly
5575	PRKAR1B	HP:0000219	Thin upper lip vermilion
5575	PRKAR1B	HP:0002870	Obstructive sleep apnea
5575	PRKAR1B	HP:0001513	Obesity
5575	PRKAR1B	HP:0011098	Speech apraxia
5575	PRKAR1B	HP:0000358	Posteriorly rotated ears
5575	PRKAR1B	HP:0000341	Narrow forehead
5575	PRKAR1B	HP:0000311	Round face
5575	PRKAR1B	HP:0000403	Recurrent otitis media
5575	PRKAR1B	HP:0005280	Depressed nasal bridge
5575	PRKAR1B	HP:0030216	Inertia
5575	PRKAR1B	HP:0000483	Astigmatism
5575	PRKAR1B	HP:0000455	Broad nasal tip
5575	PRKAR1B	HP:0000473	Torticollis
5575	PRKAR1B	HP:0000582	Upslanted palpebral fissure
5575	PRKAR1B	HP:0000565	Esotropia
5580	PRKCD	HP:0003774	Stage 5 chronic kidney disease
5580	PRKCD	HP:0100827	Lymphocytosis
5580	PRKCD	HP:0001250	Seizure
5580	PRKCD	HP:0002583	Colitis
5580	PRKCD	HP:0410293	Absent isohemagglutinin level
5580	PRKCD	HP:0031041	Obstruction of the superior vena cava
5580	PRKCD	HP:0031020	Bone marrow hypercellularity
5580	PRKCD	HP:0000083	Renal insufficiency
5580	PRKCD	HP:0000099	Glomerulonephritis
5580	PRKCD	HP:0001392	Abnormality of the liver
5580	PRKCD	HP:0001369	Arthritis
5580	PRKCD	HP:0000010	Recurrent urinary tract infections
5580	PRKCD	HP:0002671	Basal cell carcinoma
5580	PRKCD	HP:0000007	Autosomal recessive inheritance
5580	PRKCD	HP:0002665	Lymphoma
5580	PRKCD	HP:0002633	Vasculitis
5580	PRKCD	HP:0012190	T-cell lymphoma
5580	PRKCD	HP:0012191	B-cell lymphoma
5580	PRKCD	HP:0012189	Hodgkin lymphoma
5580	PRKCD	HP:0012178	Reduced natural killer cell activity
5580	PRKCD	HP:0025475	Erythematous macule
5580	PRKCD	HP:0012115	Hepatitis
5580	PRKCD	HP:0008940	Generalized lymphadenopathy
5580	PRKCD	HP:0002783	Recurrent lower respiratory tract infections
5580	PRKCD	HP:0002788	Recurrent upper respiratory tract infections
5580	PRKCD	HP:0000100	Nephrotic syndrome
5580	PRKCD	HP:0001433	Hepatosplenomegaly
5580	PRKCD	HP:0001402	Hepatocellular carcinoma
5580	PRKCD	HP:0002719	Recurrent infections
5580	PRKCD	HP:0002716	Lymphadenopathy
5580	PRKCD	HP:0002730	Chronic noninfectious lymphadenopathy
5580	PRKCD	HP:0002729	Follicular hyperplasia
5580	PRKCD	HP:0002725	Systemic lupus erythematosus
5580	PRKCD	HP:0002721	Immunodeficiency
5580	PRKCD	HP:0002023	Anal atresia
5580	PRKCD	HP:0002097	Emphysema
5580	PRKCD	HP:0002090	Pneumonia
5580	PRKCD	HP:0002091	Restrictive ventilatory defect
5580	PRKCD	HP:0003453	Antineutrophil antibody positivity
5580	PRKCD	HP:0002113	Pulmonary infiltrates
5580	PRKCD	HP:0002110	Bronchiectasis
5580	PRKCD	HP:0003493	Antinuclear antibody positivity
5580	PRKCD	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells
5580	PRKCD	HP:0008209	Premature ovarian insufficiency
5580	PRKCD	HP:0002240	Hepatomegaly
5580	PRKCD	HP:0003565	Elevated erythrocyte sedimentation rate
5580	PRKCD	HP:0002205	Recurrent respiratory infections
5580	PRKCD	HP:0002206	Pulmonary fibrosis
5580	PRKCD	HP:0010702	Increased circulating antibody level
5580	PRKCD	HP:0100721	Mediastinal lymphadenopathy
5580	PRKCD	HP:0100723	Gastrointestinal stroma tumor
5580	PRKCD	HP:0010619	Fibroadenoma of the breast
5580	PRKCD	HP:0004844	Coombs-positive hemolytic anemia
5580	PRKCD	HP:0020072	Persistent EBV viremia
5580	PRKCD	HP:0001025	Urticaria
5580	PRKCD	HP:0002315	Headache
5580	PRKCD	HP:0100648	Neoplasm of the tongue
5580	PRKCD	HP:0100646	Thyroiditis
5580	PRKCD	HP:0003613	Antiphospholipid antibody positivity
5580	PRKCD	HP:0020136	Anticardiolipin IgG antibody positivity
5580	PRKCD	HP:0005528	Bone marrow hypocellularity
5580	PRKCD	HP:0005523	Lymphoproliferative disorder
5580	PRKCD	HP:0001971	Hypersplenism
5580	PRKCD	HP:0001973	Autoimmune thrombocytopenia
5580	PRKCD	HP:0001954	Recurrent fever
5580	PRKCD	HP:0001923	Reticulocytosis
5580	PRKCD	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
5580	PRKCD	HP:0004315	Decreased circulating IgG level
5580	PRKCD	HP:0031956	Elevated circulating aspartate aminotransferase concentration
5580	PRKCD	HP:0031964	Elevated circulating alanine aminotransferase concentration
5580	PRKCD	HP:0004313	Decreased circulating antibody level
5580	PRKCD	HP:0030782	Abnormal circulating interleukin concentration
5580	PRKCD	HP:0040126	Abnormal vitamin B12 level
5580	PRKCD	HP:0000854	Thyroid adenoma
5580	PRKCD	HP:0003237	Increased circulating IgG level
5580	PRKCD	HP:0003212	Increased circulating IgE level
5580	PRKCD	HP:0045042	Decreased circulating complement C4 concentration
5580	PRKCD	HP:0003261	Increased circulating IgA level
5580	PRKCD	HP:0000979	Purpura
5580	PRKCD	HP:0000978	Bruising susceptibility
5580	PRKCD	HP:0008069	Neoplasm of the skin
5580	PRKCD	HP:0001596	Alopecia
5580	PRKCD	HP:0031392	Abnormal proportion of CD4-positive T cells
5580	PRKCD	HP:0031393	Abnormal proportion of CD8-positive T cells
5580	PRKCD	HP:0002829	Arthralgia
5580	PRKCD	HP:0030080	Burkitt lymphoma
5580	PRKCD	HP:0000248	Brachycephaly
5580	PRKCD	HP:0002890	Thyroid carcinoma
5580	PRKCD	HP:0001531	Failure to thrive in infancy
5580	PRKCD	HP:0002837	Recurrent bronchitis
5580	PRKCD	HP:0002850	Decreased circulating total IgM
5580	PRKCD	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
5580	PRKCD	HP:0002848	Decreased specific anti-polysaccharide antibody level
5580	PRKCD	HP:0000389	Chronic otitis media
5580	PRKCD	HP:0000388	Otitis media
5580	PRKCD	HP:0005263	Gastritis
5580	PRKCD	HP:0002910	Elevated hepatic transaminase
5580	PRKCD	HP:0002923	Rheumatoid factor positive
5580	PRKCD	HP:0002960	Autoimmunity
5580	PRKCD	HP:0012490	Panniculitis
5580	PRKCD	HP:0000403	Recurrent otitis media
5580	PRKCD	HP:0001789	Hydrops fetalis
5580	PRKCD	HP:0011108	Recurrent sinusitis
5580	PRKCD	HP:0011107	Recurrent aphthous stomatitis
5580	PRKCD	HP:0001744	Splenomegaly
5580	PRKCD	HP:0005407	Decreased proportion of CD4-positive helper T cells
5580	PRKCD	HP:0005404	Increased B cell count
5580	PRKCD	HP:0005421	Decreased circulating complement C3 concentration
5580	PRKCD	HP:0006783	Posterior pharyngeal cleft
5580	PRKCD	HP:0012578	Membranous nephropathy
5580	PRKCD	HP:0011227	Elevated circulating C-reactive protein concentration
5580	PRKCD	HP:0001892	Abnormal bleeding
5580	PRKCD	HP:0001890	Autoimmune hemolytic anemia
5580	PRKCD	HP:0030374	Decreased proportion of memory B cells
5580	PRKCD	HP:0001888	Lymphopenia
5580	PRKCD	HP:0000554	Uveitis
5580	PRKCD	HP:0030388	Decreased proportion of class-switched memory B cells
5580	PRKCD	HP:0012539	Non-Hodgkin lymphoma
5580	PRKCD	HP:0001880	Eosinophilia
5580	PRKCD	HP:0001878	Hemolytic anemia
5582	PRKCG	HP:0001152	Saccadic smooth pursuit
5582	PRKCG	HP:0001290	Generalized hypotonia
5582	PRKCG	HP:0001272	Cerebellar atrophy
5582	PRKCG	HP:0001268	Mental deterioration
5582	PRKCG	HP:0001260	Dysarthria
5582	PRKCG	HP:0003829	Typified by incomplete penetrance
5582	PRKCG	HP:0001347	Hyperreflexia
5582	PRKCG	HP:0001337	Tremor
5582	PRKCG	HP:0000006	Autosomal dominant inheritance
5582	PRKCG	HP:0001336	Myoclonus
5582	PRKCG	HP:0001310	Dysmetria
5582	PRKCG	HP:0002600	Hyporeflexia of lower limbs
5582	PRKCG	HP:0002015	Dysphagia
5582	PRKCG	HP:0100543	Cognitive impairment
5582	PRKCG	HP:0002066	Gait ataxia
5582	PRKCG	HP:0002063	Rigidity
5582	PRKCG	HP:0002073	Progressive cerebellar ataxia
5582	PRKCG	HP:0002070	Limb ataxia
5582	PRKCG	HP:0003474	Somatic sensory dysfunction
5582	PRKCG	HP:0007018	Attention deficit hyperactivity disorder
5582	PRKCG	HP:0002354	Memory impairment
5582	PRKCG	HP:0003677	Slowly progressive
5582	PRKCG	HP:0006855	Cerebellar vermis atrophy
5582	PRKCG	HP:0000640	Gaze-evoked nystagmus
5582	PRKCG	HP:0000639	Nystagmus
5582	PRKCG	HP:0006938	Impaired vibration sensation at ankles
5582	PRKCG	HP:0004373	Focal dystonia
5582	PRKCG	HP:0000716	Depression
5582	PRKCG	HP:0005109	Abnormality of the Achilles tendon
5582	PRKCG	HP:0000317	Facial myokymia
5583	PRKCH	HP:0001297	Stroke
5583	PRKCH	HP:0001426	Multifactorial inheritance
5583	PRKCH	HP:0003581	Adult onset
5587	PRKD1	HP:0009890	High anterior hairline
5587	PRKD1	HP:0001290	Generalized hypotonia
5587	PRKD1	HP:0001263	Global developmental delay
5587	PRKD1	HP:0001328	Specific learning disability
5587	PRKD1	HP:0000006	Autosomal dominant inheritance
5587	PRKD1	HP:0002650	Scoliosis
5587	PRKD1	HP:0006323	Premature loss of primary teeth
5587	PRKD1	HP:0002007	Frontal bossing
5587	PRKD1	HP:0003577	Congenital onset
5587	PRKD1	HP:0002209	Sparse scalp hair
5587	PRKD1	HP:0007018	Attention deficit hyperactivity disorder
5587	PRKD1	HP:0011968	Feeding difficulties
5587	PRKD1	HP:0010747	Medial flaring of the eyebrow
5587	PRKD1	HP:0000639	Nystagmus
5587	PRKD1	HP:0000691	Microdontia
5587	PRKD1	HP:0000687	Widely spaced teeth
5587	PRKD1	HP:0011304	Broad thumb
5587	PRKD1	HP:0000750	Delayed speech and language development
5587	PRKD1	HP:0005709	2-3 toe cutaneous syndactyly
5587	PRKD1	HP:0000958	Dry skin
5587	PRKD1	HP:0000963	Thin skin
5587	PRKD1	HP:0000252	Microcephaly
5587	PRKD1	HP:0000248	Brachycephaly
5587	PRKD1	HP:0006695	Atrioventricular canal defect
5587	PRKD1	HP:0005280	Depressed nasal bridge
5587	PRKD1	HP:0000463	Anteverted nares
5587	PRKD1	HP:0000426	Prominent nasal bridge
5587	PRKD1	HP:0001808	Fragile nails
5587	PRKD1	HP:0001869	Deep plantar creases
5589	PRKCSH	HP:0008872	Feeding difficulties in infancy
5589	PRKCSH	HP:0000006	Autosomal dominant inheritance
5589	PRKCSH	HP:0002617	Vascular dilatation
5589	PRKCSH	HP:0000107	Renal cyst
5589	PRKCSH	HP:0002020	Gastroesophageal reflux
5589	PRKCSH	HP:0002027	Abdominal pain
5589	PRKCSH	HP:0002086	Abnormality of the respiratory system
5589	PRKCSH	HP:0002094	Dyspnea
5589	PRKCSH	HP:0002093	Respiratory insufficiency
5589	PRKCSH	HP:0003418	Back pain
5589	PRKCSH	HP:0003573	Increased total bilirubin
5589	PRKCSH	HP:0002240	Hepatomegaly
5589	PRKCSH	HP:0002239	Gastrointestinal hemorrhage
5589	PRKCSH	HP:0003581	Adult onset
5589	PRKCSH	HP:0004944	Dilatation of the cerebral artery
5589	PRKCSH	HP:0005562	Multiple renal cysts
5589	PRKCSH	HP:0000707	Abnormality of the nervous system
5589	PRKCSH	HP:0003155	Elevated circulating alkaline phosphatase concentration
5589	PRKCSH	HP:0003270	Abdominal distention
5589	PRKCSH	HP:0001541	Ascites
5589	PRKCSH	HP:0006557	Polycystic liver disease
5589	PRKCSH	HP:0001626	Abnormality of the cardiovascular system
5589	PRKCSH	HP:0001732	Abnormality of the pancreas
5590	PRKCZ	HP:0001156	Brachydactyly
5590	PRKCZ	HP:0002465	Poor speech
5590	PRKCZ	HP:0001107	Ocular albinism
5590	PRKCZ	HP:0008551	Microtia
5590	PRKCZ	HP:0001274	Agenesis of corpus callosum
5590	PRKCZ	HP:0001288	Gait disturbance
5590	PRKCZ	HP:0001250	Seizure
5590	PRKCZ	HP:0001252	Hypotonia
5590	PRKCZ	HP:0001249	Intellectual disability
5590	PRKCZ	HP:0002591	Polyphagia
5590	PRKCZ	HP:0001263	Global developmental delay
5590	PRKCZ	HP:0008736	Hypoplasia of penis
5590	PRKCZ	HP:0001397	Hepatic steatosis
5590	PRKCZ	HP:0001392	Abnormality of the liver
5590	PRKCZ	HP:0000077	Abnormality of the kidney
5590	PRKCZ	HP:0000055	Abnormality of female external genitalia
5590	PRKCZ	HP:0001385	Hip dysplasia
5590	PRKCZ	HP:0001387	Joint stiffness
5590	PRKCZ	HP:0000047	Hypospadias
5590	PRKCZ	HP:0000028	Cryptorchidism
5590	PRKCZ	HP:0008872	Feeding difficulties in infancy
5590	PRKCZ	HP:0001344	Absent speech
5590	PRKCZ	HP:0002650	Scoliosis
5590	PRKCZ	HP:0000160	Narrow mouth
5590	PRKCZ	HP:0000135	Hypogonadism
5590	PRKCZ	HP:0000126	Hydronephrosis
5590	PRKCZ	HP:0000107	Renal cyst
5590	PRKCZ	HP:0002715	Abnormality of the immune system
5590	PRKCZ	HP:0002021	Pyloric stenosis
5590	PRKCZ	HP:0002020	Gastroesophageal reflux
5590	PRKCZ	HP:0002019	Constipation
5590	PRKCZ	HP:0002015	Dysphagia
5590	PRKCZ	HP:0002007	Frontal bossing
5590	PRKCZ	HP:0011800	Midface retrusion
5590	PRKCZ	HP:0100559	Lower limb asymmetry
5590	PRKCZ	HP:0002120	Cerebral cortical atrophy
5590	PRKCZ	HP:0002119	Ventriculomegaly
5590	PRKCZ	HP:0003416	Spinal canal stenosis
5590	PRKCZ	HP:0002167	Abnormality of speech or vocalization
5590	PRKCZ	HP:0100490	Camptodactyly of finger
5590	PRKCZ	HP:0002242	Abnormal intestine morphology
5590	PRKCZ	HP:0100716	Self-injurious behavior
5590	PRKCZ	HP:0002230	Generalized hirsutism
5590	PRKCZ	HP:0001009	Telangiectasia
5590	PRKCZ	HP:0002353	EEG abnormality
5590	PRKCZ	HP:0008499	High hypermetropia
5590	PRKCZ	HP:0004209	Clinodactyly of the 5th finger
5590	PRKCZ	HP:0006824	Cranial nerve paralysis
5590	PRKCZ	HP:0000639	Nystagmus
5590	PRKCZ	HP:0000648	Optic atrophy
5590	PRKCZ	HP:0004322	Short stature
5590	PRKCZ	HP:0030680	Abnormality of cardiovascular system morphology
5590	PRKCZ	HP:0004378	Abnormality of the anus
5590	PRKCZ	HP:0004374	Hemiplegia/hemiparesis
5590	PRKCZ	HP:0003006	Neuroblastoma
5590	PRKCZ	HP:0012733	Macule
5590	PRKCZ	HP:0000733	Abnormal repetitive mannerisms
5590	PRKCZ	HP:0000750	Delayed speech and language development
5590	PRKCZ	HP:0000717	Autism
5590	PRKCZ	HP:0000708	Atypical behavior
5590	PRKCZ	HP:0003198	Myopathy
5590	PRKCZ	HP:0000902	Rib fusion
5590	PRKCZ	HP:0000878	11 pairs of ribs
5590	PRKCZ	HP:0000892	Bifid ribs
5590	PRKCZ	HP:0000821	Hypothyroidism
5590	PRKCZ	HP:0008066	Abnormal blistering of the skin
5590	PRKCZ	HP:0000286	Epicanthus
5590	PRKCZ	HP:0000270	Delayed cranial suture closure
5590	PRKCZ	HP:0005113	Aortic arch aneurysm
5590	PRKCZ	HP:0002808	Kyphosis
5590	PRKCZ	HP:0000252	Microcephaly
5590	PRKCZ	HP:0000248	Brachycephaly
5590	PRKCZ	HP:0001508	Failure to thrive
5590	PRKCZ	HP:0001513	Obesity
5590	PRKCZ	HP:0000368	Low-set, posteriorly rotated ears
5590	PRKCZ	HP:0001671	Abnormal cardiac septum morphology
5590	PRKCZ	HP:0000343	Long philtrum
5590	PRKCZ	HP:0001643	Patent ductus arteriosus
5590	PRKCZ	HP:0001644	Dilated cardiomyopathy
5590	PRKCZ	HP:0001654	Abnormal heart valve morphology
5590	PRKCZ	HP:0001636	Tetralogy of Fallot
5590	PRKCZ	HP:0000307	Pointed chin
5590	PRKCZ	HP:0000407	Sensorineural hearing impairment
5590	PRKCZ	HP:0001734	Annular pancreas
5590	PRKCZ	HP:0000405	Conductive hearing impairment
5590	PRKCZ	HP:0005280	Depressed nasal bridge
5590	PRKCZ	HP:0000486	Strabismus
5590	PRKCZ	HP:0000490	Deeply set eye
5590	PRKCZ	HP:0000464	Abnormality of the neck
5590	PRKCZ	HP:0000457	Depressed nasal ridge
5590	PRKCZ	HP:0001773	Short foot
5590	PRKCZ	HP:0001743	Abnormality of the spleen
5590	PRKCZ	HP:0000431	Wide nasal bridge
5590	PRKCZ	HP:0000518	Cataract
5590	PRKCZ	HP:0001829	Foot polydactyly
5590	PRKCZ	HP:0000505	Visual impairment
5590	PRKCZ	HP:0000504	Abnormality of vision
5590	PRKCZ	HP:0011228	Horizontal eyebrow
5590	PRKCZ	HP:0000534	Abnormal eyebrow morphology
5591	PRKDC	HP:0009879	Simplified gyral pattern
5591	PRKDC	HP:0001250	Seizure
5591	PRKDC	HP:0010976	B lymphocytopenia
5591	PRKDC	HP:0000054	Micropenis
5591	PRKDC	HP:0000007	Autosomal recessive inheritance
5591	PRKDC	HP:0001302	Pachygyria
5591	PRKDC	HP:0001320	Cerebellar vermis hypoplasia
5591	PRKDC	HP:0012176	Abnormal natural killer cell morphology
5591	PRKDC	HP:0002783	Recurrent lower respiratory tract infections
5591	PRKDC	HP:0002079	Hypoplasia of the corpus callosum
5591	PRKDC	HP:0003429	CNS hypomyelination
5591	PRKDC	HP:0010557	Overlapping fingers
5591	PRKDC	HP:0003593	Infantile onset
5591	PRKDC	HP:0004430	Severe combined immunodeficiency
5591	PRKDC	HP:0000252	Microcephaly
5591	PRKDC	HP:0000219	Thin upper lip vermilion
5591	PRKDC	HP:0001511	Intrauterine growth retardation
5591	PRKDC	HP:0000369	Low-set ears
5591	PRKDC	HP:0000343	Long philtrum
5591	PRKDC	HP:0000331	Short chin
5591	PRKDC	HP:0000407	Sensorineural hearing impairment
5591	PRKDC	HP:0000490	Deeply set eye
5591	PRKDC	HP:0012444	Brain atrophy
5591	PRKDC	HP:0011107	Recurrent aphthous stomatitis
5591	PRKDC	HP:0000431	Wide nasal bridge
5591	PRKDC	HP:0005403	T lymphocytopenia
5591	PRKDC	HP:0000505	Visual impairment
5591	PRKDC	HP:0011220	Prominent forehead
5592	PRKG1	HP:0001166	Arachnodactyly
5592	PRKG1	HP:0001297	Stroke
5592	PRKG1	HP:0000098	Tall stature
5592	PRKG1	HP:0002686	Prenatal maternal abnormality
5592	PRKG1	HP:0000023	Inguinal hernia
5592	PRKG1	HP:0000006	Autosomal dominant inheritance
5592	PRKG1	HP:0002650	Scoliosis
5592	PRKG1	HP:0002647	Aortic dissection
5592	PRKG1	HP:0002616	Aortic root aneurysm
5592	PRKG1	HP:0012163	Carotid artery dilatation
5592	PRKG1	HP:0002705	High, narrow palate
5592	PRKG1	HP:0002140	Ischemic stroke
5592	PRKG1	HP:0002138	Subarachnoid hemorrhage
5592	PRKG1	HP:0002107	Pneumothorax
5592	PRKG1	HP:0002105	Hemoptysis
5592	PRKG1	HP:0003581	Adult onset
5592	PRKG1	HP:0003549	Abnormality of connective tissue
5592	PRKG1	HP:0200146	Mucoid extracellular matrix accumulation
5592	PRKG1	HP:0100775	Dural ectasia
5592	PRKG1	HP:0100749	Chest pain
5592	PRKG1	HP:0002326	Transient ischemic attack
5592	PRKG1	HP:0004959	Descending thoracic aorta aneurysm
5592	PRKG1	HP:0004933	Ascending aortic dissection
5592	PRKG1	HP:0004950	Peripheral arterial stenosis
5592	PRKG1	HP:0004944	Dilatation of the cerebral artery
5592	PRKG1	HP:0000766	Abnormal sternum morphology
5592	PRKG1	HP:0012763	Paroxysmal dyspnea
5592	PRKG1	HP:0000822	Hypertension
5592	PRKG1	HP:0030882	Coronary artery aneurysm
5592	PRKG1	HP:0000978	Bruising susceptibility
5592	PRKG1	HP:0000965	Cutis marmorata
5592	PRKG1	HP:0000278	Retrognathia
5592	PRKG1	HP:0005112	Abdominal aortic aneurysm
5592	PRKG1	HP:0002875	Exertional dyspnea
5592	PRKG1	HP:0005162	Abnormal left ventricular function
5592	PRKG1	HP:0001677	Coronary artery atherosclerosis
5592	PRKG1	HP:0001647	Bicuspid aortic valve
5592	PRKG1	HP:0000316	Hypertelorism
5592	PRKG1	HP:0001643	Patent ductus arteriosus
5592	PRKG1	HP:0001659	Aortic regurgitation
5592	PRKG1	HP:0001640	Cardiomegaly
5592	PRKG1	HP:0012499	Descending aortic dissection
5592	PRKG1	HP:0011106	Hypovolemia
5592	PRKG1	HP:0001763	Pes planus
5592	PRKG1	HP:0006702	Coronary artery dissection
5592	PRKG1	HP:0000525	Abnormality iris morphology
5593	PRKG2	HP:0001252	Hypotonia
5593	PRKG2	HP:0003890	Prominent deltoid tuberosities
5593	PRKG2	HP:0006009	Broad phalanx
5593	PRKG2	HP:0000007	Autosomal recessive inheritance
5593	PRKG2	HP:0002645	Wormian bones
5593	PRKG2	HP:0008905	Rhizomelia
5593	PRKG2	HP:0002753	Thin bony cortex
5593	PRKG2	HP:0002750	Delayed skeletal maturation
5593	PRKG2	HP:0003498	Disproportionate short stature
5593	PRKG2	HP:0003593	Infantile onset
5593	PRKG2	HP:0002230	Generalized hirsutism
5593	PRKG2	HP:0011968	Feeding difficulties
5593	PRKG2	HP:0009803	Short phalanx of finger
5593	PRKG2	HP:0010743	Short metatarsal
5593	PRKG2	HP:0003621	Juvenile onset
5593	PRKG2	HP:0010049	Short metacarpal
5593	PRKG2	HP:0010047	Short 5th metacarpal
5593	PRKG2	HP:0010044	Short 4th metacarpal
5593	PRKG2	HP:0011304	Broad thumb
5593	PRKG2	HP:0000664	Synophrys
5593	PRKG2	HP:0004322	Short stature
5593	PRKG2	HP:0005616	Accelerated skeletal maturation
5593	PRKG2	HP:0003031	Ulnar bowing
5593	PRKG2	HP:0003015	Flared metaphysis
5593	PRKG2	HP:0003027	Mesomelia
5593	PRKG2	HP:0003025	Metaphyseal irregularity
5593	PRKG2	HP:0011463	Childhood onset
5593	PRKG2	HP:0000926	Platyspondyly
5593	PRKG2	HP:0000920	Enlargement of the costochondral junction
5593	PRKG2	HP:0000884	Prominent sternum
5593	PRKG2	HP:0004568	Beaking of vertebral bodies
5593	PRKG2	HP:0004592	Thoracic platyspondyly
5593	PRKG2	HP:0000998	Hypertrichosis
5593	PRKG2	HP:0009381	Short finger
5593	PRKG2	HP:0002857	Genu valgum
5593	PRKG2	HP:0001537	Umbilical hernia
5593	PRKG2	HP:0001500	Broad finger
5593	PRKG2	HP:0002938	Lumbar hyperlordosis
5593	PRKG2	HP:0002942	Thoracic kyphosis
5593	PRKG2	HP:0002943	Thoracic scoliosis
5593	PRKG2	HP:0000369	Low-set ears
5593	PRKG2	HP:0002980	Femoral bowing
5593	PRKG2	HP:0002986	Radial bowing
5593	PRKG2	HP:0000325	Triangular face
5593	PRKG2	HP:0002970	Genu varum
5593	PRKG2	HP:0000307	Pointed chin
5593	PRKG2	HP:0000303	Mandibular prognathia
5593	PRKG2	HP:0001709	Third degree atrioventricular block
5593	PRKG2	HP:0012450	Chronic constipation
5593	PRKG2	HP:0001763	Pes planus
5593	PRKG2	HP:0000431	Wide nasal bridge
5593	PRKG2	HP:0001852	Sandal gap
5593	PRKG2	HP:0001837	Broad toe
5593	PRKG2	HP:0001831	Short toe
5593	PRKG2	HP:0000592	Blue sclerae
5593	PRKG2	HP:0000574	Thick eyebrow
5594	MAPK1	HP:0001182	Tapered finger
5594	MAPK1	HP:0001166	Arachnodactyly
5594	MAPK1	HP:0002463	Language impairment
5594	MAPK1	HP:0009882	Short distal phalanx of finger
5594	MAPK1	HP:0001290	Generalized hypotonia
5594	MAPK1	HP:0001250	Seizure
5594	MAPK1	HP:0001249	Intellectual disability
5594	MAPK1	HP:0001263	Global developmental delay
5594	MAPK1	HP:0002553	Highly arched eyebrow
5594	MAPK1	HP:0000081	Duplicated collecting system
5594	MAPK1	HP:0025352	Typically de novo
5594	MAPK1	HP:0001377	Limited elbow extension
5594	MAPK1	HP:0001388	Joint laxity
5594	MAPK1	HP:0000023	Inguinal hernia
5594	MAPK1	HP:0001357	Plagiocephaly
5594	MAPK1	HP:0000028	Cryptorchidism
5594	MAPK1	HP:0002664	Neoplasm
5594	MAPK1	HP:0000010	Recurrent urinary tract infections
5594	MAPK1	HP:0002673	Coxa valga
5594	MAPK1	HP:0000006	Autosomal dominant inheritance
5594	MAPK1	HP:0002650	Scoliosis
5594	MAPK1	HP:0002607	Bowel incontinence
5594	MAPK1	HP:0012168	Head-banging
5594	MAPK1	HP:0000160	Narrow mouth
5594	MAPK1	HP:0000175	Cleft palate
5594	MAPK1	HP:0000154	Wide mouth
5594	MAPK1	HP:0002705	High, narrow palate
5594	MAPK1	HP:0002721	Immunodeficiency
5594	MAPK1	HP:0002021	Pyloric stenosis
5594	MAPK1	HP:0002020	Gastroesophageal reflux
5594	MAPK1	HP:0003307	Hyperlordosis
5594	MAPK1	HP:0100559	Lower limb asymmetry
5594	MAPK1	HP:0009465	Ulnar deviation of finger
5594	MAPK1	HP:0002197	Generalized-onset seizure
5594	MAPK1	HP:0002162	Low posterior hairline
5594	MAPK1	HP:0100490	Camptodactyly of finger
5594	MAPK1	HP:0002230	Generalized hirsutism
5594	MAPK1	HP:0002205	Recurrent respiratory infections
5594	MAPK1	HP:0007018	Attention deficit hyperactivity disorder
5594	MAPK1	HP:0002389	Cavum septum pellucidum
5594	MAPK1	HP:0001004	Lymphedema
5594	MAPK1	HP:0001003	Multiple lentigines
5594	MAPK1	HP:0010806	U-Shaped upper lip vermilion
5594	MAPK1	HP:0100625	Enlarged thorax
5594	MAPK1	HP:0009795	Branchial fistula
5594	MAPK1	HP:0004942	Aortic aneurysm
5594	MAPK1	HP:0004209	Clinodactyly of the 5th finger
5594	MAPK1	HP:0004279	Short palm
5594	MAPK1	HP:0000635	Blue irides
5594	MAPK1	HP:0000691	Microdontia
5594	MAPK1	HP:0000687	Widely spaced teeth
5594	MAPK1	HP:0000657	Oculomotor apraxia
5594	MAPK1	HP:0004322	Short stature
5594	MAPK1	HP:0005692	Joint hyperflexibility
5594	MAPK1	HP:0100033	Tics
5594	MAPK1	HP:0000739	Anxiety
5594	MAPK1	HP:0000750	Delayed speech and language development
5594	MAPK1	HP:0000716	Depression
5594	MAPK1	HP:0000718	Aggressive behavior
5594	MAPK1	HP:0000722	Compulsive behaviors
5594	MAPK1	HP:0010296	Ankyloglossia
5594	MAPK1	HP:0000998	Hypertrichosis
5594	MAPK1	HP:0000978	Bruising susceptibility
5594	MAPK1	HP:0000958	Dry skin
5594	MAPK1	HP:0000957	Cafe-au-lait spot
5594	MAPK1	HP:0000286	Epicanthus
5594	MAPK1	HP:0000280	Coarse facial features
5594	MAPK1	HP:0000276	Long face
5594	MAPK1	HP:0000272	Malar flattening
5594	MAPK1	HP:0030084	Clinodactyly
5594	MAPK1	HP:0000252	Microcephaly
5594	MAPK1	HP:0000219	Thin upper lip vermilion
5594	MAPK1	HP:0000218	High palate
5594	MAPK1	HP:0001511	Intrauterine growth retardation
5594	MAPK1	HP:0001510	Growth delay
5594	MAPK1	HP:0007874	Almond-shaped palpebral fissure
5594	MAPK1	HP:0001609	Hoarse voice
5594	MAPK1	HP:0006487	Bowing of the long bones
5594	MAPK1	HP:0000363	Abnormal earlobe morphology
5594	MAPK1	HP:0000358	Posteriorly rotated ears
5594	MAPK1	HP:0000369	Low-set ears
5594	MAPK1	HP:0000341	Narrow forehead
5594	MAPK1	HP:0000343	Long philtrum
5594	MAPK1	HP:0000348	High forehead
5594	MAPK1	HP:0000347	Micrognathia
5594	MAPK1	HP:0000319	Smooth philtrum
5594	MAPK1	HP:0000316	Hypertelorism
5594	MAPK1	HP:0001660	Truncus arteriosus
5594	MAPK1	HP:0001659	Aortic regurgitation
5594	MAPK1	HP:0001653	Mitral regurgitation
5594	MAPK1	HP:0000324	Facial asymmetry
5594	MAPK1	HP:0001629	Ventricular septal defect
5594	MAPK1	HP:0001622	Premature birth
5594	MAPK1	HP:0000307	Pointed chin
5594	MAPK1	HP:0002967	Cubitus valgus
5594	MAPK1	HP:0001631	Atrial septal defect
5594	MAPK1	HP:0001634	Mitral valve prolapse
5594	MAPK1	HP:0000407	Sensorineural hearing impairment
5594	MAPK1	HP:0000403	Recurrent otitis media
5594	MAPK1	HP:0012469	Infantile spasms
5594	MAPK1	HP:0000494	Downslanted palpebral fissures
5594	MAPK1	HP:0000490	Deeply set eye
5594	MAPK1	HP:0000463	Anteverted nares
5594	MAPK1	HP:0000470	Short neck
5594	MAPK1	HP:0000465	Webbed neck
5594	MAPK1	HP:0001770	Toe syndactyly
5594	MAPK1	HP:0001763	Pes planus
5594	MAPK1	HP:0000453	Choanal atresia
5594	MAPK1	HP:0001776	Bilateral talipes equinovarus
5594	MAPK1	HP:0000431	Wide nasal bridge
5594	MAPK1	HP:0000430	Underdeveloped nasal alae
5594	MAPK1	HP:0000426	Prominent nasal bridge
5594	MAPK1	HP:0005487	Prominent metopic ridge
5594	MAPK1	HP:0001845	Overlapping toe
5594	MAPK1	HP:0001840	Metatarsus adductus
5594	MAPK1	HP:0001852	Sandal gap
5594	MAPK1	HP:0000508	Ptosis
5594	MAPK1	HP:0001802	Absent toenail
5594	MAPK1	HP:0001817	Absent fingernail
5594	MAPK1	HP:0000581	Blepharophimosis
5594	MAPK1	HP:0011229	Broad eyebrow
5602	MAPK10	HP:0007270	Atypical absence seizure
5602	MAPK10	HP:0001298	Encephalopathy
5602	MAPK10	HP:0001268	Mental deterioration
5602	MAPK10	HP:0001249	Intellectual disability
5602	MAPK10	HP:0007359	Focal-onset seizure
5602	MAPK10	HP:0002527	Falls
5602	MAPK10	HP:0012075	Personality disorder
5602	MAPK10	HP:0001336	Myoclonus
5602	MAPK10	HP:0002069	Bilateral tonic-clonic seizure
5602	MAPK10	HP:0002123	Generalized myoclonic seizure
5602	MAPK10	HP:0002363	Abnormal brainstem morphology
5602	MAPK10	HP:0002353	EEG abnormality
5602	MAPK10	HP:0010819	Atonic seizure
5602	MAPK10	HP:0010818	Generalized tonic seizure
5602	MAPK10	HP:0000752	Hyperactivity
5602	MAPK10	HP:0000718	Aggressive behavior
5602	MAPK10	HP:0000729	Autistic behavior
5602	MAPK10	HP:0000708	Atypical behavior
5602	MAPK10	HP:0011195	EEG with focal sharp slow waves
5604	MAP2K1	HP:0001156	Brachydactyly
5604	MAP2K1	HP:0009891	Underdeveloped supraorbital ridges
5604	MAP2K1	HP:0003745	Sporadic
5604	MAP2K1	HP:0001250	Seizure
5604	MAP2K1	HP:0001252	Hypotonia
5604	MAP2K1	HP:0001249	Intellectual disability
5604	MAP2K1	HP:0001260	Dysarthria
5604	MAP2K1	HP:0001263	Global developmental delay
5604	MAP2K1	HP:0007440	Generalized hyperpigmentation
5604	MAP2K1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5604	MAP2K1	HP:0007392	Excessive wrinkled skin
5604	MAP2K1	HP:0000047	Hypospadias
5604	MAP2K1	HP:0000028	Cryptorchidism
5604	MAP2K1	HP:0007565	Multiple cafe-au-lait spots
5604	MAP2K1	HP:0008897	Postnatal growth retardation
5604	MAP2K1	HP:0008872	Feeding difficulties in infancy
5604	MAP2K1	HP:0006191	Deep palmar crease
5604	MAP2K1	HP:0000006	Autosomal dominant inheritance
5604	MAP2K1	HP:0002650	Scoliosis
5604	MAP2K1	HP:0000176	Submucous cleft hard palate
5604	MAP2K1	HP:0000175	Cleft palate
5604	MAP2K1	HP:0000135	Hypogonadism
5604	MAP2K1	HP:0000154	Wide mouth
5604	MAP2K1	HP:0002705	High, narrow palate
5604	MAP2K1	HP:0000126	Hydronephrosis
5604	MAP2K1	HP:0002751	Kyphoscoliosis
5604	MAP2K1	HP:0002007	Frontal bossing
5604	MAP2K1	HP:0002046	Heat intolerance
5604	MAP2K1	HP:0009466	Radial deviation of finger
5604	MAP2K1	HP:0002120	Cerebral cortical atrophy
5604	MAP2K1	HP:0002167	Abnormality of speech or vocalization
5604	MAP2K1	HP:0002162	Low posterior hairline
5604	MAP2K1	HP:0002224	Woolly hair
5604	MAP2K1	HP:0200102	Sparse or absent eyelashes
5604	MAP2K1	HP:0002217	Slow-growing hair
5604	MAP2K1	HP:0004859	Amegakaryocytic thrombocytopenia
5604	MAP2K1	HP:0002212	Curly hair
5604	MAP2K1	HP:0002213	Fine hair
5604	MAP2K1	HP:0100769	Synovitis
5604	MAP2K1	HP:0100774	Hyperostosis
5604	MAP2K1	HP:0002299	Brittle hair
5604	MAP2K1	HP:0010669	Hypoplasia of the zygomatic bone
5604	MAP2K1	HP:0008357	Reduced factor XIII activity
5604	MAP2K1	HP:0004841	Reduced factor XII activity
5604	MAP2K1	HP:0008391	Dystrophic fingernails
5604	MAP2K1	HP:0001048	Cavernous hemangioma
5604	MAP2K1	HP:0003676	Progressive
5604	MAP2K1	HP:0001004	Lymphedema
5604	MAP2K1	HP:0002353	EEG abnormality
5604	MAP2K1	HP:0001003	Multiple lentigines
5604	MAP2K1	HP:0032152	Keratosis pilaris
5604	MAP2K1	HP:0100697	Neurofibrosarcoma
5604	MAP2K1	HP:0000639	Nystagmus
5604	MAP2K1	HP:0000637	Long palpebral fissure
5604	MAP2K1	HP:0000648	Optic atrophy
5604	MAP2K1	HP:0000689	Dental malocclusion
5604	MAP2K1	HP:0004322	Short stature
5604	MAP2K1	HP:0030680	Abnormality of cardiovascular system morphology
5604	MAP2K1	HP:0004349	Reduced bone mineral density
5604	MAP2K1	HP:0000767	Pectus excavatum
5604	MAP2K1	HP:0000766	Abnormal sternum morphology
5604	MAP2K1	HP:0012719	Functional abnormality of the gastrointestinal tract
5604	MAP2K1	HP:0004422	Biparietal narrowing
5604	MAP2K1	HP:0003196	Short nose
5604	MAP2K1	HP:0000917	Superior pectus carinatum
5604	MAP2K1	HP:0000914	Shield chest
5604	MAP2K1	HP:0000915	Pectus excavatum of inferior sternum
5604	MAP2K1	HP:0040071	Abnormal morphology of ulna
5604	MAP2K1	HP:0003251	Male infertility
5604	MAP2K1	HP:0010310	Chylothorax
5604	MAP2K1	HP:0000975	Hyperhidrosis
5604	MAP2K1	HP:0000978	Bruising susceptibility
5604	MAP2K1	HP:0000974	Hyperextensible skin
5604	MAP2K1	HP:0000982	Palmoplantar keratoderma
5604	MAP2K1	HP:0000958	Dry skin
5604	MAP2K1	HP:0000957	Cafe-au-lait spot
5604	MAP2K1	HP:0000962	Hyperkeratosis
5604	MAP2K1	HP:0008070	Sparse hair
5604	MAP2K1	HP:0008064	Ichthyosis
5604	MAP2K1	HP:0000286	Epicanthus
5604	MAP2K1	HP:0000280	Coarse facial features
5604	MAP2K1	HP:0000293	Full cheeks
5604	MAP2K1	HP:0000256	Macrocephaly
5604	MAP2K1	HP:0000276	Long face
5604	MAP2K1	HP:0030084	Clinodactyly
5604	MAP2K1	HP:0000238	Hydrocephalus
5604	MAP2K1	HP:0001582	Redundant skin
5604	MAP2K1	HP:0012209	Juvenile myelomonocytic leukemia
5604	MAP2K1	HP:0000218	High palate
5604	MAP2K1	HP:0001531	Failure to thrive in infancy
5604	MAP2K1	HP:0002857	Genu valgum
5604	MAP2K1	HP:0001508	Failure to thrive
5604	MAP2K1	HP:0000391	Thickened helices
5604	MAP2K1	HP:0000365	Hearing impairment
5604	MAP2K1	HP:0011024	Abnormality of the gastrointestinal tract
5604	MAP2K1	HP:0000369	Low-set ears
5604	MAP2K1	HP:0000368	Low-set, posteriorly rotated ears
5604	MAP2K1	HP:0000343	Long philtrum
5604	MAP2K1	HP:0011001	Increased bone mineral density
5604	MAP2K1	HP:0000337	Broad forehead
5604	MAP2K1	HP:0001680	Coarctation of aorta
5604	MAP2K1	HP:0000348	High forehead
5604	MAP2K1	HP:0000347	Micrognathia
5604	MAP2K1	HP:0000316	Hypertelorism
5604	MAP2K1	HP:0001643	Patent ductus arteriosus
5604	MAP2K1	HP:0001642	Pulmonic stenosis
5604	MAP2K1	HP:0001654	Abnormal heart valve morphology
5604	MAP2K1	HP:0000325	Triangular face
5604	MAP2K1	HP:0001629	Ventricular septal defect
5604	MAP2K1	HP:0001622	Premature birth
5604	MAP2K1	HP:0001639	Hypertrophic cardiomyopathy
5604	MAP2K1	HP:0002967	Cubitus valgus
5604	MAP2K1	HP:0001631	Atrial septal defect
5604	MAP2K1	HP:0006610	Wide intermamillary distance
5604	MAP2K1	HP:0000499	Abnormal eyelash morphology
5604	MAP2K1	HP:0000407	Sensorineural hearing impairment
5604	MAP2K1	HP:0000400	Macrotia
5604	MAP2K1	HP:0005280	Depressed nasal bridge
5604	MAP2K1	HP:0000486	Strabismus
5604	MAP2K1	HP:0000476	Cystic hygroma
5604	MAP2K1	HP:0000478	Abnormality of the eye
5604	MAP2K1	HP:0000494	Downslanted palpebral fissures
5604	MAP2K1	HP:0000463	Anteverted nares
5604	MAP2K1	HP:0000470	Short neck
5604	MAP2K1	HP:0000465	Webbed neck
5604	MAP2K1	HP:0000508	Ptosis
5604	MAP2K1	HP:0000504	Abnormality of vision
5604	MAP2K1	HP:0001892	Abnormal bleeding
5604	MAP2K1	HP:0000545	Myopia
5605	MAP2K2	HP:0009891	Underdeveloped supraorbital ridges
5605	MAP2K2	HP:0001252	Hypotonia
5605	MAP2K2	HP:0001249	Intellectual disability
5605	MAP2K2	HP:0001260	Dysarthria
5605	MAP2K2	HP:0001263	Global developmental delay
5605	MAP2K2	HP:0007440	Generalized hyperpigmentation
5605	MAP2K2	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5605	MAP2K2	HP:0007392	Excessive wrinkled skin
5605	MAP2K2	HP:0001388	Joint laxity
5605	MAP2K2	HP:0000028	Cryptorchidism
5605	MAP2K2	HP:0007565	Multiple cafe-au-lait spots
5605	MAP2K2	HP:0008872	Feeding difficulties in infancy
5605	MAP2K2	HP:0006191	Deep palmar crease
5605	MAP2K2	HP:0033725	Thin corpus callosum
5605	MAP2K2	HP:0001328	Specific learning disability
5605	MAP2K2	HP:0000006	Autosomal dominant inheritance
5605	MAP2K2	HP:0002650	Scoliosis
5605	MAP2K2	HP:0001321	Cerebellar hypoplasia
5605	MAP2K2	HP:0000176	Submucous cleft hard palate
5605	MAP2K2	HP:0000126	Hydronephrosis
5605	MAP2K2	HP:0002015	Dysphagia
5605	MAP2K2	HP:0002007	Frontal bossing
5605	MAP2K2	HP:0002046	Heat intolerance
5605	MAP2K2	HP:0002120	Cerebral cortical atrophy
5605	MAP2K2	HP:0002167	Abnormality of speech or vocalization
5605	MAP2K2	HP:0002162	Low posterior hairline
5605	MAP2K2	HP:0003593	Infantile onset
5605	MAP2K2	HP:0002223	Absent eyebrow
5605	MAP2K2	HP:0200102	Sparse or absent eyelashes
5605	MAP2K2	HP:0002217	Slow-growing hair
5605	MAP2K2	HP:0002212	Curly hair
5605	MAP2K2	HP:0002213	Fine hair
5605	MAP2K2	HP:0100763	Abnormality of the lymphatic system
5605	MAP2K2	HP:0002299	Brittle hair
5605	MAP2K2	HP:0002293	Alopecia of scalp
5605	MAP2K2	HP:0010669	Hypoplasia of the zygomatic bone
5605	MAP2K2	HP:0008391	Dystrophic fingernails
5605	MAP2K2	HP:0001048	Cavernous hemangioma
5605	MAP2K2	HP:0001028	Hemangioma
5605	MAP2K2	HP:0001004	Lymphedema
5605	MAP2K2	HP:0002353	EEG abnormality
5605	MAP2K2	HP:0001003	Multiple lentigines
5605	MAP2K2	HP:0032152	Keratosis pilaris
5605	MAP2K2	HP:0000639	Nystagmus
5605	MAP2K2	HP:0000637	Long palpebral fissure
5605	MAP2K2	HP:0000648	Optic atrophy
5605	MAP2K2	HP:0000609	Optic nerve hypoplasia
5605	MAP2K2	HP:0009023	Abdominal wall muscle weakness
5605	MAP2K2	HP:0000653	Sparse eyelashes
5605	MAP2K2	HP:0004322	Short stature
5605	MAP2K2	HP:0030680	Abnormality of cardiovascular system morphology
5605	MAP2K2	HP:0003010	Prolonged bleeding time
5605	MAP2K2	HP:0000767	Pectus excavatum
5605	MAP2K2	HP:0000765	Abnormal thorax morphology
5605	MAP2K2	HP:0012719	Functional abnormality of the gastrointestinal tract
5605	MAP2K2	HP:0011463	Childhood onset
5605	MAP2K2	HP:0004422	Biparietal narrowing
5605	MAP2K2	HP:0003196	Short nose
5605	MAP2K2	HP:0000824	Decreased response to growth hormone stimulation test
5605	MAP2K2	HP:0040071	Abnormal morphology of ulna
5605	MAP2K2	HP:0000975	Hyperhidrosis
5605	MAP2K2	HP:0000972	Palmoplantar hyperkeratosis
5605	MAP2K2	HP:0000974	Hyperextensible skin
5605	MAP2K2	HP:0000982	Palmoplantar keratoderma
5605	MAP2K2	HP:0000958	Dry skin
5605	MAP2K2	HP:0000957	Cafe-au-lait spot
5605	MAP2K2	HP:0000962	Hyperkeratosis
5605	MAP2K2	HP:0008070	Sparse hair
5605	MAP2K2	HP:0008064	Ichthyosis
5605	MAP2K2	HP:0000286	Epicanthus
5605	MAP2K2	HP:0000280	Coarse facial features
5605	MAP2K2	HP:0000293	Full cheeks
5605	MAP2K2	HP:0000256	Macrocephaly
5605	MAP2K2	HP:0000275	Narrow face
5605	MAP2K2	HP:0000276	Long face
5605	MAP2K2	HP:0000271	Abnormality of the face
5605	MAP2K2	HP:0005144	Ventricular septal hypertrophy
5605	MAP2K2	HP:0000238	Hydrocephalus
5605	MAP2K2	HP:0001582	Redundant skin
5605	MAP2K2	HP:0000218	High palate
5605	MAP2K2	HP:0001561	Polyhydramnios
5605	MAP2K2	HP:0001531	Failure to thrive in infancy
5605	MAP2K2	HP:0002857	Genu valgum
5605	MAP2K2	HP:0011039	Abnormal helix morphology
5605	MAP2K2	HP:0000391	Thickened helices
5605	MAP2K2	HP:0011024	Abnormality of the gastrointestinal tract
5605	MAP2K2	HP:0000368	Low-set, posteriorly rotated ears
5605	MAP2K2	HP:0000341	Narrow forehead
5605	MAP2K2	HP:0000343	Long philtrum
5605	MAP2K2	HP:0000336	Prominent supraorbital ridges
5605	MAP2K2	HP:0000348	High forehead
5605	MAP2K2	HP:0000316	Hypertelorism
5605	MAP2K2	HP:0001646	Abnormal aortic valve morphology
5605	MAP2K2	HP:0001642	Pulmonic stenosis
5605	MAP2K2	HP:0001654	Abnormal heart valve morphology
5605	MAP2K2	HP:0001622	Premature birth
5605	MAP2K2	HP:0001639	Hypertrophic cardiomyopathy
5605	MAP2K2	HP:0002967	Cubitus valgus
5605	MAP2K2	HP:0001631	Atrial septal defect
5605	MAP2K2	HP:0000499	Abnormal eyelash morphology
5605	MAP2K2	HP:0000400	Macrotia
5605	MAP2K2	HP:0005280	Depressed nasal bridge
5605	MAP2K2	HP:0000486	Strabismus
5605	MAP2K2	HP:0000478	Abnormality of the eye
5605	MAP2K2	HP:0000494	Downslanted palpebral fissures
5605	MAP2K2	HP:0000463	Anteverted nares
5605	MAP2K2	HP:0000470	Short neck
5605	MAP2K2	HP:0000465	Webbed neck
5605	MAP2K2	HP:0000518	Cataract
5605	MAP2K2	HP:0000506	Telecanthus
5605	MAP2K2	HP:0000508	Ptosis
5605	MAP2K2	HP:0000504	Abnormality of vision
5605	MAP2K2	HP:0000545	Myopia
5610	EIF2AK2	HP:0002451	Limb dystonia
5610	EIF2AK2	HP:0001276	Hypertonia
5610	EIF2AK2	HP:0002599	Head titubation
5610	EIF2AK2	HP:0001288	Gait disturbance
5610	EIF2AK2	HP:0001250	Seizure
5610	EIF2AK2	HP:0001252	Hypotonia
5610	EIF2AK2	HP:0001249	Intellectual disability
5610	EIF2AK2	HP:0002578	Gastroparesis
5610	EIF2AK2	HP:0001266	Choreoathetosis
5610	EIF2AK2	HP:0001260	Dysarthria
5610	EIF2AK2	HP:0001263	Global developmental delay
5610	EIF2AK2	HP:0001257	Spasticity
5610	EIF2AK2	HP:0002540	Inability to walk
5610	EIF2AK2	HP:0002530	Axial dystonia
5610	EIF2AK2	HP:0000020	Urinary incontinence
5610	EIF2AK2	HP:0001332	Dystonia
5610	EIF2AK2	HP:0001344	Absent speech
5610	EIF2AK2	HP:0001337	Tremor
5610	EIF2AK2	HP:0000006	Autosomal dominant inheritance
5610	EIF2AK2	HP:0001336	Myoclonus
5610	EIF2AK2	HP:0001300	Parkinsonism
5610	EIF2AK2	HP:0002607	Bowel incontinence
5610	EIF2AK2	HP:0008936	Axial hypotonia
5610	EIF2AK2	HP:0002067	Bradykinesia
5610	EIF2AK2	HP:0002066	Gait ataxia
5610	EIF2AK2	HP:0002063	Rigidity
5610	EIF2AK2	HP:0002078	Truncal ataxia
5610	EIF2AK2	HP:0002079	Hypoplasia of the corpus callosum
5610	EIF2AK2	HP:0002059	Cerebral atrophy
5610	EIF2AK2	HP:0003487	Babinski sign
5610	EIF2AK2	HP:0002126	Polymicrogyria
5610	EIF2AK2	HP:0002188	Delayed CNS myelination
5610	EIF2AK2	HP:0003593	Infantile onset
5610	EIF2AK2	HP:0003621	Juvenile onset
5610	EIF2AK2	HP:0003011	Abnormality of the musculature
5610	EIF2AK2	HP:0100022	Abnormality of movement
5610	EIF2AK2	HP:0011463	Childhood onset
5610	EIF2AK2	HP:0100248	Hemiballismus
5610	EIF2AK2	HP:0000298	Mask-like facies
5610	EIF2AK2	HP:0000252	Microcephaly
5610	EIF2AK2	HP:0032807	Neonatal seizure
5610	EIF2AK2	HP:0001608	Abnormality of the voice
5610	EIF2AK2	HP:0001761	Pes cavus
5610	EIF2AK2	HP:0025708	Early young adult onset
5610	EIF2AK2	HP:0000511	Vertical supranuclear gaze palsy
5611	DNAJC3	HP:0008619	Bilateral sensorineural hearing impairment
5611	DNAJC3	HP:0010871	Sensory ataxia
5611	DNAJC3	HP:0001272	Cerebellar atrophy
5611	DNAJC3	HP:0001256	Intellectual disability, mild
5611	DNAJC3	HP:0007366	Atrophy/Degeneration affecting the brainstem
5611	DNAJC3	HP:0002522	Areflexia of lower limbs
5611	DNAJC3	HP:0000007	Autosomal recessive inheritance
5611	DNAJC3	HP:0100543	Cognitive impairment
5611	DNAJC3	HP:0002066	Gait ataxia
5611	DNAJC3	HP:0002059	Cerebral atrophy
5611	DNAJC3	HP:0003487	Babinski sign
5611	DNAJC3	HP:0003448	Decreased sensory nerve conduction velocity
5611	DNAJC3	HP:0003431	Decreased motor nerve conduction velocity
5611	DNAJC3	HP:0100651	Type I diabetes mellitus
5611	DNAJC3	HP:0009830	Peripheral neuropathy
5611	DNAJC3	HP:0007141	Sensorimotor neuropathy
5611	DNAJC3	HP:0007108	Demyelinating peripheral neuropathy
5611	DNAJC3	HP:0003621	Juvenile onset
5611	DNAJC3	HP:0006827	Atrophy of the spinal cord
5611	DNAJC3	HP:0034063	Anti-islet antigen-2 antibody positivity
5611	DNAJC3	HP:0004325	Decreased body weight
5611	DNAJC3	HP:0004322	Short stature
5611	DNAJC3	HP:0011463	Childhood onset
5611	DNAJC3	HP:0000819	Diabetes mellitus
5611	DNAJC3	HP:0040217	Elevated hemoglobin A1c
5611	DNAJC3	HP:0000407	Sensorineural hearing impairment
5611	DNAJC3	HP:0025708	Early young adult onset
5618	PRLR	HP:0100829	Galactorrhea
5618	PRLR	HP:0000007	Autosomal recessive inheritance
5618	PRLR	HP:0000006	Autosomal dominant inheritance
5618	PRLR	HP:0031109	Agalactia
5618	PRLR	HP:0000141	Amenorrhea
5618	PRLR	HP:0000132	Menorrhagia
5618	PRLR	HP:0000134	Female hypogonadism
5618	PRLR	HP:0008222	Female infertility
5618	PRLR	HP:0010619	Fibroadenoma of the breast
5618	PRLR	HP:0011462	Young adult onset
5618	PRLR	HP:0000789	Infertility
5618	PRLR	HP:0000876	Oligomenorrhea
5618	PRLR	HP:0000870	Increased circulating prolactin concentration
5618	PRLR	HP:0012886	Hemorrhagic ovarian cyst
5618	PRLR	HP:0000939	Osteoporosis
5618	PRLR	HP:0000938	Osteopenia
5621	PRNP	HP:0002464	Spastic dysarthria
5621	PRNP	HP:0002457	Abnormal head movements
5621	PRNP	HP:0002446	Astrocytosis
5621	PRNP	HP:0025152	Poor visual behavior for age
5621	PRNP	HP:0007256	Abnormal pyramidal sign
5621	PRNP	HP:0002401	Stroke-like episode
5621	PRNP	HP:0001298	Encephalopathy
5621	PRNP	HP:0001290	Generalized hypotonia
5621	PRNP	HP:0001272	Cerebellar atrophy
5621	PRNP	HP:0001269	Hemiparesis
5621	PRNP	HP:0001268	Mental deterioration
5621	PRNP	HP:0001289	Confusion
5621	PRNP	HP:0001288	Gait disturbance
5621	PRNP	HP:0001284	Areflexia
5621	PRNP	HP:0001250	Seizure
5621	PRNP	HP:0001251	Ataxia
5621	PRNP	HP:0001260	Dysarthria
5621	PRNP	HP:0001257	Spasticity
5621	PRNP	HP:0410263	Brain imaging abnormality
5621	PRNP	HP:0007340	Lower limb muscle weakness
5621	PRNP	HP:0002533	Abnormal posturing
5621	PRNP	HP:0002549	Deficit in phonologic short-term memory
5621	PRNP	HP:0002529	Neuronal loss in central nervous system
5621	PRNP	HP:0031006	Acroparesthesia
5621	PRNP	HP:0001350	Slurred speech
5621	PRNP	HP:0000016	Urinary retention
5621	PRNP	HP:0001347	Hyperreflexia
5621	PRNP	HP:0001328	Specific learning disability
5621	PRNP	HP:0001324	Muscle weakness
5621	PRNP	HP:0001337	Tremor
5621	PRNP	HP:0000006	Autosomal dominant inheritance
5621	PRNP	HP:0001336	Myoclonus
5621	PRNP	HP:0001310	Dysmetria
5621	PRNP	HP:0001317	Abnormal cerebellum morphology
5621	PRNP	HP:0001315	Reduced tendon reflexes
5621	PRNP	HP:0001300	Parkinsonism
5621	PRNP	HP:0007686	Abnormal pupillary function
5621	PRNP	HP:0002019	Constipation
5621	PRNP	HP:0002015	Dysphagia
5621	PRNP	HP:0100543	Cognitive impairment
5621	PRNP	HP:0002067	Bradykinesia
5621	PRNP	HP:0002066	Gait ataxia
5621	PRNP	HP:0002063	Rigidity
5621	PRNP	HP:0002062	Morphological abnormality of the pyramidal tract
5621	PRNP	HP:0002078	Truncal ataxia
5621	PRNP	HP:0002072	Chorea
5621	PRNP	HP:0002073	Progressive cerebellar ataxia
5621	PRNP	HP:0002070	Limb ataxia
5621	PRNP	HP:0002071	Abnormality of extrapyramidal motor function
5621	PRNP	HP:0011730	Abnormal central sensory function
5621	PRNP	HP:0040264	Jaw pain
5621	PRNP	HP:0003487	Babinski sign
5621	PRNP	HP:0002120	Cerebral cortical atrophy
5621	PRNP	HP:0002119	Ventriculomegaly
5621	PRNP	HP:0002134	Abnormal basal ganglia morphology
5621	PRNP	HP:0002104	Apnea
5621	PRNP	HP:0002186	Apraxia
5621	PRNP	HP:0002185	Neurofibrillary tangles
5621	PRNP	HP:0002171	Gliosis
5621	PRNP	HP:0010542	Vestibular nystagmus
5621	PRNP	HP:0003401	Paresthesia
5621	PRNP	HP:0003596	Middle age onset
5621	PRNP	HP:0003581	Adult onset
5621	PRNP	HP:0100785	Insomnia
5621	PRNP	HP:0100786	Hypersomnia
5621	PRNP	HP:0002283	Global brain atrophy
5621	PRNP	HP:0100754	Mania
5621	PRNP	HP:0007010	Poor fine motor coordination
5621	PRNP	HP:0007017	Progressive forgetfulness
5621	PRNP	HP:0007018	Attention deficit hyperactivity disorder
5621	PRNP	HP:0007009	Central nervous system degeneration
5621	PRNP	HP:0007076	Extrapyramidal muscular rigidity
5621	PRNP	HP:0002381	Aphasia
5621	PRNP	HP:0002360	Sleep disturbance
5621	PRNP	HP:0002359	Frequent falls
5621	PRNP	HP:0002375	Hypokinesia
5621	PRNP	HP:0002353	EEG abnormality
5621	PRNP	HP:0002354	Memory impairment
5621	PRNP	HP:0003678	Rapidly progressive
5621	PRNP	HP:0002317	Unsteady gait
5621	PRNP	HP:0010846	EEG with persistent abnormal rhythmic activity
5621	PRNP	HP:0100661	Trigeminal neuralgia
5621	PRNP	HP:0007158	Progressive extrapyramidal muscular rigidity
5621	PRNP	HP:0002311	Incoordination
5621	PRNP	HP:0002312	Clumsiness
5621	PRNP	HP:0007183	Focal T2 hyperintense basal ganglia lesion
5621	PRNP	HP:0006801	Hyperactive deep tendon reflexes
5621	PRNP	HP:0000639	Nystagmus
5621	PRNP	HP:0000651	Diplopia
5621	PRNP	HP:0000617	Abnormality of ocular smooth pursuit
5621	PRNP	HP:0001945	Fever
5621	PRNP	HP:0000605	Supranuclear gaze palsy
5621	PRNP	HP:0012672	Akinetic mutism
5621	PRNP	HP:0006961	Jerky head movements
5621	PRNP	HP:0004305	Involuntary movements
5621	PRNP	HP:0006943	Diffuse spongiform leukoencephalopathy
5621	PRNP	HP:0003043	Abnormal shoulder morphology
5621	PRNP	HP:0006999	Basal ganglia gliosis
5621	PRNP	HP:0000751	Personality changes
5621	PRNP	HP:0000738	Hallucinations
5621	PRNP	HP:0000737	Irritability
5621	PRNP	HP:0000739	Anxiety
5621	PRNP	HP:0000736	Short attention span
5621	PRNP	HP:0000750	Delayed speech and language development
5621	PRNP	HP:0000746	Delusions
5621	PRNP	HP:0000741	Apathy
5621	PRNP	HP:0000716	Depression
5621	PRNP	HP:0000718	Aggressive behavior
5621	PRNP	HP:0000712	Emotional lability
5621	PRNP	HP:0000711	Restlessness
5621	PRNP	HP:0000710	Hyperorality
5621	PRNP	HP:0000726	Dementia
5621	PRNP	HP:0000709	Psychosis
5621	PRNP	HP:0000708	Atypical behavior
5621	PRNP	HP:0011458	Abdominal symptom
5621	PRNP	HP:0011462	Young adult onset
5621	PRNP	HP:0011446	Abnormality of higher mental function
5621	PRNP	HP:0040201	Simultanapraxia
5621	PRNP	HP:0045084	Limb myoclonus
5621	PRNP	HP:0100256	Senile plaques
5621	PRNP	HP:0008003	Jerky ocular pursuit movements
5621	PRNP	HP:0000975	Hyperhidrosis
5621	PRNP	HP:0100292	Amyloidosis of peripheral nerves
5621	PRNP	HP:0000298	Mask-like facies
5621	PRNP	HP:0007772	Impaired smooth pursuit
5621	PRNP	HP:0011099	Spastic hemiparesis
5621	PRNP	HP:0002922	Increased CSF protein concentration
5621	PRNP	HP:0012332	Abnormal autonomic nervous system physiology
5621	PRNP	HP:0005327	Loss of facial expression
5621	PRNP	HP:0000496	Abnormality of eye movement
5621	PRNP	HP:0030223	Manifestations of perseverative thought or action
5621	PRNP	HP:0025710	Late young adult onset
5621	PRNP	HP:0006790	Cerebral cortex with spongiform changes
5621	PRNP	HP:0000514	Slow saccadic eye movements
5621	PRNP	HP:0001824	Weight loss
5621	PRNP	HP:0000505	Visual impairment
5621	PRNP	HP:0000504	Abnormality of vision
5621	PRNP	HP:0000570	Abnormal saccadic eye movements
5621	PRNP	HP:0012534	Dysesthesia
5624	PROC	HP:0001250	Seizure
5624	PROC	HP:0001263	Global developmental delay
5624	PROC	HP:0000007	Autosomal recessive inheritance
5624	PROC	HP:0000006	Autosomal dominant inheritance
5624	PROC	HP:0002638	Superficial thrombophlebitis
5624	PROC	HP:0002625	Deep venous thrombosis
5624	PROC	HP:0003593	Infantile onset
5624	PROC	HP:0002204	Pulmonary embolism
5624	PROC	HP:0100724	Hypercoagulability
5624	PROC	HP:0100758	Gangrene
5624	PROC	HP:0004850	Recurrent deep vein thrombosis
5624	PROC	HP:0001038	Warfarin-induced skin necrosis
5624	PROC	HP:0001000	Abnormality of skin pigmentation
5624	PROC	HP:0100659	Abnormal cerebral vascular morphology
5624	PROC	HP:0003623	Neonatal onset
5624	PROC	HP:0004936	Venous thrombosis
5624	PROC	HP:0003621	Juvenile onset
5624	PROC	HP:0005543	Reduced protein C activity
5624	PROC	HP:0100021	Cerebral palsy
5624	PROC	HP:0000707	Abnormality of the nervous system
5624	PROC	HP:0000979	Purpura
5624	PROC	HP:0000963	Thin skin
5624	PROC	HP:0008065	Aplasia/Hypoplasia of the skin
5624	PROC	HP:0007902	Vitreous hemorrhage
5624	PROC	HP:0005305	Cerebral venous thrombosis
5624	PROC	HP:0005293	Venous insufficiency
5624	PROC	HP:0000478	Abnormality of the eye
5625	PRODH	HP:0001290	Generalized hypotonia
5625	PRODH	HP:0001250	Seizure
5625	PRODH	HP:0001252	Hypotonia
5625	PRODH	HP:0001251	Ataxia
5625	PRODH	HP:0001249	Intellectual disability
5625	PRODH	HP:0001263	Global developmental delay
5625	PRODH	HP:0000093	Proteinuria
5625	PRODH	HP:0000007	Autosomal recessive inheritance
5625	PRODH	HP:0000006	Autosomal dominant inheritance
5625	PRODH	HP:0000112	Nephropathy
5625	PRODH	HP:0002133	Status epilepticus
5625	PRODH	HP:0100753	Schizophrenia
5625	PRODH	HP:0008358	Hyperprolinemia
5625	PRODH	HP:0002353	EEG abnormality
5625	PRODH	HP:0003080	Hydroxyprolinuria
5625	PRODH	HP:0000752	Hyperactivity
5625	PRODH	HP:0000750	Delayed speech and language development
5625	PRODH	HP:0000718	Aggressive behavior
5625	PRODH	HP:0000729	Autistic behavior
5625	PRODH	HP:0003108	Hyperglycinuria
5625	PRODH	HP:0003137	Prolinuria
5626	PROP1	HP:0001161	Hand polydactyly
5626	PROP1	HP:0009888	Abnormality of secondary sexual hair
5626	PROP1	HP:0001274	Agenesis of corpus callosum
5626	PROP1	HP:0001254	Lethargy
5626	PROP1	HP:0001250	Seizure
5626	PROP1	HP:0001252	Hypotonia
5626	PROP1	HP:0001265	Hyporeflexia
5626	PROP1	HP:0100842	Septo-optic dysplasia
5626	PROP1	HP:0008734	Decreased testicular size
5626	PROP1	HP:0031098	Decreased thyroid-stimulating hormone level
5626	PROP1	HP:0000044	Hypogonadotropic hypogonadism
5626	PROP1	HP:0001360	Holoprosencephaly
5626	PROP1	HP:0008872	Feeding difficulties in infancy
5626	PROP1	HP:0008828	Delayed proximal femoral epiphyseal ossification
5626	PROP1	HP:0001331	Absent septum pellucidum
5626	PROP1	HP:0000007	Autosomal recessive inheritance
5626	PROP1	HP:0001317	Abnormal cerebellum morphology
5626	PROP1	HP:0002615	Hypotension
5626	PROP1	HP:0025483	Abnormal circulating thyroglobulin level
5626	PROP1	HP:0000158	Macroglossia
5626	PROP1	HP:0000141	Amenorrhea
5626	PROP1	HP:0000135	Hypogonadism
5626	PROP1	HP:0031218	Inappropriate antidiuretic hormone secretion
5626	PROP1	HP:0031219	Reduced radioactive iodine uptake
5626	PROP1	HP:0002750	Delayed skeletal maturation
5626	PROP1	HP:0002019	Constipation
5626	PROP1	HP:0005990	Thyroid hypoplasia
5626	PROP1	HP:0004637	Decreased cervical spine mobility
5626	PROP1	HP:0011800	Midface retrusion
5626	PROP1	HP:0002045	Hypothermia
5626	PROP1	HP:0010442	Polydactyly
5626	PROP1	HP:0011755	Ectopic posterior pituitary
5626	PROP1	HP:0005930	Abnormal epiphysis morphology
5626	PROP1	HP:0008187	Absence of secondary sex characteristics
5626	PROP1	HP:0002173	Hypoglycemic seizures
5626	PROP1	HP:0008245	Pituitary hypothyroidism
5626	PROP1	HP:0008202	Reduced circulating prolactin concentration
5626	PROP1	HP:0010627	Anterior pituitary hypoplasia
5626	PROP1	HP:0010626	Anterior pituitary agenesis
5626	PROP1	HP:0008501	Median cleft lip and palate
5626	PROP1	HP:0001943	Hypoglycemia
5626	PROP1	HP:0000609	Optic nerve hypoplasia
5626	PROP1	HP:0011344	Severe global developmental delay
5626	PROP1	HP:0001999	Abnormal facial shape
5626	PROP1	HP:0001998	Neonatal hypoglycemia
5626	PROP1	HP:0004322	Short stature
5626	PROP1	HP:0005625	Osteoporosis of vertebrae
5626	PROP1	HP:0012731	Ectopic anterior pituitary gland
5626	PROP1	HP:0011437	Maternal autoimmune disease
5626	PROP1	HP:0012758	Neurodevelopmental delay
5626	PROP1	HP:0000789	Infertility
5626	PROP1	HP:0004491	Large posterior fontanelle
5626	PROP1	HP:0000871	Panhypopituitarism
5626	PROP1	HP:0000839	Pituitary dwarfism
5626	PROP1	HP:0000846	Adrenal insufficiency
5626	PROP1	HP:0000821	Hypothyroidism
5626	PROP1	HP:0000824	Decreased response to growth hormone stimulation test
5626	PROP1	HP:0000823	Delayed puberty
5626	PROP1	HP:0040075	Hypopituitarism
5626	PROP1	HP:0040086	Abnormal prolactin level
5626	PROP1	HP:0010311	Aplasia/Hypoplasia of the breasts
5626	PROP1	HP:0034323	Reduced circulating growth hormone concentration
5626	PROP1	HP:0000938	Osteopenia
5626	PROP1	HP:0009381	Short finger
5626	PROP1	HP:0000282	Facial edema
5626	PROP1	HP:0000270	Delayed cranial suture closure
5626	PROP1	HP:0025502	Overweight
5626	PROP1	HP:0001537	Umbilical hernia
5626	PROP1	HP:0001510	Growth delay
5626	PROP1	HP:0031507	Decreased circulating T4 concentration
5626	PROP1	HP:0012378	Fatigue
5626	PROP1	HP:0011043	Abnormal circulating adrenocorticotropin concentration
5626	PROP1	HP:0006579	Prolonged neonatal jaundice
5626	PROP1	HP:0002920	Decreased circulating ACTH level
5626	PROP1	HP:0001662	Bradycardia
5626	PROP1	HP:0000407	Sensorineural hearing impairment
5626	PROP1	HP:0005280	Depressed nasal bridge
5626	PROP1	HP:0000478	Abnormality of the eye
5626	PROP1	HP:0000457	Depressed nasal ridge
5626	PROP1	HP:0000470	Short neck
5626	PROP1	HP:0011297	Abnormal digit morphology
5626	PROP1	HP:0030344	Decreased circulating luteinizing hormone level
5626	PROP1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
5626	PROP1	HP:0011220	Prominent forehead
5627	PROS1	HP:0001342	Cerebral hemorrhage
5627	PROS1	HP:0000007	Autosomal recessive inheritance
5627	PROS1	HP:0000006	Autosomal dominant inheritance
5627	PROS1	HP:0002638	Superficial thrombophlebitis
5627	PROS1	HP:0002625	Deep venous thrombosis
5627	PROS1	HP:0004855	Reduced protein S activity
5627	PROS1	HP:0002204	Pulmonary embolism
5627	PROS1	HP:0100724	Hypercoagulability
5627	PROS1	HP:0100758	Gangrene
5627	PROS1	HP:0001038	Warfarin-induced skin necrosis
5627	PROS1	HP:0001000	Abnormality of skin pigmentation
5627	PROS1	HP:0100659	Abnormal cerebral vascular morphology
5627	PROS1	HP:0200042	Skin ulcer
5627	PROS1	HP:0005521	Disseminated intravascular coagulation
5627	PROS1	HP:0000618	Blindness
5627	PROS1	HP:0001933	Subcutaneous hemorrhage
5627	PROS1	HP:0004420	Arterial thrombosis
5627	PROS1	HP:0004418	Thrombophlebitis
5627	PROS1	HP:0000979	Purpura
5627	PROS1	HP:0000963	Thin skin
5627	PROS1	HP:0008065	Aplasia/Hypoplasia of the skin
5627	PROS1	HP:0005305	Cerebral venous thrombosis
5627	PROS1	HP:0005293	Venous insufficiency
5627	PROS1	HP:0000488	Retinopathy
5630	PRPH	HP:0001260	Dysarthria
5630	PRPH	HP:0001257	Spasticity
5630	PRPH	HP:0007373	Motor neuron atrophy
5630	PRPH	HP:0007354	Amyotrophic lateral sclerosis
5630	PRPH	HP:0001347	Hyperreflexia
5630	PRPH	HP:0001324	Muscle weakness
5630	PRPH	HP:0000007	Autosomal recessive inheritance
5630	PRPH	HP:0000006	Autosomal dominant inheritance
5630	PRPH	HP:0025425	Laryngospasm
5630	PRPH	HP:0002795	Abnormal respiratory system physiology
5630	PRPH	HP:0002017	Nausea and vomiting
5630	PRPH	HP:0002015	Dysphagia
5630	PRPH	HP:0003324	Generalized muscle weakness
5630	PRPH	HP:0002094	Dyspnea
5630	PRPH	HP:0003394	Muscle spasm
5630	PRPH	HP:0003470	Paralysis
5630	PRPH	HP:0002180	Neurodegeneration
5630	PRPH	HP:0010535	Sleep apnea
5630	PRPH	HP:0003581	Adult onset
5630	PRPH	HP:0007024	Pseudobulbar paralysis
5630	PRPH	HP:0002380	Fasciculations
5630	PRPH	HP:0002398	Degeneration of anterior horn cells
5630	PRPH	HP:0002314	Degeneration of the lateral corticospinal tracts
5630	PRPH	HP:0000739	Anxiety
5630	PRPH	HP:0000716	Depression
5630	PRPH	HP:0000712	Emotional lability
5630	PRPH	HP:0000713	Agitation
5630	PRPH	HP:0003202	Skeletal muscle atrophy
5630	PRPH	HP:0000217	Xerostomia
5630	PRPH	HP:0002878	Respiratory failure
5630	PRPH	HP:0012378	Fatigue
5630	PRPH	HP:0030196	Fatigable weakness of respiratory muscles
5630	PRPH	HP:0030195	Fatigable weakness of swallowing muscles
5630	PRPH	HP:0030192	Fatigable weakness of bulbar muscles
5630	PRPH	HP:0012531	Pain
5631	PRPS1	HP:0002463	Language impairment
5631	PRPS1	HP:0002460	Distal muscle weakness
5631	PRPS1	HP:0002445	Tetraplegia
5631	PRPS1	HP:0001116	Macular coloboma
5631	PRPS1	HP:0007328	Impaired pain sensation
5631	PRPS1	HP:0007258	Severe demyelination of the white matter
5631	PRPS1	HP:0003712	Skeletal muscle hypertrophy
5631	PRPS1	HP:0001271	Polyneuropathy
5631	PRPS1	HP:0001270	Motor delay
5631	PRPS1	HP:0001288	Gait disturbance
5631	PRPS1	HP:0001285	Spastic tetraparesis
5631	PRPS1	HP:0001284	Areflexia
5631	PRPS1	HP:0001256	Intellectual disability, mild
5631	PRPS1	HP:0001250	Seizure
5631	PRPS1	HP:0001252	Hypotonia
5631	PRPS1	HP:0001251	Ataxia
5631	PRPS1	HP:0001249	Intellectual disability
5631	PRPS1	HP:0001260	Dysarthria
5631	PRPS1	HP:0001263	Global developmental delay
5631	PRPS1	HP:0001262	Excessive daytime somnolence
5631	PRPS1	HP:0007377	Abnormality of somatosensory evoked potentials
5631	PRPS1	HP:0002522	Areflexia of lower limbs
5631	PRPS1	HP:0003828	Variable expressivity
5631	PRPS1	HP:0002509	Limb hypertonia
5631	PRPS1	HP:0003819	Death in childhood
5631	PRPS1	HP:0000083	Renal insufficiency
5631	PRPS1	HP:0001369	Arthritis
5631	PRPS1	HP:0000047	Hypospadias
5631	PRPS1	HP:0001347	Hyperreflexia
5631	PRPS1	HP:0000028	Cryptorchidism
5631	PRPS1	HP:0001324	Muscle weakness
5631	PRPS1	HP:0001344	Absent speech
5631	PRPS1	HP:0001337	Tremor
5631	PRPS1	HP:0002650	Scoliosis
5631	PRPS1	HP:0001319	Neonatal hypotonia
5631	PRPS1	HP:0032460	Decreased phosphoribosylpyrophosphate synthetase level
5631	PRPS1	HP:0000154	Wide mouth
5631	PRPS1	HP:0008936	Axial hypotonia
5631	PRPS1	HP:0002788	Recurrent upper respiratory tract infections
5631	PRPS1	HP:0001419	X-linked recessive inheritance
5631	PRPS1	HP:0002719	Recurrent infections
5631	PRPS1	HP:0002721	Immunodeficiency
5631	PRPS1	HP:0002015	Dysphagia
5631	PRPS1	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
5631	PRPS1	HP:0003323	Progressive muscle weakness
5631	PRPS1	HP:0030927	1-minute APGAR score of 0
5631	PRPS1	HP:0030921	5-minute APGAR score of 1
5631	PRPS1	HP:0002069	Bilateral tonic-clonic seizure
5631	PRPS1	HP:0002079	Hypoplasia of the corpus callosum
5631	PRPS1	HP:0003383	Onion bulb formation
5631	PRPS1	HP:0003477	Peripheral axonal neuropathy
5631	PRPS1	HP:0003487	Babinski sign
5631	PRPS1	HP:0003481	Segmental peripheral demyelination/remyelination
5631	PRPS1	HP:0002149	Hyperuricemia
5631	PRPS1	HP:0003431	Decreased motor nerve conduction velocity
5631	PRPS1	HP:0003444	EMG: chronic denervation signs
5631	PRPS1	HP:0011903	HbH hemoglobin
5631	PRPS1	HP:0002187	Intellectual disability, profound
5631	PRPS1	HP:0002169	Clonus
5631	PRPS1	HP:0010536	Central sleep apnea
5631	PRPS1	HP:0003577	Congenital onset
5631	PRPS1	HP:0004887	Respiratory failure requiring assisted ventilation
5631	PRPS1	HP:0002205	Recurrent respiratory infections
5631	PRPS1	HP:0003537	Hypouricemia
5631	PRPS1	HP:0008311	Spinal cord posterior columns myelin loss
5631	PRPS1	HP:0020074	Crystalluria
5631	PRPS1	HP:0002385	Paraparesis
5631	PRPS1	HP:0003693	Distal amyotrophy
5631	PRPS1	HP:0002342	Intellectual disability, moderate
5631	PRPS1	HP:0008527	Congenital sensorineural hearing impairment
5631	PRPS1	HP:0009830	Peripheral neuropathy
5631	PRPS1	HP:0032169	Severe infection
5631	PRPS1	HP:0002300	Mutism
5631	PRPS1	HP:0002307	Drooling
5631	PRPS1	HP:0007178	Motor polyneuropathy
5631	PRPS1	HP:0006801	Hyperactive deep tendon reflexes
5631	PRPS1	HP:0012626	Stage 4 chronic kidney disease
5631	PRPS1	HP:0000639	Nystagmus
5631	PRPS1	HP:0000648	Optic atrophy
5631	PRPS1	HP:0000618	Blindness
5631	PRPS1	HP:0000601	Hypotelorism
5631	PRPS1	HP:0001919	Acute kidney injury
5631	PRPS1	HP:0001999	Abnormal facial shape
5631	PRPS1	HP:0001997	Gout
5631	PRPS1	HP:0004322	Short stature
5631	PRPS1	HP:0012736	Profound global developmental delay
5631	PRPS1	HP:0000763	Sensory neuropathy
5631	PRPS1	HP:0000707	Abnormality of the nervous system
5631	PRPS1	HP:0011476	Profound sensorineural hearing impairment
5631	PRPS1	HP:0011471	Gastrostomy tube feeding in infancy
5631	PRPS1	HP:0011463	Childhood onset
5631	PRPS1	HP:0000791	Uric acid nephrolithiasis
5631	PRPS1	HP:0012759	Neurodevelopmental abnormality
5631	PRPS1	HP:0040129	Abnormal nerve conduction velocity
5631	PRPS1	HP:0003196	Short nose
5631	PRPS1	HP:0003149	Hyperuricosuria
5631	PRPS1	HP:0000873	Diabetes insipidus
5631	PRPS1	HP:0003240	Increased phosphoribosylpyrophosphate synthetase level
5631	PRPS1	HP:0034368	Urolithiasis
5631	PRPS1	HP:0008070	Sparse hair
5631	PRPS1	HP:0008058	Aplasia/Hypoplasia of the optic nerve
5631	PRPS1	HP:0000286	Epicanthus
5631	PRPS1	HP:0000268	Dolichocephaly
5631	PRPS1	HP:0002808	Kyphosis
5631	PRPS1	HP:0000218	High palate
5631	PRPS1	HP:0001525	Severe failure to thrive
5631	PRPS1	HP:0001522	Death in infancy
5631	PRPS1	HP:0001518	Small for gestational age
5631	PRPS1	HP:0001511	Intrauterine growth retardation
5631	PRPS1	HP:0001510	Growth delay
5631	PRPS1	HP:0012389	Appendicular hypotonia
5631	PRPS1	HP:0006579	Prolonged neonatal jaundice
5631	PRPS1	HP:0002936	Distal sensory impairment
5631	PRPS1	HP:0000365	Hearing impairment
5631	PRPS1	HP:0000369	Low-set ears
5631	PRPS1	HP:0000316	Hypertelorism
5631	PRPS1	HP:0000325	Triangular face
5631	PRPS1	HP:0007965	Undetectable visual evoked potentials
5631	PRPS1	HP:0011185	EEG with focal epileptiform discharges
5631	PRPS1	HP:0000407	Sensorineural hearing impairment
5631	PRPS1	HP:0005280	Depressed nasal bridge
5631	PRPS1	HP:0000486	Strabismus
5631	PRPS1	HP:0030211	Slow pupillary light response
5631	PRPS1	HP:0000478	Abnormality of the eye
5631	PRPS1	HP:0000494	Downslanted palpebral fissures
5631	PRPS1	HP:0000490	Deeply set eye
5631	PRPS1	HP:0012448	Delayed myelination
5631	PRPS1	HP:0000467	Neck muscle weakness
5631	PRPS1	HP:0030272	Abnormal erythrocyte enzyme level
5631	PRPS1	HP:0000444	Convex nasal ridge
5631	PRPS1	HP:0000430	Underdeveloped nasal alae
5631	PRPS1	HP:0001761	Pes cavus
5631	PRPS1	HP:0000510	Rod-cone dystrophy
5631	PRPS1	HP:0000529	Progressive visual loss
5631	PRPS1	HP:0000508	Ptosis
5631	PRPS1	HP:0000505	Visual impairment
5631	PRPS1	HP:0000501	Glaucoma
5631	PRPS1	HP:0000577	Exotropia
5631	PRPS1	HP:0011220	Prominent forehead
5631	PRPS1	HP:0000556	Retinal dystrophy
5631	PRPS1	HP:0000572	Visual loss
5631	PRPS1	HP:0000540	Hypermetropia
5631	PRPS1	HP:0000543	Optic disc pallor
5631	PRPS1	HP:0000545	Myopia
5644	PRSS1	HP:0002570	Steatorrhea
5644	PRSS1	HP:0000006	Autosomal dominant inheritance
5644	PRSS1	HP:0002027	Abdominal pain
5644	PRSS1	HP:0002202	Pleural effusion
5644	PRSS1	HP:0001977	Abnormal thrombosis
5644	PRSS1	HP:0001974	Leukocytosis
5644	PRSS1	HP:0001945	Fever
5644	PRSS1	HP:0100027	Recurrent pancreatitis
5644	PRSS1	HP:0000819	Diabetes mellitus
5644	PRSS1	HP:0000952	Jaundice
5644	PRSS1	HP:0012379	Abnormal circulating enzyme concentration or activity
5644	PRSS1	HP:0005213	Pancreatic calcification
5644	PRSS1	HP:0005206	Pancreatic pseudocyst
5644	PRSS1	HP:0001738	Exocrine pancreatic insufficiency
5644	PRSS1	HP:0001733	Pancreatitis
5644	PRSS1	HP:0030247	Splanchnic vein thrombosis
5644	PRSS1	HP:0011227	Elevated circulating C-reactive protein concentration
5645	PRSS2	HP:0002570	Steatorrhea
5645	PRSS2	HP:0000006	Autosomal dominant inheritance
5645	PRSS2	HP:0002027	Abdominal pain
5645	PRSS2	HP:0002202	Pleural effusion
5645	PRSS2	HP:0001977	Abnormal thrombosis
5645	PRSS2	HP:0001974	Leukocytosis
5645	PRSS2	HP:0001945	Fever
5645	PRSS2	HP:0100027	Recurrent pancreatitis
5645	PRSS2	HP:0000819	Diabetes mellitus
5645	PRSS2	HP:0000952	Jaundice
5645	PRSS2	HP:0012379	Abnormal circulating enzyme concentration or activity
5645	PRSS2	HP:0005213	Pancreatic calcification
5645	PRSS2	HP:0005206	Pancreatic pseudocyst
5645	PRSS2	HP:0001738	Exocrine pancreatic insufficiency
5645	PRSS2	HP:0001733	Pancreatitis
5645	PRSS2	HP:0030247	Splanchnic vein thrombosis
5645	PRSS2	HP:0011227	Elevated circulating C-reactive protein concentration
5648	MASP1	HP:0009891	Underdeveloped supraorbital ridges
5648	MASP1	HP:0001256	Intellectual disability, mild
5648	MASP1	HP:0001249	Intellectual disability
5648	MASP1	HP:0002558	Supernumerary nipple
5648	MASP1	HP:0008689	Bilateral cryptorchidism
5648	MASP1	HP:0002553	Highly arched eyebrow
5648	MASP1	HP:0002678	Skull asymmetry
5648	MASP1	HP:0001363	Craniosynostosis
5648	MASP1	HP:0008897	Postnatal growth retardation
5648	MASP1	HP:0006216	Single interphalangeal crease of fifth finger
5648	MASP1	HP:0000007	Autosomal recessive inheritance
5648	MASP1	HP:0002650	Scoliosis
5648	MASP1	HP:0000175	Cleft palate
5648	MASP1	HP:0410030	Cleft lip
5648	MASP1	HP:0000126	Hydronephrosis
5648	MASP1	HP:0002714	Downturned corners of mouth
5648	MASP1	HP:0003307	Hyperlordosis
5648	MASP1	HP:0002265	Large fleshy ears
5648	MASP1	HP:0004209	Clinodactyly of the 5th finger
5648	MASP1	HP:0004298	Abnormality of the abdominal wall
5648	MASP1	HP:0000678	Dental crowding
5648	MASP1	HP:0000664	Synophrys
5648	MASP1	HP:0004443	Lambdoidal craniosynostosis
5648	MASP1	HP:0004440	Coronal craniosynostosis
5648	MASP1	HP:0040016	Prominent coccyx
5648	MASP1	HP:0009237	Short 5th finger
5648	MASP1	HP:0003298	Spina bifida occulta
5648	MASP1	HP:0000960	Sacral dimple
5648	MASP1	HP:0000260	Wide anterior fontanel
5648	MASP1	HP:0005105	Abnormal nasal morphology
5648	MASP1	HP:0002827	Hip dislocation
5648	MASP1	HP:0002825	Caudal appendage
5648	MASP1	HP:0006394	Limited pronation/supination of forearm
5648	MASP1	HP:0000252	Microcephaly
5648	MASP1	HP:0001540	Diastasis recti
5648	MASP1	HP:0001537	Umbilical hernia
5648	MASP1	HP:0001539	Omphalocele
5648	MASP1	HP:0000202	Orofacial cleft
5648	MASP1	HP:0000204	Cleft upper lip
5648	MASP1	HP:0001510	Growth delay
5648	MASP1	HP:0000377	Abnormal pinna morphology
5648	MASP1	HP:0000365	Hearing impairment
5648	MASP1	HP:0000369	Low-set ears
5648	MASP1	HP:0000316	Hypertelorism
5648	MASP1	HP:0001643	Patent ductus arteriosus
5648	MASP1	HP:0002974	Radioulnar synostosis
5648	MASP1	HP:0001629	Ventricular septal defect
5648	MASP1	HP:0001631	Atrial septal defect
5648	MASP1	HP:0000405	Conductive hearing impairment
5648	MASP1	HP:0000494	Downslanted palpebral fissures
5648	MASP1	HP:0000496	Abnormality of eye movement
5648	MASP1	HP:0001773	Short foot
5648	MASP1	HP:0001769	Broad foot
5648	MASP1	HP:0000524	Conjunctival telangiectasia
5648	MASP1	HP:0000506	Telecanthus
5648	MASP1	HP:0000508	Ptosis
5648	MASP1	HP:0000501	Glaucoma
5648	MASP1	HP:0000581	Blepharophimosis
5648	MASP1	HP:0000593	Abnormal anterior chamber morphology
5648	MASP1	HP:0000537	Epicanthus inversus
5649	RELN	HP:0001181	Adducted thumb
5649	RELN	HP:0001272	Cerebellar atrophy
5649	RELN	HP:0001274	Agenesis of corpus callosum
5649	RELN	HP:0001250	Seizure
5649	RELN	HP:0001252	Hypotonia
5649	RELN	HP:0001249	Intellectual disability
5649	RELN	HP:0001263	Global developmental delay
5649	RELN	HP:0008765	Auditory hallucinations
5649	RELN	HP:0410263	Brain imaging abnormality
5649	RELN	HP:0007359	Focal-onset seizure
5649	RELN	HP:0007334	Bilateral tonic-clonic seizure with focal onset
5649	RELN	HP:0002514	Cerebral calcification
5649	RELN	HP:0003829	Typified by incomplete penetrance
5649	RELN	HP:0003808	Abnormal muscle tone
5649	RELN	HP:0002683	Abnormal calvaria morphology
5649	RELN	HP:0012005	Deja vu aura
5649	RELN	HP:0001339	Lissencephaly
5649	RELN	HP:0000007	Autosomal recessive inheritance
5649	RELN	HP:0000006	Autosomal dominant inheritance
5649	RELN	HP:0001321	Cerebellar hypoplasia
5649	RELN	HP:0006270	Hypoplastic spleen
5649	RELN	HP:0012110	Hypoplasia of the pons
5649	RELN	HP:0002015	Dysphagia
5649	RELN	HP:0002098	Respiratory distress
5649	RELN	HP:0002069	Bilateral tonic-clonic seizure
5649	RELN	HP:0002079	Hypoplasia of the corpus callosum
5649	RELN	HP:0002076	Migraine
5649	RELN	HP:0002197	Generalized-onset seizure
5649	RELN	HP:0003596	Middle age onset
5649	RELN	HP:0002266	Focal clonic seizure
5649	RELN	HP:0002269	Abnormality of neuronal migration
5649	RELN	HP:0100710	Impulsivity
5649	RELN	HP:0011968	Feeding difficulties
5649	RELN	HP:0002384	Focal impaired awareness seizure
5649	RELN	HP:0002381	Aphasia
5649	RELN	HP:0002367	Visual hallucinations
5649	RELN	HP:0001004	Lymphedema
5649	RELN	HP:0002349	Focal aware seizure
5649	RELN	HP:0003621	Juvenile onset
5649	RELN	HP:0006818	4-layered lissencephaly
5649	RELN	HP:0006891	Thick cerebral cortex
5649	RELN	HP:0011344	Severe global developmental delay
5649	RELN	HP:0001999	Abnormal facial shape
5649	RELN	HP:0031951	Nocturnal seizures
5649	RELN	HP:0012736	Profound global developmental delay
5649	RELN	HP:0000716	Depression
5649	RELN	HP:0000708	Atypical behavior
5649	RELN	HP:0011462	Young adult onset
5649	RELN	HP:0011451	Primary microcephaly
5649	RELN	HP:0045028	Microlissencephaly
5649	RELN	HP:0000268	Dolichocephaly
5649	RELN	HP:0000269	Prominent occiput
5649	RELN	HP:0000252	Microcephaly
5649	RELN	HP:0001511	Intrauterine growth retardation
5649	RELN	HP:0032810	Focal sensory seizure with cephalic sensation
5649	RELN	HP:0032864	Focal aware sensory seizure with auditory features
5649	RELN	HP:0032759	Focal sensory seizure with vestibular features
5649	RELN	HP:0000369	Low-set ears
5649	RELN	HP:0000341	Narrow forehead
5649	RELN	HP:0000340	Sloping forehead
5649	RELN	HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole
5649	RELN	HP:0012332	Abnormal autonomic nervous system physiology
5649	RELN	HP:0000350	Small forehead
5649	RELN	HP:0000316	Hypertelorism
5649	RELN	HP:0001655	Patent foramen ovale
5649	RELN	HP:0000308	Microretrognathia
5649	RELN	HP:0001631	Atrial septal defect
5649	RELN	HP:0011185	EEG with focal epileptiform discharges
5649	RELN	HP:0011182	Interictal epileptiform activity
5649	RELN	HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
5649	RELN	HP:0011158	Focal sensory seizure with auditory features
5649	RELN	HP:0011161	Focal sensory seizure with olfactory features
5649	RELN	HP:0011165	Focal sensory seizure with visual features
5649	RELN	HP:0011154	Focal autonomic seizure
5649	RELN	HP:0000479	Abnormal retinal morphology
5649	RELN	HP:0032898	Focal automatism seizure
5649	RELN	HP:0000445	Wide nose
5649	RELN	HP:0000431	Wide nasal bridge
5649	RELN	HP:0000426	Prominent nasal bridge
5649	RELN	HP:0001838	Rocker bottom foot
5651	TMPRSS15	HP:0000007	Autosomal recessive inheritance
5651	TMPRSS15	HP:0007609	Hypoproteinemic edema
5651	TMPRSS15	HP:0002014	Diarrhea
5651	TMPRSS15	HP:0003075	Hypoproteinemia
5651	TMPRSS15	HP:0001508	Failure to thrive
5654	HTRA1	HP:0002497	Spastic ataxia
5654	HTRA1	HP:0002448	Progressive encephalopathy
5654	HTRA1	HP:0007256	Abnormal pyramidal sign
5654	HTRA1	HP:0007236	Recurrent subcortical infarcts
5654	HTRA1	HP:0002401	Stroke-like episode
5654	HTRA1	HP:0001297	Stroke
5654	HTRA1	HP:0001269	Hemiparesis
5654	HTRA1	HP:0001268	Mental deterioration
5654	HTRA1	HP:0001288	Gait disturbance
5654	HTRA1	HP:0001250	Seizure
5654	HTRA1	HP:0001251	Ataxia
5654	HTRA1	HP:0001260	Dysarthria
5654	HTRA1	HP:0001257	Spasticity
5654	HTRA1	HP:0032325	Lacunar stroke
5654	HTRA1	HP:0002506	Diffuse cerebral atrophy
5654	HTRA1	HP:0000020	Urinary incontinence
5654	HTRA1	HP:0001347	Hyperreflexia
5654	HTRA1	HP:0000007	Autosomal recessive inheritance
5654	HTRA1	HP:0000006	Autosomal dominant inheritance
5654	HTRA1	HP:0001310	Dysmetria
5654	HTRA1	HP:0002634	Arteriosclerosis
5654	HTRA1	HP:0002607	Bowel incontinence
5654	HTRA1	HP:0002751	Kyphoscoliosis
5654	HTRA1	HP:0100546	Carotid artery stenosis
5654	HTRA1	HP:0100543	Cognitive impairment
5654	HTRA1	HP:0002069	Bilateral tonic-clonic seizure
5654	HTRA1	HP:0002063	Rigidity
5654	HTRA1	HP:0002071	Abnormality of extrapyramidal motor function
5654	HTRA1	HP:0003474	Somatic sensory dysfunction
5654	HTRA1	HP:0003487	Babinski sign
5654	HTRA1	HP:0003419	Low back pain
5654	HTRA1	HP:0003418	Back pain
5654	HTRA1	HP:0010521	Gait apraxia
5654	HTRA1	HP:0003596	Middle age onset
5654	HTRA1	HP:0003584	Late onset
5654	HTRA1	HP:0002200	Pseudobulbar signs
5654	HTRA1	HP:0002293	Alopecia of scalp
5654	HTRA1	HP:0007024	Pseudobulbar paralysis
5654	HTRA1	HP:0002381	Aphasia
5654	HTRA1	HP:0025012	Status cribrosum
5654	HTRA1	HP:0002352	Leukoencephalopathy
5654	HTRA1	HP:0002315	Headache
5654	HTRA1	HP:0003657	Granular osmiophilic deposits (GROD) in cells
5654	HTRA1	HP:0002326	Transient ischemic attack
5654	HTRA1	HP:0007204	Diffuse white matter abnormalities
5654	HTRA1	HP:0007162	Diffuse demyelination of the cerebral white matter
5654	HTRA1	HP:0008480	Cervical spondylosis
5654	HTRA1	HP:0004931	Arteriosclerosis of small cerebral arteries
5654	HTRA1	HP:0003621	Juvenile onset
5654	HTRA1	HP:0000639	Nystagmus
5654	HTRA1	HP:0012671	Abulia
5654	HTRA1	HP:0012672	Akinetic mutism
5654	HTRA1	HP:0000738	Hallucinations
5654	HTRA1	HP:0000737	Irritability
5654	HTRA1	HP:0000739	Anxiety
5654	HTRA1	HP:0000746	Delusions
5654	HTRA1	HP:0000741	Apathy
5654	HTRA1	HP:0000718	Aggressive behavior
5654	HTRA1	HP:0000712	Emotional lability
5654	HTRA1	HP:0000726	Dementia
5654	HTRA1	HP:0000708	Atypical behavior
5654	HTRA1	HP:0000822	Hypertension
5654	HTRA1	HP:0030890	Hyperintensity of cerebral white matter on MRI
5654	HTRA1	HP:0030892	Deep cerebral white matter hyperintensities
5654	HTRA1	HP:0030833	Neck pain
5654	HTRA1	HP:0040161	Localized osteoporosis
5654	HTRA1	HP:0001596	Alopecia
5654	HTRA1	HP:0012444	Brain atrophy
5654	HTRA1	HP:0025708	Early young adult onset
5654	HTRA1	HP:0012514	Lower limb pain
5654	HTRA1	HP:0012520	Dilation of Virchow-Robin spaces
5657	PRTN3	HP:0100820	Glomerulopathy
5657	PRTN3	HP:0001287	Meningitis
5657	PRTN3	HP:0001250	Seizure
5657	PRTN3	HP:0000083	Renal insufficiency
5657	PRTN3	HP:0000093	Proteinuria
5657	PRTN3	HP:0000071	Ureteral stenosis
5657	PRTN3	HP:0000024	Prostatitis
5657	PRTN3	HP:0002637	Cerebral ischemia
5657	PRTN3	HP:0002633	Vasculitis
5657	PRTN3	HP:0000163	Abnormal oral cavity morphology
5657	PRTN3	HP:0000126	Hydronephrosis
5657	PRTN3	HP:0002017	Nausea and vomiting
5657	PRTN3	HP:0002027	Abdominal pain
5657	PRTN3	HP:0003326	Myalgia
5657	PRTN3	HP:0100533	Inflammatory abnormality of the eye
5657	PRTN3	HP:0100539	Periorbital edema
5657	PRTN3	HP:0002093	Respiratory insufficiency
5657	PRTN3	HP:0002091	Restrictive ventilatory defect
5657	PRTN3	HP:0002102	Pleuritis
5657	PRTN3	HP:0002113	Pulmonary infiltrates
5657	PRTN3	HP:0002105	Hemoptysis
5657	PRTN3	HP:0002239	Gastrointestinal hemorrhage
5657	PRTN3	HP:0003565	Elevated erythrocyte sedimentation rate
5657	PRTN3	HP:0002205	Recurrent respiratory infections
5657	PRTN3	HP:0002206	Pulmonary fibrosis
5657	PRTN3	HP:0100749	Chest pain
5657	PRTN3	HP:0100758	Gangrene
5657	PRTN3	HP:0002315	Headache
5657	PRTN3	HP:0200034	Papule
5657	PRTN3	HP:0009830	Peripheral neuropathy
5657	PRTN3	HP:0200042	Skin ulcer
5657	PRTN3	HP:0002301	Hemiplegia
5657	PRTN3	HP:0004936	Venous thrombosis
5657	PRTN3	HP:0006824	Cranial nerve paralysis
5657	PRTN3	HP:0001945	Fever
5657	PRTN3	HP:0012649	Increased inflammatory response
5657	PRTN3	HP:0012735	Cough
5657	PRTN3	HP:0000763	Sensory neuropathy
5657	PRTN3	HP:0000790	Hematuria
5657	PRTN3	HP:0000873	Diabetes insipidus
5657	PRTN3	HP:0000864	Abnormality of the hypothalamus-pituitary axis
5657	PRTN3	HP:0000822	Hypertension
5657	PRTN3	HP:0000979	Purpura
5657	PRTN3	HP:0000988	Skin rash
5657	PRTN3	HP:0011675	Arrhythmia
5657	PRTN3	HP:0002829	Arthralgia
5657	PRTN3	HP:0000246	Sinusitis
5657	PRTN3	HP:0006510	Chronic pulmonary obstruction
5657	PRTN3	HP:0012378	Fatigue
5657	PRTN3	HP:0000389	Chronic otitis media
5657	PRTN3	HP:0000388	Otitis media
5657	PRTN3	HP:0005214	Intestinal obstruction
5657	PRTN3	HP:0006535	Recurrent intrapulmonary hemorrhage
5657	PRTN3	HP:0000366	Abnormality of the nose
5657	PRTN3	HP:0001681	Angina pectoris
5657	PRTN3	HP:0002960	Autoimmunity
5657	PRTN3	HP:0002955	Granulomatosis
5657	PRTN3	HP:0000407	Sensorineural hearing impairment
5657	PRTN3	HP:0001733	Pancreatitis
5657	PRTN3	HP:0001701	Pericarditis
5657	PRTN3	HP:0000488	Retinopathy
5657	PRTN3	HP:0000421	Epistaxis
5657	PRTN3	HP:0000520	Proptosis
5657	PRTN3	HP:0001824	Weight loss
5657	PRTN3	HP:0000505	Visual impairment
5657	PRTN3	HP:0011227	Elevated circulating C-reactive protein concentration
5660	PSAP	HP:0002487	Hyperkinetic movements
5660	PSAP	HP:0002483	Bulbar signs
5660	PSAP	HP:0002478	Progressive spastic quadriplegia
5660	PSAP	HP:0007305	CNS demyelination
5660	PSAP	HP:0008619	Bilateral sensorineural hearing impairment
5660	PSAP	HP:0100963	Hyperesthesia
5660	PSAP	HP:0007272	Progressive psychomotor deterioration
5660	PSAP	HP:0007266	Cerebral dysmyelination
5660	PSAP	HP:0020221	Clonic seizure
5660	PSAP	HP:0007240	Progressive gait ataxia
5660	PSAP	HP:0002421	Poor head control
5660	PSAP	HP:0002415	Leukodystrophy
5660	PSAP	HP:0001298	Encephalopathy
5660	PSAP	HP:0001290	Generalized hypotonia
5660	PSAP	HP:0001276	Hypertonia
5660	PSAP	HP:0001271	Polyneuropathy
5660	PSAP	HP:0001268	Mental deterioration
5660	PSAP	HP:0001285	Spastic tetraparesis
5660	PSAP	HP:0001250	Seizure
5660	PSAP	HP:0001252	Hypotonia
5660	PSAP	HP:0001265	Hyporeflexia
5660	PSAP	HP:0001264	Spastic diplegia
5660	PSAP	HP:0001260	Dysarthria
5660	PSAP	HP:0001263	Global developmental delay
5660	PSAP	HP:0001257	Spasticity
5660	PSAP	HP:0007334	Bilateral tonic-clonic seizure with focal onset
5660	PSAP	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
5660	PSAP	HP:0002518	Abnormal periventricular white matter morphology
5660	PSAP	HP:0002516	Increased intracranial pressure
5660	PSAP	HP:0002529	Neuronal loss in central nervous system
5660	PSAP	HP:0003828	Variable expressivity
5660	PSAP	HP:0002506	Diffuse cerebral atrophy
5660	PSAP	HP:0000020	Urinary incontinence
5660	PSAP	HP:0001347	Hyperreflexia
5660	PSAP	HP:0008872	Feeding difficulties in infancy
5660	PSAP	HP:0031161	Reduced brain glutamate level by MRS
5660	PSAP	HP:0001332	Dystonia
5660	PSAP	HP:0001324	Muscle weakness
5660	PSAP	HP:0000007	Autosomal recessive inheritance
5660	PSAP	HP:0000006	Autosomal dominant inheritance
5660	PSAP	HP:0001336	Myoclonus
5660	PSAP	HP:0002653	Bone pain
5660	PSAP	HP:0002607	Bowel incontinence
5660	PSAP	HP:0007663	Reduced visual acuity
5660	PSAP	HP:0002719	Recurrent infections
5660	PSAP	HP:0002020	Gastroesophageal reflux
5660	PSAP	HP:0002015	Dysphagia
5660	PSAP	HP:0002013	Vomiting
5660	PSAP	HP:0005968	Temperature instability
5660	PSAP	HP:0011813	Increased cerebral lipofuscin
5660	PSAP	HP:0002080	Intention tremor
5660	PSAP	HP:0002098	Respiratory distress
5660	PSAP	HP:0002093	Respiratory insufficiency
5660	PSAP	HP:0002069	Bilateral tonic-clonic seizure
5660	PSAP	HP:0002066	Gait ataxia
5660	PSAP	HP:0002063	Rigidity
5660	PSAP	HP:0002061	Lower limb spasticity
5660	PSAP	HP:0002079	Hypoplasia of the corpus callosum
5660	PSAP	HP:0002072	Chorea
5660	PSAP	HP:0100575	Neoplasm of the gallbladder
5660	PSAP	HP:0003477	Peripheral axonal neuropathy
5660	PSAP	HP:0003487	Babinski sign
5660	PSAP	HP:0002123	Generalized myoclonic seizure
5660	PSAP	HP:0002119	Ventriculomegaly
5660	PSAP	HP:0002133	Status epilepticus
5660	PSAP	HP:0003444	EMG: chronic denervation signs
5660	PSAP	HP:0002179	Opisthotonus
5660	PSAP	HP:0003596	Middle age onset
5660	PSAP	HP:0003593	Infantile onset
5660	PSAP	HP:0003577	Congenital onset
5660	PSAP	HP:0002240	Hepatomegaly
5660	PSAP	HP:0003552	Muscle stiffness
5660	PSAP	HP:0003547	Shoulder girdle muscle weakness
5660	PSAP	HP:0002205	Recurrent respiratory infections
5660	PSAP	HP:0010729	Cherry red spot of the macula
5660	PSAP	HP:0002283	Global brain atrophy
5660	PSAP	HP:0100753	Schizophrenia
5660	PSAP	HP:0011968	Feeding difficulties
5660	PSAP	HP:0001053	Hypopigmented skin patches
5660	PSAP	HP:0002380	Fasciculations
5660	PSAP	HP:0025013	Decerebrate rigidity
5660	PSAP	HP:0002361	Psychomotor deterioration
5660	PSAP	HP:0002359	Frequent falls
5660	PSAP	HP:0002376	Developmental regression
5660	PSAP	HP:0002371	Loss of speech
5660	PSAP	HP:0002344	Progressive neurologic deterioration
5660	PSAP	HP:0002355	Difficulty walking
5660	PSAP	HP:0002354	Memory impairment
5660	PSAP	HP:0002322	Resting tremor
5660	PSAP	HP:0004975	Erlenmeyer flask deformity of the femurs
5660	PSAP	HP:0001082	Cholecystitis
5660	PSAP	HP:0007141	Sensorimotor neuropathy
5660	PSAP	HP:0007133	Progressive peripheral neuropathy
5660	PSAP	HP:0007103	Hypointensity of cerebral white matter on MRI
5660	PSAP	HP:0003623	Neonatal onset
5660	PSAP	HP:0002312	Clumsiness
5660	PSAP	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
5660	PSAP	HP:0031860	Abnormal heart rate variability
5660	PSAP	HP:0006897	Abducens palsy
5660	PSAP	HP:0001971	Hypersplenism
5660	PSAP	HP:0000649	Abnormality of visual evoked potentials
5660	PSAP	HP:0000648	Optic atrophy
5660	PSAP	HP:0000618	Blindness
5660	PSAP	HP:0000613	Photophobia
5660	PSAP	HP:0001955	Unexplained fevers
5660	PSAP	HP:0000605	Supranuclear gaze palsy
5660	PSAP	HP:0001939	Abnormality of metabolism/homeostasis
5660	PSAP	HP:0001903	Anemia
5660	PSAP	HP:0009062	Infantile axial hypotonia
5660	PSAP	HP:0000666	Horizontal nystagmus
5660	PSAP	HP:0004326	Cachexia
5660	PSAP	HP:0004302	Functional motor deficit
5660	PSAP	HP:0004343	Abnormal glycosphingolipid metabolism
5660	PSAP	HP:0000762	Decreased nerve conduction velocity
5660	PSAP	HP:0000738	Hallucinations
5660	PSAP	HP:0000737	Irritability
5660	PSAP	HP:0000736	Short attention span
5660	PSAP	HP:0000746	Delusions
5660	PSAP	HP:0012706	Elevated brain choline level by MRS
5660	PSAP	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
5660	PSAP	HP:0000716	Depression
5660	PSAP	HP:0000712	Emotional lability
5660	PSAP	HP:0000726	Dementia
5660	PSAP	HP:0011470	Nasogastric tube feeding in infancy
5660	PSAP	HP:0011462	Young adult onset
5660	PSAP	HP:0011448	Ankle clonus
5660	PSAP	HP:0004466	Prolonged brainstem auditory evoked potentials
5660	PSAP	HP:0003148	Elevated serum acid phosphatase
5660	PSAP	HP:0003146	Hypocholesterolemia
5660	PSAP	HP:0030890	Hyperintensity of cerebral white matter on MRI
5660	PSAP	HP:0003270	Abdominal distention
5660	PSAP	HP:0000938	Osteopenia
5660	PSAP	HP:0040194	Increased head circumference
5660	PSAP	HP:0040195	Decreased head circumference
5660	PSAP	HP:0030081	Punctate periventricular T2 hyperintense foci
5660	PSAP	HP:0002878	Respiratory failure
5660	PSAP	HP:0001522	Death in infancy
5660	PSAP	HP:0002871	Central apnea
5660	PSAP	HP:0031358	Vegetative state
5660	PSAP	HP:0001508	Failure to thrive
5660	PSAP	HP:0030051	Tip-toe gait
5660	PSAP	HP:0011096	Peripheral demyelination
5660	PSAP	HP:0012379	Abnormal circulating enzyme concentration or activity
5660	PSAP	HP:0001601	Laryngomalacia
5660	PSAP	HP:0002922	Increased CSF protein concentration
5660	PSAP	HP:0000365	Hearing impairment
5660	PSAP	HP:0032792	Tonic seizure
5660	PSAP	HP:0011169	Generalized clonic seizure
5660	PSAP	HP:0030215	Inappropriate crying
5660	PSAP	HP:0030211	Slow pupillary light response
5660	PSAP	HP:0000496	Abnormality of eye movement
5660	PSAP	HP:0012433	Abnormal social behavior
5660	PSAP	HP:0000467	Neck muscle weakness
5660	PSAP	HP:0012432	Chronic fatigue
5660	PSAP	HP:0001744	Splenomegaly
5660	PSAP	HP:0000508	Ptosis
5660	PSAP	HP:0000572	Visual loss
5660	PSAP	HP:0001873	Thrombocytopenia
5663	PSEN1	HP:0002493	Upper motor neuron dysfunction
5663	PSEN1	HP:0002465	Poor speech
5663	PSEN1	HP:0002463	Language impairment
5663	PSEN1	HP:0003791	Deposits immunoreactive to beta-amyloid protein
5663	PSEN1	HP:0002476	Primitive reflex
5663	PSEN1	HP:0002442	Dyscalculia
5663	PSEN1	HP:0002446	Astrocytosis
5663	PSEN1	HP:0003745	Sporadic
5663	PSEN1	HP:0002427	Expressive aphasia
5663	PSEN1	HP:0001297	Stroke
5663	PSEN1	HP:0001276	Hypertonia
5663	PSEN1	HP:0001268	Mental deterioration
5663	PSEN1	HP:0001289	Confusion
5663	PSEN1	HP:0001288	Gait disturbance
5663	PSEN1	HP:0001285	Spastic tetraparesis
5663	PSEN1	HP:0100838	Recurrent cutaneous abscess formation
5663	PSEN1	HP:0001279	Syncope
5663	PSEN1	HP:0001250	Seizure
5663	PSEN1	HP:0001251	Ataxia
5663	PSEN1	HP:0001249	Intellectual disability
5663	PSEN1	HP:0001260	Dysarthria
5663	PSEN1	HP:0002591	Polyphagia
5663	PSEN1	HP:0008768	Inappropriate sexual behavior
5663	PSEN1	HP:0007354	Amyotrophic lateral sclerosis
5663	PSEN1	HP:0002511	Alzheimer disease
5663	PSEN1	HP:0002529	Neuronal loss in central nervous system
5663	PSEN1	HP:0002500	Abnormal cerebral white matter morphology
5663	PSEN1	HP:0001347	Hyperreflexia
5663	PSEN1	HP:0001332	Dystonia
5663	PSEN1	HP:0000006	Autosomal dominant inheritance
5663	PSEN1	HP:0001336	Myoclonus
5663	PSEN1	HP:0033755	Increased left ventricular end-diastolic volume
5663	PSEN1	HP:0001300	Parkinsonism
5663	PSEN1	HP:0002015	Dysphagia
5663	PSEN1	HP:0002069	Bilateral tonic-clonic seizure
5663	PSEN1	HP:0002071	Abnormality of extrapyramidal motor function
5663	PSEN1	HP:0100578	Lipoatrophy
5663	PSEN1	HP:0011713	Left bundle branch block
5663	PSEN1	HP:0011705	First degree atrioventricular block
5663	PSEN1	HP:0002145	Frontotemporal dementia
5663	PSEN1	HP:0003487	Babinski sign
5663	PSEN1	HP:0002120	Cerebral cortical atrophy
5663	PSEN1	HP:0003457	EMG abnormality
5663	PSEN1	HP:0002186	Apraxia
5663	PSEN1	HP:0002185	Neurofibrillary tangles
5663	PSEN1	HP:0002167	Abnormality of speech or vocalization
5663	PSEN1	HP:0002171	Gliosis
5663	PSEN1	HP:0010529	Echolalia
5663	PSEN1	HP:0010522	Dyslexia
5663	PSEN1	HP:0010526	Dysgraphia
5663	PSEN1	HP:0010525	Finger agnosia
5663	PSEN1	HP:0010524	Agnosia
5663	PSEN1	HP:0010523	Alexia
5663	PSEN1	HP:0003596	Middle age onset
5663	PSEN1	HP:0003581	Adult onset
5663	PSEN1	HP:0002380	Fasciculations
5663	PSEN1	HP:0002381	Aphasia
5663	PSEN1	HP:0002395	Lower limb hyperreflexia
5663	PSEN1	HP:0002366	Abnormal lower motor neuron morphology
5663	PSEN1	HP:0002371	Loss of speech
5663	PSEN1	HP:0002354	Memory impairment
5663	PSEN1	HP:0003678	Rapidly progressive
5663	PSEN1	HP:0007112	Temporal cortical atrophy
5663	PSEN1	HP:0002300	Mutism
5663	PSEN1	HP:0031868	Optic ataxia
5663	PSEN1	HP:0006892	Frontotemporal cerebral atrophy
5663	PSEN1	HP:0012666	Severely reduced left ventricular ejection fraction
5663	PSEN1	HP:0012671	Abulia
5663	PSEN1	HP:0012658	Abnormal brain FDG positron emission tomography
5663	PSEN1	HP:0000657	Oculomotor apraxia
5663	PSEN1	HP:0006977	Deficit in grammar
5663	PSEN1	HP:0030692	Brain neoplasm
5663	PSEN1	HP:0000757	Lack of insight
5663	PSEN1	HP:0000751	Personality changes
5663	PSEN1	HP:0000738	Hallucinations
5663	PSEN1	HP:0000737	Irritability
5663	PSEN1	HP:0000739	Anxiety
5663	PSEN1	HP:0000734	Disinhibition
5663	PSEN1	HP:0000733	Abnormal repetitive mannerisms
5663	PSEN1	HP:0000748	Inappropriate laughter
5663	PSEN1	HP:0000745	Diminished motivation
5663	PSEN1	HP:0000741	Apathy
5663	PSEN1	HP:0000719	Inappropriate behavior
5663	PSEN1	HP:0000716	Depression
5663	PSEN1	HP:0000718	Aggressive behavior
5663	PSEN1	HP:0000711	Restlessness
5663	PSEN1	HP:0000713	Agitation
5663	PSEN1	HP:0000710	Hyperorality
5663	PSEN1	HP:0000727	Frontal lobe dementia
5663	PSEN1	HP:0000726	Dementia
5663	PSEN1	HP:0000723	Restrictive behavior
5663	PSEN1	HP:0000709	Psychosis
5663	PSEN1	HP:0000708	Atypical behavior
5663	PSEN1	HP:0011446	Abnormality of higher mental function
5663	PSEN1	HP:0012759	Neurodevelopmental abnormality
5663	PSEN1	HP:0030784	Anomic aphasia
5663	PSEN1	HP:0003198	Myopathy
5663	PSEN1	HP:0100315	Lewy bodies
5663	PSEN1	HP:0003236	Elevated circulating creatine kinase concentration
5663	PSEN1	HP:0100256	Senile plaques
5663	PSEN1	HP:0000982	Palmoplantar keratoderma
5663	PSEN1	HP:0040154	Acne inversa
5663	PSEN1	HP:0012322	Perifolliculitis
5663	PSEN1	HP:0001644	Dilated cardiomyopathy
5663	PSEN1	HP:0001635	Congestive heart failure
5663	PSEN1	HP:0000407	Sensorineural hearing impairment
5663	PSEN1	HP:0001712	Left ventricular hypertrophy
5663	PSEN1	HP:0030213	Emotional blunting
5663	PSEN1	HP:0030212	Collectionism
5663	PSEN1	HP:0030219	Semantic dementia
5663	PSEN1	HP:0030223	Manifestations of perseverative thought or action
5663	PSEN1	HP:0030222	Visual agnosia
5663	PSEN1	HP:0011132	Chronic furunculosis
5663	PSEN1	HP:0012444	Brain atrophy
5663	PSEN1	HP:0000474	Thickened nuchal skin fold
5663	PSEN1	HP:0012433	Abnormal social behavior
5663	PSEN1	HP:0025710	Late young adult onset
5663	PSEN1	HP:0000504	Abnormality of vision
5663	PSEN1	HP:0011204	EEG with continuous slow activity
5663	PSEN1	HP:0030391	Spoken word recognition deficit
5663	PSEN1	HP:0001874	Abnormality of neutrophils
5664	PSEN2	HP:0002463	Language impairment
5664	PSEN2	HP:0003791	Deposits immunoreactive to beta-amyloid protein
5664	PSEN2	HP:0001276	Hypertonia
5664	PSEN2	HP:0001289	Confusion
5664	PSEN2	HP:0001279	Syncope
5664	PSEN2	HP:0001250	Seizure
5664	PSEN2	HP:0001251	Ataxia
5664	PSEN2	HP:0001249	Intellectual disability
5664	PSEN2	HP:0002511	Alzheimer disease
5664	PSEN2	HP:0000006	Autosomal dominant inheritance
5664	PSEN2	HP:0001336	Myoclonus
5664	PSEN2	HP:0033755	Increased left ventricular end-diastolic volume
5664	PSEN2	HP:0001300	Parkinsonism
5664	PSEN2	HP:0100543	Cognitive impairment
5664	PSEN2	HP:0100578	Lipoatrophy
5664	PSEN2	HP:0011713	Left bundle branch block
5664	PSEN2	HP:0011705	First degree atrioventricular block
5664	PSEN2	HP:0002120	Cerebral cortical atrophy
5664	PSEN2	HP:0003457	EMG abnormality
5664	PSEN2	HP:0002186	Apraxia
5664	PSEN2	HP:0002185	Neurofibrillary tangles
5664	PSEN2	HP:0010526	Dysgraphia
5664	PSEN2	HP:0010525	Finger agnosia
5664	PSEN2	HP:0003596	Middle age onset
5664	PSEN2	HP:0003584	Late onset
5664	PSEN2	HP:0011970	Cerebral amyloid angiopathy
5664	PSEN2	HP:0002381	Aphasia
5664	PSEN2	HP:0002354	Memory impairment
5664	PSEN2	HP:0012664	Reduced left ventricular ejection fraction
5664	PSEN2	HP:0012662	Parietal hypometabolism in FDG PET
5664	PSEN2	HP:0000657	Oculomotor apraxia
5664	PSEN2	HP:0006979	Sleep-wake cycle disturbance
5664	PSEN2	HP:0000738	Hallucinations
5664	PSEN2	HP:0000734	Disinhibition
5664	PSEN2	HP:0000713	Agitation
5664	PSEN2	HP:0000726	Dementia
5664	PSEN2	HP:0011446	Abnormality of higher mental function
5664	PSEN2	HP:0012759	Neurodevelopmental abnormality
5664	PSEN2	HP:0003198	Myopathy
5664	PSEN2	HP:0003236	Elevated circulating creatine kinase concentration
5664	PSEN2	HP:0100256	Senile plaques
5664	PSEN2	HP:0000982	Palmoplantar keratoderma
5664	PSEN2	HP:0005110	Atrial fibrillation
5664	PSEN2	HP:0001644	Dilated cardiomyopathy
5664	PSEN2	HP:0001635	Congestive heart failure
5664	PSEN2	HP:0000407	Sensorineural hearing impairment
5664	PSEN2	HP:0001712	Left ventricular hypertrophy
5664	PSEN2	HP:0030219	Semantic dementia
5664	PSEN2	HP:0012433	Abnormal social behavior
5664	PSEN2	HP:0025710	Late young adult onset
5664	PSEN2	HP:0000504	Abnormality of vision
5664	PSEN2	HP:0001874	Abnormality of neutrophils
5689	PSMB1	HP:0010864	Intellectual disability, severe
5689	PSMB1	HP:0001270	Motor delay
5689	PSMB1	HP:0001252	Hypotonia
5689	PSMB1	HP:0001263	Global developmental delay
5689	PSMB1	HP:0002540	Inability to walk
5689	PSMB1	HP:0001344	Absent speech
5689	PSMB1	HP:0000007	Autosomal recessive inheritance
5689	PSMB1	HP:0007018	Attention deficit hyperactivity disorder
5689	PSMB1	HP:0000718	Aggressive behavior
5689	PSMB1	HP:0000252	Microcephaly
5689	PSMB1	HP:0000365	Hearing impairment
5692	PSMB4	HP:0025131	Finger swelling
5692	PSMB4	HP:0001371	Flexion contracture
5692	PSMB4	HP:0001369	Arthritis
5692	PSMB4	HP:0000007	Autosomal recessive inheritance
5692	PSMB4	HP:0002719	Recurrent infections
5692	PSMB4	HP:0002716	Lymphadenopathy
5692	PSMB4	HP:0100539	Periorbital edema
5692	PSMB4	HP:0002155	Hypertriglyceridemia
5692	PSMB4	HP:0002240	Hepatomegaly
5692	PSMB4	HP:0003565	Elevated erythrocyte sedimentation rate
5692	PSMB4	HP:0010702	Increased circulating antibody level
5692	PSMB4	HP:0100614	Myositis
5692	PSMB4	HP:0001954	Recurrent fever
5692	PSMB4	HP:0001903	Anemia
5692	PSMB4	HP:0009125	Lipodystrophy
5692	PSMB4	HP:0000988	Skin rash
5692	PSMB4	HP:0000956	Acanthosis nigricans
5692	PSMB4	HP:0002829	Arthralgia
5692	PSMB4	HP:0000246	Sinusitis
5692	PSMB4	HP:0001508	Failure to thrive
5692	PSMB4	HP:0002910	Elevated hepatic transaminase
5692	PSMB4	HP:0012490	Panniculitis
5692	PSMB4	HP:0001744	Splenomegaly
5692	PSMB4	HP:0000509	Conjunctivitis
5692	PSMB4	HP:0001888	Lymphopenia
5692	PSMB4	HP:0001873	Thrombocytopenia
5696	PSMB8	HP:0025131	Finger swelling
5696	PSMB8	HP:0100807	Long fingers
5696	PSMB8	HP:0001256	Intellectual disability, mild
5696	PSMB8	HP:0001250	Seizure
5696	PSMB8	HP:0001249	Intellectual disability
5696	PSMB8	HP:0001371	Flexion contracture
5696	PSMB8	HP:0000031	Epididymitis
5696	PSMB8	HP:0008887	Adipose tissue loss
5696	PSMB8	HP:0001324	Muscle weakness
5696	PSMB8	HP:0000007	Autosomal recessive inheritance
5696	PSMB8	HP:0002653	Bone pain
5696	PSMB8	HP:0001315	Reduced tendon reflexes
5696	PSMB8	HP:0000179	Thick lower lip vermilion
5696	PSMB8	HP:0000158	Macroglossia
5696	PSMB8	HP:0002788	Recurrent upper respiratory tract infections
5696	PSMB8	HP:0002716	Lymphadenopathy
5696	PSMB8	HP:0033178	Increased circulating interleukin 8 concentration
5696	PSMB8	HP:0100534	Episcleritis
5696	PSMB8	HP:0040270	Impaired glucose tolerance
5696	PSMB8	HP:0002155	Hypertriglyceridemia
5696	PSMB8	HP:0002135	Basal ganglia calcification
5696	PSMB8	HP:0100490	Camptodactyly of finger
5696	PSMB8	HP:0011850	Parotitis
5696	PSMB8	HP:0003593	Infantile onset
5696	PSMB8	HP:0002240	Hepatomegaly
5696	PSMB8	HP:0002216	Premature graying of hair
5696	PSMB8	HP:0002215	Sparse axillary hair
5696	PSMB8	HP:0003565	Elevated erythrocyte sedimentation rate
5696	PSMB8	HP:0010702	Increased circulating antibody level
5696	PSMB8	HP:0100759	Clubbing of fingers
5696	PSMB8	HP:0200035	Skin plaque
5696	PSMB8	HP:0010783	Erythema
5696	PSMB8	HP:0001954	Recurrent fever
5696	PSMB8	HP:0001935	Microcytic anemia
5696	PSMB8	HP:0004322	Short stature
5696	PSMB8	HP:0000771	Gynecomastia
5696	PSMB8	HP:0012785	Flexion contracture of finger
5696	PSMB8	HP:0011463	Childhood onset
5696	PSMB8	HP:0009125	Lipodystrophy
5696	PSMB8	HP:0011421	Death in adolescence
5696	PSMB8	HP:0030783	Increased circulating interleukin 6 concentration
5696	PSMB8	HP:0000882	Hypoplastic scapulae
5696	PSMB8	HP:0000858	Irregular menstruation
5696	PSMB8	HP:0003233	Decreased HDL cholesterol concentration
5696	PSMB8	HP:0003237	Increased circulating IgG level
5696	PSMB8	HP:0003202	Skeletal muscle atrophy
5696	PSMB8	HP:0005830	Flexion contracture of toe
5696	PSMB8	HP:0003261	Increased circulating IgA level
5696	PSMB8	HP:0000998	Hypertrichosis
5696	PSMB8	HP:0000953	Hyperpigmentation of the skin
5696	PSMB8	HP:0000956	Acanthosis nigricans
5696	PSMB8	HP:0011675	Arrhythmia
5696	PSMB8	HP:0000292	Loss of facial adipose tissue
5696	PSMB8	HP:0002829	Arthralgia
5696	PSMB8	HP:0012219	Erythema nodosum
5696	PSMB8	HP:0001538	Protuberant abdomen
5696	PSMB8	HP:0001508	Failure to thrive
5696	PSMB8	HP:0001507	Growth abnormality
5696	PSMB8	HP:0030053	Stiff skin
5696	PSMB8	HP:0001510	Growth delay
5696	PSMB8	HP:0007856	Punctate opacification of the cornea
5696	PSMB8	HP:0002910	Elevated hepatic transaminase
5696	PSMB8	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
5696	PSMB8	HP:0002987	Elbow flexion contracture
5696	PSMB8	HP:0001640	Cardiomegaly
5696	PSMB8	HP:0001635	Congestive heart failure
5696	PSMB8	HP:0012490	Panniculitis
5696	PSMB8	HP:0005328	Progeroid facial appearance
5696	PSMB8	HP:0000403	Recurrent otitis media
5696	PSMB8	HP:0000400	Macrotia
5696	PSMB8	HP:0012450	Chronic constipation
5696	PSMB8	HP:0011108	Recurrent sinusitis
5696	PSMB8	HP:0000448	Prominent nose
5696	PSMB8	HP:0001744	Splenomegaly
5696	PSMB8	HP:0000520	Proptosis
5696	PSMB8	HP:0001822	Hallux valgus
5696	PSMB8	HP:0000509	Conjunctivitis
5696	PSMB8	HP:0030356	Increased circulating interferon-gamma concentration
5696	PSMB8	HP:0011227	Elevated circulating C-reactive protein concentration
5696	PSMB8	HP:0001873	Thrombocytopenia
5698	PSMB9	HP:0025131	Finger swelling
5698	PSMB9	HP:0001371	Flexion contracture
5698	PSMB9	HP:0001369	Arthritis
5698	PSMB9	HP:0000007	Autosomal recessive inheritance
5698	PSMB9	HP:0002719	Recurrent infections
5698	PSMB9	HP:0002716	Lymphadenopathy
5698	PSMB9	HP:0100539	Periorbital edema
5698	PSMB9	HP:0002155	Hypertriglyceridemia
5698	PSMB9	HP:0002240	Hepatomegaly
5698	PSMB9	HP:0003565	Elevated erythrocyte sedimentation rate
5698	PSMB9	HP:0010702	Increased circulating antibody level
5698	PSMB9	HP:0100614	Myositis
5698	PSMB9	HP:0001954	Recurrent fever
5698	PSMB9	HP:0001903	Anemia
5698	PSMB9	HP:0009125	Lipodystrophy
5698	PSMB9	HP:0000988	Skin rash
5698	PSMB9	HP:0000956	Acanthosis nigricans
5698	PSMB9	HP:0002829	Arthralgia
5698	PSMB9	HP:0000246	Sinusitis
5698	PSMB9	HP:0001508	Failure to thrive
5698	PSMB9	HP:0002910	Elevated hepatic transaminase
5698	PSMB9	HP:0012490	Panniculitis
5698	PSMB9	HP:0001744	Splenomegaly
5698	PSMB9	HP:0000509	Conjunctivitis
5698	PSMB9	HP:0001888	Lymphopenia
5698	PSMB9	HP:0001873	Thrombocytopenia
5699	PSMB10	HP:0000007	Autosomal recessive inheritance
5699	PSMB10	HP:0002155	Hypertriglyceridemia
5699	PSMB10	HP:0002240	Hepatomegaly
5699	PSMB10	HP:0033331	Acute phase response
5699	PSMB10	HP:0003623	Neonatal onset
5699	PSMB10	HP:0001945	Fever
5699	PSMB10	HP:0000988	Skin rash
5699	PSMB10	HP:0001531	Failure to thrive in infancy
5699	PSMB10	HP:0001744	Splenomegaly
5700	PSMC1	HP:0010864	Intellectual disability, severe
5700	PSMC1	HP:0002540	Inability to walk
5700	PSMC1	HP:0002510	Spastic tetraplegia
5700	PSMC1	HP:0000081	Duplicated collecting system
5700	PSMC1	HP:0000054	Micropenis
5700	PSMC1	HP:0000028	Cryptorchidism
5700	PSMC1	HP:0001344	Absent speech
5700	PSMC1	HP:0000007	Autosomal recessive inheritance
5700	PSMC1	HP:0008936	Axial hypotonia
5700	PSMC1	HP:0011800	Midface retrusion
5700	PSMC1	HP:0002072	Chorea
5700	PSMC1	HP:0033142	Long nasal bridge
5700	PSMC1	HP:0003593	Infantile onset
5700	PSMC1	HP:0033454	Tube feeding
5700	PSMC1	HP:0006844	Absent patellar reflexes
5700	PSMC1	HP:0001972	Macrocytic anemia
5700	PSMC1	HP:0011623	Muscular ventricular septal defect
5700	PSMC1	HP:0000268	Dolichocephaly
5700	PSMC1	HP:0000252	Microcephaly
5700	PSMC1	HP:0001508	Failure to thrive
5700	PSMC1	HP:0000365	Hearing impairment
5700	PSMC1	HP:0000347	Micrognathia
5700	PSMC1	HP:0000574	Thick eyebrow
5702	PSMC3	HP:0009938	Sunken cheeks
5702	PSMC3	HP:0001271	Polyneuropathy
5702	PSMC3	HP:0100830	Round ear
5702	PSMC3	HP:0000007	Autosomal recessive inheritance
5702	PSMC3	HP:0007618	Subcutaneous calcification
5702	PSMC3	HP:0003577	Congenital onset
5702	PSMC3	HP:0011344	Severe global developmental delay
5702	PSMC3	HP:0011343	Moderate global developmental delay
5702	PSMC3	HP:0000664	Synophrys
5702	PSMC3	HP:0000729	Autistic behavior
5702	PSMC3	HP:0000272	Malar flattening
5702	PSMC3	HP:0000365	Hearing impairment
5702	PSMC3	HP:0000336	Prominent supraorbital ridges
5702	PSMC3	HP:0000322	Short philtrum
5702	PSMC3	HP:0000486	Strabismus
5702	PSMC3	HP:0000519	Developmental cataract
5718	PSMD12	HP:0008607	Progressive conductive hearing impairment
5718	PSMD12	HP:0008551	Microtia
5718	PSMD12	HP:0001270	Motor delay
5718	PSMD12	HP:0001256	Intellectual disability, mild
5718	PSMD12	HP:0001250	Seizure
5718	PSMD12	HP:0001252	Hypotonia
5718	PSMD12	HP:0001249	Intellectual disability
5718	PSMD12	HP:0001263	Global developmental delay
5718	PSMD12	HP:0000076	Vesicoureteral reflux
5718	PSMD12	HP:0000073	Ureteral duplication
5718	PSMD12	HP:0000054	Micropenis
5718	PSMD12	HP:0000047	Hypospadias
5718	PSMD12	HP:0000049	Shawl scrotum
5718	PSMD12	HP:0000028	Cryptorchidism
5718	PSMD12	HP:0000006	Autosomal dominant inheritance
5718	PSMD12	HP:0002650	Scoliosis
5718	PSMD12	HP:0008935	Generalized neonatal hypotonia
5718	PSMD12	HP:0004691	2-3 toe syndactyly
5718	PSMD12	HP:0011800	Midface retrusion
5718	PSMD12	HP:0003593	Infantile onset
5718	PSMD12	HP:0003577	Congenital onset
5718	PSMD12	HP:0100704	Cerebral visual impairment
5718	PSMD12	HP:0011968	Feeding difficulties
5718	PSMD12	HP:0009824	Upper limb undergrowth
5718	PSMD12	HP:0200053	Hemihypotrophy of lower limb
5718	PSMD12	HP:0010794	Impaired visuospatial constructive cognition
5718	PSMD12	HP:0009777	Absent thumb
5718	PSMD12	HP:0009778	Short thumb
5718	PSMD12	HP:0000639	Nystagmus
5718	PSMD12	HP:0001956	Truncal obesity
5718	PSMD12	HP:0012683	Pineal cyst
5718	PSMD12	HP:0000692	Tooth malposition
5718	PSMD12	HP:0011304	Broad thumb
5718	PSMD12	HP:0000664	Synophrys
5718	PSMD12	HP:0003028	Abnormality of the ankle
5718	PSMD12	HP:0003019	Abnormality of the wrist
5718	PSMD12	HP:0000752	Hyperactivity
5718	PSMD12	HP:0000738	Hallucinations
5718	PSMD12	HP:0000739	Anxiety
5718	PSMD12	HP:0000750	Delayed speech and language development
5718	PSMD12	HP:0000718	Aggressive behavior
5718	PSMD12	HP:0000712	Emotional lability
5718	PSMD12	HP:0000729	Autistic behavior
5718	PSMD12	HP:0000708	Atypical behavior
5718	PSMD12	HP:0012795	Abnormal optic disc morphology
5718	PSMD12	HP:0011463	Childhood onset
5718	PSMD12	HP:0011461	Fetal onset
5718	PSMD12	HP:0000869	Secondary amenorrhea
5718	PSMD12	HP:0000824	Decreased response to growth hormone stimulation test
5718	PSMD12	HP:0011648	Patent ductus arteriosus after birth at term
5718	PSMD12	HP:0000960	Sacral dimple
5718	PSMD12	HP:0000278	Retrognathia
5718	PSMD12	HP:0000219	Thin upper lip vermilion
5718	PSMD12	HP:0001531	Failure to thrive in infancy
5718	PSMD12	HP:0000362	Otosclerosis
5718	PSMD12	HP:0000365	Hearing impairment
5718	PSMD12	HP:0000369	Low-set ears
5718	PSMD12	HP:0000347	Micrognathia
5718	PSMD12	HP:0000316	Hypertelorism
5718	PSMD12	HP:0001643	Patent ductus arteriosus
5718	PSMD12	HP:0001642	Pulmonic stenosis
5718	PSMD12	HP:0001660	Truncus arteriosus
5718	PSMD12	HP:0001657	Prolonged QT interval
5718	PSMD12	HP:0000322	Short philtrum
5718	PSMD12	HP:0000325	Triangular face
5718	PSMD12	HP:0000324	Facial asymmetry
5718	PSMD12	HP:0001629	Ventricular septal defect
5718	PSMD12	HP:0002967	Cubitus valgus
5718	PSMD12	HP:0000403	Recurrent otitis media
5718	PSMD12	HP:0000486	Strabismus
5718	PSMD12	HP:0000494	Downslanted palpebral fissures
5718	PSMD12	HP:0000490	Deeply set eye
5718	PSMD12	HP:0000475	Broad neck
5718	PSMD12	HP:0000470	Short neck
5718	PSMD12	HP:0000448	Prominent nose
5718	PSMD12	HP:0000431	Wide nasal bridge
5718	PSMD12	HP:0000508	Ptosis
5718	PSMD12	HP:0000574	Thick eyebrow
5718	PSMD12	HP:0000545	Myopia
5723	PSPH	HP:0001276	Hypertonia
5723	PSPH	HP:0001250	Seizure
5723	PSPH	HP:0001249	Intellectual disability
5723	PSPH	HP:0001263	Global developmental delay
5723	PSPH	HP:0000047	Hypospadias
5723	PSPH	HP:0008897	Postnatal growth retardation
5723	PSPH	HP:0000007	Autosomal recessive inheritance
5723	PSPH	HP:0000154	Wide mouth
5723	PSPH	HP:0002020	Gastroesophageal reflux
5723	PSPH	HP:0100540	Palpebral edema
5723	PSPH	HP:0002069	Bilateral tonic-clonic seizure
5723	PSPH	HP:0002059	Cerebral atrophy
5723	PSPH	HP:0003593	Infantile onset
5723	PSPH	HP:0011968	Feeding difficulties
5723	PSPH	HP:0002342	Intellectual disability, moderate
5723	PSPH	HP:0100633	Esophagitis
5723	PSPH	HP:0001999	Abnormal facial shape
5723	PSPH	HP:0012279	Hyposerinemia
5723	PSPH	HP:0000293	Full cheeks
5723	PSPH	HP:0000252	Microcephaly
5723	PSPH	HP:0001511	Intrauterine growth retardation
5723	PSPH	HP:0000341	Narrow forehead
5723	PSPH	HP:0000337	Broad forehead
5723	PSPH	HP:0000347	Micrognathia
5727	PTCH1	HP:0001156	Brachydactyly
5727	PTCH1	HP:0001166	Arachnodactyly
5727	PTCH1	HP:0002465	Poor speech
5727	PTCH1	HP:0001144	Orbital cyst
5727	PTCH1	HP:0002474	Expressive language delay
5727	PTCH1	HP:0002436	Occipital meningocele
5727	PTCH1	HP:0002451	Limb dystonia
5727	PTCH1	HP:0007301	Oromotor apraxia
5727	PTCH1	HP:0009932	Single naris
5727	PTCH1	HP:0009914	Cyclopia
5727	PTCH1	HP:0009891	Underdeveloped supraorbital ridges
5727	PTCH1	HP:0009894	Thickened ears
5727	PTCH1	HP:0002418	Abnormal midbrain morphology
5727	PTCH1	HP:0002414	Spina bifida
5727	PTCH1	HP:0001290	Generalized hypotonia
5727	PTCH1	HP:0001274	Agenesis of corpus callosum
5727	PTCH1	HP:0001273	Abnormal corpus callosum morphology
5727	PTCH1	HP:0001270	Motor delay
5727	PTCH1	HP:0001254	Lethargy
5727	PTCH1	HP:0001250	Seizure
5727	PTCH1	HP:0001252	Hypotonia
5727	PTCH1	HP:0001249	Intellectual disability
5727	PTCH1	HP:0001263	Global developmental delay
5727	PTCH1	HP:0001257	Spasticity
5727	PTCH1	HP:0008736	Hypoplasia of penis
5727	PTCH1	HP:0007375	Abnormal septum pellucidum morphology
5727	PTCH1	HP:0002540	Inability to walk
5727	PTCH1	HP:0002514	Cerebral calcification
5727	PTCH1	HP:0003829	Typified by incomplete penetrance
5727	PTCH1	HP:0002507	Semilobar holoprosencephaly
5727	PTCH1	HP:0000098	Tall stature
5727	PTCH1	HP:0000062	Ambiguous genitalia
5727	PTCH1	HP:0000044	Hypogonadotropic hypogonadism
5727	PTCH1	HP:0001371	Flexion contracture
5727	PTCH1	HP:0001355	Megalencephaly
5727	PTCH1	HP:0025318	Ovarian carcinoma
5727	PTCH1	HP:0001360	Holoprosencephaly
5727	PTCH1	HP:0000028	Cryptorchidism
5727	PTCH1	HP:0002664	Neoplasm
5727	PTCH1	HP:0001328	Specific learning disability
5727	PTCH1	HP:0001344	Absent speech
5727	PTCH1	HP:0002671	Basal cell carcinoma
5727	PTCH1	HP:0001338	Partial agenesis of the corpus callosum
5727	PTCH1	HP:0002667	Nephroblastoma
5727	PTCH1	HP:0000006	Autosomal dominant inheritance
5727	PTCH1	HP:0002650	Scoliosis
5727	PTCH1	HP:0000193	Bifid uvula
5727	PTCH1	HP:0000161	Median cleft lip
5727	PTCH1	HP:0000160	Narrow mouth
5727	PTCH1	HP:0000175	Cleft palate
5727	PTCH1	HP:0006315	Solitary median maxillary central incisor
5727	PTCH1	HP:0007633	Bilateral microphthalmos
5727	PTCH1	HP:0008947	Infantile muscular hypotonia
5727	PTCH1	HP:0012110	Hypoplasia of the pons
5727	PTCH1	HP:0000119	Abnormality of the genitourinary system
5727	PTCH1	HP:0002793	Abnormal pattern of respiration
5727	PTCH1	HP:0000104	Renal agenesis
5727	PTCH1	HP:0002751	Kyphoscoliosis
5727	PTCH1	HP:0002020	Gastroesophageal reflux
5727	PTCH1	HP:0002019	Constipation
5727	PTCH1	HP:0002033	Poor suck
5727	PTCH1	HP:0002015	Dysphagia
5727	PTCH1	HP:0002013	Vomiting
5727	PTCH1	HP:0040327	Abnormal morphology of the olfactory bulb
5727	PTCH1	HP:0002007	Frontal bossing
5727	PTCH1	HP:0005968	Temperature instability
5727	PTCH1	HP:0011803	Bifid nose
5727	PTCH1	HP:0011800	Midface retrusion
5727	PTCH1	HP:0002099	Asthma
5727	PTCH1	HP:0010442	Polydactyly
5727	PTCH1	HP:0011787	Central hypothyroidism
5727	PTCH1	HP:0003468	Abnormal vertebral morphology
5727	PTCH1	HP:0002119	Ventriculomegaly
5727	PTCH1	HP:0004795	Hamartomatous stomach polyps
5727	PTCH1	HP:0003458	EMG: myopathic abnormalities
5727	PTCH1	HP:0010609	Skin tags
5727	PTCH1	HP:0010603	Odontogenic keratocysts of the jaw
5727	PTCH1	HP:0002270	Abnormality of the autonomic nervous system
5727	PTCH1	HP:0003577	Congenital onset
5727	PTCH1	HP:0100704	Cerebral visual impairment
5727	PTCH1	HP:0100710	Impulsivity
5727	PTCH1	HP:0002247	Duodenal atresia
5727	PTCH1	HP:0009729	Cardiac rhabdomyoma
5727	PTCH1	HP:0009730	Rhabdomyoma
5727	PTCH1	HP:0010664	Fusion of the left and right thalami
5727	PTCH1	HP:0010654	Aplasia of the falx cerebri
5727	PTCH1	HP:0007018	Attention deficit hyperactivity disorder
5727	PTCH1	HP:0010649	Flat nasal alae
5727	PTCH1	HP:0010644	Midnasal stenosis
5727	PTCH1	HP:0010650	Hypoplasia of the premaxilla
5727	PTCH1	HP:0011968	Feeding difficulties
5727	PTCH1	HP:0009650	Short distal phalanx of the thumb
5727	PTCH1	HP:0011951	Aspiration pneumonia
5727	PTCH1	HP:0010618	Ovarian fibroma
5727	PTCH1	HP:0010617	Cardiac fibroma
5727	PTCH1	HP:0010610	Palmar pits
5727	PTCH1	HP:0010612	Plantar pits
5727	PTCH1	HP:0001056	Milia
5727	PTCH1	HP:0002365	Hypoplasia of the brainstem
5727	PTCH1	HP:0002363	Abnormal brainstem morphology
5727	PTCH1	HP:0001028	Hemangioma
5727	PTCH1	HP:0200021	Down-sloping shoulders
5727	PTCH1	HP:0008501	Median cleft lip and palate
5727	PTCH1	HP:0010804	Tented upper lip vermilion
5727	PTCH1	HP:0009800	Maternal diabetes
5727	PTCH1	HP:0008422	Vertebral wedging
5727	PTCH1	HP:0002308	Chiari malformation
5727	PTCH1	HP:0006870	Lobar holoprosencephaly
5727	PTCH1	HP:0031860	Abnormal heart rate variability
5727	PTCH1	HP:0009099	Median cleft palate
5727	PTCH1	HP:0004280	Irregular ossification of hand bones
5727	PTCH1	HP:0000612	Iris coloboma
5727	PTCH1	HP:0000601	Hypotelorism
5727	PTCH1	HP:0009062	Infantile axial hypotonia
5727	PTCH1	HP:0010044	Short 4th metacarpal
5727	PTCH1	HP:0000684	Delayed eruption of teeth
5727	PTCH1	HP:0011330	Metopic synostosis
5727	PTCH1	HP:0012650	Perisylvian polymicrogyria
5727	PTCH1	HP:0000670	Carious teeth
5727	PTCH1	HP:0000664	Synophrys
5727	PTCH1	HP:0006988	Alobar holoprosencephaly
5727	PTCH1	HP:0004322	Short stature
5727	PTCH1	HP:0006979	Sleep-wake cycle disturbance
5727	PTCH1	HP:0005616	Accelerated skeletal maturation
5727	PTCH1	HP:0030680	Abnormality of cardiovascular system morphology
5727	PTCH1	HP:0005692	Joint hyperflexibility
5727	PTCH1	HP:0031913	Rhombencephalosynapsis
5727	PTCH1	HP:0000752	Hyperactivity
5727	PTCH1	HP:0000772	Abnormal rib morphology
5727	PTCH1	HP:0000767	Pectus excavatum
5727	PTCH1	HP:0000766	Abnormal sternum morphology
5727	PTCH1	HP:0000737	Irritability
5727	PTCH1	HP:0000739	Anxiety
5727	PTCH1	HP:0000736	Short attention span
5727	PTCH1	HP:0012718	Morphological abnormality of the gastrointestinal tract
5727	PTCH1	HP:0000741	Apathy
5727	PTCH1	HP:0000716	Depression
5727	PTCH1	HP:0000708	Atypical behavior
5727	PTCH1	HP:0011471	Gastrostomy tube feeding in infancy
5727	PTCH1	HP:0011442	Abnormal central motor function
5727	PTCH1	HP:0000773	Short ribs
5727	PTCH1	HP:0004408	Abnormality of the sense of smell
5727	PTCH1	HP:0003196	Short nose
5727	PTCH1	HP:0000912	Sprengel anomaly
5727	PTCH1	HP:0000925	Abnormality of the vertebral column
5727	PTCH1	HP:0000924	Abnormality of the skeletal system
5727	PTCH1	HP:0004478	Ethmoidal encephalocele
5727	PTCH1	HP:0000873	Diabetes insipidus
5727	PTCH1	HP:0000892	Bifid ribs
5727	PTCH1	HP:0000871	Panhypopituitarism
5727	PTCH1	HP:0000863	Central diabetes insipidus
5727	PTCH1	HP:0100333	Unilateral cleft lip
5727	PTCH1	HP:0000830	Anterior hypopituitarism
5727	PTCH1	HP:0100336	Bilateral cleft lip
5727	PTCH1	HP:0100337	Bilateral cleft palate
5727	PTCH1	HP:0100334	Unilateral cleft palate
5727	PTCH1	HP:0012806	Proboscis
5727	PTCH1	HP:0000818	Abnormality of the endocrine system
5727	PTCH1	HP:0000826	Precocious puberty
5727	PTCH1	HP:0000821	Hypothyroidism
5727	PTCH1	HP:0000824	Decreased response to growth hormone stimulation test
5727	PTCH1	HP:0040064	Abnormality of limbs
5727	PTCH1	HP:0000995	Melanocytic nevus
5727	PTCH1	HP:0045005	Neural tube defect
5727	PTCH1	HP:0005815	Supernumerary ribs
5727	PTCH1	HP:0012285	Abnormal hypothalamus physiology
5727	PTCH1	HP:0000286	Epicanthus
5727	PTCH1	HP:0000283	Broad face
5727	PTCH1	HP:0000280	Coarse facial features
5727	PTCH1	HP:0000256	Macrocephaly
5727	PTCH1	HP:0000267	Cranial asymmetry
5727	PTCH1	HP:0005104	Hypoplastic nasal septum
5727	PTCH1	HP:0002827	Hip dislocation
5727	PTCH1	HP:0002808	Kyphosis
5727	PTCH1	HP:0000242	Parietal bossing
5727	PTCH1	HP:0000243	Trigonocephaly
5727	PTCH1	HP:0000238	Hydrocephalus
5727	PTCH1	HP:0000252	Microcephaly
5727	PTCH1	HP:0000248	Brachycephaly
5727	PTCH1	HP:0000218	High palate
5727	PTCH1	HP:0001545	Anteriorly placed anus
5727	PTCH1	HP:0002885	Medulloblastoma
5727	PTCH1	HP:0002859	Rhabdomyosarcoma
5727	PTCH1	HP:0002871	Central apnea
5727	PTCH1	HP:0001537	Umbilical hernia
5727	PTCH1	HP:0001539	Omphalocele
5727	PTCH1	HP:0000202	Orofacial cleft
5727	PTCH1	HP:0000204	Cleft upper lip
5727	PTCH1	HP:0001508	Failure to thrive
5727	PTCH1	HP:0001520	Large for gestational age
5727	PTCH1	HP:0001511	Intrauterine growth retardation
5727	PTCH1	HP:0001510	Growth delay
5727	PTCH1	HP:0012368	Flat face
5727	PTCH1	HP:0006528	Chronic lung disease
5727	PTCH1	HP:0002937	Hemivertebrae
5727	PTCH1	HP:0002948	Vertebral fusion
5727	PTCH1	HP:0000369	Low-set ears
5727	PTCH1	HP:0000343	Long philtrum
5727	PTCH1	HP:0001680	Coarctation of aorta
5727	PTCH1	HP:0000316	Hypertelorism
5727	PTCH1	HP:0000322	Short philtrum
5727	PTCH1	HP:0001627	Abnormal heart morphology
5727	PTCH1	HP:0001622	Premature birth
5727	PTCH1	HP:0001636	Tetralogy of Fallot
5727	PTCH1	HP:0000303	Mandibular prognathia
5727	PTCH1	HP:0000407	Sensorineural hearing impairment
5727	PTCH1	HP:0000400	Macrotia
5727	PTCH1	HP:0005273	Absent nasal septal cartilage
5727	PTCH1	HP:0000486	Strabismus
5727	PTCH1	HP:0000478	Abnormality of the eye
5727	PTCH1	HP:0000494	Downslanted palpebral fissures
5727	PTCH1	HP:0000488	Retinopathy
5727	PTCH1	HP:0000464	Abnormality of the neck
5727	PTCH1	HP:0000463	Anteverted nares
5727	PTCH1	HP:0000457	Depressed nasal ridge
5727	PTCH1	HP:0000470	Short neck
5727	PTCH1	HP:0000437	Depressed nasal tip
5727	PTCH1	HP:0000453	Choanal atresia
5727	PTCH1	HP:0000446	Narrow nasal bridge
5727	PTCH1	HP:0000431	Wide nasal bridge
5727	PTCH1	HP:0004122	Midline defect of the nose
5727	PTCH1	HP:0005449	Bridged sella turcica
5727	PTCH1	HP:0005469	Flat occiput
5727	PTCH1	HP:0005462	Calcification of falx cerebri
5727	PTCH1	HP:0000518	Cataract
5727	PTCH1	HP:0000506	Telecanthus
5727	PTCH1	HP:0000501	Glaucoma
5727	PTCH1	HP:0000582	Upslanted palpebral fissure
5727	PTCH1	HP:0000586	Shallow orbits
5727	PTCH1	HP:0000568	Microphthalmia
5728	PTEN	HP:0001156	Brachydactyly
5728	PTEN	HP:0001167	Abnormal finger morphology
5728	PTEN	HP:0001161	Hand polydactyly
5728	PTEN	HP:0002463	Language impairment
5728	PTEN	HP:0001140	Limbal dermoid
5728	PTEN	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
5728	PTEN	HP:0009928	Thick nasal alae
5728	PTEN	HP:0007266	Cerebral dysmyelination
5728	PTEN	HP:0007256	Abnormal pyramidal sign
5728	PTEN	HP:0010864	Intellectual disability, severe
5728	PTEN	HP:0001100	Heterochromia iridis
5728	PTEN	HP:0003764	Nevus
5728	PTEN	HP:0001102	Angioid streaks of the fundus
5728	PTEN	HP:0003715	Myofibrillar myopathy
5728	PTEN	HP:0001290	Generalized hypotonia
5728	PTEN	HP:0001270	Motor delay
5728	PTEN	HP:0002584	Intestinal bleeding
5728	PTEN	HP:0001256	Intellectual disability, mild
5728	PTEN	HP:0001250	Seizure
5728	PTEN	HP:0001252	Hypotonia
5728	PTEN	HP:0001251	Ataxia
5728	PTEN	HP:0001249	Intellectual disability
5728	PTEN	HP:0002597	Abnormality of the vasculature
5728	PTEN	HP:0001263	Global developmental delay
5728	PTEN	HP:0002576	Intussusception
5728	PTEN	HP:0002573	Hematochezia
5728	PTEN	HP:0007440	Generalized hyperpigmentation
5728	PTEN	HP:0006101	Finger syndactyly
5728	PTEN	HP:0007400	Irregular hyperpigmentation
5728	PTEN	HP:0007392	Excessive wrinkled skin
5728	PTEN	HP:0008675	Enlarged polycystic ovaries
5728	PTEN	HP:0002539	Cortical dysplasia
5728	PTEN	HP:0002516	Increased intracranial pressure
5728	PTEN	HP:0003829	Typified by incomplete penetrance
5728	PTEN	HP:0000098	Tall stature
5728	PTEN	HP:0012062	Bone cyst
5728	PTEN	HP:0000077	Abnormality of the kidney
5728	PTEN	HP:0000040	Long penis
5728	PTEN	HP:0012032	Lipoma
5728	PTEN	HP:0000036	Abnormal penis morphology
5728	PTEN	HP:0001388	Joint laxity
5728	PTEN	HP:0001387	Joint stiffness
5728	PTEN	HP:0000053	Macroorchidism
5728	PTEN	HP:0025318	Ovarian carcinoma
5728	PTEN	HP:0001363	Craniosynostosis
5728	PTEN	HP:0000034	Hydrocele testis
5728	PTEN	HP:0007565	Multiple cafe-au-lait spots
5728	PTEN	HP:0007552	Abnormal subcutaneous fat tissue distribution
5728	PTEN	HP:0012081	Enlarged cerebellum
5728	PTEN	HP:0002664	Neoplasm
5728	PTEN	HP:0001324	Muscle weakness
5728	PTEN	HP:0001334	Communicating hydrocephalus
5728	PTEN	HP:0002665	Lymphoma
5728	PTEN	HP:0000006	Autosomal dominant inheritance
5728	PTEN	HP:0002652	Skeletal dysplasia
5728	PTEN	HP:0001320	Cerebellar vermis hypoplasia
5728	PTEN	HP:0002650	Scoliosis
5728	PTEN	HP:0001317	Abnormal cerebellum morphology
5728	PTEN	HP:0000189	Narrow palate
5728	PTEN	HP:0000160	Narrow mouth
5728	PTEN	HP:0000158	Macroglossia
5728	PTEN	HP:0012125	Prostate cancer
5728	PTEN	HP:0000138	Ovarian cyst
5728	PTEN	HP:0001482	Subcutaneous nodule
5728	PTEN	HP:0012114	Endometrial carcinoma
5728	PTEN	HP:0000147	Polycystic ovaries
5728	PTEN	HP:0002705	High, narrow palate
5728	PTEN	HP:0500009	Dysplastic gangliocytoma of the cerebellum
5728	PTEN	HP:0012110	Hypoplasia of the pons
5728	PTEN	HP:0000130	Abnormality of the uterus
5728	PTEN	HP:0002757	Recurrent fractures
5728	PTEN	HP:0001428	Somatic mutation
5728	PTEN	HP:0000107	Renal cyst
5728	PTEN	HP:0002750	Delayed skeletal maturation
5728	PTEN	HP:0002719	Recurrent infections
5728	PTEN	HP:0002017	Nausea and vomiting
5728	PTEN	HP:0002035	Rectal prolapse
5728	PTEN	HP:0002027	Abdominal pain
5728	PTEN	HP:0002003	Large forehead
5728	PTEN	HP:0002014	Diarrhea
5728	PTEN	HP:0002007	Frontal bossing
5728	PTEN	HP:0003312	Abnormal form of the vertebral bodies
5728	PTEN	HP:0100521	Neoplasm of the thymus
5728	PTEN	HP:0100526	Neoplasm of the lung
5728	PTEN	HP:0011800	Midface retrusion
5728	PTEN	HP:0002080	Intention tremor
5728	PTEN	HP:0100543	Cognitive impairment
5728	PTEN	HP:0100560	Upper limb asymmetry
5728	PTEN	HP:0100555	Asymmetric growth
5728	PTEN	HP:0100559	Lower limb asymmetry
5728	PTEN	HP:0100579	Mucosal telangiectasiae
5728	PTEN	HP:0010497	Sirenomelia
5728	PTEN	HP:0005916	Abnormal metacarpal morphology
5728	PTEN	HP:0002141	Gait imbalance
5728	PTEN	HP:0002123	Generalized myoclonic seizure
5728	PTEN	HP:0002119	Ventriculomegaly
5728	PTEN	HP:0002126	Polymicrogyria
5728	PTEN	HP:0002101	Abnormal lung lobation
5728	PTEN	HP:0010609	Skin tags
5728	PTEN	HP:0002194	Delayed gross motor development
5728	PTEN	HP:0002167	Abnormality of speech or vocalization
5728	PTEN	HP:0002170	Intracranial hemorrhage
5728	PTEN	HP:0010566	Hamartoma
5728	PTEN	HP:0010516	Thymus hyperplasia
5728	PTEN	HP:0010508	Metatarsus valgus
5728	PTEN	HP:0009594	Retinal hamartoma
5728	PTEN	HP:0003593	Infantile onset
5728	PTEN	HP:0002243	Protein-losing enteropathy
5728	PTEN	HP:0002240	Hepatomegaly
5728	PTEN	HP:0002239	Gastrointestinal hemorrhage
5728	PTEN	HP:0002253	Colonic diverticula
5728	PTEN	HP:0002250	Abnormal large intestine morphology
5728	PTEN	HP:0003581	Adult onset
5728	PTEN	HP:0002249	Melena
5728	PTEN	HP:0002230	Generalized hirsutism
5728	PTEN	HP:0002208	Coarse hair
5728	PTEN	HP:0002204	Pulmonary embolism
5728	PTEN	HP:0100764	Lymphangioma
5728	PTEN	HP:0100780	Conjunctival hamartoma
5728	PTEN	HP:0100777	Exostoses
5728	PTEN	HP:0100774	Hyperostosis
5728	PTEN	HP:0009720	Adenoma sebaceum
5728	PTEN	HP:0009721	Shagreen patch
5728	PTEN	HP:0100730	Bronchogenic cyst
5728	PTEN	HP:0002282	Gray matter heterotopia
5728	PTEN	HP:0100761	Visceral angiomatosis
5728	PTEN	HP:0100759	Clubbing of fingers
5728	PTEN	HP:0007033	Cerebellar dysplasia
5728	PTEN	HP:0010619	Fibroadenoma of the breast
5728	PTEN	HP:0010614	Fibroma
5728	PTEN	HP:0001053	Hypopigmented skin patches
5728	PTEN	HP:0001048	Cavernous hemangioma
5728	PTEN	HP:0002365	Hypoplasia of the brainstem
5728	PTEN	HP:0001031	Subcutaneous lipoma
5728	PTEN	HP:0001028	Hemangioma
5728	PTEN	HP:0001009	Telangiectasia
5728	PTEN	HP:0001004	Lymphedema
5728	PTEN	HP:0002315	Headache
5728	PTEN	HP:0001000	Abnormality of skin pigmentation
5728	PTEN	HP:0200016	Acrokeratosis
5728	PTEN	HP:0100646	Thyroiditis
5728	PTEN	HP:0007206	Hemimegalencephaly
5728	PTEN	HP:0200034	Papule
5728	PTEN	HP:0010816	Epidermal nevus
5728	PTEN	HP:0200008	Intestinal polyposis
5728	PTEN	HP:0010819	Atonic seizure
5728	PTEN	HP:0010807	Open bite
5728	PTEN	HP:0200063	Colorectal polyposis
5728	PTEN	HP:0009804	Tooth agenesis
5728	PTEN	HP:0100615	Ovarian neoplasm
5728	PTEN	HP:0001072	Thickened skin
5728	PTEN	HP:0100641	Neoplasm of the adrenal cortex
5728	PTEN	HP:0010797	Hemangioblastoma
5728	PTEN	HP:0010784	Uterine neoplasm
5728	PTEN	HP:0010788	Testicular neoplasm
5728	PTEN	HP:0004942	Aortic aneurysm
5728	PTEN	HP:0004209	Clinodactyly of the 5th finger
5728	PTEN	HP:0005505	Refractory anemia
5728	PTEN	HP:0006824	Cranial nerve paralysis
5728	PTEN	HP:0005595	Generalized hyperkeratosis
5728	PTEN	HP:0005584	Renal cell carcinoma
5728	PTEN	HP:0001943	Hypoglycemia
5728	PTEN	HP:0000615	Abnormal pupil morphology
5728	PTEN	HP:0001933	Subcutaneous hemorrhage
5728	PTEN	HP:0001903	Anemia
5728	PTEN	HP:0011386	Narrow internal auditory canal
5728	PTEN	HP:0000682	Abnormal dental enamel morphology
5728	PTEN	HP:0009023	Abdominal wall muscle weakness
5728	PTEN	HP:0000670	Carious teeth
5728	PTEN	HP:0011304	Broad thumb
5728	PTEN	HP:0001999	Abnormal facial shape
5728	PTEN	HP:0004322	Short stature
5728	PTEN	HP:0003002	Breast carcinoma
5728	PTEN	HP:0004326	Cachexia
5728	PTEN	HP:0004313	Decreased circulating antibody level
5728	PTEN	HP:0030680	Abnormality of cardiovascular system morphology
5728	PTEN	HP:0003073	Hypoalbuminemia
5728	PTEN	HP:0004390	Hamartomatous polyposis
5728	PTEN	HP:0005692	Joint hyperflexibility
5728	PTEN	HP:0004374	Hemiplegia/hemiparesis
5728	PTEN	HP:0003019	Abnormality of the wrist
5728	PTEN	HP:0004349	Reduced bone mineral density
5728	PTEN	HP:0100013	Neoplasm of the breast
5728	PTEN	HP:0100006	Neoplasm of the central nervous system
5728	PTEN	HP:0000771	Gynecomastia
5728	PTEN	HP:0012733	Macule
5728	PTEN	HP:0012740	Papilloma
5728	PTEN	HP:0000767	Pectus excavatum
5728	PTEN	HP:0100031	Neoplasm of the thyroid gland
5728	PTEN	HP:0100026	Arteriovenous malformation
5728	PTEN	HP:0000736	Short attention span
5728	PTEN	HP:0000750	Delayed speech and language development
5728	PTEN	HP:0000717	Autism
5728	PTEN	HP:0010174	Broad phalanx of the toes
5728	PTEN	HP:0030731	Carcinoma
5728	PTEN	HP:0004422	Biparietal narrowing
5728	PTEN	HP:0004420	Arterial thrombosis
5728	PTEN	HP:0004418	Thrombophlebitis
5728	PTEN	HP:0003198	Myopathy
5728	PTEN	HP:0003199	Decreased muscle mass
5728	PTEN	HP:0003196	Short nose
5728	PTEN	HP:0004481	Progressive macrocephaly
5728	PTEN	HP:0004490	Calvarial hyperostosis
5728	PTEN	HP:0012871	Varicocele
5728	PTEN	HP:0000873	Diabetes insipidus
5728	PTEN	HP:0000872	Hashimoto thyroiditis
5728	PTEN	HP:0012844	Trichilemmoma
5728	PTEN	HP:0000854	Thyroid adenoma
5728	PTEN	HP:0000853	Goiter
5728	PTEN	HP:0000836	Hyperthyroidism
5728	PTEN	HP:0000828	Abnormality of the parathyroid gland
5728	PTEN	HP:0000821	Hypothyroidism
5728	PTEN	HP:0000820	Abnormality of the thyroid gland
5728	PTEN	HP:0003202	Skeletal muscle atrophy
5728	PTEN	HP:0000995	Melanocytic nevus
5728	PTEN	HP:0000972	Palmoplantar hyperkeratosis
5728	PTEN	HP:0000973	Cutis laxa
5728	PTEN	HP:0000982	Palmoplantar keratoderma
5728	PTEN	HP:0000965	Cutis marmorata
5728	PTEN	HP:0008069	Neoplasm of the skin
5728	PTEN	HP:0040194	Increased head circumference
5728	PTEN	HP:0007703	Abnormality of retinal pigmentation
5728	PTEN	HP:0000286	Epicanthus
5728	PTEN	HP:0001597	Abnormality of the nail
5728	PTEN	HP:0000256	Macrocephaly
5728	PTEN	HP:0000276	Long face
5728	PTEN	HP:0000268	Dolichocephaly
5728	PTEN	HP:0002816	Genu recurvatum
5728	PTEN	HP:0002827	Hip dislocation
5728	PTEN	HP:0002808	Kyphosis
5728	PTEN	HP:0000238	Hydrocephalus
5728	PTEN	HP:0000252	Microcephaly
5728	PTEN	HP:0000221	Furrowed tongue
5728	PTEN	HP:0001548	Overgrowth
5728	PTEN	HP:0000218	High palate
5728	PTEN	HP:0002894	Neoplasm of the pancreas
5728	PTEN	HP:0002890	Thyroid carcinoma
5728	PTEN	HP:0001555	Asymmetry of the thorax
5728	PTEN	HP:0002861	Melanoma
5728	PTEN	HP:0002858	Meningioma
5728	PTEN	HP:0001508	Failure to thrive
5728	PTEN	HP:0001520	Large for gestational age
5728	PTEN	HP:0001519	Disproportionate tall stature
5728	PTEN	HP:0001513	Obesity
5728	PTEN	HP:0011098	Speech apraxia
5728	PTEN	HP:0007818	Central heterochromia
5728	PTEN	HP:0011027	Abnormal fallopian tube morphology
5728	PTEN	HP:0007899	Retinal nonattachment
5728	PTEN	HP:0005227	Adenomatous colonic polyposis
5728	PTEN	HP:0000365	Hearing impairment
5728	PTEN	HP:0000369	Low-set ears
5728	PTEN	HP:0000343	Long philtrum
5728	PTEN	HP:0031447	Penile freckling
5728	PTEN	HP:0000337	Broad forehead
5728	PTEN	HP:0001681	Angina pectoris
5728	PTEN	HP:0000347	Micrognathia
5728	PTEN	HP:0000316	Hypertelorism
5728	PTEN	HP:0001643	Patent ductus arteriosus
5728	PTEN	HP:0000311	Round face
5728	PTEN	HP:0001645	Sudden cardiac death
5728	PTEN	HP:0000331	Short chin
5728	PTEN	HP:0000327	Hypoplasia of the maxilla
5728	PTEN	HP:0000324	Facial asymmetry
5728	PTEN	HP:0001627	Abnormal heart morphology
5728	PTEN	HP:0001635	Congestive heart failure
5728	PTEN	HP:0001631	Atrial septal defect
5728	PTEN	HP:0000303	Mandibular prognathia
5728	PTEN	HP:0006608	Midclavicular hypoplasia
5728	PTEN	HP:0011147	Typical absence seizure
5728	PTEN	HP:0005374	Cellular immunodeficiency
5728	PTEN	HP:0005306	Capillary hemangioma
5728	PTEN	HP:0000403	Recurrent otitis media
5728	PTEN	HP:0000400	Macrotia
5728	PTEN	HP:0005293	Venous insufficiency
5728	PTEN	HP:0005280	Depressed nasal bridge
5728	PTEN	HP:0000486	Strabismus
5728	PTEN	HP:0000494	Downslanted palpebral fissures
5728	PTEN	HP:0000464	Abnormality of the neck
5728	PTEN	HP:0000463	Anteverted nares
5728	PTEN	HP:0030257	Freckled genitalia
5728	PTEN	HP:0000445	Wide nose
5728	PTEN	HP:0001744	Splenomegaly
5728	PTEN	HP:0006740	Transitional cell carcinoma of the bladder
5728	PTEN	HP:0006731	Follicular thyroid carcinoma
5728	PTEN	HP:0030406	Primary peritoneal carcinoma
5728	PTEN	HP:0011276	Vascular skin abnormality
5728	PTEN	HP:0005490	Postnatal macrocephaly
5728	PTEN	HP:0000518	Cataract
5728	PTEN	HP:0000520	Proptosis
5728	PTEN	HP:0001822	Hallux valgus
5728	PTEN	HP:0000508	Ptosis
5728	PTEN	HP:0000501	Glaucoma
5728	PTEN	HP:0004099	Macrodactyly
5728	PTEN	HP:0000587	Abnormal optic nerve morphology
5728	PTEN	HP:0001892	Abnormal bleeding
5728	PTEN	HP:0011220	Prominent forehead
5728	PTEN	HP:0000557	Buphthalmos
5728	PTEN	HP:0001888	Lymphopenia
5728	PTEN	HP:0000565	Esotropia
5728	PTEN	HP:0000567	Chorioretinal coloboma
5728	PTEN	HP:0000541	Retinal detachment
5728	PTEN	HP:0001883	Talipes
5728	PTEN	HP:0012520	Dilation of Virchow-Robin spaces
5728	PTEN	HP:0000545	Myopia
5732	PTGER2	HP:0012042	Aspirin-induced asthma
5732	PTGER2	HP:0000007	Autosomal recessive inheritance
5732	PTGER2	HP:0002099	Asthma
5732	PTGER2	HP:0100582	Nasal polyposis
5732	PTGER2	HP:4000007	Bronchoconstriction
5740	PTGIS	HP:0001426	Multifactorial inheritance
5740	PTGIS	HP:0004972	Elevated mean arterial pressure
5740	PTGIS	HP:0004421	Elevated systolic blood pressure
5740	PTGIS	HP:0005117	Elevated diastolic blood pressure
5741	PTH	HP:0001281	Tetany
5741	PTH	HP:0002514	Cerebral calcification
5741	PTH	HP:0025303	Episodic
5741	PTH	HP:0000007	Autosomal recessive inheritance
5741	PTH	HP:0000006	Autosomal dominant inheritance
5741	PTH	HP:0000121	Nephrocalcinosis
5741	PTH	HP:0002199	Hypocalcemic seizures
5741	PTH	HP:0003593	Infantile onset
5741	PTH	HP:0031817	Decreased circulating parathyroid hormone level
5741	PTH	HP:0031990	Chvostek sign
5741	PTH	HP:0000737	Irritability
5741	PTH	HP:0000829	Hypoparathyroidism
5741	PTH	HP:0002905	Hyperphosphatemia
5741	PTH	HP:0002901	Hypocalcemia
5741	PTH	HP:0000518	Cataract
5744	PTHLH	HP:0001156	Brachydactyly
5744	PTHLH	HP:0009882	Short distal phalanx of finger
5744	PTHLH	HP:0000006	Autosomal dominant inheritance
5744	PTHLH	HP:0002007	Frontal bossing
5744	PTHLH	HP:0100560	Upper limb asymmetry
5744	PTHLH	HP:0010743	Short metatarsal
5744	PTHLH	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux
5744	PTHLH	HP:0010049	Short metacarpal
5744	PTHLH	HP:0000684	Delayed eruption of teeth
5744	PTHLH	HP:0000677	Oligodontia
5744	PTHLH	HP:0004322	Short stature
5744	PTHLH	HP:0005692	Joint hyperflexibility
5744	PTHLH	HP:0005863	Type E brachydactyly
5744	PTHLH	HP:0000256	Macrocephaly
5745	PTH1R	HP:0001169	Broad palm
5745	PTH1R	HP:0001270	Motor delay
5745	PTH1R	HP:0001249	Intellectual disability
5745	PTH1R	HP:0008754	Laryngeal calcification
5745	PTH1R	HP:0001211	Abnormal fingertip morphology
5745	PTH1R	HP:0001216	Delayed ossification of carpal bones
5745	PTH1R	HP:0002515	Waddling gait
5745	PTH1R	HP:0003826	Stillbirth
5745	PTH1R	HP:0008808	High iliac wing
5745	PTH1R	HP:0008800	Limited hip movement
5745	PTH1R	HP:0001387	Joint stiffness
5745	PTH1R	HP:0002684	Thickened calvaria
5745	PTH1R	HP:0002663	Delayed epiphyseal ossification
5745	PTH1R	HP:0002664	Neoplasm
5745	PTH1R	HP:0002656	Epiphyseal dysplasia
5745	PTH1R	HP:0000007	Autosomal recessive inheritance
5745	PTH1R	HP:0000006	Autosomal dominant inheritance
5745	PTH1R	HP:0002652	Skeletal dysplasia
5745	PTH1R	HP:0002653	Bone pain
5745	PTH1R	HP:0008921	Neonatal short-limb short stature
5745	PTH1R	HP:0008905	Rhizomelia
5745	PTH1R	HP:0000179	Thick lower lip vermilion
5745	PTH1R	HP:0002797	Osteolysis
5745	PTH1R	HP:0001482	Subcutaneous nodule
5745	PTH1R	HP:0006352	Failure of eruption of permanent teeth
5745	PTH1R	HP:0006335	Persistence of primary teeth
5745	PTH1R	HP:0006283	Multiple unerupted teeth
5745	PTH1R	HP:0000121	Nephrocalcinosis
5745	PTH1R	HP:0032524	Long thumb
5745	PTH1R	HP:0002763	Abnormal cartilage morphology
5745	PTH1R	HP:0002756	Pathologic fracture
5745	PTH1R	HP:0002753	Thin bony cortex
5745	PTH1R	HP:0002737	Thick skull base
5745	PTH1R	HP:0004676	Prominent supraorbital arches in adult
5745	PTH1R	HP:0011800	Midface retrusion
5745	PTH1R	HP:0002089	Pulmonary hypoplasia
5745	PTH1R	HP:0100512	Low levels of vitamin D
5745	PTH1R	HP:0008103	Delayed tarsal ossification
5745	PTH1R	HP:0008108	Advanced tarsal ossification
5745	PTH1R	HP:0005930	Abnormal epiphysis morphology
5745	PTH1R	HP:0003468	Abnormal vertebral morphology
5745	PTH1R	HP:0002150	Hypercalciuria
5745	PTH1R	HP:0002148	Hypophosphatemia
5745	PTH1R	HP:0011849	Abnormal bone ossification
5745	PTH1R	HP:0010584	Pseudoepiphyses
5745	PTH1R	HP:0100764	Lymphangioma
5745	PTH1R	HP:0100761	Visceral angiomatosis
5745	PTH1R	HP:0100759	Clubbing of fingers
5745	PTH1R	HP:0003510	Severe short stature
5745	PTH1R	HP:0001028	Hemangioma
5745	PTH1R	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
5745	PTH1R	HP:0100671	Abnormal trabecular bone morphology
5745	PTH1R	HP:0010808	Protruding tongue
5745	PTH1R	HP:0009803	Short phalanx of finger
5745	PTH1R	HP:0200042	Skin ulcer
5745	PTH1R	HP:0002308	Chiari malformation
5745	PTH1R	HP:0004936	Venous thrombosis
5745	PTH1R	HP:0004209	Clinodactyly of the 5th finger
5745	PTH1R	HP:0004279	Short palm
5745	PTH1R	HP:0004233	Advanced ossification of carpal bones
5745	PTH1R	HP:0001928	Abnormality of coagulation
5745	PTH1R	HP:0001903	Anemia
5745	PTH1R	HP:0010049	Short metacarpal
5745	PTH1R	HP:0000677	Oligodontia
5745	PTH1R	HP:0000692	Tooth malposition
5745	PTH1R	HP:0000695	Natal tooth
5745	PTH1R	HP:0000668	Hypodontia
5745	PTH1R	HP:0004325	Decreased body weight
5745	PTH1R	HP:0004322	Short stature
5745	PTH1R	HP:0005616	Accelerated skeletal maturation
5745	PTH1R	HP:0030674	Antenatal onset
5745	PTH1R	HP:0003071	Flattened epiphysis
5745	PTH1R	HP:0003072	Hypercalcemia
5745	PTH1R	HP:0003038	Fibular hypoplasia
5745	PTH1R	HP:0003015	Flared metaphysis
5745	PTH1R	HP:0003026	Short long bone
5745	PTH1R	HP:0003027	Mesomelia
5745	PTH1R	HP:0003025	Metaphyseal irregularity
5745	PTH1R	HP:0003021	Metaphyseal cupping
5745	PTH1R	HP:0000706	Eruption failure
5745	PTH1R	HP:0000774	Narrow chest
5745	PTH1R	HP:0000773	Short ribs
5745	PTH1R	HP:0003109	Hyperphosphaturia
5745	PTH1R	HP:0005701	Multiple enchondromatosis
5745	PTH1R	HP:0005716	Lethal skeletal dysplasia
5745	PTH1R	HP:0003196	Short nose
5745	PTH1R	HP:0000916	Broad clavicles
5745	PTH1R	HP:0000925	Abnormality of the vertebral column
5745	PTH1R	HP:0000926	Platyspondyly
5745	PTH1R	HP:0003177	Squared iliac bones
5745	PTH1R	HP:0003170	Abnormal acetabulum morphology
5745	PTH1R	HP:0003180	Flat acetabular roof
5745	PTH1R	HP:0003155	Elevated circulating alkaline phosphatase concentration
5745	PTH1R	HP:0005789	Generalized osteosclerosis
5745	PTH1R	HP:0000885	Broad ribs
5745	PTH1R	HP:0000829	Hypoparathyroidism
5745	PTH1R	HP:0000826	Precocious puberty
5745	PTH1R	HP:0005871	Metaphyseal chondrodysplasia
5745	PTH1R	HP:0003275	Narrow pelvis bone
5745	PTH1R	HP:0003273	Hip contracture
5745	PTH1R	HP:0010306	Short thorax
5745	PTH1R	HP:0010305	Absence of the sacrum
5745	PTH1R	HP:0000938	Osteopenia
5745	PTH1R	HP:0100240	Synostosis of joints
5745	PTH1R	HP:0100242	Sarcoma
5745	PTH1R	HP:0000944	Abnormal metaphysis morphology
5745	PTH1R	HP:0005819	Short middle phalanx of finger
5745	PTH1R	HP:0009371	Type A1 brachydactyly
5745	PTH1R	HP:0000272	Malar flattening
5745	PTH1R	HP:0000268	Dolichocephaly
5745	PTH1R	HP:0006429	Broad femoral neck
5745	PTH1R	HP:0006402	Distal shortening of limbs
5745	PTH1R	HP:0002829	Arthralgia
5745	PTH1R	HP:0030084	Clinodactyly
5745	PTH1R	HP:0006380	Knee flexion contracture
5745	PTH1R	HP:0006376	Limited elbow flexion
5745	PTH1R	HP:0001571	Multiple impacted teeth
5745	PTH1R	HP:0000248	Brachycephaly
5745	PTH1R	HP:0001561	Polyhydramnios
5745	PTH1R	HP:0001538	Protuberant abdomen
5745	PTH1R	HP:0005151	Preductal coarctation of the aorta
5745	PTH1R	HP:0006487	Bowing of the long bones
5745	PTH1R	HP:0000365	Hearing impairment
5745	PTH1R	HP:0000369	Low-set ears
5745	PTH1R	HP:0000343	Long philtrum
5745	PTH1R	HP:0011001	Increased bone mineral density
5745	PTH1R	HP:0001680	Coarctation of aorta
5745	PTH1R	HP:0000347	Micrognathia
5745	PTH1R	HP:0002983	Micromelia
5745	PTH1R	HP:0000316	Hypertelorism
5745	PTH1R	HP:0000322	Short philtrum
5745	PTH1R	HP:0001622	Premature birth
5745	PTH1R	HP:0002967	Cubitus valgus
5745	PTH1R	HP:0006660	Aplastic clavicle
5745	PTH1R	HP:0005280	Depressed nasal bridge
5745	PTH1R	HP:0000463	Anteverted nares
5745	PTH1R	HP:0001791	Fetal ascites
5745	PTH1R	HP:0001789	Hydrops fetalis
5745	PTH1R	HP:0001773	Short foot
5745	PTH1R	HP:0001769	Broad foot
5745	PTH1R	HP:0000453	Choanal atresia
5745	PTH1R	HP:0001783	Broad metatarsal
5745	PTH1R	HP:0000452	Choanal stenosis
5745	PTH1R	HP:0006765	Chondrosarcoma
5745	PTH1R	HP:0000518	Cataract
5745	PTH1R	HP:0001847	Long hallux
5745	PTH1R	HP:0000520	Proptosis
5745	PTH1R	HP:0000506	Telecanthus
5745	PTH1R	HP:0001831	Short toe
5745	PTH1R	HP:0011220	Prominent forehead
5770	PTPN1	HP:0000006	Autosomal dominant inheritance
5770	PTPN1	HP:0005978	Type II diabetes mellitus
5770	PTPN1	HP:0003584	Late onset
5770	PTPN1	HP:0031819	Increased waist to hip ratio
5770	PTPN1	HP:0000855	Insulin resistance
5771	PTPN2	HP:0001155	Abnormality of the hand
5771	PTPN2	HP:0001371	Flexion contracture
5771	PTPN2	HP:0001370	Rheumatoid arthritis
5771	PTPN2	HP:0001369	Arthritis
5771	PTPN2	HP:0001386	Joint swelling
5771	PTPN2	HP:0001387	Joint stiffness
5771	PTPN2	HP:0001382	Joint hypermobility
5771	PTPN2	HP:0001384	Abnormal hip joint morphology
5771	PTPN2	HP:0008850	Severe postnatal growth retardation
5771	PTPN2	HP:0008843	Hip osteoarthritis
5771	PTPN2	HP:0007663	Reduced visual acuity
5771	PTPN2	HP:0001433	Hepatosplenomegaly
5771	PTPN2	HP:0002716	Lymphadenopathy
5771	PTPN2	HP:0040313	Oligoarthritis
5771	PTPN2	HP:0003326	Myalgia
5771	PTPN2	HP:0003319	Abnormality of the cervical spine
5771	PTPN2	HP:0011911	Abnormal metacarpophalangeal joint morphology
5771	PTPN2	HP:0003493	Antinuclear antibody positivity
5771	PTPN2	HP:0003565	Elevated erythrocyte sedimentation rate
5771	PTPN2	HP:0100769	Synovitis
5771	PTPN2	HP:0001094	Iridocyclitis
5771	PTPN2	HP:0100686	Enthesitis
5771	PTPN2	HP:0010754	Abnormality of the temporomandibular joint
5771	PTPN2	HP:0001903	Anemia
5771	PTPN2	HP:0003028	Abnormality of the ankle
5771	PTPN2	HP:0003043	Abnormal shoulder morphology
5771	PTPN2	HP:0003019	Abnormality of the wrist
5771	PTPN2	HP:0030782	Abnormal circulating interleukin concentration
5771	PTPN2	HP:0002829	Arthralgia
5771	PTPN2	HP:0005086	Knee osteoarthritis
5771	PTPN2	HP:0001530	Mild postnatal growth retardation
5771	PTPN2	HP:0001508	Failure to thrive
5771	PTPN2	HP:0007833	Anterior chamber synechiae
5771	PTPN2	HP:0005186	Synovial hypertrophy
5771	PTPN2	HP:0002960	Autoimmunity
5771	PTPN2	HP:0011134	Low-grade fever
5771	PTPN2	HP:0001785	Ankle swelling
5771	PTPN2	HP:0000518	Cataract
5771	PTPN2	HP:0001824	Weight loss
5771	PTPN2	HP:0001832	Abnormal metatarsal morphology
5771	PTPN2	HP:0000501	Glaucoma
5771	PTPN2	HP:0000585	Band keratopathy
5771	PTPN2	HP:0030356	Increased circulating interferon-gamma concentration
5771	PTPN2	HP:0000554	Uveitis
5771	PTPN2	HP:0000572	Visual loss
5774	PTPN3	HP:0002027	Abdominal pain
5774	PTPN3	HP:0002039	Anorexia
5774	PTPN3	HP:0100574	Biliary tract neoplasm
5774	PTPN3	HP:0011985	Acholic stools
5774	PTPN3	HP:0001945	Fever
5774	PTPN3	HP:0000989	Pruritus
5774	PTPN3	HP:0000952	Jaundice
5774	PTPN3	HP:0012378	Fatigue
5781	PTPN11	HP:0001156	Brachydactyly
5781	PTPN11	HP:0008625	Severe sensorineural hearing impairment
5781	PTPN11	HP:0010885	Avascular necrosis
5781	PTPN11	HP:0001256	Intellectual disability, mild
5781	PTPN11	HP:0001252	Hypotonia
5781	PTPN11	HP:0001249	Intellectual disability
5781	PTPN11	HP:0001260	Dysarthria
5781	PTPN11	HP:0001263	Global developmental delay
5781	PTPN11	HP:0008724	Hypoplasia of the ovary
5781	PTPN11	HP:0007392	Excessive wrinkled skin
5781	PTPN11	HP:0000078	Abnormality of the genital system
5781	PTPN11	HP:0000044	Hypogonadotropic hypogonadism
5781	PTPN11	HP:0001367	Abnormal joint morphology
5781	PTPN11	HP:0000054	Micropenis
5781	PTPN11	HP:0000047	Hypospadias
5781	PTPN11	HP:0000028	Cryptorchidism
5781	PTPN11	HP:0008897	Postnatal growth retardation
5781	PTPN11	HP:0008872	Feeding difficulties in infancy
5781	PTPN11	HP:0007477	Abnormal dermatoglyphics
5781	PTPN11	HP:0001324	Muscle weakness
5781	PTPN11	HP:0000006	Autosomal dominant inheritance
5781	PTPN11	HP:0002653	Bone pain
5781	PTPN11	HP:0002650	Scoliosis
5781	PTPN11	HP:0002617	Vascular dilatation
5781	PTPN11	HP:0000179	Thick lower lip vermilion
5781	PTPN11	HP:0000175	Cleft palate
5781	PTPN11	HP:0000144	Decreased fertility
5781	PTPN11	HP:0000135	Hypogonadism
5781	PTPN11	HP:0001480	Freckling
5781	PTPN11	HP:0001482	Subcutaneous nodule
5781	PTPN11	HP:0002705	High, narrow palate
5781	PTPN11	HP:0000122	Unilateral renal agenesis
5781	PTPN11	HP:0001428	Somatic mutation
5781	PTPN11	HP:0002751	Kyphoscoliosis
5781	PTPN11	HP:0002750	Delayed skeletal maturation
5781	PTPN11	HP:0011800	Midface retrusion
5781	PTPN11	HP:0100542	Abnormal localization of kidney
5781	PTPN11	HP:0009466	Radial deviation of finger
5781	PTPN11	HP:0011710	Bundle branch block
5781	PTPN11	HP:0005930	Abnormal epiphysis morphology
5781	PTPN11	HP:0010463	Aplasia of the ovary
5781	PTPN11	HP:0002167	Abnormality of speech or vocalization
5781	PTPN11	HP:0002162	Low posterior hairline
5781	PTPN11	HP:0011869	Abnormal platelet function
5781	PTPN11	HP:0002240	Hepatomegaly
5781	PTPN11	HP:0002224	Woolly hair
5781	PTPN11	HP:0004859	Amegakaryocytic thrombocytopenia
5781	PTPN11	HP:0002208	Coarse hair
5781	PTPN11	HP:0100763	Abnormality of the lymphatic system
5781	PTPN11	HP:0100769	Synovitis
5781	PTPN11	HP:0100777	Exostoses
5781	PTPN11	HP:0008357	Reduced factor XIII activity
5781	PTPN11	HP:0004841	Reduced factor XII activity
5781	PTPN11	HP:0003691	Scapular winging
5781	PTPN11	HP:0001004	Lymphedema
5781	PTPN11	HP:0001003	Multiple lentigines
5781	PTPN11	HP:0100625	Enlarged thorax
5781	PTPN11	HP:0100697	Neurofibrosarcoma
5781	PTPN11	HP:0004209	Clinodactyly of the 5th finger
5781	PTPN11	HP:0006824	Cranial nerve paralysis
5781	PTPN11	HP:0000639	Nystagmus
5781	PTPN11	HP:0001928	Abnormality of coagulation
5781	PTPN11	HP:0011381	Aplasia of the semicircular canal
5781	PTPN11	HP:0011362	Abnormal hair quantity
5781	PTPN11	HP:0000689	Dental malocclusion
5781	PTPN11	HP:0005655	Multiple digital exostoses
5781	PTPN11	HP:0004322	Short stature
5781	PTPN11	HP:0004306	Abnormal endocardium morphology
5781	PTPN11	HP:0030680	Abnormality of cardiovascular system morphology
5781	PTPN11	HP:0005692	Joint hyperflexibility
5781	PTPN11	HP:0003006	Neuroblastoma
5781	PTPN11	HP:0000767	Pectus excavatum
5781	PTPN11	HP:0000766	Abnormal sternum morphology
5781	PTPN11	HP:0000768	Pectus carinatum
5781	PTPN11	HP:0004415	Pulmonary artery stenosis
5781	PTPN11	HP:0004414	Abnormality of the pulmonary artery
5781	PTPN11	HP:0004409	Hyposmia
5781	PTPN11	HP:0005701	Multiple enchondromatosis
5781	PTPN11	HP:0000917	Superior pectus carinatum
5781	PTPN11	HP:0000914	Shield chest
5781	PTPN11	HP:0000915	Pectus excavatum of inferior sternum
5781	PTPN11	HP:0000912	Sprengel anomaly
5781	PTPN11	HP:0000921	Missing ribs
5781	PTPN11	HP:0000823	Delayed puberty
5781	PTPN11	HP:0003298	Spina bifida occulta
5781	PTPN11	HP:0003251	Male infertility
5781	PTPN11	HP:0000995	Melanocytic nevus
5781	PTPN11	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
5781	PTPN11	HP:0010310	Chylothorax
5781	PTPN11	HP:0000978	Bruising susceptibility
5781	PTPN11	HP:0000974	Hyperextensible skin
5781	PTPN11	HP:0000958	Dry skin
5781	PTPN11	HP:0000957	Cafe-au-lait spot
5781	PTPN11	HP:0000944	Abnormal metaphysis morphology
5781	PTPN11	HP:0011675	Arrhythmia
5781	PTPN11	HP:0000286	Epicanthus
5781	PTPN11	HP:0000256	Macrocephaly
5781	PTPN11	HP:0000271	Abnormality of the face
5781	PTPN11	HP:0030084	Clinodactyly
5781	PTPN11	HP:0000242	Parietal bossing
5781	PTPN11	HP:0000248	Brachycephaly
5781	PTPN11	HP:0012209	Juvenile myelomonocytic leukemia
5781	PTPN11	HP:0000218	High palate
5781	PTPN11	HP:0002861	Melanoma
5781	PTPN11	HP:0001531	Failure to thrive in infancy
5781	PTPN11	HP:0002863	Myelodysplasia
5781	PTPN11	HP:0001511	Intrauterine growth retardation
5781	PTPN11	HP:0001510	Growth delay
5781	PTPN11	HP:0000391	Thickened helices
5781	PTPN11	HP:0001608	Abnormality of the voice
5781	PTPN11	HP:0006487	Bowing of the long bones
5781	PTPN11	HP:0000365	Hearing impairment
5781	PTPN11	HP:0000358	Posteriorly rotated ears
5781	PTPN11	HP:0000369	Low-set ears
5781	PTPN11	HP:0000368	Low-set, posteriorly rotated ears
5781	PTPN11	HP:0001674	Complete atrioventricular canal defect
5781	PTPN11	HP:0000337	Broad forehead
5781	PTPN11	HP:0002996	Limited elbow movement
5781	PTPN11	HP:0001682	Subvalvular aortic stenosis
5781	PTPN11	HP:0001680	Coarctation of aorta
5781	PTPN11	HP:0000348	High forehead
5781	PTPN11	HP:0000347	Micrognathia
5781	PTPN11	HP:0000316	Hypertelorism
5781	PTPN11	HP:0001643	Patent ductus arteriosus
5781	PTPN11	HP:0001642	Pulmonic stenosis
5781	PTPN11	HP:0002974	Radioulnar synostosis
5781	PTPN11	HP:0001658	Myocardial infarction
5781	PTPN11	HP:0000325	Triangular face
5781	PTPN11	HP:0001629	Ventricular septal defect
5781	PTPN11	HP:0001641	Abnormal pulmonary valve morphology
5781	PTPN11	HP:0001639	Hypertrophic cardiomyopathy
5781	PTPN11	HP:0002967	Cubitus valgus
5781	PTPN11	HP:0001631	Atrial septal defect
5781	PTPN11	HP:0000303	Mandibular prognathia
5781	PTPN11	HP:0001634	Mitral valve prolapse
5781	PTPN11	HP:0001633	Abnormal mitral valve morphology
5781	PTPN11	HP:0006610	Wide intermamillary distance
5781	PTPN11	HP:0006695	Atrioventricular canal defect
5781	PTPN11	HP:0000407	Sensorineural hearing impairment
5781	PTPN11	HP:0001709	Third degree atrioventricular block
5781	PTPN11	HP:0000486	Strabismus
5781	PTPN11	HP:0000476	Cystic hygroma
5781	PTPN11	HP:0000494	Downslanted palpebral fissures
5781	PTPN11	HP:0000457	Depressed nasal ridge
5781	PTPN11	HP:0000474	Thickened nuchal skin fold
5781	PTPN11	HP:0000470	Short neck
5781	PTPN11	HP:0000465	Webbed neck
5781	PTPN11	HP:0000411	Protruding ear
5781	PTPN11	HP:0001743	Abnormality of the spleen
5781	PTPN11	HP:0000431	Wide nasal bridge
5781	PTPN11	HP:0000520	Proptosis
5781	PTPN11	HP:0000508	Ptosis
5781	PTPN11	HP:0012569	Delayed menarche
5781	PTPN11	HP:0001892	Abnormal bleeding
5781	PTPN11	HP:0000545	Myopia
5782	PTPN12	HP:0000006	Autosomal dominant inheritance
5782	PTPN12	HP:0001428	Somatic mutation
5782	PTPN12	HP:0005584	Renal cell carcinoma
5782	PTPN12	HP:0002891	Uterine leiomyosarcoma
5782	PTPN12	HP:0006753	Neoplasm of the stomach
5782	PTPN12	HP:0006740	Transitional cell carcinoma of the bladder
5782	PTPN12	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
5784	PTPN14	HP:0000007	Autosomal recessive inheritance
5784	PTPN14	HP:0001004	Lymphedema
5784	PTPN14	HP:0000218	High palate
5784	PTPN14	HP:0001698	Pericardial effusion
5784	PTPN14	HP:0000453	Choanal atresia
5788	PTPRC	HP:0010976	B lymphocytopenia
5788	PTPRC	HP:0003819	Death in childhood
5788	PTPRC	HP:0000007	Autosomal recessive inheritance
5788	PTPRC	HP:0012191	B-cell lymphoma
5788	PTPRC	HP:0001433	Hepatosplenomegaly
5788	PTPRC	HP:0002720	Decreased circulating IgA level
5788	PTPRC	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
5788	PTPRC	HP:0003593	Infantile onset
5788	PTPRC	HP:0001945	Fever
5788	PTPRC	HP:0004315	Decreased circulating IgG level
5788	PTPRC	HP:0004313	Decreased circulating antibody level
5788	PTPRC	HP:0040218	Reduced natural killer cell count
5788	PTPRC	HP:0000988	Skin rash
5788	PTPRC	HP:0002850	Decreased circulating total IgM
5788	PTPRC	HP:0002849	Absence of lymph node germinal center
5788	PTPRC	HP:0005404	Increased B cell count
5788	PTPRC	HP:0005403	T lymphocytopenia
5788	PTPRC	HP:0001888	Lymphopenia
5788	PTPRC	HP:0001876	Pancytopenia
5792	PTPRF	HP:0002561	Absent nipple
5792	PTPRF	HP:0002557	Hypoplastic nipples
5792	PTPRF	HP:0100853	Hypoplastic areola
5792	PTPRF	HP:0002553	Highly arched eyebrow
5792	PTPRF	HP:0000028	Cryptorchidism
5792	PTPRF	HP:0000007	Autosomal recessive inheritance
5792	PTPRF	HP:0007598	Bilateral single transverse palmar creases
5792	PTPRF	HP:0032077	Male urethral meatus stenosis
5792	PTPRF	HP:0000687	Widely spaced teeth
5792	PTPRF	HP:0000385	Small earlobe
5792	PTPRF	HP:0000319	Smooth philtrum
5792	PTPRF	HP:0000463	Anteverted nares
5792	PTPRF	HP:0000455	Broad nasal tip
5795	PTPRJ	HP:0000006	Autosomal dominant inheritance
5795	PTPRJ	HP:0001428	Somatic mutation
5795	PTPRJ	HP:0005584	Renal cell carcinoma
5795	PTPRJ	HP:0002891	Uterine leiomyosarcoma
5795	PTPRJ	HP:0006753	Neoplasm of the stomach
5795	PTPRJ	HP:0006740	Transitional cell carcinoma of the bladder
5795	PTPRJ	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
5800	PTPRO	HP:0003774	Stage 5 chronic kidney disease
5800	PTPRO	HP:0002586	Peritonitis
5800	PTPRO	HP:0000097	Focal segmental glomerulosclerosis
5800	PTPRO	HP:0000093	Proteinuria
5800	PTPRO	HP:0000007	Autosomal recessive inheritance
5800	PTPRO	HP:0000100	Nephrotic syndrome
5800	PTPRO	HP:0002027	Abdominal pain
5800	PTPRO	HP:0100539	Periorbital edema
5800	PTPRO	HP:0011947	Respiratory tract infection
5800	PTPRO	HP:0002315	Headache
5800	PTPRO	HP:0003621	Juvenile onset
5800	PTPRO	HP:0005576	Tubulointerstitial fibrosis
5800	PTPRO	HP:0012622	Chronic kidney disease
5800	PTPRO	HP:0001967	Diffuse mesangial sclerosis
5800	PTPRO	HP:0001945	Fever
5800	PTPRO	HP:0003073	Hypoalbuminemia
5800	PTPRO	HP:0000737	Irritability
5800	PTPRO	HP:0000707	Abnormality of the nervous system
5800	PTPRO	HP:0000969	Edema
5800	PTPRO	HP:0031504	Foamy urine
5800	PTPRO	HP:0012579	Minimal change glomerulonephritis
5805	PTS	HP:0002487	Hyperkinetic movements
5805	PTS	HP:0003785	Decreased CSF homovanillic acid concentration
5805	PTS	HP:0003781	Excessive salivation
5805	PTS	HP:0002421	Poor head control
5805	PTS	HP:0001276	Hypertonia
5805	PTS	HP:0001270	Motor delay
5805	PTS	HP:0001250	Seizure
5805	PTS	HP:0001252	Hypotonia
5805	PTS	HP:0001251	Ataxia
5805	PTS	HP:0001249	Intellectual disability
5805	PTS	HP:0001266	Choreoathetosis
5805	PTS	HP:0001263	Global developmental delay
5805	PTS	HP:0001262	Excessive daytime somnolence
5805	PTS	HP:0002521	Hypsarrhythmia
5805	PTS	HP:0002527	Falls
5805	PTS	HP:0002509	Limb hypertonia
5805	PTS	HP:0001347	Hyperreflexia
5805	PTS	HP:0001332	Dystonia
5805	PTS	HP:0000007	Autosomal recessive inheritance
5805	PTS	HP:0001337	Tremor
5805	PTS	HP:0001336	Myoclonus
5805	PTS	HP:0001300	Parkinsonism
5805	PTS	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration
5805	PTS	HP:0008936	Axial hypotonia
5805	PTS	HP:0002033	Poor suck
5805	PTS	HP:0002015	Dysphagia
5805	PTS	HP:0002067	Bradykinesia
5805	PTS	HP:0002063	Rigidity
5805	PTS	HP:0002072	Chorea
5805	PTS	HP:0002071	Abnormality of extrapyramidal motor function
5805	PTS	HP:0002169	Clonus
5805	PTS	HP:0002179	Opisthotonus
5805	PTS	HP:0010553	Oculogyric crisis
5805	PTS	HP:0003593	Infantile onset
5805	PTS	HP:0011968	Feeding difficulties
5805	PTS	HP:0002344	Progressive neurologic deterioration
5805	PTS	HP:0002329	Drowsiness
5805	PTS	HP:0003623	Neonatal onset
5805	PTS	HP:0004923	Hyperphenylalaninemia
5805	PTS	HP:0006887	Intellectual disability, progressive
5805	PTS	HP:0001954	Recurrent fever
5805	PTS	HP:0000737	Irritability
5805	PTS	HP:0000750	Delayed speech and language development
5805	PTS	HP:0000716	Depression
5805	PTS	HP:0000711	Restlessness
5805	PTS	HP:0000713	Agitation
5805	PTS	HP:0000980	Pallor
5805	PTS	HP:0000252	Microcephaly
5805	PTS	HP:0001518	Small for gestational age
5805	PTS	HP:0000508	Ptosis
5813	PURA	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
5813	PURA	HP:0008572	External ear malformation
5813	PURA	HP:0010864	Intellectual disability, severe
5813	PURA	HP:0001270	Motor delay
5813	PURA	HP:0001250	Seizure
5813	PURA	HP:0001252	Hypotonia
5813	PURA	HP:0001251	Ataxia
5813	PURA	HP:0001249	Intellectual disability
5813	PURA	HP:0001263	Global developmental delay
5813	PURA	HP:0410263	Brain imaging abnormality
5813	PURA	HP:0002540	Inability to walk
5813	PURA	HP:0008872	Feeding difficulties in infancy
5813	PURA	HP:0001332	Dystonia
5813	PURA	HP:0001344	Absent speech
5813	PURA	HP:0000006	Autosomal dominant inheritance
5813	PURA	HP:0001336	Myoclonus
5813	PURA	HP:0001319	Neonatal hypotonia
5813	PURA	HP:0000194	Open mouth
5813	PURA	HP:0002791	Hypoventilation
5813	PURA	HP:0002002	Deep philtrum
5813	PURA	HP:0002007	Frontal bossing
5813	PURA	HP:0002098	Respiratory distress
5813	PURA	HP:0002093	Respiratory insufficiency
5813	PURA	HP:0002058	Myopathic facies
5813	PURA	HP:0010442	Polydactyly
5813	PURA	HP:0002136	Broad-based gait
5813	PURA	HP:0003429	CNS hypomyelination
5813	PURA	HP:0002104	Apnea
5813	PURA	HP:0002188	Delayed CNS myelination
5813	PURA	HP:0002267	Exaggerated startle response
5813	PURA	HP:0003593	Infantile onset
5813	PURA	HP:0011968	Feeding difficulties
5813	PURA	HP:0011951	Aspiration pneumonia
5813	PURA	HP:0002353	EEG abnormality
5813	PURA	HP:0100660	Dyskinesia
5813	PURA	HP:0010804	Tented upper lip vermilion
5813	PURA	HP:0003623	Neonatal onset
5813	PURA	HP:0006829	Severe muscular hypotonia
5813	PURA	HP:0000639	Nystagmus
5813	PURA	HP:0000637	Long palpebral fissure
5813	PURA	HP:0011344	Severe global developmental delay
5813	PURA	HP:0000739	Anxiety
5813	PURA	HP:0000736	Short attention span
5813	PURA	HP:0000750	Delayed speech and language development
5813	PURA	HP:0011463	Childhood onset
5813	PURA	HP:0003196	Short nose
5813	PURA	HP:0012899	Handgrip myotonia
5813	PURA	HP:0000286	Epicanthus
5813	PURA	HP:0000297	Facial hypotonia
5813	PURA	HP:0000293	Full cheeks
5813	PURA	HP:0000276	Long face
5813	PURA	HP:0000252	Microcephaly
5813	PURA	HP:0000219	Thin upper lip vermilion
5813	PURA	HP:0000218	High palate
5813	PURA	HP:0011097	Epileptic spasm
5813	PURA	HP:0011098	Speech apraxia
5813	PURA	HP:0011081	Incisor macrodontia
5813	PURA	HP:0006532	Recurrent pneumonia
5813	PURA	HP:0006481	Abnormality of primary teeth
5813	PURA	HP:0000369	Low-set ears
5813	PURA	HP:0000341	Narrow forehead
5813	PURA	HP:0000348	High forehead
5813	PURA	HP:0000347	Micrognathia
5813	PURA	HP:0000324	Facial asymmetry
5813	PURA	HP:0001627	Abnormal heart morphology
5813	PURA	HP:0011167	Focal tonic seizure
5813	PURA	HP:0005338	Sparse lateral eyebrow
5813	PURA	HP:0005280	Depressed nasal bridge
5813	PURA	HP:0000486	Strabismus
5813	PURA	HP:0000494	Downslanted palpebral fissures
5813	PURA	HP:0000463	Anteverted nares
5813	PURA	HP:0012448	Delayed myelination
5813	PURA	HP:0012444	Brain atrophy
5813	PURA	HP:0000455	Broad nasal tip
5813	PURA	HP:0000431	Wide nasal bridge
5813	PURA	HP:0000430	Underdeveloped nasal alae
5813	PURA	HP:0005487	Prominent metopic ridge
5813	PURA	HP:0000506	Telecanthus
5813	PURA	HP:0000508	Ptosis
5813	PURA	HP:0000582	Upslanted palpebral fissure
5813	PURA	HP:0011220	Prominent forehead
5813	PURA	HP:0000565	Esotropia
5813	PURA	HP:0000545	Myopia
5818	NECTIN1	HP:0003777	Pili torti
5818	NECTIN1	HP:0001250	Seizure
5818	NECTIN1	HP:0001249	Intellectual disability
5818	NECTIN1	HP:0006101	Finger syndactyly
5818	NECTIN1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5818	NECTIN1	HP:0002553	Highly arched eyebrow
5818	NECTIN1	HP:0000069	Abnormality of the ureter
5818	NECTIN1	HP:0000046	Small scrotum
5818	NECTIN1	HP:0008872	Feeding difficulties in infancy
5818	NECTIN1	HP:0410011	Abnormality of masticatory muscle
5818	NECTIN1	HP:0007477	Abnormal dermatoglyphics
5818	NECTIN1	HP:0001328	Specific learning disability
5818	NECTIN1	HP:0000007	Autosomal recessive inheritance
5818	NECTIN1	HP:0000164	Abnormality of the dentition
5818	NECTIN1	HP:0000175	Cleft palate
5818	NECTIN1	HP:0000135	Hypogonadism
5818	NECTIN1	HP:0006342	Peg-shaped maxillary lateral incisors
5818	NECTIN1	HP:0006332	Supernumerary maxillary incisor
5818	NECTIN1	HP:0006292	Abnormality of dental eruption
5818	NECTIN1	HP:0007598	Bilateral single transverse palmar creases
5818	NECTIN1	HP:0002793	Abnormal pattern of respiration
5818	NECTIN1	HP:0002744	Bilateral cleft lip and palate
5818	NECTIN1	HP:0002033	Poor suck
5818	NECTIN1	HP:0002015	Dysphagia
5818	NECTIN1	HP:0003307	Hyperlordosis
5818	NECTIN1	HP:0011800	Midface retrusion
5818	NECTIN1	HP:0002167	Abnormality of speech or vocalization
5818	NECTIN1	HP:0002164	Nail dysplasia
5818	NECTIN1	HP:0010554	Cutaneous finger syndactyly
5818	NECTIN1	HP:0003577	Congenital onset
5818	NECTIN1	HP:0002205	Recurrent respiratory infections
5818	NECTIN1	HP:0010719	Abnormality of hair texture
5818	NECTIN1	HP:0008404	Nail dystrophy
5818	NECTIN1	HP:0200153	Agenesis of lateral incisor
5818	NECTIN1	HP:0200136	Oral-pharyngeal dysphagia
5818	NECTIN1	HP:0002299	Brittle hair
5818	NECTIN1	HP:0002296	Progressive hypotrichosis
5818	NECTIN1	HP:0010669	Hypoplasia of the zygomatic bone
5818	NECTIN1	HP:0010621	Cutaneous syndactyly of toes
5818	NECTIN1	HP:0008391	Dystrophic fingernails
5818	NECTIN1	HP:0002353	EEG abnormality
5818	NECTIN1	HP:0009088	Speech articulation difficulties
5818	NECTIN1	HP:0000682	Abnormal dental enamel morphology
5818	NECTIN1	HP:0000674	Anodontia
5818	NECTIN1	HP:0000691	Microdontia
5818	NECTIN1	HP:0000689	Dental malocclusion
5818	NECTIN1	HP:0000653	Sparse eyelashes
5818	NECTIN1	HP:0000670	Carious teeth
5818	NECTIN1	HP:0000668	Hypodontia
5818	NECTIN1	HP:0000664	Synophrys
5818	NECTIN1	HP:0004395	Malnutrition
5818	NECTIN1	HP:0000750	Delayed speech and language development
5818	NECTIN1	HP:0000708	Atypical behavior
5818	NECTIN1	HP:0011438	Maternal teratogenic exposure
5818	NECTIN1	HP:0040115	Abnormal Eustachian tube morphology
5818	NECTIN1	HP:0100336	Bilateral cleft lip
5818	NECTIN1	HP:0100337	Bilateral cleft palate
5818	NECTIN1	HP:0100334	Unilateral cleft palate
5818	NECTIN1	HP:0100335	Non-midline cleft lip
5818	NECTIN1	HP:0010294	Palate fistula
5818	NECTIN1	HP:0045075	Sparse eyebrow
5818	NECTIN1	HP:0100267	Lip pit
5818	NECTIN1	HP:0000975	Hyperhidrosis
5818	NECTIN1	HP:0000972	Palmoplantar hyperkeratosis
5818	NECTIN1	HP:0000968	Ectodermal dysplasia
5818	NECTIN1	HP:0000966	Hypohidrosis
5818	NECTIN1	HP:0008070	Sparse hair
5818	NECTIN1	HP:0000288	Abnormality of the philtrum
5818	NECTIN1	HP:0001596	Alopecia
5818	NECTIN1	HP:0000271	Abnormality of the face
5818	NECTIN1	HP:0000272	Malar flattening
5818	NECTIN1	HP:0005105	Abnormal nasal morphology
5818	NECTIN1	HP:0001572	Macrodontia
5818	NECTIN1	HP:0000220	Velopharyngeal insufficiency
5818	NECTIN1	HP:0001561	Polyhydramnios
5818	NECTIN1	HP:0001537	Umbilical hernia
5818	NECTIN1	HP:0000202	Orofacial cleft
5818	NECTIN1	HP:0000204	Cleft upper lip
5818	NECTIN1	HP:0001518	Small for gestational age
5818	NECTIN1	HP:0011044	Abnormal number of permanent teeth
5818	NECTIN1	HP:0000389	Chronic otitis media
5818	NECTIN1	HP:0005216	Impaired mastication
5818	NECTIN1	HP:0001611	Hypernasal speech
5818	NECTIN1	HP:0006482	Abnormality of dental morphology
5818	NECTIN1	HP:0001696	Situs inversus totalis
5818	NECTIN1	HP:0000347	Micrognathia
5818	NECTIN1	HP:0031469	Low self esteem
5818	NECTIN1	HP:0000327	Hypoplasia of the maxilla
5818	NECTIN1	HP:0000325	Triangular face
5818	NECTIN1	HP:0006610	Wide intermamillary distance
5818	NECTIN1	HP:0005338	Sparse lateral eyebrow
5818	NECTIN1	HP:0005324	Disturbance of facial expression
5818	NECTIN1	HP:0000403	Recurrent otitis media
5818	NECTIN1	HP:0000405	Conductive hearing impairment
5818	NECTIN1	HP:0000400	Macrotia
5818	NECTIN1	HP:0000494	Downslanted palpebral fissures
5818	NECTIN1	HP:0001770	Toe syndactyly
5818	NECTIN1	HP:0000419	Abnormal nasal septum morphology
5818	NECTIN1	HP:0000411	Protruding ear
5818	NECTIN1	HP:0001762	Talipes equinovarus
5818	NECTIN1	HP:0000431	Wide nasal bridge
5818	NECTIN1	HP:0001810	Dystrophic toenail
5818	NECTIN1	HP:0000598	Abnormality of the ear
5824	PEX19	HP:0001133	Constriction of peripheral visual field
5824	PEX19	HP:0007305	CNS demyelination
5824	PEX19	HP:0008572	External ear malformation
5824	PEX19	HP:0009891	Underdeveloped supraorbital ridges
5824	PEX19	HP:0100806	Sepsis
5824	PEX19	HP:0001250	Seizure
5824	PEX19	HP:0001252	Hypotonia
5824	PEX19	HP:0001251	Ataxia
5824	PEX19	HP:0001263	Global developmental delay
5824	PEX19	HP:0001257	Spasticity
5824	PEX19	HP:0008665	Clitoral hypertrophy
5824	PEX19	HP:0001399	Hepatic failure
5824	PEX19	HP:0001392	Abnormality of the liver
5824	PEX19	HP:0000047	Hypospadias
5824	PEX19	HP:0001348	Brisk reflexes
5824	PEX19	HP:0001347	Hyperreflexia
5824	PEX19	HP:0000028	Cryptorchidism
5824	PEX19	HP:0008872	Feeding difficulties in infancy
5824	PEX19	HP:0000007	Autosomal recessive inheritance
5824	PEX19	HP:0000003	Multicystic kidney dysplasia
5824	PEX19	HP:0002652	Skeletal dysplasia
5824	PEX19	HP:0001315	Reduced tendon reflexes
5824	PEX19	HP:0000157	Abnormality of the tongue
5824	PEX19	HP:0000174	Abnormal palate morphology
5824	PEX19	HP:0001476	Delayed closure of the anterior fontanelle
5824	PEX19	HP:0007598	Bilateral single transverse palmar creases
5824	PEX19	HP:0000124	Renal tubular dysfunction
5824	PEX19	HP:0000126	Hydronephrosis
5824	PEX19	HP:0002024	Malabsorption
5824	PEX19	HP:0002021	Pyloric stenosis
5824	PEX19	HP:0002033	Poor suck
5824	PEX19	HP:0003323	Progressive muscle weakness
5824	PEX19	HP:0100543	Cognitive impairment
5824	PEX19	HP:0002093	Respiratory insufficiency
5824	PEX19	HP:0002059	Cerebral atrophy
5824	PEX19	HP:0005930	Abnormal epiphysis morphology
5824	PEX19	HP:0008167	Very long chain fatty acid accumulation
5824	PEX19	HP:0010461	Abnormality of the male genitalia
5824	PEX19	HP:0003455	Elevated circulating long chain fatty acid concentration
5824	PEX19	HP:0002126	Polymicrogyria
5824	PEX19	HP:0010571	Elevated circulating phytanic acid concentration
5824	PEX19	HP:0009553	Abnormality of the hairline
5824	PEX19	HP:0008207	Primary adrenal insufficiency
5824	PEX19	HP:0002269	Abnormality of neuronal migration
5824	PEX19	HP:0003577	Congenital onset
5824	PEX19	HP:0002240	Hepatomegaly
5824	PEX19	HP:0010655	Epiphyseal stippling
5824	PEX19	HP:0010628	Facial palsy
5824	PEX19	HP:0002376	Developmental regression
5824	PEX19	HP:0002353	EEG abnormality
5824	PEX19	HP:0001088	Brushfield spots
5824	PEX19	HP:0001081	Cholelithiasis
5824	PEX19	HP:0010759	Prominence of the premaxilla
5824	PEX19	HP:0006829	Severe muscular hypotonia
5824	PEX19	HP:0000639	Nystagmus
5824	PEX19	HP:0000648	Optic atrophy
5824	PEX19	HP:0000627	Posterior embryotoxon
5824	PEX19	HP:0000629	Periorbital fullness
5824	PEX19	HP:0001928	Abnormality of coagulation
5824	PEX19	HP:0001939	Abnormality of metabolism/homeostasis
5824	PEX19	HP:0011344	Severe global developmental delay
5824	PEX19	HP:0000662	Nyctalopia
5824	PEX19	HP:0004325	Decreased body weight
5824	PEX19	HP:0004322	Short stature
5824	PEX19	HP:0012736	Profound global developmental delay
5824	PEX19	HP:0100022	Abnormality of movement
5824	PEX19	HP:0000708	Atypical behavior
5824	PEX19	HP:0003103	Abnormal cortical bone morphology
5824	PEX19	HP:0030799	Scaphocephaly
5824	PEX19	HP:0000952	Jaundice
5824	PEX19	HP:0008064	Ichthyosis
5824	PEX19	HP:0011675	Arrhythmia
5824	PEX19	HP:0007703	Abnormality of retinal pigmentation
5824	PEX19	HP:0000286	Epicanthus
5824	PEX19	HP:0000260	Wide anterior fontanel
5824	PEX19	HP:0000256	Macrocephaly
5824	PEX19	HP:0000271	Abnormality of the face
5824	PEX19	HP:0000268	Dolichocephaly
5824	PEX19	HP:0000267	Cranial asymmetry
5824	PEX19	HP:0000238	Hydrocephalus
5824	PEX19	HP:0000252	Microcephaly
5824	PEX19	HP:0000218	High palate
5824	PEX19	HP:0001558	Decreased fetal movement
5824	PEX19	HP:0001522	Death in infancy
5824	PEX19	HP:0001508	Failure to thrive
5824	PEX19	HP:0001510	Growth delay
5824	PEX19	HP:0012368	Flat face
5824	PEX19	HP:0001612	Weak cry
5824	PEX19	HP:0002910	Elevated hepatic transaminase
5824	PEX19	HP:0002904	Hyperbilirubinemia
5824	PEX19	HP:0000365	Hearing impairment
5824	PEX19	HP:0000368	Low-set, posteriorly rotated ears
5824	PEX19	HP:0000348	High forehead
5824	PEX19	HP:0000347	Micrognathia
5824	PEX19	HP:0001643	Patent ductus arteriosus
5824	PEX19	HP:0000325	Triangular face
5824	PEX19	HP:0001629	Ventricular septal defect
5824	PEX19	HP:0001622	Premature birth
5824	PEX19	HP:0001638	Cardiomyopathy
5824	PEX19	HP:0001631	Atrial septal defect
5824	PEX19	HP:0007957	Corneal opacity
5824	PEX19	HP:0000407	Sensorineural hearing impairment
5824	PEX19	HP:0001719	Double outlet right ventricle
5824	PEX19	HP:0005280	Depressed nasal bridge
5824	PEX19	HP:0000486	Strabismus
5824	PEX19	HP:0000463	Anteverted nares
5824	PEX19	HP:0000474	Thickened nuchal skin fold
5824	PEX19	HP:0000448	Prominent nose
5824	PEX19	HP:0000431	Wide nasal bridge
5824	PEX19	HP:0005469	Flat occiput
5824	PEX19	HP:0000518	Cataract
5824	PEX19	HP:0000510	Rod-cone dystrophy
5824	PEX19	HP:0000508	Ptosis
5824	PEX19	HP:0000505	Visual impairment
5824	PEX19	HP:0000501	Glaucoma
5824	PEX19	HP:0000582	Upslanted palpebral fissure
5824	PEX19	HP:0000532	Abnormal chorioretinal morphology
5825	ABCD3	HP:0025196	Increased total iron binding capacity
5825	ABCD3	HP:0001399	Hepatic failure
5825	ABCD3	HP:0001395	Hepatic fibrosis
5825	ABCD3	HP:0000007	Autosomal recessive inheritance
5825	ABCD3	HP:0001409	Portal hypertension
5825	ABCD3	HP:0003593	Infantile onset
5825	ABCD3	HP:0002240	Hepatomegaly
5825	ABCD3	HP:0003676	Progressive
5825	ABCD3	HP:0003645	Prolonged partial thromboplastin time
5825	ABCD3	HP:0000952	Jaundice
5825	ABCD3	HP:0012202	Increased serum bile acid concentration
5825	ABCD3	HP:0006580	Portal fibrosis
5825	ABCD3	HP:0002910	Elevated hepatic transaminase
5825	ABCD3	HP:0002904	Hyperbilirubinemia
5825	ABCD3	HP:0001744	Splenomegaly
5825	ABCD3	HP:0001891	Iron deficiency anemia
5826	ABCD4	HP:0025116	Fetal distress
5826	ABCD4	HP:0001254	Lethargy
5826	ABCD4	HP:0001252	Hypotonia
5826	ABCD4	HP:0001263	Global developmental delay
5826	ABCD4	HP:0002533	Abnormal posturing
5826	ABCD4	HP:0000023	Inguinal hernia
5826	ABCD4	HP:0000028	Cryptorchidism
5826	ABCD4	HP:0000007	Autosomal recessive inheritance
5826	ABCD4	HP:0012120	Methylmalonic aciduria
5826	ABCD4	HP:0002789	Tachypnea
5826	ABCD4	HP:0002750	Delayed skeletal maturation
5826	ABCD4	HP:0002020	Gastroesophageal reflux
5826	ABCD4	HP:0002092	Pulmonary arterial hypertension
5826	ABCD4	HP:0002059	Cerebral atrophy
5826	ABCD4	HP:0002156	Homocystinuria
5826	ABCD4	HP:0002160	Hyperhomocystinemia
5826	ABCD4	HP:0003577	Congenital onset
5826	ABCD4	HP:0003524	Decreased methionine synthase activity
5826	ABCD4	HP:0011968	Feeding difficulties
5826	ABCD4	HP:0003658	Hypomethioninemia
5826	ABCD4	HP:0033443	Elevated circulating propionylcarnitine concentration
5826	ABCD4	HP:0003623	Neonatal onset
5826	ABCD4	HP:0003145	Decreased adenosylcobalamin
5826	ABCD4	HP:0000888	Horizontal ribs
5826	ABCD4	HP:0003223	Decreased methylcobalamin
5826	ABCD4	HP:0001591	Bell-shaped thorax
5826	ABCD4	HP:0001508	Failure to thrive
5826	ABCD4	HP:0001510	Growth delay
5826	ABCD4	HP:0002912	Methylmalonic acidemia
5826	ABCD4	HP:0001680	Coarctation of aorta
5826	ABCD4	HP:0000347	Micrognathia
5826	ABCD4	HP:0000316	Hypertelorism
5826	ABCD4	HP:0001643	Patent ductus arteriosus
5826	ABCD4	HP:0001631	Atrial septal defect
5826	ABCD4	HP:0006610	Wide intermamillary distance
5826	ABCD4	HP:0001895	Normochromic anemia
5826	ABCD4	HP:0001873	Thrombocytopenia
5826	ABCD4	HP:0001875	Neutropenia
5828	PEX2	HP:0025116	Fetal distress
5828	PEX2	HP:0001133	Constriction of peripheral visual field
5828	PEX2	HP:0008572	External ear malformation
5828	PEX2	HP:0009891	Underdeveloped supraorbital ridges
5828	PEX2	HP:0007227	Macrogyria
5828	PEX2	HP:0001290	Generalized hypotonia
5828	PEX2	HP:0001272	Cerebellar atrophy
5828	PEX2	HP:0001274	Agenesis of corpus callosum
5828	PEX2	HP:0001284	Areflexia
5828	PEX2	HP:0001254	Lethargy
5828	PEX2	HP:0001250	Seizure
5828	PEX2	HP:0001252	Hypotonia
5828	PEX2	HP:0001251	Ataxia
5828	PEX2	HP:0001249	Intellectual disability
5828	PEX2	HP:0001265	Hyporeflexia
5828	PEX2	HP:0001260	Dysarthria
5828	PEX2	HP:0001263	Global developmental delay
5828	PEX2	HP:0001257	Spasticity
5828	PEX2	HP:0002557	Hypoplastic nipples
5828	PEX2	HP:0008665	Clitoral hypertrophy
5828	PEX2	HP:0033643	Increased circulating very long-chain fatty acid concentration
5828	PEX2	HP:0003828	Variable expressivity
5828	PEX2	HP:0003819	Death in childhood
5828	PEX2	HP:0001396	Cholestasis
5828	PEX2	HP:0001399	Hepatic failure
5828	PEX2	HP:0001392	Abnormality of the liver
5828	PEX2	HP:0012043	Pendular nystagmus
5828	PEX2	HP:0001388	Joint laxity
5828	PEX2	HP:0000047	Hypospadias
5828	PEX2	HP:0001347	Hyperreflexia
5828	PEX2	HP:0000028	Cryptorchidism
5828	PEX2	HP:0008872	Feeding difficulties in infancy
5828	PEX2	HP:0000007	Autosomal recessive inheritance
5828	PEX2	HP:0000003	Multicystic kidney dysplasia
5828	PEX2	HP:0001337	Tremor
5828	PEX2	HP:0001310	Dysmetria
5828	PEX2	HP:0001302	Pachygyria
5828	PEX2	HP:0002652	Skeletal dysplasia
5828	PEX2	HP:0001321	Cerebellar hypoplasia
5828	PEX2	HP:0001319	Neonatal hypotonia
5828	PEX2	HP:0001315	Reduced tendon reflexes
5828	PEX2	HP:0000157	Abnormality of the tongue
5828	PEX2	HP:0000175	Cleft palate
5828	PEX2	HP:0000174	Abnormal palate morphology
5828	PEX2	HP:0025435	Increased circulating lactate dehydrogenase concentration
5828	PEX2	HP:0007598	Bilateral single transverse palmar creases
5828	PEX2	HP:0000113	Polycystic kidney dysplasia
5828	PEX2	HP:0000126	Hydronephrosis
5828	PEX2	HP:0000107	Renal cyst
5828	PEX2	HP:0001433	Hepatosplenomegaly
5828	PEX2	HP:0002764	Stippled chondral calcification
5828	PEX2	HP:0001410	Decreased liver function
5828	PEX2	HP:0001401	Intrahepatic biliary dysgenesis
5828	PEX2	HP:0002024	Malabsorption
5828	PEX2	HP:0002021	Pyloric stenosis
5828	PEX2	HP:0002033	Poor suck
5828	PEX2	HP:0003323	Progressive muscle weakness
5828	PEX2	HP:0100540	Palpebral edema
5828	PEX2	HP:0100543	Cognitive impairment
5828	PEX2	HP:0002093	Respiratory insufficiency
5828	PEX2	HP:0030948	Elevated gamma-glutamyltransferase level
5828	PEX2	HP:0005930	Abnormal epiphysis morphology
5828	PEX2	HP:0008167	Very long chain fatty acid accumulation
5828	PEX2	HP:0002126	Polymicrogyria
5828	PEX2	HP:0004734	Renal cortical microcysts
5828	PEX2	HP:0002197	Generalized-onset seizure
5828	PEX2	HP:0010571	Elevated circulating phytanic acid concentration
5828	PEX2	HP:0008207	Primary adrenal insufficiency
5828	PEX2	HP:0003593	Infantile onset
5828	PEX2	HP:0002269	Abnormality of neuronal migration
5828	PEX2	HP:0003577	Congenital onset
5828	PEX2	HP:0002240	Hepatomegaly
5828	PEX2	HP:0010655	Epiphyseal stippling
5828	PEX2	HP:0010628	Facial palsy
5828	PEX2	HP:0002376	Developmental regression
5828	PEX2	HP:0002353	EEG abnormality
5828	PEX2	HP:0003677	Slowly progressive
5828	PEX2	HP:0002317	Unsteady gait
5828	PEX2	HP:0001093	Optic nerve dysplasia
5828	PEX2	HP:0001088	Brushfield spots
5828	PEX2	HP:0003623	Neonatal onset
5828	PEX2	HP:0002305	Athetosis
5828	PEX2	HP:0006855	Cerebellar vermis atrophy
5828	PEX2	HP:0006829	Severe muscular hypotonia
5828	PEX2	HP:0000639	Nystagmus
5828	PEX2	HP:0000648	Optic atrophy
5828	PEX2	HP:0000627	Posterior embryotoxon
5828	PEX2	HP:0001928	Abnormality of coagulation
5828	PEX2	HP:0001939	Abnormality of metabolism/homeostasis
5828	PEX2	HP:0009046	Difficulty running
5828	PEX2	HP:0011344	Severe global developmental delay
5828	PEX2	HP:0000662	Nyctalopia
5828	PEX2	HP:0000657	Oculomotor apraxia
5828	PEX2	HP:0004322	Short stature
5828	PEX2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
5828	PEX2	HP:0031964	Elevated circulating alanine aminotransferase concentration
5828	PEX2	HP:0012736	Profound global developmental delay
5828	PEX2	HP:0100022	Abnormality of movement
5828	PEX2	HP:0000708	Atypical behavior
5828	PEX2	HP:0011463	Childhood onset
5828	PEX2	HP:0011421	Death in adolescence
5828	PEX2	HP:0003155	Elevated circulating alkaline phosphatase concentration
5828	PEX2	HP:0004474	Persistent open anterior fontanelle
5828	PEX2	HP:0000954	Single transverse palmar crease
5828	PEX2	HP:0000952	Jaundice
5828	PEX2	HP:0008064	Ichthyosis
5828	PEX2	HP:0011675	Arrhythmia
5828	PEX2	HP:0007703	Abnormality of retinal pigmentation
5828	PEX2	HP:0000286	Epicanthus
5828	PEX2	HP:0000260	Wide anterior fontanel
5828	PEX2	HP:0000256	Macrocephaly
5828	PEX2	HP:0000271	Abnormality of the face
5828	PEX2	HP:0000268	Dolichocephaly
5828	PEX2	HP:0007759	Opacification of the corneal stroma
5828	PEX2	HP:0000239	Large fontanelles
5828	PEX2	HP:0000252	Microcephaly
5828	PEX2	HP:0000218	High palate
5828	PEX2	HP:0001522	Death in infancy
5828	PEX2	HP:0031358	Vegetative state
5828	PEX2	HP:0001508	Failure to thrive
5828	PEX2	HP:0030048	Colpocephaly
5828	PEX2	HP:0001518	Small for gestational age
5828	PEX2	HP:0001511	Intrauterine growth retardation
5828	PEX2	HP:0012385	Camptodactyly
5828	PEX2	HP:0011039	Abnormal helix morphology
5828	PEX2	HP:0012368	Flat face
5828	PEX2	HP:0005180	Tricuspid regurgitation
5828	PEX2	HP:0002908	Conjugated hyperbilirubinemia
5828	PEX2	HP:0000365	Hearing impairment
5828	PEX2	HP:0000369	Low-set ears
5828	PEX2	HP:0000368	Low-set, posteriorly rotated ears
5828	PEX2	HP:0000348	High forehead
5828	PEX2	HP:0000347	Micrognathia
5828	PEX2	HP:0000316	Hypertelorism
5828	PEX2	HP:0000311	Round face
5828	PEX2	HP:0030148	Heart murmur
5828	PEX2	HP:0001659	Aortic regurgitation
5828	PEX2	HP:0001653	Mitral regurgitation
5828	PEX2	HP:0001629	Ventricular septal defect
5828	PEX2	HP:0001622	Premature birth
5828	PEX2	HP:0001638	Cardiomyopathy
5828	PEX2	HP:0002967	Cubitus valgus
5828	PEX2	HP:0001631	Atrial septal defect
5828	PEX2	HP:0007957	Corneal opacity
5828	PEX2	HP:0000407	Sensorineural hearing impairment
5828	PEX2	HP:0005280	Depressed nasal bridge
5828	PEX2	HP:0000486	Strabismus
5828	PEX2	HP:0001792	Small nail
5828	PEX2	HP:0000463	Anteverted nares
5828	PEX2	HP:0000474	Thickened nuchal skin fold
5828	PEX2	HP:0001744	Splenomegaly
5828	PEX2	HP:0001762	Talipes equinovarus
5828	PEX2	HP:0000431	Wide nasal bridge
5828	PEX2	HP:0001761	Pes cavus
5828	PEX2	HP:0005469	Flat occiput
5828	PEX2	HP:0000518	Cataract
5828	PEX2	HP:0000514	Slow saccadic eye movements
5828	PEX2	HP:0000510	Rod-cone dystrophy
5828	PEX2	HP:0001840	Metatarsus adductus
5828	PEX2	HP:0000508	Ptosis
5828	PEX2	HP:0000505	Visual impairment
5828	PEX2	HP:0000501	Glaucoma
5828	PEX2	HP:0000582	Upslanted palpebral fissure
5828	PEX2	HP:0000580	Pigmentary retinopathy
5828	PEX2	HP:0000556	Retinal dystrophy
5828	PEX2	HP:0000532	Abnormal chorioretinal morphology
5830	PEX5	HP:0001133	Constriction of peripheral visual field
5830	PEX5	HP:0008572	External ear malformation
5830	PEX5	HP:0009891	Underdeveloped supraorbital ridges
5830	PEX5	HP:0010864	Intellectual disability, severe
5830	PEX5	HP:0001290	Generalized hypotonia
5830	PEX5	HP:0001284	Areflexia
5830	PEX5	HP:0001250	Seizure
5830	PEX5	HP:0001252	Hypotonia
5830	PEX5	HP:0001251	Ataxia
5830	PEX5	HP:0001249	Intellectual disability
5830	PEX5	HP:0001265	Hyporeflexia
5830	PEX5	HP:0001263	Global developmental delay
5830	PEX5	HP:0001257	Spasticity
5830	PEX5	HP:0100864	Short femoral neck
5830	PEX5	HP:0008665	Clitoral hypertrophy
5830	PEX5	HP:0003819	Death in childhood
5830	PEX5	HP:0001399	Hepatic failure
5830	PEX5	HP:0001392	Abnormality of the liver
5830	PEX5	HP:0000047	Hypospadias
5830	PEX5	HP:0001347	Hyperreflexia
5830	PEX5	HP:0000028	Cryptorchidism
5830	PEX5	HP:0008872	Feeding difficulties in infancy
5830	PEX5	HP:0006150	Swan neck-like deformities of the fingers
5830	PEX5	HP:0001324	Muscle weakness
5830	PEX5	HP:0000007	Autosomal recessive inheritance
5830	PEX5	HP:0000003	Multicystic kidney dysplasia
5830	PEX5	HP:0002652	Skeletal dysplasia
5830	PEX5	HP:0001315	Reduced tendon reflexes
5830	PEX5	HP:0000157	Abnormality of the tongue
5830	PEX5	HP:0000175	Cleft palate
5830	PEX5	HP:0000174	Abnormal palate morphology
5830	PEX5	HP:0002705	High, narrow palate
5830	PEX5	HP:0007598	Bilateral single transverse palmar creases
5830	PEX5	HP:0012103	Abnormality of the mitochondrion
5830	PEX5	HP:0000113	Polycystic kidney dysplasia
5830	PEX5	HP:0000126	Hydronephrosis
5830	PEX5	HP:0002764	Stippled chondral calcification
5830	PEX5	HP:0001401	Intrahepatic biliary dysgenesis
5830	PEX5	HP:0003355	Aminoaciduria
5830	PEX5	HP:0002024	Malabsorption
5830	PEX5	HP:0002021	Pyloric stenosis
5830	PEX5	HP:0002033	Poor suck
5830	PEX5	HP:0002007	Frontal bossing
5830	PEX5	HP:0003323	Progressive muscle weakness
5830	PEX5	HP:0100540	Palpebral edema
5830	PEX5	HP:0100543	Cognitive impairment
5830	PEX5	HP:0002099	Asthma
5830	PEX5	HP:0002093	Respiratory insufficiency
5830	PEX5	HP:0011703	Sinus tachycardia
5830	PEX5	HP:0005930	Abnormal epiphysis morphology
5830	PEX5	HP:0008167	Very long chain fatty acid accumulation
5830	PEX5	HP:0009473	Joint contracture of the hand
5830	PEX5	HP:0003455	Elevated circulating long chain fatty acid concentration
5830	PEX5	HP:0002136	Broad-based gait
5830	PEX5	HP:0002126	Polymicrogyria
5830	PEX5	HP:0002104	Apnea
5830	PEX5	HP:0010571	Elevated circulating phytanic acid concentration
5830	PEX5	HP:0010544	Vertical nystagmus
5830	PEX5	HP:0008207	Primary adrenal insufficiency
5830	PEX5	HP:0002269	Abnormality of neuronal migration
5830	PEX5	HP:0003577	Congenital onset
5830	PEX5	HP:0002240	Hepatomegaly
5830	PEX5	HP:0002205	Recurrent respiratory infections
5830	PEX5	HP:0010655	Epiphyseal stippling
5830	PEX5	HP:0010628	Facial palsy
5830	PEX5	HP:0010696	Polar cataract
5830	PEX5	HP:0002376	Developmental regression
5830	PEX5	HP:0002353	EEG abnormality
5830	PEX5	HP:0009830	Peripheral neuropathy
5830	PEX5	HP:0001093	Optic nerve dysplasia
5830	PEX5	HP:0001088	Brushfield spots
5830	PEX5	HP:0006829	Severe muscular hypotonia
5830	PEX5	HP:0000639	Nystagmus
5830	PEX5	HP:0000648	Optic atrophy
5830	PEX5	HP:0000627	Posterior embryotoxon
5830	PEX5	HP:0001928	Abnormality of coagulation
5830	PEX5	HP:0001939	Abnormality of metabolism/homeostasis
5830	PEX5	HP:0011344	Severe global developmental delay
5830	PEX5	HP:0000662	Nyctalopia
5830	PEX5	HP:0001999	Abnormal facial shape
5830	PEX5	HP:0000666	Horizontal nystagmus
5830	PEX5	HP:0004322	Short stature
5830	PEX5	HP:0030680	Abnormality of cardiovascular system morphology
5830	PEX5	HP:0003025	Metaphyseal irregularity
5830	PEX5	HP:0003021	Metaphyseal cupping
5830	PEX5	HP:0012736	Profound global developmental delay
5830	PEX5	HP:0100022	Abnormality of movement
5830	PEX5	HP:0000708	Atypical behavior
5830	PEX5	HP:0000778	Hypoplasia of the thymus
5830	PEX5	HP:0005781	Contractures of the large joints
5830	PEX5	HP:0005792	Short humerus
5830	PEX5	HP:0000846	Adrenal insufficiency
5830	PEX5	HP:0003202	Skeletal muscle atrophy
5830	PEX5	HP:0000954	Single transverse palmar crease
5830	PEX5	HP:0000952	Jaundice
5830	PEX5	HP:0008064	Ichthyosis
5830	PEX5	HP:0011675	Arrhythmia
5830	PEX5	HP:0007703	Abnormality of retinal pigmentation
5830	PEX5	HP:0000286	Epicanthus
5830	PEX5	HP:0000260	Wide anterior fontanel
5830	PEX5	HP:0000262	Turricephaly
5830	PEX5	HP:0000256	Macrocephaly
5830	PEX5	HP:0000271	Abnormality of the face
5830	PEX5	HP:0000268	Dolichocephaly
5830	PEX5	HP:0007759	Opacification of the corneal stroma
5830	PEX5	HP:0002812	Coxa vara
5830	PEX5	HP:0005041	Irregular capital femoral epiphysis
5830	PEX5	HP:0000239	Large fontanelles
5830	PEX5	HP:0000252	Microcephaly
5830	PEX5	HP:0032660	Convulsive status epilepticus
5830	PEX5	HP:0000218	High palate
5830	PEX5	HP:0001522	Death in infancy
5830	PEX5	HP:0002868	Narrow iliac wing
5830	PEX5	HP:0001508	Failure to thrive
5830	PEX5	HP:0001511	Intrauterine growth retardation
5830	PEX5	HP:0001510	Growth delay
5830	PEX5	HP:0012385	Camptodactyly
5830	PEX5	HP:0011039	Abnormal helix morphology
5830	PEX5	HP:0012368	Flat face
5830	PEX5	HP:0002943	Thoracic scoliosis
5830	PEX5	HP:0000365	Hearing impairment
5830	PEX5	HP:0000369	Low-set ears
5830	PEX5	HP:0000368	Low-set, posteriorly rotated ears
5830	PEX5	HP:0000348	High forehead
5830	PEX5	HP:0000347	Micrognathia
5830	PEX5	HP:0000316	Hypertelorism
5830	PEX5	HP:0001629	Ventricular septal defect
5830	PEX5	HP:0001627	Abnormal heart morphology
5830	PEX5	HP:0001622	Premature birth
5830	PEX5	HP:0001638	Cardiomyopathy
5830	PEX5	HP:0002967	Cubitus valgus
5830	PEX5	HP:0007957	Corneal opacity
5830	PEX5	HP:0000407	Sensorineural hearing impairment
5830	PEX5	HP:0005280	Depressed nasal bridge
5830	PEX5	HP:0000486	Strabismus
5830	PEX5	HP:0000463	Anteverted nares
5830	PEX5	HP:0000474	Thickened nuchal skin fold
5830	PEX5	HP:0001762	Talipes equinovarus
5830	PEX5	HP:0000431	Wide nasal bridge
5830	PEX5	HP:0001761	Pes cavus
5830	PEX5	HP:0005469	Flat occiput
5830	PEX5	HP:0000518	Cataract
5830	PEX5	HP:0000519	Developmental cataract
5830	PEX5	HP:0000510	Rod-cone dystrophy
5830	PEX5	HP:0001840	Metatarsus adductus
5830	PEX5	HP:0000508	Ptosis
5830	PEX5	HP:0000505	Visual impairment
5830	PEX5	HP:0000501	Glaucoma
5830	PEX5	HP:0000582	Upslanted palpebral fissure
5830	PEX5	HP:0000580	Pigmentary retinopathy
5830	PEX5	HP:0011220	Prominent forehead
5830	PEX5	HP:0000565	Esotropia
5830	PEX5	HP:0000532	Abnormal chorioretinal morphology
5831	PYCR1	HP:0009904	Prominent ear helix
5831	PYCR1	HP:0001274	Agenesis of corpus callosum
5831	PYCR1	HP:0001256	Intellectual disability, mild
5831	PYCR1	HP:0001252	Hypotonia
5831	PYCR1	HP:0001249	Intellectual disability
5831	PYCR1	HP:0001263	Global developmental delay
5831	PYCR1	HP:0007392	Excessive wrinkled skin
5831	PYCR1	HP:0001374	Congenital hip dislocation
5831	PYCR1	HP:0001371	Flexion contracture
5831	PYCR1	HP:0001382	Joint hypermobility
5831	PYCR1	HP:0000023	Inguinal hernia
5831	PYCR1	HP:0000028	Cryptorchidism
5831	PYCR1	HP:0007495	Prematurely aged appearance
5831	PYCR1	HP:0000007	Autosomal recessive inheritance
5831	PYCR1	HP:0002650	Scoliosis
5831	PYCR1	HP:0002645	Wormian bones
5831	PYCR1	HP:0002757	Recurrent fractures
5831	PYCR1	HP:0002021	Pyloric stenosis
5831	PYCR1	HP:0002020	Gastroesophageal reflux
5831	PYCR1	HP:0002007	Frontal bossing
5831	PYCR1	HP:0003312	Abnormal form of the vertebral bodies
5831	PYCR1	HP:0011800	Midface retrusion
5831	PYCR1	HP:0005930	Abnormal epiphysis morphology
5831	PYCR1	HP:0011849	Abnormal bone ossification
5831	PYCR1	HP:0003577	Congenital onset
5831	PYCR1	HP:0002213	Fine hair
5831	PYCR1	HP:0100790	Hernia
5831	PYCR1	HP:0010648	Dermal translucency
5831	PYCR1	HP:0003510	Severe short stature
5831	PYCR1	HP:0001015	Prominent superficial veins
5831	PYCR1	HP:0100679	Lack of skin elasticity
5831	PYCR1	HP:0001087	Developmental glaucoma
5831	PYCR1	HP:0002305	Athetosis
5831	PYCR1	HP:0004948	Vascular tortuosity
5831	PYCR1	HP:0000601	Hypotelorism
5831	PYCR1	HP:0005692	Joint hyperflexibility
5831	PYCR1	HP:0034197	Third trimester onset
5831	PYCR1	HP:0000767	Pectus excavatum
5831	PYCR1	HP:0000768	Pectus carinatum
5831	PYCR1	HP:0000750	Delayed speech and language development
5831	PYCR1	HP:0003199	Decreased muscle mass
5831	PYCR1	HP:0034273	Premature sagging cheeks
5831	PYCR1	HP:0000926	Platyspondyly
5831	PYCR1	HP:0004568	Beaking of vertebral bodies
5831	PYCR1	HP:0004586	Biconcave vertebral bodies
5831	PYCR1	HP:0000978	Bruising susceptibility
5831	PYCR1	HP:0000974	Hyperextensible skin
5831	PYCR1	HP:0000973	Cutis laxa
5831	PYCR1	HP:0000963	Thin skin
5831	PYCR1	HP:0000939	Osteoporosis
5831	PYCR1	HP:0000938	Osteopenia
5831	PYCR1	HP:0045025	Narrow palpebral fissure
5831	PYCR1	HP:0008070	Sparse hair
5831	PYCR1	HP:0000272	Malar flattening
5831	PYCR1	HP:0002827	Hip dislocation
5831	PYCR1	HP:0000239	Large fontanelles
5831	PYCR1	HP:0000238	Hydrocephalus
5831	PYCR1	HP:0000252	Microcephaly
5831	PYCR1	HP:0001582	Redundant skin
5831	PYCR1	HP:0000218	High palate
5831	PYCR1	HP:0000233	Thin vermilion border
5831	PYCR1	HP:0001508	Failure to thrive
5831	PYCR1	HP:0001511	Intrauterine growth retardation
5831	PYCR1	HP:0001510	Growth delay
5831	PYCR1	HP:0006487	Bowing of the long bones
5831	PYCR1	HP:0000358	Posteriorly rotated ears
5831	PYCR1	HP:0000343	Long philtrum
5831	PYCR1	HP:0000337	Broad forehead
5831	PYCR1	HP:0000316	Hypertelorism
5831	PYCR1	HP:0002987	Elbow flexion contracture
5831	PYCR1	HP:0000325	Triangular face
5831	PYCR1	HP:0002953	Vertebral compression fracture
5831	PYCR1	HP:0000303	Mandibular prognathia
5831	PYCR1	HP:0000482	Microcornea
5831	PYCR1	HP:0000478	Abnormality of the eye
5831	PYCR1	HP:0000494	Downslanted palpebral fissures
5831	PYCR1	HP:0000490	Deeply set eye
5831	PYCR1	HP:0001763	Pes planus
5831	PYCR1	HP:0000418	Narrow nasal ridge
5831	PYCR1	HP:0000414	Bulbous nose
5831	PYCR1	HP:0000411	Protruding ear
5831	PYCR1	HP:0000430	Underdeveloped nasal alae
5831	PYCR1	HP:0000518	Cataract
5831	PYCR1	HP:0000504	Abnormality of vision
5831	PYCR1	HP:0000501	Glaucoma
5831	PYCR1	HP:0000592	Blue sclerae
5831	PYCR1	HP:0011220	Prominent forehead
5831	PYCR1	HP:0001883	Talipes
5832	ALDH18A1	HP:0001181	Adducted thumb
5832	ALDH18A1	HP:0002495	Impaired vibratory sensation
5832	ALDH18A1	HP:0002493	Upper motor neuron dysfunction
5832	ALDH18A1	HP:0002464	Spastic dysarthria
5832	ALDH18A1	HP:0002460	Distal muscle weakness
5832	ALDH18A1	HP:0002476	Primitive reflex
5832	ALDH18A1	HP:0002445	Tetraplegia
5832	ALDH18A1	HP:0025167	Fragmented elastic fibers in the dermis
5832	ALDH18A1	HP:0500163	Hypoornithinemia
5832	ALDH18A1	HP:0007256	Abnormal pyramidal sign
5832	ALDH18A1	HP:0500139	Hypoprolinemia
5832	ALDH18A1	HP:0007240	Progressive gait ataxia
5832	ALDH18A1	HP:0003745	Sporadic
5832	ALDH18A1	HP:0002425	Anarthria
5832	ALDH18A1	HP:0003700	Generalized amyotrophy
5832	ALDH18A1	HP:0007299	Dysfunction of lateral corticospinal tracts
5832	ALDH18A1	HP:0001290	Generalized hypotonia
5832	ALDH18A1	HP:0001270	Motor delay
5832	ALDH18A1	HP:0001288	Gait disturbance
5832	ALDH18A1	HP:0001250	Seizure
5832	ALDH18A1	HP:0001252	Hypotonia
5832	ALDH18A1	HP:0001249	Intellectual disability
5832	ALDH18A1	HP:0001260	Dysarthria
5832	ALDH18A1	HP:0001263	Global developmental delay
5832	ALDH18A1	HP:0001258	Spastic paraplegia
5832	ALDH18A1	HP:0001257	Spasticity
5832	ALDH18A1	HP:0002572	Episodic vomiting
5832	ALDH18A1	HP:0007394	Prominent superficial blood vessels
5832	ALDH18A1	HP:0007371	Corpus callosum atrophy
5832	ALDH18A1	HP:0031064	Impaired continence
5832	ALDH18A1	HP:0007350	Hyperreflexia in upper limbs
5832	ALDH18A1	HP:0002518	Abnormal periventricular white matter morphology
5832	ALDH18A1	HP:0002527	Falls
5832	ALDH18A1	HP:0002505	Loss of ambulation
5832	ALDH18A1	HP:0002500	Abnormal cerebral white matter morphology
5832	ALDH18A1	HP:0001374	Congenital hip dislocation
5832	ALDH18A1	HP:0001388	Joint laxity
5832	ALDH18A1	HP:0001382	Joint hypermobility
5832	ALDH18A1	HP:0000023	Inguinal hernia
5832	ALDH18A1	HP:0000020	Urinary incontinence
5832	ALDH18A1	HP:0000015	Bladder diverticulum
5832	ALDH18A1	HP:0001348	Brisk reflexes
5832	ALDH18A1	HP:0002677	Small foramen magnum
5832	ALDH18A1	HP:0000016	Urinary retention
5832	ALDH18A1	HP:0001347	Hyperreflexia
5832	ALDH18A1	HP:0000028	Cryptorchidism
5832	ALDH18A1	HP:0008897	Postnatal growth retardation
5832	ALDH18A1	HP:0007522	Increased number of skin folds
5832	ALDH18A1	HP:0007495	Prematurely aged appearance
5832	ALDH18A1	HP:0001328	Specific learning disability
5832	ALDH18A1	HP:0001324	Muscle weakness
5832	ALDH18A1	HP:0001344	Absent speech
5832	ALDH18A1	HP:0000012	Urinary urgency
5832	ALDH18A1	HP:0000007	Autosomal recessive inheritance
5832	ALDH18A1	HP:0001337	Tremor
5832	ALDH18A1	HP:0000006	Autosomal dominant inheritance
5832	ALDH18A1	HP:0002650	Scoliosis
5832	ALDH18A1	HP:0001317	Abnormal cerebellum morphology
5832	ALDH18A1	HP:0002645	Wormian bones
5832	ALDH18A1	HP:0002644	Abnormal pelvic girdle bone morphology
5832	ALDH18A1	HP:0001498	Carpal bone hypoplasia
5832	ALDH18A1	HP:0000160	Narrow mouth
5832	ALDH18A1	HP:0000122	Unilateral renal agenesis
5832	ALDH18A1	HP:0002751	Kyphoscoliosis
5832	ALDH18A1	HP:0002750	Delayed skeletal maturation
5832	ALDH18A1	HP:0002020	Gastroesophageal reflux
5832	ALDH18A1	HP:0002036	Hiatus hernia
5832	ALDH18A1	HP:0005989	Redundant neck skin
5832	ALDH18A1	HP:0002013	Vomiting
5832	ALDH18A1	HP:0002007	Frontal bossing
5832	ALDH18A1	HP:0005961	Hypoargininemia
5832	ALDH18A1	HP:0002097	Emphysema
5832	ALDH18A1	HP:0002066	Gait ataxia
5832	ALDH18A1	HP:0003394	Muscle spasm
5832	ALDH18A1	HP:0002064	Spastic gait
5832	ALDH18A1	HP:0002061	Lower limb spasticity
5832	ALDH18A1	HP:0100512	Low levels of vitamin D
5832	ALDH18A1	HP:0100515	Pollakisuria
5832	ALDH18A1	HP:0003477	Peripheral axonal neuropathy
5832	ALDH18A1	HP:0003487	Babinski sign
5832	ALDH18A1	HP:0002120	Cerebral cortical atrophy
5832	ALDH18A1	HP:0002127	Abnormal upper motor neuron morphology
5832	ALDH18A1	HP:0002110	Bronchiectasis
5832	ALDH18A1	HP:0003438	Absent Achilles reflex
5832	ALDH18A1	HP:0003419	Low back pain
5832	ALDH18A1	HP:0002166	Impaired vibration sensation in the lower limbs
5832	ALDH18A1	HP:0002174	Postural tremor
5832	ALDH18A1	HP:0002172	Postural instability
5832	ALDH18A1	HP:0010537	Wide cranial sutures
5832	ALDH18A1	HP:0003593	Infantile onset
5832	ALDH18A1	HP:0003572	Low plasma citrulline
5832	ALDH18A1	HP:0002256	Small bowel diverticula
5832	ALDH18A1	HP:0100790	Hernia
5832	ALDH18A1	HP:0002280	Enlarged cisterna magna
5832	ALDH18A1	HP:0010674	Abnormality of the curvature of the vertebral column
5832	ALDH18A1	HP:0007024	Pseudobulbar paralysis
5832	ALDH18A1	HP:0010648	Dermal translucency
5832	ALDH18A1	HP:0011968	Feeding difficulties
5832	ALDH18A1	HP:0011950	Bronchiolitis
5832	ALDH18A1	HP:0007083	Hyperactive patellar reflex
5832	ALDH18A1	HP:0002395	Lower limb hyperreflexia
5832	ALDH18A1	HP:0003693	Distal amyotrophy
5832	ALDH18A1	HP:0002371	Loss of speech
5832	ALDH18A1	HP:0002344	Progressive neurologic deterioration
5832	ALDH18A1	HP:0003676	Progressive
5832	ALDH18A1	HP:0002342	Intellectual disability, moderate
5832	ALDH18A1	HP:0002354	Memory impairment
5832	ALDH18A1	HP:0003677	Slowly progressive
5832	ALDH18A1	HP:0002322	Resting tremor
5832	ALDH18A1	HP:0010832	Abnormality of pain sensation
5832	ALDH18A1	HP:0100678	Premature skin wrinkling
5832	ALDH18A1	HP:0001084	Corneal arcus
5832	ALDH18A1	HP:0004969	Peripheral pulmonary artery stenosis
5832	ALDH18A1	HP:0002305	Athetosis
5832	ALDH18A1	HP:0003621	Juvenile onset
5832	ALDH18A1	HP:0004942	Aortic aneurysm
5832	ALDH18A1	HP:0007178	Motor polyneuropathy
5832	ALDH18A1	HP:0006827	Atrophy of the spinal cord
5832	ALDH18A1	HP:0011397	Abnormality of the dorsal column of the spinal cord
5832	ALDH18A1	HP:0006895	Lower limb hypertonia
5832	ALDH18A1	HP:0006886	Impaired distal vibration sensation
5832	ALDH18A1	HP:0000639	Nystagmus
5832	ALDH18A1	HP:0000601	Hypotelorism
5832	ALDH18A1	HP:0009027	Foot dorsiflexor weakness
5832	ALDH18A1	HP:0001987	Hyperammonemia
5832	ALDH18A1	HP:0001999	Abnormal facial shape
5832	ALDH18A1	HP:0000666	Horizontal nystagmus
5832	ALDH18A1	HP:0004322	Short stature
5832	ALDH18A1	HP:0006938	Impaired vibration sensation at ankles
5832	ALDH18A1	HP:0031993	Hoffmann sign
5832	ALDH18A1	HP:0005692	Joint hyperflexibility
5832	ALDH18A1	HP:0004373	Focal dystonia
5832	ALDH18A1	HP:0000767	Pectus excavatum
5832	ALDH18A1	HP:0000750	Delayed speech and language development
5832	ALDH18A1	HP:0000726	Dementia
5832	ALDH18A1	HP:0000729	Autistic behavior
5832	ALDH18A1	HP:0000709	Psychosis
5832	ALDH18A1	HP:0011462	Young adult onset
5832	ALDH18A1	HP:0003202	Skeletal muscle atrophy
5832	ALDH18A1	HP:0000974	Hyperextensible skin
5832	ALDH18A1	HP:0000973	Cutis laxa
5832	ALDH18A1	HP:0000963	Thin skin
5832	ALDH18A1	HP:0000938	Osteopenia
5832	ALDH18A1	HP:0008070	Sparse hair
5832	ALDH18A1	HP:0008075	Progressive pes cavus
5832	ALDH18A1	HP:0000270	Delayed cranial suture closure
5832	ALDH18A1	HP:0002816	Genu recurvatum
5832	ALDH18A1	HP:0002827	Hip dislocation
5832	ALDH18A1	HP:0000239	Large fontanelles
5832	ALDH18A1	HP:0000252	Microcephaly
5832	ALDH18A1	HP:0001582	Redundant skin
5832	ALDH18A1	HP:0000248	Brachycephaly
5832	ALDH18A1	HP:0001537	Umbilical hernia
5832	ALDH18A1	HP:0001508	Failure to thrive
5832	ALDH18A1	HP:0030051	Tip-toe gait
5832	ALDH18A1	HP:0001511	Intrauterine growth retardation
5832	ALDH18A1	HP:0001510	Growth delay
5832	ALDH18A1	HP:0000369	Low-set ears
5832	ALDH18A1	HP:0012330	Pyelonephritis
5832	ALDH18A1	HP:0000337	Broad forehead
5832	ALDH18A1	HP:0001680	Coarctation of aorta
5832	ALDH18A1	HP:0000316	Hypertelorism
5832	ALDH18A1	HP:0001659	Aortic regurgitation
5832	ALDH18A1	HP:0002987	Elbow flexion contracture
5832	ALDH18A1	HP:0001653	Mitral regurgitation
5832	ALDH18A1	HP:0000325	Triangular face
5832	ALDH18A1	HP:0001635	Congestive heart failure
5832	ALDH18A1	HP:0007957	Corneal opacity
5832	ALDH18A1	HP:0006698	Dilatation of the ventricular cavity
5832	ALDH18A1	HP:0000407	Sensorineural hearing impairment
5832	ALDH18A1	HP:0000400	Macrotia
5832	ALDH18A1	HP:0000486	Strabismus
5832	ALDH18A1	HP:0001763	Pes planus
5832	ALDH18A1	HP:0000418	Narrow nasal ridge
5832	ALDH18A1	HP:0000411	Protruding ear
5832	ALDH18A1	HP:0001762	Talipes equinovarus
5832	ALDH18A1	HP:0001761	Pes cavus
5832	ALDH18A1	HP:0000518	Cataract
5832	ALDH18A1	HP:0000519	Developmental cataract
5832	ALDH18A1	HP:0000508	Ptosis
5832	ALDH18A1	HP:0011220	Prominent forehead
5832	ALDH18A1	HP:0001884	Talipes calcaneovalgus
5832	ALDH18A1	HP:0012514	Lower limb pain
5832	ALDH18A1	HP:0000545	Myopia
5833	PCYT2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
5833	PCYT2	HP:0001249	Intellectual disability
5833	PCYT2	HP:0001257	Spasticity
5833	PCYT2	HP:0007359	Focal-onset seizure
5833	PCYT2	HP:0025336	Delayed ability to sit
5833	PCYT2	HP:0001347	Hyperreflexia
5833	PCYT2	HP:0000007	Autosomal recessive inheritance
5833	PCYT2	HP:0007663	Reduced visual acuity
5833	PCYT2	HP:0002059	Cerebral atrophy
5833	PCYT2	HP:0003487	Babinski sign
5833	PCYT2	HP:0002376	Developmental regression
5833	PCYT2	HP:0000639	Nystagmus
5833	PCYT2	HP:0000648	Optic atrophy
5833	PCYT2	HP:0031936	Delayed ability to walk
5833	PCYT2	HP:0000750	Delayed speech and language development
5836	PYGL	HP:0003710	Exercise-induced muscle cramps
5836	PYGL	HP:0001270	Motor delay
5836	PYGL	HP:0001252	Hypotonia
5836	PYGL	HP:0000093	Proteinuria
5836	PYGL	HP:0001395	Hepatic fibrosis
5836	PYGL	HP:0001394	Cirrhosis
5836	PYGL	HP:0000077	Abnormality of the kidney
5836	PYGL	HP:0008897	Postnatal growth retardation
5836	PYGL	HP:0000007	Autosomal recessive inheritance
5836	PYGL	HP:0001402	Hepatocellular carcinoma
5836	PYGL	HP:0030973	Postexertional symptom exacerbation
5836	PYGL	HP:0002155	Hypertriglyceridemia
5836	PYGL	HP:0002149	Hyperuricemia
5836	PYGL	HP:0002240	Hepatomegaly
5836	PYGL	HP:0011997	Postprandial hyperlactemia
5836	PYGL	HP:0002360	Sleep disturbance
5836	PYGL	HP:0004913	Intermittent lactic acidemia
5836	PYGL	HP:0001943	Hypoglycemia
5836	PYGL	HP:0001946	Ketosis
5836	PYGL	HP:0004322	Short stature
5836	PYGL	HP:0003077	Hyperlipidemia
5836	PYGL	HP:0000737	Irritability
5836	PYGL	HP:0003124	Hypercholesterolemia
5836	PYGL	HP:0003128	Lactic acidosis
5836	PYGL	HP:0000823	Delayed puberty
5836	PYGL	HP:0003270	Abdominal distention
5836	PYGL	HP:0000939	Osteoporosis
5836	PYGL	HP:0000938	Osteopenia
5836	PYGL	HP:0001531	Failure to thrive in infancy
5836	PYGL	HP:0001508	Failure to thrive
5836	PYGL	HP:0001510	Growth delay
5836	PYGL	HP:0006580	Portal fibrosis
5836	PYGL	HP:0006568	Increased hepatic glycogen content
5836	PYGL	HP:0002910	Elevated hepatic transaminase
5836	PYGL	HP:0001639	Hypertrophic cardiomyopathy
5837	PYGM	HP:0003738	Exercise-induced myalgia
5837	PYGM	HP:0003710	Exercise-induced muscle cramps
5837	PYGM	HP:0001324	Muscle weakness
5837	PYGM	HP:0000007	Autosomal recessive inheritance
5837	PYGM	HP:0008967	Exercise-induced muscle stiffness
5837	PYGM	HP:0030973	Postexertional symptom exacerbation
5837	PYGM	HP:0040319	Dark urine
5837	PYGM	HP:0002015	Dysphagia
5837	PYGM	HP:0002149	Hyperuricemia
5837	PYGM	HP:0003596	Middle age onset
5837	PYGM	HP:0003546	Exercise intolerance
5837	PYGM	HP:0008305	Exercise-induced myoglobinuria
5837	PYGM	HP:0003652	Recurrent myoglobinuria
5837	PYGM	HP:0003621	Juvenile onset
5837	PYGM	HP:0009073	Progressive proximal muscle weakness
5837	PYGM	HP:0012622	Chronic kidney disease
5837	PYGM	HP:0001919	Acute kidney injury
5837	PYGM	HP:0009051	Increased muscle glycogen content
5837	PYGM	HP:0009045	Exercise-induced rhabdomyolysis
5837	PYGM	HP:0011463	Childhood onset
5837	PYGM	HP:0003236	Elevated circulating creatine kinase concentration
5837	PYGM	HP:0003202	Skeletal muscle atrophy
5837	PYGM	HP:0003201	Rhabdomyolysis
5837	PYGM	HP:0002875	Exertional dyspnea
5837	PYGM	HP:0012378	Fatigue
5837	PYGM	HP:0005216	Impaired mastication
5837	PYGM	HP:0002913	Myoglobinuria
5837	PYGM	HP:0001649	Tachycardia
5837	PYGM	HP:0001639	Hypertrophic cardiomyopathy
5837	PYGM	HP:0030234	Highly elevated creatine kinase
5837	PYGM	HP:0030231	Glycogen accumulation in muscle fiber lysosomes
5859	QARS1	HP:0009879	Simplified gyral pattern
5859	QARS1	HP:0001252	Hypotonia
5859	QARS1	HP:0001347	Hyperreflexia
5859	QARS1	HP:0000007	Autosomal recessive inheritance
5859	QARS1	HP:0002079	Hypoplasia of the corpus callosum
5859	QARS1	HP:0002059	Cerebral atrophy
5859	QARS1	HP:0002119	Ventriculomegaly
5859	QARS1	HP:0002133	Status epilepticus
5859	QARS1	HP:0003429	CNS hypomyelination
5859	QARS1	HP:0003593	Infantile onset
5859	QARS1	HP:0003676	Progressive
5859	QARS1	HP:0003623	Neonatal onset
5859	QARS1	HP:0006855	Cerebellar vermis atrophy
5859	QARS1	HP:0000601	Hypotelorism
5859	QARS1	HP:0012736	Profound global developmental delay
5859	QARS1	HP:0000286	Epicanthus
5859	QARS1	HP:0000253	Progressive microcephaly
5859	QARS1	HP:0000252	Microcephaly
5859	QARS1	HP:0000218	High palate
5859	QARS1	HP:0000358	Posteriorly rotated ears
5859	QARS1	HP:0000369	Low-set ears
5859	QARS1	HP:0000341	Narrow forehead
5859	QARS1	HP:0000340	Sloping forehead
5859	QARS1	HP:0005280	Depressed nasal bridge
5859	QARS1	HP:0000431	Wide nasal bridge
5860	QDPR	HP:0003781	Excessive salivation
5860	QDPR	HP:0001276	Hypertonia
5860	QDPR	HP:0001250	Seizure
5860	QDPR	HP:0001252	Hypotonia
5860	QDPR	HP:0001249	Intellectual disability
5860	QDPR	HP:0001266	Choreoathetosis
5860	QDPR	HP:0001263	Global developmental delay
5860	QDPR	HP:0002514	Cerebral calcification
5860	QDPR	HP:0003828	Variable expressivity
5860	QDPR	HP:0001332	Dystonia
5860	QDPR	HP:0000007	Autosomal recessive inheritance
5860	QDPR	HP:0001337	Tremor
5860	QDPR	HP:0001336	Myoclonus
5860	QDPR	HP:0002015	Dysphagia
5860	QDPR	HP:0003593	Infantile onset
5860	QDPR	HP:0002344	Progressive neurologic deterioration
5860	QDPR	HP:0004923	Hyperphenylalaninemia
5860	QDPR	HP:0001954	Recurrent fever
5860	QDPR	HP:0000737	Irritability
5860	QDPR	HP:0000252	Microcephaly
5873	RAB27A	HP:0001276	Hypertonia
5873	RAB27A	HP:0001250	Seizure
5873	RAB27A	HP:0001257	Spasticity
5873	RAB27A	HP:0007443	Partial albinism
5873	RAB27A	HP:0003819	Death in childhood
5873	RAB27A	HP:0000007	Autosomal recessive inheritance
5873	RAB27A	HP:0012156	Hemophagocytosis
5873	RAB27A	HP:0001433	Hepatosplenomegaly
5873	RAB27A	HP:0002718	Recurrent bacterial infections
5873	RAB27A	HP:0002716	Lymphadenopathy
5873	RAB27A	HP:0002721	Immunodeficiency
5873	RAB27A	HP:0002017	Nausea and vomiting
5873	RAB27A	HP:0002113	Pulmonary infiltrates
5873	RAB27A	HP:0003593	Infantile onset
5873	RAB27A	HP:0002240	Hepatomegaly
5873	RAB27A	HP:0002220	Melanin pigment aggregation in hair shafts
5873	RAB27A	HP:0002218	Silver-gray hair
5873	RAB27A	HP:0002216	Premature graying of hair
5873	RAB27A	HP:0002344	Progressive neurologic deterioration
5873	RAB27A	HP:0001010	Hypopigmentation of the skin
5873	RAB27A	HP:0001008	Accumulation of melanosomes in melanocytes
5873	RAB27A	HP:0005599	Hypopigmentation of hair
5873	RAB27A	HP:0001945	Fever
5873	RAB27A	HP:0003077	Hyperlipidemia
5873	RAB27A	HP:0000952	Jaundice
5873	RAB27A	HP:0000967	Petechiae
5873	RAB27A	HP:0007730	Iris hypopigmentation
5873	RAB27A	HP:0002972	Reduced delayed hypersensitivity
5873	RAB27A	HP:0001744	Splenomegaly
5873	RAB27A	HP:0001876	Pancytopenia
5873	RAB27A	HP:0001875	Neutropenia
5879	RAC1	HP:0002465	Poor speech
5879	RAC1	HP:0010942	Echogenic intracardiac focus
5879	RAC1	HP:0001270	Motor delay
5879	RAC1	HP:0001250	Seizure
5879	RAC1	HP:0001252	Hypotonia
5879	RAC1	HP:0001249	Intellectual disability
5879	RAC1	HP:0001263	Global developmental delay
5879	RAC1	HP:0002553	Highly arched eyebrow
5879	RAC1	HP:0002518	Abnormal periventricular white matter morphology
5879	RAC1	HP:0001388	Joint laxity
5879	RAC1	HP:0000047	Hypospadias
5879	RAC1	HP:0001357	Plagiocephaly
5879	RAC1	HP:0000028	Cryptorchidism
5879	RAC1	HP:0008872	Feeding difficulties in infancy
5879	RAC1	HP:0001344	Absent speech
5879	RAC1	HP:0000006	Autosomal dominant inheritance
5879	RAC1	HP:0001320	Cerebellar vermis hypoplasia
5879	RAC1	HP:0002650	Scoliosis
5879	RAC1	HP:0001321	Cerebellar hypoplasia
5879	RAC1	HP:0000194	Open mouth
5879	RAC1	HP:0008947	Infantile muscular hypotonia
5879	RAC1	HP:0002786	Tracheobronchomalacia
5879	RAC1	HP:0002079	Hypoplasia of the corpus callosum
5879	RAC1	HP:0002119	Ventriculomegaly
5879	RAC1	HP:0002126	Polymicrogyria
5879	RAC1	HP:0002198	Dilated fourth ventricle
5879	RAC1	HP:0002195	Dysgenesis of the cerebellar vermis
5879	RAC1	HP:0003593	Infantile onset
5879	RAC1	HP:0002280	Enlarged cisterna magna
5879	RAC1	HP:0007033	Cerebellar dysplasia
5879	RAC1	HP:0011968	Feeding difficulties
5879	RAC1	HP:0002365	Hypoplasia of the brainstem
5879	RAC1	HP:0002360	Sleep disturbance
5879	RAC1	HP:0008527	Congenital sensorineural hearing impairment
5879	RAC1	HP:0200007	Abnormal size of the palpebral fissures
5879	RAC1	HP:0009765	Low hanging columella
5879	RAC1	HP:0003623	Neonatal onset
5879	RAC1	HP:0030515	Moderately reduced visual acuity
5879	RAC1	HP:0000637	Long palpebral fissure
5879	RAC1	HP:0001999	Abnormal facial shape
5879	RAC1	HP:0000664	Synophrys
5879	RAC1	HP:0006956	Lateral ventricle dilatation
5879	RAC1	HP:0003086	Acromesomelia
5879	RAC1	HP:0000752	Hyperactivity
5879	RAC1	HP:0000733	Abnormal repetitive mannerisms
5879	RAC1	HP:0000729	Autistic behavior
5879	RAC1	HP:0000708	Atypical behavior
5879	RAC1	HP:0011463	Childhood onset
5879	RAC1	HP:0011461	Fetal onset
5879	RAC1	HP:0000819	Diabetes mellitus
5879	RAC1	HP:0009237	Short 5th finger
5879	RAC1	HP:0000964	Eczema
5879	RAC1	HP:0000256	Macrocephaly
5879	RAC1	HP:0000252	Microcephaly
5879	RAC1	HP:0001537	Umbilical hernia
5879	RAC1	HP:0001511	Intrauterine growth retardation
5879	RAC1	HP:0006532	Recurrent pneumonia
5879	RAC1	HP:0000363	Abnormal earlobe morphology
5879	RAC1	HP:0000369	Low-set ears
5879	RAC1	HP:0001647	Bicuspid aortic valve
5879	RAC1	HP:0001643	Patent ductus arteriosus
5879	RAC1	HP:0001655	Patent foramen ovale
5879	RAC1	HP:0001629	Ventricular septal defect
5879	RAC1	HP:0001627	Abnormal heart morphology
5879	RAC1	HP:0000407	Sensorineural hearing impairment
5879	RAC1	HP:0000403	Recurrent otitis media
5879	RAC1	HP:0000463	Anteverted nares
5879	RAC1	HP:0000426	Prominent nasal bridge
5880	RAC2	HP:0100806	Sepsis
5880	RAC2	HP:0025289	Cervical lymphadenopathy
5880	RAC2	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
5880	RAC2	HP:0010976	B lymphocytopenia
5880	RAC2	HP:0000007	Autosomal recessive inheritance
5880	RAC2	HP:0000006	Autosomal dominant inheritance
5880	RAC2	HP:0032434	Delayed umbilical cord separation
5880	RAC2	HP:0032435	Neonatal omphalitis
5880	RAC2	HP:0008940	Generalized lymphadenopathy
5880	RAC2	HP:0002783	Recurrent lower respiratory tract infections
5880	RAC2	HP:0001433	Hepatosplenomegaly
5880	RAC2	HP:0002721	Immunodeficiency
5880	RAC2	HP:0002110	Bronchiectasis
5880	RAC2	HP:0011897	Neutrophilia
5880	RAC2	HP:0002205	Recurrent respiratory infections
5880	RAC2	HP:0002206	Pulmonary fibrosis
5880	RAC2	HP:0011990	Abnormality of neutrophil physiology
5880	RAC2	HP:0001058	Poor wound healing
5880	RAC2	HP:0001025	Urticaria
5880	RAC2	HP:0100658	Cellulitis
5880	RAC2	HP:0032170	Severe varicella zoster infection
5880	RAC2	HP:0012618	Urachal cyst
5880	RAC2	HP:0001972	Macrocytic anemia
5880	RAC2	HP:0001974	Leukocytosis
5880	RAC2	HP:0004315	Decreased circulating IgG level
5880	RAC2	HP:0004469	Chronic bronchitis
5880	RAC2	HP:0003203	Impaired oxidative burst
5880	RAC2	HP:0040238	Impaired neutrophil chemotaxis
5880	RAC2	HP:0001531	Failure to thrive in infancy
5880	RAC2	HP:0002840	Lymphadenitis
5880	RAC2	HP:0002850	Decreased circulating total IgM
5880	RAC2	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3
5880	RAC2	HP:0006510	Chronic pulmonary obstruction
5880	RAC2	HP:0005224	Rectal abscess
5880	RAC2	HP:0006532	Recurrent pneumonia
5880	RAC2	HP:0012312	Monocytopenia
5880	RAC2	HP:0000403	Recurrent otitis media
5880	RAC2	HP:0031545	Abnormally low T cell receptor excision circle level
5880	RAC2	HP:0011108	Recurrent sinusitis
5880	RAC2	HP:0005403	T lymphocytopenia
5880	RAC2	HP:0005400	Reduction of neutrophil motility
5880	RAC2	HP:0001888	Lymphopenia
5880	RAC2	HP:0001882	Leukopenia
5880	RAC2	HP:0001876	Pancytopenia
5880	RAC2	HP:0001875	Neutropenia
5881	RAC3	HP:0010864	Intellectual disability, severe
5881	RAC3	HP:0001274	Agenesis of corpus callosum
5881	RAC3	HP:0001250	Seizure
5881	RAC3	HP:0001263	Global developmental delay
5881	RAC3	HP:0001357	Plagiocephaly
5881	RAC3	HP:0000028	Cryptorchidism
5881	RAC3	HP:0000006	Autosomal dominant inheritance
5881	RAC3	HP:0002650	Scoliosis
5881	RAC3	HP:0011800	Midface retrusion
5881	RAC3	HP:0002079	Hypoplasia of the corpus callosum
5881	RAC3	HP:0002119	Ventriculomegaly
5881	RAC3	HP:0011968	Feeding difficulties
5881	RAC3	HP:0011320	Unilambdoid synostosis
5881	RAC3	HP:0003049	Ulnar deviation of the wrist
5881	RAC3	HP:0003196	Short nose
5881	RAC3	HP:0012815	Hypoplastic female external genitalia
5881	RAC3	HP:0000289	Broad philtrum
5881	RAC3	HP:0030084	Clinodactyly
5881	RAC3	HP:0000238	Hydrocephalus
5881	RAC3	HP:0000248	Brachycephaly
5881	RAC3	HP:0000343	Long philtrum
5881	RAC3	HP:0000347	Micrognathia
5881	RAC3	HP:0000316	Hypertelorism
5881	RAC3	HP:0000463	Anteverted nares
5881	RAC3	HP:0000431	Wide nasal bridge
5881	RAC3	HP:0000527	Long eyelashes
5881	RAC3	HP:0000520	Proptosis
5885	RAD21	HP:0001156	Brachydactyly
5885	RAD21	HP:0001159	Syndactyly
5885	RAD21	HP:0010880	Increased nuchal translucency
5885	RAD21	HP:0010864	Intellectual disability, severe
5885	RAD21	HP:0001276	Hypertonia
5885	RAD21	HP:0001250	Seizure
5885	RAD21	HP:0002580	Volvulus
5885	RAD21	HP:0001252	Hypotonia
5885	RAD21	HP:0001249	Intellectual disability
5885	RAD21	HP:0002578	Gastroparesis
5885	RAD21	HP:0001263	Global developmental delay
5885	RAD21	HP:0002557	Hypoplastic nipples
5885	RAD21	HP:0002566	Intestinal malrotation
5885	RAD21	HP:0008736	Hypoplasia of penis
5885	RAD21	HP:0100864	Short femoral neck
5885	RAD21	HP:0007360	Aplasia/Hypoplasia of the cerebellum
5885	RAD21	HP:0002553	Highly arched eyebrow
5885	RAD21	HP:0000089	Renal hypoplasia
5885	RAD21	HP:0000083	Renal insufficiency
5885	RAD21	HP:0000059	Hypoplastic labia majora
5885	RAD21	HP:0000076	Vesicoureteral reflux
5885	RAD21	HP:0001385	Hip dysplasia
5885	RAD21	HP:0001387	Joint stiffness
5885	RAD21	HP:0000047	Hypospadias
5885	RAD21	HP:0002678	Skull asymmetry
5885	RAD21	HP:0000028	Cryptorchidism
5885	RAD21	HP:0008872	Feeding difficulties in infancy
5885	RAD21	HP:0008850	Severe postnatal growth retardation
5885	RAD21	HP:0000007	Autosomal recessive inheritance
5885	RAD21	HP:0000003	Multicystic kidney dysplasia
5885	RAD21	HP:0000006	Autosomal dominant inheritance
5885	RAD21	HP:0033785	Enamel agenesis
5885	RAD21	HP:0012165	Oligodactyly
5885	RAD21	HP:0001488	Bilateral ptosis
5885	RAD21	HP:0000176	Submucous cleft hard palate
5885	RAD21	HP:0000175	Cleft palate
5885	RAD21	HP:0007665	Curly eyelashes
5885	RAD21	HP:0007598	Bilateral single transverse palmar creases
5885	RAD21	HP:0000130	Abnormality of the uterus
5885	RAD21	HP:0002750	Delayed skeletal maturation
5885	RAD21	HP:0002714	Downturned corners of mouth
5885	RAD21	HP:0002021	Pyloric stenosis
5885	RAD21	HP:0002020	Gastroesophageal reflux
5885	RAD21	HP:0004691	2-3 toe syndactyly
5885	RAD21	HP:0002027	Abdominal pain
5885	RAD21	HP:0030996	Megaduodenum
5885	RAD21	HP:0100580	Barrett esophagus
5885	RAD21	HP:0002120	Cerebral cortical atrophy
5885	RAD21	HP:0002119	Ventriculomegaly
5885	RAD21	HP:0009623	Proximal placement of thumb
5885	RAD21	HP:0002167	Abnormality of speech or vocalization
5885	RAD21	HP:0002162	Low posterior hairline
5885	RAD21	HP:0002270	Abnormality of the autonomic nervous system
5885	RAD21	HP:0002230	Generalized hirsutism
5885	RAD21	HP:0100771	Hypoperistalsis
5885	RAD21	HP:0100777	Exostoses
5885	RAD21	HP:0007018	Attention deficit hyperactivity disorder
5885	RAD21	HP:0002360	Sleep disturbance
5885	RAD21	HP:0009830	Peripheral neuropathy
5885	RAD21	HP:0200055	Small hand
5885	RAD21	HP:0008428	Vertebral clefting
5885	RAD21	HP:0006870	Lobar holoprosencephaly
5885	RAD21	HP:0004209	Clinodactyly of the 5th finger
5885	RAD21	HP:0000639	Nystagmus
5885	RAD21	HP:0001956	Truncal obesity
5885	RAD21	HP:0000601	Hypotelorism
5885	RAD21	HP:0010034	Short 1st metacarpal
5885	RAD21	HP:0000684	Delayed eruption of teeth
5885	RAD21	HP:0000687	Widely spaced teeth
5885	RAD21	HP:0000667	Phthisis bulbi
5885	RAD21	HP:0000664	Synophrys
5885	RAD21	HP:0004322	Short stature
5885	RAD21	HP:0030680	Abnormality of cardiovascular system morphology
5885	RAD21	HP:0004389	Intestinal pseudo-obstruction
5885	RAD21	HP:0003042	Elbow dislocation
5885	RAD21	HP:0000767	Pectus excavatum
5885	RAD21	HP:0000768	Pectus carinatum
5885	RAD21	HP:0000739	Anxiety
5885	RAD21	HP:0000717	Autism
5885	RAD21	HP:0000722	Compulsive behaviors
5885	RAD21	HP:0011461	Fetal onset
5885	RAD21	HP:0000776	Congenital diaphragmatic hernia
5885	RAD21	HP:0000786	Primary amenorrhea
5885	RAD21	HP:0003196	Short nose
5885	RAD21	HP:0000823	Delayed puberty
5885	RAD21	HP:0040071	Abnormal morphology of ulna
5885	RAD21	HP:0010300	Abnormally low-pitched voice
5885	RAD21	HP:0000954	Single transverse palmar crease
5885	RAD21	HP:0000965	Cutis marmorata
5885	RAD21	HP:0011682	Perimembranous ventricular septal defect
5885	RAD21	HP:0000294	Low anterior hairline
5885	RAD21	HP:0002812	Coxa vara
5885	RAD21	HP:0002827	Hip dislocation
5885	RAD21	HP:0000252	Microcephaly
5885	RAD21	HP:0000248	Brachycephaly
5885	RAD21	HP:0000220	Velopharyngeal insufficiency
5885	RAD21	HP:0000219	Thin upper lip vermilion
5885	RAD21	HP:0000218	High palate
5885	RAD21	HP:0000233	Thin vermilion border
5885	RAD21	HP:0001557	Prenatal movement abnormality
5885	RAD21	HP:0001508	Failure to thrive
5885	RAD21	HP:0001511	Intrauterine growth retardation
5885	RAD21	HP:0000381	Stapes ankylosis
5885	RAD21	HP:0012368	Flat face
5885	RAD21	HP:0002937	Hemivertebrae
5885	RAD21	HP:0005180	Tricuspid regurgitation
5885	RAD21	HP:0000369	Low-set ears
5885	RAD21	HP:0000368	Low-set, posteriorly rotated ears
5885	RAD21	HP:0000343	Long philtrum
5885	RAD21	HP:0000347	Micrognathia
5885	RAD21	HP:0002983	Micromelia
5885	RAD21	HP:0000319	Smooth philtrum
5885	RAD21	HP:0000316	Hypertelorism
5885	RAD21	HP:0001642	Pulmonic stenosis
5885	RAD21	HP:0002974	Radioulnar synostosis
5885	RAD21	HP:0001629	Ventricular septal defect
5885	RAD21	HP:0001622	Premature birth
5885	RAD21	HP:0001636	Tetralogy of Fallot
5885	RAD21	HP:0001631	Atrial septal defect
5885	RAD21	HP:0000498	Blepharitis
5885	RAD21	HP:0000407	Sensorineural hearing impairment
5885	RAD21	HP:0000405	Conductive hearing impairment
5885	RAD21	HP:0000400	Macrotia
5885	RAD21	HP:0005280	Depressed nasal bridge
5885	RAD21	HP:0000486	Strabismus
5885	RAD21	HP:0000482	Microcornea
5885	RAD21	HP:0000463	Anteverted nares
5885	RAD21	HP:0000470	Short neck
5885	RAD21	HP:0001770	Toe syndactyly
5885	RAD21	HP:0001773	Short foot
5885	RAD21	HP:0000453	Choanal atresia
5885	RAD21	HP:0000413	Atresia of the external auditory canal
5885	RAD21	HP:0000431	Wide nasal bridge
5885	RAD21	HP:0000518	Cataract
5885	RAD21	HP:0000527	Long eyelashes
5885	RAD21	HP:0000508	Ptosis
5885	RAD21	HP:0000501	Glaucoma
5885	RAD21	HP:0000582	Upslanted palpebral fissure
5885	RAD21	HP:0000574	Thick eyebrow
5885	RAD21	HP:0001883	Talipes
5885	RAD21	HP:0000545	Myopia
5888	RAD51	HP:0001172	Abnormal thumb morphology
5888	RAD51	HP:0002492	Morphological abnormality of the corticospinal tract
5888	RAD51	HP:0025101	Dysgenesis of the hippocampus
5888	RAD51	HP:0001199	Triphalangeal thumb
5888	RAD51	HP:0008572	External ear malformation
5888	RAD51	HP:0002414	Spina bifida
5888	RAD51	HP:0001274	Agenesis of corpus callosum
5888	RAD51	HP:0001256	Intellectual disability, mild
5888	RAD51	HP:0001249	Intellectual disability
5888	RAD51	HP:0001263	Global developmental delay
5888	RAD51	HP:0002575	Tracheoesophageal fistula
5888	RAD51	HP:0006101	Finger syndactyly
5888	RAD51	HP:0007400	Irregular hyperpigmentation
5888	RAD51	HP:0100867	Duodenal stenosis
5888	RAD51	HP:0008678	Renal hypoplasia/aplasia
5888	RAD51	HP:0003829	Typified by incomplete penetrance
5888	RAD51	HP:0000083	Renal insufficiency
5888	RAD51	HP:0001392	Abnormality of the liver
5888	RAD51	HP:0000079	Abnormality of the urinary system
5888	RAD51	HP:0000072	Hydroureter
5888	RAD51	HP:0012041	Decreased fertility in males
5888	RAD51	HP:0000044	Hypogonadotropic hypogonadism
5888	RAD51	HP:0000047	Hypospadias
5888	RAD51	HP:0001347	Hyperreflexia
5888	RAD51	HP:0000035	Abnormal testis morphology
5888	RAD51	HP:0000028	Cryptorchidism
5888	RAD51	HP:0000027	Azoospermia
5888	RAD51	HP:0007565	Multiple cafe-au-lait spots
5888	RAD51	HP:0002664	Neoplasm
5888	RAD51	HP:0001328	Specific learning disability
5888	RAD51	HP:0000010	Recurrent urinary tract infections
5888	RAD51	HP:0001335	Bimanual synkinesia
5888	RAD51	HP:0000006	Autosomal dominant inheritance
5888	RAD51	HP:0002650	Scoliosis
5888	RAD51	HP:0000175	Cleft palate
5888	RAD51	HP:0012125	Prostate cancer
5888	RAD51	HP:0000135	Hypogonadism
5888	RAD51	HP:0006265	Aplasia/Hypoplasia of fingers
5888	RAD51	HP:0000130	Abnormality of the uterus
5888	RAD51	HP:0001428	Somatic mutation
5888	RAD51	HP:0002023	Anal atresia
5888	RAD51	HP:0003326	Myalgia
5888	RAD51	HP:0002007	Frontal bossing
5888	RAD51	HP:0100542	Abnormal localization of kidney
5888	RAD51	HP:0003388	Easy fatigability
5888	RAD51	HP:0100587	Abnormal preputium morphology
5888	RAD51	HP:0010469	Absent testis
5888	RAD51	HP:0002119	Ventriculomegaly
5888	RAD51	HP:0002245	Meckel diverticulum
5888	RAD51	HP:0002251	Aganglionic megacolon
5888	RAD51	HP:0100760	Clubbing of toes
5888	RAD51	HP:0007010	Poor fine motor coordination
5888	RAD51	HP:0001053	Hypopigmented skin patches
5888	RAD51	HP:0001000	Abnormality of skin pigmentation
5888	RAD51	HP:0100615	Ovarian neoplasm
5888	RAD51	HP:0002312	Clumsiness
5888	RAD51	HP:0005528	Bone marrow hypocellularity
5888	RAD51	HP:0004209	Clinodactyly of the 5th finger
5888	RAD51	HP:0005522	Pyridoxine-responsive sideroblastic anemia
5888	RAD51	HP:0006824	Cranial nerve paralysis
5888	RAD51	HP:0000639	Nystagmus
5888	RAD51	HP:0001903	Anemia
5888	RAD51	HP:0012639	Abnormal nervous system morphology
5888	RAD51	HP:0004322	Short stature
5888	RAD51	HP:0003002	Breast carcinoma
5888	RAD51	HP:0003022	Hypoplasia of the ulna
5888	RAD51	HP:0004349	Reduced bone mineral density
5888	RAD51	HP:0012745	Short palpebral fissure
5888	RAD51	HP:0100021	Cerebral palsy
5888	RAD51	HP:0100022	Abnormality of movement
5888	RAD51	HP:0100026	Arteriovenous malformation
5888	RAD51	HP:0000864	Abnormality of the hypothalamus-pituitary axis
5888	RAD51	HP:0000813	Bicornuate uterus
5888	RAD51	HP:0010293	Aplasia/Hypoplasia of the uvula
5888	RAD51	HP:0040071	Abnormal morphology of ulna
5888	RAD51	HP:0003220	Abnormality of chromosome stability
5888	RAD51	HP:0008053	Aplasia/Hypoplasia of the iris
5888	RAD51	HP:0000286	Epicanthus
5888	RAD51	HP:0000268	Dolichocephaly
5888	RAD51	HP:0002817	Abnormality of the upper limb
5888	RAD51	HP:0002827	Hip dislocation
5888	RAD51	HP:0002823	Abnormality of femur morphology
5888	RAD51	HP:0000238	Hydrocephalus
5888	RAD51	HP:0000252	Microcephaly
5888	RAD51	HP:0012210	Abnormal renal morphology
5888	RAD51	HP:0000218	High palate
5888	RAD51	HP:0002894	Neoplasm of the pancreas
5888	RAD51	HP:0001562	Oligohydramnios
5888	RAD51	HP:0002861	Melanoma
5888	RAD51	HP:0001537	Umbilical hernia
5888	RAD51	HP:0002863	Myelodysplasia
5888	RAD51	HP:0001511	Intrauterine growth retardation
5888	RAD51	HP:0001510	Growth delay
5888	RAD51	HP:0006501	Aplasia/Hypoplasia of the radius
5888	RAD51	HP:0011027	Abnormal fallopian tube morphology
5888	RAD51	HP:0007874	Almond-shaped palpebral fissure
5888	RAD51	HP:0002949	Fused cervical vertebrae
5888	RAD51	HP:0000365	Hearing impairment
5888	RAD51	HP:0000364	Hearing abnormality
5888	RAD51	HP:0001671	Abnormal cardiac septum morphology
5888	RAD51	HP:0000340	Sloping forehead
5888	RAD51	HP:0001679	Abnormal aortic morphology
5888	RAD51	HP:0000347	Micrognathia
5888	RAD51	HP:0000316	Hypertelorism
5888	RAD51	HP:0001646	Abnormal aortic valve morphology
5888	RAD51	HP:0001643	Patent ductus arteriosus
5888	RAD51	HP:0000324	Facial asymmetry
5888	RAD51	HP:0001639	Hypertrophic cardiomyopathy
5888	RAD51	HP:0001636	Tetralogy of Fallot
5888	RAD51	HP:0001631	Atrial septal defect
5888	RAD51	HP:0005344	Abnormal carotid artery morphology
5888	RAD51	HP:0000483	Astigmatism
5888	RAD51	HP:0000486	Strabismus
5888	RAD51	HP:0000478	Abnormality of the eye
5888	RAD51	HP:0000492	Abnormal eyelid morphology
5888	RAD51	HP:0001770	Toe syndactyly
5888	RAD51	HP:0001763	Pes planus
5888	RAD51	HP:0000453	Choanal atresia
5888	RAD51	HP:0001760	Abnormal foot morphology
5888	RAD51	HP:0030406	Primary peritoneal carcinoma
5888	RAD51	HP:0000518	Cataract
5888	RAD51	HP:0000520	Proptosis
5888	RAD51	HP:0001824	Weight loss
5888	RAD51	HP:0000508	Ptosis
5888	RAD51	HP:0000505	Visual impairment
5888	RAD51	HP:0000504	Abnormality of vision
5888	RAD51	HP:0000582	Upslanted palpebral fissure
5888	RAD51	HP:0000568	Microphthalmia
5888	RAD51	HP:0001871	Abnormality of blood and blood-forming tissues
5888	RAD51	HP:0001882	Leukopenia
5888	RAD51	HP:0001873	Thrombocytopenia
5889	RAD51C	HP:0001172	Abnormal thumb morphology
5889	RAD51C	HP:0003774	Stage 5 chronic kidney disease
5889	RAD51C	HP:0001199	Triphalangeal thumb
5889	RAD51C	HP:0008572	External ear malformation
5889	RAD51C	HP:0002414	Spina bifida
5889	RAD51C	HP:0001249	Intellectual disability
5889	RAD51C	HP:0001263	Global developmental delay
5889	RAD51C	HP:0002575	Tracheoesophageal fistula
5889	RAD51C	HP:0001245	Small thenar eminence
5889	RAD51C	HP:0006101	Finger syndactyly
5889	RAD51C	HP:0007400	Irregular hyperpigmentation
5889	RAD51C	HP:0100867	Duodenal stenosis
5889	RAD51C	HP:0008678	Renal hypoplasia/aplasia
5889	RAD51C	HP:0003811	Neonatal death
5889	RAD51C	HP:0000083	Renal insufficiency
5889	RAD51C	HP:0001392	Abnormality of the liver
5889	RAD51C	HP:0000079	Abnormality of the urinary system
5889	RAD51C	HP:0000072	Hydroureter
5889	RAD51C	HP:0012041	Decreased fertility in males
5889	RAD51C	HP:0000047	Hypospadias
5889	RAD51C	HP:0025318	Ovarian carcinoma
5889	RAD51C	HP:0001347	Hyperreflexia
5889	RAD51C	HP:0000035	Abnormal testis morphology
5889	RAD51C	HP:0000028	Cryptorchidism
5889	RAD51C	HP:0000027	Azoospermia
5889	RAD51C	HP:0007565	Multiple cafe-au-lait spots
5889	RAD51C	HP:0002664	Neoplasm
5889	RAD51C	HP:0000010	Recurrent urinary tract infections
5889	RAD51C	HP:0000007	Autosomal recessive inheritance
5889	RAD51C	HP:0002650	Scoliosis
5889	RAD51C	HP:0000175	Cleft palate
5889	RAD51C	HP:0012125	Prostate cancer
5889	RAD51C	HP:0000135	Hypogonadism
5889	RAD51C	HP:0006265	Aplasia/Hypoplasia of fingers
5889	RAD51C	HP:0000130	Abnormality of the uterus
5889	RAD51C	HP:0000126	Hydronephrosis
5889	RAD51C	HP:0000107	Renal cyst
5889	RAD51C	HP:0002023	Anal atresia
5889	RAD51C	HP:0002007	Frontal bossing
5889	RAD51C	HP:0100542	Abnormal localization of kidney
5889	RAD51C	HP:0100587	Abnormal preputium morphology
5889	RAD51C	HP:0010469	Absent testis
5889	RAD51C	HP:0002119	Ventriculomegaly
5889	RAD51C	HP:0009623	Proximal placement of thumb
5889	RAD51C	HP:0002245	Meckel diverticulum
5889	RAD51C	HP:0003577	Congenital onset
5889	RAD51C	HP:0002251	Aganglionic megacolon
5889	RAD51C	HP:0100760	Clubbing of toes
5889	RAD51C	HP:0025023	Rectal atresia
5889	RAD51C	HP:0001053	Hypopigmented skin patches
5889	RAD51C	HP:0001000	Abnormality of skin pigmentation
5889	RAD51C	HP:0100615	Ovarian neoplasm
5889	RAD51C	HP:0009777	Absent thumb
5889	RAD51C	HP:0009778	Short thumb
5889	RAD51C	HP:0004209	Clinodactyly of the 5th finger
5889	RAD51C	HP:0005522	Pyridoxine-responsive sideroblastic anemia
5889	RAD51C	HP:0006824	Cranial nerve paralysis
5889	RAD51C	HP:0000639	Nystagmus
5889	RAD51C	HP:0001903	Anemia
5889	RAD51C	HP:0012639	Abnormal nervous system morphology
5889	RAD51C	HP:0004322	Short stature
5889	RAD51C	HP:0003002	Breast carcinoma
5889	RAD51C	HP:0003022	Hypoplasia of the ulna
5889	RAD51C	HP:0004349	Reduced bone mineral density
5889	RAD51C	HP:0012745	Short palpebral fissure
5889	RAD51C	HP:0100026	Arteriovenous malformation
5889	RAD51C	HP:0000864	Abnormality of the hypothalamus-pituitary axis
5889	RAD51C	HP:0000813	Bicornuate uterus
5889	RAD51C	HP:0010293	Aplasia/Hypoplasia of the uvula
5889	RAD51C	HP:0040012	Chromosome breakage
5889	RAD51C	HP:0040071	Abnormal morphology of ulna
5889	RAD51C	HP:0003241	External genital hypoplasia
5889	RAD51C	HP:0003220	Abnormality of chromosome stability
5889	RAD51C	HP:0008053	Aplasia/Hypoplasia of the iris
5889	RAD51C	HP:0000286	Epicanthus
5889	RAD51C	HP:0000268	Dolichocephaly
5889	RAD51C	HP:0002817	Abnormality of the upper limb
5889	RAD51C	HP:0002827	Hip dislocation
5889	RAD51C	HP:0002823	Abnormality of femur morphology
5889	RAD51C	HP:0000238	Hydrocephalus
5889	RAD51C	HP:0000252	Microcephaly
5889	RAD51C	HP:0012210	Abnormal renal morphology
5889	RAD51C	HP:0000218	High palate
5889	RAD51C	HP:0002894	Neoplasm of the pancreas
5889	RAD51C	HP:0001562	Oligohydramnios
5889	RAD51C	HP:0002861	Melanoma
5889	RAD51C	HP:0001522	Death in infancy
5889	RAD51C	HP:0001537	Umbilical hernia
5889	RAD51C	HP:0002863	Myelodysplasia
5889	RAD51C	HP:0001511	Intrauterine growth retardation
5889	RAD51C	HP:0001510	Growth delay
5889	RAD51C	HP:0006501	Aplasia/Hypoplasia of the radius
5889	RAD51C	HP:0011027	Abnormal fallopian tube morphology
5889	RAD51C	HP:0005268	Miscarriage
5889	RAD51C	HP:0007874	Almond-shaped palpebral fissure
5889	RAD51C	HP:0000365	Hearing impairment
5889	RAD51C	HP:0000364	Hearing abnormality
5889	RAD51C	HP:0001671	Abnormal cardiac septum morphology
5889	RAD51C	HP:0000340	Sloping forehead
5889	RAD51C	HP:0001679	Abnormal aortic morphology
5889	RAD51C	HP:0000347	Micrognathia
5889	RAD51C	HP:0000316	Hypertelorism
5889	RAD51C	HP:0001646	Abnormal aortic valve morphology
5889	RAD51C	HP:0001643	Patent ductus arteriosus
5889	RAD51C	HP:0002984	Hypoplasia of the radius
5889	RAD51C	HP:0000324	Facial asymmetry
5889	RAD51C	HP:0001627	Abnormal heart morphology
5889	RAD51C	HP:0001639	Hypertrophic cardiomyopathy
5889	RAD51C	HP:0001636	Tetralogy of Fallot
5889	RAD51C	HP:0001631	Atrial septal defect
5889	RAD51C	HP:0005344	Abnormal carotid artery morphology
5889	RAD51C	HP:0000483	Astigmatism
5889	RAD51C	HP:0000486	Strabismus
5889	RAD51C	HP:0000478	Abnormality of the eye
5889	RAD51C	HP:0000492	Abnormal eyelid morphology
5889	RAD51C	HP:0001770	Toe syndactyly
5889	RAD51C	HP:0001763	Pes planus
5889	RAD51C	HP:0000453	Choanal atresia
5889	RAD51C	HP:0001760	Abnormal foot morphology
5889	RAD51C	HP:0030406	Primary peritoneal carcinoma
5889	RAD51C	HP:0000518	Cataract
5889	RAD51C	HP:0000520	Proptosis
5889	RAD51C	HP:0001824	Weight loss
5889	RAD51C	HP:0000508	Ptosis
5889	RAD51C	HP:0000505	Visual impairment
5889	RAD51C	HP:0000504	Abnormality of vision
5889	RAD51C	HP:0000582	Upslanted palpebral fissure
5889	RAD51C	HP:0000568	Microphthalmia
5889	RAD51C	HP:0001871	Abnormality of blood and blood-forming tissues
5889	RAD51C	HP:0001882	Leukopenia
5889	RAD51C	HP:0001873	Thrombocytopenia
5892	RAD51D	HP:0012125	Prostate cancer
5892	RAD51D	HP:0100615	Ovarian neoplasm
5892	RAD51D	HP:0003002	Breast carcinoma
5892	RAD51D	HP:0002894	Neoplasm of the pancreas
5892	RAD51D	HP:0002861	Melanoma
5892	RAD51D	HP:0011027	Abnormal fallopian tube morphology
5892	RAD51D	HP:0030406	Primary peritoneal carcinoma
5894	RAF1	HP:0001156	Brachydactyly
5894	RAF1	HP:0008625	Severe sensorineural hearing impairment
5894	RAF1	HP:0003764	Nevus
5894	RAF1	HP:0001256	Intellectual disability, mild
5894	RAF1	HP:0001252	Hypotonia
5894	RAF1	HP:0001249	Intellectual disability
5894	RAF1	HP:0001260	Dysarthria
5894	RAF1	HP:0001263	Global developmental delay
5894	RAF1	HP:0007392	Excessive wrinkled skin
5894	RAF1	HP:0000078	Abnormality of the genital system
5894	RAF1	HP:0000044	Hypogonadotropic hypogonadism
5894	RAF1	HP:0000047	Hypospadias
5894	RAF1	HP:0000028	Cryptorchidism
5894	RAF1	HP:0008872	Feeding difficulties in infancy
5894	RAF1	HP:0007477	Abnormal dermatoglyphics
5894	RAF1	HP:0001324	Muscle weakness
5894	RAF1	HP:0000006	Autosomal dominant inheritance
5894	RAF1	HP:0002650	Scoliosis
5894	RAF1	HP:0033755	Increased left ventricular end-diastolic volume
5894	RAF1	HP:0002617	Vascular dilatation
5894	RAF1	HP:0000179	Thick lower lip vermilion
5894	RAF1	HP:0000144	Decreased fertility
5894	RAF1	HP:0000154	Wide mouth
5894	RAF1	HP:0001480	Freckling
5894	RAF1	HP:0001482	Subcutaneous nodule
5894	RAF1	HP:0002750	Delayed skeletal maturation
5894	RAF1	HP:0011800	Midface retrusion
5894	RAF1	HP:0100542	Abnormal localization of kidney
5894	RAF1	HP:0100578	Lipoatrophy
5894	RAF1	HP:0011710	Bundle branch block
5894	RAF1	HP:0003457	EMG abnormality
5894	RAF1	HP:0002167	Abnormality of speech or vocalization
5894	RAF1	HP:0002162	Low posterior hairline
5894	RAF1	HP:0011869	Abnormal platelet function
5894	RAF1	HP:0003596	Middle age onset
5894	RAF1	HP:0002240	Hepatomegaly
5894	RAF1	HP:0002212	Curly hair
5894	RAF1	HP:0002213	Fine hair
5894	RAF1	HP:0002208	Coarse hair
5894	RAF1	HP:0100763	Abnormality of the lymphatic system
5894	RAF1	HP:0003691	Scapular winging
5894	RAF1	HP:0001004	Lymphedema
5894	RAF1	HP:0001003	Multiple lentigines
5894	RAF1	HP:0100625	Enlarged thorax
5894	RAF1	HP:0032152	Keratosis pilaris
5894	RAF1	HP:0003621	Juvenile onset
5894	RAF1	HP:0004209	Clinodactyly of the 5th finger
5894	RAF1	HP:0000639	Nystagmus
5894	RAF1	HP:0001928	Abnormality of coagulation
5894	RAF1	HP:0011381	Aplasia of the semicircular canal
5894	RAF1	HP:0011362	Abnormal hair quantity
5894	RAF1	HP:0012664	Reduced left ventricular ejection fraction
5894	RAF1	HP:0001999	Abnormal facial shape
5894	RAF1	HP:0004322	Short stature
5894	RAF1	HP:0004308	Ventricular arrhythmia
5894	RAF1	HP:0004306	Abnormal endocardium morphology
5894	RAF1	HP:0030680	Abnormality of cardiovascular system morphology
5894	RAF1	HP:0005692	Joint hyperflexibility
5894	RAF1	HP:0003006	Neuroblastoma
5894	RAF1	HP:0000767	Pectus excavatum
5894	RAF1	HP:0000766	Abnormal sternum morphology
5894	RAF1	HP:0000768	Pectus carinatum
5894	RAF1	HP:0011463	Childhood onset
5894	RAF1	HP:0011462	Young adult onset
5894	RAF1	HP:0004415	Pulmonary artery stenosis
5894	RAF1	HP:0004414	Abnormality of the pulmonary artery
5894	RAF1	HP:0003198	Myopathy
5894	RAF1	HP:0000912	Sprengel anomaly
5894	RAF1	HP:0003236	Elevated circulating creatine kinase concentration
5894	RAF1	HP:0003298	Spina bifida occulta
5894	RAF1	HP:0045075	Sparse eyebrow
5894	RAF1	HP:0000995	Melanocytic nevus
5894	RAF1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
5894	RAF1	HP:0000974	Hyperextensible skin
5894	RAF1	HP:0000982	Palmoplantar keratoderma
5894	RAF1	HP:0000958	Dry skin
5894	RAF1	HP:0000957	Cafe-au-lait spot
5894	RAF1	HP:0011675	Arrhythmia
5894	RAF1	HP:0000286	Epicanthus
5894	RAF1	HP:0012249	Abnormal ST segment
5894	RAF1	HP:0000256	Macrocephaly
5894	RAF1	HP:0000271	Abnormality of the face
5894	RAF1	HP:0000268	Dolichocephaly
5894	RAF1	HP:0000248	Brachycephaly
5894	RAF1	HP:0000218	High palate
5894	RAF1	HP:0001561	Polyhydramnios
5894	RAF1	HP:0002861	Melanoma
5894	RAF1	HP:0002863	Myelodysplasia
5894	RAF1	HP:0001520	Large for gestational age
5894	RAF1	HP:0001511	Intrauterine growth retardation
5894	RAF1	HP:0001510	Growth delay
5894	RAF1	HP:0000391	Thickened helices
5894	RAF1	HP:0001608	Abnormality of the voice
5894	RAF1	HP:0001601	Laryngomalacia
5894	RAF1	HP:0000369	Low-set ears
5894	RAF1	HP:0000368	Low-set, posteriorly rotated ears
5894	RAF1	HP:0000348	High forehead
5894	RAF1	HP:0000347	Micrognathia
5894	RAF1	HP:0000316	Hypertelorism
5894	RAF1	HP:0001642	Pulmonic stenosis
5894	RAF1	HP:0002974	Radioulnar synostosis
5894	RAF1	HP:0001644	Dilated cardiomyopathy
5894	RAF1	HP:0001658	Myocardial infarction
5894	RAF1	HP:0001653	Mitral regurgitation
5894	RAF1	HP:0000325	Triangular face
5894	RAF1	HP:0001641	Abnormal pulmonary valve morphology
5894	RAF1	HP:0001639	Hypertrophic cardiomyopathy
5894	RAF1	HP:0001635	Congestive heart failure
5894	RAF1	HP:0002967	Cubitus valgus
5894	RAF1	HP:0001631	Atrial septal defect
5894	RAF1	HP:0000303	Mandibular prognathia
5894	RAF1	HP:0001634	Mitral valve prolapse
5894	RAF1	HP:0001633	Abnormal mitral valve morphology
5894	RAF1	HP:0006610	Wide intermamillary distance
5894	RAF1	HP:0006695	Atrioventricular canal defect
5894	RAF1	HP:0000407	Sensorineural hearing impairment
5894	RAF1	HP:0005280	Depressed nasal bridge
5894	RAF1	HP:0000486	Strabismus
5894	RAF1	HP:0012471	Thick vermilion border
5894	RAF1	HP:0000476	Cystic hygroma
5894	RAF1	HP:0000494	Downslanted palpebral fissures
5894	RAF1	HP:0001792	Small nail
5894	RAF1	HP:0000474	Thickened nuchal skin fold
5894	RAF1	HP:0000470	Short neck
5894	RAF1	HP:0000465	Webbed neck
5894	RAF1	HP:0001743	Abnormality of the spleen
5894	RAF1	HP:0000431	Wide nasal bridge
5894	RAF1	HP:0000520	Proptosis
5894	RAF1	HP:0000508	Ptosis
5894	RAF1	HP:0001892	Abnormal bleeding
5894	RAF1	HP:0011220	Prominent forehead
5894	RAF1	HP:0001874	Abnormality of neutrophils
5896	RAG1	HP:0100806	Sepsis
5896	RAG1	HP:0001287	Meningitis
5896	RAG1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5896	RAG1	HP:0010976	B lymphocytopenia
5896	RAG1	HP:0010975	Abnormal B cell count
5896	RAG1	HP:0001369	Arthritis
5896	RAG1	HP:0007549	Desquamation of skin soon after birth
5896	RAG1	HP:0008866	Failure to thrive secondary to recurrent infections
5896	RAG1	HP:0000007	Autosomal recessive inheritance
5896	RAG1	HP:0002665	Lymphoma
5896	RAG1	HP:0000100	Nephrotic syndrome
5896	RAG1	HP:0001433	Hepatosplenomegaly
5896	RAG1	HP:0002743	Recurrent enteroviral infections
5896	RAG1	HP:0002718	Recurrent bacterial infections
5896	RAG1	HP:0002716	Lymphadenopathy
5896	RAG1	HP:0002720	Decreased circulating IgA level
5896	RAG1	HP:0002721	Immunodeficiency
5896	RAG1	HP:0002028	Chronic diarrhea
5896	RAG1	HP:0002014	Diarrhea
5896	RAG1	HP:0040334	Purulent rhinitis
5896	RAG1	HP:0002090	Pneumonia
5896	RAG1	HP:0011839	Abnormal T cell count
5896	RAG1	HP:0003593	Infantile onset
5896	RAG1	HP:0002240	Hepatomegaly
5896	RAG1	HP:0002205	Recurrent respiratory infections
5896	RAG1	HP:0200117	Recurrent upper and lower respiratory tract infections
5896	RAG1	HP:0001019	Erythroderma
5896	RAG1	HP:0100646	Thyroiditis
5896	RAG1	HP:0001072	Thickened skin
5896	RAG1	HP:0001974	Leukocytosis
5896	RAG1	HP:0001945	Fever
5896	RAG1	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
5896	RAG1	HP:0001903	Anemia
5896	RAG1	HP:0004315	Decreased circulating IgG level
5896	RAG1	HP:0004332	Abnormal lymphocyte morphology
5896	RAG1	HP:0004313	Decreased circulating antibody level
5896	RAG1	HP:0003075	Hypoproteinemia
5896	RAG1	HP:0004385	Protracted diarrhea
5896	RAG1	HP:0000778	Hypoplasia of the thymus
5896	RAG1	HP:0004430	Severe combined immunodeficiency
5896	RAG1	HP:0004429	Recurrent viral infections
5896	RAG1	HP:0003139	Panhypogammaglobulinemia
5896	RAG1	HP:0000821	Hypothyroidism
5896	RAG1	HP:0040089	Abnormal natural killer cell count
5896	RAG1	HP:0045080	Decreased proportion of CD3-positive T cells
5896	RAG1	HP:0000980	Pallor
5896	RAG1	HP:0000989	Pruritus
5896	RAG1	HP:0000988	Skin rash
5896	RAG1	HP:0000958	Dry skin
5896	RAG1	HP:0000969	Edema
5896	RAG1	HP:0000944	Abnormal metaphysis morphology
5896	RAG1	HP:0000265	Mastoiditis
5896	RAG1	HP:0001596	Alopecia
5896	RAG1	HP:0031402	Reduced antigen-specific T cell proliferation
5896	RAG1	HP:0002840	Lymphadenitis
5896	RAG1	HP:0001508	Failure to thrive
5896	RAG1	HP:0002850	Decreased circulating total IgM
5896	RAG1	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
5896	RAG1	HP:0002841	Recurrent fungal infections
5896	RAG1	HP:0000388	Otitis media
5896	RAG1	HP:0006515	Interstitial pneumonitis
5896	RAG1	HP:0002910	Elevated hepatic transaminase
5896	RAG1	HP:0002960	Autoimmunity
5896	RAG1	HP:0005387	Combined immunodeficiency
5896	RAG1	HP:0005365	Severe B lymphocytopenia
5896	RAG1	HP:0001744	Splenomegaly
5896	RAG1	HP:0005403	T lymphocytopenia
5896	RAG1	HP:0000509	Conjunctivitis
5896	RAG1	HP:0001831	Short toe
5896	RAG1	HP:0005390	Recurrent opportunistic infections
5896	RAG1	HP:0001890	Autoimmune hemolytic anemia
5896	RAG1	HP:0001888	Lymphopenia
5896	RAG1	HP:0001880	Eosinophilia
5896	RAG1	HP:0001873	Thrombocytopenia
5897	RAG2	HP:0100806	Sepsis
5897	RAG2	HP:0001287	Meningitis
5897	RAG2	HP:0100840	Aplasia/Hypoplasia of the eyebrow
5897	RAG2	HP:0010976	B lymphocytopenia
5897	RAG2	HP:0010975	Abnormal B cell count
5897	RAG2	HP:0001369	Arthritis
5897	RAG2	HP:0007549	Desquamation of skin soon after birth
5897	RAG2	HP:0008866	Failure to thrive secondary to recurrent infections
5897	RAG2	HP:0000007	Autosomal recessive inheritance
5897	RAG2	HP:0002665	Lymphoma
5897	RAG2	HP:0000100	Nephrotic syndrome
5897	RAG2	HP:0001433	Hepatosplenomegaly
5897	RAG2	HP:0002743	Recurrent enteroviral infections
5897	RAG2	HP:0002718	Recurrent bacterial infections
5897	RAG2	HP:0002716	Lymphadenopathy
5897	RAG2	HP:0002720	Decreased circulating IgA level
5897	RAG2	HP:0002028	Chronic diarrhea
5897	RAG2	HP:0002014	Diarrhea
5897	RAG2	HP:0040334	Purulent rhinitis
5897	RAG2	HP:0002090	Pneumonia
5897	RAG2	HP:0011839	Abnormal T cell count
5897	RAG2	HP:0003593	Infantile onset
5897	RAG2	HP:0002240	Hepatomegaly
5897	RAG2	HP:0002205	Recurrent respiratory infections
5897	RAG2	HP:0200117	Recurrent upper and lower respiratory tract infections
5897	RAG2	HP:0001019	Erythroderma
5897	RAG2	HP:0100646	Thyroiditis
5897	RAG2	HP:0001072	Thickened skin
5897	RAG2	HP:0001974	Leukocytosis
5897	RAG2	HP:0001945	Fever
5897	RAG2	HP:0001903	Anemia
5897	RAG2	HP:0004315	Decreased circulating IgG level
5897	RAG2	HP:0004332	Abnormal lymphocyte morphology
5897	RAG2	HP:0004313	Decreased circulating antibody level
5897	RAG2	HP:0003075	Hypoproteinemia
5897	RAG2	HP:0004385	Protracted diarrhea
5897	RAG2	HP:0000778	Hypoplasia of the thymus
5897	RAG2	HP:0004430	Severe combined immunodeficiency
5897	RAG2	HP:0004429	Recurrent viral infections
5897	RAG2	HP:0003139	Panhypogammaglobulinemia
5897	RAG2	HP:0000821	Hypothyroidism
5897	RAG2	HP:0040089	Abnormal natural killer cell count
5897	RAG2	HP:0045080	Decreased proportion of CD3-positive T cells
5897	RAG2	HP:0000980	Pallor
5897	RAG2	HP:0000989	Pruritus
5897	RAG2	HP:0000988	Skin rash
5897	RAG2	HP:0000958	Dry skin
5897	RAG2	HP:0000969	Edema
5897	RAG2	HP:0000944	Abnormal metaphysis morphology
5897	RAG2	HP:0000265	Mastoiditis
5897	RAG2	HP:0001596	Alopecia
5897	RAG2	HP:0031402	Reduced antigen-specific T cell proliferation
5897	RAG2	HP:0002840	Lymphadenitis
5897	RAG2	HP:0001508	Failure to thrive
5897	RAG2	HP:0002850	Decreased circulating total IgM
5897	RAG2	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
5897	RAG2	HP:0002841	Recurrent fungal infections
5897	RAG2	HP:0000388	Otitis media
5897	RAG2	HP:0002910	Elevated hepatic transaminase
5897	RAG2	HP:0002960	Autoimmunity
5897	RAG2	HP:0005387	Combined immunodeficiency
5897	RAG2	HP:0005365	Severe B lymphocytopenia
5897	RAG2	HP:0001744	Splenomegaly
5897	RAG2	HP:0005403	T lymphocytopenia
5897	RAG2	HP:0000509	Conjunctivitis
5897	RAG2	HP:0001831	Short toe
5897	RAG2	HP:0005390	Recurrent opportunistic infections
5897	RAG2	HP:0001890	Autoimmune hemolytic anemia
5897	RAG2	HP:0001888	Lymphopenia
5897	RAG2	HP:0001880	Eosinophilia
5897	RAG2	HP:0001873	Thrombocytopenia
5898	RALA	HP:0001250	Seizure
5898	RALA	HP:0001252	Hypotonia
5898	RALA	HP:0001249	Intellectual disability
5898	RALA	HP:0001263	Global developmental delay
5898	RALA	HP:0001344	Absent speech
5898	RALA	HP:0000006	Autosomal dominant inheritance
5898	RALA	HP:0004691	2-3 toe syndactyly
5898	RALA	HP:0002263	Exaggerated cupid's bow
5898	RALA	HP:0003577	Congenital onset
5898	RALA	HP:0031936	Delayed ability to walk
5898	RALA	HP:0000750	Delayed speech and language development
5898	RALA	HP:0000729	Autistic behavior
5898	RALA	HP:0000286	Epicanthus
5898	RALA	HP:0030084	Clinodactyly
5898	RALA	HP:0000219	Thin upper lip vermilion
5898	RALA	HP:0000358	Posteriorly rotated ears
5898	RALA	HP:0000369	Low-set ears
5898	RALA	HP:0000322	Short philtrum
5898	RALA	HP:0000307	Pointed chin
5898	RALA	HP:0000463	Anteverted nares
5898	RALA	HP:0000431	Wide nasal bridge
5898	RALA	HP:0000508	Ptosis
5898	RALA	HP:0011228	Horizontal eyebrow
5898	RALA	HP:0011220	Prominent forehead
5903	RANBP2	HP:0002445	Tetraplegia
5903	RANBP2	HP:0001298	Encephalopathy
5903	RANBP2	HP:0001276	Hypertonia
5903	RANBP2	HP:0001288	Gait disturbance
5903	RANBP2	HP:0001250	Seizure
5903	RANBP2	HP:0001249	Intellectual disability
5903	RANBP2	HP:0001260	Dysarthria
5903	RANBP2	HP:0001257	Spasticity
5903	RANBP2	HP:0001259	Coma
5903	RANBP2	HP:0003829	Typified by incomplete penetrance
5903	RANBP2	HP:0002510	Spastic tetraplegia
5903	RANBP2	HP:0000006	Autosomal dominant inheritance
5903	RANBP2	HP:0002793	Abnormal pattern of respiration
5903	RANBP2	HP:0025404	Abnormal visual fixation
5903	RANBP2	HP:0002715	Abnormality of the immune system
5903	RANBP2	HP:0002013	Vomiting
5903	RANBP2	HP:0003324	Generalized muscle weakness
5903	RANBP2	HP:0002090	Pneumonia
5903	RANBP2	HP:0002063	Rigidity
5903	RANBP2	HP:0002181	Cerebral edema
5903	RANBP2	HP:0002171	Gliosis
5903	RANBP2	HP:0011887	Choroid hemorrhage
5903	RANBP2	HP:0003593	Infantile onset
5903	RANBP2	HP:0010663	Abnormality of thalamus morphology
5903	RANBP2	HP:0002363	Abnormal brainstem morphology
5903	RANBP2	HP:0002376	Developmental regression
5903	RANBP2	HP:0006846	Acute encephalopathy
5903	RANBP2	HP:0001945	Fever
5903	RANBP2	HP:0031982	Abnormal putamen morphology
5903	RANBP2	HP:0012747	Abnormal brainstem MRI signal intensity
5903	RANBP2	HP:0002922	Increased CSF protein concentration
5913	RAPSN	HP:0003722	Neck flexor weakness
5913	RAPSN	HP:0003700	Generalized amyotrophy
5913	RAPSN	HP:0001252	Hypotonia
5913	RAPSN	HP:0001262	Excessive daytime somnolence
5913	RAPSN	HP:0002527	Falls
5913	RAPSN	HP:0003803	Type 1 muscle fiber predominance
5913	RAPSN	HP:0001371	Flexion contracture
5913	RAPSN	HP:0000028	Cryptorchidism
5913	RAPSN	HP:0008872	Feeding difficulties in infancy
5913	RAPSN	HP:0410011	Abnormality of masticatory muscle
5913	RAPSN	HP:0001324	Muscle weakness
5913	RAPSN	HP:0000007	Autosomal recessive inheritance
5913	RAPSN	HP:0001305	Dandy-Walker malformation
5913	RAPSN	HP:0002650	Scoliosis
5913	RAPSN	HP:0001319	Neonatal hypotonia
5913	RAPSN	HP:0001315	Reduced tendon reflexes
5913	RAPSN	HP:0002643	Neonatal respiratory distress
5913	RAPSN	HP:0031108	Triceps weakness
5913	RAPSN	HP:0000175	Cleft palate
5913	RAPSN	HP:0001446	Abnormality of the musculature of the upper limbs
5913	RAPSN	HP:0002792	Reduced vital capacity
5913	RAPSN	HP:0002033	Poor suck
5913	RAPSN	HP:0003324	Generalized muscle weakness
5913	RAPSN	HP:0002089	Pulmonary hypoplasia
5913	RAPSN	HP:0002093	Respiratory insufficiency
5913	RAPSN	HP:0002091	Restrictive ventilatory defect
5913	RAPSN	HP:0003391	Gowers sign
5913	RAPSN	HP:0003388	Easy fatigability
5913	RAPSN	HP:0010489	Absent palmar crease
5913	RAPSN	HP:0003484	Upper limb muscle weakness
5913	RAPSN	HP:0003458	EMG: myopathic abnormalities
5913	RAPSN	HP:0003443	Decreased size of nerve terminals
5913	RAPSN	HP:0003402	Decreased miniature endplate potentials
5913	RAPSN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
5913	RAPSN	HP:0002194	Delayed gross motor development
5913	RAPSN	HP:0100490	Camptodactyly of finger
5913	RAPSN	HP:0003577	Congenital onset
5913	RAPSN	HP:0003547	Shoulder girdle muscle weakness
5913	RAPSN	HP:0011968	Feeding difficulties
5913	RAPSN	HP:0010628	Facial palsy
5913	RAPSN	HP:0011947	Respiratory tract infection
5913	RAPSN	HP:0001059	Pterygium
5913	RAPSN	HP:0002375	Hypokinesia
5913	RAPSN	HP:0002329	Drowsiness
5913	RAPSN	HP:0010804	Tented upper lip vermilion
5913	RAPSN	HP:0033454	Tube feeding
5913	RAPSN	HP:0002304	Akinesia
5913	RAPSN	HP:0009077	Weakness of long finger extensor muscles
5913	RAPSN	HP:0000651	Diplopia
5913	RAPSN	HP:0009046	Difficulty running
5913	RAPSN	HP:0009005	Weakness of the intrinsic hand muscles
5913	RAPSN	HP:0001989	Fetal akinesia sequence
5913	RAPSN	HP:0005659	Thoracic kyphoscoliosis
5913	RAPSN	HP:0012764	Orthopnea
5913	RAPSN	HP:0003202	Skeletal muscle atrophy
5913	RAPSN	HP:0000961	Cyanosis
5913	RAPSN	HP:0000276	Long face
5913	RAPSN	HP:0002828	Multiple joint contractures
5913	RAPSN	HP:0002804	Arthrogryposis multiplex congenita
5913	RAPSN	HP:0002878	Respiratory failure
5913	RAPSN	HP:0000218	High palate
5913	RAPSN	HP:0002875	Exertional dyspnea
5913	RAPSN	HP:0001561	Polyhydramnios
5913	RAPSN	HP:0001558	Decreased fetal movement
5913	RAPSN	HP:0001508	Failure to thrive
5913	RAPSN	HP:0031374	Ankle weakness
5913	RAPSN	HP:0001511	Intrauterine growth retardation
5913	RAPSN	HP:0012378	Fatigue
5913	RAPSN	HP:0030208	Anti-acetylcholine receptor antibody positivity
5913	RAPSN	HP:0005245	Intestinal hypoplasia
5913	RAPSN	HP:0030196	Fatigable weakness of respiratory muscles
5913	RAPSN	HP:0001612	Weak cry
5913	RAPSN	HP:0030199	Fatigable weakness of neck muscles
5913	RAPSN	HP:0000358	Posteriorly rotated ears
5913	RAPSN	HP:0000369	Low-set ears
5913	RAPSN	HP:0000347	Micrognathia
5913	RAPSN	HP:0000316	Hypertelorism
5913	RAPSN	HP:0005280	Depressed nasal bridge
5913	RAPSN	HP:0000476	Cystic hygroma
5913	RAPSN	HP:0000494	Downslanted palpebral fissures
5913	RAPSN	HP:0000496	Abnormality of eye movement
5913	RAPSN	HP:0000475	Broad neck
5913	RAPSN	HP:0000431	Wide nasal bridge
5913	RAPSN	HP:0000508	Ptosis
5913	RAPSN	HP:0000597	Ophthalmoparesis
5913	RAPSN	HP:0012515	Hip flexor weakness
5914	RARA	HP:0031035	Chronic infection
5914	RARA	HP:0031020	Bone marrow hypercellularity
5914	RARA	HP:0001324	Muscle weakness
5914	RARA	HP:0002653	Bone pain
5914	RARA	HP:0012135	Abnormal granulocytopoietic cell morphology
5914	RARA	HP:0025420	Diffuse alveolar hemorrhage
5914	RARA	HP:0001428	Somatic mutation
5914	RARA	HP:0031245	Productive cough
5914	RARA	HP:0002716	Lymphadenopathy
5914	RARA	HP:0002027	Abdominal pain
5914	RARA	HP:0030955	Alcoholism
5914	RARA	HP:0002039	Anorexia
5914	RARA	HP:0011900	Hypofibrinogenemia
5914	RARA	HP:0100758	Gangrene
5914	RARA	HP:0004836	Acute promyelocytic leukemia
5914	RARA	HP:0002321	Vertigo
5914	RARA	HP:0100608	Metrorrhagia
5914	RARA	HP:0005521	Disseminated intravascular coagulation
5914	RARA	HP:0001974	Leukocytosis
5914	RARA	HP:0001945	Fever
5914	RARA	HP:0001903	Anemia
5914	RARA	HP:0000790	Hematuria
5914	RARA	HP:0010280	Stomatitis
5914	RARA	HP:0000979	Purpura
5914	RARA	HP:0000978	Bruising susceptibility
5914	RARA	HP:0000967	Petechiae
5914	RARA	HP:0000212	Gingival overgrowth
5914	RARA	HP:0002875	Exertional dyspnea
5914	RARA	HP:0000225	Gingival bleeding
5914	RARA	HP:0031364	Ecchymosis
5914	RARA	HP:0012378	Fatigue
5914	RARA	HP:0030140	Oral cavity bleeding
5914	RARA	HP:0000421	Epistaxis
5914	RARA	HP:0001824	Weight loss
5914	RARA	HP:0001892	Abnormal bleeding
5914	RARA	HP:0001882	Leukopenia
5914	RARA	HP:0001873	Thrombocytopenia
5914	RARA	HP:0001876	Pancytopenia
5914	RARA	HP:0001875	Neutropenia
5915	RARB	HP:0100800	Aplasia/Hypoplasia of the pancreas
5915	RARB	HP:0001252	Hypotonia
5915	RARB	HP:0001249	Intellectual disability
5915	RARB	HP:0100867	Duodenal stenosis
5915	RARB	HP:0000089	Renal hypoplasia
5915	RARB	HP:0000085	Horseshoe kidney
5915	RARB	HP:0000076	Vesicoureteral reflux
5915	RARB	HP:0000028	Cryptorchidism
5915	RARB	HP:0000007	Autosomal recessive inheritance
5915	RARB	HP:0000006	Autosomal dominant inheritance
5915	RARB	HP:0000130	Abnormality of the uterus
5915	RARB	HP:0025408	Abnormal spleen morphology
5915	RARB	HP:0002089	Pulmonary hypoplasia
5915	RARB	HP:0002088	Abnormal lung morphology
5915	RARB	HP:0030680	Abnormality of cardiovascular system morphology
5915	RARB	HP:0000776	Congenital diaphragmatic hernia
5915	RARB	HP:0000813	Bicornuate uterus
5915	RARB	HP:0000278	Retrognathia
5915	RARB	HP:0001508	Failure to thrive
5915	RARB	HP:0001511	Intrauterine growth retardation
5915	RARB	HP:0005156	Hypoplastic left atrium
5915	RARB	HP:0000369	Low-set ears
5915	RARB	HP:0000347	Micrognathia
5915	RARB	HP:0001629	Ventricular septal defect
5915	RARB	HP:0001734	Annular pancreas
5915	RARB	HP:0000455	Broad nasal tip
5915	RARB	HP:0000431	Wide nasal bridge
5915	RARB	HP:0000528	Anophthalmia
5915	RARB	HP:0000568	Microphthalmia
5917	RARS1	HP:0007281	Developmental stagnation
5917	RARS1	HP:0002421	Poor head control
5917	RARS1	HP:0002415	Leukodystrophy
5917	RARS1	HP:0001270	Motor delay
5917	RARS1	HP:0001256	Intellectual disability, mild
5917	RARS1	HP:0001251	Ataxia
5917	RARS1	HP:0001260	Dysarthria
5917	RARS1	HP:0001263	Global developmental delay
5917	RARS1	HP:0007359	Focal-onset seizure
5917	RARS1	HP:0002506	Diffuse cerebral atrophy
5917	RARS1	HP:0012043	Pendular nystagmus
5917	RARS1	HP:0001347	Hyperreflexia
5917	RARS1	HP:0001332	Dystonia
5917	RARS1	HP:0000007	Autosomal recessive inheritance
5917	RARS1	HP:0001310	Dysmetria
5917	RARS1	HP:0008936	Axial hypotonia
5917	RARS1	HP:0002013	Vomiting
5917	RARS1	HP:0002080	Intention tremor
5917	RARS1	HP:0002061	Lower limb spasticity
5917	RARS1	HP:0002079	Hypoplasia of the corpus callosum
5917	RARS1	HP:0002071	Abnormality of extrapyramidal motor function
5917	RARS1	HP:0002059	Cerebral atrophy
5917	RARS1	HP:0003487	Babinski sign
5917	RARS1	HP:0002151	Increased serum lactate
5917	RARS1	HP:0003593	Infantile onset
5917	RARS1	HP:0007024	Pseudobulbar paralysis
5917	RARS1	HP:0011968	Feeding difficulties
5917	RARS1	HP:0002395	Lower limb hyperreflexia
5917	RARS1	HP:0002355	Difficulty walking
5917	RARS1	HP:0007153	Progressive extrapyramidal movement disorder
5917	RARS1	HP:0007179	Absent smooth pursuit
5917	RARS1	HP:0006808	Cerebral hypomyelination
5917	RARS1	HP:0006895	Lower limb hypertonia
5917	RARS1	HP:0000639	Nystagmus
5917	RARS1	HP:0009062	Infantile axial hypotonia
5917	RARS1	HP:0000817	Reduced eye contact
5917	RARS1	HP:0030890	Hyperintensity of cerebral white matter on MRI
5917	RARS1	HP:0001583	Rotary nystagmus
5917	RARS1	HP:0000252	Microcephaly
5921	RASA1	HP:0025104	Capillary malformation
5921	RASA1	HP:0002408	Cerebral arteriovenous malformation
5921	RASA1	HP:0001250	Seizure
5921	RASA1	HP:0007394	Prominent superficial blood vessels
5921	RASA1	HP:0007340	Lower limb muscle weakness
5921	RASA1	HP:0000079	Abnormality of the urinary system
5921	RASA1	HP:0000016	Urinary retention
5921	RASA1	HP:0007461	Hemangiomatosis
5921	RASA1	HP:0000011	Neurogenic bladder
5921	RASA1	HP:0002671	Basal cell carcinoma
5921	RASA1	HP:0000006	Autosomal dominant inheritance
5921	RASA1	HP:0002637	Cerebral ischemia
5921	RASA1	HP:0002619	Varicose veins
5921	RASA1	HP:0002617	Vascular dilatation
5921	RASA1	HP:0031138	Abnormal B-type natriuretic peptide concentration
5921	RASA1	HP:0025474	Erythematous plaque
5921	RASA1	HP:0008968	Muscle hypertrophy of the lower extremities
5921	RASA1	HP:0000100	Nephrotic syndrome
5921	RASA1	HP:0032555	Bounding pulse
5921	RASA1	HP:0100553	Hemihypertrophy of lower limb
5921	RASA1	HP:0002076	Migraine
5921	RASA1	HP:0010484	Hypertrophy of the upper limb
5921	RASA1	HP:0003474	Somatic sensory dysfunction
5921	RASA1	HP:0002138	Subarachnoid hemorrhage
5921	RASA1	HP:0003418	Back pain
5921	RASA1	HP:0002196	Myelopathy
5921	RASA1	HP:0010550	Paraplegia
5921	RASA1	HP:0100766	Abnormal lymphatic vessel morphology
5921	RASA1	HP:0100763	Abnormality of the lymphatic system
5921	RASA1	HP:0100784	Peripheral arteriovenous fistula
5921	RASA1	HP:0100775	Dural ectasia
5921	RASA1	HP:0100749	Chest pain
5921	RASA1	HP:0020073	Hypopigmented macule
5921	RASA1	HP:0002390	Spinal arteriovenous malformation
5921	RASA1	HP:0001028	Hemangioma
5921	RASA1	HP:0001009	Telangiectasia
5921	RASA1	HP:0001004	Lymphedema
5921	RASA1	HP:0002315	Headache
5921	RASA1	HP:0200042	Skin ulcer
5921	RASA1	HP:0004948	Vascular tortuosity
5921	RASA1	HP:0004947	Arteriovenous fistula
5921	RASA1	HP:0005521	Disseminated intravascular coagulation
5921	RASA1	HP:0004302	Functional motor deficit
5921	RASA1	HP:0031939	Conus terminalis arteriovenous malformation
5921	RASA1	HP:0012733	Macule
5921	RASA1	HP:0012721	Venous malformation
5921	RASA1	HP:0100026	Arteriovenous malformation
5921	RASA1	HP:0009127	Abnormality of the musculature of the limbs
5921	RASA1	HP:0030713	Vein of Galen aneurysmal malformation
5921	RASA1	HP:0030833	Neck pain
5921	RASA1	HP:0000996	Facial capillary hemangioma
5921	RASA1	HP:0010310	Chylothorax
5921	RASA1	HP:0040189	Scaling skin
5921	RASA1	HP:0002817	Abnormality of the upper limb
5921	RASA1	HP:0002814	Abnormality of the lower limb
5921	RASA1	HP:0000238	Hydrocephalus
5921	RASA1	HP:0002936	Distal sensory impairment
5921	RASA1	HP:0006489	Abnormal femoral metaphysis morphology
5921	RASA1	HP:0001627	Abnormal heart morphology
5921	RASA1	HP:0001635	Congestive heart failure
5921	RASA1	HP:0005306	Capillary hemangioma
5921	RASA1	HP:0001722	High-output congestive heart failure
5921	RASA1	HP:0001790	Nonimmune hydrops fetalis
5921	RASA1	HP:0000421	Epistaxis
5921	RASA1	HP:0011276	Vascular skin abnormality
5921	RASA1	HP:0001892	Abnormal bleeding
5921	RASA1	HP:0012531	Pain
5921	RASA1	HP:0012514	Lower limb pain
5922	RASA2	HP:0001156	Brachydactyly
5922	RASA2	HP:0001252	Hypotonia
5922	RASA2	HP:0001260	Dysarthria
5922	RASA2	HP:0000078	Abnormality of the genital system
5922	RASA2	HP:0000044	Hypogonadotropic hypogonadism
5922	RASA2	HP:0000028	Cryptorchidism
5922	RASA2	HP:0008872	Feeding difficulties in infancy
5922	RASA2	HP:0007477	Abnormal dermatoglyphics
5922	RASA2	HP:0001324	Muscle weakness
5922	RASA2	HP:0002650	Scoliosis
5922	RASA2	HP:0000179	Thick lower lip vermilion
5922	RASA2	HP:0002750	Delayed skeletal maturation
5922	RASA2	HP:0011800	Midface retrusion
5922	RASA2	HP:0002167	Abnormality of speech or vocalization
5922	RASA2	HP:0002162	Low posterior hairline
5922	RASA2	HP:0011869	Abnormal platelet function
5922	RASA2	HP:0002240	Hepatomegaly
5922	RASA2	HP:0002208	Coarse hair
5922	RASA2	HP:0100763	Abnormality of the lymphatic system
5922	RASA2	HP:0001004	Lymphedema
5922	RASA2	HP:0100625	Enlarged thorax
5922	RASA2	HP:0004209	Clinodactyly of the 5th finger
5922	RASA2	HP:0000639	Nystagmus
5922	RASA2	HP:0001928	Abnormality of coagulation
5922	RASA2	HP:0011381	Aplasia of the semicircular canal
5922	RASA2	HP:0011362	Abnormal hair quantity
5922	RASA2	HP:0004322	Short stature
5922	RASA2	HP:0030680	Abnormality of cardiovascular system morphology
5922	RASA2	HP:0005692	Joint hyperflexibility
5922	RASA2	HP:0000767	Pectus excavatum
5922	RASA2	HP:0000768	Pectus carinatum
5922	RASA2	HP:0004415	Pulmonary artery stenosis
5922	RASA2	HP:0000995	Melanocytic nevus
5922	RASA2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
5922	RASA2	HP:0011675	Arrhythmia
5922	RASA2	HP:0000218	High palate
5922	RASA2	HP:0000391	Thickened helices
5922	RASA2	HP:0000368	Low-set, posteriorly rotated ears
5922	RASA2	HP:0000348	High forehead
5922	RASA2	HP:0000347	Micrognathia
5922	RASA2	HP:0000316	Hypertelorism
5922	RASA2	HP:0002974	Radioulnar synostosis
5922	RASA2	HP:0000325	Triangular face
5922	RASA2	HP:0001641	Abnormal pulmonary valve morphology
5922	RASA2	HP:0006610	Wide intermamillary distance
5922	RASA2	HP:0000407	Sensorineural hearing impairment
5922	RASA2	HP:0000486	Strabismus
5922	RASA2	HP:0000476	Cystic hygroma
5922	RASA2	HP:0000494	Downslanted palpebral fissures
5922	RASA2	HP:0000474	Thickened nuchal skin fold
5922	RASA2	HP:0000465	Webbed neck
5922	RASA2	HP:0001743	Abnormality of the spleen
5922	RASA2	HP:0000520	Proptosis
5922	RASA2	HP:0000508	Ptosis
5922	RASA2	HP:0001892	Abnormal bleeding
5925	RB1	HP:0001156	Brachydactyly
5925	RB1	HP:0009919	Retinoblastoma
5925	RB1	HP:0003745	Sporadic
5925	RB1	HP:0001252	Hypotonia
5925	RB1	HP:0001249	Intellectual disability
5925	RB1	HP:0006101	Finger syndactyly
5925	RB1	HP:0001386	Joint swelling
5925	RB1	HP:0001360	Holoprosencephaly
5925	RB1	HP:0007477	Abnormal dermatoglyphics
5925	RB1	HP:0002669	Osteosarcoma
5925	RB1	HP:0002665	Lymphoma
5925	RB1	HP:0000006	Autosomal dominant inheritance
5925	RB1	HP:0000175	Cleft palate
5925	RB1	HP:0025435	Increased circulating lactate dehydrogenase concentration
5925	RB1	HP:0002797	Osteolysis
5925	RB1	HP:0001428	Somatic mutation
5925	RB1	HP:0002756	Pathologic fracture
5925	RB1	HP:0100526	Neoplasm of the lung
5925	RB1	HP:0002079	Hypoplasia of the corpus callosum
5925	RB1	HP:0009601	Aplasia/Hypoplasia of the thumb
5925	RB1	HP:0009725	Bladder neoplasm
5925	RB1	HP:0010799	Pinealoma
5925	RB1	HP:0004209	Clinodactyly of the 5th finger
5925	RB1	HP:0000612	Iris coloboma
5925	RB1	HP:0001945	Fever
5925	RB1	HP:0001909	Leukemia
5925	RB1	HP:0004322	Short stature
5925	RB1	HP:0030680	Abnormality of cardiovascular system morphology
5925	RB1	HP:0003155	Elevated circulating alkaline phosphatase concentration
5925	RB1	HP:0011531	Vitritis
5925	RB1	HP:0045040	Abnormal lactate dehydrogenase level
5925	RB1	HP:0000944	Abnormal metaphysis morphology
5925	RB1	HP:0000286	Epicanthus
5925	RB1	HP:0012254	Ewing sarcoma
5925	RB1	HP:0000243	Trigonocephaly
5925	RB1	HP:0000252	Microcephaly
5925	RB1	HP:0001511	Intrauterine growth retardation
5925	RB1	HP:0000391	Thickened helices
5925	RB1	HP:0007862	Retinal calcification
5925	RB1	HP:0006491	Abnormal tibial metaphysis morphology
5925	RB1	HP:0006489	Abnormal femoral metaphysis morphology
5925	RB1	HP:0011024	Abnormality of the gastrointestinal tract
5925	RB1	HP:0000369	Low-set ears
5925	RB1	HP:0000347	Micrognathia
5925	RB1	HP:0000316	Hypertelorism
5925	RB1	HP:0007902	Vitreous hemorrhage
5925	RB1	HP:0000470	Short neck
5925	RB1	HP:0000465	Webbed neck
5925	RB1	HP:0000411	Protruding ear
5925	RB1	HP:0000431	Wide nasal bridge
5925	RB1	HP:0000426	Prominent nasal bridge
5925	RB1	HP:0006740	Transitional cell carcinoma of the bladder
5925	RB1	HP:0000518	Cataract
5925	RB1	HP:0001824	Weight loss
5925	RB1	HP:0000508	Ptosis
5925	RB1	HP:0000555	Leukocoria
5925	RB1	HP:0000568	Microphthalmia
5925	RB1	HP:0012531	Pain
5932	RBBP8	HP:0001249	Intellectual disability
5932	RBBP8	HP:0001263	Global developmental delay
5932	RBBP8	HP:0007429	Few cafe-au-lait spots
5932	RBBP8	HP:0000086	Ectopic kidney
5932	RBBP8	HP:0001385	Hip dysplasia
5932	RBBP8	HP:0000047	Hypospadias
5932	RBBP8	HP:0001363	Craniosynostosis
5932	RBBP8	HP:0006216	Single interphalangeal crease of fifth finger
5932	RBBP8	HP:0007495	Prematurely aged appearance
5932	RBBP8	HP:0000007	Autosomal recessive inheritance
5932	RBBP8	HP:0002650	Scoliosis
5932	RBBP8	HP:0001321	Cerebellar hypoplasia
5932	RBBP8	HP:0000171	Microglossia
5932	RBBP8	HP:0002750	Delayed skeletal maturation
5932	RBBP8	HP:0004692	4-5 toe syndactyly
5932	RBBP8	HP:0100543	Cognitive impairment
5932	RBBP8	HP:0010579	Cone-shaped epiphysis
5932	RBBP8	HP:0003577	Congenital onset
5932	RBBP8	HP:0002209	Sparse scalp hair
5932	RBBP8	HP:0009804	Tooth agenesis
5932	RBBP8	HP:0004209	Clinodactyly of the 5th finger
5932	RBBP8	HP:0004220	Short middle phalanx of the 5th finger
5932	RBBP8	HP:0000682	Abnormal dental enamel morphology
5932	RBBP8	HP:0011342	Mild global developmental delay
5932	RBBP8	HP:0000691	Microdontia
5932	RBBP8	HP:0004322	Short stature
5932	RBBP8	HP:0004326	Cachexia
5932	RBBP8	HP:0005692	Joint hyperflexibility
5932	RBBP8	HP:0000718	Aggressive behavior
5932	RBBP8	HP:0011451	Primary microcephaly
5932	RBBP8	HP:0005780	Absent fourth finger distal interphalangeal crease
5932	RBBP8	HP:0100259	Postaxial polydactyly
5932	RBBP8	HP:0000278	Retrognathia
5932	RBBP8	HP:0000275	Narrow face
5932	RBBP8	HP:0000252	Microcephaly
5932	RBBP8	HP:0001518	Small for gestational age
5932	RBBP8	HP:0001511	Intrauterine growth retardation
5932	RBBP8	HP:0001510	Growth delay
5932	RBBP8	HP:0000387	Absent earlobe
5932	RBBP8	HP:0002943	Thoracic scoliosis
5932	RBBP8	HP:0000363	Abnormal earlobe morphology
5932	RBBP8	HP:0000341	Narrow forehead
5932	RBBP8	HP:0000340	Sloping forehead
5932	RBBP8	HP:0000347	Micrognathia
5932	RBBP8	HP:0030148	Heart murmur
5932	RBBP8	HP:0001620	High pitched voice
5932	RBBP8	HP:0000494	Downslanted palpebral fissures
5932	RBBP8	HP:0001798	Anonychia
5932	RBBP8	HP:0000448	Prominent nose
5932	RBBP8	HP:0000444	Convex nasal ridge
5932	RBBP8	HP:0001852	Sandal gap
5932	RBBP8	HP:0001822	Hallux valgus
5932	RBBP8	HP:0000501	Glaucoma
5932	RBBP8	HP:0000568	Microphthalmia
5934	RBL2	HP:0001272	Cerebellar atrophy
5934	RBL2	HP:0025336	Delayed ability to sit
5934	RBL2	HP:0033725	Thin corpus callosum
5934	RBL2	HP:0000007	Autosomal recessive inheritance
5934	RBL2	HP:0001319	Neonatal hypotonia
5934	RBL2	HP:0002059	Cerebral atrophy
5934	RBL2	HP:0033128	Delayed ability to crawl
5934	RBL2	HP:0100716	Self-injurious behavior
5934	RBL2	HP:0003623	Neonatal onset
5934	RBL2	HP:0000648	Optic atrophy
5934	RBL2	HP:0000629	Periorbital fullness
5934	RBL2	HP:0011344	Severe global developmental delay
5934	RBL2	HP:0000666	Horizontal nystagmus
5934	RBL2	HP:0004330	Increased skull ossification
5934	RBL2	HP:0031936	Delayed ability to walk
5934	RBL2	HP:0045074	Thin eyebrow
5934	RBL2	HP:0000294	Low anterior hairline
5934	RBL2	HP:0032794	Myoclonic seizure
5934	RBL2	HP:0000316	Hypertelorism
5934	RBL2	HP:0000311	Round face
5934	RBL2	HP:0007979	Gaze-evoked horizontal nystagmus
5934	RBL2	HP:0000486	Strabismus
5934	RBL2	HP:0012471	Thick vermilion border
5934	RBL2	HP:0000431	Wide nasal bridge
5940	RBMY1A1	HP:0008734	Decreased testicular size
5940	RBMY1A1	HP:0008669	Abnormal spermatogenesis
5940	RBMY1A1	HP:0000028	Cryptorchidism
5940	RBMY1A1	HP:0000027	Azoospermia
5940	RBMY1A1	HP:0001450	Y-linked inheritance
5940	RBMY1A1	HP:0011961	Non-obstructive azoospermia
5940	RBMY1A1	HP:0011462	Young adult onset
5940	RBMY1A1	HP:0000798	Oligospermia
5940	RBMY1A1	HP:0003251	Male infertility
5949	RBP3	HP:0001133	Constriction of peripheral visual field
5949	RBP3	HP:0001249	Intellectual disability
5949	RBP3	HP:0008736	Hypoplasia of penis
5949	RBP3	HP:0001347	Hyperreflexia
5949	RBP3	HP:0000035	Abnormal testis morphology
5949	RBP3	HP:0000007	Autosomal recessive inheritance
5949	RBP3	HP:0000006	Autosomal dominant inheritance
5949	RBP3	HP:0000135	Hypogonadism
5949	RBP3	HP:0007675	Progressive night blindness
5949	RBP3	HP:0007663	Reduced visual acuity
5949	RBP3	HP:0001419	X-linked recessive inheritance
5949	RBP3	HP:0005978	Type II diabetes mellitus
5949	RBP3	HP:0003581	Adult onset
5949	RBP3	HP:0000639	Nystagmus
5949	RBP3	HP:0000648	Optic atrophy
5949	RBP3	HP:0000618	Blindness
5949	RBP3	HP:0000613	Photophobia
5949	RBP3	HP:0000602	Ophthalmoplegia
5949	RBP3	HP:0000603	Central scotoma
5949	RBP3	HP:0000662	Nyctalopia
5949	RBP3	HP:0000842	Hyperinsulinemia
5949	RBP3	HP:0000987	Atypical scarring of skin
5949	RBP3	HP:0008046	Abnormal retinal vascular morphology
5949	RBP3	HP:0007703	Abnormality of retinal pigmentation
5949	RBP3	HP:0007787	Posterior subcapsular cataract
5949	RBP3	HP:0007737	Bone spicule pigmentation of the retina
5949	RBP3	HP:0001513	Obesity
5949	RBP3	HP:0031605	Abnormality of fundus pigmentation
5949	RBP3	HP:0000407	Sensorineural hearing impairment
5949	RBP3	HP:0000405	Conductive hearing impairment
5949	RBP3	HP:0000463	Anteverted nares
5949	RBP3	HP:0000431	Wide nasal bridge
5949	RBP3	HP:0000518	Cataract
5949	RBP3	HP:0000510	Rod-cone dystrophy
5949	RBP3	HP:0000512	Abnormal electroretinogram
5949	RBP3	HP:0000505	Visual impairment
5949	RBP3	HP:0000501	Glaucoma
5949	RBP3	HP:0000563	Keratoconus
5949	RBP3	HP:0000543	Optic disc pallor
5950	RBP4	HP:0031032	Decreased retinol-binding protein level
5950	RBP4	HP:0007502	Follicular hyperkeratosis
5950	RBP4	HP:0000007	Autosomal recessive inheritance
5950	RBP4	HP:0000006	Autosomal dominant inheritance
5950	RBP4	HP:0025492	Microcoria
5950	RBP4	HP:0007663	Reduced visual acuity
5950	RBP4	HP:0034567	Optic pit
5950	RBP4	HP:0200070	Peripheral retinal atrophy
5950	RBP4	HP:0000612	Iris coloboma
5950	RBP4	HP:0000662	Nyctalopia
5950	RBP4	HP:0011463	Childhood onset
5950	RBP4	HP:0030825	Absent foveal reflex
5950	RBP4	HP:0040137	Comedonal acne
5950	RBP4	HP:0001643	Patent ductus arteriosus
5950	RBP4	HP:0000482	Microcornea
5950	RBP4	HP:0000528	Anophthalmia
5950	RBP4	HP:0000505	Visual impairment
5950	RBP4	HP:0000556	Retinal dystrophy
5950	RBP4	HP:0000568	Microphthalmia
5950	RBP4	HP:0000567	Chorioretinal coloboma
5950	RBP4	HP:0000552	Tritanomaly
5956	OPN1LW	HP:0001131	Corneal dystrophy
5956	OPN1LW	HP:0012043	Pendular nystagmus
5956	OPN1LW	HP:0007663	Reduced visual acuity
5956	OPN1LW	HP:0001419	X-linked recessive inheritance
5956	OPN1LW	HP:0200018	Protanomaly
5956	OPN1LW	HP:0000639	Nystagmus
5956	OPN1LW	HP:0000613	Photophobia
5956	OPN1LW	HP:0000662	Nyctalopia
5956	OPN1LW	HP:0008002	Abnormality of macular pigmentation
5956	OPN1LW	HP:0007703	Abnormality of retinal pigmentation
5956	OPN1LW	HP:0007939	Blue cone monochromacy
5956	OPN1LW	HP:0000512	Abnormal electroretinogram
5956	OPN1LW	HP:0000505	Visual impairment
5956	OPN1LW	HP:0000551	Color vision defect
5956	OPN1LW	HP:0000545	Myopia
5959	RDH5	HP:0001142	Lenticonus
5959	RDH5	HP:0001105	Retinal atrophy
5959	RDH5	HP:0007401	Macular atrophy
5959	RDH5	HP:0012045	Retinal flecks
5959	RDH5	HP:0000007	Autosomal recessive inheritance
5959	RDH5	HP:0000006	Autosomal dominant inheritance
5959	RDH5	HP:0007675	Progressive night blindness
5959	RDH5	HP:0008323	Abnormal light- and dark-adapted electroretinogram
5959	RDH5	HP:0008527	Congenital sensorineural hearing impairment
5959	RDH5	HP:0030506	Yellow/white lesions of the retina
5959	RDH5	HP:0000613	Photophobia
5959	RDH5	HP:0000603	Central scotoma
5959	RDH5	HP:0000662	Nyctalopia
5959	RDH5	HP:0030642	Fundus albipunctatus
5959	RDH5	HP:0011505	Cystoid macular edema
5959	RDH5	HP:0030825	Absent foveal reflex
5959	RDH5	HP:0007843	Attenuation of retinal blood vessels
5959	RDH5	HP:0007814	Retinal pigment epithelial mottling
5959	RDH5	HP:0031605	Abnormality of fundus pigmentation
5959	RDH5	HP:0007994	Peripheral visual field loss
5959	RDH5	HP:0007987	Progressive visual field defects
5959	RDH5	HP:0000529	Progressive visual loss
5959	RDH5	HP:0000580	Pigmentary retinopathy
5961	PRPH2	HP:0025148	Dark choroid
5961	PRPH2	HP:0001133	Constriction of peripheral visual field
5961	PRPH2	HP:0001142	Lenticonus
5961	PRPH2	HP:0001139	Choroideremia
5961	PRPH2	HP:0001105	Retinal atrophy
5961	PRPH2	HP:0001123	Visual field defect
5961	PRPH2	HP:0001249	Intellectual disability
5961	PRPH2	HP:0007401	Macular atrophy
5961	PRPH2	HP:0008736	Hypoplasia of penis
5961	PRPH2	HP:0012045	Retinal flecks
5961	PRPH2	HP:0001347	Hyperreflexia
5961	PRPH2	HP:0000035	Abnormal testis morphology
5961	PRPH2	HP:0031152	Full-thickness macular hole
5961	PRPH2	HP:0000007	Autosomal recessive inheritance
5961	PRPH2	HP:0000006	Autosomal dominant inheritance
5961	PRPH2	HP:0000135	Hypogonadism
5961	PRPH2	HP:0007675	Progressive night blindness
5961	PRPH2	HP:0007677	Vitelliform-like macular lesions
5961	PRPH2	HP:0007663	Reduced visual acuity
5961	PRPH2	HP:0007641	Dyschromatopsia
5961	PRPH2	HP:0005978	Type II diabetes mellitus
5961	PRPH2	HP:0008323	Abnormal light- and dark-adapted electroretinogram
5961	PRPH2	HP:0008527	Congenital sensorineural hearing impairment
5961	PRPH2	HP:0030500	Yellow/white lesions of the macula
5961	PRPH2	HP:0030506	Yellow/white lesions of the retina
5961	PRPH2	HP:0000639	Nystagmus
5961	PRPH2	HP:0000649	Abnormality of visual evoked potentials
5961	PRPH2	HP:0000648	Optic atrophy
5961	PRPH2	HP:0000618	Blindness
5961	PRPH2	HP:0000613	Photophobia
5961	PRPH2	HP:0000610	Abnormal choroid morphology
5961	PRPH2	HP:0000608	Macular degeneration
5961	PRPH2	HP:0000602	Ophthalmoplegia
5961	PRPH2	HP:0000603	Central scotoma
5961	PRPH2	HP:0030491	Choriocapillaris atrophy
5961	PRPH2	HP:0000662	Nyctalopia
5961	PRPH2	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT
5961	PRPH2	HP:0030629	Perifoveal ring of hyperautofluorescence
5961	PRPH2	HP:0030631	Hyperautofluorescent macular lesion
5961	PRPH2	HP:0030642	Fundus albipunctatus
5961	PRPH2	HP:0011510	Drusen
5961	PRPH2	HP:0011506	Choroidal neovascularization
5961	PRPH2	HP:0011505	Cystoid macular edema
5961	PRPH2	HP:0000842	Hyperinsulinemia
5961	PRPH2	HP:0030825	Absent foveal reflex
5961	PRPH2	HP:0008002	Abnormality of macular pigmentation
5961	PRPH2	HP:0000987	Atypical scarring of skin
5961	PRPH2	HP:0008059	Aplasia/Hypoplasia of the macula
5961	PRPH2	HP:0008046	Abnormal retinal vascular morphology
5961	PRPH2	HP:0007722	Retinal pigment epithelial atrophy
5961	PRPH2	HP:0007703	Abnormality of retinal pigmentation
5961	PRPH2	HP:0007704	Paroxysmal involuntary eye movements
5961	PRPH2	HP:0007754	Macular dystrophy
5961	PRPH2	HP:0007730	Iris hypopigmentation
5961	PRPH2	HP:0001513	Obesity
5961	PRPH2	HP:0007843	Attenuation of retinal blood vessels
5961	PRPH2	HP:0007830	Adult-onset night blindness
5961	PRPH2	HP:0007814	Retinal pigment epithelial mottling
5961	PRPH2	HP:0007894	Hypopigmentation of the fundus
5961	PRPH2	HP:0007899	Retinal nonattachment
5961	PRPH2	HP:0007963	Pattern dystrophy of the retina
5961	PRPH2	HP:0031605	Abnormality of fundus pigmentation
5961	PRPH2	HP:0007924	Slow decrease in visual acuity
5961	PRPH2	HP:0007913	Reticular retinal dystrophy
5961	PRPH2	HP:0030329	Retinal thinning
5961	PRPH2	HP:0007994	Peripheral visual field loss
5961	PRPH2	HP:0007980	Absent retinal pigment epithelium
5961	PRPH2	HP:0007987	Progressive visual field defects
5961	PRPH2	HP:0000407	Sensorineural hearing impairment
5961	PRPH2	HP:0000405	Conductive hearing impairment
5961	PRPH2	HP:0000478	Abnormality of the eye
5961	PRPH2	HP:0000493	Abnormal foveal morphology
5961	PRPH2	HP:0000463	Anteverted nares
5961	PRPH2	HP:0025710	Late young adult onset
5961	PRPH2	HP:0000431	Wide nasal bridge
5961	PRPH2	HP:0012508	Metamorphopsia
5961	PRPH2	HP:0000518	Cataract
5961	PRPH2	HP:0000510	Rod-cone dystrophy
5961	PRPH2	HP:0000512	Abnormal electroretinogram
5961	PRPH2	HP:0000529	Progressive visual loss
5961	PRPH2	HP:0000505	Visual impairment
5961	PRPH2	HP:0000504	Abnormality of vision
5961	PRPH2	HP:0000501	Glaucoma
5961	PRPH2	HP:0000580	Pigmentary retinopathy
5961	PRPH2	HP:0000563	Keratoconus
5961	PRPH2	HP:0000572	Visual loss
5961	PRPH2	HP:0000533	Chorioretinal atrophy
5961	PRPH2	HP:0000551	Color vision defect
5962	RDX	HP:0000007	Autosomal recessive inheritance
5962	RDX	HP:0003593	Infantile onset
5962	RDX	HP:0011476	Profound sensorineural hearing impairment
5966	REL	HP:0032247	Persistent CMV viremia
5966	REL	HP:0100827	Lymphocytosis
5966	REL	HP:0410297	Partial absence of specific antibody response to tetanus vaccine
5966	REL	HP:0010976	B lymphocytopenia
5966	REL	HP:0000007	Autosomal recessive inheritance
5966	REL	HP:0410028	Recurrent oral herpes
5966	REL	HP:0002754	Osteomyelitis
5966	REL	HP:0002720	Decreased circulating IgA level
5966	REL	HP:0002028	Chronic diarrhea
5966	REL	HP:0030991	Sclerosing cholangitis
5966	REL	HP:0002090	Pneumonia
5966	REL	HP:0002240	Hepatomegaly
5966	REL	HP:0020087	BCGosis
5966	REL	HP:0100633	Esophagitis
5966	REL	HP:0001974	Leukocytosis
5966	REL	HP:0001954	Recurrent fever
5966	REL	HP:0004315	Decreased circulating IgG level
5966	REL	HP:0011463	Childhood onset
5966	REL	HP:0031380	Abnormal B cell proliferation
5966	REL	HP:0030151	Cholangitis
5966	REL	HP:0001894	Thrombocytosis
5966	REL	HP:0030388	Decreased proportion of class-switched memory B cells
5970	RELA	HP:0002460	Distal muscle weakness
5970	RELA	HP:0001288	Gait disturbance
5970	RELA	HP:0001250	Seizure
5970	RELA	HP:0000006	Autosomal dominant inheritance
5970	RELA	HP:0025461	Abnormal cell morphology
5970	RELA	HP:0000155	Oral ulcer
5970	RELA	HP:0032564	Ileitis
5970	RELA	HP:0032565	Vaginal mucosal ulceration
5970	RELA	HP:0002719	Recurrent infections
5970	RELA	HP:0002013	Vomiting
5970	RELA	HP:0100526	Neoplasm of the lung
5970	RELA	HP:0002076	Migraine
5970	RELA	HP:0100615	Ovarian neoplasm
5970	RELA	HP:0100013	Neoplasm of the breast
5970	RELA	HP:0030693	Supratentorial neoplasm
5970	RELA	HP:0010302	Spinal cord tumor
5970	RELA	HP:0002896	Neoplasm of the liver
5970	RELA	HP:0002888	Ependymoma
5970	RELA	HP:0012534	Dysesthesia
5970	RELA	HP:0012531	Pain
5971	RELB	HP:0000007	Autosomal recessive inheritance
5971	RELB	HP:0002719	Recurrent infections
5971	RELB	HP:0002205	Recurrent respiratory infections
5971	RELB	HP:0001508	Failure to thrive
5971	RELB	HP:0000403	Recurrent otitis media
5972	REN	HP:0008660	Renotubular dysgenesis
5972	REN	HP:0000089	Renal hypoplasia
5972	REN	HP:0000097	Focal segmental glomerulosclerosis
5972	REN	HP:0000093	Proteinuria
5972	REN	HP:0000092	Renal tubular atrophy
5972	REN	HP:0000079	Abnormality of the urinary system
5972	REN	HP:0000007	Autosomal recessive inheritance
5972	REN	HP:0000006	Autosomal dominant inheritance
5972	REN	HP:0002615	Hypotension
5972	REN	HP:0002009	Potter facies
5972	REN	HP:0002089	Pulmonary hypoplasia
5972	REN	HP:0002093	Respiratory insufficiency
5972	REN	HP:0100519	Anuria
5972	REN	HP:0002149	Hyperuricemia
5972	REN	HP:0004719	Hyperechogenic kidneys
5972	REN	HP:0005576	Tubulointerstitial fibrosis
5972	REN	HP:0012622	Chronic kidney disease
5972	REN	HP:0001903	Anemia
5972	REN	HP:0004492	Widely patent fontanelles and sutures
5972	REN	HP:0000252	Microcephaly
5972	REN	HP:0001562	Oligohydramnios
5977	DPF2	HP:0001156	Brachydactyly
5977	DPF2	HP:0009928	Thick nasal alae
5977	DPF2	HP:0001195	Single umbilical artery
5977	DPF2	HP:0025162	Severe temper tantrums
5977	DPF2	HP:0010864	Intellectual disability, severe
5977	DPF2	HP:0009879	Simplified gyral pattern
5977	DPF2	HP:0001274	Agenesis of corpus callosum
5977	DPF2	HP:0001270	Motor delay
5977	DPF2	HP:0001250	Seizure
5977	DPF2	HP:0001252	Hypotonia
5977	DPF2	HP:0001249	Intellectual disability
5977	DPF2	HP:0001263	Global developmental delay
5977	DPF2	HP:0000085	Horseshoe kidney
5977	DPF2	HP:0001388	Joint laxity
5977	DPF2	HP:0000047	Hypospadias
5977	DPF2	HP:0000028	Cryptorchidism
5977	DPF2	HP:0008897	Postnatal growth retardation
5977	DPF2	HP:0001344	Absent speech
5977	DPF2	HP:0000006	Autosomal dominant inheritance
5977	DPF2	HP:0001305	Dandy-Walker malformation
5977	DPF2	HP:0002650	Scoliosis
5977	DPF2	HP:0000179	Thick lower lip vermilion
5977	DPF2	HP:0000154	Wide mouth
5977	DPF2	HP:0008947	Infantile muscular hypotonia
5977	DPF2	HP:0000119	Abnormality of the genitourinary system
5977	DPF2	HP:0002788	Recurrent upper respiratory tract infections
5977	DPF2	HP:0002750	Delayed skeletal maturation
5977	DPF2	HP:0002719	Recurrent infections
5977	DPF2	HP:0002714	Downturned corners of mouth
5977	DPF2	HP:0002019	Constipation
5977	DPF2	HP:0011937	Hypoplastic fifth toenail
5977	DPF2	HP:0003593	Infantile onset
5977	DPF2	HP:0002209	Sparse scalp hair
5977	DPF2	HP:0100790	Hernia
5977	DPF2	HP:0011968	Feeding difficulties
5977	DPF2	HP:0011951	Aspiration pneumonia
5977	DPF2	HP:0007099	Chiari type I malformation
5977	DPF2	HP:0008398	Hypoplastic fifth fingernail
5977	DPF2	HP:0002342	Intellectual disability, moderate
5977	DPF2	HP:0001007	Hirsutism
5977	DPF2	HP:0004209	Clinodactyly of the 5th finger
5977	DPF2	HP:0000684	Delayed eruption of teeth
5977	DPF2	HP:0000691	Microdontia
5977	DPF2	HP:0001999	Abnormal facial shape
5977	DPF2	HP:0004322	Short stature
5977	DPF2	HP:0031936	Delayed ability to walk
5977	DPF2	HP:0000752	Hyperactivity
5977	DPF2	HP:0000767	Pectus excavatum
5977	DPF2	HP:0000750	Delayed speech and language development
5977	DPF2	HP:0000718	Aggressive behavior
5977	DPF2	HP:0000729	Autistic behavior
5977	DPF2	HP:0000708	Atypical behavior
5977	DPF2	HP:0004442	Sagittal craniosynostosis
5977	DPF2	HP:0003196	Short nose
5977	DPF2	HP:0012810	Wide nasal base
5977	DPF2	HP:0009237	Short 5th finger
5977	DPF2	HP:0000998	Hypertrichosis
5977	DPF2	HP:0000286	Epicanthus
5977	DPF2	HP:0000280	Coarse facial features
5977	DPF2	HP:0000294	Low anterior hairline
5977	DPF2	HP:0000289	Broad philtrum
5977	DPF2	HP:0030084	Clinodactyly
5977	DPF2	HP:0000243	Trigonocephaly
5977	DPF2	HP:0000252	Microcephaly
5977	DPF2	HP:0002884	Hepatoblastoma
5977	DPF2	HP:0000219	Thin upper lip vermilion
5977	DPF2	HP:0001562	Oligohydramnios
5977	DPF2	HP:0002895	Papillary thyroid carcinoma
5977	DPF2	HP:0001561	Polyhydramnios
5977	DPF2	HP:0001511	Intrauterine growth retardation
5977	DPF2	HP:0001510	Growth delay
5977	DPF2	HP:0000365	Hearing impairment
5977	DPF2	HP:0000358	Posteriorly rotated ears
5977	DPF2	HP:0000369	Low-set ears
5977	DPF2	HP:0001647	Bicuspid aortic valve
5977	DPF2	HP:0000316	Hypertelorism
5977	DPF2	HP:0001643	Patent ductus arteriosus
5977	DPF2	HP:0000322	Short philtrum
5977	DPF2	HP:0001655	Patent foramen ovale
5977	DPF2	HP:0001629	Ventricular septal defect
5977	DPF2	HP:0001627	Abnormal heart morphology
5977	DPF2	HP:0001636	Tetralogy of Fallot
5977	DPF2	HP:0001631	Atrial septal defect
5977	DPF2	HP:0000403	Recurrent otitis media
5977	DPF2	HP:0000400	Macrotia
5977	DPF2	HP:0005280	Depressed nasal bridge
5977	DPF2	HP:0000486	Strabismus
5977	DPF2	HP:0000494	Downslanted palpebral fissures
5977	DPF2	HP:0001792	Small nail
5977	DPF2	HP:0000463	Anteverted nares
5977	DPF2	HP:0000455	Broad nasal tip
5977	DPF2	HP:0000444	Convex nasal ridge
5977	DPF2	HP:0000445	Wide nose
5977	DPF2	HP:0000508	Ptosis
5977	DPF2	HP:0000505	Visual impairment
5977	DPF2	HP:0011231	Prominent eyelashes
5977	DPF2	HP:0011220	Prominent forehead
5977	DPF2	HP:0000574	Thick eyebrow
5977	DPF2	HP:0000540	Hypermetropia
5977	DPF2	HP:0012523	Oral aversion
5977	DPF2	HP:0000545	Myopia
5978	REST	HP:0002664	Neoplasm
5978	REST	HP:0002667	Nephroblastoma
5978	REST	HP:0000006	Autosomal dominant inheritance
5978	REST	HP:0000169	Gingival fibromatosis
5978	REST	HP:0002716	Lymphadenopathy
5978	REST	HP:0002027	Abdominal pain
5978	REST	HP:0100526	Neoplasm of the lung
5978	REST	HP:0003593	Infantile onset
5978	REST	HP:0003621	Juvenile onset
5978	REST	HP:0001945	Fever
5978	REST	HP:0000766	Abnormal sternum morphology
5978	REST	HP:0011463	Childhood onset
5978	REST	HP:0000790	Hematuria
5978	REST	HP:0000822	Hypertension
5978	REST	HP:0002896	Neoplasm of the liver
5978	REST	HP:0000212	Gingival overgrowth
5978	REST	HP:0000407	Sensorineural hearing impairment
5978	REST	HP:0000526	Aniridia
5978	REST	HP:0001824	Weight loss
5979	RET	HP:0001181	Adducted thumb
5979	RET	HP:0008629	Pulsatile tinnitus
5979	RET	HP:0025269	Panic attack
5979	RET	HP:0001293	Cranial nerve compression
5979	RET	HP:0001290	Generalized hypotonia
5979	RET	HP:0100806	Sepsis
5979	RET	HP:0001250	Seizure
5979	RET	HP:0001252	Hypotonia
5979	RET	HP:0001249	Intellectual disability
5979	RET	HP:0001263	Global developmental delay
5979	RET	HP:0002575	Tracheoesophageal fistula
5979	RET	HP:0002574	Episodic abdominal pain
5979	RET	HP:0032346	Cutaneous lichen amyloidosis
5979	RET	HP:0000096	Glomerular sclerosis
5979	RET	HP:0000093	Proteinuria
5979	RET	HP:0001388	Joint laxity
5979	RET	HP:0002664	Neoplasm
5979	RET	HP:0001342	Cerebral hemorrhage
5979	RET	HP:0000008	Abnormal morphology of female internal genitalia
5979	RET	HP:0002668	Paraganglioma
5979	RET	HP:0001337	Tremor
5979	RET	HP:0000006	Autosomal dominant inheritance
5979	RET	HP:0002666	Pheochromocytoma
5979	RET	HP:0002640	Hypertension associated with pheochromocytoma
5979	RET	HP:0002650	Scoliosis
5979	RET	HP:0000179	Thick lower lip vermilion
5979	RET	HP:0000175	Cleft palate
5979	RET	HP:0031284	Flushing
5979	RET	HP:0002705	High, narrow palate
5979	RET	HP:0000104	Renal agenesis
5979	RET	HP:0002020	Gastroesophageal reflux
5979	RET	HP:0002018	Nausea
5979	RET	HP:0002019	Constipation
5979	RET	HP:0002017	Nausea and vomiting
5979	RET	HP:0002027	Abdominal pain
5979	RET	HP:0005994	Nodular goiter
5979	RET	HP:0003345	Elevated urinary norepinephrine
5979	RET	HP:0002014	Diarrhea
5979	RET	HP:0002013	Vomiting
5979	RET	HP:0003307	Hyperlordosis
5979	RET	HP:0005957	Breathing dysregulation
5979	RET	HP:0002089	Pulmonary hypoplasia
5979	RET	HP:0011781	Thyroid C cell hyperplasia
5979	RET	HP:0100589	Urogenital fistula
5979	RET	HP:0011703	Sinus tachycardia
5979	RET	HP:0010497	Sirenomelia
5979	RET	HP:0010532	Paroxysmal vertigo
5979	RET	HP:0010536	Central sleep apnea
5979	RET	HP:0008208	Parathyroid hyperplasia
5979	RET	HP:0003574	Positive regitine blocking test
5979	RET	HP:0002242	Abnormal intestine morphology
5979	RET	HP:0002253	Colonic diverticula
5979	RET	HP:0002251	Aganglionic megacolon
5979	RET	HP:0003528	Elevated calcitonin
5979	RET	HP:0009711	Retinal capillary hemangioma
5979	RET	HP:0100749	Chest pain
5979	RET	HP:0011979	Elevated urinary dopamine
5979	RET	HP:0011978	Elevated urinary vanillylmandelic acid
5979	RET	HP:0001069	Episodic hyperhidrosis
5979	RET	HP:0001028	Hemangioma
5979	RET	HP:0002315	Headache
5979	RET	HP:0002331	Recurrent paroxysmal headache
5979	RET	HP:0200008	Intestinal polyposis
5979	RET	HP:0001095	Hypertensive retinopathy
5979	RET	HP:0007110	Central hypoventilation
5979	RET	HP:0003639	Elevated urinary epinephrine
5979	RET	HP:0005584	Renal cell carcinoma
5979	RET	HP:0001962	Palpitations
5979	RET	HP:0001958	Nonketotic hypoglycemia
5979	RET	HP:0001920	Renal artery stenosis
5979	RET	HP:0004322	Short stature
5979	RET	HP:0003005	Ganglioneuroma
5979	RET	HP:0030680	Abnormality of cardiovascular system morphology
5979	RET	HP:0003072	Hypercalcemia
5979	RET	HP:0004387	Enterocolitis
5979	RET	HP:0004362	Abnormality of enteric ganglion morphology
5979	RET	HP:0003006	Neuroblastoma
5979	RET	HP:0000767	Pectus excavatum
5979	RET	HP:0100031	Neoplasm of the thyroid gland
5979	RET	HP:0012719	Functional abnormality of the gastrointestinal tract
5979	RET	HP:0000740	Episodic paroxysmal anxiety
5979	RET	HP:0000790	Hematuria
5979	RET	HP:0003118	Increased circulating cortisol level
5979	RET	HP:0003198	Myopathy
5979	RET	HP:0000875	Episodic hypertension
5979	RET	HP:0100335	Non-midline cleft lip
5979	RET	HP:0000843	Hyperparathyroidism
5979	RET	HP:0000822	Hypertension
5979	RET	HP:0003270	Abdominal distention
5979	RET	HP:0000980	Pallor
5979	RET	HP:0000975	Hyperhidrosis
5979	RET	HP:0000957	Cafe-au-lait spot
5979	RET	HP:0000286	Epicanthus
5979	RET	HP:0006461	Proximal femoral epiphysiolysis
5979	RET	HP:0005107	Abnormal sacrum morphology
5979	RET	HP:0002808	Kyphosis
5979	RET	HP:0001574	Abnormality of the integument
5979	RET	HP:0002897	Parathyroid adenoma
5979	RET	HP:0012222	Arachnoid hemangiomatosis
5979	RET	HP:0000218	High palate
5979	RET	HP:0001562	Oligohydramnios
5979	RET	HP:0001561	Polyhydramnios
5979	RET	HP:0001563	Fetal polyuria
5979	RET	HP:0001558	Decreased fetal movement
5979	RET	HP:0001531	Failure to thrive in infancy
5979	RET	HP:0001522	Death in infancy
5979	RET	HP:0002865	Medullary thyroid carcinoma
5979	RET	HP:0002864	Paraganglioma of head and neck
5979	RET	HP:0001508	Failure to thrive
5979	RET	HP:0001519	Disproportionate tall stature
5979	RET	HP:0001518	Small for gestational age
5979	RET	HP:0012378	Fatigue
5979	RET	HP:0005214	Intestinal obstruction
5979	RET	HP:0001605	Vocal cord paralysis
5979	RET	HP:0001618	Dysphonia
5979	RET	HP:0000369	Low-set ears
5979	RET	HP:0012332	Abnormal autonomic nervous system physiology
5979	RET	HP:0000316	Hypertelorism
5979	RET	HP:0001649	Tachycardia
5979	RET	HP:0001635	Congestive heart failure
5979	RET	HP:0000407	Sensorineural hearing impairment
5979	RET	HP:0000405	Conductive hearing impairment
5979	RET	HP:0000486	Strabismus
5979	RET	HP:0000457	Depressed nasal ridge
5979	RET	HP:0001761	Pes cavus
5979	RET	HP:0006748	Adrenal pheochromocytoma
5979	RET	HP:0006737	Extraadrenal pheochromocytoma
5979	RET	HP:0000519	Developmental cataract
5979	RET	HP:0000526	Aniridia
5979	RET	HP:0001824	Weight loss
5979	RET	HP:0000574	Thick eyebrow
5980	REV3L	HP:0001156	Brachydactyly
5980	REV3L	HP:0001270	Motor delay
5980	REV3L	HP:0001252	Hypotonia
5980	REV3L	HP:0006101	Finger syndactyly
5980	REV3L	HP:0000044	Hypogonadotropic hypogonadism
5980	REV3L	HP:0007565	Multiple cafe-au-lait spots
5980	REV3L	HP:0008872	Feeding difficulties in infancy
5980	REV3L	HP:0000194	Open mouth
5980	REV3L	HP:0000175	Cleft palate
5980	REV3L	HP:0002015	Dysphagia
5980	REV3L	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
5980	REV3L	HP:0009601	Aplasia/Hypoplasia of the thumb
5980	REV3L	HP:0100783	Breast aplasia
5980	REV3L	HP:0010628	Facial palsy
5980	REV3L	HP:0009804	Tooth agenesis
5980	REV3L	HP:0009751	Aplasia of the pectoralis major muscle
5980	REV3L	HP:0004209	Clinodactyly of the 5th finger
5980	REV3L	HP:0006824	Cranial nerve paralysis
5980	REV3L	HP:0000602	Ophthalmoplegia
5980	REV3L	HP:0000691	Microdontia
5980	REV3L	HP:0000717	Autism
5980	REV3L	HP:0004408	Abnormality of the sense of smell
5980	REV3L	HP:0010295	Aplasia/Hypoplasia of the tongue
5980	REV3L	HP:0040071	Abnormal morphology of ulna
5980	REV3L	HP:0003202	Skeletal muscle atrophy
5980	REV3L	HP:0000286	Epicanthus
5980	REV3L	HP:0000298	Mask-like facies
5980	REV3L	HP:0002804	Arthrogryposis multiplex congenita
5980	REV3L	HP:0000218	High palate
5980	REV3L	HP:0000232	Everted lower lip vermilion
5980	REV3L	HP:0001522	Death in infancy
5980	REV3L	HP:0006501	Aplasia/Hypoplasia of the radius
5980	REV3L	HP:0001608	Abnormality of the voice
5980	REV3L	HP:0000365	Hearing impairment
5980	REV3L	HP:0000347	Micrognathia
5980	REV3L	HP:0007957	Corneal opacity
5980	REV3L	HP:0000498	Blepharitis
5980	REV3L	HP:0004050	Absent hand
5980	REV3L	HP:0000486	Strabismus
5980	REV3L	HP:0001762	Talipes equinovarus
5980	REV3L	HP:0000508	Ptosis
5980	REV3L	HP:0000505	Visual impairment
5981	RFC1	HP:0001151	Impaired horizontal smooth pursuit
5981	RFC1	HP:0002494	Abnormal rapid eye movement sleep
5981	RFC1	HP:0002460	Distal muscle weakness
5981	RFC1	HP:0007230	Decreased distal sensory nerve action potential
5981	RFC1	HP:0008568	Vestibular areflexia
5981	RFC1	HP:0002403	Positive Romberg sign
5981	RFC1	HP:0001272	Cerebellar atrophy
5981	RFC1	HP:0001284	Areflexia
5981	RFC1	HP:0001251	Ataxia
5981	RFC1	HP:0001265	Hyporeflexia
5981	RFC1	HP:0001260	Dysarthria
5981	RFC1	HP:0000007	Autosomal recessive inheritance
5981	RFC1	HP:0001310	Dysmetria
5981	RFC1	HP:0002080	Intention tremor
5981	RFC1	HP:0002066	Gait ataxia
5981	RFC1	HP:0002075	Dysdiadochokinesis
5981	RFC1	HP:0002073	Progressive cerebellar ataxia
5981	RFC1	HP:0002070	Limb ataxia
5981	RFC1	HP:0003487	Babinski sign
5981	RFC1	HP:0003447	Axonal loss
5981	RFC1	HP:0002172	Postural instability
5981	RFC1	HP:0010545	Downbeat nystagmus
5981	RFC1	HP:0003581	Adult onset
5981	RFC1	HP:0003677	Slowly progressive
5981	RFC1	HP:0009830	Peripheral neuropathy
5981	RFC1	HP:0007141	Sensorimotor neuropathy
5981	RFC1	HP:0007108	Demyelinating peripheral neuropathy
5981	RFC1	HP:0006855	Cerebellar vermis atrophy
5981	RFC1	HP:0000640	Gaze-evoked nystagmus
5981	RFC1	HP:0000639	Nystagmus
5981	RFC1	HP:0000648	Optic atrophy
5981	RFC1	HP:0012735	Cough
5981	RFC1	HP:0000750	Delayed speech and language development
5981	RFC1	HP:0002828	Multiple joint contractures
5981	RFC1	HP:0000364	Hearing abnormality
5981	RFC1	HP:0012332	Abnormal autonomic nervous system physiology
5981	RFC1	HP:0000407	Sensorineural hearing impairment
5982	RFC2	HP:0001181	Adducted thumb
5982	RFC2	HP:0001136	Retinal arteriolar tortuosity
5982	RFC2	HP:0010880	Increased nuchal translucency
5982	RFC2	HP:0001297	Stroke
5982	RFC2	HP:0100817	Renovascular hypertension
5982	RFC2	HP:0001288	Gait disturbance
5982	RFC2	HP:0001252	Hypotonia
5982	RFC2	HP:0001251	Ataxia
5982	RFC2	HP:0001249	Intellectual disability
5982	RFC2	HP:0001260	Dysarthria
5982	RFC2	HP:0001257	Spasticity
5982	RFC2	HP:0001231	Abnormal fingernail morphology
5982	RFC2	HP:0002575	Tracheoesophageal fistula
5982	RFC2	HP:0008736	Hypoplasia of penis
5982	RFC2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
5982	RFC2	HP:0008661	Urethral stenosis
5982	RFC2	HP:0000089	Renal hypoplasia
5982	RFC2	HP:0000083	Renal insufficiency
5982	RFC2	HP:0000093	Proteinuria
5982	RFC2	HP:0000076	Vesicoureteral reflux
5982	RFC2	HP:0000075	Renal duplication
5982	RFC2	HP:0000044	Hypogonadotropic hypogonadism
5982	RFC2	HP:0001388	Joint laxity
5982	RFC2	HP:0001387	Joint stiffness
5982	RFC2	HP:0000023	Inguinal hernia
5982	RFC2	HP:0000015	Bladder diverticulum
5982	RFC2	HP:0000014	Abnormality of the bladder
5982	RFC2	HP:0001347	Hyperreflexia
5982	RFC2	HP:0001361	Nystagmus-induced head nodding
5982	RFC2	HP:0000025	Functional abnormality of male internal genitalia
5982	RFC2	HP:0000028	Cryptorchidism
5982	RFC2	HP:0007495	Prematurely aged appearance
5982	RFC2	HP:0007477	Abnormal dermatoglyphics
5982	RFC2	HP:0000010	Recurrent urinary tract infections
5982	RFC2	HP:0001337	Tremor
5982	RFC2	HP:0001310	Dysmetria
5982	RFC2	HP:0002637	Cerebral ischemia
5982	RFC2	HP:0002650	Scoliosis
5982	RFC2	HP:0002644	Abnormal pelvic girdle bone morphology
5982	RFC2	HP:0002623	Overriding aorta
5982	RFC2	HP:0000179	Thick lower lip vermilion
5982	RFC2	HP:0000158	Macroglossia
5982	RFC2	HP:0000154	Wide mouth
5982	RFC2	HP:0000147	Polycystic ovaries
5982	RFC2	HP:0000121	Nephrocalcinosis
5982	RFC2	HP:0000125	Pelvic kidney
5982	RFC2	HP:0002750	Delayed skeletal maturation
5982	RFC2	HP:0002024	Malabsorption
5982	RFC2	HP:0002020	Gastroesophageal reflux
5982	RFC2	HP:0002019	Constipation
5982	RFC2	HP:0002017	Nausea and vomiting
5982	RFC2	HP:0002035	Rectal prolapse
5982	RFC2	HP:0002027	Abdominal pain
5982	RFC2	HP:0003312	Abnormal form of the vertebral bodies
5982	RFC2	HP:0003307	Hyperlordosis
5982	RFC2	HP:0005978	Type II diabetes mellitus
5982	RFC2	HP:0100539	Periorbital edema
5982	RFC2	HP:0100545	Arterial stenosis
5982	RFC2	HP:0002071	Abnormality of extrapyramidal motor function
5982	RFC2	HP:0002141	Gait imbalance
5982	RFC2	HP:0002150	Hypercalciuria
5982	RFC2	HP:0002120	Cerebral cortical atrophy
5982	RFC2	HP:0003422	Vertebral segmentation defect
5982	RFC2	HP:0002183	Phonophobia
5982	RFC2	HP:0002167	Abnormality of speech or vocalization
5982	RFC2	HP:0010526	Dysgraphia
5982	RFC2	HP:0002253	Colonic diverticula
5982	RFC2	HP:0002205	Recurrent respiratory infections
5982	RFC2	HP:0100785	Insomnia
5982	RFC2	HP:0010662	Abnormality of the diencephalon
5982	RFC2	HP:0010669	Hypoplasia of the zygomatic bone
5982	RFC2	HP:0007018	Attention deficit hyperactivity disorder
5982	RFC2	HP:0001052	Nevus flammeus
5982	RFC2	HP:0002376	Developmental regression
5982	RFC2	HP:0200021	Down-sloping shoulders
5982	RFC2	HP:0100659	Abnormal cerebral vascular morphology
5982	RFC2	HP:0010807	Open bite
5982	RFC2	HP:0100613	Death in early adulthood
5982	RFC2	HP:0001081	Cholelithiasis
5982	RFC2	HP:0008499	High hypermetropia
5982	RFC2	HP:0010780	Hyperacusis
5982	RFC2	HP:0002308	Chiari malformation
5982	RFC2	HP:0004969	Peripheral pulmonary artery stenosis
5982	RFC2	HP:0004209	Clinodactyly of the 5th finger
5982	RFC2	HP:0004295	Abnormal gastric mucosa morphology
5982	RFC2	HP:0005562	Multiple renal cysts
5982	RFC2	HP:0001969	Abnormal tubulointerstitial morphology
5982	RFC2	HP:0000635	Blue irides
5982	RFC2	HP:0000632	Lacrimation abnormality
5982	RFC2	HP:0000627	Posterior embryotoxon
5982	RFC2	HP:0000682	Abnormal dental enamel morphology
5982	RFC2	HP:0000691	Microdontia
5982	RFC2	HP:0000689	Dental malocclusion
5982	RFC2	HP:0000670	Carious teeth
5982	RFC2	HP:0012639	Abnormal nervous system morphology
5982	RFC2	HP:0000668	Hypodontia
5982	RFC2	HP:0004322	Short stature
5982	RFC2	HP:0004306	Abnormal endocardium morphology
5982	RFC2	HP:0004305	Involuntary movements
5982	RFC2	HP:0003072	Hypercalcemia
5982	RFC2	HP:0004381	Supravalvular aortic stenosis
5982	RFC2	HP:0004398	Peptic ulcer
5982	RFC2	HP:0005692	Joint hyperflexibility
5982	RFC2	HP:0003028	Abnormality of the ankle
5982	RFC2	HP:0100025	Overfriendliness
5982	RFC2	HP:0000767	Pectus excavatum
5982	RFC2	HP:0000739	Anxiety
5982	RFC2	HP:0000716	Depression
5982	RFC2	HP:0000717	Autism
5982	RFC2	HP:0000722	Compulsive behaviors
5982	RFC2	HP:0000787	Nephrolithiasis
5982	RFC2	HP:0003119	Abnormal circulating lipid concentration
5982	RFC2	HP:0004428	Elfin facies
5982	RFC2	HP:0003198	Myopathy
5982	RFC2	HP:0003196	Short nose
5982	RFC2	HP:0000826	Precocious puberty
5982	RFC2	HP:0000822	Hypertension
5982	RFC2	HP:0000821	Hypothyroidism
5982	RFC2	HP:0003236	Elevated circulating creatine kinase concentration
5982	RFC2	HP:0003298	Spina bifida occulta
5982	RFC2	HP:0000960	Sacral dimple
5982	RFC2	HP:0000939	Osteoporosis
5982	RFC2	HP:0000938	Osteopenia
5982	RFC2	HP:0100240	Synostosis of joints
5982	RFC2	HP:0008053	Aplasia/Hypoplasia of the iris
5982	RFC2	HP:0007720	Flat cornea
5982	RFC2	HP:0000286	Epicanthus
5982	RFC2	HP:0000280	Coarse facial features
5982	RFC2	HP:0000275	Narrow face
5982	RFC2	HP:0005113	Aortic arch aneurysm
5982	RFC2	HP:0002829	Arthralgia
5982	RFC2	HP:0002808	Kyphosis
5982	RFC2	HP:0000252	Microcephaly
5982	RFC2	HP:0001582	Redundant skin
5982	RFC2	HP:0000212	Gingival overgrowth
5982	RFC2	HP:0000232	Everted lower lip vermilion
5982	RFC2	HP:0001531	Failure to thrive in infancy
5982	RFC2	HP:0002857	Genu valgum
5982	RFC2	HP:0001537	Umbilical hernia
5982	RFC2	HP:0001513	Obesity
5982	RFC2	HP:0000389	Chronic otitis media
5982	RFC2	HP:0001609	Hoarse voice
5982	RFC2	HP:0001608	Abnormality of the voice
5982	RFC2	HP:0001618	Dysphonia
5982	RFC2	HP:0006482	Abnormality of dental morphology
5982	RFC2	HP:0000368	Low-set, posteriorly rotated ears
5982	RFC2	HP:0001671	Abnormal cardiac septum morphology
5982	RFC2	HP:0000343	Long philtrum
5982	RFC2	HP:0011001	Increased bone mineral density
5982	RFC2	HP:0000337	Broad forehead
5982	RFC2	HP:0002999	Patellar dislocation
5982	RFC2	HP:0000348	High forehead
5982	RFC2	HP:0000347	Micrognathia
5982	RFC2	HP:0001647	Bicuspid aortic valve
5982	RFC2	HP:0001643	Patent ductus arteriosus
5982	RFC2	HP:0001642	Pulmonic stenosis
5982	RFC2	HP:0001645	Sudden cardiac death
5982	RFC2	HP:0002974	Radioulnar synostosis
5982	RFC2	HP:0001658	Myocardial infarction
5982	RFC2	HP:0001653	Mitral regurgitation
5982	RFC2	HP:0001629	Ventricular septal defect
5982	RFC2	HP:0001626	Abnormality of the cardiovascular system
5982	RFC2	HP:0001640	Cardiomegaly
5982	RFC2	HP:0001639	Hypertrophic cardiomyopathy
5982	RFC2	HP:0001636	Tetralogy of Fallot
5982	RFC2	HP:0001635	Congestive heart failure
5982	RFC2	HP:0000307	Pointed chin
5982	RFC2	HP:0001631	Atrial septal defect
5982	RFC2	HP:0001634	Mitral valve prolapse
5982	RFC2	HP:0007957	Corneal opacity
5982	RFC2	HP:0005344	Abnormal carotid artery morphology
5982	RFC2	HP:0000407	Sensorineural hearing impairment
5982	RFC2	HP:0000400	Macrotia
5982	RFC2	HP:0000486	Strabismus
5982	RFC2	HP:0000485	Megalocornea
5982	RFC2	HP:0000464	Abnormality of the neck
5982	RFC2	HP:0012433	Abnormal social behavior
5982	RFC2	HP:0001763	Pes planus
5982	RFC2	HP:0000411	Protruding ear
5982	RFC2	HP:0000431	Wide nasal bridge
5982	RFC2	HP:0000518	Cataract
5982	RFC2	HP:0001822	Hallux valgus
5982	RFC2	HP:0000505	Visual impairment
5982	RFC2	HP:0000501	Glaucoma
5982	RFC2	HP:0001800	Hypoplastic toenails
5982	RFC2	HP:0000581	Blepharophimosis
5982	RFC2	HP:0000545	Myopia
5993	RFX5	HP:0002583	Colitis
5993	RFX5	HP:0001260	Dysarthria
5993	RFX5	HP:0025347	Decreased circulating beta-2-microglobulin level
5993	RFX5	HP:0000010	Recurrent urinary tract infections
5993	RFX5	HP:0000007	Autosomal recessive inheritance
5993	RFX5	HP:0002783	Recurrent lower respiratory tract infections
5993	RFX5	HP:0002788	Recurrent upper respiratory tract infections
5993	RFX5	HP:0002718	Recurrent bacterial infections
5993	RFX5	HP:0002728	Chronic mucocutaneous candidiasis
5993	RFX5	HP:0002726	Recurrent Staphylococcus aureus infections
5993	RFX5	HP:0002024	Malabsorption
5993	RFX5	HP:0030991	Sclerosing cholangitis
5993	RFX5	HP:0002014	Diarrhea
5993	RFX5	HP:0002066	Gait ataxia
5993	RFX5	HP:0004798	Recurrent infection of the gastrointestinal tract
5993	RFX5	HP:0002205	Recurrent respiratory infections
5993	RFX5	HP:0200124	Chronic hepatitis due to cryptosporidium infection
5993	RFX5	HP:0007041	Chronic lymphocytic meningitis
5993	RFX5	HP:0002383	Infectious encephalitis
5993	RFX5	HP:0001080	Biliary tract abnormality
5993	RFX5	HP:0001973	Autoimmune thrombocytopenia
5993	RFX5	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
5993	RFX5	HP:0001999	Abnormal facial shape
5993	RFX5	HP:0004313	Decreased circulating antibody level
5993	RFX5	HP:0004385	Protracted diarrhea
5993	RFX5	HP:0011473	Villous atrophy
5993	RFX5	HP:0004432	Agammaglobulinemia
5993	RFX5	HP:0004429	Recurrent viral infections
5993	RFX5	HP:0003139	Panhypogammaglobulinemia
5993	RFX5	HP:0000988	Skin rash
5993	RFX5	HP:0031390	Reduced MHC II surface expression
5993	RFX5	HP:0031394	Abnormal CD4:CD8 ratio
5993	RFX5	HP:0000246	Sinusitis
5993	RFX5	HP:0001508	Failure to thrive
5993	RFX5	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
5993	RFX5	HP:0002841	Recurrent fungal infections
5993	RFX5	HP:0012384	Rhinitis
5993	RFX5	HP:0006562	Viral hepatitis
5993	RFX5	HP:0000371	Acute otitis media
5993	RFX5	HP:0030151	Cholangitis
5993	RFX5	HP:0002960	Autoimmunity
5993	RFX5	HP:0002965	Cutaneous anergy
5993	RFX5	HP:0005386	Recurrent protozoan infections
5993	RFX5	HP:0005354	Lack of T cell function
5993	RFX5	HP:0005353	Recurrent herpes
5993	RFX5	HP:0005368	Abnormality of humoral immunity
5993	RFX5	HP:0005407	Decreased proportion of CD4-positive helper T cells
5993	RFX5	HP:0005403	T lymphocytopenia
5993	RFX5	HP:0005401	Recurrent candida infections
5993	RFX5	HP:0001890	Autoimmune hemolytic anemia
5993	RFX5	HP:0001876	Pancytopenia
5993	RFX5	HP:0001875	Neutropenia
5994	RFXAP	HP:0002583	Colitis
5994	RFXAP	HP:0001260	Dysarthria
5994	RFXAP	HP:0025347	Decreased circulating beta-2-microglobulin level
5994	RFXAP	HP:0000010	Recurrent urinary tract infections
5994	RFXAP	HP:0000007	Autosomal recessive inheritance
5994	RFXAP	HP:0002783	Recurrent lower respiratory tract infections
5994	RFXAP	HP:0002788	Recurrent upper respiratory tract infections
5994	RFXAP	HP:0002718	Recurrent bacterial infections
5994	RFXAP	HP:0002728	Chronic mucocutaneous candidiasis
5994	RFXAP	HP:0002726	Recurrent Staphylococcus aureus infections
5994	RFXAP	HP:0002024	Malabsorption
5994	RFXAP	HP:0030991	Sclerosing cholangitis
5994	RFXAP	HP:0002014	Diarrhea
5994	RFXAP	HP:0002066	Gait ataxia
5994	RFXAP	HP:0004798	Recurrent infection of the gastrointestinal tract
5994	RFXAP	HP:0002205	Recurrent respiratory infections
5994	RFXAP	HP:0200124	Chronic hepatitis due to cryptosporidium infection
5994	RFXAP	HP:0007041	Chronic lymphocytic meningitis
5994	RFXAP	HP:0002383	Infectious encephalitis
5994	RFXAP	HP:0001080	Biliary tract abnormality
5994	RFXAP	HP:0001973	Autoimmune thrombocytopenia
5994	RFXAP	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
5994	RFXAP	HP:0001999	Abnormal facial shape
5994	RFXAP	HP:0004313	Decreased circulating antibody level
5994	RFXAP	HP:0004385	Protracted diarrhea
5994	RFXAP	HP:0011473	Villous atrophy
5994	RFXAP	HP:0004432	Agammaglobulinemia
5994	RFXAP	HP:0004429	Recurrent viral infections
5994	RFXAP	HP:0003139	Panhypogammaglobulinemia
5994	RFXAP	HP:0000988	Skin rash
5994	RFXAP	HP:0031390	Reduced MHC II surface expression
5994	RFXAP	HP:0031394	Abnormal CD4:CD8 ratio
5994	RFXAP	HP:0000246	Sinusitis
5994	RFXAP	HP:0001508	Failure to thrive
5994	RFXAP	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
5994	RFXAP	HP:0002841	Recurrent fungal infections
5994	RFXAP	HP:0012384	Rhinitis
5994	RFXAP	HP:0006562	Viral hepatitis
5994	RFXAP	HP:0000371	Acute otitis media
5994	RFXAP	HP:0030151	Cholangitis
5994	RFXAP	HP:0002960	Autoimmunity
5994	RFXAP	HP:0002965	Cutaneous anergy
5994	RFXAP	HP:0005386	Recurrent protozoan infections
5994	RFXAP	HP:0005354	Lack of T cell function
5994	RFXAP	HP:0005353	Recurrent herpes
5994	RFXAP	HP:0005368	Abnormality of humoral immunity
5994	RFXAP	HP:0005407	Decreased proportion of CD4-positive helper T cells
5994	RFXAP	HP:0005403	T lymphocytopenia
5994	RFXAP	HP:0005401	Recurrent candida infections
5994	RFXAP	HP:0001890	Autoimmune hemolytic anemia
5994	RFXAP	HP:0001876	Pancytopenia
5994	RFXAP	HP:0001875	Neutropenia
5995	RGR	HP:0001133	Constriction of peripheral visual field
5995	RGR	HP:0001249	Intellectual disability
5995	RGR	HP:0008736	Hypoplasia of penis
5995	RGR	HP:0001347	Hyperreflexia
5995	RGR	HP:0000035	Abnormal testis morphology
5995	RGR	HP:0000007	Autosomal recessive inheritance
5995	RGR	HP:0000006	Autosomal dominant inheritance
5995	RGR	HP:0000135	Hypogonadism
5995	RGR	HP:0007675	Progressive night blindness
5995	RGR	HP:0005978	Type II diabetes mellitus
5995	RGR	HP:0000639	Nystagmus
5995	RGR	HP:0000648	Optic atrophy
5995	RGR	HP:0000618	Blindness
5995	RGR	HP:0000613	Photophobia
5995	RGR	HP:0000602	Ophthalmoplegia
5995	RGR	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
5995	RGR	HP:0000842	Hyperinsulinemia
5995	RGR	HP:0000987	Atypical scarring of skin
5995	RGR	HP:0008046	Abnormal retinal vascular morphology
5995	RGR	HP:0007703	Abnormality of retinal pigmentation
5995	RGR	HP:0001513	Obesity
5995	RGR	HP:0007843	Attenuation of retinal blood vessels
5995	RGR	HP:0000407	Sensorineural hearing impairment
5995	RGR	HP:0000405	Conductive hearing impairment
5995	RGR	HP:0000463	Anteverted nares
5995	RGR	HP:0000431	Wide nasal bridge
5995	RGR	HP:0000518	Cataract
5995	RGR	HP:0000510	Rod-cone dystrophy
5995	RGR	HP:0000512	Abnormal electroretinogram
5995	RGR	HP:0000505	Visual impairment
5995	RGR	HP:0000501	Glaucoma
5995	RGR	HP:0000563	Keratoconus
6005	RHAG	HP:0032231	Hypochromia
6005	RHAG	HP:0032366	Positive direct antiglobulin test
6005	RHAG	HP:0000006	Autosomal dominant inheritance
6005	RHAG	HP:0025435	Increased circulating lactate dehydrogenase concentration
6005	RHAG	HP:0002789	Tachypnea
6005	RHAG	HP:0001433	Hepatosplenomegaly
6005	RHAG	HP:0008282	Unconjugated hyperbilirubinemia
6005	RHAG	HP:0003575	Increased intracellular sodium
6005	RHAG	HP:0002240	Hepatomegaly
6005	RHAG	HP:0001046	Intermittent jaundice
6005	RHAG	HP:0025065	Abnormal mean corpuscular volume
6005	RHAG	HP:0020181	Reduced haptoglobin level
6005	RHAG	HP:0005502	Increased red cell osmotic fragility
6005	RHAG	HP:0001977	Abnormal thrombosis
6005	RHAG	HP:0001972	Macrocytic anemia
6005	RHAG	HP:0001923	Reticulocytosis
6005	RHAG	HP:0004446	Stomatocytosis
6005	RHAG	HP:0004444	Spherocytosis
6005	RHAG	HP:0000952	Jaundice
6005	RHAG	HP:0025547	Decreased mean corpuscular hemoglobin concentration
6005	RHAG	HP:0001562	Oligohydramnios
6005	RHAG	HP:0001511	Intrauterine growth retardation
6005	RHAG	HP:0005268	Miscarriage
6005	RHAG	HP:0002904	Hyperbilirubinemia
6005	RHAG	HP:0001649	Tachycardia
6005	RHAG	HP:0012418	Hypoxemia
6005	RHAG	HP:0001744	Splenomegaly
6005	RHAG	HP:0011273	Anisocytosis
6005	RHAG	HP:0001878	Hemolytic anemia
6006	RHCE	HP:0032231	Hypochromia
6006	RHCE	HP:0032366	Positive direct antiglobulin test
6006	RHCE	HP:0025435	Increased circulating lactate dehydrogenase concentration
6006	RHCE	HP:0002789	Tachypnea
6006	RHCE	HP:0001433	Hepatosplenomegaly
6006	RHCE	HP:0020181	Reduced haptoglobin level
6006	RHCE	HP:0005502	Increased red cell osmotic fragility
6006	RHCE	HP:0001972	Macrocytic anemia
6006	RHCE	HP:0001923	Reticulocytosis
6006	RHCE	HP:0004446	Stomatocytosis
6006	RHCE	HP:0004444	Spherocytosis
6006	RHCE	HP:0000952	Jaundice
6006	RHCE	HP:0001562	Oligohydramnios
6006	RHCE	HP:0001511	Intrauterine growth retardation
6006	RHCE	HP:0005268	Miscarriage
6006	RHCE	HP:0002904	Hyperbilirubinemia
6006	RHCE	HP:0001649	Tachycardia
6006	RHCE	HP:0012418	Hypoxemia
6006	RHCE	HP:0011273	Anisocytosis
6006	RHCE	HP:0001878	Hemolytic anemia
6007	RHD	HP:0032231	Hypochromia
6007	RHD	HP:0032366	Positive direct antiglobulin test
6007	RHD	HP:0001343	Kernicterus
6007	RHD	HP:0025435	Increased circulating lactate dehydrogenase concentration
6007	RHD	HP:0002789	Tachypnea
6007	RHD	HP:0001433	Hepatosplenomegaly
6007	RHD	HP:0002240	Hepatomegaly
6007	RHD	HP:0020181	Reduced haptoglobin level
6007	RHD	HP:0005502	Increased red cell osmotic fragility
6007	RHD	HP:0001972	Macrocytic anemia
6007	RHD	HP:0001923	Reticulocytosis
6007	RHD	HP:0004446	Stomatocytosis
6007	RHD	HP:0004444	Spherocytosis
6007	RHD	HP:0000952	Jaundice
6007	RHD	HP:0001562	Oligohydramnios
6007	RHD	HP:0001561	Polyhydramnios
6007	RHD	HP:0001511	Intrauterine growth retardation
6007	RHD	HP:0025671	Fetal pericardial effusion
6007	RHD	HP:0025676	Fetal pleural effusion
6007	RHD	HP:0005268	Miscarriage
6007	RHD	HP:0002904	Hyperbilirubinemia
6007	RHD	HP:0001649	Tachycardia
6007	RHD	HP:0001791	Fetal ascites
6007	RHD	HP:0001789	Hydrops fetalis
6007	RHD	HP:0012418	Hypoxemia
6007	RHD	HP:0001744	Splenomegaly
6007	RHD	HP:0011273	Anisocytosis
6007	RHD	HP:0001878	Hemolytic anemia
6010	RHO	HP:0001142	Lenticonus
6010	RHO	HP:0001105	Retinal atrophy
6010	RHO	HP:0001123	Visual field defect
6010	RHO	HP:0001249	Intellectual disability
6010	RHO	HP:0007401	Macular atrophy
6010	RHO	HP:0008736	Hypoplasia of penis
6010	RHO	HP:0012045	Retinal flecks
6010	RHO	HP:0001347	Hyperreflexia
6010	RHO	HP:0000035	Abnormal testis morphology
6010	RHO	HP:0000007	Autosomal recessive inheritance
6010	RHO	HP:0000006	Autosomal dominant inheritance
6010	RHO	HP:0000135	Hypogonadism
6010	RHO	HP:0007675	Progressive night blindness
6010	RHO	HP:0007663	Reduced visual acuity
6010	RHO	HP:0007642	Congenital stationary night blindness
6010	RHO	HP:0005978	Type II diabetes mellitus
6010	RHO	HP:0008323	Abnormal light- and dark-adapted electroretinogram
6010	RHO	HP:0008527	Congenital sensorineural hearing impairment
6010	RHO	HP:0030506	Yellow/white lesions of the retina
6010	RHO	HP:0000639	Nystagmus
6010	RHO	HP:0000648	Optic atrophy
6010	RHO	HP:0000618	Blindness
6010	RHO	HP:0000613	Photophobia
6010	RHO	HP:0000602	Ophthalmoplegia
6010	RHO	HP:0000603	Central scotoma
6010	RHO	HP:0030469	Abnormal dark-adapted electroretinogram
6010	RHO	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
6010	RHO	HP:0000662	Nyctalopia
6010	RHO	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
6010	RHO	HP:0030639	Congenital stationary night blindness with abnormal fundus
6010	RHO	HP:0030638	Congenital stationary night blindness with normal fundus
6010	RHO	HP:0030642	Fundus albipunctatus
6010	RHO	HP:0011463	Childhood onset
6010	RHO	HP:0011505	Cystoid macular edema
6010	RHO	HP:0000842	Hyperinsulinemia
6010	RHO	HP:0030825	Absent foveal reflex
6010	RHO	HP:0000987	Atypical scarring of skin
6010	RHO	HP:0008046	Abnormal retinal vascular morphology
6010	RHO	HP:0007703	Abnormality of retinal pigmentation
6010	RHO	HP:0007737	Bone spicule pigmentation of the retina
6010	RHO	HP:0001513	Obesity
6010	RHO	HP:0007843	Attenuation of retinal blood vessels
6010	RHO	HP:0007814	Retinal pigment epithelial mottling
6010	RHO	HP:0031605	Abnormality of fundus pigmentation
6010	RHO	HP:0030329	Retinal thinning
6010	RHO	HP:0007994	Peripheral visual field loss
6010	RHO	HP:0007984	Electronegative electroretinogram
6010	RHO	HP:0007987	Progressive visual field defects
6010	RHO	HP:0000407	Sensorineural hearing impairment
6010	RHO	HP:0000405	Conductive hearing impairment
6010	RHO	HP:0000486	Strabismus
6010	RHO	HP:0000463	Anteverted nares
6010	RHO	HP:0000431	Wide nasal bridge
6010	RHO	HP:0031705	Compensatory head posture
6010	RHO	HP:0000518	Cataract
6010	RHO	HP:0000510	Rod-cone dystrophy
6010	RHO	HP:0000512	Abnormal electroretinogram
6010	RHO	HP:0000529	Progressive visual loss
6010	RHO	HP:0000505	Visual impairment
6010	RHO	HP:0000501	Glaucoma
6010	RHO	HP:0000580	Pigmentary retinopathy
6010	RHO	HP:0000563	Keratoconus
6010	RHO	HP:0000540	Hypermetropia
6010	RHO	HP:0000551	Color vision defect
6010	RHO	HP:0000545	Myopia
6011	GRK1	HP:0001123	Visual field defect
6011	GRK1	HP:0000007	Autosomal recessive inheritance
6011	GRK1	HP:0007663	Reduced visual acuity
6011	GRK1	HP:0007641	Dyschromatopsia
6011	GRK1	HP:0007642	Congenital stationary night blindness
6011	GRK1	HP:0000639	Nystagmus
6011	GRK1	HP:0000651	Diplopia
6011	GRK1	HP:0000608	Macular degeneration
6011	GRK1	HP:0030469	Abnormal dark-adapted electroretinogram
6011	GRK1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
6011	GRK1	HP:0000662	Nyctalopia
6011	GRK1	HP:0030639	Congenital stationary night blindness with abnormal fundus
6011	GRK1	HP:0030638	Congenital stationary night blindness with normal fundus
6011	GRK1	HP:0030824	Mizuo phenomenon
6011	GRK1	HP:0007703	Abnormality of retinal pigmentation
6011	GRK1	HP:0030329	Retinal thinning
6011	GRK1	HP:0007984	Electronegative electroretinogram
6011	GRK1	HP:0000486	Strabismus
6011	GRK1	HP:0031705	Compensatory head posture
6011	GRK1	HP:0000510	Rod-cone dystrophy
6011	GRK1	HP:0000505	Visual impairment
6011	GRK1	HP:0000540	Hypermetropia
6011	GRK1	HP:0000539	Abnormality of refraction
6011	GRK1	HP:0000551	Color vision defect
6011	GRK1	HP:0000545	Myopia
6016	RIT1	HP:0001156	Brachydactyly
6016	RIT1	HP:0001252	Hypotonia
6016	RIT1	HP:0001249	Intellectual disability
6016	RIT1	HP:0001260	Dysarthria
6016	RIT1	HP:0000078	Abnormality of the genital system
6016	RIT1	HP:0000044	Hypogonadotropic hypogonadism
6016	RIT1	HP:0000028	Cryptorchidism
6016	RIT1	HP:0008872	Feeding difficulties in infancy
6016	RIT1	HP:0007517	Palmoplantar cutis laxa
6016	RIT1	HP:0007477	Abnormal dermatoglyphics
6016	RIT1	HP:0001324	Muscle weakness
6016	RIT1	HP:0000006	Autosomal dominant inheritance
6016	RIT1	HP:0002650	Scoliosis
6016	RIT1	HP:0000179	Thick lower lip vermilion
6016	RIT1	HP:0002750	Delayed skeletal maturation
6016	RIT1	HP:0011800	Midface retrusion
6016	RIT1	HP:0002167	Abnormality of speech or vocalization
6016	RIT1	HP:0002162	Low posterior hairline
6016	RIT1	HP:0011869	Abnormal platelet function
6016	RIT1	HP:0002240	Hepatomegaly
6016	RIT1	HP:0002202	Pleural effusion
6016	RIT1	HP:0002212	Curly hair
6016	RIT1	HP:0002208	Coarse hair
6016	RIT1	HP:0100763	Abnormality of the lymphatic system
6016	RIT1	HP:0011968	Feeding difficulties
6016	RIT1	HP:0001004	Lymphedema
6016	RIT1	HP:0100625	Enlarged thorax
6016	RIT1	HP:0004209	Clinodactyly of the 5th finger
6016	RIT1	HP:0000639	Nystagmus
6016	RIT1	HP:0001928	Abnormality of coagulation
6016	RIT1	HP:0011381	Aplasia of the semicircular canal
6016	RIT1	HP:0011362	Abnormal hair quantity
6016	RIT1	HP:0004322	Short stature
6016	RIT1	HP:0030680	Abnormality of cardiovascular system morphology
6016	RIT1	HP:0005692	Joint hyperflexibility
6016	RIT1	HP:0000767	Pectus excavatum
6016	RIT1	HP:0000766	Abnormal sternum morphology
6016	RIT1	HP:0000768	Pectus carinatum
6016	RIT1	HP:0004415	Pulmonary artery stenosis
6016	RIT1	HP:0004482	Relative macrocephaly
6016	RIT1	HP:0000995	Melanocytic nevus
6016	RIT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
6016	RIT1	HP:0000974	Hyperextensible skin
6016	RIT1	HP:0000953	Hyperpigmentation of the skin
6016	RIT1	HP:0000964	Eczema
6016	RIT1	HP:0000962	Hyperkeratosis
6016	RIT1	HP:0011675	Arrhythmia
6016	RIT1	HP:0000286	Epicanthus
6016	RIT1	HP:0000218	High palate
6016	RIT1	HP:0001561	Polyhydramnios
6016	RIT1	HP:0001508	Failure to thrive
6016	RIT1	HP:0001520	Large for gestational age
6016	RIT1	HP:0000391	Thickened helices
6016	RIT1	HP:0000369	Low-set ears
6016	RIT1	HP:0000368	Low-set, posteriorly rotated ears
6016	RIT1	HP:0000348	High forehead
6016	RIT1	HP:0000347	Micrognathia
6016	RIT1	HP:0000316	Hypertelorism
6016	RIT1	HP:0001643	Patent ductus arteriosus
6016	RIT1	HP:0001642	Pulmonic stenosis
6016	RIT1	HP:0002974	Radioulnar synostosis
6016	RIT1	HP:0001653	Mitral regurgitation
6016	RIT1	HP:0000325	Triangular face
6016	RIT1	HP:0001629	Ventricular septal defect
6016	RIT1	HP:0001641	Abnormal pulmonary valve morphology
6016	RIT1	HP:0001639	Hypertrophic cardiomyopathy
6016	RIT1	HP:0001631	Atrial septal defect
6016	RIT1	HP:0006610	Wide intermamillary distance
6016	RIT1	HP:0000407	Sensorineural hearing impairment
6016	RIT1	HP:0001712	Left ventricular hypertrophy
6016	RIT1	HP:0000486	Strabismus
6016	RIT1	HP:0000476	Cystic hygroma
6016	RIT1	HP:0000494	Downslanted palpebral fissures
6016	RIT1	HP:0000474	Thickened nuchal skin fold
6016	RIT1	HP:0000470	Short neck
6016	RIT1	HP:0000465	Webbed neck
6016	RIT1	HP:0001743	Abnormality of the spleen
6016	RIT1	HP:0000520	Proptosis
6016	RIT1	HP:0000508	Ptosis
6016	RIT1	HP:0001892	Abnormal bleeding
6017	RLBP1	HP:0001129	Large central visual field defect
6017	RLBP1	HP:0001142	Lenticonus
6017	RLBP1	HP:0001105	Retinal atrophy
6017	RLBP1	HP:0001123	Visual field defect
6017	RLBP1	HP:0001249	Intellectual disability
6017	RLBP1	HP:0007401	Macular atrophy
6017	RLBP1	HP:0008736	Hypoplasia of penis
6017	RLBP1	HP:0012045	Retinal flecks
6017	RLBP1	HP:0001347	Hyperreflexia
6017	RLBP1	HP:0000035	Abnormal testis morphology
6017	RLBP1	HP:0000007	Autosomal recessive inheritance
6017	RLBP1	HP:0000006	Autosomal dominant inheritance
6017	RLBP1	HP:0000135	Hypogonadism
6017	RLBP1	HP:0007675	Progressive night blindness
6017	RLBP1	HP:0005978	Type II diabetes mellitus
6017	RLBP1	HP:0008323	Abnormal light- and dark-adapted electroretinogram
6017	RLBP1	HP:0008527	Congenital sensorineural hearing impairment
6017	RLBP1	HP:0032118	Retinitis
6017	RLBP1	HP:0030506	Yellow/white lesions of the retina
6017	RLBP1	HP:0030529	Ring scotoma
6017	RLBP1	HP:0030528	Paracentral scotoma
6017	RLBP1	HP:0000639	Nystagmus
6017	RLBP1	HP:0000648	Optic atrophy
6017	RLBP1	HP:0000618	Blindness
6017	RLBP1	HP:0000613	Photophobia
6017	RLBP1	HP:0000610	Abnormal choroid morphology
6017	RLBP1	HP:0000608	Macular degeneration
6017	RLBP1	HP:0000602	Ophthalmoplegia
6017	RLBP1	HP:0000603	Central scotoma
6017	RLBP1	HP:0030469	Abnormal dark-adapted electroretinogram
6017	RLBP1	HP:0030474	Undetectable dark-adapted electroretinogram
6017	RLBP1	HP:0000662	Nyctalopia
6017	RLBP1	HP:0030618	Increased OCT-measured foveal thickness
6017	RLBP1	HP:0030642	Fundus albipunctatus
6017	RLBP1	HP:0011505	Cystoid macular edema
6017	RLBP1	HP:0000842	Hyperinsulinemia
6017	RLBP1	HP:0030825	Absent foveal reflex
6017	RLBP1	HP:0000987	Atypical scarring of skin
6017	RLBP1	HP:0008046	Abnormal retinal vascular morphology
6017	RLBP1	HP:0007722	Retinal pigment epithelial atrophy
6017	RLBP1	HP:0007703	Abnormality of retinal pigmentation
6017	RLBP1	HP:0007737	Bone spicule pigmentation of the retina
6017	RLBP1	HP:0001513	Obesity
6017	RLBP1	HP:0007843	Attenuation of retinal blood vessels
6017	RLBP1	HP:0007814	Retinal pigment epithelial mottling
6017	RLBP1	HP:0031605	Abnormality of fundus pigmentation
6017	RLBP1	HP:0007994	Peripheral visual field loss
6017	RLBP1	HP:0007984	Electronegative electroretinogram
6017	RLBP1	HP:0007987	Progressive visual field defects
6017	RLBP1	HP:0000407	Sensorineural hearing impairment
6017	RLBP1	HP:0000405	Conductive hearing impairment
6017	RLBP1	HP:0000493	Abnormal foveal morphology
6017	RLBP1	HP:0000463	Anteverted nares
6017	RLBP1	HP:0000431	Wide nasal bridge
6017	RLBP1	HP:0000518	Cataract
6017	RLBP1	HP:0000510	Rod-cone dystrophy
6017	RLBP1	HP:0000512	Abnormal electroretinogram
6017	RLBP1	HP:0000529	Progressive visual loss
6017	RLBP1	HP:0000505	Visual impairment
6017	RLBP1	HP:0000501	Glaucoma
6017	RLBP1	HP:0000580	Pigmentary retinopathy
6017	RLBP1	HP:0000575	Scotoma
6017	RLBP1	HP:0000563	Keratoconus
6017	RLBP1	HP:0000556	Retinal dystrophy
6017	RLBP1	HP:0000539	Abnormality of refraction
6017	RLBP1	HP:0000551	Color vision defect
6017	RLBP1	HP:0000546	Retinal degeneration
6023	RMRP	HP:0001156	Brachydactyly
6023	RMRP	HP:0100806	Sepsis
6023	RMRP	HP:0001252	Hypotonia
6023	RMRP	HP:0001249	Intellectual disability
6023	RMRP	HP:0001263	Global developmental delay
6023	RMRP	HP:0100840	Aplasia/Hypoplasia of the eyebrow
6023	RMRP	HP:0031087	Absent pubertal growth spurt
6023	RMRP	HP:0006028	Metaphyseal cupping of metacarpals
6023	RMRP	HP:0001216	Delayed ossification of carpal bones
6023	RMRP	HP:0001377	Limited elbow extension
6023	RMRP	HP:0001388	Joint laxity
6023	RMRP	HP:0001382	Joint hypermobility
6023	RMRP	HP:0002680	J-shaped sella turcica
6023	RMRP	HP:0007549	Desquamation of skin soon after birth
6023	RMRP	HP:0008873	Disproportionate short-limb short stature
6023	RMRP	HP:0007464	Sparse facial hair
6023	RMRP	HP:0002671	Basal cell carcinoma
6023	RMRP	HP:0000007	Autosomal recessive inheritance
6023	RMRP	HP:0002665	Lymphoma
6023	RMRP	HP:0002652	Skeletal dysplasia
6023	RMRP	HP:0002650	Scoliosis
6023	RMRP	HP:0001315	Reduced tendon reflexes
6023	RMRP	HP:0002644	Abnormal pelvic girdle bone morphology
6023	RMRP	HP:0008921	Neonatal short-limb short stature
6023	RMRP	HP:0008905	Rhizomelia
6023	RMRP	HP:0000158	Macroglossia
6023	RMRP	HP:0000174	Abnormal palate morphology
6023	RMRP	HP:0005019	Diaphyseal thickening
6023	RMRP	HP:0002777	Tracheal stenosis
6023	RMRP	HP:0000100	Nephrotic syndrome
6023	RMRP	HP:0002750	Delayed skeletal maturation
6023	RMRP	HP:0002719	Recurrent infections
6023	RMRP	HP:0002716	Lymphadenopathy
6023	RMRP	HP:0002721	Immunodeficiency
6023	RMRP	HP:0002025	Anal stenosis
6023	RMRP	HP:0002024	Malabsorption
6023	RMRP	HP:0002019	Constipation
6023	RMRP	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
6023	RMRP	HP:0002032	Esophageal atresia
6023	RMRP	HP:0002028	Chronic diarrhea
6023	RMRP	HP:0003312	Abnormal form of the vertebral bodies
6023	RMRP	HP:0003311	Hypoplasia of the odontoid process
6023	RMRP	HP:0003307	Hyperlordosis
6023	RMRP	HP:0003308	Cervical subluxation
6023	RMRP	HP:0004625	Biconvex vertebral bodies
6023	RMRP	HP:0100543	Cognitive impairment
6023	RMRP	HP:0002093	Respiratory insufficiency
6023	RMRP	HP:0002090	Pneumonia
6023	RMRP	HP:0100569	Abnormally ossified vertebrae
6023	RMRP	HP:0005930	Abnormal epiphysis morphology
6023	RMRP	HP:0008155	Mucopolysacchariduria
6023	RMRP	HP:0003414	Atlantoaxial dislocation
6023	RMRP	HP:0011849	Abnormal bone ossification
6023	RMRP	HP:0010585	Small epiphyses
6023	RMRP	HP:0003593	Infantile onset
6023	RMRP	HP:0003577	Congenital onset
6023	RMRP	HP:0002240	Hepatomegaly
6023	RMRP	HP:0002251	Aganglionic megacolon
6023	RMRP	HP:0002213	Fine hair
6023	RMRP	HP:0100729	Large face
6023	RMRP	HP:0002286	Fair hair
6023	RMRP	HP:0003510	Severe short stature
6023	RMRP	HP:0004810	Congenital hypoplastic anemia
6023	RMRP	HP:0002341	Cervical cord compression
6023	RMRP	HP:0002353	EEG abnormality
6023	RMRP	HP:0001019	Erythroderma
6023	RMRP	HP:0100646	Thyroiditis
6023	RMRP	HP:0009832	Abnormal distal phalanx morphology of finger
6023	RMRP	HP:0001072	Thickened skin
6023	RMRP	HP:0200055	Small hand
6023	RMRP	HP:0008499	High hypermetropia
6023	RMRP	HP:0008450	Narrow vertebral interpedicular distance
6023	RMRP	HP:0004279	Short palm
6023	RMRP	HP:0001972	Macrocytic anemia
6023	RMRP	HP:0001974	Leukocytosis
6023	RMRP	HP:0001945	Fever
6023	RMRP	HP:0001903	Anemia
6023	RMRP	HP:0010049	Short metacarpal
6023	RMRP	HP:0000691	Microdontia
6023	RMRP	HP:0000653	Sparse eyelashes
6023	RMRP	HP:0000668	Hypodontia
6023	RMRP	HP:0001999	Abnormal facial shape
6023	RMRP	HP:0004322	Short stature
6023	RMRP	HP:0004332	Abnormal lymphocyte morphology
6023	RMRP	HP:0004313	Decreased circulating antibody level
6023	RMRP	HP:0005616	Accelerated skeletal maturation
6023	RMRP	HP:0005692	Joint hyperflexibility
6023	RMRP	HP:0034198	Second trimester onset
6023	RMRP	HP:0003015	Flared metaphysis
6023	RMRP	HP:0003016	Metaphyseal widening
6023	RMRP	HP:0003026	Short long bone
6023	RMRP	HP:0003027	Mesomelia
6023	RMRP	HP:0003025	Metaphyseal irregularity
6023	RMRP	HP:0003021	Metaphyseal cupping
6023	RMRP	HP:0000772	Abnormal rib morphology
6023	RMRP	HP:0000768	Pectus carinatum
6023	RMRP	HP:0012722	Heart block
6023	RMRP	HP:0011463	Childhood onset
6023	RMRP	HP:0000774	Narrow chest
6023	RMRP	HP:0004430	Severe combined immunodeficiency
6023	RMRP	HP:0000925	Abnormality of the vertebral column
6023	RMRP	HP:0000926	Platyspondyly
6023	RMRP	HP:0000884	Prominent sternum
6023	RMRP	HP:0000821	Hypothyroidism
6023	RMRP	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
6023	RMRP	HP:0005871	Metaphyseal chondrodysplasia
6023	RMRP	HP:0003220	Abnormality of chromosome stability
6023	RMRP	HP:0003273	Hip contracture
6023	RMRP	HP:0003272	Abnormal hip bone morphology
6023	RMRP	HP:0045075	Sparse eyebrow
6023	RMRP	HP:0100255	Metaphyseal dysplasia
6023	RMRP	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
6023	RMRP	HP:0010301	Spinal dysraphism
6023	RMRP	HP:0010306	Short thorax
6023	RMRP	HP:0000989	Pruritus
6023	RMRP	HP:0000958	Dry skin
6023	RMRP	HP:0000969	Edema
6023	RMRP	HP:0000960	Sacral dimple
6023	RMRP	HP:0000946	Hypoplastic ilia
6023	RMRP	HP:0000944	Abnormal metaphysis morphology
6023	RMRP	HP:0000940	Abnormal diaphysis morphology
6023	RMRP	HP:0008070	Sparse hair
6023	RMRP	HP:0009381	Short finger
6023	RMRP	HP:0008056	Aplasia/Hypoplasia affecting the eye
6023	RMRP	HP:0007703	Abnormality of retinal pigmentation
6023	RMRP	HP:0000286	Epicanthus
6023	RMRP	HP:0001595	Abnormal hair morphology
6023	RMRP	HP:0001596	Alopecia
6023	RMRP	HP:0002812	Coxa vara
6023	RMRP	HP:0000248	Brachycephaly
6023	RMRP	HP:0001552	Barrel-shaped chest
6023	RMRP	HP:0000212	Gingival overgrowth
6023	RMRP	HP:0001555	Asymmetry of the thorax
6023	RMRP	HP:0031367	Metaphyseal striations
6023	RMRP	HP:0001508	Failure to thrive
6023	RMRP	HP:0001511	Intrauterine growth retardation
6023	RMRP	HP:0006589	Flaring of lower rib cage
6023	RMRP	HP:0002938	Lumbar hyperlordosis
6023	RMRP	HP:0002942	Thoracic kyphosis
6023	RMRP	HP:0002901	Hypocalcemia
6023	RMRP	HP:0006487	Bowing of the long bones
6023	RMRP	HP:0000368	Low-set, posteriorly rotated ears
6023	RMRP	HP:0001671	Abnormal cardiac septum morphology
6023	RMRP	HP:0001650	Aortic valve stenosis
6023	RMRP	HP:0002982	Tibial bowing
6023	RMRP	HP:0002983	Micromelia
6023	RMRP	HP:0002980	Femoral bowing
6023	RMRP	HP:0000316	Hypertelorism
6023	RMRP	HP:0002987	Elbow flexion contracture
6023	RMRP	HP:0002960	Autoimmunity
6023	RMRP	HP:0001623	Breech presentation
6023	RMRP	HP:0002970	Genu varum
6023	RMRP	HP:0001638	Cardiomyopathy
6023	RMRP	HP:0000307	Pointed chin
6023	RMRP	HP:0000303	Mandibular prognathia
6023	RMRP	HP:0005374	Cellular immunodeficiency
6023	RMRP	HP:0005360	Susceptibility to chickenpox
6023	RMRP	HP:0000400	Macrotia
6023	RMRP	HP:0001732	Abnormality of the pancreas
6023	RMRP	HP:0005280	Depressed nasal bridge
6023	RMRP	HP:0000486	Strabismus
6023	RMRP	HP:0000463	Anteverted nares
6023	RMRP	HP:0000457	Depressed nasal ridge
6023	RMRP	HP:0000470	Short neck
6023	RMRP	HP:0001773	Short foot
6023	RMRP	HP:0000444	Convex nasal ridge
6023	RMRP	HP:0001744	Splenomegaly
6023	RMRP	HP:0000431	Wide nasal bridge
6023	RMRP	HP:0000505	Visual impairment
6023	RMRP	HP:0001831	Short toe
6023	RMRP	HP:0000592	Blue sclerae
6023	RMRP	HP:0011220	Prominent forehead
6023	RMRP	HP:0001888	Lymphopenia
6023	RMRP	HP:0001880	Eosinophilia
6023	RMRP	HP:0000545	Myopia
6023	RMRP	HP:0001875	Neutropenia
6041	RNASEL	HP:0000006	Autosomal dominant inheritance
6041	RNASEL	HP:0012125	Prostate cancer
6041	RNASEL	HP:0003581	Adult onset
6045	RNF2	HP:0010864	Intellectual disability, severe
6045	RNF2	HP:0001250	Seizure
6045	RNF2	HP:0001252	Hypotonia
6045	RNF2	HP:0002553	Highly arched eyebrow
6045	RNF2	HP:0001347	Hyperreflexia
6045	RNF2	HP:0008872	Feeding difficulties in infancy
6045	RNF2	HP:0000006	Autosomal dominant inheritance
6045	RNF2	HP:0000160	Narrow mouth
6045	RNF2	HP:0000154	Wide mouth
6045	RNF2	HP:0007651	Ectropion of lower eyelids
6045	RNF2	HP:0200055	Small hand
6045	RNF2	HP:0011344	Severe global developmental delay
6045	RNF2	HP:0011461	Fetal onset
6045	RNF2	HP:0011451	Primary microcephaly
6045	RNF2	HP:0001566	Widely-spaced maxillary central incisors
6045	RNF2	HP:0001562	Oligohydramnios
6045	RNF2	HP:0001537	Umbilical hernia
6045	RNF2	HP:0001508	Failure to thrive
6045	RNF2	HP:0001511	Intrauterine growth retardation
6045	RNF2	HP:0000377	Abnormal pinna morphology
6045	RNF2	HP:0007874	Almond-shaped palpebral fissure
6045	RNF2	HP:0005180	Tricuspid regurgitation
6045	RNF2	HP:0000316	Hypertelorism
6045	RNF2	HP:0000322	Short philtrum
6045	RNF2	HP:0000403	Recurrent otitis media
6045	RNF2	HP:0005280	Depressed nasal bridge
6045	RNF2	HP:0000483	Astigmatism
6045	RNF2	HP:0000486	Strabismus
6045	RNF2	HP:0012471	Thick vermilion border
6045	RNF2	HP:0000490	Deeply set eye
6045	RNF2	HP:0000463	Anteverted nares
6045	RNF2	HP:0001773	Short foot
6045	RNF2	HP:0000445	Wide nose
6045	RNF2	HP:0000527	Long eyelashes
6045	RNF2	HP:0000577	Exotropia
6049	RNF6	HP:0008872	Feeding difficulties in infancy
6049	RNF6	HP:0001428	Somatic mutation
6049	RNF6	HP:0002716	Lymphadenopathy
6049	RNF6	HP:0002017	Nausea and vomiting
6049	RNF6	HP:0100749	Chest pain
6049	RNF6	HP:0012735	Cough
6049	RNF6	HP:0011459	Esophageal carcinoma
6049	RNF6	HP:0001608	Abnormality of the voice
6049	RNF6	HP:0001864	Clinodactyly of the 5th toe
6091	ROBO1	HP:0001250	Seizure
6091	ROBO1	HP:0001249	Intellectual disability
6091	ROBO1	HP:0001263	Global developmental delay
6091	ROBO1	HP:0100842	Septo-optic dysplasia
6091	ROBO1	HP:0008736	Hypoplasia of penis
6091	ROBO1	HP:0000028	Cryptorchidism
6091	ROBO1	HP:0011755	Ectopic posterior pituitary
6091	ROBO1	HP:0001943	Hypoglycemia
6091	ROBO1	HP:0004322	Short stature
6091	ROBO1	HP:0000786	Primary amenorrhea
6091	ROBO1	HP:0000873	Diabetes insipidus
6091	ROBO1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
6091	ROBO1	HP:0000835	Adrenal hypoplasia
6091	ROBO1	HP:0000821	Hypothyroidism
6091	ROBO1	HP:0000823	Delayed puberty
6091	ROBO1	HP:0001522	Death in infancy
6091	ROBO1	HP:0001508	Failure to thrive
6092	ROBO2	HP:0000089	Renal hypoplasia
6092	ROBO2	HP:0000076	Vesicoureteral reflux
6092	ROBO2	HP:0000006	Autosomal dominant inheritance
6094	ROM1	HP:0001133	Constriction of peripheral visual field
6094	ROM1	HP:0001249	Intellectual disability
6094	ROM1	HP:0008736	Hypoplasia of penis
6094	ROM1	HP:0001347	Hyperreflexia
6094	ROM1	HP:0000035	Abnormal testis morphology
6094	ROM1	HP:0000007	Autosomal recessive inheritance
6094	ROM1	HP:0000006	Autosomal dominant inheritance
6094	ROM1	HP:0000135	Hypogonadism
6094	ROM1	HP:0007675	Progressive night blindness
6094	ROM1	HP:0001419	X-linked recessive inheritance
6094	ROM1	HP:0005978	Type II diabetes mellitus
6094	ROM1	HP:0000639	Nystagmus
6094	ROM1	HP:0000648	Optic atrophy
6094	ROM1	HP:0000618	Blindness
6094	ROM1	HP:0000613	Photophobia
6094	ROM1	HP:0000602	Ophthalmoplegia
6094	ROM1	HP:0000662	Nyctalopia
6094	ROM1	HP:0000842	Hyperinsulinemia
6094	ROM1	HP:0000987	Atypical scarring of skin
6094	ROM1	HP:0008046	Abnormal retinal vascular morphology
6094	ROM1	HP:0007703	Abnormality of retinal pigmentation
6094	ROM1	HP:0001513	Obesity
6094	ROM1	HP:0007843	Attenuation of retinal blood vessels
6094	ROM1	HP:0007830	Adult-onset night blindness
6094	ROM1	HP:0031605	Abnormality of fundus pigmentation
6094	ROM1	HP:0000407	Sensorineural hearing impairment
6094	ROM1	HP:0000405	Conductive hearing impairment
6094	ROM1	HP:0000463	Anteverted nares
6094	ROM1	HP:0000431	Wide nasal bridge
6094	ROM1	HP:0000518	Cataract
6094	ROM1	HP:0000510	Rod-cone dystrophy
6094	ROM1	HP:0000512	Abnormal electroretinogram
6094	ROM1	HP:0000505	Visual impairment
6094	ROM1	HP:0000501	Glaucoma
6094	ROM1	HP:0000580	Pigmentary retinopathy
6094	ROM1	HP:0000563	Keratoconus
6094	ROM1	HP:0000533	Chorioretinal atrophy
6095	RORA	HP:0007256	Abnormal pyramidal sign
6095	RORA	HP:0001290	Generalized hypotonia
6095	RORA	HP:0001270	Motor delay
6095	RORA	HP:0001250	Seizure
6095	RORA	HP:0001251	Ataxia
6095	RORA	HP:0001249	Intellectual disability
6095	RORA	HP:0001263	Global developmental delay
6095	RORA	HP:0012076	Borderline personality disorder
6095	RORA	HP:0000028	Cryptorchidism
6095	RORA	HP:0001337	Tremor
6095	RORA	HP:0000006	Autosomal dominant inheritance
6095	RORA	HP:0001321	Cerebellar hypoplasia
6095	RORA	HP:0000126	Hydronephrosis
6095	RORA	HP:0002079	Hypoplasia of the corpus callosum
6095	RORA	HP:0025097	Eyelid myoclonus
6095	RORA	HP:0002311	Incoordination
6095	RORA	HP:0006879	Pontocerebellar atrophy
6095	RORA	HP:0000639	Nystagmus
6095	RORA	HP:0000646	Amblyopia
6095	RORA	HP:0000657	Oculomotor apraxia
6095	RORA	HP:0031936	Delayed ability to walk
6095	RORA	HP:0000750	Delayed speech and language development
6095	RORA	HP:0000729	Autistic behavior
6095	RORA	HP:0003298	Spina bifida occulta
6095	RORA	HP:0000486	Strabismus
6095	RORA	HP:0012450	Chronic constipation
6095	RORA	HP:0000565	Esotropia
6095	RORA	HP:0000540	Hypermetropia
6096	RORB	HP:0001250	Seizure
6096	RORB	HP:0001263	Global developmental delay
6096	RORB	HP:0003829	Typified by incomplete penetrance
6096	RORB	HP:0000006	Autosomal dominant inheritance
6096	RORB	HP:0001336	Myoclonus
6096	RORB	HP:0002069	Bilateral tonic-clonic seizure
6096	RORB	HP:0002121	Generalized non-motor (absence) seizure
6096	RORB	HP:0003593	Infantile onset
6096	RORB	HP:0025097	Eyelid myoclonus
6096	RORB	HP:0003621	Juvenile onset
6096	RORB	HP:0000750	Delayed speech and language development
6096	RORB	HP:0000718	Aggressive behavior
6096	RORB	HP:0011463	Childhood onset
6096	RORB	HP:0000992	Cutaneous photosensitivity
6097	RORC	HP:0000007	Autosomal recessive inheritance
6097	RORC	HP:0003593	Infantile onset
6097	RORC	HP:0002240	Hepatomegaly
6097	RORC	HP:0020087	BCGosis
6097	RORC	HP:0009098	Chronic oral candidiasis
6097	RORC	HP:0011370	Recurrent cutaneous fungal infections
6097	RORC	HP:0011463	Childhood onset
6097	RORC	HP:0000778	Hypoplasia of the thymus
6097	RORC	HP:0011107	Recurrent aphthous stomatitis
6097	RORC	HP:0001744	Splenomegaly
6100	RP9	HP:0001133	Constriction of peripheral visual field
6100	RP9	HP:0001249	Intellectual disability
6100	RP9	HP:0007401	Macular atrophy
6100	RP9	HP:0008736	Hypoplasia of penis
6100	RP9	HP:0001347	Hyperreflexia
6100	RP9	HP:0000035	Abnormal testis morphology
6100	RP9	HP:0000006	Autosomal dominant inheritance
6100	RP9	HP:0000135	Hypogonadism
6100	RP9	HP:0007688	Undetectable light- and dark-adapted electroretinogram
6100	RP9	HP:0007675	Progressive night blindness
6100	RP9	HP:0005978	Type II diabetes mellitus
6100	RP9	HP:0000639	Nystagmus
6100	RP9	HP:0000648	Optic atrophy
6100	RP9	HP:0000618	Blindness
6100	RP9	HP:0000613	Photophobia
6100	RP9	HP:0000602	Ophthalmoplegia
6100	RP9	HP:0000662	Nyctalopia
6100	RP9	HP:0000842	Hyperinsulinemia
6100	RP9	HP:0040049	Macular edema
6100	RP9	HP:0000987	Atypical scarring of skin
6100	RP9	HP:0008046	Abnormal retinal vascular morphology
6100	RP9	HP:0007703	Abnormality of retinal pigmentation
6100	RP9	HP:0007737	Bone spicule pigmentation of the retina
6100	RP9	HP:0001513	Obesity
6100	RP9	HP:0000407	Sensorineural hearing impairment
6100	RP9	HP:0000405	Conductive hearing impairment
6100	RP9	HP:0000463	Anteverted nares
6100	RP9	HP:0000431	Wide nasal bridge
6100	RP9	HP:0000518	Cataract
6100	RP9	HP:0000510	Rod-cone dystrophy
6100	RP9	HP:0000512	Abnormal electroretinogram
6100	RP9	HP:0000505	Visual impairment
6100	RP9	HP:0000501	Glaucoma
6100	RP9	HP:0000563	Keratoconus
6101	RP1	HP:0001133	Constriction of peripheral visual field
6101	RP1	HP:0001249	Intellectual disability
6101	RP1	HP:0008736	Hypoplasia of penis
6101	RP1	HP:0001347	Hyperreflexia
6101	RP1	HP:0000035	Abnormal testis morphology
6101	RP1	HP:0000007	Autosomal recessive inheritance
6101	RP1	HP:0000006	Autosomal dominant inheritance
6101	RP1	HP:0000135	Hypogonadism
6101	RP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram
6101	RP1	HP:0007675	Progressive night blindness
6101	RP1	HP:0007663	Reduced visual acuity
6101	RP1	HP:0005978	Type II diabetes mellitus
6101	RP1	HP:0003621	Juvenile onset
6101	RP1	HP:0000639	Nystagmus
6101	RP1	HP:0000648	Optic atrophy
6101	RP1	HP:0000618	Blindness
6101	RP1	HP:0000613	Photophobia
6101	RP1	HP:0000602	Ophthalmoplegia
6101	RP1	HP:0000662	Nyctalopia
6101	RP1	HP:0011463	Childhood onset
6101	RP1	HP:0011462	Young adult onset
6101	RP1	HP:0000842	Hyperinsulinemia
6101	RP1	HP:0000987	Atypical scarring of skin
6101	RP1	HP:0008046	Abnormal retinal vascular morphology
6101	RP1	HP:0007703	Abnormality of retinal pigmentation
6101	RP1	HP:0007737	Bone spicule pigmentation of the retina
6101	RP1	HP:0001513	Obesity
6101	RP1	HP:0007843	Attenuation of retinal blood vessels
6101	RP1	HP:0000407	Sensorineural hearing impairment
6101	RP1	HP:0000405	Conductive hearing impairment
6101	RP1	HP:0000463	Anteverted nares
6101	RP1	HP:0000431	Wide nasal bridge
6101	RP1	HP:0000518	Cataract
6101	RP1	HP:0000510	Rod-cone dystrophy
6101	RP1	HP:0000512	Abnormal electroretinogram
6101	RP1	HP:0000505	Visual impairment
6101	RP1	HP:0000501	Glaucoma
6101	RP1	HP:0000575	Scotoma
6101	RP1	HP:0000563	Keratoconus
6101	RP1	HP:0000543	Optic disc pallor
6101	RP1	HP:0000545	Myopia
6102	RP2	HP:0001133	Constriction of peripheral visual field
6102	RP2	HP:0001249	Intellectual disability
6102	RP2	HP:0008736	Hypoplasia of penis
6102	RP2	HP:0001347	Hyperreflexia
6102	RP2	HP:0000035	Abnormal testis morphology
6102	RP2	HP:0000135	Hypogonadism
6102	RP2	HP:0007675	Progressive night blindness
6102	RP2	HP:0001417	X-linked inheritance
6102	RP2	HP:0005978	Type II diabetes mellitus
6102	RP2	HP:0001099	Fundus atrophy
6102	RP2	HP:0200065	Chorioretinal degeneration
6102	RP2	HP:0003621	Juvenile onset
6102	RP2	HP:0030529	Ring scotoma
6102	RP2	HP:0000639	Nystagmus
6102	RP2	HP:0000648	Optic atrophy
6102	RP2	HP:0000618	Blindness
6102	RP2	HP:0000613	Photophobia
6102	RP2	HP:0000602	Ophthalmoplegia
6102	RP2	HP:0000603	Central scotoma
6102	RP2	HP:0000662	Nyctalopia
6102	RP2	HP:0011463	Childhood onset
6102	RP2	HP:0011462	Young adult onset
6102	RP2	HP:0011504	Bull's eye maculopathy
6102	RP2	HP:0000842	Hyperinsulinemia
6102	RP2	HP:0000987	Atypical scarring of skin
6102	RP2	HP:0008046	Abnormal retinal vascular morphology
6102	RP2	HP:0007703	Abnormality of retinal pigmentation
6102	RP2	HP:0007761	Pericentral scotoma
6102	RP2	HP:0001513	Obesity
6102	RP2	HP:0011003	High myopia
6102	RP2	HP:0000407	Sensorineural hearing impairment
6102	RP2	HP:0000405	Conductive hearing impairment
6102	RP2	HP:0000463	Anteverted nares
6102	RP2	HP:0000431	Wide nasal bridge
6102	RP2	HP:0000518	Cataract
6102	RP2	HP:0000510	Rod-cone dystrophy
6102	RP2	HP:0000512	Abnormal electroretinogram
6102	RP2	HP:0000505	Visual impairment
6102	RP2	HP:0000501	Glaucoma
6102	RP2	HP:0000580	Pigmentary retinopathy
6102	RP2	HP:0000563	Keratoconus
6102	RP2	HP:0000545	Myopia
6103	RPGR	HP:0001133	Constriction of peripheral visual field
6103	RPGR	HP:0001103	Abnormal macular morphology
6103	RPGR	HP:0025177	Peribronchovascular interstitial thickening
6103	RPGR	HP:0001249	Intellectual disability
6103	RPGR	HP:0002566	Intestinal malrotation
6103	RPGR	HP:0008736	Hypoplasia of penis
6103	RPGR	HP:0001217	Clubbing
6103	RPGR	HP:0012043	Pendular nystagmus
6103	RPGR	HP:0001347	Hyperreflexia
6103	RPGR	HP:0000035	Abnormal testis morphology
6103	RPGR	HP:0002643	Neonatal respiratory distress
6103	RPGR	HP:0000135	Hypogonadism
6103	RPGR	HP:0007675	Progressive night blindness
6103	RPGR	HP:0007663	Reduced visual acuity
6103	RPGR	HP:0000119	Abnormality of the genitourinary system
6103	RPGR	HP:0032543	Lithoptysis
6103	RPGR	HP:0001419	X-linked recessive inheritance
6103	RPGR	HP:0001417	X-linked inheritance
6103	RPGR	HP:0031245	Productive cough
6103	RPGR	HP:0002011	Morphological central nervous system abnormality
6103	RPGR	HP:0005978	Type II diabetes mellitus
6103	RPGR	HP:0100582	Nasal polyposis
6103	RPGR	HP:0002119	Ventriculomegaly
6103	RPGR	HP:0002110	Bronchiectasis
6103	RPGR	HP:0008222	Female infertility
6103	RPGR	HP:0003596	Middle age onset
6103	RPGR	HP:0002257	Chronic rhinitis
6103	RPGR	HP:0100750	Atelectasis
6103	RPGR	HP:0032016	Abnormal sputum
6103	RPGR	HP:0011947	Respiratory tract infection
6103	RPGR	HP:0010772	Anomalous pulmonary venous return
6103	RPGR	HP:0030529	Ring scotoma
6103	RPGR	HP:0000639	Nystagmus
6103	RPGR	HP:0000648	Optic atrophy
6103	RPGR	HP:0000618	Blindness
6103	RPGR	HP:0000613	Photophobia
6103	RPGR	HP:0000608	Macular degeneration
6103	RPGR	HP:0000602	Ophthalmoplegia
6103	RPGR	HP:0000603	Central scotoma
6103	RPGR	HP:0030465	Undetectable light-adapted electroretinogram
6103	RPGR	HP:0000662	Nyctalopia
6103	RPGR	HP:0030620	Inner retinal layer loss on macular OCT
6103	RPGR	HP:0030632	Hypoautofluorescent macular lesion
6103	RPGR	HP:0030680	Abnormality of cardiovascular system morphology
6103	RPGR	HP:0000750	Delayed speech and language development
6103	RPGR	HP:0030584	Color vision test abnormality
6103	RPGR	HP:0011463	Childhood onset
6103	RPGR	HP:0011462	Young adult onset
6103	RPGR	HP:0034272	Perifoveal hypoautofluorescence
6103	RPGR	HP:0000924	Abnormality of the skeletal system
6103	RPGR	HP:0011539	Atrial situs ambiguous
6103	RPGR	HP:0011535	Abnormal atrial arrangement
6103	RPGR	HP:0000842	Hyperinsulinemia
6103	RPGR	HP:0030828	Wheezing
6103	RPGR	HP:0030825	Absent foveal reflex
6103	RPGR	HP:0003251	Male infertility
6103	RPGR	HP:0000987	Atypical scarring of skin
6103	RPGR	HP:0011617	Pulmonary situs ambiguus
6103	RPGR	HP:0008046	Abnormal retinal vascular morphology
6103	RPGR	HP:0007722	Retinal pigment epithelial atrophy
6103	RPGR	HP:0007703	Abnormality of retinal pigmentation
6103	RPGR	HP:0025576	Abnormal inferior vena cava morphology
6103	RPGR	HP:0025549	Eccentric visual fixation
6103	RPGR	HP:0005101	High-frequency hearing impairment
6103	RPGR	HP:0007750	Hypoplasia of the fovea
6103	RPGR	HP:0007737	Bone spicule pigmentation of the retina
6103	RPGR	HP:0007695	Abnormal pupillary light reflex
6103	RPGR	HP:0000238	Hydrocephalus
6103	RPGR	HP:0012206	Abnormal sperm motility
6103	RPGR	HP:0002878	Respiratory failure
6103	RPGR	HP:0002837	Recurrent bronchitis
6103	RPGR	HP:0001513	Obesity
6103	RPGR	HP:0007843	Attenuation of retinal blood vessels
6103	RPGR	HP:0007814	Retinal pigment epithelial mottling
6103	RPGR	HP:0007803	Monochromacy
6103	RPGR	HP:0000389	Chronic otitis media
6103	RPGR	HP:0000388	Otitis media
6103	RPGR	HP:0006536	Airway obstruction
6103	RPGR	HP:0001696	Situs inversus totalis
6103	RPGR	HP:0000365	Hearing impairment
6103	RPGR	HP:0011003	High myopia
6103	RPGR	HP:0001669	Transposition of the great arteries
6103	RPGR	HP:0031456	Ectopic pregnancy
6103	RPGR	HP:0001627	Abnormal heart morphology
6103	RPGR	HP:0005301	Persistent left superior vena cava
6103	RPGR	HP:0005376	Recurrent Haemophilus influenzae infections
6103	RPGR	HP:0000407	Sensorineural hearing impairment
6103	RPGR	HP:0000403	Recurrent otitis media
6103	RPGR	HP:0000405	Conductive hearing impairment
6103	RPGR	HP:0001719	Double outlet right ventricle
6103	RPGR	HP:0000463	Anteverted nares
6103	RPGR	HP:0011109	Chronic sinusitis
6103	RPGR	HP:0001746	Asplenia
6103	RPGR	HP:0001748	Polysplenia
6103	RPGR	HP:0001742	Nasal congestion
6103	RPGR	HP:0000431	Wide nasal bridge
6103	RPGR	HP:0005425	Recurrent sinopulmonary infections
6103	RPGR	HP:0011274	Recurrent mycobacterial infections
6103	RPGR	HP:0000518	Cataract
6103	RPGR	HP:0000510	Rod-cone dystrophy
6103	RPGR	HP:0000512	Abnormal electroretinogram
6103	RPGR	HP:0000505	Visual impairment
6103	RPGR	HP:0000501	Glaucoma
6103	RPGR	HP:0000563	Keratoconus
6103	RPGR	HP:0000540	Hypermetropia
6103	RPGR	HP:0000539	Abnormality of refraction
6103	RPGR	HP:0000551	Color vision defect
6103	RPGR	HP:0000545	Myopia
6117	RPA1	HP:0000006	Autosomal dominant inheritance
6117	RPA1	HP:0007588	Reticular hyperpigmentation
6117	RPA1	HP:0002745	Oral leukoplakia
6117	RPA1	HP:0002091	Restrictive ventilatory defect
6117	RPA1	HP:0003596	Middle age onset
6117	RPA1	HP:0003577	Congenital onset
6117	RPA1	HP:0002216	Premature graying of hair
6117	RPA1	HP:0002206	Pulmonary fibrosis
6117	RPA1	HP:0008404	Nail dystrophy
6117	RPA1	HP:0003621	Juvenile onset
6117	RPA1	HP:0005528	Bone marrow hypocellularity
6117	RPA1	HP:0004313	Decreased circulating antibody level
6117	RPA1	HP:0031413	Short telomere length
6117	RPA1	HP:0002863	Myelodysplasia
6117	RPA1	HP:0031545	Abnormally low T cell receptor excision circle level
6117	RPA1	HP:0001888	Lymphopenia
6117	RPA1	HP:0001876	Pancytopenia
6121	RPE65	HP:0001141	Severely reduced visual acuity
6121	RPE65	HP:0001103	Abnormal macular morphology
6121	RPE65	HP:0001116	Macular coloboma
6121	RPE65	HP:0001250	Seizure
6121	RPE65	HP:0001252	Hypotonia
6121	RPE65	HP:0001249	Intellectual disability
6121	RPE65	HP:0001263	Global developmental delay
6121	RPE65	HP:0008736	Hypoplasia of penis
6121	RPE65	HP:0001347	Hyperreflexia
6121	RPE65	HP:0000035	Abnormal testis morphology
6121	RPE65	HP:0000007	Autosomal recessive inheritance
6121	RPE65	HP:0000006	Autosomal dominant inheritance
6121	RPE65	HP:0001320	Cerebellar vermis hypoplasia
6121	RPE65	HP:0000135	Hypogonadism
6121	RPE65	HP:0001483	Eye poking
6121	RPE65	HP:0007688	Undetectable light- and dark-adapted electroretinogram
6121	RPE65	HP:0007675	Progressive night blindness
6121	RPE65	HP:0007663	Reduced visual acuity
6121	RPE65	HP:0005978	Type II diabetes mellitus
6121	RPE65	HP:0002084	Encephalocele
6121	RPE65	HP:0002172	Postural instability
6121	RPE65	HP:0003593	Infantile onset
6121	RPE65	HP:0002269	Abnormality of neuronal migration
6121	RPE65	HP:0002317	Unsteady gait
6121	RPE65	HP:0001099	Fundus atrophy
6121	RPE65	HP:0030505	Nummular pigmentation of the fundus
6121	RPE65	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
6121	RPE65	HP:0000639	Nystagmus
6121	RPE65	HP:0000648	Optic atrophy
6121	RPE65	HP:0000618	Blindness
6121	RPE65	HP:0000613	Photophobia
6121	RPE65	HP:0000622	Blurred vision
6121	RPE65	HP:0000602	Ophthalmoplegia
6121	RPE65	HP:0011342	Mild global developmental delay
6121	RPE65	HP:0000662	Nyctalopia
6121	RPE65	HP:0004374	Hemiplegia/hemiparesis
6121	RPE65	HP:0011488	Abnormal corneal endothelium morphology
6121	RPE65	HP:0011484	Posterior synechiae of the anterior chamber
6121	RPE65	HP:0012795	Abnormal optic disc morphology
6121	RPE65	HP:0011463	Childhood onset
6121	RPE65	HP:0000842	Hyperinsulinemia
6121	RPE65	HP:0030825	Absent foveal reflex
6121	RPE65	HP:0000987	Atypical scarring of skin
6121	RPE65	HP:0008046	Abnormal retinal vascular morphology
6121	RPE65	HP:0007722	Retinal pigment epithelial atrophy
6121	RPE65	HP:0007703	Abnormality of retinal pigmentation
6121	RPE65	HP:0007793	Granular macular appearance
6121	RPE65	HP:0007787	Posterior subcapsular cataract
6121	RPE65	HP:0007737	Bone spicule pigmentation of the retina
6121	RPE65	HP:0007695	Abnormal pupillary light reflex
6121	RPE65	HP:0012230	Rhegmatogenous retinal detachment
6121	RPE65	HP:0001513	Obesity
6121	RPE65	HP:0007843	Attenuation of retinal blood vessels
6121	RPE65	HP:0007814	Retinal pigment epithelial mottling
6121	RPE65	HP:0000365	Hearing impairment
6121	RPE65	HP:0007994	Peripheral visual field loss
6121	RPE65	HP:0000407	Sensorineural hearing impairment
6121	RPE65	HP:0000405	Conductive hearing impairment
6121	RPE65	HP:0000463	Anteverted nares
6121	RPE65	HP:0012434	Delayed social development
6121	RPE65	HP:0012426	Optic disc drusen
6121	RPE65	HP:0000431	Wide nasal bridge
6121	RPE65	HP:0000518	Cataract
6121	RPE65	HP:0000510	Rod-cone dystrophy
6121	RPE65	HP:0000512	Abnormal electroretinogram
6121	RPE65	HP:0000505	Visual impairment
6121	RPE65	HP:0000501	Glaucoma
6121	RPE65	HP:0000580	Pigmentary retinopathy
6121	RPE65	HP:0000577	Exotropia
6121	RPE65	HP:0000563	Keratoconus
6121	RPE65	HP:0000541	Retinal detachment
6121	RPE65	HP:0000533	Chorioretinal atrophy
6121	RPE65	HP:0000550	Undetectable electroretinogram
6121	RPE65	HP:0000551	Color vision defect
6121	RPE65	HP:0000546	Retinal degeneration
6121	RPE65	HP:0000543	Optic disc pallor
6121	RPE65	HP:0000545	Myopia
6123	RPL3L	HP:0000007	Autosomal recessive inheritance
6123	RPL3L	HP:0002092	Pulmonary arterial hypertension
6123	RPL3L	HP:0003593	Infantile onset
6123	RPL3L	HP:0003623	Neonatal onset
6123	RPL3L	HP:0012664	Reduced left ventricular ejection fraction
6123	RPL3L	HP:0030718	Right atrial enlargement
6123	RPL3L	HP:0011623	Muscular ventricular septal defect
6123	RPL3L	HP:0031329	Interstitial cardiac fibrosis
6123	RPL3L	HP:0033997	Perinuclear cardiomyocyte vacuolization
6123	RPL3L	HP:0001522	Death in infancy
6123	RPL3L	HP:0005180	Tricuspid regurgitation
6123	RPL3L	HP:0001644	Dilated cardiomyopathy
6123	RPL3L	HP:0030149	Cardiogenic shock
6123	RPL3L	HP:0001653	Mitral regurgitation
6123	RPL3L	HP:0001655	Patent foramen ovale
6125	RPL5	HP:0009944	Partial duplication of thumb phalanx
6125	RPL5	HP:0001199	Triphalangeal thumb
6125	RPL5	HP:0008551	Microtia
6125	RPL5	HP:0001254	Lethargy
6125	RPL5	HP:0001227	Abnormality of the thenar eminence
6125	RPL5	HP:0000085	Horseshoe kidney
6125	RPL5	HP:0000047	Hypospadias
6125	RPL5	HP:0002669	Osteosarcoma
6125	RPL5	HP:0000006	Autosomal dominant inheritance
6125	RPL5	HP:0000185	Cleft soft palate
6125	RPL5	HP:0000193	Bifid uvula
6125	RPL5	HP:0000175	Cleft palate
6125	RPL5	HP:0012133	Erythroid hypoplasia
6125	RPL5	HP:0410030	Cleft lip
6125	RPL5	HP:0002779	Tracheomalacia
6125	RPL5	HP:0000119	Abnormality of the genitourinary system
6125	RPL5	HP:0000104	Renal agenesis
6125	RPL5	HP:0040276	Adenocarcinoma of the colon
6125	RPL5	HP:0011904	Persistence of hemoglobin F
6125	RPL5	HP:0004808	Acute myeloid leukemia
6125	RPL5	HP:0001087	Developmental glaucoma
6125	RPL5	HP:0020118	Radial artery aplasia
6125	RPL5	HP:0009777	Absent thumb
6125	RPL5	HP:0009778	Short thumb
6125	RPL5	HP:0005532	Macrocytic dyserythropoietic anemia
6125	RPL5	HP:0005518	Increased mean corpuscular volume
6125	RPL5	HP:0001972	Macrocytic anemia
6125	RPL5	HP:0004322	Short stature
6125	RPL5	HP:0012758	Neurodevelopmental delay
6125	RPL5	HP:0000912	Sprengel anomaly
6125	RPL5	HP:0000980	Pallor
6125	RPL5	HP:0000286	Epicanthus
6125	RPL5	HP:0000278	Retrognathia
6125	RPL5	HP:0000294	Low anterior hairline
6125	RPL5	HP:0002817	Abnormality of the upper limb
6125	RPL5	HP:0000234	Abnormality of the head
6125	RPL5	HP:0000252	Microcephaly
6125	RPL5	HP:0000218	High palate
6125	RPL5	HP:0000204	Cleft upper lip
6125	RPL5	HP:0002863	Myelodysplasia
6125	RPL5	HP:0001508	Failure to thrive
6125	RPL5	HP:0001518	Small for gestational age
6125	RPL5	HP:0001510	Growth delay
6125	RPL5	HP:0000369	Low-set ears
6125	RPL5	HP:0001680	Coarctation of aorta
6125	RPL5	HP:0000347	Micrognathia
6125	RPL5	HP:0000316	Hypertelorism
6125	RPL5	HP:0001643	Patent ductus arteriosus
6125	RPL5	HP:0001653	Mitral regurgitation
6125	RPL5	HP:0001629	Ventricular septal defect
6125	RPL5	HP:0001627	Abnormal heart morphology
6125	RPL5	HP:0001636	Tetralogy of Fallot
6125	RPL5	HP:0001631	Atrial septal defect
6125	RPL5	HP:0001634	Mitral valve prolapse
6125	RPL5	HP:0001714	Ventricular hypertrophy
6125	RPL5	HP:0005280	Depressed nasal bridge
6125	RPL5	HP:0000486	Strabismus
6125	RPL5	HP:0001790	Nonimmune hydrops fetalis
6125	RPL5	HP:0000470	Short neck
6125	RPL5	HP:0000465	Webbed neck
6125	RPL5	HP:0030270	Elevated red cell adenosine deaminase level
6125	RPL5	HP:0012410	Pure red cell aplasia
6125	RPL5	HP:0000431	Wide nasal bridge
6125	RPL5	HP:0006758	Malignant genitourinary tract tumor
6125	RPL5	HP:0000519	Developmental cataract
6125	RPL5	HP:0000508	Ptosis
6125	RPL5	HP:0001894	Thrombocytosis
6125	RPL5	HP:0001896	Reticulocytopenia
6125	RPL5	HP:0001895	Normochromic anemia
6125	RPL5	HP:0001882	Leukopenia
6125	RPL5	HP:0001873	Thrombocytopenia
6125	RPL5	HP:0001875	Neutropenia
6134	RPL10	HP:0001182	Tapered finger
6134	RPL10	HP:0010864	Intellectual disability, severe
6134	RPL10	HP:0001290	Generalized hypotonia
6134	RPL10	HP:0001250	Seizure
6134	RPL10	HP:0001252	Hypotonia
6134	RPL10	HP:0001251	Ataxia
6134	RPL10	HP:0001249	Intellectual disability
6134	RPL10	HP:0001263	Global developmental delay
6134	RPL10	HP:0006101	Finger syndactyly
6134	RPL10	HP:0008734	Decreased testicular size
6134	RPL10	HP:0008689	Bilateral cryptorchidism
6134	RPL10	HP:0007359	Focal-onset seizure
6134	RPL10	HP:0002540	Inability to walk
6134	RPL10	HP:0012033	Sacral lipoma
6134	RPL10	HP:0012032	Lipoma
6134	RPL10	HP:0000047	Hypospadias
6134	RPL10	HP:0000023	Inguinal hernia
6134	RPL10	HP:0000028	Cryptorchidism
6134	RPL10	HP:0008872	Feeding difficulties in infancy
6134	RPL10	HP:0008850	Severe postnatal growth retardation
6134	RPL10	HP:0002655	Spondyloepiphyseal dysplasia
6134	RPL10	HP:0001344	Absent speech
6134	RPL10	HP:0001337	Tremor
6134	RPL10	HP:0002650	Scoliosis
6134	RPL10	HP:0001321	Cerebellar hypoplasia
6134	RPL10	HP:0001319	Neonatal hypotonia
6134	RPL10	HP:0000160	Narrow mouth
6134	RPL10	HP:0008947	Infantile muscular hypotonia
6134	RPL10	HP:0001419	X-linked recessive inheritance
6134	RPL10	HP:0002719	Recurrent infections
6134	RPL10	HP:0002020	Gastroesophageal reflux
6134	RPL10	HP:0004626	Lumbar scoliosis
6134	RPL10	HP:0002069	Bilateral tonic-clonic seizure
6134	RPL10	HP:0002066	Gait ataxia
6134	RPL10	HP:0011787	Central hypothyroidism
6134	RPL10	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger
6134	RPL10	HP:0003577	Congenital onset
6134	RPL10	HP:0100716	Self-injurious behavior
6134	RPL10	HP:0010621	Cutaneous syndactyly of toes
6134	RPL10	HP:0002359	Frequent falls
6134	RPL10	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6134	RPL10	HP:0001007	Hirsutism
6134	RPL10	HP:0010818	Generalized tonic seizure
6134	RPL10	HP:0009796	Branchial cyst
6134	RPL10	HP:0004209	Clinodactyly of the 5th finger
6134	RPL10	HP:0034042	Dorsal hirsutism
6134	RPL10	HP:0000678	Dental crowding
6134	RPL10	HP:0001999	Abnormal facial shape
6134	RPL10	HP:0004322	Short stature
6134	RPL10	HP:0031936	Delayed ability to walk
6134	RPL10	HP:0000750	Delayed speech and language development
6134	RPL10	HP:0000717	Autism
6134	RPL10	HP:0011461	Fetal onset
6134	RPL10	HP:0005750	Lower-limb joint contracture
6134	RPL10	HP:0004415	Pulmonary artery stenosis
6134	RPL10	HP:0005709	2-3 toe cutaneous syndactyly
6134	RPL10	HP:0012811	Wide nasal ridge
6134	RPL10	HP:0000823	Delayed puberty
6134	RPL10	HP:0040080	Anteverted ears
6134	RPL10	HP:0030891	Periventricular white matter hyperintensities
6134	RPL10	HP:0000954	Single transverse palmar crease
6134	RPL10	HP:0000960	Sacral dimple
6134	RPL10	HP:0000939	Osteoporosis
6134	RPL10	HP:0045025	Narrow palpebral fissure
6134	RPL10	HP:0009381	Short finger
6134	RPL10	HP:0000286	Epicanthus
6134	RPL10	HP:0000276	Long face
6134	RPL10	HP:0000268	Dolichocephaly
6134	RPL10	HP:0006466	Ankle flexion contracture
6134	RPL10	HP:0006380	Knee flexion contracture
6134	RPL10	HP:0000252	Microcephaly
6134	RPL10	HP:0000219	Thin upper lip vermilion
6134	RPL10	HP:0001561	Polyhydramnios
6134	RPL10	HP:0000232	Everted lower lip vermilion
6134	RPL10	HP:0001511	Intrauterine growth retardation
6134	RPL10	HP:0001510	Growth delay
6134	RPL10	HP:0012385	Camptodactyly
6134	RPL10	HP:0031535	Increased theta frequency activity in EEG
6134	RPL10	HP:0001601	Laryngomalacia
6134	RPL10	HP:0000365	Hearing impairment
6134	RPL10	HP:0011003	High myopia
6134	RPL10	HP:0000369	Low-set ears
6134	RPL10	HP:0000343	Long philtrum
6134	RPL10	HP:0000337	Broad forehead
6134	RPL10	HP:0000319	Smooth philtrum
6134	RPL10	HP:0001629	Ventricular septal defect
6134	RPL10	HP:0001622	Premature birth
6134	RPL10	HP:0000308	Microretrognathia
6134	RPL10	HP:0001631	Atrial septal defect
6134	RPL10	HP:0000303	Mandibular prognathia
6134	RPL10	HP:0006698	Dilatation of the ventricular cavity
6134	RPL10	HP:0000407	Sensorineural hearing impairment
6134	RPL10	HP:0000400	Macrotia
6134	RPL10	HP:0001770	Toe syndactyly
6134	RPL10	HP:0001769	Broad foot
6134	RPL10	HP:0000411	Protruding ear
6134	RPL10	HP:0000431	Wide nasal bridge
6134	RPL10	HP:0000510	Rod-cone dystrophy
6134	RPL10	HP:0011234	Absent antihelix
6134	RPL10	HP:0000577	Exotropia
6134	RPL10	HP:0000540	Hypermetropia
6134	RPL10	HP:0012520	Dilation of Virchow-Robin spaces
6134	RPL10	HP:0000545	Myopia
6135	RPL11	HP:0025116	Fetal distress
6135	RPL11	HP:0009944	Partial duplication of thumb phalanx
6135	RPL11	HP:0001199	Triphalangeal thumb
6135	RPL11	HP:0008551	Microtia
6135	RPL11	HP:0001254	Lethargy
6135	RPL11	HP:0001227	Abnormality of the thenar eminence
6135	RPL11	HP:0000085	Horseshoe kidney
6135	RPL11	HP:0000076	Vesicoureteral reflux
6135	RPL11	HP:0000047	Hypospadias
6135	RPL11	HP:0002669	Osteosarcoma
6135	RPL11	HP:0000006	Autosomal dominant inheritance
6135	RPL11	HP:0002650	Scoliosis
6135	RPL11	HP:0000185	Cleft soft palate
6135	RPL11	HP:0000175	Cleft palate
6135	RPL11	HP:0012133	Erythroid hypoplasia
6135	RPL11	HP:0410030	Cleft lip
6135	RPL11	HP:0000119	Abnormality of the genitourinary system
6135	RPL11	HP:0000104	Renal agenesis
6135	RPL11	HP:0002719	Recurrent infections
6135	RPL11	HP:0100512	Low levels of vitamin D
6135	RPL11	HP:0040276	Adenocarcinoma of the colon
6135	RPL11	HP:0010487	Small hypothenar eminence
6135	RPL11	HP:0011904	Persistence of hemoglobin F
6135	RPL11	HP:0004808	Acute myeloid leukemia
6135	RPL11	HP:0001087	Developmental glaucoma
6135	RPL11	HP:0100633	Esophagitis
6135	RPL11	HP:0020118	Radial artery aplasia
6135	RPL11	HP:0009777	Absent thumb
6135	RPL11	HP:0009778	Short thumb
6135	RPL11	HP:0005532	Macrocytic dyserythropoietic anemia
6135	RPL11	HP:0005518	Increased mean corpuscular volume
6135	RPL11	HP:0001972	Macrocytic anemia
6135	RPL11	HP:0004322	Short stature
6135	RPL11	HP:0012758	Neurodevelopmental delay
6135	RPL11	HP:0000912	Sprengel anomaly
6135	RPL11	HP:0000980	Pallor
6135	RPL11	HP:0000939	Osteoporosis
6135	RPL11	HP:0000938	Osteopenia
6135	RPL11	HP:0000286	Epicanthus
6135	RPL11	HP:0000294	Low anterior hairline
6135	RPL11	HP:0002817	Abnormality of the upper limb
6135	RPL11	HP:0000234	Abnormality of the head
6135	RPL11	HP:0000252	Microcephaly
6135	RPL11	HP:0000218	High palate
6135	RPL11	HP:0001561	Polyhydramnios
6135	RPL11	HP:0002863	Myelodysplasia
6135	RPL11	HP:0001518	Small for gestational age
6135	RPL11	HP:0001511	Intrauterine growth retardation
6135	RPL11	HP:0001510	Growth delay
6135	RPL11	HP:0000365	Hearing impairment
6135	RPL11	HP:0000369	Low-set ears
6135	RPL11	HP:0001684	Secundum atrial septal defect
6135	RPL11	HP:0001680	Coarctation of aorta
6135	RPL11	HP:0000347	Micrognathia
6135	RPL11	HP:0000316	Hypertelorism
6135	RPL11	HP:0001643	Patent ductus arteriosus
6135	RPL11	HP:0001629	Ventricular septal defect
6135	RPL11	HP:0001627	Abnormal heart morphology
6135	RPL11	HP:0001636	Tetralogy of Fallot
6135	RPL11	HP:0001631	Atrial septal defect
6135	RPL11	HP:0000403	Recurrent otitis media
6135	RPL11	HP:0005280	Depressed nasal bridge
6135	RPL11	HP:0000486	Strabismus
6135	RPL11	HP:0001790	Nonimmune hydrops fetalis
6135	RPL11	HP:0000470	Short neck
6135	RPL11	HP:0000465	Webbed neck
6135	RPL11	HP:0000453	Choanal atresia
6135	RPL11	HP:0030270	Elevated red cell adenosine deaminase level
6135	RPL11	HP:0012410	Pure red cell aplasia
6135	RPL11	HP:0000413	Atresia of the external auditory canal
6135	RPL11	HP:0000431	Wide nasal bridge
6135	RPL11	HP:0006758	Malignant genitourinary tract tumor
6135	RPL11	HP:0000519	Developmental cataract
6135	RPL11	HP:0000508	Ptosis
6135	RPL11	HP:0001894	Thrombocytosis
6135	RPL11	HP:0001896	Reticulocytopenia
6135	RPL11	HP:0001895	Normochromic anemia
6135	RPL11	HP:0001882	Leukopenia
6135	RPL11	HP:0001873	Thrombocytopenia
6135	RPL11	HP:0001875	Neutropenia
6137	RPL13	HP:0003850	Upper-limb metaphyseal irregularity
6137	RPL13	HP:0008897	Postnatal growth retardation
6137	RPL13	HP:0000006	Autosomal dominant inheritance
6137	RPL13	HP:0002650	Scoliosis
6137	RPL13	HP:0003510	Severe short stature
6137	RPL13	HP:0001903	Anemia
6137	RPL13	HP:0003051	Enlarged metaphyses
6137	RPL13	HP:0003026	Short long bone
6137	RPL13	HP:0000926	Platyspondyly
6137	RPL13	HP:0002812	Coxa vara
6137	RPL13	HP:0006361	Irregular femoral epiphysis
6137	RPL13	HP:0002970	Genu varum
6137	RPL13	HP:0030291	Lower-limb metaphyseal irregularity
6138	RPL15	HP:0009944	Partial duplication of thumb phalanx
6138	RPL15	HP:0001199	Triphalangeal thumb
6138	RPL15	HP:0008551	Microtia
6138	RPL15	HP:0001254	Lethargy
6138	RPL15	HP:0001227	Abnormality of the thenar eminence
6138	RPL15	HP:0000085	Horseshoe kidney
6138	RPL15	HP:0000047	Hypospadias
6138	RPL15	HP:0002669	Osteosarcoma
6138	RPL15	HP:0000006	Autosomal dominant inheritance
6138	RPL15	HP:0000185	Cleft soft palate
6138	RPL15	HP:0012133	Erythroid hypoplasia
6138	RPL15	HP:0410030	Cleft lip
6138	RPL15	HP:0000119	Abnormality of the genitourinary system
6138	RPL15	HP:0000104	Renal agenesis
6138	RPL15	HP:0040276	Adenocarcinoma of the colon
6138	RPL15	HP:0011904	Persistence of hemoglobin F
6138	RPL15	HP:0003577	Congenital onset
6138	RPL15	HP:0004808	Acute myeloid leukemia
6138	RPL15	HP:0001087	Developmental glaucoma
6138	RPL15	HP:0020118	Radial artery aplasia
6138	RPL15	HP:0009777	Absent thumb
6138	RPL15	HP:0009778	Short thumb
6138	RPL15	HP:0005532	Macrocytic dyserythropoietic anemia
6138	RPL15	HP:0005518	Increased mean corpuscular volume
6138	RPL15	HP:0001972	Macrocytic anemia
6138	RPL15	HP:0004322	Short stature
6138	RPL15	HP:0012758	Neurodevelopmental delay
6138	RPL15	HP:0000912	Sprengel anomaly
6138	RPL15	HP:0000980	Pallor
6138	RPL15	HP:0000286	Epicanthus
6138	RPL15	HP:0000294	Low anterior hairline
6138	RPL15	HP:0002817	Abnormality of the upper limb
6138	RPL15	HP:0000234	Abnormality of the head
6138	RPL15	HP:0000252	Microcephaly
6138	RPL15	HP:0000218	High palate
6138	RPL15	HP:0002863	Myelodysplasia
6138	RPL15	HP:0001518	Small for gestational age
6138	RPL15	HP:0001510	Growth delay
6138	RPL15	HP:0000369	Low-set ears
6138	RPL15	HP:0001680	Coarctation of aorta
6138	RPL15	HP:0000347	Micrognathia
6138	RPL15	HP:0000316	Hypertelorism
6138	RPL15	HP:0001629	Ventricular septal defect
6138	RPL15	HP:0001627	Abnormal heart morphology
6138	RPL15	HP:0001631	Atrial septal defect
6138	RPL15	HP:0005280	Depressed nasal bridge
6138	RPL15	HP:0000486	Strabismus
6138	RPL15	HP:0001790	Nonimmune hydrops fetalis
6138	RPL15	HP:0000470	Short neck
6138	RPL15	HP:0000465	Webbed neck
6138	RPL15	HP:0030270	Elevated red cell adenosine deaminase level
6138	RPL15	HP:0012410	Pure red cell aplasia
6138	RPL15	HP:0000431	Wide nasal bridge
6138	RPL15	HP:0006758	Malignant genitourinary tract tumor
6138	RPL15	HP:0000519	Developmental cataract
6138	RPL15	HP:0000508	Ptosis
6138	RPL15	HP:0001894	Thrombocytosis
6138	RPL15	HP:0001896	Reticulocytopenia
6138	RPL15	HP:0001895	Normochromic anemia
6138	RPL15	HP:0001882	Leukopenia
6138	RPL15	HP:0001873	Thrombocytopenia
6138	RPL15	HP:0001875	Neutropenia
6141	RPL18	HP:0009944	Partial duplication of thumb phalanx
6141	RPL18	HP:0001199	Triphalangeal thumb
6141	RPL18	HP:0008551	Microtia
6141	RPL18	HP:0001254	Lethargy
6141	RPL18	HP:0001227	Abnormality of the thenar eminence
6141	RPL18	HP:0000085	Horseshoe kidney
6141	RPL18	HP:0000047	Hypospadias
6141	RPL18	HP:0002669	Osteosarcoma
6141	RPL18	HP:0000006	Autosomal dominant inheritance
6141	RPL18	HP:0000185	Cleft soft palate
6141	RPL18	HP:0012139	Granulocytic hypoplasia
6141	RPL18	HP:0012133	Erythroid hypoplasia
6141	RPL18	HP:0410030	Cleft lip
6141	RPL18	HP:0000119	Abnormality of the genitourinary system
6141	RPL18	HP:0000104	Renal agenesis
6141	RPL18	HP:0040276	Adenocarcinoma of the colon
6141	RPL18	HP:0011904	Persistence of hemoglobin F
6141	RPL18	HP:0004808	Acute myeloid leukemia
6141	RPL18	HP:0001087	Developmental glaucoma
6141	RPL18	HP:0020118	Radial artery aplasia
6141	RPL18	HP:0009777	Absent thumb
6141	RPL18	HP:0009778	Short thumb
6141	RPL18	HP:0005532	Macrocytic dyserythropoietic anemia
6141	RPL18	HP:0005518	Increased mean corpuscular volume
6141	RPL18	HP:0004322	Short stature
6141	RPL18	HP:0012758	Neurodevelopmental delay
6141	RPL18	HP:0000912	Sprengel anomaly
6141	RPL18	HP:0033074	Steroid-responsive anemia
6141	RPL18	HP:0000980	Pallor
6141	RPL18	HP:0000286	Epicanthus
6141	RPL18	HP:0000294	Low anterior hairline
6141	RPL18	HP:0002817	Abnormality of the upper limb
6141	RPL18	HP:0000234	Abnormality of the head
6141	RPL18	HP:0000252	Microcephaly
6141	RPL18	HP:0000218	High palate
6141	RPL18	HP:0002863	Myelodysplasia
6141	RPL18	HP:0001518	Small for gestational age
6141	RPL18	HP:0001510	Growth delay
6141	RPL18	HP:0000369	Low-set ears
6141	RPL18	HP:0001680	Coarctation of aorta
6141	RPL18	HP:0000347	Micrognathia
6141	RPL18	HP:0000316	Hypertelorism
6141	RPL18	HP:0001629	Ventricular septal defect
6141	RPL18	HP:0001627	Abnormal heart morphology
6141	RPL18	HP:0001631	Atrial septal defect
6141	RPL18	HP:0005280	Depressed nasal bridge
6141	RPL18	HP:0000486	Strabismus
6141	RPL18	HP:0001790	Nonimmune hydrops fetalis
6141	RPL18	HP:0000470	Short neck
6141	RPL18	HP:0000465	Webbed neck
6141	RPL18	HP:0030270	Elevated red cell adenosine deaminase level
6141	RPL18	HP:0012410	Pure red cell aplasia
6141	RPL18	HP:0000431	Wide nasal bridge
6141	RPL18	HP:0006758	Malignant genitourinary tract tumor
6141	RPL18	HP:0000519	Developmental cataract
6141	RPL18	HP:0000508	Ptosis
6141	RPL18	HP:0001894	Thrombocytosis
6141	RPL18	HP:0001896	Reticulocytopenia
6141	RPL18	HP:0001895	Normochromic anemia
6141	RPL18	HP:0001882	Leukopenia
6141	RPL18	HP:0001873	Thrombocytopenia
6141	RPL18	HP:0001875	Neutropenia
6144	RPL21	HP:0100840	Aplasia/Hypoplasia of the eyebrow
6144	RPL21	HP:0000006	Autosomal dominant inheritance
6144	RPL21	HP:0000164	Abnormality of the dentition
6144	RPL21	HP:0200102	Sparse or absent eyelashes
6144	RPL21	HP:0002217	Slow-growing hair
6144	RPL21	HP:0002231	Sparse body hair
6144	RPL21	HP:0002209	Sparse scalp hair
6144	RPL21	HP:0011359	Dry hair
6144	RPL21	HP:0000653	Sparse eyelashes
6144	RPL21	HP:0045075	Sparse eyebrow
6144	RPL21	HP:0000971	Abnormal sweat gland morphology
6144	RPL21	HP:0000951	Abnormality of the skin
6144	RPL21	HP:0008070	Sparse hair
6144	RPL21	HP:0001597	Abnormality of the nail
6144	RPL21	HP:0001596	Alopecia
6154	RPL26	HP:0009944	Partial duplication of thumb phalanx
6154	RPL26	HP:0001199	Triphalangeal thumb
6154	RPL26	HP:0008551	Microtia
6154	RPL26	HP:0001254	Lethargy
6154	RPL26	HP:0001227	Abnormality of the thenar eminence
6154	RPL26	HP:0010972	Anemia of inadequate production
6154	RPL26	HP:0000085	Horseshoe kidney
6154	RPL26	HP:0000047	Hypospadias
6154	RPL26	HP:0002669	Osteosarcoma
6154	RPL26	HP:0000006	Autosomal dominant inheritance
6154	RPL26	HP:0000185	Cleft soft palate
6154	RPL26	HP:0000175	Cleft palate
6154	RPL26	HP:0012133	Erythroid hypoplasia
6154	RPL26	HP:0410030	Cleft lip
6154	RPL26	HP:0000119	Abnormality of the genitourinary system
6154	RPL26	HP:0000104	Renal agenesis
6154	RPL26	HP:0040276	Adenocarcinoma of the colon
6154	RPL26	HP:0011904	Persistence of hemoglobin F
6154	RPL26	HP:0004808	Acute myeloid leukemia
6154	RPL26	HP:0001087	Developmental glaucoma
6154	RPL26	HP:0020118	Radial artery aplasia
6154	RPL26	HP:0009777	Absent thumb
6154	RPL26	HP:0009778	Short thumb
6154	RPL26	HP:0005532	Macrocytic dyserythropoietic anemia
6154	RPL26	HP:0005528	Bone marrow hypocellularity
6154	RPL26	HP:0005518	Increased mean corpuscular volume
6154	RPL26	HP:0001903	Anemia
6154	RPL26	HP:0004322	Short stature
6154	RPL26	HP:0003022	Hypoplasia of the ulna
6154	RPL26	HP:0012758	Neurodevelopmental delay
6154	RPL26	HP:0000912	Sprengel anomaly
6154	RPL26	HP:0000980	Pallor
6154	RPL26	HP:0000286	Epicanthus
6154	RPL26	HP:0000294	Low anterior hairline
6154	RPL26	HP:0002817	Abnormality of the upper limb
6154	RPL26	HP:0006368	Forearm reduction defects
6154	RPL26	HP:0000234	Abnormality of the head
6154	RPL26	HP:0000252	Microcephaly
6154	RPL26	HP:0000218	High palate
6154	RPL26	HP:0002863	Myelodysplasia
6154	RPL26	HP:0001518	Small for gestational age
6154	RPL26	HP:0001510	Growth delay
6154	RPL26	HP:0000369	Low-set ears
6154	RPL26	HP:0001680	Coarctation of aorta
6154	RPL26	HP:0000347	Micrognathia
6154	RPL26	HP:0001647	Bicuspid aortic valve
6154	RPL26	HP:0000316	Hypertelorism
6154	RPL26	HP:0002974	Radioulnar synostosis
6154	RPL26	HP:0002984	Hypoplasia of the radius
6154	RPL26	HP:0001629	Ventricular septal defect
6154	RPL26	HP:0001627	Abnormal heart morphology
6154	RPL26	HP:0001631	Atrial septal defect
6154	RPL26	HP:0000402	Stenosis of the external auditory canal
6154	RPL26	HP:0005280	Depressed nasal bridge
6154	RPL26	HP:0000486	Strabismus
6154	RPL26	HP:0000492	Abnormal eyelid morphology
6154	RPL26	HP:0001790	Nonimmune hydrops fetalis
6154	RPL26	HP:0000470	Short neck
6154	RPL26	HP:0000465	Webbed neck
6154	RPL26	HP:0030270	Elevated red cell adenosine deaminase level
6154	RPL26	HP:0012410	Pure red cell aplasia
6154	RPL26	HP:0000413	Atresia of the external auditory canal
6154	RPL26	HP:0000431	Wide nasal bridge
6154	RPL26	HP:0011297	Abnormal digit morphology
6154	RPL26	HP:0006758	Malignant genitourinary tract tumor
6154	RPL26	HP:0000519	Developmental cataract
6154	RPL26	HP:0000508	Ptosis
6154	RPL26	HP:0001894	Thrombocytosis
6154	RPL26	HP:0001896	Reticulocytopenia
6154	RPL26	HP:0001895	Normochromic anemia
6154	RPL26	HP:0001882	Leukopenia
6154	RPL26	HP:0001873	Thrombocytopenia
6154	RPL26	HP:0001875	Neutropenia
6155	RPL27	HP:0009944	Partial duplication of thumb phalanx
6155	RPL27	HP:0001199	Triphalangeal thumb
6155	RPL27	HP:0008551	Microtia
6155	RPL27	HP:0001254	Lethargy
6155	RPL27	HP:0001227	Abnormality of the thenar eminence
6155	RPL27	HP:0000085	Horseshoe kidney
6155	RPL27	HP:0000047	Hypospadias
6155	RPL27	HP:0002669	Osteosarcoma
6155	RPL27	HP:0000006	Autosomal dominant inheritance
6155	RPL27	HP:0000185	Cleft soft palate
6155	RPL27	HP:0012133	Erythroid hypoplasia
6155	RPL27	HP:0410030	Cleft lip
6155	RPL27	HP:0000119	Abnormality of the genitourinary system
6155	RPL27	HP:0000104	Renal agenesis
6155	RPL27	HP:0040276	Adenocarcinoma of the colon
6155	RPL27	HP:0011904	Persistence of hemoglobin F
6155	RPL27	HP:0003577	Congenital onset
6155	RPL27	HP:0004808	Acute myeloid leukemia
6155	RPL27	HP:0001087	Developmental glaucoma
6155	RPL27	HP:0020118	Radial artery aplasia
6155	RPL27	HP:0009777	Absent thumb
6155	RPL27	HP:0009778	Short thumb
6155	RPL27	HP:0005532	Macrocytic dyserythropoietic anemia
6155	RPL27	HP:0005518	Increased mean corpuscular volume
6155	RPL27	HP:0001903	Anemia
6155	RPL27	HP:0004322	Short stature
6155	RPL27	HP:0012758	Neurodevelopmental delay
6155	RPL27	HP:0000912	Sprengel anomaly
6155	RPL27	HP:0000980	Pallor
6155	RPL27	HP:0000286	Epicanthus
6155	RPL27	HP:0000294	Low anterior hairline
6155	RPL27	HP:0002817	Abnormality of the upper limb
6155	RPL27	HP:0000234	Abnormality of the head
6155	RPL27	HP:0000252	Microcephaly
6155	RPL27	HP:0000218	High palate
6155	RPL27	HP:0002863	Myelodysplasia
6155	RPL27	HP:0001518	Small for gestational age
6155	RPL27	HP:0001510	Growth delay
6155	RPL27	HP:0000369	Low-set ears
6155	RPL27	HP:0001680	Coarctation of aorta
6155	RPL27	HP:0000347	Micrognathia
6155	RPL27	HP:0000316	Hypertelorism
6155	RPL27	HP:0001642	Pulmonic stenosis
6155	RPL27	HP:0001629	Ventricular septal defect
6155	RPL27	HP:0001627	Abnormal heart morphology
6155	RPL27	HP:0001631	Atrial septal defect
6155	RPL27	HP:0005280	Depressed nasal bridge
6155	RPL27	HP:0000486	Strabismus
6155	RPL27	HP:0001790	Nonimmune hydrops fetalis
6155	RPL27	HP:0000470	Short neck
6155	RPL27	HP:0000465	Webbed neck
6155	RPL27	HP:0030270	Elevated red cell adenosine deaminase level
6155	RPL27	HP:0012410	Pure red cell aplasia
6155	RPL27	HP:0000431	Wide nasal bridge
6155	RPL27	HP:0006758	Malignant genitourinary tract tumor
6155	RPL27	HP:0000519	Developmental cataract
6155	RPL27	HP:0000508	Ptosis
6155	RPL27	HP:0001894	Thrombocytosis
6155	RPL27	HP:0001896	Reticulocytopenia
6155	RPL27	HP:0001895	Normochromic anemia
6155	RPL27	HP:0001882	Leukopenia
6155	RPL27	HP:0001873	Thrombocytopenia
6155	RPL27	HP:0001875	Neutropenia
6160	RPL31	HP:0009944	Partial duplication of thumb phalanx
6160	RPL31	HP:0001199	Triphalangeal thumb
6160	RPL31	HP:0008551	Microtia
6160	RPL31	HP:0001254	Lethargy
6160	RPL31	HP:0001227	Abnormality of the thenar eminence
6160	RPL31	HP:0000085	Horseshoe kidney
6160	RPL31	HP:0000047	Hypospadias
6160	RPL31	HP:0002669	Osteosarcoma
6160	RPL31	HP:0000185	Cleft soft palate
6160	RPL31	HP:0012133	Erythroid hypoplasia
6160	RPL31	HP:0410030	Cleft lip
6160	RPL31	HP:0000119	Abnormality of the genitourinary system
6160	RPL31	HP:0000104	Renal agenesis
6160	RPL31	HP:0040276	Adenocarcinoma of the colon
6160	RPL31	HP:0011904	Persistence of hemoglobin F
6160	RPL31	HP:0004808	Acute myeloid leukemia
6160	RPL31	HP:0001087	Developmental glaucoma
6160	RPL31	HP:0020118	Radial artery aplasia
6160	RPL31	HP:0009777	Absent thumb
6160	RPL31	HP:0009778	Short thumb
6160	RPL31	HP:0005532	Macrocytic dyserythropoietic anemia
6160	RPL31	HP:0005518	Increased mean corpuscular volume
6160	RPL31	HP:0004322	Short stature
6160	RPL31	HP:0012758	Neurodevelopmental delay
6160	RPL31	HP:0000912	Sprengel anomaly
6160	RPL31	HP:0000980	Pallor
6160	RPL31	HP:0000286	Epicanthus
6160	RPL31	HP:0000294	Low anterior hairline
6160	RPL31	HP:0002817	Abnormality of the upper limb
6160	RPL31	HP:0000234	Abnormality of the head
6160	RPL31	HP:0000252	Microcephaly
6160	RPL31	HP:0000218	High palate
6160	RPL31	HP:0002863	Myelodysplasia
6160	RPL31	HP:0001518	Small for gestational age
6160	RPL31	HP:0001510	Growth delay
6160	RPL31	HP:0000369	Low-set ears
6160	RPL31	HP:0001680	Coarctation of aorta
6160	RPL31	HP:0000347	Micrognathia
6160	RPL31	HP:0000316	Hypertelorism
6160	RPL31	HP:0001629	Ventricular septal defect
6160	RPL31	HP:0001627	Abnormal heart morphology
6160	RPL31	HP:0001631	Atrial septal defect
6160	RPL31	HP:0005280	Depressed nasal bridge
6160	RPL31	HP:0000486	Strabismus
6160	RPL31	HP:0001790	Nonimmune hydrops fetalis
6160	RPL31	HP:0000470	Short neck
6160	RPL31	HP:0000465	Webbed neck
6160	RPL31	HP:0030270	Elevated red cell adenosine deaminase level
6160	RPL31	HP:0012410	Pure red cell aplasia
6160	RPL31	HP:0000431	Wide nasal bridge
6160	RPL31	HP:0006758	Malignant genitourinary tract tumor
6160	RPL31	HP:0000519	Developmental cataract
6160	RPL31	HP:0000508	Ptosis
6160	RPL31	HP:0001894	Thrombocytosis
6160	RPL31	HP:0001896	Reticulocytopenia
6160	RPL31	HP:0001895	Normochromic anemia
6160	RPL31	HP:0001882	Leukopenia
6160	RPL31	HP:0001873	Thrombocytopenia
6160	RPL31	HP:0001875	Neutropenia
6165	RPL35A	HP:0009944	Partial duplication of thumb phalanx
6165	RPL35A	HP:0001199	Triphalangeal thumb
6165	RPL35A	HP:0008551	Microtia
6165	RPL35A	HP:0001254	Lethargy
6165	RPL35A	HP:0001263	Global developmental delay
6165	RPL35A	HP:0001227	Abnormality of the thenar eminence
6165	RPL35A	HP:0000085	Horseshoe kidney
6165	RPL35A	HP:0000047	Hypospadias
6165	RPL35A	HP:0002669	Osteosarcoma
6165	RPL35A	HP:0000006	Autosomal dominant inheritance
6165	RPL35A	HP:0000185	Cleft soft palate
6165	RPL35A	HP:0012133	Erythroid hypoplasia
6165	RPL35A	HP:0410030	Cleft lip
6165	RPL35A	HP:0000119	Abnormality of the genitourinary system
6165	RPL35A	HP:0000104	Renal agenesis
6165	RPL35A	HP:0040276	Adenocarcinoma of the colon
6165	RPL35A	HP:0011904	Persistence of hemoglobin F
6165	RPL35A	HP:0003593	Infantile onset
6165	RPL35A	HP:0004808	Acute myeloid leukemia
6165	RPL35A	HP:0001087	Developmental glaucoma
6165	RPL35A	HP:0020118	Radial artery aplasia
6165	RPL35A	HP:0009777	Absent thumb
6165	RPL35A	HP:0009778	Short thumb
6165	RPL35A	HP:0005532	Macrocytic dyserythropoietic anemia
6165	RPL35A	HP:0005518	Increased mean corpuscular volume
6165	RPL35A	HP:0001972	Macrocytic anemia
6165	RPL35A	HP:0004322	Short stature
6165	RPL35A	HP:0012758	Neurodevelopmental delay
6165	RPL35A	HP:0000912	Sprengel anomaly
6165	RPL35A	HP:0000980	Pallor
6165	RPL35A	HP:0000286	Epicanthus
6165	RPL35A	HP:0000294	Low anterior hairline
6165	RPL35A	HP:0002817	Abnormality of the upper limb
6165	RPL35A	HP:0000234	Abnormality of the head
6165	RPL35A	HP:0000252	Microcephaly
6165	RPL35A	HP:0000218	High palate
6165	RPL35A	HP:0002863	Myelodysplasia
6165	RPL35A	HP:0001518	Small for gestational age
6165	RPL35A	HP:0001510	Growth delay
6165	RPL35A	HP:0000369	Low-set ears
6165	RPL35A	HP:0001680	Coarctation of aorta
6165	RPL35A	HP:0000347	Micrognathia
6165	RPL35A	HP:0000316	Hypertelorism
6165	RPL35A	HP:0001629	Ventricular septal defect
6165	RPL35A	HP:0001627	Abnormal heart morphology
6165	RPL35A	HP:0001631	Atrial septal defect
6165	RPL35A	HP:0005280	Depressed nasal bridge
6165	RPL35A	HP:0000486	Strabismus
6165	RPL35A	HP:0001790	Nonimmune hydrops fetalis
6165	RPL35A	HP:0000470	Short neck
6165	RPL35A	HP:0000465	Webbed neck
6165	RPL35A	HP:0030270	Elevated red cell adenosine deaminase level
6165	RPL35A	HP:0012410	Pure red cell aplasia
6165	RPL35A	HP:0000431	Wide nasal bridge
6165	RPL35A	HP:0006758	Malignant genitourinary tract tumor
6165	RPL35A	HP:0000519	Developmental cataract
6165	RPL35A	HP:0000508	Ptosis
6165	RPL35A	HP:0001894	Thrombocytosis
6165	RPL35A	HP:0001896	Reticulocytopenia
6165	RPL35A	HP:0001895	Normochromic anemia
6165	RPL35A	HP:0001882	Leukopenia
6165	RPL35A	HP:0001873	Thrombocytopenia
6165	RPL35A	HP:0001875	Neutropenia
6182	MRPL12	HP:0001250	Seizure
6182	MRPL12	HP:0001251	Ataxia
6182	MRPL12	HP:0001263	Global developmental delay
6182	MRPL12	HP:0002500	Abnormal cerebral white matter morphology
6182	MRPL12	HP:0001324	Muscle weakness
6182	MRPL12	HP:0001344	Absent speech
6182	MRPL12	HP:0000007	Autosomal recessive inheritance
6182	MRPL12	HP:0001337	Tremor
6182	MRPL12	HP:0008936	Axial hypotonia
6182	MRPL12	HP:0002151	Increased serum lactate
6182	MRPL12	HP:0011923	Decreased activity of mitochondrial complex I
6182	MRPL12	HP:0008347	Decreased activity of mitochondrial complex IV
6182	MRPL12	HP:0000666	Horizontal nystagmus
6182	MRPL12	HP:0000286	Epicanthus
6182	MRPL12	HP:0000218	High palate
6182	MRPL12	HP:0001508	Failure to thrive
6182	MRPL12	HP:0001695	Cardiac arrest
6182	MRPL12	HP:0000369	Low-set ears
6182	MRPL12	HP:0000311	Round face
6182	MRPL12	HP:0000470	Short neck
6197	RPS6KA3	HP:0001176	Large hands
6197	RPS6KA3	HP:0001169	Broad palm
6197	RPS6KA3	HP:0001187	Hyperextensibility of the finger joints
6197	RPS6KA3	HP:0001182	Tapered finger
6197	RPS6KA3	HP:0001156	Brachydactyly
6197	RPS6KA3	HP:0007302	Bipolar affective disorder
6197	RPS6KA3	HP:0009928	Thick nasal alae
6197	RPS6KA3	HP:0009882	Short distal phalanx of finger
6197	RPS6KA3	HP:0003745	Sporadic
6197	RPS6KA3	HP:0001276	Hypertonia
6197	RPS6KA3	HP:0001270	Motor delay
6197	RPS6KA3	HP:0001288	Gait disturbance
6197	RPS6KA3	HP:0001256	Intellectual disability, mild
6197	RPS6KA3	HP:0001250	Seizure
6197	RPS6KA3	HP:0001252	Hypotonia
6197	RPS6KA3	HP:0001249	Intellectual disability
6197	RPS6KA3	HP:0001263	Global developmental delay
6197	RPS6KA3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
6197	RPS6KA3	HP:0007360	Aplasia/Hypoplasia of the cerebellum
6197	RPS6KA3	HP:0002553	Highly arched eyebrow
6197	RPS6KA3	HP:0000023	Inguinal hernia
6197	RPS6KA3	HP:0002684	Thickened calvaria
6197	RPS6KA3	HP:0008872	Feeding difficulties in infancy
6197	RPS6KA3	HP:0006129	Drumstick terminal phalanges
6197	RPS6KA3	HP:0001324	Muscle weakness
6197	RPS6KA3	HP:0002673	Coxa valga
6197	RPS6KA3	HP:0002650	Scoliosis
6197	RPS6KA3	HP:0000189	Narrow palate
6197	RPS6KA3	HP:0000179	Thick lower lip vermilion
6197	RPS6KA3	HP:0000194	Open mouth
6197	RPS6KA3	HP:0001476	Delayed closure of the anterior fontanelle
6197	RPS6KA3	HP:0000139	Uterine prolapse
6197	RPS6KA3	HP:0000154	Wide mouth
6197	RPS6KA3	HP:0006288	Advanced eruption of teeth
6197	RPS6KA3	HP:0001423	X-linked dominant inheritance
6197	RPS6KA3	HP:0002751	Kyphoscoliosis
6197	RPS6KA3	HP:0002750	Delayed skeletal maturation
6197	RPS6KA3	HP:0001417	X-linked inheritance
6197	RPS6KA3	HP:0002035	Rectal prolapse
6197	RPS6KA3	HP:0002007	Frontal bossing
6197	RPS6KA3	HP:0003312	Abnormal form of the vertebral bodies
6197	RPS6KA3	HP:0002120	Cerebral cortical atrophy
6197	RPS6KA3	HP:0002119	Ventriculomegaly
6197	RPS6KA3	HP:0002191	Progressive spasticity
6197	RPS6KA3	HP:0002167	Abnormality of speech or vocalization
6197	RPS6KA3	HP:0010535	Sleep apnea
6197	RPS6KA3	HP:0003593	Infantile onset
6197	RPS6KA3	HP:0002269	Abnormality of neuronal migration
6197	RPS6KA3	HP:0100716	Self-injurious behavior
6197	RPS6KA3	HP:0002208	Coarse hair
6197	RPS6KA3	HP:0009746	Thick nasal septum
6197	RPS6KA3	HP:0001063	Acrocyanosis
6197	RPS6KA3	HP:0100613	Death in early adulthood
6197	RPS6KA3	HP:0010761	Broad columella
6197	RPS6KA3	HP:0008454	Lumbar kyphosis
6197	RPS6KA3	HP:0000648	Optic atrophy
6197	RPS6KA3	HP:0010049	Short metacarpal
6197	RPS6KA3	HP:0011344	Severe global developmental delay
6197	RPS6KA3	HP:0000684	Delayed eruption of teeth
6197	RPS6KA3	HP:0000678	Dental crowding
6197	RPS6KA3	HP:0000674	Anodontia
6197	RPS6KA3	HP:0000677	Oligodontia
6197	RPS6KA3	HP:0000689	Dental malocclusion
6197	RPS6KA3	HP:0000687	Widely spaced teeth
6197	RPS6KA3	HP:0000668	Hypodontia
6197	RPS6KA3	HP:0004325	Decreased body weight
6197	RPS6KA3	HP:0004322	Short stature
6197	RPS6KA3	HP:0030680	Abnormality of cardiovascular system morphology
6197	RPS6KA3	HP:0009193	Pseudoepiphyses of the metacarpals
6197	RPS6KA3	HP:0005692	Joint hyperflexibility
6197	RPS6KA3	HP:0000767	Pectus excavatum
6197	RPS6KA3	HP:0000768	Pectus carinatum
6197	RPS6KA3	HP:0000750	Delayed speech and language development
6197	RPS6KA3	HP:0000716	Depression
6197	RPS6KA3	HP:0000709	Psychosis
6197	RPS6KA3	HP:0003196	Short nose
6197	RPS6KA3	HP:0004493	Craniofacial hyperostosis
6197	RPS6KA3	HP:0003202	Skeletal muscle atrophy
6197	RPS6KA3	HP:0010309	Bifid sternum
6197	RPS6KA3	HP:0000973	Cutis laxa
6197	RPS6KA3	HP:0000954	Single transverse palmar crease
6197	RPS6KA3	HP:0000965	Cutis marmorata
6197	RPS6KA3	HP:0000940	Abnormal diaphysis morphology
6197	RPS6KA3	HP:0007703	Abnormality of retinal pigmentation
6197	RPS6KA3	HP:0000286	Epicanthus
6197	RPS6KA3	HP:0000280	Coarse facial features
6197	RPS6KA3	HP:0002808	Kyphosis
6197	RPS6KA3	HP:0000252	Microcephaly
6197	RPS6KA3	HP:0001582	Redundant skin
6197	RPS6KA3	HP:0000218	High palate
6197	RPS6KA3	HP:0000232	Everted lower lip vermilion
6197	RPS6KA3	HP:0002868	Narrow iliac wing
6197	RPS6KA3	HP:0001500	Broad finger
6197	RPS6KA3	HP:0001518	Small for gestational age
6197	RPS6KA3	HP:0001513	Obesity
6197	RPS6KA3	HP:0006482	Abnormality of dental morphology
6197	RPS6KA3	HP:0000365	Hearing impairment
6197	RPS6KA3	HP:0000336	Prominent supraorbital ridges
6197	RPS6KA3	HP:0000316	Hypertelorism
6197	RPS6KA3	HP:0001646	Abnormal aortic valve morphology
6197	RPS6KA3	HP:0000327	Hypoplasia of the maxilla
6197	RPS6KA3	HP:0001653	Mitral regurgitation
6197	RPS6KA3	HP:0000303	Mandibular prognathia
6197	RPS6KA3	HP:0001633	Abnormal mitral valve morphology
6197	RPS6KA3	HP:0000407	Sensorineural hearing impairment
6197	RPS6KA3	HP:0001702	Abnormal tricuspid valve morphology
6197	RPS6KA3	HP:0005280	Depressed nasal bridge
6197	RPS6KA3	HP:0000486	Strabismus
6197	RPS6KA3	HP:0000494	Downslanted palpebral fissures
6197	RPS6KA3	HP:0000463	Anteverted nares
6197	RPS6KA3	HP:0000455	Broad nasal tip
6197	RPS6KA3	HP:0001763	Pes planus
6197	RPS6KA3	HP:0000445	Wide nose
6197	RPS6KA3	HP:0000411	Protruding ear
6197	RPS6KA3	HP:0000518	Cataract
6197	RPS6KA3	HP:0000506	Telecanthus
6197	RPS6KA3	HP:0001833	Long foot
6197	RPS6KA3	HP:0001804	Hypoplastic fingernail
6197	RPS6KA3	HP:0001812	Hyperconvex fingernails
6197	RPS6KA3	HP:0011220	Prominent forehead
6197	RPS6KA3	HP:0000574	Thick eyebrow
6201	RPS7	HP:0009944	Partial duplication of thumb phalanx
6201	RPS7	HP:0001199	Triphalangeal thumb
6201	RPS7	HP:0008551	Microtia
6201	RPS7	HP:0001254	Lethargy
6201	RPS7	HP:0001227	Abnormality of the thenar eminence
6201	RPS7	HP:0000085	Horseshoe kidney
6201	RPS7	HP:0000047	Hypospadias
6201	RPS7	HP:0002669	Osteosarcoma
6201	RPS7	HP:0000006	Autosomal dominant inheritance
6201	RPS7	HP:0000185	Cleft soft palate
6201	RPS7	HP:0012133	Erythroid hypoplasia
6201	RPS7	HP:0410030	Cleft lip
6201	RPS7	HP:0000119	Abnormality of the genitourinary system
6201	RPS7	HP:0000104	Renal agenesis
6201	RPS7	HP:0040276	Adenocarcinoma of the colon
6201	RPS7	HP:0011904	Persistence of hemoglobin F
6201	RPS7	HP:0004808	Acute myeloid leukemia
6201	RPS7	HP:0001087	Developmental glaucoma
6201	RPS7	HP:0020118	Radial artery aplasia
6201	RPS7	HP:0009777	Absent thumb
6201	RPS7	HP:0009778	Short thumb
6201	RPS7	HP:0005532	Macrocytic dyserythropoietic anemia
6201	RPS7	HP:0005518	Increased mean corpuscular volume
6201	RPS7	HP:0001972	Macrocytic anemia
6201	RPS7	HP:0004322	Short stature
6201	RPS7	HP:0012758	Neurodevelopmental delay
6201	RPS7	HP:0003196	Short nose
6201	RPS7	HP:0000912	Sprengel anomaly
6201	RPS7	HP:0000980	Pallor
6201	RPS7	HP:0000286	Epicanthus
6201	RPS7	HP:0000294	Low anterior hairline
6201	RPS7	HP:0002817	Abnormality of the upper limb
6201	RPS7	HP:0000234	Abnormality of the head
6201	RPS7	HP:0000252	Microcephaly
6201	RPS7	HP:0000218	High palate
6201	RPS7	HP:0000215	Thick upper lip vermilion
6201	RPS7	HP:0002863	Myelodysplasia
6201	RPS7	HP:0001518	Small for gestational age
6201	RPS7	HP:0001510	Growth delay
6201	RPS7	HP:0000369	Low-set ears
6201	RPS7	HP:0001680	Coarctation of aorta
6201	RPS7	HP:0000347	Micrognathia
6201	RPS7	HP:0000316	Hypertelorism
6201	RPS7	HP:0001629	Ventricular septal defect
6201	RPS7	HP:0001627	Abnormal heart morphology
6201	RPS7	HP:0001631	Atrial septal defect
6201	RPS7	HP:0005280	Depressed nasal bridge
6201	RPS7	HP:0000486	Strabismus
6201	RPS7	HP:0001790	Nonimmune hydrops fetalis
6201	RPS7	HP:0000470	Short neck
6201	RPS7	HP:0000465	Webbed neck
6201	RPS7	HP:0030270	Elevated red cell adenosine deaminase level
6201	RPS7	HP:0012410	Pure red cell aplasia
6201	RPS7	HP:0000431	Wide nasal bridge
6201	RPS7	HP:0006758	Malignant genitourinary tract tumor
6201	RPS7	HP:0000519	Developmental cataract
6201	RPS7	HP:0000508	Ptosis
6201	RPS7	HP:0001894	Thrombocytosis
6201	RPS7	HP:0001896	Reticulocytopenia
6201	RPS7	HP:0001895	Normochromic anemia
6201	RPS7	HP:0001882	Leukopenia
6201	RPS7	HP:0001873	Thrombocytopenia
6201	RPS7	HP:0001875	Neutropenia
6204	RPS10	HP:0009944	Partial duplication of thumb phalanx
6204	RPS10	HP:0001199	Triphalangeal thumb
6204	RPS10	HP:0008551	Microtia
6204	RPS10	HP:0001254	Lethargy
6204	RPS10	HP:0001227	Abnormality of the thenar eminence
6204	RPS10	HP:0000085	Horseshoe kidney
6204	RPS10	HP:0000047	Hypospadias
6204	RPS10	HP:0002669	Osteosarcoma
6204	RPS10	HP:0000006	Autosomal dominant inheritance
6204	RPS10	HP:0000185	Cleft soft palate
6204	RPS10	HP:0012133	Erythroid hypoplasia
6204	RPS10	HP:0410030	Cleft lip
6204	RPS10	HP:0000119	Abnormality of the genitourinary system
6204	RPS10	HP:0000104	Renal agenesis
6204	RPS10	HP:0100512	Low levels of vitamin D
6204	RPS10	HP:0040276	Adenocarcinoma of the colon
6204	RPS10	HP:0011904	Persistence of hemoglobin F
6204	RPS10	HP:0003593	Infantile onset
6204	RPS10	HP:0003577	Congenital onset
6204	RPS10	HP:0004808	Acute myeloid leukemia
6204	RPS10	HP:0001087	Developmental glaucoma
6204	RPS10	HP:0020118	Radial artery aplasia
6204	RPS10	HP:0009777	Absent thumb
6204	RPS10	HP:0009778	Short thumb
6204	RPS10	HP:0003621	Juvenile onset
6204	RPS10	HP:0005532	Macrocytic dyserythropoietic anemia
6204	RPS10	HP:0005518	Increased mean corpuscular volume
6204	RPS10	HP:0001903	Anemia
6204	RPS10	HP:0004322	Short stature
6204	RPS10	HP:0012758	Neurodevelopmental delay
6204	RPS10	HP:0000912	Sprengel anomaly
6204	RPS10	HP:0000980	Pallor
6204	RPS10	HP:0000286	Epicanthus
6204	RPS10	HP:0000294	Low anterior hairline
6204	RPS10	HP:0002817	Abnormality of the upper limb
6204	RPS10	HP:0000234	Abnormality of the head
6204	RPS10	HP:0000252	Microcephaly
6204	RPS10	HP:0000218	High palate
6204	RPS10	HP:0002863	Myelodysplasia
6204	RPS10	HP:0001518	Small for gestational age
6204	RPS10	HP:0001510	Growth delay
6204	RPS10	HP:0000369	Low-set ears
6204	RPS10	HP:0001680	Coarctation of aorta
6204	RPS10	HP:0000347	Micrognathia
6204	RPS10	HP:0000316	Hypertelorism
6204	RPS10	HP:0001629	Ventricular septal defect
6204	RPS10	HP:0001627	Abnormal heart morphology
6204	RPS10	HP:0001631	Atrial septal defect
6204	RPS10	HP:0005280	Depressed nasal bridge
6204	RPS10	HP:0000486	Strabismus
6204	RPS10	HP:0001790	Nonimmune hydrops fetalis
6204	RPS10	HP:0000470	Short neck
6204	RPS10	HP:0000465	Webbed neck
6204	RPS10	HP:0030270	Elevated red cell adenosine deaminase level
6204	RPS10	HP:0012410	Pure red cell aplasia
6204	RPS10	HP:0000431	Wide nasal bridge
6204	RPS10	HP:0006758	Malignant genitourinary tract tumor
6204	RPS10	HP:0000519	Developmental cataract
6204	RPS10	HP:0000508	Ptosis
6204	RPS10	HP:0001894	Thrombocytosis
6204	RPS10	HP:0001896	Reticulocytopenia
6204	RPS10	HP:0001895	Normochromic anemia
6204	RPS10	HP:0001882	Leukopenia
6204	RPS10	HP:0001873	Thrombocytopenia
6204	RPS10	HP:0001875	Neutropenia
6208	RPS14	HP:0003745	Sporadic
6208	RPS14	HP:0031035	Chronic infection
6208	RPS14	HP:0010972	Anemia of inadequate production
6208	RPS14	HP:0031020	Bone marrow hypercellularity
6208	RPS14	HP:0012148	Multiple lineage myelodysplasia
6208	RPS14	HP:0012143	Abnormal megakaryocyte morphology
6208	RPS14	HP:0012129	Abnormality of bone marrow stromal cells
6208	RPS14	HP:0012133	Erythroid hypoplasia
6208	RPS14	HP:0025435	Increased circulating lactate dehydrogenase concentration
6208	RPS14	HP:0001466	Contiguous gene syndrome
6208	RPS14	HP:0001428	Somatic mutation
6208	RPS14	HP:0003584	Late onset
6208	RPS14	HP:0004861	Refractory macrocytic anemia
6208	RPS14	HP:0011992	Abnormality of neutrophil morphology
6208	RPS14	HP:0004808	Acute myeloid leukemia
6208	RPS14	HP:0005528	Bone marrow hypocellularity
6208	RPS14	HP:0001972	Macrocytic anemia
6208	RPS14	HP:0002863	Myelodysplasia
6208	RPS14	HP:0031385	Megakaryocyte nucleus hypolobulation
6208	RPS14	HP:0011273	Anisocytosis
6208	RPS14	HP:0001892	Abnormal bleeding
6208	RPS14	HP:0001894	Thrombocytosis
6208	RPS14	HP:0001882	Leukopenia
6208	RPS14	HP:0001877	Abnormal erythrocyte morphology
6210	RPS15A	HP:0009944	Partial duplication of thumb phalanx
6210	RPS15A	HP:0001199	Triphalangeal thumb
6210	RPS15A	HP:0008551	Microtia
6210	RPS15A	HP:0001254	Lethargy
6210	RPS15A	HP:0001227	Abnormality of the thenar eminence
6210	RPS15A	HP:0008807	Acetabular dysplasia
6210	RPS15A	HP:0000085	Horseshoe kidney
6210	RPS15A	HP:0000047	Hypospadias
6210	RPS15A	HP:0002669	Osteosarcoma
6210	RPS15A	HP:0000006	Autosomal dominant inheritance
6210	RPS15A	HP:0000185	Cleft soft palate
6210	RPS15A	HP:0012133	Erythroid hypoplasia
6210	RPS15A	HP:0410030	Cleft lip
6210	RPS15A	HP:0000119	Abnormality of the genitourinary system
6210	RPS15A	HP:0000104	Renal agenesis
6210	RPS15A	HP:0040276	Adenocarcinoma of the colon
6210	RPS15A	HP:0011904	Persistence of hemoglobin F
6210	RPS15A	HP:0004808	Acute myeloid leukemia
6210	RPS15A	HP:0001087	Developmental glaucoma
6210	RPS15A	HP:0020118	Radial artery aplasia
6210	RPS15A	HP:0009777	Absent thumb
6210	RPS15A	HP:0009778	Short thumb
6210	RPS15A	HP:0005532	Macrocytic dyserythropoietic anemia
6210	RPS15A	HP:0005518	Increased mean corpuscular volume
6210	RPS15A	HP:0001903	Anemia
6210	RPS15A	HP:0004322	Short stature
6210	RPS15A	HP:0012758	Neurodevelopmental delay
6210	RPS15A	HP:0000912	Sprengel anomaly
6210	RPS15A	HP:0000980	Pallor
6210	RPS15A	HP:0000286	Epicanthus
6210	RPS15A	HP:0000294	Low anterior hairline
6210	RPS15A	HP:0002817	Abnormality of the upper limb
6210	RPS15A	HP:0000234	Abnormality of the head
6210	RPS15A	HP:0000252	Microcephaly
6210	RPS15A	HP:0000218	High palate
6210	RPS15A	HP:0002863	Myelodysplasia
6210	RPS15A	HP:0001518	Small for gestational age
6210	RPS15A	HP:0001510	Growth delay
6210	RPS15A	HP:0005160	Total anomalous pulmonary venous return
6210	RPS15A	HP:0000369	Low-set ears
6210	RPS15A	HP:0001680	Coarctation of aorta
6210	RPS15A	HP:0000347	Micrognathia
6210	RPS15A	HP:0000316	Hypertelorism
6210	RPS15A	HP:0001629	Ventricular septal defect
6210	RPS15A	HP:0001627	Abnormal heart morphology
6210	RPS15A	HP:0001631	Atrial septal defect
6210	RPS15A	HP:0005280	Depressed nasal bridge
6210	RPS15A	HP:0000486	Strabismus
6210	RPS15A	HP:0001790	Nonimmune hydrops fetalis
6210	RPS15A	HP:0000470	Short neck
6210	RPS15A	HP:0000465	Webbed neck
6210	RPS15A	HP:0030270	Elevated red cell adenosine deaminase level
6210	RPS15A	HP:0012410	Pure red cell aplasia
6210	RPS15A	HP:0000431	Wide nasal bridge
6210	RPS15A	HP:0006758	Malignant genitourinary tract tumor
6210	RPS15A	HP:0000519	Developmental cataract
6210	RPS15A	HP:0000508	Ptosis
6210	RPS15A	HP:0001894	Thrombocytosis
6210	RPS15A	HP:0001896	Reticulocytopenia
6210	RPS15A	HP:0001895	Normochromic anemia
6210	RPS15A	HP:0001882	Leukopenia
6210	RPS15A	HP:0001873	Thrombocytopenia
6210	RPS15A	HP:0001875	Neutropenia
6218	RPS17	HP:0009944	Partial duplication of thumb phalanx
6218	RPS17	HP:0001199	Triphalangeal thumb
6218	RPS17	HP:0008551	Microtia
6218	RPS17	HP:0001254	Lethargy
6218	RPS17	HP:0001227	Abnormality of the thenar eminence
6218	RPS17	HP:0000085	Horseshoe kidney
6218	RPS17	HP:0000047	Hypospadias
6218	RPS17	HP:0002669	Osteosarcoma
6218	RPS17	HP:0000006	Autosomal dominant inheritance
6218	RPS17	HP:0000185	Cleft soft palate
6218	RPS17	HP:0012133	Erythroid hypoplasia
6218	RPS17	HP:0410030	Cleft lip
6218	RPS17	HP:0000119	Abnormality of the genitourinary system
6218	RPS17	HP:0000104	Renal agenesis
6218	RPS17	HP:0040276	Adenocarcinoma of the colon
6218	RPS17	HP:0011904	Persistence of hemoglobin F
6218	RPS17	HP:0004808	Acute myeloid leukemia
6218	RPS17	HP:0001087	Developmental glaucoma
6218	RPS17	HP:0020118	Radial artery aplasia
6218	RPS17	HP:0009777	Absent thumb
6218	RPS17	HP:0009778	Short thumb
6218	RPS17	HP:0005532	Macrocytic dyserythropoietic anemia
6218	RPS17	HP:0005518	Increased mean corpuscular volume
6218	RPS17	HP:0001972	Macrocytic anemia
6218	RPS17	HP:0001999	Abnormal facial shape
6218	RPS17	HP:0004322	Short stature
6218	RPS17	HP:0012758	Neurodevelopmental delay
6218	RPS17	HP:0000912	Sprengel anomaly
6218	RPS17	HP:0000980	Pallor
6218	RPS17	HP:0000286	Epicanthus
6218	RPS17	HP:0000294	Low anterior hairline
6218	RPS17	HP:0002817	Abnormality of the upper limb
6218	RPS17	HP:0000234	Abnormality of the head
6218	RPS17	HP:0000252	Microcephaly
6218	RPS17	HP:0000218	High palate
6218	RPS17	HP:0002863	Myelodysplasia
6218	RPS17	HP:0001518	Small for gestational age
6218	RPS17	HP:0001510	Growth delay
6218	RPS17	HP:0000369	Low-set ears
6218	RPS17	HP:0001680	Coarctation of aorta
6218	RPS17	HP:0000347	Micrognathia
6218	RPS17	HP:0000316	Hypertelorism
6218	RPS17	HP:0001629	Ventricular septal defect
6218	RPS17	HP:0001627	Abnormal heart morphology
6218	RPS17	HP:0001631	Atrial septal defect
6218	RPS17	HP:0005280	Depressed nasal bridge
6218	RPS17	HP:0000486	Strabismus
6218	RPS17	HP:0001790	Nonimmune hydrops fetalis
6218	RPS17	HP:0000470	Short neck
6218	RPS17	HP:0000465	Webbed neck
6218	RPS17	HP:0030270	Elevated red cell adenosine deaminase level
6218	RPS17	HP:0012410	Pure red cell aplasia
6218	RPS17	HP:0000431	Wide nasal bridge
6218	RPS17	HP:0006758	Malignant genitourinary tract tumor
6218	RPS17	HP:0000519	Developmental cataract
6218	RPS17	HP:0000508	Ptosis
6218	RPS17	HP:0001894	Thrombocytosis
6218	RPS17	HP:0001896	Reticulocytopenia
6218	RPS17	HP:0001895	Normochromic anemia
6218	RPS17	HP:0001882	Leukopenia
6218	RPS17	HP:0001873	Thrombocytopenia
6218	RPS17	HP:0001875	Neutropenia
6223	RPS19	HP:0009944	Partial duplication of thumb phalanx
6223	RPS19	HP:0001199	Triphalangeal thumb
6223	RPS19	HP:0008551	Microtia
6223	RPS19	HP:0001254	Lethargy
6223	RPS19	HP:0001249	Intellectual disability
6223	RPS19	HP:0001227	Abnormality of the thenar eminence
6223	RPS19	HP:0000089	Renal hypoplasia
6223	RPS19	HP:0000085	Horseshoe kidney
6223	RPS19	HP:0000047	Hypospadias
6223	RPS19	HP:0002697	Parietal foramina
6223	RPS19	HP:0002669	Osteosarcoma
6223	RPS19	HP:0000006	Autosomal dominant inheritance
6223	RPS19	HP:0000185	Cleft soft palate
6223	RPS19	HP:0000175	Cleft palate
6223	RPS19	HP:0012133	Erythroid hypoplasia
6223	RPS19	HP:0410030	Cleft lip
6223	RPS19	HP:0000119	Abnormality of the genitourinary system
6223	RPS19	HP:0000104	Renal agenesis
6223	RPS19	HP:0010446	Tricuspid stenosis
6223	RPS19	HP:0040276	Adenocarcinoma of the colon
6223	RPS19	HP:0011904	Persistence of hemoglobin F
6223	RPS19	HP:0003593	Infantile onset
6223	RPS19	HP:0004810	Congenital hypoplastic anemia
6223	RPS19	HP:0004808	Acute myeloid leukemia
6223	RPS19	HP:0001087	Developmental glaucoma
6223	RPS19	HP:0020118	Radial artery aplasia
6223	RPS19	HP:0008475	Hypoplastic sacral vertebrae
6223	RPS19	HP:0009777	Absent thumb
6223	RPS19	HP:0008447	Hypoplastic coccygeal vertebrae
6223	RPS19	HP:0009778	Short thumb
6223	RPS19	HP:0008437	Bifid thoracic vertebrae
6223	RPS19	HP:0005532	Macrocytic dyserythropoietic anemia
6223	RPS19	HP:0005518	Increased mean corpuscular volume
6223	RPS19	HP:0004322	Short stature
6223	RPS19	HP:0003003	Colon cancer
6223	RPS19	HP:0000774	Narrow chest
6223	RPS19	HP:0012758	Neurodevelopmental delay
6223	RPS19	HP:0000912	Sprengel anomaly
6223	RPS19	HP:0000878	11 pairs of ribs
6223	RPS19	HP:0008007	Primary congenital glaucoma
6223	RPS19	HP:0000980	Pallor
6223	RPS19	HP:0000946	Hypoplastic ilia
6223	RPS19	HP:0000286	Epicanthus
6223	RPS19	HP:0000278	Retrognathia
6223	RPS19	HP:0000294	Low anterior hairline
6223	RPS19	HP:0000270	Delayed cranial suture closure
6223	RPS19	HP:0002817	Abnormality of the upper limb
6223	RPS19	HP:0000234	Abnormality of the head
6223	RPS19	HP:0000252	Microcephaly
6223	RPS19	HP:0000218	High palate
6223	RPS19	HP:0000204	Cleft upper lip
6223	RPS19	HP:0002863	Myelodysplasia
6223	RPS19	HP:0001508	Failure to thrive
6223	RPS19	HP:0001518	Small for gestational age
6223	RPS19	HP:0001511	Intrauterine growth retardation
6223	RPS19	HP:0001510	Growth delay
6223	RPS19	HP:0000369	Low-set ears
6223	RPS19	HP:0001680	Coarctation of aorta
6223	RPS19	HP:0000347	Micrognathia
6223	RPS19	HP:0000316	Hypertelorism
6223	RPS19	HP:0002984	Hypoplasia of the radius
6223	RPS19	HP:0001629	Ventricular septal defect
6223	RPS19	HP:0001627	Abnormal heart morphology
6223	RPS19	HP:0001622	Premature birth
6223	RPS19	HP:0001635	Congestive heart failure
6223	RPS19	HP:0001631	Atrial septal defect
6223	RPS19	HP:0005280	Depressed nasal bridge
6223	RPS19	HP:0000486	Strabismus
6223	RPS19	HP:0000494	Downslanted palpebral fissures
6223	RPS19	HP:0001790	Nonimmune hydrops fetalis
6223	RPS19	HP:0000457	Depressed nasal ridge
6223	RPS19	HP:0000470	Short neck
6223	RPS19	HP:0000465	Webbed neck
6223	RPS19	HP:0030270	Elevated red cell adenosine deaminase level
6223	RPS19	HP:0012410	Pure red cell aplasia
6223	RPS19	HP:0000431	Wide nasal bridge
6223	RPS19	HP:0006758	Malignant genitourinary tract tumor
6223	RPS19	HP:0000519	Developmental cataract
6223	RPS19	HP:0000508	Ptosis
6223	RPS19	HP:0001894	Thrombocytosis
6223	RPS19	HP:0001896	Reticulocytopenia
6223	RPS19	HP:0001895	Normochromic anemia
6223	RPS19	HP:0001882	Leukopenia
6223	RPS19	HP:0001873	Thrombocytopenia
6223	RPS19	HP:0001875	Neutropenia
6224	RPS20	HP:0001123	Visual field defect
6224	RPS20	HP:0009944	Partial duplication of thumb phalanx
6224	RPS20	HP:0001199	Triphalangeal thumb
6224	RPS20	HP:0007256	Abnormal pyramidal sign
6224	RPS20	HP:0008551	Microtia
6224	RPS20	HP:0001276	Hypertonia
6224	RPS20	HP:0001288	Gait disturbance
6224	RPS20	HP:0100835	Benign neoplasm of the central nervous system
6224	RPS20	HP:0001254	Lethargy
6224	RPS20	HP:0001250	Seizure
6224	RPS20	HP:0001252	Hypotonia
6224	RPS20	HP:0001260	Dysarthria
6224	RPS20	HP:0001227	Abnormality of the thenar eminence
6224	RPS20	HP:0002516	Increased intracranial pressure
6224	RPS20	HP:0000085	Horseshoe kidney
6224	RPS20	HP:0001371	Flexion contracture
6224	RPS20	HP:0000047	Hypospadias
6224	RPS20	HP:0002671	Basal cell carcinoma
6224	RPS20	HP:0002669	Osteosarcoma
6224	RPS20	HP:0000185	Cleft soft palate
6224	RPS20	HP:0012174	Glioblastoma multiforme
6224	RPS20	HP:0012126	Stomach cancer
6224	RPS20	HP:0012133	Erythroid hypoplasia
6224	RPS20	HP:0410030	Cleft lip
6224	RPS20	HP:0012113	Abnormal circulating creatine concentration
6224	RPS20	HP:0000119	Abnormality of the genitourinary system
6224	RPS20	HP:0000104	Renal agenesis
6224	RPS20	HP:0001402	Hepatocellular carcinoma
6224	RPS20	HP:0002024	Malabsorption
6224	RPS20	HP:0002019	Constipation
6224	RPS20	HP:0002017	Nausea and vomiting
6224	RPS20	HP:0002027	Abdominal pain
6224	RPS20	HP:0002076	Migraine
6224	RPS20	HP:0100571	Cardiac diverticulum
6224	RPS20	HP:0100576	Amaurosis fugax
6224	RPS20	HP:0040276	Adenocarcinoma of the colon
6224	RPS20	HP:0011904	Persistence of hemoglobin F
6224	RPS20	HP:0002167	Abnormality of speech or vocalization
6224	RPS20	HP:0010526	Dysgraphia
6224	RPS20	HP:0010524	Agnosia
6224	RPS20	HP:0003401	Paresthesia
6224	RPS20	HP:0002239	Gastrointestinal hemorrhage
6224	RPS20	HP:0009726	Renal neoplasm
6224	RPS20	HP:0100743	Neoplasm of the rectum
6224	RPS20	HP:0007018	Attention deficit hyperactivity disorder
6224	RPS20	HP:0010622	Neoplasm of the skeletal system
6224	RPS20	HP:0004808	Acute myeloid leukemia
6224	RPS20	HP:0002376	Developmental regression
6224	RPS20	HP:0002354	Memory impairment
6224	RPS20	HP:0100660	Dyskinesia
6224	RPS20	HP:0100615	Ovarian neoplasm
6224	RPS20	HP:0001087	Developmental glaucoma
6224	RPS20	HP:0020118	Radial artery aplasia
6224	RPS20	HP:0010786	Urinary tract neoplasm
6224	RPS20	HP:0010784	Uterine neoplasm
6224	RPS20	HP:0009777	Absent thumb
6224	RPS20	HP:0009778	Short thumb
6224	RPS20	HP:0005532	Macrocytic dyserythropoietic anemia
6224	RPS20	HP:0005518	Increased mean corpuscular volume
6224	RPS20	HP:0004322	Short stature
6224	RPS20	HP:0004374	Hemiplegia/hemiparesis
6224	RPS20	HP:0003006	Neuroblastoma
6224	RPS20	HP:0100013	Neoplasm of the breast
6224	RPS20	HP:0100031	Neoplasm of the thyroid gland
6224	RPS20	HP:0000738	Hallucinations
6224	RPS20	HP:0000737	Irritability
6224	RPS20	HP:0000739	Anxiety
6224	RPS20	HP:0000716	Depression
6224	RPS20	HP:0000708	Atypical behavior
6224	RPS20	HP:0012758	Neurodevelopmental delay
6224	RPS20	HP:0000912	Sprengel anomaly
6224	RPS20	HP:0000980	Pallor
6224	RPS20	HP:0100273	Neoplasm of the colon
6224	RPS20	HP:0000286	Epicanthus
6224	RPS20	HP:0000294	Low anterior hairline
6224	RPS20	HP:0002817	Abnormality of the upper limb
6224	RPS20	HP:0000234	Abnormality of the head
6224	RPS20	HP:0000252	Microcephaly
6224	RPS20	HP:0000218	High palate
6224	RPS20	HP:0002894	Neoplasm of the pancreas
6224	RPS20	HP:0002893	Pituitary adenoma
6224	RPS20	HP:0002863	Myelodysplasia
6224	RPS20	HP:0001518	Small for gestational age
6224	RPS20	HP:0001510	Growth delay
6224	RPS20	HP:0012378	Fatigue
6224	RPS20	HP:0000369	Low-set ears
6224	RPS20	HP:0001680	Coarctation of aorta
6224	RPS20	HP:0000347	Micrognathia
6224	RPS20	HP:0000316	Hypertelorism
6224	RPS20	HP:0001629	Ventricular septal defect
6224	RPS20	HP:0001627	Abnormal heart morphology
6224	RPS20	HP:0001631	Atrial septal defect
6224	RPS20	HP:0005280	Depressed nasal bridge
6224	RPS20	HP:0000486	Strabismus
6224	RPS20	HP:0001790	Nonimmune hydrops fetalis
6224	RPS20	HP:0000470	Short neck
6224	RPS20	HP:0000465	Webbed neck
6224	RPS20	HP:0030270	Elevated red cell adenosine deaminase level
6224	RPS20	HP:0012410	Pure red cell aplasia
6224	RPS20	HP:0000431	Wide nasal bridge
6224	RPS20	HP:0006725	Pancreatic adenocarcinoma
6224	RPS20	HP:0006758	Malignant genitourinary tract tumor
6224	RPS20	HP:0000519	Developmental cataract
6224	RPS20	HP:0001824	Weight loss
6224	RPS20	HP:0000508	Ptosis
6224	RPS20	HP:0000505	Visual impairment
6224	RPS20	HP:0001894	Thrombocytosis
6224	RPS20	HP:0001896	Reticulocytopenia
6224	RPS20	HP:0001895	Normochromic anemia
6224	RPS20	HP:0001882	Leukopenia
6224	RPS20	HP:0001873	Thrombocytopenia
6224	RPS20	HP:0001875	Neutropenia
6228	RPS23	HP:0001290	Generalized hypotonia
6228	RPS23	HP:0001270	Motor delay
6228	RPS23	HP:0001212	Prominent fingertip pads
6228	RPS23	HP:0002553	Highly arched eyebrow
6228	RPS23	HP:0001328	Specific learning disability
6228	RPS23	HP:0000006	Autosomal dominant inheritance
6228	RPS23	HP:0000179	Thick lower lip vermilion
6228	RPS23	HP:0000194	Open mouth
6228	RPS23	HP:0000193	Bifid uvula
6228	RPS23	HP:0000176	Submucous cleft hard palate
6228	RPS23	HP:0002299	Brittle hair
6228	RPS23	HP:0000629	Periorbital fullness
6228	RPS23	HP:0000664	Synophrys
6228	RPS23	HP:0004322	Short stature
6228	RPS23	HP:0000729	Autistic behavior
6228	RPS23	HP:0000954	Single transverse palmar crease
6228	RPS23	HP:0000286	Epicanthus
6228	RPS23	HP:0000252	Microcephaly
6228	RPS23	HP:0000218	High palate
6228	RPS23	HP:0000233	Thin vermilion border
6228	RPS23	HP:0011069	Supernumerary tooth
6228	RPS23	HP:0000396	Overfolded helix
6228	RPS23	HP:0000369	Low-set ears
6228	RPS23	HP:0000405	Conductive hearing impairment
6228	RPS23	HP:0005280	Depressed nasal bridge
6228	RPS23	HP:0005469	Flat occiput
6228	RPS23	HP:0000527	Long eyelashes
6228	RPS23	HP:0000592	Blue sclerae
6228	RPS23	HP:0000574	Thick eyebrow
6229	RPS24	HP:0009944	Partial duplication of thumb phalanx
6229	RPS24	HP:0001199	Triphalangeal thumb
6229	RPS24	HP:0008551	Microtia
6229	RPS24	HP:0001254	Lethargy
6229	RPS24	HP:0001227	Abnormality of the thenar eminence
6229	RPS24	HP:0000085	Horseshoe kidney
6229	RPS24	HP:0000047	Hypospadias
6229	RPS24	HP:0002669	Osteosarcoma
6229	RPS24	HP:0000006	Autosomal dominant inheritance
6229	RPS24	HP:0000185	Cleft soft palate
6229	RPS24	HP:0012133	Erythroid hypoplasia
6229	RPS24	HP:0410030	Cleft lip
6229	RPS24	HP:0000119	Abnormality of the genitourinary system
6229	RPS24	HP:0000104	Renal agenesis
6229	RPS24	HP:0040276	Adenocarcinoma of the colon
6229	RPS24	HP:0011904	Persistence of hemoglobin F
6229	RPS24	HP:0004808	Acute myeloid leukemia
6229	RPS24	HP:0001087	Developmental glaucoma
6229	RPS24	HP:0020118	Radial artery aplasia
6229	RPS24	HP:0009777	Absent thumb
6229	RPS24	HP:0009778	Short thumb
6229	RPS24	HP:0005532	Macrocytic dyserythropoietic anemia
6229	RPS24	HP:0005518	Increased mean corpuscular volume
6229	RPS24	HP:0001972	Macrocytic anemia
6229	RPS24	HP:0004322	Short stature
6229	RPS24	HP:0012758	Neurodevelopmental delay
6229	RPS24	HP:0000912	Sprengel anomaly
6229	RPS24	HP:0000980	Pallor
6229	RPS24	HP:0000286	Epicanthus
6229	RPS24	HP:0000294	Low anterior hairline
6229	RPS24	HP:0002817	Abnormality of the upper limb
6229	RPS24	HP:0000234	Abnormality of the head
6229	RPS24	HP:0000252	Microcephaly
6229	RPS24	HP:0000218	High palate
6229	RPS24	HP:0002863	Myelodysplasia
6229	RPS24	HP:0001518	Small for gestational age
6229	RPS24	HP:0001510	Growth delay
6229	RPS24	HP:0000369	Low-set ears
6229	RPS24	HP:0001680	Coarctation of aorta
6229	RPS24	HP:0000347	Micrognathia
6229	RPS24	HP:0000316	Hypertelorism
6229	RPS24	HP:0001629	Ventricular septal defect
6229	RPS24	HP:0001627	Abnormal heart morphology
6229	RPS24	HP:0001631	Atrial septal defect
6229	RPS24	HP:0005280	Depressed nasal bridge
6229	RPS24	HP:0000486	Strabismus
6229	RPS24	HP:0001790	Nonimmune hydrops fetalis
6229	RPS24	HP:0000470	Short neck
6229	RPS24	HP:0000465	Webbed neck
6229	RPS24	HP:0030270	Elevated red cell adenosine deaminase level
6229	RPS24	HP:0012410	Pure red cell aplasia
6229	RPS24	HP:0000431	Wide nasal bridge
6229	RPS24	HP:0006758	Malignant genitourinary tract tumor
6229	RPS24	HP:0000519	Developmental cataract
6229	RPS24	HP:0000508	Ptosis
6229	RPS24	HP:0001894	Thrombocytosis
6229	RPS24	HP:0001896	Reticulocytopenia
6229	RPS24	HP:0001895	Normochromic anemia
6229	RPS24	HP:0001882	Leukopenia
6229	RPS24	HP:0001873	Thrombocytopenia
6229	RPS24	HP:0001875	Neutropenia
6231	RPS26	HP:0025194	Morgagni diaphragmatic hernia
6231	RPS26	HP:0009944	Partial duplication of thumb phalanx
6231	RPS26	HP:0001199	Triphalangeal thumb
6231	RPS26	HP:0008551	Microtia
6231	RPS26	HP:0001254	Lethargy
6231	RPS26	HP:0001227	Abnormality of the thenar eminence
6231	RPS26	HP:0000086	Ectopic kidney
6231	RPS26	HP:0000085	Horseshoe kidney
6231	RPS26	HP:0000075	Renal duplication
6231	RPS26	HP:0000047	Hypospadias
6231	RPS26	HP:0002669	Osteosarcoma
6231	RPS26	HP:0000006	Autosomal dominant inheritance
6231	RPS26	HP:0000185	Cleft soft palate
6231	RPS26	HP:0000175	Cleft palate
6231	RPS26	HP:0012133	Erythroid hypoplasia
6231	RPS26	HP:0410030	Cleft lip
6231	RPS26	HP:0000119	Abnormality of the genitourinary system
6231	RPS26	HP:0000104	Renal agenesis
6231	RPS26	HP:0002098	Respiratory distress
6231	RPS26	HP:0040276	Adenocarcinoma of the colon
6231	RPS26	HP:0011904	Persistence of hemoglobin F
6231	RPS26	HP:0003593	Infantile onset
6231	RPS26	HP:0003577	Congenital onset
6231	RPS26	HP:0004808	Acute myeloid leukemia
6231	RPS26	HP:0001087	Developmental glaucoma
6231	RPS26	HP:0020118	Radial artery aplasia
6231	RPS26	HP:0009777	Absent thumb
6231	RPS26	HP:0009778	Short thumb
6231	RPS26	HP:0005532	Macrocytic dyserythropoietic anemia
6231	RPS26	HP:0005518	Increased mean corpuscular volume
6231	RPS26	HP:0001972	Macrocytic anemia
6231	RPS26	HP:0001903	Anemia
6231	RPS26	HP:0004322	Short stature
6231	RPS26	HP:0011463	Childhood onset
6231	RPS26	HP:0000776	Congenital diaphragmatic hernia
6231	RPS26	HP:0012758	Neurodevelopmental delay
6231	RPS26	HP:0000912	Sprengel anomaly
6231	RPS26	HP:0033074	Steroid-responsive anemia
6231	RPS26	HP:0000980	Pallor
6231	RPS26	HP:0005815	Supernumerary ribs
6231	RPS26	HP:0000286	Epicanthus
6231	RPS26	HP:0000294	Low anterior hairline
6231	RPS26	HP:0000272	Malar flattening
6231	RPS26	HP:0002817	Abnormality of the upper limb
6231	RPS26	HP:0000234	Abnormality of the head
6231	RPS26	HP:0000252	Microcephaly
6231	RPS26	HP:0000218	High palate
6231	RPS26	HP:0002863	Myelodysplasia
6231	RPS26	HP:0001518	Small for gestational age
6231	RPS26	HP:0001510	Growth delay
6231	RPS26	HP:0000365	Hearing impairment
6231	RPS26	HP:0000358	Posteriorly rotated ears
6231	RPS26	HP:0000369	Low-set ears
6231	RPS26	HP:0001680	Coarctation of aorta
6231	RPS26	HP:0000347	Micrognathia
6231	RPS26	HP:0000316	Hypertelorism
6231	RPS26	HP:0001643	Patent ductus arteriosus
6231	RPS26	HP:0001629	Ventricular septal defect
6231	RPS26	HP:0001627	Abnormal heart morphology
6231	RPS26	HP:0001631	Atrial septal defect
6231	RPS26	HP:0005321	Mandibulofacial dysostosis
6231	RPS26	HP:0000405	Conductive hearing impairment
6231	RPS26	HP:0005280	Depressed nasal bridge
6231	RPS26	HP:0000486	Strabismus
6231	RPS26	HP:0001790	Nonimmune hydrops fetalis
6231	RPS26	HP:0000475	Broad neck
6231	RPS26	HP:0000470	Short neck
6231	RPS26	HP:0000465	Webbed neck
6231	RPS26	HP:0000453	Choanal atresia
6231	RPS26	HP:0030270	Elevated red cell adenosine deaminase level
6231	RPS26	HP:0012410	Pure red cell aplasia
6231	RPS26	HP:0000413	Atresia of the external auditory canal
6231	RPS26	HP:0000431	Wide nasal bridge
6231	RPS26	HP:0006758	Malignant genitourinary tract tumor
6231	RPS26	HP:0000519	Developmental cataract
6231	RPS26	HP:0000508	Ptosis
6231	RPS26	HP:0001894	Thrombocytosis
6231	RPS26	HP:0001896	Reticulocytopenia
6231	RPS26	HP:0001895	Normochromic anemia
6231	RPS26	HP:0001882	Leukopenia
6231	RPS26	HP:0001873	Thrombocytopenia
6231	RPS26	HP:0001875	Neutropenia
6232	RPS27	HP:0009944	Partial duplication of thumb phalanx
6232	RPS27	HP:0001199	Triphalangeal thumb
6232	RPS27	HP:0008551	Microtia
6232	RPS27	HP:0001254	Lethargy
6232	RPS27	HP:0001227	Abnormality of the thenar eminence
6232	RPS27	HP:0000085	Horseshoe kidney
6232	RPS27	HP:0000047	Hypospadias
6232	RPS27	HP:0002669	Osteosarcoma
6232	RPS27	HP:0000006	Autosomal dominant inheritance
6232	RPS27	HP:0000185	Cleft soft palate
6232	RPS27	HP:0012133	Erythroid hypoplasia
6232	RPS27	HP:0410030	Cleft lip
6232	RPS27	HP:0000119	Abnormality of the genitourinary system
6232	RPS27	HP:0000104	Renal agenesis
6232	RPS27	HP:0040276	Adenocarcinoma of the colon
6232	RPS27	HP:0011904	Persistence of hemoglobin F
6232	RPS27	HP:0004808	Acute myeloid leukemia
6232	RPS27	HP:0001087	Developmental glaucoma
6232	RPS27	HP:0020118	Radial artery aplasia
6232	RPS27	HP:0009777	Absent thumb
6232	RPS27	HP:0009778	Short thumb
6232	RPS27	HP:0005532	Macrocytic dyserythropoietic anemia
6232	RPS27	HP:0005518	Increased mean corpuscular volume
6232	RPS27	HP:0001903	Anemia
6232	RPS27	HP:0004322	Short stature
6232	RPS27	HP:0012758	Neurodevelopmental delay
6232	RPS27	HP:0000912	Sprengel anomaly
6232	RPS27	HP:0000980	Pallor
6232	RPS27	HP:0000953	Hyperpigmentation of the skin
6232	RPS27	HP:0000286	Epicanthus
6232	RPS27	HP:0000294	Low anterior hairline
6232	RPS27	HP:0002817	Abnormality of the upper limb
6232	RPS27	HP:0000234	Abnormality of the head
6232	RPS27	HP:0000252	Microcephaly
6232	RPS27	HP:0000218	High palate
6232	RPS27	HP:0002863	Myelodysplasia
6232	RPS27	HP:0001518	Small for gestational age
6232	RPS27	HP:0001510	Growth delay
6232	RPS27	HP:0000369	Low-set ears
6232	RPS27	HP:0001680	Coarctation of aorta
6232	RPS27	HP:0000347	Micrognathia
6232	RPS27	HP:0000316	Hypertelorism
6232	RPS27	HP:0001629	Ventricular septal defect
6232	RPS27	HP:0001627	Abnormal heart morphology
6232	RPS27	HP:0001631	Atrial septal defect
6232	RPS27	HP:0005280	Depressed nasal bridge
6232	RPS27	HP:0000486	Strabismus
6232	RPS27	HP:0001790	Nonimmune hydrops fetalis
6232	RPS27	HP:0000470	Short neck
6232	RPS27	HP:0000465	Webbed neck
6232	RPS27	HP:0030270	Elevated red cell adenosine deaminase level
6232	RPS27	HP:0012410	Pure red cell aplasia
6232	RPS27	HP:0000431	Wide nasal bridge
6232	RPS27	HP:0006758	Malignant genitourinary tract tumor
6232	RPS27	HP:0000519	Developmental cataract
6232	RPS27	HP:0000508	Ptosis
6232	RPS27	HP:0001894	Thrombocytosis
6232	RPS27	HP:0001896	Reticulocytopenia
6232	RPS27	HP:0001895	Normochromic anemia
6232	RPS27	HP:0001882	Leukopenia
6232	RPS27	HP:0001873	Thrombocytopenia
6232	RPS27	HP:0001875	Neutropenia
6234	RPS28	HP:0009944	Partial duplication of thumb phalanx
6234	RPS28	HP:0001199	Triphalangeal thumb
6234	RPS28	HP:0008551	Microtia
6234	RPS28	HP:0001254	Lethargy
6234	RPS28	HP:0001263	Global developmental delay
6234	RPS28	HP:0001227	Abnormality of the thenar eminence
6234	RPS28	HP:0000085	Horseshoe kidney
6234	RPS28	HP:0000047	Hypospadias
6234	RPS28	HP:0002669	Osteosarcoma
6234	RPS28	HP:0000006	Autosomal dominant inheritance
6234	RPS28	HP:0000185	Cleft soft palate
6234	RPS28	HP:0000193	Bifid uvula
6234	RPS28	HP:0000175	Cleft palate
6234	RPS28	HP:0012133	Erythroid hypoplasia
6234	RPS28	HP:0410030	Cleft lip
6234	RPS28	HP:0000119	Abnormality of the genitourinary system
6234	RPS28	HP:0000104	Renal agenesis
6234	RPS28	HP:0011800	Midface retrusion
6234	RPS28	HP:0002098	Respiratory distress
6234	RPS28	HP:0040276	Adenocarcinoma of the colon
6234	RPS28	HP:0011904	Persistence of hemoglobin F
6234	RPS28	HP:0002162	Low posterior hairline
6234	RPS28	HP:0003577	Congenital onset
6234	RPS28	HP:0011968	Feeding difficulties
6234	RPS28	HP:0004808	Acute myeloid leukemia
6234	RPS28	HP:0001087	Developmental glaucoma
6234	RPS28	HP:0020118	Radial artery aplasia
6234	RPS28	HP:0009777	Absent thumb
6234	RPS28	HP:0009778	Short thumb
6234	RPS28	HP:0005532	Macrocytic dyserythropoietic anemia
6234	RPS28	HP:0005518	Increased mean corpuscular volume
6234	RPS28	HP:0001972	Macrocytic anemia
6234	RPS28	HP:0001913	Granulocytopenia
6234	RPS28	HP:0004322	Short stature
6234	RPS28	HP:0000776	Congenital diaphragmatic hernia
6234	RPS28	HP:0012758	Neurodevelopmental delay
6234	RPS28	HP:0000912	Sprengel anomaly
6234	RPS28	HP:0045075	Sparse eyebrow
6234	RPS28	HP:0000980	Pallor
6234	RPS28	HP:0000286	Epicanthus
6234	RPS28	HP:0000294	Low anterior hairline
6234	RPS28	HP:0002817	Abnormality of the upper limb
6234	RPS28	HP:0000234	Abnormality of the head
6234	RPS28	HP:0000252	Microcephaly
6234	RPS28	HP:0000218	High palate
6234	RPS28	HP:0002863	Myelodysplasia
6234	RPS28	HP:0001518	Small for gestational age
6234	RPS28	HP:0001510	Growth delay
6234	RPS28	HP:0000358	Posteriorly rotated ears
6234	RPS28	HP:0000369	Low-set ears
6234	RPS28	HP:0001680	Coarctation of aorta
6234	RPS28	HP:0000347	Micrognathia
6234	RPS28	HP:0000316	Hypertelorism
6234	RPS28	HP:0001629	Ventricular septal defect
6234	RPS28	HP:0001627	Abnormal heart morphology
6234	RPS28	HP:0001631	Atrial septal defect
6234	RPS28	HP:0000407	Sensorineural hearing impairment
6234	RPS28	HP:0000402	Stenosis of the external auditory canal
6234	RPS28	HP:0005280	Depressed nasal bridge
6234	RPS28	HP:0000486	Strabismus
6234	RPS28	HP:0000494	Downslanted palpebral fissures
6234	RPS28	HP:0001790	Nonimmune hydrops fetalis
6234	RPS28	HP:0000475	Broad neck
6234	RPS28	HP:0000470	Short neck
6234	RPS28	HP:0000465	Webbed neck
6234	RPS28	HP:0030270	Elevated red cell adenosine deaminase level
6234	RPS28	HP:0012410	Pure red cell aplasia
6234	RPS28	HP:0000410	Mixed hearing impairment
6234	RPS28	HP:0000431	Wide nasal bridge
6234	RPS28	HP:0006758	Malignant genitourinary tract tumor
6234	RPS28	HP:0000519	Developmental cataract
6234	RPS28	HP:0000508	Ptosis
6234	RPS28	HP:0001894	Thrombocytosis
6234	RPS28	HP:0001896	Reticulocytopenia
6234	RPS28	HP:0001895	Normochromic anemia
6234	RPS28	HP:0001882	Leukopenia
6234	RPS28	HP:0001873	Thrombocytopenia
6234	RPS28	HP:0001875	Neutropenia
6235	RPS29	HP:0009944	Partial duplication of thumb phalanx
6235	RPS29	HP:0001199	Triphalangeal thumb
6235	RPS29	HP:0008551	Microtia
6235	RPS29	HP:0001254	Lethargy
6235	RPS29	HP:0001227	Abnormality of the thenar eminence
6235	RPS29	HP:0003829	Typified by incomplete penetrance
6235	RPS29	HP:0000085	Horseshoe kidney
6235	RPS29	HP:0000047	Hypospadias
6235	RPS29	HP:0002669	Osteosarcoma
6235	RPS29	HP:0000006	Autosomal dominant inheritance
6235	RPS29	HP:0000185	Cleft soft palate
6235	RPS29	HP:0012133	Erythroid hypoplasia
6235	RPS29	HP:0410030	Cleft lip
6235	RPS29	HP:0000119	Abnormality of the genitourinary system
6235	RPS29	HP:0000104	Renal agenesis
6235	RPS29	HP:0040276	Adenocarcinoma of the colon
6235	RPS29	HP:0011904	Persistence of hemoglobin F
6235	RPS29	HP:0003593	Infantile onset
6235	RPS29	HP:0004808	Acute myeloid leukemia
6235	RPS29	HP:0001087	Developmental glaucoma
6235	RPS29	HP:0020118	Radial artery aplasia
6235	RPS29	HP:0009777	Absent thumb
6235	RPS29	HP:0009778	Short thumb
6235	RPS29	HP:0005532	Macrocytic dyserythropoietic anemia
6235	RPS29	HP:0005518	Increased mean corpuscular volume
6235	RPS29	HP:0001999	Abnormal facial shape
6235	RPS29	HP:0004322	Short stature
6235	RPS29	HP:0011463	Childhood onset
6235	RPS29	HP:0012758	Neurodevelopmental delay
6235	RPS29	HP:0000912	Sprengel anomaly
6235	RPS29	HP:0000980	Pallor
6235	RPS29	HP:0000286	Epicanthus
6235	RPS29	HP:0000294	Low anterior hairline
6235	RPS29	HP:0002817	Abnormality of the upper limb
6235	RPS29	HP:0000234	Abnormality of the head
6235	RPS29	HP:0000252	Microcephaly
6235	RPS29	HP:0000218	High palate
6235	RPS29	HP:0002863	Myelodysplasia
6235	RPS29	HP:0001518	Small for gestational age
6235	RPS29	HP:0001510	Growth delay
6235	RPS29	HP:0000369	Low-set ears
6235	RPS29	HP:0001680	Coarctation of aorta
6235	RPS29	HP:0000347	Micrognathia
6235	RPS29	HP:0000316	Hypertelorism
6235	RPS29	HP:0001629	Ventricular septal defect
6235	RPS29	HP:0001627	Abnormal heart morphology
6235	RPS29	HP:0001631	Atrial septal defect
6235	RPS29	HP:0005280	Depressed nasal bridge
6235	RPS29	HP:0000486	Strabismus
6235	RPS29	HP:0001790	Nonimmune hydrops fetalis
6235	RPS29	HP:0000470	Short neck
6235	RPS29	HP:0000465	Webbed neck
6235	RPS29	HP:0030270	Elevated red cell adenosine deaminase level
6235	RPS29	HP:0012410	Pure red cell aplasia
6235	RPS29	HP:0000431	Wide nasal bridge
6235	RPS29	HP:0006758	Malignant genitourinary tract tumor
6235	RPS29	HP:0000519	Developmental cataract
6235	RPS29	HP:0000508	Ptosis
6235	RPS29	HP:0001894	Thrombocytosis
6235	RPS29	HP:0001896	Reticulocytopenia
6235	RPS29	HP:0001895	Normochromic anemia
6235	RPS29	HP:0001897	Normocytic anemia
6235	RPS29	HP:0001882	Leukopenia
6235	RPS29	HP:0001873	Thrombocytopenia
6235	RPS29	HP:0001875	Neutropenia
6237	RRAS	HP:0001156	Brachydactyly
6237	RRAS	HP:0001252	Hypotonia
6237	RRAS	HP:0001260	Dysarthria
6237	RRAS	HP:0000078	Abnormality of the genital system
6237	RRAS	HP:0000044	Hypogonadotropic hypogonadism
6237	RRAS	HP:0000028	Cryptorchidism
6237	RRAS	HP:0008872	Feeding difficulties in infancy
6237	RRAS	HP:0007477	Abnormal dermatoglyphics
6237	RRAS	HP:0001324	Muscle weakness
6237	RRAS	HP:0002650	Scoliosis
6237	RRAS	HP:0000179	Thick lower lip vermilion
6237	RRAS	HP:0002750	Delayed skeletal maturation
6237	RRAS	HP:0011800	Midface retrusion
6237	RRAS	HP:0002167	Abnormality of speech or vocalization
6237	RRAS	HP:0002162	Low posterior hairline
6237	RRAS	HP:0011869	Abnormal platelet function
6237	RRAS	HP:0002240	Hepatomegaly
6237	RRAS	HP:0002208	Coarse hair
6237	RRAS	HP:0100763	Abnormality of the lymphatic system
6237	RRAS	HP:0001004	Lymphedema
6237	RRAS	HP:0100625	Enlarged thorax
6237	RRAS	HP:0004209	Clinodactyly of the 5th finger
6237	RRAS	HP:0000639	Nystagmus
6237	RRAS	HP:0001928	Abnormality of coagulation
6237	RRAS	HP:0011381	Aplasia of the semicircular canal
6237	RRAS	HP:0011362	Abnormal hair quantity
6237	RRAS	HP:0004322	Short stature
6237	RRAS	HP:0030680	Abnormality of cardiovascular system morphology
6237	RRAS	HP:0005692	Joint hyperflexibility
6237	RRAS	HP:0000767	Pectus excavatum
6237	RRAS	HP:0000768	Pectus carinatum
6237	RRAS	HP:0004415	Pulmonary artery stenosis
6237	RRAS	HP:0000995	Melanocytic nevus
6237	RRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
6237	RRAS	HP:0011675	Arrhythmia
6237	RRAS	HP:0000218	High palate
6237	RRAS	HP:0000391	Thickened helices
6237	RRAS	HP:0000368	Low-set, posteriorly rotated ears
6237	RRAS	HP:0000348	High forehead
6237	RRAS	HP:0000347	Micrognathia
6237	RRAS	HP:0000316	Hypertelorism
6237	RRAS	HP:0002974	Radioulnar synostosis
6237	RRAS	HP:0000325	Triangular face
6237	RRAS	HP:0001641	Abnormal pulmonary valve morphology
6237	RRAS	HP:0006610	Wide intermamillary distance
6237	RRAS	HP:0000407	Sensorineural hearing impairment
6237	RRAS	HP:0000486	Strabismus
6237	RRAS	HP:0000476	Cystic hygroma
6237	RRAS	HP:0000494	Downslanted palpebral fissures
6237	RRAS	HP:0000474	Thickened nuchal skin fold
6237	RRAS	HP:0000465	Webbed neck
6237	RRAS	HP:0001743	Abnormality of the spleen
6237	RRAS	HP:0000520	Proptosis
6237	RRAS	HP:0000508	Ptosis
6237	RRAS	HP:0001892	Abnormal bleeding
6239	RREB1	HP:0001166	Arachnodactyly
6239	RREB1	HP:0001161	Hand polydactyly
6239	RREB1	HP:0001136	Retinal arteriolar tortuosity
6239	RREB1	HP:0002435	Meningocele
6239	RREB1	HP:0007302	Bipolar affective disorder
6239	RREB1	HP:0007271	Occipital myelomeningocele
6239	RREB1	HP:0002414	Spina bifida
6239	RREB1	HP:0001281	Tetany
6239	RREB1	HP:0001256	Intellectual disability, mild
6239	RREB1	HP:0001250	Seizure
6239	RREB1	HP:0001252	Hypotonia
6239	RREB1	HP:0001249	Intellectual disability
6239	RREB1	HP:0001263	Global developmental delay
6239	RREB1	HP:0002566	Intestinal malrotation
6239	RREB1	HP:0000089	Renal hypoplasia
6239	RREB1	HP:0000076	Vesicoureteral reflux
6239	RREB1	HP:0001369	Arthritis
6239	RREB1	HP:0000047	Hypospadias
6239	RREB1	HP:0000023	Inguinal hernia
6239	RREB1	HP:0002691	Platybasia
6239	RREB1	HP:0000028	Cryptorchidism
6239	RREB1	HP:0008872	Feeding difficulties in infancy
6239	RREB1	HP:0001328	Specific learning disability
6239	RREB1	HP:0002650	Scoliosis
6239	RREB1	HP:0002619	Varicose veins
6239	RREB1	HP:0002607	Bowel incontinence
6239	RREB1	HP:0000164	Abnormality of the dentition
6239	RREB1	HP:0000160	Narrow mouth
6239	RREB1	HP:0000175	Cleft palate
6239	RREB1	HP:0000113	Polycystic kidney dysplasia
6239	RREB1	HP:0000130	Abnormality of the uterus
6239	RREB1	HP:0002721	Immunodeficiency
6239	RREB1	HP:0002023	Anal atresia
6239	RREB1	HP:0002020	Gastroesophageal reflux
6239	RREB1	HP:0002019	Constipation
6239	RREB1	HP:0003326	Myalgia
6239	RREB1	HP:0002099	Asthma
6239	RREB1	HP:0002139	Arrhinencephaly
6239	RREB1	HP:0002101	Abnormal lung lobation
6239	RREB1	HP:0002239	Gastrointestinal hemorrhage
6239	RREB1	HP:0002251	Aganglionic megacolon
6239	RREB1	HP:0100765	Abnormality of the tonsils
6239	RREB1	HP:0100735	Hypertensive crisis
6239	RREB1	HP:0100750	Atelectasis
6239	RREB1	HP:0100753	Schizophrenia
6239	RREB1	HP:0007018	Attention deficit hyperactivity disorder
6239	RREB1	HP:0001051	Seborrheic dermatitis
6239	RREB1	HP:0001053	Hypopigmented skin patches
6239	RREB1	HP:0002381	Aphasia
6239	RREB1	HP:0001061	Acne
6239	RREB1	HP:0001081	Cholelithiasis
6239	RREB1	HP:0005562	Multiple renal cysts
6239	RREB1	HP:0000648	Optic atrophy
6239	RREB1	HP:0000627	Posterior embryotoxon
6239	RREB1	HP:0000600	Abnormality of the pharynx
6239	RREB1	HP:0000682	Abnormal dental enamel morphology
6239	RREB1	HP:0011324	Multiple suture craniosynostosis
6239	RREB1	HP:0000670	Carious teeth
6239	RREB1	HP:0001999	Abnormal facial shape
6239	RREB1	HP:0004322	Short stature
6239	RREB1	HP:0030680	Abnormality of cardiovascular system morphology
6239	RREB1	HP:0005692	Joint hyperflexibility
6239	RREB1	HP:0012732	Anorectal anomaly
6239	RREB1	HP:0000765	Abnormal thorax morphology
6239	RREB1	HP:0000739	Anxiety
6239	RREB1	HP:0000716	Depression
6239	RREB1	HP:0000717	Autism
6239	RREB1	HP:0000708	Atypical behavior
6239	RREB1	HP:0011496	Corneal neovascularization
6239	RREB1	HP:0000778	Hypoplasia of the thymus
6239	RREB1	HP:0000929	Abnormal skull morphology
6239	RREB1	HP:0000836	Hyperthyroidism
6239	RREB1	HP:0000829	Hypoparathyroidism
6239	RREB1	HP:0000821	Hypothyroidism
6239	RREB1	HP:0011662	Tricuspid atresia
6239	RREB1	HP:0000979	Purpura
6239	RREB1	HP:0000286	Epicanthus
6239	RREB1	HP:0000262	Turricephaly
6239	RREB1	HP:0000276	Long face
6239	RREB1	HP:0000272	Malar flattening
6239	RREB1	HP:0000238	Hydrocephalus
6239	RREB1	HP:0000252	Microcephaly
6239	RREB1	HP:0001561	Polyhydramnios
6239	RREB1	HP:0001537	Umbilical hernia
6239	RREB1	HP:0001508	Failure to thrive
6239	RREB1	HP:0001511	Intrauterine growth retardation
6239	RREB1	HP:0001513	Obesity
6239	RREB1	HP:0006510	Chronic pulmonary obstruction
6239	RREB1	HP:0000385	Small earlobe
6239	RREB1	HP:0000396	Overfolded helix
6239	RREB1	HP:0000389	Chronic otitis media
6239	RREB1	HP:0001601	Laryngomalacia
6239	RREB1	HP:0001611	Hypernasal speech
6239	RREB1	HP:0002901	Hypocalcemia
6239	RREB1	HP:0000365	Hearing impairment
6239	RREB1	HP:0000369	Low-set ears
6239	RREB1	HP:0000343	Long philtrum
6239	RREB1	HP:0002999	Patellar dislocation
6239	RREB1	HP:0000347	Micrognathia
6239	RREB1	HP:0012303	Abnormal aortic arch morphology
6239	RREB1	HP:0000316	Hypertelorism
6239	RREB1	HP:0001646	Abnormal aortic valve morphology
6239	RREB1	HP:0001643	Patent ductus arteriosus
6239	RREB1	HP:0001660	Truncus arteriosus
6239	RREB1	HP:0000322	Short philtrum
6239	RREB1	HP:0002960	Autoimmunity
6239	RREB1	HP:0001629	Ventricular septal defect
6239	RREB1	HP:0001641	Abnormal pulmonary valve morphology
6239	RREB1	HP:0001636	Tetralogy of Fallot
6239	RREB1	HP:0001631	Atrial septal defect
6239	RREB1	HP:0000405	Conductive hearing impairment
6239	RREB1	HP:0000486	Strabismus
6239	RREB1	HP:0000494	Downslanted palpebral fissures
6239	RREB1	HP:0000492	Abnormal eyelid morphology
6239	RREB1	HP:0000470	Short neck
6239	RREB1	HP:0000453	Choanal atresia
6239	RREB1	HP:0000414	Bulbous nose
6239	RREB1	HP:0001744	Splenomegaly
6239	RREB1	HP:0001762	Talipes equinovarus
6239	RREB1	HP:0000431	Wide nasal bridge
6239	RREB1	HP:0000426	Prominent nasal bridge
6239	RREB1	HP:0005435	Impaired T cell function
6239	RREB1	HP:0000518	Cataract
6239	RREB1	HP:0001829	Foot polydactyly
6239	RREB1	HP:0000506	Telecanthus
6239	RREB1	HP:0000508	Ptosis
6239	RREB1	HP:0000501	Glaucoma
6239	RREB1	HP:0000582	Upslanted palpebral fissure
6239	RREB1	HP:0000568	Microphthalmia
6239	RREB1	HP:0001872	Abnormality of thrombocytes
6239	RREB1	HP:0001873	Thrombocytopenia
6247	RS1	HP:0001105	Retinal atrophy
6247	RS1	HP:0007401	Macular atrophy
6247	RS1	HP:0007667	Peripheral cystoid retinal degeneration
6247	RS1	HP:0001419	X-linked recessive inheritance
6247	RS1	HP:0030502	Retinoschisis
6247	RS1	HP:0030824	Mizuo phenomenon
6247	RS1	HP:0007722	Retinal pigment epithelial atrophy
6247	RS1	HP:0007902	Vitreous hemorrhage
6247	RS1	HP:0007984	Electronegative electroretinogram
6247	RS1	HP:0000478	Abnormality of the eye
6247	RS1	HP:0000496	Abnormality of eye movement
6247	RS1	HP:0000518	Cataract
6247	RS1	HP:0000512	Abnormal electroretinogram
6247	RS1	HP:0000529	Progressive visual loss
6247	RS1	HP:0000504	Abnormality of vision
6247	RS1	HP:0000501	Glaucoma
6247	RS1	HP:0000541	Retinal detachment
6247	RS1	HP:0000540	Hypermetropia
6247	RS1	HP:0000546	Retinal degeneration
6253	RTN2	HP:0007210	Lower limb amyotrophy
6253	RTN2	HP:0001250	Seizure
6253	RTN2	HP:0001258	Spastic paraplegia
6253	RTN2	HP:0007350	Hyperreflexia in upper limbs
6253	RTN2	HP:0007340	Lower limb muscle weakness
6253	RTN2	HP:0000020	Urinary incontinence
6253	RTN2	HP:0001347	Hyperreflexia
6253	RTN2	HP:0000012	Urinary urgency
6253	RTN2	HP:0000006	Autosomal dominant inheritance
6253	RTN2	HP:0002607	Bowel incontinence
6253	RTN2	HP:0040307	Male sexual dysfunction
6253	RTN2	HP:0100561	Spinal cord lesion
6253	RTN2	HP:0003394	Muscle spasm
6253	RTN2	HP:0002064	Spastic gait
6253	RTN2	HP:0002061	Lower limb spasticity
6253	RTN2	HP:0002070	Limb ataxia
6253	RTN2	HP:0003487	Babinski sign
6253	RTN2	HP:0003457	EMG abnormality
6253	RTN2	HP:0002169	Clonus
6253	RTN2	HP:0002166	Impaired vibration sensation in the lower limbs
6253	RTN2	HP:0007020	Progressive spastic paraplegia
6253	RTN2	HP:0003676	Progressive
6253	RTN2	HP:0002355	Difficulty walking
6253	RTN2	HP:0002314	Degeneration of the lateral corticospinal tracts
6253	RTN2	HP:0010831	Impaired proprioception
6253	RTN2	HP:0011449	Knee clonus
6253	RTN2	HP:0011448	Ankle clonus
6253	RTN2	HP:0012898	Abnormal lower-limb motor evoked potentials
6253	RTN2	HP:0008075	Progressive pes cavus
6253	RTN2	HP:0030014	Female sexual dysfunction
6253	RTN2	HP:0002839	Urinary bladder sphincter dysfunction
6253	RTN2	HP:0002921	Abnormal cerebrospinal fluid morphology
6253	RTN2	HP:0001761	Pes cavus
6261	RYR1	HP:0002483	Bulbar signs
6261	RYR1	HP:0002480	Hepatic encephalopathy
6261	RYR1	HP:0003789	Minicore myopathy
6261	RYR1	HP:0003787	Type 1 and type 2 muscle fiber minicore regions
6261	RYR1	HP:0003798	Nemaline bodies
6261	RYR1	HP:0003749	Pelvic girdle muscle weakness
6261	RYR1	HP:0003738	Exercise-induced myalgia
6261	RYR1	HP:0003701	Proximal muscle weakness
6261	RYR1	HP:0003700	Generalized amyotrophy
6261	RYR1	HP:0003710	Exercise-induced muscle cramps
6261	RYR1	HP:0001290	Generalized hypotonia
6261	RYR1	HP:0100807	Long fingers
6261	RYR1	HP:0001270	Motor delay
6261	RYR1	HP:0001289	Confusion
6261	RYR1	HP:0001288	Gait disturbance
6261	RYR1	HP:0001284	Areflexia
6261	RYR1	HP:0001254	Lethargy
6261	RYR1	HP:0001256	Intellectual disability, mild
6261	RYR1	HP:0001250	Seizure
6261	RYR1	HP:0001252	Hypotonia
6261	RYR1	HP:0001251	Ataxia
6261	RYR1	HP:0001265	Hyporeflexia
6261	RYR1	HP:0001260	Dysarthria
6261	RYR1	HP:0008689	Bilateral cryptorchidism
6261	RYR1	HP:0002515	Waddling gait
6261	RYR1	HP:0002522	Areflexia of lower limbs
6261	RYR1	HP:0003803	Type 1 muscle fiber predominance
6261	RYR1	HP:0001399	Hepatic failure
6261	RYR1	HP:0001374	Congenital hip dislocation
6261	RYR1	HP:0000046	Small scrotum
6261	RYR1	HP:0001371	Flexion contracture
6261	RYR1	HP:0012036	Sternocleidomastoid amyotrophy
6261	RYR1	HP:0000054	Micropenis
6261	RYR1	HP:0001388	Joint laxity
6261	RYR1	HP:0001382	Joint hypermobility
6261	RYR1	HP:0000020	Urinary incontinence
6261	RYR1	HP:0001349	Facial diplegia
6261	RYR1	HP:0000028	Cryptorchidism
6261	RYR1	HP:0008872	Feeding difficulties in infancy
6261	RYR1	HP:0008850	Severe postnatal growth retardation
6261	RYR1	HP:0001324	Muscle weakness
6261	RYR1	HP:0000007	Autosomal recessive inheritance
6261	RYR1	HP:0000006	Autosomal dominant inheritance
6261	RYR1	HP:0002650	Scoliosis
6261	RYR1	HP:0001319	Neonatal hypotonia
6261	RYR1	HP:0002643	Neonatal respiratory distress
6261	RYR1	HP:0002615	Hypotension
6261	RYR1	HP:0031139	Frog-leg posture
6261	RYR1	HP:0000193	Bifid uvula
6261	RYR1	HP:0000160	Narrow mouth
6261	RYR1	HP:0001488	Bilateral ptosis
6261	RYR1	HP:0008994	Proximal muscle weakness in lower limbs
6261	RYR1	HP:0008997	Proximal muscle weakness in upper limbs
6261	RYR1	HP:0005001	Recurrent patellar dislocation
6261	RYR1	HP:0008981	Calf muscle hypertrophy
6261	RYR1	HP:0008978	Necrotizing myopathy
6261	RYR1	HP:0008959	Distal upper limb muscle weakness
6261	RYR1	HP:0008954	Intrinsic hand muscle atrophy
6261	RYR1	HP:0008942	Acute rhabdomyolysis
6261	RYR1	HP:0031284	Flushing
6261	RYR1	HP:0002795	Abnormal respiratory system physiology
6261	RYR1	HP:0002789	Tachypnea
6261	RYR1	HP:0001436	Abnormality of the foot musculature
6261	RYR1	HP:0001410	Decreased liver function
6261	RYR1	HP:0002751	Kyphoscoliosis
6261	RYR1	HP:0031237	Internally nucleated skeletal muscle fibers
6261	RYR1	HP:0002747	Respiratory insufficiency due to muscle weakness
6261	RYR1	HP:0031258	Delirium
6261	RYR1	HP:0002021	Pyloric stenosis
6261	RYR1	HP:0002018	Nausea
6261	RYR1	HP:0002002	Deep philtrum
6261	RYR1	HP:0003327	Axial muscle weakness
6261	RYR1	HP:0002013	Vomiting
6261	RYR1	HP:0003307	Hyperlordosis
6261	RYR1	HP:0005967	Mixed respiratory and metabolic acidosis
6261	RYR1	HP:0003323	Progressive muscle weakness
6261	RYR1	HP:0003324	Generalized muscle weakness
6261	RYR1	HP:0011807	Type 1 muscle fiber atrophy
6261	RYR1	HP:0011805	Abnormal skeletal muscle morphology
6261	RYR1	HP:0011800	Midface retrusion
6261	RYR1	HP:0002089	Pulmonary hypoplasia
6261	RYR1	HP:0002093	Respiratory insufficiency
6261	RYR1	HP:0002090	Pneumonia
6261	RYR1	HP:0002063	Rigidity
6261	RYR1	HP:0003391	Gowers sign
6261	RYR1	HP:0002047	Malignant hyperthermia
6261	RYR1	HP:0002058	Myopathic facies
6261	RYR1	HP:0003388	Easy fatigability
6261	RYR1	HP:0100520	Oliguria
6261	RYR1	HP:0011703	Sinus tachycardia
6261	RYR1	HP:0008180	Mildly elevated creatine kinase
6261	RYR1	HP:0003477	Peripheral axonal neuropathy
6261	RYR1	HP:0003473	Fatigable weakness
6261	RYR1	HP:0002153	Hyperkalemia
6261	RYR1	HP:0003458	EMG: myopathic abnormalities
6261	RYR1	HP:0004756	Ventricular tachycardia
6261	RYR1	HP:0004755	Supraventricular tachycardia
6261	RYR1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
6261	RYR1	HP:0002194	Delayed gross motor development
6261	RYR1	HP:0010546	Muscle fibrillation
6261	RYR1	HP:0003593	Infantile onset
6261	RYR1	HP:0003577	Congenital onset
6261	RYR1	HP:0003552	Muscle stiffness
6261	RYR1	HP:0003551	Difficulty climbing stairs
6261	RYR1	HP:0003547	Shoulder girdle muscle weakness
6261	RYR1	HP:0003560	Muscular dystrophy
6261	RYR1	HP:0003557	Increased variability in muscle fiber diameter
6261	RYR1	HP:0002205	Recurrent respiratory infections
6261	RYR1	HP:0008331	Elevated creatine kinase after exercise
6261	RYR1	HP:0011968	Feeding difficulties
6261	RYR1	HP:0011964	Intermittent painful muscle spasms
6261	RYR1	HP:0010628	Facial palsy
6261	RYR1	HP:0002380	Fasciculations
6261	RYR1	HP:0001048	Cavernous hemangioma
6261	RYR1	HP:0003691	Scapular winging
6261	RYR1	HP:0002355	Difficulty walking
6261	RYR1	HP:0003687	Centrally nucleated skeletal muscle fibers
6261	RYR1	HP:0003677	Slowly progressive
6261	RYR1	HP:0002321	Vertigo
6261	RYR1	HP:0002315	Headache
6261	RYR1	HP:0004976	Knee dislocation
6261	RYR1	HP:0010804	Tented upper lip vermilion
6261	RYR1	HP:0001072	Thickened skin
6261	RYR1	HP:0009765	Low hanging columella
6261	RYR1	HP:0003623	Neonatal onset
6261	RYR1	HP:0003621	Juvenile onset
6261	RYR1	HP:0005521	Disseminated intravascular coagulation
6261	RYR1	HP:0011399	Tibialis anterior muscle atrophy
6261	RYR1	HP:0001945	Fever
6261	RYR1	HP:0001942	Metabolic acidosis
6261	RYR1	HP:0000602	Ophthalmoplegia
6261	RYR1	HP:0001919	Acute kidney injury
6261	RYR1	HP:0009062	Infantile axial hypotonia
6261	RYR1	HP:0009045	Exercise-induced rhabdomyolysis
6261	RYR1	HP:0009046	Difficulty running
6261	RYR1	HP:0009025	Increased connective tissue
6261	RYR1	HP:0001989	Fetal akinesia sequence
6261	RYR1	HP:0001999	Abnormal facial shape
6261	RYR1	HP:0004322	Short stature
6261	RYR1	HP:0005692	Joint hyperflexibility
6261	RYR1	HP:0003011	Abnormality of the musculature
6261	RYR1	HP:0031936	Delayed ability to walk
6261	RYR1	HP:0000750	Delayed speech and language development
6261	RYR1	HP:0000707	Abnormality of the nervous system
6261	RYR1	HP:0011463	Childhood onset
6261	RYR1	HP:0011461	Fetal onset
6261	RYR1	HP:0012768	Neonatal asphyxia
6261	RYR1	HP:0030799	Scaphocephaly
6261	RYR1	HP:0003198	Myopathy
6261	RYR1	HP:0004488	Macrocephaly at birth
6261	RYR1	HP:0003128	Lactic acidosis
6261	RYR1	HP:0000883	Thin ribs
6261	RYR1	HP:0040081	Abnormal circulating creatine kinase concentration
6261	RYR1	HP:0003236	Elevated circulating creatine kinase concentration
6261	RYR1	HP:0030850	Abnormal pulse pressure
6261	RYR1	HP:0003202	Skeletal muscle atrophy
6261	RYR1	HP:0003201	Rhabdomyolysis
6261	RYR1	HP:0003273	Hip contracture
6261	RYR1	HP:0030830	Crackles
6261	RYR1	HP:0003256	Abnormality of the coagulation cascade
6261	RYR1	HP:0000958	Dry skin
6261	RYR1	HP:0000970	Anhidrosis
6261	RYR1	HP:0000969	Edema
6261	RYR1	HP:0100295	Muscle fiber atrophy
6261	RYR1	HP:0100293	Hypertrophied muscle fibers
6261	RYR1	HP:0040191	Rectus femoris muscle atrophy
6261	RYR1	HP:0000286	Epicanthus
6261	RYR1	HP:0000278	Retrognathia
6261	RYR1	HP:0012250	ST segment depression
6261	RYR1	HP:0000275	Narrow face
6261	RYR1	HP:0000276	Long face
6261	RYR1	HP:0000268	Dolichocephaly
6261	RYR1	HP:0005135	Abnormal T-wave
6261	RYR1	HP:0006466	Ankle flexion contracture
6261	RYR1	HP:0002828	Multiple joint contractures
6261	RYR1	HP:0031320	Cardiomyocyte mitochondrial proliferation
6261	RYR1	HP:0002878	Respiratory failure
6261	RYR1	HP:0000218	High palate
6261	RYR1	HP:0001561	Polyhydramnios
6261	RYR1	HP:0001558	Decreased fetal movement
6261	RYR1	HP:0001508	Failure to thrive
6261	RYR1	HP:0001520	Large for gestational age
6261	RYR1	HP:0012391	Hyporeflexia of upper limbs
6261	RYR1	HP:0012378	Fatigue
6261	RYR1	HP:0005268	Miscarriage
6261	RYR1	HP:0006554	Acute hepatic failure
6261	RYR1	HP:0002938	Lumbar hyperlordosis
6261	RYR1	HP:0001618	Dysphonia
6261	RYR1	HP:0002942	Thoracic kyphosis
6261	RYR1	HP:0001612	Weak cry
6261	RYR1	HP:0002913	Myoglobinuria
6261	RYR1	HP:0002905	Hyperphosphatemia
6261	RYR1	HP:0002901	Hypocalcemia
6261	RYR1	HP:0000369	Low-set ears
6261	RYR1	HP:0000341	Narrow forehead
6261	RYR1	HP:0000316	Hypertelorism
6261	RYR1	HP:0001649	Tachycardia
6261	RYR1	HP:0001657	Prolonged QT interval
6261	RYR1	HP:0001654	Abnormal heart valve morphology
6261	RYR1	HP:0001629	Ventricular septal defect
6261	RYR1	HP:0001623	Breech presentation
6261	RYR1	HP:0001634	Mitral valve prolapse
6261	RYR1	HP:0030319	Weakness of facial musculature
6261	RYR1	HP:0006682	Premature ventricular contraction
6261	RYR1	HP:0001722	High-output congestive heart failure
6261	RYR1	HP:3000005	Abnormality of masseter muscle
6261	RYR1	HP:0001712	Left ventricular hypertrophy
6261	RYR1	HP:0000494	Downslanted palpebral fissures
6261	RYR1	HP:0030230	Central core regions in muscle fibers
6261	RYR1	HP:0001789	Hydrops fetalis
6261	RYR1	HP:0000455	Broad nasal tip
6261	RYR1	HP:0000470	Short neck
6261	RYR1	HP:0000465	Webbed neck
6261	RYR1	HP:0001763	Pes planus
6261	RYR1	HP:0012416	Hypercapnia
6261	RYR1	HP:0012417	Hypocapnia
6261	RYR1	HP:0000411	Protruding ear
6261	RYR1	HP:0001762	Talipes equinovarus
6261	RYR1	HP:0000431	Wide nasal bridge
6261	RYR1	HP:0001761	Pes cavus
6261	RYR1	HP:0000508	Ptosis
6261	RYR1	HP:0000597	Ophthalmoparesis
6261	RYR1	HP:0001892	Abnormal bleeding
6261	RYR1	HP:0011220	Prominent forehead
6261	RYR1	HP:0001883	Talipes
6261	RYR1	HP:0001873	Thrombocytopenia
6261	RYR1	HP:0000544	External ophthalmoplegia
6262	RYR2	HP:0001279	Syncope
6262	RYR2	HP:0001250	Seizure
6262	RYR2	HP:0000006	Autosomal dominant inheritance
6262	RYR2	HP:0025478	Atrial standstill
6262	RYR2	HP:0011704	Sick sinus syndrome
6262	RYR2	HP:0004758	Effort-induced polymorphic ventricular tachycardia
6262	RYR2	HP:0004757	Paroxysmal atrial fibrillation
6262	RYR2	HP:0004756	Ventricular tachycardia
6262	RYR2	HP:0002321	Vertigo
6262	RYR2	HP:0003621	Juvenile onset
6262	RYR2	HP:0034039	Ventricular couplet
6262	RYR2	HP:0034040	Bidirectional ventricular tachycardia
6262	RYR2	HP:0011463	Childhood onset
6262	RYR2	HP:0011462	Young adult onset
6262	RYR2	HP:0011664	Left ventricular noncompaction cardiomyopathy
6262	RYR2	HP:0001664	Torsade de pointes
6262	RYR2	HP:0001678	Atrioventricular block
6262	RYR2	HP:0001645	Sudden cardiac death
6262	RYR2	HP:0001644	Dilated cardiomyopathy
6262	RYR2	HP:0001663	Ventricular fibrillation
6262	RYR2	HP:0031628	Aborted sudden cardiac death
6262	RYR2	HP:0006696	Polymorphic and polytopic ventricular extrasystoles
6262	RYR2	HP:0006673	Reduced systolic function
6288	SAA1	HP:0000093	Proteinuria
6288	SAA1	HP:0001396	Cholestasis
6288	SAA1	HP:0000077	Abnormality of the kidney
6288	SAA1	HP:0002615	Hypotension
6288	SAA1	HP:0000100	Nephrotic syndrome
6288	SAA1	HP:0000112	Nephropathy
6288	SAA1	HP:0000105	Enlarged kidney
6288	SAA1	HP:0002024	Malabsorption
6288	SAA1	HP:0002018	Nausea
6288	SAA1	HP:0002027	Abdominal pain
6288	SAA1	HP:0002028	Chronic diarrhea
6288	SAA1	HP:0002013	Vomiting
6288	SAA1	HP:0011830	Abnormal oral mucosa morphology
6288	SAA1	HP:0002240	Hepatomegaly
6288	SAA1	HP:0004936	Venous thrombosis
6288	SAA1	HP:0012622	Chronic kidney disease
6288	SAA1	HP:0001919	Acute kidney injury
6288	SAA1	HP:0001917	Renal amyloidosis
6288	SAA1	HP:0004395	Malnutrition
6288	SAA1	HP:0000846	Adrenal insufficiency
6288	SAA1	HP:0000821	Hypothyroidism
6288	SAA1	HP:0011034	Amyloidosis
6288	SAA1	HP:0001627	Abnormal heart morphology
6295	SAG	HP:0001123	Visual field defect
6295	SAG	HP:0001249	Intellectual disability
6295	SAG	HP:0008736	Hypoplasia of penis
6295	SAG	HP:0001347	Hyperreflexia
6295	SAG	HP:0000035	Abnormal testis morphology
6295	SAG	HP:0000007	Autosomal recessive inheritance
6295	SAG	HP:0000135	Hypogonadism
6295	SAG	HP:0007675	Progressive night blindness
6295	SAG	HP:0007663	Reduced visual acuity
6295	SAG	HP:0007641	Dyschromatopsia
6295	SAG	HP:0007642	Congenital stationary night blindness
6295	SAG	HP:0005978	Type II diabetes mellitus
6295	SAG	HP:0000639	Nystagmus
6295	SAG	HP:0000651	Diplopia
6295	SAG	HP:0000648	Optic atrophy
6295	SAG	HP:0000618	Blindness
6295	SAG	HP:0000613	Photophobia
6295	SAG	HP:0000608	Macular degeneration
6295	SAG	HP:0000602	Ophthalmoplegia
6295	SAG	HP:0030469	Abnormal dark-adapted electroretinogram
6295	SAG	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
6295	SAG	HP:0000662	Nyctalopia
6295	SAG	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
6295	SAG	HP:0030639	Congenital stationary night blindness with abnormal fundus
6295	SAG	HP:0030638	Congenital stationary night blindness with normal fundus
6295	SAG	HP:0000842	Hyperinsulinemia
6295	SAG	HP:0030824	Mizuo phenomenon
6295	SAG	HP:0000987	Atypical scarring of skin
6295	SAG	HP:0008046	Abnormal retinal vascular morphology
6295	SAG	HP:0007703	Abnormality of retinal pigmentation
6295	SAG	HP:0001513	Obesity
6295	SAG	HP:0030329	Retinal thinning
6295	SAG	HP:0007984	Electronegative electroretinogram
6295	SAG	HP:0000407	Sensorineural hearing impairment
6295	SAG	HP:0000405	Conductive hearing impairment
6295	SAG	HP:0000486	Strabismus
6295	SAG	HP:0000463	Anteverted nares
6295	SAG	HP:0000431	Wide nasal bridge
6295	SAG	HP:0031705	Compensatory head posture
6295	SAG	HP:0000518	Cataract
6295	SAG	HP:0000510	Rod-cone dystrophy
6295	SAG	HP:0000512	Abnormal electroretinogram
6295	SAG	HP:0000505	Visual impairment
6295	SAG	HP:0000501	Glaucoma
6295	SAG	HP:0000580	Pigmentary retinopathy
6295	SAG	HP:0000563	Keratoconus
6295	SAG	HP:0000540	Hypermetropia
6295	SAG	HP:0000539	Abnormality of refraction
6295	SAG	HP:0000533	Chorioretinal atrophy
6295	SAG	HP:0000551	Color vision defect
6295	SAG	HP:0000545	Myopia
6297	SALL2	HP:0001132	Lens subluxation
6297	SALL2	HP:0000007	Autosomal recessive inheritance
6297	SALL2	HP:0007663	Reduced visual acuity
6297	SALL2	HP:0000639	Nystagmus
6297	SALL2	HP:0000612	Iris coloboma
6297	SALL2	HP:0025586	Hypertropia
6297	SALL2	HP:0000480	Retinal coloboma
6297	SALL2	HP:0000518	Cataract
6297	SALL2	HP:0000577	Exotropia
6297	SALL2	HP:0000588	Optic disc coloboma
6297	SALL2	HP:0000565	Esotropia
6299	SALL1	HP:0001177	Preaxial hand polydactyly
6299	SALL1	HP:0001140	Limbal dermoid
6299	SALL1	HP:0009944	Partial duplication of thumb phalanx
6299	SALL1	HP:0001199	Triphalangeal thumb
6299	SALL1	HP:0009921	Duane anomaly
6299	SALL1	HP:0009912	Abnormal tragus morphology
6299	SALL1	HP:0008572	External ear malformation
6299	SALL1	HP:0008551	Microtia
6299	SALL1	HP:0001274	Agenesis of corpus callosum
6299	SALL1	HP:0001249	Intellectual disability
6299	SALL1	HP:0001263	Global developmental delay
6299	SALL1	HP:0002575	Tracheoesophageal fistula
6299	SALL1	HP:0008736	Hypoplasia of penis
6299	SALL1	HP:0006097	3-4 finger syndactyly
6299	SALL1	HP:0000089	Renal hypoplasia
6299	SALL1	HP:0000083	Renal insufficiency
6299	SALL1	HP:0000086	Ectopic kidney
6299	SALL1	HP:0000077	Abnormality of the kidney
6299	SALL1	HP:0000076	Vesicoureteral reflux
6299	SALL1	HP:0000048	Bifid scrotum
6299	SALL1	HP:0000047	Hypospadias
6299	SALL1	HP:0001360	Holoprosencephaly
6299	SALL1	HP:0000028	Cryptorchidism
6299	SALL1	HP:0006179	Pseudoepiphyses of second metacarpal
6299	SALL1	HP:0000003	Multicystic kidney dysplasia
6299	SALL1	HP:0000006	Autosomal dominant inheritance
6299	SALL1	HP:0002607	Bowel incontinence
6299	SALL1	HP:0000143	Rectovaginal fistula
6299	SALL1	HP:0000142	Abnormal vagina morphology
6299	SALL1	HP:0000136	Bifid uterus
6299	SALL1	HP:0000154	Wide mouth
6299	SALL1	HP:0001482	Subcutaneous nodule
6299	SALL1	HP:0000130	Abnormality of the uterus
6299	SALL1	HP:0000110	Renal dysplasia
6299	SALL1	HP:0001440	Metatarsal synostosis
6299	SALL1	HP:0002025	Anal stenosis
6299	SALL1	HP:0002023	Anal atresia
6299	SALL1	HP:0002020	Gastroesophageal reflux
6299	SALL1	HP:0002019	Constipation
6299	SALL1	HP:0004692	4-5 toe syndactyly
6299	SALL1	HP:0004691	2-3 toe syndactyly
6299	SALL1	HP:0100559	Lower limb asymmetry
6299	SALL1	HP:0009465	Ulnar deviation of finger
6299	SALL1	HP:0010481	Urethral valve
6299	SALL1	HP:0002144	Tethered cord
6299	SALL1	HP:0003468	Abnormal vertebral morphology
6299	SALL1	HP:0004792	Rectoperineal fistula
6299	SALL1	HP:0003577	Congenital onset
6299	SALL1	HP:0002247	Duodenal atresia
6299	SALL1	HP:0010711	1-2 toe syndactyly
6299	SALL1	HP:0010709	2-4 finger syndactyly
6299	SALL1	HP:0010760	Absent toe
6299	SALL1	HP:0009779	3-4 toe syndactyly
6299	SALL1	HP:0010743	Short metatarsal
6299	SALL1	HP:0002308	Chiari malformation
6299	SALL1	HP:0004209	Clinodactyly of the 5th finger
6299	SALL1	HP:0006824	Cranial nerve paralysis
6299	SALL1	HP:0010059	Broad hallux phalanx
6299	SALL1	HP:0005562	Multiple renal cysts
6299	SALL1	HP:0000612	Iris coloboma
6299	SALL1	HP:0011304	Broad thumb
6299	SALL1	HP:0004322	Short stature
6299	SALL1	HP:0030676	Satyr ear
6299	SALL1	HP:0030680	Abnormality of cardiovascular system morphology
6299	SALL1	HP:0000772	Abnormal rib morphology
6299	SALL1	HP:0100015	Stahl ear
6299	SALL1	HP:0004453	Overfolding of the superior helices
6299	SALL1	HP:0004467	Preauricular pit
6299	SALL1	HP:0000821	Hypothyroidism
6299	SALL1	HP:0000823	Delayed puberty
6299	SALL1	HP:0010331	Aplasia/Hypoplasia of the 3rd toe
6299	SALL1	HP:0000238	Hydrocephalus
6299	SALL1	HP:0000252	Microcephaly
6299	SALL1	HP:0001545	Anteriorly placed anus
6299	SALL1	HP:0001537	Umbilical hernia
6299	SALL1	HP:0001508	Failure to thrive
6299	SALL1	HP:0001518	Small for gestational age
6299	SALL1	HP:0000384	Preauricular skin tag
6299	SALL1	HP:0000396	Overfolded helix
6299	SALL1	HP:0000394	Lop ear
6299	SALL1	HP:0000365	Hearing impairment
6299	SALL1	HP:0001671	Abnormal cardiac septum morphology
6299	SALL1	HP:0001643	Patent ductus arteriosus
6299	SALL1	HP:0000324	Facial asymmetry
6299	SALL1	HP:0001629	Ventricular septal defect
6299	SALL1	HP:0001641	Abnormal pulmonary valve morphology
6299	SALL1	HP:0001636	Tetralogy of Fallot
6299	SALL1	HP:0001631	Atrial septal defect
6299	SALL1	HP:0000407	Sensorineural hearing impairment
6299	SALL1	HP:0000400	Macrotia
6299	SALL1	HP:0000486	Strabismus
6299	SALL1	HP:0001770	Toe syndactyly
6299	SALL1	HP:0001763	Pes planus
6299	SALL1	HP:0000453	Choanal atresia
6299	SALL1	HP:0001760	Abnormal foot morphology
6299	SALL1	HP:0000518	Cataract
6299	SALL1	HP:0000504	Abnormality of vision
6299	SALL1	HP:0000581	Blepharophimosis
6299	SALL1	HP:0000568	Microphthalmia
6299	SALL1	HP:0000567	Chorioretinal coloboma
6299	SALL1	HP:0001863	Toe clinodactyly
6299	SALL1	HP:0001864	Clinodactyly of the 5th toe
6299	SALL1	HP:0001883	Talipes
6301	SARS1	HP:0001251	Ataxia
6301	SARS1	HP:0001263	Global developmental delay
6301	SARS1	HP:0001324	Muscle weakness
6301	SARS1	HP:0000007	Autosomal recessive inheritance
6301	SARS1	HP:0002069	Bilateral tonic-clonic seizure
6301	SARS1	HP:0003593	Infantile onset
6301	SARS1	HP:0002342	Intellectual disability, moderate
6301	SARS1	HP:0000718	Aggressive behavior
6301	SARS1	HP:0000252	Microcephaly
6301	SARS1	HP:0001533	Slender build
6301	SARS1	HP:0001763	Pes planus
6304	SATB1	HP:0001197	Abnormality of prenatal development or birth
6304	SATB1	HP:0010864	Intellectual disability, severe
6304	SATB1	HP:0001270	Motor delay
6304	SATB1	HP:0001250	Seizure
6304	SATB1	HP:0001252	Hypotonia
6304	SATB1	HP:0001251	Ataxia
6304	SATB1	HP:0001249	Intellectual disability
6304	SATB1	HP:0001260	Dysarthria
6304	SATB1	HP:0001263	Global developmental delay
6304	SATB1	HP:0001257	Spasticity
6304	SATB1	HP:0007359	Focal-onset seizure
6304	SATB1	HP:0002540	Inability to walk
6304	SATB1	HP:0002521	Hypsarrhythmia
6304	SATB1	HP:0025336	Delayed ability to sit
6304	SATB1	HP:0001382	Joint hypermobility
6304	SATB1	HP:0000010	Recurrent urinary tract infections
6304	SATB1	HP:0001344	Absent speech
6304	SATB1	HP:0001337	Tremor
6304	SATB1	HP:0000006	Autosomal dominant inheritance
6304	SATB1	HP:0001336	Myoclonus
6304	SATB1	HP:0002650	Scoliosis
6304	SATB1	HP:0012171	Stereotypical hand wringing
6304	SATB1	HP:0008936	Axial hypotonia
6304	SATB1	HP:0006297	Enamel hypoplasia
6304	SATB1	HP:0006286	Yellow-brown discoloration of the teeth
6304	SATB1	HP:0002783	Recurrent lower respiratory tract infections
6304	SATB1	HP:0002020	Gastroesophageal reflux
6304	SATB1	HP:0002019	Constipation
6304	SATB1	HP:0004691	2-3 toe syndactyly
6304	SATB1	HP:0002015	Dysphagia
6304	SATB1	HP:0011800	Midface retrusion
6304	SATB1	HP:0002061	Lower limb spasticity
6304	SATB1	HP:0002121	Generalized non-motor (absence) seizure
6304	SATB1	HP:0002119	Ventriculomegaly
6304	SATB1	HP:0002133	Status epilepticus
6304	SATB1	HP:0004789	Lactose intolerance
6304	SATB1	HP:0002283	Global brain atrophy
6304	SATB1	HP:0002360	Sleep disturbance
6304	SATB1	HP:0002376	Developmental regression
6304	SATB1	HP:0002353	EEG abnormality
6304	SATB1	HP:0010841	Multifocal epileptiform discharges
6304	SATB1	HP:0010818	Generalized tonic seizure
6304	SATB1	HP:0200055	Small hand
6304	SATB1	HP:0002307	Drooling
6304	SATB1	HP:0006834	Developmental stagnation at onset of seizures
6304	SATB1	HP:0000684	Delayed eruption of teeth
6304	SATB1	HP:0000687	Widely spaced teeth
6304	SATB1	HP:0000670	Carious teeth
6304	SATB1	HP:0004325	Decreased body weight
6304	SATB1	HP:0031951	Nocturnal seizures
6304	SATB1	HP:0006986	Upper limb spasticity
6304	SATB1	HP:0006956	Lateral ventricle dilatation
6304	SATB1	HP:0031936	Delayed ability to walk
6304	SATB1	HP:0011412	Ventouse delivery
6304	SATB1	HP:0011410	Caesarian section
6304	SATB1	HP:0000736	Short attention span
6304	SATB1	HP:0000750	Delayed speech and language development
6304	SATB1	HP:0000717	Autism
6304	SATB1	HP:0000713	Agitation
6304	SATB1	HP:0000705	Amelogenesis imperfecta
6304	SATB1	HP:0011421	Death in adolescence
6304	SATB1	HP:0000958	Dry skin
6304	SATB1	HP:0000252	Microcephaly
6304	SATB1	HP:0000248	Brachycephaly
6304	SATB1	HP:0001562	Oligohydramnios
6304	SATB1	HP:0025502	Overweight
6304	SATB1	HP:0031355	Maintenance insomnia
6304	SATB1	HP:0001511	Intrauterine growth retardation
6304	SATB1	HP:0001513	Obesity
6304	SATB1	HP:0006482	Abnormality of dental morphology
6304	SATB1	HP:0000358	Posteriorly rotated ears
6304	SATB1	HP:0000349	Widow's peak
6304	SATB1	HP:0000348	High forehead
6304	SATB1	HP:0000319	Smooth philtrum
6304	SATB1	HP:0001629	Ventricular septal defect
6304	SATB1	HP:0001622	Premature birth
6304	SATB1	HP:0011197	EEG with focal spike waves
6304	SATB1	HP:0011169	Generalized clonic seizure
6304	SATB1	HP:0011166	Focal myoclonic seizure
6304	SATB1	HP:0000494	Downslanted palpebral fissures
6304	SATB1	HP:0001773	Short foot
6304	SATB1	HP:0005484	Secondary microcephaly
6304	SATB1	HP:0001852	Sandal gap
6304	SATB1	HP:0000504	Abnormality of vision
6304	SATB1	HP:0000574	Thick eyebrow
6304	SATB1	HP:0000540	Hypermetropia
6305	SBF1	HP:0001159	Syndactyly
6305	SBF1	HP:0001288	Gait disturbance
6305	SBF1	HP:0001284	Areflexia
6305	SBF1	HP:0001249	Intellectual disability
6305	SBF1	HP:0007340	Lower limb muscle weakness
6305	SBF1	HP:0002505	Loss of ambulation
6305	SBF1	HP:0000020	Urinary incontinence
6305	SBF1	HP:0000007	Autosomal recessive inheritance
6305	SBF1	HP:0002650	Scoliosis
6305	SBF1	HP:0003383	Onion bulb formation
6305	SBF1	HP:0003484	Upper limb muscle weakness
6305	SBF1	HP:0010546	Muscle fibrillation
6305	SBF1	HP:0003676	Progressive
6305	SBF1	HP:0003621	Juvenile onset
6305	SBF1	HP:0000602	Ophthalmoplegia
6305	SBF1	HP:0009053	Distal lower limb muscle weakness
6305	SBF1	HP:0004336	Myelin outfoldings
6305	SBF1	HP:0000762	Decreased nerve conduction velocity
6305	SBF1	HP:0003202	Skeletal muscle atrophy
6305	SBF1	HP:0000252	Microcephaly
6305	SBF1	HP:0002936	Distal sensory impairment
6305	SBF1	HP:0000486	Strabismus
6305	SBF1	HP:0012444	Brain atrophy
6305	SBF1	HP:0001763	Pes planus
6307	MSMO1	HP:0003765	Psoriasiform dermatitis
6307	MSMO1	HP:0001256	Intellectual disability, mild
6307	MSMO1	HP:0001263	Global developmental delay
6307	MSMO1	HP:0000007	Autosomal recessive inheritance
6307	MSMO1	HP:0002750	Delayed skeletal maturation
6307	MSMO1	HP:0003563	Decreased LDL cholesterol concentration
6307	MSMO1	HP:0004322	Short stature
6307	MSMO1	HP:0011463	Childhood onset
6307	MSMO1	HP:0003146	Hypocholesterolemia
6307	MSMO1	HP:0000823	Delayed puberty
6307	MSMO1	HP:0003233	Decreased HDL cholesterol concentration
6307	MSMO1	HP:0008064	Ichthyosis
6307	MSMO1	HP:0002829	Arthralgia
6307	MSMO1	HP:0000252	Microcephaly
6307	MSMO1	HP:0001508	Failure to thrive
6307	MSMO1	HP:0000498	Blepharitis
6307	MSMO1	HP:0000519	Developmental cataract
6309	SC5D	HP:0001162	Postaxial hand polydactyly
6309	SC5D	HP:0002475	Myelomeningocele
6309	SC5D	HP:0002435	Meningocele
6309	SC5D	HP:0001290	Generalized hypotonia
6309	SC5D	HP:0001250	Seizure
6309	SC5D	HP:0001252	Hypotonia
6309	SC5D	HP:0001249	Intellectual disability
6309	SC5D	HP:0001263	Global developmental delay
6309	SC5D	HP:0008736	Hypoplasia of penis
6309	SC5D	HP:0002514	Cerebral calcification
6309	SC5D	HP:0000085	Horseshoe kidney
6309	SC5D	HP:0001399	Hepatic failure
6309	SC5D	HP:0000033	Ambiguous genitalia, male
6309	SC5D	HP:0001328	Specific learning disability
6309	SC5D	HP:0000007	Autosomal recessive inheritance
6309	SC5D	HP:0001336	Myoclonus
6309	SC5D	HP:0002756	Pathologic fracture
6309	SC5D	HP:0001433	Hepatosplenomegaly
6309	SC5D	HP:0001406	Intrahepatic cholestasis
6309	SC5D	HP:0002714	Downturned corners of mouth
6309	SC5D	HP:0003316	Butterfly vertebrae
6309	SC5D	HP:0002059	Cerebral atrophy
6309	SC5D	HP:0011877	Increased mean platelet volume
6309	SC5D	HP:0011875	Abnormal platelet morphology
6309	SC5D	HP:0008278	Cerebellar cortical atrophy
6309	SC5D	HP:0002240	Hepatomegaly
6309	SC5D	HP:0100711	Abnormal thoracic spine morphology
6309	SC5D	HP:0200133	Lumbosacral meningocele
6309	SC5D	HP:0004823	Anisopoikilocytosis
6309	SC5D	HP:0002308	Chiari malformation
6309	SC5D	HP:0003609	Foam cells with lamellar inclusion bodies
6309	SC5D	HP:0001981	Schistocytosis
6309	SC5D	HP:0001927	Acanthocytosis
6309	SC5D	HP:0005608	Bilobate gallbladder
6309	SC5D	HP:0003107	Abnormal circulating cholesterol concentration
6309	SC5D	HP:0004422	Biparietal narrowing
6309	SC5D	HP:0003196	Short nose
6309	SC5D	HP:0003155	Elevated circulating alkaline phosphatase concentration
6309	SC5D	HP:0000939	Osteoporosis
6309	SC5D	HP:0000286	Epicanthus
6309	SC5D	HP:0000293	Full cheeks
6309	SC5D	HP:0007759	Opacification of the corneal stroma
6309	SC5D	HP:0000252	Microcephaly
6309	SC5D	HP:0000218	High palate
6309	SC5D	HP:0000212	Gingival overgrowth
6309	SC5D	HP:0000215	Thick upper lip vermilion
6309	SC5D	HP:0000233	Thin vermilion border
6309	SC5D	HP:0001508	Failure to thrive
6309	SC5D	HP:0001511	Intrauterine growth retardation
6309	SC5D	HP:0001510	Growth delay
6309	SC5D	HP:0002910	Elevated hepatic transaminase
6309	SC5D	HP:0002904	Hyperbilirubinemia
6309	SC5D	HP:0000365	Hearing impairment
6309	SC5D	HP:0000341	Narrow forehead
6309	SC5D	HP:0000340	Sloping forehead
6309	SC5D	HP:0000343	Long philtrum
6309	SC5D	HP:0000347	Micrognathia
6309	SC5D	HP:0000405	Conductive hearing impairment
6309	SC5D	HP:0000482	Microcornea
6309	SC5D	HP:0000494	Downslanted palpebral fissures
6309	SC5D	HP:0000463	Anteverted nares
6309	SC5D	HP:0001770	Toe syndactyly
6309	SC5D	HP:0000414	Bulbous nose
6309	SC5D	HP:0001762	Talipes equinovarus
6309	SC5D	HP:0000431	Wide nasal bridge
6309	SC5D	HP:0005487	Prominent metopic ridge
6309	SC5D	HP:0000518	Cataract
6309	SC5D	HP:0000508	Ptosis
6309	SC5D	HP:0001830	Postaxial foot polydactyly
6309	SC5D	HP:0001883	Talipes
6309	SC5D	HP:0001873	Thrombocytopenia
6310	ATXN1	HP:0001151	Impaired horizontal smooth pursuit
6310	ATXN1	HP:0002483	Bulbar signs
6310	ATXN1	HP:0002495	Impaired vibratory sensation
6310	ATXN1	HP:0002460	Distal muscle weakness
6310	ATXN1	HP:0007328	Impaired pain sensation
6310	ATXN1	HP:0007263	Spinocerebellar atrophy
6310	ATXN1	HP:0003744	Genetic anticipation with paternal anticipation bias
6310	ATXN1	HP:0003701	Proximal muscle weakness
6310	ATXN1	HP:0001290	Generalized hypotonia
6310	ATXN1	HP:0001272	Cerebellar atrophy
6310	ATXN1	HP:0001288	Gait disturbance
6310	ATXN1	HP:0001283	Bulbar palsy
6310	ATXN1	HP:0001284	Areflexia
6310	ATXN1	HP:0001252	Hypotonia
6310	ATXN1	HP:0001265	Hyporeflexia
6310	ATXN1	HP:0001260	Dysarthria
6310	ATXN1	HP:0001257	Spasticity
6310	ATXN1	HP:0007377	Abnormality of somatosensory evoked potentials
6310	ATXN1	HP:0007366	Atrophy/Degeneration affecting the brainstem
6310	ATXN1	HP:0007338	Hypermetric saccades
6310	ATXN1	HP:0002542	Olivopontocerebellar atrophy
6310	ATXN1	HP:0002503	Spinocerebellar tract degeneration
6310	ATXN1	HP:0025331	Upgaze palsy
6310	ATXN1	HP:0001350	Slurred speech
6310	ATXN1	HP:0001347	Hyperreflexia
6310	ATXN1	HP:0410011	Abnormality of masticatory muscle
6310	ATXN1	HP:0001332	Dystonia
6310	ATXN1	HP:0001324	Muscle weakness
6310	ATXN1	HP:0000006	Autosomal dominant inheritance
6310	ATXN1	HP:0001310	Dysmetria
6310	ATXN1	HP:0025401	Staring gaze
6310	ATXN1	HP:0002015	Dysphagia
6310	ATXN1	HP:0100543	Cognitive impairment
6310	ATXN1	HP:0002067	Bradykinesia
6310	ATXN1	HP:0003394	Muscle spasm
6310	ATXN1	HP:0002078	Truncal ataxia
6310	ATXN1	HP:0002075	Dysdiadochokinesis
6310	ATXN1	HP:0002072	Chorea
6310	ATXN1	HP:0002073	Progressive cerebellar ataxia
6310	ATXN1	HP:0002070	Limb ataxia
6310	ATXN1	HP:0002071	Abnormality of extrapyramidal motor function
6310	ATXN1	HP:0002141	Gait imbalance
6310	ATXN1	HP:0003487	Babinski sign
6310	ATXN1	HP:0003448	Decreased sensory nerve conduction velocity
6310	ATXN1	HP:0003431	Decreased motor nerve conduction velocity
6310	ATXN1	HP:0002198	Dilated fourth ventricle
6310	ATXN1	HP:0002168	Scanning speech
6310	ATXN1	HP:0002174	Postural tremor
6310	ATXN1	HP:0003401	Paresthesia
6310	ATXN1	HP:0003581	Adult onset
6310	ATXN1	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
6310	ATXN1	HP:0007006	Dorsal column degeneration
6310	ATXN1	HP:0007078	Decreased amplitude of sensory action potentials
6310	ATXN1	HP:0002380	Fasciculations
6310	ATXN1	HP:0003693	Distal amyotrophy
6310	ATXN1	HP:0002363	Abnormal brainstem morphology
6310	ATXN1	HP:0002354	Memory impairment
6310	ATXN1	HP:0010831	Impaired proprioception
6310	ATXN1	HP:0009830	Peripheral neuropathy
6310	ATXN1	HP:0006801	Hyperactive deep tendon reflexes
6310	ATXN1	HP:0000640	Gaze-evoked nystagmus
6310	ATXN1	HP:0000639	Nystagmus
6310	ATXN1	HP:0000648	Optic atrophy
6310	ATXN1	HP:0000641	Dysmetric saccades
6310	ATXN1	HP:0000623	Supranuclear ophthalmoplegia
6310	ATXN1	HP:0006937	Impaired distal tactile sensation
6310	ATXN1	HP:0040129	Abnormal nerve conduction velocity
6310	ATXN1	HP:0003202	Skeletal muscle atrophy
6310	ATXN1	HP:0002878	Respiratory failure
6310	ATXN1	HP:0002839	Urinary bladder sphincter dysfunction
6310	ATXN1	HP:0007928	Abnormal flash visual evoked potentials
6310	ATXN1	HP:0030216	Inertia
6310	ATXN1	HP:0000496	Abnormality of eye movement
6310	ATXN1	HP:0000514	Slow saccadic eye movements
6310	ATXN1	HP:0000597	Ophthalmoparesis
6310	ATXN1	HP:0000543	Optic disc pallor
6311	ATXN2	HP:0001151	Impaired horizontal smooth pursuit
6311	ATXN2	HP:0002495	Impaired vibratory sensation
6311	ATXN2	HP:0007311	Short stepped shuffling gait
6311	ATXN2	HP:0003745	Sporadic
6311	ATXN2	HP:0003743	Genetic anticipation
6311	ATXN2	HP:0001290	Generalized hypotonia
6311	ATXN2	HP:0001272	Cerebellar atrophy
6311	ATXN2	HP:0001252	Hypotonia
6311	ATXN2	HP:0001251	Ataxia
6311	ATXN2	HP:0001265	Hyporeflexia
6311	ATXN2	HP:0001260	Dysarthria
6311	ATXN2	HP:0001257	Spasticity
6311	ATXN2	HP:0007373	Motor neuron atrophy
6311	ATXN2	HP:0007354	Amyotrophic lateral sclerosis
6311	ATXN2	HP:0002542	Olivopontocerebellar atrophy
6311	ATXN2	HP:0002536	Abnormal cortical gyration
6311	ATXN2	HP:0002529	Neuronal loss in central nervous system
6311	ATXN2	HP:0002503	Spinocerebellar tract degeneration
6311	ATXN2	HP:0000020	Urinary incontinence
6311	ATXN2	HP:0012082	Cerebellar Purkinje layer atrophy
6311	ATXN2	HP:0001332	Dystonia
6311	ATXN2	HP:0000012	Urinary urgency
6311	ATXN2	HP:0001337	Tremor
6311	ATXN2	HP:0000006	Autosomal dominant inheritance
6311	ATXN2	HP:0001336	Myoclonus
6311	ATXN2	HP:0001310	Dysmetria
6311	ATXN2	HP:0001300	Parkinsonism
6311	ATXN2	HP:0025461	Abnormal cell morphology
6311	ATXN2	HP:0025425	Laryngospasm
6311	ATXN2	HP:0002795	Abnormal respiratory system physiology
6311	ATXN2	HP:0002019	Constipation
6311	ATXN2	HP:0002017	Nausea and vomiting
6311	ATXN2	HP:0002015	Dysphagia
6311	ATXN2	HP:0003324	Generalized muscle weakness
6311	ATXN2	HP:0002094	Dyspnea
6311	ATXN2	HP:0002067	Bradykinesia
6311	ATXN2	HP:0002066	Gait ataxia
6311	ATXN2	HP:0003394	Muscle spasm
6311	ATXN2	HP:0002063	Rigidity
6311	ATXN2	HP:0002075	Dysdiadochokinesis
6311	ATXN2	HP:0002072	Chorea
6311	ATXN2	HP:0002073	Progressive cerebellar ataxia
6311	ATXN2	HP:0002070	Limb ataxia
6311	ATXN2	HP:0003470	Paralysis
6311	ATXN2	HP:0003487	Babinski sign
6311	ATXN2	HP:0002120	Cerebral cortical atrophy
6311	ATXN2	HP:0002180	Neurodegeneration
6311	ATXN2	HP:0002198	Dilated fourth ventricle
6311	ATXN2	HP:0002174	Postural tremor
6311	ATXN2	HP:0002172	Postural instability
6311	ATXN2	HP:0003587	Insidious onset
6311	ATXN2	HP:0003584	Late onset
6311	ATXN2	HP:0003581	Adult onset
6311	ATXN2	HP:0011960	Substantia nigra gliosis
6311	ATXN2	HP:0008311	Spinal cord posterior columns myelin loss
6311	ATXN2	HP:0002380	Fasciculations
6311	ATXN2	HP:0003693	Distal amyotrophy
6311	ATXN2	HP:0002360	Sleep disturbance
6311	ATXN2	HP:0002345	Action tremor
6311	ATXN2	HP:0003676	Progressive
6311	ATXN2	HP:0002322	Resting tremor
6311	ATXN2	HP:0002317	Unsteady gait
6311	ATXN2	HP:0006801	Hyperactive deep tendon reflexes
6311	ATXN2	HP:0000640	Gaze-evoked nystagmus
6311	ATXN2	HP:0000639	Nystagmus
6311	ATXN2	HP:0000641	Dysmetric saccades
6311	ATXN2	HP:0000623	Supranuclear ophthalmoplegia
6311	ATXN2	HP:0000602	Ophthalmoplegia
6311	ATXN2	HP:0000657	Oculomotor apraxia
6311	ATXN2	HP:0006955	Olivopontocerebellar hypoplasia
6311	ATXN2	HP:0031908	Micrographia
6311	ATXN2	HP:0000751	Personality changes
6311	ATXN2	HP:0000738	Hallucinations
6311	ATXN2	HP:0000739	Anxiety
6311	ATXN2	HP:0000716	Depression
6311	ATXN2	HP:0000712	Emotional lability
6311	ATXN2	HP:0000713	Agitation
6311	ATXN2	HP:0000726	Dementia
6311	ATXN2	HP:0011462	Young adult onset
6311	ATXN2	HP:0012762	Cerebral white matter atrophy
6311	ATXN2	HP:0100315	Lewy bodies
6311	ATXN2	HP:0003133	Abnormality of the spinocerebellar tracts
6311	ATXN2	HP:0003202	Skeletal muscle atrophy
6311	ATXN2	HP:0045007	Abnormal substantia nigra morphology
6311	ATXN2	HP:0000298	Mask-like facies
6311	ATXN2	HP:0000217	Xerostomia
6311	ATXN2	HP:0002878	Respiratory failure
6311	ATXN2	HP:0002839	Urinary bladder sphincter dysfunction
6311	ATXN2	HP:0012378	Fatigue
6311	ATXN2	HP:0030186	Kinetic tremor
6311	ATXN2	HP:0030196	Fatigable weakness of respiratory muscles
6311	ATXN2	HP:0030195	Fatigable weakness of swallowing muscles
6311	ATXN2	HP:0030192	Fatigable weakness of bulbar muscles
6311	ATXN2	HP:0012332	Abnormal autonomic nervous system physiology
6311	ATXN2	HP:0001621	Weak voice
6311	ATXN2	HP:0000514	Slow saccadic eye movements
6311	ATXN2	HP:0000510	Rod-cone dystrophy
6311	ATXN2	HP:0000597	Ophthalmoparesis
6311	ATXN2	HP:0012531	Pain
6314	ATXN7	HP:0003744	Genetic anticipation with paternal anticipation bias
6314	ATXN7	HP:0001272	Cerebellar atrophy
6314	ATXN7	HP:0001270	Motor delay
6314	ATXN7	HP:0001268	Mental deterioration
6314	ATXN7	HP:0001251	Ataxia
6314	ATXN7	HP:0001260	Dysarthria
6314	ATXN7	HP:0001263	Global developmental delay
6314	ATXN7	HP:0001257	Spasticity
6314	ATXN7	HP:0002542	Olivopontocerebellar atrophy
6314	ATXN7	HP:0012047	Hemeralopia
6314	ATXN7	HP:0001347	Hyperreflexia
6314	ATXN7	HP:0001324	Muscle weakness
6314	ATXN7	HP:0001337	Tremor
6314	ATXN7	HP:0000006	Autosomal dominant inheritance
6314	ATXN7	HP:0001310	Dysmetria
6314	ATXN7	HP:0001319	Neonatal hypotonia
6314	ATXN7	HP:0007663	Reduced visual acuity
6314	ATXN7	HP:0002015	Dysphagia
6314	ATXN7	HP:0002075	Dysdiadochokinesis
6314	ATXN7	HP:0002072	Chorea
6314	ATXN7	HP:0002073	Progressive cerebellar ataxia
6314	ATXN7	HP:0002071	Abnormality of extrapyramidal motor function
6314	ATXN7	HP:0002059	Cerebral atrophy
6314	ATXN7	HP:0003474	Somatic sensory dysfunction
6314	ATXN7	HP:0003487	Babinski sign
6314	ATXN7	HP:0011968	Feeding difficulties
6314	ATXN7	HP:0001098	Abnormal fundus morphology
6314	ATXN7	HP:0002310	Orofacial dyskinesia
6314	ATXN7	HP:0000639	Nystagmus
6314	ATXN7	HP:0000648	Optic atrophy
6314	ATXN7	HP:0000618	Blindness
6314	ATXN7	HP:0000613	Photophobia
6314	ATXN7	HP:0000623	Supranuclear ophthalmoplegia
6314	ATXN7	HP:0000608	Macular degeneration
6314	ATXN7	HP:0000602	Ophthalmoplegia
6314	ATXN7	HP:0000709	Psychosis
6314	ATXN7	HP:0001508	Failure to thrive
6314	ATXN7	HP:0001635	Congestive heart failure
6314	ATXN7	HP:0012452	Restless legs
6314	ATXN7	HP:0000514	Slow saccadic eye movements
6314	ATXN7	HP:0000529	Progressive visual loss
6314	ATXN7	HP:0000597	Ophthalmoparesis
6314	ATXN7	HP:0000580	Pigmentary retinopathy
6314	ATXN7	HP:0000572	Visual loss
6314	ATXN7	HP:0000548	Cone/cone-rod dystrophy
6315	ATXN8OS	HP:0002495	Impaired vibratory sensation
6315	ATXN8OS	HP:0002464	Spastic dysarthria
6315	ATXN8OS	HP:0007311	Short stepped shuffling gait
6315	ATXN8OS	HP:0007256	Abnormal pyramidal sign
6315	ATXN8OS	HP:0003745	Sporadic
6315	ATXN8OS	HP:0001272	Cerebellar atrophy
6315	ATXN8OS	HP:0001251	Ataxia
6315	ATXN8OS	HP:0001260	Dysarthria
6315	ATXN8OS	HP:0001257	Spasticity
6315	ATXN8OS	HP:0002529	Neuronal loss in central nervous system
6315	ATXN8OS	HP:0000020	Urinary incontinence
6315	ATXN8OS	HP:0001347	Hyperreflexia
6315	ATXN8OS	HP:0001332	Dystonia
6315	ATXN8OS	HP:0000012	Urinary urgency
6315	ATXN8OS	HP:0001337	Tremor
6315	ATXN8OS	HP:0000006	Autosomal dominant inheritance
6315	ATXN8OS	HP:0001300	Parkinsonism
6315	ATXN8OS	HP:0012110	Hypoplasia of the pons
6315	ATXN8OS	HP:0002019	Constipation
6315	ATXN8OS	HP:0002015	Dysphagia
6315	ATXN8OS	HP:0002067	Bradykinesia
6315	ATXN8OS	HP:0002066	Gait ataxia
6315	ATXN8OS	HP:0002063	Rigidity
6315	ATXN8OS	HP:0002062	Morphological abnormality of the pyramidal tract
6315	ATXN8OS	HP:0002073	Progressive cerebellar ataxia
6315	ATXN8OS	HP:0002070	Limb ataxia
6315	ATXN8OS	HP:0002172	Postural instability
6315	ATXN8OS	HP:0003587	Insidious onset
6315	ATXN8OS	HP:0003584	Late onset
6315	ATXN8OS	HP:0003581	Adult onset
6315	ATXN8OS	HP:0011960	Substantia nigra gliosis
6315	ATXN8OS	HP:0002360	Sleep disturbance
6315	ATXN8OS	HP:0003676	Progressive
6315	ATXN8OS	HP:0002322	Resting tremor
6315	ATXN8OS	HP:0002317	Unsteady gait
6315	ATXN8OS	HP:0009830	Peripheral neuropathy
6315	ATXN8OS	HP:0002311	Incoordination
6315	ATXN8OS	HP:0006855	Cerebellar vermis atrophy
6315	ATXN8OS	HP:0000639	Nystagmus
6315	ATXN8OS	HP:0000641	Dysmetric saccades
6315	ATXN8OS	HP:0000802	Impotence
6315	ATXN8OS	HP:0031908	Micrographia
6315	ATXN8OS	HP:0000751	Personality changes
6315	ATXN8OS	HP:0000763	Sensory neuropathy
6315	ATXN8OS	HP:0000738	Hallucinations
6315	ATXN8OS	HP:0000716	Depression
6315	ATXN8OS	HP:0000726	Dementia
6315	ATXN8OS	HP:0100315	Lewy bodies
6315	ATXN8OS	HP:0000298	Mask-like facies
6315	ATXN8OS	HP:0000273	Facial grimacing
6315	ATXN8OS	HP:0007772	Impaired smooth pursuit
6315	ATXN8OS	HP:0002835	Aspiration
6315	ATXN8OS	HP:0012332	Abnormal autonomic nervous system physiology
6315	ATXN8OS	HP:0001621	Weak voice
6315	ATXN8OS	HP:0000514	Slow saccadic eye movements
6323	SCN1A	HP:0002487	Hyperkinetic movements
6323	SCN1A	HP:0001159	Syndactyly
6323	SCN1A	HP:0025101	Dysgenesis of the hippocampus
6323	SCN1A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
6323	SCN1A	HP:0009928	Thick nasal alae
6323	SCN1A	HP:0007270	Atypical absence seizure
6323	SCN1A	HP:0007256	Abnormal pyramidal sign
6323	SCN1A	HP:0020216	Visually-induced seizure
6323	SCN1A	HP:0007240	Progressive gait ataxia
6323	SCN1A	HP:0010864	Intellectual disability, severe
6323	SCN1A	HP:0007209	Facial paralysis
6323	SCN1A	HP:0010850	EEG with spike-wave complexes
6323	SCN1A	HP:0001298	Encephalopathy
6323	SCN1A	HP:0001272	Cerebellar atrophy
6323	SCN1A	HP:0001270	Motor delay
6323	SCN1A	HP:0001269	Hemiparesis
6323	SCN1A	HP:0001268	Mental deterioration
6323	SCN1A	HP:0001289	Confusion
6323	SCN1A	HP:0001250	Seizure
6323	SCN1A	HP:0001252	Hypotonia
6323	SCN1A	HP:0001251	Ataxia
6323	SCN1A	HP:0001249	Intellectual disability
6323	SCN1A	HP:0001266	Choreoathetosis
6323	SCN1A	HP:0001260	Dysarthria
6323	SCN1A	HP:0001263	Global developmental delay
6323	SCN1A	HP:0001259	Coma
6323	SCN1A	HP:0008770	Obsessive-compulsive trait
6323	SCN1A	HP:0410263	Brain imaging abnormality
6323	SCN1A	HP:0100851	Abnormal emotion/affect behavior
6323	SCN1A	HP:0007359	Focal-onset seizure
6323	SCN1A	HP:0002540	Inability to walk
6323	SCN1A	HP:0002539	Cortical dysplasia
6323	SCN1A	HP:0002527	Falls
6323	SCN1A	HP:0003828	Variable expressivity
6323	SCN1A	HP:0012075	Personality disorder
6323	SCN1A	HP:0012044	Seesaw nystagmus
6323	SCN1A	HP:0001348	Brisk reflexes
6323	SCN1A	HP:0032506	Alien limb phenomenon
6323	SCN1A	HP:0031179	Nuchal rigidity
6323	SCN1A	HP:0001332	Dystonia
6323	SCN1A	HP:0001327	Photosensitive myoclonic seizure
6323	SCN1A	HP:0001324	Muscle weakness
6323	SCN1A	HP:0001326	EEG with irregular generalized spike and wave complexes
6323	SCN1A	HP:0001344	Absent speech
6323	SCN1A	HP:0001337	Tremor
6323	SCN1A	HP:0000006	Autosomal dominant inheritance
6323	SCN1A	HP:0001336	Myoclonus
6323	SCN1A	HP:0001308	Tongue fasciculations
6323	SCN1A	HP:0002650	Scoliosis
6323	SCN1A	HP:0001300	Parkinsonism
6323	SCN1A	HP:0000179	Thick lower lip vermilion
6323	SCN1A	HP:0000160	Narrow mouth
6323	SCN1A	HP:0000154	Wide mouth
6323	SCN1A	HP:0008959	Distal upper limb muscle weakness
6323	SCN1A	HP:0008947	Infantile muscular hypotonia
6323	SCN1A	HP:0008936	Axial hypotonia
6323	SCN1A	HP:0004684	Talipes valgus
6323	SCN1A	HP:0100543	Cognitive impairment
6323	SCN1A	HP:0002069	Bilateral tonic-clonic seizure
6323	SCN1A	HP:0002067	Bradykinesia
6323	SCN1A	HP:0002063	Rigidity
6323	SCN1A	HP:0003392	First dorsal interossei muscle weakness
6323	SCN1A	HP:0002077	Migraine with aura
6323	SCN1A	HP:0002072	Chorea
6323	SCN1A	HP:0002059	Cerebral atrophy
6323	SCN1A	HP:0100576	Amaurosis fugax
6323	SCN1A	HP:0002123	Generalized myoclonic seizure
6323	SCN1A	HP:0002121	Generalized non-motor (absence) seizure
6323	SCN1A	HP:0002133	Status epilepticus
6323	SCN1A	HP:0002187	Intellectual disability, profound
6323	SCN1A	HP:0002183	Phonophobia
6323	SCN1A	HP:0002181	Cerebral edema
6323	SCN1A	HP:0002197	Generalized-onset seizure
6323	SCN1A	HP:0002167	Abnormality of speech or vocalization
6323	SCN1A	HP:0002172	Postural instability
6323	SCN1A	HP:0010544	Vertical nystagmus
6323	SCN1A	HP:0010533	Spasmus nutans
6323	SCN1A	HP:0033258	Sudden unexpected death in epilepsy
6323	SCN1A	HP:0003401	Paresthesia
6323	SCN1A	HP:0003593	Infantile onset
6323	SCN1A	HP:0100704	Cerebral visual impairment
6323	SCN1A	HP:0100702	Arachnoid cyst
6323	SCN1A	HP:0100710	Impulsivity
6323	SCN1A	HP:0200149	CSF lymphocytic pleiocytosis
6323	SCN1A	HP:0200134	Epileptic encephalopathy
6323	SCN1A	HP:0002283	Global brain atrophy
6323	SCN1A	HP:0002292	Frontal balding
6323	SCN1A	HP:0007010	Poor fine motor coordination
6323	SCN1A	HP:0007018	Attention deficit hyperactivity disorder
6323	SCN1A	HP:0032044	Decreased vigilance
6323	SCN1A	HP:0007058	Generalized cerebral atrophy/hypoplasia
6323	SCN1A	HP:0002384	Focal impaired awareness seizure
6323	SCN1A	HP:0002381	Aphasia
6323	SCN1A	HP:0002396	Cogwheel rigidity
6323	SCN1A	HP:0002392	EEG with polyspike wave complexes
6323	SCN1A	HP:0002363	Abnormal brainstem morphology
6323	SCN1A	HP:0002376	Developmental regression
6323	SCN1A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6323	SCN1A	HP:0002345	Action tremor
6323	SCN1A	HP:0002342	Intellectual disability, moderate
6323	SCN1A	HP:0002353	EEG abnormality
6323	SCN1A	HP:0002349	Focal aware seizure
6323	SCN1A	HP:0002321	Vertigo
6323	SCN1A	HP:0002317	Unsteady gait
6323	SCN1A	HP:0002332	Lack of peer relationships
6323	SCN1A	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
6323	SCN1A	HP:0010841	Multifocal epileptiform discharges
6323	SCN1A	HP:0010845	EEG with generalized slow activity
6323	SCN1A	HP:0007207	Photosensitive tonic-clonic seizure
6323	SCN1A	HP:0010835	Dissociated sensory loss
6323	SCN1A	HP:0010833	Spontaneous pain sensation
6323	SCN1A	HP:0010829	Impaired temperature sensation
6323	SCN1A	HP:0010819	Atonic seizure
6323	SCN1A	HP:0010818	Generalized tonic seizure
6323	SCN1A	HP:0100678	Premature skin wrinkling
6323	SCN1A	HP:0200048	Cyanotic episode
6323	SCN1A	HP:0100694	Tibial torsion
6323	SCN1A	HP:0002301	Hemiplegia
6323	SCN1A	HP:0002311	Incoordination
6323	SCN1A	HP:0002307	Drooling
6323	SCN1A	HP:0003621	Juvenile onset
6323	SCN1A	HP:0006813	Focal hemiclonic seizure
6323	SCN1A	HP:0000639	Nystagmus
6323	SCN1A	HP:0000651	Diplopia
6323	SCN1A	HP:0000618	Blindness
6323	SCN1A	HP:0000613	Photophobia
6323	SCN1A	HP:0001999	Abnormal facial shape
6323	SCN1A	HP:0004305	Involuntary movements
6323	SCN1A	HP:0003066	Limited knee extension
6323	SCN1A	HP:0000752	Hyperactivity
6323	SCN1A	HP:0000739	Anxiety
6323	SCN1A	HP:0000736	Short attention span
6323	SCN1A	HP:0000735	Impaired social interactions
6323	SCN1A	HP:0000750	Delayed speech and language development
6323	SCN1A	HP:0000718	Aggressive behavior
6323	SCN1A	HP:0000729	Autistic behavior
6323	SCN1A	HP:0000708	Atypical behavior
6323	SCN1A	HP:0011468	Facial tics
6323	SCN1A	HP:0011471	Gastrostomy tube feeding in infancy
6323	SCN1A	HP:0011463	Childhood onset
6323	SCN1A	HP:0011462	Young adult onset
6323	SCN1A	HP:0030786	Photopsia
6323	SCN1A	HP:0012847	Epilepsia partialis continua
6323	SCN1A	HP:0000980	Pallor
6323	SCN1A	HP:0008081	Pes valgus
6323	SCN1A	HP:0000289	Broad philtrum
6323	SCN1A	HP:0012229	CSF pleocytosis
6323	SCN1A	HP:0000252	Microcephaly
6323	SCN1A	HP:0000219	Thin upper lip vermilion
6323	SCN1A	HP:0025517	Hypoplastic hippocampus
6323	SCN1A	HP:0011097	Epileptic spasm
6323	SCN1A	HP:0002922	Increased CSF protein concentration
6323	SCN1A	HP:0000365	Hearing impairment
6323	SCN1A	HP:0000360	Tinnitus
6323	SCN1A	HP:0000343	Long philtrum
6323	SCN1A	HP:0032792	Tonic seizure
6323	SCN1A	HP:0000348	High forehead
6323	SCN1A	HP:0032794	Myoclonic seizure
6323	SCN1A	HP:0000316	Hypertelorism
6323	SCN1A	HP:0031475	Status epilepticus without prominent motor symptoms
6323	SCN1A	HP:0011196	EEG with focal sharp waves
6323	SCN1A	HP:0011195	EEG with focal sharp slow waves
6323	SCN1A	HP:0011199	EEG with generalized sharp slow waves
6323	SCN1A	HP:0011198	EEG with generalized epileptiform discharges
6323	SCN1A	HP:0011197	EEG with focal spike waves
6323	SCN1A	HP:0011185	EEG with focal epileptiform discharges
6323	SCN1A	HP:0011182	Interictal epileptiform activity
6323	SCN1A	HP:0011169	Generalized clonic seizure
6323	SCN1A	HP:0011172	Complex febrile seizure
6323	SCN1A	HP:0011171	Simple febrile seizure
6323	SCN1A	HP:0011170	Generalized myoclonic-atonic seizure
6323	SCN1A	HP:0011157	Focal sensory seizure
6323	SCN1A	HP:0011151	Atypical absence status epilepticus
6323	SCN1A	HP:0011150	Myoclonic absence seizure
6323	SCN1A	HP:0011153	Focal motor seizure
6323	SCN1A	HP:0007979	Gaze-evoked horizontal nystagmus
6323	SCN1A	HP:0000463	Anteverted nares
6323	SCN1A	HP:0000466	Limited neck range of motion
6323	SCN1A	HP:0001763	Pes planus
6323	SCN1A	HP:0000431	Wide nasal bridge
6323	SCN1A	HP:0005484	Secondary microcephaly
6323	SCN1A	HP:0012508	Metamorphopsia
6323	SCN1A	HP:0000575	Scotoma
6323	SCN1A	HP:0011220	Prominent forehead
6323	SCN1A	HP:0000568	Microphthalmia
6324	SCN1B	HP:0025101	Dysgenesis of the hippocampus
6324	SCN1B	HP:0007281	Developmental stagnation
6324	SCN1B	HP:0007270	Atypical absence seizure
6324	SCN1B	HP:0007256	Abnormal pyramidal sign
6324	SCN1B	HP:0007240	Progressive gait ataxia
6324	SCN1B	HP:0010851	EEG with burst suppression
6324	SCN1B	HP:0010850	EEG with spike-wave complexes
6324	SCN1B	HP:0002421	Poor head control
6324	SCN1B	HP:0001290	Generalized hypotonia
6324	SCN1B	HP:0001272	Cerebellar atrophy
6324	SCN1B	HP:0001279	Syncope
6324	SCN1B	HP:0001250	Seizure
6324	SCN1B	HP:0001252	Hypotonia
6324	SCN1B	HP:0001251	Ataxia
6324	SCN1B	HP:0001249	Intellectual disability
6324	SCN1B	HP:0001266	Choreoathetosis
6324	SCN1B	HP:0001263	Global developmental delay
6324	SCN1B	HP:0001257	Spasticity
6324	SCN1B	HP:0008770	Obsessive-compulsive trait
6324	SCN1B	HP:0007359	Focal-onset seizure
6324	SCN1B	HP:0002539	Cortical dysplasia
6324	SCN1B	HP:0002521	Hypsarrhythmia
6324	SCN1B	HP:0003829	Typified by incomplete penetrance
6324	SCN1B	HP:0002506	Diffuse cerebral atrophy
6324	SCN1B	HP:0003819	Death in childhood
6324	SCN1B	HP:0000070	Ureterocele
6324	SCN1B	HP:0000054	Micropenis
6324	SCN1B	HP:0001332	Dystonia
6324	SCN1B	HP:0001327	Photosensitive myoclonic seizure
6324	SCN1B	HP:0000007	Autosomal recessive inheritance
6324	SCN1B	HP:0001337	Tremor
6324	SCN1B	HP:0000006	Autosomal dominant inheritance
6324	SCN1B	HP:0001336	Myoclonus
6324	SCN1B	HP:0001302	Pachygyria
6324	SCN1B	HP:0001300	Parkinsonism
6324	SCN1B	HP:0000175	Cleft palate
6324	SCN1B	HP:0008947	Infantile muscular hypotonia
6324	SCN1B	HP:0031295	Left atrial enlargement
6324	SCN1B	HP:0000110	Renal dysplasia
6324	SCN1B	HP:0004684	Talipes valgus
6324	SCN1B	HP:0002027	Abdominal pain
6324	SCN1B	HP:0100543	Cognitive impairment
6324	SCN1B	HP:0002094	Dyspnea
6324	SCN1B	HP:0002069	Bilateral tonic-clonic seizure
6324	SCN1B	HP:0002067	Bradykinesia
6324	SCN1B	HP:0002063	Rigidity
6324	SCN1B	HP:0002079	Hypoplasia of the corpus callosum
6324	SCN1B	HP:0002070	Limb ataxia
6324	SCN1B	HP:0011715	Trifascicular block
6324	SCN1B	HP:0011712	Right bundle branch block
6324	SCN1B	HP:0011710	Bundle branch block
6324	SCN1B	HP:0011704	Sick sinus syndrome
6324	SCN1B	HP:0011705	First degree atrioventricular block
6324	SCN1B	HP:0002123	Generalized myoclonic seizure
6324	SCN1B	HP:0002121	Generalized non-motor (absence) seizure
6324	SCN1B	HP:0002133	Status epilepticus
6324	SCN1B	HP:0002131	Episodic ataxia
6324	SCN1B	HP:0004757	Paroxysmal atrial fibrillation
6324	SCN1B	HP:0004755	Supraventricular tachycardia
6324	SCN1B	HP:0004751	Paroxysmal ventricular tachycardia
6324	SCN1B	HP:0002197	Generalized-onset seizure
6324	SCN1B	HP:0003596	Middle age onset
6324	SCN1B	HP:0003593	Infantile onset
6324	SCN1B	HP:0100710	Impulsivity
6324	SCN1B	HP:0100716	Self-injurious behavior
6324	SCN1B	HP:0200134	Epileptic encephalopathy
6324	SCN1B	HP:0002283	Global brain atrophy
6324	SCN1B	HP:0007010	Poor fine motor coordination
6324	SCN1B	HP:0007058	Generalized cerebral atrophy/hypoplasia
6324	SCN1B	HP:0002384	Focal impaired awareness seizure
6324	SCN1B	HP:0002396	Cogwheel rigidity
6324	SCN1B	HP:0002360	Sleep disturbance
6324	SCN1B	HP:0002376	Developmental regression
6324	SCN1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6324	SCN1B	HP:0002345	Action tremor
6324	SCN1B	HP:0002353	EEG abnormality
6324	SCN1B	HP:0002349	Focal aware seizure
6324	SCN1B	HP:0002321	Vertigo
6324	SCN1B	HP:0010841	Multifocal epileptiform discharges
6324	SCN1B	HP:0007204	Diffuse white matter abnormalities
6324	SCN1B	HP:0007207	Photosensitive tonic-clonic seizure
6324	SCN1B	HP:0100660	Dyskinesia
6324	SCN1B	HP:0010819	Atonic seizure
6324	SCN1B	HP:0010818	Generalized tonic seizure
6324	SCN1B	HP:0200048	Cyanotic episode
6324	SCN1B	HP:0100694	Tibial torsion
6324	SCN1B	HP:0002311	Incoordination
6324	SCN1B	HP:0002307	Drooling
6324	SCN1B	HP:0006813	Focal hemiclonic seizure
6324	SCN1B	HP:0004308	Ventricular arrhythmia
6324	SCN1B	HP:0003066	Limited knee extension
6324	SCN1B	HP:0000752	Hyperactivity
6324	SCN1B	HP:0012722	Heart block
6324	SCN1B	HP:0000739	Anxiety
6324	SCN1B	HP:0000736	Short attention span
6324	SCN1B	HP:0000729	Autistic behavior
6324	SCN1B	HP:0010174	Broad phalanx of the toes
6324	SCN1B	HP:0011468	Facial tics
6324	SCN1B	HP:0012847	Epilepsia partialis continua
6324	SCN1B	HP:0000826	Precocious puberty
6324	SCN1B	HP:0000980	Pallor
6324	SCN1B	HP:0008081	Pes valgus
6324	SCN1B	HP:0009381	Short finger
6324	SCN1B	HP:0011675	Arrhythmia
6324	SCN1B	HP:0012251	ST segment elevation
6324	SCN1B	HP:0000252	Microcephaly
6324	SCN1B	HP:0001537	Umbilical hernia
6324	SCN1B	HP:0001508	Failure to thrive
6324	SCN1B	HP:0001500	Broad finger
6324	SCN1B	HP:0001695	Cardiac arrest
6324	SCN1B	HP:0000340	Sloping forehead
6324	SCN1B	HP:0001650	Aortic valve stenosis
6324	SCN1B	HP:0001649	Tachycardia
6324	SCN1B	HP:0001663	Ventricular fibrillation
6324	SCN1B	HP:0031475	Status epilepticus without prominent motor symptoms
6324	SCN1B	HP:0001629	Ventricular septal defect
6324	SCN1B	HP:0001635	Congestive heart failure
6324	SCN1B	HP:0011198	EEG with generalized epileptiform discharges
6324	SCN1B	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
6324	SCN1B	HP:0011185	EEG with focal epileptiform discharges
6324	SCN1B	HP:0011182	Interictal epileptiform activity
6324	SCN1B	HP:0011169	Generalized clonic seizure
6324	SCN1B	HP:0011172	Complex febrile seizure
6324	SCN1B	HP:0011151	Atypical absence status epilepticus
6324	SCN1B	HP:0005280	Depressed nasal bridge
6324	SCN1B	HP:0000486	Strabismus
6324	SCN1B	HP:0012469	Infantile spasms
6324	SCN1B	HP:0000463	Anteverted nares
6324	SCN1B	HP:0012448	Delayed myelination
6324	SCN1B	HP:0000466	Limited neck range of motion
6324	SCN1B	HP:0001763	Pes planus
6324	SCN1B	HP:0012554	Absent thumbnail
6326	SCN2A	HP:0002487	Hyperkinetic movements
6326	SCN2A	HP:0025101	Dysgenesis of the hippocampus
6326	SCN2A	HP:0007270	Atypical absence seizure
6326	SCN2A	HP:0020221	Clonic seizure
6326	SCN2A	HP:0007240	Progressive gait ataxia
6326	SCN2A	HP:0010864	Intellectual disability, severe
6326	SCN2A	HP:0010851	EEG with burst suppression
6326	SCN2A	HP:0010850	EEG with spike-wave complexes
6326	SCN2A	HP:0002421	Poor head control
6326	SCN2A	HP:0001298	Encephalopathy
6326	SCN2A	HP:0001276	Hypertonia
6326	SCN2A	HP:0001272	Cerebellar atrophy
6326	SCN2A	HP:0001250	Seizure
6326	SCN2A	HP:0001252	Hypotonia
6326	SCN2A	HP:0001251	Ataxia
6326	SCN2A	HP:0001249	Intellectual disability
6326	SCN2A	HP:0001266	Choreoathetosis
6326	SCN2A	HP:0001263	Global developmental delay
6326	SCN2A	HP:0001257	Spasticity
6326	SCN2A	HP:0008770	Obsessive-compulsive trait
6326	SCN2A	HP:0410263	Brain imaging abnormality
6326	SCN2A	HP:0007359	Focal-onset seizure
6326	SCN2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset
6326	SCN2A	HP:0002539	Cortical dysplasia
6326	SCN2A	HP:0002521	Hypsarrhythmia
6326	SCN2A	HP:0002510	Spastic tetraplegia
6326	SCN2A	HP:0002506	Diffuse cerebral atrophy
6326	SCN2A	HP:0000070	Ureterocele
6326	SCN2A	HP:0000054	Micropenis
6326	SCN2A	HP:0025335	Delayed ability to stand
6326	SCN2A	HP:0001332	Dystonia
6326	SCN2A	HP:0001327	Photosensitive myoclonic seizure
6326	SCN2A	HP:0001337	Tremor
6326	SCN2A	HP:0000006	Autosomal dominant inheritance
6326	SCN2A	HP:0001336	Myoclonus
6326	SCN2A	HP:0001302	Pachygyria
6326	SCN2A	HP:0001300	Parkinsonism
6326	SCN2A	HP:0000175	Cleft palate
6326	SCN2A	HP:0008947	Infantile muscular hypotonia
6326	SCN2A	HP:0000110	Renal dysplasia
6326	SCN2A	HP:0004684	Talipes valgus
6326	SCN2A	HP:0002013	Vomiting
6326	SCN2A	HP:0030915	Cerebellar edema
6326	SCN2A	HP:0100543	Cognitive impairment
6326	SCN2A	HP:0002069	Bilateral tonic-clonic seizure
6326	SCN2A	HP:0002067	Bradykinesia
6326	SCN2A	HP:0002063	Rigidity
6326	SCN2A	HP:0002079	Hypoplasia of the corpus callosum
6326	SCN2A	HP:0002123	Generalized myoclonic seizure
6326	SCN2A	HP:0002121	Generalized non-motor (absence) seizure
6326	SCN2A	HP:0002133	Status epilepticus
6326	SCN2A	HP:0002131	Episodic ataxia
6326	SCN2A	HP:0002104	Apnea
6326	SCN2A	HP:0002197	Generalized-onset seizure
6326	SCN2A	HP:0010532	Paroxysmal vertigo
6326	SCN2A	HP:0002266	Focal clonic seizure
6326	SCN2A	HP:0003593	Infantile onset
6326	SCN2A	HP:0100702	Arachnoid cyst
6326	SCN2A	HP:0100710	Impulsivity
6326	SCN2A	HP:0100716	Self-injurious behavior
6326	SCN2A	HP:0200134	Epileptic encephalopathy
6326	SCN2A	HP:0002283	Global brain atrophy
6326	SCN2A	HP:0007010	Poor fine motor coordination
6326	SCN2A	HP:0007058	Generalized cerebral atrophy/hypoplasia
6326	SCN2A	HP:0002384	Focal impaired awareness seizure
6326	SCN2A	HP:0002396	Cogwheel rigidity
6326	SCN2A	HP:0002360	Sleep disturbance
6326	SCN2A	HP:0002361	Psychomotor deterioration
6326	SCN2A	HP:0002376	Developmental regression
6326	SCN2A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6326	SCN2A	HP:0002372	Normal interictal EEG
6326	SCN2A	HP:0002345	Action tremor
6326	SCN2A	HP:0002353	EEG abnormality
6326	SCN2A	HP:0002349	Focal aware seizure
6326	SCN2A	HP:0002321	Vertigo
6326	SCN2A	HP:0010841	Multifocal epileptiform discharges
6326	SCN2A	HP:0007204	Diffuse white matter abnormalities
6326	SCN2A	HP:0007207	Photosensitive tonic-clonic seizure
6326	SCN2A	HP:0100660	Dyskinesia
6326	SCN2A	HP:0010819	Atonic seizure
6326	SCN2A	HP:0010818	Generalized tonic seizure
6326	SCN2A	HP:0200048	Cyanotic episode
6326	SCN2A	HP:0100694	Tibial torsion
6326	SCN2A	HP:0002311	Incoordination
6326	SCN2A	HP:0002307	Drooling
6326	SCN2A	HP:0006813	Focal hemiclonic seizure
6326	SCN2A	HP:0000639	Nystagmus
6326	SCN2A	HP:0011344	Severe global developmental delay
6326	SCN2A	HP:0003066	Limited knee extension
6326	SCN2A	HP:0000752	Hyperactivity
6326	SCN2A	HP:0000739	Anxiety
6326	SCN2A	HP:0000736	Short attention span
6326	SCN2A	HP:0000717	Autism
6326	SCN2A	HP:0000729	Autistic behavior
6326	SCN2A	HP:0000707	Abnormality of the nervous system
6326	SCN2A	HP:0010174	Broad phalanx of the toes
6326	SCN2A	HP:0011468	Facial tics
6326	SCN2A	HP:0011463	Childhood onset
6326	SCN2A	HP:0012759	Neurodevelopmental abnormality
6326	SCN2A	HP:0012847	Epilepsia partialis continua
6326	SCN2A	HP:0000826	Precocious puberty
6326	SCN2A	HP:0045084	Limb myoclonus
6326	SCN2A	HP:0000980	Pallor
6326	SCN2A	HP:0000961	Cyanosis
6326	SCN2A	HP:0008081	Pes valgus
6326	SCN2A	HP:0009381	Short finger
6326	SCN2A	HP:0000252	Microcephaly
6326	SCN2A	HP:0001537	Umbilical hernia
6326	SCN2A	HP:0001508	Failure to thrive
6326	SCN2A	HP:0001500	Broad finger
6326	SCN2A	HP:0000340	Sloping forehead
6326	SCN2A	HP:0032792	Tonic seizure
6326	SCN2A	HP:0031475	Status epilepticus without prominent motor symptoms
6326	SCN2A	HP:0001629	Ventricular septal defect
6326	SCN2A	HP:0011198	EEG with generalized epileptiform discharges
6326	SCN2A	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
6326	SCN2A	HP:0011185	EEG with focal epileptiform discharges
6326	SCN2A	HP:0011182	Interictal epileptiform activity
6326	SCN2A	HP:0011169	Generalized clonic seizure
6326	SCN2A	HP:0011172	Complex febrile seizure
6326	SCN2A	HP:0011171	Simple febrile seizure
6326	SCN2A	HP:0011167	Focal tonic seizure
6326	SCN2A	HP:0011151	Atypical absence status epilepticus
6326	SCN2A	HP:0011153	Focal motor seizure
6326	SCN2A	HP:0005280	Depressed nasal bridge
6326	SCN2A	HP:0000486	Strabismus
6326	SCN2A	HP:0012469	Infantile spasms
6326	SCN2A	HP:0000463	Anteverted nares
6326	SCN2A	HP:0012448	Delayed myelination
6326	SCN2A	HP:0011121	Abnormality of skin morphology
6326	SCN2A	HP:0000466	Limited neck range of motion
6326	SCN2A	HP:0001763	Pes planus
6326	SCN2A	HP:0012554	Absent thumbnail
6327	SCN2B	HP:0001279	Syncope
6327	SCN2B	HP:0000006	Autosomal dominant inheritance
6327	SCN2B	HP:0011715	Trifascicular block
6327	SCN2B	HP:0011712	Right bundle branch block
6327	SCN2B	HP:0011704	Sick sinus syndrome
6327	SCN2B	HP:0011705	First degree atrioventricular block
6327	SCN2B	HP:0004757	Paroxysmal atrial fibrillation
6327	SCN2B	HP:0004755	Supraventricular tachycardia
6327	SCN2B	HP:0004751	Paroxysmal ventricular tachycardia
6327	SCN2B	HP:0003596	Middle age onset
6327	SCN2B	HP:0004308	Ventricular arrhythmia
6327	SCN2B	HP:0000822	Hypertension
6327	SCN2B	HP:0012248	Prolonged PR interval
6327	SCN2B	HP:0012251	ST segment elevation
6327	SCN2B	HP:0001695	Cardiac arrest
6327	SCN2B	HP:0001649	Tachycardia
6327	SCN2B	HP:0001663	Ventricular fibrillation
6328	SCN3A	HP:0020221	Clonic seizure
6328	SCN3A	HP:0002421	Poor head control
6328	SCN3A	HP:0001298	Encephalopathy
6328	SCN3A	HP:0001290	Generalized hypotonia
6328	SCN3A	HP:0001273	Abnormal corpus callosum morphology
6328	SCN3A	HP:0001268	Mental deterioration
6328	SCN3A	HP:0001250	Seizure
6328	SCN3A	HP:0001252	Hypotonia
6328	SCN3A	HP:0001251	Ataxia
6328	SCN3A	HP:0001249	Intellectual disability
6328	SCN3A	HP:0001265	Hyporeflexia
6328	SCN3A	HP:0001263	Global developmental delay
6328	SCN3A	HP:0001257	Spasticity
6328	SCN3A	HP:0007359	Focal-onset seizure
6328	SCN3A	HP:0002540	Inability to walk
6328	SCN3A	HP:0002521	Hypsarrhythmia
6328	SCN3A	HP:0002510	Spastic tetraplegia
6328	SCN3A	HP:0002509	Limb hypertonia
6328	SCN3A	HP:0002500	Abnormal cerebral white matter morphology
6328	SCN3A	HP:0001344	Absent speech
6328	SCN3A	HP:0001337	Tremor
6328	SCN3A	HP:0000006	Autosomal dominant inheritance
6328	SCN3A	HP:0001336	Myoclonus
6328	SCN3A	HP:0001315	Reduced tendon reflexes
6328	SCN3A	HP:0002020	Gastroesophageal reflux
6328	SCN3A	HP:0002015	Dysphagia
6328	SCN3A	HP:0002069	Bilateral tonic-clonic seizure
6328	SCN3A	HP:0002063	Rigidity
6328	SCN3A	HP:0002079	Hypoplasia of the corpus callosum
6328	SCN3A	HP:0002059	Cerebral atrophy
6328	SCN3A	HP:0002133	Status epilepticus
6328	SCN3A	HP:0002126	Polymicrogyria
6328	SCN3A	HP:0003593	Infantile onset
6328	SCN3A	HP:0100704	Cerebral visual impairment
6328	SCN3A	HP:0100710	Impulsivity
6328	SCN3A	HP:0200134	Epileptic encephalopathy
6328	SCN3A	HP:0007018	Attention deficit hyperactivity disorder
6328	SCN3A	HP:0011968	Feeding difficulties
6328	SCN3A	HP:0002384	Focal impaired awareness seizure
6328	SCN3A	HP:0002376	Developmental regression
6328	SCN3A	HP:0002355	Difficulty walking
6328	SCN3A	HP:0002317	Unsteady gait
6328	SCN3A	HP:0010844	EEG with multifocal slow activity
6328	SCN3A	HP:0100660	Dyskinesia
6328	SCN3A	HP:0003623	Neonatal onset
6328	SCN3A	HP:0006889	Intellectual disability, borderline
6328	SCN3A	HP:0000639	Nystagmus
6328	SCN3A	HP:0000648	Optic atrophy
6328	SCN3A	HP:0000668	Hypodontia
6328	SCN3A	HP:0004322	Short stature
6328	SCN3A	HP:0004305	Involuntary movements
6328	SCN3A	HP:0000750	Delayed speech and language development
6328	SCN3A	HP:0000717	Autism
6328	SCN3A	HP:0000708	Atypical behavior
6328	SCN3A	HP:0011471	Gastrostomy tube feeding in infancy
6328	SCN3A	HP:0011463	Childhood onset
6328	SCN3A	HP:0011443	Abnormality of coordination
6328	SCN3A	HP:0000274	Small face
6328	SCN3A	HP:0000252	Microcephaly
6328	SCN3A	HP:0001558	Decreased fetal movement
6328	SCN3A	HP:0001508	Failure to thrive
6328	SCN3A	HP:0012332	Abnormal autonomic nervous system physiology
6328	SCN3A	HP:0000348	High forehead
6328	SCN3A	HP:0011171	Simple febrile seizure
6328	SCN3A	HP:0000494	Downslanted palpebral fissures
6328	SCN3A	HP:0012444	Brain atrophy
6328	SCN3A	HP:0012447	Abnormal myelination
6328	SCN3A	HP:0000508	Ptosis
6328	SCN3A	HP:0000504	Abnormality of vision
6328	SCN3A	HP:0012547	Abnormal involuntary eye movements
6328	SCN3A	HP:0000546	Retinal degeneration
6329	SCN4A	HP:0002486	Myotonia
6329	SCN4A	HP:0002491	Spasticity of facial muscles
6329	SCN4A	HP:0003768	Periodic paralysis
6329	SCN4A	HP:0007215	Periodic hyperkalemic paralysis
6329	SCN4A	HP:0003752	Episodic flaccid weakness
6329	SCN4A	HP:0003722	Neck flexor weakness
6329	SCN4A	HP:0003740	Myotonia with warm-up phenomenon
6329	SCN4A	HP:0003701	Proximal muscle weakness
6329	SCN4A	HP:0003720	Generalized muscle hypertrophy
6329	SCN4A	HP:0003712	Skeletal muscle hypertrophy
6329	SCN4A	HP:0001276	Hypertonia
6329	SCN4A	HP:0001270	Motor delay
6329	SCN4A	HP:0001288	Gait disturbance
6329	SCN4A	HP:0001252	Hypotonia
6329	SCN4A	HP:0001249	Intellectual disability
6329	SCN4A	HP:0003829	Typified by incomplete penetrance
6329	SCN4A	HP:0003803	Type 1 muscle fiber predominance
6329	SCN4A	HP:0001376	Limitation of joint mobility
6329	SCN4A	HP:0001371	Flexion contracture
6329	SCN4A	HP:0008872	Feeding difficulties in infancy
6329	SCN4A	HP:0410011	Abnormality of masticatory muscle
6329	SCN4A	HP:0001324	Muscle weakness
6329	SCN4A	HP:0000007	Autosomal recessive inheritance
6329	SCN4A	HP:0000006	Autosomal dominant inheritance
6329	SCN4A	HP:0002650	Scoliosis
6329	SCN4A	HP:0001319	Neonatal hypotonia
6329	SCN4A	HP:0001315	Reduced tendon reflexes
6329	SCN4A	HP:0031108	Triceps weakness
6329	SCN4A	HP:0002607	Bowel incontinence
6329	SCN4A	HP:0001488	Bilateral ptosis
6329	SCN4A	HP:0025425	Laryngospasm
6329	SCN4A	HP:0008967	Exercise-induced muscle stiffness
6329	SCN4A	HP:0001446	Abnormality of the musculature of the upper limbs
6329	SCN4A	HP:0002792	Reduced vital capacity
6329	SCN4A	HP:0003326	Myalgia
6329	SCN4A	HP:0002015	Dysphagia
6329	SCN4A	HP:0003307	Hyperlordosis
6329	SCN4A	HP:0005949	Apneic episodes in infancy
6329	SCN4A	HP:0011809	Paradoxical myotonia
6329	SCN4A	HP:0002099	Asthma
6329	SCN4A	HP:0002094	Dyspnea
6329	SCN4A	HP:0002093	Respiratory insufficiency
6329	SCN4A	HP:0002091	Restrictive ventilatory defect
6329	SCN4A	HP:0003394	Muscle spasm
6329	SCN4A	HP:0002047	Malignant hyperthermia
6329	SCN4A	HP:0003388	Easy fatigability
6329	SCN4A	HP:0008180	Mildly elevated creatine kinase
6329	SCN4A	HP:0008153	Periodic hypokalemic paresis
6329	SCN4A	HP:0003473	Fatigable weakness
6329	SCN4A	HP:0003470	Paralysis
6329	SCN4A	HP:0002153	Hyperkalemia
6329	SCN4A	HP:0003484	Upper limb muscle weakness
6329	SCN4A	HP:0003457	EMG abnormality
6329	SCN4A	HP:0003458	EMG: myopathic abnormalities
6329	SCN4A	HP:0003443	Decreased size of nerve terminals
6329	SCN4A	HP:0002104	Apnea
6329	SCN4A	HP:0003402	Decreased miniature endplate potentials
6329	SCN4A	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
6329	SCN4A	HP:0002194	Delayed gross motor development
6329	SCN4A	HP:0008256	Adrenocortical adenoma
6329	SCN4A	HP:0010548	Percussion myotonia
6329	SCN4A	HP:0003401	Paresthesia
6329	SCN4A	HP:0003593	Infantile onset
6329	SCN4A	HP:0003552	Muscle stiffness
6329	SCN4A	HP:0003547	Shoulder girdle muscle weakness
6329	SCN4A	HP:0004875	Neonatal inspiratory stridor
6329	SCN4A	HP:0002203	Respiratory paralysis
6329	SCN4A	HP:0100749	Chest pain
6329	SCN4A	HP:0011998	Postprandial hyperglycemia
6329	SCN4A	HP:0011968	Feeding difficulties
6329	SCN4A	HP:0010628	Facial palsy
6329	SCN4A	HP:0002380	Fasciculations
6329	SCN4A	HP:0003694	Late-onset proximal muscle weakness
6329	SCN4A	HP:0002329	Drowsiness
6329	SCN4A	HP:0100613	Death in early adulthood
6329	SCN4A	HP:0003623	Neonatal onset
6329	SCN4A	HP:0003621	Juvenile onset
6329	SCN4A	HP:0009077	Weakness of long finger extensor muscles
6329	SCN4A	HP:0000651	Diplopia
6329	SCN4A	HP:0000622	Blurred vision
6329	SCN4A	HP:0000602	Ophthalmoplegia
6329	SCN4A	HP:0009020	Exercise-induced muscle fatigue
6329	SCN4A	HP:0009005	Weakness of the intrinsic hand muscles
6329	SCN4A	HP:0004322	Short stature
6329	SCN4A	HP:0005659	Thoracic kyphoscoliosis
6329	SCN4A	HP:0004303	Abnormal muscle fiber morphology
6329	SCN4A	HP:0100021	Cerebral palsy
6329	SCN4A	HP:0012726	Episodic hypokalemia
6329	SCN4A	HP:0011462	Young adult onset
6329	SCN4A	HP:0012764	Orthopnea
6329	SCN4A	HP:0012903	Myotonia of the upper limb
6329	SCN4A	HP:0003198	Myopathy
6329	SCN4A	HP:0012904	Cold-sensitive myotonia
6329	SCN4A	HP:0012900	Myotonia of the face
6329	SCN4A	HP:0012901	Myotonia of the jaw
6329	SCN4A	HP:0012902	Myotonia of the lower limb
6329	SCN4A	HP:0000821	Hypothyroidism
6329	SCN4A	HP:0012899	Handgrip myotonia
6329	SCN4A	HP:0012892	Facial muscle hypertrophy
6329	SCN4A	HP:0003236	Elevated circulating creatine kinase concentration
6329	SCN4A	HP:0003202	Skeletal muscle atrophy
6329	SCN4A	HP:0030842	Choking episodes
6329	SCN4A	HP:0010307	Stridor
6329	SCN4A	HP:0100284	EMG: myotonic discharges
6329	SCN4A	HP:0000961	Cyanosis
6329	SCN4A	HP:0011675	Arrhythmia
6329	SCN4A	HP:0000286	Epicanthus
6329	SCN4A	HP:0012240	Increased intramyocellular lipid droplets
6329	SCN4A	HP:0002878	Respiratory failure
6329	SCN4A	HP:0000218	High palate
6329	SCN4A	HP:0002875	Exertional dyspnea
6329	SCN4A	HP:0001522	Death in infancy
6329	SCN4A	HP:0031372	Cold paresis
6329	SCN4A	HP:0031374	Ankle weakness
6329	SCN4A	HP:0012378	Fatigue
6329	SCN4A	HP:0011042	Abnormal blood potassium concentration
6329	SCN4A	HP:0030208	Anti-acetylcholine receptor antibody positivity
6329	SCN4A	HP:0001608	Abnormality of the voice
6329	SCN4A	HP:0030196	Fatigable weakness of respiratory muscles
6329	SCN4A	HP:0030199	Fatigable weakness of neck muscles
6329	SCN4A	HP:0002902	Hyponatremia
6329	SCN4A	HP:0002900	Hypokalemia
6329	SCN4A	HP:0001635	Congestive heart failure
6329	SCN4A	HP:0006670	Impaired myocardial contractility
6329	SCN4A	HP:0005348	Inspiratory stridor
6329	SCN4A	HP:0000486	Strabismus
6329	SCN4A	HP:0000496	Abnormality of eye movement
6329	SCN4A	HP:0000508	Ptosis
6329	SCN4A	HP:0000597	Ophthalmoparesis
6329	SCN4A	HP:0012515	Hip flexor weakness
6329	SCN4A	HP:0000544	External ophthalmoplegia
6330	SCN4B	HP:0001197	Abnormality of prenatal development or birth
6330	SCN4B	HP:0001279	Syncope
6330	SCN4B	HP:0001250	Seizure
6330	SCN4B	HP:0000006	Autosomal dominant inheritance
6330	SCN4B	HP:0500018	Abnormal cardiac exercise stress test
6330	SCN4B	HP:0003581	Adult onset
6330	SCN4B	HP:0003621	Juvenile onset
6330	SCN4B	HP:0004308	Ventricular arrhythmia
6330	SCN4B	HP:0011463	Childhood onset
6330	SCN4B	HP:0012266	T-wave alternans
6330	SCN4B	HP:0005135	Abnormal T-wave
6330	SCN4B	HP:0005110	Atrial fibrillation
6330	SCN4B	HP:0005184	Prolonged QTc interval
6330	SCN4B	HP:0002900	Hypokalemia
6330	SCN4B	HP:0000365	Hearing impairment
6330	SCN4B	HP:0001688	Sinus bradycardia
6330	SCN4B	HP:0012332	Abnormal autonomic nervous system physiology
6330	SCN4B	HP:0001664	Torsade de pointes
6330	SCN4B	HP:0001678	Atrioventricular block
6330	SCN4B	HP:0001645	Sudden cardiac death
6330	SCN4B	HP:0001657	Prolonged QT interval
6331	SCN5A	HP:0410174	Increased circulating troponin T concentration
6331	SCN5A	HP:0001197	Abnormality of prenatal development or birth
6331	SCN5A	HP:0001297	Stroke
6331	SCN5A	HP:0001279	Syncope
6331	SCN5A	HP:0001250	Seizure
6331	SCN5A	HP:0001260	Dysarthria
6331	SCN5A	HP:0001371	Flexion contracture
6331	SCN5A	HP:0000007	Autosomal recessive inheritance
6331	SCN5A	HP:0000006	Autosomal dominant inheritance
6331	SCN5A	HP:0025478	Atrial standstill
6331	SCN5A	HP:0031295	Left atrial enlargement
6331	SCN5A	HP:0500018	Abnormal cardiac exercise stress test
6331	SCN5A	HP:0001426	Multifactorial inheritance
6331	SCN5A	HP:0030973	Postexertional symptom exacerbation
6331	SCN5A	HP:0002018	Nausea
6331	SCN5A	HP:0002027	Abdominal pain
6331	SCN5A	HP:0005949	Apneic episodes in infancy
6331	SCN5A	HP:0002094	Dyspnea
6331	SCN5A	HP:0002047	Malignant hyperthermia
6331	SCN5A	HP:0033122	Absent P wave
6331	SCN5A	HP:0100578	Lipoatrophy
6331	SCN5A	HP:0011715	Trifascicular block
6331	SCN5A	HP:0011711	Left anterior fascicular block
6331	SCN5A	HP:0011712	Right bundle branch block
6331	SCN5A	HP:0011713	Left bundle branch block
6331	SCN5A	HP:0011710	Bundle branch block
6331	SCN5A	HP:0011704	Sick sinus syndrome
6331	SCN5A	HP:0011705	First degree atrioventricular block
6331	SCN5A	HP:0011707	Mobitz I atrioventricular block
6331	SCN5A	HP:0002140	Ischemic stroke
6331	SCN5A	HP:0003457	EMG abnormality
6331	SCN5A	HP:0004757	Paroxysmal atrial fibrillation
6331	SCN5A	HP:0004756	Ventricular tachycardia
6331	SCN5A	HP:0004755	Supraventricular tachycardia
6331	SCN5A	HP:0004754	Permanent atrial fibrillation
6331	SCN5A	HP:0004751	Paroxysmal ventricular tachycardia
6331	SCN5A	HP:0004749	Atrial flutter
6331	SCN5A	HP:0011841	Ventricular flutter
6331	SCN5A	HP:0003596	Middle age onset
6331	SCN5A	HP:0003577	Congenital onset
6331	SCN5A	HP:0003581	Adult onset
6331	SCN5A	HP:0003560	Muscular dystrophy
6331	SCN5A	HP:0002381	Aphasia
6331	SCN5A	HP:0002321	Vertigo
6331	SCN5A	HP:0002315	Headache
6331	SCN5A	HP:0002301	Hemiplegia
6331	SCN5A	HP:0003621	Juvenile onset
6331	SCN5A	HP:0001962	Palpitations
6331	SCN5A	HP:0001907	Thromboembolism
6331	SCN5A	HP:0012664	Reduced left ventricular ejection fraction
6331	SCN5A	HP:0004308	Ventricular arrhythmia
6331	SCN5A	HP:0030682	Left ventricular noncompaction
6331	SCN5A	HP:0034198	Second trimester onset
6331	SCN5A	HP:0012722	Heart block
6331	SCN5A	HP:0011463	Childhood onset
6331	SCN5A	HP:0011462	Young adult onset
6331	SCN5A	HP:0003198	Myopathy
6331	SCN5A	HP:0003236	Elevated circulating creatine kinase concentration
6331	SCN5A	HP:0003202	Skeletal muscle atrophy
6331	SCN5A	HP:0000982	Palmoplantar keratoderma
6331	SCN5A	HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway
6331	SCN5A	HP:0011675	Arrhythmia
6331	SCN5A	HP:0012248	Prolonged PR interval
6331	SCN5A	HP:0012251	ST segment elevation
6331	SCN5A	HP:0005135	Abnormal T-wave
6331	SCN5A	HP:0005133	Right ventricular dilatation
6331	SCN5A	HP:0005110	Atrial fibrillation
6331	SCN5A	HP:0012378	Fatigue
6331	SCN5A	HP:0005172	Left posterior fascicular block
6331	SCN5A	HP:0005170	Complete heart block with broad QRS complexes
6331	SCN5A	HP:0005184	Prolonged QTc interval
6331	SCN5A	HP:0005180	Tricuspid regurgitation
6331	SCN5A	HP:0002900	Hypokalemia
6331	SCN5A	HP:0005155	Ventricular escape rhythm
6331	SCN5A	HP:0000365	Hearing impairment
6331	SCN5A	HP:0001695	Cardiac arrest
6331	SCN5A	HP:0001688	Sinus bradycardia
6331	SCN5A	HP:0001699	Sudden death
6331	SCN5A	HP:0012332	Abnormal autonomic nervous system physiology
6331	SCN5A	HP:0001664	Torsade de pointes
6331	SCN5A	HP:0001678	Atrioventricular block
6331	SCN5A	HP:0001649	Tachycardia
6331	SCN5A	HP:0001645	Sudden cardiac death
6331	SCN5A	HP:0001644	Dilated cardiomyopathy
6331	SCN5A	HP:0001663	Ventricular fibrillation
6331	SCN5A	HP:0001662	Bradycardia
6331	SCN5A	HP:0001657	Prolonged QT interval
6331	SCN5A	HP:0001627	Abnormal heart morphology
6331	SCN5A	HP:0001635	Congestive heart failure
6331	SCN5A	HP:0001638	Cardiomyopathy
6331	SCN5A	HP:0006699	Premature atrial contractions
6331	SCN5A	HP:0006682	Premature ventricular contraction
6331	SCN5A	HP:0006673	Reduced systolic function
6331	SCN5A	HP:0000407	Sensorineural hearing impairment
6331	SCN5A	HP:0001712	Left ventricular hypertrophy
6331	SCN5A	HP:0031546	Cardiac conduction abnormality
6331	SCN5A	HP:0001790	Nonimmune hydrops fetalis
6331	SCN5A	HP:0001789	Hydrops fetalis
6331	SCN5A	HP:0031595	Abnormal P wave
6331	SCN5A	HP:0001874	Abnormality of neutrophils
6334	SCN8A	HP:0025162	Severe temper tantrums
6334	SCN8A	HP:0020221	Clonic seizure
6334	SCN8A	HP:0010864	Intellectual disability, severe
6334	SCN8A	HP:0010850	EEG with spike-wave complexes
6334	SCN8A	HP:0002421	Poor head control
6334	SCN8A	HP:0001298	Encephalopathy
6334	SCN8A	HP:0001290	Generalized hypotonia
6334	SCN8A	HP:0001276	Hypertonia
6334	SCN8A	HP:0001272	Cerebellar atrophy
6334	SCN8A	HP:0001273	Abnormal corpus callosum morphology
6334	SCN8A	HP:0001270	Motor delay
6334	SCN8A	HP:0001268	Mental deterioration
6334	SCN8A	HP:0001256	Intellectual disability, mild
6334	SCN8A	HP:0001250	Seizure
6334	SCN8A	HP:0001252	Hypotonia
6334	SCN8A	HP:0001251	Ataxia
6334	SCN8A	HP:0001249	Intellectual disability
6334	SCN8A	HP:0001265	Hyporeflexia
6334	SCN8A	HP:0001266	Choreoathetosis
6334	SCN8A	HP:0001260	Dysarthria
6334	SCN8A	HP:0001263	Global developmental delay
6334	SCN8A	HP:0001257	Spasticity
6334	SCN8A	HP:0410263	Brain imaging abnormality
6334	SCN8A	HP:0007359	Focal-onset seizure
6334	SCN8A	HP:0007334	Bilateral tonic-clonic seizure with focal onset
6334	SCN8A	HP:0002521	Hypsarrhythmia
6334	SCN8A	HP:0002509	Limb hypertonia
6334	SCN8A	HP:0025312	Esophoria
6334	SCN8A	HP:0012002	Experiential epileptic aura
6334	SCN8A	HP:0001332	Dystonia
6334	SCN8A	HP:0001337	Tremor
6334	SCN8A	HP:0000006	Autosomal dominant inheritance
6334	SCN8A	HP:0001336	Myoclonus
6334	SCN8A	HP:0001310	Dysmetria
6334	SCN8A	HP:0001315	Reduced tendon reflexes
6334	SCN8A	HP:0002020	Gastroesophageal reflux
6334	SCN8A	HP:0100543	Cognitive impairment
6334	SCN8A	HP:0002069	Bilateral tonic-clonic seizure
6334	SCN8A	HP:0002066	Gait ataxia
6334	SCN8A	HP:0002063	Rigidity
6334	SCN8A	HP:0002072	Chorea
6334	SCN8A	HP:0002059	Cerebral atrophy
6334	SCN8A	HP:0002121	Generalized non-motor (absence) seizure
6334	SCN8A	HP:0002133	Status epilepticus
6334	SCN8A	HP:0002104	Apnea
6334	SCN8A	HP:0002187	Intellectual disability, profound
6334	SCN8A	HP:0033258	Sudden unexpected death in epilepsy
6334	SCN8A	HP:0002266	Focal clonic seizure
6334	SCN8A	HP:0003593	Infantile onset
6334	SCN8A	HP:0003577	Congenital onset
6334	SCN8A	HP:0100710	Impulsivity
6334	SCN8A	HP:0200134	Epileptic encephalopathy
6334	SCN8A	HP:0007018	Attention deficit hyperactivity disorder
6334	SCN8A	HP:0011968	Feeding difficulties
6334	SCN8A	HP:0002384	Focal impaired awareness seizure
6334	SCN8A	HP:0002361	Psychomotor deterioration
6334	SCN8A	HP:0002376	Developmental regression
6334	SCN8A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6334	SCN8A	HP:0002372	Normal interictal EEG
6334	SCN8A	HP:0002355	Difficulty walking
6334	SCN8A	HP:0003680	Nonprogressive
6334	SCN8A	HP:0002317	Unsteady gait
6334	SCN8A	HP:0010841	Multifocal epileptiform discharges
6334	SCN8A	HP:0010844	EEG with multifocal slow activity
6334	SCN8A	HP:0100660	Dyskinesia
6334	SCN8A	HP:0010818	Generalized tonic seizure
6334	SCN8A	HP:0007166	Paroxysmal dyskinesia
6334	SCN8A	HP:0003623	Neonatal onset
6334	SCN8A	HP:0002305	Athetosis
6334	SCN8A	HP:0006813	Focal hemiclonic seizure
6334	SCN8A	HP:0006889	Intellectual disability, borderline
6334	SCN8A	HP:0000640	Gaze-evoked nystagmus
6334	SCN8A	HP:0000639	Nystagmus
6334	SCN8A	HP:0000646	Amblyopia
6334	SCN8A	HP:0000648	Optic atrophy
6334	SCN8A	HP:0000609	Optic nerve hypoplasia
6334	SCN8A	HP:0000668	Hypodontia
6334	SCN8A	HP:0004322	Short stature
6334	SCN8A	HP:0004305	Involuntary movements
6334	SCN8A	HP:0000750	Delayed speech and language development
6334	SCN8A	HP:0000717	Autism
6334	SCN8A	HP:0000729	Autistic behavior
6334	SCN8A	HP:0000708	Atypical behavior
6334	SCN8A	HP:0011463	Childhood onset
6334	SCN8A	HP:0011443	Abnormality of coordination
6334	SCN8A	HP:0045084	Limb myoclonus
6334	SCN8A	HP:0000961	Cyanosis
6334	SCN8A	HP:0000253	Progressive microcephaly
6334	SCN8A	HP:0000252	Microcephaly
6334	SCN8A	HP:0001561	Polyhydramnios
6334	SCN8A	HP:0001558	Decreased fetal movement
6334	SCN8A	HP:0001508	Failure to thrive
6334	SCN8A	HP:0011097	Epileptic spasm
6334	SCN8A	HP:0032792	Tonic seizure
6334	SCN8A	HP:0000348	High forehead
6334	SCN8A	HP:0011182	Interictal epileptiform activity
6334	SCN8A	HP:0011169	Generalized clonic seizure
6334	SCN8A	HP:0011172	Complex febrile seizure
6334	SCN8A	HP:0011171	Simple febrile seizure
6334	SCN8A	HP:0011167	Focal tonic seizure
6334	SCN8A	HP:0011153	Focal motor seizure
6334	SCN8A	HP:0000486	Strabismus
6334	SCN8A	HP:0000494	Downslanted palpebral fissures
6334	SCN8A	HP:0012444	Brain atrophy
6334	SCN8A	HP:0012447	Abnormal myelination
6334	SCN8A	HP:0000508	Ptosis
6334	SCN8A	HP:0000504	Abnormality of vision
6334	SCN8A	HP:0012547	Abnormal involuntary eye movements
6334	SCN8A	HP:0000546	Retinal degeneration
6335	SCN9A	HP:0001182	Tapered finger
6335	SCN9A	HP:0025101	Dysgenesis of the hippocampus
6335	SCN9A	HP:0007328	Impaired pain sensation
6335	SCN9A	HP:0007270	Atypical absence seizure
6335	SCN9A	HP:0007240	Progressive gait ataxia
6335	SCN9A	HP:0010850	EEG with spike-wave complexes
6335	SCN9A	HP:0001290	Generalized hypotonia
6335	SCN9A	HP:0001284	Areflexia
6335	SCN9A	HP:0001250	Seizure
6335	SCN9A	HP:0001252	Hypotonia
6335	SCN9A	HP:0001251	Ataxia
6335	SCN9A	HP:0001249	Intellectual disability
6335	SCN9A	HP:0001265	Hyporeflexia
6335	SCN9A	HP:0008770	Obsessive-compulsive trait
6335	SCN9A	HP:0007359	Focal-onset seizure
6335	SCN9A	HP:0002539	Cortical dysplasia
6335	SCN9A	HP:0000020	Urinary incontinence
6335	SCN9A	HP:0008872	Feeding difficulties in infancy
6335	SCN9A	HP:0007460	Autoamputation of digits
6335	SCN9A	HP:0006121	Acral ulceration
6335	SCN9A	HP:0002661	Painless fractures due to injury
6335	SCN9A	HP:0001327	Photosensitive myoclonic seizure
6335	SCN9A	HP:0000007	Autosomal recessive inheritance
6335	SCN9A	HP:0001337	Tremor
6335	SCN9A	HP:0000006	Autosomal dominant inheritance
6335	SCN9A	HP:0001336	Myoclonus
6335	SCN9A	HP:0002633	Vasculitis
6335	SCN9A	HP:0002645	Wormian bones
6335	SCN9A	HP:0001300	Parkinsonism
6335	SCN9A	HP:0002797	Osteolysis
6335	SCN9A	HP:0008947	Infantile muscular hypotonia
6335	SCN9A	HP:0031284	Flushing
6335	SCN9A	HP:0500005	Anal pain
6335	SCN9A	HP:0004684	Talipes valgus
6335	SCN9A	HP:0002020	Gastroesophageal reflux
6335	SCN9A	HP:0002019	Constipation
6335	SCN9A	HP:0003326	Myalgia
6335	SCN9A	HP:0002014	Diarrhea
6335	SCN9A	HP:0003307	Hyperlordosis
6335	SCN9A	HP:0100543	Cognitive impairment
6335	SCN9A	HP:0002069	Bilateral tonic-clonic seizure
6335	SCN9A	HP:0002067	Bradykinesia
6335	SCN9A	HP:0002063	Rigidity
6335	SCN9A	HP:0002045	Hypothermia
6335	SCN9A	HP:0003380	Decreased number of peripheral myelinated nerve fibers
6335	SCN9A	HP:0005930	Abnormal epiphysis morphology
6335	SCN9A	HP:0040264	Jaw pain
6335	SCN9A	HP:0002123	Generalized myoclonic seizure
6335	SCN9A	HP:0002121	Generalized non-motor (absence) seizure
6335	SCN9A	HP:0003448	Decreased sensory nerve conduction velocity
6335	SCN9A	HP:0002133	Status epilepticus
6335	SCN9A	HP:0002197	Generalized-onset seizure
6335	SCN9A	HP:0003401	Paresthesia
6335	SCN9A	HP:0003593	Infantile onset
6335	SCN9A	HP:0003577	Congenital onset
6335	SCN9A	HP:0100710	Impulsivity
6335	SCN9A	HP:0002205	Recurrent respiratory infections
6335	SCN9A	HP:0002283	Global brain atrophy
6335	SCN9A	HP:0007021	Pain insensitivity
6335	SCN9A	HP:0007010	Poor fine motor coordination
6335	SCN9A	HP:0008391	Dystrophic fingernails
6335	SCN9A	HP:0007058	Generalized cerebral atrophy/hypoplasia
6335	SCN9A	HP:0002384	Focal impaired awareness seizure
6335	SCN9A	HP:0001069	Episodic hyperhidrosis
6335	SCN9A	HP:0002396	Cogwheel rigidity
6335	SCN9A	HP:0002376	Developmental regression
6335	SCN9A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6335	SCN9A	HP:0002345	Action tremor
6335	SCN9A	HP:0002349	Focal aware seizure
6335	SCN9A	HP:0003677	Slowly progressive
6335	SCN9A	HP:0010841	Multifocal epileptiform discharges
6335	SCN9A	HP:0200026	Ocular pain
6335	SCN9A	HP:0200025	Mandibular pain
6335	SCN9A	HP:0007207	Photosensitive tonic-clonic seizure
6335	SCN9A	HP:0010830	Impaired tactile sensation
6335	SCN9A	HP:0010831	Impaired proprioception
6335	SCN9A	HP:0010829	Impaired temperature sensation
6335	SCN9A	HP:0010819	Atonic seizure
6335	SCN9A	HP:0010818	Generalized tonic seizure
6335	SCN9A	HP:0009830	Peripheral neuropathy
6335	SCN9A	HP:0001097	Keratoconjunctivitis sicca
6335	SCN9A	HP:0200048	Cyanotic episode
6335	SCN9A	HP:0010783	Erythema
6335	SCN9A	HP:0032147	Erythromelalgia
6335	SCN9A	HP:0100694	Tibial torsion
6335	SCN9A	HP:0009771	Osteolytic defects of the phalanges of the hand
6335	SCN9A	HP:0003623	Neonatal onset
6335	SCN9A	HP:0002311	Incoordination
6335	SCN9A	HP:0002307	Drooling
6335	SCN9A	HP:0003621	Juvenile onset
6335	SCN9A	HP:0006813	Focal hemiclonic seizure
6335	SCN9A	HP:0001962	Palpitations
6335	SCN9A	HP:0000632	Lacrimation abnormality
6335	SCN9A	HP:0000622	Blurred vision
6335	SCN9A	HP:0001939	Abnormality of metabolism/homeostasis
6335	SCN9A	HP:0001909	Leukemia
6335	SCN9A	HP:0003066	Limited knee extension
6335	SCN9A	HP:0003028	Abnormality of the ankle
6335	SCN9A	HP:0004349	Reduced bone mineral density
6335	SCN9A	HP:0000762	Decreased nerve conduction velocity
6335	SCN9A	HP:0000739	Anxiety
6335	SCN9A	HP:0000736	Short attention span
6335	SCN9A	HP:0000729	Autistic behavior
6335	SCN9A	HP:0011468	Facial tics
6335	SCN9A	HP:0003103	Abnormal cortical bone morphology
6335	SCN9A	HP:0004409	Hyposmia
6335	SCN9A	HP:0040129	Abnormal nerve conduction velocity
6335	SCN9A	HP:0012847	Epilepsia partialis continua
6335	SCN9A	HP:0003202	Skeletal muscle atrophy
6335	SCN9A	HP:0003272	Abnormal hip bone morphology
6335	SCN9A	HP:0008000	Decreased corneal reflex
6335	SCN9A	HP:0000980	Pallor
6335	SCN9A	HP:0000975	Hyperhidrosis
6335	SCN9A	HP:0000989	Pruritus
6335	SCN9A	HP:0000970	Anhidrosis
6335	SCN9A	HP:0000966	Hypohidrosis
6335	SCN9A	HP:0008081	Pes valgus
6335	SCN9A	HP:0031417	Rhinorrhea
6335	SCN9A	HP:0002815	Abnormality of the knee
6335	SCN9A	HP:0000217	Xerostomia
6335	SCN9A	HP:0000224	Hypogeusia
6335	SCN9A	HP:0012332	Abnormal autonomic nervous system physiology
6335	SCN9A	HP:0001649	Tachycardia
6335	SCN9A	HP:0001662	Bradycardia
6335	SCN9A	HP:0031475	Status epilepticus without prominent motor symptoms
6335	SCN9A	HP:0011198	EEG with generalized epileptiform discharges
6335	SCN9A	HP:0011185	EEG with focal epileptiform discharges
6335	SCN9A	HP:0011182	Interictal epileptiform activity
6335	SCN9A	HP:0011169	Generalized clonic seizure
6335	SCN9A	HP:0011172	Complex febrile seizure
6335	SCN9A	HP:0011151	Atypical absence status epilepticus
6335	SCN9A	HP:0000458	Anosmia
6335	SCN9A	HP:0000466	Limited neck range of motion
6335	SCN9A	HP:0001763	Pes planus
6335	SCN9A	HP:0001842	Foot acroosteolysis
6335	SCN9A	HP:0001818	Paronychia
6335	SCN9A	HP:0001810	Dystrophic toenail
6335	SCN9A	HP:0001872	Abnormality of thrombocytes
6335	SCN9A	HP:0012531	Pain
6336	SCN10A	HP:0001197	Abnormality of prenatal development or birth
6336	SCN10A	HP:0001279	Syncope
6336	SCN10A	HP:0001250	Seizure
6336	SCN10A	HP:0000006	Autosomal dominant inheritance
6336	SCN10A	HP:0002633	Vasculitis
6336	SCN10A	HP:0500018	Abnormal cardiac exercise stress test
6336	SCN10A	HP:0002019	Constipation
6336	SCN10A	HP:0002045	Hypothermia
6336	SCN10A	HP:0011715	Trifascicular block
6336	SCN10A	HP:0011712	Right bundle branch block
6336	SCN10A	HP:0011704	Sick sinus syndrome
6336	SCN10A	HP:0011705	First degree atrioventricular block
6336	SCN10A	HP:0004755	Supraventricular tachycardia
6336	SCN10A	HP:0004751	Paroxysmal ventricular tachycardia
6336	SCN10A	HP:0003581	Adult onset
6336	SCN10A	HP:0002205	Recurrent respiratory infections
6336	SCN10A	HP:0009830	Peripheral neuropathy
6336	SCN10A	HP:0010783	Erythema
6336	SCN10A	HP:0001909	Leukemia
6336	SCN10A	HP:0004308	Ventricular arrhythmia
6336	SCN10A	HP:0000989	Pruritus
6336	SCN10A	HP:0012251	ST segment elevation
6336	SCN10A	HP:0005135	Abnormal T-wave
6336	SCN10A	HP:0005184	Prolonged QTc interval
6336	SCN10A	HP:0002900	Hypokalemia
6336	SCN10A	HP:0000365	Hearing impairment
6336	SCN10A	HP:0001695	Cardiac arrest
6336	SCN10A	HP:0001688	Sinus bradycardia
6336	SCN10A	HP:0012332	Abnormal autonomic nervous system physiology
6336	SCN10A	HP:0001664	Torsade de pointes
6336	SCN10A	HP:0001649	Tachycardia
6336	SCN10A	HP:0001645	Sudden cardiac death
6336	SCN10A	HP:0001663	Ventricular fibrillation
6336	SCN10A	HP:0012534	Dysesthesia
6336	SCN10A	HP:0001872	Abnormality of thrombocytes
6337	SCNN1A	HP:0100812	Halitosis
6337	SCNN1A	HP:0001279	Syncope
6337	SCNN1A	HP:0001217	Clubbing
6337	SCNN1A	HP:0003828	Variable expressivity
6337	SCNN1A	HP:0000083	Renal insufficiency
6337	SCNN1A	HP:0008872	Feeding difficulties in infancy
6337	SCNN1A	HP:0012092	Abnormality of exocrine pancreas physiology
6337	SCNN1A	HP:0001324	Muscle weakness
6337	SCNN1A	HP:0000007	Autosomal recessive inheritance
6337	SCNN1A	HP:0000006	Autosomal dominant inheritance
6337	SCNN1A	HP:0002637	Cerebral ischemia
6337	SCNN1A	HP:0002615	Hypotension
6337	SCNN1A	HP:0031274	Hypovolemic shock
6337	SCNN1A	HP:0002783	Recurrent lower respiratory tract infections
6337	SCNN1A	HP:0002795	Abnormal respiratory system physiology
6337	SCNN1A	HP:0000127	Renal salt wasting
6337	SCNN1A	HP:0002754	Osteomyelitis
6337	SCNN1A	HP:0000112	Nephropathy
6337	SCNN1A	HP:0031245	Productive cough
6337	SCNN1A	HP:0002019	Constipation
6337	SCNN1A	HP:0002014	Diarrhea
6337	SCNN1A	HP:0002013	Vomiting
6337	SCNN1A	HP:0002097	Emphysema
6337	SCNN1A	HP:0002094	Dyspnea
6337	SCNN1A	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
6337	SCNN1A	HP:0011715	Trifascicular block
6337	SCNN1A	HP:0011712	Right bundle branch block
6337	SCNN1A	HP:0011704	Sick sinus syndrome
6337	SCNN1A	HP:0011705	First degree atrioventricular block
6337	SCNN1A	HP:0002153	Hyperkalemia
6337	SCNN1A	HP:0004755	Supraventricular tachycardia
6337	SCNN1A	HP:0002110	Bronchiectasis
6337	SCNN1A	HP:0002105	Hemoptysis
6337	SCNN1A	HP:0004751	Paroxysmal ventricular tachycardia
6337	SCNN1A	HP:0008242	Pseudohypoaldosteronism
6337	SCNN1A	HP:0200114	Metabolic alkalosis
6337	SCNN1A	HP:0002205	Recurrent respiratory infections
6337	SCNN1A	HP:0200117	Recurrent upper and lower respiratory tract infections
6337	SCNN1A	HP:0100749	Chest pain
6337	SCNN1A	HP:0011947	Respiratory tract infection
6337	SCNN1A	HP:0011949	Acute infectious pneumonia
6337	SCNN1A	HP:0003508	Proportionate short stature
6337	SCNN1A	HP:0001047	Atopic dermatitis
6337	SCNN1A	HP:0200039	Pustule
6337	SCNN1A	HP:0001081	Cholelithiasis
6337	SCNN1A	HP:0003623	Neonatal onset
6337	SCNN1A	HP:0001944	Dehydration
6337	SCNN1A	HP:0001945	Fever
6337	SCNN1A	HP:0001942	Metabolic acidosis
6337	SCNN1A	HP:0004326	Cachexia
6337	SCNN1A	HP:0004308	Ventricular arrhythmia
6337	SCNN1A	HP:0012735	Cough
6337	SCNN1A	HP:0004469	Chronic bronchitis
6337	SCNN1A	HP:0000859	Hyperaldosteronism
6337	SCNN1A	HP:0000848	Increased circulating renin level
6337	SCNN1A	HP:0000841	Hyperactive renin-angiotensin system
6337	SCNN1A	HP:0000822	Hypertension
6337	SCNN1A	HP:0040085	Abnormal circulating aldosterone
6337	SCNN1A	HP:0030877	Reduced FEV1/FVC ratio
6337	SCNN1A	HP:0030828	Wheezing
6337	SCNN1A	HP:0030830	Crackles
6337	SCNN1A	HP:0011675	Arrhythmia
6337	SCNN1A	HP:0012251	ST segment elevation
6337	SCNN1A	HP:0012236	Elevated sweat chloride
6337	SCNN1A	HP:0001531	Failure to thrive in infancy
6337	SCNN1A	HP:0001508	Failure to thrive
6337	SCNN1A	HP:0012378	Fatigue
6337	SCNN1A	HP:0002902	Hyponatremia
6337	SCNN1A	HP:0002900	Hypokalemia
6337	SCNN1A	HP:0001695	Cardiac arrest
6337	SCNN1A	HP:0001649	Tachycardia
6337	SCNN1A	HP:0001663	Ventricular fibrillation
6337	SCNN1A	HP:0001658	Myocardial infarction
6337	SCNN1A	HP:0005376	Recurrent Haemophilus influenzae infections
6337	SCNN1A	HP:0011110	Recurrent tonsillitis
6337	SCNN1A	HP:0001824	Weight loss
6338	SCNN1B	HP:0100812	Halitosis
6338	SCNN1B	HP:0001217	Clubbing
6338	SCNN1B	HP:0000083	Renal insufficiency
6338	SCNN1B	HP:0008872	Feeding difficulties in infancy
6338	SCNN1B	HP:0012092	Abnormality of exocrine pancreas physiology
6338	SCNN1B	HP:0001324	Muscle weakness
6338	SCNN1B	HP:0000007	Autosomal recessive inheritance
6338	SCNN1B	HP:0000006	Autosomal dominant inheritance
6338	SCNN1B	HP:0002637	Cerebral ischemia
6338	SCNN1B	HP:0002615	Hypotension
6338	SCNN1B	HP:0031274	Hypovolemic shock
6338	SCNN1B	HP:0002783	Recurrent lower respiratory tract infections
6338	SCNN1B	HP:0002795	Abnormal respiratory system physiology
6338	SCNN1B	HP:0002754	Osteomyelitis
6338	SCNN1B	HP:0000112	Nephropathy
6338	SCNN1B	HP:0031245	Productive cough
6338	SCNN1B	HP:0003351	Decreased circulating renin level
6338	SCNN1B	HP:0002019	Constipation
6338	SCNN1B	HP:0002013	Vomiting
6338	SCNN1B	HP:0002097	Emphysema
6338	SCNN1B	HP:0002094	Dyspnea
6338	SCNN1B	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
6338	SCNN1B	HP:0002153	Hyperkalemia
6338	SCNN1B	HP:0002110	Bronchiectasis
6338	SCNN1B	HP:0002105	Hemoptysis
6338	SCNN1B	HP:0200114	Metabolic alkalosis
6338	SCNN1B	HP:0200117	Recurrent upper and lower respiratory tract infections
6338	SCNN1B	HP:0100749	Chest pain
6338	SCNN1B	HP:0011947	Respiratory tract infection
6338	SCNN1B	HP:0011949	Acute infectious pneumonia
6338	SCNN1B	HP:0003508	Proportionate short stature
6338	SCNN1B	HP:0001047	Atopic dermatitis
6338	SCNN1B	HP:0200039	Pustule
6338	SCNN1B	HP:0001081	Cholelithiasis
6338	SCNN1B	HP:0003623	Neonatal onset
6338	SCNN1B	HP:0001949	Hypokalemic alkalosis
6338	SCNN1B	HP:0001944	Dehydration
6338	SCNN1B	HP:0001945	Fever
6338	SCNN1B	HP:0001942	Metabolic acidosis
6338	SCNN1B	HP:0004319	Decreased circulating aldosterone level
6338	SCNN1B	HP:0004326	Cachexia
6338	SCNN1B	HP:0012735	Cough
6338	SCNN1B	HP:0004469	Chronic bronchitis
6338	SCNN1B	HP:0000859	Hyperaldosteronism
6338	SCNN1B	HP:0000848	Increased circulating renin level
6338	SCNN1B	HP:0000822	Hypertension
6338	SCNN1B	HP:0040085	Abnormal circulating aldosterone
6338	SCNN1B	HP:0030877	Reduced FEV1/FVC ratio
6338	SCNN1B	HP:0030828	Wheezing
6338	SCNN1B	HP:0030830	Crackles
6338	SCNN1B	HP:0011675	Arrhythmia
6338	SCNN1B	HP:0012236	Elevated sweat chloride
6338	SCNN1B	HP:0001531	Failure to thrive in infancy
6338	SCNN1B	HP:0012378	Fatigue
6338	SCNN1B	HP:0002902	Hyponatremia
6338	SCNN1B	HP:0002900	Hypokalemia
6338	SCNN1B	HP:0001658	Myocardial infarction
6338	SCNN1B	HP:0005376	Recurrent Haemophilus influenzae infections
6338	SCNN1B	HP:0011110	Recurrent tonsillitis
6338	SCNN1B	HP:0001824	Weight loss
6340	SCNN1G	HP:0100812	Halitosis
6340	SCNN1G	HP:0001217	Clubbing
6340	SCNN1G	HP:0000083	Renal insufficiency
6340	SCNN1G	HP:0008872	Feeding difficulties in infancy
6340	SCNN1G	HP:0001324	Muscle weakness
6340	SCNN1G	HP:0000007	Autosomal recessive inheritance
6340	SCNN1G	HP:0000006	Autosomal dominant inheritance
6340	SCNN1G	HP:0002637	Cerebral ischemia
6340	SCNN1G	HP:0031274	Hypovolemic shock
6340	SCNN1G	HP:0002783	Recurrent lower respiratory tract infections
6340	SCNN1G	HP:0002795	Abnormal respiratory system physiology
6340	SCNN1G	HP:0002754	Osteomyelitis
6340	SCNN1G	HP:0000112	Nephropathy
6340	SCNN1G	HP:0031245	Productive cough
6340	SCNN1G	HP:0003351	Decreased circulating renin level
6340	SCNN1G	HP:0002019	Constipation
6340	SCNN1G	HP:0002013	Vomiting
6340	SCNN1G	HP:0002097	Emphysema
6340	SCNN1G	HP:0002094	Dyspnea
6340	SCNN1G	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
6340	SCNN1G	HP:0002153	Hyperkalemia
6340	SCNN1G	HP:0002110	Bronchiectasis
6340	SCNN1G	HP:0002105	Hemoptysis
6340	SCNN1G	HP:0200114	Metabolic alkalosis
6340	SCNN1G	HP:0200117	Recurrent upper and lower respiratory tract infections
6340	SCNN1G	HP:0100749	Chest pain
6340	SCNN1G	HP:0011947	Respiratory tract infection
6340	SCNN1G	HP:0011949	Acute infectious pneumonia
6340	SCNN1G	HP:0003508	Proportionate short stature
6340	SCNN1G	HP:0001047	Atopic dermatitis
6340	SCNN1G	HP:0200039	Pustule
6340	SCNN1G	HP:0001081	Cholelithiasis
6340	SCNN1G	HP:0003623	Neonatal onset
6340	SCNN1G	HP:0003621	Juvenile onset
6340	SCNN1G	HP:0001944	Dehydration
6340	SCNN1G	HP:0001945	Fever
6340	SCNN1G	HP:0001942	Metabolic acidosis
6340	SCNN1G	HP:0004319	Decreased circulating aldosterone level
6340	SCNN1G	HP:0004326	Cachexia
6340	SCNN1G	HP:0012735	Cough
6340	SCNN1G	HP:0011462	Young adult onset
6340	SCNN1G	HP:0004469	Chronic bronchitis
6340	SCNN1G	HP:0000859	Hyperaldosteronism
6340	SCNN1G	HP:0000848	Increased circulating renin level
6340	SCNN1G	HP:0000822	Hypertension
6340	SCNN1G	HP:0040085	Abnormal circulating aldosterone
6340	SCNN1G	HP:0030877	Reduced FEV1/FVC ratio
6340	SCNN1G	HP:0030828	Wheezing
6340	SCNN1G	HP:0030830	Crackles
6340	SCNN1G	HP:0011675	Arrhythmia
6340	SCNN1G	HP:0001531	Failure to thrive in infancy
6340	SCNN1G	HP:0012378	Fatigue
6340	SCNN1G	HP:0002902	Hyponatremia
6340	SCNN1G	HP:0002900	Hypokalemia
6340	SCNN1G	HP:0001658	Myocardial infarction
6340	SCNN1G	HP:0005376	Recurrent Haemophilus influenzae infections
6340	SCNN1G	HP:0011110	Recurrent tonsillitis
6340	SCNN1G	HP:0001824	Weight loss
6341	SCO1	HP:0001290	Generalized hypotonia
6341	SCO1	HP:0001397	Hepatic steatosis
6341	SCO1	HP:0008872	Feeding difficulties in infancy
6341	SCO1	HP:0000007	Autosomal recessive inheritance
6341	SCO1	HP:0008936	Axial hypotonia
6341	SCO1	HP:0003348	Hyperalaninemia
6341	SCO1	HP:0002151	Increased serum lactate
6341	SCO1	HP:0002104	Apnea
6341	SCO1	HP:0002240	Hepatomegaly
6341	SCO1	HP:0008315	Decreased plasma free carnitine
6341	SCO1	HP:0001943	Hypoglycemia
6341	SCO1	HP:0001942	Metabolic acidosis
6341	SCO1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
6341	SCO1	HP:0031964	Elevated circulating alanine aminotransferase concentration
6341	SCO1	HP:0033092	Increased urine succinate level
6341	SCO1	HP:0001508	Failure to thrive
6341	SCO1	HP:0001511	Intrauterine growth retardation
6341	SCO1	HP:0001662	Bradycardia
6341	SCO1	HP:0001635	Congestive heart failure
6341	SCO1	HP:0001712	Left ventricular hypertrophy
6341	SCO1	HP:0001714	Ventricular hypertrophy
6341	SCO1	HP:0012444	Brain atrophy
6342	SCP2	HP:0002450	Abnormal motor neuron morphology
6342	SCP2	HP:0000027	Azoospermia
6342	SCP2	HP:0000007	Autosomal recessive inheritance
6342	SCP2	HP:0002080	Intention tremor
6342	SCP2	HP:0010663	Abnormality of thalamus morphology
6342	SCP2	HP:0002352	Leukoencephalopathy
6342	SCP2	HP:0002346	Head tremor
6342	SCP2	HP:0009830	Peripheral neuropathy
6342	SCP2	HP:0004409	Hyposmia
6342	SCP2	HP:0000815	Hypergonadotropic hypogonadism
6342	SCP2	HP:0000473	Torticollis
6342	SCP2	HP:0000570	Abnormal saccadic eye movements
6347	CCL2	HP:0002475	Myelomeningocele
6347	CCL2	HP:0012032	Lipoma
6347	CCL2	HP:0000020	Urinary incontinence
6347	CCL2	HP:0000006	Autosomal dominant inheritance
6347	CCL2	HP:0001012	Multiple lipomas
6347	CCL2	HP:0002323	Anencephaly
6347	CCL2	HP:0008482	Asymmetry of spinal facet joints
6347	CCL2	HP:0003298	Spina bifida occulta
6347	CCL2	HP:0010305	Absence of the sacrum
6347	CCL2	HP:0000960	Sacral dimple
6347	CCL2	HP:0000238	Hydrocephalus
6356	CCL11	HP:0000006	Autosomal dominant inheritance
6356	CCL11	HP:0001426	Multifactorial inheritance
6356	CCL11	HP:0002099	Asthma
6356	CCL11	HP:4000007	Bronchoconstriction
6356	CCL11	HP:0032933	Airway hyperresponsiveness
6389	SDHA	HP:0002490	Increased CSF lactate
6389	SDHA	HP:0002474	Expressive language delay
6389	SDHA	HP:0008629	Pulsatile tinnitus
6389	SDHA	HP:0007272	Progressive psychomotor deterioration
6389	SDHA	HP:0010864	Intellectual disability, severe
6389	SDHA	HP:0002421	Poor head control
6389	SDHA	HP:0002415	Leukodystrophy
6389	SDHA	HP:0003756	Skeletal myopathy
6389	SDHA	HP:0003701	Proximal muscle weakness
6389	SDHA	HP:0025269	Panic attack
6389	SDHA	HP:0001293	Cranial nerve compression
6389	SDHA	HP:0001290	Generalized hypotonia
6389	SDHA	HP:0001272	Cerebellar atrophy
6389	SDHA	HP:0001270	Motor delay
6389	SDHA	HP:0001288	Gait disturbance
6389	SDHA	HP:0001285	Spastic tetraparesis
6389	SDHA	HP:0100833	Neoplasm of the small intestine
6389	SDHA	HP:0001250	Seizure
6389	SDHA	HP:0001252	Hypotonia
6389	SDHA	HP:0001251	Ataxia
6389	SDHA	HP:0001260	Dysarthria
6389	SDHA	HP:0001263	Global developmental delay
6389	SDHA	HP:0001257	Spasticity
6389	SDHA	HP:0002574	Episodic abdominal pain
6389	SDHA	HP:0007400	Irregular hyperpigmentation
6389	SDHA	HP:0007378	Neoplasm of the gastrointestinal tract
6389	SDHA	HP:0007350	Hyperreflexia in upper limbs
6389	SDHA	HP:0002505	Loss of ambulation
6389	SDHA	HP:0000096	Glomerular sclerosis
6389	SDHA	HP:0000093	Proteinuria
6389	SDHA	HP:0001392	Abnormality of the liver
6389	SDHA	HP:0000076	Vesicoureteral reflux
6389	SDHA	HP:0001371	Flexion contracture
6389	SDHA	HP:0001347	Hyperreflexia
6389	SDHA	HP:0008872	Feeding difficulties in infancy
6389	SDHA	HP:0001332	Dystonia
6389	SDHA	HP:0001324	Muscle weakness
6389	SDHA	HP:0001342	Cerebral hemorrhage
6389	SDHA	HP:0000007	Autosomal recessive inheritance
6389	SDHA	HP:0002668	Paraganglioma
6389	SDHA	HP:0001337	Tremor
6389	SDHA	HP:0000006	Autosomal dominant inheritance
6389	SDHA	HP:0001336	Myoclonus
6389	SDHA	HP:0002640	Hypertension associated with pheochromocytoma
6389	SDHA	HP:0001319	Neonatal hypotonia
6389	SDHA	HP:0007663	Reduced visual acuity
6389	SDHA	HP:0008972	Decreased activity of mitochondrial respiratory chain
6389	SDHA	HP:0031284	Flushing
6389	SDHA	HP:0002018	Nausea
6389	SDHA	HP:0002019	Constipation
6389	SDHA	HP:0002017	Nausea and vomiting
6389	SDHA	HP:0003326	Myalgia
6389	SDHA	HP:0003345	Elevated urinary norepinephrine
6389	SDHA	HP:0002015	Dysphagia
6389	SDHA	HP:0003324	Generalized muscle weakness
6389	SDHA	HP:0100543	Cognitive impairment
6389	SDHA	HP:0002098	Respiratory distress
6389	SDHA	HP:0002066	Gait ataxia
6389	SDHA	HP:0002078	Truncal ataxia
6389	SDHA	HP:0002073	Progressive cerebellar ataxia
6389	SDHA	HP:0002070	Limb ataxia
6389	SDHA	HP:0003388	Easy fatigability
6389	SDHA	HP:0100578	Lipoatrophy
6389	SDHA	HP:0011703	Sinus tachycardia
6389	SDHA	HP:0003487	Babinski sign
6389	SDHA	HP:0002151	Increased serum lactate
6389	SDHA	HP:0002123	Generalized myoclonic seizure
6389	SDHA	HP:0003457	EMG abnormality
6389	SDHA	HP:0002104	Apnea
6389	SDHA	HP:0002172	Postural instability
6389	SDHA	HP:0010532	Paroxysmal vertigo
6389	SDHA	HP:0003596	Middle age onset
6389	SDHA	HP:0003593	Infantile onset
6389	SDHA	HP:0003574	Positive regitine blocking test
6389	SDHA	HP:0002239	Gastrointestinal hemorrhage
6389	SDHA	HP:0003546	Exercise intolerance
6389	SDHA	HP:0004897	Stress/infection-induced lactic acidosis
6389	SDHA	HP:0003528	Elevated calcitonin
6389	SDHA	HP:0003535	3-Methylglutaconic aciduria
6389	SDHA	HP:0009711	Retinal capillary hemangioma
6389	SDHA	HP:0100723	Gastrointestinal stroma tumor
6389	SDHA	HP:0100751	Esophageal neoplasm
6389	SDHA	HP:0100743	Neoplasm of the rectum
6389	SDHA	HP:0100749	Chest pain
6389	SDHA	HP:0007020	Progressive spastic paraplegia
6389	SDHA	HP:0011979	Elevated urinary dopamine
6389	SDHA	HP:0008314	Decreased activity of mitochondrial complex II
6389	SDHA	HP:0008316	Abnormal mitochondria in muscle tissue
6389	SDHA	HP:0003510	Severe short stature
6389	SDHA	HP:0003508	Proportionate short stature
6389	SDHA	HP:0007083	Hyperactive patellar reflex
6389	SDHA	HP:0001069	Episodic hyperhidrosis
6389	SDHA	HP:0003693	Distal amyotrophy
6389	SDHA	HP:0003690	Limb muscle weakness
6389	SDHA	HP:0002359	Frequent falls
6389	SDHA	HP:0002376	Developmental regression
6389	SDHA	HP:0002352	Leukoencephalopathy
6389	SDHA	HP:0002321	Vertigo
6389	SDHA	HP:0002317	Unsteady gait
6389	SDHA	HP:0002315	Headache
6389	SDHA	HP:0002313	Spastic paraparesis
6389	SDHA	HP:0002333	Motor deterioration
6389	SDHA	HP:0002331	Recurrent paroxysmal headache
6389	SDHA	HP:0009830	Peripheral neuropathy
6389	SDHA	HP:0001095	Hypertensive retinopathy
6389	SDHA	HP:0002312	Clumsiness
6389	SDHA	HP:0003639	Elevated urinary epinephrine
6389	SDHA	HP:0007183	Focal T2 hyperintense basal ganglia lesion
6389	SDHA	HP:0006801	Hyperactive deep tendon reflexes
6389	SDHA	HP:0005584	Renal cell carcinoma
6389	SDHA	HP:0006895	Lower limb hypertonia
6389	SDHA	HP:0000640	Gaze-evoked nystagmus
6389	SDHA	HP:0000639	Nystagmus
6389	SDHA	HP:0001962	Palpitations
6389	SDHA	HP:0000651	Diplopia
6389	SDHA	HP:0000648	Optic atrophy
6389	SDHA	HP:0000618	Blindness
6389	SDHA	HP:0001941	Acidosis
6389	SDHA	HP:0000602	Ophthalmoplegia
6389	SDHA	HP:0001903	Anemia
6389	SDHA	HP:0012664	Reduced left ventricular ejection fraction
6389	SDHA	HP:0011343	Moderate global developmental delay
6389	SDHA	HP:0004322	Short stature
6389	SDHA	HP:0006980	Progressive leukoencephalopathy
6389	SDHA	HP:0030682	Left ventricular noncompaction
6389	SDHA	HP:0003072	Hypercalcemia
6389	SDHA	HP:0034197	Third trimester onset
6389	SDHA	HP:0100022	Abnormality of movement
6389	SDHA	HP:0000737	Irritability
6389	SDHA	HP:0000740	Episodic paroxysmal anxiety
6389	SDHA	HP:0000716	Depression
6389	SDHA	HP:0000712	Emotional lability
6389	SDHA	HP:0000726	Dementia
6389	SDHA	HP:0000790	Hematuria
6389	SDHA	HP:0003198	Myopathy
6389	SDHA	HP:0012817	Noncompaction cardiomyopathy
6389	SDHA	HP:0003236	Elevated circulating creatine kinase concentration
6389	SDHA	HP:0003202	Skeletal muscle atrophy
6389	SDHA	HP:0003200	Ragged-red muscle fibers
6389	SDHA	HP:0000998	Hypertrichosis
6389	SDHA	HP:0000980	Pallor
6389	SDHA	HP:0100273	Neoplasm of the colon
6389	SDHA	HP:0000988	Skin rash
6389	SDHA	HP:0000982	Palmoplantar keratoderma
6389	SDHA	HP:0100242	Sarcoma
6389	SDHA	HP:0040196	Mild microcephaly
6389	SDHA	HP:0012240	Increased intramyocellular lipid droplets
6389	SDHA	HP:0006380	Knee flexion contracture
6389	SDHA	HP:0012222	Arachnoid hemangiomatosis
6389	SDHA	HP:0032653	Elevated lactate:pyruvate ratio
6389	SDHA	HP:0002864	Paraganglioma of head and neck
6389	SDHA	HP:0001508	Failure to thrive
6389	SDHA	HP:0001511	Intrauterine growth retardation
6389	SDHA	HP:0012378	Fatigue
6389	SDHA	HP:0006568	Increased hepatic glycogen content
6389	SDHA	HP:0005214	Intestinal obstruction
6389	SDHA	HP:0001605	Vocal cord paralysis
6389	SDHA	HP:0001618	Dysphonia
6389	SDHA	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
6389	SDHA	HP:0005150	Abnormal atrioventricular conduction
6389	SDHA	HP:0005162	Abnormal left ventricular function
6389	SDHA	HP:0000365	Hearing impairment
6389	SDHA	HP:0001686	Loss of voice
6389	SDHA	HP:0001644	Dilated cardiomyopathy
6389	SDHA	HP:0030149	Cardiogenic shock
6389	SDHA	HP:0001629	Ventricular septal defect
6389	SDHA	HP:0001626	Abnormality of the cardiovascular system
6389	SDHA	HP:0001640	Cardiomegaly
6389	SDHA	HP:0001639	Hypertrophic cardiomyopathy
6389	SDHA	HP:0001635	Congestive heart failure
6389	SDHA	HP:0001638	Cardiomyopathy
6389	SDHA	HP:0011166	Focal myoclonic seizure
6389	SDHA	HP:0007994	Peripheral visual field loss
6389	SDHA	HP:0000407	Sensorineural hearing impairment
6389	SDHA	HP:0000405	Conductive hearing impairment
6389	SDHA	HP:0001712	Left ventricular hypertrophy
6389	SDHA	HP:0000486	Strabismus
6389	SDHA	HP:0000478	Abnormality of the eye
6389	SDHA	HP:0006748	Adrenal pheochromocytoma
6389	SDHA	HP:0006753	Neoplasm of the stomach
6389	SDHA	HP:0006737	Extraadrenal pheochromocytoma
6389	SDHA	HP:0000526	Aniridia
6389	SDHA	HP:0001824	Weight loss
6389	SDHA	HP:0000508	Ptosis
6389	SDHA	HP:0000505	Visual impairment
6389	SDHA	HP:0000580	Pigmentary retinopathy
6389	SDHA	HP:0012534	Dysesthesia
6389	SDHA	HP:0001874	Abnormality of neutrophils
6389	SDHA	HP:0000544	External ophthalmoplegia
6390	SDHB	HP:0001176	Large hands
6390	SDHB	HP:0001156	Brachydactyly
6390	SDHB	HP:0002474	Expressive language delay
6390	SDHB	HP:0008629	Pulsatile tinnitus
6390	SDHB	HP:0007272	Progressive psychomotor deterioration
6390	SDHB	HP:0002421	Poor head control
6390	SDHB	HP:0003745	Sporadic
6390	SDHB	HP:0002415	Leukodystrophy
6390	SDHB	HP:0003756	Skeletal myopathy
6390	SDHB	HP:0003701	Proximal muscle weakness
6390	SDHB	HP:0025269	Panic attack
6390	SDHB	HP:0001293	Cranial nerve compression
6390	SDHB	HP:0001290	Generalized hypotonia
6390	SDHB	HP:0001270	Motor delay
6390	SDHB	HP:0001285	Spastic tetraparesis
6390	SDHB	HP:0100833	Neoplasm of the small intestine
6390	SDHB	HP:0001250	Seizure
6390	SDHB	HP:0001252	Hypotonia
6390	SDHB	HP:0001251	Ataxia
6390	SDHB	HP:0001249	Intellectual disability
6390	SDHB	HP:0001263	Global developmental delay
6390	SDHB	HP:0001257	Spasticity
6390	SDHB	HP:0002574	Episodic abdominal pain
6390	SDHB	HP:0007400	Irregular hyperpigmentation
6390	SDHB	HP:0007378	Neoplasm of the gastrointestinal tract
6390	SDHB	HP:0007350	Hyperreflexia in upper limbs
6390	SDHB	HP:0008675	Enlarged polycystic ovaries
6390	SDHB	HP:0002516	Increased intracranial pressure
6390	SDHB	HP:0002527	Falls
6390	SDHB	HP:0003829	Typified by incomplete penetrance
6390	SDHB	HP:0002505	Loss of ambulation
6390	SDHB	HP:0000096	Glomerular sclerosis
6390	SDHB	HP:0000093	Proteinuria
6390	SDHB	HP:0012062	Bone cyst
6390	SDHB	HP:0001392	Abnormality of the liver
6390	SDHB	HP:0000077	Abnormality of the kidney
6390	SDHB	HP:0000076	Vesicoureteral reflux
6390	SDHB	HP:0001371	Flexion contracture
6390	SDHB	HP:0012032	Lipoma
6390	SDHB	HP:0025336	Delayed ability to sit
6390	SDHB	HP:0000036	Abnormal penis morphology
6390	SDHB	HP:0025335	Delayed ability to stand
6390	SDHB	HP:0001347	Hyperreflexia
6390	SDHB	HP:0007565	Multiple cafe-au-lait spots
6390	SDHB	HP:0008872	Feeding difficulties in infancy
6390	SDHB	HP:0002664	Neoplasm
6390	SDHB	HP:0001332	Dystonia
6390	SDHB	HP:0001342	Cerebral hemorrhage
6390	SDHB	HP:0000007	Autosomal recessive inheritance
6390	SDHB	HP:0002668	Paraganglioma
6390	SDHB	HP:0001337	Tremor
6390	SDHB	HP:0000006	Autosomal dominant inheritance
6390	SDHB	HP:0002666	Pheochromocytoma
6390	SDHB	HP:0002640	Hypertension associated with pheochromocytoma
6390	SDHB	HP:0002650	Scoliosis
6390	SDHB	HP:0001317	Abnormal cerebellum morphology
6390	SDHB	HP:0000158	Macroglossia
6390	SDHB	HP:0001482	Subcutaneous nodule
6390	SDHB	HP:0012114	Endometrial carcinoma
6390	SDHB	HP:0007663	Reduced visual acuity
6390	SDHB	HP:0008936	Axial hypotonia
6390	SDHB	HP:0031284	Flushing
6390	SDHB	HP:0000130	Abnormality of the uterus
6390	SDHB	HP:0002018	Nausea
6390	SDHB	HP:0002019	Constipation
6390	SDHB	HP:0002017	Nausea and vomiting
6390	SDHB	HP:0002027	Abdominal pain
6390	SDHB	HP:0003345	Elevated urinary norepinephrine
6390	SDHB	HP:0002015	Dysphagia
6390	SDHB	HP:0003324	Generalized muscle weakness
6390	SDHB	HP:0100543	Cognitive impairment
6390	SDHB	HP:0003388	Easy fatigability
6390	SDHB	HP:0100579	Mucosal telangiectasiae
6390	SDHB	HP:0011703	Sinus tachycardia
6390	SDHB	HP:0003487	Babinski sign
6390	SDHB	HP:0002151	Increased serum lactate
6390	SDHB	HP:0002123	Generalized myoclonic seizure
6390	SDHB	HP:0010532	Paroxysmal vertigo
6390	SDHB	HP:0003593	Infantile onset
6390	SDHB	HP:0003577	Congenital onset
6390	SDHB	HP:0003574	Positive regitine blocking test
6390	SDHB	HP:0002239	Gastrointestinal hemorrhage
6390	SDHB	HP:0003581	Adult onset
6390	SDHB	HP:0003528	Elevated calcitonin
6390	SDHB	HP:0003542	Increased serum pyruvate
6390	SDHB	HP:0100780	Conjunctival hamartoma
6390	SDHB	HP:0009720	Adenoma sebaceum
6390	SDHB	HP:0009711	Retinal capillary hemangioma
6390	SDHB	HP:0100723	Gastrointestinal stroma tumor
6390	SDHB	HP:0100751	Esophageal neoplasm
6390	SDHB	HP:0100743	Neoplasm of the rectum
6390	SDHB	HP:0100749	Chest pain
6390	SDHB	HP:0011979	Elevated urinary dopamine
6390	SDHB	HP:0011976	Elevated urinary catecholamines
6390	SDHB	HP:0008314	Decreased activity of mitochondrial complex II
6390	SDHB	HP:0010614	Fibroma
6390	SDHB	HP:0003510	Severe short stature
6390	SDHB	HP:0003508	Proportionate short stature
6390	SDHB	HP:0007083	Hyperactive patellar reflex
6390	SDHB	HP:0001053	Hypopigmented skin patches
6390	SDHB	HP:0001048	Cavernous hemangioma
6390	SDHB	HP:0001067	Neurofibromas
6390	SDHB	HP:0001069	Episodic hyperhidrosis
6390	SDHB	HP:0003693	Distal amyotrophy
6390	SDHB	HP:0002359	Frequent falls
6390	SDHB	HP:0001028	Hemangioma
6390	SDHB	HP:0002376	Developmental regression
6390	SDHB	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6390	SDHB	HP:0001025	Urticaria
6390	SDHB	HP:0002313	Spastic paraparesis
6390	SDHB	HP:0002333	Motor deterioration
6390	SDHB	HP:0002331	Recurrent paroxysmal headache
6390	SDHB	HP:0200034	Papule
6390	SDHB	HP:0001095	Hypertensive retinopathy
6390	SDHB	HP:0200063	Colorectal polyposis
6390	SDHB	HP:0003639	Elevated urinary epinephrine
6390	SDHB	HP:0006824	Cranial nerve paralysis
6390	SDHB	HP:0006801	Hyperactive deep tendon reflexes
6390	SDHB	HP:0005595	Generalized hyperkeratosis
6390	SDHB	HP:0005584	Renal cell carcinoma
6390	SDHB	HP:0006895	Lower limb hypertonia
6390	SDHB	HP:0000639	Nystagmus
6390	SDHB	HP:0001962	Palpitations
6390	SDHB	HP:0000618	Blindness
6390	SDHB	HP:0001920	Renal artery stenosis
6390	SDHB	HP:0001903	Anemia
6390	SDHB	HP:0011343	Moderate global developmental delay
6390	SDHB	HP:0004322	Short stature
6390	SDHB	HP:0003002	Breast carcinoma
6390	SDHB	HP:0003001	Glomus jugular tumor
6390	SDHB	HP:0003072	Hypercalcemia
6390	SDHB	HP:0004390	Hamartomatous polyposis
6390	SDHB	HP:0003006	Neuroblastoma
6390	SDHB	HP:0031936	Delayed ability to walk
6390	SDHB	HP:0100006	Neoplasm of the central nervous system
6390	SDHB	HP:0000771	Gynecomastia
6390	SDHB	HP:0012733	Macule
6390	SDHB	HP:0012740	Papilloma
6390	SDHB	HP:0000767	Pectus excavatum
6390	SDHB	HP:0100031	Neoplasm of the thyroid gland
6390	SDHB	HP:0000737	Irritability
6390	SDHB	HP:0000750	Delayed speech and language development
6390	SDHB	HP:0000740	Episodic paroxysmal anxiety
6390	SDHB	HP:0012707	Elevated brain lactate level by MRS
6390	SDHB	HP:0000717	Autism
6390	SDHB	HP:0000726	Dementia
6390	SDHB	HP:0011463	Childhood onset
6390	SDHB	HP:0000790	Hematuria
6390	SDHB	HP:0000875	Episodic hypertension
6390	SDHB	HP:0000853	Goiter
6390	SDHB	HP:0012817	Noncompaction cardiomyopathy
6390	SDHB	HP:0000820	Abnormality of the thyroid gland
6390	SDHB	HP:0030890	Hyperintensity of cerebral white matter on MRI
6390	SDHB	HP:0003202	Skeletal muscle atrophy
6390	SDHB	HP:0000995	Melanocytic nevus
6390	SDHB	HP:0000980	Pallor
6390	SDHB	HP:0100273	Neoplasm of the colon
6390	SDHB	HP:0000975	Hyperhidrosis
6390	SDHB	HP:0000988	Skin rash
6390	SDHB	HP:0000982	Palmoplantar keratoderma
6390	SDHB	HP:0000957	Cafe-au-lait spot
6390	SDHB	HP:0000953	Hyperpigmentation of the skin
6390	SDHB	HP:0100242	Sarcoma
6390	SDHB	HP:0008069	Neoplasm of the skin
6390	SDHB	HP:0040196	Mild microcephaly
6390	SDHB	HP:0000256	Macrocephaly
6390	SDHB	HP:0030074	Chemodectoma
6390	SDHB	HP:0002808	Kyphosis
6390	SDHB	HP:0006380	Knee flexion contracture
6390	SDHB	HP:0000252	Microcephaly
6390	SDHB	HP:0012222	Arachnoid hemangiomatosis
6390	SDHB	HP:0000221	Furrowed tongue
6390	SDHB	HP:0000218	High palate
6390	SDHB	HP:0002861	Melanoma
6390	SDHB	HP:0002858	Meningioma
6390	SDHB	HP:0002864	Paraganglioma of head and neck
6390	SDHB	HP:0001508	Failure to thrive
6390	SDHB	HP:0001511	Intrauterine growth retardation
6390	SDHB	HP:0012378	Fatigue
6390	SDHB	HP:0005214	Intestinal obstruction
6390	SDHB	HP:0001605	Vocal cord paralysis
6390	SDHB	HP:0001618	Dysphonia
6390	SDHB	HP:0005150	Abnormal atrioventricular conduction
6390	SDHB	HP:0005162	Abnormal left ventricular function
6390	SDHB	HP:0000365	Hearing impairment
6390	SDHB	HP:0000360	Tinnitus
6390	SDHB	HP:0001649	Tachycardia
6390	SDHB	HP:0001626	Abnormality of the cardiovascular system
6390	SDHB	HP:0001639	Hypertrophic cardiomyopathy
6390	SDHB	HP:0001635	Congestive heart failure
6390	SDHB	HP:0011166	Focal myoclonic seizure
6390	SDHB	HP:0005374	Cellular immunodeficiency
6390	SDHB	HP:0000405	Conductive hearing impairment
6390	SDHB	HP:0001712	Left ventricular hypertrophy
6390	SDHB	HP:0000478	Abnormality of the eye
6390	SDHB	HP:0012402	Increased urine alpha-ketoglutarate concentration
6390	SDHB	HP:0006748	Adrenal pheochromocytoma
6390	SDHB	HP:0006753	Neoplasm of the stomach
6390	SDHB	HP:0006737	Extraadrenal pheochromocytoma
6390	SDHB	HP:0006731	Follicular thyroid carcinoma
6390	SDHB	HP:0000518	Cataract
6390	SDHB	HP:0000519	Developmental cataract
6390	SDHB	HP:0000526	Aniridia
6390	SDHB	HP:0001824	Weight loss
6390	SDHB	HP:0000580	Pigmentary retinopathy
6390	SDHB	HP:0000545	Myopia
6390	SDHB	HP:0000544	External ophthalmoplegia
6391	SDHC	HP:0001176	Large hands
6391	SDHC	HP:0001156	Brachydactyly
6391	SDHC	HP:0008629	Pulsatile tinnitus
6391	SDHC	HP:0003745	Sporadic
6391	SDHC	HP:0025269	Panic attack
6391	SDHC	HP:0001293	Cranial nerve compression
6391	SDHC	HP:0100833	Neoplasm of the small intestine
6391	SDHC	HP:0001250	Seizure
6391	SDHC	HP:0001251	Ataxia
6391	SDHC	HP:0001249	Intellectual disability
6391	SDHC	HP:0001263	Global developmental delay
6391	SDHC	HP:0002574	Episodic abdominal pain
6391	SDHC	HP:0007400	Irregular hyperpigmentation
6391	SDHC	HP:0007378	Neoplasm of the gastrointestinal tract
6391	SDHC	HP:0008675	Enlarged polycystic ovaries
6391	SDHC	HP:0002516	Increased intracranial pressure
6391	SDHC	HP:0000096	Glomerular sclerosis
6391	SDHC	HP:0000093	Proteinuria
6391	SDHC	HP:0012062	Bone cyst
6391	SDHC	HP:0001392	Abnormality of the liver
6391	SDHC	HP:0000077	Abnormality of the kidney
6391	SDHC	HP:0012032	Lipoma
6391	SDHC	HP:0000036	Abnormal penis morphology
6391	SDHC	HP:0007565	Multiple cafe-au-lait spots
6391	SDHC	HP:0002664	Neoplasm
6391	SDHC	HP:0001342	Cerebral hemorrhage
6391	SDHC	HP:0002668	Paraganglioma
6391	SDHC	HP:0001337	Tremor
6391	SDHC	HP:0000006	Autosomal dominant inheritance
6391	SDHC	HP:0002640	Hypertension associated with pheochromocytoma
6391	SDHC	HP:0002650	Scoliosis
6391	SDHC	HP:0001317	Abnormal cerebellum morphology
6391	SDHC	HP:0000158	Macroglossia
6391	SDHC	HP:0001482	Subcutaneous nodule
6391	SDHC	HP:0012114	Endometrial carcinoma
6391	SDHC	HP:0031284	Flushing
6391	SDHC	HP:0000130	Abnormality of the uterus
6391	SDHC	HP:0002018	Nausea
6391	SDHC	HP:0002019	Constipation
6391	SDHC	HP:0002017	Nausea and vomiting
6391	SDHC	HP:0002027	Abdominal pain
6391	SDHC	HP:0003334	Elevated circulating catecholamine level
6391	SDHC	HP:0003345	Elevated urinary norepinephrine
6391	SDHC	HP:0002015	Dysphagia
6391	SDHC	HP:0100543	Cognitive impairment
6391	SDHC	HP:0100579	Mucosal telangiectasiae
6391	SDHC	HP:0011703	Sinus tachycardia
6391	SDHC	HP:0010532	Paroxysmal vertigo
6391	SDHC	HP:0003574	Positive regitine blocking test
6391	SDHC	HP:0002239	Gastrointestinal hemorrhage
6391	SDHC	HP:0003581	Adult onset
6391	SDHC	HP:0003528	Elevated calcitonin
6391	SDHC	HP:0100780	Conjunctival hamartoma
6391	SDHC	HP:0009720	Adenoma sebaceum
6391	SDHC	HP:0009711	Retinal capillary hemangioma
6391	SDHC	HP:0100723	Gastrointestinal stroma tumor
6391	SDHC	HP:0100751	Esophageal neoplasm
6391	SDHC	HP:0100743	Neoplasm of the rectum
6391	SDHC	HP:0100749	Chest pain
6391	SDHC	HP:0011979	Elevated urinary dopamine
6391	SDHC	HP:0010614	Fibroma
6391	SDHC	HP:0001053	Hypopigmented skin patches
6391	SDHC	HP:0001048	Cavernous hemangioma
6391	SDHC	HP:0001067	Neurofibromas
6391	SDHC	HP:0001069	Episodic hyperhidrosis
6391	SDHC	HP:0001025	Urticaria
6391	SDHC	HP:0002331	Recurrent paroxysmal headache
6391	SDHC	HP:0200034	Papule
6391	SDHC	HP:0001095	Hypertensive retinopathy
6391	SDHC	HP:0200063	Colorectal polyposis
6391	SDHC	HP:0003639	Elevated urinary epinephrine
6391	SDHC	HP:0006824	Cranial nerve paralysis
6391	SDHC	HP:0005595	Generalized hyperkeratosis
6391	SDHC	HP:0005584	Renal cell carcinoma
6391	SDHC	HP:0001962	Palpitations
6391	SDHC	HP:0001903	Anemia
6391	SDHC	HP:0004322	Short stature
6391	SDHC	HP:0003002	Breast carcinoma
6391	SDHC	HP:0003001	Glomus jugular tumor
6391	SDHC	HP:0003072	Hypercalcemia
6391	SDHC	HP:0004390	Hamartomatous polyposis
6391	SDHC	HP:0100006	Neoplasm of the central nervous system
6391	SDHC	HP:0000771	Gynecomastia
6391	SDHC	HP:0012733	Macule
6391	SDHC	HP:0012740	Papilloma
6391	SDHC	HP:0000767	Pectus excavatum
6391	SDHC	HP:0100031	Neoplasm of the thyroid gland
6391	SDHC	HP:0000740	Episodic paroxysmal anxiety
6391	SDHC	HP:0000717	Autism
6391	SDHC	HP:0000790	Hematuria
6391	SDHC	HP:0000853	Goiter
6391	SDHC	HP:0000820	Abnormality of the thyroid gland
6391	SDHC	HP:0000995	Melanocytic nevus
6391	SDHC	HP:0000980	Pallor
6391	SDHC	HP:0100273	Neoplasm of the colon
6391	SDHC	HP:0000975	Hyperhidrosis
6391	SDHC	HP:0000988	Skin rash
6391	SDHC	HP:0000982	Palmoplantar keratoderma
6391	SDHC	HP:0000953	Hyperpigmentation of the skin
6391	SDHC	HP:0100242	Sarcoma
6391	SDHC	HP:0008069	Neoplasm of the skin
6391	SDHC	HP:0000256	Macrocephaly
6391	SDHC	HP:0030074	Chemodectoma
6391	SDHC	HP:0002808	Kyphosis
6391	SDHC	HP:0012222	Arachnoid hemangiomatosis
6391	SDHC	HP:0000221	Furrowed tongue
6391	SDHC	HP:0000218	High palate
6391	SDHC	HP:0002861	Melanoma
6391	SDHC	HP:0002858	Meningioma
6391	SDHC	HP:0002864	Paraganglioma of head and neck
6391	SDHC	HP:0001508	Failure to thrive
6391	SDHC	HP:0012378	Fatigue
6391	SDHC	HP:0005214	Intestinal obstruction
6391	SDHC	HP:0001609	Hoarse voice
6391	SDHC	HP:0001605	Vocal cord paralysis
6391	SDHC	HP:0001618	Dysphonia
6391	SDHC	HP:0000365	Hearing impairment
6391	SDHC	HP:0000360	Tinnitus
6391	SDHC	HP:0001686	Loss of voice
6391	SDHC	HP:0001649	Tachycardia
6391	SDHC	HP:0001635	Congestive heart failure
6391	SDHC	HP:0005374	Cellular immunodeficiency
6391	SDHC	HP:0000405	Conductive hearing impairment
6391	SDHC	HP:0006748	Adrenal pheochromocytoma
6391	SDHC	HP:0006753	Neoplasm of the stomach
6391	SDHC	HP:0006737	Extraadrenal pheochromocytoma
6391	SDHC	HP:0006731	Follicular thyroid carcinoma
6391	SDHC	HP:0000518	Cataract
6391	SDHC	HP:0000526	Aniridia
6391	SDHC	HP:0001824	Weight loss
6391	SDHC	HP:0000545	Myopia
6392	SDHD	HP:0001156	Brachydactyly
6392	SDHD	HP:0002474	Expressive language delay
6392	SDHD	HP:0008629	Pulsatile tinnitus
6392	SDHD	HP:0009926	Epiphora
6392	SDHD	HP:0025169	Left ventricular systolic dysfunction
6392	SDHD	HP:0007272	Progressive psychomotor deterioration
6392	SDHD	HP:0002421	Poor head control
6392	SDHD	HP:0003756	Skeletal myopathy
6392	SDHD	HP:0003701	Proximal muscle weakness
6392	SDHD	HP:0025269	Panic attack
6392	SDHD	HP:0001293	Cranial nerve compression
6392	SDHD	HP:0001290	Generalized hypotonia
6392	SDHD	HP:0001270	Motor delay
6392	SDHD	HP:0001285	Spastic tetraparesis
6392	SDHD	HP:0001250	Seizure
6392	SDHD	HP:0001252	Hypotonia
6392	SDHD	HP:0001251	Ataxia
6392	SDHD	HP:0001249	Intellectual disability
6392	SDHD	HP:0001263	Global developmental delay
6392	SDHD	HP:0001257	Spasticity
6392	SDHD	HP:0002574	Episodic abdominal pain
6392	SDHD	HP:0007380	Facial telangiectasia
6392	SDHD	HP:0007378	Neoplasm of the gastrointestinal tract
6392	SDHD	HP:0007350	Hyperreflexia in upper limbs
6392	SDHD	HP:0008675	Enlarged polycystic ovaries
6392	SDHD	HP:0002516	Increased intracranial pressure
6392	SDHD	HP:0002505	Loss of ambulation
6392	SDHD	HP:0003811	Neonatal death
6392	SDHD	HP:0000096	Glomerular sclerosis
6392	SDHD	HP:0000093	Proteinuria
6392	SDHD	HP:0012062	Bone cyst
6392	SDHD	HP:0000077	Abnormality of the kidney
6392	SDHD	HP:0000076	Vesicoureteral reflux
6392	SDHD	HP:0012043	Pendular nystagmus
6392	SDHD	HP:0012032	Lipoma
6392	SDHD	HP:0000036	Abnormal penis morphology
6392	SDHD	HP:0007565	Multiple cafe-au-lait spots
6392	SDHD	HP:0008872	Feeding difficulties in infancy
6392	SDHD	HP:0002664	Neoplasm
6392	SDHD	HP:0001332	Dystonia
6392	SDHD	HP:0001342	Cerebral hemorrhage
6392	SDHD	HP:0000007	Autosomal recessive inheritance
6392	SDHD	HP:0002668	Paraganglioma
6392	SDHD	HP:0001337	Tremor
6392	SDHD	HP:0000006	Autosomal dominant inheritance
6392	SDHD	HP:0002666	Pheochromocytoma
6392	SDHD	HP:0001336	Myoclonus
6392	SDHD	HP:0002640	Hypertension associated with pheochromocytoma
6392	SDHD	HP:0002650	Scoliosis
6392	SDHD	HP:0001317	Abnormal cerebellum morphology
6392	SDHD	HP:0031138	Abnormal B-type natriuretic peptide concentration
6392	SDHD	HP:0002605	Hepatic necrosis
6392	SDHD	HP:0025474	Erythematous plaque
6392	SDHD	HP:0000158	Macroglossia
6392	SDHD	HP:0001482	Subcutaneous nodule
6392	SDHD	HP:0012114	Endometrial carcinoma
6392	SDHD	HP:0025428	Bronchospasm
6392	SDHD	HP:0007663	Reduced visual acuity
6392	SDHD	HP:0031284	Flushing
6392	SDHD	HP:0000130	Abnormality of the uterus
6392	SDHD	HP:0002730	Chronic noninfectious lymphadenopathy
6392	SDHD	HP:0002018	Nausea
6392	SDHD	HP:0002017	Nausea and vomiting
6392	SDHD	HP:0002027	Abdominal pain
6392	SDHD	HP:0003334	Elevated circulating catecholamine level
6392	SDHD	HP:0003345	Elevated urinary norepinephrine
6392	SDHD	HP:0002015	Dysphagia
6392	SDHD	HP:0003324	Generalized muscle weakness
6392	SDHD	HP:0100543	Cognitive impairment
6392	SDHD	HP:0002099	Asthma
6392	SDHD	HP:0003388	Easy fatigability
6392	SDHD	HP:0100570	Carcinoid tumor
6392	SDHD	HP:0100579	Mucosal telangiectasiae
6392	SDHD	HP:0011703	Sinus tachycardia
6392	SDHD	HP:0003487	Babinski sign
6392	SDHD	HP:0002123	Generalized myoclonic seizure
6392	SDHD	HP:0010532	Paroxysmal vertigo
6392	SDHD	HP:0003596	Middle age onset
6392	SDHD	HP:0003593	Infantile onset
6392	SDHD	HP:0003574	Positive regitine blocking test
6392	SDHD	HP:0002240	Hepatomegaly
6392	SDHD	HP:0002239	Gastrointestinal hemorrhage
6392	SDHD	HP:0003584	Late onset
6392	SDHD	HP:0003528	Elevated calcitonin
6392	SDHD	HP:0100780	Conjunctival hamartoma
6392	SDHD	HP:0009720	Adenoma sebaceum
6392	SDHD	HP:0009711	Retinal capillary hemangioma
6392	SDHD	HP:0100723	Gastrointestinal stroma tumor
6392	SDHD	HP:0100749	Chest pain
6392	SDHD	HP:0011979	Elevated urinary dopamine
6392	SDHD	HP:0011968	Feeding difficulties
6392	SDHD	HP:0011951	Aspiration pneumonia
6392	SDHD	HP:0008314	Decreased activity of mitochondrial complex II
6392	SDHD	HP:0010614	Fibroma
6392	SDHD	HP:0003510	Severe short stature
6392	SDHD	HP:0003508	Proportionate short stature
6392	SDHD	HP:0007083	Hyperactive patellar reflex
6392	SDHD	HP:0001053	Hypopigmented skin patches
6392	SDHD	HP:0001048	Cavernous hemangioma
6392	SDHD	HP:0001069	Episodic hyperhidrosis
6392	SDHD	HP:0003693	Distal amyotrophy
6392	SDHD	HP:0002359	Frequent falls
6392	SDHD	HP:0001028	Hemangioma
6392	SDHD	HP:0002376	Developmental regression
6392	SDHD	HP:0003648	Lacticaciduria
6392	SDHD	HP:0002313	Spastic paraparesis
6392	SDHD	HP:0002333	Motor deterioration
6392	SDHD	HP:0002331	Recurrent paroxysmal headache
6392	SDHD	HP:0200034	Papule
6392	SDHD	HP:0001095	Hypertensive retinopathy
6392	SDHD	HP:0200063	Colorectal polyposis
6392	SDHD	HP:0100635	Carotid paraganglioma
6392	SDHD	HP:0003639	Elevated urinary epinephrine
6392	SDHD	HP:0003621	Juvenile onset
6392	SDHD	HP:0006824	Cranial nerve paralysis
6392	SDHD	HP:0006801	Hyperactive deep tendon reflexes
6392	SDHD	HP:0005595	Generalized hyperkeratosis
6392	SDHD	HP:0005584	Renal cell carcinoma
6392	SDHD	HP:0006895	Lower limb hypertonia
6392	SDHD	HP:0000639	Nystagmus
6392	SDHD	HP:0001962	Palpitations
6392	SDHD	HP:0000618	Blindness
6392	SDHD	HP:0001920	Renal artery stenosis
6392	SDHD	HP:0011343	Moderate global developmental delay
6392	SDHD	HP:0004322	Short stature
6392	SDHD	HP:0003002	Breast carcinoma
6392	SDHD	HP:0003001	Glomus jugular tumor
6392	SDHD	HP:0030682	Left ventricular noncompaction
6392	SDHD	HP:0003072	Hypercalcemia
6392	SDHD	HP:0004385	Protracted diarrhea
6392	SDHD	HP:0004390	Hamartomatous polyposis
6392	SDHD	HP:0100006	Neoplasm of the central nervous system
6392	SDHD	HP:0000771	Gynecomastia
6392	SDHD	HP:0012733	Macule
6392	SDHD	HP:0012740	Papilloma
6392	SDHD	HP:0000767	Pectus excavatum
6392	SDHD	HP:0100031	Neoplasm of the thyroid gland
6392	SDHD	HP:0000737	Irritability
6392	SDHD	HP:0000740	Episodic paroxysmal anxiety
6392	SDHD	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
6392	SDHD	HP:0000717	Autism
6392	SDHD	HP:0000726	Dementia
6392	SDHD	HP:0011462	Young adult onset
6392	SDHD	HP:0011461	Fetal onset
6392	SDHD	HP:0000790	Hematuria
6392	SDHD	HP:0003198	Myopathy
6392	SDHD	HP:0003128	Lactic acidosis
6392	SDHD	HP:0003144	Increased serum serotonin
6392	SDHD	HP:0000875	Episodic hypertension
6392	SDHD	HP:0000853	Goiter
6392	SDHD	HP:0012817	Noncompaction cardiomyopathy
6392	SDHD	HP:0000820	Abnormality of the thyroid gland
6392	SDHD	HP:0003202	Skeletal muscle atrophy
6392	SDHD	HP:0000995	Melanocytic nevus
6392	SDHD	HP:0000980	Pallor
6392	SDHD	HP:0000975	Hyperhidrosis
6392	SDHD	HP:0000982	Palmoplantar keratoderma
6392	SDHD	HP:0000957	Cafe-au-lait spot
6392	SDHD	HP:0008069	Neoplasm of the skin
6392	SDHD	HP:0040196	Mild microcephaly
6392	SDHD	HP:0000256	Macrocephaly
6392	SDHD	HP:0031417	Rhinorrhea
6392	SDHD	HP:0030074	Chemodectoma
6392	SDHD	HP:0002808	Kyphosis
6392	SDHD	HP:0006380	Knee flexion contracture
6392	SDHD	HP:0012222	Arachnoid hemangiomatosis
6392	SDHD	HP:0000221	Furrowed tongue
6392	SDHD	HP:0000218	High palate
6392	SDHD	HP:0002886	Vagal paraganglioma
6392	SDHD	HP:0002861	Melanoma
6392	SDHD	HP:0002858	Meningioma
6392	SDHD	HP:0002864	Paraganglioma of head and neck
6392	SDHD	HP:0001508	Failure to thrive
6392	SDHD	HP:0001511	Intrauterine growth retardation
6392	SDHD	HP:0012378	Fatigue
6392	SDHD	HP:0005214	Intestinal obstruction
6392	SDHD	HP:0001609	Hoarse voice
6392	SDHD	HP:0001605	Vocal cord paralysis
6392	SDHD	HP:0001618	Dysphonia
6392	SDHD	HP:0002919	Ketonuria
6392	SDHD	HP:0002910	Elevated hepatic transaminase
6392	SDHD	HP:0005180	Tricuspid regurgitation
6392	SDHD	HP:0005150	Abnormal atrioventricular conduction
6392	SDHD	HP:0005162	Abnormal left ventricular function
6392	SDHD	HP:0000365	Hearing impairment
6392	SDHD	HP:0000360	Tinnitus
6392	SDHD	HP:0001686	Loss of voice
6392	SDHD	HP:0001649	Tachycardia
6392	SDHD	HP:0001644	Dilated cardiomyopathy
6392	SDHD	HP:0030148	Heart murmur
6392	SDHD	HP:0030145	Lack of bowel sounds
6392	SDHD	HP:0001653	Mitral regurgitation
6392	SDHD	HP:0001655	Patent foramen ovale
6392	SDHD	HP:0001626	Abnormality of the cardiovascular system
6392	SDHD	HP:0030166	Night sweats
6392	SDHD	HP:0001639	Hypertrophic cardiomyopathy
6392	SDHD	HP:0001635	Congestive heart failure
6392	SDHD	HP:0011166	Focal myoclonic seizure
6392	SDHD	HP:0005374	Cellular immunodeficiency
6392	SDHD	HP:0000405	Conductive hearing impairment
6392	SDHD	HP:0001708	Right ventricular failure
6392	SDHD	HP:0001712	Left ventricular hypertrophy
6392	SDHD	HP:0000478	Abnormality of the eye
6392	SDHD	HP:0006748	Adrenal pheochromocytoma
6392	SDHD	HP:0006737	Extraadrenal pheochromocytoma
6392	SDHD	HP:0006731	Follicular thyroid carcinoma
6392	SDHD	HP:0006715	Glomus tympanicum paraganglioma
6392	SDHD	HP:0006722	Small intestine carcinoid
6392	SDHD	HP:0006723	Intestinal carcinoid
6392	SDHD	HP:0030446	Atypical pulmonary carcinoid tumor
6392	SDHD	HP:0030445	Pulmonary carcinoid tumor
6392	SDHD	HP:0005484	Secondary microcephaly
6392	SDHD	HP:0000518	Cataract
6392	SDHD	HP:0000519	Developmental cataract
6392	SDHD	HP:0000526	Aniridia
6392	SDHD	HP:0001824	Weight loss
6392	SDHD	HP:0000505	Visual impairment
6392	SDHD	HP:0000580	Pigmentary retinopathy
6392	SDHD	HP:0000543	Optic disc pallor
6392	SDHD	HP:0000545	Myopia
6392	SDHD	HP:0000544	External ophthalmoplegia
6399	TRAPPC2	HP:0025131	Finger swelling
6399	TRAPPC2	HP:0025263	Stiff knee
6399	TRAPPC2	HP:0100864	Short femoral neck
6399	TRAPPC2	HP:0003855	Spurred metaphyses of the upper limbs
6399	TRAPPC2	HP:0003832	Abnormality of the tibial plateaux
6399	TRAPPC2	HP:0008812	Flattened femoral head
6399	TRAPPC2	HP:0001376	Limitation of joint mobility
6399	TRAPPC2	HP:0001386	Joint swelling
6399	TRAPPC2	HP:0006233	Osteoarthritis of the distal interphalangeal joint
6399	TRAPPC2	HP:0008897	Postnatal growth retardation
6399	TRAPPC2	HP:0008843	Hip osteoarthritis
6399	TRAPPC2	HP:0002654	Multiple epiphyseal dysplasia
6399	TRAPPC2	HP:0002655	Spondyloepiphyseal dysplasia
6399	TRAPPC2	HP:0002650	Scoliosis
6399	TRAPPC2	HP:0000175	Cleft palate
6399	TRAPPC2	HP:0006248	Limited wrist movement
6399	TRAPPC2	HP:0002763	Abnormal cartilage morphology
6399	TRAPPC2	HP:0002751	Kyphoscoliosis
6399	TRAPPC2	HP:0001419	X-linked recessive inheritance
6399	TRAPPC2	HP:0003365	Arthralgia of the hip
6399	TRAPPC2	HP:0003311	Hypoplasia of the odontoid process
6399	TRAPPC2	HP:0004637	Decreased cervical spine mobility
6399	TRAPPC2	HP:0100569	Abnormally ossified vertebrae
6399	TRAPPC2	HP:0003418	Back pain
6399	TRAPPC2	HP:0003401	Paresthesia
6399	TRAPPC2	HP:0010575	Dysplasia of the femoral head
6399	TRAPPC2	HP:0010582	Irregular epiphyses
6399	TRAPPC2	HP:0100712	Abnormal lumbar spine morphology
6399	TRAPPC2	HP:0100769	Synovitis
6399	TRAPPC2	HP:0010656	Abnormal epiphyseal ossification
6399	TRAPPC2	HP:0003521	Disproportionate short-trunk short stature
6399	TRAPPC2	HP:0009763	Limb pain
6399	TRAPPC2	HP:0003621	Juvenile onset
6399	TRAPPC2	HP:0012649	Increased inflammatory response
6399	TRAPPC2	HP:0003088	Premature osteoarthritis
6399	TRAPPC2	HP:0003051	Enlarged metaphyses
6399	TRAPPC2	HP:0003043	Abnormal shoulder morphology
6399	TRAPPC2	HP:0012771	Increased arm span
6399	TRAPPC2	HP:0005775	Multiple skeletal anomalies
6399	TRAPPC2	HP:0000914	Shield chest
6399	TRAPPC2	HP:0000926	Platyspondyly
6399	TRAPPC2	HP:0003090	Hypoplasia of the capital femoral epiphysis
6399	TRAPPC2	HP:0010231	Enlarged epiphyses of the phalanges of the hand
6399	TRAPPC2	HP:0004586	Biconcave vertebral bodies
6399	TRAPPC2	HP:0030839	Knee pain
6399	TRAPPC2	HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate
6399	TRAPPC2	HP:0040161	Localized osteoporosis
6399	TRAPPC2	HP:0006467	Limited shoulder movement
6399	TRAPPC2	HP:0007759	Opacification of the corneal stroma
6399	TRAPPC2	HP:0002812	Coxa vara
6399	TRAPPC2	HP:0002829	Arthralgia
6399	TRAPPC2	HP:0005086	Knee osteoarthritis
6399	TRAPPC2	HP:0002808	Kyphosis
6399	TRAPPC2	HP:0001552	Barrel-shaped chest
6399	TRAPPC2	HP:0002866	Hypoplastic iliac wing
6399	TRAPPC2	HP:0001508	Failure to thrive
6399	TRAPPC2	HP:0002938	Lumbar hyperlordosis
6399	TRAPPC2	HP:0002945	Intervertebral space narrowing
6399	TRAPPC2	HP:0002942	Thoracic kyphosis
6399	TRAPPC2	HP:0011001	Increased bone mineral density
6399	TRAPPC2	HP:0002996	Limited elbow movement
6399	TRAPPC2	HP:0002960	Autoimmunity
6399	TRAPPC2	HP:0000470	Short neck
6399	TRAPPC2	HP:0000541	Retinal detachment
6418	SET	HP:0002465	Poor speech
6418	SET	HP:0001250	Seizure
6418	SET	HP:0001252	Hypotonia
6418	SET	HP:0001249	Intellectual disability
6418	SET	HP:0001263	Global developmental delay
6418	SET	HP:0007429	Few cafe-au-lait spots
6418	SET	HP:0002527	Falls
6418	SET	HP:0001382	Joint hypermobility
6418	SET	HP:0000023	Inguinal hernia
6418	SET	HP:0001348	Brisk reflexes
6418	SET	HP:0001357	Plagiocephaly
6418	SET	HP:0000006	Autosomal dominant inheritance
6418	SET	HP:0000176	Submucous cleft hard palate
6418	SET	HP:0000154	Wide mouth
6418	SET	HP:0008936	Axial hypotonia
6418	SET	HP:0011937	Hypoplastic fifth toenail
6418	SET	HP:0003593	Infantile onset
6418	SET	HP:0011968	Feeding difficulties
6418	SET	HP:0010808	Protruding tongue
6418	SET	HP:0002311	Incoordination
6418	SET	HP:0000678	Dental crowding
6418	SET	HP:0004322	Short stature
6418	SET	HP:0031936	Delayed ability to walk
6418	SET	HP:0000750	Delayed speech and language development
6418	SET	HP:0003186	Inverted nipples
6418	SET	HP:0000954	Single transverse palmar crease
6418	SET	HP:0000297	Facial hypotonia
6418	SET	HP:0000252	Microcephaly
6418	SET	HP:0000218	High palate
6418	SET	HP:0000358	Posteriorly rotated ears
6418	SET	HP:0000316	Hypertelorism
6418	SET	HP:0000331	Short chin
6418	SET	HP:0000324	Facial asymmetry
6418	SET	HP:0000307	Pointed chin
6418	SET	HP:0000400	Macrotia
6418	SET	HP:0000486	Strabismus
6418	SET	HP:0012471	Thick vermilion border
6418	SET	HP:0000494	Downslanted palpebral fissures
6418	SET	HP:0000455	Broad nasal tip
6418	SET	HP:0000431	Wide nasal bridge
6424	SFRP4	HP:0001377	Limited elbow extension
6424	SFRP4	HP:0002684	Thickened calvaria
6424	SFRP4	HP:0002689	Absent paranasal sinuses
6424	SFRP4	HP:0001324	Muscle weakness
6424	SFRP4	HP:0000007	Autosomal recessive inheritance
6424	SFRP4	HP:0002650	Scoliosis
6424	SFRP4	HP:0006335	Persistence of primary teeth
6424	SFRP4	HP:0002753	Thin bony cortex
6424	SFRP4	HP:0002738	Hypoplastic frontal sinuses
6424	SFRP4	HP:0003581	Adult onset
6424	SFRP4	HP:0003621	Juvenile onset
6424	SFRP4	HP:0000684	Delayed eruption of teeth
6424	SFRP4	HP:0000670	Carious teeth
6424	SFRP4	HP:0003016	Metaphyseal widening
6424	SFRP4	HP:0004349	Reduced bone mineral density
6424	SFRP4	HP:0000765	Abnormal thorax morphology
6424	SFRP4	HP:0011463	Childhood onset
6424	SFRP4	HP:0000926	Platyspondyly
6424	SFRP4	HP:0100255	Metaphyseal dysplasia
6424	SFRP4	HP:0002829	Arthralgia
6424	SFRP4	HP:0002857	Genu valgum
6424	SFRP4	HP:0002967	Cubitus valgus
6424	SFRP4	HP:0000303	Mandibular prognathia
6427	SRSF2	HP:0025142	Constitutional symptom
6427	SRSF2	HP:0001279	Syncope
6427	SRSF2	HP:0100845	Anaphylactic shock
6427	SRSF2	HP:0031020	Bone marrow hypercellularity
6427	SRSF2	HP:0002659	Increased susceptibility to fractures
6427	SRSF2	HP:0002665	Lymphoma
6427	SRSF2	HP:0002653	Bone pain
6427	SRSF2	HP:0002615	Hypotension
6427	SRSF2	HP:0012138	Granulocytic hyperplasia
6427	SRSF2	HP:0002797	Osteolysis
6427	SRSF2	HP:0031284	Flushing
6427	SRSF2	HP:0002756	Pathologic fracture
6427	SRSF2	HP:0001433	Hepatosplenomegaly
6427	SRSF2	HP:0001410	Decreased liver function
6427	SRSF2	HP:0001409	Portal hypertension
6427	SRSF2	HP:0002716	Lymphadenopathy
6427	SRSF2	HP:0002024	Malabsorption
6427	SRSF2	HP:0002018	Nausea
6427	SRSF2	HP:0002027	Abdominal pain
6427	SRSF2	HP:0003326	Myalgia
6427	SRSF2	HP:0002014	Diarrhea
6427	SRSF2	HP:0002086	Abnormality of the respiratory system
6427	SRSF2	HP:0002039	Anorexia
6427	SRSF2	HP:0100494	Abnormal mast cell morphology
6427	SRSF2	HP:0011897	Neutrophilia
6427	SRSF2	HP:0002240	Hepatomegaly
6427	SRSF2	HP:0002239	Gastrointestinal hemorrhage
6427	SRSF2	HP:0004808	Acute myeloid leukemia
6427	SRSF2	HP:0001025	Urticaria
6427	SRSF2	HP:0002315	Headache
6427	SRSF2	HP:0032155	Abdominal cramps
6427	SRSF2	HP:0031807	Increased basophil count
6427	SRSF2	HP:0005550	Chronic lymphatic leukemia
6427	SRSF2	HP:0005547	Myeloproliferative disorder
6427	SRSF2	HP:0001971	Hypersplenism
6427	SRSF2	HP:0001974	Leukocytosis
6427	SRSF2	HP:0001945	Fever
6427	SRSF2	HP:0001909	Leukemia
6427	SRSF2	HP:0001903	Anemia
6427	SRSF2	HP:0004398	Peptic ulcer
6427	SRSF2	HP:0031901	Elevated total serum tryptase
6427	SRSF2	HP:0004377	Hematological neoplasm
6427	SRSF2	HP:0003155	Elevated circulating alkaline phosphatase concentration
6427	SRSF2	HP:0000980	Pallor
6427	SRSF2	HP:0000989	Pruritus
6427	SRSF2	HP:0000939	Osteoporosis
6427	SRSF2	HP:0008066	Abnormal blistering of the skin
6427	SRSF2	HP:0040186	Maculopapular exanthema
6427	SRSF2	HP:0031408	Increased proportion of CD25+ mast cells
6427	SRSF2	HP:0002829	Arthralgia
6427	SRSF2	HP:0001541	Ascites
6427	SRSF2	HP:0002863	Myelodysplasia
6427	SRSF2	HP:0012378	Fatigue
6427	SRSF2	HP:0011034	Amyloidosis
6427	SRSF2	HP:0012324	Myeloid leukemia
6427	SRSF2	HP:0012325	Chronic myelomonocytic leukemia
6427	SRSF2	HP:0001649	Tachycardia
6427	SRSF2	HP:0011121	Abnormality of skin morphology
6427	SRSF2	HP:0001744	Splenomegaly
6427	SRSF2	HP:0006775	Multiple myeloma
6427	SRSF2	HP:0001824	Weight loss
6427	SRSF2	HP:0001895	Normochromic anemia
6427	SRSF2	HP:0001897	Normocytic anemia
6427	SRSF2	HP:0001880	Eosinophilia
6427	SRSF2	HP:0001873	Thrombocytopenia
6427	SRSF2	HP:0001876	Pancytopenia
6427	SRSF2	HP:0001875	Neutropenia
6439	SFTPB	HP:0025179	Ground-glass opacification
6439	SFTPB	HP:0100806	Sepsis
6439	SFTPB	HP:0001217	Clubbing
6439	SFTPB	HP:0003811	Neonatal death
6439	SFTPB	HP:0000007	Autosomal recessive inheritance
6439	SFTPB	HP:0002643	Neonatal respiratory distress
6439	SFTPB	HP:0002615	Hypotension
6439	SFTPB	HP:0002789	Tachypnea
6439	SFTPB	HP:0033186	Misalignment of the pulmonary veins
6439	SFTPB	HP:0002094	Dyspnea
6439	SFTPB	HP:0002092	Pulmonary arterial hypertension
6439	SFTPB	HP:0002090	Pneumonia
6439	SFTPB	HP:0100598	Pulmonary edema
6439	SFTPB	HP:0005942	Desquamative interstitial pneumonitis
6439	SFTPB	HP:0002113	Pulmonary infiltrates
6439	SFTPB	HP:0002104	Apnea
6439	SFTPB	HP:0004876	Spontaneous neonatal pneumothorax
6439	SFTPB	HP:0100750	Atelectasis
6439	SFTPB	HP:0011947	Respiratory tract infection
6439	SFTPB	HP:0003623	Neonatal onset
6439	SFTPB	HP:0000765	Abnormal thorax morphology
6439	SFTPB	HP:0030863	Nasal flaring
6439	SFTPB	HP:0030879	Interlobular septal thickening
6439	SFTPB	HP:0000961	Cyanosis
6439	SFTPB	HP:0002878	Respiratory failure
6439	SFTPB	HP:0001522	Death in infancy
6439	SFTPB	HP:0001508	Failure to thrive
6439	SFTPB	HP:0006528	Chronic lung disease
6439	SFTPB	HP:0006530	Abnormal pulmonary interstitial morphology
6439	SFTPB	HP:0006515	Interstitial pneumonitis
6439	SFTPB	HP:0006517	Intraalveolar phospholipid accumulation
6439	SFTPB	HP:0001695	Cardiac arrest
6439	SFTPB	HP:0001667	Right ventricular hypertrophy
6439	SFTPB	HP:0031457	Pulmonary opacity
6439	SFTPB	HP:0001649	Tachycardia
6439	SFTPB	HP:0001662	Bradycardia
6439	SFTPB	HP:0001622	Premature birth
6439	SFTPB	HP:0032981	Absent bronchoalveolar dimeric surfactant-protein B
6439	SFTPB	HP:0012418	Hypoxemia
6440	SFTPC	HP:0025175	Honeycomb lung
6440	SFTPC	HP:0025179	Ground-glass opacification
6440	SFTPC	HP:0033584	Nonspecific interstitial pneumonia
6440	SFTPC	HP:0033542	Bronchial wall thickening
6440	SFTPC	HP:0100806	Sepsis
6440	SFTPC	HP:0001263	Global developmental delay
6440	SFTPC	HP:0001217	Clubbing
6440	SFTPC	HP:0033638	Intralobular septal thickening
6440	SFTPC	HP:0032341	Reduced forced vital capacity
6440	SFTPC	HP:0001394	Cirrhosis
6440	SFTPC	HP:0025394	Cystic pattern on pulmonary HRCT
6440	SFTPC	HP:0025390	Reticular pattern on pulmonary HRCT
6440	SFTPC	HP:0000006	Autosomal dominant inheritance
6440	SFTPC	HP:0002615	Hypotension
6440	SFTPC	HP:0002789	Tachypnea
6440	SFTPC	HP:0002020	Gastroesophageal reflux
6440	SFTPC	HP:0002098	Respiratory distress
6440	SFTPC	HP:0002094	Dyspnea
6440	SFTPC	HP:0002092	Pulmonary arterial hypertension
6440	SFTPC	HP:0002093	Respiratory insufficiency
6440	SFTPC	HP:0002090	Pneumonia
6440	SFTPC	HP:0010444	Pulmonary insufficiency
6440	SFTPC	HP:0100598	Pulmonary edema
6440	SFTPC	HP:0005942	Desquamative interstitial pneumonitis
6440	SFTPC	HP:0002110	Bronchiectasis
6440	SFTPC	HP:0002108	Spontaneous pneumothorax
6440	SFTPC	HP:0002206	Pulmonary fibrosis
6440	SFTPC	HP:0010702	Increased circulating antibody level
6440	SFTPC	HP:0100750	Atelectasis
6440	SFTPC	HP:0100759	Clubbing of fingers
6440	SFTPC	HP:0033328	Type II pneumocyte hyperplasia
6440	SFTPC	HP:0011947	Respiratory tract infection
6440	SFTPC	HP:0031950	Usual interstitial pneumonia
6440	SFTPC	HP:0012735	Cough
6440	SFTPC	HP:0000765	Abnormal thorax morphology
6440	SFTPC	HP:0030863	Nasal flaring
6440	SFTPC	HP:0045051	Decreased DLCO
6440	SFTPC	HP:0030830	Crackles
6440	SFTPC	HP:0000961	Cyanosis
6440	SFTPC	HP:0002878	Respiratory failure
6440	SFTPC	HP:0002875	Exertional dyspnea
6440	SFTPC	HP:0001508	Failure to thrive
6440	SFTPC	HP:0006530	Abnormal pulmonary interstitial morphology
6440	SFTPC	HP:0006532	Recurrent pneumonia
6440	SFTPC	HP:0006515	Interstitial pneumonitis
6440	SFTPC	HP:0006517	Intraalveolar phospholipid accumulation
6440	SFTPC	HP:0006519	Alveolar cell carcinoma
6440	SFTPC	HP:0001695	Cardiac arrest
6440	SFTPC	HP:0001649	Tachycardia
6440	SFTPC	HP:0001662	Bradycardia
6440	SFTPC	HP:0001622	Premature birth
6440	SFTPC	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion
6440	SFTPC	HP:0032980	Absent bronchoalveolar surfactant-protein C
6440	SFTPC	HP:0012418	Hypoxemia
6442	SGCA	HP:0003797	Limb-girdle muscle atrophy
6442	SGCA	HP:0003707	Calf muscle pseudohypertrophy
6442	SGCA	HP:0003701	Proximal muscle weakness
6442	SGCA	HP:0003713	Muscle fiber necrosis
6442	SGCA	HP:0002515	Waddling gait
6442	SGCA	HP:0001371	Flexion contracture
6442	SGCA	HP:0000007	Autosomal recessive inheritance
6442	SGCA	HP:0002650	Scoliosis
6442	SGCA	HP:0008981	Calf muscle hypertrophy
6442	SGCA	HP:0003325	Limb-girdle muscle weakness
6442	SGCA	HP:0003307	Hyperlordosis
6442	SGCA	HP:0003391	Gowers sign
6442	SGCA	HP:0003458	EMG: myopathic abnormalities
6442	SGCA	HP:0003551	Difficulty climbing stairs
6442	SGCA	HP:0003560	Muscular dystrophy
6442	SGCA	HP:0003557	Increased variability in muscle fiber diameter
6442	SGCA	HP:0003691	Scapular winging
6442	SGCA	HP:0002359	Frequent falls
6442	SGCA	HP:0003676	Progressive
6442	SGCA	HP:0002317	Unsteady gait
6442	SGCA	HP:0003621	Juvenile onset
6442	SGCA	HP:0003236	Elevated circulating creatine kinase concentration
6442	SGCA	HP:0100297	Increased endomysial connective tissue
6442	SGCA	HP:0006466	Ankle flexion contracture
6442	SGCA	HP:0006467	Limited shoulder movement
6442	SGCA	HP:0030051	Tip-toe gait
6442	SGCA	HP:0002943	Thoracic scoliosis
6442	SGCA	HP:0001644	Dilated cardiomyopathy
6442	SGCA	HP:0001635	Congestive heart failure
6442	SGCA	HP:0001638	Cardiomyopathy
6442	SGCA	HP:0001771	Achilles tendon contracture
6442	SGCA	HP:0006785	Limb-girdle muscular dystrophy
6443	SGCB	HP:0003749	Pelvic girdle muscle weakness
6443	SGCB	HP:0003724	Shoulder girdle muscle atrophy
6443	SGCB	HP:0003707	Calf muscle pseudohypertrophy
6443	SGCB	HP:0002515	Waddling gait
6443	SGCB	HP:0002505	Loss of ambulation
6443	SGCB	HP:0000007	Autosomal recessive inheritance
6443	SGCB	HP:0008981	Calf muscle hypertrophy
6443	SGCB	HP:0008988	Pelvic girdle muscle atrophy
6443	SGCB	HP:0003325	Limb-girdle muscle weakness
6443	SGCB	HP:0003391	Gowers sign
6443	SGCB	HP:0002058	Myopathic facies
6443	SGCB	HP:0002136	Broad-based gait
6443	SGCB	HP:0003560	Muscular dystrophy
6443	SGCB	HP:0003557	Increased variability in muscle fiber diameter
6443	SGCB	HP:0003691	Scapular winging
6443	SGCB	HP:0002355	Difficulty walking
6443	SGCB	HP:0007126	Proximal amyotrophy
6443	SGCB	HP:0003621	Juvenile onset
6443	SGCB	HP:0000750	Delayed speech and language development
6443	SGCB	HP:0003198	Myopathy
6443	SGCB	HP:0003236	Elevated circulating creatine kinase concentration
6443	SGCB	HP:0002913	Myoglobinuria
6443	SGCB	HP:0001644	Dilated cardiomyopathy
6443	SGCB	HP:0001638	Cardiomyopathy
6444	SGCD	HP:0003701	Proximal muscle weakness
6444	SGCD	HP:0000007	Autosomal recessive inheritance
6444	SGCD	HP:0000006	Autosomal dominant inheritance
6444	SGCD	HP:0033755	Increased left ventricular end-diastolic volume
6444	SGCD	HP:0008981	Calf muscle hypertrophy
6444	SGCD	HP:0008948	Proximal upper limb amyotrophy
6444	SGCD	HP:0008956	Proximal lower limb amyotrophy
6444	SGCD	HP:0003391	Gowers sign
6444	SGCD	HP:0100578	Lipoatrophy
6444	SGCD	HP:0003457	EMG abnormality
6444	SGCD	HP:0003593	Infantile onset
6444	SGCD	HP:0003551	Difficulty climbing stairs
6444	SGCD	HP:0003560	Muscular dystrophy
6444	SGCD	HP:0010628	Facial palsy
6444	SGCD	HP:0002362	Shuffling gait
6444	SGCD	HP:0003691	Scapular winging
6444	SGCD	HP:0002355	Difficulty walking
6444	SGCD	HP:0007126	Proximal amyotrophy
6444	SGCD	HP:0003621	Juvenile onset
6444	SGCD	HP:0009055	Generalized limb muscle atrophy
6444	SGCD	HP:0012664	Reduced left ventricular ejection fraction
6444	SGCD	HP:0011463	Childhood onset
6444	SGCD	HP:0011462	Young adult onset
6444	SGCD	HP:0003198	Myopathy
6444	SGCD	HP:0003236	Elevated circulating creatine kinase concentration
6444	SGCD	HP:0000982	Palmoplantar keratoderma
6444	SGCD	HP:0001645	Sudden cardiac death
6444	SGCD	HP:0001644	Dilated cardiomyopathy
6444	SGCD	HP:0001635	Congestive heart failure
6444	SGCD	HP:0006673	Reduced systolic function
6444	SGCD	HP:0000407	Sensorineural hearing impairment
6444	SGCD	HP:0001714	Ventricular hypertrophy
6444	SGCD	HP:0001874	Abnormality of neutrophils
6445	SGCG	HP:0025169	Left ventricular systolic dysfunction
6445	SGCG	HP:0003730	EMG: myotonic runs
6445	SGCG	HP:0003722	Neck flexor weakness
6445	SGCG	HP:0003707	Calf muscle pseudohypertrophy
6445	SGCG	HP:0003713	Muscle fiber necrosis
6445	SGCG	HP:0002515	Waddling gait
6445	SGCG	HP:0002505	Loss of ambulation
6445	SGCG	HP:0003803	Type 1 muscle fiber predominance
6445	SGCG	HP:0001371	Flexion contracture
6445	SGCG	HP:0000007	Autosomal recessive inheritance
6445	SGCG	HP:0002650	Scoliosis
6445	SGCG	HP:0000158	Macroglossia
6445	SGCG	HP:0008981	Calf muscle hypertrophy
6445	SGCG	HP:0003307	Hyperlordosis
6445	SGCG	HP:0002090	Pneumonia
6445	SGCG	HP:0002091	Restrictive ventilatory defect
6445	SGCG	HP:0003391	Gowers sign
6445	SGCG	HP:0003484	Upper limb muscle weakness
6445	SGCG	HP:0002136	Broad-based gait
6445	SGCG	HP:0003458	EMG: myopathic abnormalities
6445	SGCG	HP:0003555	Muscle fiber splitting
6445	SGCG	HP:0003551	Difficulty climbing stairs
6445	SGCG	HP:0003560	Muscular dystrophy
6445	SGCG	HP:0003557	Increased variability in muscle fiber diameter
6445	SGCG	HP:0003691	Scapular winging
6445	SGCG	HP:0002359	Frequent falls
6445	SGCG	HP:0003678	Rapidly progressive
6445	SGCG	HP:0003621	Juvenile onset
6445	SGCG	HP:0009046	Difficulty running
6445	SGCG	HP:0004311	Abnormal macrophage morphology
6445	SGCG	HP:0011463	Childhood onset
6445	SGCG	HP:0003236	Elevated circulating creatine kinase concentration
6445	SGCG	HP:0003202	Skeletal muscle atrophy
6445	SGCG	HP:0100284	EMG: myotonic discharges
6445	SGCG	HP:0100297	Increased endomysial connective tissue
6445	SGCG	HP:0000276	Long face
6445	SGCG	HP:0005133	Right ventricular dilatation
6445	SGCG	HP:0030007	EMG: positive sharp waves
6445	SGCG	HP:0030051	Tip-toe gait
6445	SGCG	HP:0002938	Lumbar hyperlordosis
6445	SGCG	HP:0001667	Right ventricular hypertrophy
6445	SGCG	HP:0001771	Achilles tendon contracture
6448	SGSH	HP:0001250	Seizure
6448	SGSH	HP:0001249	Intellectual disability
6448	SGSH	HP:0001263	Global developmental delay
6448	SGSH	HP:0001387	Joint stiffness
6448	SGSH	HP:0000023	Inguinal hernia
6448	SGSH	HP:0000007	Autosomal recessive inheritance
6448	SGSH	HP:0002650	Scoliosis
6448	SGSH	HP:0002788	Recurrent upper respiratory tract infections
6448	SGSH	HP:0002014	Diarrhea
6448	SGSH	HP:0003309	Ovoid thoracolumbar vertebrae
6448	SGSH	HP:0002159	Heparan sulfate excretion in urine
6448	SGSH	HP:0002240	Hepatomegaly
6448	SGSH	HP:0002208	Coarse hair
6448	SGSH	HP:0002360	Sleep disturbance
6448	SGSH	HP:0001007	Hirsutism
6448	SGSH	HP:0000664	Synophrys
6448	SGSH	HP:0000752	Hyperactivity
6448	SGSH	HP:0011463	Childhood onset
6448	SGSH	HP:0000900	Thickened ribs
6448	SGSH	HP:0000943	Dysostosis multiplex
6448	SGSH	HP:0000280	Coarse facial features
6448	SGSH	HP:0000250	Dense calvaria
6448	SGSH	HP:0001537	Umbilical hernia
6448	SGSH	HP:0001507	Growth abnormality
6448	SGSH	HP:0000365	Hearing impairment
6448	SGSH	HP:0001670	Asymmetric septal hypertrophy
6448	SGSH	HP:0001744	Splenomegaly
6452	SH3BP2	HP:0001133	Constriction of peripheral visual field
6452	SH3BP2	HP:0001138	Optic neuropathy
6452	SH3BP2	HP:0012062	Bone cyst
6452	SH3BP2	HP:0008872	Feeding difficulties in infancy
6452	SH3BP2	HP:0000006	Autosomal dominant inheritance
6452	SH3BP2	HP:0000189	Narrow palate
6452	SH3BP2	HP:0000164	Abnormality of the dentition
6452	SH3BP2	HP:0007663	Reduced visual acuity
6452	SH3BP2	HP:0002781	Upper airway obstruction
6452	SH3BP2	HP:0033176	Submandibular lymph node enlargement
6452	SH3BP2	HP:0200057	Marcus Gunn pupil
6452	SH3BP2	HP:0200056	Macular scar
6452	SH3BP2	HP:0003621	Juvenile onset
6452	SH3BP2	HP:0009085	Alveolar ridge overgrowth
6452	SH3BP2	HP:0000648	Optic atrophy
6452	SH3BP2	HP:0000677	Oligodontia
6452	SH3BP2	HP:0000689	Dental malocclusion
6452	SH3BP2	HP:0004379	Abnormality of alkaline phosphatase level
6452	SH3BP2	HP:0011463	Childhood onset
6452	SH3BP2	HP:0011462	Young adult onset
6452	SH3BP2	HP:0030793	Jaw swelling
6452	SH3BP2	HP:0012802	Broad jaw
6452	SH3BP2	HP:0030802	Lower eyelid retraction
6452	SH3BP2	HP:0000293	Full cheeks
6452	SH3BP2	HP:0000277	Abnormal mandible morphology
6452	SH3BP2	HP:0001571	Multiple impacted teeth
6452	SH3BP2	HP:0002870	Obstructive sleep apnea
6452	SH3BP2	HP:0001608	Abnormality of the voice
6452	SH3BP2	HP:0006482	Abnormality of dental morphology
6452	SH3BP2	HP:0000311	Round face
6452	SH3BP2	HP:0000529	Progressive visual loss
6452	SH3BP2	HP:0000520	Proptosis
6452	SH3BP2	HP:0000505	Visual impairment
6455	SH3GL1	HP:0000006	Autosomal dominant inheritance
6455	SH3GL1	HP:0001428	Somatic mutation
6455	SH3GL1	HP:0004808	Acute myeloid leukemia
6468	FBXW4	HP:0001171	Split hand
6468	FBXW4	HP:0006101	Finger syndactyly
6468	FBXW4	HP:0012165	Oligodactyly
6468	FBXW4	HP:0004050	Absent hand
6468	FBXW4	HP:0000407	Sensorineural hearing impairment
6468	FBXW4	HP:0000526	Aniridia
6469	SHH	HP:0001172	Abnormal thumb morphology
6469	SHH	HP:0001161	Hand polydactyly
6469	SHH	HP:0002465	Poor speech
6469	SHH	HP:0002474	Expressive language delay
6469	SHH	HP:0002451	Limb dystonia
6469	SHH	HP:0007301	Oromotor apraxia
6469	SHH	HP:0009932	Single naris
6469	SHH	HP:0001199	Triphalangeal thumb
6469	SHH	HP:0009914	Cyclopia
6469	SHH	HP:0002418	Abnormal midbrain morphology
6469	SHH	HP:0001290	Generalized hypotonia
6469	SHH	HP:0001274	Agenesis of corpus callosum
6469	SHH	HP:0001273	Abnormal corpus callosum morphology
6469	SHH	HP:0001254	Lethargy
6469	SHH	HP:0001256	Intellectual disability, mild
6469	SHH	HP:0001250	Seizure
6469	SHH	HP:0001249	Intellectual disability
6469	SHH	HP:0001263	Global developmental delay
6469	SHH	HP:0001257	Spasticity
6469	SHH	HP:0008736	Hypoplasia of penis
6469	SHH	HP:0007375	Abnormal septum pellucidum morphology
6469	SHH	HP:0002540	Inability to walk
6469	SHH	HP:0003828	Variable expressivity
6469	SHH	HP:0003829	Typified by incomplete penetrance
6469	SHH	HP:0000062	Ambiguous genitalia
6469	SHH	HP:0001376	Limitation of joint mobility
6469	SHH	HP:0001371	Flexion contracture
6469	SHH	HP:0001355	Megalencephaly
6469	SHH	HP:0001360	Holoprosencephaly
6469	SHH	HP:0001328	Specific learning disability
6469	SHH	HP:0001344	Absent speech
6469	SHH	HP:0000006	Autosomal dominant inheritance
6469	SHH	HP:0002650	Scoliosis
6469	SHH	HP:0000193	Bifid uvula
6469	SHH	HP:0000161	Median cleft lip
6469	SHH	HP:0000175	Cleft palate
6469	SHH	HP:0410030	Cleft lip
6469	SHH	HP:0006315	Solitary median maxillary central incisor
6469	SHH	HP:0007633	Bilateral microphthalmos
6469	SHH	HP:0008947	Infantile muscular hypotonia
6469	SHH	HP:0002708	Prominent median palatal raphe
6469	SHH	HP:0012110	Hypoplasia of the pons
6469	SHH	HP:0000119	Abnormality of the genitourinary system
6469	SHH	HP:0002793	Abnormal pattern of respiration
6469	SHH	HP:0000126	Hydronephrosis
6469	SHH	HP:0000104	Renal agenesis
6469	SHH	HP:0002020	Gastroesophageal reflux
6469	SHH	HP:0002019	Constipation
6469	SHH	HP:0002033	Poor suck
6469	SHH	HP:0002000	Short columella
6469	SHH	HP:0002015	Dysphagia
6469	SHH	HP:0002013	Vomiting
6469	SHH	HP:0040327	Abnormal morphology of the olfactory bulb
6469	SHH	HP:0005968	Temperature instability
6469	SHH	HP:0011800	Midface retrusion
6469	SHH	HP:0002099	Asthma
6469	SHH	HP:0009484	Deviation of the hand or of fingers of the hand
6469	SHH	HP:0011787	Central hypothyroidism
6469	SHH	HP:0003468	Abnormal vertebral morphology
6469	SHH	HP:0002120	Cerebral cortical atrophy
6469	SHH	HP:0002119	Ventriculomegaly
6469	SHH	HP:0003458	EMG: myopathic abnormalities
6469	SHH	HP:0009601	Aplasia/Hypoplasia of the thumb
6469	SHH	HP:0100490	Camptodactyly of finger
6469	SHH	HP:0002270	Abnormality of the autonomic nervous system
6469	SHH	HP:0100704	Cerebral visual impairment
6469	SHH	HP:0100710	Impulsivity
6469	SHH	HP:0002247	Duodenal atresia
6469	SHH	HP:0010708	1-5 finger syndactyly
6469	SHH	HP:0100789	Torus palatinus
6469	SHH	HP:0010654	Aplasia of the falx cerebri
6469	SHH	HP:0007018	Attention deficit hyperactivity disorder
6469	SHH	HP:0010644	Midnasal stenosis
6469	SHH	HP:0011968	Feeding difficulties
6469	SHH	HP:0010636	Schizencephaly
6469	SHH	HP:0011951	Aspiration pneumonia
6469	SHH	HP:0025011	Pyriform aperture stenosis
6469	SHH	HP:0002363	Abnormal brainstem morphology
6469	SHH	HP:0001028	Hemangioma
6469	SHH	HP:0010804	Tented upper lip vermilion
6469	SHH	HP:0009800	Maternal diabetes
6469	SHH	HP:0031860	Abnormal heart rate variability
6469	SHH	HP:0004243	Abnormality of the scaphoid
6469	SHH	HP:0004252	Abnormality of the trapezium
6469	SHH	HP:0000612	Iris coloboma
6469	SHH	HP:0000601	Hypotelorism
6469	SHH	HP:0009062	Infantile axial hypotonia
6469	SHH	HP:0010035	Aplasia of the 1st metacarpal
6469	SHH	HP:0012650	Perisylvian polymicrogyria
6469	SHH	HP:0004322	Short stature
6469	SHH	HP:0006979	Sleep-wake cycle disturbance
6469	SHH	HP:0030680	Abnormality of cardiovascular system morphology
6469	SHH	HP:0031913	Rhombencephalosynapsis
6469	SHH	HP:0000772	Abnormal rib morphology
6469	SHH	HP:0000737	Irritability
6469	SHH	HP:0000739	Anxiety
6469	SHH	HP:0000736	Short attention span
6469	SHH	HP:0012718	Morphological abnormality of the gastrointestinal tract
6469	SHH	HP:0000741	Apathy
6469	SHH	HP:0000716	Depression
6469	SHH	HP:0000708	Atypical behavior
6469	SHH	HP:0011471	Gastrostomy tube feeding in infancy
6469	SHH	HP:0011442	Abnormal central motor function
6469	SHH	HP:0005772	Aplasia/Hypoplasia of the tibia
6469	SHH	HP:0005736	Short tibia
6469	SHH	HP:0003196	Short nose
6469	SHH	HP:0000924	Abnormality of the skeletal system
6469	SHH	HP:0004478	Ethmoidal encephalocele
6469	SHH	HP:0000873	Diabetes insipidus
6469	SHH	HP:0000871	Panhypopituitarism
6469	SHH	HP:0000863	Central diabetes insipidus
6469	SHH	HP:0000830	Anterior hypopituitarism
6469	SHH	HP:0012806	Proboscis
6469	SHH	HP:0000818	Abnormality of the endocrine system
6469	SHH	HP:0000826	Precocious puberty
6469	SHH	HP:0000821	Hypothyroidism
6469	SHH	HP:0000824	Decreased response to growth hormone stimulation test
6469	SHH	HP:0040064	Abnormality of limbs
6469	SHH	HP:0045005	Neural tube defect
6469	SHH	HP:0012285	Abnormal hypothalamus physiology
6469	SHH	HP:0000256	Macrocephaly
6469	SHH	HP:0000272	Malar flattening
6469	SHH	HP:0006443	Patellar aplasia
6469	SHH	HP:0002827	Hip dislocation
6469	SHH	HP:0005048	Synostosis of carpal bones
6469	SHH	HP:0000238	Hydrocephalus
6469	SHH	HP:0000252	Microcephaly
6469	SHH	HP:0000218	High palate
6469	SHH	HP:0001545	Anteriorly placed anus
6469	SHH	HP:0002871	Central apnea
6469	SHH	HP:0000202	Orofacial cleft
6469	SHH	HP:0000204	Cleft upper lip
6469	SHH	HP:0001508	Failure to thrive
6469	SHH	HP:0001501	6 metacarpals
6469	SHH	HP:0001511	Intrauterine growth retardation
6469	SHH	HP:0001510	Growth delay
6469	SHH	HP:0006501	Aplasia/Hypoplasia of the radius
6469	SHH	HP:0006528	Chronic lung disease
6469	SHH	HP:0002916	Abnormality of chromosome segregation
6469	SHH	HP:0000366	Abnormality of the nose
6469	SHH	HP:0001680	Coarctation of aorta
6469	SHH	HP:0002991	Abnormality of fibula morphology
6469	SHH	HP:0000322	Short philtrum
6469	SHH	HP:0001627	Abnormal heart morphology
6469	SHH	HP:0001622	Premature birth
6469	SHH	HP:0001636	Tetralogy of Fallot
6469	SHH	HP:0001739	Abnormal nasopharynx morphology
6469	SHH	HP:0000407	Sensorineural hearing impairment
6469	SHH	HP:0005280	Depressed nasal bridge
6469	SHH	HP:0000486	Strabismus
6469	SHH	HP:0000478	Abnormality of the eye
6469	SHH	HP:0000463	Anteverted nares
6469	SHH	HP:0000458	Anosmia
6469	SHH	HP:0000457	Depressed nasal ridge
6469	SHH	HP:0001770	Toe syndactyly
6469	SHH	HP:0000453	Choanal atresia
6469	SHH	HP:0000446	Narrow nasal bridge
6469	SHH	HP:0000528	Anophthalmia
6469	SHH	HP:0000520	Proptosis
6469	SHH	HP:0001829	Foot polydactyly
6469	SHH	HP:0000504	Abnormality of vision
6469	SHH	HP:0000589	Coloboma
6469	SHH	HP:0000568	Microphthalmia
6469	SHH	HP:0000567	Chorioretinal coloboma
6472	SHMT2	HP:0001181	Adducted thumb
6472	SHMT2	HP:0002474	Expressive language delay
6472	SHMT2	HP:0009943	Complete duplication of thumb phalanx
6472	SHMT2	HP:0010864	Intellectual disability, severe
6472	SHMT2	HP:0002553	Highly arched eyebrow
6472	SHMT2	HP:0002510	Spastic tetraplegia
6472	SHMT2	HP:0001349	Facial diplegia
6472	SHMT2	HP:0001347	Hyperreflexia
6472	SHMT2	HP:0000007	Autosomal recessive inheritance
6472	SHMT2	HP:0001310	Dysmetria
6472	SHMT2	HP:0002650	Scoliosis
6472	SHMT2	HP:0000193	Bifid uvula
6472	SHMT2	HP:0002714	Downturned corners of mouth
6472	SHMT2	HP:0004691	2-3 toe syndactyly
6472	SHMT2	HP:0002064	Spastic gait
6472	SHMT2	HP:0003390	Sensory axonal neuropathy
6472	SHMT2	HP:0002078	Truncal ataxia
6472	SHMT2	HP:0002079	Hypoplasia of the corpus callosum
6472	SHMT2	HP:0030953	Conjunctival hyperemia
6472	SHMT2	HP:0003487	Babinski sign
6472	SHMT2	HP:0002119	Ventriculomegaly
6472	SHMT2	HP:0009623	Proximal placement of thumb
6472	SHMT2	HP:0003577	Congenital onset
6472	SHMT2	HP:0007018	Attention deficit hyperactivity disorder
6472	SHMT2	HP:0002342	Intellectual disability, moderate
6472	SHMT2	HP:0003623	Neonatal onset
6472	SHMT2	HP:0002307	Drooling
6472	SHMT2	HP:0012650	Perisylvian polymicrogyria
6472	SHMT2	HP:0031936	Delayed ability to walk
6472	SHMT2	HP:0000718	Aggressive behavior
6472	SHMT2	HP:0000252	Microcephaly
6472	SHMT2	HP:0000219	Thin upper lip vermilion
6472	SHMT2	HP:0001510	Growth delay
6472	SHMT2	HP:0000343	Long philtrum
6472	SHMT2	HP:0001684	Secundum atrial septal defect
6472	SHMT2	HP:0000322	Short philtrum
6472	SHMT2	HP:0001639	Hypertrophic cardiomyopathy
6472	SHMT2	HP:0000486	Strabismus
6472	SHMT2	HP:0012407	Scissor gait
6472	SHMT2	HP:0000514	Slow saccadic eye movements
6473	SHOX	HP:0001156	Brachydactyly
6473	SHOX	HP:0001191	Abnormal carpal morphology
6473	SHOX	HP:0003712	Skeletal muscle hypertrophy
6473	SHOX	HP:0001249	Intellectual disability
6473	SHOX	HP:0100864	Short femoral neck
6473	SHOX	HP:0001387	Joint stiffness
6473	SHOX	HP:0002683	Abnormal calvaria morphology
6473	SHOX	HP:0008873	Disproportionate short-limb short stature
6473	SHOX	HP:0008845	Mesomelic short stature
6473	SHOX	HP:0003993	Broad ulna
6473	SHOX	HP:0002673	Coxa valga
6473	SHOX	HP:0000007	Autosomal recessive inheritance
6473	SHOX	HP:0000006	Autosomal dominant inheritance
6473	SHOX	HP:0002650	Scoliosis
6473	SHOX	HP:0002644	Abnormal pelvic girdle bone morphology
6473	SHOX	HP:0005026	Mesomelic/rhizomelic limb shortening
6473	SHOX	HP:0005019	Diaphyseal thickening
6473	SHOX	HP:0006248	Limited wrist movement
6473	SHOX	HP:0002762	Multiple exostoses
6473	SHOX	HP:0001417	X-linked inheritance
6473	SHOX	HP:0003367	Abnormal femoral neck morphology
6473	SHOX	HP:0005974	Episodic ketoacidosis
6473	SHOX	HP:0009465	Ulnar deviation of finger
6473	SHOX	HP:0005930	Abnormal epiphysis morphology
6473	SHOX	HP:0005916	Abnormal metacarpal morphology
6473	SHOX	HP:0010579	Cone-shaped epiphysis
6473	SHOX	HP:0100777	Exostoses
6473	SHOX	HP:0010624	Aplastic/hypoplastic toenail
6473	SHOX	HP:0003510	Severe short stature
6473	SHOX	HP:0009816	Lower limb undergrowth
6473	SHOX	HP:0009821	Forearm undergrowth
6473	SHOX	HP:0004209	Clinodactyly of the 5th finger
6473	SHOX	HP:0010044	Short 4th metacarpal
6473	SHOX	HP:0004322	Short stature
6473	SHOX	HP:0003067	Madelung deformity
6473	SHOX	HP:0003063	Abnormality of the humerus
6473	SHOX	HP:0003038	Fibular hypoplasia
6473	SHOX	HP:0003031	Ulnar bowing
6473	SHOX	HP:0003042	Elbow dislocation
6473	SHOX	HP:0003027	Mesomelia
6473	SHOX	HP:0003022	Hypoplasia of the ulna
6473	SHOX	HP:0003102	Increased carrying angle
6473	SHOX	HP:0005736	Short tibia
6473	SHOX	HP:0040071	Abnormal morphology of ulna
6473	SHOX	HP:0005856	Ulnar radial head dislocation
6473	SHOX	HP:0003272	Abnormal hip bone morphology
6473	SHOX	HP:0000944	Abnormal metaphysis morphology
6473	SHOX	HP:0006459	Dorsal subluxation of ulna
6473	SHOX	HP:0006443	Patellar aplasia
6473	SHOX	HP:0002818	Abnormal morphology of the radius
6473	SHOX	HP:0002823	Abnormality of femur morphology
6473	SHOX	HP:0006381	Rudimentary fibula
6473	SHOX	HP:0000218	High palate
6473	SHOX	HP:0002857	Genu valgum
6473	SHOX	HP:0001513	Obesity
6473	SHOX	HP:0002938	Lumbar hyperlordosis
6473	SHOX	HP:0006492	Aplasia/Hypoplasia of the fibula
6473	SHOX	HP:0006487	Bowing of the long bones
6473	SHOX	HP:0002996	Limited elbow movement
6473	SHOX	HP:0000347	Micrognathia
6473	SHOX	HP:0002982	Tibial bowing
6473	SHOX	HP:0002983	Micromelia
6473	SHOX	HP:0002992	Abnormality of tibia morphology
6473	SHOX	HP:0002986	Radial bowing
6473	SHOX	HP:0002984	Hypoplasia of the radius
6473	SHOX	HP:0002970	Genu varum
6473	SHOX	HP:0002967	Cubitus valgus
6473	SHOX	HP:0005280	Depressed nasal bridge
6473	SHOX	HP:0000470	Short neck
6473	SHOX	HP:0001773	Short foot
6473	SHOX	HP:0000431	Wide nasal bridge
6473	SHOX	HP:0001832	Abnormal metatarsal morphology
6473	SHOX	HP:0001831	Short toe
6473	SHOX	HP:0001804	Hypoplastic fingernail
6476	SI	HP:0033597	Decreased mucosal sucrase-isomaltase activity
6476	SI	HP:0000007	Autosomal recessive inheritance
6476	SI	HP:0002024	Malabsorption
6476	SI	HP:0002027	Abdominal pain
6476	SI	HP:0002014	Diarrhea
6476	SI	HP:0002013	Vomiting
6476	SI	HP:0011848	Abdominal colic
6476	SI	HP:0003593	Infantile onset
6476	SI	HP:0000787	Nephrolithiasis
6476	SI	HP:0003270	Abdominal distention
6477	SIAH1	HP:0008551	Microtia
6477	SIAH1	HP:0001270	Motor delay
6477	SIAH1	HP:0025325	Sparse medial eyebrow
6477	SIAH1	HP:0000047	Hypospadias
6477	SIAH1	HP:0000028	Cryptorchidism
6477	SIAH1	HP:0000006	Autosomal dominant inheritance
6477	SIAH1	HP:0000193	Bifid uvula
6477	SIAH1	HP:0000176	Submucous cleft hard palate
6477	SIAH1	HP:0008947	Infantile muscular hypotonia
6477	SIAH1	HP:0002020	Gastroesophageal reflux
6477	SIAH1	HP:0003577	Congenital onset
6477	SIAH1	HP:0004209	Clinodactyly of the 5th finger
6477	SIAH1	HP:0010055	Broad hallux
6477	SIAH1	HP:0011304	Broad thumb
6477	SIAH1	HP:0000750	Delayed speech and language development
6477	SIAH1	HP:0000286	Epicanthus
6477	SIAH1	HP:0000220	Velopharyngeal insufficiency
6477	SIAH1	HP:0000218	High palate
6477	SIAH1	HP:0006532	Recurrent pneumonia
6477	SIAH1	HP:0001601	Laryngomalacia
6477	SIAH1	HP:0000358	Posteriorly rotated ears
6477	SIAH1	HP:0000369	Low-set ears
6477	SIAH1	HP:0000316	Hypertelorism
6477	SIAH1	HP:0001631	Atrial septal defect
6477	SIAH1	HP:0000486	Strabismus
6477	SIAH1	HP:0000494	Downslanted palpebral fissures
6477	SIAH1	HP:0001792	Small nail
6477	SIAH1	HP:0000508	Ptosis
6477	SIAH1	HP:0000577	Exotropia
6477	SIAH1	HP:0000565	Esotropia
6477	SIAH1	HP:0012520	Dilation of Virchow-Robin spaces
6487	ST3GAL3	HP:0002476	Primitive reflex
6487	ST3GAL3	HP:0001252	Hypotonia
6487	ST3GAL3	HP:0001249	Intellectual disability
6487	ST3GAL3	HP:0002540	Inability to walk
6487	ST3GAL3	HP:0002521	Hypsarrhythmia
6487	ST3GAL3	HP:0000007	Autosomal recessive inheritance
6487	ST3GAL3	HP:0001336	Myoclonus
6487	ST3GAL3	HP:0002069	Bilateral tonic-clonic seizure
6487	ST3GAL3	HP:0002187	Intellectual disability, profound
6487	ST3GAL3	HP:0002266	Focal clonic seizure
6487	ST3GAL3	HP:0003593	Infantile onset
6487	ST3GAL3	HP:0200134	Epileptic encephalopathy
6487	ST3GAL3	HP:0002376	Developmental regression
6487	ST3GAL3	HP:0010819	Atonic seizure
6487	ST3GAL3	HP:0011344	Severe global developmental delay
6487	ST3GAL3	HP:0000737	Irritability
6487	ST3GAL3	HP:0000707	Abnormality of the nervous system
6487	ST3GAL3	HP:0011097	Epileptic spasm
6487	ST3GAL3	HP:0032792	Tonic seizure
6487	ST3GAL3	HP:0032794	Myoclonic seizure
6487	ST3GAL3	HP:0012469	Infantile spasms
6487	ST3GAL3	HP:0011121	Abnormality of skin morphology
6491	STIL	HP:0002465	Poor speech
6491	STIL	HP:0002474	Expressive language delay
6491	STIL	HP:0002451	Limb dystonia
6491	STIL	HP:0007301	Oromotor apraxia
6491	STIL	HP:0009932	Single naris
6491	STIL	HP:0009914	Cyclopia
6491	STIL	HP:0010864	Intellectual disability, severe
6491	STIL	HP:0009879	Simplified gyral pattern
6491	STIL	HP:0002418	Abnormal midbrain morphology
6491	STIL	HP:0001290	Generalized hypotonia
6491	STIL	HP:0001274	Agenesis of corpus callosum
6491	STIL	HP:0001273	Abnormal corpus callosum morphology
6491	STIL	HP:0001254	Lethargy
6491	STIL	HP:0001250	Seizure
6491	STIL	HP:0001249	Intellectual disability
6491	STIL	HP:0001263	Global developmental delay
6491	STIL	HP:0001257	Spasticity
6491	STIL	HP:0007375	Abnormal septum pellucidum morphology
6491	STIL	HP:0007333	Hypoplasia of the frontal lobes
6491	STIL	HP:0002540	Inability to walk
6491	STIL	HP:0000076	Vesicoureteral reflux
6491	STIL	HP:0001371	Flexion contracture
6491	STIL	HP:0001355	Megalencephaly
6491	STIL	HP:0001347	Hyperreflexia
6491	STIL	HP:0001328	Specific learning disability
6491	STIL	HP:0001344	Absent speech
6491	STIL	HP:0000007	Autosomal recessive inheritance
6491	STIL	HP:0001302	Pachygyria
6491	STIL	HP:0002650	Scoliosis
6491	STIL	HP:0000193	Bifid uvula
6491	STIL	HP:0000161	Median cleft lip
6491	STIL	HP:0000175	Cleft palate
6491	STIL	HP:0006315	Solitary median maxillary central incisor
6491	STIL	HP:0008947	Infantile muscular hypotonia
6491	STIL	HP:0000122	Unilateral renal agenesis
6491	STIL	HP:0012110	Hypoplasia of the pons
6491	STIL	HP:0000119	Abnormality of the genitourinary system
6491	STIL	HP:0002793	Abnormal pattern of respiration
6491	STIL	HP:0002020	Gastroesophageal reflux
6491	STIL	HP:0002019	Constipation
6491	STIL	HP:0002033	Poor suck
6491	STIL	HP:0002015	Dysphagia
6491	STIL	HP:0002013	Vomiting
6491	STIL	HP:0040327	Abnormal morphology of the olfactory bulb
6491	STIL	HP:0005968	Temperature instability
6491	STIL	HP:0011787	Central hypothyroidism
6491	STIL	HP:0003468	Abnormal vertebral morphology
6491	STIL	HP:0002119	Ventriculomegaly
6491	STIL	HP:0002270	Abnormality of the autonomic nervous system
6491	STIL	HP:0003577	Congenital onset
6491	STIL	HP:0100704	Cerebral visual impairment
6491	STIL	HP:0100710	Impulsivity
6491	STIL	HP:0002282	Gray matter heterotopia
6491	STIL	HP:0010654	Aplasia of the falx cerebri
6491	STIL	HP:0007018	Attention deficit hyperactivity disorder
6491	STIL	HP:0011968	Feeding difficulties
6491	STIL	HP:0011951	Aspiration pneumonia
6491	STIL	HP:0002363	Abnormal brainstem morphology
6491	STIL	HP:0031860	Abnormal heart rate variability
6491	STIL	HP:0000601	Hypotelorism
6491	STIL	HP:0009062	Infantile axial hypotonia
6491	STIL	HP:0012650	Perisylvian polymicrogyria
6491	STIL	HP:0004322	Short stature
6491	STIL	HP:0006979	Sleep-wake cycle disturbance
6491	STIL	HP:0031913	Rhombencephalosynapsis
6491	STIL	HP:0000772	Abnormal rib morphology
6491	STIL	HP:0000737	Irritability
6491	STIL	HP:0000739	Anxiety
6491	STIL	HP:0000736	Short attention span
6491	STIL	HP:0012718	Morphological abnormality of the gastrointestinal tract
6491	STIL	HP:0000741	Apathy
6491	STIL	HP:0000716	Depression
6491	STIL	HP:0000708	Atypical behavior
6491	STIL	HP:0011471	Gastrostomy tube feeding in infancy
6491	STIL	HP:0011451	Primary microcephaly
6491	STIL	HP:0011442	Abnormal central motor function
6491	STIL	HP:0003103	Abnormal cortical bone morphology
6491	STIL	HP:0000924	Abnormality of the skeletal system
6491	STIL	HP:0004478	Ethmoidal encephalocele
6491	STIL	HP:0000873	Diabetes insipidus
6491	STIL	HP:0000871	Panhypopituitarism
6491	STIL	HP:0000863	Central diabetes insipidus
6491	STIL	HP:0000830	Anterior hypopituitarism
6491	STIL	HP:0012806	Proboscis
6491	STIL	HP:0000818	Abnormality of the endocrine system
6491	STIL	HP:0000826	Precocious puberty
6491	STIL	HP:0000824	Decreased response to growth hormone stimulation test
6491	STIL	HP:0040064	Abnormality of limbs
6491	STIL	HP:0045005	Neural tube defect
6491	STIL	HP:0012285	Abnormal hypothalamus physiology
6491	STIL	HP:0000256	Macrocephaly
6491	STIL	HP:0002827	Hip dislocation
6491	STIL	HP:0000238	Hydrocephalus
6491	STIL	HP:0000252	Microcephaly
6491	STIL	HP:0000219	Thin upper lip vermilion
6491	STIL	HP:0000218	High palate
6491	STIL	HP:0001545	Anteriorly placed anus
6491	STIL	HP:0002871	Central apnea
6491	STIL	HP:0001508	Failure to thrive
6491	STIL	HP:0001510	Growth delay
6491	STIL	HP:0006528	Chronic lung disease
6491	STIL	HP:0000340	Sloping forehead
6491	STIL	HP:0001680	Coarctation of aorta
6491	STIL	HP:0001627	Abnormal heart morphology
6491	STIL	HP:0000407	Sensorineural hearing impairment
6491	STIL	HP:0000478	Abnormality of the eye
6491	STIL	HP:0000457	Depressed nasal ridge
6491	STIL	HP:0000448	Prominent nose
6491	STIL	HP:0000582	Upslanted palpebral fissure
6492	SIM1	HP:0001182	Tapered finger
6492	SIM1	HP:0002494	Abnormal rapid eye movement sleep
6492	SIM1	HP:0025160	Abnormal temper tantrums
6492	SIM1	HP:0008551	Microtia
6492	SIM1	HP:0001270	Motor delay
6492	SIM1	HP:0025237	Confusional arousal
6492	SIM1	HP:0001254	Lethargy
6492	SIM1	HP:0001250	Seizure
6492	SIM1	HP:0001252	Hypotonia
6492	SIM1	HP:0001249	Intellectual disability
6492	SIM1	HP:0002591	Polyphagia
6492	SIM1	HP:0001263	Global developmental delay
6492	SIM1	HP:0008734	Decreased testicular size
6492	SIM1	HP:0410263	Brain imaging abnormality
6492	SIM1	HP:0000064	Hypoplastic labia minora
6492	SIM1	HP:0000060	Clitoral hypoplasia
6492	SIM1	HP:0000044	Hypogonadotropic hypogonadism
6492	SIM1	HP:0000046	Small scrotum
6492	SIM1	HP:0000054	Micropenis
6492	SIM1	HP:0001385	Hip dysplasia
6492	SIM1	HP:0000028	Cryptorchidism
6492	SIM1	HP:0001328	Specific learning disability
6492	SIM1	HP:0002650	Scoliosis
6492	SIM1	HP:0001319	Neonatal hypotonia
6492	SIM1	HP:0001315	Reduced tendon reflexes
6492	SIM1	HP:0002615	Hypotension
6492	SIM1	HP:0012166	Skin-picking
6492	SIM1	HP:0000135	Hypogonadism
6492	SIM1	HP:0008947	Infantile muscular hypotonia
6492	SIM1	HP:0002714	Downturned corners of mouth
6492	SIM1	HP:0002033	Poor suck
6492	SIM1	HP:0005978	Type II diabetes mellitus
6492	SIM1	HP:0100543	Cognitive impairment
6492	SIM1	HP:0100503	Low levels of vitamin B1
6492	SIM1	HP:0008197	Absence of pubertal development
6492	SIM1	HP:0040288	Nasogastric tube feeding
6492	SIM1	HP:0011787	Central hypothyroidism
6492	SIM1	HP:0002119	Ventriculomegaly
6492	SIM1	HP:0002136	Broad-based gait
6492	SIM1	HP:0010536	Central sleep apnea
6492	SIM1	HP:0002205	Recurrent respiratory infections
6492	SIM1	HP:0007018	Attention deficit hyperactivity disorder
6492	SIM1	HP:0011968	Feeding difficulties
6492	SIM1	HP:0002370	Poor coordination
6492	SIM1	HP:0001010	Hypopigmentation of the skin
6492	SIM1	HP:0002354	Memory impairment
6492	SIM1	HP:0010829	Impaired temperature sensation
6492	SIM1	HP:0200055	Small hand
6492	SIM1	HP:0005599	Hypopigmentation of hair
6492	SIM1	HP:0001952	Glucose intolerance
6492	SIM1	HP:0001999	Abnormal facial shape
6492	SIM1	HP:0004322	Short stature
6492	SIM1	HP:0012743	Abdominal obesity
6492	SIM1	HP:0000765	Abnormal thorax morphology
6492	SIM1	HP:0000750	Delayed speech and language development
6492	SIM1	HP:0000729	Autistic behavior
6492	SIM1	HP:0000709	Psychosis
6492	SIM1	HP:0000708	Atypical behavior
6492	SIM1	HP:0012758	Neurodevelopmental delay
6492	SIM1	HP:0000789	Infertility
6492	SIM1	HP:0000786	Primary amenorrhea
6492	SIM1	HP:0000842	Hyperinsulinemia
6492	SIM1	HP:0000826	Precocious puberty
6492	SIM1	HP:0040030	Chorioretinal hypopigmentation
6492	SIM1	HP:0003241	External genital hypoplasia
6492	SIM1	HP:0000939	Osteoporosis
6492	SIM1	HP:0000938	Osteopenia
6492	SIM1	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency
6492	SIM1	HP:0000278	Retrognathia
6492	SIM1	HP:0000293	Full cheeks
6492	SIM1	HP:0000256	Macrocephaly
6492	SIM1	HP:0000217	Xerostomia
6492	SIM1	HP:0000219	Thin upper lip vermilion
6492	SIM1	HP:0002870	Obstructive sleep apnea
6492	SIM1	HP:0001508	Failure to thrive
6492	SIM1	HP:0001513	Obesity
6492	SIM1	HP:0007874	Almond-shaped palpebral fissure
6492	SIM1	HP:0001612	Weak cry
6492	SIM1	HP:0012339	Increased resting energy expenditure
6492	SIM1	HP:0000369	Low-set ears
6492	SIM1	HP:0000341	Narrow forehead
6492	SIM1	HP:0012332	Abnormal autonomic nervous system physiology
6492	SIM1	HP:0000337	Broad forehead
6492	SIM1	HP:0000347	Micrognathia
6492	SIM1	HP:0005307	Postural hypotension with compensatory tachycardia
6492	SIM1	HP:0005280	Depressed nasal bridge
6492	SIM1	HP:0000486	Strabismus
6492	SIM1	HP:0000478	Abnormality of the eye
6492	SIM1	HP:0000463	Anteverted nares
6492	SIM1	HP:0001773	Short foot
6492	SIM1	HP:0012411	Premature pubarche
6492	SIM1	HP:0012412	Premature adrenarche
6492	SIM1	HP:0000446	Narrow nasal bridge
6492	SIM1	HP:0000414	Bulbous nose
6492	SIM1	HP:0031703	Abnormal ear morphology
6492	SIM1	HP:0012506	Small pituitary gland
6492	SIM1	HP:0001833	Long foot
6492	SIM1	HP:0000582	Upslanted palpebral fissure
6492	SIM1	HP:0000574	Thick eyebrow
6495	SIX1	HP:0008609	Morphological abnormality of the middle ear
6495	SIX1	HP:0008586	Hypoplasia of the cochlea
6495	SIX1	HP:0008572	External ear malformation
6495	SIX1	HP:0008551	Microtia
6495	SIX1	HP:0002566	Intestinal malrotation
6495	SIX1	HP:0008678	Renal hypoplasia/aplasia
6495	SIX1	HP:0003829	Typified by incomplete penetrance
6495	SIX1	HP:0000083	Renal insufficiency
6495	SIX1	HP:0000076	Vesicoureteral reflux
6495	SIX1	HP:0000074	Ureteropelvic junction obstruction
6495	SIX1	HP:0001374	Congenital hip dislocation
6495	SIX1	HP:0000003	Multicystic kidney dysplasia
6495	SIX1	HP:0000006	Autosomal dominant inheritance
6495	SIX1	HP:0000193	Bifid uvula
6495	SIX1	HP:0000175	Cleft palate
6495	SIX1	HP:0007678	Lacrimal duct stenosis
6495	SIX1	HP:0000122	Unilateral renal agenesis
6495	SIX1	HP:0000113	Polycystic kidney dysplasia
6495	SIX1	HP:0000126	Hydronephrosis
6495	SIX1	HP:0000110	Renal dysplasia
6495	SIX1	HP:0002710	Commissural lip pit
6495	SIX1	HP:0002060	Abnormal cerebral morphology
6495	SIX1	HP:0004742	Abnormal renal collecting system morphology
6495	SIX1	HP:0004712	Renal malrotation
6495	SIX1	HP:0010628	Facial palsy
6495	SIX1	HP:0009795	Branchial fistula
6495	SIX1	HP:0009797	Cholesteatoma
6495	SIX1	HP:0009796	Branchial cyst
6495	SIX1	HP:0009798	Euthyroid goiter
6495	SIX1	HP:0011388	Enlarged cochlear aqueduct
6495	SIX1	HP:0000632	Lacrimation abnormality
6495	SIX1	HP:0000614	Abnormal nasolacrimal system morphology
6495	SIX1	HP:0011387	Enlarged vestibular aqueduct
6495	SIX1	HP:0011342	Mild global developmental delay
6495	SIX1	HP:0000691	Microdontia
6495	SIX1	HP:0011481	Abnormal lacrimal duct morphology
6495	SIX1	HP:0000799	Renal steatosis
6495	SIX1	HP:0004452	Abnormality of the middle ear ossicles
6495	SIX1	HP:0004467	Preauricular pit
6495	SIX1	HP:0004458	Dilatated internal auditory canal
6495	SIX1	HP:0100267	Lip pit
6495	SIX1	HP:0100274	Gustatory lacrimation
6495	SIX1	HP:0000278	Retrognathia
6495	SIX1	HP:0000275	Narrow face
6495	SIX1	HP:0000276	Long face
6495	SIX1	HP:0000218	High palate
6495	SIX1	HP:0011094	Increased overbite
6495	SIX1	HP:0000384	Preauricular skin tag
6495	SIX1	HP:0000378	Cupped ear
6495	SIX1	HP:0000365	Hearing impairment
6495	SIX1	HP:0000359	Abnormality of the inner ear
6495	SIX1	HP:0000356	Abnormality of the outer ear
6495	SIX1	HP:0000376	Incomplete partition of the cochlea type II
6495	SIX1	HP:0000347	Micrognathia
6495	SIX1	HP:0000324	Facial asymmetry
6495	SIX1	HP:0007925	Lacrimal duct aplasia
6495	SIX1	HP:0000407	Sensorineural hearing impairment
6495	SIX1	HP:0000405	Conductive hearing impairment
6495	SIX1	HP:0000402	Stenosis of the external auditory canal
6495	SIX1	HP:0000410	Mixed hearing impairment
6495	SIX1	HP:0000413	Atresia of the external auditory canal
6496	SIX3	HP:0002465	Poor speech
6496	SIX3	HP:0002474	Expressive language delay
6496	SIX3	HP:0002451	Limb dystonia
6496	SIX3	HP:0010941	Aplasia of the nasal bone
6496	SIX3	HP:0007301	Oromotor apraxia
6496	SIX3	HP:0009932	Single naris
6496	SIX3	HP:0009914	Cyclopia
6496	SIX3	HP:0002418	Abnormal midbrain morphology
6496	SIX3	HP:0003745	Sporadic
6496	SIX3	HP:0001290	Generalized hypotonia
6496	SIX3	HP:0001274	Agenesis of corpus callosum
6496	SIX3	HP:0001273	Abnormal corpus callosum morphology
6496	SIX3	HP:0001254	Lethargy
6496	SIX3	HP:0001250	Seizure
6496	SIX3	HP:0001252	Hypotonia
6496	SIX3	HP:0001249	Intellectual disability
6496	SIX3	HP:0001263	Global developmental delay
6496	SIX3	HP:0001257	Spasticity
6496	SIX3	HP:0008736	Hypoplasia of penis
6496	SIX3	HP:0007375	Abnormal septum pellucidum morphology
6496	SIX3	HP:0002540	Inability to walk
6496	SIX3	HP:0003829	Typified by incomplete penetrance
6496	SIX3	HP:0002507	Semilobar holoprosencephaly
6496	SIX3	HP:0000062	Ambiguous genitalia
6496	SIX3	HP:0001371	Flexion contracture
6496	SIX3	HP:0001355	Megalencephaly
6496	SIX3	HP:0001360	Holoprosencephaly
6496	SIX3	HP:0001328	Specific learning disability
6496	SIX3	HP:0001344	Absent speech
6496	SIX3	HP:0000006	Autosomal dominant inheritance
6496	SIX3	HP:0002650	Scoliosis
6496	SIX3	HP:0001321	Cerebellar hypoplasia
6496	SIX3	HP:0000193	Bifid uvula
6496	SIX3	HP:0000161	Median cleft lip
6496	SIX3	HP:0000176	Submucous cleft hard palate
6496	SIX3	HP:0000175	Cleft palate
6496	SIX3	HP:0006315	Solitary median maxillary central incisor
6496	SIX3	HP:0008947	Infantile muscular hypotonia
6496	SIX3	HP:0012110	Hypoplasia of the pons
6496	SIX3	HP:0000119	Abnormality of the genitourinary system
6496	SIX3	HP:0002793	Abnormal pattern of respiration
6496	SIX3	HP:0000104	Renal agenesis
6496	SIX3	HP:0002744	Bilateral cleft lip and palate
6496	SIX3	HP:0002020	Gastroesophageal reflux
6496	SIX3	HP:0002019	Constipation
6496	SIX3	HP:0002033	Poor suck
6496	SIX3	HP:0002015	Dysphagia
6496	SIX3	HP:0002013	Vomiting
6496	SIX3	HP:0040327	Abnormal morphology of the olfactory bulb
6496	SIX3	HP:0005968	Temperature instability
6496	SIX3	HP:0011800	Midface retrusion
6496	SIX3	HP:0002099	Asthma
6496	SIX3	HP:0011787	Central hypothyroidism
6496	SIX3	HP:0003468	Abnormal vertebral morphology
6496	SIX3	HP:0002120	Cerebral cortical atrophy
6496	SIX3	HP:0003458	EMG: myopathic abnormalities
6496	SIX3	HP:0002270	Abnormality of the autonomic nervous system
6496	SIX3	HP:0003577	Congenital onset
6496	SIX3	HP:0100704	Cerebral visual impairment
6496	SIX3	HP:0100710	Impulsivity
6496	SIX3	HP:0002247	Duodenal atresia
6496	SIX3	HP:0010654	Aplasia of the falx cerebri
6496	SIX3	HP:0007018	Attention deficit hyperactivity disorder
6496	SIX3	HP:0010644	Midnasal stenosis
6496	SIX3	HP:0011968	Feeding difficulties
6496	SIX3	HP:0010636	Schizencephaly
6496	SIX3	HP:0010626	Anterior pituitary agenesis
6496	SIX3	HP:0011951	Aspiration pneumonia
6496	SIX3	HP:0002363	Abnormal brainstem morphology
6496	SIX3	HP:0001028	Hemangioma
6496	SIX3	HP:0008501	Median cleft lip and palate
6496	SIX3	HP:0010804	Tented upper lip vermilion
6496	SIX3	HP:0009800	Maternal diabetes
6496	SIX3	HP:0010757	Aplasia of the premaxilla
6496	SIX3	HP:0031860	Abnormal heart rate variability
6496	SIX3	HP:0000612	Iris coloboma
6496	SIX3	HP:0000601	Hypotelorism
6496	SIX3	HP:0009062	Infantile axial hypotonia
6496	SIX3	HP:0012650	Perisylvian polymicrogyria
6496	SIX3	HP:0006988	Alobar holoprosencephaly
6496	SIX3	HP:0004322	Short stature
6496	SIX3	HP:0006979	Sleep-wake cycle disturbance
6496	SIX3	HP:0030680	Abnormality of cardiovascular system morphology
6496	SIX3	HP:0031913	Rhombencephalosynapsis
6496	SIX3	HP:0000772	Abnormal rib morphology
6496	SIX3	HP:0000737	Irritability
6496	SIX3	HP:0000739	Anxiety
6496	SIX3	HP:0000736	Short attention span
6496	SIX3	HP:0012718	Morphological abnormality of the gastrointestinal tract
6496	SIX3	HP:0000741	Apathy
6496	SIX3	HP:0000716	Depression
6496	SIX3	HP:0000708	Atypical behavior
6496	SIX3	HP:0011471	Gastrostomy tube feeding in infancy
6496	SIX3	HP:0011442	Abnormal central motor function
6496	SIX3	HP:0003196	Short nose
6496	SIX3	HP:0000924	Abnormality of the skeletal system
6496	SIX3	HP:0004478	Ethmoidal encephalocele
6496	SIX3	HP:0000873	Diabetes insipidus
6496	SIX3	HP:0000871	Panhypopituitarism
6496	SIX3	HP:0000863	Central diabetes insipidus
6496	SIX3	HP:0000835	Adrenal hypoplasia
6496	SIX3	HP:0000830	Anterior hypopituitarism
6496	SIX3	HP:0012806	Proboscis
6496	SIX3	HP:0000818	Abnormality of the endocrine system
6496	SIX3	HP:0000826	Precocious puberty
6496	SIX3	HP:0000821	Hypothyroidism
6496	SIX3	HP:0000824	Decreased response to growth hormone stimulation test
6496	SIX3	HP:0040064	Abnormality of limbs
6496	SIX3	HP:0045005	Neural tube defect
6496	SIX3	HP:0012285	Abnormal hypothalamus physiology
6496	SIX3	HP:0000256	Macrocephaly
6496	SIX3	HP:0000272	Malar flattening
6496	SIX3	HP:0002827	Hip dislocation
6496	SIX3	HP:0000238	Hydrocephalus
6496	SIX3	HP:0000252	Microcephaly
6496	SIX3	HP:0000218	High palate
6496	SIX3	HP:0001545	Anteriorly placed anus
6496	SIX3	HP:0002871	Central apnea
6496	SIX3	HP:0000202	Orofacial cleft
6496	SIX3	HP:0001508	Failure to thrive
6496	SIX3	HP:0001511	Intrauterine growth retardation
6496	SIX3	HP:0001510	Growth delay
6496	SIX3	HP:0006528	Chronic lung disease
6496	SIX3	HP:0001680	Coarctation of aorta
6496	SIX3	HP:0000322	Short philtrum
6496	SIX3	HP:0001627	Abnormal heart morphology
6496	SIX3	HP:0001622	Premature birth
6496	SIX3	HP:0001636	Tetralogy of Fallot
6496	SIX3	HP:0007968	Remnants of the hyaloid vascular system
6496	SIX3	HP:0000407	Sensorineural hearing impairment
6496	SIX3	HP:0005273	Absent nasal septal cartilage
6496	SIX3	HP:0000486	Strabismus
6496	SIX3	HP:0000478	Abnormality of the eye
6496	SIX3	HP:0000463	Anteverted nares
6496	SIX3	HP:0000457	Depressed nasal ridge
6496	SIX3	HP:0000453	Choanal atresia
6496	SIX3	HP:0000446	Narrow nasal bridge
6496	SIX3	HP:0001750	Single ventricle
6496	SIX3	HP:0000520	Proptosis
6496	SIX3	HP:0000568	Microphthalmia
6496	SIX3	HP:0000567	Chorioretinal coloboma
6497	SKI	HP:0001156	Brachydactyly
6497	SKI	HP:0001166	Arachnodactyly
6497	SKI	HP:0002465	Poor speech
6497	SKI	HP:0001107	Ocular albinism
6497	SKI	HP:0008551	Microtia
6497	SKI	HP:0003745	Sporadic
6497	SKI	HP:0003717	Minimal subcutaneous fat
6497	SKI	HP:0001290	Generalized hypotonia
6497	SKI	HP:0001274	Agenesis of corpus callosum
6497	SKI	HP:0001288	Gait disturbance
6497	SKI	HP:0001250	Seizure
6497	SKI	HP:0001252	Hypotonia
6497	SKI	HP:0001249	Intellectual disability
6497	SKI	HP:0002591	Polyphagia
6497	SKI	HP:0001263	Global developmental delay
6497	SKI	HP:0008736	Hypoplasia of penis
6497	SKI	HP:0001397	Hepatic steatosis
6497	SKI	HP:0001392	Abnormality of the liver
6497	SKI	HP:0000077	Abnormality of the kidney
6497	SKI	HP:0000055	Abnormality of female external genitalia
6497	SKI	HP:0001385	Hip dysplasia
6497	SKI	HP:0001388	Joint laxity
6497	SKI	HP:0001387	Joint stiffness
6497	SKI	HP:0001382	Joint hypermobility
6497	SKI	HP:0000047	Hypospadias
6497	SKI	HP:0000023	Inguinal hernia
6497	SKI	HP:0001363	Craniosynostosis
6497	SKI	HP:0000028	Cryptorchidism
6497	SKI	HP:0008872	Feeding difficulties in infancy
6497	SKI	HP:0001344	Absent speech
6497	SKI	HP:0001334	Communicating hydrocephalus
6497	SKI	HP:0000006	Autosomal dominant inheritance
6497	SKI	HP:0002650	Scoliosis
6497	SKI	HP:0000189	Narrow palate
6497	SKI	HP:0000160	Narrow mouth
6497	SKI	HP:0000135	Hypogonadism
6497	SKI	HP:0002705	High, narrow palate
6497	SKI	HP:0000126	Hydronephrosis
6497	SKI	HP:0000107	Renal cyst
6497	SKI	HP:0002715	Abnormality of the immune system
6497	SKI	HP:0002021	Pyloric stenosis
6497	SKI	HP:0002020	Gastroesophageal reflux
6497	SKI	HP:0002019	Constipation
6497	SKI	HP:0002015	Dysphagia
6497	SKI	HP:0002007	Frontal bossing
6497	SKI	HP:0003312	Abnormal form of the vertebral bodies
6497	SKI	HP:0011800	Midface retrusion
6497	SKI	HP:0100559	Lower limb asymmetry
6497	SKI	HP:0009473	Joint contracture of the hand
6497	SKI	HP:0002120	Cerebral cortical atrophy
6497	SKI	HP:0002119	Ventriculomegaly
6497	SKI	HP:0002104	Apnea
6497	SKI	HP:0003416	Spinal canal stenosis
6497	SKI	HP:0002167	Abnormality of speech or vocalization
6497	SKI	HP:0100490	Camptodactyly of finger
6497	SKI	HP:0002242	Abnormal intestine morphology
6497	SKI	HP:0100716	Self-injurious behavior
6497	SKI	HP:0002230	Generalized hirsutism
6497	SKI	HP:0007099	Chiari type I malformation
6497	SKI	HP:0001009	Telangiectasia
6497	SKI	HP:0002353	EEG abnormality
6497	SKI	HP:0008499	High hypermetropia
6497	SKI	HP:0008440	C1-C2 vertebral abnormality
6497	SKI	HP:0002308	Chiari malformation
6497	SKI	HP:0004942	Aortic aneurysm
6497	SKI	HP:0004209	Clinodactyly of the 5th finger
6497	SKI	HP:0006824	Cranial nerve paralysis
6497	SKI	HP:0000639	Nystagmus
6497	SKI	HP:0000648	Optic atrophy
6497	SKI	HP:0009023	Abdominal wall muscle weakness
6497	SKI	HP:0000689	Dental malocclusion
6497	SKI	HP:0004322	Short stature
6497	SKI	HP:0030680	Abnormality of cardiovascular system morphology
6497	SKI	HP:0003083	Dislocated radial head
6497	SKI	HP:0005692	Joint hyperflexibility
6497	SKI	HP:0004378	Abnormality of the anus
6497	SKI	HP:0004374	Hemiplegia/hemiparesis
6497	SKI	HP:0003042	Elbow dislocation
6497	SKI	HP:0003016	Metaphyseal widening
6497	SKI	HP:0003006	Neuroblastoma
6497	SKI	HP:0012733	Macule
6497	SKI	HP:0000767	Pectus excavatum
6497	SKI	HP:0000768	Pectus carinatum
6497	SKI	HP:0000733	Abnormal repetitive mannerisms
6497	SKI	HP:0000750	Delayed speech and language development
6497	SKI	HP:0000717	Autism
6497	SKI	HP:0000708	Atypical behavior
6497	SKI	HP:0000774	Narrow chest
6497	SKI	HP:0003198	Myopathy
6497	SKI	HP:0000921	Missing ribs
6497	SKI	HP:0000902	Rib fusion
6497	SKI	HP:0000878	11 pairs of ribs
6497	SKI	HP:0000892	Bifid ribs
6497	SKI	HP:0000883	Thin ribs
6497	SKI	HP:0000821	Hypothyroidism
6497	SKI	HP:0000895	Lateral clavicle hook
6497	SKI	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
6497	SKI	HP:0000974	Hyperextensible skin
6497	SKI	HP:0000938	Osteopenia
6497	SKI	HP:0000944	Abnormal metaphysis morphology
6497	SKI	HP:0005815	Supernumerary ribs
6497	SKI	HP:0008066	Abnormal blistering of the skin
6497	SKI	HP:0000286	Epicanthus
6497	SKI	HP:0000278	Retrognathia
6497	SKI	HP:0000260	Wide anterior fontanel
6497	SKI	HP:0000270	Delayed cranial suture closure
6497	SKI	HP:0000268	Dolichocephaly
6497	SKI	HP:0005113	Aortic arch aneurysm
6497	SKI	HP:0002816	Genu recurvatum
6497	SKI	HP:0002808	Kyphosis
6497	SKI	HP:0000244	Brachyturricephaly
6497	SKI	HP:0000238	Hydrocephalus
6497	SKI	HP:0000252	Microcephaly
6497	SKI	HP:0000248	Brachycephaly
6497	SKI	HP:0000218	High palate
6497	SKI	HP:0002857	Genu valgum
6497	SKI	HP:0002870	Obstructive sleep apnea
6497	SKI	HP:0001537	Umbilical hernia
6497	SKI	HP:0001508	Failure to thrive
6497	SKI	HP:0001513	Obesity
6497	SKI	HP:0012385	Camptodactyly
6497	SKI	HP:0000377	Abnormal pinna morphology
6497	SKI	HP:0006487	Bowing of the long bones
6497	SKI	HP:0000358	Posteriorly rotated ears
6497	SKI	HP:0000369	Low-set ears
6497	SKI	HP:0000368	Low-set, posteriorly rotated ears
6497	SKI	HP:0001671	Abnormal cardiac septum morphology
6497	SKI	HP:0000343	Long philtrum
6497	SKI	HP:0000348	High forehead
6497	SKI	HP:0000347	Micrognathia
6497	SKI	HP:0000316	Hypertelorism
6497	SKI	HP:0001646	Abnormal aortic valve morphology
6497	SKI	HP:0001643	Patent ductus arteriosus
6497	SKI	HP:0001644	Dilated cardiomyopathy
6497	SKI	HP:0000327	Hypoplasia of the maxilla
6497	SKI	HP:0001654	Abnormal heart valve morphology
6497	SKI	HP:0001653	Mitral regurgitation
6497	SKI	HP:0001636	Tetralogy of Fallot
6497	SKI	HP:0000307	Pointed chin
6497	SKI	HP:0001634	Mitral valve prolapse
6497	SKI	HP:0000407	Sensorineural hearing impairment
6497	SKI	HP:0001734	Annular pancreas
6497	SKI	HP:0000405	Conductive hearing impairment
6497	SKI	HP:0005280	Depressed nasal bridge
6497	SKI	HP:0000486	Strabismus
6497	SKI	HP:0000494	Downslanted palpebral fissures
6497	SKI	HP:0000490	Deeply set eye
6497	SKI	HP:0000464	Abnormality of the neck
6497	SKI	HP:0000463	Anteverted nares
6497	SKI	HP:0000457	Depressed nasal ridge
6497	SKI	HP:0001773	Short foot
6497	SKI	HP:0001763	Pes planus
6497	SKI	HP:0000411	Protruding ear
6497	SKI	HP:0001743	Abnormality of the spleen
6497	SKI	HP:0001762	Talipes equinovarus
6497	SKI	HP:0000431	Wide nasal bridge
6497	SKI	HP:0000518	Cataract
6497	SKI	HP:0001840	Metatarsus adductus
6497	SKI	HP:0000520	Proptosis
6497	SKI	HP:0001829	Foot polydactyly
6497	SKI	HP:0000506	Telecanthus
6497	SKI	HP:0000508	Ptosis
6497	SKI	HP:0000505	Visual impairment
6497	SKI	HP:0000504	Abnormality of vision
6497	SKI	HP:0011228	Horizontal eyebrow
6497	SKI	HP:0000586	Shallow orbits
6497	SKI	HP:0011220	Prominent forehead
6497	SKI	HP:0000534	Abnormal eyebrow morphology
6497	SKI	HP:0000545	Myopia
6499	SKIC2	HP:0025156	Dependency on intravenous nutrition
6499	SKIC2	HP:0009886	Trichorrhexis nodosa
6499	SKIC2	HP:0001256	Intellectual disability, mild
6499	SKIC2	HP:0002583	Colitis
6499	SKIC2	HP:0001263	Global developmental delay
6499	SKIC2	HP:0000089	Renal hypoplasia
6499	SKIC2	HP:0001392	Abnormality of the liver
6499	SKIC2	HP:0001395	Hepatic fibrosis
6499	SKIC2	HP:0001394	Cirrhosis
6499	SKIC2	HP:0000023	Inguinal hernia
6499	SKIC2	HP:0007513	Generalized hypopigmentation
6499	SKIC2	HP:0000007	Autosomal recessive inheritance
6499	SKIC2	HP:0000113	Polycystic kidney dysplasia
6499	SKIC2	HP:0002719	Recurrent infections
6499	SKIC2	HP:0002721	Immunodeficiency
6499	SKIC2	HP:0040303	Decreased serum iron
6499	SKIC2	HP:0002028	Chronic diarrhea
6499	SKIC2	HP:0002014	Diarrhea
6499	SKIC2	HP:0002041	Intractable diarrhea
6499	SKIC2	HP:0011877	Increased mean platelet volume
6499	SKIC2	HP:0003593	Infantile onset
6499	SKIC2	HP:0002240	Hepatomegaly
6499	SKIC2	HP:0002224	Woolly hair
6499	SKIC2	HP:0200123	Chronic hepatitis
6499	SKIC2	HP:0002299	Brittle hair
6499	SKIC2	HP:0025085	Bloody diarrhea
6499	SKIC2	HP:0003623	Neonatal onset
6499	SKIC2	HP:0004969	Peripheral pulmonary artery stenosis
6499	SKIC2	HP:0005599	Hypopigmentation of hair
6499	SKIC2	HP:0001999	Abnormal facial shape
6499	SKIC2	HP:0004322	Short stature
6499	SKIC2	HP:0011473	Villous atrophy
6499	SKIC2	HP:0011461	Fetal onset
6499	SKIC2	HP:0000778	Hypoplasia of the thymus
6499	SKIC2	HP:0003139	Panhypogammaglobulinemia
6499	SKIC2	HP:0000821	Hypothyroidism
6499	SKIC2	HP:0000958	Dry skin
6499	SKIC2	HP:0000957	Cafe-au-lait spot
6499	SKIC2	HP:0008070	Sparse hair
6499	SKIC2	HP:0030056	Uncombable hair
6499	SKIC2	HP:0002884	Hepatoblastoma
6499	SKIC2	HP:0001508	Failure to thrive
6499	SKIC2	HP:0001518	Small for gestational age
6499	SKIC2	HP:0001511	Intrauterine growth retardation
6499	SKIC2	HP:0011031	Abnormality of iron homeostasis
6499	SKIC2	HP:0005263	Gastritis
6499	SKIC2	HP:0000337	Broad forehead
6499	SKIC2	HP:0001647	Bicuspid aortic valve
6499	SKIC2	HP:0000316	Hypertelorism
6499	SKIC2	HP:0001643	Patent ductus arteriosus
6499	SKIC2	HP:0001659	Aortic regurgitation
6499	SKIC2	HP:0001629	Ventricular septal defect
6499	SKIC2	HP:0001627	Abnormal heart morphology
6499	SKIC2	HP:0001622	Premature birth
6499	SKIC2	HP:0001636	Tetralogy of Fallot
6499	SKIC2	HP:0001631	Atrial septal defect
6499	SKIC2	HP:0005280	Depressed nasal bridge
6499	SKIC2	HP:0011121	Abnormality of skin morphology
6499	SKIC2	HP:0001744	Splenomegaly
6499	SKIC2	HP:0000431	Wide nasal bridge
6499	SKIC2	HP:0000501	Glaucoma
6499	SKIC2	HP:0001894	Thrombocytosis
6499	SKIC2	HP:0011220	Prominent forehead
6499	SKIC2	HP:0001888	Lymphopenia
6505	SLC1A1	HP:0001249	Intellectual disability
6505	SLC1A1	HP:0032401	Aspartic aciduria
6505	SLC1A1	HP:0000007	Autosomal recessive inheritance
6505	SLC1A1	HP:0003355	Aminoaciduria
6505	SLC1A1	HP:0000787	Nephrolithiasis
6505	SLC1A1	HP:0003162	Fasting hypoglycemia
6506	SLC1A2	HP:0010864	Intellectual disability, severe
6506	SLC1A2	HP:0002421	Poor head control
6506	SLC1A2	HP:0001298	Encephalopathy
6506	SLC1A2	HP:0001290	Generalized hypotonia
6506	SLC1A2	HP:0001273	Abnormal corpus callosum morphology
6506	SLC1A2	HP:0001268	Mental deterioration
6506	SLC1A2	HP:0001254	Lethargy
6506	SLC1A2	HP:0001250	Seizure
6506	SLC1A2	HP:0001251	Ataxia
6506	SLC1A2	HP:0001249	Intellectual disability
6506	SLC1A2	HP:0001265	Hyporeflexia
6506	SLC1A2	HP:0001263	Global developmental delay
6506	SLC1A2	HP:0001257	Spasticity
6506	SLC1A2	HP:0002540	Inability to walk
6506	SLC1A2	HP:0002521	Hypsarrhythmia
6506	SLC1A2	HP:0002509	Limb hypertonia
6506	SLC1A2	HP:0001371	Flexion contracture
6506	SLC1A2	HP:0001344	Absent speech
6506	SLC1A2	HP:0001337	Tremor
6506	SLC1A2	HP:0000006	Autosomal dominant inheritance
6506	SLC1A2	HP:0001336	Myoclonus
6506	SLC1A2	HP:0001315	Reduced tendon reflexes
6506	SLC1A2	HP:0008936	Axial hypotonia
6506	SLC1A2	HP:0000121	Nephrocalcinosis
6506	SLC1A2	HP:0002751	Kyphoscoliosis
6506	SLC1A2	HP:0002020	Gastroesophageal reflux
6506	SLC1A2	HP:0002069	Bilateral tonic-clonic seizure
6506	SLC1A2	HP:0002063	Rigidity
6506	SLC1A2	HP:0002079	Hypoplasia of the corpus callosum
6506	SLC1A2	HP:0002059	Cerebral atrophy
6506	SLC1A2	HP:0003487	Babinski sign
6506	SLC1A2	HP:0002133	Status epilepticus
6506	SLC1A2	HP:0002188	Delayed CNS myelination
6506	SLC1A2	HP:0002187	Intellectual disability, profound
6506	SLC1A2	HP:0003593	Infantile onset
6506	SLC1A2	HP:0002273	Tetraparesis
6506	SLC1A2	HP:0100710	Impulsivity
6506	SLC1A2	HP:0200134	Epileptic encephalopathy
6506	SLC1A2	HP:0007018	Attention deficit hyperactivity disorder
6506	SLC1A2	HP:0011968	Feeding difficulties
6506	SLC1A2	HP:0002376	Developmental regression
6506	SLC1A2	HP:0002355	Difficulty walking
6506	SLC1A2	HP:0002353	EEG abnormality
6506	SLC1A2	HP:0002317	Unsteady gait
6506	SLC1A2	HP:0010844	EEG with multifocal slow activity
6506	SLC1A2	HP:0100660	Dyskinesia
6506	SLC1A2	HP:0010818	Generalized tonic seizure
6506	SLC1A2	HP:0003623	Neonatal onset
6506	SLC1A2	HP:0000639	Nystagmus
6506	SLC1A2	HP:0000648	Optic atrophy
6506	SLC1A2	HP:0000684	Delayed eruption of teeth
6506	SLC1A2	HP:0000668	Hypodontia
6506	SLC1A2	HP:0004322	Short stature
6506	SLC1A2	HP:0004305	Involuntary movements
6506	SLC1A2	HP:0000737	Irritability
6506	SLC1A2	HP:0000750	Delayed speech and language development
6506	SLC1A2	HP:0000717	Autism
6506	SLC1A2	HP:0000708	Atypical behavior
6506	SLC1A2	HP:0011443	Abnormality of coordination
6506	SLC1A2	HP:0000252	Microcephaly
6506	SLC1A2	HP:0032667	Myoclonic status epilepticus
6506	SLC1A2	HP:0001558	Decreased fetal movement
6506	SLC1A2	HP:0001508	Failure to thrive
6506	SLC1A2	HP:0011097	Epileptic spasm
6506	SLC1A2	HP:0000348	High forehead
6506	SLC1A2	HP:0032794	Myoclonic seizure
6506	SLC1A2	HP:0031475	Status epilepticus without prominent motor symptoms
6506	SLC1A2	HP:0011167	Focal tonic seizure
6506	SLC1A2	HP:0000494	Downslanted palpebral fissures
6506	SLC1A2	HP:0012444	Brain atrophy
6506	SLC1A2	HP:0012447	Abnormal myelination
6506	SLC1A2	HP:0000508	Ptosis
6506	SLC1A2	HP:0000504	Abnormality of vision
6506	SLC1A2	HP:0012547	Abnormal involuntary eye movements
6506	SLC1A2	HP:0000546	Retinal degeneration
6507	SLC1A3	HP:0002483	Bulbar signs
6507	SLC1A3	HP:0007256	Abnormal pyramidal sign
6507	SLC1A3	HP:0001272	Cerebellar atrophy
6507	SLC1A3	HP:0001270	Motor delay
6507	SLC1A3	HP:0001269	Hemiparesis
6507	SLC1A3	HP:0001284	Areflexia
6507	SLC1A3	HP:0001250	Seizure
6507	SLC1A3	HP:0001252	Hypotonia
6507	SLC1A3	HP:0001251	Ataxia
6507	SLC1A3	HP:0002579	Gastrointestinal dysmotility
6507	SLC1A3	HP:0001249	Intellectual disability
6507	SLC1A3	HP:0001266	Choreoathetosis
6507	SLC1A3	HP:0001260	Dysarthria
6507	SLC1A3	HP:0410263	Brain imaging abnormality
6507	SLC1A3	HP:0001350	Slurred speech
6507	SLC1A3	HP:0001347	Hyperreflexia
6507	SLC1A3	HP:0001332	Dystonia
6507	SLC1A3	HP:0001337	Tremor
6507	SLC1A3	HP:0000006	Autosomal dominant inheritance
6507	SLC1A3	HP:0001321	Cerebellar hypoplasia
6507	SLC1A3	HP:0012194	Episodic hemiplegia
6507	SLC1A3	HP:0007663	Reduced visual acuity
6507	SLC1A3	HP:0031284	Flushing
6507	SLC1A3	HP:0002714	Downturned corners of mouth
6507	SLC1A3	HP:0002018	Nausea
6507	SLC1A3	HP:0002019	Constipation
6507	SLC1A3	HP:0002017	Nausea and vomiting
6507	SLC1A3	HP:0002014	Diarrhea
6507	SLC1A3	HP:0002015	Dysphagia
6507	SLC1A3	HP:0002013	Vomiting
6507	SLC1A3	HP:0002098	Respiratory distress
6507	SLC1A3	HP:0002069	Bilateral tonic-clonic seizure
6507	SLC1A3	HP:0002063	Rigidity
6507	SLC1A3	HP:0002078	Truncal ataxia
6507	SLC1A3	HP:0002076	Migraine
6507	SLC1A3	HP:0002072	Chorea
6507	SLC1A3	HP:0002039	Anorexia
6507	SLC1A3	HP:0002133	Status epilepticus
6507	SLC1A3	HP:0002131	Episodic ataxia
6507	SLC1A3	HP:0002104	Apnea
6507	SLC1A3	HP:0002183	Phonophobia
6507	SLC1A3	HP:0002263	Exaggerated cupid's bow
6507	SLC1A3	HP:0003593	Infantile onset
6507	SLC1A3	HP:0002273	Tetraparesis
6507	SLC1A3	HP:0100710	Impulsivity
6507	SLC1A3	HP:0200136	Oral-pharyngeal dysphagia
6507	SLC1A3	HP:0002344	Progressive neurologic deterioration
6507	SLC1A3	HP:0002353	EEG abnormality
6507	SLC1A3	HP:0002321	Vertigo
6507	SLC1A3	HP:0002315	Headache
6507	SLC1A3	HP:0007166	Paroxysmal dyskinesia
6507	SLC1A3	HP:0002301	Hemiplegia
6507	SLC1A3	HP:0006852	Episodic generalized hypotonia
6507	SLC1A3	HP:0000640	Gaze-evoked nystagmus
6507	SLC1A3	HP:0000639	Nystagmus
6507	SLC1A3	HP:0000651	Diplopia
6507	SLC1A3	HP:0000613	Photophobia
6507	SLC1A3	HP:0001944	Dehydration
6507	SLC1A3	HP:0000657	Oculomotor apraxia
6507	SLC1A3	HP:0031931	Ocular flutter
6507	SLC1A3	HP:0000750	Delayed speech and language development
6507	SLC1A3	HP:0000718	Aggressive behavior
6507	SLC1A3	HP:0000712	Emotional lability
6507	SLC1A3	HP:0000708	Atypical behavior
6507	SLC1A3	HP:0011499	Mydriasis
6507	SLC1A3	HP:0012758	Neurodevelopmental delay
6507	SLC1A3	HP:0003270	Abdominal distention
6507	SLC1A3	HP:0045074	Thin eyebrow
6507	SLC1A3	HP:0000980	Pallor
6507	SLC1A3	HP:0000975	Hyperhidrosis
6507	SLC1A3	HP:0011675	Arrhythmia
6507	SLC1A3	HP:0000297	Facial hypotonia
6507	SLC1A3	HP:0005135	Abnormal T-wave
6507	SLC1A3	HP:0032649	Skewfoot
6507	SLC1A3	HP:0001508	Failure to thrive
6507	SLC1A3	HP:0002835	Aspiration
6507	SLC1A3	HP:0011024	Abnormality of the gastrointestinal tract
6507	SLC1A3	HP:0012332	Abnormal autonomic nervous system physiology
6507	SLC1A3	HP:0000348	High forehead
6507	SLC1A3	HP:0001638	Cardiomyopathy
6507	SLC1A3	HP:0011153	Focal motor seizure
6507	SLC1A3	HP:0031546	Cardiac conduction abnormality
6507	SLC1A3	HP:0000577	Exotropia
6507	SLC1A3	HP:0012547	Abnormal involuntary eye movements
6507	SLC1A3	HP:0000571	Hypometric saccades
6507	SLC1A3	HP:0000565	Esotropia
6508	SLC4A3	HP:0001279	Syncope
6508	SLC4A3	HP:0000006	Autosomal dominant inheritance
6508	SLC4A3	HP:0003621	Juvenile onset
6508	SLC4A3	HP:0001962	Palpitations
6508	SLC4A3	HP:0004308	Ventricular arrhythmia
6508	SLC4A3	HP:0011462	Young adult onset
6508	SLC4A3	HP:0005110	Atrial fibrillation
6508	SLC4A3	HP:0012232	Shortened QT interval
6508	SLC4A3	HP:0001695	Cardiac arrest
6508	SLC4A3	HP:0001678	Atrioventricular block
6508	SLC4A3	HP:0001645	Sudden cardiac death
6508	SLC4A3	HP:0001663	Ventricular fibrillation
6508	SLC4A3	HP:0001662	Bradycardia
6509	SLC1A4	HP:0003739	Myoclonic spasms
6509	SLC1A4	HP:0001276	Hypertonia
6509	SLC1A4	HP:0001270	Motor delay
6509	SLC1A4	HP:0001250	Seizure
6509	SLC1A4	HP:0001252	Hypotonia
6509	SLC1A4	HP:0001249	Intellectual disability
6509	SLC1A4	HP:0001263	Global developmental delay
6509	SLC1A4	HP:0001257	Spasticity
6509	SLC1A4	HP:0002540	Inability to walk
6509	SLC1A4	HP:0002521	Hypsarrhythmia
6509	SLC1A4	HP:0002510	Spastic tetraplegia
6509	SLC1A4	HP:0002500	Abnormal cerebral white matter morphology
6509	SLC1A4	HP:0000020	Urinary incontinence
6509	SLC1A4	HP:0001348	Brisk reflexes
6509	SLC1A4	HP:0001347	Hyperreflexia
6509	SLC1A4	HP:0033725	Thin corpus callosum
6509	SLC1A4	HP:0001344	Absent speech
6509	SLC1A4	HP:0000007	Autosomal recessive inheritance
6509	SLC1A4	HP:0012167	Hair-pulling
6509	SLC1A4	HP:0002020	Gastroesophageal reflux
6509	SLC1A4	HP:0002015	Dysphagia
6509	SLC1A4	HP:0002069	Bilateral tonic-clonic seizure
6509	SLC1A4	HP:0002061	Lower limb spasticity
6509	SLC1A4	HP:0002079	Hypoplasia of the corpus callosum
6509	SLC1A4	HP:0002059	Cerebral atrophy
6509	SLC1A4	HP:0003487	Babinski sign
6509	SLC1A4	HP:0002188	Delayed CNS myelination
6509	SLC1A4	HP:0002197	Generalized-onset seizure
6509	SLC1A4	HP:0002169	Clonus
6509	SLC1A4	HP:0003593	Infantile onset
6509	SLC1A4	HP:0002205	Recurrent respiratory infections
6509	SLC1A4	HP:0002307	Drooling
6509	SLC1A4	HP:0006808	Cerebral hypomyelination
6509	SLC1A4	HP:0001999	Abnormal facial shape
6509	SLC1A4	HP:0000664	Synophrys
6509	SLC1A4	HP:0000752	Hyperactivity
6509	SLC1A4	HP:0000737	Irritability
6509	SLC1A4	HP:0000733	Abnormal repetitive mannerisms
6509	SLC1A4	HP:0000750	Delayed speech and language development
6509	SLC1A4	HP:0011471	Gastrostomy tube feeding in infancy
6509	SLC1A4	HP:0011448	Ankle clonus
6509	SLC1A4	HP:0011451	Primary microcephaly
6509	SLC1A4	HP:0006466	Ankle flexion contracture
6509	SLC1A4	HP:0002828	Multiple joint contractures
6509	SLC1A4	HP:0000253	Progressive microcephaly
6509	SLC1A4	HP:0000252	Microcephaly
6509	SLC1A4	HP:0000369	Low-set ears
6509	SLC1A4	HP:0000316	Hypertelorism
6509	SLC1A4	HP:0005280	Depressed nasal bridge
6509	SLC1A4	HP:0012469	Infantile spasms
6509	SLC1A4	HP:0012444	Brain atrophy
6509	SLC1A4	HP:0000411	Protruding ear
6509	SLC1A4	HP:0000431	Wide nasal bridge
6509	SLC1A4	HP:0005484	Secondary microcephaly
6513	SLC2A1	HP:0001156	Brachydactyly
6513	SLC2A1	HP:0025116	Fetal distress
6513	SLC2A1	HP:0002490	Increased CSF lactate
6513	SLC2A1	HP:0001159	Syndactyly
6513	SLC2A1	HP:0007308	Extrapyramidal dyskinesia
6513	SLC2A1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
6513	SLC2A1	HP:0010920	Zonular cataract
6513	SLC2A1	HP:0009928	Thick nasal alae
6513	SLC2A1	HP:0007256	Abnormal pyramidal sign
6513	SLC2A1	HP:0007229	Intracerebral periventricular calcifications
6513	SLC2A1	HP:0001298	Encephalopathy
6513	SLC2A1	HP:0001276	Hypertonia
6513	SLC2A1	HP:0001269	Hemiparesis
6513	SLC2A1	HP:0001289	Confusion
6513	SLC2A1	HP:0001254	Lethargy
6513	SLC2A1	HP:0001256	Intellectual disability, mild
6513	SLC2A1	HP:0001250	Seizure
6513	SLC2A1	HP:0001252	Hypotonia
6513	SLC2A1	HP:0001251	Ataxia
6513	SLC2A1	HP:0001249	Intellectual disability
6513	SLC2A1	HP:0001266	Choreoathetosis
6513	SLC2A1	HP:0001260	Dysarthria
6513	SLC2A1	HP:0001263	Global developmental delay
6513	SLC2A1	HP:0001258	Spastic paraplegia
6513	SLC2A1	HP:0001257	Spasticity
6513	SLC2A1	HP:0410263	Brain imaging abnormality
6513	SLC2A1	HP:0100851	Abnormal emotion/affect behavior
6513	SLC2A1	HP:0007359	Focal-onset seizure
6513	SLC2A1	HP:0002540	Inability to walk
6513	SLC2A1	HP:0003828	Variable expressivity
6513	SLC2A1	HP:0003829	Typified by incomplete penetrance
6513	SLC2A1	HP:0000020	Urinary incontinence
6513	SLC2A1	HP:0001347	Hyperreflexia
6513	SLC2A1	HP:0008897	Postnatal growth retardation
6513	SLC2A1	HP:0001332	Dystonia
6513	SLC2A1	HP:0001328	Specific learning disability
6513	SLC2A1	HP:0001326	EEG with irregular generalized spike and wave complexes
6513	SLC2A1	HP:0001344	Absent speech
6513	SLC2A1	HP:0000007	Autosomal recessive inheritance
6513	SLC2A1	HP:0001334	Communicating hydrocephalus
6513	SLC2A1	HP:0001337	Tremor
6513	SLC2A1	HP:0000006	Autosomal dominant inheritance
6513	SLC2A1	HP:0001336	Myoclonus
6513	SLC2A1	HP:0001304	Torsion dystonia
6513	SLC2A1	HP:0000179	Thick lower lip vermilion
6513	SLC2A1	HP:0000154	Wide mouth
6513	SLC2A1	HP:0001433	Hepatosplenomegaly
6513	SLC2A1	HP:0002719	Recurrent infections
6513	SLC2A1	HP:0100543	Cognitive impairment
6513	SLC2A1	HP:0002069	Bilateral tonic-clonic seizure
6513	SLC2A1	HP:0002061	Lower limb spasticity
6513	SLC2A1	HP:0002062	Morphological abnormality of the pyramidal tract
6513	SLC2A1	HP:0002076	Migraine
6513	SLC2A1	HP:0002072	Chorea
6513	SLC2A1	HP:0030948	Elevated gamma-glutamyltransferase level
6513	SLC2A1	HP:0002059	Cerebral atrophy
6513	SLC2A1	HP:0003470	Paralysis
6513	SLC2A1	HP:0003487	Babinski sign
6513	SLC2A1	HP:0002153	Hyperkalemia
6513	SLC2A1	HP:0002123	Generalized myoclonic seizure
6513	SLC2A1	HP:0002121	Generalized non-motor (absence) seizure
6513	SLC2A1	HP:0002133	Status epilepticus
6513	SLC2A1	HP:0002131	Episodic ataxia
6513	SLC2A1	HP:0002188	Delayed CNS myelination
6513	SLC2A1	HP:0002186	Apraxia
6513	SLC2A1	HP:0010522	Dyslexia
6513	SLC2A1	HP:0003401	Paresthesia
6513	SLC2A1	HP:0002268	Paroxysmal dystonia
6513	SLC2A1	HP:0003593	Infantile onset
6513	SLC2A1	HP:0003575	Increased intracellular sodium
6513	SLC2A1	HP:0002240	Hepatomegaly
6513	SLC2A1	HP:0003552	Muscle stiffness
6513	SLC2A1	HP:0200134	Epileptic encephalopathy
6513	SLC2A1	HP:0002292	Frontal balding
6513	SLC2A1	HP:0007034	Generalized hyperreflexia
6513	SLC2A1	HP:0007018	Attention deficit hyperactivity disorder
6513	SLC2A1	HP:0011972	Hypoglycorrhachia
6513	SLC2A1	HP:0011973	Paroxysmal lethargy
6513	SLC2A1	HP:0002392	EEG with polyspike wave complexes
6513	SLC2A1	HP:0002360	Sleep disturbance
6513	SLC2A1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6513	SLC2A1	HP:0002353	EEG abnormality
6513	SLC2A1	HP:0002317	Unsteady gait
6513	SLC2A1	HP:0002315	Headache
6513	SLC2A1	HP:0002332	Lack of peer relationships
6513	SLC2A1	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
6513	SLC2A1	HP:0010845	EEG with generalized slow activity
6513	SLC2A1	HP:0100660	Dyskinesia
6513	SLC2A1	HP:0010819	Atonic seizure
6513	SLC2A1	HP:0100678	Premature skin wrinkling
6513	SLC2A1	HP:0007166	Paroxysmal dyskinesia
6513	SLC2A1	HP:0010794	Impaired visuospatial constructive cognition
6513	SLC2A1	HP:0003623	Neonatal onset
6513	SLC2A1	HP:0020181	Reduced haptoglobin level
6513	SLC2A1	HP:0003621	Juvenile onset
6513	SLC2A1	HP:0005525	Spontaneous hemolytic crises
6513	SLC2A1	HP:0006801	Hyperactive deep tendon reflexes
6513	SLC2A1	HP:0000639	Nystagmus
6513	SLC2A1	HP:0000651	Diplopia
6513	SLC2A1	HP:0001923	Reticulocytosis
6513	SLC2A1	HP:0001939	Abnormality of metabolism/homeostasis
6513	SLC2A1	HP:0012695	Decreased thalamic volume
6513	SLC2A1	HP:0001999	Abnormal facial shape
6513	SLC2A1	HP:0004322	Short stature
6513	SLC2A1	HP:0006961	Jerky head movements
6513	SLC2A1	HP:0004305	Involuntary movements
6513	SLC2A1	HP:0000752	Hyperactivity
6513	SLC2A1	HP:0100022	Abnormality of movement
6513	SLC2A1	HP:0100018	Nuclear cataract
6513	SLC2A1	HP:0000737	Irritability
6513	SLC2A1	HP:0000739	Anxiety
6513	SLC2A1	HP:0000735	Impaired social interactions
6513	SLC2A1	HP:0000750	Delayed speech and language development
6513	SLC2A1	HP:0000716	Depression
6513	SLC2A1	HP:0000718	Aggressive behavior
6513	SLC2A1	HP:0000729	Autistic behavior
6513	SLC2A1	HP:0004446	Stomatocytosis
6513	SLC2A1	HP:0045084	Limb myoclonus
6513	SLC2A1	HP:0000980	Pallor
6513	SLC2A1	HP:0010306	Short thorax
6513	SLC2A1	HP:0000952	Jaundice
6513	SLC2A1	HP:0000961	Cyanosis
6513	SLC2A1	HP:0007704	Paroxysmal involuntary eye movements
6513	SLC2A1	HP:0000289	Broad philtrum
6513	SLC2A1	HP:0000256	Macrocephaly
6513	SLC2A1	HP:0007738	Uncontrolled eye movements
6513	SLC2A1	HP:0000253	Progressive microcephaly
6513	SLC2A1	HP:0000252	Microcephaly
6513	SLC2A1	HP:0002883	Hyperventilation
6513	SLC2A1	HP:0032660	Convulsive status epilepticus
6513	SLC2A1	HP:0000219	Thin upper lip vermilion
6513	SLC2A1	HP:0001561	Polyhydramnios
6513	SLC2A1	HP:0002871	Central apnea
6513	SLC2A1	HP:0001510	Growth delay
6513	SLC2A1	HP:0011097	Epileptic spasm
6513	SLC2A1	HP:0002908	Conjugated hyperbilirubinemia
6513	SLC2A1	HP:0000343	Long philtrum
6513	SLC2A1	HP:0031469	Low self esteem
6513	SLC2A1	HP:0011197	EEG with focal spike waves
6513	SLC2A1	HP:0011182	Interictal epileptiform activity
6513	SLC2A1	HP:0011171	Simple febrile seizure
6513	SLC2A1	HP:0011170	Generalized myoclonic-atonic seizure
6513	SLC2A1	HP:0011147	Typical absence seizure
6513	SLC2A1	HP:0011150	Myoclonic absence seizure
6513	SLC2A1	HP:0000400	Macrotia
6513	SLC2A1	HP:0000486	Strabismus
6513	SLC2A1	HP:0030218	Punding
6513	SLC2A1	HP:0000463	Anteverted nares
6513	SLC2A1	HP:0012448	Delayed myelination
6513	SLC2A1	HP:0000475	Broad neck
6513	SLC2A1	HP:0000470	Short neck
6513	SLC2A1	HP:0012433	Abnormal social behavior
6513	SLC2A1	HP:0012430	Cerebral white matter hypoplasia
6513	SLC2A1	HP:0001744	Splenomegaly
6513	SLC2A1	HP:0000431	Wide nasal bridge
6513	SLC2A1	HP:0005484	Secondary microcephaly
6513	SLC2A1	HP:0000518	Cataract
6513	SLC2A1	HP:0011220	Prominent forehead
6513	SLC2A1	HP:0000568	Microphthalmia
6513	SLC2A1	HP:0001878	Hemolytic anemia
6513	SLC2A1	HP:0001877	Abnormal erythrocyte morphology
6514	SLC2A2	HP:0003758	Reduced subcutaneous adipose tissue
6514	SLC2A2	HP:0001263	Global developmental delay
6514	SLC2A2	HP:0001399	Hepatic failure
6514	SLC2A2	HP:0000007	Autosomal recessive inheritance
6514	SLC2A2	HP:0000006	Autosomal dominant inheritance
6514	SLC2A2	HP:0500030	Abnormal hepatic glycogen storage
6514	SLC2A2	HP:0000121	Nephrocalcinosis
6514	SLC2A2	HP:0000124	Renal tubular dysfunction
6514	SLC2A2	HP:0000112	Nephropathy
6514	SLC2A2	HP:0001402	Hepatocellular carcinoma
6514	SLC2A2	HP:0002748	Rickets
6514	SLC2A2	HP:0002749	Osteomalacia
6514	SLC2A2	HP:0002024	Malabsorption
6514	SLC2A2	HP:0005978	Type II diabetes mellitus
6514	SLC2A2	HP:0040270	Impaired glucose tolerance
6514	SLC2A2	HP:0002155	Hypertriglyceridemia
6514	SLC2A2	HP:0002150	Hypercalciuria
6514	SLC2A2	HP:0002148	Hypophosphatemia
6514	SLC2A2	HP:0002240	Hepatomegaly
6514	SLC2A2	HP:0003584	Late onset
6514	SLC2A2	HP:0003537	Hypouricemia
6514	SLC2A2	HP:0011998	Postprandial hyperglycemia
6514	SLC2A2	HP:0020110	Bone fracture
6514	SLC2A2	HP:0004919	Galactose intolerance
6514	SLC2A2	HP:0004915	Impairment of galactose metabolism
6514	SLC2A2	HP:0031819	Increased waist to hip ratio
6514	SLC2A2	HP:0001947	Renal tubular acidosis
6514	SLC2A2	HP:0001942	Metabolic acidosis
6514	SLC2A2	HP:0001941	Acidosis
6514	SLC2A2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
6514	SLC2A2	HP:0031964	Elevated circulating alanine aminotransferase concentration
6514	SLC2A2	HP:0003076	Glycosuria
6514	SLC2A2	HP:0004396	Poor appetite
6514	SLC2A2	HP:0003109	Hyperphosphaturia
6514	SLC2A2	HP:0003155	Elevated circulating alkaline phosphatase concentration
6514	SLC2A2	HP:0003162	Fasting hypoglycemia
6514	SLC2A2	HP:0000855	Insulin resistance
6514	SLC2A2	HP:0000819	Diabetes mellitus
6514	SLC2A2	HP:0003270	Abdominal distention
6514	SLC2A2	HP:0000938	Osteopenia
6514	SLC2A2	HP:0000295	Doll-like facies
6514	SLC2A2	HP:0001508	Failure to thrive
6514	SLC2A2	HP:0001510	Growth delay
6514	SLC2A2	HP:0006568	Increased hepatic glycogen content
6514	SLC2A2	HP:0002909	Generalized aminoaciduria
6514	SLC2A2	HP:0002900	Hypokalemia
6514	SLC2A2	HP:0006487	Bowing of the long bones
6514	SLC2A2	HP:0012468	Chronic acidosis
6515	SLC2A3	HP:0001268	Mental deterioration
6515	SLC2A3	HP:0001288	Gait disturbance
6515	SLC2A3	HP:0001250	Seizure
6515	SLC2A3	HP:0002591	Polyphagia
6515	SLC2A3	HP:0001262	Excessive daytime somnolence
6515	SLC2A3	HP:0002540	Inability to walk
6515	SLC2A3	HP:0002500	Abnormal cerebral white matter morphology
6515	SLC2A3	HP:0001347	Hyperreflexia
6515	SLC2A3	HP:0001332	Dystonia
6515	SLC2A3	HP:0001336	Myoclonus
6515	SLC2A3	HP:0025401	Staring gaze
6515	SLC2A3	HP:0003324	Generalized muscle weakness
6515	SLC2A3	HP:0002067	Bradykinesia
6515	SLC2A3	HP:0002063	Rigidity
6515	SLC2A3	HP:0002072	Chorea
6515	SLC2A3	HP:0030955	Alcoholism
6515	SLC2A3	HP:0002059	Cerebral atrophy
6515	SLC2A3	HP:0002141	Gait imbalance
6515	SLC2A3	HP:0003487	Babinski sign
6515	SLC2A3	HP:0002169	Clonus
6515	SLC2A3	HP:0100785	Insomnia
6515	SLC2A3	HP:0200136	Oral-pharyngeal dysphagia
6515	SLC2A3	HP:0007010	Poor fine motor coordination
6515	SLC2A3	HP:0002375	Hypokinesia
6515	SLC2A3	HP:0002340	Caudate atrophy
6515	SLC2A3	HP:0002355	Difficulty walking
6515	SLC2A3	HP:0002354	Memory impairment
6515	SLC2A3	HP:0010794	Impaired visuospatial constructive cognition
6515	SLC2A3	HP:0002300	Mutism
6515	SLC2A3	HP:0002312	Clumsiness
6515	SLC2A3	HP:0031845	Abnormal libido
6515	SLC2A3	HP:0031843	Bradyphrenia
6515	SLC2A3	HP:0009088	Speech articulation difficulties
6515	SLC2A3	HP:0004305	Involuntary movements
6515	SLC2A3	HP:0000738	Hallucinations
6515	SLC2A3	HP:0000737	Irritability
6515	SLC2A3	HP:0000739	Anxiety
6515	SLC2A3	HP:0000734	Disinhibition
6515	SLC2A3	HP:0000746	Delusions
6515	SLC2A3	HP:0000741	Apathy
6515	SLC2A3	HP:0000716	Depression
6515	SLC2A3	HP:0000718	Aggressive behavior
6515	SLC2A3	HP:0000713	Agitation
6515	SLC2A3	HP:0000722	Compulsive behaviors
6515	SLC2A3	HP:0003107	Abnormal circulating cholesterol concentration
6515	SLC2A3	HP:0004408	Abnormality of the sense of smell
6515	SLC2A3	HP:0045082	Decreased body mass index
6515	SLC2A3	HP:0030842	Choking episodes
6515	SLC2A3	HP:0040140	Degeneration of the striatum
6515	SLC2A3	HP:0031473	Hostility
6515	SLC2A3	HP:0000496	Abnormality of eye movement
6515	SLC2A3	HP:0031589	Suicidal ideation
6515	SLC2A3	HP:0001824	Weight loss
6519	SLC3A1	HP:0001250	Seizure
6519	SLC3A1	HP:0001252	Hypotonia
6519	SLC3A1	HP:0002591	Polyphagia
6519	SLC3A1	HP:0001263	Global developmental delay
6519	SLC3A1	HP:0000083	Renal insufficiency
6519	SLC3A1	HP:0000010	Recurrent urinary tract infections
6519	SLC3A1	HP:0000007	Autosomal recessive inheritance
6519	SLC3A1	HP:0000006	Autosomal dominant inheritance
6519	SLC3A1	HP:0000135	Hypogonadism
6519	SLC3A1	HP:0002007	Frontal bossing
6519	SLC3A1	HP:0003532	Ornithinuria
6519	SLC3A1	HP:0200125	Mitochondrial respiratory chain defects
6519	SLC3A1	HP:0002342	Intellectual disability, moderate
6519	SLC3A1	HP:0001943	Hypoglycemia
6519	SLC3A1	HP:0000787	Nephrolithiasis
6519	SLC3A1	HP:0003131	Cystinuria
6519	SLC3A1	HP:0003128	Lactic acidosis
6519	SLC3A1	HP:0003297	Hyperlysinuria
6519	SLC3A1	HP:0003268	Argininuria
6519	SLC3A1	HP:0000286	Epicanthus
6519	SLC3A1	HP:0000278	Retrognathia
6519	SLC3A1	HP:0000268	Dolichocephaly
6519	SLC3A1	HP:0001558	Decreased fetal movement
6519	SLC3A1	HP:0001508	Failure to thrive
6519	SLC3A1	HP:0001510	Growth delay
6519	SLC3A1	HP:0012378	Fatigue
6519	SLC3A1	HP:0001611	Hypernasal speech
6519	SLC3A1	HP:0002901	Hypocalcemia
6519	SLC3A1	HP:0000368	Low-set, posteriorly rotated ears
6519	SLC3A1	HP:0005280	Depressed nasal bridge
6519	SLC3A1	HP:0000527	Long eyelashes
6519	SLC3A1	HP:0000508	Ptosis
6521	SLC4A1	HP:0025143	Chills
6521	SLC4A1	HP:0001254	Lethargy
6521	SLC4A1	HP:0001251	Ataxia
6521	SLC4A1	HP:0031033	Impaired urinary acidification
6521	SLC4A1	HP:0010972	Anemia of inadequate production
6521	SLC4A1	HP:0001324	Muscle weakness
6521	SLC4A1	HP:0000007	Autosomal recessive inheritance
6521	SLC4A1	HP:0000006	Autosomal dominant inheritance
6521	SLC4A1	HP:0025435	Increased circulating lactate dehydrogenase concentration
6521	SLC4A1	HP:0000121	Nephrocalcinosis
6521	SLC4A1	HP:0002756	Pathologic fracture
6521	SLC4A1	HP:0001433	Hepatosplenomegaly
6521	SLC4A1	HP:0002748	Rickets
6521	SLC4A1	HP:0002749	Osteomalacia
6521	SLC4A1	HP:0002027	Abdominal pain
6521	SLC4A1	HP:0003326	Myalgia
6521	SLC4A1	HP:0030950	Pulmonary venous hypertension
6521	SLC4A1	HP:0002039	Anorexia
6521	SLC4A1	HP:0011900	Hypofibrinogenemia
6521	SLC4A1	HP:0003573	Increased total bilirubin
6521	SLC4A1	HP:0002240	Hepatomegaly
6521	SLC4A1	HP:0100724	Hypercoagulability
6521	SLC4A1	HP:0008341	Distal renal tubular acidosis
6521	SLC4A1	HP:0020063	Increased hemoglobin concentration
6521	SLC4A1	HP:0004804	Congenital hemolytic anemia
6521	SLC4A1	HP:0001046	Intermittent jaundice
6521	SLC4A1	HP:0025066	Decreased mean corpuscular volume
6521	SLC4A1	HP:0200042	Skin ulcer
6521	SLC4A1	HP:0001081	Cholelithiasis
6521	SLC4A1	HP:0003621	Juvenile onset
6521	SLC4A1	HP:0004918	Hyperchloremic metabolic acidosis
6521	SLC4A1	HP:0005525	Spontaneous hemolytic crises
6521	SLC4A1	HP:0005518	Increased mean corpuscular volume
6521	SLC4A1	HP:0005502	Increased red cell osmotic fragility
6521	SLC4A1	HP:0001981	Schistocytosis
6521	SLC4A1	HP:0001978	Extramedullary hematopoiesis
6521	SLC4A1	HP:0001972	Macrocytic anemia
6521	SLC4A1	HP:0001945	Fever
6521	SLC4A1	HP:0001942	Metabolic acidosis
6521	SLC4A1	HP:0001923	Reticulocytosis
6521	SLC4A1	HP:0001930	Nonspherocytic hemolytic anemia
6521	SLC4A1	HP:0001907	Thromboembolism
6521	SLC4A1	HP:0001903	Anemia
6521	SLC4A1	HP:0001901	Polycythemia
6521	SLC4A1	HP:0001997	Gout
6521	SLC4A1	HP:0004322	Short stature
6521	SLC4A1	HP:0011462	Young adult onset
6521	SLC4A1	HP:0000787	Nephrolithiasis
6521	SLC4A1	HP:0004446	Stomatocytosis
6521	SLC4A1	HP:0004445	Elliptocytosis
6521	SLC4A1	HP:0004444	Spherocytosis
6521	SLC4A1	HP:0003270	Abdominal distention
6521	SLC4A1	HP:0003281	Increased circulating ferritin concentration
6521	SLC4A1	HP:0003265	Neonatal hyperbilirubinemia
6521	SLC4A1	HP:0003259	Elevated circulating creatinine concentration
6521	SLC4A1	HP:0000980	Pallor
6521	SLC4A1	HP:0000952	Jaundice
6521	SLC4A1	HP:0000969	Edema
6521	SLC4A1	HP:0040186	Maculopapular exanthema
6521	SLC4A1	HP:0025548	Increased mean corpuscular hemoglobin concentration
6521	SLC4A1	HP:0030036	Isothenuria
6521	SLC4A1	HP:0001508	Failure to thrive
6521	SLC4A1	HP:0001510	Growth delay
6521	SLC4A1	HP:0011042	Abnormal blood potassium concentration
6521	SLC4A1	HP:0002904	Hyperbilirubinemia
6521	SLC4A1	HP:0002900	Hypokalemia
6521	SLC4A1	HP:0002901	Hypocalcemia
6521	SLC4A1	HP:0001723	Restrictive cardiomyopathy
6521	SLC4A1	HP:0030242	Portal vein thrombosis
6521	SLC4A1	HP:0012431	Episodic fatigue
6521	SLC4A1	HP:0001744	Splenomegaly
6521	SLC4A1	HP:0001878	Hemolytic anemia
6523	SLC5A1	HP:0000083	Renal insufficiency
6523	SLC5A1	HP:0000007	Autosomal recessive inheritance
6523	SLC5A1	HP:0002024	Malabsorption
6523	SLC5A1	HP:0002028	Chronic diarrhea
6523	SLC5A1	HP:0002014	Diarrhea
6523	SLC5A1	HP:0002013	Vomiting
6523	SLC5A1	HP:0003623	Neonatal onset
6523	SLC5A1	HP:0004924	Abnormal oral glucose tolerance
6523	SLC5A1	HP:0001944	Dehydration
6523	SLC5A1	HP:0001945	Fever
6523	SLC5A1	HP:0001942	Metabolic acidosis
6523	SLC5A1	HP:0001986	Hypertonic dehydration
6523	SLC5A1	HP:0003076	Glycosuria
6523	SLC5A1	HP:0003072	Hypercalcemia
6523	SLC5A1	HP:0004395	Malnutrition
6523	SLC5A1	HP:0000790	Hematuria
6523	SLC5A1	HP:0000787	Nephrolithiasis
6523	SLC5A1	HP:0003228	Hypernatremia
6523	SLC5A1	HP:0003270	Abdominal distention
6523	SLC5A1	HP:0001508	Failure to thrive
6523	SLC5A1	HP:0030143	Hyperactive bowel sounds
6523	SLC5A1	HP:0001824	Weight loss
6524	SLC5A2	HP:0002591	Polyphagia
6524	SLC5A2	HP:0003828	Variable expressivity
6524	SLC5A2	HP:0008855	Moderate postnatal growth retardation
6524	SLC5A2	HP:0000010	Recurrent urinary tract infections
6524	SLC5A2	HP:0000007	Autosomal recessive inheritance
6524	SLC5A2	HP:0000006	Autosomal dominant inheritance
6524	SLC5A2	HP:0000124	Renal tubular dysfunction
6524	SLC5A2	HP:0000112	Nephropathy
6524	SLC5A2	HP:0000103	Polyuria
6524	SLC5A2	HP:0010677	Enuresis nocturna
6524	SLC5A2	HP:0004924	Abnormal oral glucose tolerance
6524	SLC5A2	HP:0001944	Dehydration
6524	SLC5A2	HP:0001946	Ketosis
6524	SLC5A2	HP:0001959	Polydipsia
6524	SLC5A2	HP:0003076	Glycosuria
6524	SLC5A2	HP:0003074	Hyperglycemia
6524	SLC5A2	HP:0000805	Enuresis
6524	SLC5A2	HP:0000855	Insulin resistance
6524	SLC5A2	HP:0040214	Abnormal circulating insulin concentration
6524	SLC5A2	HP:0040217	Elevated hemoglobin A1c
6528	SLC5A5	HP:0001254	Lethargy
6528	SLC5A5	HP:0001252	Hypotonia
6528	SLC5A5	HP:0001249	Intellectual disability
6528	SLC5A5	HP:0001265	Hyporeflexia
6528	SLC5A5	HP:0008872	Feeding difficulties in infancy
6528	SLC5A5	HP:0008828	Delayed proximal femoral epiphyseal ossification
6528	SLC5A5	HP:0000007	Autosomal recessive inheritance
6528	SLC5A5	HP:0025483	Abnormal circulating thyroglobulin level
6528	SLC5A5	HP:0025482	Positive perchlorate discharge test
6528	SLC5A5	HP:0000158	Macroglossia
6528	SLC5A5	HP:0031219	Reduced radioactive iodine uptake
6528	SLC5A5	HP:0031220	Increased radioactive iodine uptake
6528	SLC5A5	HP:0002019	Constipation
6528	SLC5A5	HP:0002045	Hypothermia
6528	SLC5A5	HP:0005930	Abnormal epiphysis morphology
6528	SLC5A5	HP:0008263	Thyroid defect in oxidation and organification of iodide
6528	SLC5A5	HP:0011437	Maternal autoimmune disease
6528	SLC5A5	HP:0012758	Neurodevelopmental delay
6528	SLC5A5	HP:0004491	Large posterior fontanelle
6528	SLC5A5	HP:0000851	Congenital hypothyroidism
6528	SLC5A5	HP:0000853	Goiter
6528	SLC5A5	HP:0000821	Hypothyroidism
6528	SLC5A5	HP:0003265	Neonatal hyperbilirubinemia
6528	SLC5A5	HP:0000958	Dry skin
6528	SLC5A5	HP:0000282	Facial edema
6528	SLC5A5	HP:0000270	Delayed cranial suture closure
6528	SLC5A5	HP:0001537	Umbilical hernia
6528	SLC5A5	HP:0001510	Growth delay
6528	SLC5A5	HP:0031507	Decreased circulating T4 concentration
6528	SLC5A5	HP:0006579	Prolonged neonatal jaundice
6528	SLC5A5	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
6528	SLC5A5	HP:0001662	Bradycardia
6528	SLC5A5	HP:0000407	Sensorineural hearing impairment
6528	SLC5A5	HP:0005280	Depressed nasal bridge
6529	SLC6A1	HP:0001159	Syndactyly
6529	SLC6A1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
6529	SLC6A1	HP:0009928	Thick nasal alae
6529	SLC6A1	HP:0007256	Abnormal pyramidal sign
6529	SLC6A1	HP:0001252	Hypotonia
6529	SLC6A1	HP:0001251	Ataxia
6529	SLC6A1	HP:0001249	Intellectual disability
6529	SLC6A1	HP:0001263	Global developmental delay
6529	SLC6A1	HP:0410263	Brain imaging abnormality
6529	SLC6A1	HP:0100851	Abnormal emotion/affect behavior
6529	SLC6A1	HP:0007359	Focal-onset seizure
6529	SLC6A1	HP:0001326	EEG with irregular generalized spike and wave complexes
6529	SLC6A1	HP:0001337	Tremor
6529	SLC6A1	HP:0000006	Autosomal dominant inheritance
6529	SLC6A1	HP:0002650	Scoliosis
6529	SLC6A1	HP:0000179	Thick lower lip vermilion
6529	SLC6A1	HP:0000154	Wide mouth
6529	SLC6A1	HP:0002123	Generalized myoclonic seizure
6529	SLC6A1	HP:0002121	Generalized non-motor (absence) seizure
6529	SLC6A1	HP:0002188	Delayed CNS myelination
6529	SLC6A1	HP:0200134	Epileptic encephalopathy
6529	SLC6A1	HP:0002292	Frontal balding
6529	SLC6A1	HP:0007018	Attention deficit hyperactivity disorder
6529	SLC6A1	HP:0002392	EEG with polyspike wave complexes
6529	SLC6A1	HP:0002317	Unsteady gait
6529	SLC6A1	HP:0002332	Lack of peer relationships
6529	SLC6A1	HP:0010845	EEG with generalized slow activity
6529	SLC6A1	HP:0025097	Eyelid myoclonus
6529	SLC6A1	HP:0010819	Atonic seizure
6529	SLC6A1	HP:0100678	Premature skin wrinkling
6529	SLC6A1	HP:0003621	Juvenile onset
6529	SLC6A1	HP:0001999	Abnormal facial shape
6529	SLC6A1	HP:0000752	Hyperactivity
6529	SLC6A1	HP:0000735	Impaired social interactions
6529	SLC6A1	HP:0000750	Delayed speech and language development
6529	SLC6A1	HP:0000729	Autistic behavior
6529	SLC6A1	HP:0011463	Childhood onset
6529	SLC6A1	HP:0000289	Broad philtrum
6529	SLC6A1	HP:0000252	Microcephaly
6529	SLC6A1	HP:0000219	Thin upper lip vermilion
6529	SLC6A1	HP:0011097	Epileptic spasm
6529	SLC6A1	HP:0000343	Long philtrum
6529	SLC6A1	HP:0032794	Myoclonic seizure
6529	SLC6A1	HP:0011197	EEG with focal spike waves
6529	SLC6A1	HP:0011182	Interictal epileptiform activity
6529	SLC6A1	HP:0011171	Simple febrile seizure
6529	SLC6A1	HP:0011170	Generalized myoclonic-atonic seizure
6529	SLC6A1	HP:0000463	Anteverted nares
6529	SLC6A1	HP:0000431	Wide nasal bridge
6529	SLC6A1	HP:0011220	Prominent forehead
6529	SLC6A1	HP:0000568	Microphthalmia
6530	SLC6A2	HP:0000006	Autosomal dominant inheritance
6530	SLC6A2	HP:0012173	Orthostatic tachycardia
6530	SLC6A2	HP:0003345	Elevated urinary norepinephrine
6530	SLC6A2	HP:0003621	Juvenile onset
6531	SLC6A3	HP:0002487	Hyperkinetic movements
6531	SLC6A3	HP:0002451	Limb dystonia
6531	SLC6A3	HP:0007256	Abnormal pyramidal sign
6531	SLC6A3	HP:0001276	Hypertonia
6531	SLC6A3	HP:0001263	Global developmental delay
6531	SLC6A3	HP:0002509	Limb hypertonia
6531	SLC6A3	HP:0012048	Oromandibular dystonia
6531	SLC6A3	HP:0001332	Dystonia
6531	SLC6A3	HP:0001344	Absent speech
6531	SLC6A3	HP:0000007	Autosomal recessive inheritance
6531	SLC6A3	HP:0001337	Tremor
6531	SLC6A3	HP:0001300	Parkinsonism
6531	SLC6A3	HP:0008936	Axial hypotonia
6531	SLC6A3	HP:0002020	Gastroesophageal reflux
6531	SLC6A3	HP:0002019	Constipation
6531	SLC6A3	HP:0002067	Bradykinesia
6531	SLC6A3	HP:0002063	Rigidity
6531	SLC6A3	HP:0002062	Morphological abnormality of the pyramidal tract
6531	SLC6A3	HP:0002072	Chorea
6531	SLC6A3	HP:0002194	Delayed gross motor development
6531	SLC6A3	HP:0010553	Oculogyric crisis
6531	SLC6A3	HP:0003593	Infantile onset
6531	SLC6A3	HP:0011968	Feeding difficulties
6531	SLC6A3	HP:0002396	Cogwheel rigidity
6531	SLC6A3	HP:0002375	Hypokinesia
6531	SLC6A3	HP:0003676	Progressive
6531	SLC6A3	HP:0100660	Dyskinesia
6531	SLC6A3	HP:0003623	Neonatal onset
6531	SLC6A3	HP:0002310	Orofacial dyskinesia
6531	SLC6A3	HP:0004354	Abnormal circulating carboxylic acid concentration
6531	SLC6A3	HP:0031931	Ocular flutter
6531	SLC6A3	HP:0100021	Cerebral palsy
6531	SLC6A3	HP:0000737	Irritability
6531	SLC6A3	HP:0034201	Increased CSF homovanillic acid concentration
6531	SLC6A3	HP:0000338	Hypomimic face
6532	SLC6A4	HP:0000006	Autosomal dominant inheritance
6532	SLC6A4	HP:0012166	Skin-picking
6532	SLC6A4	HP:0000739	Anxiety
6532	SLC6A4	HP:0000716	Depression
6532	SLC6A4	HP:0030212	Collectionism
6533	SLC6A6	HP:0025169	Left ventricular systolic dysfunction
6533	SLC6A6	HP:0500182	Hypotaurinemia
6533	SLC6A6	HP:0007401	Macular atrophy
6533	SLC6A6	HP:0000006	Autosomal dominant inheritance
6533	SLC6A6	HP:0003593	Infantile onset
6533	SLC6A6	HP:0003577	Congenital onset
6533	SLC6A6	HP:0200070	Peripheral retinal atrophy
6533	SLC6A6	HP:0008499	High hypermetropia
6533	SLC6A6	HP:0000639	Nystagmus
6533	SLC6A6	HP:0030609	Photoreceptor layer loss on macular OCT
6533	SLC6A6	HP:0007843	Attenuation of retinal blood vessels
6533	SLC6A6	HP:0007814	Retinal pigment epithelial mottling
6533	SLC6A6	HP:0001644	Dilated cardiomyopathy
6533	SLC6A6	HP:0001634	Mitral valve prolapse
6533	SLC6A6	HP:0030329	Retinal thinning
6533	SLC6A6	HP:0007994	Peripheral visual field loss
6535	SLC6A8	HP:0008583	Underfolded superior helices
6535	SLC6A8	HP:0001276	Hypertonia
6535	SLC6A8	HP:0001270	Motor delay
6535	SLC6A8	HP:0001288	Gait disturbance
6535	SLC6A8	HP:0001250	Seizure
6535	SLC6A8	HP:0001252	Hypotonia
6535	SLC6A8	HP:0001251	Ataxia
6535	SLC6A8	HP:0001249	Intellectual disability
6535	SLC6A8	HP:0002595	Ileus
6535	SLC6A8	HP:0001263	Global developmental delay
6535	SLC6A8	HP:0001257	Spasticity
6535	SLC6A8	HP:0000098	Tall stature
6535	SLC6A8	HP:0001382	Joint hypermobility
6535	SLC6A8	HP:0008872	Feeding difficulties in infancy
6535	SLC6A8	HP:0001332	Dystonia
6535	SLC6A8	HP:0001319	Neonatal hypotonia
6535	SLC6A8	HP:0000194	Open mouth
6535	SLC6A8	HP:0008936	Axial hypotonia
6535	SLC6A8	HP:0012113	Abnormal circulating creatine concentration
6535	SLC6A8	HP:0001419	X-linked recessive inheritance
6535	SLC6A8	HP:0002019	Constipation
6535	SLC6A8	HP:0002013	Vomiting
6535	SLC6A8	HP:0011800	Midface retrusion
6535	SLC6A8	HP:0002079	Hypoplasia of the corpus callosum
6535	SLC6A8	HP:0002072	Chorea
6535	SLC6A8	HP:0002058	Myopathic facies
6535	SLC6A8	HP:0002136	Broad-based gait
6535	SLC6A8	HP:0003593	Infantile onset
6535	SLC6A8	HP:0002251	Aganglionic megacolon
6535	SLC6A8	HP:0007018	Attention deficit hyperactivity disorder
6535	SLC6A8	HP:0007057	Poor hand-eye coordination
6535	SLC6A8	HP:0025051	Reduced brain creatine level by MRS
6535	SLC6A8	HP:0002305	Athetosis
6535	SLC6A8	HP:0004322	Short stature
6535	SLC6A8	HP:0004326	Cachexia
6535	SLC6A8	HP:0005692	Joint hyperflexibility
6535	SLC6A8	HP:0000752	Hyperactivity
6535	SLC6A8	HP:0000735	Impaired social interactions
6535	SLC6A8	HP:0000750	Delayed speech and language development
6535	SLC6A8	HP:0000742	Self-mutilation
6535	SLC6A8	HP:0000718	Aggressive behavior
6535	SLC6A8	HP:0000729	Autistic behavior
6535	SLC6A8	HP:0034291	Elevated circulating creatine concentration
6535	SLC6A8	HP:0000298	Mask-like facies
6535	SLC6A8	HP:0000275	Narrow face
6535	SLC6A8	HP:0000276	Long face
6535	SLC6A8	HP:0000272	Malar flattening
6535	SLC6A8	HP:0000252	Microcephaly
6535	SLC6A8	HP:0001582	Redundant skin
6535	SLC6A8	HP:0001508	Failure to thrive
6535	SLC6A8	HP:0011098	Speech apraxia
6535	SLC6A8	HP:0000337	Broad forehead
6535	SLC6A8	HP:0001657	Prolonged QT interval
6535	SLC6A8	HP:0000303	Mandibular prognathia
6535	SLC6A8	HP:0012448	Delayed myelination
6535	SLC6A8	HP:0001761	Pes cavus
6535	SLC6A8	HP:0000508	Ptosis
6535	SLC6A8	HP:0000577	Exotropia
6535	SLC6A8	HP:0000540	Hypermetropia
6536	SLC6A9	HP:0001188	Hand clenching
6536	SLC6A9	HP:0025116	Fetal distress
6536	SLC6A9	HP:0001298	Encephalopathy
6536	SLC6A9	HP:0001276	Hypertonia
6536	SLC6A9	HP:0001263	Global developmental delay
6536	SLC6A9	HP:0001371	Flexion contracture
6536	SLC6A9	HP:0001388	Joint laxity
6536	SLC6A9	HP:0000007	Autosomal recessive inheritance
6536	SLC6A9	HP:0008936	Axial hypotonia
6536	SLC6A9	HP:0002015	Dysphagia
6536	SLC6A9	HP:0002079	Hypoplasia of the corpus callosum
6536	SLC6A9	HP:0002058	Myopathic facies
6536	SLC6A9	HP:0002119	Ventriculomegaly
6536	SLC6A9	HP:0002104	Apnea
6536	SLC6A9	HP:0002169	Clonus
6536	SLC6A9	HP:0002267	Exaggerated startle response
6536	SLC6A9	HP:0003577	Congenital onset
6536	SLC6A9	HP:0000648	Optic atrophy
6536	SLC6A9	HP:0003273	Hip contracture
6536	SLC6A9	HP:0000278	Retrognathia
6536	SLC6A9	HP:0000268	Dolichocephaly
6536	SLC6A9	HP:0002816	Genu recurvatum
6536	SLC6A9	HP:0002827	Hip dislocation
6536	SLC6A9	HP:0002804	Arthrogryposis multiplex congenita
6536	SLC6A9	HP:0000243	Trigonocephaly
6536	SLC6A9	HP:0000252	Microcephaly
6536	SLC6A9	HP:0002878	Respiratory failure
6536	SLC6A9	HP:0000369	Low-set ears
6536	SLC6A9	HP:0002987	Elbow flexion contracture
6536	SLC6A9	HP:0005280	Depressed nasal bridge
6536	SLC6A9	HP:0000463	Anteverted nares
6536	SLC6A9	HP:0001762	Talipes equinovarus
6536	SLC6A9	HP:0001845	Overlapping toe
6536	SLC6A9	HP:0000527	Long eyelashes
6536	SLC6A9	HP:0000508	Ptosis
6548	SLC9A1	HP:0001272	Cerebellar atrophy
6548	SLC9A1	HP:0001270	Motor delay
6548	SLC9A1	HP:0001251	Ataxia
6548	SLC9A1	HP:0001260	Dysarthria
6548	SLC9A1	HP:0000007	Autosomal recessive inheritance
6548	SLC9A1	HP:0001310	Dysmetria
6548	SLC9A1	HP:0002066	Gait ataxia
6548	SLC9A1	HP:0002075	Dysdiadochokinesis
6548	SLC9A1	HP:0002070	Limb ataxia
6548	SLC9A1	HP:0002345	Action tremor
6548	SLC9A1	HP:0003676	Progressive
6548	SLC9A1	HP:0000639	Nystagmus
6548	SLC9A1	HP:0004322	Short stature
6550	SLC9A3	HP:0032261	Nontuberculous mycobacterial pulmonary infection
6550	SLC9A3	HP:0002570	Steatorrhea
6550	SLC9A3	HP:0032342	Reduced forced expiratory volume in one second
6550	SLC9A3	HP:0001392	Abnormality of the liver
6550	SLC9A3	HP:0001394	Cirrhosis
6550	SLC9A3	HP:0032484	Elevated fecal sodium
6550	SLC9A3	HP:0000007	Autosomal recessive inheritance
6550	SLC9A3	HP:0002726	Recurrent Staphylococcus aureus infections
6550	SLC9A3	HP:0002724	Recurrent Aspergillus infections
6550	SLC9A3	HP:0002024	Malabsorption
6550	SLC9A3	HP:0002020	Gastroesophageal reflux
6550	SLC9A3	HP:0002037	Inflammation of the large intestine
6550	SLC9A3	HP:0002035	Rectal prolapse
6550	SLC9A3	HP:0002099	Asthma
6550	SLC9A3	HP:0100582	Nasal polyposis
6550	SLC9A3	HP:0002110	Bronchiectasis
6550	SLC9A3	HP:0002107	Pneumothorax
6550	SLC9A3	HP:0002105	Hemoptysis
6550	SLC9A3	HP:0002205	Recurrent respiratory infections
6550	SLC9A3	HP:0000739	Anxiety
6550	SLC9A3	HP:0000716	Depression
6550	SLC9A3	HP:0000787	Nephrolithiasis
6550	SLC9A3	HP:0004401	Meconium ileus
6550	SLC9A3	HP:0012873	Absent vas deferens
6550	SLC9A3	HP:0003270	Abdominal distention
6550	SLC9A3	HP:0045082	Decreased body mass index
6550	SLC9A3	HP:0000939	Osteoporosis
6550	SLC9A3	HP:0000938	Osteopenia
6550	SLC9A3	HP:0012236	Elevated sweat chloride
6550	SLC9A3	HP:0000246	Sinusitis
6550	SLC9A3	HP:0001561	Polyhydramnios
6550	SLC9A3	HP:0001508	Failure to thrive
6550	SLC9A3	HP:0002842	Recurrent Burkholderia cepacia infections
6550	SLC9A3	HP:0005208	Secretory diarrhea
6550	SLC9A3	HP:0006536	Airway obstruction
6550	SLC9A3	HP:0002910	Elevated hepatic transaminase
6550	SLC9A3	HP:0000365	Hearing impairment
6550	SLC9A3	HP:0005376	Recurrent Haemophilus influenzae infections
6550	SLC9A3	HP:0001738	Exocrine pancreatic insufficiency
6554	SLC10A1	HP:0000007	Autosomal recessive inheritance
6554	SLC10A1	HP:0100512	Low levels of vitamin D
6554	SLC10A1	HP:0008282	Unconjugated hyperbilirubinemia
6554	SLC10A1	HP:0003623	Neonatal onset
6554	SLC10A1	HP:0000938	Osteopenia
6554	SLC10A1	HP:0012202	Increased serum bile acid concentration
6554	SLC10A1	HP:0006579	Prolonged neonatal jaundice
6555	SLC10A2	HP:0002570	Steatorrhea
6555	SLC10A2	HP:0000007	Autosomal recessive inheritance
6555	SLC10A2	HP:0002630	Fat malabsorption
6555	SLC10A2	HP:0002028	Chronic diarrhea
6555	SLC10A2	HP:0003623	Neonatal onset
6555	SLC10A2	HP:0034043	Increased fecal bile acid
6555	SLC10A2	HP:0001508	Failure to thrive
6555	SLC10A2	HP:0001510	Growth delay
6556	SLC11A1	HP:0032261	Nontuberculous mycobacterial pulmonary infection
6556	SLC11A1	HP:0002570	Steatorrhea
6556	SLC11A1	HP:0032342	Reduced forced expiratory volume in one second
6556	SLC11A1	HP:0001392	Abnormality of the liver
6556	SLC11A1	HP:0001394	Cirrhosis
6556	SLC11A1	HP:0002726	Recurrent Staphylococcus aureus infections
6556	SLC11A1	HP:0002724	Recurrent Aspergillus infections
6556	SLC11A1	HP:0002024	Malabsorption
6556	SLC11A1	HP:0002020	Gastroesophageal reflux
6556	SLC11A1	HP:0002035	Rectal prolapse
6556	SLC11A1	HP:0002088	Abnormal lung morphology
6556	SLC11A1	HP:0002099	Asthma
6556	SLC11A1	HP:0100582	Nasal polyposis
6556	SLC11A1	HP:0002110	Bronchiectasis
6556	SLC11A1	HP:0002107	Pneumothorax
6556	SLC11A1	HP:0002105	Hemoptysis
6556	SLC11A1	HP:0002205	Recurrent respiratory infections
6556	SLC11A1	HP:0001945	Fever
6556	SLC11A1	HP:0012735	Cough
6556	SLC11A1	HP:0000739	Anxiety
6556	SLC11A1	HP:0000716	Depression
6556	SLC11A1	HP:0000787	Nephrolithiasis
6556	SLC11A1	HP:0004401	Meconium ileus
6556	SLC11A1	HP:0012873	Absent vas deferens
6556	SLC11A1	HP:0045082	Decreased body mass index
6556	SLC11A1	HP:0000939	Osteoporosis
6556	SLC11A1	HP:0000938	Osteopenia
6556	SLC11A1	HP:0012236	Elevated sweat chloride
6556	SLC11A1	HP:0000246	Sinusitis
6556	SLC11A1	HP:0001508	Failure to thrive
6556	SLC11A1	HP:0002842	Recurrent Burkholderia cepacia infections
6556	SLC11A1	HP:0012378	Fatigue
6556	SLC11A1	HP:0006536	Airway obstruction
6556	SLC11A1	HP:0002910	Elevated hepatic transaminase
6556	SLC11A1	HP:0000365	Hearing impairment
6556	SLC11A1	HP:0005376	Recurrent Haemophilus influenzae infections
6556	SLC11A1	HP:0001738	Exocrine pancreatic insufficiency
6556	SLC11A1	HP:0001824	Weight loss
6557	SLC12A1	HP:0001281	Tetany
6557	SLC12A1	HP:0001250	Seizure
6557	SLC12A1	HP:0001249	Intellectual disability
6557	SLC12A1	HP:0001263	Global developmental delay
6557	SLC12A1	HP:0000007	Autosomal recessive inheritance
6557	SLC12A1	HP:0002632	Low-to-normal blood pressure
6557	SLC12A1	HP:0000121	Nephrocalcinosis
6557	SLC12A1	HP:0000128	Renal potassium wasting
6557	SLC12A1	HP:0000127	Renal salt wasting
6557	SLC12A1	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia
6557	SLC12A1	HP:0000103	Polyuria
6557	SLC12A1	HP:0002019	Constipation
6557	SLC12A1	HP:0002014	Diarrhea
6557	SLC12A1	HP:0002013	Vomiting
6557	SLC12A1	HP:0003324	Generalized muscle weakness
6557	SLC12A1	HP:0003394	Muscle spasm
6557	SLC12A1	HP:0002150	Hypercalciuria
6557	SLC12A1	HP:0003401	Paresthesia
6557	SLC12A1	HP:0003566	Increased serum prostaglandin E2
6557	SLC12A1	HP:0003527	Hyperprostaglandinuria
6557	SLC12A1	HP:0001944	Dehydration
6557	SLC12A1	HP:0001945	Fever
6557	SLC12A1	HP:0001960	Hypokalemic metabolic alkalosis
6557	SLC12A1	HP:0004322	Short stature
6557	SLC12A1	HP:0003072	Hypercalcemia
6557	SLC12A1	HP:0003081	Increased urinary potassium
6557	SLC12A1	HP:0011461	Fetal onset
6557	SLC12A1	HP:0003113	Hypochloremia
6557	SLC12A1	HP:0003158	Hyposthenuria
6557	SLC12A1	HP:0000859	Hyperaldosteronism
6557	SLC12A1	HP:0000848	Increased circulating renin level
6557	SLC12A1	HP:0000843	Hyperparathyroidism
6557	SLC12A1	HP:0000841	Hyperactive renin-angiotensin system
6557	SLC12A1	HP:0000938	Osteopenia
6557	SLC12A1	HP:0000934	Chondrocalcinosis
6557	SLC12A1	HP:0001561	Polyhydramnios
6557	SLC12A1	HP:0001563	Fetal polyuria
6557	SLC12A1	HP:0001508	Failure to thrive
6557	SLC12A1	HP:0001518	Small for gestational age
6557	SLC12A1	HP:0002917	Hypomagnesemia
6557	SLC12A1	HP:0002914	Hyperchloriduria
6557	SLC12A1	HP:0002900	Hypokalemia
6557	SLC12A1	HP:0001622	Premature birth
6558	SLC12A2	HP:0008619	Bilateral sensorineural hearing impairment
6558	SLC12A2	HP:0010864	Intellectual disability, severe
6558	SLC12A2	HP:0001290	Generalized hypotonia
6558	SLC12A2	HP:0001276	Hypertonia
6558	SLC12A2	HP:0001274	Agenesis of corpus callosum
6558	SLC12A2	HP:0001270	Motor delay
6558	SLC12A2	HP:0001263	Global developmental delay
6558	SLC12A2	HP:0001257	Spasticity
6558	SLC12A2	HP:0002575	Tracheoesophageal fistula
6558	SLC12A2	HP:0002566	Intestinal malrotation
6558	SLC12A2	HP:0002539	Cortical dysplasia
6558	SLC12A2	HP:0500239	Increased CSF albumin concentration
6558	SLC12A2	HP:0001347	Hyperreflexia
6558	SLC12A2	HP:0001344	Absent speech
6558	SLC12A2	HP:0002673	Coxa valga
6558	SLC12A2	HP:0000007	Autosomal recessive inheritance
6558	SLC12A2	HP:0000006	Autosomal dominant inheritance
6558	SLC12A2	HP:0000154	Wide mouth
6558	SLC12A2	HP:0002020	Gastroesophageal reflux
6558	SLC12A2	HP:0004691	2-3 toe syndactyly
6558	SLC12A2	HP:0002015	Dysphagia
6558	SLC12A2	HP:0011822	Broad chin
6558	SLC12A2	HP:0003577	Congenital onset
6558	SLC12A2	HP:0100753	Schizophrenia
6558	SLC12A2	HP:0011968	Feeding difficulties
6558	SLC12A2	HP:0000685	Hypoplasia of teeth
6558	SLC12A2	HP:0031936	Delayed ability to walk
6558	SLC12A2	HP:0012736	Profound global developmental delay
6558	SLC12A2	HP:0000768	Pectus carinatum
6558	SLC12A2	HP:0000750	Delayed speech and language development
6558	SLC12A2	HP:0000729	Autistic behavior
6558	SLC12A2	HP:0011476	Profound sensorineural hearing impairment
6558	SLC12A2	HP:0000256	Macrocephaly
6558	SLC12A2	HP:0002827	Hip dislocation
6558	SLC12A2	HP:0000217	Xerostomia
6558	SLC12A2	HP:0005211	Midgut malrotation
6558	SLC12A2	HP:0000369	Low-set ears
6558	SLC12A2	HP:0000341	Narrow forehead
6558	SLC12A2	HP:0001629	Ventricular septal defect
6558	SLC12A2	HP:0000303	Mandibular prognathia
6558	SLC12A2	HP:0000402	Stenosis of the external auditory canal
6558	SLC12A2	HP:0012450	Chronic constipation
6558	SLC12A2	HP:0000453	Choanal atresia
6558	SLC12A2	HP:0000522	Alacrima
6559	SLC12A3	HP:0001281	Tetany
6559	SLC12A3	HP:0001279	Syncope
6559	SLC12A3	HP:0001250	Seizure
6559	SLC12A3	HP:0001251	Ataxia
6559	SLC12A3	HP:0001262	Excessive daytime somnolence
6559	SLC12A3	HP:0007359	Focal-onset seizure
6559	SLC12A3	HP:0002514	Cerebral calcification
6559	SLC12A3	HP:0000097	Focal segmental glomerulosclerosis
6559	SLC12A3	HP:0000093	Proteinuria
6559	SLC12A3	HP:0000020	Urinary incontinence
6559	SLC12A3	HP:0000017	Nocturia
6559	SLC12A3	HP:0001324	Muscle weakness
6559	SLC12A3	HP:0000007	Autosomal recessive inheritance
6559	SLC12A3	HP:0002632	Low-to-normal blood pressure
6559	SLC12A3	HP:0002619	Varicose veins
6559	SLC12A3	HP:0002615	Hypotension
6559	SLC12A3	HP:0000128	Renal potassium wasting
6559	SLC12A3	HP:0000103	Polyuria
6559	SLC12A3	HP:0002019	Constipation
6559	SLC12A3	HP:0002017	Nausea and vomiting
6559	SLC12A3	HP:0002027	Abdominal pain
6559	SLC12A3	HP:0003326	Myalgia
6559	SLC12A3	HP:0002014	Diarrhea
6559	SLC12A3	HP:0002013	Vomiting
6559	SLC12A3	HP:0003324	Generalized muscle weakness
6559	SLC12A3	HP:0005978	Type II diabetes mellitus
6559	SLC12A3	HP:0002098	Respiratory distress
6559	SLC12A3	HP:0003394	Muscle spasm
6559	SLC12A3	HP:0011736	Primary hyperaldosteronism
6559	SLC12A3	HP:0003470	Paralysis
6559	SLC12A3	HP:0004756	Ventricular tachycardia
6559	SLC12A3	HP:0003401	Paresthesia
6559	SLC12A3	HP:0200114	Metabolic alkalosis
6559	SLC12A3	HP:0100785	Insomnia
6559	SLC12A3	HP:0002321	Vertigo
6559	SLC12A3	HP:0002315	Headache
6559	SLC12A3	HP:0100651	Type I diabetes mellitus
6559	SLC12A3	HP:0100647	Graves disease
6559	SLC12A3	HP:0025072	Prominent U wave
6559	SLC12A3	HP:0009800	Maternal diabetes
6559	SLC12A3	HP:0003621	Juvenile onset
6559	SLC12A3	HP:0005567	Renal magnesium wasting
6559	SLC12A3	HP:0001970	Tubulointerstitial nephritis
6559	SLC12A3	HP:0001962	Palpitations
6559	SLC12A3	HP:0001947	Renal tubular acidosis
6559	SLC12A3	HP:0001949	Hypokalemic alkalosis
6559	SLC12A3	HP:0001959	Polydipsia
6559	SLC12A3	HP:0001954	Recurrent fever
6559	SLC12A3	HP:0000622	Blurred vision
6559	SLC12A3	HP:0001953	Diabetic ketoacidosis
6559	SLC12A3	HP:0001952	Glucose intolerance
6559	SLC12A3	HP:0001994	Renal Fanconi syndrome
6559	SLC12A3	HP:0001997	Gout
6559	SLC12A3	HP:0000805	Enuresis
6559	SLC12A3	HP:0003127	Hypocalciuria
6559	SLC12A3	HP:0000872	Hashimoto thyroiditis
6559	SLC12A3	HP:0000855	Insulin resistance
6559	SLC12A3	HP:0100324	Scleroderma
6559	SLC12A3	HP:0000848	Increased circulating renin level
6559	SLC12A3	HP:0000823	Delayed puberty
6559	SLC12A3	HP:0030880	Raynaud phenomenon
6559	SLC12A3	HP:0003201	Rhabdomyolysis
6559	SLC12A3	HP:0000975	Hyperhidrosis
6559	SLC12A3	HP:0000934	Chondrocalcinosis
6559	SLC12A3	HP:0012248	Prolonged PR interval
6559	SLC12A3	HP:0012250	ST segment depression
6559	SLC12A3	HP:0005135	Abnormal T-wave
6559	SLC12A3	HP:0002829	Arthralgia
6559	SLC12A3	HP:0030083	Salt craving
6559	SLC12A3	HP:0002897	Parathyroid adenoma
6559	SLC12A3	HP:0002894	Neoplasm of the pancreas
6559	SLC12A3	HP:0001508	Failure to thrive
6559	SLC12A3	HP:0001510	Growth delay
6559	SLC12A3	HP:0012378	Fatigue
6559	SLC12A3	HP:0012364	Decreased urinary potassium
6559	SLC12A3	HP:0002917	Hypomagnesemia
6559	SLC12A3	HP:0002918	Hypermagnesemia
6559	SLC12A3	HP:0002900	Hypokalemia
6559	SLC12A3	HP:0002901	Hypocalcemia
6559	SLC12A3	HP:0000360	Tinnitus
6559	SLC12A3	HP:0001698	Pericardial effusion
6559	SLC12A3	HP:0001663	Ventricular fibrillation
6559	SLC12A3	HP:0001657	Prolonged QT interval
6559	SLC12A3	HP:0006789	Mitochondrial encephalopathy
6559	SLC12A3	HP:0001891	Iron deficiency anemia
6566	SLC16A1	HP:0003710	Exercise-induced muscle cramps
6566	SLC16A1	HP:0001249	Intellectual disability
6566	SLC16A1	HP:0001263	Global developmental delay
6566	SLC16A1	HP:0000007	Autosomal recessive inheritance
6566	SLC16A1	HP:0000006	Autosomal dominant inheritance
6566	SLC16A1	HP:0008967	Exercise-induced muscle stiffness
6566	SLC16A1	HP:0003457	EMG abnormality
6566	SLC16A1	HP:0002173	Hypoglycemic seizures
6566	SLC16A1	HP:0003593	Infantile onset
6566	SLC16A1	HP:0011968	Feeding difficulties
6566	SLC16A1	HP:0003621	Juvenile onset
6566	SLC16A1	HP:0001943	Hypoglycemia
6566	SLC16A1	HP:0009020	Exercise-induced muscle fatigue
6566	SLC16A1	HP:0001993	Ketoacidosis
6566	SLC16A1	HP:0012734	Ketotic hypoglycemia
6566	SLC16A1	HP:0011463	Childhood onset
6566	SLC16A1	HP:0000842	Hyperinsulinemia
6566	SLC16A1	HP:0000825	Hyperinsulinemic hypoglycemia
6566	SLC16A1	HP:0003236	Elevated circulating creatine kinase concentration
6566	SLC16A1	HP:0004510	Pancreatic islet-cell hyperplasia
6566	SLC16A1	HP:0002919	Ketonuria
6567	SLC16A2	HP:0008583	Underfolded superior helices
6567	SLC16A2	HP:0007256	Abnormal pyramidal sign
6567	SLC16A2	HP:0010864	Intellectual disability, severe
6567	SLC16A2	HP:0002421	Poor head control
6567	SLC16A2	HP:0002415	Leukodystrophy
6567	SLC16A2	HP:0003700	Generalized amyotrophy
6567	SLC16A2	HP:0001256	Intellectual disability, mild
6567	SLC16A2	HP:0001250	Seizure
6567	SLC16A2	HP:0001251	Ataxia
6567	SLC16A2	HP:0001249	Intellectual disability
6567	SLC16A2	HP:0001266	Choreoathetosis
6567	SLC16A2	HP:0001260	Dysarthria
6567	SLC16A2	HP:0001258	Spastic paraplegia
6567	SLC16A2	HP:0001257	Spasticity
6567	SLC16A2	HP:0002540	Inability to walk
6567	SLC16A2	HP:0002510	Spastic tetraplegia
6567	SLC16A2	HP:0002509	Limb hypertonia
6567	SLC16A2	HP:0001371	Flexion contracture
6567	SLC16A2	HP:0001348	Brisk reflexes
6567	SLC16A2	HP:0001347	Hyperreflexia
6567	SLC16A2	HP:0000028	Cryptorchidism
6567	SLC16A2	HP:0008872	Feeding difficulties in infancy
6567	SLC16A2	HP:0001332	Dystonia
6567	SLC16A2	HP:0002650	Scoliosis
6567	SLC16A2	HP:0001319	Neonatal hypotonia
6567	SLC16A2	HP:0008936	Axial hypotonia
6567	SLC16A2	HP:0002751	Kyphoscoliosis
6567	SLC16A2	HP:0001419	X-linked recessive inheritance
6567	SLC16A2	HP:0003324	Generalized muscle weakness
6567	SLC16A2	HP:0002071	Abnormality of extrapyramidal motor function
6567	SLC16A2	HP:0002058	Myopathic facies
6567	SLC16A2	HP:0003487	Babinski sign
6567	SLC16A2	HP:0002188	Delayed CNS myelination
6567	SLC16A2	HP:0002187	Intellectual disability, profound
6567	SLC16A2	HP:0002169	Clonus
6567	SLC16A2	HP:0003577	Congenital onset
6567	SLC16A2	HP:0002342	Intellectual disability, moderate
6567	SLC16A2	HP:0100660	Dyskinesia
6567	SLC16A2	HP:0002307	Drooling
6567	SLC16A2	HP:0002305	Athetosis
6567	SLC16A2	HP:0006887	Intellectual disability, progressive
6567	SLC16A2	HP:0000639	Nystagmus
6567	SLC16A2	HP:0011344	Severe global developmental delay
6567	SLC16A2	HP:0004322	Short stature
6567	SLC16A2	HP:0031936	Delayed ability to walk
6567	SLC16A2	HP:0100015	Stahl ear
6567	SLC16A2	HP:0000767	Pectus excavatum
6567	SLC16A2	HP:0000737	Irritability
6567	SLC16A2	HP:0000750	Delayed speech and language development
6567	SLC16A2	HP:0011448	Ankle clonus
6567	SLC16A2	HP:0011451	Primary microcephaly
6567	SLC16A2	HP:0004488	Macrocephaly at birth
6567	SLC16A2	HP:0000821	Hypothyroidism
6567	SLC16A2	HP:0003202	Skeletal muscle atrophy
6567	SLC16A2	HP:0045082	Decreased body mass index
6567	SLC16A2	HP:0008081	Pes valgus
6567	SLC16A2	HP:0000275	Narrow face
6567	SLC16A2	HP:0000276	Long face
6567	SLC16A2	HP:0001583	Rotary nystagmus
6567	SLC16A2	HP:0000252	Microcephaly
6567	SLC16A2	HP:0001561	Polyhydramnios
6567	SLC16A2	HP:0001558	Decreased fetal movement
6567	SLC16A2	HP:0001531	Failure to thrive in infancy
6567	SLC16A2	HP:0001518	Small for gestational age
6567	SLC16A2	HP:0000395	Prominent antihelix
6567	SLC16A2	HP:0006579	Prolonged neonatal jaundice
6567	SLC16A2	HP:0002926	Abnormality of thyroid physiology
6567	SLC16A2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
6567	SLC16A2	HP:0000341	Narrow forehead
6567	SLC16A2	HP:0001622	Premature birth
6567	SLC16A2	HP:0000400	Macrotia
6567	SLC16A2	HP:0012448	Delayed myelination
6567	SLC16A2	HP:0012444	Brain atrophy
6567	SLC16A2	HP:0001763	Pes planus
6567	SLC16A2	HP:0001822	Hallux valgus
6567	SLC16A2	HP:0000549	Abnormal conjugate eye movement
6569	SLC34A1	HP:0003774	Stage 5 chronic kidney disease
6569	SLC34A1	HP:0001252	Hypotonia
6569	SLC34A1	HP:0002515	Waddling gait
6569	SLC34A1	HP:0000083	Renal insufficiency
6569	SLC34A1	HP:0000093	Proteinuria
6569	SLC34A1	HP:0002659	Increased susceptibility to fractures
6569	SLC34A1	HP:0001324	Muscle weakness
6569	SLC34A1	HP:0000007	Autosomal recessive inheritance
6569	SLC34A1	HP:0000006	Autosomal dominant inheritance
6569	SLC34A1	HP:0002653	Bone pain
6569	SLC34A1	HP:0000121	Nephrocalcinosis
6569	SLC34A1	HP:0000117	Renal phosphate wasting
6569	SLC34A1	HP:0000114	Proximal tubulopathy
6569	SLC34A1	HP:0002757	Recurrent fractures
6569	SLC34A1	HP:0002756	Pathologic fracture
6569	SLC34A1	HP:0000103	Polyuria
6569	SLC34A1	HP:0002748	Rickets
6569	SLC34A1	HP:0002749	Osteomalacia
6569	SLC34A1	HP:0002049	Proximal renal tubular acidosis
6569	SLC34A1	HP:0002150	Hypercalciuria
6569	SLC34A1	HP:0002148	Hypophosphatemia
6569	SLC34A1	HP:0003537	Hypouricemia
6569	SLC34A1	HP:0002206	Pulmonary fibrosis
6569	SLC34A1	HP:0010639	Elevated alkaline phosphatase of bone origin
6569	SLC34A1	HP:0003646	Bicarbonaturia
6569	SLC34A1	HP:0004918	Hyperchloremic metabolic acidosis
6569	SLC34A1	HP:0004912	Hypophosphatemic rickets
6569	SLC34A1	HP:0004910	Bicarbonate-wasting renal tubular acidosis
6569	SLC34A1	HP:0031817	Decreased circulating parathyroid hormone level
6569	SLC34A1	HP:0012622	Chronic kidney disease
6569	SLC34A1	HP:0012606	Renal sodium wasting
6569	SLC34A1	HP:0001944	Dehydration
6569	SLC34A1	HP:0001943	Hypoglycemia
6569	SLC34A1	HP:0004322	Short stature
6569	SLC34A1	HP:0003076	Glycosuria
6569	SLC34A1	HP:0003072	Hypercalcemia
6569	SLC34A1	HP:0003081	Increased urinary potassium
6569	SLC34A1	HP:0004349	Reduced bone mineral density
6569	SLC34A1	HP:0011463	Childhood onset
6569	SLC34A1	HP:0000787	Nephrolithiasis
6569	SLC34A1	HP:0003109	Hyperphosphaturia
6569	SLC34A1	HP:0003126	Low-molecular-weight proteinuria
6569	SLC34A1	HP:0000924	Abnormality of the skeletal system
6569	SLC34A1	HP:0003149	Hyperuricosuria
6569	SLC34A1	HP:0003165	Elevated circulating parathyroid hormone level
6569	SLC34A1	HP:0000897	Rachitic rosary
6569	SLC34A1	HP:0003234	Decreased plasma carnitine
6569	SLC34A1	HP:0000939	Osteoporosis
6569	SLC34A1	HP:0000938	Osteopenia
6569	SLC34A1	HP:0031415	High serum calcitriol
6569	SLC34A1	HP:0012213	Decreased glomerular filtration rate
6569	SLC34A1	HP:0001508	Failure to thrive
6569	SLC34A1	HP:0001510	Growth delay
6569	SLC34A1	HP:0002909	Generalized aminoaciduria
6569	SLC34A1	HP:0002900	Hypokalemia
6569	SLC34A1	HP:0031428	Increased circulating osteocalcin level
6569	SLC34A1	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration
6569	SLC34A1	HP:0002979	Bowing of the legs
6569	SLC34A1	HP:0012408	Medullary nephrocalcinosis
6569	SLC34A1	HP:0001824	Weight loss
6571	SLC18A2	HP:0002451	Limb dystonia
6571	SLC18A2	HP:0002421	Poor head control
6571	SLC18A2	HP:0001290	Generalized hypotonia
6571	SLC18A2	HP:0001276	Hypertonia
6571	SLC18A2	HP:0001288	Gait disturbance
6571	SLC18A2	HP:0001285	Spastic tetraparesis
6571	SLC18A2	HP:0001256	Intellectual disability, mild
6571	SLC18A2	HP:0001252	Hypotonia
6571	SLC18A2	HP:0001251	Ataxia
6571	SLC18A2	HP:0002597	Abnormality of the vasculature
6571	SLC18A2	HP:0001260	Dysarthria
6571	SLC18A2	HP:0001263	Global developmental delay
6571	SLC18A2	HP:0025336	Delayed ability to sit
6571	SLC18A2	HP:0001347	Hyperreflexia
6571	SLC18A2	HP:0001332	Dystonia
6571	SLC18A2	HP:0000007	Autosomal recessive inheritance
6571	SLC18A2	HP:0001337	Tremor
6571	SLC18A2	HP:0001300	Parkinsonism
6571	SLC18A2	HP:0008936	Axial hypotonia
6571	SLC18A2	HP:0025403	Stooped posture
6571	SLC18A2	HP:0005968	Temperature instability
6571	SLC18A2	HP:0100543	Cognitive impairment
6571	SLC18A2	HP:0002075	Dysdiadochokinesis
6571	SLC18A2	HP:0010553	Oculogyric crisis
6571	SLC18A2	HP:0003593	Infantile onset
6571	SLC18A2	HP:0011977	Elevated urinary homovanillic acid
6571	SLC18A2	HP:0002362	Shuffling gait
6571	SLC18A2	HP:0002360	Sleep disturbance
6571	SLC18A2	HP:0002311	Incoordination
6571	SLC18A2	HP:0002310	Orofacial dyskinesia
6571	SLC18A2	HP:0031936	Delayed ability to walk
6571	SLC18A2	HP:0011443	Abnormality of coordination
6571	SLC18A2	HP:0010307	Stridor
6571	SLC18A2	HP:0000975	Hyperhidrosis
6571	SLC18A2	HP:0012378	Fatigue
6571	SLC18A2	HP:0001611	Hypernasal speech
6571	SLC18A2	HP:0012332	Abnormal autonomic nervous system physiology
6571	SLC18A2	HP:0000338	Hypomimic face
6571	SLC18A2	HP:0030215	Inappropriate crying
6571	SLC18A2	HP:0000496	Abnormality of eye movement
6571	SLC18A2	HP:0001760	Abnormal foot morphology
6571	SLC18A2	HP:0005484	Secondary microcephaly
6571	SLC18A2	HP:0000508	Ptosis
6572	SLC18A3	HP:0002421	Poor head control
6572	SLC18A3	HP:0003701	Proximal muscle weakness
6572	SLC18A3	HP:0003700	Generalized amyotrophy
6572	SLC18A3	HP:0001290	Generalized hypotonia
6572	SLC18A3	HP:0001270	Motor delay
6572	SLC18A3	HP:0001283	Bulbar palsy
6572	SLC18A3	HP:0001284	Areflexia
6572	SLC18A3	HP:0001250	Seizure
6572	SLC18A3	HP:0001252	Hypotonia
6572	SLC18A3	HP:0001251	Ataxia
6572	SLC18A3	HP:0001249	Intellectual disability
6572	SLC18A3	HP:0001265	Hyporeflexia
6572	SLC18A3	HP:0001262	Excessive daytime somnolence
6572	SLC18A3	HP:0002515	Waddling gait
6572	SLC18A3	HP:0001374	Congenital hip dislocation
6572	SLC18A3	HP:0001388	Joint laxity
6572	SLC18A3	HP:0000028	Cryptorchidism
6572	SLC18A3	HP:0000007	Autosomal recessive inheritance
6572	SLC18A3	HP:0001305	Dandy-Walker malformation
6572	SLC18A3	HP:0002650	Scoliosis
6572	SLC18A3	HP:0000175	Cleft palate
6572	SLC18A3	HP:0025401	Staring gaze
6572	SLC18A3	HP:0002751	Kyphoscoliosis
6572	SLC18A3	HP:0002020	Gastroesophageal reflux
6572	SLC18A3	HP:0002033	Poor suck
6572	SLC18A3	HP:0004661	Frontalis muscle weakness
6572	SLC18A3	HP:0003325	Limb-girdle muscle weakness
6572	SLC18A3	HP:0002015	Dysphagia
6572	SLC18A3	HP:0003306	Spinal rigidity
6572	SLC18A3	HP:0003324	Generalized muscle weakness
6572	SLC18A3	HP:0005943	Respiratory arrest
6572	SLC18A3	HP:0002089	Pulmonary hypoplasia
6572	SLC18A3	HP:0002093	Respiratory insufficiency
6572	SLC18A3	HP:0003388	Easy fatigability
6572	SLC18A3	HP:0010489	Absent palmar crease
6572	SLC18A3	HP:0003473	Fatigable weakness
6572	SLC18A3	HP:0003458	EMG: myopathic abnormalities
6572	SLC18A3	HP:0002104	Apnea
6572	SLC18A3	HP:0100490	Camptodactyly of finger
6572	SLC18A3	HP:0010536	Central sleep apnea
6572	SLC18A3	HP:0004885	Episodic respiratory distress
6572	SLC18A3	HP:0003546	Exercise intolerance
6572	SLC18A3	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
6572	SLC18A3	HP:0002205	Recurrent respiratory infections
6572	SLC18A3	HP:0011968	Feeding difficulties
6572	SLC18A3	HP:0010628	Facial palsy
6572	SLC18A3	HP:0002392	EEG with polyspike wave complexes
6572	SLC18A3	HP:0001059	Pterygium
6572	SLC18A3	HP:0003693	Distal amyotrophy
6572	SLC18A3	HP:0002375	Hypokinesia
6572	SLC18A3	HP:0002355	Difficulty walking
6572	SLC18A3	HP:0008443	Neuropathic spinal arthropathy
6572	SLC18A3	HP:0002304	Akinesia
6572	SLC18A3	HP:0007178	Motor polyneuropathy
6572	SLC18A3	HP:0000639	Nystagmus
6572	SLC18A3	HP:0000651	Diplopia
6572	SLC18A3	HP:0000602	Ophthalmoplegia
6572	SLC18A3	HP:0009053	Distal lower limb muscle weakness
6572	SLC18A3	HP:0001989	Fetal akinesia sequence
6572	SLC18A3	HP:0000768	Pectus carinatum
6572	SLC18A3	HP:0011469	Nasal regurgitation
6572	SLC18A3	HP:0012801	Narrow jaw
6572	SLC18A3	HP:0030842	Choking episodes
6572	SLC18A3	HP:0010307	Stridor
6572	SLC18A3	HP:0100285	EMG: impaired neuromuscular transmission
6572	SLC18A3	HP:0000961	Cyanosis
6572	SLC18A3	HP:0100295	Muscle fiber atrophy
6572	SLC18A3	HP:0000276	Long face
6572	SLC18A3	HP:0002828	Multiple joint contractures
6572	SLC18A3	HP:0002804	Arthrogryposis multiplex congenita
6572	SLC18A3	HP:0006380	Knee flexion contracture
6572	SLC18A3	HP:0002882	Sudden episodic apnea
6572	SLC18A3	HP:0000218	High palate
6572	SLC18A3	HP:0001561	Polyhydramnios
6572	SLC18A3	HP:0001558	Decreased fetal movement
6572	SLC18A3	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
6572	SLC18A3	HP:0002870	Obstructive sleep apnea
6572	SLC18A3	HP:0030051	Tip-toe gait
6572	SLC18A3	HP:0001511	Intrauterine growth retardation
6572	SLC18A3	HP:0012378	Fatigue
6572	SLC18A3	HP:0030208	Anti-acetylcholine receptor antibody positivity
6572	SLC18A3	HP:0005245	Intestinal hypoplasia
6572	SLC18A3	HP:0001618	Dysphonia
6572	SLC18A3	HP:0001612	Weak cry
6572	SLC18A3	HP:0001611	Hypernasal speech
6572	SLC18A3	HP:0000358	Posteriorly rotated ears
6572	SLC18A3	HP:0000369	Low-set ears
6572	SLC18A3	HP:0000347	Micrognathia
6572	SLC18A3	HP:0000316	Hypertelorism
6572	SLC18A3	HP:0000308	Microretrognathia
6572	SLC18A3	HP:0000407	Sensorineural hearing impairment
6572	SLC18A3	HP:0005280	Depressed nasal bridge
6572	SLC18A3	HP:0000476	Cystic hygroma
6572	SLC18A3	HP:0000467	Neck muscle weakness
6572	SLC18A3	HP:0001761	Pes cavus
6572	SLC18A3	HP:0000508	Ptosis
6572	SLC18A3	HP:0000565	Esotropia
6573	SLC19A1	HP:0000007	Autosomal recessive inheritance
6573	SLC19A1	HP:0025435	Increased circulating lactate dehydrogenase concentration
6573	SLC19A1	HP:0100502	Vitamin B12 deficiency
6573	SLC19A1	HP:0002160	Hyperhomocystinemia
6573	SLC19A1	HP:0004851	Folate-responsive megaloblastic anemia
6573	SLC19A1	HP:0004821	Hypersegmentation of neutrophil nuclei
6573	SLC19A1	HP:0004802	Episodic hemolytic anemia
6573	SLC19A1	HP:0003621	Juvenile onset
6573	SLC19A1	HP:0001981	Schistocytosis
6573	SLC19A1	HP:0003281	Increased circulating ferritin concentration
6573	SLC19A1	HP:0002904	Hyperbilirubinemia
6573	SLC19A1	HP:0031688	Erythroid dysplasia
6575	SLC20A2	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
6575	SLC20A2	HP:0007256	Abnormal pyramidal sign
6575	SLC20A2	HP:0002406	Limb dysmetria
6575	SLC20A2	HP:0001268	Mental deterioration
6575	SLC20A2	HP:0001288	Gait disturbance
6575	SLC20A2	HP:0001250	Seizure
6575	SLC20A2	HP:0001260	Dysarthria
6575	SLC20A2	HP:0001263	Global developmental delay
6575	SLC20A2	HP:0002514	Cerebral calcification
6575	SLC20A2	HP:0002504	Calcification of the small brain vessels
6575	SLC20A2	HP:0001392	Abnormality of the liver
6575	SLC20A2	HP:0000020	Urinary incontinence
6575	SLC20A2	HP:0001347	Hyperreflexia
6575	SLC20A2	HP:0001332	Dystonia
6575	SLC20A2	HP:0001337	Tremor
6575	SLC20A2	HP:0000006	Autosomal dominant inheritance
6575	SLC20A2	HP:0001300	Parkinsonism
6575	SLC20A2	HP:0002067	Bradykinesia
6575	SLC20A2	HP:0002063	Rigidity
6575	SLC20A2	HP:0002075	Dysdiadochokinesis
6575	SLC20A2	HP:0002072	Chorea
6575	SLC20A2	HP:0002119	Ventriculomegaly
6575	SLC20A2	HP:0002135	Basal ganglia calcification
6575	SLC20A2	HP:0002172	Postural instability
6575	SLC20A2	HP:0002269	Abnormality of neuronal migration
6575	SLC20A2	HP:0002240	Hepatomegaly
6575	SLC20A2	HP:0003581	Adult onset
6575	SLC20A2	HP:0003676	Progressive
6575	SLC20A2	HP:0002354	Memory impairment
6575	SLC20A2	HP:0002305	Athetosis
6575	SLC20A2	HP:0001933	Subcutaneous hemorrhage
6575	SLC20A2	HP:0004363	Abnormal circulating calcium concentration
6575	SLC20A2	HP:0031908	Micrographia
6575	SLC20A2	HP:0000716	Depression
6575	SLC20A2	HP:0000709	Psychosis
6575	SLC20A2	HP:0011463	Childhood onset
6575	SLC20A2	HP:0000298	Mask-like facies
6575	SLC20A2	HP:0000252	Microcephaly
6575	SLC20A2	HP:0001511	Intrauterine growth retardation
6575	SLC20A2	HP:0007957	Corneal opacity
6575	SLC20A2	HP:0001873	Thrombocytopenia
6576	SLC25A1	HP:0002421	Poor head control
6576	SLC25A1	HP:0003701	Proximal muscle weakness
6576	SLC25A1	HP:0001298	Encephalopathy
6576	SLC25A1	HP:0001274	Agenesis of corpus callosum
6576	SLC25A1	HP:0001270	Motor delay
6576	SLC25A1	HP:0001283	Bulbar palsy
6576	SLC25A1	HP:0001284	Areflexia
6576	SLC25A1	HP:0001250	Seizure
6576	SLC25A1	HP:0001252	Hypotonia
6576	SLC25A1	HP:0001251	Ataxia
6576	SLC25A1	HP:0001249	Intellectual disability
6576	SLC25A1	HP:0001265	Hyporeflexia
6576	SLC25A1	HP:0001263	Global developmental delay
6576	SLC25A1	HP:0002515	Waddling gait
6576	SLC25A1	HP:0001374	Congenital hip dislocation
6576	SLC25A1	HP:0001388	Joint laxity
6576	SLC25A1	HP:0001324	Muscle weakness
6576	SLC25A1	HP:0000007	Autosomal recessive inheritance
6576	SLC25A1	HP:0001321	Cerebellar hypoplasia
6576	SLC25A1	HP:0008981	Calf muscle hypertrophy
6576	SLC25A1	HP:0025401	Staring gaze
6576	SLC25A1	HP:0002751	Kyphoscoliosis
6576	SLC25A1	HP:0002020	Gastroesophageal reflux
6576	SLC25A1	HP:0002033	Poor suck
6576	SLC25A1	HP:0004661	Frontalis muscle weakness
6576	SLC25A1	HP:0003325	Limb-girdle muscle weakness
6576	SLC25A1	HP:0002015	Dysphagia
6576	SLC25A1	HP:0003306	Spinal rigidity
6576	SLC25A1	HP:0003324	Generalized muscle weakness
6576	SLC25A1	HP:0005943	Respiratory arrest
6576	SLC25A1	HP:0002094	Dyspnea
6576	SLC25A1	HP:0002093	Respiratory insufficiency
6576	SLC25A1	HP:0003388	Easy fatigability
6576	SLC25A1	HP:0003473	Fatigable weakness
6576	SLC25A1	HP:0002119	Ventriculomegaly
6576	SLC25A1	HP:0003458	EMG: myopathic abnormalities
6576	SLC25A1	HP:0010536	Central sleep apnea
6576	SLC25A1	HP:0003593	Infantile onset
6576	SLC25A1	HP:0002240	Hepatomegaly
6576	SLC25A1	HP:0100704	Cerebral visual impairment
6576	SLC25A1	HP:0004885	Episodic respiratory distress
6576	SLC25A1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
6576	SLC25A1	HP:0002205	Recurrent respiratory infections
6576	SLC25A1	HP:0011968	Feeding difficulties
6576	SLC25A1	HP:0002392	EEG with polyspike wave complexes
6576	SLC25A1	HP:0003693	Distal amyotrophy
6576	SLC25A1	HP:0002359	Frequent falls
6576	SLC25A1	HP:0002355	Difficulty walking
6576	SLC25A1	HP:0008443	Neuropathic spinal arthropathy
6576	SLC25A1	HP:0003623	Neonatal onset
6576	SLC25A1	HP:0007178	Motor polyneuropathy
6576	SLC25A1	HP:0006829	Severe muscular hypotonia
6576	SLC25A1	HP:0000639	Nystagmus
6576	SLC25A1	HP:0000651	Diplopia
6576	SLC25A1	HP:0000602	Ophthalmoplegia
6576	SLC25A1	HP:0009053	Distal lower limb muscle weakness
6576	SLC25A1	HP:0031936	Delayed ability to walk
6576	SLC25A1	HP:0000768	Pectus carinatum
6576	SLC25A1	HP:0000737	Irritability
6576	SLC25A1	HP:0011469	Nasal regurgitation
6576	SLC25A1	HP:0012801	Narrow jaw
6576	SLC25A1	HP:0033092	Increased urine succinate level
6576	SLC25A1	HP:0030842	Choking episodes
6576	SLC25A1	HP:0010307	Stridor
6576	SLC25A1	HP:0100285	EMG: impaired neuromuscular transmission
6576	SLC25A1	HP:0000961	Cyanosis
6576	SLC25A1	HP:0040144	L-2-hydroxyglutaric aciduria
6576	SLC25A1	HP:0100295	Muscle fiber atrophy
6576	SLC25A1	HP:0000256	Macrocephaly
6576	SLC25A1	HP:0000276	Long face
6576	SLC25A1	HP:0002804	Arthrogryposis multiplex congenita
6576	SLC25A1	HP:0000252	Microcephaly
6576	SLC25A1	HP:0002882	Sudden episodic apnea
6576	SLC25A1	HP:0000218	High palate
6576	SLC25A1	HP:0001561	Polyhydramnios
6576	SLC25A1	HP:0001558	Decreased fetal movement
6576	SLC25A1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
6576	SLC25A1	HP:0002870	Obstructive sleep apnea
6576	SLC25A1	HP:0030051	Tip-toe gait
6576	SLC25A1	HP:0030205	Increased jitter at single fiber EMG
6576	SLC25A1	HP:0030208	Anti-acetylcholine receptor antibody positivity
6576	SLC25A1	HP:0001618	Dysphonia
6576	SLC25A1	HP:0001612	Weak cry
6576	SLC25A1	HP:0001611	Hypernasal speech
6576	SLC25A1	HP:0000369	Low-set ears
6576	SLC25A1	HP:0000308	Microretrognathia
6576	SLC25A1	HP:0000407	Sensorineural hearing impairment
6576	SLC25A1	HP:0012448	Delayed myelination
6576	SLC25A1	HP:0000467	Neck muscle weakness
6576	SLC25A1	HP:0012402	Increased urine alpha-ketoglutarate concentration
6576	SLC25A1	HP:0001761	Pes cavus
6576	SLC25A1	HP:0000508	Ptosis
6576	SLC25A1	HP:0000565	Esotropia
6578	SLCO2A1	HP:0010885	Avascular necrosis
6578	SLCO2A1	HP:0001231	Abnormal fingernail morphology
6578	SLCO2A1	HP:0001217	Clubbing
6578	SLCO2A1	HP:0001376	Limitation of joint mobility
6578	SLCO2A1	HP:0001369	Arthritis
6578	SLCO2A1	HP:0001386	Joint swelling
6578	SLCO2A1	HP:0000007	Autosomal recessive inheritance
6578	SLCO2A1	HP:0000006	Autosomal dominant inheritance
6578	SLCO2A1	HP:0002653	Bone pain
6578	SLCO2A1	HP:0002650	Scoliosis
6578	SLCO2A1	HP:0002797	Osteolysis
6578	SLCO2A1	HP:0002754	Osteomyelitis
6578	SLCO2A1	HP:0002024	Malabsorption
6578	SLCO2A1	HP:0100526	Neoplasm of the lung
6578	SLCO2A1	HP:0005930	Abnormal epiphysis morphology
6578	SLCO2A1	HP:0010541	Cutis gyrata of scalp
6578	SLCO2A1	HP:0002240	Hepatomegaly
6578	SLCO2A1	HP:0002239	Gastrointestinal hemorrhage
6578	SLCO2A1	HP:0010720	Abnormal hair pattern
6578	SLCO2A1	HP:0100774	Hyperostosis
6578	SLCO2A1	HP:0100760	Clubbing of toes
6578	SLCO2A1	HP:0100759	Clubbing of fingers
6578	SLCO2A1	HP:0001051	Seborrheic dermatitis
6578	SLCO2A1	HP:0001061	Acne
6578	SLCO2A1	HP:0010829	Impaired temperature sensation
6578	SLCO2A1	HP:0001072	Thickened skin
6578	SLCO2A1	HP:0200055	Small hand
6578	SLCO2A1	HP:0003621	Juvenile onset
6578	SLCO2A1	HP:0034049	Elevated urinary prostaglandin E2 level
6578	SLCO2A1	HP:0005561	Abnormality of bone marrow cell morphology
6578	SLCO2A1	HP:0001903	Anemia
6578	SLCO2A1	HP:0011362	Abnormal hair quantity
6578	SLCO2A1	HP:0003073	Hypoalbuminemia
6578	SLCO2A1	HP:0004398	Peptic ulcer
6578	SLCO2A1	HP:0000771	Gynecomastia
6578	SLCO2A1	HP:0100021	Cerebral palsy
6578	SLCO2A1	HP:0011462	Young adult onset
6578	SLCO2A1	HP:0003103	Abnormal cortical bone morphology
6578	SLCO2A1	HP:0000845	Elevated circulating growth hormone concentration
6578	SLCO2A1	HP:0030839	Knee pain
6578	SLCO2A1	HP:0000976	Eczematoid dermatitis
6578	SLCO2A1	HP:0000975	Hyperhidrosis
6578	SLCO2A1	HP:0000982	Palmoplantar keratoderma
6578	SLCO2A1	HP:0000969	Edema
6578	SLCO2A1	HP:0000939	Osteoporosis
6578	SLCO2A1	HP:0008069	Neoplasm of the skin
6578	SLCO2A1	HP:0000280	Coarse facial features
6578	SLCO2A1	HP:0006465	Periosteal thickening of long tubular bones
6578	SLCO2A1	HP:0002829	Arthralgia
6578	SLCO2A1	HP:0005208	Secretory diarrhea
6578	SLCO2A1	HP:0002970	Genu varum
6578	SLCO2A1	HP:0030314	Periostosis
6578	SLCO2A1	HP:0001744	Splenomegaly
6578	SLCO2A1	HP:0000508	Ptosis
6583	SLC22A4	HP:0001370	Rheumatoid arthritis
6583	SLC22A4	HP:0001386	Joint swelling
6583	SLC22A4	HP:0001387	Joint stiffness
6583	SLC22A4	HP:0006150	Swan neck-like deformities of the fingers
6583	SLC22A4	HP:0002633	Vasculitis
6583	SLC22A4	HP:0006252	Interphalangeal joint erosions
6583	SLC22A4	HP:0003565	Elevated erythrocyte sedimentation rate
6583	SLC22A4	HP:0001945	Fever
6583	SLC22A4	HP:0005764	Polyarticular arthritis
6583	SLC22A4	HP:0033034	Anti-citrullinated protein antibody positivity
6583	SLC22A4	HP:0012276	Digital flexor tenosynovitis
6583	SLC22A4	HP:0002829	Arthralgia
6583	SLC22A4	HP:0012378	Fatigue
6583	SLC22A4	HP:0002923	Rheumatoid factor positive
6583	SLC22A4	HP:0001824	Weight loss
6583	SLC22A4	HP:0011227	Elevated circulating C-reactive protein concentration
6584	SLC22A5	HP:0003701	Proximal muscle weakness
6584	SLC22A5	HP:0001298	Encephalopathy
6584	SLC22A5	HP:0001290	Generalized hypotonia
6584	SLC22A5	HP:0001289	Confusion
6584	SLC22A5	HP:0001254	Lethargy
6584	SLC22A5	HP:0001252	Hypotonia
6584	SLC22A5	HP:0001263	Global developmental delay
6584	SLC22A5	HP:0001262	Excessive daytime somnolence
6584	SLC22A5	HP:0001259	Coma
6584	SLC22A5	HP:0007334	Bilateral tonic-clonic seizure with focal onset
6584	SLC22A5	HP:0001324	Muscle weakness
6584	SLC22A5	HP:0000007	Autosomal recessive inheritance
6584	SLC22A5	HP:0001414	Microvesicular hepatic steatosis
6584	SLC22A5	HP:0002014	Diarrhea
6584	SLC22A5	HP:0002013	Vomiting
6584	SLC22A5	HP:0005959	Impaired gluconeogenesis
6584	SLC22A5	HP:0002098	Respiratory distress
6584	SLC22A5	HP:0002240	Hepatomegaly
6584	SLC22A5	HP:0002312	Clumsiness
6584	SLC22A5	HP:0006846	Acute encephalopathy
6584	SLC22A5	HP:0001944	Dehydration
6584	SLC22A5	HP:0001946	Ketosis
6584	SLC22A5	HP:0001988	Recurrent hypoglycemia
6584	SLC22A5	HP:0001987	Hyperammonemia
6584	SLC22A5	HP:0031956	Elevated circulating aspartate aminotransferase concentration
6584	SLC22A5	HP:0031964	Elevated circulating alanine aminotransferase concentration
6584	SLC22A5	HP:0011463	Childhood onset
6584	SLC22A5	HP:0003198	Myopathy
6584	SLC22A5	HP:0003236	Elevated circulating creatine kinase concentration
6584	SLC22A5	HP:0003234	Decreased plasma carnitine
6584	SLC22A5	HP:0003215	Dicarboxylic aciduria
6584	SLC22A5	HP:0045061	Decreased carnitine level in liver
6584	SLC22A5	HP:0001508	Failure to thrive
6584	SLC22A5	HP:0002910	Elevated hepatic transaminase
6584	SLC22A5	HP:0001653	Mitral regurgitation
6584	SLC22A5	HP:0001640	Cardiomegaly
6584	SLC22A5	HP:0001639	Hypertrophic cardiomyopathy
6584	SLC22A5	HP:0001635	Congestive heart failure
6584	SLC22A5	HP:0001638	Cardiomyopathy
6584	SLC22A5	HP:0001706	Endocardial fibroelastosis
6584	SLC22A5	HP:0000467	Neck muscle weakness
6584	SLC22A5	HP:0030362	Reduced muscle carnitine level
6591	SNAI2	HP:0001100	Heterochromia iridis
6591	SNAI2	HP:0001252	Hypotonia
6591	SNAI2	HP:0001251	Ataxia
6591	SNAI2	HP:0001249	Intellectual disability
6591	SNAI2	HP:0007443	Partial albinism
6591	SNAI2	HP:0000077	Abnormality of the kidney
6591	SNAI2	HP:0002683	Abnormal calvaria morphology
6591	SNAI2	HP:0007542	Absent pigmentation of the ventral chest
6591	SNAI2	HP:0007544	Piebaldism
6591	SNAI2	HP:0002664	Neoplasm
6591	SNAI2	HP:0000007	Autosomal recessive inheritance
6591	SNAI2	HP:0000006	Autosomal dominant inheritance
6591	SNAI2	HP:0003577	Congenital onset
6591	SNAI2	HP:0002251	Aganglionic megacolon
6591	SNAI2	HP:0002216	Premature graying of hair
6591	SNAI2	HP:0002227	White eyelashes
6591	SNAI2	HP:0002226	White eyebrow
6591	SNAI2	HP:0002211	White forelock
6591	SNAI2	HP:0001053	Hypopigmented skin patches
6591	SNAI2	HP:0008527	Congenital sensorineural hearing impairment
6591	SNAI2	HP:0005599	Hypopigmentation of hair
6591	SNAI2	HP:0000664	Synophrys
6591	SNAI2	HP:0012733	Macule
6591	SNAI2	HP:0004414	Abnormality of the pulmonary artery
6591	SNAI2	HP:0008069	Neoplasm of the skin
6591	SNAI2	HP:0000252	Microcephaly
6591	SNAI2	HP:0000365	Hearing impairment
6591	SNAI2	HP:0000343	Long philtrum
6591	SNAI2	HP:0000407	Sensorineural hearing impairment
6591	SNAI2	HP:0000431	Wide nasal bridge
6591	SNAI2	HP:0000506	Telecanthus
6591	SNAI2	HP:0000508	Ptosis
6591	SNAI2	HP:0000598	Abnormality of the ear
6595	SMARCA2	HP:0001182	Tapered finger
6595	SMARCA2	HP:0001156	Brachydactyly
6595	SMARCA2	HP:0001167	Abnormal finger morphology
6595	SMARCA2	HP:0002465	Poor speech
6595	SMARCA2	HP:0009928	Thick nasal alae
6595	SMARCA2	HP:0010864	Intellectual disability, severe
6595	SMARCA2	HP:0009882	Short distal phalanx of finger
6595	SMARCA2	HP:0008551	Microtia
6595	SMARCA2	HP:0100807	Long fingers
6595	SMARCA2	HP:0001270	Motor delay
6595	SMARCA2	HP:0001256	Intellectual disability, mild
6595	SMARCA2	HP:0001250	Seizure
6595	SMARCA2	HP:0001252	Hypotonia
6595	SMARCA2	HP:0001249	Intellectual disability
6595	SMARCA2	HP:0001263	Global developmental delay
6595	SMARCA2	HP:0007392	Excessive wrinkled skin
6595	SMARCA2	HP:0002553	Highly arched eyebrow
6595	SMARCA2	HP:0000093	Proteinuria
6595	SMARCA2	HP:0000066	Labial hypoplasia
6595	SMARCA2	HP:0000046	Small scrotum
6595	SMARCA2	HP:0001371	Flexion contracture
6595	SMARCA2	HP:0001373	Joint dislocation
6595	SMARCA2	HP:0001385	Hip dysplasia
6595	SMARCA2	HP:0001388	Joint laxity
6595	SMARCA2	HP:0025325	Sparse medial eyebrow
6595	SMARCA2	HP:0000047	Hypospadias
6595	SMARCA2	HP:0000023	Inguinal hernia
6595	SMARCA2	HP:0000035	Abnormal testis morphology
6595	SMARCA2	HP:0001357	Plagiocephaly
6595	SMARCA2	HP:0000028	Cryptorchidism
6595	SMARCA2	HP:0008897	Postnatal growth retardation
6595	SMARCA2	HP:0006237	Prominent interphalangeal joints
6595	SMARCA2	HP:0033725	Thin corpus callosum
6595	SMARCA2	HP:0001328	Specific learning disability
6595	SMARCA2	HP:0000010	Recurrent urinary tract infections
6595	SMARCA2	HP:0001344	Absent speech
6595	SMARCA2	HP:0000006	Autosomal dominant inheritance
6595	SMARCA2	HP:0002650	Scoliosis
6595	SMARCA2	HP:0000179	Thick lower lip vermilion
6595	SMARCA2	HP:0000175	Cleft palate
6595	SMARCA2	HP:0000154	Wide mouth
6595	SMARCA2	HP:0007665	Curly eyelashes
6595	SMARCA2	HP:0002705	High, narrow palate
6595	SMARCA2	HP:0006297	Enamel hypoplasia
6595	SMARCA2	HP:0012110	Hypoplasia of the pons
6595	SMARCA2	HP:0002750	Delayed skeletal maturation
6595	SMARCA2	HP:0002020	Gastroesophageal reflux
6595	SMARCA2	HP:0002019	Constipation
6595	SMARCA2	HP:0002007	Frontal bossing
6595	SMARCA2	HP:0002066	Gait ataxia
6595	SMARCA2	HP:0005930	Abnormal epiphysis morphology
6595	SMARCA2	HP:0005916	Abnormal metacarpal morphology
6595	SMARCA2	HP:0002121	Generalized non-motor (absence) seizure
6595	SMARCA2	HP:0002133	Status epilepticus
6595	SMARCA2	HP:0002162	Low posterior hairline
6595	SMARCA2	HP:0010529	Echolalia
6595	SMARCA2	HP:0010511	Long toe
6595	SMARCA2	HP:0002263	Exaggerated cupid's bow
6595	SMARCA2	HP:0002223	Absent eyebrow
6595	SMARCA2	HP:0002209	Sparse scalp hair
6595	SMARCA2	HP:0002205	Recurrent respiratory infections
6595	SMARCA2	HP:0010720	Abnormal hair pattern
6595	SMARCA2	HP:0100790	Hernia
6595	SMARCA2	HP:0100760	Clubbing of toes
6595	SMARCA2	HP:0007018	Attention deficit hyperactivity disorder
6595	SMARCA2	HP:0011968	Feeding difficulties
6595	SMARCA2	HP:0010624	Aplastic/hypoplastic toenail
6595	SMARCA2	HP:0003510	Severe short stature
6595	SMARCA2	HP:0003502	Mild short stature
6595	SMARCA2	HP:0002381	Aphasia
6595	SMARCA2	HP:0001018	Abnormal palmar dermatoglyphics
6595	SMARCA2	HP:0100678	Premature skin wrinkling
6595	SMARCA2	HP:0009836	Broad distal phalanx of finger
6595	SMARCA2	HP:0009803	Short phalanx of finger
6595	SMARCA2	HP:0010751	Dimple chin
6595	SMARCA2	HP:0010743	Short metatarsal
6595	SMARCA2	HP:0009765	Low hanging columella
6595	SMARCA2	HP:0002300	Mutism
6595	SMARCA2	HP:0003623	Neonatal onset
6595	SMARCA2	HP:0002308	Chiari malformation
6595	SMARCA2	HP:0002307	Drooling
6595	SMARCA2	HP:0004209	Clinodactyly of the 5th finger
6595	SMARCA2	HP:0004279	Short palm
6595	SMARCA2	HP:0012619	Multiple bladder diverticula
6595	SMARCA2	HP:0000646	Amblyopia
6595	SMARCA2	HP:0000607	Periorbital wrinkles
6595	SMARCA2	HP:0010049	Short metacarpal
6595	SMARCA2	HP:0011359	Dry hair
6595	SMARCA2	HP:0000691	Microdontia
6595	SMARCA2	HP:0000689	Dental malocclusion
6595	SMARCA2	HP:0000685	Hypoplasia of teeth
6595	SMARCA2	HP:0000687	Widely spaced teeth
6595	SMARCA2	HP:0000653	Sparse eyelashes
6595	SMARCA2	HP:0000664	Synophrys
6595	SMARCA2	HP:0004322	Short stature
6595	SMARCA2	HP:0005616	Accelerated skeletal maturation
6595	SMARCA2	HP:0030680	Abnormality of cardiovascular system morphology
6595	SMARCA2	HP:0000805	Enuresis
6595	SMARCA2	HP:0003037	Enlarged joints
6595	SMARCA2	HP:0031936	Delayed ability to walk
6595	SMARCA2	HP:0012745	Short palpebral fissure
6595	SMARCA2	HP:0100025	Overfriendliness
6595	SMARCA2	HP:0000736	Short attention span
6595	SMARCA2	HP:0000750	Delayed speech and language development
6595	SMARCA2	HP:0100040	Broad 2nd toe
6595	SMARCA2	HP:0000744	Low frustration tolerance
6595	SMARCA2	HP:0000718	Aggressive behavior
6595	SMARCA2	HP:0000729	Autistic behavior
6595	SMARCA2	HP:0012768	Neonatal asphyxia
6595	SMARCA2	HP:0003196	Short nose
6595	SMARCA2	HP:0012810	Wide nasal base
6595	SMARCA2	HP:0045075	Sparse eyebrow
6595	SMARCA2	HP:0000998	Hypertrichosis
6595	SMARCA2	HP:0000957	Cafe-au-lait spot
6595	SMARCA2	HP:0000954	Single transverse palmar crease
6595	SMARCA2	HP:0000964	Eczema
6595	SMARCA2	HP:0045025	Narrow palpebral fissure
6595	SMARCA2	HP:0008070	Sparse hair
6595	SMARCA2	HP:0008064	Ichthyosis
6595	SMARCA2	HP:0000286	Epicanthus
6595	SMARCA2	HP:0000294	Low anterior hairline
6595	SMARCA2	HP:0000289	Broad philtrum
6595	SMARCA2	HP:0001596	Alopecia
6595	SMARCA2	HP:0000252	Microcephaly
6595	SMARCA2	HP:0000219	Thin upper lip vermilion
6595	SMARCA2	HP:0000233	Thin vermilion border
6595	SMARCA2	HP:0000232	Everted lower lip vermilion
6595	SMARCA2	HP:0000200	Short lingual frenulum
6595	SMARCA2	HP:0001537	Umbilical hernia
6595	SMARCA2	HP:0001508	Failure to thrive
6595	SMARCA2	HP:0002837	Recurrent bronchitis
6595	SMARCA2	HP:0001511	Intrauterine growth retardation
6595	SMARCA2	HP:0001510	Growth delay
6595	SMARCA2	HP:0011097	Epileptic spasm
6595	SMARCA2	HP:0000384	Preauricular skin tag
6595	SMARCA2	HP:0012368	Flat face
6595	SMARCA2	HP:0006532	Recurrent pneumonia
6595	SMARCA2	HP:0000365	Hearing impairment
6595	SMARCA2	HP:0000356	Abnormality of the outer ear
6595	SMARCA2	HP:0000358	Posteriorly rotated ears
6595	SMARCA2	HP:0000369	Low-set ears
6595	SMARCA2	HP:0000343	Long philtrum
6595	SMARCA2	HP:0001680	Coarctation of aorta
6595	SMARCA2	HP:0000319	Smooth philtrum
6595	SMARCA2	HP:0000316	Hypertelorism
6595	SMARCA2	HP:0001643	Patent ductus arteriosus
6595	SMARCA2	HP:0030148	Heart murmur
6595	SMARCA2	HP:0000322	Short philtrum
6595	SMARCA2	HP:0000325	Triangular face
6595	SMARCA2	HP:0001631	Atrial septal defect
6595	SMARCA2	HP:0007946	Unilateral narrow palpebral fissure
6595	SMARCA2	HP:0006610	Wide intermamillary distance
6595	SMARCA2	HP:0000403	Recurrent otitis media
6595	SMARCA2	HP:0000400	Macrotia
6595	SMARCA2	HP:0000494	Downslanted palpebral fissures
6595	SMARCA2	HP:0000463	Anteverted nares
6595	SMARCA2	HP:0001763	Pes planus
6595	SMARCA2	HP:0000446	Narrow nasal bridge
6595	SMARCA2	HP:0000445	Wide nose
6595	SMARCA2	HP:0000418	Narrow nasal ridge
6595	SMARCA2	HP:0000414	Bulbous nose
6595	SMARCA2	HP:0001762	Talipes equinovarus
6595	SMARCA2	HP:0000431	Wide nasal bridge
6595	SMARCA2	HP:0000430	Underdeveloped nasal alae
6595	SMARCA2	HP:0000527	Long eyelashes
6595	SMARCA2	HP:0001852	Sandal gap
6595	SMARCA2	HP:0001822	Hallux valgus
6595	SMARCA2	HP:0000508	Ptosis
6595	SMARCA2	HP:0000581	Blepharophimosis
6595	SMARCA2	HP:0000574	Thick eyebrow
6595	SMARCA2	HP:0000568	Microphthalmia
6597	SMARCA4	HP:0009928	Thick nasal alae
6597	SMARCA4	HP:0010864	Intellectual disability, severe
6597	SMARCA4	HP:0009879	Simplified gyral pattern
6597	SMARCA4	HP:0001274	Agenesis of corpus callosum
6597	SMARCA4	HP:0001250	Seizure
6597	SMARCA4	HP:0001252	Hypotonia
6597	SMARCA4	HP:0001249	Intellectual disability
6597	SMARCA4	HP:0001263	Global developmental delay
6597	SMARCA4	HP:0000085	Horseshoe kidney
6597	SMARCA4	HP:0001388	Joint laxity
6597	SMARCA4	HP:0000047	Hypospadias
6597	SMARCA4	HP:0000028	Cryptorchidism
6597	SMARCA4	HP:0008897	Postnatal growth retardation
6597	SMARCA4	HP:0006237	Prominent interphalangeal joints
6597	SMARCA4	HP:0001344	Absent speech
6597	SMARCA4	HP:0000006	Autosomal dominant inheritance
6597	SMARCA4	HP:0001305	Dandy-Walker malformation
6597	SMARCA4	HP:0002650	Scoliosis
6597	SMARCA4	HP:0000179	Thick lower lip vermilion
6597	SMARCA4	HP:0000158	Macroglossia
6597	SMARCA4	HP:0000175	Cleft palate
6597	SMARCA4	HP:0000154	Wide mouth
6597	SMARCA4	HP:0008947	Infantile muscular hypotonia
6597	SMARCA4	HP:0000119	Abnormality of the genitourinary system
6597	SMARCA4	HP:0002788	Recurrent upper respiratory tract infections
6597	SMARCA4	HP:0002750	Delayed skeletal maturation
6597	SMARCA4	HP:0002719	Recurrent infections
6597	SMARCA4	HP:0034401	Atypical teratoid/rhabdoid tumor
6597	SMARCA4	HP:0034402	Rhabdoid tumor of the kidney
6597	SMARCA4	HP:0011937	Hypoplastic fifth toenail
6597	SMARCA4	HP:0003593	Infantile onset
6597	SMARCA4	HP:0002209	Sparse scalp hair
6597	SMARCA4	HP:0100790	Hernia
6597	SMARCA4	HP:0011968	Feeding difficulties
6597	SMARCA4	HP:0011951	Aspiration pneumonia
6597	SMARCA4	HP:0008398	Hypoplastic fifth fingernail
6597	SMARCA4	HP:0002342	Intellectual disability, moderate
6597	SMARCA4	HP:0001007	Hirsutism
6597	SMARCA4	HP:0010803	Everted upper lip vermilion
6597	SMARCA4	HP:0004935	Pulmonary artery atresia
6597	SMARCA4	HP:0000684	Delayed eruption of teeth
6597	SMARCA4	HP:0001999	Abnormal facial shape
6597	SMARCA4	HP:0004322	Short stature
6597	SMARCA4	HP:0000752	Hyperactivity
6597	SMARCA4	HP:0000718	Aggressive behavior
6597	SMARCA4	HP:0000729	Autistic behavior
6597	SMARCA4	HP:0000708	Atypical behavior
6597	SMARCA4	HP:0003196	Short nose
6597	SMARCA4	HP:0100368	Short phalanx of the 5th toe
6597	SMARCA4	HP:0012810	Wide nasal base
6597	SMARCA4	HP:0011560	Mitral atresia
6597	SMARCA4	HP:0009237	Short 5th finger
6597	SMARCA4	HP:0000998	Hypertrichosis
6597	SMARCA4	HP:0000280	Coarse facial features
6597	SMARCA4	HP:0000294	Low anterior hairline
6597	SMARCA4	HP:0000289	Broad philtrum
6597	SMARCA4	HP:0030084	Clinodactyly
6597	SMARCA4	HP:0000252	Microcephaly
6597	SMARCA4	HP:0002884	Hepatoblastoma
6597	SMARCA4	HP:0000219	Thin upper lip vermilion
6597	SMARCA4	HP:0002895	Papillary thyroid carcinoma
6597	SMARCA4	HP:0001511	Intrauterine growth retardation
6597	SMARCA4	HP:0001510	Growth delay
6597	SMARCA4	HP:0000365	Hearing impairment
6597	SMARCA4	HP:0000343	Long philtrum
6597	SMARCA4	HP:0001643	Patent ductus arteriosus
6597	SMARCA4	HP:0001642	Pulmonic stenosis
6597	SMARCA4	HP:0000322	Short philtrum
6597	SMARCA4	HP:0001629	Ventricular septal defect
6597	SMARCA4	HP:0001627	Abnormal heart morphology
6597	SMARCA4	HP:0001636	Tetralogy of Fallot
6597	SMARCA4	HP:0001631	Atrial septal defect
6597	SMARCA4	HP:0005280	Depressed nasal bridge
6597	SMARCA4	HP:0000486	Strabismus
6597	SMARCA4	HP:0001792	Small nail
6597	SMARCA4	HP:0000463	Anteverted nares
6597	SMARCA4	HP:0000455	Broad nasal tip
6597	SMARCA4	HP:0000446	Narrow nasal bridge
6597	SMARCA4	HP:0000445	Wide nose
6597	SMARCA4	HP:0000431	Wide nasal bridge
6597	SMARCA4	HP:0000527	Long eyelashes
6597	SMARCA4	HP:0000508	Ptosis
6597	SMARCA4	HP:0000505	Visual impairment
6597	SMARCA4	HP:0011231	Prominent eyelashes
6597	SMARCA4	HP:0000574	Thick eyebrow
6597	SMARCA4	HP:0012523	Oral aversion
6597	SMARCA4	HP:0000545	Myopia
6598	SMARCB1	HP:0025195	Central diaphragmatic hernia
6598	SMARCB1	HP:0009928	Thick nasal alae
6598	SMARCB1	HP:0010864	Intellectual disability, severe
6598	SMARCB1	HP:0009879	Simplified gyral pattern
6598	SMARCB1	HP:0001274	Agenesis of corpus callosum
6598	SMARCB1	HP:0001273	Abnormal corpus callosum morphology
6598	SMARCB1	HP:0001269	Hemiparesis
6598	SMARCB1	HP:0100836	Malignant neoplasm of the central nervous system
6598	SMARCB1	HP:0001279	Syncope
6598	SMARCB1	HP:0001250	Seizure
6598	SMARCB1	HP:0001252	Hypotonia
6598	SMARCB1	HP:0001251	Ataxia
6598	SMARCB1	HP:0001249	Intellectual disability
6598	SMARCB1	HP:0001263	Global developmental delay
6598	SMARCB1	HP:0001262	Excessive daytime somnolence
6598	SMARCB1	HP:0010997	Chromosomal breakage induced by ionizing radiation
6598	SMARCB1	HP:0007359	Focal-onset seizure
6598	SMARCB1	HP:0007340	Lower limb muscle weakness
6598	SMARCB1	HP:0002516	Increased intracranial pressure
6598	SMARCB1	HP:0002514	Cerebral calcification
6598	SMARCB1	HP:0002512	Brain stem compression
6598	SMARCB1	HP:0003829	Typified by incomplete penetrance
6598	SMARCB1	HP:0000085	Horseshoe kidney
6598	SMARCB1	HP:0000044	Hypogonadotropic hypogonadism
6598	SMARCB1	HP:0001376	Limitation of joint mobility
6598	SMARCB1	HP:0001388	Joint laxity
6598	SMARCB1	HP:0000047	Hypospadias
6598	SMARCB1	HP:0000023	Inguinal hernia
6598	SMARCB1	HP:0000020	Urinary incontinence
6598	SMARCB1	HP:0000028	Cryptorchidism
6598	SMARCB1	HP:0008897	Postnatal growth retardation
6598	SMARCB1	HP:0001324	Muscle weakness
6598	SMARCB1	HP:0001342	Cerebral hemorrhage
6598	SMARCB1	HP:0001344	Absent speech
6598	SMARCB1	HP:0000006	Autosomal dominant inheritance
6598	SMARCB1	HP:0001305	Dandy-Walker malformation
6598	SMARCB1	HP:0002650	Scoliosis
6598	SMARCB1	HP:0001321	Cerebellar hypoplasia
6598	SMARCB1	HP:0001317	Abnormal cerebellum morphology
6598	SMARCB1	HP:0000179	Thick lower lip vermilion
6598	SMARCB1	HP:0000158	Macroglossia
6598	SMARCB1	HP:0000175	Cleft palate
6598	SMARCB1	HP:0000141	Amenorrhea
6598	SMARCB1	HP:0000154	Wide mouth
6598	SMARCB1	HP:0008947	Infantile muscular hypotonia
6598	SMARCB1	HP:0000119	Abnormality of the genitourinary system
6598	SMARCB1	HP:0002788	Recurrent upper respiratory tract infections
6598	SMARCB1	HP:0001428	Somatic mutation
6598	SMARCB1	HP:0002750	Delayed skeletal maturation
6598	SMARCB1	HP:0002719	Recurrent infections
6598	SMARCB1	HP:0002017	Nausea and vomiting
6598	SMARCB1	HP:0002033	Poor suck
6598	SMARCB1	HP:0100543	Cognitive impairment
6598	SMARCB1	HP:0002076	Migraine
6598	SMARCB1	HP:0011752	Neoplasm of the posterior pituitary
6598	SMARCB1	HP:0011750	Neoplasm of the anterior pituitary
6598	SMARCB1	HP:0011730	Abnormal central sensory function
6598	SMARCB1	HP:0008163	Decreased circulating cortisol level
6598	SMARCB1	HP:0003484	Upper limb muscle weakness
6598	SMARCB1	HP:0003418	Back pain
6598	SMARCB1	HP:0011937	Hypoplastic fifth toenail
6598	SMARCB1	HP:0002167	Abnormality of speech or vocalization
6598	SMARCB1	HP:0009588	Vestibular schwannoma
6598	SMARCB1	HP:0008240	Secondary growth hormone deficiency
6598	SMARCB1	HP:0008245	Pituitary hypothyroidism
6598	SMARCB1	HP:0008237	Hypothalamic hypothyroidism
6598	SMARCB1	HP:0010534	Transient global amnesia
6598	SMARCB1	HP:0008214	Decreased serum estradiol
6598	SMARCB1	HP:0008202	Reduced circulating prolactin concentration
6598	SMARCB1	HP:0009593	Peripheral schwannoma
6598	SMARCB1	HP:0003581	Adult onset
6598	SMARCB1	HP:0002209	Sparse scalp hair
6598	SMARCB1	HP:0100790	Hernia
6598	SMARCB1	HP:0011968	Feeding difficulties
6598	SMARCB1	HP:0010628	Facial palsy
6598	SMARCB1	HP:0011951	Aspiration pneumonia
6598	SMARCB1	HP:0008398	Hypoplastic fifth fingernail
6598	SMARCB1	HP:0001067	Neurofibromas
6598	SMARCB1	HP:0002342	Intellectual disability, moderate
6598	SMARCB1	HP:0001007	Hirsutism
6598	SMARCB1	HP:0002355	Difficulty walking
6598	SMARCB1	HP:0002354	Memory impairment
6598	SMARCB1	HP:0002315	Headache
6598	SMARCB1	HP:0100648	Neoplasm of the tongue
6598	SMARCB1	HP:0100661	Trigeminal neuralgia
6598	SMARCB1	HP:0010828	Hemifacial spasm
6598	SMARCB1	HP:0001085	Papilledema
6598	SMARCB1	HP:0030521	Bitemporal hemianopia
6598	SMARCB1	HP:0006824	Cranial nerve paralysis
6598	SMARCB1	HP:0030532	Visual acuity test abnormality
6598	SMARCB1	HP:0004227	Short distal phalanx of the 5th finger
6598	SMARCB1	HP:0000618	Blindness
6598	SMARCB1	HP:0000602	Ophthalmoplegia
6598	SMARCB1	HP:0012691	Focal T2 hypointense thalamic lesion
6598	SMARCB1	HP:0000696	Delayed eruption of permanent teeth
6598	SMARCB1	HP:0000684	Delayed eruption of teeth
6598	SMARCB1	HP:0012658	Abnormal brain FDG positron emission tomography
6598	SMARCB1	HP:0001999	Abnormal facial shape
6598	SMARCB1	HP:0004322	Short stature
6598	SMARCB1	HP:0004302	Functional motor deficit
6598	SMARCB1	HP:0030680	Abnormality of cardiovascular system morphology
6598	SMARCB1	HP:0000802	Impotence
6598	SMARCB1	HP:0004374	Hemiplegia/hemiparesis
6598	SMARCB1	HP:0004372	Reduced consciousness/confusion
6598	SMARCB1	HP:0100010	Spinal meningioma
6598	SMARCB1	HP:0100009	Intracranial meningioma
6598	SMARCB1	HP:0000752	Hyperactivity
6598	SMARCB1	HP:0100021	Cerebral palsy
6598	SMARCB1	HP:0000737	Irritability
6598	SMARCB1	HP:0000741	Apathy
6598	SMARCB1	HP:0000718	Aggressive behavior
6598	SMARCB1	HP:0000712	Emotional lability
6598	SMARCB1	HP:0000729	Autistic behavior
6598	SMARCB1	HP:0000708	Atypical behavior
6598	SMARCB1	HP:0030591	Abnormal kinetic perimetry test
6598	SMARCB1	HP:0011442	Abnormal central motor function
6598	SMARCB1	HP:0030766	Ear pain
6598	SMARCB1	HP:0004408	Abnormality of the sense of smell
6598	SMARCB1	HP:0003196	Short nose
6598	SMARCB1	HP:0000870	Increased circulating prolactin concentration
6598	SMARCB1	HP:0012810	Wide nasal base
6598	SMARCB1	HP:0009237	Short 5th finger
6598	SMARCB1	HP:0030878	Abnormality on pulmonary function testing
6598	SMARCB1	HP:0045026	Abnormal mediastinum morphology
6598	SMARCB1	HP:0000998	Hypertrichosis
6598	SMARCB1	HP:0010302	Spinal cord tumor
6598	SMARCB1	HP:0040171	Decreased serum testosterone concentration
6598	SMARCB1	HP:0008069	Neoplasm of the skin
6598	SMARCB1	HP:0007715	Weak extraocular muscles
6598	SMARCB1	HP:0012285	Abnormal hypothalamus physiology
6598	SMARCB1	HP:0000280	Coarse facial features
6598	SMARCB1	HP:0000294	Low anterior hairline
6598	SMARCB1	HP:0000289	Broad philtrum
6598	SMARCB1	HP:0012246	Oculomotor nerve palsy
6598	SMARCB1	HP:0000256	Macrocephaly
6598	SMARCB1	HP:0030084	Clinodactyly
6598	SMARCB1	HP:0000238	Hydrocephalus
6598	SMARCB1	HP:0000252	Microcephaly
6598	SMARCB1	HP:0002884	Hepatoblastoma
6598	SMARCB1	HP:0000219	Thin upper lip vermilion
6598	SMARCB1	HP:0000218	High palate
6598	SMARCB1	HP:0002895	Papillary thyroid carcinoma
6598	SMARCB1	HP:0002885	Medulloblastoma
6598	SMARCB1	HP:0002858	Meningioma
6598	SMARCB1	HP:0001537	Umbilical hernia
6598	SMARCB1	HP:0001511	Intrauterine growth retardation
6598	SMARCB1	HP:0001510	Growth delay
6598	SMARCB1	HP:0001513	Obesity
6598	SMARCB1	HP:0006520	Progressive pulmonary function impairment
6598	SMARCB1	HP:0002920	Decreased circulating ACTH level
6598	SMARCB1	HP:0000365	Hearing impairment
6598	SMARCB1	HP:0000360	Tinnitus
6598	SMARCB1	HP:0000343	Long philtrum
6598	SMARCB1	HP:0001643	Patent ductus arteriosus
6598	SMARCB1	HP:0001629	Ventricular septal defect
6598	SMARCB1	HP:0001627	Abnormal heart morphology
6598	SMARCB1	HP:0001636	Tetralogy of Fallot
6598	SMARCB1	HP:0001631	Atrial septal defect
6598	SMARCB1	HP:0007924	Slow decrease in visual acuity
6598	SMARCB1	HP:0005280	Depressed nasal bridge
6598	SMARCB1	HP:0000486	Strabismus
6598	SMARCB1	HP:0012471	Thick vermilion border
6598	SMARCB1	HP:0011133	Increased sensitivity to ionizing radiation
6598	SMARCB1	HP:0001792	Small nail
6598	SMARCB1	HP:0000463	Anteverted nares
6598	SMARCB1	HP:0000455	Broad nasal tip
6598	SMARCB1	HP:0000445	Wide nose
6598	SMARCB1	HP:0012505	Enlarged pituitary gland
6598	SMARCB1	HP:0000527	Long eyelashes
6598	SMARCB1	HP:0000520	Proptosis
6598	SMARCB1	HP:0000508	Ptosis
6598	SMARCB1	HP:0000505	Visual impairment
6598	SMARCB1	HP:0030344	Decreased circulating luteinizing hormone level
6598	SMARCB1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
6598	SMARCB1	HP:0011231	Prominent eyelashes
6598	SMARCB1	HP:0000574	Thick eyebrow
6598	SMARCB1	HP:0030392	Choroid plexus carcinoma
6598	SMARCB1	HP:0012523	Oral aversion
6598	SMARCB1	HP:0000545	Myopia
6601	SMARCC2	HP:0009928	Thick nasal alae
6601	SMARCC2	HP:0010864	Intellectual disability, severe
6601	SMARCC2	HP:0009879	Simplified gyral pattern
6601	SMARCC2	HP:0001274	Agenesis of corpus callosum
6601	SMARCC2	HP:0001250	Seizure
6601	SMARCC2	HP:0001252	Hypotonia
6601	SMARCC2	HP:0001249	Intellectual disability
6601	SMARCC2	HP:0001263	Global developmental delay
6601	SMARCC2	HP:0000085	Horseshoe kidney
6601	SMARCC2	HP:0001388	Joint laxity
6601	SMARCC2	HP:0000047	Hypospadias
6601	SMARCC2	HP:0000023	Inguinal hernia
6601	SMARCC2	HP:0000028	Cryptorchidism
6601	SMARCC2	HP:0008897	Postnatal growth retardation
6601	SMARCC2	HP:0033725	Thin corpus callosum
6601	SMARCC2	HP:0001344	Absent speech
6601	SMARCC2	HP:0000006	Autosomal dominant inheritance
6601	SMARCC2	HP:0001305	Dandy-Walker malformation
6601	SMARCC2	HP:0002650	Scoliosis
6601	SMARCC2	HP:0000179	Thick lower lip vermilion
6601	SMARCC2	HP:0000154	Wide mouth
6601	SMARCC2	HP:0008947	Infantile muscular hypotonia
6601	SMARCC2	HP:0000119	Abnormality of the genitourinary system
6601	SMARCC2	HP:0002788	Recurrent upper respiratory tract infections
6601	SMARCC2	HP:0002750	Delayed skeletal maturation
6601	SMARCC2	HP:0002719	Recurrent infections
6601	SMARCC2	HP:0002033	Poor suck
6601	SMARCC2	HP:0002059	Cerebral atrophy
6601	SMARCC2	HP:0011937	Hypoplastic fifth toenail
6601	SMARCC2	HP:0003593	Infantile onset
6601	SMARCC2	HP:0100716	Self-injurious behavior
6601	SMARCC2	HP:0002209	Sparse scalp hair
6601	SMARCC2	HP:0100790	Hernia
6601	SMARCC2	HP:0011968	Feeding difficulties
6601	SMARCC2	HP:0011951	Aspiration pneumonia
6601	SMARCC2	HP:0008398	Hypoplastic fifth fingernail
6601	SMARCC2	HP:0002360	Sleep disturbance
6601	SMARCC2	HP:0002342	Intellectual disability, moderate
6601	SMARCC2	HP:0001007	Hirsutism
6601	SMARCC2	HP:0000684	Delayed eruption of teeth
6601	SMARCC2	HP:0001999	Abnormal facial shape
6601	SMARCC2	HP:0000752	Hyperactivity
6601	SMARCC2	HP:0000750	Delayed speech and language development
6601	SMARCC2	HP:0000718	Aggressive behavior
6601	SMARCC2	HP:0000729	Autistic behavior
6601	SMARCC2	HP:0000708	Atypical behavior
6601	SMARCC2	HP:0003196	Short nose
6601	SMARCC2	HP:0012810	Wide nasal base
6601	SMARCC2	HP:0009237	Short 5th finger
6601	SMARCC2	HP:0000998	Hypertrichosis
6601	SMARCC2	HP:0000964	Eczema
6601	SMARCC2	HP:0000280	Coarse facial features
6601	SMARCC2	HP:0000294	Low anterior hairline
6601	SMARCC2	HP:0000289	Broad philtrum
6601	SMARCC2	HP:0030084	Clinodactyly
6601	SMARCC2	HP:0000252	Microcephaly
6601	SMARCC2	HP:0002884	Hepatoblastoma
6601	SMARCC2	HP:0000219	Thin upper lip vermilion
6601	SMARCC2	HP:0002895	Papillary thyroid carcinoma
6601	SMARCC2	HP:0001508	Failure to thrive
6601	SMARCC2	HP:0001511	Intrauterine growth retardation
6601	SMARCC2	HP:0001510	Growth delay
6601	SMARCC2	HP:0000365	Hearing impairment
6601	SMARCC2	HP:0001643	Patent ductus arteriosus
6601	SMARCC2	HP:0001629	Ventricular septal defect
6601	SMARCC2	HP:0001627	Abnormal heart morphology
6601	SMARCC2	HP:0001636	Tetralogy of Fallot
6601	SMARCC2	HP:0001631	Atrial septal defect
6601	SMARCC2	HP:0005280	Depressed nasal bridge
6601	SMARCC2	HP:0000486	Strabismus
6601	SMARCC2	HP:0001792	Small nail
6601	SMARCC2	HP:0000463	Anteverted nares
6601	SMARCC2	HP:0000455	Broad nasal tip
6601	SMARCC2	HP:0000527	Long eyelashes
6601	SMARCC2	HP:0000508	Ptosis
6601	SMARCC2	HP:0000505	Visual impairment
6601	SMARCC2	HP:0011231	Prominent eyelashes
6601	SMARCC2	HP:0000574	Thick eyebrow
6601	SMARCC2	HP:0012523	Oral aversion
6601	SMARCC2	HP:0000545	Myopia
6602	SMARCD1	HP:0009928	Thick nasal alae
6602	SMARCD1	HP:0009909	Uplifted earlobe
6602	SMARCD1	HP:0010864	Intellectual disability, severe
6602	SMARCD1	HP:0009879	Simplified gyral pattern
6602	SMARCD1	HP:0001274	Agenesis of corpus callosum
6602	SMARCD1	HP:0001250	Seizure
6602	SMARCD1	HP:0001252	Hypotonia
6602	SMARCD1	HP:0001249	Intellectual disability
6602	SMARCD1	HP:0001263	Global developmental delay
6602	SMARCD1	HP:0000085	Horseshoe kidney
6602	SMARCD1	HP:0001388	Joint laxity
6602	SMARCD1	HP:0000047	Hypospadias
6602	SMARCD1	HP:0000028	Cryptorchidism
6602	SMARCD1	HP:0008897	Postnatal growth retardation
6602	SMARCD1	HP:0008872	Feeding difficulties in infancy
6602	SMARCD1	HP:0001344	Absent speech
6602	SMARCD1	HP:0000006	Autosomal dominant inheritance
6602	SMARCD1	HP:0001305	Dandy-Walker malformation
6602	SMARCD1	HP:0002650	Scoliosis
6602	SMARCD1	HP:0000185	Cleft soft palate
6602	SMARCD1	HP:0000179	Thick lower lip vermilion
6602	SMARCD1	HP:0000193	Bifid uvula
6602	SMARCD1	HP:0000154	Wide mouth
6602	SMARCD1	HP:0008947	Infantile muscular hypotonia
6602	SMARCD1	HP:0000119	Abnormality of the genitourinary system
6602	SMARCD1	HP:0002788	Recurrent upper respiratory tract infections
6602	SMARCD1	HP:0002750	Delayed skeletal maturation
6602	SMARCD1	HP:0002719	Recurrent infections
6602	SMARCD1	HP:0002714	Downturned corners of mouth
6602	SMARCD1	HP:0002032	Esophageal atresia
6602	SMARCD1	HP:0002007	Frontal bossing
6602	SMARCD1	HP:0011937	Hypoplastic fifth toenail
6602	SMARCD1	HP:0002162	Low posterior hairline
6602	SMARCD1	HP:0002209	Sparse scalp hair
6602	SMARCD1	HP:0100790	Hernia
6602	SMARCD1	HP:0011968	Feeding difficulties
6602	SMARCD1	HP:0011951	Aspiration pneumonia
6602	SMARCD1	HP:0008398	Hypoplastic fifth fingernail
6602	SMARCD1	HP:0002342	Intellectual disability, moderate
6602	SMARCD1	HP:0001007	Hirsutism
6602	SMARCD1	HP:0200055	Small hand
6602	SMARCD1	HP:0000684	Delayed eruption of teeth
6602	SMARCD1	HP:0001999	Abnormal facial shape
6602	SMARCD1	HP:0031936	Delayed ability to walk
6602	SMARCD1	HP:0000752	Hyperactivity
6602	SMARCD1	HP:0000750	Delayed speech and language development
6602	SMARCD1	HP:0000718	Aggressive behavior
6602	SMARCD1	HP:0000729	Autistic behavior
6602	SMARCD1	HP:0000708	Atypical behavior
6602	SMARCD1	HP:0003196	Short nose
6602	SMARCD1	HP:0012810	Wide nasal base
6602	SMARCD1	HP:0009237	Short 5th finger
6602	SMARCD1	HP:0000998	Hypertrichosis
6602	SMARCD1	HP:0000280	Coarse facial features
6602	SMARCD1	HP:0000294	Low anterior hairline
6602	SMARCD1	HP:0000289	Broad philtrum
6602	SMARCD1	HP:0030084	Clinodactyly
6602	SMARCD1	HP:0000252	Microcephaly
6602	SMARCD1	HP:0002884	Hepatoblastoma
6602	SMARCD1	HP:0000219	Thin upper lip vermilion
6602	SMARCD1	HP:0000218	High palate
6602	SMARCD1	HP:0002895	Papillary thyroid carcinoma
6602	SMARCD1	HP:0001511	Intrauterine growth retardation
6602	SMARCD1	HP:0001510	Growth delay
6602	SMARCD1	HP:0000365	Hearing impairment
6602	SMARCD1	HP:0000341	Narrow forehead
6602	SMARCD1	HP:0000316	Hypertelorism
6602	SMARCD1	HP:0001643	Patent ductus arteriosus
6602	SMARCD1	HP:0001629	Ventricular septal defect
6602	SMARCD1	HP:0001627	Abnormal heart morphology
6602	SMARCD1	HP:0001636	Tetralogy of Fallot
6602	SMARCD1	HP:0001631	Atrial septal defect
6602	SMARCD1	HP:0005280	Depressed nasal bridge
6602	SMARCD1	HP:0000486	Strabismus
6602	SMARCD1	HP:0001792	Small nail
6602	SMARCD1	HP:0000463	Anteverted nares
6602	SMARCD1	HP:0000455	Broad nasal tip
6602	SMARCD1	HP:0000414	Bulbous nose
6602	SMARCD1	HP:0005487	Prominent metopic ridge
6602	SMARCD1	HP:0000508	Ptosis
6602	SMARCD1	HP:0000505	Visual impairment
6602	SMARCD1	HP:0011231	Prominent eyelashes
6602	SMARCD1	HP:0000574	Thick eyebrow
6602	SMARCD1	HP:0012523	Oral aversion
6602	SMARCD1	HP:0000545	Myopia
6603	SMARCD2	HP:0001156	Brachydactyly
6603	SMARCD2	HP:0020206	Simple ear
6603	SMARCD2	HP:0100806	Sepsis
6603	SMARCD2	HP:0001263	Global developmental delay
6603	SMARCD2	HP:0033606	Bone marrow maturation arrest
6603	SMARCD2	HP:0003819	Death in childhood
6603	SMARCD2	HP:0000007	Autosomal recessive inheritance
6603	SMARCD2	HP:0032434	Delayed umbilical cord separation
6603	SMARCD2	HP:0032435	Neonatal omphalitis
6603	SMARCD2	HP:0002718	Recurrent bacterial infections
6603	SMARCD2	HP:0002041	Intractable diarrhea
6603	SMARCD2	HP:0002164	Nail dysplasia
6603	SMARCD2	HP:0003577	Congenital onset
6603	SMARCD2	HP:0001007	Hirsutism
6603	SMARCD2	HP:0001903	Anemia
6603	SMARCD2	HP:0000698	Conical tooth
6603	SMARCD2	HP:0000692	Tooth malposition
6603	SMARCD2	HP:0000705	Amelogenesis imperfecta
6603	SMARCD2	HP:0000974	Hyperextensible skin
6603	SMARCD2	HP:0000956	Acanthosis nigricans
6603	SMARCD2	HP:0000938	Osteopenia
6603	SMARCD2	HP:0001522	Death in infancy
6603	SMARCD2	HP:0002863	Myelodysplasia
6603	SMARCD2	HP:0001508	Failure to thrive
6603	SMARCD2	HP:0000377	Abnormal pinna morphology
6603	SMARCD2	HP:0006532	Recurrent pneumonia
6603	SMARCD2	HP:0000358	Posteriorly rotated ears
6603	SMARCD2	HP:0000369	Low-set ears
6603	SMARCD2	HP:0000403	Recurrent otitis media
6603	SMARCD2	HP:0001852	Sandal gap
6603	SMARCD2	HP:0001808	Fragile nails
6603	SMARCD2	HP:0012551	Absent neutrophil specific granules
6603	SMARCD2	HP:0001873	Thrombocytopenia
6603	SMARCD2	HP:0001875	Neutropenia
6605	SMARCE1	HP:0001166	Arachnodactyly
6605	SMARCE1	HP:0009928	Thick nasal alae
6605	SMARCE1	HP:0010864	Intellectual disability, severe
6605	SMARCE1	HP:0009882	Short distal phalanx of finger
6605	SMARCE1	HP:0009879	Simplified gyral pattern
6605	SMARCE1	HP:0001274	Agenesis of corpus callosum
6605	SMARCE1	HP:0001269	Hemiparesis
6605	SMARCE1	HP:0001279	Syncope
6605	SMARCE1	HP:0001250	Seizure
6605	SMARCE1	HP:0001251	Ataxia
6605	SMARCE1	HP:0001249	Intellectual disability
6605	SMARCE1	HP:0001263	Global developmental delay
6605	SMARCE1	HP:0001262	Excessive daytime somnolence
6605	SMARCE1	HP:0010997	Chromosomal breakage induced by ionizing radiation
6605	SMARCE1	HP:0007359	Focal-onset seizure
6605	SMARCE1	HP:0007340	Lower limb muscle weakness
6605	SMARCE1	HP:0002516	Increased intracranial pressure
6605	SMARCE1	HP:0002512	Brain stem compression
6605	SMARCE1	HP:0003829	Typified by incomplete penetrance
6605	SMARCE1	HP:0000085	Horseshoe kidney
6605	SMARCE1	HP:0000044	Hypogonadotropic hypogonadism
6605	SMARCE1	HP:0001388	Joint laxity
6605	SMARCE1	HP:0000047	Hypospadias
6605	SMARCE1	HP:0000020	Urinary incontinence
6605	SMARCE1	HP:0000028	Cryptorchidism
6605	SMARCE1	HP:0008897	Postnatal growth retardation
6605	SMARCE1	HP:0001342	Cerebral hemorrhage
6605	SMARCE1	HP:0001344	Absent speech
6605	SMARCE1	HP:0000006	Autosomal dominant inheritance
6605	SMARCE1	HP:0001305	Dandy-Walker malformation
6605	SMARCE1	HP:0002650	Scoliosis
6605	SMARCE1	HP:0001321	Cerebellar hypoplasia
6605	SMARCE1	HP:0001317	Abnormal cerebellum morphology
6605	SMARCE1	HP:0000179	Thick lower lip vermilion
6605	SMARCE1	HP:0000141	Amenorrhea
6605	SMARCE1	HP:0000154	Wide mouth
6605	SMARCE1	HP:0008947	Infantile muscular hypotonia
6605	SMARCE1	HP:0000119	Abnormality of the genitourinary system
6605	SMARCE1	HP:0002788	Recurrent upper respiratory tract infections
6605	SMARCE1	HP:0002750	Delayed skeletal maturation
6605	SMARCE1	HP:0002719	Recurrent infections
6605	SMARCE1	HP:0002017	Nausea and vomiting
6605	SMARCE1	HP:0100543	Cognitive impairment
6605	SMARCE1	HP:0002079	Hypoplasia of the corpus callosum
6605	SMARCE1	HP:0011752	Neoplasm of the posterior pituitary
6605	SMARCE1	HP:0011750	Neoplasm of the anterior pituitary
6605	SMARCE1	HP:0011730	Abnormal central sensory function
6605	SMARCE1	HP:0008163	Decreased circulating cortisol level
6605	SMARCE1	HP:0003484	Upper limb muscle weakness
6605	SMARCE1	HP:0003418	Back pain
6605	SMARCE1	HP:0011937	Hypoplastic fifth toenail
6605	SMARCE1	HP:0002167	Abnormality of speech or vocalization
6605	SMARCE1	HP:0008240	Secondary growth hormone deficiency
6605	SMARCE1	HP:0008245	Pituitary hypothyroidism
6605	SMARCE1	HP:0008237	Hypothalamic hypothyroidism
6605	SMARCE1	HP:0010534	Transient global amnesia
6605	SMARCE1	HP:0008214	Decreased serum estradiol
6605	SMARCE1	HP:0008202	Reduced circulating prolactin concentration
6605	SMARCE1	HP:0003581	Adult onset
6605	SMARCE1	HP:0002209	Sparse scalp hair
6605	SMARCE1	HP:0100790	Hernia
6605	SMARCE1	HP:0011968	Feeding difficulties
6605	SMARCE1	HP:0010628	Facial palsy
6605	SMARCE1	HP:0011951	Aspiration pneumonia
6605	SMARCE1	HP:0008398	Hypoplastic fifth fingernail
6605	SMARCE1	HP:0001067	Neurofibromas
6605	SMARCE1	HP:0002342	Intellectual disability, moderate
6605	SMARCE1	HP:0001007	Hirsutism
6605	SMARCE1	HP:0002355	Difficulty walking
6605	SMARCE1	HP:0002354	Memory impairment
6605	SMARCE1	HP:0002315	Headache
6605	SMARCE1	HP:0100648	Neoplasm of the tongue
6605	SMARCE1	HP:0100661	Trigeminal neuralgia
6605	SMARCE1	HP:0010828	Hemifacial spasm
6605	SMARCE1	HP:0001085	Papilledema
6605	SMARCE1	HP:0030521	Bitemporal hemianopia
6605	SMARCE1	HP:0006824	Cranial nerve paralysis
6605	SMARCE1	HP:0030532	Visual acuity test abnormality
6605	SMARCE1	HP:0000618	Blindness
6605	SMARCE1	HP:0000602	Ophthalmoplegia
6605	SMARCE1	HP:0012691	Focal T2 hypointense thalamic lesion
6605	SMARCE1	HP:0000684	Delayed eruption of teeth
6605	SMARCE1	HP:0012658	Abnormal brain FDG positron emission tomography
6605	SMARCE1	HP:0001999	Abnormal facial shape
6605	SMARCE1	HP:0004322	Short stature
6605	SMARCE1	HP:0004302	Functional motor deficit
6605	SMARCE1	HP:0000802	Impotence
6605	SMARCE1	HP:0100010	Spinal meningioma
6605	SMARCE1	HP:0100009	Intracranial meningioma
6605	SMARCE1	HP:0000752	Hyperactivity
6605	SMARCE1	HP:0000718	Aggressive behavior
6605	SMARCE1	HP:0000712	Emotional lability
6605	SMARCE1	HP:0000729	Autistic behavior
6605	SMARCE1	HP:0000708	Atypical behavior
6605	SMARCE1	HP:0030591	Abnormal kinetic perimetry test
6605	SMARCE1	HP:0011442	Abnormal central motor function
6605	SMARCE1	HP:0030766	Ear pain
6605	SMARCE1	HP:0004408	Abnormality of the sense of smell
6605	SMARCE1	HP:0003196	Short nose
6605	SMARCE1	HP:0000870	Increased circulating prolactin concentration
6605	SMARCE1	HP:0012810	Wide nasal base
6605	SMARCE1	HP:0009237	Short 5th finger
6605	SMARCE1	HP:0030878	Abnormality on pulmonary function testing
6605	SMARCE1	HP:0045026	Abnormal mediastinum morphology
6605	SMARCE1	HP:0000998	Hypertrichosis
6605	SMARCE1	HP:0040171	Decreased serum testosterone concentration
6605	SMARCE1	HP:0008069	Neoplasm of the skin
6605	SMARCE1	HP:0007715	Weak extraocular muscles
6605	SMARCE1	HP:0012285	Abnormal hypothalamus physiology
6605	SMARCE1	HP:0000280	Coarse facial features
6605	SMARCE1	HP:0000294	Low anterior hairline
6605	SMARCE1	HP:0000289	Broad philtrum
6605	SMARCE1	HP:0012246	Oculomotor nerve palsy
6605	SMARCE1	HP:0030084	Clinodactyly
6605	SMARCE1	HP:0000238	Hydrocephalus
6605	SMARCE1	HP:0000252	Microcephaly
6605	SMARCE1	HP:0002884	Hepatoblastoma
6605	SMARCE1	HP:0000219	Thin upper lip vermilion
6605	SMARCE1	HP:0002895	Papillary thyroid carcinoma
6605	SMARCE1	HP:0002858	Meningioma
6605	SMARCE1	HP:0001511	Intrauterine growth retardation
6605	SMARCE1	HP:0001510	Growth delay
6605	SMARCE1	HP:0001513	Obesity
6605	SMARCE1	HP:0006520	Progressive pulmonary function impairment
6605	SMARCE1	HP:0002920	Decreased circulating ACTH level
6605	SMARCE1	HP:0000365	Hearing impairment
6605	SMARCE1	HP:0000360	Tinnitus
6605	SMARCE1	HP:0001643	Patent ductus arteriosus
6605	SMARCE1	HP:0000322	Short philtrum
6605	SMARCE1	HP:0001629	Ventricular septal defect
6605	SMARCE1	HP:0001627	Abnormal heart morphology
6605	SMARCE1	HP:0001636	Tetralogy of Fallot
6605	SMARCE1	HP:0001631	Atrial septal defect
6605	SMARCE1	HP:0007924	Slow decrease in visual acuity
6605	SMARCE1	HP:0005280	Depressed nasal bridge
6605	SMARCE1	HP:0000486	Strabismus
6605	SMARCE1	HP:0011133	Increased sensitivity to ionizing radiation
6605	SMARCE1	HP:0001792	Small nail
6605	SMARCE1	HP:0000463	Anteverted nares
6605	SMARCE1	HP:0000455	Broad nasal tip
6605	SMARCE1	HP:0000445	Wide nose
6605	SMARCE1	HP:0012505	Enlarged pituitary gland
6605	SMARCE1	HP:0000527	Long eyelashes
6605	SMARCE1	HP:0001852	Sandal gap
6605	SMARCE1	HP:0000520	Proptosis
6605	SMARCE1	HP:0000508	Ptosis
6605	SMARCE1	HP:0000505	Visual impairment
6605	SMARCE1	HP:0001800	Hypoplastic toenails
6605	SMARCE1	HP:0001810	Dystrophic toenail
6605	SMARCE1	HP:0030344	Decreased circulating luteinizing hormone level
6605	SMARCE1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
6605	SMARCE1	HP:0011231	Prominent eyelashes
6605	SMARCE1	HP:0000574	Thick eyebrow
6605	SMARCE1	HP:0012523	Oral aversion
6605	SMARCE1	HP:0000545	Myopia
6606	SMN1	HP:0007289	Limb fasciculations
6606	SMN1	HP:0007269	Spinal muscular atrophy
6606	SMN1	HP:0002421	Poor head control
6606	SMN1	HP:0003749	Pelvic girdle muscle weakness
6606	SMN1	HP:0003724	Shoulder girdle muscle atrophy
6606	SMN1	HP:0003701	Proximal muscle weakness
6606	SMN1	HP:0003713	Muscle fiber necrosis
6606	SMN1	HP:0001290	Generalized hypotonia
6606	SMN1	HP:0001284	Areflexia
6606	SMN1	HP:0001265	Hyporeflexia
6606	SMN1	HP:0007340	Lower limb muscle weakness
6606	SMN1	HP:0002515	Waddling gait
6606	SMN1	HP:0002522	Areflexia of lower limbs
6606	SMN1	HP:0002505	Loss of ambulation
6606	SMN1	HP:0003805	Rimmed vacuoles
6606	SMN1	HP:0003803	Type 1 muscle fiber predominance
6606	SMN1	HP:0003819	Death in childhood
6606	SMN1	HP:0001324	Muscle weakness
6606	SMN1	HP:0000007	Autosomal recessive inheritance
6606	SMN1	HP:0001308	Tongue fasciculations
6606	SMN1	HP:0008994	Proximal muscle weakness in lower limbs
6606	SMN1	HP:0008981	Calf muscle hypertrophy
6606	SMN1	HP:0008946	Pelvic girdle amyotrophy
6606	SMN1	HP:0008956	Proximal lower limb amyotrophy
6606	SMN1	HP:0002093	Respiratory insufficiency
6606	SMN1	HP:0003394	Muscle spasm
6606	SMN1	HP:0003457	EMG abnormality
6606	SMN1	HP:0003444	EMG: chronic denervation signs
6606	SMN1	HP:0003445	EMG: neuropathic changes
6606	SMN1	HP:0003438	Absent Achilles reflex
6606	SMN1	HP:0003593	Infantile onset
6606	SMN1	HP:0003547	Shoulder girdle muscle weakness
6606	SMN1	HP:0003557	Increased variability in muscle fiber diameter
6606	SMN1	HP:0002205	Recurrent respiratory infections
6606	SMN1	HP:0002398	Degeneration of anterior horn cells
6606	SMN1	HP:0003693	Distal amyotrophy
6606	SMN1	HP:0002378	Hand tremor
6606	SMN1	HP:0003676	Progressive
6606	SMN1	HP:0003687	Centrally nucleated skeletal muscle fibers
6606	SMN1	HP:0003677	Slowly progressive
6606	SMN1	HP:0007126	Proximal amyotrophy
6606	SMN1	HP:0003623	Neonatal onset
6606	SMN1	HP:0003621	Juvenile onset
6606	SMN1	HP:0006844	Absent patellar reflexes
6606	SMN1	HP:0034045	Angulated muscle fibers
6606	SMN1	HP:0009050	Quadriceps muscle atrophy
6606	SMN1	HP:0011462	Young adult onset
6606	SMN1	HP:0003202	Skeletal muscle atrophy
6606	SMN1	HP:0002878	Respiratory failure
6606	SMN1	HP:0001558	Decreased fetal movement
6606	SMN1	HP:0001629	Ventricular septal defect
6606	SMN1	HP:0001631	Atrial septal defect
6606	SMN1	HP:0025708	Early young adult onset
6607	SMN2	HP:0007289	Limb fasciculations
6607	SMN2	HP:0007269	Spinal muscular atrophy
6607	SMN2	HP:0003749	Pelvic girdle muscle weakness
6607	SMN2	HP:0003724	Shoulder girdle muscle atrophy
6607	SMN2	HP:0003701	Proximal muscle weakness
6607	SMN2	HP:0001265	Hyporeflexia
6607	SMN2	HP:0007340	Lower limb muscle weakness
6607	SMN2	HP:0002505	Loss of ambulation
6607	SMN2	HP:0000007	Autosomal recessive inheritance
6607	SMN2	HP:0001308	Tongue fasciculations
6607	SMN2	HP:0008946	Pelvic girdle amyotrophy
6607	SMN2	HP:0008956	Proximal lower limb amyotrophy
6607	SMN2	HP:0003394	Muscle spasm
6607	SMN2	HP:0003444	EMG: chronic denervation signs
6607	SMN2	HP:0003438	Absent Achilles reflex
6607	SMN2	HP:0003547	Shoulder girdle muscle weakness
6607	SMN2	HP:0002398	Degeneration of anterior horn cells
6607	SMN2	HP:0003693	Distal amyotrophy
6607	SMN2	HP:0002378	Hand tremor
6607	SMN2	HP:0003676	Progressive
6607	SMN2	HP:0003621	Juvenile onset
6607	SMN2	HP:0006844	Absent patellar reflexes
6607	SMN2	HP:0025708	Early young adult onset
6608	SMO	HP:0001177	Preaxial hand polydactyly
6608	SMO	HP:0001181	Adducted thumb
6608	SMO	HP:0001162	Postaxial hand polydactyly
6608	SMO	HP:0002444	Hypothalamic hamartoma
6608	SMO	HP:0002436	Occipital meningocele
6608	SMO	HP:0009942	Duplication of thumb phalanx
6608	SMO	HP:0009890	High anterior hairline
6608	SMO	HP:0100806	Sepsis
6608	SMO	HP:0001274	Agenesis of corpus callosum
6608	SMO	HP:0001269	Hemiparesis
6608	SMO	HP:0001279	Syncope
6608	SMO	HP:0001250	Seizure
6608	SMO	HP:0001251	Ataxia
6608	SMO	HP:0001249	Intellectual disability
6608	SMO	HP:0001263	Global developmental delay
6608	SMO	HP:0001262	Excessive daytime somnolence
6608	SMO	HP:0001233	2-3 finger syndactyly
6608	SMO	HP:0002566	Intestinal malrotation
6608	SMO	HP:0006101	Finger syndactyly
6608	SMO	HP:0010997	Chromosomal breakage induced by ionizing radiation
6608	SMO	HP:0007359	Focal-onset seizure
6608	SMO	HP:0007340	Lower limb muscle weakness
6608	SMO	HP:0002516	Increased intracranial pressure
6608	SMO	HP:0002512	Brain stem compression
6608	SMO	HP:0000044	Hypogonadotropic hypogonadism
6608	SMO	HP:0000054	Micropenis
6608	SMO	HP:0001355	Megalencephaly
6608	SMO	HP:0000020	Urinary incontinence
6608	SMO	HP:0001363	Craniosynostosis
6608	SMO	HP:0001342	Cerebral hemorrhage
6608	SMO	HP:0002671	Basal cell carcinoma
6608	SMO	HP:0000007	Autosomal recessive inheritance
6608	SMO	HP:0002652	Skeletal dysplasia
6608	SMO	HP:0001317	Abnormal cerebellum morphology
6608	SMO	HP:0002645	Wormian bones
6608	SMO	HP:0025480	Lipomyelomeningocele
6608	SMO	HP:0000161	Median cleft lip
6608	SMO	HP:0000175	Cleft palate
6608	SMO	HP:0000171	Microglossia
6608	SMO	HP:0000141	Amenorrhea
6608	SMO	HP:0032612	Triphalangeal hallux
6608	SMO	HP:0000110	Renal dysplasia
6608	SMO	HP:0001442	Somatic mosaicism
6608	SMO	HP:0002025	Anal stenosis
6608	SMO	HP:0002019	Constipation
6608	SMO	HP:0002017	Nausea and vomiting
6608	SMO	HP:0002027	Abdominal pain
6608	SMO	HP:0002014	Diarrhea
6608	SMO	HP:0002089	Pulmonary hypoplasia
6608	SMO	HP:0002085	Occipital encephalocele
6608	SMO	HP:0100543	Cognitive impairment
6608	SMO	HP:0011752	Neoplasm of the posterior pituitary
6608	SMO	HP:0011750	Neoplasm of the anterior pituitary
6608	SMO	HP:0011730	Abnormal central sensory function
6608	SMO	HP:0008163	Decreased circulating cortisol level
6608	SMO	HP:0003484	Upper limb muscle weakness
6608	SMO	HP:0002119	Ventriculomegaly
6608	SMO	HP:0002126	Polymicrogyria
6608	SMO	HP:0003418	Back pain
6608	SMO	HP:0009602	Abnormality of thumb phalanx
6608	SMO	HP:0002167	Abnormality of speech or vocalization
6608	SMO	HP:0008240	Secondary growth hormone deficiency
6608	SMO	HP:0008245	Pituitary hypothyroidism
6608	SMO	HP:0008237	Hypothalamic hypothyroidism
6608	SMO	HP:0010534	Transient global amnesia
6608	SMO	HP:0008214	Decreased serum estradiol
6608	SMO	HP:0008202	Reduced circulating prolactin concentration
6608	SMO	HP:0003577	Congenital onset
6608	SMO	HP:0002251	Aganglionic megacolon
6608	SMO	HP:0002230	Generalized hirsutism
6608	SMO	HP:0009733	Glioma
6608	SMO	HP:0010628	Facial palsy
6608	SMO	HP:0007099	Chiari type I malformation
6608	SMO	HP:0001053	Hypopigmented skin patches
6608	SMO	HP:0001067	Neurofibromas
6608	SMO	HP:0001007	Hirsutism
6608	SMO	HP:0002355	Difficulty walking
6608	SMO	HP:0002354	Memory impairment
6608	SMO	HP:0002315	Headache
6608	SMO	HP:0100648	Neoplasm of the tongue
6608	SMO	HP:0007206	Hemimegalencephaly
6608	SMO	HP:0100661	Trigeminal neuralgia
6608	SMO	HP:0010828	Hemifacial spasm
6608	SMO	HP:0010820	Focal emotional seizure with crying
6608	SMO	HP:0010815	Nevus sebaceous
6608	SMO	HP:0200008	Intestinal polyposis
6608	SMO	HP:0001085	Papilledema
6608	SMO	HP:0009779	3-4 toe syndactyly
6608	SMO	HP:0030521	Bitemporal hemianopia
6608	SMO	HP:0006824	Cranial nerve paralysis
6608	SMO	HP:0030532	Visual acuity test abnormality
6608	SMO	HP:0000646	Amblyopia
6608	SMO	HP:0000618	Blindness
6608	SMO	HP:0000612	Iris coloboma
6608	SMO	HP:0000602	Ophthalmoplegia
6608	SMO	HP:0012691	Focal T2 hypointense thalamic lesion
6608	SMO	HP:0012658	Abnormal brain FDG positron emission tomography
6608	SMO	HP:0011318	Bicoronal synostosis
6608	SMO	HP:0011315	Unicoronal synostosis
6608	SMO	HP:0011304	Broad thumb
6608	SMO	HP:0004322	Short stature
6608	SMO	HP:0004302	Functional motor deficit
6608	SMO	HP:0030680	Abnormality of cardiovascular system morphology
6608	SMO	HP:0000802	Impotence
6608	SMO	HP:0004389	Intestinal pseudo-obstruction
6608	SMO	HP:0100010	Spinal meningioma
6608	SMO	HP:0100009	Intracranial meningioma
6608	SMO	HP:0100031	Neoplasm of the thyroid gland
6608	SMO	HP:0000750	Delayed speech and language development
6608	SMO	HP:0012719	Functional abnormality of the gastrointestinal tract
6608	SMO	HP:0000712	Emotional lability
6608	SMO	HP:0030591	Abnormal kinetic perimetry test
6608	SMO	HP:0011442	Abnormal central motor function
6608	SMO	HP:0000773	Short ribs
6608	SMO	HP:0030766	Ear pain
6608	SMO	HP:0030765	Sleep terror
6608	SMO	HP:0004408	Abnormality of the sense of smell
6608	SMO	HP:0003196	Short nose
6608	SMO	HP:0000870	Increased circulating prolactin concentration
6608	SMO	HP:0000830	Anterior hypopituitarism
6608	SMO	HP:0030878	Abnormality on pulmonary function testing
6608	SMO	HP:0045026	Abnormal mediastinum morphology
6608	SMO	HP:0100267	Lip pit
6608	SMO	HP:0040171	Decreased serum testosterone concentration
6608	SMO	HP:0008065	Aplasia/Hypoplasia of the skin
6608	SMO	HP:0008069	Neoplasm of the skin
6608	SMO	HP:0007715	Weak extraocular muscles
6608	SMO	HP:0012285	Abnormal hypothalamus physiology
6608	SMO	HP:0012246	Oculomotor nerve palsy
6608	SMO	HP:0000256	Macrocephaly
6608	SMO	HP:0002827	Hip dislocation
6608	SMO	HP:0000238	Hydrocephalus
6608	SMO	HP:0000252	Microcephaly
6608	SMO	HP:0001531	Failure to thrive in infancy
6608	SMO	HP:0001522	Death in infancy
6608	SMO	HP:0001513	Obesity
6608	SMO	HP:0005214	Intestinal obstruction
6608	SMO	HP:0006520	Progressive pulmonary function impairment
6608	SMO	HP:0002920	Decreased circulating ACTH level
6608	SMO	HP:0000360	Tinnitus
6608	SMO	HP:0000347	Micrognathia
6608	SMO	HP:0002983	Micromelia
6608	SMO	HP:0000316	Hypertelorism
6608	SMO	HP:0000324	Facial asymmetry
6608	SMO	HP:0007924	Slow decrease in visual acuity
6608	SMO	HP:0000407	Sensorineural hearing impairment
6608	SMO	HP:0005280	Depressed nasal bridge
6608	SMO	HP:0011133	Increased sensitivity to ionizing radiation
6608	SMO	HP:0012450	Chronic constipation
6608	SMO	HP:0001770	Toe syndactyly
6608	SMO	HP:0012505	Enlarged pituitary gland
6608	SMO	HP:0001841	Preaxial foot polydactyly
6608	SMO	HP:0000520	Proptosis
6608	SMO	HP:0001829	Foot polydactyly
6608	SMO	HP:0001824	Weight loss
6608	SMO	HP:0001830	Postaxial foot polydactyly
6608	SMO	HP:0030344	Decreased circulating luteinizing hormone level
6608	SMO	HP:0030341	Decreased circulating follicle stimulating hormone concentration
6608	SMO	HP:0000581	Blepharophimosis
6608	SMO	HP:0000588	Optic disc coloboma
6608	SMO	HP:0000568	Microphthalmia
6609	SMPD1	HP:0001103	Abnormal macular morphology
6609	SMPD1	HP:0007302	Bipolar affective disorder
6609	SMPD1	HP:0001268	Mental deterioration
6609	SMPD1	HP:0001252	Hypotonia
6609	SMPD1	HP:0001251	Ataxia
6609	SMPD1	HP:0001249	Intellectual disability
6609	SMPD1	HP:0001265	Hyporeflexia
6609	SMPD1	HP:0001263	Global developmental delay
6609	SMPD1	HP:0001257	Spasticity
6609	SMPD1	HP:0002540	Inability to walk
6609	SMPD1	HP:0001399	Hepatic failure
6609	SMPD1	HP:0001394	Cirrhosis
6609	SMPD1	HP:0008872	Feeding difficulties in infancy
6609	SMPD1	HP:0001328	Specific learning disability
6609	SMPD1	HP:0001324	Muscle weakness
6609	SMPD1	HP:0000007	Autosomal recessive inheritance
6609	SMPD1	HP:0001317	Abnormal cerebellum morphology
6609	SMPD1	HP:0002756	Pathologic fracture
6609	SMPD1	HP:0001410	Decreased liver function
6609	SMPD1	HP:0002750	Delayed skeletal maturation
6609	SMPD1	HP:0002716	Lymphadenopathy
6609	SMPD1	HP:0002725	Systemic lupus erythematosus
6609	SMPD1	HP:0002019	Constipation
6609	SMPD1	HP:0002013	Vomiting
6609	SMPD1	HP:0002094	Dyspnea
6609	SMPD1	HP:0002063	Rigidity
6609	SMPD1	HP:0002155	Hypertriglyceridemia
6609	SMPD1	HP:0002121	Generalized non-motor (absence) seizure
6609	SMPD1	HP:0002188	Delayed CNS myelination
6609	SMPD1	HP:0002186	Apraxia
6609	SMPD1	HP:0002194	Delayed gross motor development
6609	SMPD1	HP:0003596	Middle age onset
6609	SMPD1	HP:0003593	Infantile onset
6609	SMPD1	HP:0002240	Hepatomegaly
6609	SMPD1	HP:0004887	Respiratory failure requiring assisted ventilation
6609	SMPD1	HP:0002207	Diffuse reticular or finely nodular infiltrations
6609	SMPD1	HP:0002205	Recurrent respiratory infections
6609	SMPD1	HP:0010729	Cherry red spot of the macula
6609	SMPD1	HP:0007018	Attention deficit hyperactivity disorder
6609	SMPD1	HP:0004836	Acute promyelocytic leukemia
6609	SMPD1	HP:0002376	Developmental regression
6609	SMPD1	HP:0009830	Peripheral neuropathy
6609	SMPD1	HP:0001081	Cholelithiasis
6609	SMPD1	HP:0002305	Athetosis
6609	SMPD1	HP:0003609	Foam cells with lamellar inclusion bodies
6609	SMPD1	HP:0003621	Juvenile onset
6609	SMPD1	HP:0001971	Hypersplenism
6609	SMPD1	HP:0000639	Nystagmus
6609	SMPD1	HP:0001982	Sea-blue histiocytosis
6609	SMPD1	HP:0001973	Autoimmune thrombocytopenia
6609	SMPD1	HP:0001935	Microcytic anemia
6609	SMPD1	HP:0001903	Anemia
6609	SMPD1	HP:0004322	Short stature
6609	SMPD1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
6609	SMPD1	HP:0004333	Bone-marrow foam cells
6609	SMPD1	HP:0031964	Elevated circulating alanine aminotransferase concentration
6609	SMPD1	HP:0003077	Hyperlipidemia
6609	SMPD1	HP:0000737	Irritability
6609	SMPD1	HP:0000716	Depression
6609	SMPD1	HP:0000708	Atypical behavior
6609	SMPD1	HP:0000707	Abnormality of the nervous system
6609	SMPD1	HP:0011463	Childhood onset
6609	SMPD1	HP:0011462	Young adult onset
6609	SMPD1	HP:0003119	Abnormal circulating lipid concentration
6609	SMPD1	HP:0003141	Increased LDL cholesterol concentration
6609	SMPD1	HP:0000823	Delayed puberty
6609	SMPD1	HP:0003233	Decreased HDL cholesterol concentration
6609	SMPD1	HP:0003202	Skeletal muscle atrophy
6609	SMPD1	HP:0045051	Decreased DLCO
6609	SMPD1	HP:0034300	Decreased acid sphingomyelinase activity
6609	SMPD1	HP:0000991	Xanthomatosis
6609	SMPD1	HP:0000939	Osteoporosis
6609	SMPD1	HP:0000938	Osteopenia
6609	SMPD1	HP:0000256	Macrocephaly
6609	SMPD1	HP:0002829	Arthralgia
6609	SMPD1	HP:0002896	Neoplasm of the liver
6609	SMPD1	HP:0001541	Ascites
6609	SMPD1	HP:0001538	Protuberant abdomen
6609	SMPD1	HP:0001508	Failure to thrive
6609	SMPD1	HP:0006579	Prolonged neonatal jaundice
6609	SMPD1	HP:0006530	Abnormal pulmonary interstitial morphology
6609	SMPD1	HP:0006520	Progressive pulmonary function impairment
6609	SMPD1	HP:0001677	Coronary artery atherosclerosis
6609	SMPD1	HP:0001654	Abnormal heart valve morphology
6609	SMPD1	HP:0012415	Abnormal blood gas level
6609	SMPD1	HP:0001744	Splenomegaly
6609	SMPD1	HP:0030353	Decreased serum insulin-like growth factor 1
6609	SMPD1	HP:0001892	Abnormal bleeding
6609	SMPD1	HP:0001873	Thrombocytopenia
6611	SMS	HP:0001187	Hyperextensibility of the finger joints
6611	SMS	HP:0001166	Arachnodactyly
6611	SMS	HP:0001290	Generalized hypotonia
6611	SMS	HP:0100807	Long fingers
6611	SMS	HP:0001256	Intellectual disability, mild
6611	SMS	HP:0001250	Seizure
6611	SMS	HP:0001252	Hypotonia
6611	SMS	HP:0001249	Intellectual disability
6611	SMS	HP:0001260	Dysarthria
6611	SMS	HP:0001263	Global developmental delay
6611	SMS	HP:0002540	Inability to walk
6611	SMS	HP:0000086	Ectopic kidney
6611	SMS	HP:0000098	Tall stature
6611	SMS	HP:0000047	Hypospadias
6611	SMS	HP:0001355	Megalencephaly
6611	SMS	HP:0002684	Thickened calvaria
6611	SMS	HP:0000029	Testicular atrophy
6611	SMS	HP:0000028	Cryptorchidism
6611	SMS	HP:0007509	Patchy hypo- and hyperpigmentation
6611	SMS	HP:0001344	Absent speech
6611	SMS	HP:0001336	Myoclonus
6611	SMS	HP:0002650	Scoliosis
6611	SMS	HP:0000179	Thick lower lip vermilion
6611	SMS	HP:0000193	Bifid uvula
6611	SMS	HP:0000160	Narrow mouth
6611	SMS	HP:0000175	Cleft palate
6611	SMS	HP:0007687	Unilateral ptosis
6611	SMS	HP:0008947	Infantile muscular hypotonia
6611	SMS	HP:0002705	High, narrow palate
6611	SMS	HP:0002757	Recurrent fractures
6611	SMS	HP:0002753	Thin bony cortex
6611	SMS	HP:0002751	Kyphoscoliosis
6611	SMS	HP:0001419	X-linked recessive inheritance
6611	SMS	HP:0002123	Generalized myoclonic seizure
6611	SMS	HP:0002136	Broad-based gait
6611	SMS	HP:0002187	Intellectual disability, profound
6611	SMS	HP:0002181	Cerebral edema
6611	SMS	HP:0010511	Long toe
6611	SMS	HP:0010722	Asymmetry of the ears
6611	SMS	HP:0003698	Difficulty standing
6611	SMS	HP:0002353	EEG abnormality
6611	SMS	HP:0002317	Unsteady gait
6611	SMS	HP:0010789	Abnormality of the Leydig cells
6611	SMS	HP:0004283	Narrow palm
6611	SMS	HP:0000678	Dental crowding
6611	SMS	HP:0011308	Slender toe
6611	SMS	HP:0011302	Long palm
6611	SMS	HP:0001999	Abnormal facial shape
6611	SMS	HP:0000664	Synophrys
6611	SMS	HP:0004322	Short stature
6611	SMS	HP:0004305	Involuntary movements
6611	SMS	HP:0000767	Pectus excavatum
6611	SMS	HP:0000768	Pectus carinatum
6611	SMS	HP:0000750	Delayed speech and language development
6611	SMS	HP:0003199	Decreased muscle mass
6611	SMS	HP:0045075	Sparse eyebrow
6611	SMS	HP:0000954	Single transverse palmar crease
6611	SMS	HP:0000939	Osteoporosis
6611	SMS	HP:0000275	Narrow face
6611	SMS	HP:0000276	Long face
6611	SMS	HP:0002808	Kyphosis
6611	SMS	HP:0000248	Brachycephaly
6611	SMS	HP:0000218	High palate
6611	SMS	HP:0000232	Everted lower lip vermilion
6611	SMS	HP:0001519	Disproportionate tall stature
6611	SMS	HP:0012385	Camptodactyly
6611	SMS	HP:0000385	Small earlobe
6611	SMS	HP:0000378	Cupped ear
6611	SMS	HP:0000377	Abnormal pinna morphology
6611	SMS	HP:0000391	Thickened helices
6611	SMS	HP:0001609	Hoarse voice
6611	SMS	HP:0001611	Hypernasal speech
6611	SMS	HP:0011003	High myopia
6611	SMS	HP:0000369	Low-set ears
6611	SMS	HP:0000319	Smooth philtrum
6611	SMS	HP:0000316	Hypertelorism
6611	SMS	HP:0000322	Short philtrum
6611	SMS	HP:0000324	Facial asymmetry
6611	SMS	HP:0002953	Vertebral compression fracture
6611	SMS	HP:0000303	Mandibular prognathia
6611	SMS	HP:0006610	Wide intermamillary distance
6611	SMS	HP:0011153	Focal motor seizure
6611	SMS	HP:0000463	Anteverted nares
6611	SMS	HP:0000470	Short neck
6611	SMS	HP:0000465	Webbed neck
6611	SMS	HP:0000414	Bulbous nose
6611	SMS	HP:0001762	Talipes equinovarus
6611	SMS	HP:0000426	Prominent nasal bridge
6611	SMS	HP:0001847	Long hallux
6611	SMS	HP:0000520	Proptosis
6611	SMS	HP:0000508	Ptosis
6611	SMS	HP:0000582	Upslanted palpebral fissure
6616	SNAP25	HP:0002465	Poor speech
6616	SNAP25	HP:0002421	Poor head control
6616	SNAP25	HP:0003701	Proximal muscle weakness
6616	SNAP25	HP:0001270	Motor delay
6616	SNAP25	HP:0001283	Bulbar palsy
6616	SNAP25	HP:0001284	Areflexia
6616	SNAP25	HP:0001250	Seizure
6616	SNAP25	HP:0001252	Hypotonia
6616	SNAP25	HP:0001251	Ataxia
6616	SNAP25	HP:0001249	Intellectual disability
6616	SNAP25	HP:0001265	Hyporeflexia
6616	SNAP25	HP:0001260	Dysarthria
6616	SNAP25	HP:0001263	Global developmental delay
6616	SNAP25	HP:0002515	Waddling gait
6616	SNAP25	HP:0001374	Congenital hip dislocation
6616	SNAP25	HP:0001388	Joint laxity
6616	SNAP25	HP:0000006	Autosomal dominant inheritance
6616	SNAP25	HP:0002643	Neonatal respiratory distress
6616	SNAP25	HP:0025401	Staring gaze
6616	SNAP25	HP:0002751	Kyphoscoliosis
6616	SNAP25	HP:0002020	Gastroesophageal reflux
6616	SNAP25	HP:0002033	Poor suck
6616	SNAP25	HP:0004661	Frontalis muscle weakness
6616	SNAP25	HP:0003325	Limb-girdle muscle weakness
6616	SNAP25	HP:0002015	Dysphagia
6616	SNAP25	HP:0003306	Spinal rigidity
6616	SNAP25	HP:0003324	Generalized muscle weakness
6616	SNAP25	HP:0005943	Respiratory arrest
6616	SNAP25	HP:0003388	Easy fatigability
6616	SNAP25	HP:0003473	Fatigable weakness
6616	SNAP25	HP:0003458	EMG: myopathic abnormalities
6616	SNAP25	HP:0010536	Central sleep apnea
6616	SNAP25	HP:0010529	Echolalia
6616	SNAP25	HP:0004885	Episodic respiratory distress
6616	SNAP25	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
6616	SNAP25	HP:0002205	Recurrent respiratory infections
6616	SNAP25	HP:0011968	Feeding difficulties
6616	SNAP25	HP:0002392	EEG with polyspike wave complexes
6616	SNAP25	HP:0003693	Distal amyotrophy
6616	SNAP25	HP:0002355	Difficulty walking
6616	SNAP25	HP:0008443	Neuropathic spinal arthropathy
6616	SNAP25	HP:0007178	Motor polyneuropathy
6616	SNAP25	HP:0000639	Nystagmus
6616	SNAP25	HP:0000651	Diplopia
6616	SNAP25	HP:0000602	Ophthalmoplegia
6616	SNAP25	HP:0009053	Distal lower limb muscle weakness
6616	SNAP25	HP:0034197	Third trimester onset
6616	SNAP25	HP:0031936	Delayed ability to walk
6616	SNAP25	HP:0000768	Pectus carinatum
6616	SNAP25	HP:0011469	Nasal regurgitation
6616	SNAP25	HP:0012801	Narrow jaw
6616	SNAP25	HP:0030842	Choking episodes
6616	SNAP25	HP:0010307	Stridor
6616	SNAP25	HP:0100285	EMG: impaired neuromuscular transmission
6616	SNAP25	HP:0000961	Cyanosis
6616	SNAP25	HP:0100295	Muscle fiber atrophy
6616	SNAP25	HP:0000276	Long face
6616	SNAP25	HP:0002804	Arthrogryposis multiplex congenita
6616	SNAP25	HP:0006380	Knee flexion contracture
6616	SNAP25	HP:0002882	Sudden episodic apnea
6616	SNAP25	HP:0000218	High palate
6616	SNAP25	HP:0001561	Polyhydramnios
6616	SNAP25	HP:0001558	Decreased fetal movement
6616	SNAP25	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
6616	SNAP25	HP:0002870	Obstructive sleep apnea
6616	SNAP25	HP:0030051	Tip-toe gait
6616	SNAP25	HP:0030208	Anti-acetylcholine receptor antibody positivity
6616	SNAP25	HP:0001618	Dysphonia
6616	SNAP25	HP:0001612	Weak cry
6616	SNAP25	HP:0001611	Hypernasal speech
6616	SNAP25	HP:0000369	Low-set ears
6616	SNAP25	HP:0000308	Microretrognathia
6616	SNAP25	HP:0000407	Sensorineural hearing impairment
6616	SNAP25	HP:0000467	Neck muscle weakness
6616	SNAP25	HP:0001761	Pes cavus
6616	SNAP25	HP:0000508	Ptosis
6616	SNAP25	HP:0000565	Esotropia
6620	SNCB	HP:0000006	Autosomal dominant inheritance
6620	SNCB	HP:0001300	Parkinsonism
6620	SNCB	HP:0002367	Visual hallucinations
6620	SNCB	HP:0007159	Fluctuations in consciousness
6620	SNCB	HP:0000746	Delusions
6620	SNCB	HP:0000726	Dementia
6620	SNCB	HP:0100315	Lewy bodies
6622	SNCA	HP:0007256	Abnormal pyramidal sign
6622	SNCA	HP:0025269	Panic attack
6622	SNCA	HP:0001278	Orthostatic hypotension
6622	SNCA	HP:0001268	Mental deterioration
6622	SNCA	HP:0001288	Gait disturbance
6622	SNCA	HP:0002578	Gastroparesis
6622	SNCA	HP:0001260	Dysarthria
6622	SNCA	HP:0001257	Spasticity
6622	SNCA	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
6622	SNCA	HP:0002505	Loss of ambulation
6622	SNCA	HP:0001347	Hyperreflexia
6622	SNCA	HP:0001332	Dystonia
6622	SNCA	HP:0000011	Neurogenic bladder
6622	SNCA	HP:0000012	Urinary urgency
6622	SNCA	HP:0001337	Tremor
6622	SNCA	HP:0000006	Autosomal dominant inheritance
6622	SNCA	HP:0001336	Myoclonus
6622	SNCA	HP:0001300	Parkinsonism
6622	SNCA	HP:0002018	Nausea
6622	SNCA	HP:0002019	Constipation
6622	SNCA	HP:0040307	Male sexual dysfunction
6622	SNCA	HP:0002014	Diarrhea
6622	SNCA	HP:0002015	Dysphagia
6622	SNCA	HP:0002080	Intention tremor
6622	SNCA	HP:0100543	Cognitive impairment
6622	SNCA	HP:0002067	Bradykinesia
6622	SNCA	HP:0003394	Muscle spasm
6622	SNCA	HP:0002063	Rigidity
6622	SNCA	HP:0002141	Gait imbalance
6622	SNCA	HP:0003487	Babinski sign
6622	SNCA	HP:0002120	Cerebral cortical atrophy
6622	SNCA	HP:0002171	Gliosis
6622	SNCA	HP:0002172	Postural instability
6622	SNCA	HP:0003596	Middle age onset
6622	SNCA	HP:0003587	Insidious onset
6622	SNCA	HP:0003584	Late onset
6622	SNCA	HP:0100710	Impulsivity
6622	SNCA	HP:0100785	Insomnia
6622	SNCA	HP:0002283	Global brain atrophy
6622	SNCA	HP:0100753	Schizophrenia
6622	SNCA	HP:0011999	Paranoia
6622	SNCA	HP:0011960	Substantia nigra gliosis
6622	SNCA	HP:0002367	Visual hallucinations
6622	SNCA	HP:0002362	Shuffling gait
6622	SNCA	HP:0002360	Sleep disturbance
6622	SNCA	HP:0002359	Frequent falls
6622	SNCA	HP:0002375	Hypokinesia
6622	SNCA	HP:0003676	Progressive
6622	SNCA	HP:0003678	Rapidly progressive
6622	SNCA	HP:0002322	Resting tremor
6622	SNCA	HP:0100660	Dyskinesia
6622	SNCA	HP:0007159	Fluctuations in consciousness
6622	SNCA	HP:0002304	Akinesia
6622	SNCA	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
6622	SNCA	HP:0000651	Diplopia
6622	SNCA	HP:0031908	Micrographia
6622	SNCA	HP:0000738	Hallucinations
6622	SNCA	HP:0000739	Anxiety
6622	SNCA	HP:0000736	Short attention span
6622	SNCA	HP:0000735	Impaired social interactions
6622	SNCA	HP:0000744	Low frustration tolerance
6622	SNCA	HP:0000746	Delusions
6622	SNCA	HP:0000741	Apathy
6622	SNCA	HP:0000716	Depression
6622	SNCA	HP:0000713	Agitation
6622	SNCA	HP:0000727	Frontal lobe dementia
6622	SNCA	HP:0000726	Dementia
6622	SNCA	HP:0011462	Young adult onset
6622	SNCA	HP:0004409	Hyposmia
6622	SNCA	HP:0100315	Lewy bodies
6622	SNCA	HP:0030014	Female sexual dysfunction
6622	SNCA	HP:0031435	Monotonic speech
6622	SNCA	HP:0012332	Abnormal autonomic nervous system physiology
6622	SNCA	HP:0000338	Hypomimic face
6622	SNCA	HP:0005340	Spastic/hyperactive bladder
6622	SNCA	HP:0012452	Restless legs
6622	SNCA	HP:0012450	Chronic constipation
6622	SNCA	HP:0001762	Talipes equinovarus
6622	SNCA	HP:0000514	Slow saccadic eye movements
6622	SNCA	HP:0001824	Weight loss
6622	SNCA	HP:0000551	Color vision defect
6628	SNRPB	HP:0002475	Myelomeningocele
6628	SNRPB	HP:0002435	Meningocele
6628	SNRPB	HP:0002414	Spina bifida
6628	SNRPB	HP:0001249	Intellectual disability
6628	SNRPB	HP:0002514	Cerebral calcification
6628	SNRPB	HP:0000086	Ectopic kidney
6628	SNRPB	HP:0000085	Horseshoe kidney
6628	SNRPB	HP:0001374	Congenital hip dislocation
6628	SNRPB	HP:0008897	Postnatal growth retardation
6628	SNRPB	HP:0000003	Multicystic kidney dysplasia
6628	SNRPB	HP:0000006	Autosomal dominant inheritance
6628	SNRPB	HP:0002650	Scoliosis
6628	SNRPB	HP:0002643	Neonatal respiratory distress
6628	SNRPB	HP:0000185	Cleft soft palate
6628	SNRPB	HP:0000162	Glossoptosis
6628	SNRPB	HP:0000175	Cleft palate
6628	SNRPB	HP:0410030	Cleft lip
6628	SNRPB	HP:0002779	Tracheomalacia
6628	SNRPB	HP:0000107	Renal cyst
6628	SNRPB	HP:0002025	Anal stenosis
6628	SNRPB	HP:0002020	Gastroesophageal reflux
6628	SNRPB	HP:0004695	Calcaneal epiphyseal stippling
6628	SNRPB	HP:0002132	Porencephalic cyst
6628	SNRPB	HP:0003577	Congenital onset
6628	SNRPB	HP:0011968	Feeding difficulties
6628	SNRPB	HP:0002324	Hydranencephaly
6628	SNRPB	HP:0004209	Clinodactyly of the 5th finger
6628	SNRPB	HP:0000670	Carious teeth
6628	SNRPB	HP:0004322	Short stature
6628	SNRPB	HP:0004468	Anomalous tracheal cartilage
6628	SNRPB	HP:0005792	Short humerus
6628	SNRPB	HP:0000878	11 pairs of ribs
6628	SNRPB	HP:0010290	Short hard palate
6628	SNRPB	HP:0000286	Epicanthus
6628	SNRPB	HP:0001591	Bell-shaped thorax
6628	SNRPB	HP:0000272	Malar flattening
6628	SNRPB	HP:0002808	Kyphosis
6628	SNRPB	HP:0000252	Microcephaly
6628	SNRPB	HP:0000218	High palate
6628	SNRPB	HP:0001545	Anteriorly placed anus
6628	SNRPB	HP:0001561	Polyhydramnios
6628	SNRPB	HP:0001522	Death in infancy
6628	SNRPB	HP:0000201	Pierre-Robin sequence
6628	SNRPB	HP:0001511	Intrauterine growth retardation
6628	SNRPB	HP:0005257	Thoracic hypoplasia
6628	SNRPB	HP:0006593	Anomalous rib insertion to vertebrae
6628	SNRPB	HP:0000358	Posteriorly rotated ears
6628	SNRPB	HP:0000369	Low-set ears
6628	SNRPB	HP:0000343	Long philtrum
6628	SNRPB	HP:0000347	Micrognathia
6628	SNRPB	HP:0001643	Patent ductus arteriosus
6628	SNRPB	HP:0002987	Elbow flexion contracture
6628	SNRPB	HP:0001629	Ventricular septal defect
6628	SNRPB	HP:0001631	Atrial septal defect
6628	SNRPB	HP:0030300	10 pairs of ribs
6628	SNRPB	HP:0000405	Conductive hearing impairment
6628	SNRPB	HP:0000494	Downslanted palpebral fissures
6628	SNRPB	HP:0000465	Webbed neck
6628	SNRPB	HP:0030282	Posterior rib gap
6628	SNRPB	HP:0030280	Rib gap
6628	SNRPB	HP:0000413	Atresia of the external auditory canal
6635	SNRPE	HP:0100840	Aplasia/Hypoplasia of the eyebrow
6635	SNRPE	HP:0000006	Autosomal dominant inheritance
6635	SNRPE	HP:0002221	Absent axillary hair
6635	SNRPE	HP:0200102	Sparse or absent eyelashes
6635	SNRPE	HP:0002231	Sparse body hair
6635	SNRPE	HP:0002209	Sparse scalp hair
6635	SNRPE	HP:0002289	Alopecia universalis
6635	SNRPE	HP:0000653	Sparse eyelashes
6635	SNRPE	HP:0045075	Sparse eyebrow
6635	SNRPE	HP:0008070	Sparse hair
6635	SNRPE	HP:0001596	Alopecia
6638	SNRPN	HP:0001156	Brachydactyly
6638	SNRPN	HP:0002465	Poor speech
6638	SNRPN	HP:0025160	Abnormal temper tantrums
6638	SNRPN	HP:0007240	Progressive gait ataxia
6638	SNRPN	HP:0010864	Intellectual disability, severe
6638	SNRPN	HP:0003745	Sporadic
6638	SNRPN	HP:0001290	Generalized hypotonia
6638	SNRPN	HP:0001270	Motor delay
6638	SNRPN	HP:0001256	Intellectual disability, mild
6638	SNRPN	HP:0001250	Seizure
6638	SNRPN	HP:0001252	Hypotonia
6638	SNRPN	HP:0001251	Ataxia
6638	SNRPN	HP:0001249	Intellectual disability
6638	SNRPN	HP:0002578	Gastroparesis
6638	SNRPN	HP:0001265	Hyporeflexia
6638	SNRPN	HP:0002591	Polyphagia
6638	SNRPN	HP:0001263	Global developmental delay
6638	SNRPN	HP:0008770	Obsessive-compulsive trait
6638	SNRPN	HP:0008734	Decreased testicular size
6638	SNRPN	HP:0410263	Brain imaging abnormality
6638	SNRPN	HP:0000064	Hypoplastic labia minora
6638	SNRPN	HP:0000060	Clitoral hypoplasia
6638	SNRPN	HP:0000077	Abnormality of the kidney
6638	SNRPN	HP:0000044	Hypogonadotropic hypogonadism
6638	SNRPN	HP:0000046	Small scrotum
6638	SNRPN	HP:0001385	Hip dysplasia
6638	SNRPN	HP:0001347	Hyperreflexia
6638	SNRPN	HP:0000028	Cryptorchidism
6638	SNRPN	HP:0008872	Feeding difficulties in infancy
6638	SNRPN	HP:0031169	Postterm pregnancy
6638	SNRPN	HP:0001328	Specific learning disability
6638	SNRPN	HP:0001344	Absent speech
6638	SNRPN	HP:0000006	Autosomal dominant inheritance
6638	SNRPN	HP:0002650	Scoliosis
6638	SNRPN	HP:0001319	Neonatal hypotonia
6638	SNRPN	HP:0031100	Decreased inhibin B level
6638	SNRPN	HP:0000193	Bifid uvula
6638	SNRPN	HP:0012166	Skin-picking
6638	SNRPN	HP:0012168	Head-banging
6638	SNRPN	HP:0000158	Macroglossia
6638	SNRPN	HP:0000175	Cleft palate
6638	SNRPN	HP:0000154	Wide mouth
6638	SNRPN	HP:0006347	Microdontia of primary teeth
6638	SNRPN	HP:0008947	Infantile muscular hypotonia
6638	SNRPN	HP:0012104	Parietal cortical atrophy
6638	SNRPN	HP:0012105	Occipital cortical atrophy
6638	SNRPN	HP:0001426	Multifactorial inheritance
6638	SNRPN	HP:0002714	Downturned corners of mouth
6638	SNRPN	HP:0002019	Constipation
6638	SNRPN	HP:0002033	Poor suck
6638	SNRPN	HP:0002098	Respiratory distress
6638	SNRPN	HP:0011734	Central adrenal insufficiency
6638	SNRPN	HP:0011787	Central hypothyroidism
6638	SNRPN	HP:0002120	Cerebral cortical atrophy
6638	SNRPN	HP:0002119	Ventriculomegaly
6638	SNRPN	HP:0002136	Broad-based gait
6638	SNRPN	HP:0100704	Cerebral visual impairment
6638	SNRPN	HP:0100716	Self-injurious behavior
6638	SNRPN	HP:0002205	Recurrent respiratory infections
6638	SNRPN	HP:0100739	Bulimia
6638	SNRPN	HP:0002286	Fair hair
6638	SNRPN	HP:0200085	Limb tremor
6638	SNRPN	HP:0007018	Attention deficit hyperactivity disorder
6638	SNRPN	HP:0200096	Triangular-shaped open mouth
6638	SNRPN	HP:0010627	Anterior pituitary hypoplasia
6638	SNRPN	HP:0002360	Sleep disturbance
6638	SNRPN	HP:0002342	Intellectual disability, moderate
6638	SNRPN	HP:0001010	Hypopigmentation of the skin
6638	SNRPN	HP:0002353	EEG abnormality
6638	SNRPN	HP:0010829	Impaired temperature sensation
6638	SNRPN	HP:0010808	Protruding tongue
6638	SNRPN	HP:0010801	Underdeveloped nasolabial fold
6638	SNRPN	HP:0200055	Small hand
6638	SNRPN	HP:0010741	Pedal edema
6638	SNRPN	HP:0002312	Clumsiness
6638	SNRPN	HP:0002307	Drooling
6638	SNRPN	HP:0004209	Clinodactyly of the 5th finger
6638	SNRPN	HP:0006829	Severe muscular hypotonia
6638	SNRPN	HP:0009085	Alveolar ridge overgrowth
6638	SNRPN	HP:0009088	Speech articulation difficulties
6638	SNRPN	HP:0004283	Narrow palm
6638	SNRPN	HP:0005599	Hypopigmentation of hair
6638	SNRPN	HP:0006889	Intellectual disability, borderline
6638	SNRPN	HP:0006887	Intellectual disability, progressive
6638	SNRPN	HP:0000639	Nystagmus
6638	SNRPN	HP:0000635	Blue irides
6638	SNRPN	HP:0000601	Hypotelorism
6638	SNRPN	HP:0000687	Widely spaced teeth
6638	SNRPN	HP:0012650	Perisylvian polymicrogyria
6638	SNRPN	HP:0000670	Carious teeth
6638	SNRPN	HP:0001999	Abnormal facial shape
6638	SNRPN	HP:0004322	Short stature
6638	SNRPN	HP:0006979	Sleep-wake cycle disturbance
6638	SNRPN	HP:0006956	Lateral ventricle dilatation
6638	SNRPN	HP:0031936	Delayed ability to walk
6638	SNRPN	HP:0000758	Abnormal nonverbal communicative behavior
6638	SNRPN	HP:0000752	Hyperactivity
6638	SNRPN	HP:0000739	Anxiety
6638	SNRPN	HP:0000733	Abnormal repetitive mannerisms
6638	SNRPN	HP:0000736	Short attention span
6638	SNRPN	HP:0000735	Impaired social interactions
6638	SNRPN	HP:0000732	Inflexible adherence to routines or rituals
6638	SNRPN	HP:0000750	Delayed speech and language development
6638	SNRPN	HP:0000749	Paroxysmal bursts of laughter
6638	SNRPN	HP:0000748	Inappropriate laughter
6638	SNRPN	HP:0012704	Widened subarachnoid space
6638	SNRPN	HP:0000717	Autism
6638	SNRPN	HP:0000710	Hyperorality
6638	SNRPN	HP:0000729	Autistic behavior
6638	SNRPN	HP:0000728	Impaired ability to form peer relationships
6638	SNRPN	HP:0000723	Restrictive behavior
6638	SNRPN	HP:0000722	Compulsive behaviors
6638	SNRPN	HP:0000721	Lack of spontaneous play
6638	SNRPN	HP:0000709	Psychosis
6638	SNRPN	HP:0000708	Atypical behavior
6638	SNRPN	HP:0011470	Nasogastric tube feeding in infancy
6638	SNRPN	HP:0011463	Childhood onset
6638	SNRPN	HP:0012775	Stellate iris
6638	SNRPN	HP:0000789	Infertility
6638	SNRPN	HP:0000786	Primary amenorrhea
6638	SNRPN	HP:0003196	Short nose
6638	SNRPN	HP:0004485	Cessation of head growth
6638	SNRPN	HP:0003144	Increased serum serotonin
6638	SNRPN	HP:0000819	Diabetes mellitus
6638	SNRPN	HP:0000826	Precocious puberty
6638	SNRPN	HP:0000824	Decreased response to growth hormone stimulation test
6638	SNRPN	HP:0000823	Delayed puberty
6638	SNRPN	HP:0040025	Clinodactyly of the 4th finger
6638	SNRPN	HP:0040082	Happy demeanor
6638	SNRPN	HP:0003241	External genital hypoplasia
6638	SNRPN	HP:0000953	Hyperpigmentation of the skin
6638	SNRPN	HP:0000939	Osteoporosis
6638	SNRPN	HP:0000938	Osteopenia
6638	SNRPN	HP:0000278	Retrognathia
6638	SNRPN	HP:0007730	Iris hypopigmentation
6638	SNRPN	HP:0030084	Clinodactyly
6638	SNRPN	HP:0000252	Microcephaly
6638	SNRPN	HP:0000248	Brachycephaly
6638	SNRPN	HP:0000219	Thin upper lip vermilion
6638	SNRPN	HP:0000218	High palate
6638	SNRPN	HP:0001562	Oligohydramnios
6638	SNRPN	HP:0000232	Everted lower lip vermilion
6638	SNRPN	HP:0001558	Decreased fetal movement
6638	SNRPN	HP:0002870	Obstructive sleep apnea
6638	SNRPN	HP:0002871	Central apnea
6638	SNRPN	HP:0001508	Failure to thrive
6638	SNRPN	HP:0001518	Small for gestational age
6638	SNRPN	HP:0001511	Intrauterine growth retardation
6638	SNRPN	HP:0001513	Obesity
6638	SNRPN	HP:0031507	Decreased circulating T4 concentration
6638	SNRPN	HP:0000384	Preauricular skin tag
6638	SNRPN	HP:0007874	Almond-shaped palpebral fissure
6638	SNRPN	HP:0001612	Weak cry
6638	SNRPN	HP:0001611	Hypernasal speech
6638	SNRPN	HP:0000341	Narrow forehead
6638	SNRPN	HP:0000347	Micrognathia
6638	SNRPN	HP:0000316	Hypertelorism
6638	SNRPN	HP:0001643	Patent ductus arteriosus
6638	SNRPN	HP:0000327	Hypoplasia of the maxilla
6638	SNRPN	HP:0001655	Patent foramen ovale
6638	SNRPN	HP:0001627	Abnormal heart morphology
6638	SNRPN	HP:0000303	Mandibular prognathia
6638	SNRPN	HP:0004039	Abnormal ulnar metaphysis morphology
6638	SNRPN	HP:0000486	Strabismus
6638	SNRPN	HP:0000490	Deeply set eye
6638	SNRPN	HP:0000463	Anteverted nares
6638	SNRPN	HP:0000455	Broad nasal tip
6638	SNRPN	HP:0000470	Short neck
6638	SNRPN	HP:0012433	Abnormal social behavior
6638	SNRPN	HP:0001773	Short foot
6638	SNRPN	HP:0001763	Pes planus
6638	SNRPN	HP:0012411	Premature pubarche
6638	SNRPN	HP:0012412	Premature adrenarche
6638	SNRPN	HP:0000448	Prominent nose
6638	SNRPN	HP:0000446	Narrow nasal bridge
6638	SNRPN	HP:0001776	Bilateral talipes equinovarus
6638	SNRPN	HP:0005484	Secondary microcephaly
6638	SNRPN	HP:0005469	Flat occiput
6638	SNRPN	HP:0001845	Overlapping toe
6638	SNRPN	HP:0000520	Proptosis
6638	SNRPN	HP:0000504	Abnormality of vision
6638	SNRPN	HP:0030339	Decreased circulating gonadotropin concentration
6638	SNRPN	HP:0000582	Upslanted palpebral fissure
6638	SNRPN	HP:0000577	Exotropia
6638	SNRPN	HP:0000540	Hypermetropia
6638	SNRPN	HP:0000545	Myopia
6640	SNTA1	HP:0001197	Abnormality of prenatal development or birth
6640	SNTA1	HP:0001279	Syncope
6640	SNTA1	HP:0001250	Seizure
6640	SNTA1	HP:0000006	Autosomal dominant inheritance
6640	SNTA1	HP:0500018	Abnormal cardiac exercise stress test
6640	SNTA1	HP:0004308	Ventricular arrhythmia
6640	SNTA1	HP:0005135	Abnormal T-wave
6640	SNTA1	HP:0005184	Prolonged QTc interval
6640	SNTA1	HP:0002900	Hypokalemia
6640	SNTA1	HP:0000365	Hearing impairment
6640	SNTA1	HP:0001688	Sinus bradycardia
6640	SNTA1	HP:0012332	Abnormal autonomic nervous system physiology
6640	SNTA1	HP:0001664	Torsade de pointes
6640	SNTA1	HP:0001645	Sudden cardiac death
6640	SNTA1	HP:0001663	Ventricular fibrillation
6640	SNTA1	HP:0025708	Early young adult onset
6647	SOD1	HP:0007256	Abnormal pyramidal sign
6647	SOD1	HP:0002411	Myokymia
6647	SOD1	HP:0001276	Hypertonia
6647	SOD1	HP:0001272	Cerebellar atrophy
6647	SOD1	HP:0001285	Spastic tetraparesis
6647	SOD1	HP:0001251	Ataxia
6647	SOD1	HP:0001260	Dysarthria
6647	SOD1	HP:0001257	Spasticity
6647	SOD1	HP:0007373	Motor neuron atrophy
6647	SOD1	HP:0007354	Amyotrophic lateral sclerosis
6647	SOD1	HP:0001347	Hyperreflexia
6647	SOD1	HP:0001324	Muscle weakness
6647	SOD1	HP:0001344	Absent speech
6647	SOD1	HP:0000007	Autosomal recessive inheritance
6647	SOD1	HP:0000006	Autosomal dominant inheritance
6647	SOD1	HP:0025425	Laryngospasm
6647	SOD1	HP:0008936	Axial hypotonia
6647	SOD1	HP:0002795	Abnormal respiratory system physiology
6647	SOD1	HP:0002017	Nausea and vomiting
6647	SOD1	HP:0002015	Dysphagia
6647	SOD1	HP:0003324	Generalized muscle weakness
6647	SOD1	HP:0002094	Dyspnea
6647	SOD1	HP:0003394	Muscle spasm
6647	SOD1	HP:0002061	Lower limb spasticity
6647	SOD1	HP:0003470	Paralysis
6647	SOD1	HP:0003487	Babinski sign
6647	SOD1	HP:0002151	Increased serum lactate
6647	SOD1	HP:0002180	Neurodegeneration
6647	SOD1	HP:0010535	Sleep apnea
6647	SOD1	HP:0002267	Exaggerated startle response
6647	SOD1	HP:0003593	Infantile onset
6647	SOD1	HP:0003581	Adult onset
6647	SOD1	HP:0007024	Pseudobulbar paralysis
6647	SOD1	HP:0002380	Fasciculations
6647	SOD1	HP:0002398	Degeneration of anterior horn cells
6647	SOD1	HP:0002314	Degeneration of the lateral corticospinal tracts
6647	SOD1	HP:0000739	Anxiety
6647	SOD1	HP:0000716	Depression
6647	SOD1	HP:0000712	Emotional lability
6647	SOD1	HP:0000713	Agitation
6647	SOD1	HP:0011448	Ankle clonus
6647	SOD1	HP:0003202	Skeletal muscle atrophy
6647	SOD1	HP:0000217	Xerostomia
6647	SOD1	HP:0002878	Respiratory failure
6647	SOD1	HP:0001561	Polyhydramnios
6647	SOD1	HP:0012378	Fatigue
6647	SOD1	HP:0030196	Fatigable weakness of respiratory muscles
6647	SOD1	HP:0030195	Fatigable weakness of swallowing muscles
6647	SOD1	HP:0030192	Fatigable weakness of bulbar muscles
6647	SOD1	HP:0000358	Posteriorly rotated ears
6647	SOD1	HP:0000369	Low-set ears
6647	SOD1	HP:0001845	Overlapping toe
6647	SOD1	HP:0012531	Pain
6650	CAPN15	HP:0020206	Simple ear
6650	CAPN15	HP:0001263	Global developmental delay
6650	CAPN15	HP:0008751	Laryngeal cleft
6650	CAPN15	HP:0000085	Horseshoe kidney
6650	CAPN15	HP:0000007	Autosomal recessive inheritance
6650	CAPN15	HP:0007687	Unilateral ptosis
6650	CAPN15	HP:0007633	Bilateral microphthalmos
6650	CAPN15	HP:0002023	Anal atresia
6650	CAPN15	HP:0003577	Congenital onset
6650	CAPN15	HP:0001007	Hirsutism
6650	CAPN15	HP:0009765	Low hanging columella
6650	CAPN15	HP:0004322	Short stature
6650	CAPN15	HP:0004320	Vaginal fistula
6650	CAPN15	HP:0000729	Autistic behavior
6650	CAPN15	HP:0011480	Unilateral microphthalmos
6650	CAPN15	HP:0000960	Sacral dimple
6650	CAPN15	HP:0000252	Microcephaly
6650	CAPN15	HP:0002937	Hemivertebrae
6650	CAPN15	HP:0001618	Dysphonia
6650	CAPN15	HP:0001647	Bicuspid aortic valve
6650	CAPN15	HP:0000589	Coloboma
6651	SON	HP:0025116	Fetal distress
6651	SON	HP:0001166	Arachnodactyly
6651	SON	HP:0010864	Intellectual disability, severe
6651	SON	HP:0009879	Simplified gyral pattern
6651	SON	HP:0001250	Seizure
6651	SON	HP:0001252	Hypotonia
6651	SON	HP:0002579	Gastrointestinal dysmotility
6651	SON	HP:0001249	Intellectual disability
6651	SON	HP:0002578	Gastroparesis
6651	SON	HP:0001263	Global developmental delay
6651	SON	HP:0001257	Spasticity
6651	SON	HP:0008765	Auditory hallucinations
6651	SON	HP:0002538	Abnormal cerebral cortex morphology
6651	SON	HP:0002500	Abnormal cerebral white matter morphology
6651	SON	HP:0000085	Horseshoe kidney
6651	SON	HP:0001371	Flexion contracture
6651	SON	HP:0025336	Delayed ability to sit
6651	SON	HP:0001382	Joint hypermobility
6651	SON	HP:0001363	Craniosynostosis
6651	SON	HP:0008872	Feeding difficulties in infancy
6651	SON	HP:0000006	Autosomal dominant inheritance
6651	SON	HP:0002650	Scoliosis
6651	SON	HP:0001321	Cerebellar hypoplasia
6651	SON	HP:0001319	Neonatal hypotonia
6651	SON	HP:0000193	Bifid uvula
6651	SON	HP:0000164	Abnormality of the dentition
6651	SON	HP:0000160	Narrow mouth
6651	SON	HP:0000176	Submucous cleft hard palate
6651	SON	HP:0000175	Cleft palate
6651	SON	HP:0008947	Infantile muscular hypotonia
6651	SON	HP:0000122	Unilateral renal agenesis
6651	SON	HP:0000119	Abnormality of the genitourinary system
6651	SON	HP:0000103	Polyuria
6651	SON	HP:0002751	Kyphoscoliosis
6651	SON	HP:0002719	Recurrent infections
6651	SON	HP:0002714	Downturned corners of mouth
6651	SON	HP:0002020	Gastroesophageal reflux
6651	SON	HP:0002028	Chronic diarrhea
6651	SON	HP:0002015	Dysphagia
6651	SON	HP:0002007	Frontal bossing
6651	SON	HP:0011819	Submucous cleft soft palate
6651	SON	HP:0011800	Midface retrusion
6651	SON	HP:0002097	Emphysema
6651	SON	HP:0002079	Hypoplasia of the corpus callosum
6651	SON	HP:0033128	Delayed ability to crawl
6651	SON	HP:0010485	Hyperextensibility at elbow
6651	SON	HP:0002140	Ischemic stroke
6651	SON	HP:0002121	Generalized non-motor (absence) seizure
6651	SON	HP:0002119	Ventriculomegaly
6651	SON	HP:0002133	Status epilepticus
6651	SON	HP:0002126	Polymicrogyria
6651	SON	HP:0002197	Generalized-onset seizure
6651	SON	HP:0003593	Infantile onset
6651	SON	HP:0100704	Cerebral visual impairment
6651	SON	HP:0100702	Arachnoid cyst
6651	SON	HP:0002212	Curly hair
6651	SON	HP:0002283	Global brain atrophy
6651	SON	HP:0011968	Feeding difficulties
6651	SON	HP:0430021	Abnormal common carotid artery morphology
6651	SON	HP:0003508	Proportionate short stature
6651	SON	HP:0001027	Soft, doughy skin
6651	SON	HP:0002376	Developmental regression
6651	SON	HP:0002326	Transient ischemic attack
6651	SON	HP:0200055	Small hand
6651	SON	HP:0009777	Absent thumb
6651	SON	HP:0007100	Progressive ventriculomegaly
6651	SON	HP:0002308	Chiari malformation
6651	SON	HP:0000639	Nystagmus
6651	SON	HP:0000648	Optic atrophy
6651	SON	HP:0000609	Optic nerve hypoplasia
6651	SON	HP:0011330	Metopic synostosis
6651	SON	HP:0001999	Abnormal facial shape
6651	SON	HP:0006989	Dysplastic corpus callosum
6651	SON	HP:0004322	Short stature
6651	SON	HP:0004315	Decreased circulating IgG level
6651	SON	HP:0006970	Periventricular leukomalacia
6651	SON	HP:0006956	Lateral ventricle dilatation
6651	SON	HP:0005639	Hyperextensible hand joints
6651	SON	HP:0031936	Delayed ability to walk
6651	SON	HP:0000729	Autistic behavior
6651	SON	HP:0011467	Absent gallbladder
6651	SON	HP:0011471	Gastrostomy tube feeding in infancy
6651	SON	HP:0004442	Sagittal craniosynostosis
6651	SON	HP:0004433	Secretory IgA deficiency
6651	SON	HP:0003100	Slender long bone
6651	SON	HP:0003196	Short nose
6651	SON	HP:0100307	Cerebellar hemisphere hypoplasia
6651	SON	HP:0000902	Rib fusion
6651	SON	HP:0004482	Relative macrocephaly
6651	SON	HP:0030707	Unilateral lung agenesis
6651	SON	HP:0000891	Cervical ribs
6651	SON	HP:0045075	Sparse eyebrow
6651	SON	HP:0011648	Patent ductus arteriosus after birth at term
6651	SON	HP:0000974	Hyperextensible skin
6651	SON	HP:0000286	Epicanthus
6651	SON	HP:0000293	Full cheeks
6651	SON	HP:0000256	Macrocephaly
6651	SON	HP:0002808	Kyphosis
6651	SON	HP:0002878	Respiratory failure
6651	SON	HP:0000218	High palate
6651	SON	HP:0000233	Thin vermilion border
6651	SON	HP:0001531	Failure to thrive in infancy
6651	SON	HP:0001508	Failure to thrive
6651	SON	HP:0001511	Intrauterine growth retardation
6651	SON	HP:0001510	Growth delay
6651	SON	HP:0002937	Hemivertebrae
6651	SON	HP:0002938	Lumbar hyperlordosis
6651	SON	HP:0000365	Hearing impairment
6651	SON	HP:0000369	Low-set ears
6651	SON	HP:0000341	Narrow forehead
6651	SON	HP:0000319	Smooth philtrum
6651	SON	HP:0001643	Patent ductus arteriosus
6651	SON	HP:0000327	Hypoplasia of the maxilla
6651	SON	HP:0001659	Aortic regurgitation
6651	SON	HP:0000322	Short philtrum
6651	SON	HP:0000324	Facial asymmetry
6651	SON	HP:0001629	Ventricular septal defect
6651	SON	HP:0001627	Abnormal heart morphology
6651	SON	HP:0001623	Breech presentation
6651	SON	HP:0001631	Atrial septal defect
6651	SON	HP:0007933	Broad lateral eyebrow
6651	SON	HP:0032989	Delayed ability to roll over
6651	SON	HP:0005280	Depressed nasal bridge
6651	SON	HP:0000486	Strabismus
6651	SON	HP:0000494	Downslanted palpebral fissures
6651	SON	HP:0000490	Deeply set eye
6651	SON	HP:0012443	Abnormality of brain morphology
6651	SON	HP:0001773	Short foot
6651	SON	HP:0011100	Intestinal atresia
6651	SON	HP:0000411	Protruding ear
6651	SON	HP:0000431	Wide nasal bridge
6651	SON	HP:0000529	Progressive visual loss
6651	SON	HP:0012582	Bilateral renal dysplasia
6651	SON	HP:0000577	Exotropia
6651	SON	HP:0000592	Blue sclerae
6651	SON	HP:0011229	Broad eyebrow
6651	SON	HP:0011220	Prominent forehead
6651	SON	HP:0000565	Esotropia
6651	SON	HP:0000540	Hypermetropia
6651	SON	HP:0000545	Myopia
6652	SORD	HP:0002495	Impaired vibratory sensation
6652	SORD	HP:0007328	Impaired pain sensation
6652	SORD	HP:0000007	Autosomal recessive inheritance
6652	SORD	HP:0002650	Scoliosis
6652	SORD	HP:0008994	Proximal muscle weakness in lower limbs
6652	SORD	HP:0008959	Distal upper limb muscle weakness
6652	SORD	HP:0033124	Increased serum sorbitol concentration
6652	SORD	HP:0003431	Decreased motor nerve conduction velocity
6652	SORD	HP:0007078	Decreased amplitude of sensory action potentials
6652	SORD	HP:0002355	Difficulty walking
6652	SORD	HP:0009053	Distal lower limb muscle weakness
6652	SORD	HP:0001761	Pes cavus
6653	SORL1	HP:0002463	Language impairment
6653	SORL1	HP:0003791	Deposits immunoreactive to beta-amyloid protein
6653	SORL1	HP:0001276	Hypertonia
6653	SORL1	HP:0001289	Confusion
6653	SORL1	HP:0001250	Seizure
6653	SORL1	HP:0001251	Ataxia
6653	SORL1	HP:0001249	Intellectual disability
6653	SORL1	HP:0001336	Myoclonus
6653	SORL1	HP:0001300	Parkinsonism
6653	SORL1	HP:0002120	Cerebral cortical atrophy
6653	SORL1	HP:0002186	Apraxia
6653	SORL1	HP:0002185	Neurofibrillary tangles
6653	SORL1	HP:0010526	Dysgraphia
6653	SORL1	HP:0010525	Finger agnosia
6653	SORL1	HP:0002381	Aphasia
6653	SORL1	HP:0002354	Memory impairment
6653	SORL1	HP:0000657	Oculomotor apraxia
6653	SORL1	HP:0000738	Hallucinations
6653	SORL1	HP:0000734	Disinhibition
6653	SORL1	HP:0000713	Agitation
6653	SORL1	HP:0000726	Dementia
6653	SORL1	HP:0011446	Abnormality of higher mental function
6653	SORL1	HP:0012759	Neurodevelopmental abnormality
6653	SORL1	HP:0030219	Semantic dementia
6653	SORL1	HP:0012433	Abnormal social behavior
6653	SORL1	HP:0000504	Abnormality of vision
6654	SOS1	HP:0001156	Brachydactyly
6654	SOS1	HP:0009890	High anterior hairline
6654	SOS1	HP:0001252	Hypotonia
6654	SOS1	HP:0001249	Intellectual disability
6654	SOS1	HP:0001260	Dysarthria
6654	SOS1	HP:0000078	Abnormality of the genital system
6654	SOS1	HP:0000073	Ureteral duplication
6654	SOS1	HP:0000044	Hypogonadotropic hypogonadism
6654	SOS1	HP:0000028	Cryptorchidism
6654	SOS1	HP:0008872	Feeding difficulties in infancy
6654	SOS1	HP:0007477	Abnormal dermatoglyphics
6654	SOS1	HP:0001324	Muscle weakness
6654	SOS1	HP:0000006	Autosomal dominant inheritance
6654	SOS1	HP:0002650	Scoliosis
6654	SOS1	HP:0000179	Thick lower lip vermilion
6654	SOS1	HP:0001488	Bilateral ptosis
6654	SOS1	HP:0000169	Gingival fibromatosis
6654	SOS1	HP:0000154	Wide mouth
6654	SOS1	HP:0000126	Hydronephrosis
6654	SOS1	HP:0002750	Delayed skeletal maturation
6654	SOS1	HP:0011800	Midface retrusion
6654	SOS1	HP:0002167	Abnormality of speech or vocalization
6654	SOS1	HP:0002162	Low posterior hairline
6654	SOS1	HP:0011869	Abnormal platelet function
6654	SOS1	HP:0002240	Hepatomegaly
6654	SOS1	HP:0002212	Curly hair
6654	SOS1	HP:0002208	Coarse hair
6654	SOS1	HP:0100763	Abnormality of the lymphatic system
6654	SOS1	HP:0001004	Lymphedema
6654	SOS1	HP:0003645	Prolonged partial thromboplastin time
6654	SOS1	HP:0100625	Enlarged thorax
6654	SOS1	HP:0032152	Keratosis pilaris
6654	SOS1	HP:0004209	Clinodactyly of the 5th finger
6654	SOS1	HP:0000639	Nystagmus
6654	SOS1	HP:0000635	Blue irides
6654	SOS1	HP:0001929	Reduced factor XI activity
6654	SOS1	HP:0001928	Abnormality of coagulation
6654	SOS1	HP:0011381	Aplasia of the semicircular canal
6654	SOS1	HP:0011362	Abnormal hair quantity
6654	SOS1	HP:0000689	Dental malocclusion
6654	SOS1	HP:0004322	Short stature
6654	SOS1	HP:0030680	Abnormality of cardiovascular system morphology
6654	SOS1	HP:0005692	Joint hyperflexibility
6654	SOS1	HP:0000767	Pectus excavatum
6654	SOS1	HP:0000766	Abnormal sternum morphology
6654	SOS1	HP:0000768	Pectus carinatum
6654	SOS1	HP:0011461	Fetal onset
6654	SOS1	HP:0003125	Reduced factor VIII activity
6654	SOS1	HP:0004415	Pulmonary artery stenosis
6654	SOS1	HP:0000915	Pectus excavatum of inferior sternum
6654	SOS1	HP:0045075	Sparse eyebrow
6654	SOS1	HP:0000995	Melanocytic nevus
6654	SOS1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
6654	SOS1	HP:0000978	Bruising susceptibility
6654	SOS1	HP:0011675	Arrhythmia
6654	SOS1	HP:0000286	Epicanthus
6654	SOS1	HP:0000256	Macrocephaly
6654	SOS1	HP:0000218	High palate
6654	SOS1	HP:0000212	Gingival overgrowth
6654	SOS1	HP:0001561	Polyhydramnios
6654	SOS1	HP:0001520	Large for gestational age
6654	SOS1	HP:0000391	Thickened helices
6654	SOS1	HP:0000365	Hearing impairment
6654	SOS1	HP:0000358	Posteriorly rotated ears
6654	SOS1	HP:0000369	Low-set ears
6654	SOS1	HP:0000368	Low-set, posteriorly rotated ears
6654	SOS1	HP:0000348	High forehead
6654	SOS1	HP:0000347	Micrognathia
6654	SOS1	HP:0000316	Hypertelorism
6654	SOS1	HP:0001642	Pulmonic stenosis
6654	SOS1	HP:0002974	Radioulnar synostosis
6654	SOS1	HP:0000325	Triangular face
6654	SOS1	HP:0001629	Ventricular septal defect
6654	SOS1	HP:0001641	Abnormal pulmonary valve morphology
6654	SOS1	HP:0001639	Hypertrophic cardiomyopathy
6654	SOS1	HP:0002967	Cubitus valgus
6654	SOS1	HP:0001631	Atrial septal defect
6654	SOS1	HP:0006610	Wide intermamillary distance
6654	SOS1	HP:0000407	Sensorineural hearing impairment
6654	SOS1	HP:0005280	Depressed nasal bridge
6654	SOS1	HP:0000486	Strabismus
6654	SOS1	HP:0012471	Thick vermilion border
6654	SOS1	HP:0000476	Cystic hygroma
6654	SOS1	HP:0000494	Downslanted palpebral fissures
6654	SOS1	HP:0000474	Thickened nuchal skin fold
6654	SOS1	HP:0000470	Short neck
6654	SOS1	HP:0000465	Webbed neck
6654	SOS1	HP:0001743	Abnormality of the spleen
6654	SOS1	HP:0000520	Proptosis
6654	SOS1	HP:0000508	Ptosis
6654	SOS1	HP:0001892	Abnormal bleeding
6654	SOS1	HP:0001873	Thrombocytopenia
6655	SOS2	HP:0001156	Brachydactyly
6655	SOS2	HP:0001252	Hypotonia
6655	SOS2	HP:0001260	Dysarthria
6655	SOS2	HP:0001263	Global developmental delay
6655	SOS2	HP:0000078	Abnormality of the genital system
6655	SOS2	HP:0000072	Hydroureter
6655	SOS2	HP:0000044	Hypogonadotropic hypogonadism
6655	SOS2	HP:0000028	Cryptorchidism
6655	SOS2	HP:0008872	Feeding difficulties in infancy
6655	SOS2	HP:0007477	Abnormal dermatoglyphics
6655	SOS2	HP:0001324	Muscle weakness
6655	SOS2	HP:0000006	Autosomal dominant inheritance
6655	SOS2	HP:0002650	Scoliosis
6655	SOS2	HP:0000179	Thick lower lip vermilion
6655	SOS2	HP:0002750	Delayed skeletal maturation
6655	SOS2	HP:0011800	Midface retrusion
6655	SOS2	HP:0008151	Prolonged prothrombin time
6655	SOS2	HP:0002167	Abnormality of speech or vocalization
6655	SOS2	HP:0002162	Low posterior hairline
6655	SOS2	HP:0011869	Abnormal platelet function
6655	SOS2	HP:0002240	Hepatomegaly
6655	SOS2	HP:0002212	Curly hair
6655	SOS2	HP:0002208	Coarse hair
6655	SOS2	HP:0010726	Prominent corneal nerve fibers
6655	SOS2	HP:0100763	Abnormality of the lymphatic system
6655	SOS2	HP:0001004	Lymphedema
6655	SOS2	HP:0100625	Enlarged thorax
6655	SOS2	HP:0032152	Keratosis pilaris
6655	SOS2	HP:0004209	Clinodactyly of the 5th finger
6655	SOS2	HP:0000639	Nystagmus
6655	SOS2	HP:0001928	Abnormality of coagulation
6655	SOS2	HP:0011381	Aplasia of the semicircular canal
6655	SOS2	HP:0011362	Abnormal hair quantity
6655	SOS2	HP:0004322	Short stature
6655	SOS2	HP:0030680	Abnormality of cardiovascular system morphology
6655	SOS2	HP:0005692	Joint hyperflexibility
6655	SOS2	HP:0000767	Pectus excavatum
6655	SOS2	HP:0000768	Pectus carinatum
6655	SOS2	HP:0004415	Pulmonary artery stenosis
6655	SOS2	HP:0045075	Sparse eyebrow
6655	SOS2	HP:0000995	Melanocytic nevus
6655	SOS2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
6655	SOS2	HP:0011675	Arrhythmia
6655	SOS2	HP:0000218	High palate
6655	SOS2	HP:0000391	Thickened helices
6655	SOS2	HP:0000368	Low-set, posteriorly rotated ears
6655	SOS2	HP:0001680	Coarctation of aorta
6655	SOS2	HP:0000348	High forehead
6655	SOS2	HP:0000347	Micrognathia
6655	SOS2	HP:0000316	Hypertelorism
6655	SOS2	HP:0001642	Pulmonic stenosis
6655	SOS2	HP:0002974	Radioulnar synostosis
6655	SOS2	HP:0000325	Triangular face
6655	SOS2	HP:0001629	Ventricular septal defect
6655	SOS2	HP:0001641	Abnormal pulmonary valve morphology
6655	SOS2	HP:0006610	Wide intermamillary distance
6655	SOS2	HP:0000407	Sensorineural hearing impairment
6655	SOS2	HP:0000486	Strabismus
6655	SOS2	HP:0000476	Cystic hygroma
6655	SOS2	HP:0000494	Downslanted palpebral fissures
6655	SOS2	HP:0000474	Thickened nuchal skin fold
6655	SOS2	HP:0000470	Short neck
6655	SOS2	HP:0000465	Webbed neck
6655	SOS2	HP:0001743	Abnormality of the spleen
6655	SOS2	HP:0000520	Proptosis
6655	SOS2	HP:0000508	Ptosis
6655	SOS2	HP:0001892	Abnormal bleeding
6657	SOX2	HP:0002444	Hypothalamic hamartoma
6657	SOX2	HP:0008619	Bilateral sensorineural hearing impairment
6657	SOX2	HP:0001290	Generalized hypotonia
6657	SOX2	HP:0001274	Agenesis of corpus callosum
6657	SOX2	HP:0001250	Seizure
6657	SOX2	HP:0001252	Hypotonia
6657	SOX2	HP:0001249	Intellectual disability
6657	SOX2	HP:0001264	Spastic diplegia
6657	SOX2	HP:0001263	Global developmental delay
6657	SOX2	HP:0002575	Tracheoesophageal fistula
6657	SOX2	HP:0100842	Septo-optic dysplasia
6657	SOX2	HP:0008736	Hypoplasia of penis
6657	SOX2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
6657	SOX2	HP:0002510	Spastic tetraplegia
6657	SOX2	HP:0000044	Hypogonadotropic hypogonadism
6657	SOX2	HP:0000054	Micropenis
6657	SOX2	HP:0000047	Hypospadias
6657	SOX2	HP:0001360	Holoprosencephaly
6657	SOX2	HP:0000028	Cryptorchidism
6657	SOX2	HP:0008897	Postnatal growth retardation
6657	SOX2	HP:0001331	Absent septum pellucidum
6657	SOX2	HP:0001328	Specific learning disability
6657	SOX2	HP:0000006	Autosomal dominant inheritance
6657	SOX2	HP:0000175	Cleft palate
6657	SOX2	HP:0002019	Constipation
6657	SOX2	HP:0002032	Esophageal atresia
6657	SOX2	HP:0002007	Frontal bossing
6657	SOX2	HP:0003316	Butterfly vertebrae
6657	SOX2	HP:0002079	Hypoplasia of the corpus callosum
6657	SOX2	HP:0003468	Abnormal vertebral morphology
6657	SOX2	HP:0003577	Congenital onset
6657	SOX2	HP:0008417	Vertebral hypoplasia
6657	SOX2	HP:0010627	Anterior pituitary hypoplasia
6657	SOX2	HP:0002360	Sleep disturbance
6657	SOX2	HP:0009800	Maternal diabetes
6657	SOX2	HP:0008499	High hypermetropia
6657	SOX2	HP:0000639	Nystagmus
6657	SOX2	HP:0000647	Sclerocornea
6657	SOX2	HP:0000612	Iris coloboma
6657	SOX2	HP:0000610	Abnormal choroid morphology
6657	SOX2	HP:0001959	Polydipsia
6657	SOX2	HP:0000609	Optic nerve hypoplasia
6657	SOX2	HP:0004322	Short stature
6657	SOX2	HP:0030680	Abnormality of cardiovascular system morphology
6657	SOX2	HP:0004374	Hemiplegia/hemiparesis
6657	SOX2	HP:0000717	Autism
6657	SOX2	HP:0000921	Missing ribs
6657	SOX2	HP:0000902	Rib fusion
6657	SOX2	HP:0000878	11 pairs of ribs
6657	SOX2	HP:0000873	Diabetes insipidus
6657	SOX2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
6657	SOX2	HP:0000958	Dry skin
6657	SOX2	HP:0000966	Hypohidrosis
6657	SOX2	HP:0005815	Supernumerary ribs
6657	SOX2	HP:0007703	Abnormality of retinal pigmentation
6657	SOX2	HP:0000238	Hydrocephalus
6657	SOX2	HP:0000252	Microcephaly
6657	SOX2	HP:0001510	Growth delay
6657	SOX2	HP:0001513	Obesity
6657	SOX2	HP:0012378	Fatigue
6657	SOX2	HP:0002937	Hemivertebrae
6657	SOX2	HP:0002948	Vertebral fusion
6657	SOX2	HP:0000365	Hearing impairment
6657	SOX2	HP:0001643	Patent ductus arteriosus
6657	SOX2	HP:0001629	Ventricular septal defect
6657	SOX2	HP:0000407	Sensorineural hearing impairment
6657	SOX2	HP:0000486	Strabismus
6657	SOX2	HP:0000458	Anosmia
6657	SOX2	HP:0000518	Cataract
6657	SOX2	HP:0000528	Anophthalmia
6657	SOX2	HP:0000505	Visual impairment
6657	SOX2	HP:0000501	Glaucoma
6657	SOX2	HP:0000589	Coloboma
6657	SOX2	HP:0000572	Visual loss
6657	SOX2	HP:0000568	Microphthalmia
6657	SOX2	HP:0012521	Optic nerve aplasia
6658	SOX3	HP:0009888	Abnormality of secondary sexual hair
6658	SOX3	HP:0001274	Agenesis of corpus callosum
6658	SOX3	HP:0001256	Intellectual disability, mild
6658	SOX3	HP:0001250	Seizure
6658	SOX3	HP:0001249	Intellectual disability
6658	SOX3	HP:0001263	Global developmental delay
6658	SOX3	HP:0002575	Tracheoesophageal fistula
6658	SOX3	HP:0100842	Septo-optic dysplasia
6658	SOX3	HP:0008734	Decreased testicular size
6658	SOX3	HP:0008736	Hypoplasia of penis
6658	SOX3	HP:0007360	Aplasia/Hypoplasia of the cerebellum
6658	SOX3	HP:0000062	Ambiguous genitalia
6658	SOX3	HP:0000044	Hypogonadotropic hypogonadism
6658	SOX3	HP:0000026	Male hypogonadism
6658	SOX3	HP:0000028	Cryptorchidism
6658	SOX3	HP:0001331	Absent septum pellucidum
6658	SOX3	HP:0002615	Hypotension
6658	SOX3	HP:0000175	Cleft palate
6658	SOX3	HP:0000141	Amenorrhea
6658	SOX3	HP:0000147	Polycystic ovaries
6658	SOX3	HP:0002750	Delayed skeletal maturation
6658	SOX3	HP:0001417	X-linked inheritance
6658	SOX3	HP:0002019	Constipation
6658	SOX3	HP:0002032	Esophageal atresia
6658	SOX3	HP:0002079	Hypoplasia of the corpus callosum
6658	SOX3	HP:0011755	Ectopic posterior pituitary
6658	SOX3	HP:0008187	Absence of secondary sex characteristics
6658	SOX3	HP:0008245	Pituitary hypothyroidism
6658	SOX3	HP:0010627	Anterior pituitary hypoplasia
6658	SOX3	HP:0002360	Sleep disturbance
6658	SOX3	HP:0009800	Maternal diabetes
6658	SOX3	HP:0000639	Nystagmus
6658	SOX3	HP:0001943	Hypoglycemia
6658	SOX3	HP:0001959	Polydipsia
6658	SOX3	HP:0000609	Optic nerve hypoplasia
6658	SOX3	HP:0011342	Mild global developmental delay
6658	SOX3	HP:0000657	Oculomotor apraxia
6658	SOX3	HP:0004322	Short stature
6658	SOX3	HP:0005625	Osteoporosis of vertebrae
6658	SOX3	HP:0030680	Abnormality of cardiovascular system morphology
6658	SOX3	HP:0004374	Hemiplegia/hemiparesis
6658	SOX3	HP:0012731	Ectopic anterior pituitary gland
6658	SOX3	HP:0000717	Autism
6658	SOX3	HP:0000789	Infertility
6658	SOX3	HP:0000873	Diabetes insipidus
6658	SOX3	HP:0000871	Panhypopituitarism
6658	SOX3	HP:0000864	Abnormality of the hypothalamus-pituitary axis
6658	SOX3	HP:0000839	Pituitary dwarfism
6658	SOX3	HP:0000821	Hypothyroidism
6658	SOX3	HP:0000824	Decreased response to growth hormone stimulation test
6658	SOX3	HP:0000823	Delayed puberty
6658	SOX3	HP:0040010	Small posterior fossa
6658	SOX3	HP:0040075	Hypopituitarism
6658	SOX3	HP:0040086	Abnormal prolactin level
6658	SOX3	HP:0010311	Aplasia/Hypoplasia of the breasts
6658	SOX3	HP:0000958	Dry skin
6658	SOX3	HP:0000966	Hypohidrosis
6658	SOX3	HP:0000938	Osteopenia
6658	SOX3	HP:0001510	Growth delay
6658	SOX3	HP:0001513	Obesity
6658	SOX3	HP:0012378	Fatigue
6658	SOX3	HP:0002920	Decreased circulating ACTH level
6658	SOX3	HP:0007979	Gaze-evoked horizontal nystagmus
6658	SOX3	HP:0000407	Sensorineural hearing impairment
6658	SOX3	HP:0000486	Strabismus
6658	SOX3	HP:0012447	Abnormal myelination
6658	SOX3	HP:0000458	Anosmia
6658	SOX3	HP:0000457	Depressed nasal ridge
6658	SOX3	HP:0000505	Visual impairment
6658	SOX3	HP:0030353	Decreased serum insulin-like growth factor 1
6658	SOX3	HP:0000570	Abnormal saccadic eye movements
6659	SOX4	HP:0009928	Thick nasal alae
6659	SOX4	HP:0010864	Intellectual disability, severe
6659	SOX4	HP:0009879	Simplified gyral pattern
6659	SOX4	HP:0001290	Generalized hypotonia
6659	SOX4	HP:0001272	Cerebellar atrophy
6659	SOX4	HP:0001274	Agenesis of corpus callosum
6659	SOX4	HP:0001285	Spastic tetraparesis
6659	SOX4	HP:0001250	Seizure
6659	SOX4	HP:0001249	Intellectual disability
6659	SOX4	HP:0001263	Global developmental delay
6659	SOX4	HP:0100876	Infra-orbital crease
6659	SOX4	HP:0000085	Horseshoe kidney
6659	SOX4	HP:0001388	Joint laxity
6659	SOX4	HP:0000047	Hypospadias
6659	SOX4	HP:0000028	Cryptorchidism
6659	SOX4	HP:0008897	Postnatal growth retardation
6659	SOX4	HP:0001344	Absent speech
6659	SOX4	HP:0000006	Autosomal dominant inheritance
6659	SOX4	HP:0001305	Dandy-Walker malformation
6659	SOX4	HP:0002650	Scoliosis
6659	SOX4	HP:0000179	Thick lower lip vermilion
6659	SOX4	HP:0000154	Wide mouth
6659	SOX4	HP:0008947	Infantile muscular hypotonia
6659	SOX4	HP:0008936	Axial hypotonia
6659	SOX4	HP:0000119	Abnormality of the genitourinary system
6659	SOX4	HP:0002788	Recurrent upper respiratory tract infections
6659	SOX4	HP:0002750	Delayed skeletal maturation
6659	SOX4	HP:0002719	Recurrent infections
6659	SOX4	HP:0011937	Hypoplastic fifth toenail
6659	SOX4	HP:0002263	Exaggerated cupid's bow
6659	SOX4	HP:0002209	Sparse scalp hair
6659	SOX4	HP:0100790	Hernia
6659	SOX4	HP:0011968	Feeding difficulties
6659	SOX4	HP:0011951	Aspiration pneumonia
6659	SOX4	HP:0008398	Hypoplastic fifth fingernail
6659	SOX4	HP:0002342	Intellectual disability, moderate
6659	SOX4	HP:0001007	Hirsutism
6659	SOX4	HP:0004209	Clinodactyly of the 5th finger
6659	SOX4	HP:0000696	Delayed eruption of permanent teeth
6659	SOX4	HP:0000684	Delayed eruption of teeth
6659	SOX4	HP:0001999	Abnormal facial shape
6659	SOX4	HP:0031936	Delayed ability to walk
6659	SOX4	HP:0000752	Hyperactivity
6659	SOX4	HP:0000750	Delayed speech and language development
6659	SOX4	HP:0000718	Aggressive behavior
6659	SOX4	HP:0000729	Autistic behavior
6659	SOX4	HP:0000708	Atypical behavior
6659	SOX4	HP:0003196	Short nose
6659	SOX4	HP:0012810	Wide nasal base
6659	SOX4	HP:0009237	Short 5th finger
6659	SOX4	HP:0000998	Hypertrichosis
6659	SOX4	HP:0000286	Epicanthus
6659	SOX4	HP:0000280	Coarse facial features
6659	SOX4	HP:0000294	Low anterior hairline
6659	SOX4	HP:0000289	Broad philtrum
6659	SOX4	HP:0030084	Clinodactyly
6659	SOX4	HP:0000243	Trigonocephaly
6659	SOX4	HP:0000252	Microcephaly
6659	SOX4	HP:0002884	Hepatoblastoma
6659	SOX4	HP:0000219	Thin upper lip vermilion
6659	SOX4	HP:0002895	Papillary thyroid carcinoma
6659	SOX4	HP:0001511	Intrauterine growth retardation
6659	SOX4	HP:0001510	Growth delay
6659	SOX4	HP:0001601	Laryngomalacia
6659	SOX4	HP:0000365	Hearing impairment
6659	SOX4	HP:0000358	Posteriorly rotated ears
6659	SOX4	HP:0000369	Low-set ears
6659	SOX4	HP:0001643	Patent ductus arteriosus
6659	SOX4	HP:0001629	Ventricular septal defect
6659	SOX4	HP:0001627	Abnormal heart morphology
6659	SOX4	HP:0001636	Tetralogy of Fallot
6659	SOX4	HP:0001631	Atrial septal defect
6659	SOX4	HP:0005280	Depressed nasal bridge
6659	SOX4	HP:0000486	Strabismus
6659	SOX4	HP:0012471	Thick vermilion border
6659	SOX4	HP:0001792	Small nail
6659	SOX4	HP:0000463	Anteverted nares
6659	SOX4	HP:0000455	Broad nasal tip
6659	SOX4	HP:0001838	Rocker bottom foot
6659	SOX4	HP:0000508	Ptosis
6659	SOX4	HP:0000505	Visual impairment
6659	SOX4	HP:0011231	Prominent eyelashes
6659	SOX4	HP:0000574	Thick eyebrow
6659	SOX4	HP:0012523	Oral aversion
6659	SOX4	HP:0000545	Myopia
6660	SOX5	HP:0001290	Generalized hypotonia
6660	SOX5	HP:0100807	Long fingers
6660	SOX5	HP:0001270	Motor delay
6660	SOX5	HP:0001250	Seizure
6660	SOX5	HP:0001252	Hypotonia
6660	SOX5	HP:0001249	Intellectual disability
6660	SOX5	HP:0001263	Global developmental delay
6660	SOX5	HP:0000078	Abnormality of the genital system
6660	SOX5	HP:0000006	Autosomal dominant inheritance
6660	SOX5	HP:0002650	Scoliosis
6660	SOX5	HP:0000189	Narrow palate
6660	SOX5	HP:0000194	Open mouth
6660	SOX5	HP:0002711	Exaggerated median tongue furrow
6660	SOX5	HP:0002020	Gastroesophageal reflux
6660	SOX5	HP:0004691	2-3 toe syndactyly
6660	SOX5	HP:0002007	Frontal bossing
6660	SOX5	HP:0003316	Butterfly vertebrae
6660	SOX5	HP:0100716	Self-injurious behavior
6660	SOX5	HP:0007018	Attention deficit hyperactivity disorder
6660	SOX5	HP:0011968	Feeding difficulties
6660	SOX5	HP:0430028	Hyperplasia of the maxilla
6660	SOX5	HP:0008428	Vertebral clefting
6660	SOX5	HP:0000648	Optic atrophy
6660	SOX5	HP:0000678	Dental crowding
6660	SOX5	HP:0005659	Thoracic kyphoscoliosis
6660	SOX5	HP:0000768	Pectus carinatum
6660	SOX5	HP:0000739	Anxiety
6660	SOX5	HP:0000733	Abnormal repetitive mannerisms
6660	SOX5	HP:0000750	Delayed speech and language development
6660	SOX5	HP:0000718	Aggressive behavior
6660	SOX5	HP:0000286	Epicanthus
6660	SOX5	HP:0030084	Clinodactyly
6660	SOX5	HP:0002938	Lumbar hyperlordosis
6660	SOX5	HP:0002948	Vertebral fusion
6660	SOX5	HP:0000358	Posteriorly rotated ears
6660	SOX5	HP:0000369	Low-set ears
6660	SOX5	HP:0001653	Mitral regurgitation
6660	SOX5	HP:0000324	Facial asymmetry
6660	SOX5	HP:0005280	Depressed nasal bridge
6660	SOX5	HP:0000486	Strabismus
6660	SOX5	HP:0000494	Downslanted palpebral fissures
6660	SOX5	HP:0012443	Abnormality of brain morphology
6660	SOX5	HP:0001763	Pes planus
6660	SOX5	HP:0000414	Bulbous nose
6660	SOX5	HP:0000431	Wide nasal bridge
6660	SOX5	HP:0001845	Overlapping toe
6660	SOX5	HP:0001847	Long hallux
6660	SOX5	HP:0000577	Exotropia
6660	SOX5	HP:0000545	Myopia
6662	SOX9	HP:0002414	Spina bifida
6662	SOX9	HP:0001250	Seizure
6662	SOX9	HP:0001252	Hypotonia
6662	SOX9	HP:0001263	Global developmental delay
6662	SOX9	HP:0008726	Hypoplasia of the vagina
6662	SOX9	HP:0008730	Female external genitalia in individual with 46,XY karyotype
6662	SOX9	HP:0008734	Decreased testicular size
6662	SOX9	HP:0008736	Hypoplasia of penis
6662	SOX9	HP:0008715	Testicular dysgenesis
6662	SOX9	HP:0008665	Clitoral hypertrophy
6662	SOX9	HP:0000062	Ambiguous genitalia
6662	SOX9	HP:0000058	Abnormal labia morphology
6662	SOX9	HP:0000044	Hypogonadotropic hypogonadism
6662	SOX9	HP:0000046	Small scrotum
6662	SOX9	HP:0000045	Abnormality of the scrotum
6662	SOX9	HP:0000037	Male pseudohermaphroditism
6662	SOX9	HP:0000054	Micropenis
6662	SOX9	HP:0001388	Joint laxity
6662	SOX9	HP:0000048	Bifid scrotum
6662	SOX9	HP:0000047	Hypospadias
6662	SOX9	HP:0000022	Abnormal male internal genitalia morphology
6662	SOX9	HP:0000030	Testicular gonadoblastoma
6662	SOX9	HP:0000026	Male hypogonadism
6662	SOX9	HP:0000028	Cryptorchidism
6662	SOX9	HP:0000027	Azoospermia
6662	SOX9	HP:0008873	Disproportionate short-limb short stature
6662	SOX9	HP:0008821	Hypoplastic inferior ilia
6662	SOX9	HP:0002663	Delayed epiphyseal ossification
6662	SOX9	HP:0000008	Abnormal morphology of female internal genitalia
6662	SOX9	HP:0002667	Nephroblastoma
6662	SOX9	HP:0000006	Autosomal dominant inheritance
6662	SOX9	HP:0002650	Scoliosis
6662	SOX9	HP:0002643	Neonatal respiratory distress
6662	SOX9	HP:0008921	Neonatal short-limb short stature
6662	SOX9	HP:0000160	Narrow mouth
6662	SOX9	HP:0000162	Glossoptosis
6662	SOX9	HP:0000176	Submucous cleft hard palate
6662	SOX9	HP:0000175	Cleft palate
6662	SOX9	HP:0000142	Abnormal vagina morphology
6662	SOX9	HP:0000144	Decreased fertility
6662	SOX9	HP:0000150	Gonadoblastoma
6662	SOX9	HP:0000147	Polycystic ovaries
6662	SOX9	HP:0000149	Ovarian gonadoblastoma
6662	SOX9	HP:0002783	Recurrent lower respiratory tract infections
6662	SOX9	HP:0002781	Upper airway obstruction
6662	SOX9	HP:0002779	Tracheomalacia
6662	SOX9	HP:0000133	Gonadal dysgenesis
6662	SOX9	HP:0000130	Abnormality of the uterus
6662	SOX9	HP:0002788	Recurrent upper respiratory tract infections
6662	SOX9	HP:0002786	Tracheobronchomalacia
6662	SOX9	HP:0000126	Hydronephrosis
6662	SOX9	HP:0032538	Pretibial dimple
6662	SOX9	HP:0000100	Nephrotic syndrome
6662	SOX9	HP:0002757	Recurrent fractures
6662	SOX9	HP:0002751	Kyphoscoliosis
6662	SOX9	HP:0002750	Delayed skeletal maturation
6662	SOX9	HP:0002007	Frontal bossing
6662	SOX9	HP:0011800	Midface retrusion
6662	SOX9	HP:0002098	Respiratory distress
6662	SOX9	HP:0002093	Respiratory insufficiency
6662	SOX9	HP:0008193	Primary gonadal insufficiency
6662	SOX9	HP:0008187	Absence of secondary sex characteristics
6662	SOX9	HP:0010464	Streak ovary
6662	SOX9	HP:0010459	True hermaphroditism
6662	SOX9	HP:0002119	Ventriculomegaly
6662	SOX9	HP:0002104	Apnea
6662	SOX9	HP:0011910	Shortening of all phalanges of fingers
6662	SOX9	HP:0008232	Elevated circulating follicle stimulating hormone level
6662	SOX9	HP:0008214	Decreased serum estradiol
6662	SOX9	HP:0003577	Congenital onset
6662	SOX9	HP:0002215	Sparse axillary hair
6662	SOX9	HP:0002225	Sparse pubic hair
6662	SOX9	HP:0100779	Urogenital sinus anomaly
6662	SOX9	HP:0009697	Contracture of the distal interphalangeal joint of the fingers
6662	SOX9	HP:0007036	Hypoplasia of olfactory tract
6662	SOX9	HP:0010646	Cervical spine instability
6662	SOX9	HP:0011968	Feeding difficulties
6662	SOX9	HP:0011969	Elevated circulating luteinizing hormone level
6662	SOX9	HP:0009803	Short phalanx of finger
6662	SOX9	HP:0008477	Poorly ossified cervical vertebrae
6662	SOX9	HP:0010781	Skin dimple
6662	SOX9	HP:0008434	Hypoplastic cervical vertebrae
6662	SOX9	HP:0000600	Abnormality of the pharynx
6662	SOX9	HP:0010034	Short 1st metacarpal
6662	SOX9	HP:0011343	Moderate global developmental delay
6662	SOX9	HP:0011342	Mild global developmental delay
6662	SOX9	HP:0000670	Carious teeth
6662	SOX9	HP:0004322	Short stature
6662	SOX9	HP:0030674	Antenatal onset
6662	SOX9	HP:0030680	Abnormality of cardiovascular system morphology
6662	SOX9	HP:0003083	Dislocated radial head
6662	SOX9	HP:0003065	Patellar hypoplasia
6662	SOX9	HP:0003038	Fibular hypoplasia
6662	SOX9	HP:0003026	Short long bone
6662	SOX9	HP:0012745	Short palpebral fissure
6662	SOX9	HP:0000771	Gynecomastia
6662	SOX9	HP:0000768	Pectus carinatum
6662	SOX9	HP:0000774	Narrow chest
6662	SOX9	HP:0000786	Primary amenorrhea
6662	SOX9	HP:0004408	Abnormality of the sense of smell
6662	SOX9	HP:0004482	Relative macrocephaly
6662	SOX9	HP:0000882	Hypoplastic scapulae
6662	SOX9	HP:0012870	Vanishing testis
6662	SOX9	HP:0000878	11 pairs of ribs
6662	SOX9	HP:0012856	Abnormal scrotal rugation
6662	SOX9	HP:0000883	Thin ribs
6662	SOX9	HP:0000868	Decreased fertility in females
6662	SOX9	HP:0000837	Increased circulating gonadotropin level
6662	SOX9	HP:0000846	Adrenal insufficiency
6662	SOX9	HP:0000815	Hypergonadotropic hypogonadism
6662	SOX9	HP:0000812	Abnormal internal genitalia
6662	SOX9	HP:0000823	Delayed puberty
6662	SOX9	HP:0040079	Irregular dentition
6662	SOX9	HP:0003251	Male infertility
6662	SOX9	HP:0010307	Stridor
6662	SOX9	HP:0010301	Spinal dysraphism
6662	SOX9	HP:0000939	Osteoporosis
6662	SOX9	HP:0040171	Decreased serum testosterone concentration
6662	SOX9	HP:0000286	Epicanthus
6662	SOX9	HP:0000260	Wide anterior fontanel
6662	SOX9	HP:0000256	Macrocephaly
6662	SOX9	HP:0000274	Small face
6662	SOX9	HP:0012244	Abnormal sex determination
6662	SOX9	HP:0012245	Sex reversal
6662	SOX9	HP:0002827	Hip dislocation
6662	SOX9	HP:0002808	Kyphosis
6662	SOX9	HP:0006390	Anterior tibial bowing
6662	SOX9	HP:0005035	Shortening of all phalanges of the toes
6662	SOX9	HP:0000238	Hydrocephalus
6662	SOX9	HP:0000218	High palate
6662	SOX9	HP:0001561	Polyhydramnios
6662	SOX9	HP:0002868	Narrow iliac wing
6662	SOX9	HP:0002866	Hypoplastic iliac wing
6662	SOX9	HP:0001508	Failure to thrive
6662	SOX9	HP:0012368	Flat face
6662	SOX9	HP:0005257	Thoracic hypoplasia
6662	SOX9	HP:0006584	Small abnormally formed scapulae
6662	SOX9	HP:0001601	Laryngomalacia
6662	SOX9	HP:0002947	Cervical kyphosis
6662	SOX9	HP:0002943	Thoracic scoliosis
6662	SOX9	HP:0006487	Bowing of the long bones
6662	SOX9	HP:0000365	Hearing impairment
6662	SOX9	HP:0000369	Low-set ears
6662	SOX9	HP:0000343	Long philtrum
6662	SOX9	HP:0000348	High forehead
6662	SOX9	HP:0000347	Micrognathia
6662	SOX9	HP:0002982	Tibial bowing
6662	SOX9	HP:0002980	Femoral bowing
6662	SOX9	HP:0000316	Hypertelorism
6662	SOX9	HP:0001627	Abnormal heart morphology
6662	SOX9	HP:0006628	Absent sternal ossification
6662	SOX9	HP:0000405	Conductive hearing impairment
6662	SOX9	HP:0005280	Depressed nasal bridge
6662	SOX9	HP:0000457	Depressed nasal ridge
6662	SOX9	HP:0000470	Short neck
6662	SOX9	HP:0001799	Short nail
6662	SOX9	HP:0001763	Pes planus
6662	SOX9	HP:0001776	Bilateral talipes equinovarus
6662	SOX9	HP:0001762	Talipes equinovarus
6662	SOX9	HP:0001840	Metatarsus adductus
6662	SOX9	HP:0000520	Proptosis
6662	SOX9	HP:0001822	Hallux valgus
6662	SOX9	HP:0000581	Blepharophimosis
6662	SOX9	HP:0000545	Myopia
6663	SOX10	HP:0002460	Distal muscle weakness
6663	SOX10	HP:0001107	Ocular albinism
6663	SOX10	HP:0001103	Abnormal macular morphology
6663	SOX10	HP:0007266	Cerebral dysmyelination
6663	SOX10	HP:0007256	Abnormal pyramidal sign
6663	SOX10	HP:0001100	Heterochromia iridis
6663	SOX10	HP:0001276	Hypertonia
6663	SOX10	HP:0001288	Gait disturbance
6663	SOX10	HP:0001284	Areflexia
6663	SOX10	HP:0001250	Seizure
6663	SOX10	HP:0001252	Hypotonia
6663	SOX10	HP:0001251	Ataxia
6663	SOX10	HP:0001249	Intellectual disability
6663	SOX10	HP:0001265	Hyporeflexia
6663	SOX10	HP:0002595	Ileus
6663	SOX10	HP:0001260	Dysarthria
6663	SOX10	HP:0001263	Global developmental delay
6663	SOX10	HP:0001257	Spasticity
6663	SOX10	HP:0001259	Coma
6663	SOX10	HP:0008734	Decreased testicular size
6663	SOX10	HP:0008736	Hypoplasia of penis
6663	SOX10	HP:0002510	Spastic tetraplegia
6663	SOX10	HP:0000077	Abnormality of the kidney
6663	SOX10	HP:0000044	Hypogonadotropic hypogonadism
6663	SOX10	HP:0000054	Micropenis
6663	SOX10	HP:0000028	Cryptorchidism
6663	SOX10	HP:0001324	Muscle weakness
6663	SOX10	HP:0001341	Olfactory lobe agenesis
6663	SOX10	HP:0000008	Abnormal morphology of female internal genitalia
6663	SOX10	HP:0001335	Bimanual synkinesia
6663	SOX10	HP:0001337	Tremor
6663	SOX10	HP:0000006	Autosomal dominant inheritance
6663	SOX10	HP:0001336	Myoclonus
6663	SOX10	HP:0002652	Skeletal dysplasia
6663	SOX10	HP:0001319	Neonatal hypotonia
6663	SOX10	HP:0002617	Vascular dilatation
6663	SOX10	HP:0000175	Cleft palate
6663	SOX10	HP:0000144	Decreased fertility
6663	SOX10	HP:0000135	Hypogonadism
6663	SOX10	HP:0007676	Hypoplasia of the iris
6663	SOX10	HP:0008936	Axial hypotonia
6663	SOX10	HP:0002757	Recurrent fractures
6663	SOX10	HP:0001433	Hepatosplenomegaly
6663	SOX10	HP:0000104	Renal agenesis
6663	SOX10	HP:0001409	Portal hypertension
6663	SOX10	HP:0002750	Delayed skeletal maturation
6663	SOX10	HP:0002019	Constipation
6663	SOX10	HP:0002027	Abdominal pain
6663	SOX10	HP:0002059	Cerebral atrophy
6663	SOX10	HP:0010550	Paraplegia
6663	SOX10	HP:0003577	Congenital onset
6663	SOX10	HP:0002242	Abnormal intestine morphology
6663	SOX10	HP:0002240	Hepatomegaly
6663	SOX10	HP:0002251	Aganglionic megacolon
6663	SOX10	HP:0002216	Premature graying of hair
6663	SOX10	HP:0002227	White eyelashes
6663	SOX10	HP:0002226	White eyebrow
6663	SOX10	HP:0002211	White forelock
6663	SOX10	HP:0001053	Hypopigmented skin patches
6663	SOX10	HP:0003693	Distal amyotrophy
6663	SOX10	HP:0002313	Spastic paraparesis
6663	SOX10	HP:0009830	Peripheral neuropathy
6663	SOX10	HP:0009804	Tooth agenesis
6663	SOX10	HP:0100639	Erectile dysfunction
6663	SOX10	HP:0007108	Demyelinating peripheral neuropathy
6663	SOX10	HP:0003623	Neonatal onset
6663	SOX10	HP:0007182	Peripheral hypomyelination
6663	SOX10	HP:0006808	Cerebral hypomyelination
6663	SOX10	HP:0005599	Hypopigmentation of hair
6663	SOX10	HP:0000639	Nystagmus
6663	SOX10	HP:0000635	Blue irides
6663	SOX10	HP:0000633	Decreased lacrimation
6663	SOX10	HP:0011379	Dilated vestibule of the inner ear
6663	SOX10	HP:0011382	Hypoplasia of the semicircular canal
6663	SOX10	HP:0011381	Aplasia of the semicircular canal
6663	SOX10	HP:0011376	Morphological abnormality of the vestibule of the inner ear
6663	SOX10	HP:0000664	Synophrys
6663	SOX10	HP:0004336	Myelin outfoldings
6663	SOX10	HP:0006978	Dysmyelinating leukodystrophy
6663	SOX10	HP:0030680	Abnormality of cardiovascular system morphology
6663	SOX10	HP:0004388	Microcolon
6663	SOX10	HP:0004349	Reduced bone mineral density
6663	SOX10	HP:0000771	Gynecomastia
6663	SOX10	HP:0000767	Pectus excavatum
6663	SOX10	HP:0000762	Decreased nerve conduction velocity
6663	SOX10	HP:0011461	Fetal onset
6663	SOX10	HP:0000786	Primary amenorrhea
6663	SOX10	HP:0004414	Abnormality of the pulmonary artery
6663	SOX10	HP:0004409	Hyposmia
6663	SOX10	HP:0003187	Breast hypoplasia
6663	SOX10	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
6663	SOX10	HP:0004463	Absent brainstem auditory responses
6663	SOX10	HP:0000830	Anterior hypopituitarism
6663	SOX10	HP:0000823	Delayed puberty
6663	SOX10	HP:0000957	Cafe-au-lait spot
6663	SOX10	HP:0000966	Hypohidrosis
6663	SOX10	HP:0008064	Ichthyosis
6663	SOX10	HP:0011675	Arrhythmia
6663	SOX10	HP:0007703	Abnormality of retinal pigmentation
6663	SOX10	HP:0007730	Iris hypopigmentation
6663	SOX10	HP:0007732	Lacrimal gland hypoplasia
6663	SOX10	HP:0002804	Arthrogryposis multiplex congenita
6663	SOX10	HP:0001558	Decreased fetal movement
6663	SOX10	HP:0030016	Dyspareunia
6663	SOX10	HP:0001510	Growth delay
6663	SOX10	HP:0001513	Obesity
6663	SOX10	HP:0011096	Peripheral demyelination
6663	SOX10	HP:0007894	Hypopigmentation of the fundus
6663	SOX10	HP:0005214	Intestinal obstruction
6663	SOX10	HP:0001608	Abnormality of the voice
6663	SOX10	HP:0002936	Distal sensory impairment
6663	SOX10	HP:0000365	Hearing impairment
6663	SOX10	HP:0000366	Abnormality of the nose
6663	SOX10	HP:0012332	Abnormal autonomic nervous system physiology
6663	SOX10	HP:0000407	Sensorineural hearing impairment
6663	SOX10	HP:0000478	Abnormality of the eye
6663	SOX10	HP:0000458	Anosmia
6663	SOX10	HP:0000473	Torticollis
6663	SOX10	HP:0001763	Pes planus
6663	SOX10	HP:0001744	Splenomegaly
6663	SOX10	HP:0000431	Wide nasal bridge
6663	SOX10	HP:0000430	Underdeveloped nasal alae
6663	SOX10	HP:0001761	Pes cavus
6663	SOX10	HP:0000426	Prominent nasal bridge
6663	SOX10	HP:0011284	Short-segment aganglionic megacolon
6663	SOX10	HP:0011285	Long-segment aganglionic megacolon
6663	SOX10	HP:0000522	Alacrima
6663	SOX10	HP:0000506	Telecanthus
6663	SOX10	HP:0000508	Ptosis
6663	SOX10	HP:0000505	Visual impairment
6663	SOX10	HP:0000504	Abnormality of vision
6663	SOX10	HP:0000534	Abnormal eyebrow morphology
6663	SOX10	HP:0000551	Color vision defect
6663	SOX10	HP:0000545	Myopia
6664	SOX11	HP:0009928	Thick nasal alae
6664	SOX11	HP:0009891	Underdeveloped supraorbital ridges
6664	SOX11	HP:0010864	Intellectual disability, severe
6664	SOX11	HP:0009882	Short distal phalanx of finger
6664	SOX11	HP:0009879	Simplified gyral pattern
6664	SOX11	HP:0001274	Agenesis of corpus callosum
6664	SOX11	HP:0001256	Intellectual disability, mild
6664	SOX11	HP:0001250	Seizure
6664	SOX11	HP:0001252	Hypotonia
6664	SOX11	HP:0002553	Highly arched eyebrow
6664	SOX11	HP:0000085	Horseshoe kidney
6664	SOX11	HP:0001388	Joint laxity
6664	SOX11	HP:0000047	Hypospadias
6664	SOX11	HP:0000028	Cryptorchidism
6664	SOX11	HP:0008897	Postnatal growth retardation
6664	SOX11	HP:0000013	Hypoplasia of the uterus
6664	SOX11	HP:0001344	Absent speech
6664	SOX11	HP:0000006	Autosomal dominant inheritance
6664	SOX11	HP:0001305	Dandy-Walker malformation
6664	SOX11	HP:0002650	Scoliosis
6664	SOX11	HP:0000179	Thick lower lip vermilion
6664	SOX11	HP:0000194	Open mouth
6664	SOX11	HP:0000154	Wide mouth
6664	SOX11	HP:0008947	Infantile muscular hypotonia
6664	SOX11	HP:0000119	Abnormality of the genitourinary system
6664	SOX11	HP:0002788	Recurrent upper respiratory tract infections
6664	SOX11	HP:0002750	Delayed skeletal maturation
6664	SOX11	HP:0002719	Recurrent infections
6664	SOX11	HP:0002033	Poor suck
6664	SOX11	HP:0011800	Midface retrusion
6664	SOX11	HP:0011937	Hypoplastic fifth toenail
6664	SOX11	HP:0004712	Renal malrotation
6664	SOX11	HP:0002209	Sparse scalp hair
6664	SOX11	HP:0100790	Hernia
6664	SOX11	HP:0011968	Feeding difficulties
6664	SOX11	HP:0011951	Aspiration pneumonia
6664	SOX11	HP:0008398	Hypoplastic fifth fingernail
6664	SOX11	HP:0002342	Intellectual disability, moderate
6664	SOX11	HP:0001007	Hirsutism
6664	SOX11	HP:0009765	Low hanging columella
6664	SOX11	HP:0003623	Neonatal onset
6664	SOX11	HP:0000684	Delayed eruption of teeth
6664	SOX11	HP:0001999	Abnormal facial shape
6664	SOX11	HP:0004322	Short stature
6664	SOX11	HP:0012745	Short palpebral fissure
6664	SOX11	HP:0000752	Hyperactivity
6664	SOX11	HP:0000718	Aggressive behavior
6664	SOX11	HP:0000729	Autistic behavior
6664	SOX11	HP:0000708	Atypical behavior
6664	SOX11	HP:0011463	Childhood onset
6664	SOX11	HP:0003196	Short nose
6664	SOX11	HP:0003189	Long nose
6664	SOX11	HP:0012810	Wide nasal base
6664	SOX11	HP:0000824	Decreased response to growth hormone stimulation test
6664	SOX11	HP:0000823	Delayed puberty
6664	SOX11	HP:0009237	Short 5th finger
6664	SOX11	HP:0000998	Hypertrichosis
6664	SOX11	HP:0000280	Coarse facial features
6664	SOX11	HP:0000293	Full cheeks
6664	SOX11	HP:0000294	Low anterior hairline
6664	SOX11	HP:0000289	Broad philtrum
6664	SOX11	HP:0030084	Clinodactyly
6664	SOX11	HP:0000252	Microcephaly
6664	SOX11	HP:0002884	Hepatoblastoma
6664	SOX11	HP:0000219	Thin upper lip vermilion
6664	SOX11	HP:0000218	High palate
6664	SOX11	HP:0002895	Papillary thyroid carcinoma
6664	SOX11	HP:0000232	Everted lower lip vermilion
6664	SOX11	HP:0001511	Intrauterine growth retardation
6664	SOX11	HP:0001510	Growth delay
6664	SOX11	HP:0000365	Hearing impairment
6664	SOX11	HP:0000358	Posteriorly rotated ears
6664	SOX11	HP:0000369	Low-set ears
6664	SOX11	HP:0001643	Patent ductus arteriosus
6664	SOX11	HP:0000331	Short chin
6664	SOX11	HP:0000322	Short philtrum
6664	SOX11	HP:0001629	Ventricular septal defect
6664	SOX11	HP:0001627	Abnormal heart morphology
6664	SOX11	HP:0001636	Tetralogy of Fallot
6664	SOX11	HP:0001631	Atrial septal defect
6664	SOX11	HP:0005280	Depressed nasal bridge
6664	SOX11	HP:0000486	Strabismus
6664	SOX11	HP:0012471	Thick vermilion border
6664	SOX11	HP:0001792	Small nail
6664	SOX11	HP:0000463	Anteverted nares
6664	SOX11	HP:0000455	Broad nasal tip
6664	SOX11	HP:0000430	Underdeveloped nasal alae
6664	SOX11	HP:0000527	Long eyelashes
6664	SOX11	HP:0000508	Ptosis
6664	SOX11	HP:0000505	Visual impairment
6664	SOX11	HP:0011231	Prominent eyelashes
6664	SOX11	HP:0000574	Thick eyebrow
6664	SOX11	HP:0012523	Oral aversion
6664	SOX11	HP:0000545	Myopia
6674	SPAG1	HP:0025177	Peribronchovascular interstitial thickening
6674	SPAG1	HP:0002566	Intestinal malrotation
6674	SPAG1	HP:0001217	Clubbing
6674	SPAG1	HP:0000007	Autosomal recessive inheritance
6674	SPAG1	HP:0002643	Neonatal respiratory distress
6674	SPAG1	HP:0000119	Abnormality of the genitourinary system
6674	SPAG1	HP:0032543	Lithoptysis
6674	SPAG1	HP:0031245	Productive cough
6674	SPAG1	HP:0002011	Morphological central nervous system abnormality
6674	SPAG1	HP:0100582	Nasal polyposis
6674	SPAG1	HP:0002119	Ventriculomegaly
6674	SPAG1	HP:0002110	Bronchiectasis
6674	SPAG1	HP:0008222	Female infertility
6674	SPAG1	HP:0002257	Chronic rhinitis
6674	SPAG1	HP:0002205	Recurrent respiratory infections
6674	SPAG1	HP:0100750	Atelectasis
6674	SPAG1	HP:0032016	Abnormal sputum
6674	SPAG1	HP:0011947	Respiratory tract infection
6674	SPAG1	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
6674	SPAG1	HP:0010772	Anomalous pulmonary venous return
6674	SPAG1	HP:0030680	Abnormality of cardiovascular system morphology
6674	SPAG1	HP:0000750	Delayed speech and language development
6674	SPAG1	HP:0000924	Abnormality of the skeletal system
6674	SPAG1	HP:0004469	Chronic bronchitis
6674	SPAG1	HP:0011539	Atrial situs ambiguous
6674	SPAG1	HP:0011535	Abnormal atrial arrangement
6674	SPAG1	HP:0030828	Wheezing
6674	SPAG1	HP:0003251	Male infertility
6674	SPAG1	HP:0011617	Pulmonary situs ambiguus
6674	SPAG1	HP:0033036	Decreased nasal nitric oxide
6674	SPAG1	HP:0025576	Abnormal inferior vena cava morphology
6674	SPAG1	HP:0012265	Ciliary dyskinesia
6674	SPAG1	HP:0012255	Dynein arm defect of respiratory motile cilia
6674	SPAG1	HP:0000238	Hydrocephalus
6674	SPAG1	HP:0012206	Abnormal sperm motility
6674	SPAG1	HP:0002878	Respiratory failure
6674	SPAG1	HP:0012384	Rhinitis
6674	SPAG1	HP:0000389	Chronic otitis media
6674	SPAG1	HP:0006536	Airway obstruction
6674	SPAG1	HP:0001696	Situs inversus totalis
6674	SPAG1	HP:0000365	Hearing impairment
6674	SPAG1	HP:0001669	Transposition of the great arteries
6674	SPAG1	HP:0031456	Ectopic pregnancy
6674	SPAG1	HP:0001627	Abnormal heart morphology
6674	SPAG1	HP:0005301	Persistent left superior vena cava
6674	SPAG1	HP:0000403	Recurrent otitis media
6674	SPAG1	HP:0000405	Conductive hearing impairment
6674	SPAG1	HP:0001719	Double outlet right ventricle
6674	SPAG1	HP:0011109	Chronic sinusitis
6674	SPAG1	HP:0011108	Recurrent sinusitis
6674	SPAG1	HP:0001746	Asplenia
6674	SPAG1	HP:0001748	Polysplenia
6674	SPAG1	HP:0001742	Nasal congestion
6674	SPAG1	HP:0005425	Recurrent sinopulmonary infections
6674	SPAG1	HP:0011274	Recurrent mycobacterial infections
6674	SPAG1	HP:0000510	Rod-cone dystrophy
6678	SPARC	HP:0001270	Motor delay
6678	SPARC	HP:0001252	Hypotonia
6678	SPARC	HP:0006086	Thin metacarpal cortices
6678	SPARC	HP:0001324	Muscle weakness
6678	SPARC	HP:0000007	Autosomal recessive inheritance
6678	SPARC	HP:0002650	Scoliosis
6678	SPARC	HP:0000164	Abnormality of the dentition
6678	SPARC	HP:0004322	Short stature
6678	SPARC	HP:0000750	Delayed speech and language development
6678	SPARC	HP:0030746	Intraventricular hemorrhage
6678	SPARC	HP:0003199	Decreased muscle mass
6678	SPARC	HP:0000926	Platyspondyly
6678	SPARC	HP:0000977	Soft skin
6678	SPARC	HP:0000939	Osteoporosis
6678	SPARC	HP:0000364	Hearing abnormality
6678	SPARC	HP:0002953	Vertebral compression fracture
6683	SPAST	HP:0003743	Genetic anticipation
6683	SPAST	HP:0001250	Seizure
6683	SPAST	HP:0001251	Ataxia
6683	SPAST	HP:0001249	Intellectual disability
6683	SPAST	HP:0001260	Dysarthria
6683	SPAST	HP:0001258	Spastic paraplegia
6683	SPAST	HP:0001257	Spasticity
6683	SPAST	HP:0007350	Hyperreflexia in upper limbs
6683	SPAST	HP:0007340	Lower limb muscle weakness
6683	SPAST	HP:0003828	Variable expressivity
6683	SPAST	HP:0000020	Urinary incontinence
6683	SPAST	HP:0001348	Brisk reflexes
6683	SPAST	HP:0001347	Hyperreflexia
6683	SPAST	HP:0000012	Urinary urgency
6683	SPAST	HP:0000006	Autosomal dominant inheritance
6683	SPAST	HP:0008969	Leg muscle stiffness
6683	SPAST	HP:0100543	Cognitive impairment
6683	SPAST	HP:0002064	Spastic gait
6683	SPAST	HP:0002061	Lower limb spasticity
6683	SPAST	HP:0003487	Babinski sign
6683	SPAST	HP:0003419	Low back pain
6683	SPAST	HP:0002166	Impaired vibration sensation in the lower limbs
6683	SPAST	HP:0010550	Paraplegia
6683	SPAST	HP:0003587	Insidious onset
6683	SPAST	HP:0003693	Distal amyotrophy
6683	SPAST	HP:0003676	Progressive
6683	SPAST	HP:0002354	Memory impairment
6683	SPAST	HP:0002314	Degeneration of the lateral corticospinal tracts
6683	SPAST	HP:0000639	Nystagmus
6683	SPAST	HP:0004302	Functional motor deficit
6683	SPAST	HP:0006938	Impaired vibration sensation at ankles
6683	SPAST	HP:0000734	Disinhibition
6683	SPAST	HP:0000741	Apathy
6683	SPAST	HP:0000716	Depression
6683	SPAST	HP:0000718	Aggressive behavior
6683	SPAST	HP:0000713	Agitation
6683	SPAST	HP:0000726	Dementia
6683	SPAST	HP:0011448	Ankle clonus
6683	SPAST	HP:0002839	Urinary bladder sphincter dysfunction
6683	SPAST	HP:0001761	Pes cavus
6687	SPG7	HP:0002497	Spastic ataxia
6687	SPG7	HP:0002493	Upper motor neuron dysfunction
6687	SPG7	HP:0002464	Spastic dysarthria
6687	SPG7	HP:0007256	Abnormal pyramidal sign
6687	SPG7	HP:0010873	Cervical spinal cord atrophy
6687	SPG7	HP:0001272	Cerebellar atrophy
6687	SPG7	HP:0001260	Dysarthria
6687	SPG7	HP:0001258	Spastic paraplegia
6687	SPG7	HP:0001257	Spasticity
6687	SPG7	HP:0007340	Lower limb muscle weakness
6687	SPG7	HP:0002515	Waddling gait
6687	SPG7	HP:0002500	Abnormal cerebral white matter morphology
6687	SPG7	HP:0000020	Urinary incontinence
6687	SPG7	HP:0001350	Slurred speech
6687	SPG7	HP:0001347	Hyperreflexia
6687	SPG7	HP:0001328	Specific learning disability
6687	SPG7	HP:0001324	Muscle weakness
6687	SPG7	HP:0000012	Urinary urgency
6687	SPG7	HP:0000007	Autosomal recessive inheritance
6687	SPG7	HP:0000006	Autosomal dominant inheritance
6687	SPG7	HP:0001310	Dysmetria
6687	SPG7	HP:0002650	Scoliosis
6687	SPG7	HP:0002015	Dysphagia
6687	SPG7	HP:0100543	Cognitive impairment
6687	SPG7	HP:0002066	Gait ataxia
6687	SPG7	HP:0002064	Spastic gait
6687	SPG7	HP:0002061	Lower limb spasticity
6687	SPG7	HP:0002075	Dysdiadochokinesis
6687	SPG7	HP:0003474	Somatic sensory dysfunction
6687	SPG7	HP:0003487	Babinski sign
6687	SPG7	HP:0003484	Upper limb muscle weakness
6687	SPG7	HP:0002120	Cerebral cortical atrophy
6687	SPG7	HP:0002127	Abnormal upper motor neuron morphology
6687	SPG7	HP:0003444	EMG: chronic denervation signs
6687	SPG7	HP:0002166	Impaired vibration sensation in the lower limbs
6687	SPG7	HP:0002172	Postural instability
6687	SPG7	HP:0010549	Weakness due to upper motor neuron dysfunction
6687	SPG7	HP:0003581	Adult onset
6687	SPG7	HP:0003552	Muscle stiffness
6687	SPG7	HP:0002200	Pseudobulbar signs
6687	SPG7	HP:0007034	Generalized hyperreflexia
6687	SPG7	HP:0007018	Attention deficit hyperactivity disorder
6687	SPG7	HP:0007002	Motor axonal neuropathy
6687	SPG7	HP:0008322	Abnormal mitochondrial morphology
6687	SPG7	HP:0002395	Lower limb hyperreflexia
6687	SPG7	HP:0002366	Abnormal lower motor neuron morphology
6687	SPG7	HP:0002371	Loss of speech
6687	SPG7	HP:0002354	Memory impairment
6687	SPG7	HP:0002314	Degeneration of the lateral corticospinal tracts
6687	SPG7	HP:0200049	Upper limb hypertonia
6687	SPG7	HP:0007164	Slowed slurred speech
6687	SPG7	HP:0007199	Progressive spastic paraparesis
6687	SPG7	HP:0006827	Atrophy of the spinal cord
6687	SPG7	HP:0006895	Lower limb hypertonia
6687	SPG7	HP:0000639	Nystagmus
6687	SPG7	HP:0000648	Optic atrophy
6687	SPG7	HP:0000605	Supranuclear gaze palsy
6687	SPG7	HP:0011446	Abnormality of higher mental function
6687	SPG7	HP:0003200	Ragged-red muscle fibers
6687	SPG7	HP:0002839	Urinary bladder sphincter dysfunction
6687	SPG7	HP:0001611	Hypernasal speech
6687	SPG7	HP:0000365	Hearing impairment
6687	SPG7	HP:0001761	Pes cavus
6687	SPG7	HP:0000511	Vertical supranuclear gaze palsy
6687	SPG7	HP:0012514	Lower limb pain
6687	SPG7	HP:0000543	Optic disc pallor
6688	SPI1	HP:0410255	Transient neutropenia
6688	SPI1	HP:0001287	Meningitis
6688	SPI1	HP:0000006	Autosomal dominant inheritance
6688	SPI1	HP:0002720	Decreased circulating IgA level
6688	SPI1	HP:0003577	Congenital onset
6688	SPI1	HP:0002205	Recurrent respiratory infections
6688	SPI1	HP:0100651	Type I diabetes mellitus
6688	SPI1	HP:0004315	Decreased circulating IgG level
6688	SPI1	HP:0004432	Agammaglobulinemia
6688	SPI1	HP:0002850	Decreased circulating total IgM
6688	SPI1	HP:0011108	Recurrent sinusitis
6688	SPI1	HP:0030252	Absent circulating B cells
6689	SPIB	HP:0001278	Orthostatic hypotension
6689	SPIB	HP:0001262	Excessive daytime somnolence
6689	SPIB	HP:0001399	Hepatic failure
6689	SPIB	HP:0001395	Hepatic fibrosis
6689	SPIB	HP:0001394	Cirrhosis
6689	SPIB	HP:0002613	Biliary cirrhosis
6689	SPIB	HP:0002608	Celiac disease
6689	SPIB	HP:0012115	Hepatitis
6689	SPIB	HP:0001409	Portal hypertension
6689	SPIB	HP:0001402	Hepatocellular carcinoma
6689	SPIB	HP:0003496	Increased circulating IgM level
6689	SPIB	HP:0003493	Antinuclear antibody positivity
6689	SPIB	HP:0011971	Dermatographic urticaria
6689	SPIB	HP:0002360	Sleep disturbance
6689	SPIB	HP:0003073	Hypoalbuminemia
6689	SPIB	HP:0004386	Gastrointestinal inflammation
6689	SPIB	HP:0003119	Abnormal circulating lipid concentration
6689	SPIB	HP:0003155	Elevated circulating alkaline phosphatase concentration
6689	SPIB	HP:0000820	Abnormality of the thyroid gland
6689	SPIB	HP:0003270	Abdominal distention
6689	SPIB	HP:0003261	Increased circulating IgA level
6689	SPIB	HP:0000989	Pruritus
6689	SPIB	HP:0000953	Hyperpigmentation of the skin
6689	SPIB	HP:0000952	Jaundice
6689	SPIB	HP:0000939	Osteoporosis
6689	SPIB	HP:0012203	Onychomycosis
6689	SPIB	HP:0001541	Ascites
6689	SPIB	HP:0002841	Recurrent fungal infections
6689	SPIB	HP:0012378	Fatigue
6689	SPIB	HP:0011040	Abnormal intrahepatic bile duct morphology
6689	SPIB	HP:0002908	Conjugated hyperbilirubinemia
6689	SPIB	HP:0002960	Autoimmunity
6690	SPINK1	HP:0002570	Steatorrhea
6690	SPINK1	HP:0000007	Autosomal recessive inheritance
6690	SPINK1	HP:0000006	Autosomal dominant inheritance
6690	SPINK1	HP:0410019	Epigastric pain
6690	SPINK1	HP:0006280	Chronic pancreatitis
6690	SPINK1	HP:0002018	Nausea
6690	SPINK1	HP:0002027	Abdominal pain
6690	SPINK1	HP:0030992	Abnormal pancreatic duct morphology
6690	SPINK1	HP:0002013	Vomiting
6690	SPINK1	HP:0008205	Insulin-dependent but ketosis-resistant diabetes
6690	SPINK1	HP:0002202	Pleural effusion
6690	SPINK1	HP:0009800	Maternal diabetes
6690	SPINK1	HP:0001977	Abnormal thrombosis
6690	SPINK1	HP:0001974	Leukocytosis
6690	SPINK1	HP:0001945	Fever
6690	SPINK1	HP:0004395	Malnutrition
6690	SPINK1	HP:0100027	Recurrent pancreatitis
6690	SPINK1	HP:0000819	Diabetes mellitus
6690	SPINK1	HP:0000952	Jaundice
6690	SPINK1	HP:0002894	Neoplasm of the pancreas
6690	SPINK1	HP:0012379	Abnormal circulating enzyme concentration or activity
6690	SPINK1	HP:0005236	Chronic calcifying pancreatitis
6690	SPINK1	HP:0005213	Pancreatic calcification
6690	SPINK1	HP:0005206	Pancreatic pseudocyst
6690	SPINK1	HP:0001738	Exocrine pancreatic insufficiency
6690	SPINK1	HP:0001733	Pancreatitis
6690	SPINK1	HP:0030247	Splanchnic vein thrombosis
6690	SPINK1	HP:0006725	Pancreatic adenocarcinoma
6690	SPINK1	HP:0001824	Weight loss
6690	SPINK1	HP:0011227	Elevated circulating C-reactive protein concentration
6691	SPINK2	HP:0000007	Autosomal recessive inheritance
6691	SPINK2	HP:0011961	Non-obstructive azoospermia
6691	SPINK2	HP:0011462	Young adult onset
6691	SPINK2	HP:0003251	Male infertility
6691	SPINK2	HP:0012208	Immotile sperm
6696	SPP1	HP:0002463	Language impairment
6696	SPP1	HP:0001250	Seizure
6696	SPP1	HP:0007417	Discoid lupus rash
6696	SPP1	HP:0000083	Renal insufficiency
6696	SPP1	HP:0000093	Proteinuria
6696	SPP1	HP:0000079	Abnormality of the urinary system
6696	SPP1	HP:0025343	Lupus anticoagulant
6696	SPP1	HP:0001369	Arthritis
6696	SPP1	HP:0025300	Malar rash
6696	SPP1	HP:0001324	Muscle weakness
6696	SPP1	HP:0025435	Increased circulating lactate dehydrogenase concentration
6696	SPP1	HP:0000155	Oral ulcer
6696	SPP1	HP:0000123	Nephritis
6696	SPP1	HP:0000100	Nephrotic syndrome
6696	SPP1	HP:0002716	Lymphadenopathy
6696	SPP1	HP:0002725	Systemic lupus erythematosus
6696	SPP1	HP:0002027	Abdominal pain
6696	SPP1	HP:0040319	Dark urine
6696	SPP1	HP:0002014	Diarrhea
6696	SPP1	HP:0002013	Vomiting
6696	SPP1	HP:0002086	Abnormality of the respiratory system
6696	SPP1	HP:0100543	Cognitive impairment
6696	SPP1	HP:0002094	Dyspnea
6696	SPP1	HP:0003453	Antineutrophil antibody positivity
6696	SPP1	HP:0003493	Antinuclear antibody positivity
6696	SPP1	HP:0003565	Elevated erythrocyte sedimentation rate
6696	SPP1	HP:0002202	Pleural effusion
6696	SPP1	HP:0100749	Chest pain
6696	SPP1	HP:0002315	Headache
6696	SPP1	HP:0100614	Myositis
6696	SPP1	HP:0002301	Hemiplegia
6696	SPP1	HP:0003613	Antiphospholipid antibody positivity
6696	SPP1	HP:0001945	Fever
6696	SPP1	HP:0001937	Microangiopathic hemolytic anemia
6696	SPP1	HP:0004372	Reduced consciousness/confusion
6696	SPP1	HP:0000709	Psychosis
6696	SPP1	HP:0000707	Abnormality of the nervous system
6696	SPP1	HP:0000790	Hematuria
6696	SPP1	HP:0030880	Raynaud phenomenon
6696	SPP1	HP:0045042	Decreased circulating complement C4 concentration
6696	SPP1	HP:0003270	Abdominal distention
6696	SPP1	HP:0000988	Skin rash
6696	SPP1	HP:0000951	Abnormality of the skin
6696	SPP1	HP:0000969	Edema
6696	SPP1	HP:0001596	Alopecia
6696	SPP1	HP:0002829	Arthralgia
6696	SPP1	HP:0001541	Ascites
6696	SPP1	HP:0011024	Abnormality of the gastrointestinal tract
6696	SPP1	HP:0001698	Pericardial effusion
6696	SPP1	HP:0005421	Decreased circulating complement C3 concentration
6696	SPP1	HP:0001888	Lymphopenia
6696	SPP1	HP:0001882	Leukopenia
6696	SPP1	HP:0001873	Thrombocytopenia
6697	SPR	HP:0001270	Motor delay
6697	SPR	HP:0001250	Seizure
6697	SPR	HP:0001251	Ataxia
6697	SPR	HP:0001249	Intellectual disability
6697	SPR	HP:0001266	Choreoathetosis
6697	SPR	HP:0001260	Dysarthria
6697	SPR	HP:0001263	Global developmental delay
6697	SPR	HP:0001257	Spasticity
6697	SPR	HP:0003828	Variable expressivity
6697	SPR	HP:0002509	Limb hypertonia
6697	SPR	HP:0001347	Hyperreflexia
6697	SPR	HP:0001332	Dystonia
6697	SPR	HP:0001324	Muscle weakness
6697	SPR	HP:0000007	Autosomal recessive inheritance
6697	SPR	HP:0001337	Tremor
6697	SPR	HP:0000006	Autosomal dominant inheritance
6697	SPR	HP:0008936	Axial hypotonia
6697	SPR	HP:0005968	Temperature instability
6697	SPR	HP:0100543	Cognitive impairment
6697	SPR	HP:0002067	Bradykinesia
6697	SPR	HP:0002063	Rigidity
6697	SPR	HP:0010553	Oculogyric crisis
6697	SPR	HP:0008297	Transient hyperphenylalaninemia
6697	SPR	HP:0003593	Infantile onset
6697	SPR	HP:0002360	Sleep disturbance
6697	SPR	HP:0002329	Drowsiness
6697	SPR	HP:0004923	Hyperphenylalaninemia
6697	SPR	HP:0000657	Oculomotor apraxia
6697	SPR	HP:0000752	Hyperactivity
6697	SPR	HP:0100021	Cerebral palsy
6697	SPR	HP:0000750	Delayed speech and language development
6697	SPR	HP:0000718	Aggressive behavior
6697	SPR	HP:0000708	Atypical behavior
6697	SPR	HP:0000975	Hyperhidrosis
6697	SPR	HP:0000252	Microcephaly
6697	SPR	HP:0001518	Small for gestational age
6697	SPR	HP:0001510	Growth delay
6697	SPR	HP:0000366	Abnormality of the nose
6697	SPR	HP:0000338	Hypomimic face
6697	SPR	HP:0000508	Ptosis
6708	SPTA1	HP:0025143	Chills
6708	SPTA1	HP:0001251	Ataxia
6708	SPTA1	HP:0008897	Postnatal growth retardation
6708	SPTA1	HP:0001324	Muscle weakness
6708	SPTA1	HP:0000007	Autosomal recessive inheritance
6708	SPTA1	HP:0000006	Autosomal dominant inheritance
6708	SPTA1	HP:0002027	Abdominal pain
6708	SPTA1	HP:0003326	Myalgia
6708	SPTA1	HP:0002007	Frontal bossing
6708	SPTA1	HP:0011900	Hypofibrinogenemia
6708	SPTA1	HP:0002240	Hepatomegaly
6708	SPTA1	HP:0100724	Hypercoagulability
6708	SPTA1	HP:0004839	Pyropoikilocytosis
6708	SPTA1	HP:0004835	Microspherocytosis
6708	SPTA1	HP:0004804	Congenital hemolytic anemia
6708	SPTA1	HP:0200042	Skin ulcer
6708	SPTA1	HP:0001081	Cholelithiasis
6708	SPTA1	HP:0005525	Spontaneous hemolytic crises
6708	SPTA1	HP:0005502	Increased red cell osmotic fragility
6708	SPTA1	HP:0001978	Extramedullary hematopoiesis
6708	SPTA1	HP:0001945	Fever
6708	SPTA1	HP:0001923	Reticulocytosis
6708	SPTA1	HP:0001903	Anemia
6708	SPTA1	HP:0001997	Gout
6708	SPTA1	HP:0004446	Stomatocytosis
6708	SPTA1	HP:0004445	Elliptocytosis
6708	SPTA1	HP:0004444	Spherocytosis
6708	SPTA1	HP:0004447	Poikilocytosis
6708	SPTA1	HP:0003270	Abdominal distention
6708	SPTA1	HP:0003265	Neonatal hyperbilirubinemia
6708	SPTA1	HP:0000980	Pallor
6708	SPTA1	HP:0000952	Jaundice
6708	SPTA1	HP:0040186	Maculopapular exanthema
6708	SPTA1	HP:0025548	Increased mean corpuscular hemoglobin concentration
6708	SPTA1	HP:0001510	Growth delay
6708	SPTA1	HP:0006579	Prolonged neonatal jaundice
6708	SPTA1	HP:0002904	Hyperbilirubinemia
6708	SPTA1	HP:0001723	Restrictive cardiomyopathy
6708	SPTA1	HP:0001789	Hydrops fetalis
6708	SPTA1	HP:0001744	Splenomegaly
6708	SPTA1	HP:0001878	Hemolytic anemia
6708	SPTA1	HP:0001877	Abnormal erythrocyte morphology
6709	SPTAN1	HP:0010864	Intellectual disability, severe
6709	SPTAN1	HP:0001290	Generalized hypotonia
6709	SPTAN1	HP:0001272	Cerebellar atrophy
6709	SPTAN1	HP:0001250	Seizure
6709	SPTAN1	HP:0001252	Hypotonia
6709	SPTAN1	HP:0007366	Atrophy/Degeneration affecting the brainstem
6709	SPTAN1	HP:0002521	Hypsarrhythmia
6709	SPTAN1	HP:0002510	Spastic tetraplegia
6709	SPTAN1	HP:0001347	Hyperreflexia
6709	SPTAN1	HP:0000006	Autosomal dominant inheritance
6709	SPTAN1	HP:0001336	Myoclonus
6709	SPTAN1	HP:0002020	Gastroesophageal reflux
6709	SPTAN1	HP:0002079	Hypoplasia of the corpus callosum
6709	SPTAN1	HP:0002059	Cerebral atrophy
6709	SPTAN1	HP:0002120	Cerebral cortical atrophy
6709	SPTAN1	HP:0003429	CNS hypomyelination
6709	SPTAN1	HP:0002187	Intellectual disability, profound
6709	SPTAN1	HP:0003593	Infantile onset
6709	SPTAN1	HP:0200134	Epileptic encephalopathy
6709	SPTAN1	HP:0002376	Developmental regression
6709	SPTAN1	HP:0000707	Abnormality of the nervous system
6709	SPTAN1	HP:0034295	Reduced cerebral white matter volume
6709	SPTAN1	HP:0000253	Progressive microcephaly
6709	SPTAN1	HP:0000252	Microcephaly
6709	SPTAN1	HP:0012469	Infantile spasms
6709	SPTAN1	HP:0011121	Abnormality of skin morphology
6710	SPTB	HP:0025143	Chills
6710	SPTB	HP:0001251	Ataxia
6710	SPTB	HP:0008897	Postnatal growth retardation
6710	SPTB	HP:0001324	Muscle weakness
6710	SPTB	HP:0000006	Autosomal dominant inheritance
6710	SPTB	HP:0002027	Abdominal pain
6710	SPTB	HP:0003326	Myalgia
6710	SPTB	HP:0002007	Frontal bossing
6710	SPTB	HP:0011900	Hypofibrinogenemia
6710	SPTB	HP:0002240	Hepatomegaly
6710	SPTB	HP:0004870	Chronic hemolytic anemia
6710	SPTB	HP:0100724	Hypercoagulability
6710	SPTB	HP:0004839	Pyropoikilocytosis
6710	SPTB	HP:0004804	Congenital hemolytic anemia
6710	SPTB	HP:0001046	Intermittent jaundice
6710	SPTB	HP:0025066	Decreased mean corpuscular volume
6710	SPTB	HP:0200042	Skin ulcer
6710	SPTB	HP:0001081	Cholelithiasis
6710	SPTB	HP:0005525	Spontaneous hemolytic crises
6710	SPTB	HP:0005502	Increased red cell osmotic fragility
6710	SPTB	HP:0001978	Extramedullary hematopoiesis
6710	SPTB	HP:0001945	Fever
6710	SPTB	HP:0001927	Acanthocytosis
6710	SPTB	HP:0001923	Reticulocytosis
6710	SPTB	HP:0001903	Anemia
6710	SPTB	HP:0001997	Gout
6710	SPTB	HP:0004446	Stomatocytosis
6710	SPTB	HP:0004445	Elliptocytosis
6710	SPTB	HP:0004444	Spherocytosis
6710	SPTB	HP:0004447	Poikilocytosis
6710	SPTB	HP:0003270	Abdominal distention
6710	SPTB	HP:0003265	Neonatal hyperbilirubinemia
6710	SPTB	HP:0000980	Pallor
6710	SPTB	HP:0000952	Jaundice
6710	SPTB	HP:0040186	Maculopapular exanthema
6710	SPTB	HP:0025548	Increased mean corpuscular hemoglobin concentration
6710	SPTB	HP:0001510	Growth delay
6710	SPTB	HP:0006579	Prolonged neonatal jaundice
6710	SPTB	HP:0002904	Hyperbilirubinemia
6710	SPTB	HP:0001723	Restrictive cardiomyopathy
6710	SPTB	HP:0001789	Hydrops fetalis
6710	SPTB	HP:0001744	Splenomegaly
6710	SPTB	HP:0001878	Hemolytic anemia
6710	SPTB	HP:0001877	Abnormal erythrocyte morphology
6711	SPTBN1	HP:0002478	Progressive spastic quadriplegia
6711	SPTBN1	HP:0001118	Juvenile cataract
6711	SPTBN1	HP:0008619	Bilateral sensorineural hearing impairment
6711	SPTBN1	HP:0020221	Clonic seizure
6711	SPTBN1	HP:0010862	Delayed fine motor development
6711	SPTBN1	HP:0009884	Tapered distal phalanges of finger
6711	SPTBN1	HP:0002415	Leukodystrophy
6711	SPTBN1	HP:0003763	Bruxism
6711	SPTBN1	HP:0003764	Nevus
6711	SPTBN1	HP:0001276	Hypertonia
6711	SPTBN1	HP:0001271	Polyneuropathy
6711	SPTBN1	HP:0001270	Motor delay
6711	SPTBN1	HP:0002599	Head titubation
6711	SPTBN1	HP:0025232	Bursitis
6711	SPTBN1	HP:0001250	Seizure
6711	SPTBN1	HP:0001252	Hypotonia
6711	SPTBN1	HP:0001251	Ataxia
6711	SPTBN1	HP:0001249	Intellectual disability
6711	SPTBN1	HP:0001264	Spastic diplegia
6711	SPTBN1	HP:0001263	Global developmental delay
6711	SPTBN1	HP:0001257	Spasticity
6711	SPTBN1	HP:0008760	Violent behavior
6711	SPTBN1	HP:0008762	Repetitive compulsive behavior
6711	SPTBN1	HP:0008751	Laryngeal cleft
6711	SPTBN1	HP:0007359	Focal-onset seizure
6711	SPTBN1	HP:0002521	Hypsarrhythmia
6711	SPTBN1	HP:0002527	Falls
6711	SPTBN1	HP:0002510	Spastic tetraplegia
6711	SPTBN1	HP:0025386	Bitemporal hollowing
6711	SPTBN1	HP:0001397	Hepatic steatosis
6711	SPTBN1	HP:0000054	Micropenis
6711	SPTBN1	HP:0001388	Joint laxity
6711	SPTBN1	HP:0000048	Bifid scrotum
6711	SPTBN1	HP:0000047	Hypospadias
6711	SPTBN1	HP:0001348	Brisk reflexes
6711	SPTBN1	HP:0001357	Plagiocephaly
6711	SPTBN1	HP:0001332	Dystonia
6711	SPTBN1	HP:0032408	Breast mass
6711	SPTBN1	HP:0001344	Absent speech
6711	SPTBN1	HP:0000006	Autosomal dominant inheritance
6711	SPTBN1	HP:0002650	Scoliosis
6711	SPTBN1	HP:0000152	Abnormality of head or neck
6711	SPTBN1	HP:0500093	Food allergy
6711	SPTBN1	HP:0410018	Recurrent ear infections
6711	SPTBN1	HP:0002705	High, narrow palate
6711	SPTBN1	HP:0002754	Osteomyelitis
6711	SPTBN1	HP:0001438	Abnormal abdomen morphology
6711	SPTBN1	HP:0002719	Recurrent infections
6711	SPTBN1	HP:0002019	Constipation
6711	SPTBN1	HP:0002033	Poor suck
6711	SPTBN1	HP:0002027	Abdominal pain
6711	SPTBN1	HP:0002013	Vomiting
6711	SPTBN1	HP:0100540	Palpebral edema
6711	SPTBN1	HP:0002080	Intention tremor
6711	SPTBN1	HP:0100543	Cognitive impairment
6711	SPTBN1	HP:0002057	Prominent glabella
6711	SPTBN1	HP:0002119	Ventriculomegaly
6711	SPTBN1	HP:0002136	Broad-based gait
6711	SPTBN1	HP:0003418	Back pain
6711	SPTBN1	HP:0002180	Neurodegeneration
6711	SPTBN1	HP:0002169	Clonus
6711	SPTBN1	HP:0010529	Echolalia
6711	SPTBN1	HP:0010522	Dyslexia
6711	SPTBN1	HP:0100710	Impulsivity
6711	SPTBN1	HP:0100767	Abnormal placenta morphology
6711	SPTBN1	HP:0010674	Abnormality of the curvature of the vertebral column
6711	SPTBN1	HP:0007018	Attention deficit hyperactivity disorder
6711	SPTBN1	HP:0011968	Feeding difficulties
6711	SPTBN1	HP:0001067	Neurofibromas
6711	SPTBN1	HP:0002360	Sleep disturbance
6711	SPTBN1	HP:0002376	Developmental regression
6711	SPTBN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6711	SPTBN1	HP:0001010	Hypopigmentation of the skin
6711	SPTBN1	HP:0002353	EEG abnormality
6711	SPTBN1	HP:0001000	Abnormality of skin pigmentation
6711	SPTBN1	HP:0010841	Multifocal epileptiform discharges
6711	SPTBN1	HP:0010812	Short uvula
6711	SPTBN1	HP:0002307	Drooling
6711	SPTBN1	HP:0004944	Dilatation of the cerebral artery
6711	SPTBN1	HP:0004942	Aortic aneurysm
6711	SPTBN1	HP:0000637	Long palpebral fissure
6711	SPTBN1	HP:0000612	Iris coloboma
6711	SPTBN1	HP:0001945	Fever
6711	SPTBN1	HP:0001954	Recurrent fever
6711	SPTBN1	HP:0001999	Abnormal facial shape
6711	SPTBN1	HP:0000664	Synophrys
6711	SPTBN1	HP:0004325	Decreased body weight
6711	SPTBN1	HP:0031951	Nocturnal seizures
6711	SPTBN1	HP:0031987	Diminished ability to concentrate
6711	SPTBN1	HP:0000752	Hyperactivity
6711	SPTBN1	HP:0000771	Gynecomastia
6711	SPTBN1	HP:0100021	Cerebral palsy
6711	SPTBN1	HP:0100022	Abnormality of movement
6711	SPTBN1	HP:0100033	Tics
6711	SPTBN1	HP:0000737	Irritability
6711	SPTBN1	HP:0000739	Anxiety
6711	SPTBN1	HP:0000736	Short attention span
6711	SPTBN1	HP:0000735	Impaired social interactions
6711	SPTBN1	HP:0000750	Delayed speech and language development
6711	SPTBN1	HP:0000716	Depression
6711	SPTBN1	HP:0000718	Aggressive behavior
6711	SPTBN1	HP:0000717	Autism
6711	SPTBN1	HP:0000712	Emotional lability
6711	SPTBN1	HP:0000713	Agitation
6711	SPTBN1	HP:0000729	Autistic behavior
6711	SPTBN1	HP:0000723	Restrictive behavior
6711	SPTBN1	HP:0000707	Abnormality of the nervous system
6711	SPTBN1	HP:0000790	Hematuria
6711	SPTBN1	HP:0003196	Short nose
6711	SPTBN1	HP:0000924	Abnormality of the skeletal system
6711	SPTBN1	HP:0000823	Delayed puberty
6711	SPTBN1	HP:0010296	Ankyloglossia
6711	SPTBN1	HP:0000995	Melanocytic nevus
6711	SPTBN1	HP:0000954	Single transverse palmar crease
6711	SPTBN1	HP:0000952	Jaundice
6711	SPTBN1	HP:0008071	Maternal hypertension
6711	SPTBN1	HP:0000280	Coarse facial features
6711	SPTBN1	HP:0000293	Full cheeks
6711	SPTBN1	HP:0000289	Broad philtrum
6711	SPTBN1	HP:0000256	Macrocephaly
6711	SPTBN1	HP:0000268	Dolichocephaly
6711	SPTBN1	HP:0002808	Kyphosis
6711	SPTBN1	HP:0001574	Abnormality of the integument
6711	SPTBN1	HP:0000239	Large fontanelles
6711	SPTBN1	HP:0000238	Hydrocephalus
6711	SPTBN1	HP:0000252	Microcephaly
6711	SPTBN1	HP:0000219	Thin upper lip vermilion
6711	SPTBN1	HP:0000218	High palate
6711	SPTBN1	HP:0025502	Overweight
6711	SPTBN1	HP:0002857	Genu valgum
6711	SPTBN1	HP:0001508	Failure to thrive
6711	SPTBN1	HP:0030051	Tip-toe gait
6711	SPTBN1	HP:0001511	Intrauterine growth retardation
6711	SPTBN1	HP:0001513	Obesity
6711	SPTBN1	HP:0011096	Peripheral demyelination
6711	SPTBN1	HP:0012393	Allergy
6711	SPTBN1	HP:0012378	Fatigue
6711	SPTBN1	HP:0000378	Cupped ear
6711	SPTBN1	HP:0000388	Otitis media
6711	SPTBN1	HP:0001609	Hoarse voice
6711	SPTBN1	HP:0030185	Isometric tremor
6711	SPTBN1	HP:0002910	Elevated hepatic transaminase
6711	SPTBN1	HP:0002904	Hyperbilirubinemia
6711	SPTBN1	HP:0000365	Hearing impairment
6711	SPTBN1	HP:0000341	Narrow forehead
6711	SPTBN1	HP:0000337	Broad forehead
6711	SPTBN1	HP:0000348	High forehead
6711	SPTBN1	HP:0000319	Smooth philtrum
6711	SPTBN1	HP:0001647	Bicuspid aortic valve
6711	SPTBN1	HP:0000316	Hypertelorism
6711	SPTBN1	HP:0030148	Heart murmur
6711	SPTBN1	HP:0001659	Aortic regurgitation
6711	SPTBN1	HP:0000322	Short philtrum
6711	SPTBN1	HP:0001629	Ventricular septal defect
6711	SPTBN1	HP:0001626	Abnormality of the cardiovascular system
6711	SPTBN1	HP:0001635	Congestive heart failure
6711	SPTBN1	HP:0000307	Pointed chin
6711	SPTBN1	HP:0000300	Oval face
6711	SPTBN1	HP:0012498	Nuchal cord
6711	SPTBN1	HP:0032988	Persistent head lag
6711	SPTBN1	HP:0000486	Strabismus
6711	SPTBN1	HP:0012469	Infantile spasms
6711	SPTBN1	HP:0012471	Thick vermilion border
6711	SPTBN1	HP:0000478	Abnormality of the eye
6711	SPTBN1	HP:0000490	Deeply set eye
6711	SPTBN1	HP:0000463	Anteverted nares
6711	SPTBN1	HP:0012448	Delayed myelination
6711	SPTBN1	HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration
6711	SPTBN1	HP:0000473	Torticollis
6711	SPTBN1	HP:0031589	Suicidal ideation
6711	SPTBN1	HP:0000437	Depressed nasal tip
6711	SPTBN1	HP:0000414	Bulbous nose
6711	SPTBN1	HP:0000411	Protruding ear
6711	SPTBN1	HP:0001762	Talipes equinovarus
6711	SPTBN1	HP:0000431	Wide nasal bridge
6711	SPTBN1	HP:0000518	Cataract
6711	SPTBN1	HP:0000520	Proptosis
6711	SPTBN1	HP:0000582	Upslanted palpebral fissure
6711	SPTBN1	HP:0011229	Broad eyebrow
6711	SPTBN1	HP:0000589	Coloboma
6711	SPTBN1	HP:0000572	Visual loss
6711	SPTBN1	HP:0000574	Thick eyebrow
6711	SPTBN1	HP:0000567	Chorioretinal coloboma
6712	SPTBN2	HP:0002495	Impaired vibratory sensation
6712	SPTBN2	HP:0002493	Upper motor neuron dysfunction
6712	SPTBN2	HP:0007240	Progressive gait ataxia
6712	SPTBN2	HP:0001290	Generalized hypotonia
6712	SPTBN2	HP:0001272	Cerebellar atrophy
6712	SPTBN2	HP:0001270	Motor delay
6712	SPTBN2	HP:0001288	Gait disturbance
6712	SPTBN2	HP:0001256	Intellectual disability, mild
6712	SPTBN2	HP:0001252	Hypotonia
6712	SPTBN2	HP:0001260	Dysarthria
6712	SPTBN2	HP:0001263	Global developmental delay
6712	SPTBN2	HP:0001257	Spasticity
6712	SPTBN2	HP:0001350	Slurred speech
6712	SPTBN2	HP:0001347	Hyperreflexia
6712	SPTBN2	HP:0000007	Autosomal recessive inheritance
6712	SPTBN2	HP:0000006	Autosomal dominant inheritance
6712	SPTBN2	HP:0001310	Dysmetria
6712	SPTBN2	HP:0002080	Intention tremor
6712	SPTBN2	HP:0100543	Cognitive impairment
6712	SPTBN2	HP:0002066	Gait ataxia
6712	SPTBN2	HP:0002078	Truncal ataxia
6712	SPTBN2	HP:0002075	Dysdiadochokinesis
6712	SPTBN2	HP:0002073	Progressive cerebellar ataxia
6712	SPTBN2	HP:0002070	Limb ataxia
6712	SPTBN2	HP:0003593	Infantile onset
6712	SPTBN2	HP:0003677	Slowly progressive
6712	SPTBN2	HP:0002317	Unsteady gait
6712	SPTBN2	HP:0002311	Incoordination
6712	SPTBN2	HP:0000640	Gaze-evoked nystagmus
6712	SPTBN2	HP:0000639	Nystagmus
6712	SPTBN2	HP:0000651	Diplopia
6712	SPTBN2	HP:0000641	Dysmetric saccades
6712	SPTBN2	HP:0000666	Horizontal nystagmus
6712	SPTBN2	HP:0000750	Delayed speech and language development
6712	SPTBN2	HP:0008003	Jerky ocular pursuit movements
6712	SPTBN2	HP:0007772	Impaired smooth pursuit
6712	SPTBN2	HP:0000317	Facial myokymia
6712	SPTBN2	HP:0000486	Strabismus
6712	SPTBN2	HP:0000571	Hypometric saccades
6714	SRC	HP:0031020	Bone marrow hypercellularity
6714	SRC	HP:0000006	Autosomal dominant inheritance
6714	SRC	HP:0001428	Somatic mutation
6714	SRC	HP:0002003	Large forehead
6714	SRC	HP:0011974	Myelofibrosis
6714	SRC	HP:0005584	Renal cell carcinoma
6714	SRC	HP:0000601	Hypotelorism
6714	SRC	HP:0004406	Spontaneous, recurrent epistaxis
6714	SRC	HP:0000939	Osteoporosis
6714	SRC	HP:0002891	Uterine leiomyosarcoma
6714	SRC	HP:0000490	Deeply set eye
6714	SRC	HP:0006753	Neoplasm of the stomach
6714	SRC	HP:0006740	Transitional cell carcinoma of the bladder
6714	SRC	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
6714	SRC	HP:0001892	Abnormal bleeding
6714	SRC	HP:0001873	Thrombocytopenia
6716	SRD5A2	HP:0008736	Hypoplasia of penis
6716	SRD5A2	HP:0032382	Uniparental disomy
6716	SRD5A2	HP:0000062	Ambiguous genitalia
6716	SRD5A2	HP:0000046	Small scrotum
6716	SRD5A2	HP:0000054	Micropenis
6716	SRD5A2	HP:0000051	Perineal hypospadias
6716	SRD5A2	HP:0000048	Bifid scrotum
6716	SRD5A2	HP:0000033	Ambiguous genitalia, male
6716	SRD5A2	HP:0000028	Cryptorchidism
6716	SRD5A2	HP:0000007	Autosomal recessive inheritance
6716	SRD5A2	HP:0000144	Decreased fertility
6716	SRD5A2	HP:0100779	Urogenital sinus anomaly
6716	SRD5A2	HP:0001939	Abnormality of metabolism/homeostasis
6716	SRD5A2	HP:0000818	Abnormality of the endocrine system
6716	SRD5A2	HP:0001595	Abnormal hair morphology
6716	SRD5A2	HP:0001608	Abnormality of the voice
6718	AKR1D1	HP:0002570	Steatorrhea
6718	AKR1D1	HP:0001397	Hepatic steatosis
6718	AKR1D1	HP:0001396	Cholestasis
6718	AKR1D1	HP:0001399	Hepatic failure
6718	AKR1D1	HP:0008897	Postnatal growth retardation
6718	AKR1D1	HP:0000007	Autosomal recessive inheritance
6718	AKR1D1	HP:0002630	Fat malabsorption
6718	AKR1D1	HP:0025435	Increased circulating lactate dehydrogenase concentration
6718	AKR1D1	HP:0000107	Renal cyst
6718	AKR1D1	HP:0001406	Intrahepatic cholestasis
6718	AKR1D1	HP:0002748	Rickets
6718	AKR1D1	HP:0030984	Abnormal serum bile acid concentration
6718	AKR1D1	HP:0040319	Dark urine
6718	AKR1D1	HP:0002014	Diarrhea
6718	AKR1D1	HP:0100513	Low levels of vitamin E
6718	AKR1D1	HP:0008151	Prolonged prothrombin time
6718	AKR1D1	HP:0002240	Hepatomegaly
6718	AKR1D1	HP:0200084	Giant cell hepatitis
6718	AKR1D1	HP:0003645	Prolonged partial thromboplastin time
6718	AKR1D1	HP:0003623	Neonatal onset
6718	AKR1D1	HP:0001978	Extramedullary hematopoiesis
6718	AKR1D1	HP:0003155	Elevated circulating alkaline phosphatase concentration
6718	AKR1D1	HP:0003256	Abnormality of the coagulation cascade
6718	AKR1D1	HP:0000952	Jaundice
6718	AKR1D1	HP:0001508	Failure to thrive
6718	AKR1D1	HP:0012379	Abnormal circulating enzyme concentration or activity
6718	AKR1D1	HP:0011040	Abnormal intrahepatic bile duct morphology
6718	AKR1D1	HP:0006579	Prolonged neonatal jaundice
6718	AKR1D1	HP:0002910	Elevated hepatic transaminase
6718	AKR1D1	HP:0002908	Conjugated hyperbilirubinemia
6718	AKR1D1	HP:0002904	Hyperbilirubinemia
6718	AKR1D1	HP:0001744	Splenomegaly
6720	SREBF1	HP:0001181	Adducted thumb
6720	SREBF1	HP:0009926	Epiphora
6720	SREBF1	HP:0100806	Sepsis
6720	SREBF1	HP:0001249	Intellectual disability
6720	SREBF1	HP:0500262	Atrichia
6720	SREBF1	HP:0007502	Follicular hyperkeratosis
6720	SREBF1	HP:0000006	Autosomal dominant inheritance
6720	SREBF1	HP:0031291	Ichthyosis follicularis
6720	SREBF1	HP:0002728	Chronic mucocutaneous candidiasis
6720	SREBF1	HP:0002019	Constipation
6720	SREBF1	HP:0002017	Nausea and vomiting
6720	SREBF1	HP:0002027	Abdominal pain
6720	SREBF1	HP:0002028	Chronic diarrhea
6720	SREBF1	HP:0002014	Diarrhea
6720	SREBF1	HP:0033194	Perioral erythema
6720	SREBF1	HP:0002090	Pneumonia
6720	SREBF1	HP:0034418	Erythematous oral mucosa
6720	SREBF1	HP:0002164	Nail dysplasia
6720	SREBF1	HP:0003577	Congenital onset
6720	SREBF1	HP:0002251	Aganglionic megacolon
6720	SREBF1	HP:0002249	Melena
6720	SREBF1	HP:0002208	Coarse hair
6720	SREBF1	HP:0008404	Nail dystrophy
6720	SREBF1	HP:0008396	Chronic monilial nail infection
6720	SREBF1	HP:0200008	Intestinal polyposis
6720	SREBF1	HP:0001096	Keratoconjunctivitis
6720	SREBF1	HP:0001097	Keratoconjunctivitis sicca
6720	SREBF1	HP:0032152	Keratosis pilaris
6720	SREBF1	HP:0000639	Nystagmus
6720	SREBF1	HP:0000618	Blindness
6720	SREBF1	HP:0000613	Photophobia
6720	SREBF1	HP:0004322	Short stature
6720	SREBF1	HP:0100031	Neoplasm of the thyroid gland
6720	SREBF1	HP:0012719	Functional abnormality of the gastrointestinal tract
6720	SREBF1	HP:0011496	Corneal neovascularization
6720	SREBF1	HP:0000790	Hematuria
6720	SREBF1	HP:0008070	Sparse hair
6720	SREBF1	HP:0001596	Alopecia
6720	SREBF1	HP:0031417	Rhinorrhea
6720	SREBF1	HP:0007759	Opacification of the corneal stroma
6720	SREBF1	HP:0000221	Furrowed tongue
6720	SREBF1	HP:0001531	Failure to thrive in infancy
6720	SREBF1	HP:0005214	Intestinal obstruction
6720	SREBF1	HP:0006552	Fibrocystic lung disease
6720	SREBF1	HP:0006532	Recurrent pneumonia
6720	SREBF1	HP:0000365	Hearing impairment
6720	SREBF1	HP:0001648	Cor pulmonale
6720	SREBF1	HP:0025610	Posterior blepharitis
6720	SREBF1	HP:0030318	Angular cheilitis
6720	SREBF1	HP:0000407	Sensorineural hearing impairment
6720	SREBF1	HP:0000486	Strabismus
6720	SREBF1	HP:0000491	Keratitis
6720	SREBF1	HP:0000518	Cataract
6720	SREBF1	HP:0001824	Weight loss
6720	SREBF1	HP:0000565	Esotropia
6720	SREBF1	HP:0001880	Eosinophilia
6729	SRP54	HP:0001167	Abnormal finger morphology
6729	SRP54	HP:0410255	Transient neutropenia
6729	SRP54	HP:0410252	Chronic neutropenia
6729	SRP54	HP:0100806	Sepsis
6729	SRP54	HP:0001256	Intellectual disability, mild
6729	SRP54	HP:0001249	Intellectual disability
6729	SRP54	HP:0002594	Pancreatic hypoplasia
6729	SRP54	HP:0001263	Global developmental delay
6729	SRP54	HP:0002570	Steatorrhea
6729	SRP54	HP:0410289	Hypoamylasemia
6729	SRP54	HP:0001367	Abnormal joint morphology
6729	SRP54	HP:0008872	Feeding difficulties in infancy
6729	SRP54	HP:0001328	Specific learning disability
6729	SRP54	HP:0000007	Autosomal recessive inheritance
6729	SRP54	HP:0000006	Autosomal dominant inheritance
6729	SRP54	HP:0002643	Neonatal respiratory distress
6729	SRP54	HP:0002630	Fat malabsorption
6729	SRP54	HP:0025452	Pyoderma gangrenosum
6729	SRP54	HP:0025439	Pharyngitis
6729	SRP54	HP:0000155	Oral ulcer
6729	SRP54	HP:0410018	Recurrent ear infections
6729	SRP54	HP:0000121	Nephrocalcinosis
6729	SRP54	HP:0002754	Osteomyelitis
6729	SRP54	HP:0002750	Delayed skeletal maturation
6729	SRP54	HP:0002719	Recurrent infections
6729	SRP54	HP:0002718	Recurrent bacterial infections
6729	SRP54	HP:0002721	Immunodeficiency
6729	SRP54	HP:0002027	Abdominal pain
6729	SRP54	HP:0002014	Diarrhea
6729	SRP54	HP:0003300	Ovoid vertebral bodies
6729	SRP54	HP:0002098	Respiratory distress
6729	SRP54	HP:0002090	Pneumonia
6729	SRP54	HP:0003375	Narrow greater sciatic notch
6729	SRP54	HP:0100512	Low levels of vitamin D
6729	SRP54	HP:0100513	Low levels of vitamin E
6729	SRP54	HP:0003453	Antineutrophil antibody positivity
6729	SRP54	HP:0004798	Recurrent infection of the gastrointestinal tract
6729	SRP54	HP:0003411	Proximal femoral metaphyseal irregularity
6729	SRP54	HP:0011904	Persistence of hemoglobin F
6729	SRP54	HP:0011892	Low levels of vitamin K
6729	SRP54	HP:0002240	Hepatomegaly
6729	SRP54	HP:0010701	Abnormal immunoglobulin level
6729	SRP54	HP:0004808	Acute myeloid leukemia
6729	SRP54	HP:0001028	Hemangioma
6729	SRP54	HP:0004979	Metaphyseal sclerosis
6729	SRP54	HP:0100658	Cellulitis
6729	SRP54	HP:0004905	Low levels of vitamin A
6729	SRP54	HP:0005528	Bone marrow hypocellularity
6729	SRP54	HP:0005518	Increased mean corpuscular volume
6729	SRP54	HP:0001972	Macrocytic anemia
6729	SRP54	HP:0001945	Fever
6729	SRP54	HP:0001909	Leukemia
6729	SRP54	HP:0001903	Anemia
6729	SRP54	HP:0001915	Aplastic anemia
6729	SRP54	HP:0000684	Delayed eruption of teeth
6729	SRP54	HP:0000670	Carious teeth
6729	SRP54	HP:0004322	Short stature
6729	SRP54	HP:0004395	Malnutrition
6729	SRP54	HP:0003016	Metaphyseal widening
6729	SRP54	HP:0003025	Metaphyseal irregularity
6729	SRP54	HP:0000736	Short attention span
6729	SRP54	HP:0000729	Autistic behavior
6729	SRP54	HP:0000708	Atypical behavior
6729	SRP54	HP:0000704	Periodontitis
6729	SRP54	HP:0000774	Narrow chest
6729	SRP54	HP:0004429	Recurrent viral infections
6729	SRP54	HP:0000924	Abnormality of the skeletal system
6729	SRP54	HP:0000920	Enlargement of the costochondral junction
6729	SRP54	HP:0000907	Anterior rib cupping
6729	SRP54	HP:0000886	Deformed rib cage
6729	SRP54	HP:0000819	Diabetes mellitus
6729	SRP54	HP:0000824	Decreased response to growth hormone stimulation test
6729	SRP54	HP:0040075	Hypopituitarism
6729	SRP54	HP:0005871	Metaphyseal chondrodysplasia
6729	SRP54	HP:0040238	Impaired neutrophil chemotaxis
6729	SRP54	HP:0045027	Abnormality of the thoracic cavity
6729	SRP54	HP:0000988	Skin rash
6729	SRP54	HP:0000964	Eczema
6729	SRP54	HP:0000938	Osteopenia
6729	SRP54	HP:0008064	Ichthyosis
6729	SRP54	HP:0006461	Proximal femoral epiphysiolysis
6729	SRP54	HP:0002812	Coxa vara
6729	SRP54	HP:0001581	Recurrent skin infections
6729	SRP54	HP:0000246	Sinusitis
6729	SRP54	HP:0012202	Increased serum bile acid concentration
6729	SRP54	HP:0000230	Gingivitis
6729	SRP54	HP:0002863	Myelodysplasia
6729	SRP54	HP:0001508	Failure to thrive
6729	SRP54	HP:0001518	Small for gestational age
6729	SRP54	HP:0001510	Growth delay
6729	SRP54	HP:0012384	Rhinitis
6729	SRP54	HP:0006598	Irregular ossification at anterior rib ends
6729	SRP54	HP:0002910	Elevated hepatic transaminase
6729	SRP54	HP:0006480	Premature loss of teeth
6729	SRP54	HP:0000365	Hearing impairment
6729	SRP54	HP:0011024	Abnormality of the gastrointestinal tract
6729	SRP54	HP:0000356	Abnormality of the outer ear
6729	SRP54	HP:0012311	Monocytosis
6729	SRP54	HP:0001627	Abnormal heart morphology
6729	SRP54	HP:0002953	Vertebral compression fracture
6729	SRP54	HP:0001738	Exocrine pancreatic insufficiency
6729	SRP54	HP:0001700	Myocardial necrosis
6729	SRP54	HP:0011107	Recurrent aphthous stomatitis
6729	SRP54	HP:0005425	Recurrent sinopulmonary infections
6729	SRP54	HP:0006721	Acute lymphoblastic leukemia
6729	SRP54	HP:0001888	Lymphopenia
6729	SRP54	HP:0001897	Normocytic anemia
6729	SRP54	HP:0001871	Abnormality of blood and blood-forming tissues
6729	SRP54	HP:0001880	Eosinophilia
6729	SRP54	HP:0001882	Leukopenia
6729	SRP54	HP:0001873	Thrombocytopenia
6729	SRP54	HP:0001876	Pancytopenia
6729	SRP54	HP:0001875	Neutropenia
6731	SRP72	HP:0000006	Autosomal dominant inheritance
6731	SRP72	HP:0005528	Bone marrow hypocellularity
6731	SRP72	HP:0001915	Aplastic anemia
6731	SRP72	HP:0002863	Myelodysplasia
6731	SRP72	HP:0000407	Sensorineural hearing impairment
6731	SRP72	HP:0001876	Pancytopenia
6736	SRY	HP:0002442	Dyscalculia
6736	SRY	HP:0001256	Intellectual disability, mild
6736	SRY	HP:0008726	Hypoplasia of the vagina
6736	SRY	HP:0008730	Female external genitalia in individual with 46,XY karyotype
6736	SRY	HP:0008734	Decreased testicular size
6736	SRY	HP:0008736	Hypoplasia of penis
6736	SRY	HP:0008715	Testicular dysgenesis
6736	SRY	HP:0008689	Bilateral cryptorchidism
6736	SRY	HP:0008665	Clitoral hypertrophy
6736	SRY	HP:0000085	Horseshoe kidney
6736	SRY	HP:0000098	Tall stature
6736	SRY	HP:0000062	Ambiguous genitalia
6736	SRY	HP:0000061	Ambiguous genitalia, female
6736	SRY	HP:0000058	Abnormal labia morphology
6736	SRY	HP:0000077	Abnormality of the kidney
6736	SRY	HP:0000044	Hypogonadotropic hypogonadism
6736	SRY	HP:0000046	Small scrotum
6736	SRY	HP:0000045	Abnormality of the scrotum
6736	SRY	HP:0000041	Chordee
6736	SRY	HP:0000037	Male pseudohermaphroditism
6736	SRY	HP:0000039	Epispadias
6736	SRY	HP:0000055	Abnormality of female external genitalia
6736	SRY	HP:0000054	Micropenis
6736	SRY	HP:0000048	Bifid scrotum
6736	SRY	HP:0000047	Hypospadias
6736	SRY	HP:0000022	Abnormal male internal genitalia morphology
6736	SRY	HP:0000033	Ambiguous genitalia, male
6736	SRY	HP:0000032	Abnormality of male external genitalia
6736	SRY	HP:0000030	Testicular gonadoblastoma
6736	SRY	HP:0000026	Male hypogonadism
6736	SRY	HP:0000028	Cryptorchidism
6736	SRY	HP:0000027	Azoospermia
6736	SRY	HP:0000008	Abnormal morphology of female internal genitalia
6736	SRY	HP:0002667	Nephroblastoma
6736	SRY	HP:0002650	Scoliosis
6736	SRY	HP:0000142	Abnormal vagina morphology
6736	SRY	HP:0000144	Decreased fertility
6736	SRY	HP:0000140	Abnormality of the menstrual cycle
6736	SRY	HP:0000150	Gonadoblastoma
6736	SRY	HP:0000147	Polycystic ovaries
6736	SRY	HP:0000149	Ovarian gonadoblastoma
6736	SRY	HP:0008968	Muscle hypertrophy of the lower extremities
6736	SRY	HP:0001450	Y-linked inheritance
6736	SRY	HP:0000133	Gonadal dysgenesis
6736	SRY	HP:0000130	Abnormality of the uterus
6736	SRY	HP:0000100	Nephrotic syndrome
6736	SRY	HP:0001423	X-linked dominant inheritance
6736	SRY	HP:0002750	Delayed skeletal maturation
6736	SRY	HP:0008193	Primary gonadal insufficiency
6736	SRY	HP:0008187	Absence of secondary sex characteristics
6736	SRY	HP:0010464	Streak ovary
6736	SRY	HP:0010459	True hermaphroditism
6736	SRY	HP:0002164	Nail dysplasia
6736	SRY	HP:0002162	Low posterior hairline
6736	SRY	HP:0008232	Elevated circulating follicle stimulating hormone level
6736	SRY	HP:0008214	Decreased serum estradiol
6736	SRY	HP:0002215	Sparse axillary hair
6736	SRY	HP:0002225	Sparse pubic hair
6736	SRY	HP:0100779	Urogenital sinus anomaly
6736	SRY	HP:0011969	Elevated circulating luteinizing hormone level
6736	SRY	HP:0001087	Developmental glaucoma
6736	SRY	HP:0010743	Short metatarsal
6736	SRY	HP:0000639	Nystagmus
6736	SRY	HP:0010044	Short 4th metacarpal
6736	SRY	HP:0004322	Short stature
6736	SRY	HP:0030680	Abnormality of cardiovascular system morphology
6736	SRY	HP:0000808	Penoscrotal hypospadias
6736	SRY	HP:0012741	Unilateral cryptorchidism
6736	SRY	HP:0000771	Gynecomastia
6736	SRY	HP:0000767	Pectus excavatum
6736	SRY	HP:0000729	Autistic behavior
6736	SRY	HP:0000786	Primary amenorrhea
6736	SRY	HP:0012870	Vanishing testis
6736	SRY	HP:0012856	Abnormal scrotal rugation
6736	SRY	HP:0012861	Ovotestis
6736	SRY	HP:0000868	Decreased fertility in females
6736	SRY	HP:0000837	Increased circulating gonadotropin level
6736	SRY	HP:0000846	Adrenal insufficiency
6736	SRY	HP:0000815	Hypergonadotropic hypogonadism
6736	SRY	HP:0000813	Bicornuate uterus
6736	SRY	HP:0000812	Abnormal internal genitalia
6736	SRY	HP:0000821	Hypothyroidism
6736	SRY	HP:0000823	Delayed puberty
6736	SRY	HP:0012887	Ovarian serous cystadenoma
6736	SRY	HP:0003251	Male infertility
6736	SRY	HP:0000939	Osteoporosis
6736	SRY	HP:0040171	Decreased serum testosterone concentration
6736	SRY	HP:0000286	Epicanthus
6736	SRY	HP:0012244	Abnormal sex determination
6736	SRY	HP:0012245	Sex reversal
6736	SRY	HP:0030079	Cervix cancer
6736	SRY	HP:0000218	High palate
6736	SRY	HP:0001513	Obesity
6736	SRY	HP:0000365	Hearing impairment
6736	SRY	HP:0000368	Low-set, posteriorly rotated ears
6736	SRY	HP:0001680	Coarctation of aorta
6736	SRY	HP:0000347	Micrognathia
6736	SRY	HP:0001647	Bicuspid aortic valve
6736	SRY	HP:0001649	Tachycardia
6736	SRY	HP:0001657	Prolonged QT interval
6736	SRY	HP:0002967	Cubitus valgus
6736	SRY	HP:0006610	Wide intermamillary distance
6736	SRY	HP:0000403	Recurrent otitis media
6736	SRY	HP:0000465	Webbed neck
6736	SRY	HP:0001822	Hallux valgus
6736	SRY	HP:0000505	Visual impairment
6742	SSBP1	HP:0000006	Autosomal dominant inheritance
6742	SSBP1	HP:0007663	Reduced visual acuity
6742	SSBP1	HP:0003621	Juvenile onset
6742	SSBP1	HP:0000648	Optic atrophy
6742	SSBP1	HP:0011463	Childhood onset
6742	SSBP1	HP:0011462	Young adult onset
6742	SSBP1	HP:0007843	Attenuation of retinal blood vessels
6742	SSBP1	HP:0000512	Abnormal electroretinogram
6748	SSR4	HP:0001290	Generalized hypotonia
6748	SSR4	HP:0001250	Seizure
6748	SSR4	HP:0001252	Hypotonia
6748	SSR4	HP:0001249	Intellectual disability
6748	SSR4	HP:0001263	Global developmental delay
6748	SSR4	HP:0002518	Abnormal periventricular white matter morphology
6748	SSR4	HP:0000085	Horseshoe kidney
6748	SSR4	HP:0001373	Joint dislocation
6748	SSR4	HP:0000047	Hypospadias
6748	SSR4	HP:0001331	Absent septum pellucidum
6748	SSR4	HP:0002650	Scoliosis
6748	SSR4	HP:0000154	Wide mouth
6748	SSR4	HP:0001419	X-linked recessive inheritance
6748	SSR4	HP:0002020	Gastroesophageal reflux
6748	SSR4	HP:0002013	Vomiting
6748	SSR4	HP:0002098	Respiratory distress
6748	SSR4	HP:0002079	Hypoplasia of the corpus callosum
6748	SSR4	HP:0003577	Congenital onset
6748	SSR4	HP:0011968	Feeding difficulties
6748	SSR4	HP:0003642	Type I transferrin isoform profile
6748	SSR4	HP:0001928	Abnormality of coagulation
6748	SSR4	HP:0011339	Abnormality of upper lip vermillion
6748	SSR4	HP:0000687	Widely spaced teeth
6748	SSR4	HP:0001999	Abnormal facial shape
6748	SSR4	HP:0000924	Abnormality of the skeletal system
6748	SSR4	HP:0003256	Abnormality of the coagulation cascade
6748	SSR4	HP:0030084	Clinodactyly
6748	SSR4	HP:0000252	Microcephaly
6748	SSR4	HP:0001508	Failure to thrive
6748	SSR4	HP:0011024	Abnormality of the gastrointestinal tract
6748	SSR4	HP:0000347	Micrognathia
6748	SSR4	HP:0001643	Patent ductus arteriosus
6748	SSR4	HP:0001626	Abnormality of the cardiovascular system
6748	SSR4	HP:0000400	Macrotia
6748	SSR4	HP:0000486	Strabismus
6748	SSR4	HP:0000490	Deeply set eye
6757	SSX2	HP:0001428	Somatic mutation
6757	SSX2	HP:0012570	Synovial sarcoma
6768	ST14	HP:0003777	Pili torti
6768	ST14	HP:0007431	Congenital ichthyosiform erythroderma
6768	ST14	HP:0000007	Autosomal recessive inheritance
6768	ST14	HP:0007665	Curly eyelashes
6768	ST14	HP:0003577	Congenital onset
6768	ST14	HP:0002231	Sparse body hair
6768	ST14	HP:0002212	Curly hair
6768	ST14	HP:0002299	Brittle hair
6768	ST14	HP:0000613	Photophobia
6768	ST14	HP:0000653	Sparse eyelashes
6768	ST14	HP:0045075	Sparse eyebrow
6768	ST14	HP:0000989	Pruritus
6768	ST14	HP:0000966	Hypohidrosis
6768	ST14	HP:0000962	Hyperkeratosis
6768	ST14	HP:0008070	Sparse hair
6768	ST14	HP:0008064	Ichthyosis
6768	ST14	HP:0001597	Abnormality of the nail
6768	ST14	HP:0011082	Conical primary incisor
6768	ST14	HP:0007957	Corneal opacity
6768	ST14	HP:0000498	Blepharitis
6770	STAR	HP:0002445	Tetraplegia
6770	STAR	HP:0001249	Intellectual disability
6770	STAR	HP:0002574	Episodic abdominal pain
6770	STAR	HP:0007440	Generalized hyperpigmentation
6770	STAR	HP:0031076	Impaired cortisol response to insulin stimulation test
6770	STAR	HP:0000098	Tall stature
6770	STAR	HP:0000047	Hypospadias
6770	STAR	HP:0000028	Cryptorchidism
6770	STAR	HP:0000027	Azoospermia
6770	STAR	HP:0001325	Hypoglycemic coma
6770	STAR	HP:0000010	Recurrent urinary tract infections
6770	STAR	HP:0000007	Autosomal recessive inheritance
6770	STAR	HP:0002615	Hypotension
6770	STAR	HP:0025451	Testicular adrenal rest tumor
6770	STAR	HP:0000127	Renal salt wasting
6770	STAR	HP:0031214	Decreased circulating dehydroepiandrosterone concentration
6770	STAR	HP:0002719	Recurrent infections
6770	STAR	HP:0002019	Constipation
6770	STAR	HP:0002014	Diarrhea
6770	STAR	HP:0002013	Vomiting
6770	STAR	HP:0002039	Anorexia
6770	STAR	HP:0008163	Decreased circulating cortisol level
6770	STAR	HP:0002153	Hyperkalemia
6770	STAR	HP:0002173	Hypoglycemic seizures
6770	STAR	HP:0008258	Congenital adrenal hyperplasia
6770	STAR	HP:0100618	Leydig cell neoplasia
6770	STAR	HP:0012605	Hypernatriuria
6770	STAR	HP:0004319	Decreased circulating aldosterone level
6770	STAR	HP:0012734	Ketotic hypoglycemia
6770	STAR	HP:0000851	Congenital hypothyroidism
6770	STAR	HP:0000846	Adrenal insufficiency
6770	STAR	HP:0000840	Adrenogenital syndrome
6770	STAR	HP:0000826	Precocious puberty
6770	STAR	HP:0001508	Failure to thrive
6770	STAR	HP:0011043	Abnormal circulating adrenocorticotropin concentration
6770	STAR	HP:0002902	Hyponatremia
6770	STAR	HP:0002960	Autoimmunity
6770	STAR	HP:0001639	Hypertrophic cardiomyopathy
6770	STAR	HP:0012432	Chronic fatigue
6770	STAR	HP:0001824	Weight loss
6772	STAT1	HP:0032249	Coccidioidomycosis
6772	STAT1	HP:0032257	Disseminated histoplasmosis
6772	STAT1	HP:0100817	Renovascular hypertension
6772	STAT1	HP:0002576	Intussusception
6772	STAT1	HP:0010976	B lymphocytopenia
6772	STAT1	HP:0033608	Pulmonary nodule
6772	STAT1	HP:0003829	Typified by incomplete penetrance
6772	STAT1	HP:0001324	Muscle weakness
6772	STAT1	HP:0000007	Autosomal recessive inheritance
6772	STAT1	HP:0000009	Functional abnormality of the bladder
6772	STAT1	HP:0000006	Autosomal dominant inheritance
6772	STAT1	HP:0012182	Oropharyngeal squamous cell carcinoma
6772	STAT1	HP:0012163	Carotid artery dilatation
6772	STAT1	HP:0012115	Hepatitis
6772	STAT1	HP:0002788	Recurrent upper respiratory tract infections
6772	STAT1	HP:0002754	Osteomyelitis
6772	STAT1	HP:0001433	Hepatosplenomegaly
6772	STAT1	HP:0002750	Delayed skeletal maturation
6772	STAT1	HP:0002719	Recurrent infections
6772	STAT1	HP:0002716	Lymphadenopathy
6772	STAT1	HP:0002728	Chronic mucocutaneous candidiasis
6772	STAT1	HP:0002724	Recurrent Aspergillus infections
6772	STAT1	HP:0002721	Immunodeficiency
6772	STAT1	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
6772	STAT1	HP:0002014	Diarrhea
6772	STAT1	HP:0002092	Pulmonary arterial hypertension
6772	STAT1	HP:0002110	Bronchiectasis
6772	STAT1	HP:0002243	Protein-losing enteropathy
6772	STAT1	HP:0002242	Abnormal intestine morphology
6772	STAT1	HP:0002240	Hepatomegaly
6772	STAT1	HP:0002205	Recurrent respiratory infections
6772	STAT1	HP:0032064	Gastrointestinal eosinophilia
6772	STAT1	HP:0020086	BCGitis
6772	STAT1	HP:0002383	Infectious encephalitis
6772	STAT1	HP:0100651	Type I diabetes mellitus
6772	STAT1	HP:0100646	Thyroiditis
6772	STAT1	HP:0004966	Medial calcification of large arteries
6772	STAT1	HP:0003621	Juvenile onset
6772	STAT1	HP:0003613	Antiphospholipid antibody positivity
6772	STAT1	HP:0004944	Dilatation of the cerebral artery
6772	STAT1	HP:0009098	Chronic oral candidiasis
6772	STAT1	HP:0001973	Autoimmune thrombocytopenia
6772	STAT1	HP:0001945	Fever
6772	STAT1	HP:0001920	Renal artery stenosis
6772	STAT1	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
6772	STAT1	HP:0004322	Short stature
6772	STAT1	HP:0004387	Enterocolitis
6772	STAT1	HP:0012735	Cough
6772	STAT1	HP:0011473	Villous atrophy
6772	STAT1	HP:0011459	Esophageal carcinoma
6772	STAT1	HP:0011463	Childhood onset
6772	STAT1	HP:0004429	Recurrent viral infections
6772	STAT1	HP:0000832	Primary hypothyroidism
6772	STAT1	HP:0000819	Diabetes mellitus
6772	STAT1	HP:0000818	Abnormality of the endocrine system
6772	STAT1	HP:0000821	Hypothyroidism
6772	STAT1	HP:0000823	Delayed puberty
6772	STAT1	HP:0003202	Skeletal muscle atrophy
6772	STAT1	HP:0000964	Eczema
6772	STAT1	HP:0000938	Osteopenia
6772	STAT1	HP:0040160	Generalized osteoporosis
6772	STAT1	HP:0012203	Onychomycosis
6772	STAT1	HP:0012204	Recurrent vulvovaginal candidiasis
6772	STAT1	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3
6772	STAT1	HP:0001510	Growth delay
6772	STAT1	HP:0012378	Fatigue
6772	STAT1	HP:0012302	Herpes simplex encephalitis
6772	STAT1	HP:0001655	Patent foramen ovale
6772	STAT1	HP:0002958	Immune dysregulation
6772	STAT1	HP:0001635	Congestive heart failure
6772	STAT1	HP:0005353	Recurrent herpes
6772	STAT1	HP:0011123	Inflammatory abnormality of the skin
6772	STAT1	HP:0001744	Splenomegaly
6772	STAT1	HP:0025708	Early young adult onset
6772	STAT1	HP:0005403	T lymphocytopenia
6772	STAT1	HP:0011275	Recurrent mycobacterium avium complex infections
6772	STAT1	HP:0011274	Recurrent mycobacterial infections
6772	STAT1	HP:0001824	Weight loss
6772	STAT1	HP:0030355	Abnormal circulating interferon-gamma concentration
6772	STAT1	HP:0001890	Autoimmune hemolytic anemia
6772	STAT1	HP:0001888	Lymphopenia
6772	STAT1	HP:0001873	Thrombocytopenia
6773	STAT2	HP:0410242	Abnormal circulating IgG level
6773	STAT2	HP:0001298	Encephalopathy
6773	STAT2	HP:0001250	Seizure
6773	STAT2	HP:0001263	Global developmental delay
6773	STAT2	HP:0002514	Cerebral calcification
6773	STAT2	HP:0002500	Abnormal cerebral white matter morphology
6773	STAT2	HP:0000093	Proteinuria
6773	STAT2	HP:0001342	Cerebral hemorrhage
6773	STAT2	HP:0000007	Autosomal recessive inheritance
6773	STAT2	HP:0001321	Cerebellar hypoplasia
6773	STAT2	HP:0002720	Decreased circulating IgA level
6773	STAT2	HP:0002093	Respiratory insufficiency
6773	STAT2	HP:0033106	Elevated circulating D-dimer concentration
6773	STAT2	HP:0002151	Increased serum lactate
6773	STAT2	HP:0002104	Apnea
6773	STAT2	HP:0003593	Infantile onset
6773	STAT2	HP:0020088	Post-vaccination measles
6773	STAT2	HP:0001974	Leukocytosis
6773	STAT2	HP:0001954	Recurrent fever
6773	STAT2	HP:0001903	Anemia
6773	STAT2	HP:0001905	Congenital thrombocytopenia
6773	STAT2	HP:0001919	Acute kidney injury
6773	STAT2	HP:0031964	Elevated circulating alanine aminotransferase concentration
6773	STAT2	HP:0011463	Childhood onset
6773	STAT2	HP:0000822	Hypertension
6773	STAT2	HP:0040204	Elevated CSF neopterin level
6773	STAT2	HP:0003281	Increased circulating ferritin concentration
6773	STAT2	HP:0001522	Death in infancy
6773	STAT2	HP:0002840	Lymphadenitis
6773	STAT2	HP:0002850	Decreased circulating total IgM
6773	STAT2	HP:0001622	Premature birth
6773	STAT2	HP:0001640	Cardiomegaly
6773	STAT2	HP:0031691	Severe viral infection
6773	STAT2	HP:0001888	Lymphopenia
6774	STAT3	HP:0010935	Abnormality of the upper urinary tract
6774	STAT3	HP:0010864	Intellectual disability, severe
6774	STAT3	HP:0001270	Motor delay
6774	STAT3	HP:0001252	Hypotonia
6774	STAT3	HP:0001251	Ataxia
6774	STAT3	HP:0001249	Intellectual disability
6774	STAT3	HP:0002594	Pancreatic hypoplasia
6774	STAT3	HP:0001263	Global developmental delay
6774	STAT3	HP:0001259	Coma
6774	STAT3	HP:0002571	Achalasia
6774	STAT3	HP:0031035	Chronic infection
6774	STAT3	HP:0031020	Bone marrow hypercellularity
6774	STAT3	HP:0001382	Joint hypermobility
6774	STAT3	HP:0001363	Craniosynostosis
6774	STAT3	HP:0001324	Muscle weakness
6774	STAT3	HP:0002665	Lymphoma
6774	STAT3	HP:0000006	Autosomal dominant inheritance
6774	STAT3	HP:0002653	Bone pain
6774	STAT3	HP:0002650	Scoliosis
6774	STAT3	HP:0002617	Vascular dilatation
6774	STAT3	HP:0002608	Celiac disease
6774	STAT3	HP:0012189	Hodgkin lymphoma
6774	STAT3	HP:0000164	Abnormality of the dentition
6774	STAT3	HP:0001488	Bilateral ptosis
6774	STAT3	HP:0000175	Cleft palate
6774	STAT3	HP:0006335	Persistence of primary teeth
6774	STAT3	HP:0031292	Cutaneous abscess
6774	STAT3	HP:0006274	Reduced pancreatic beta cells
6774	STAT3	HP:0002783	Recurrent lower respiratory tract infections
6774	STAT3	HP:0025420	Diffuse alveolar hemorrhage
6774	STAT3	HP:0002788	Recurrent upper respiratory tract infections
6774	STAT3	HP:0000124	Renal tubular dysfunction
6774	STAT3	HP:0002757	Recurrent fractures
6774	STAT3	HP:0002754	Osteomyelitis
6774	STAT3	HP:0001433	Hepatosplenomegaly
6774	STAT3	HP:0031245	Productive cough
6774	STAT3	HP:0002719	Recurrent infections
6774	STAT3	HP:0002716	Lymphadenopathy
6774	STAT3	HP:0002714	Downturned corners of mouth
6774	STAT3	HP:0002728	Chronic mucocutaneous candidiasis
6774	STAT3	HP:0002726	Recurrent Staphylococcus aureus infections
6774	STAT3	HP:0002027	Abdominal pain
6774	STAT3	HP:0002007	Frontal bossing
6774	STAT3	HP:0002069	Bilateral tonic-clonic seizure
6774	STAT3	HP:0030955	Alcoholism
6774	STAT3	HP:0002039	Anorexia
6774	STAT3	HP:0005942	Desquamative interstitial pneumonitis
6774	STAT3	HP:0003477	Peripheral axonal neuropathy
6774	STAT3	HP:0002123	Generalized myoclonic seizure
6774	STAT3	HP:0011900	Hypofibrinogenemia
6774	STAT3	HP:0002186	Apraxia
6774	STAT3	HP:0003593	Infantile onset
6774	STAT3	HP:0002242	Abnormal intestine morphology
6774	STAT3	HP:0002205	Recurrent respiratory infections
6774	STAT3	HP:0100750	Atelectasis
6774	STAT3	HP:0100758	Gangrene
6774	STAT3	HP:0008391	Dystrophic fingernails
6774	STAT3	HP:0002321	Vertigo
6774	STAT3	HP:0100651	Type I diabetes mellitus
6774	STAT3	HP:0100658	Cellulitis
6774	STAT3	HP:0200037	Skin vesicle
6774	STAT3	HP:0200034	Papule
6774	STAT3	HP:0100608	Metrorrhagia
6774	STAT3	HP:0200042	Skin ulcer
6774	STAT3	HP:0010783	Erythema
6774	STAT3	HP:0003623	Neonatal onset
6774	STAT3	HP:0003621	Juvenile onset
6774	STAT3	HP:0005521	Disseminated intravascular coagulation
6774	STAT3	HP:0001973	Autoimmune thrombocytopenia
6774	STAT3	HP:0001974	Leukocytosis
6774	STAT3	HP:0001944	Dehydration
6774	STAT3	HP:0001945	Fever
6774	STAT3	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
6774	STAT3	HP:0001903	Anemia
6774	STAT3	HP:0011354	Generalized abnormality of skin
6774	STAT3	HP:0000684	Delayed eruption of teeth
6774	STAT3	HP:0004322	Short stature
6774	STAT3	HP:0004313	Decreased circulating antibody level
6774	STAT3	HP:0003076	Glycosuria
6774	STAT3	HP:0003074	Hyperglycemia
6774	STAT3	HP:0005692	Joint hyperflexibility
6774	STAT3	HP:0012735	Cough
6774	STAT3	HP:0011463	Childhood onset
6774	STAT3	HP:0000790	Hematuria
6774	STAT3	HP:0012758	Neurodevelopmental delay
6774	STAT3	HP:0005750	Lower-limb joint contracture
6774	STAT3	HP:0005764	Polyarticular arthritis
6774	STAT3	HP:0000857	Neonatal insulin-dependent diabetes mellitus
6774	STAT3	HP:0000821	Hypothyroidism
6774	STAT3	HP:0000823	Delayed puberty
6774	STAT3	HP:0010280	Stomatitis
6774	STAT3	HP:0003212	Increased circulating IgE level
6774	STAT3	HP:0000979	Purpura
6774	STAT3	HP:0000976	Eczematoid dermatitis
6774	STAT3	HP:0000978	Bruising susceptibility
6774	STAT3	HP:0000989	Pruritus
6774	STAT3	HP:0000988	Skin rash
6774	STAT3	HP:0000964	Eczema
6774	STAT3	HP:0000967	Petechiae
6774	STAT3	HP:0000938	Osteopenia
6774	STAT3	HP:0000280	Coarse facial features
6774	STAT3	HP:0001595	Abnormal hair morphology
6774	STAT3	HP:0000271	Abnormality of the face
6774	STAT3	HP:0030057	Autoimmune antibody positivity
6774	STAT3	HP:0002804	Arthrogryposis multiplex congenita
6774	STAT3	HP:0000218	High palate
6774	STAT3	HP:0000212	Gingival overgrowth
6774	STAT3	HP:0002875	Exertional dyspnea
6774	STAT3	HP:0000230	Gingivitis
6774	STAT3	HP:0000225	Gingival bleeding
6774	STAT3	HP:0031364	Ecchymosis
6774	STAT3	HP:0001508	Failure to thrive
6774	STAT3	HP:0001511	Intrauterine growth retardation
6774	STAT3	HP:0002841	Recurrent fungal infections
6774	STAT3	HP:0012378	Fatigue
6774	STAT3	HP:0000389	Chronic otitis media
6774	STAT3	HP:0006532	Recurrent pneumonia
6774	STAT3	HP:0006515	Interstitial pneumonitis
6774	STAT3	HP:0002919	Ketonuria
6774	STAT3	HP:0000365	Hearing impairment
6774	STAT3	HP:0000316	Hypertelorism
6774	STAT3	HP:0030140	Oral cavity bleeding
6774	STAT3	HP:0002960	Autoimmunity
6774	STAT3	HP:0001627	Abnormal heart morphology
6774	STAT3	HP:0001738	Exocrine pancreatic insufficiency
6774	STAT3	HP:0000490	Deeply set eye
6774	STAT3	HP:0000488	Retinopathy
6774	STAT3	HP:0011106	Hypovolemia
6774	STAT3	HP:0000445	Wide nose
6774	STAT3	HP:0000431	Wide nasal bridge
6774	STAT3	HP:0000421	Epistaxis
6774	STAT3	HP:0005425	Recurrent sinopulmonary infections
6774	STAT3	HP:0005487	Prominent metopic ridge
6774	STAT3	HP:0001824	Weight loss
6774	STAT3	HP:0001818	Paronychia
6774	STAT3	HP:0012594	Moderate albuminuria
6774	STAT3	HP:0001892	Abnormal bleeding
6774	STAT3	HP:0001890	Autoimmune hemolytic anemia
6774	STAT3	HP:0011220	Prominent forehead
6774	STAT3	HP:0001880	Eosinophilia
6774	STAT3	HP:0001882	Leukopenia
6774	STAT3	HP:0001873	Thrombocytopenia
6774	STAT3	HP:0001876	Pancytopenia
6774	STAT3	HP:0001875	Neutropenia
6775	STAT4	HP:0001155	Abnormality of the hand
6775	STAT4	HP:0002463	Language impairment
6775	STAT4	HP:0007256	Abnormal pyramidal sign
6775	STAT4	HP:0010885	Avascular necrosis
6775	STAT4	HP:0100820	Glomerulopathy
6775	STAT4	HP:0001269	Hemiparesis
6775	STAT4	HP:0001287	Meningitis
6775	STAT4	HP:0001289	Confusion
6775	STAT4	HP:0001288	Gait disturbance
6775	STAT4	HP:0001250	Seizure
6775	STAT4	HP:0001251	Ataxia
6775	STAT4	HP:0007417	Discoid lupus rash
6775	STAT4	HP:0002516	Increased intracranial pressure
6775	STAT4	HP:0000083	Renal insufficiency
6775	STAT4	HP:0000093	Proteinuria
6775	STAT4	HP:0000079	Abnormality of the urinary system
6775	STAT4	HP:0001371	Flexion contracture
6775	STAT4	HP:0001370	Rheumatoid arthritis
6775	STAT4	HP:0025343	Lupus anticoagulant
6775	STAT4	HP:0001369	Arthritis
6775	STAT4	HP:0001386	Joint swelling
6775	STAT4	HP:0001387	Joint stiffness
6775	STAT4	HP:0001382	Joint hypermobility
6775	STAT4	HP:0001384	Abnormal hip joint morphology
6775	STAT4	HP:0001347	Hyperreflexia
6775	STAT4	HP:0008850	Severe postnatal growth retardation
6775	STAT4	HP:0008843	Hip osteoarthritis
6775	STAT4	HP:0025300	Malar rash
6775	STAT4	HP:0001324	Muscle weakness
6775	STAT4	HP:0002637	Cerebral ischemia
6775	STAT4	HP:0002633	Vasculitis
6775	STAT4	HP:0025435	Increased circulating lactate dehydrogenase concentration
6775	STAT4	HP:0000155	Oral ulcer
6775	STAT4	HP:0001482	Subcutaneous nodule
6775	STAT4	HP:0007663	Reduced visual acuity
6775	STAT4	HP:0000123	Nephritis
6775	STAT4	HP:0000100	Nephrotic syndrome
6775	STAT4	HP:0001433	Hepatosplenomegaly
6775	STAT4	HP:0002716	Lymphadenopathy
6775	STAT4	HP:0002725	Systemic lupus erythematosus
6775	STAT4	HP:0002024	Malabsorption
6775	STAT4	HP:0002017	Nausea and vomiting
6775	STAT4	HP:0002027	Abdominal pain
6775	STAT4	HP:0040313	Oligoarthritis
6775	STAT4	HP:0040319	Dark urine
6775	STAT4	HP:0003326	Myalgia
6775	STAT4	HP:0002014	Diarrhea
6775	STAT4	HP:0002013	Vomiting
6775	STAT4	HP:0003319	Abnormality of the cervical spine
6775	STAT4	HP:0002086	Abnormality of the respiratory system
6775	STAT4	HP:0100543	Cognitive impairment
6775	STAT4	HP:0002094	Dyspnea
6775	STAT4	HP:0002076	Migraine
6775	STAT4	HP:0002039	Anorexia
6775	STAT4	HP:0100584	Endocarditis
6775	STAT4	HP:0003453	Antineutrophil antibody positivity
6775	STAT4	HP:0002102	Pleuritis
6775	STAT4	HP:0002113	Pulmonary infiltrates
6775	STAT4	HP:0002105	Hemoptysis
6775	STAT4	HP:0011911	Abnormal metacarpophalangeal joint morphology
6775	STAT4	HP:0003493	Antinuclear antibody positivity
6775	STAT4	HP:0003401	Paresthesia
6775	STAT4	HP:0002239	Gastrointestinal hemorrhage
6775	STAT4	HP:0003565	Elevated erythrocyte sedimentation rate
6775	STAT4	HP:0002202	Pleural effusion
6775	STAT4	HP:0002204	Pulmonary embolism
6775	STAT4	HP:0100769	Synovitis
6775	STAT4	HP:0100796	Orchitis
6775	STAT4	HP:0100749	Chest pain
6775	STAT4	HP:0100758	Gangrene
6775	STAT4	HP:0002383	Infectious encephalitis
6775	STAT4	HP:0001061	Acne
6775	STAT4	HP:0002376	Developmental regression
6775	STAT4	HP:0002354	Memory impairment
6775	STAT4	HP:0002321	Vertigo
6775	STAT4	HP:0002315	Headache
6775	STAT4	HP:0100653	Optic neuritis
6775	STAT4	HP:0100654	Retrobulbar optic neuritis
6775	STAT4	HP:0200034	Papule
6775	STAT4	HP:0001097	Keratoconjunctivitis sicca
6775	STAT4	HP:0001094	Iridocyclitis
6775	STAT4	HP:0100614	Myositis
6775	STAT4	HP:0100686	Enthesitis
6775	STAT4	HP:0010754	Abnormality of the temporomandibular joint
6775	STAT4	HP:0002301	Hemiplegia
6775	STAT4	HP:0004936	Venous thrombosis
6775	STAT4	HP:0003613	Antiphospholipid antibody positivity
6775	STAT4	HP:0006824	Cranial nerve paralysis
6775	STAT4	HP:0000618	Blindness
6775	STAT4	HP:0000613	Photophobia
6775	STAT4	HP:0001945	Fever
6775	STAT4	HP:0001937	Microangiopathic hemolytic anemia
6775	STAT4	HP:0001903	Anemia
6775	STAT4	HP:0012649	Increased inflammatory response
6775	STAT4	HP:0003028	Abnormality of the ankle
6775	STAT4	HP:0003043	Abnormal shoulder morphology
6775	STAT4	HP:0004372	Reduced consciousness/confusion
6775	STAT4	HP:0003019	Abnormality of the wrist
6775	STAT4	HP:0000737	Irritability
6775	STAT4	HP:0000709	Psychosis
6775	STAT4	HP:0000708	Atypical behavior
6775	STAT4	HP:0000707	Abnormality of the nervous system
6775	STAT4	HP:0000790	Hematuria
6775	STAT4	HP:0004420	Arterial thrombosis
6775	STAT4	HP:0030782	Abnormal circulating interleukin concentration
6775	STAT4	HP:0100326	Immunologic hypersensitivity
6775	STAT4	HP:0030880	Raynaud phenomenon
6775	STAT4	HP:0045042	Decreased circulating complement C4 concentration
6775	STAT4	HP:0003270	Abdominal distention
6775	STAT4	HP:0000988	Skin rash
6775	STAT4	HP:0000951	Abnormality of the skin
6775	STAT4	HP:0000969	Edema
6775	STAT4	HP:0008066	Abnormal blistering of the skin
6775	STAT4	HP:0001596	Alopecia
6775	STAT4	HP:0002829	Arthralgia
6775	STAT4	HP:0005086	Knee osteoarthritis
6775	STAT4	HP:0001530	Mild postnatal growth retardation
6775	STAT4	HP:0001541	Ascites
6775	STAT4	HP:0001508	Failure to thrive
6775	STAT4	HP:0007833	Anterior chamber synechiae
6775	STAT4	HP:0012378	Fatigue
6775	STAT4	HP:0005186	Synovial hypertrophy
6775	STAT4	HP:0011024	Abnormality of the gastrointestinal tract
6775	STAT4	HP:0001698	Pericardial effusion
6775	STAT4	HP:0001658	Myocardial infarction
6775	STAT4	HP:0001659	Aortic regurgitation
6775	STAT4	HP:0001653	Mitral regurgitation
6775	STAT4	HP:0002960	Autoimmunity
6775	STAT4	HP:0001637	Abnormal myocardium morphology
6775	STAT4	HP:0001733	Pancreatitis
6775	STAT4	HP:0001701	Pericarditis
6775	STAT4	HP:0011134	Low-grade fever
6775	STAT4	HP:0000488	Retinopathy
6775	STAT4	HP:0001785	Ankle swelling
6775	STAT4	HP:0011107	Recurrent aphthous stomatitis
6775	STAT4	HP:0001744	Splenomegaly
6775	STAT4	HP:0005421	Decreased circulating complement C3 concentration
6775	STAT4	HP:0000518	Cataract
6775	STAT4	HP:0001824	Weight loss
6775	STAT4	HP:0001832	Abnormal metatarsal morphology
6775	STAT4	HP:0000501	Glaucoma
6775	STAT4	HP:0000585	Band keratopathy
6775	STAT4	HP:0030356	Increased circulating interferon-gamma concentration
6775	STAT4	HP:0001888	Lymphopenia
6775	STAT4	HP:0000554	Uveitis
6775	STAT4	HP:0000572	Visual loss
6775	STAT4	HP:0001882	Leukopenia
6775	STAT4	HP:0001873	Thrombocytopenia
6777	STAT5B	HP:0031035	Chronic infection
6777	STAT5B	HP:0031020	Bone marrow hypercellularity
6777	STAT5B	HP:0008897	Postnatal growth retardation
6777	STAT5B	HP:0001324	Muscle weakness
6777	STAT5B	HP:0000007	Autosomal recessive inheritance
6777	STAT5B	HP:0000006	Autosomal dominant inheritance
6777	STAT5B	HP:0002653	Bone pain
6777	STAT5B	HP:0002608	Celiac disease
6777	STAT5B	HP:0025420	Diffuse alveolar hemorrhage
6777	STAT5B	HP:0002750	Delayed skeletal maturation
6777	STAT5B	HP:0031245	Productive cough
6777	STAT5B	HP:0002719	Recurrent infections
6777	STAT5B	HP:0002716	Lymphadenopathy
6777	STAT5B	HP:0002027	Abdominal pain
6777	STAT5B	HP:0002098	Respiratory distress
6777	STAT5B	HP:0030955	Alcoholism
6777	STAT5B	HP:0002039	Anorexia
6777	STAT5B	HP:0011900	Hypofibrinogenemia
6777	STAT5B	HP:0100758	Gangrene
6777	STAT5B	HP:0003510	Severe short stature
6777	STAT5B	HP:0002321	Vertigo
6777	STAT5B	HP:0100646	Thyroiditis
6777	STAT5B	HP:0100608	Metrorrhagia
6777	STAT5B	HP:0005521	Disseminated intravascular coagulation
6777	STAT5B	HP:0001974	Leukocytosis
6777	STAT5B	HP:0001945	Fever
6777	STAT5B	HP:0001903	Anemia
6777	STAT5B	HP:0004322	Short stature
6777	STAT5B	HP:0000790	Hematuria
6777	STAT5B	HP:0000824	Decreased response to growth hormone stimulation test
6777	STAT5B	HP:0000823	Delayed puberty
6777	STAT5B	HP:0010280	Stomatitis
6777	STAT5B	HP:0003212	Increased circulating IgE level
6777	STAT5B	HP:0000979	Purpura
6777	STAT5B	HP:0000978	Bruising susceptibility
6777	STAT5B	HP:0000964	Eczema
6777	STAT5B	HP:0000967	Petechiae
6777	STAT5B	HP:0000252	Microcephaly
6777	STAT5B	HP:0000212	Gingival overgrowth
6777	STAT5B	HP:0002875	Exertional dyspnea
6777	STAT5B	HP:0000225	Gingival bleeding
6777	STAT5B	HP:0031364	Ecchymosis
6777	STAT5B	HP:0001508	Failure to thrive
6777	STAT5B	HP:0012378	Fatigue
6777	STAT5B	HP:0006527	Lymphocytic interstitial pneumonia
6777	STAT5B	HP:0030140	Oral cavity bleeding
6777	STAT5B	HP:0001620	High pitched voice
6777	STAT5B	HP:0011120	Concave nasal ridge
6777	STAT5B	HP:0000421	Epistaxis
6777	STAT5B	HP:0001824	Weight loss
6777	STAT5B	HP:0030353	Decreased serum insulin-like growth factor 1
6777	STAT5B	HP:0001892	Abnormal bleeding
6777	STAT5B	HP:0011220	Prominent forehead
6777	STAT5B	HP:0001882	Leukopenia
6777	STAT5B	HP:0001873	Thrombocytopenia
6777	STAT5B	HP:0001876	Pancytopenia
6777	STAT5B	HP:0001875	Neutropenia
6778	STAT6	HP:0002585	Abnormality of the peritoneum
6778	STAT6	HP:0008775	Abnormal prostate morphology
6778	STAT6	HP:0000016	Urinary retention
6778	STAT6	HP:0002664	Neoplasm
6778	STAT6	HP:0012125	Prostate cancer
6778	STAT6	HP:0002019	Constipation
6778	STAT6	HP:0100527	Neoplasia of the pleura
6778	STAT6	HP:0100526	Neoplasm of the lung
6778	STAT6	HP:0003419	Low back pain
6778	STAT6	HP:0100650	Vaginal neoplasm
6778	STAT6	HP:0010784	Uterine neoplasm
6778	STAT6	HP:0010787	Genital neoplasm
6778	STAT6	HP:0004912	Hypophosphatemic rickets
6778	STAT6	HP:0007185	Loss of consciousness
6778	STAT6	HP:0000651	Diplopia
6778	STAT6	HP:0001943	Hypoglycemia
6778	STAT6	HP:0001945	Fever
6778	STAT6	HP:0001988	Recurrent hypoglycemia
6778	STAT6	HP:0004375	Neoplasm of the nervous system
6778	STAT6	HP:0030795	Reduced C-peptide level
6778	STAT6	HP:0040216	Hypoinsulinemia
6778	STAT6	HP:0045026	Abnormal mediastinum morphology
6778	STAT6	HP:0000290	Abnormality of the forehead
6778	STAT6	HP:0002896	Neoplasm of the liver
6778	STAT6	HP:0031501	Pelvic mass
6778	STAT6	HP:0012378	Fatigue
6778	STAT6	HP:0031459	Soft tissue neoplasm
6778	STAT6	HP:0030166	Night sweats
6778	STAT6	HP:0001824	Weight loss
6785	ELOVL4	HP:0007256	Abnormal pyramidal sign
6785	ELOVL4	HP:0001272	Cerebellar atrophy
6785	ELOVL4	HP:0001288	Gait disturbance
6785	ELOVL4	HP:0001250	Seizure
6785	ELOVL4	HP:0001251	Ataxia
6785	ELOVL4	HP:0001265	Hyporeflexia
6785	ELOVL4	HP:0001260	Dysarthria
6785	ELOVL4	HP:0001263	Global developmental delay
6785	ELOVL4	HP:0001257	Spasticity
6785	ELOVL4	HP:0007401	Macular atrophy
6785	ELOVL4	HP:0003829	Typified by incomplete penetrance
6785	ELOVL4	HP:0002510	Spastic tetraplegia
6785	ELOVL4	HP:0002509	Limb hypertonia
6785	ELOVL4	HP:0003819	Death in childhood
6785	ELOVL4	HP:0000023	Inguinal hernia
6785	ELOVL4	HP:0001347	Hyperreflexia
6785	ELOVL4	HP:0007543	Epidermal hyperkeratosis
6785	ELOVL4	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
6785	ELOVL4	HP:0000007	Autosomal recessive inheritance
6785	ELOVL4	HP:0000006	Autosomal dominant inheritance
6785	ELOVL4	HP:0007663	Reduced visual acuity
6785	ELOVL4	HP:0002080	Intention tremor
6785	ELOVL4	HP:0002099	Asthma
6785	ELOVL4	HP:0002066	Gait ataxia
6785	ELOVL4	HP:0002075	Dysdiadochokinesis
6785	ELOVL4	HP:0002073	Progressive cerebellar ataxia
6785	ELOVL4	HP:0002070	Limb ataxia
6785	ELOVL4	HP:0003477	Peripheral axonal neuropathy
6785	ELOVL4	HP:0002123	Generalized myoclonic seizure
6785	ELOVL4	HP:0002120	Cerebral cortical atrophy
6785	ELOVL4	HP:0002188	Delayed CNS myelination
6785	ELOVL4	HP:0002187	Intellectual disability, profound
6785	ELOVL4	HP:0002167	Abnormality of speech or vocalization
6785	ELOVL4	HP:0003596	Middle age onset
6785	ELOVL4	HP:0003577	Congenital onset
6785	ELOVL4	HP:0003584	Late onset
6785	ELOVL4	HP:0002380	Fasciculations
6785	ELOVL4	HP:0001025	Urticaria
6785	ELOVL4	HP:0001019	Erythroderma
6785	ELOVL4	HP:0200034	Papule
6785	ELOVL4	HP:0010783	Erythema
6785	ELOVL4	HP:0030500	Yellow/white lesions of the macula
6785	ELOVL4	HP:0000639	Nystagmus
6785	ELOVL4	HP:0000649	Abnormality of visual evoked potentials
6785	ELOVL4	HP:0000613	Photophobia
6785	ELOVL4	HP:0000610	Abnormal choroid morphology
6785	ELOVL4	HP:0000605	Supranuclear gaze palsy
6785	ELOVL4	HP:0000608	Macular degeneration
6785	ELOVL4	HP:0000603	Central scotoma
6785	ELOVL4	HP:0000662	Nyctalopia
6785	ELOVL4	HP:0003011	Abnormality of the musculature
6785	ELOVL4	HP:0012736	Profound global developmental delay
6785	ELOVL4	HP:0100022	Abnormality of movement
6785	ELOVL4	HP:0012733	Macule
6785	ELOVL4	HP:0011462	Young adult onset
6785	ELOVL4	HP:0011507	Macular flecks
6785	ELOVL4	HP:0034392	Joint contracture
6785	ELOVL4	HP:0008002	Abnormality of macular pigmentation
6785	ELOVL4	HP:0000958	Dry skin
6785	ELOVL4	HP:0000966	Hypohidrosis
6785	ELOVL4	HP:0000962	Hyperkeratosis
6785	ELOVL4	HP:0008064	Ichthyosis
6785	ELOVL4	HP:0008059	Aplasia/Hypoplasia of the macula
6785	ELOVL4	HP:0040189	Scaling skin
6785	ELOVL4	HP:0007722	Retinal pigment epithelial atrophy
6785	ELOVL4	HP:0007704	Paroxysmal involuntary eye movements
6785	ELOVL4	HP:0007772	Impaired smooth pursuit
6785	ELOVL4	HP:0007754	Macular dystrophy
6785	ELOVL4	HP:0000252	Microcephaly
6785	ELOVL4	HP:0000230	Gingivitis
6785	ELOVL4	HP:0001510	Growth delay
6785	ELOVL4	HP:0007814	Retinal pigment epithelial mottling
6785	ELOVL4	HP:0011003	High myopia
6785	ELOVL4	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
6785	ELOVL4	HP:0000324	Facial asymmetry
6785	ELOVL4	HP:0030329	Retinal thinning
6785	ELOVL4	HP:0000486	Strabismus
6785	ELOVL4	HP:0000493	Abnormal foveal morphology
6785	ELOVL4	HP:0012444	Brain atrophy
6785	ELOVL4	HP:0000505	Visual impairment
6785	ELOVL4	HP:0000551	Color vision defect
6786	STIM1	HP:0003750	Increased muscle fatiguability
6786	STIM1	HP:0003738	Exercise-induced myalgia
6786	STIM1	HP:0002401	Stroke-like episode
6786	STIM1	HP:0003701	Proximal muscle weakness
6786	STIM1	HP:0001252	Hypotonia
6786	STIM1	HP:0002522	Areflexia of lower limbs
6786	STIM1	HP:0003828	Variable expressivity
6786	STIM1	HP:0003803	Type 1 muscle fiber predominance
6786	STIM1	HP:0001371	Flexion contracture
6786	STIM1	HP:0000007	Autosomal recessive inheritance
6786	STIM1	HP:0000006	Autosomal dominant inheritance
6786	STIM1	HP:0002600	Hyporeflexia of lower limbs
6786	STIM1	HP:0025435	Increased circulating lactate dehydrogenase concentration
6786	STIM1	HP:0007676	Hypoplasia of the iris
6786	STIM1	HP:0006270	Hypoplastic spleen
6786	STIM1	HP:0032550	Howell-Jolly bodies
6786	STIM1	HP:0002719	Recurrent infections
6786	STIM1	HP:0002718	Recurrent bacterial infections
6786	STIM1	HP:0002716	Lymphadenopathy
6786	STIM1	HP:0002721	Immunodeficiency
6786	STIM1	HP:0003326	Myalgia
6786	STIM1	HP:0002093	Respiratory insufficiency
6786	STIM1	HP:0003394	Muscle spasm
6786	STIM1	HP:0002076	Migraine
6786	STIM1	HP:0003388	Easy fatigability
6786	STIM1	HP:0003473	Fatigable weakness
6786	STIM1	HP:0002138	Subarachnoid hemorrhage
6786	STIM1	HP:0003458	EMG: myopathic abnormalities
6786	STIM1	HP:0002167	Abnormality of speech or vocalization
6786	STIM1	HP:0002164	Nail dysplasia
6786	STIM1	HP:0010522	Dyslexia
6786	STIM1	HP:0003581	Adult onset
6786	STIM1	HP:0003554	Type 2 muscle fiber atrophy
6786	STIM1	HP:0003552	Muscle stiffness
6786	STIM1	HP:0003557	Increased variability in muscle fiber diameter
6786	STIM1	HP:0010701	Abnormal immunoglobulin level
6786	STIM1	HP:0100726	Kaposi's sarcoma
6786	STIM1	HP:0002359	Frequent falls
6786	STIM1	HP:0003676	Progressive
6786	STIM1	HP:0003687	Centrally nucleated skeletal muscle fibers
6786	STIM1	HP:0003677	Slowly progressive
6786	STIM1	HP:0007126	Proximal amyotrophy
6786	STIM1	HP:0003621	Juvenile onset
6786	STIM1	HP:0000616	Miosis
6786	STIM1	HP:0000615	Abnormal pupil morphology
6786	STIM1	HP:0001954	Recurrent fever
6786	STIM1	HP:0001928	Abnormality of coagulation
6786	STIM1	HP:0000601	Hypotelorism
6786	STIM1	HP:0001903	Anemia
6786	STIM1	HP:0009046	Difficulty running
6786	STIM1	HP:0000662	Nyctalopia
6786	STIM1	HP:0009005	Weakness of the intrinsic hand muscles
6786	STIM1	HP:0004322	Short stature
6786	STIM1	HP:0003011	Abnormality of the musculature
6786	STIM1	HP:0000705	Amelogenesis imperfecta
6786	STIM1	HP:0011463	Childhood onset
6786	STIM1	HP:0000790	Hematuria
6786	STIM1	HP:0003198	Myopathy
6786	STIM1	HP:0100301	Muscle fiber tubular inclusions
6786	STIM1	HP:0040088	Abnormal lymphocyte count
6786	STIM1	HP:0003236	Elevated circulating creatine kinase concentration
6786	STIM1	HP:0034392	Joint contracture
6786	STIM1	HP:0000979	Purpura
6786	STIM1	HP:0000978	Bruising susceptibility
6786	STIM1	HP:0000966	Hypohidrosis
6786	STIM1	HP:0008064	Ichthyosis
6786	STIM1	HP:0030200	Fatiguable weakness of proximal limb muscles
6786	STIM1	HP:0000348	High forehead
6786	STIM1	HP:0000322	Short philtrum
6786	STIM1	HP:0000490	Deeply set eye
6786	STIM1	HP:0000448	Prominent nose
6786	STIM1	HP:0001746	Asplenia
6786	STIM1	HP:0000421	Epistaxis
6786	STIM1	HP:0001892	Abnormal bleeding
6786	STIM1	HP:0001890	Autoimmune hemolytic anemia
6786	STIM1	HP:0001872	Abnormality of thrombocytes
6786	STIM1	HP:0001873	Thrombocytopenia
6786	STIM1	HP:0000544	External ophthalmoplegia
6789	STK4	HP:0000007	Autosomal recessive inheritance
6789	STK4	HP:0002718	Recurrent bacterial infections
6789	STK4	HP:0002721	Immunodeficiency
6789	STK4	HP:0200043	Verrucae
6789	STK4	HP:0004429	Recurrent viral infections
6789	STK4	HP:0002841	Recurrent fungal infections
6789	STK4	HP:0001631	Atrial septal defect
6789	STK4	HP:0001888	Lymphopenia
6789	STK4	HP:0001875	Neutropenia
6790	AURKA	HP:0000006	Autosomal dominant inheritance
6790	AURKA	HP:0001428	Somatic mutation
6790	AURKA	HP:0005584	Renal cell carcinoma
6790	AURKA	HP:0002891	Uterine leiomyosarcoma
6790	AURKA	HP:0006753	Neoplasm of the stomach
6790	AURKA	HP:0006740	Transitional cell carcinoma of the bladder
6790	AURKA	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
6792	CDKL5	HP:0001182	Tapered finger
6792	CDKL5	HP:0007328	Impaired pain sensation
6792	CDKL5	HP:0007281	Developmental stagnation
6792	CDKL5	HP:0010851	EEG with burst suppression
6792	CDKL5	HP:0010850	EEG with spike-wave complexes
6792	CDKL5	HP:0002421	Poor head control
6792	CDKL5	HP:0003763	Bruxism
6792	CDKL5	HP:0025269	Panic attack
6792	CDKL5	HP:0001290	Generalized hypotonia
6792	CDKL5	HP:0001272	Cerebellar atrophy
6792	CDKL5	HP:0001288	Gait disturbance
6792	CDKL5	HP:0001256	Intellectual disability, mild
6792	CDKL5	HP:0001250	Seizure
6792	CDKL5	HP:0001252	Hypotonia
6792	CDKL5	HP:0001249	Intellectual disability
6792	CDKL5	HP:0001266	Choreoathetosis
6792	CDKL5	HP:0001263	Global developmental delay
6792	CDKL5	HP:0001257	Spasticity
6792	CDKL5	HP:0007359	Focal-onset seizure
6792	CDKL5	HP:0002540	Inability to walk
6792	CDKL5	HP:0002521	Hypsarrhythmia
6792	CDKL5	HP:0002506	Diffuse cerebral atrophy
6792	CDKL5	HP:0002505	Loss of ambulation
6792	CDKL5	HP:0003808	Abnormal muscle tone
6792	CDKL5	HP:0025387	Pill-rolling tremor
6792	CDKL5	HP:0000070	Ureterocele
6792	CDKL5	HP:0000054	Micropenis
6792	CDKL5	HP:0031165	Multifocal seizures
6792	CDKL5	HP:0001332	Dystonia
6792	CDKL5	HP:0001337	Tremor
6792	CDKL5	HP:0001336	Myoclonus
6792	CDKL5	HP:0001302	Pachygyria
6792	CDKL5	HP:0002650	Scoliosis
6792	CDKL5	HP:0001319	Neonatal hypotonia
6792	CDKL5	HP:0012171	Stereotypical hand wringing
6792	CDKL5	HP:0000179	Thick lower lip vermilion
6792	CDKL5	HP:0000175	Cleft palate
6792	CDKL5	HP:0008947	Infantile muscular hypotonia
6792	CDKL5	HP:0002795	Abnormal respiratory system physiology
6792	CDKL5	HP:0002793	Abnormal pattern of respiration
6792	CDKL5	HP:0001423	X-linked dominant inheritance
6792	CDKL5	HP:0000110	Renal dysplasia
6792	CDKL5	HP:0032588	Hand apraxia
6792	CDKL5	HP:0002020	Gastroesophageal reflux
6792	CDKL5	HP:0002019	Constipation
6792	CDKL5	HP:0002002	Deep philtrum
6792	CDKL5	HP:0002069	Bilateral tonic-clonic seizure
6792	CDKL5	HP:0002066	Gait ataxia
6792	CDKL5	HP:0002079	Hypoplasia of the corpus callosum
6792	CDKL5	HP:0002123	Generalized myoclonic seizure
6792	CDKL5	HP:0002121	Generalized non-motor (absence) seizure
6792	CDKL5	HP:0002131	Episodic ataxia
6792	CDKL5	HP:0002186	Apraxia
6792	CDKL5	HP:0002187	Intellectual disability, profound
6792	CDKL5	HP:0002197	Generalized-onset seizure
6792	CDKL5	HP:0002194	Delayed gross motor development
6792	CDKL5	HP:0003593	Infantile onset
6792	CDKL5	HP:0100703	Tongue thrusting
6792	CDKL5	HP:0100704	Cerebral visual impairment
6792	CDKL5	HP:0100716	Self-injurious behavior
6792	CDKL5	HP:0200134	Epileptic encephalopathy
6792	CDKL5	HP:0011968	Feeding difficulties
6792	CDKL5	HP:0002360	Sleep disturbance
6792	CDKL5	HP:0002376	Developmental regression
6792	CDKL5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6792	CDKL5	HP:0002371	Loss of speech
6792	CDKL5	HP:0002355	Difficulty walking
6792	CDKL5	HP:0002353	EEG abnormality
6792	CDKL5	HP:0010841	Multifocal epileptiform discharges
6792	CDKL5	HP:0010845	EEG with generalized slow activity
6792	CDKL5	HP:0007204	Diffuse white matter abnormalities
6792	CDKL5	HP:0100660	Dyskinesia
6792	CDKL5	HP:0009852	Broad proximal phalanges of the hand
6792	CDKL5	HP:0010819	Atonic seizure
6792	CDKL5	HP:0010818	Generalized tonic seizure
6792	CDKL5	HP:0200055	Small hand
6792	CDKL5	HP:0002300	Mutism
6792	CDKL5	HP:0011344	Severe global developmental delay
6792	CDKL5	HP:0011343	Moderate global developmental delay
6792	CDKL5	HP:0000664	Synophrys
6792	CDKL5	HP:0006979	Sleep-wake cycle disturbance
6792	CDKL5	HP:0004302	Functional motor deficit
6792	CDKL5	HP:0004305	Involuntary movements
6792	CDKL5	HP:0000752	Hyperactivity
6792	CDKL5	HP:0100022	Abnormality of movement
6792	CDKL5	HP:0000735	Impaired social interactions
6792	CDKL5	HP:0012719	Functional abnormality of the gastrointestinal tract
6792	CDKL5	HP:0000748	Inappropriate laughter
6792	CDKL5	HP:0000713	Agitation
6792	CDKL5	HP:0000729	Autistic behavior
6792	CDKL5	HP:0000723	Restrictive behavior
6792	CDKL5	HP:0000707	Abnormality of the nervous system
6792	CDKL5	HP:0010174	Broad phalanx of the toes
6792	CDKL5	HP:0000817	Reduced eye contact
6792	CDKL5	HP:0000826	Precocious puberty
6792	CDKL5	HP:0045084	Limb myoclonus
6792	CDKL5	HP:0009381	Short finger
6792	CDKL5	HP:0002808	Kyphosis
6792	CDKL5	HP:0000253	Progressive microcephaly
6792	CDKL5	HP:0000252	Microcephaly
6792	CDKL5	HP:0002883	Hyperventilation
6792	CDKL5	HP:0002882	Sudden episodic apnea
6792	CDKL5	HP:0002876	Episodic tachypnea
6792	CDKL5	HP:0000232	Everted lower lip vermilion
6792	CDKL5	HP:0001537	Umbilical hernia
6792	CDKL5	HP:0001508	Failure to thrive
6792	CDKL5	HP:0001500	Broad finger
6792	CDKL5	HP:0001510	Growth delay
6792	CDKL5	HP:0007824	Total ophthalmoplegia
6792	CDKL5	HP:0000341	Narrow forehead
6792	CDKL5	HP:0000340	Sloping forehead
6792	CDKL5	HP:0000337	Broad forehead
6792	CDKL5	HP:0000348	High forehead
6792	CDKL5	HP:0001629	Ventricular septal defect
6792	CDKL5	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
6792	CDKL5	HP:0011169	Generalized clonic seizure
6792	CDKL5	HP:0005280	Depressed nasal bridge
6792	CDKL5	HP:0030215	Inappropriate crying
6792	CDKL5	HP:0000486	Strabismus
6792	CDKL5	HP:0012469	Infantile spasms
6792	CDKL5	HP:0012471	Thick vermilion border
6792	CDKL5	HP:0000490	Deeply set eye
6792	CDKL5	HP:0000463	Anteverted nares
6792	CDKL5	HP:0012448	Delayed myelination
6792	CDKL5	HP:0011121	Abnormality of skin morphology
6792	CDKL5	HP:0001773	Short foot
6792	CDKL5	HP:0005484	Secondary microcephaly
6792	CDKL5	HP:0001822	Hallux valgus
6792	CDKL5	HP:0012554	Absent thumbnail
6792	CDKL5	HP:0011220	Prominent forehead
6794	STK11	HP:0003745	Sporadic
6794	STK11	HP:0100833	Neoplasm of the small intestine
6794	STK11	HP:0002584	Intestinal bleeding
6794	STK11	HP:0002576	Intussusception
6794	STK11	HP:0008675	Enlarged polycystic ovaries
6794	STK11	HP:0001217	Clubbing
6794	STK11	HP:0012056	Cutaneous melanoma
6794	STK11	HP:0000069	Abnormality of the ureter
6794	STK11	HP:0000027	Azoospermia
6794	STK11	HP:0002664	Neoplasm
6794	STK11	HP:0002672	Gastrointestinal carcinoma
6794	STK11	HP:0000006	Autosomal dominant inheritance
6794	STK11	HP:0032451	Oral melanotic macule
6794	STK11	HP:0032454	Labial melanotic macule
6794	STK11	HP:0012126	Stomach cancer
6794	STK11	HP:0000138	Ovarian cyst
6794	STK11	HP:0410067	Increased level of L-fucose in urine
6794	STK11	HP:0006254	Elevated circulating alpha-fetoprotein concentration
6794	STK11	HP:0001428	Somatic mutation
6794	STK11	HP:0031261	Bladder polyp
6794	STK11	HP:0002035	Rectal prolapse
6794	STK11	HP:0002027	Abdominal pain
6794	STK11	HP:0002013	Vomiting
6794	STK11	HP:0100526	Neoplasm of the lung
6794	STK11	HP:0002086	Abnormality of the respiratory system
6794	STK11	HP:0100574	Biliary tract neoplasm
6794	STK11	HP:0100582	Nasal polyposis
6794	STK11	HP:0008204	Precocious puberty with Sertoli cell tumor
6794	STK11	HP:0002239	Gastrointestinal hemorrhage
6794	STK11	HP:0003581	Adult onset
6794	STK11	HP:0100768	Choriocarcinoma
6794	STK11	HP:0100751	Esophageal neoplasm
6794	STK11	HP:0100743	Neoplasm of the rectum
6794	STK11	HP:0100759	Clubbing of fingers
6794	STK11	HP:0001054	Numerous nevi
6794	STK11	HP:0001062	Atypical nevus
6794	STK11	HP:0001034	Hypermelanotic macule
6794	STK11	HP:0001003	Multiple lentigines
6794	STK11	HP:0100644	Melanonychia
6794	STK11	HP:0025085	Bloody diarrhea
6794	STK11	HP:0100669	Abnormal pigmentation of the oral mucosa
6794	STK11	HP:0001074	Atypical nevi in non-sun exposed areas
6794	STK11	HP:0001080	Biliary tract abnormality
6794	STK11	HP:0010784	Uterine neoplasm
6794	STK11	HP:0009792	Teratoma
6794	STK11	HP:0005584	Renal cell carcinoma
6794	STK11	HP:0005562	Multiple renal cysts
6794	STK11	HP:0001903	Anemia
6794	STK11	HP:0003002	Breast carcinoma
6794	STK11	HP:0004394	Multiple gastric polyps
6794	STK11	HP:0004390	Hamartomatous polyposis
6794	STK11	HP:0000771	Gynecomastia
6794	STK11	HP:0012733	Macule
6794	STK11	HP:0012720	Neoplasm of the nose
6794	STK11	HP:0011463	Childhood onset
6794	STK11	HP:0100273	Neoplasm of the colon
6794	STK11	HP:0034352	Bile duct polyp
6794	STK11	HP:0007716	Uveal melanoma
6794	STK11	HP:0030079	Cervix cancer
6794	STK11	HP:0002898	Embryonal neoplasm
6794	STK11	HP:0002894	Neoplasm of the pancreas
6794	STK11	HP:0005264	Abnormality of the gallbladder
6794	STK11	HP:0005244	Gastrointestinal infarctions
6794	STK11	HP:0005214	Intestinal obstruction
6794	STK11	HP:0011024	Abnormality of the gastrointestinal tract
6794	STK11	HP:0000366	Abnormality of the nose
6794	STK11	HP:0000478	Abnormality of the eye
6794	STK11	HP:0006725	Pancreatic adenocarcinoma
6794	STK11	HP:0001891	Iron deficiency anemia
6795	AURKC	HP:0000007	Autosomal recessive inheritance
6795	AURKC	HP:0025437	Macrocephalic sperm head
6795	AURKC	HP:0011462	Young adult onset
6795	AURKC	HP:0003251	Male infertility
6795	AURKC	HP:0034309	Multiflagellar spermatozoa
6804	STX1A	HP:0001181	Adducted thumb
6804	STX1A	HP:0001136	Retinal arteriolar tortuosity
6804	STX1A	HP:0032261	Nontuberculous mycobacterial pulmonary infection
6804	STX1A	HP:0010880	Increased nuchal translucency
6804	STX1A	HP:0001297	Stroke
6804	STX1A	HP:0100817	Renovascular hypertension
6804	STX1A	HP:0001288	Gait disturbance
6804	STX1A	HP:0001252	Hypotonia
6804	STX1A	HP:0001251	Ataxia
6804	STX1A	HP:0001249	Intellectual disability
6804	STX1A	HP:0001260	Dysarthria
6804	STX1A	HP:0001257	Spasticity
6804	STX1A	HP:0001231	Abnormal fingernail morphology
6804	STX1A	HP:0002575	Tracheoesophageal fistula
6804	STX1A	HP:0002570	Steatorrhea
6804	STX1A	HP:0008736	Hypoplasia of penis
6804	STX1A	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
6804	STX1A	HP:0008661	Urethral stenosis
6804	STX1A	HP:0032342	Reduced forced expiratory volume in one second
6804	STX1A	HP:0000089	Renal hypoplasia
6804	STX1A	HP:0000083	Renal insufficiency
6804	STX1A	HP:0000093	Proteinuria
6804	STX1A	HP:0001392	Abnormality of the liver
6804	STX1A	HP:0001394	Cirrhosis
6804	STX1A	HP:0000076	Vesicoureteral reflux
6804	STX1A	HP:0000075	Renal duplication
6804	STX1A	HP:0000044	Hypogonadotropic hypogonadism
6804	STX1A	HP:0001388	Joint laxity
6804	STX1A	HP:0001387	Joint stiffness
6804	STX1A	HP:0000023	Inguinal hernia
6804	STX1A	HP:0000015	Bladder diverticulum
6804	STX1A	HP:0000014	Abnormality of the bladder
6804	STX1A	HP:0001347	Hyperreflexia
6804	STX1A	HP:0001361	Nystagmus-induced head nodding
6804	STX1A	HP:0000025	Functional abnormality of male internal genitalia
6804	STX1A	HP:0000028	Cryptorchidism
6804	STX1A	HP:0007495	Prematurely aged appearance
6804	STX1A	HP:0007477	Abnormal dermatoglyphics
6804	STX1A	HP:0000010	Recurrent urinary tract infections
6804	STX1A	HP:0001337	Tremor
6804	STX1A	HP:0001310	Dysmetria
6804	STX1A	HP:0002637	Cerebral ischemia
6804	STX1A	HP:0002650	Scoliosis
6804	STX1A	HP:0002644	Abnormal pelvic girdle bone morphology
6804	STX1A	HP:0002623	Overriding aorta
6804	STX1A	HP:0000179	Thick lower lip vermilion
6804	STX1A	HP:0000158	Macroglossia
6804	STX1A	HP:0000154	Wide mouth
6804	STX1A	HP:0000147	Polycystic ovaries
6804	STX1A	HP:0000121	Nephrocalcinosis
6804	STX1A	HP:0000125	Pelvic kidney
6804	STX1A	HP:0002750	Delayed skeletal maturation
6804	STX1A	HP:0002726	Recurrent Staphylococcus aureus infections
6804	STX1A	HP:0002724	Recurrent Aspergillus infections
6804	STX1A	HP:0002024	Malabsorption
6804	STX1A	HP:0002020	Gastroesophageal reflux
6804	STX1A	HP:0002019	Constipation
6804	STX1A	HP:0002017	Nausea and vomiting
6804	STX1A	HP:0002035	Rectal prolapse
6804	STX1A	HP:0002027	Abdominal pain
6804	STX1A	HP:0003312	Abnormal form of the vertebral bodies
6804	STX1A	HP:0003307	Hyperlordosis
6804	STX1A	HP:0005978	Type II diabetes mellitus
6804	STX1A	HP:0100539	Periorbital edema
6804	STX1A	HP:0100545	Arterial stenosis
6804	STX1A	HP:0002099	Asthma
6804	STX1A	HP:0002071	Abnormality of extrapyramidal motor function
6804	STX1A	HP:0100582	Nasal polyposis
6804	STX1A	HP:0002141	Gait imbalance
6804	STX1A	HP:0002150	Hypercalciuria
6804	STX1A	HP:0002120	Cerebral cortical atrophy
6804	STX1A	HP:0002110	Bronchiectasis
6804	STX1A	HP:0002107	Pneumothorax
6804	STX1A	HP:0002105	Hemoptysis
6804	STX1A	HP:0003422	Vertebral segmentation defect
6804	STX1A	HP:0002183	Phonophobia
6804	STX1A	HP:0002167	Abnormality of speech or vocalization
6804	STX1A	HP:0010526	Dysgraphia
6804	STX1A	HP:0002253	Colonic diverticula
6804	STX1A	HP:0002205	Recurrent respiratory infections
6804	STX1A	HP:0100785	Insomnia
6804	STX1A	HP:0010662	Abnormality of the diencephalon
6804	STX1A	HP:0010669	Hypoplasia of the zygomatic bone
6804	STX1A	HP:0007018	Attention deficit hyperactivity disorder
6804	STX1A	HP:0001052	Nevus flammeus
6804	STX1A	HP:0002376	Developmental regression
6804	STX1A	HP:0200021	Down-sloping shoulders
6804	STX1A	HP:0100659	Abnormal cerebral vascular morphology
6804	STX1A	HP:0010807	Open bite
6804	STX1A	HP:0100613	Death in early adulthood
6804	STX1A	HP:0001081	Cholelithiasis
6804	STX1A	HP:0008499	High hypermetropia
6804	STX1A	HP:0010780	Hyperacusis
6804	STX1A	HP:0002308	Chiari malformation
6804	STX1A	HP:0004969	Peripheral pulmonary artery stenosis
6804	STX1A	HP:0004209	Clinodactyly of the 5th finger
6804	STX1A	HP:0004295	Abnormal gastric mucosa morphology
6804	STX1A	HP:0005562	Multiple renal cysts
6804	STX1A	HP:0001969	Abnormal tubulointerstitial morphology
6804	STX1A	HP:0000635	Blue irides
6804	STX1A	HP:0000632	Lacrimation abnormality
6804	STX1A	HP:0000627	Posterior embryotoxon
6804	STX1A	HP:0000682	Abnormal dental enamel morphology
6804	STX1A	HP:0000691	Microdontia
6804	STX1A	HP:0000689	Dental malocclusion
6804	STX1A	HP:0000670	Carious teeth
6804	STX1A	HP:0012639	Abnormal nervous system morphology
6804	STX1A	HP:0000668	Hypodontia
6804	STX1A	HP:0004322	Short stature
6804	STX1A	HP:0004306	Abnormal endocardium morphology
6804	STX1A	HP:0004305	Involuntary movements
6804	STX1A	HP:0003072	Hypercalcemia
6804	STX1A	HP:0004381	Supravalvular aortic stenosis
6804	STX1A	HP:0004398	Peptic ulcer
6804	STX1A	HP:0005692	Joint hyperflexibility
6804	STX1A	HP:0003028	Abnormality of the ankle
6804	STX1A	HP:0100025	Overfriendliness
6804	STX1A	HP:0000767	Pectus excavatum
6804	STX1A	HP:0000739	Anxiety
6804	STX1A	HP:0000716	Depression
6804	STX1A	HP:0000717	Autism
6804	STX1A	HP:0000722	Compulsive behaviors
6804	STX1A	HP:0000787	Nephrolithiasis
6804	STX1A	HP:0003119	Abnormal circulating lipid concentration
6804	STX1A	HP:0004428	Elfin facies
6804	STX1A	HP:0004401	Meconium ileus
6804	STX1A	HP:0003198	Myopathy
6804	STX1A	HP:0003196	Short nose
6804	STX1A	HP:0000826	Precocious puberty
6804	STX1A	HP:0000822	Hypertension
6804	STX1A	HP:0000821	Hypothyroidism
6804	STX1A	HP:0012873	Absent vas deferens
6804	STX1A	HP:0003236	Elevated circulating creatine kinase concentration
6804	STX1A	HP:0003298	Spina bifida occulta
6804	STX1A	HP:0045082	Decreased body mass index
6804	STX1A	HP:0000960	Sacral dimple
6804	STX1A	HP:0000939	Osteoporosis
6804	STX1A	HP:0000938	Osteopenia
6804	STX1A	HP:0100240	Synostosis of joints
6804	STX1A	HP:0008053	Aplasia/Hypoplasia of the iris
6804	STX1A	HP:0007720	Flat cornea
6804	STX1A	HP:0000286	Epicanthus
6804	STX1A	HP:0000280	Coarse facial features
6804	STX1A	HP:0000275	Narrow face
6804	STX1A	HP:0012236	Elevated sweat chloride
6804	STX1A	HP:0005113	Aortic arch aneurysm
6804	STX1A	HP:0002829	Arthralgia
6804	STX1A	HP:0002808	Kyphosis
6804	STX1A	HP:0000252	Microcephaly
6804	STX1A	HP:0001582	Redundant skin
6804	STX1A	HP:0000246	Sinusitis
6804	STX1A	HP:0000212	Gingival overgrowth
6804	STX1A	HP:0000232	Everted lower lip vermilion
6804	STX1A	HP:0001531	Failure to thrive in infancy
6804	STX1A	HP:0002857	Genu valgum
6804	STX1A	HP:0001537	Umbilical hernia
6804	STX1A	HP:0001508	Failure to thrive
6804	STX1A	HP:0001513	Obesity
6804	STX1A	HP:0002842	Recurrent Burkholderia cepacia infections
6804	STX1A	HP:0000389	Chronic otitis media
6804	STX1A	HP:0006536	Airway obstruction
6804	STX1A	HP:0001609	Hoarse voice
6804	STX1A	HP:0001608	Abnormality of the voice
6804	STX1A	HP:0001618	Dysphonia
6804	STX1A	HP:0002910	Elevated hepatic transaminase
6804	STX1A	HP:0006482	Abnormality of dental morphology
6804	STX1A	HP:0000365	Hearing impairment
6804	STX1A	HP:0000368	Low-set, posteriorly rotated ears
6804	STX1A	HP:0001671	Abnormal cardiac septum morphology
6804	STX1A	HP:0000343	Long philtrum
6804	STX1A	HP:0011001	Increased bone mineral density
6804	STX1A	HP:0000337	Broad forehead
6804	STX1A	HP:0002999	Patellar dislocation
6804	STX1A	HP:0000348	High forehead
6804	STX1A	HP:0000347	Micrognathia
6804	STX1A	HP:0001647	Bicuspid aortic valve
6804	STX1A	HP:0001643	Patent ductus arteriosus
6804	STX1A	HP:0001642	Pulmonic stenosis
6804	STX1A	HP:0001645	Sudden cardiac death
6804	STX1A	HP:0002974	Radioulnar synostosis
6804	STX1A	HP:0001658	Myocardial infarction
6804	STX1A	HP:0001653	Mitral regurgitation
6804	STX1A	HP:0001629	Ventricular septal defect
6804	STX1A	HP:0001626	Abnormality of the cardiovascular system
6804	STX1A	HP:0001640	Cardiomegaly
6804	STX1A	HP:0001639	Hypertrophic cardiomyopathy
6804	STX1A	HP:0001636	Tetralogy of Fallot
6804	STX1A	HP:0001635	Congestive heart failure
6804	STX1A	HP:0000307	Pointed chin
6804	STX1A	HP:0001631	Atrial septal defect
6804	STX1A	HP:0001634	Mitral valve prolapse
6804	STX1A	HP:0007957	Corneal opacity
6804	STX1A	HP:0005376	Recurrent Haemophilus influenzae infections
6804	STX1A	HP:0005344	Abnormal carotid artery morphology
6804	STX1A	HP:0001738	Exocrine pancreatic insufficiency
6804	STX1A	HP:0000407	Sensorineural hearing impairment
6804	STX1A	HP:0000400	Macrotia
6804	STX1A	HP:0000486	Strabismus
6804	STX1A	HP:0000485	Megalocornea
6804	STX1A	HP:0000464	Abnormality of the neck
6804	STX1A	HP:0012433	Abnormal social behavior
6804	STX1A	HP:0001763	Pes planus
6804	STX1A	HP:0000411	Protruding ear
6804	STX1A	HP:0000431	Wide nasal bridge
6804	STX1A	HP:0000518	Cataract
6804	STX1A	HP:0001822	Hallux valgus
6804	STX1A	HP:0000505	Visual impairment
6804	STX1A	HP:0000501	Glaucoma
6804	STX1A	HP:0001800	Hypoplastic toenails
6804	STX1A	HP:0000581	Blepharophimosis
6804	STX1A	HP:0000545	Myopia
6809	STX3	HP:0001141	Severely reduced visual acuity
6809	STX3	HP:0001263	Global developmental delay
6809	STX3	HP:0000007	Autosomal recessive inheritance
6809	STX3	HP:0000121	Nephrocalcinosis
6809	STX3	HP:0002783	Recurrent lower respiratory tract infections
6809	STX3	HP:0002788	Recurrent upper respiratory tract infections
6809	STX3	HP:0002028	Chronic diarrhea
6809	STX3	HP:0002014	Diarrhea
6809	STX3	HP:0002013	Vomiting
6809	STX3	HP:0002110	Bronchiectasis
6809	STX3	HP:0011947	Respiratory tract infection
6809	STX3	HP:0003623	Neonatal onset
6809	STX3	HP:0000639	Nystagmus
6809	STX3	HP:0001944	Dehydration
6809	STX3	HP:0001942	Metabolic acidosis
6809	STX3	HP:0011473	Villous atrophy
6809	STX3	HP:0011472	Abnormality of small intestinal villus morphology
6809	STX3	HP:0003270	Abdominal distention
6809	STX3	HP:0000989	Pruritus
6809	STX3	HP:0000938	Osteopenia
6809	STX3	HP:0012211	Abnormal renal physiology
6809	STX3	HP:0033994	Dependency on parenteral nutrition
6809	STX3	HP:0033996	Microvillar PAS-positive secretory granules
6809	STX3	HP:0033995	Microvillus inclusions
6809	STX3	HP:0001522	Death in infancy
6809	STX3	HP:0005208	Secretory diarrhea
6809	STX3	HP:0011106	Hypovolemia
6809	STX3	HP:0000543	Optic disc pallor
6812	STXBP1	HP:0001151	Impaired horizontal smooth pursuit
6812	STXBP1	HP:0010864	Intellectual disability, severe
6812	STXBP1	HP:0010851	EEG with burst suppression
6812	STXBP1	HP:0001270	Motor delay
6812	STXBP1	HP:0001285	Spastic tetraparesis
6812	STXBP1	HP:0001250	Seizure
6812	STXBP1	HP:0001252	Hypotonia
6812	STXBP1	HP:0001266	Choreoathetosis
6812	STXBP1	HP:0001258	Spastic paraplegia
6812	STXBP1	HP:0002540	Inability to walk
6812	STXBP1	HP:0002553	Highly arched eyebrow
6812	STXBP1	HP:0002521	Hypsarrhythmia
6812	STXBP1	HP:0002518	Abnormal periventricular white matter morphology
6812	STXBP1	HP:0002510	Spastic tetraplegia
6812	STXBP1	HP:0000077	Abnormality of the kidney
6812	STXBP1	HP:0000046	Small scrotum
6812	STXBP1	HP:0000054	Micropenis
6812	STXBP1	HP:0001357	Plagiocephaly
6812	STXBP1	HP:0000028	Cryptorchidism
6812	STXBP1	HP:0001344	Absent speech
6812	STXBP1	HP:0001337	Tremor
6812	STXBP1	HP:0000006	Autosomal dominant inheritance
6812	STXBP1	HP:0000160	Narrow mouth
6812	STXBP1	HP:0008936	Axial hypotonia
6812	STXBP1	HP:0002019	Constipation
6812	STXBP1	HP:0002003	Large forehead
6812	STXBP1	HP:0002015	Dysphagia
6812	STXBP1	HP:0002099	Asthma
6812	STXBP1	HP:0002069	Bilateral tonic-clonic seizure
6812	STXBP1	HP:0002079	Hypoplasia of the corpus callosum
6812	STXBP1	HP:0002059	Cerebral atrophy
6812	STXBP1	HP:0002123	Generalized myoclonic seizure
6812	STXBP1	HP:0002133	Status epilepticus
6812	STXBP1	HP:0002188	Delayed CNS myelination
6812	STXBP1	HP:0002187	Intellectual disability, profound
6812	STXBP1	HP:0002164	Nail dysplasia
6812	STXBP1	HP:0011825	Tented philtrum
6812	STXBP1	HP:0011822	Broad chin
6812	STXBP1	HP:0003593	Infantile onset
6812	STXBP1	HP:0010720	Abnormal hair pattern
6812	STXBP1	HP:0200134	Epileptic encephalopathy
6812	STXBP1	HP:0010665	Bilateral coxa valga
6812	STXBP1	HP:0002376	Developmental regression
6812	STXBP1	HP:0001009	Telangiectasia
6812	STXBP1	HP:0010818	Generalized tonic seizure
6812	STXBP1	HP:0200005	Abnormal shape of the palpebral fissure
6812	STXBP1	HP:0100633	Esophagitis
6812	STXBP1	HP:0007105	Infantile encephalopathy
6812	STXBP1	HP:0003623	Neonatal onset
6812	STXBP1	HP:0006855	Cerebellar vermis atrophy
6812	STXBP1	HP:0006808	Cerebral hypomyelination
6812	STXBP1	HP:0011344	Severe global developmental delay
6812	STXBP1	HP:0003065	Patellar hypoplasia
6812	STXBP1	HP:0000750	Delayed speech and language development
6812	STXBP1	HP:0000708	Atypical behavior
6812	STXBP1	HP:0000954	Single transverse palmar crease
6812	STXBP1	HP:0000293	Full cheeks
6812	STXBP1	HP:0006471	Fixed elbow flexion
6812	STXBP1	HP:0006443	Patellar aplasia
6812	STXBP1	HP:0000252	Microcephaly
6812	STXBP1	HP:0000248	Brachycephaly
6812	STXBP1	HP:0000233	Thin vermilion border
6812	STXBP1	HP:0011097	Epileptic spasm
6812	STXBP1	HP:0000377	Abnormal pinna morphology
6812	STXBP1	HP:0000369	Low-set ears
6812	STXBP1	HP:0002999	Patellar dislocation
6812	STXBP1	HP:0001643	Patent ductus arteriosus
6812	STXBP1	HP:0000311	Round face
6812	STXBP1	HP:0000483	Astigmatism
6812	STXBP1	HP:0000486	Strabismus
6812	STXBP1	HP:0000470	Short neck
6812	STXBP1	HP:0000465	Webbed neck
6812	STXBP1	HP:0000445	Wide nose
6812	STXBP1	HP:0000414	Bulbous nose
6812	STXBP1	HP:0001762	Talipes equinovarus
6812	STXBP1	HP:0000421	Epistaxis
6812	STXBP1	HP:0005487	Prominent metopic ridge
6812	STXBP1	HP:0000506	Telecanthus
6813	STXBP2	HP:0008573	Low-frequency sensorineural hearing impairment
6813	STXBP2	HP:0001250	Seizure
6813	STXBP2	HP:0002583	Colitis
6813	STXBP2	HP:0001259	Coma
6813	STXBP2	HP:0002500	Abnormal cerebral white matter morphology
6813	STXBP2	HP:0000007	Autosomal recessive inheritance
6813	STXBP2	HP:0002611	Cholestatic liver disease
6813	STXBP2	HP:0012177	Abnormal natural killer cell physiology
6813	STXBP2	HP:0012178	Reduced natural killer cell activity
6813	STXBP2	HP:0012156	Hemophagocytosis
6813	STXBP2	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
6813	STXBP2	HP:0002788	Recurrent upper respiratory tract infections
6813	STXBP2	HP:0001433	Hepatosplenomegaly
6813	STXBP2	HP:0001410	Decreased liver function
6813	STXBP2	HP:0002716	Lymphadenopathy
6813	STXBP2	HP:0002086	Abnormality of the respiratory system
6813	STXBP2	HP:0002155	Hypertriglyceridemia
6813	STXBP2	HP:0011900	Hypofibrinogenemia
6813	STXBP2	HP:0003593	Infantile onset
6813	STXBP2	HP:0002240	Hepatomegaly
6813	STXBP2	HP:0002383	Infectious encephalitis
6813	STXBP2	HP:0001019	Erythroderma
6813	STXBP2	HP:0009830	Peripheral neuropathy
6813	STXBP2	HP:0001945	Fever
6813	STXBP2	HP:0001954	Recurrent fever
6813	STXBP2	HP:0001903	Anemia
6813	STXBP2	HP:0004302	Functional motor deficit
6813	STXBP2	HP:0004313	Decreased circulating antibody level
6813	STXBP2	HP:0003073	Hypoalbuminemia
6813	STXBP2	HP:0000707	Abnormality of the nervous system
6813	STXBP2	HP:0011463	Childhood onset
6813	STXBP2	HP:0030783	Increased circulating interleukin 6 concentration
6813	STXBP2	HP:0003281	Increased circulating ferritin concentration
6813	STXBP2	HP:0003256	Abnormality of the coagulation cascade
6813	STXBP2	HP:0000979	Purpura
6813	STXBP2	HP:0000978	Bruising susceptibility
6813	STXBP2	HP:0000988	Skin rash
6813	STXBP2	HP:0000952	Jaundice
6813	STXBP2	HP:0000967	Petechiae
6813	STXBP2	HP:0040186	Maculopapular exanthema
6813	STXBP2	HP:0012229	CSF pleocytosis
6813	STXBP2	HP:0012211	Abnormal renal physiology
6813	STXBP2	HP:0031364	Ecchymosis
6813	STXBP2	HP:0006530	Abnormal pulmonary interstitial morphology
6813	STXBP2	HP:0002910	Elevated hepatic transaminase
6813	STXBP2	HP:0002958	Immune dysregulation
6813	STXBP2	HP:0000407	Sensorineural hearing impairment
6813	STXBP2	HP:0011118	Abnormality of tumor necrosis factor secretion
6813	STXBP2	HP:0011121	Abnormality of skin morphology
6813	STXBP2	HP:0011108	Recurrent sinusitis
6813	STXBP2	HP:0011112	Abnormality of serum cytokine level
6813	STXBP2	HP:0001744	Splenomegaly
6813	STXBP2	HP:0030356	Increased circulating interferon-gamma concentration
6813	STXBP2	HP:0001873	Thrombocytopenia
6813	STXBP2	HP:0001875	Neutropenia
6820	SULT2B1	HP:0100806	Sepsis
6820	SULT2B1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
6820	SULT2B1	HP:0000083	Renal insufficiency
6820	SULT2B1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
6820	SULT2B1	HP:0000007	Autosomal recessive inheritance
6820	SULT2B1	HP:0000164	Abnormality of the dentition
6820	SULT2B1	HP:0100543	Cognitive impairment
6820	SULT2B1	HP:0003577	Congenital onset
6820	SULT2B1	HP:0002205	Recurrent respiratory infections
6820	SULT2B1	HP:0100758	Gangrene
6820	SULT2B1	HP:0001019	Erythroderma
6820	SULT2B1	HP:0025080	Orthokeratotic hyperkeratosis
6820	SULT2B1	HP:0100679	Lack of skin elasticity
6820	SULT2B1	HP:0010783	Erythema
6820	SULT2B1	HP:0001944	Dehydration
6820	SULT2B1	HP:0000656	Ectropion
6820	SULT2B1	HP:0004322	Short stature
6820	SULT2B1	HP:0000989	Pruritus
6820	SULT2B1	HP:0000958	Dry skin
6820	SULT2B1	HP:0000962	Hyperkeratosis
6820	SULT2B1	HP:0008070	Sparse hair
6820	SULT2B1	HP:0008064	Ichthyosis
6820	SULT2B1	HP:0040189	Scaling skin
6820	SULT2B1	HP:0001597	Abnormality of the nail
6820	SULT2B1	HP:0000232	Everted lower lip vermilion
6820	SULT2B1	HP:0011039	Abnormal helix morphology
6820	SULT2B1	HP:0000389	Chronic otitis media
6821	SUOX	HP:0007325	Generalized dystonia
6821	SUOX	HP:0010864	Intellectual disability, severe
6821	SUOX	HP:0001290	Generalized hypotonia
6821	SUOX	HP:0001276	Hypertonia
6821	SUOX	HP:0001251	Ataxia
6821	SUOX	HP:0001266	Choreoathetosis
6821	SUOX	HP:0001263	Global developmental delay
6821	SUOX	HP:0002572	Episodic vomiting
6821	SUOX	HP:0032350	Sulfocysteinuria
6821	SUOX	HP:0001344	Absent speech
6821	SUOX	HP:0000007	Autosomal recessive inheritance
6821	SUOX	HP:0001321	Cerebellar hypoplasia
6821	SUOX	HP:0008947	Infantile muscular hypotonia
6821	SUOX	HP:0008936	Axial hypotonia
6821	SUOX	HP:0003359	Decreased urinary sulfate
6821	SUOX	HP:0002069	Bilateral tonic-clonic seizure
6821	SUOX	HP:0002059	Cerebral atrophy
6821	SUOX	HP:0100704	Cerebral visual impairment
6821	SUOX	HP:0002213	Fine hair
6821	SUOX	HP:0011942	Increased urinary sulfite
6821	SUOX	HP:0010841	Multifocal epileptiform discharges
6821	SUOX	HP:0100660	Dyskinesia
6821	SUOX	HP:0001083	Ectopia lentis
6821	SUOX	HP:0002301	Hemiplegia
6821	SUOX	HP:0003623	Neonatal onset
6821	SUOX	HP:0003643	Sulfite oxidase deficiency
6821	SUOX	HP:0001942	Metabolic acidosis
6821	SUOX	HP:0000684	Delayed eruption of teeth
6821	SUOX	HP:0000713	Agitation
6821	SUOX	HP:0003236	Elevated circulating creatine kinase concentration
6821	SUOX	HP:0030890	Hyperintensity of cerebral white matter on MRI
6821	SUOX	HP:0000964	Eczema
6821	SUOX	HP:0000252	Microcephaly
6821	SUOX	HP:0001522	Death in infancy
6821	SUOX	HP:0000341	Narrow forehead
6821	SUOX	HP:0000400	Macrotia
6821	SUOX	HP:0000490	Deeply set eye
6833	ABCC8	HP:0010935	Abnormality of the upper urinary tract
6833	ABCC8	HP:0009894	Thickened ears
6833	ABCC8	HP:0010864	Intellectual disability, severe
6833	ABCC8	HP:0001290	Generalized hypotonia
6833	ABCC8	HP:0001270	Motor delay
6833	ABCC8	HP:0001279	Syncope
6833	ABCC8	HP:0001254	Lethargy
6833	ABCC8	HP:0001250	Seizure
6833	ABCC8	HP:0001252	Hypotonia
6833	ABCC8	HP:0001251	Ataxia
6833	ABCC8	HP:0001249	Intellectual disability
6833	ABCC8	HP:0002594	Pancreatic hypoplasia
6833	ABCC8	HP:0002591	Polyphagia
6833	ABCC8	HP:0001263	Global developmental delay
6833	ABCC8	HP:0001257	Spasticity
6833	ABCC8	HP:0001259	Coma
6833	ABCC8	HP:0031084	Excessive insulin response to glucagon test
6833	ABCC8	HP:0002521	Hypsarrhythmia
6833	ABCC8	HP:0000077	Abnormality of the kidney
6833	ABCC8	HP:0000079	Abnormality of the urinary system
6833	ABCC8	HP:0012028	Hepatocellular adenoma
6833	ABCC8	HP:0001347	Hyperreflexia
6833	ABCC8	HP:0001324	Muscle weakness
6833	ABCC8	HP:0001325	Hypoglycemic coma
6833	ABCC8	HP:0000007	Autosomal recessive inheritance
6833	ABCC8	HP:0000006	Autosomal dominant inheritance
6833	ABCC8	HP:0000158	Macroglossia
6833	ABCC8	HP:0001488	Bilateral ptosis
6833	ABCC8	HP:0008936	Axial hypotonia
6833	ABCC8	HP:0006274	Reduced pancreatic beta cells
6833	ABCC8	HP:0000119	Abnormality of the genitourinary system
6833	ABCC8	HP:0000124	Renal tubular dysfunction
6833	ABCC8	HP:0000112	Nephropathy
6833	ABCC8	HP:0000107	Renal cyst
6833	ABCC8	HP:0031223	Focal pancreatic islet hyperplasia
6833	ABCC8	HP:0031224	Diffuse pancreatic islet hyperplasia
6833	ABCC8	HP:0002714	Downturned corners of mouth
6833	ABCC8	HP:0002013	Vomiting
6833	ABCC8	HP:0005978	Type II diabetes mellitus
6833	ABCC8	HP:0002069	Bilateral tonic-clonic seizure
6833	ABCC8	HP:0040299	Decreased circulating free fatty acid level
6833	ABCC8	HP:0003477	Peripheral axonal neuropathy
6833	ABCC8	HP:0002123	Generalized myoclonic seizure
6833	ABCC8	HP:0002133	Status epilepticus
6833	ABCC8	HP:0002186	Apraxia
6833	ABCC8	HP:0002173	Hypoglycemic seizures
6833	ABCC8	HP:0008255	Transient neonatal diabetes mellitus
6833	ABCC8	HP:0002240	Hepatomegaly
6833	ABCC8	HP:0003584	Late onset
6833	ABCC8	HP:0011968	Feeding difficulties
6833	ABCC8	HP:0001069	Episodic hyperhidrosis
6833	ABCC8	HP:0003698	Difficulty standing
6833	ABCC8	HP:0002329	Drowsiness
6833	ABCC8	HP:0100651	Type I diabetes mellitus
6833	ABCC8	HP:0009830	Peripheral neuropathy
6833	ABCC8	HP:0009800	Maternal diabetes
6833	ABCC8	HP:0003623	Neonatal onset
6833	ABCC8	HP:0002305	Athetosis
6833	ABCC8	HP:0004924	Abnormal oral glucose tolerance
6833	ABCC8	HP:0007185	Loss of consciousness
6833	ABCC8	HP:0004904	Maturity-onset diabetes of the young
6833	ABCC8	HP:0031819	Increased waist to hip ratio
6833	ABCC8	HP:0001962	Palpitations
6833	ABCC8	HP:0001944	Dehydration
6833	ABCC8	HP:0001943	Hypoglycemia
6833	ABCC8	HP:0001953	Diabetic ketoacidosis
6833	ABCC8	HP:0001952	Glucose intolerance
6833	ABCC8	HP:0011342	Mild global developmental delay
6833	ABCC8	HP:0001985	Hypoketotic hypoglycemia
6833	ABCC8	HP:0001998	Neonatal hypoglycemia
6833	ABCC8	HP:0003076	Glycosuria
6833	ABCC8	HP:0003074	Hyperglycemia
6833	ABCC8	HP:0000737	Irritability
6833	ABCC8	HP:0000713	Agitation
6833	ABCC8	HP:0000707	Abnormality of the nervous system
6833	ABCC8	HP:0012758	Neurodevelopmental delay
6833	ABCC8	HP:0012759	Neurodevelopmental abnormality
6833	ABCC8	HP:0005750	Lower-limb joint contracture
6833	ABCC8	HP:0030796	Increased C-peptide level
6833	ABCC8	HP:0030794	Abnormal circulating C-peptide concentration
6833	ABCC8	HP:0003196	Short nose
6833	ABCC8	HP:0003162	Fasting hypoglycemia
6833	ABCC8	HP:0000855	Insulin resistance
6833	ABCC8	HP:0000857	Neonatal insulin-dependent diabetes mellitus
6833	ABCC8	HP:0000831	Insulin-resistant diabetes mellitus
6833	ABCC8	HP:0000842	Hyperinsulinemia
6833	ABCC8	HP:0000825	Hyperinsulinemic hypoglycemia
6833	ABCC8	HP:0000821	Hypothyroidism
6833	ABCC8	HP:0040025	Clinodactyly of the 4th finger
6833	ABCC8	HP:0040064	Abnormality of limbs
6833	ABCC8	HP:0040214	Abnormal circulating insulin concentration
6833	ABCC8	HP:0040217	Elevated hemoglobin A1c
6833	ABCC8	HP:0040216	Hypoinsulinemia
6833	ABCC8	HP:0004510	Pancreatic islet-cell hyperplasia
6833	ABCC8	HP:0000980	Pallor
6833	ABCC8	HP:0000956	Acanthosis nigricans
6833	ABCC8	HP:0030057	Autoimmune antibody positivity
6833	ABCC8	HP:0002804	Arthrogryposis multiplex congenita
6833	ABCC8	HP:0025502	Overweight
6833	ABCC8	HP:0001537	Umbilical hernia
6833	ABCC8	HP:0001508	Failure to thrive
6833	ABCC8	HP:0001520	Large for gestational age
6833	ABCC8	HP:0001518	Small for gestational age
6833	ABCC8	HP:0001511	Intrauterine growth retardation
6833	ABCC8	HP:0001513	Obesity
6833	ABCC8	HP:0002919	Ketonuria
6833	ABCC8	HP:0000365	Hearing impairment
6833	ABCC8	HP:0000343	Long philtrum
6833	ABCC8	HP:0001649	Tachycardia
6833	ABCC8	HP:0001627	Abnormal heart morphology
6833	ABCC8	HP:0001639	Hypertrophic cardiomyopathy
6833	ABCC8	HP:0011182	Interictal epileptiform activity
6833	ABCC8	HP:0001738	Exocrine pancreatic insufficiency
6833	ABCC8	HP:0000486	Strabismus
6833	ABCC8	HP:0000488	Retinopathy
6833	ABCC8	HP:0000463	Anteverted nares
6833	ABCC8	HP:0012434	Delayed social development
6833	ABCC8	HP:0011106	Hypovolemia
6833	ABCC8	HP:0005487	Prominent metopic ridge
6833	ABCC8	HP:0001824	Weight loss
6833	ABCC8	HP:0012594	Moderate albuminuria
6834	SURF1	HP:0002490	Increased CSF lactate
6834	SURF1	HP:0002453	Abnormal globus pallidus morphology
6834	SURF1	HP:0010864	Intellectual disability, severe
6834	SURF1	HP:0002415	Leukodystrophy
6834	SURF1	HP:0001290	Generalized hypotonia
6834	SURF1	HP:0001276	Hypertonia
6834	SURF1	HP:0001270	Motor delay
6834	SURF1	HP:0001268	Mental deterioration
6834	SURF1	HP:0001284	Areflexia
6834	SURF1	HP:0001250	Seizure
6834	SURF1	HP:0001252	Hypotonia
6834	SURF1	HP:0001251	Ataxia
6834	SURF1	HP:0001249	Intellectual disability
6834	SURF1	HP:0001260	Dysarthria
6834	SURF1	HP:0001263	Global developmental delay
6834	SURF1	HP:0001257	Spasticity
6834	SURF1	HP:0002538	Abnormal cerebral cortex morphology
6834	SURF1	HP:0003828	Variable expressivity
6834	SURF1	HP:0003819	Death in childhood
6834	SURF1	HP:0000091	Abnormal renal tubule morphology
6834	SURF1	HP:0000093	Proteinuria
6834	SURF1	HP:0001348	Brisk reflexes
6834	SURF1	HP:0001347	Hyperreflexia
6834	SURF1	HP:0001332	Dystonia
6834	SURF1	HP:0001324	Muscle weakness
6834	SURF1	HP:0000007	Autosomal recessive inheritance
6834	SURF1	HP:0001488	Bilateral ptosis
6834	SURF1	HP:0008972	Decreased activity of mitochondrial respiratory chain
6834	SURF1	HP:0008947	Infantile muscular hypotonia
6834	SURF1	HP:0000124	Renal tubular dysfunction
6834	SURF1	HP:0001427	Mitochondrial inheritance
6834	SURF1	HP:0000110	Renal dysplasia
6834	SURF1	HP:0000104	Renal agenesis
6834	SURF1	HP:0001410	Decreased liver function
6834	SURF1	HP:0002751	Kyphoscoliosis
6834	SURF1	HP:0002747	Respiratory insufficiency due to muscle weakness
6834	SURF1	HP:0003355	Aminoaciduria
6834	SURF1	HP:0002033	Poor suck
6834	SURF1	HP:0002015	Dysphagia
6834	SURF1	HP:0002086	Abnormality of the respiratory system
6834	SURF1	HP:0002098	Respiratory distress
6834	SURF1	HP:0002078	Truncal ataxia
6834	SURF1	HP:0002072	Chorea
6834	SURF1	HP:0002073	Progressive cerebellar ataxia
6834	SURF1	HP:0003388	Easy fatigability
6834	SURF1	HP:0002151	Increased serum lactate
6834	SURF1	HP:0002119	Ventriculomegaly
6834	SURF1	HP:0003447	Axonal loss
6834	SURF1	HP:0002104	Apnea
6834	SURF1	HP:0003593	Infantile onset
6834	SURF1	HP:0002240	Hepatomegaly
6834	SURF1	HP:0003546	Exercise intolerance
6834	SURF1	HP:0200147	Neuronal loss in basal ganglia
6834	SURF1	HP:0002283	Global brain atrophy
6834	SURF1	HP:0010663	Abnormality of thalamus morphology
6834	SURF1	HP:0007020	Progressive spastic paraplegia
6834	SURF1	HP:0002363	Abnormal brainstem morphology
6834	SURF1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
6834	SURF1	HP:0002376	Developmental regression
6834	SURF1	HP:0002339	Abnormal caudate nucleus morphology
6834	SURF1	HP:0002355	Difficulty walking
6834	SURF1	HP:0002352	Leukoencephalopathy
6834	SURF1	HP:0003677	Slowly progressive
6834	SURF1	HP:0007204	Diffuse white matter abnormalities
6834	SURF1	HP:0100660	Dyskinesia
6834	SURF1	HP:0009830	Peripheral neuropathy
6834	SURF1	HP:0025045	Abnormal brain lactate level by MRS
6834	SURF1	HP:0007159	Fluctuations in consciousness
6834	SURF1	HP:0007110	Central hypoventilation
6834	SURF1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
6834	SURF1	HP:0000639	Nystagmus
6834	SURF1	HP:0000648	Optic atrophy
6834	SURF1	HP:0001947	Renal tubular acidosis
6834	SURF1	HP:0001941	Acidosis
6834	SURF1	HP:0000602	Ophthalmoplegia
6834	SURF1	HP:0001903	Anemia
6834	SURF1	HP:0001994	Renal Fanconi syndrome
6834	SURF1	HP:0000666	Horizontal nystagmus
6834	SURF1	HP:0004305	Involuntary movements
6834	SURF1	HP:0003076	Glycosuria
6834	SURF1	HP:0006999	Basal ganglia gliosis
6834	SURF1	HP:0100022	Abnormality of movement
6834	SURF1	HP:0012707	Elevated brain lactate level by MRS
6834	SURF1	HP:0000712	Emotional lability
6834	SURF1	HP:0012758	Neurodevelopmental delay
6834	SURF1	HP:0003109	Hyperphosphaturia
6834	SURF1	HP:0003128	Lactic acidosis
6834	SURF1	HP:0003202	Skeletal muscle atrophy
6834	SURF1	HP:0000998	Hypertrichosis
6834	SURF1	HP:0012240	Increased intramyocellular lipid droplets
6834	SURF1	HP:0030085	Abnormal CSF lactate concentration
6834	SURF1	HP:0002878	Respiratory failure
6834	SURF1	HP:0000218	High palate
6834	SURF1	HP:0002875	Exertional dyspnea
6834	SURF1	HP:0001508	Failure to thrive
6834	SURF1	HP:0011096	Peripheral demyelination
6834	SURF1	HP:0006565	Increased hepatocellular lipid droplets
6834	SURF1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
6834	SURF1	HP:0000365	Hearing impairment
6834	SURF1	HP:0001642	Pulmonic stenosis
6834	SURF1	HP:0001644	Dilated cardiomyopathy
6834	SURF1	HP:0001653	Mitral regurgitation
6834	SURF1	HP:0001629	Ventricular septal defect
6834	SURF1	HP:0001626	Abnormality of the cardiovascular system
6834	SURF1	HP:0001639	Hypertrophic cardiomyopathy
6834	SURF1	HP:0001635	Congestive heart failure
6834	SURF1	HP:0007941	Limited extraocular movements
6834	SURF1	HP:0030319	Weakness of facial musculature
6834	SURF1	HP:0000407	Sensorineural hearing impairment
6834	SURF1	HP:0000486	Strabismus
6834	SURF1	HP:0031546	Cardiac conduction abnormality
6834	SURF1	HP:0000496	Abnormality of eye movement
6834	SURF1	HP:0000488	Retinopathy
6834	SURF1	HP:0000508	Ptosis
6834	SURF1	HP:0000505	Visual impairment
6834	SURF1	HP:0000597	Ophthalmoparesis
6834	SURF1	HP:0000580	Pigmentary retinopathy
6834	SURF1	HP:0000570	Abnormal saccadic eye movements
6840	SVIL	HP:0410173	Increased circulating troponin I concentration
6840	SVIL	HP:0001324	Muscle weakness
6840	SVIL	HP:0000007	Autosomal recessive inheritance
6840	SVIL	HP:0030973	Postexertional symptom exacerbation
6840	SVIL	HP:0003326	Myalgia
6840	SVIL	HP:0003394	Muscle spasm
6840	SVIL	HP:0003458	EMG: myopathic abnormalities
6840	SVIL	HP:0010548	Percussion myotonia
6840	SVIL	HP:0003593	Infantile onset
6840	SVIL	HP:0003577	Congenital onset
6840	SVIL	HP:0025075	Increased QRS voltage
6840	SVIL	HP:0003621	Juvenile onset
6840	SVIL	HP:0012785	Flexion contracture of finger
6840	SVIL	HP:0011463	Childhood onset
6840	SVIL	HP:0003236	Elevated circulating creatine kinase concentration
6840	SVIL	HP:0006466	Ankle flexion contracture
6840	SVIL	HP:0002808	Kyphosis
6840	SVIL	HP:0006380	Knee flexion contracture
6840	SVIL	HP:0005184	Prolonged QTc interval
6840	SVIL	HP:0002987	Elbow flexion contracture
6840	SVIL	HP:0000303	Mandibular prognathia
6840	SVIL	HP:0001712	Left ventricular hypertrophy
6840	SVIL	HP:0000475	Broad neck
6840	SVIL	HP:0001852	Sandal gap
6843	VAMP1	HP:0002497	Spastic ataxia
6843	VAMP1	HP:0002464	Spastic dysarthria
6843	VAMP1	HP:0002421	Poor head control
6843	VAMP1	HP:0003701	Proximal muscle weakness
6843	VAMP1	HP:0003700	Generalized amyotrophy
6843	VAMP1	HP:0001276	Hypertonia
6843	VAMP1	HP:0001270	Motor delay
6843	VAMP1	HP:0001288	Gait disturbance
6843	VAMP1	HP:0001283	Bulbar palsy
6843	VAMP1	HP:0001284	Areflexia
6843	VAMP1	HP:0001250	Seizure
6843	VAMP1	HP:0001252	Hypotonia
6843	VAMP1	HP:0001251	Ataxia
6843	VAMP1	HP:0001249	Intellectual disability
6843	VAMP1	HP:0001265	Hyporeflexia
6843	VAMP1	HP:0001260	Dysarthria
6843	VAMP1	HP:0001258	Spastic paraplegia
6843	VAMP1	HP:0002515	Waddling gait
6843	VAMP1	HP:0001374	Congenital hip dislocation
6843	VAMP1	HP:0001371	Flexion contracture
6843	VAMP1	HP:0025336	Delayed ability to sit
6843	VAMP1	HP:0001388	Joint laxity
6843	VAMP1	HP:0001382	Joint hypermobility
6843	VAMP1	HP:0001347	Hyperreflexia
6843	VAMP1	HP:0001332	Dystonia
6843	VAMP1	HP:0000007	Autosomal recessive inheritance
6843	VAMP1	HP:0001337	Tremor
6843	VAMP1	HP:0000006	Autosomal dominant inheritance
6843	VAMP1	HP:0002650	Scoliosis
6843	VAMP1	HP:0008969	Leg muscle stiffness
6843	VAMP1	HP:0025401	Staring gaze
6843	VAMP1	HP:0002751	Kyphoscoliosis
6843	VAMP1	HP:0002020	Gastroesophageal reflux
6843	VAMP1	HP:0002033	Poor suck
6843	VAMP1	HP:0004661	Frontalis muscle weakness
6843	VAMP1	HP:0003325	Limb-girdle muscle weakness
6843	VAMP1	HP:0002015	Dysphagia
6843	VAMP1	HP:0003306	Spinal rigidity
6843	VAMP1	HP:0003324	Generalized muscle weakness
6843	VAMP1	HP:0005943	Respiratory arrest
6843	VAMP1	HP:0002064	Spastic gait
6843	VAMP1	HP:0002061	Lower limb spasticity
6843	VAMP1	HP:0002070	Limb ataxia
6843	VAMP1	HP:0002058	Myopathic facies
6843	VAMP1	HP:0003388	Easy fatigability
6843	VAMP1	HP:0003473	Fatigable weakness
6843	VAMP1	HP:0003487	Babinski sign
6843	VAMP1	HP:0003458	EMG: myopathic abnormalities
6843	VAMP1	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
6843	VAMP1	HP:0002166	Impaired vibration sensation in the lower limbs
6843	VAMP1	HP:0010536	Central sleep apnea
6843	VAMP1	HP:0003593	Infantile onset
6843	VAMP1	HP:0004885	Episodic respiratory distress
6843	VAMP1	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
6843	VAMP1	HP:0002205	Recurrent respiratory infections
6843	VAMP1	HP:0011968	Feeding difficulties
6843	VAMP1	HP:0033383	Decreased compound muscle action potential amplitude
6843	VAMP1	HP:0002392	EEG with polyspike wave complexes
6843	VAMP1	HP:0003693	Distal amyotrophy
6843	VAMP1	HP:0002355	Difficulty walking
6843	VAMP1	HP:0002354	Memory impairment
6843	VAMP1	HP:0010831	Impaired proprioception
6843	VAMP1	HP:0008443	Neuropathic spinal arthropathy
6843	VAMP1	HP:0003623	Neonatal onset
6843	VAMP1	HP:0003621	Juvenile onset
6843	VAMP1	HP:0007178	Motor polyneuropathy
6843	VAMP1	HP:0006829	Severe muscular hypotonia
6843	VAMP1	HP:0000639	Nystagmus
6843	VAMP1	HP:0000651	Diplopia
6843	VAMP1	HP:0000605	Supranuclear gaze palsy
6843	VAMP1	HP:0000602	Ophthalmoplegia
6843	VAMP1	HP:0009053	Distal lower limb muscle weakness
6843	VAMP1	HP:0006961	Jerky head movements
6843	VAMP1	HP:0000768	Pectus carinatum
6843	VAMP1	HP:0011469	Nasal regurgitation
6843	VAMP1	HP:0011462	Young adult onset
6843	VAMP1	HP:0003198	Myopathy
6843	VAMP1	HP:0012801	Narrow jaw
6843	VAMP1	HP:0030842	Choking episodes
6843	VAMP1	HP:0010307	Stridor
6843	VAMP1	HP:0100285	EMG: impaired neuromuscular transmission
6843	VAMP1	HP:0000961	Cyanosis
6843	VAMP1	HP:0100295	Muscle fiber atrophy
6843	VAMP1	HP:0000276	Long face
6843	VAMP1	HP:0002808	Kyphosis
6843	VAMP1	HP:0002804	Arthrogryposis multiplex congenita
6843	VAMP1	HP:0002882	Sudden episodic apnea
6843	VAMP1	HP:0000218	High palate
6843	VAMP1	HP:0001561	Polyhydramnios
6843	VAMP1	HP:0001558	Decreased fetal movement
6843	VAMP1	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
6843	VAMP1	HP:0002870	Obstructive sleep apnea
6843	VAMP1	HP:0030051	Tip-toe gait
6843	VAMP1	HP:0030208	Anti-acetylcholine receptor antibody positivity
6843	VAMP1	HP:0001618	Dysphonia
6843	VAMP1	HP:0001612	Weak cry
6843	VAMP1	HP:0001611	Hypernasal speech
6843	VAMP1	HP:0002921	Abnormal cerebrospinal fluid morphology
6843	VAMP1	HP:0000369	Low-set ears
6843	VAMP1	HP:0000308	Microretrognathia
6843	VAMP1	HP:0007941	Limited extraocular movements
6843	VAMP1	HP:0000407	Sensorineural hearing impairment
6843	VAMP1	HP:0000486	Strabismus
6843	VAMP1	HP:0000496	Abnormality of eye movement
6843	VAMP1	HP:0000492	Abnormal eyelid morphology
6843	VAMP1	HP:0000467	Neck muscle weakness
6843	VAMP1	HP:0001761	Pes cavus
6843	VAMP1	HP:0000514	Slow saccadic eye movements
6843	VAMP1	HP:0000508	Ptosis
6843	VAMP1	HP:0000565	Esotropia
6844	VAMP2	HP:0001249	Intellectual disability
6844	VAMP2	HP:0001263	Global developmental delay
6844	VAMP2	HP:0007359	Focal-onset seizure
6844	VAMP2	HP:0002540	Inability to walk
6844	VAMP2	HP:0001332	Dystonia
6844	VAMP2	HP:0000006	Autosomal dominant inheritance
6844	VAMP2	HP:0012171	Stereotypical hand wringing
6844	VAMP2	HP:0008936	Axial hypotonia
6844	VAMP2	HP:0002079	Hypoplasia of the corpus callosum
6844	VAMP2	HP:0002072	Chorea
6844	VAMP2	HP:0003593	Infantile onset
6844	VAMP2	HP:0100704	Cerebral visual impairment
6844	VAMP2	HP:0100716	Self-injurious behavior
6844	VAMP2	HP:0002353	EEG abnormality
6844	VAMP2	HP:0000729	Autistic behavior
6844	VAMP2	HP:0032660	Convulsive status epilepticus
6845	VAMP7	HP:0008726	Hypoplasia of the vagina
6845	VAMP7	HP:0008730	Female external genitalia in individual with 46,XY karyotype
6845	VAMP7	HP:0008734	Decreased testicular size
6845	VAMP7	HP:0008736	Hypoplasia of penis
6845	VAMP7	HP:0008665	Clitoral hypertrophy
6845	VAMP7	HP:0000062	Ambiguous genitalia
6845	VAMP7	HP:0000058	Abnormal labia morphology
6845	VAMP7	HP:0000045	Abnormality of the scrotum
6845	VAMP7	HP:0000054	Micropenis
6845	VAMP7	HP:0000047	Hypospadias
6845	VAMP7	HP:0000030	Testicular gonadoblastoma
6845	VAMP7	HP:0000028	Cryptorchidism
6845	VAMP7	HP:0000027	Azoospermia
6845	VAMP7	HP:0002667	Nephroblastoma
6845	VAMP7	HP:0000142	Abnormal vagina morphology
6845	VAMP7	HP:0000150	Gonadoblastoma
6845	VAMP7	HP:0000149	Ovarian gonadoblastoma
6845	VAMP7	HP:0000133	Gonadal dysgenesis
6845	VAMP7	HP:0000100	Nephrotic syndrome
6845	VAMP7	HP:0002750	Delayed skeletal maturation
6845	VAMP7	HP:0008193	Primary gonadal insufficiency
6845	VAMP7	HP:0008187	Absence of secondary sex characteristics
6845	VAMP7	HP:0010464	Streak ovary
6845	VAMP7	HP:0008232	Elevated circulating follicle stimulating hormone level
6845	VAMP7	HP:0008214	Decreased serum estradiol
6845	VAMP7	HP:0002215	Sparse axillary hair
6845	VAMP7	HP:0002225	Sparse pubic hair
6845	VAMP7	HP:0100779	Urogenital sinus anomaly
6845	VAMP7	HP:0011969	Elevated circulating luteinizing hormone level
6845	VAMP7	HP:0030680	Abnormality of cardiovascular system morphology
6845	VAMP7	HP:0000771	Gynecomastia
6845	VAMP7	HP:0000786	Primary amenorrhea
6845	VAMP7	HP:0012870	Vanishing testis
6845	VAMP7	HP:0000868	Decreased fertility in females
6845	VAMP7	HP:0000837	Increased circulating gonadotropin level
6845	VAMP7	HP:0000846	Adrenal insufficiency
6845	VAMP7	HP:0000815	Hypergonadotropic hypogonadism
6845	VAMP7	HP:0000812	Abnormal internal genitalia
6845	VAMP7	HP:0000823	Delayed puberty
6845	VAMP7	HP:0003251	Male infertility
6845	VAMP7	HP:0000939	Osteoporosis
6845	VAMP7	HP:0040171	Decreased serum testosterone concentration
6845	VAMP7	HP:0012244	Abnormal sex determination
6850	SYK	HP:0002583	Colitis
6850	SYK	HP:0002588	Duodenal ulcer
6850	SYK	HP:0010976	B lymphocytopenia
6850	SYK	HP:0033605	Pustular rash
6850	SYK	HP:0033628	Bowel irritability
6850	SYK	HP:0001369	Arthritis
6850	SYK	HP:0001386	Joint swelling
6850	SYK	HP:0000006	Autosomal dominant inheritance
6850	SYK	HP:0012191	B-cell lymphoma
6850	SYK	HP:0000155	Oral ulcer
6850	SYK	HP:0012115	Hepatitis
6850	SYK	HP:0002754	Osteomyelitis
6850	SYK	HP:0002749	Osteomalacia
6850	SYK	HP:0002719	Recurrent infections
6850	SYK	HP:0002716	Lymphadenopathy
6850	SYK	HP:0002729	Follicular hyperplasia
6850	SYK	HP:0002722	Recurrent abscess formation
6850	SYK	HP:0002027	Abdominal pain
6850	SYK	HP:0002014	Diarrhea
6850	SYK	HP:0002013	Vomiting
6850	SYK	HP:0002090	Pneumonia
6850	SYK	HP:0002041	Intractable diarrhea
6850	SYK	HP:0002039	Anorexia
6850	SYK	HP:0003460	Decreased circulating total IgA
6850	SYK	HP:0002110	Bronchiectasis
6850	SYK	HP:0003593	Infantile onset
6850	SYK	HP:0200029	Vasculitis in the skin
6850	SYK	HP:0032132	Decreased circulating total IgG
6850	SYK	HP:0009797	Cholesteatoma
6850	SYK	HP:0001954	Recurrent fever
6850	SYK	HP:0001903	Anemia
6850	SYK	HP:0003073	Hypoalbuminemia
6850	SYK	HP:0011473	Villous atrophy
6850	SYK	HP:0004464	Postauricular pit
6850	SYK	HP:0003228	Hypernatremia
6850	SYK	HP:0040218	Reduced natural killer cell count
6850	SYK	HP:0100280	Crohn's disease
6850	SYK	HP:0000988	Skin rash
6850	SYK	HP:0031397	Decreased proportion of naive T cells
6850	SYK	HP:0001581	Recurrent skin infections
6850	SYK	HP:0002850	Decreased circulating total IgM
6850	SYK	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
6850	SYK	HP:0012387	Bronchitis
6850	SYK	HP:0005263	Gastritis
6850	SYK	HP:0005218	Anoperineal fistula
6850	SYK	HP:0000403	Recurrent otitis media
6850	SYK	HP:0001744	Splenomegaly
6850	SYK	HP:0005403	T lymphocytopenia
6850	SYK	HP:0001824	Weight loss
6850	SYK	HP:0011227	Elevated circulating C-reactive protein concentration
6853	SYN1	HP:0001256	Intellectual disability, mild
6853	SYN1	HP:0001250	Seizure
6853	SYN1	HP:0007359	Focal-onset seizure
6853	SYN1	HP:0001328	Specific learning disability
6853	SYN1	HP:0001423	X-linked dominant inheritance
6853	SYN1	HP:0001419	X-linked recessive inheritance
6853	SYN1	HP:0001417	X-linked inheritance
6853	SYN1	HP:0000718	Aggressive behavior
6853	SYN1	HP:0000729	Autistic behavior
6853	SYN1	HP:0000256	Macrocephaly
6854	SYN2	HP:0410291	Negativism
6854	SYN2	HP:0000006	Autosomal dominant inheritance
6854	SYN2	HP:0100753	Schizophrenia
6854	SYN2	HP:0007086	Social and occupational deterioration
6854	SYN2	HP:0002353	EEG abnormality
6854	SYN2	HP:0000738	Hallucinations
6854	SYN2	HP:0000746	Delusions
6855	SYP	HP:0001250	Seizure
6855	SYP	HP:0001249	Intellectual disability
6855	SYP	HP:0001419	X-linked recessive inheritance
6857	SYT1	HP:0002487	Hyperkinetic movements
6857	SYT1	HP:0002465	Poor speech
6857	SYT1	HP:0025152	Poor visual behavior for age
6857	SYT1	HP:0010850	EEG with spike-wave complexes
6857	SYT1	HP:0025247	Dermoid cyst
6857	SYT1	HP:0001270	Motor delay
6857	SYT1	HP:0001251	Ataxia
6857	SYT1	HP:0001266	Choreoathetosis
6857	SYT1	HP:0001263	Global developmental delay
6857	SYT1	HP:0008762	Repetitive compulsive behavior
6857	SYT1	HP:0002540	Inability to walk
6857	SYT1	HP:0001388	Joint laxity
6857	SYT1	HP:0001332	Dystonia
6857	SYT1	HP:0001344	Absent speech
6857	SYT1	HP:0000006	Autosomal dominant inheritance
6857	SYT1	HP:0002650	Scoliosis
6857	SYT1	HP:0001319	Neonatal hypotonia
6857	SYT1	HP:0012169	Self-biting
6857	SYT1	HP:0008947	Infantile muscular hypotonia
6857	SYT1	HP:0002020	Gastroesophageal reflux
6857	SYT1	HP:0004691	2-3 toe syndactyly
6857	SYT1	HP:0002013	Vomiting
6857	SYT1	HP:0002072	Chorea
6857	SYT1	HP:0008138	Equinus calcaneus
6857	SYT1	HP:0040296	Abnormal location of the eyebrow
6857	SYT1	HP:0010535	Sleep apnea
6857	SYT1	HP:0003593	Infantile onset
6857	SYT1	HP:0100716	Self-injurious behavior
6857	SYT1	HP:0011968	Feeding difficulties
6857	SYT1	HP:0002360	Sleep disturbance
6857	SYT1	HP:0002353	EEG abnormality
6857	SYT1	HP:0100660	Dyskinesia
6857	SYT1	HP:0000639	Nystagmus
6857	SYT1	HP:0011344	Severe global developmental delay
6857	SYT1	HP:0004305	Involuntary movements
6857	SYT1	HP:0031936	Delayed ability to walk
6857	SYT1	HP:0000733	Abnormal repetitive mannerisms
6857	SYT1	HP:0000742	Self-mutilation
6857	SYT1	HP:0000729	Autistic behavior
6857	SYT1	HP:0011445	Athetoid cerebral palsy
6857	SYT1	HP:0003196	Short nose
6857	SYT1	HP:0000817	Reduced eye contact
6857	SYT1	HP:0005876	Progressive flexion contractures
6857	SYT1	HP:0100248	Hemiballismus
6857	SYT1	HP:0008081	Pes valgus
6857	SYT1	HP:0000286	Epicanthus
6857	SYT1	HP:0000244	Brachyturricephaly
6857	SYT1	HP:0002883	Hyperventilation
6857	SYT1	HP:0000219	Thin upper lip vermilion
6857	SYT1	HP:0002871	Central apnea
6857	SYT1	HP:0007874	Almond-shaped palpebral fissure
6857	SYT1	HP:0002938	Lumbar hyperlordosis
6857	SYT1	HP:0001601	Laryngomalacia
6857	SYT1	HP:0000349	Widow's peak
6857	SYT1	HP:0000348	High forehead
6857	SYT1	HP:0000319	Smooth philtrum
6857	SYT1	HP:0001631	Atrial septal defect
6857	SYT1	HP:0011196	EEG with focal sharp waves
6857	SYT1	HP:0011194	EEG with series of focal spikes
6857	SYT1	HP:0005274	Prominent nasal tip
6857	SYT1	HP:0000486	Strabismus
6857	SYT1	HP:0012448	Delayed myelination
6857	SYT1	HP:0001776	Bilateral talipes equinovarus
6857	SYT1	HP:0001760	Abnormal foot morphology
6857	SYT1	HP:0000505	Visual impairment
6857	SYT1	HP:0011228	Horizontal eyebrow
6857	SYT1	HP:0000565	Esotropia
6857	SYT1	HP:0000540	Hypermetropia
6862	TBXT	HP:0002475	Myelomeningocele
6862	TBXT	HP:0012032	Lipoma
6862	TBXT	HP:0000020	Urinary incontinence
6862	TBXT	HP:0000007	Autosomal recessive inheritance
6862	TBXT	HP:0000006	Autosomal dominant inheritance
6862	TBXT	HP:0003468	Abnormal vertebral morphology
6862	TBXT	HP:0003577	Congenital onset
6862	TBXT	HP:0001012	Multiple lipomas
6862	TBXT	HP:0002323	Anencephaly
6862	TBXT	HP:0008482	Asymmetry of spinal facet joints
6862	TBXT	HP:0003298	Spina bifida occulta
6862	TBXT	HP:0010305	Absence of the sacrum
6862	TBXT	HP:0000960	Sacral dimple
6862	TBXT	HP:0000238	Hydrocephalus
6866	TAC3	HP:0003782	Eunuchoid habitus
6866	TAC3	HP:0001256	Intellectual disability, mild
6866	TAC3	HP:0008734	Decreased testicular size
6866	TAC3	HP:0008724	Hypoplasia of the ovary
6866	TAC3	HP:0000044	Hypogonadotropic hypogonadism
6866	TAC3	HP:0000054	Micropenis
6866	TAC3	HP:0000026	Male hypogonadism
6866	TAC3	HP:0000028	Cryptorchidism
6866	TAC3	HP:0000027	Azoospermia
6866	TAC3	HP:0000002	Abnormality of body height
6866	TAC3	HP:0000013	Hypoplasia of the uterus
6866	TAC3	HP:0000007	Autosomal recessive inheritance
6866	TAC3	HP:0000164	Abnormality of the dentition
6866	TAC3	HP:0000175	Cleft palate
6866	TAC3	HP:0000118	Phenotypic abnormality
6866	TAC3	HP:0000134	Female hypogonadism
6866	TAC3	HP:0002761	Generalized joint laxity
6866	TAC3	HP:0002750	Delayed skeletal maturation
6866	TAC3	HP:0008197	Absence of pubertal development
6866	TAC3	HP:0008187	Absence of secondary sex characteristics
6866	TAC3	HP:0002231	Sparse body hair
6866	TAC3	HP:0011961	Non-obstructive azoospermia
6866	TAC3	HP:0008527	Congenital sensorineural hearing impairment
6866	TAC3	HP:0000802	Impotence
6866	TAC3	HP:0000771	Gynecomastia
6866	TAC3	HP:0000739	Anxiety
6866	TAC3	HP:0000716	Depression
6866	TAC3	HP:0000786	Primary amenorrhea
6866	TAC3	HP:0003187	Breast hypoplasia
6866	TAC3	HP:0000869	Secondary amenorrhea
6866	TAC3	HP:0000823	Delayed puberty
6866	TAC3	HP:0000939	Osteoporosis
6866	TAC3	HP:0000938	Osteopenia
6866	TAC3	HP:0040171	Decreased serum testosterone concentration
6866	TAC3	HP:0030019	Increased female libido
6866	TAC3	HP:0012385	Camptodactyly
6866	TAC3	HP:0001608	Abnormality of the voice
6866	TAC3	HP:0000316	Hypertelorism
6866	TAC3	HP:0006610	Wide intermamillary distance
6866	TAC3	HP:0005280	Depressed nasal bridge
6866	TAC3	HP:0000458	Anosmia
6866	TAC3	HP:0030344	Decreased circulating luteinizing hormone level
6866	TAC3	HP:0030341	Decreased circulating follicle stimulating hormone concentration
6868	ADAM17	HP:0003765	Psoriasiform dermatitis
6868	ADAM17	HP:0000007	Autosomal recessive inheritance
6868	ADAM17	HP:0031123	Recurrent gastroenteritis
6868	ADAM17	HP:0410017	Otitis externa
6868	ADAM17	HP:0033194	Perioral erythema
6868	ADAM17	HP:0033195	Perianal erythema
6868	ADAM17	HP:0033117	Duodenitis
6868	ADAM17	HP:0008396	Chronic monilial nail infection
6868	ADAM17	HP:0001019	Erythroderma
6868	ADAM17	HP:0025085	Bloody diarrhea
6868	ADAM17	HP:0200039	Pustule
6868	ADAM17	HP:0010783	Erythema
6868	ADAM17	HP:0011354	Generalized abnormality of skin
6868	ADAM17	HP:0100038	Slow-growing scalp hair
6868	ADAM17	HP:0011473	Villous atrophy
6868	ADAM17	HP:0003212	Increased circulating IgE level
6868	ADAM17	HP:0040181	Chapped lip
6868	ADAM17	HP:0040189	Scaling skin
6868	ADAM17	HP:0001508	Failure to thrive
6868	ADAM17	HP:0012390	Anal fissure
6868	ADAM17	HP:0000498	Blepharitis
6868	ADAM17	HP:0001712	Left ventricular hypertrophy
6868	ADAM17	HP:0011131	Perianal dermatitis
6868	ADAM17	HP:0005406	Recurrent bacterial skin infections
6868	ADAM17	HP:0001805	Onychogryposis
6868	ADAM17	HP:0001818	Paronychia
6868	ADAM17	HP:0011228	Horizontal eyebrow
6870	TACR3	HP:0003782	Eunuchoid habitus
6870	TACR3	HP:0001288	Gait disturbance
6870	TACR3	HP:0001250	Seizure
6870	TACR3	HP:0001252	Hypotonia
6870	TACR3	HP:0001251	Ataxia
6870	TACR3	HP:0001260	Dysarthria
6870	TACR3	HP:0008734	Decreased testicular size
6870	TACR3	HP:0008736	Hypoplasia of penis
6870	TACR3	HP:0008724	Hypoplasia of the ovary
6870	TACR3	HP:0000044	Hypogonadotropic hypogonadism
6870	TACR3	HP:0000054	Micropenis
6870	TACR3	HP:0000026	Male hypogonadism
6870	TACR3	HP:0000028	Cryptorchidism
6870	TACR3	HP:0000027	Azoospermia
6870	TACR3	HP:0000002	Abnormality of body height
6870	TACR3	HP:0001324	Muscle weakness
6870	TACR3	HP:0000013	Hypoplasia of the uterus
6870	TACR3	HP:0000008	Abnormal morphology of female internal genitalia
6870	TACR3	HP:0000007	Autosomal recessive inheritance
6870	TACR3	HP:0001335	Bimanual synkinesia
6870	TACR3	HP:0001337	Tremor
6870	TACR3	HP:0002652	Skeletal dysplasia
6870	TACR3	HP:0000164	Abnormality of the dentition
6870	TACR3	HP:0000175	Cleft palate
6870	TACR3	HP:0000144	Decreased fertility
6870	TACR3	HP:0000118	Phenotypic abnormality
6870	TACR3	HP:0000134	Female hypogonadism
6870	TACR3	HP:0002761	Generalized joint laxity
6870	TACR3	HP:0002757	Recurrent fractures
6870	TACR3	HP:0000104	Renal agenesis
6870	TACR3	HP:0002750	Delayed skeletal maturation
6870	TACR3	HP:0008197	Absence of pubertal development
6870	TACR3	HP:0008187	Absence of secondary sex characteristics
6870	TACR3	HP:0010550	Paraplegia
6870	TACR3	HP:0002231	Sparse body hair
6870	TACR3	HP:0011961	Non-obstructive azoospermia
6870	TACR3	HP:0008527	Congenital sensorineural hearing impairment
6870	TACR3	HP:0009804	Tooth agenesis
6870	TACR3	HP:0100639	Erectile dysfunction
6870	TACR3	HP:0000639	Nystagmus
6870	TACR3	HP:0030680	Abnormality of cardiovascular system morphology
6870	TACR3	HP:0000802	Impotence
6870	TACR3	HP:0004349	Reduced bone mineral density
6870	TACR3	HP:0000771	Gynecomastia
6870	TACR3	HP:0000739	Anxiety
6870	TACR3	HP:0000716	Depression
6870	TACR3	HP:0000786	Primary amenorrhea
6870	TACR3	HP:0004409	Hyposmia
6870	TACR3	HP:0003187	Breast hypoplasia
6870	TACR3	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
6870	TACR3	HP:0000869	Secondary amenorrhea
6870	TACR3	HP:0000830	Anterior hypopituitarism
6870	TACR3	HP:0000823	Delayed puberty
6870	TACR3	HP:0000939	Osteoporosis
6870	TACR3	HP:0000938	Osteopenia
6870	TACR3	HP:0040171	Decreased serum testosterone concentration
6870	TACR3	HP:0008064	Ichthyosis
6870	TACR3	HP:0030016	Dyspareunia
6870	TACR3	HP:0030019	Increased female libido
6870	TACR3	HP:0001513	Obesity
6870	TACR3	HP:0012385	Camptodactyly
6870	TACR3	HP:0001608	Abnormality of the voice
6870	TACR3	HP:0000316	Hypertelorism
6870	TACR3	HP:0006610	Wide intermamillary distance
6870	TACR3	HP:0000407	Sensorineural hearing impairment
6870	TACR3	HP:0005280	Depressed nasal bridge
6870	TACR3	HP:0000458	Anosmia
6870	TACR3	HP:0030260	Microphallus
6870	TACR3	HP:0001763	Pes planus
6870	TACR3	HP:0001761	Pes cavus
6870	TACR3	HP:0000508	Ptosis
6870	TACR3	HP:0000505	Visual impairment
6870	TACR3	HP:0000551	Color vision defect
6872	TAF1	HP:0002451	Limb dystonia
6872	TAF1	HP:0009894	Thickened ears
6872	TAF1	HP:0001290	Generalized hypotonia
6872	TAF1	HP:0001272	Cerebellar atrophy
6872	TAF1	HP:0001288	Gait disturbance
6872	TAF1	HP:0001250	Seizure
6872	TAF1	HP:0001251	Ataxia
6872	TAF1	HP:0001249	Intellectual disability
6872	TAF1	HP:0001264	Spastic diplegia
6872	TAF1	HP:0001263	Global developmental delay
6872	TAF1	HP:0001257	Spasticity
6872	TAF1	HP:0007375	Abnormal septum pellucidum morphology
6872	TAF1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
6872	TAF1	HP:0012032	Lipoma
6872	TAF1	HP:0001385	Hip dysplasia
6872	TAF1	HP:0001382	Joint hypermobility
6872	TAF1	HP:0008897	Postnatal growth retardation
6872	TAF1	HP:0031162	Impaired oropharyngeal swallow response
6872	TAF1	HP:0001332	Dystonia
6872	TAF1	HP:0001337	Tremor
6872	TAF1	HP:0001336	Myoclonus
6872	TAF1	HP:0001304	Torsion dystonia
6872	TAF1	HP:0001320	Cerebellar vermis hypoplasia
6872	TAF1	HP:0002650	Scoliosis
6872	TAF1	HP:0001321	Cerebellar hypoplasia
6872	TAF1	HP:0001315	Reduced tendon reflexes
6872	TAF1	HP:0002705	High, narrow palate
6872	TAF1	HP:0001419	X-linked recessive inheritance
6872	TAF1	HP:0002020	Gastroesophageal reflux
6872	TAF1	HP:0002019	Constipation
6872	TAF1	HP:0004696	Talipes cavus equinovarus
6872	TAF1	HP:0002067	Bradykinesia
6872	TAF1	HP:0002079	Hypoplasia of the corpus callosum
6872	TAF1	HP:0002072	Chorea
6872	TAF1	HP:0002141	Gait imbalance
6872	TAF1	HP:0002119	Ventriculomegaly
6872	TAF1	HP:0011927	Short digit
6872	TAF1	HP:0002194	Delayed gross motor development
6872	TAF1	HP:0002172	Postural instability
6872	TAF1	HP:0011822	Broad chin
6872	TAF1	HP:0003577	Congenital onset
6872	TAF1	HP:0003581	Adult onset
6872	TAF1	HP:0100797	Toenail dysplasia
6872	TAF1	HP:0200136	Oral-pharyngeal dysphagia
6872	TAF1	HP:0007018	Attention deficit hyperactivity disorder
6872	TAF1	HP:0011951	Aspiration pneumonia
6872	TAF1	HP:0001057	Aplasia cutis congenita
6872	TAF1	HP:0002395	Lower limb hyperreflexia
6872	TAF1	HP:0002362	Shuffling gait
6872	TAF1	HP:0002359	Frequent falls
6872	TAF1	HP:0002378	Hand tremor
6872	TAF1	HP:0002342	Intellectual disability, moderate
6872	TAF1	HP:0001007	Hirsutism
6872	TAF1	HP:0002355	Difficulty walking
6872	TAF1	HP:0002322	Resting tremor
6872	TAF1	HP:0010808	Protruding tongue
6872	TAF1	HP:0007158	Progressive extrapyramidal muscular rigidity
6872	TAF1	HP:0008472	Prominent protruding coccyx
6872	TAF1	HP:0008468	Abnormal sacral segmentation
6872	TAF1	HP:0006863	Severe expressive language delay
6872	TAF1	HP:0000639	Nystagmus
6872	TAF1	HP:0000643	Blepharospasm
6872	TAF1	HP:0001999	Abnormal facial shape
6872	TAF1	HP:0000664	Synophrys
6872	TAF1	HP:0006979	Sleep-wake cycle disturbance
6872	TAF1	HP:0004373	Focal dystonia
6872	TAF1	HP:0011410	Caesarian section
6872	TAF1	HP:0000767	Pectus excavatum
6872	TAF1	HP:0000739	Anxiety
6872	TAF1	HP:0000750	Delayed speech and language development
6872	TAF1	HP:0000729	Autistic behavior
6872	TAF1	HP:0040016	Prominent coccyx
6872	TAF1	HP:0000964	Eczema
6872	TAF1	HP:0000960	Sacral dimple
6872	TAF1	HP:0000938	Osteopenia
6872	TAF1	HP:0008070	Sparse hair
6872	TAF1	HP:0000286	Epicanthus
6872	TAF1	HP:0000276	Long face
6872	TAF1	HP:0002808	Kyphosis
6872	TAF1	HP:0000252	Microcephaly
6872	TAF1	HP:0000219	Thin upper lip vermilion
6872	TAF1	HP:0000218	High palate
6872	TAF1	HP:0001511	Intrauterine growth retardation
6872	TAF1	HP:0001513	Obesity
6872	TAF1	HP:0006511	Laryngeal stridor
6872	TAF1	HP:0000391	Thickened helices
6872	TAF1	HP:0000389	Chronic otitis media
6872	TAF1	HP:0000365	Hearing impairment
6872	TAF1	HP:0000369	Low-set ears
6872	TAF1	HP:0000343	Long philtrum
6872	TAF1	HP:0000336	Prominent supraorbital ridges
6872	TAF1	HP:0000347	Micrognathia
6872	TAF1	HP:0000316	Hypertelorism
6872	TAF1	HP:0000308	Microretrognathia
6872	TAF1	HP:0000307	Pointed chin
6872	TAF1	HP:0000400	Macrotia
6872	TAF1	HP:0005280	Depressed nasal bridge
6872	TAF1	HP:0000486	Strabismus
6872	TAF1	HP:0000494	Downslanted palpebral fissures
6872	TAF1	HP:0000496	Abnormality of eye movement
6872	TAF1	HP:0000490	Deeply set eye
6872	TAF1	HP:0000463	Anteverted nares
6872	TAF1	HP:0000455	Broad nasal tip
6872	TAF1	HP:0000470	Short neck
6872	TAF1	HP:0000437	Depressed nasal tip
6872	TAF1	HP:0000414	Bulbous nose
6872	TAF1	HP:0000411	Protruding ear
6872	TAF1	HP:0005469	Flat occiput
6872	TAF1	HP:0000527	Long eyelashes
6872	TAF1	HP:0000520	Proptosis
6872	TAF1	HP:0000579	Nasolacrimal duct obstruction
6872	TAF1	HP:0011220	Prominent forehead
6872	TAF1	HP:0000574	Thick eyebrow
6872	TAF1	HP:0000545	Myopia
6873	TAF2	HP:0002465	Poor speech
6873	TAF2	HP:0007256	Abnormal pyramidal sign
6873	TAF2	HP:0001249	Intellectual disability
6873	TAF2	HP:0001263	Global developmental delay
6873	TAF2	HP:0001257	Spasticity
6873	TAF2	HP:0001347	Hyperreflexia
6873	TAF2	HP:0001344	Absent speech
6873	TAF2	HP:0000007	Autosomal recessive inheritance
6873	TAF2	HP:0002079	Hypoplasia of the corpus callosum
6873	TAF2	HP:0002059	Cerebral atrophy
6873	TAF2	HP:0003487	Babinski sign
6873	TAF2	HP:0002188	Delayed CNS myelination
6873	TAF2	HP:0003593	Infantile onset
6873	TAF2	HP:0000639	Nystagmus
6873	TAF2	HP:0000666	Horizontal nystagmus
6873	TAF2	HP:0000750	Delayed speech and language development
6873	TAF2	HP:0011461	Fetal onset
6873	TAF2	HP:0007703	Abnormality of retinal pigmentation
6873	TAF2	HP:0000238	Hydrocephalus
6873	TAF2	HP:0000252	Microcephaly
6873	TAF2	HP:0001650	Aortic valve stenosis
6873	TAF2	HP:0001647	Bicuspid aortic valve
6873	TAF2	HP:0012448	Delayed myelination
6873	TAF2	HP:0001760	Abnormal foot morphology
6873	TAF2	HP:0005484	Secondary microcephaly
6873	TAF2	HP:0000577	Exotropia
6875	TAF4B	HP:0008734	Decreased testicular size
6875	TAF4B	HP:0008669	Abnormal spermatogenesis
6875	TAF4B	HP:0000027	Azoospermia
6875	TAF4B	HP:0000007	Autosomal recessive inheritance
6875	TAF4B	HP:0000118	Phenotypic abnormality
6875	TAF4B	HP:0011961	Non-obstructive azoospermia
6875	TAF4B	HP:0011962	Obstructive azoospermia
6875	TAF4B	HP:0011462	Young adult onset
6875	TAF4B	HP:0000837	Increased circulating gonadotropin level
6875	TAF4B	HP:0040086	Abnormal prolactin level
6875	TAF4B	HP:0030087	Abnormal circulating testosterone concentration
6875	TAF4B	HP:0030345	Abnormal circulating luteinizing hormone concentration
6878	TAF6	HP:0002465	Poor speech
6878	TAF6	HP:0001249	Intellectual disability
6878	TAF6	HP:0001263	Global developmental delay
6878	TAF6	HP:0002553	Highly arched eyebrow
6878	TAF6	HP:0000028	Cryptorchidism
6878	TAF6	HP:0000007	Autosomal recessive inheritance
6878	TAF6	HP:0001319	Neonatal hypotonia
6878	TAF6	HP:0000160	Narrow mouth
6878	TAF6	HP:0001007	Hirsutism
6878	TAF6	HP:0009765	Low hanging columella
6878	TAF6	HP:0010055	Broad hallux
6878	TAF6	HP:0000678	Dental crowding
6878	TAF6	HP:0000664	Synophrys
6878	TAF6	HP:0004322	Short stature
6878	TAF6	HP:0000752	Hyperactivity
6878	TAF6	HP:0000954	Single transverse palmar crease
6878	TAF6	HP:0000294	Low anterior hairline
6878	TAF6	HP:0000252	Microcephaly
6878	TAF6	HP:0000219	Thin upper lip vermilion
6878	TAF6	HP:0000218	High palate
6878	TAF6	HP:0000343	Long philtrum
6878	TAF6	HP:0000448	Prominent nose
6878	TAF6	HP:0000430	Underdeveloped nasal alae
6878	TAF6	HP:0000426	Prominent nasal bridge
6878	TAF6	HP:0000527	Long eyelashes
6878	TAF6	HP:0000574	Thick eyebrow
6884	TAF13	HP:0010864	Intellectual disability, severe
6884	TAF13	HP:0001274	Agenesis of corpus callosum
6884	TAF13	HP:0001256	Intellectual disability, mild
6884	TAF13	HP:0001263	Global developmental delay
6884	TAF13	HP:0007333	Hypoplasia of the frontal lobes
6884	TAF13	HP:0000076	Vesicoureteral reflux
6884	TAF13	HP:0001347	Hyperreflexia
6884	TAF13	HP:0000007	Autosomal recessive inheritance
6884	TAF13	HP:0001302	Pachygyria
6884	TAF13	HP:0000122	Unilateral renal agenesis
6884	TAF13	HP:0002750	Delayed skeletal maturation
6884	TAF13	HP:0002119	Ventriculomegaly
6884	TAF13	HP:0002188	Delayed CNS myelination
6884	TAF13	HP:0003593	Infantile onset
6884	TAF13	HP:0002282	Gray matter heterotopia
6884	TAF13	HP:0004322	Short stature
6884	TAF13	HP:0003103	Abnormal cortical bone morphology
6884	TAF13	HP:0000823	Delayed puberty
6884	TAF13	HP:0000252	Microcephaly
6884	TAF13	HP:0000219	Thin upper lip vermilion
6884	TAF13	HP:0001518	Small for gestational age
6884	TAF13	HP:0001510	Growth delay
6884	TAF13	HP:0000340	Sloping forehead
6884	TAF13	HP:0000582	Upslanted palpebral fissure
6885	MAP3K7	HP:0001156	Brachydactyly
6885	MAP3K7	HP:0009882	Short distal phalanx of finger
6885	MAP3K7	HP:0100807	Long fingers
6885	MAP3K7	HP:0001256	Intellectual disability, mild
6885	MAP3K7	HP:0001252	Hypotonia
6885	MAP3K7	HP:0001249	Intellectual disability
6885	MAP3K7	HP:0002578	Gastroparesis
6885	MAP3K7	HP:0001239	Wrist flexion contracture
6885	MAP3K7	HP:0008734	Decreased testicular size
6885	MAP3K7	HP:0006070	Metacarpophalangeal joint contracture
6885	MAP3K7	HP:0008661	Urethral stenosis
6885	MAP3K7	HP:0006000	Ureteral obstruction
6885	MAP3K7	HP:0006006	Hypotrophy of the small hand muscles
6885	MAP3K7	HP:0001220	Interphalangeal joint contracture of finger
6885	MAP3K7	HP:0000085	Horseshoe kidney
6885	MAP3K7	HP:0000076	Vesicoureteral reflux
6885	MAP3K7	HP:0001374	Congenital hip dislocation
6885	MAP3K7	HP:0001388	Joint laxity
6885	MAP3K7	HP:0001382	Joint hypermobility
6885	MAP3K7	HP:0001363	Craniosynostosis
6885	MAP3K7	HP:0002694	Sclerosis of skull base
6885	MAP3K7	HP:0000028	Cryptorchidism
6885	MAP3K7	HP:0008872	Feeding difficulties in infancy
6885	MAP3K7	HP:0000011	Neurogenic bladder
6885	MAP3K7	HP:0000006	Autosomal dominant inheritance
6885	MAP3K7	HP:0002652	Skeletal dysplasia
6885	MAP3K7	HP:0002650	Scoliosis
6885	MAP3K7	HP:0000193	Bifid uvula
6885	MAP3K7	HP:0000175	Cleft palate
6885	MAP3K7	HP:0000154	Wide mouth
6885	MAP3K7	HP:0006352	Failure of eruption of permanent teeth
6885	MAP3K7	HP:0008952	Shoulder muscle hypoplasia
6885	MAP3K7	HP:0002705	High, narrow palate
6885	MAP3K7	HP:0006248	Limited wrist movement
6885	MAP3K7	HP:0002777	Tracheal stenosis
6885	MAP3K7	HP:0000126	Hydronephrosis
6885	MAP3K7	HP:0002750	Delayed skeletal maturation
6885	MAP3K7	HP:0002021	Pyloric stenosis
6885	MAP3K7	HP:0002020	Gastroesophageal reflux
6885	MAP3K7	HP:0002002	Deep philtrum
6885	MAP3K7	HP:0003312	Abnormal form of the vertebral bodies
6885	MAP3K7	HP:0009487	Ulnar deviation of the hand
6885	MAP3K7	HP:0009473	Joint contracture of the hand
6885	MAP3K7	HP:0100490	Camptodactyly of finger
6885	MAP3K7	HP:0010562	Keloids
6885	MAP3K7	HP:0010505	Limitation of movement at ankles
6885	MAP3K7	HP:0010501	Limitation of knee mobility
6885	MAP3K7	HP:0010579	Cone-shaped epiphysis
6885	MAP3K7	HP:0010584	Pseudoepiphyses
6885	MAP3K7	HP:0003577	Congenital onset
6885	MAP3K7	HP:0009702	Carpal synostosis
6885	MAP3K7	HP:0008368	Tarsal synostosis
6885	MAP3K7	HP:0011968	Feeding difficulties
6885	MAP3K7	HP:0009650	Short distal phalanx of the thumb
6885	MAP3K7	HP:0003510	Severe short stature
6885	MAP3K7	HP:0001007	Hirsutism
6885	MAP3K7	HP:0008527	Congenital sensorineural hearing impairment
6885	MAP3K7	HP:0009803	Short phalanx of finger
6885	MAP3K7	HP:0008441	Herniation of intervertebral nuclei
6885	MAP3K7	HP:0010743	Short metatarsal
6885	MAP3K7	HP:0002308	Chiari malformation
6885	MAP3K7	HP:0004279	Short palm
6885	MAP3K7	HP:0000646	Amblyopia
6885	MAP3K7	HP:0000629	Periorbital fullness
6885	MAP3K7	HP:0010049	Short metacarpal
6885	MAP3K7	HP:0011387	Enlarged vestibular aqueduct
6885	MAP3K7	HP:0000677	Oligodontia
6885	MAP3K7	HP:0000692	Tooth malposition
6885	MAP3K7	HP:0009004	Hypoplasia of the musculature
6885	MAP3K7	HP:0011304	Broad thumb
6885	MAP3K7	HP:0001999	Abnormal facial shape
6885	MAP3K7	HP:0004322	Short stature
6885	MAP3K7	HP:0003083	Dislocated radial head
6885	MAP3K7	HP:0003015	Flared metaphysis
6885	MAP3K7	HP:0003016	Metaphyseal widening
6885	MAP3K7	HP:0000767	Pectus excavatum
6885	MAP3K7	HP:0011461	Fetal onset
6885	MAP3K7	HP:0000776	Congenital diaphragmatic hernia
6885	MAP3K7	HP:0030732	Dysplastic tricuspid valve
6885	MAP3K7	HP:0003199	Decreased muscle mass
6885	MAP3K7	HP:0000912	Sprengel anomaly
6885	MAP3K7	HP:0000902	Rib fusion
6885	MAP3K7	HP:0000823	Delayed puberty
6885	MAP3K7	HP:0040019	Finger clinodactyly
6885	MAP3K7	HP:0034391	Elbow contracture
6885	MAP3K7	HP:0003298	Spina bifida occulta
6885	MAP3K7	HP:0003273	Hip contracture
6885	MAP3K7	HP:0010307	Stridor
6885	MAP3K7	HP:0000977	Soft skin
6885	MAP3K7	HP:0011623	Muscular ventricular septal defect
6885	MAP3K7	HP:0100279	Ulcerative colitis
6885	MAP3K7	HP:0000954	Single transverse palmar crease
6885	MAP3K7	HP:0000941	Short diaphyses
6885	MAP3K7	HP:0008081	Pes valgus
6885	MAP3K7	HP:0000286	Epicanthus
6885	MAP3K7	HP:0000280	Coarse facial features
6885	MAP3K7	HP:0000293	Full cheeks
6885	MAP3K7	HP:0000294	Low anterior hairline
6885	MAP3K7	HP:0006383	Progressive bowing of long bones
6885	MAP3K7	HP:0005048	Synostosis of carpal bones
6885	MAP3K7	HP:0000218	High palate
6885	MAP3K7	HP:0001558	Decreased fetal movement
6885	MAP3K7	HP:0000201	Pierre-Robin sequence
6885	MAP3K7	HP:0001508	Failure to thrive
6885	MAP3K7	HP:0001510	Growth delay
6885	MAP3K7	HP:0012385	Camptodactyly
6885	MAP3K7	HP:0000377	Abnormal pinna morphology
6885	MAP3K7	HP:0001607	Subglottic stenosis
6885	MAP3K7	HP:0002949	Fused cervical vertebrae
6885	MAP3K7	HP:0000365	Hearing impairment
6885	MAP3K7	HP:0000358	Posteriorly rotated ears
6885	MAP3K7	HP:0000369	Low-set ears
6885	MAP3K7	HP:0000343	Long philtrum
6885	MAP3K7	HP:0000336	Prominent supraorbital ridges
6885	MAP3K7	HP:0002996	Limited elbow movement
6885	MAP3K7	HP:0000347	Micrognathia
6885	MAP3K7	HP:0012304	Hypoplastic aortic arch
6885	MAP3K7	HP:0001647	Bicuspid aortic valve
6885	MAP3K7	HP:0000316	Hypertelorism
6885	MAP3K7	HP:0001643	Patent ductus arteriosus
6885	MAP3K7	HP:0001642	Pulmonic stenosis
6885	MAP3K7	HP:0000331	Short chin
6885	MAP3K7	HP:0002987	Elbow flexion contracture
6885	MAP3K7	HP:0000322	Short philtrum
6885	MAP3K7	HP:0001653	Mitral regurgitation
6885	MAP3K7	HP:0001655	Patent foramen ovale
6885	MAP3K7	HP:0001629	Ventricular septal defect
6885	MAP3K7	HP:0001627	Abnormal heart morphology
6885	MAP3K7	HP:0000307	Pointed chin
6885	MAP3K7	HP:0001631	Atrial septal defect
6885	MAP3K7	HP:0001634	Mitral valve prolapse
6885	MAP3K7	HP:0000407	Sensorineural hearing impairment
6885	MAP3K7	HP:0000403	Recurrent otitis media
6885	MAP3K7	HP:0000405	Conductive hearing impairment
6885	MAP3K7	HP:0005278	Hypoplastic nasal tip
6885	MAP3K7	HP:0005280	Depressed nasal bridge
6885	MAP3K7	HP:0000483	Astigmatism
6885	MAP3K7	HP:0000486	Strabismus
6885	MAP3K7	HP:0000481	Abnormal cornea morphology
6885	MAP3K7	HP:0000494	Downslanted palpebral fissures
6885	MAP3K7	HP:0000463	Anteverted nares
6885	MAP3K7	HP:0000455	Broad nasal tip
6885	MAP3K7	HP:0000465	Webbed neck
6885	MAP3K7	HP:0001773	Short foot
6885	MAP3K7	HP:0000414	Bulbous nose
6885	MAP3K7	HP:0000410	Mixed hearing impairment
6885	MAP3K7	HP:0001762	Talipes equinovarus
6885	MAP3K7	HP:0000431	Wide nasal bridge
6885	MAP3K7	HP:0001761	Pes cavus
6885	MAP3K7	HP:0005473	Fusion of middle ear ossicles
6885	MAP3K7	HP:0000506	Telecanthus
6885	MAP3K7	HP:0000508	Ptosis
6885	MAP3K7	HP:0000582	Upslanted palpebral fissure
6885	MAP3K7	HP:0000592	Blue sclerae
6885	MAP3K7	HP:0000574	Thick eyebrow
6886	TAL1	HP:0010982	Polygenic inheritance
6886	TAL1	HP:0001428	Somatic mutation
6886	TAL1	HP:0006721	Acute lymphoblastic leukemia
6887	TAL2	HP:0010982	Polygenic inheritance
6887	TAL2	HP:0001428	Somatic mutation
6887	TAL2	HP:0006721	Acute lymphoblastic leukemia
6888	TALDO1	HP:0010903	Abnormal circulating glutamine concentration
6888	TALDO1	HP:0001263	Global developmental delay
6888	TALDO1	HP:0008665	Clitoral hypertrophy
6888	TALDO1	HP:0001395	Hepatic fibrosis
6888	TALDO1	HP:0001394	Cirrhosis
6888	TALDO1	HP:0000077	Abnormality of the kidney
6888	TALDO1	HP:0000056	Abnormality of the clitoris
6888	TALDO1	HP:0000007	Autosomal recessive inheritance
6888	TALDO1	HP:0000154	Wide mouth
6888	TALDO1	HP:0002795	Abnormal respiratory system physiology
6888	TALDO1	HP:0001433	Hepatosplenomegaly
6888	TALDO1	HP:0001410	Decreased liver function
6888	TALDO1	HP:0001413	Micronodular cirrhosis
6888	TALDO1	HP:0002033	Poor suck
6888	TALDO1	HP:0002002	Deep philtrum
6888	TALDO1	HP:0002099	Asthma
6888	TALDO1	HP:0002240	Hepatomegaly
6888	TALDO1	HP:0200128	Biventricular hypertrophy
6888	TALDO1	HP:0001009	Telangiectasia
6888	TALDO1	HP:0100678	Premature skin wrinkling
6888	TALDO1	HP:0001903	Anemia
6888	TALDO1	HP:0001999	Abnormal facial shape
6888	TALDO1	HP:0000664	Synophrys
6888	TALDO1	HP:0000969	Edema
6888	TALDO1	HP:0000260	Wide anterior fontanel
6888	TALDO1	HP:0012202	Increased serum bile acid concentration
6888	TALDO1	HP:0001562	Oligohydramnios
6888	TALDO1	HP:0000233	Thin vermilion border
6888	TALDO1	HP:0001508	Failure to thrive
6888	TALDO1	HP:0001518	Small for gestational age
6888	TALDO1	HP:0001511	Intrauterine growth retardation
6888	TALDO1	HP:0000369	Low-set ears
6888	TALDO1	HP:0001680	Coarctation of aorta
6888	TALDO1	HP:0001643	Patent ductus arteriosus
6888	TALDO1	HP:0000322	Short philtrum
6888	TALDO1	HP:0000325	Triangular face
6888	TALDO1	HP:0001655	Patent foramen ovale
6888	TALDO1	HP:0001629	Ventricular septal defect
6888	TALDO1	HP:0001631	Atrial septal defect
6888	TALDO1	HP:0005280	Depressed nasal bridge
6888	TALDO1	HP:0001789	Hydrops fetalis
6888	TALDO1	HP:0000470	Short neck
6888	TALDO1	HP:0001744	Splenomegaly
6888	TALDO1	HP:0001873	Thrombocytopenia
6888	TALDO1	HP:0001876	Pancytopenia
6890	TAP1	HP:0000007	Autosomal recessive inheritance
6890	TAP1	HP:0002097	Emphysema
6890	TAP1	HP:0100582	Nasal polyposis
6890	TAP1	HP:0002110	Bronchiectasis
6890	TAP1	HP:0011950	Bronchiolitis
6890	TAP1	HP:0200042	Skin ulcer
6890	TAP1	HP:0001083	Ectopia lentis
6890	TAP1	HP:0002837	Recurrent bronchitis
6890	TAP1	HP:0000389	Chronic otitis media
6890	TAP1	HP:0011109	Chronic sinusitis
6891	TAP2	HP:0000007	Autosomal recessive inheritance
6891	TAP2	HP:0002097	Emphysema
6891	TAP2	HP:0100582	Nasal polyposis
6891	TAP2	HP:0002110	Bronchiectasis
6891	TAP2	HP:0011950	Bronchiolitis
6891	TAP2	HP:0200042	Skin ulcer
6891	TAP2	HP:0001083	Ectopia lentis
6891	TAP2	HP:0002837	Recurrent bronchitis
6891	TAP2	HP:0000389	Chronic otitis media
6891	TAP2	HP:0011109	Chronic sinusitis
6892	TAPBP	HP:0000007	Autosomal recessive inheritance
6892	TAPBP	HP:0002097	Emphysema
6892	TAPBP	HP:0100582	Nasal polyposis
6892	TAPBP	HP:0002110	Bronchiectasis
6892	TAPBP	HP:0011950	Bronchiolitis
6892	TAPBP	HP:0200042	Skin ulcer
6892	TAPBP	HP:0001083	Ectopia lentis
6892	TAPBP	HP:0002837	Recurrent bronchitis
6892	TAPBP	HP:0000389	Chronic otitis media
6892	TAPBP	HP:0011109	Chronic sinusitis
6897	TARS1	HP:0008619	Bilateral sensorineural hearing impairment
6897	TARS1	HP:0001197	Abnormality of prenatal development or birth
6897	TARS1	HP:0410219	Hypoplasia of mandible relative to maxilla
6897	TARS1	HP:0007266	Cerebral dysmyelination
6897	TARS1	HP:0007256	Abnormal pyramidal sign
6897	TARS1	HP:0001290	Generalized hypotonia
6897	TARS1	HP:0001276	Hypertonia
6897	TARS1	HP:0001265	Hyporeflexia
6897	TARS1	HP:0001260	Dysarthria
6897	TARS1	HP:0001263	Global developmental delay
6897	TARS1	HP:0001257	Spasticity
6897	TARS1	HP:0002562	Low-set nipples
6897	TARS1	HP:0007381	Congenital exfoliative erythroderma
6897	TARS1	HP:0001217	Clubbing
6897	TARS1	HP:0001373	Joint dislocation
6897	TARS1	HP:0001363	Craniosynostosis
6897	TARS1	HP:0000028	Cryptorchidism
6897	TARS1	HP:0007502	Follicular hyperkeratosis
6897	TARS1	HP:0007495	Prematurely aged appearance
6897	TARS1	HP:0007485	Absence of subcutaneous fat
6897	TARS1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
6897	TARS1	HP:0001338	Partial agenesis of the corpus callosum
6897	TARS1	HP:0000007	Autosomal recessive inheritance
6897	TARS1	HP:0025428	Bronchospasm
6897	TARS1	HP:0007633	Bilateral microphthalmos
6897	TARS1	HP:0002705	High, narrow palate
6897	TARS1	HP:0006297	Enamel hypoplasia
6897	TARS1	HP:0007587	Numerous pigmented freckles
6897	TARS1	HP:0000133	Gonadal dysgenesis
6897	TARS1	HP:0002750	Delayed skeletal maturation
6897	TARS1	HP:0002719	Recurrent infections
6897	TARS1	HP:0002080	Intention tremor
6897	TARS1	HP:0002066	Gait ataxia
6897	TARS1	HP:0002120	Cerebral cortical atrophy
6897	TARS1	HP:0002119	Ventriculomegaly
6897	TARS1	HP:0002197	Generalized-onset seizure
6897	TARS1	HP:0010551	Paraplegia/paraparesis
6897	TARS1	HP:0002209	Sparse scalp hair
6897	TARS1	HP:0002299	Brittle hair
6897	TARS1	HP:0002293	Alopecia of scalp
6897	TARS1	HP:0007034	Generalized hyperreflexia
6897	TARS1	HP:0008391	Dystrophic fingernails
6897	TARS1	HP:0008386	Aplasia/Hypoplasia of the nails
6897	TARS1	HP:0009830	Peripheral neuropathy
6897	TARS1	HP:0001097	Keratoconjunctivitis sicca
6897	TARS1	HP:0000639	Nystagmus
6897	TARS1	HP:0000613	Photophobia
6897	TARS1	HP:0000608	Macular degeneration
6897	TARS1	HP:0000601	Hypotelorism
6897	TARS1	HP:0001903	Anemia
6897	TARS1	HP:0000656	Ectropion
6897	TARS1	HP:0000670	Carious teeth
6897	TARS1	HP:0006970	Periventricular leukomalacia
6897	TARS1	HP:0003079	Defective DNA repair after ultraviolet radiation damage
6897	TARS1	HP:0012760	Reduced social reciprocity
6897	TARS1	HP:0003139	Panhypogammaglobulinemia
6897	TARS1	HP:0045055	Tiger tail banding
6897	TARS1	HP:0100275	Diffuse cerebellar atrophy
6897	TARS1	HP:0000992	Cutaneous photosensitivity
6897	TARS1	HP:0000958	Dry skin
6897	TARS1	HP:0000964	Eczema
6897	TARS1	HP:0000938	Osteopenia
6897	TARS1	HP:0008064	Ichthyosis
6897	TARS1	HP:0000286	Epicanthus
6897	TARS1	HP:0000280	Coarse facial features
6897	TARS1	HP:0000278	Retrognathia
6897	TARS1	HP:0025548	Increased mean corpuscular hemoglobin concentration
6897	TARS1	HP:0001598	Concave nail
6897	TARS1	HP:0002828	Multiple joint contractures
6897	TARS1	HP:0000252	Microcephaly
6897	TARS1	HP:0002860	Squamous cell carcinoma
6897	TARS1	HP:0001537	Umbilical hernia
6897	TARS1	HP:0001511	Intrauterine growth retardation
6897	TARS1	HP:0006538	Recurrent bronchopulmonary infections
6897	TARS1	HP:0001618	Dysphonia
6897	TARS1	HP:0002942	Thoracic kyphosis
6897	TARS1	HP:0011001	Increased bone mineral density
6897	TARS1	HP:0000320	Bird-like facies
6897	TARS1	HP:0000316	Hypertelorism
6897	TARS1	HP:0001629	Ventricular septal defect
6897	TARS1	HP:0001638	Cardiomyopathy
6897	TARS1	HP:0000483	Astigmatism
6897	TARS1	HP:0000486	Strabismus
6897	TARS1	HP:0000482	Microcornea
6897	TARS1	HP:0000411	Protruding ear
6897	TARS1	HP:0000519	Developmental cataract
6897	TARS1	HP:0000509	Conjunctivitis
6897	TARS1	HP:0001809	Split nail
6897	TARS1	HP:0001808	Fragile nails
6897	TARS1	HP:0001807	Ridged nail
6897	TARS1	HP:0000565	Esotropia
6897	TARS1	HP:0000546	Retinal degeneration
6897	TARS1	HP:0000545	Myopia
6897	TARS1	HP:0001875	Neutropenia
6898	TAT	HP:0001250	Seizure
6898	TAT	HP:0001251	Ataxia
6898	TAT	HP:0001249	Intellectual disability
6898	TAT	HP:0000007	Autosomal recessive inheritance
6898	TAT	HP:0001337	Tremor
6898	TAT	HP:0002167	Abnormality of speech or vocalization
6898	TAT	HP:0000639	Nystagmus
6898	TAT	HP:0000613	Photophobia
6898	TAT	HP:0004337	Abnormality of amino acid metabolism
6898	TAT	HP:0000708	Atypical behavior
6898	TAT	HP:0003161	4-Hydroxyphenylpyruvic aciduria
6898	TAT	HP:0003231	Hypertyrosinemia
6898	TAT	HP:0000975	Hyperhidrosis
6898	TAT	HP:0000982	Palmoplantar keratoderma
6898	TAT	HP:0000951	Abnormality of the skin
6898	TAT	HP:0000962	Hyperkeratosis
6898	TAT	HP:0001597	Abnormality of the nail
6898	TAT	HP:0000272	Malar flattening
6898	TAT	HP:0000252	Microcephaly
6898	TAT	HP:0001510	Growth delay
6898	TAT	HP:0007812	Herpetiform corneal ulceration
6898	TAT	HP:0007957	Corneal opacity
6898	TAT	HP:0000572	Visual loss
6899	TBX1	HP:0001155	Abnormality of the hand
6899	TBX1	HP:0001156	Brachydactyly
6899	TBX1	HP:0001166	Arachnodactyly
6899	TBX1	HP:0001161	Hand polydactyly
6899	TBX1	HP:0001136	Retinal arteriolar tortuosity
6899	TBX1	HP:0002435	Meningocele
6899	TBX1	HP:0007302	Bipolar affective disorder
6899	TBX1	HP:0009908	Anterior creases of earlobe
6899	TBX1	HP:0007271	Occipital myelomeningocele
6899	TBX1	HP:0009891	Underdeveloped supraorbital ridges
6899	TBX1	HP:0002414	Spina bifida
6899	TBX1	HP:0001269	Hemiparesis
6899	TBX1	HP:0001281	Tetany
6899	TBX1	HP:0001256	Intellectual disability, mild
6899	TBX1	HP:0001250	Seizure
6899	TBX1	HP:0001252	Hypotonia
6899	TBX1	HP:0001249	Intellectual disability
6899	TBX1	HP:0001263	Global developmental delay
6899	TBX1	HP:0002566	Intestinal malrotation
6899	TBX1	HP:0010978	Abnormality of immune system physiology
6899	TBX1	HP:0008661	Urethral stenosis
6899	TBX1	HP:0000089	Renal hypoplasia
6899	TBX1	HP:0000083	Renal insufficiency
6899	TBX1	HP:0001397	Hepatic steatosis
6899	TBX1	HP:0000076	Vesicoureteral reflux
6899	TBX1	HP:0001369	Arthritis
6899	TBX1	HP:0000047	Hypospadias
6899	TBX1	HP:0000023	Inguinal hernia
6899	TBX1	HP:0000034	Hydrocele testis
6899	TBX1	HP:0025312	Esophoria
6899	TBX1	HP:0002691	Platybasia
6899	TBX1	HP:0000028	Cryptorchidism
6899	TBX1	HP:0008872	Feeding difficulties in infancy
6899	TBX1	HP:0001328	Specific learning disability
6899	TBX1	HP:0000007	Autosomal recessive inheritance
6899	TBX1	HP:0000006	Autosomal dominant inheritance
6899	TBX1	HP:0002650	Scoliosis
6899	TBX1	HP:0002619	Varicose veins
6899	TBX1	HP:0002627	Right aortic arch with mirror image branching
6899	TBX1	HP:0002607	Bowel incontinence
6899	TBX1	HP:0000194	Open mouth
6899	TBX1	HP:0000193	Bifid uvula
6899	TBX1	HP:0000164	Abnormality of the dentition
6899	TBX1	HP:0000160	Narrow mouth
6899	TBX1	HP:0000176	Submucous cleft hard palate
6899	TBX1	HP:0000175	Cleft palate
6899	TBX1	HP:0000138	Ovarian cyst
6899	TBX1	HP:0002705	High, narrow palate
6899	TBX1	HP:0000122	Unilateral renal agenesis
6899	TBX1	HP:0000113	Polycystic kidney dysplasia
6899	TBX1	HP:0000130	Abnormality of the uterus
6899	TBX1	HP:0000126	Hydronephrosis
6899	TBX1	HP:0000110	Renal dysplasia
6899	TBX1	HP:0002719	Recurrent infections
6899	TBX1	HP:0002721	Immunodeficiency
6899	TBX1	HP:0002023	Anal atresia
6899	TBX1	HP:0002020	Gastroesophageal reflux
6899	TBX1	HP:0002019	Constipation
6899	TBX1	HP:0003326	Myalgia
6899	TBX1	HP:0011800	Midface retrusion
6899	TBX1	HP:0100541	Femoral hernia
6899	TBX1	HP:0002099	Asthma
6899	TBX1	HP:0002139	Arrhinencephaly
6899	TBX1	HP:0002101	Abnormal lung lobation
6899	TBX1	HP:0002167	Abnormality of speech or vocalization
6899	TBX1	HP:0008211	Parathyroid agenesis
6899	TBX1	HP:0010515	Aplasia/Hypoplasia of the thymus
6899	TBX1	HP:0002239	Gastrointestinal hemorrhage
6899	TBX1	HP:0002251	Aganglionic megacolon
6899	TBX1	HP:0100765	Abnormality of the tonsils
6899	TBX1	HP:0100735	Hypertensive crisis
6899	TBX1	HP:0100750	Atelectasis
6899	TBX1	HP:0100753	Schizophrenia
6899	TBX1	HP:0011999	Paranoia
6899	TBX1	HP:0007018	Attention deficit hyperactivity disorder
6899	TBX1	HP:0020046	Accommodative esotropia
6899	TBX1	HP:0001051	Seborrheic dermatitis
6899	TBX1	HP:0001053	Hypopigmented skin patches
6899	TBX1	HP:0002381	Aphasia
6899	TBX1	HP:0001061	Acne
6899	TBX1	HP:0100627	Displacement of the urethral meatus
6899	TBX1	HP:0001081	Cholelithiasis
6899	TBX1	HP:0010769	Pilonidal sinus
6899	TBX1	HP:0008419	Intervertebral disc degeneration
6899	TBX1	HP:0002307	Drooling
6899	TBX1	HP:0004935	Pulmonary artery atresia
6899	TBX1	HP:0004209	Clinodactyly of the 5th finger
6899	TBX1	HP:0031817	Decreased circulating parathyroid hormone level
6899	TBX1	HP:0005562	Multiple renal cysts
6899	TBX1	HP:0000646	Amblyopia
6899	TBX1	HP:0000648	Optic atrophy
6899	TBX1	HP:0000647	Sclerocornea
6899	TBX1	HP:0000627	Posterior embryotoxon
6899	TBX1	HP:0001939	Abnormality of metabolism/homeostasis
6899	TBX1	HP:0000600	Abnormality of the pharynx
6899	TBX1	HP:0001903	Anemia
6899	TBX1	HP:0010055	Broad hallux
6899	TBX1	HP:0000682	Abnormal dental enamel morphology
6899	TBX1	HP:0011324	Multiple suture craniosynostosis
6899	TBX1	HP:0000670	Carious teeth
6899	TBX1	HP:0001999	Abnormal facial shape
6899	TBX1	HP:0004322	Short stature
6899	TBX1	HP:0030680	Abnormality of cardiovascular system morphology
6899	TBX1	HP:0004383	Hypoplastic left heart
6899	TBX1	HP:0005692	Joint hyperflexibility
6899	TBX1	HP:0012745	Short palpebral fissure
6899	TBX1	HP:0012732	Anorectal anomaly
6899	TBX1	HP:0000765	Abnormal thorax morphology
6899	TBX1	HP:0000739	Anxiety
6899	TBX1	HP:0000733	Abnormal repetitive mannerisms
6899	TBX1	HP:0000750	Delayed speech and language development
6899	TBX1	HP:0000716	Depression
6899	TBX1	HP:0000718	Aggressive behavior
6899	TBX1	HP:0000717	Autism
6899	TBX1	HP:0000712	Emotional lability
6899	TBX1	HP:0000722	Compulsive behaviors
6899	TBX1	HP:0000708	Atypical behavior
6899	TBX1	HP:0011496	Corneal neovascularization
6899	TBX1	HP:0000778	Hypoplasia of the thymus
6899	TBX1	HP:0000777	Abnormality of the thymus
6899	TBX1	HP:0000929	Abnormal skull morphology
6899	TBX1	HP:0004467	Preauricular pit
6899	TBX1	HP:0000860	Parathyroid hypoplasia
6899	TBX1	HP:0012841	Retinal vascular tortuosity
6899	TBX1	HP:0000836	Hyperthyroidism
6899	TBX1	HP:0000829	Hypoparathyroidism
6899	TBX1	HP:0000821	Hypothyroidism
6899	TBX1	HP:0011590	Double aortic arch
6899	TBX1	HP:0011662	Tricuspid atresia
6899	TBX1	HP:0100259	Postaxial polydactyly
6899	TBX1	HP:0000979	Purpura
6899	TBX1	HP:0011611	Interrupted aortic arch
6899	TBX1	HP:0045025	Narrow palpebral fissure
6899	TBX1	HP:0000286	Epicanthus
6899	TBX1	HP:0000278	Retrognathia
6899	TBX1	HP:0000262	Turricephaly
6899	TBX1	HP:0000275	Narrow face
6899	TBX1	HP:0000276	Long face
6899	TBX1	HP:0000272	Malar flattening
6899	TBX1	HP:0000268	Dolichocephaly
6899	TBX1	HP:0005105	Abnormal nasal morphology
6899	TBX1	HP:0000238	Hydrocephalus
6899	TBX1	HP:0000252	Microcephaly
6899	TBX1	HP:0000220	Velopharyngeal insufficiency
6899	TBX1	HP:0000218	High palate
6899	TBX1	HP:0001561	Polyhydramnios
6899	TBX1	HP:0000233	Thin vermilion border
6899	TBX1	HP:0001537	Umbilical hernia
6899	TBX1	HP:0000202	Orofacial cleft
6899	TBX1	HP:0000201	Pierre-Robin sequence
6899	TBX1	HP:0001508	Failure to thrive
6899	TBX1	HP:0001511	Intrauterine growth retardation
6899	TBX1	HP:0001510	Growth delay
6899	TBX1	HP:0001513	Obesity
6899	TBX1	HP:0006510	Chronic pulmonary obstruction
6899	TBX1	HP:0000385	Small earlobe
6899	TBX1	HP:0000396	Overfolded helix
6899	TBX1	HP:0000389	Chronic otitis media
6899	TBX1	HP:0006549	Unilateral primary pulmonary dysgenesis
6899	TBX1	HP:0006532	Recurrent pneumonia
6899	TBX1	HP:0001601	Laryngomalacia
6899	TBX1	HP:0001611	Hypernasal speech
6899	TBX1	HP:0002901	Hypocalcemia
6899	TBX1	HP:0000365	Hearing impairment
6899	TBX1	HP:0000370	Abnormality of the middle ear
6899	TBX1	HP:0000369	Low-set ears
6899	TBX1	HP:0001674	Complete atrioventricular canal defect
6899	TBX1	HP:0000343	Long philtrum
6899	TBX1	HP:0001669	Transposition of the great arteries
6899	TBX1	HP:0000337	Broad forehead
6899	TBX1	HP:0002999	Patellar dislocation
6899	TBX1	HP:0001680	Coarctation of aorta
6899	TBX1	HP:0000348	High forehead
6899	TBX1	HP:0000347	Micrognathia
6899	TBX1	HP:0012303	Abnormal aortic arch morphology
6899	TBX1	HP:0000319	Smooth philtrum
6899	TBX1	HP:0000316	Hypertelorism
6899	TBX1	HP:0001646	Abnormal aortic valve morphology
6899	TBX1	HP:0001643	Patent ductus arteriosus
6899	TBX1	HP:0001660	Truncus arteriosus
6899	TBX1	HP:0000322	Short philtrum
6899	TBX1	HP:0002960	Autoimmunity
6899	TBX1	HP:0001629	Ventricular septal defect
6899	TBX1	HP:0001641	Abnormal pulmonary valve morphology
6899	TBX1	HP:0001636	Tetralogy of Fallot
6899	TBX1	HP:0001631	Atrial septal defect
6899	TBX1	HP:0000403	Recurrent otitis media
6899	TBX1	HP:0000405	Conductive hearing impairment
6899	TBX1	HP:0001719	Double outlet right ventricle
6899	TBX1	HP:0000486	Strabismus
6899	TBX1	HP:0000494	Downslanted palpebral fissures
6899	TBX1	HP:0000492	Abnormal eyelid morphology
6899	TBX1	HP:0000457	Depressed nasal ridge
6899	TBX1	HP:0000470	Short neck
6899	TBX1	HP:0011108	Recurrent sinusitis
6899	TBX1	HP:0000453	Choanal atresia
6899	TBX1	HP:0000445	Wide nose
6899	TBX1	HP:0000414	Bulbous nose
6899	TBX1	HP:0001744	Splenomegaly
6899	TBX1	HP:0001762	Talipes equinovarus
6899	TBX1	HP:0000431	Wide nasal bridge
6899	TBX1	HP:0000430	Underdeveloped nasal alae
6899	TBX1	HP:0000426	Prominent nasal bridge
6899	TBX1	HP:0005435	Impaired T cell function
6899	TBX1	HP:0000518	Cataract
6899	TBX1	HP:0000520	Proptosis
6899	TBX1	HP:0001829	Foot polydactyly
6899	TBX1	HP:0000506	Telecanthus
6899	TBX1	HP:0000508	Ptosis
6899	TBX1	HP:0000501	Glaucoma
6899	TBX1	HP:0000598	Abnormality of the ear
6899	TBX1	HP:0000582	Upslanted palpebral fissure
6899	TBX1	HP:0000581	Blepharophimosis
6899	TBX1	HP:0000577	Exotropia
6899	TBX1	HP:0000568	Microphthalmia
6899	TBX1	HP:0000565	Esotropia
6899	TBX1	HP:0001872	Abnormality of thrombocytes
6899	TBX1	HP:0001883	Talipes
6899	TBX1	HP:0001873	Thrombocytopenia
6900	CNTN2	HP:0001249	Intellectual disability
6900	CNTN2	HP:0033715	Hippocampal sclerosis
6900	CNTN2	HP:0007359	Focal-onset seizure
6900	CNTN2	HP:0000007	Autosomal recessive inheritance
6900	CNTN2	HP:0001337	Tremor
6900	CNTN2	HP:0001336	Myoclonus
6900	CNTN2	HP:0002069	Bilateral tonic-clonic seizure
6900	CNTN2	HP:0100576	Amaurosis fugax
6900	CNTN2	HP:0002197	Generalized-onset seizure
6900	CNTN2	HP:0002384	Focal impaired awareness seizure
6900	CNTN2	HP:0002378	Hand tremor
6900	CNTN2	HP:0002353	EEG abnormality
6900	CNTN2	HP:0002315	Headache
6900	CNTN2	HP:0003621	Juvenile onset
6900	CNTN2	HP:0011182	Interictal epileptiform activity
6900	CNTN2	HP:0011165	Focal sensory seizure with visual features
6901	TAFAZZIN	HP:0003756	Skeletal myopathy
6901	TAFAZZIN	HP:0001270	Motor delay
6901	TAFAZZIN	HP:0001288	Gait disturbance
6901	TAFAZZIN	HP:0001263	Global developmental delay
6901	TAFAZZIN	HP:0033755	Increased left ventricular end-diastolic volume
6901	TAFAZZIN	HP:0001419	X-linked recessive inheritance
6901	TAFAZZIN	HP:0003391	Gowers sign
6901	TAFAZZIN	HP:0002058	Myopathic facies
6901	TAFAZZIN	HP:0100578	Lipoatrophy
6901	TAFAZZIN	HP:0040289	Cyclic neutropenia
6901	TAFAZZIN	HP:0003457	EMG abnormality
6901	TAFAZZIN	HP:0003593	Infantile onset
6901	TAFAZZIN	HP:0003546	Exercise intolerance
6901	TAFAZZIN	HP:0003535	3-Methylglutaconic aciduria
6901	TAFAZZIN	HP:0002286	Fair hair
6901	TAFAZZIN	HP:0008322	Abnormal mitochondrial morphology
6901	TAFAZZIN	HP:0004840	Hypochromic microcytic anemia
6901	TAFAZZIN	HP:0004913	Intermittent lactic acidemia
6901	TAFAZZIN	HP:0001913	Granulocytopenia
6901	TAFAZZIN	HP:0003198	Myopathy
6901	TAFAZZIN	HP:0003236	Elevated circulating creatine kinase concentration
6901	TAFAZZIN	HP:0000982	Palmoplantar keratoderma
6901	TAFAZZIN	HP:0011675	Arrhythmia
6901	TAFAZZIN	HP:0000293	Full cheeks
6901	TAFAZZIN	HP:0001508	Failure to thrive
6901	TAFAZZIN	HP:0002837	Recurrent bronchitis
6901	TAFAZZIN	HP:0001510	Growth delay
6901	TAFAZZIN	HP:0012378	Fatigue
6901	TAFAZZIN	HP:0005180	Tricuspid regurgitation
6901	TAFAZZIN	HP:0000337	Broad forehead
6901	TAFAZZIN	HP:0000348	High forehead
6901	TAFAZZIN	HP:0000311	Round face
6901	TAFAZZIN	HP:0001644	Dilated cardiomyopathy
6901	TAFAZZIN	HP:0001639	Hypertrophic cardiomyopathy
6901	TAFAZZIN	HP:0001635	Congestive heart failure
6901	TAFAZZIN	HP:0000307	Pointed chin
6901	TAFAZZIN	HP:0000303	Mandibular prognathia
6901	TAFAZZIN	HP:0000407	Sensorineural hearing impairment
6901	TAFAZZIN	HP:0000400	Macrotia
6901	TAFAZZIN	HP:0001706	Endocardial fibroelastosis
6901	TAFAZZIN	HP:0000490	Deeply set eye
6901	TAFAZZIN	HP:0001762	Talipes equinovarus
6901	TAFAZZIN	HP:0005437	Recurrent infections in infancy and early childhood
6901	TAFAZZIN	HP:0001874	Abnormality of neutrophils
6901	TAFAZZIN	HP:0001875	Neutropenia
6904	TBCD	HP:0002465	Poor speech
6904	TBCD	HP:0002445	Tetraplegia
6904	TBCD	HP:0001298	Encephalopathy
6904	TBCD	HP:0001272	Cerebellar atrophy
6904	TBCD	HP:0001284	Areflexia
6904	TBCD	HP:0001250	Seizure
6904	TBCD	HP:0001252	Hypotonia
6904	TBCD	HP:0001251	Ataxia
6904	TBCD	HP:0001249	Intellectual disability
6904	TBCD	HP:0001263	Global developmental delay
6904	TBCD	HP:0001257	Spasticity
6904	TBCD	HP:0007366	Atrophy/Degeneration affecting the brainstem
6904	TBCD	HP:0002540	Inability to walk
6904	TBCD	HP:0002529	Neuronal loss in central nervous system
6904	TBCD	HP:0002524	Cataplexy
6904	TBCD	HP:0002506	Diffuse cerebral atrophy
6904	TBCD	HP:0001374	Congenital hip dislocation
6904	TBCD	HP:0000020	Urinary incontinence
6904	TBCD	HP:0001348	Brisk reflexes
6904	TBCD	HP:0001357	Plagiocephaly
6904	TBCD	HP:0001332	Dystonia
6904	TBCD	HP:0001324	Muscle weakness
6904	TBCD	HP:0000011	Neurogenic bladder
6904	TBCD	HP:0001344	Absent speech
6904	TBCD	HP:0000007	Autosomal recessive inheritance
6904	TBCD	HP:0001308	Tongue fasciculations
6904	TBCD	HP:0002650	Scoliosis
6904	TBCD	HP:0002607	Bowel incontinence
6904	TBCD	HP:0008947	Infantile muscular hypotonia
6904	TBCD	HP:0002019	Constipation
6904	TBCD	HP:0002015	Dysphagia
6904	TBCD	HP:0002007	Frontal bossing
6904	TBCD	HP:0002093	Respiratory insufficiency
6904	TBCD	HP:0002069	Bilateral tonic-clonic seizure
6904	TBCD	HP:0002061	Lower limb spasticity
6904	TBCD	HP:0002079	Hypoplasia of the corpus callosum
6904	TBCD	HP:0002120	Cerebral cortical atrophy
6904	TBCD	HP:0002119	Ventriculomegaly
6904	TBCD	HP:0003429	CNS hypomyelination
6904	TBCD	HP:0002187	Intellectual disability, profound
6904	TBCD	HP:0002191	Progressive spasticity
6904	TBCD	HP:0002171	Gliosis
6904	TBCD	HP:0003593	Infantile onset
6904	TBCD	HP:0003577	Congenital onset
6904	TBCD	HP:0004887	Respiratory failure requiring assisted ventilation
6904	TBCD	HP:0007002	Motor axonal neuropathy
6904	TBCD	HP:0011968	Feeding difficulties
6904	TBCD	HP:0002380	Fasciculations
6904	TBCD	HP:0002376	Developmental regression
6904	TBCD	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
6904	TBCD	HP:0002342	Intellectual disability, moderate
6904	TBCD	HP:0001007	Hirsutism
6904	TBCD	HP:0010818	Generalized tonic seizure
6904	TBCD	HP:0009765	Low hanging columella
6904	TBCD	HP:0007179	Absent smooth pursuit
6904	TBCD	HP:0006808	Cerebral hypomyelination
6904	TBCD	HP:0000639	Nystagmus
6904	TBCD	HP:0000648	Optic atrophy
6904	TBCD	HP:0000687	Widely spaced teeth
6904	TBCD	HP:0012646	Retractile testis
6904	TBCD	HP:0000664	Synophrys
6904	TBCD	HP:0006986	Upper limb spasticity
6904	TBCD	HP:0003084	Fractures of the long bones
6904	TBCD	HP:0000767	Pectus excavatum
6904	TBCD	HP:0000768	Pectus carinatum
6904	TBCD	HP:0000733	Abnormal repetitive mannerisms
6904	TBCD	HP:0000750	Delayed speech and language development
6904	TBCD	HP:0011451	Primary microcephaly
6904	TBCD	HP:0003236	Elevated circulating creatine kinase concentration
6904	TBCD	HP:0003202	Skeletal muscle atrophy
6904	TBCD	HP:0045075	Sparse eyebrow
6904	TBCD	HP:0002804	Arthrogryposis multiplex congenita
6904	TBCD	HP:0000252	Microcephaly
6904	TBCD	HP:0002878	Respiratory failure
6904	TBCD	HP:0001561	Polyhydramnios
6904	TBCD	HP:0001510	Growth delay
6904	TBCD	HP:0011097	Epileptic spasm
6904	TBCD	HP:0006532	Recurrent pneumonia
6904	TBCD	HP:0000341	Narrow forehead
6904	TBCD	HP:0000347	Micrognathia
6904	TBCD	HP:0000316	Hypertelorism
6904	TBCD	HP:0000400	Macrotia
6904	TBCD	HP:0000486	Strabismus
6904	TBCD	HP:0000490	Deeply set eye
6904	TBCD	HP:0012450	Chronic constipation
6904	TBCD	HP:0005484	Secondary microcephaly
6904	TBCD	HP:0000582	Upslanted palpebral fissure
6905	TBCE	HP:0002497	Spastic ataxia
6905	TBCE	HP:0002448	Progressive encephalopathy
6905	TBCE	HP:0007269	Spinal muscular atrophy
6905	TBCE	HP:0008572	External ear malformation
6905	TBCE	HP:0002425	Anarthria
6905	TBCE	HP:0001298	Encephalopathy
6905	TBCE	HP:0001290	Generalized hypotonia
6905	TBCE	HP:0001272	Cerebellar atrophy
6905	TBCE	HP:0001285	Spastic tetraparesis
6905	TBCE	HP:0001281	Tetany
6905	TBCE	HP:0001250	Seizure
6905	TBCE	HP:0001251	Ataxia
6905	TBCE	HP:0001249	Intellectual disability
6905	TBCE	HP:0001260	Dysarthria
6905	TBCE	HP:0001263	Global developmental delay
6905	TBCE	HP:0001257	Spasticity
6905	TBCE	HP:0008736	Hypoplasia of penis
6905	TBCE	HP:0002510	Spastic tetraplegia
6905	TBCE	HP:0000054	Micropenis
6905	TBCE	HP:0000028	Cryptorchidism
6905	TBCE	HP:0008897	Postnatal growth retardation
6905	TBCE	HP:0008846	Severe intrauterine growth retardation
6905	TBCE	HP:0001344	Absent speech
6905	TBCE	HP:0000007	Autosomal recessive inheritance
6905	TBCE	HP:0002650	Scoliosis
6905	TBCE	HP:0000193	Bifid uvula
6905	TBCE	HP:0000164	Abnormality of the dentition
6905	TBCE	HP:0001476	Delayed closure of the anterior fontanelle
6905	TBCE	HP:0008936	Axial hypotonia
6905	TBCE	HP:0002750	Delayed skeletal maturation
6905	TBCE	HP:0002718	Recurrent bacterial infections
6905	TBCE	HP:0002007	Frontal bossing
6905	TBCE	HP:0002079	Hypoplasia of the corpus callosum
6905	TBCE	HP:0008198	Congenital hypoparathyroidism
6905	TBCE	HP:0003477	Peripheral axonal neuropathy
6905	TBCE	HP:0003472	Hypocalcemic tetany
6905	TBCE	HP:0002119	Ventriculomegaly
6905	TBCE	HP:0003444	EMG: chronic denervation signs
6905	TBCE	HP:0003416	Spinal canal stenosis
6905	TBCE	HP:0002199	Hypocalcemic seizures
6905	TBCE	HP:0003593	Infantile onset
6905	TBCE	HP:0003577	Congenital onset
6905	TBCE	HP:0003561	Birth length less than 3rd percentile
6905	TBCE	HP:0002205	Recurrent respiratory infections
6905	TBCE	HP:0003508	Proportionate short stature
6905	TBCE	HP:0003698	Difficulty standing
6905	TBCE	HP:0003693	Distal amyotrophy
6905	TBCE	HP:0002376	Developmental regression
6905	TBCE	HP:0003676	Progressive
6905	TBCE	HP:0200055	Small hand
6905	TBCE	HP:0007199	Progressive spastic paraparesis
6905	TBCE	HP:0004279	Short palm
6905	TBCE	HP:0031817	Decreased circulating parathyroid hormone level
6905	TBCE	HP:0000648	Optic atrophy
6905	TBCE	HP:0001903	Anemia
6905	TBCE	HP:0012678	Iron accumulation in substantia nigra
6905	TBCE	HP:0000682	Abnormal dental enamel morphology
6905	TBCE	HP:0009027	Foot dorsiflexor weakness
6905	TBCE	HP:0000670	Carious teeth
6905	TBCE	HP:0004322	Short stature
6905	TBCE	HP:0004331	Decreased skull ossification
6905	TBCE	HP:0005686	Patchy osteosclerosis
6905	TBCE	HP:0011463	Childhood onset
6905	TBCE	HP:0003100	Slender long bone
6905	TBCE	HP:0003198	Myopathy
6905	TBCE	HP:0005791	Cortical thickening of long bone diaphyses
6905	TBCE	HP:0000890	Long clavicles
6905	TBCE	HP:0000883	Thin ribs
6905	TBCE	HP:0000829	Hypoparathyroidism
6905	TBCE	HP:0000824	Decreased response to growth hormone stimulation test
6905	TBCE	HP:0100254	Stenosis of the medullary cavity of the long bones
6905	TBCE	HP:0008056	Aplasia/Hypoplasia affecting the eye
6905	TBCE	HP:0000293	Full cheeks
6905	TBCE	HP:0000270	Delayed cranial suture closure
6905	TBCE	HP:0006470	Thin long bone diaphyses
6905	TBCE	HP:0000252	Microcephaly
6905	TBCE	HP:0000219	Thin upper lip vermilion
6905	TBCE	HP:0000233	Thin vermilion border
6905	TBCE	HP:0001507	Growth abnormality
6905	TBCE	HP:0001511	Intrauterine growth retardation
6905	TBCE	HP:0001510	Growth delay
6905	TBCE	HP:0005214	Intestinal obstruction
6905	TBCE	HP:0002917	Hypomagnesemia
6905	TBCE	HP:0002905	Hyperphosphatemia
6905	TBCE	HP:0002901	Hypocalcemia
6905	TBCE	HP:0000358	Posteriorly rotated ears
6905	TBCE	HP:0000369	Low-set ears
6905	TBCE	HP:0000368	Low-set, posteriorly rotated ears
6905	TBCE	HP:0000343	Long philtrum
6905	TBCE	HP:0000348	High forehead
6905	TBCE	HP:0000347	Micrognathia
6905	TBCE	HP:0000316	Hypertelorism
6905	TBCE	HP:0007957	Corneal opacity
6905	TBCE	HP:0005374	Cellular immunodeficiency
6905	TBCE	HP:0006645	Thin clavicles
6905	TBCE	HP:0005280	Depressed nasal bridge
6905	TBCE	HP:0000483	Astigmatism
6905	TBCE	HP:0000490	Deeply set eye
6905	TBCE	HP:0012448	Delayed myelination
6905	TBCE	HP:0001773	Short foot
6905	TBCE	HP:0000444	Convex nasal ridge
6905	TBCE	HP:0005450	Calvarial osteosclerosis
6905	TBCE	HP:0011220	Prominent forehead
6905	TBCE	HP:0000568	Microphthalmia
6907	TBL1X	HP:0001417	X-linked inheritance
6907	TBL1X	HP:0002019	Constipation
6907	TBL1X	HP:0011787	Central hypothyroidism
6907	TBL1X	HP:0003593	Infantile onset
6907	TBL1X	HP:0007018	Attention deficit hyperactivity disorder
6907	TBL1X	HP:0031987	Diminished ability to concentrate
6907	TBL1X	HP:0003124	Hypercholesterolemia
6907	TBL1X	HP:0000869	Secondary amenorrhea
6907	TBL1X	HP:0033075	Inappropriately normal thyroid-stimulating hormone level
6907	TBL1X	HP:0033078	Decreased circulating free T4 concentration
6907	TBL1X	HP:0000256	Macrocephaly
6908	TBP	HP:0007311	Short stepped shuffling gait
6908	TBP	HP:0007256	Abnormal pyramidal sign
6908	TBP	HP:0003745	Sporadic
6908	TBP	HP:0002403	Positive Romberg sign
6908	TBP	HP:0001272	Cerebellar atrophy
6908	TBP	HP:0001268	Mental deterioration
6908	TBP	HP:0001289	Confusion
6908	TBP	HP:0001288	Gait disturbance
6908	TBP	HP:0001250	Seizure
6908	TBP	HP:0001251	Ataxia
6908	TBP	HP:0001260	Dysarthria
6908	TBP	HP:0001257	Spasticity
6908	TBP	HP:0007366	Atrophy/Degeneration affecting the brainstem
6908	TBP	HP:0002529	Neuronal loss in central nervous system
6908	TBP	HP:0002506	Diffuse cerebral atrophy
6908	TBP	HP:0000020	Urinary incontinence
6908	TBP	HP:0012082	Cerebellar Purkinje layer atrophy
6908	TBP	HP:0001332	Dystonia
6908	TBP	HP:0000012	Urinary urgency
6908	TBP	HP:0001337	Tremor
6908	TBP	HP:0000006	Autosomal dominant inheritance
6908	TBP	HP:0001336	Myoclonus
6908	TBP	HP:0001310	Dysmetria
6908	TBP	HP:0001300	Parkinsonism
6908	TBP	HP:0007668	Impaired pursuit initiation and maintenance
6908	TBP	HP:0002019	Constipation
6908	TBP	HP:0002015	Dysphagia
6908	TBP	HP:0002080	Intention tremor
6908	TBP	HP:0002067	Bradykinesia
6908	TBP	HP:0002066	Gait ataxia
6908	TBP	HP:0002063	Rigidity
6908	TBP	HP:0002072	Chorea
6908	TBP	HP:0002070	Limb ataxia
6908	TBP	HP:0002136	Broad-based gait
6908	TBP	HP:0002186	Apraxia
6908	TBP	HP:0002171	Gliosis
6908	TBP	HP:0002172	Postural instability
6908	TBP	HP:0003596	Middle age onset
6908	TBP	HP:0003587	Insidious onset
6908	TBP	HP:0003584	Late onset
6908	TBP	HP:0003581	Adult onset
6908	TBP	HP:0011999	Paranoia
6908	TBP	HP:0011960	Substantia nigra gliosis
6908	TBP	HP:0007058	Generalized cerebral atrophy/hypoplasia
6908	TBP	HP:0002360	Sleep disturbance
6908	TBP	HP:0003676	Progressive
6908	TBP	HP:0002356	Writer's cramp
6908	TBP	HP:0002322	Resting tremor
6908	TBP	HP:0002300	Mutism
6908	TBP	HP:0000640	Gaze-evoked nystagmus
6908	TBP	HP:0000643	Blepharospasm
6908	TBP	HP:0004305	Involuntary movements
6908	TBP	HP:0031908	Micrographia
6908	TBP	HP:0000757	Lack of insight
6908	TBP	HP:0000751	Personality changes
6908	TBP	HP:0000738	Hallucinations
6908	TBP	HP:0000743	Frontal release signs
6908	TBP	HP:0000716	Depression
6908	TBP	HP:0000718	Aggressive behavior
6908	TBP	HP:0000727	Frontal lobe dementia
6908	TBP	HP:0000726	Dementia
6908	TBP	HP:0000708	Atypical behavior
6908	TBP	HP:0011462	Young adult onset
6908	TBP	HP:0100315	Lewy bodies
6908	TBP	HP:0000298	Mask-like facies
6908	TBP	HP:0012332	Abnormal autonomic nervous system physiology
6908	TBP	HP:0001621	Weak voice
6908	TBP	HP:0000473	Torticollis
6909	TBX2	HP:0009918	Ectopia pupillae
6909	TBX2	HP:0000006	Autosomal dominant inheritance
6909	TBX2	HP:0002650	Scoliosis
6909	TBX2	HP:0000189	Narrow palate
6909	TBX2	HP:0000175	Cleft palate
6909	TBX2	HP:0410030	Cleft lip
6909	TBX2	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger
6909	TBX2	HP:0003577	Congenital onset
6909	TBX2	HP:0007018	Attention deficit hyperactivity disorder
6909	TBX2	HP:0001076	Glabellar hemangioma
6909	TBX2	HP:0011342	Mild global developmental delay
6909	TBX2	HP:0004322	Short stature
6909	TBX2	HP:0000729	Autistic behavior
6909	TBX2	HP:0000912	Sprengel anomaly
6909	TBX2	HP:0000872	Hashimoto thyroiditis
6909	TBX2	HP:0000829	Hypoparathyroidism
6909	TBX2	HP:0000824	Decreased response to growth hormone stimulation test
6909	TBX2	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger
6909	TBX2	HP:0000286	Epicanthus
6909	TBX2	HP:0000294	Low anterior hairline
6909	TBX2	HP:0002808	Kyphosis
6909	TBX2	HP:0000248	Brachycephaly
6909	TBX2	HP:0002846	Abnormal B cell morphology
6909	TBX2	HP:0000378	Cupped ear
6909	TBX2	HP:0000396	Overfolded helix
6909	TBX2	HP:0002937	Hemivertebrae
6909	TBX2	HP:0000369	Low-set ears
6909	TBX2	HP:0000316	Hypertelorism
6909	TBX2	HP:0001643	Patent ductus arteriosus
6909	TBX2	HP:0001642	Pulmonic stenosis
6909	TBX2	HP:0000325	Triangular face
6909	TBX2	HP:0001631	Atrial septal defect
6909	TBX2	HP:0005359	Aplasia of the thymus
6909	TBX2	HP:0001719	Double outlet right ventricle
6909	TBX2	HP:0005280	Depressed nasal bridge
6909	TBX2	HP:0000455	Broad nasal tip
6909	TBX2	HP:0000470	Short neck
6909	TBX2	HP:0000465	Webbed neck
6909	TBX2	HP:0000437	Depressed nasal tip
6909	TBX2	HP:0005403	T lymphocytopenia
6910	TBX5	HP:0001171	Split hand
6910	TBX5	HP:0001159	Syndactyly
6910	TBX5	HP:0009944	Partial duplication of thumb phalanx
6910	TBX5	HP:0001199	Triphalangeal thumb
6910	TBX5	HP:0001197	Abnormality of prenatal development or birth
6910	TBX5	HP:0001191	Abnormal carpal morphology
6910	TBX5	HP:0001279	Syncope
6910	TBX5	HP:0001250	Seizure
6910	TBX5	HP:0001245	Small thenar eminence
6910	TBX5	HP:0006101	Finger syndactyly
6910	TBX5	HP:0001377	Limited elbow extension
6910	TBX5	HP:0001387	Joint stiffness
6910	TBX5	HP:0000006	Autosomal dominant inheritance
6910	TBX5	HP:0002650	Scoliosis
6910	TBX5	HP:0003982	Aplasia of the ulna
6910	TBX5	HP:0003974	Absent radius
6910	TBX5	HP:0500018	Abnormal cardiac exercise stress test
6910	TBX5	HP:0011705	First degree atrioventricular block
6910	TBX5	HP:0005916	Abnormal metacarpal morphology
6910	TBX5	HP:0003468	Abnormal vertebral morphology
6910	TBX5	HP:0004757	Paroxysmal atrial fibrillation
6910	TBX5	HP:0011927	Short digit
6910	TBX5	HP:0200021	Down-sloping shoulders
6910	TBX5	HP:0009829	Phocomelia
6910	TBX5	HP:0010772	Anomalous pulmonary venous return
6910	TBX5	HP:0009777	Absent thumb
6910	TBX5	HP:0009751	Aplasia of the pectoralis major muscle
6910	TBX5	HP:0011304	Broad thumb
6910	TBX5	HP:0004308	Ventricular arrhythmia
6910	TBX5	HP:0030680	Abnormality of cardiovascular system morphology
6910	TBX5	HP:0004383	Hypoplastic left heart
6910	TBX5	HP:0003063	Abnormality of the humerus
6910	TBX5	HP:0003022	Hypoplasia of the ulna
6910	TBX5	HP:0000772	Abnormal rib morphology
6910	TBX5	HP:0000767	Pectus excavatum
6910	TBX5	HP:0000912	Sprengel anomaly
6910	TBX5	HP:0005792	Short humerus
6910	TBX5	HP:0000889	Abnormal clavicle morphology
6910	TBX5	HP:0040019	Finger clinodactyly
6910	TBX5	HP:0000894	Short clavicles
6910	TBX5	HP:0005135	Abnormal T-wave
6910	TBX5	HP:0002808	Kyphosis
6910	TBX5	HP:0006501	Aplasia/Hypoplasia of the radius
6910	TBX5	HP:0002943	Thoracic scoliosis
6910	TBX5	HP:0005184	Prolonged QTc interval
6910	TBX5	HP:0002900	Hypokalemia
6910	TBX5	HP:0000365	Hearing impairment
6910	TBX5	HP:0001688	Sinus bradycardia
6910	TBX5	HP:0012332	Abnormal autonomic nervous system physiology
6910	TBX5	HP:0001664	Torsade de pointes
6910	TBX5	HP:0001684	Secundum atrial septal defect
6910	TBX5	HP:0001679	Abnormal aortic morphology
6910	TBX5	HP:0001678	Atrioventricular block
6910	TBX5	HP:0001643	Patent ductus arteriosus
6910	TBX5	HP:0001645	Sudden cardiac death
6910	TBX5	HP:0002974	Radioulnar synostosis
6910	TBX5	HP:0002984	Hypoplasia of the radius
6910	TBX5	HP:0001629	Ventricular septal defect
6910	TBX5	HP:0001631	Atrial septal defect
6910	TBX5	HP:0006695	Atrioventricular canal defect
6911	TBX6	HP:0000008	Abnormal morphology of female internal genitalia
6911	TBX6	HP:0000007	Autosomal recessive inheritance
6911	TBX6	HP:0000006	Autosomal dominant inheritance
6911	TBX6	HP:0002650	Scoliosis
6911	TBX6	HP:0000175	Cleft palate
6911	TBX6	HP:0003307	Hyperlordosis
6911	TBX6	HP:0003316	Butterfly vertebrae
6911	TBX6	HP:0003396	Syringomyelia
6911	TBX6	HP:0003422	Vertebral segmentation defect
6911	TBX6	HP:0003419	Low back pain
6911	TBX6	HP:0003577	Congenital onset
6911	TBX6	HP:0002205	Recurrent respiratory infections
6911	TBX6	HP:0003510	Severe short stature
6911	TBX6	HP:0003521	Disproportionate short-trunk short stature
6911	TBX6	HP:0030680	Abnormality of cardiovascular system morphology
6911	TBX6	HP:0000772	Abnormal rib morphology
6911	TBX6	HP:0000768	Pectus carinatum
6911	TBX6	HP:0000913	Posterior rib fusion
6911	TBX6	HP:0000921	Missing ribs
6911	TBX6	HP:0003298	Spina bifida occulta
6911	TBX6	HP:0010306	Short thorax
6911	TBX6	HP:0005815	Supernumerary ribs
6911	TBX6	HP:0000256	Macrocephaly
6911	TBX6	HP:0000269	Prominent occiput
6911	TBX6	HP:0005107	Abnormal sacrum morphology
6911	TBX6	HP:0000252	Microcephaly
6911	TBX6	HP:0001511	Intrauterine growth retardation
6911	TBX6	HP:0002937	Hemivertebrae
6911	TBX6	HP:0002948	Vertebral fusion
6911	TBX6	HP:0000463	Anteverted nares
6911	TBX6	HP:0000470	Short neck
6911	TBX6	HP:0000431	Wide nasal bridge
6911	TBX6	HP:0000582	Upslanted palpebral fissure
6913	TBX15	HP:0001156	Brachydactyly
6913	TBX15	HP:0009937	Facial hirsutism
6913	TBX15	HP:0001239	Wrist flexion contracture
6913	TBX15	HP:0006077	Absent proximal finger flexion creases
6913	TBX15	HP:0000061	Ambiguous genitalia, female
6913	TBX15	HP:0001374	Congenital hip dislocation
6913	TBX15	HP:0000033	Ambiguous genitalia, male
6913	TBX15	HP:0002693	Abnormality of the skull base
6913	TBX15	HP:0008826	Dislocation of the femoral head
6913	TBX15	HP:0000007	Autosomal recessive inheritance
6913	TBX15	HP:0003943	Abnormality of the joint spaces of the elbow
6913	TBX15	HP:0008905	Rhizomelia
6913	TBX15	HP:0000175	Cleft palate
6913	TBX15	HP:0000171	Microglossia
6913	TBX15	HP:0000126	Hydronephrosis
6913	TBX15	HP:0004692	4-5 toe syndactyly
6913	TBX15	HP:0004691	2-3 toe syndactyly
6913	TBX15	HP:0005989	Redundant neck skin
6913	TBX15	HP:0002007	Frontal bossing
6913	TBX15	HP:0009473	Joint contracture of the hand
6913	TBX15	HP:0003498	Disproportionate short stature
6913	TBX15	HP:0002162	Low posterior hairline
6913	TBX15	HP:0002324	Hydranencephaly
6913	TBX15	HP:0004987	Mesomelic leg shortening
6913	TBX15	HP:0008488	Anterior rounding of vertebral bodies
6913	TBX15	HP:0008472	Prominent protruding coccyx
6913	TBX15	HP:0004209	Clinodactyly of the 5th finger
6913	TBX15	HP:0009085	Alveolar ridge overgrowth
6913	TBX15	HP:0004322	Short stature
6913	TBX15	HP:0003083	Dislocated radial head
6913	TBX15	HP:0003041	Humeroradial synostosis
6913	TBX15	HP:0003027	Mesomelia
6913	TBX15	HP:0012745	Short palpebral fissure
6913	TBX15	HP:0003175	Hypoplastic ischia
6913	TBX15	HP:0003173	Hypoplastic pubic bone
6913	TBX15	HP:0000882	Hypoplastic scapulae
6913	TBX15	HP:0000890	Long clavicles
6913	TBX15	HP:0003097	Short femur
6913	TBX15	HP:0045025	Narrow palpebral fissure
6913	TBX15	HP:0000946	Hypoplastic ilia
6913	TBX15	HP:0000294	Low anterior hairline
6913	TBX15	HP:0001591	Bell-shaped thorax
6913	TBX15	HP:0000256	Macrocephaly
6913	TBX15	HP:0000238	Hydrocephalus
6913	TBX15	HP:0002866	Hypoplastic iliac wing
6913	TBX15	HP:0012385	Camptodactyly
6913	TBX15	HP:0000377	Abnormal pinna morphology
6913	TBX15	HP:0000365	Hearing impairment
6913	TBX15	HP:0000358	Posteriorly rotated ears
6913	TBX15	HP:0000369	Low-set ears
6913	TBX15	HP:0000347	Micrognathia
6913	TBX15	HP:0000316	Hypertelorism
6913	TBX15	HP:0002990	Fibular aplasia
6913	TBX15	HP:0002987	Elbow flexion contracture
6913	TBX15	HP:0000402	Stenosis of the external auditory canal
6913	TBX15	HP:0000486	Strabismus
6913	TBX15	HP:0000482	Microcornea
6913	TBX15	HP:0000490	Deeply set eye
6913	TBX15	HP:0000470	Short neck
6913	TBX15	HP:0001762	Talipes equinovarus
6913	TBX15	HP:0011266	Microtia, first degree
6913	TBX15	HP:0000581	Blepharophimosis
6913	TBX15	HP:0000568	Microphthalmia
6915	TBXA2R	HP:0000006	Autosomal dominant inheritance
6915	TBXA2R	HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation
6915	TBXA2R	HP:0011873	Abnormal platelet count
6915	TBXA2R	HP:0000978	Bruising susceptibility
6915	TBXA2R	HP:0031364	Ecchymosis
6915	TBXA2R	HP:0000421	Epistaxis
6916	TBXAS1	HP:0010978	Abnormality of immune system physiology
6916	TBXAS1	HP:0000007	Autosomal recessive inheritance
6916	TBXAS1	HP:0002644	Abnormal pelvic girdle bone morphology
6916	TBXAS1	HP:0005019	Diaphyseal thickening
6916	TBXAS1	HP:0003312	Abnormal form of the vertebral bodies
6916	TBXAS1	HP:0002167	Abnormality of speech or vocalization
6916	TBXAS1	HP:0011974	Myelofibrosis
6916	TBXAS1	HP:0005528	Bone marrow hypocellularity
6916	TBXAS1	HP:0005505	Refractory anemia
6916	TBXAS1	HP:0001903	Anemia
6916	TBXAS1	HP:0003103	Abnormal cortical bone morphology
6916	TBXAS1	HP:0004493	Craniofacial hyperostosis
6916	TBXAS1	HP:0005890	Hyperostosis cranialis interna
6916	TBXAS1	HP:0100252	Diaphyseal dysplasia
6916	TBXAS1	HP:0000944	Abnormal metaphysis morphology
6916	TBXAS1	HP:0002823	Abnormality of femur morphology
6916	TBXAS1	HP:0006487	Bowing of the long bones
6916	TBXAS1	HP:0011001	Increased bone mineral density
6916	TBXAS1	HP:0002992	Abnormality of tibia morphology
6916	TBXAS1	HP:0001744	Splenomegaly
6916	TBXAS1	HP:0001882	Leukopenia
6916	TBXAS1	HP:0001873	Thrombocytopenia
6925	TCF4	HP:0001182	Tapered finger
6925	TCF4	HP:0002472	Small cerebral cortex
6925	TCF4	HP:0010864	Intellectual disability, severe
6925	TCF4	HP:0003700	Generalized amyotrophy
6925	TCF4	HP:0001298	Encephalopathy
6925	TCF4	HP:0001270	Motor delay
6925	TCF4	HP:0001250	Seizure
6925	TCF4	HP:0001252	Hypotonia
6925	TCF4	HP:0001251	Ataxia
6925	TCF4	HP:0001249	Intellectual disability
6925	TCF4	HP:0001263	Global developmental delay
6925	TCF4	HP:0002558	Supernumerary nipple
6925	TCF4	HP:0100869	Palmar telangiectasia
6925	TCF4	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
6925	TCF4	HP:0001212	Prominent fingertip pads
6925	TCF4	HP:0001217	Clubbing
6925	TCF4	HP:0000083	Renal insufficiency
6925	TCF4	HP:0001396	Cholestasis
6925	TCF4	HP:0001395	Hepatic fibrosis
6925	TCF4	HP:0001394	Cirrhosis
6925	TCF4	HP:0012038	Corneal guttata
6925	TCF4	HP:0012040	Corneal stromal edema
6925	TCF4	HP:0000054	Micropenis
6925	TCF4	HP:0025325	Sparse medial eyebrow
6925	TCF4	HP:0000028	Cryptorchidism
6925	TCF4	HP:0008897	Postnatal growth retardation
6925	TCF4	HP:0001328	Specific learning disability
6925	TCF4	HP:0001344	Absent speech
6925	TCF4	HP:0000006	Autosomal dominant inheritance
6925	TCF4	HP:0002650	Scoliosis
6925	TCF4	HP:0002608	Celiac disease
6925	TCF4	HP:0012189	Hodgkin lymphoma
6925	TCF4	HP:0000194	Open mouth
6925	TCF4	HP:0000174	Abnormal palate morphology
6925	TCF4	HP:0000154	Wide mouth
6925	TCF4	HP:0012115	Hepatitis
6925	TCF4	HP:0006352	Failure of eruption of permanent teeth
6925	TCF4	HP:0007663	Reduced visual acuity
6925	TCF4	HP:0002793	Abnormal pattern of respiration
6925	TCF4	HP:0001433	Hepatosplenomegaly
6925	TCF4	HP:0001409	Portal hypertension
6925	TCF4	HP:0001402	Hepatocellular carcinoma
6925	TCF4	HP:0002020	Gastroesophageal reflux
6925	TCF4	HP:0002019	Constipation
6925	TCF4	HP:0002036	Hiatus hernia
6925	TCF4	HP:0002027	Abdominal pain
6925	TCF4	HP:0004689	Short fourth metatarsal
6925	TCF4	HP:0002002	Deep philtrum
6925	TCF4	HP:0002066	Gait ataxia
6925	TCF4	HP:0002079	Hypoplasia of the corpus callosum
6925	TCF4	HP:0100512	Low levels of vitamin D
6925	TCF4	HP:0100513	Low levels of vitamin E
6925	TCF4	HP:0100575	Neoplasm of the gallbladder
6925	TCF4	HP:0040275	Adenocarcinoma of the large intestine
6925	TCF4	HP:0008151	Prolonged prothrombin time
6925	TCF4	HP:0002119	Ventriculomegaly
6925	TCF4	HP:0003459	Polyclonal elevation of IgM
6925	TCF4	HP:0011892	Low levels of vitamin K
6925	TCF4	HP:0010535	Sleep apnea
6925	TCF4	HP:0010529	Echolalia
6925	TCF4	HP:0011833	Overhanging nasal tip
6925	TCF4	HP:0004704	Short fifth metatarsal
6925	TCF4	HP:0002240	Hepatomegaly
6925	TCF4	HP:0002236	Frontal upsweep of hair
6925	TCF4	HP:0003581	Adult onset
6925	TCF4	HP:0002251	Aganglionic megacolon
6925	TCF4	HP:0100716	Self-injurious behavior
6925	TCF4	HP:0004879	Intermittent hyperventilation
6925	TCF4	HP:0002202	Pleural effusion
6925	TCF4	HP:0100727	Histiocytosis
6925	TCF4	HP:0010638	Elevated alkaline phosphatase of hepatic origin
6925	TCF4	HP:0011968	Feeding difficulties
6925	TCF4	HP:0001053	Hypopigmented skin patches
6925	TCF4	HP:0002381	Aphasia
6925	TCF4	HP:0001063	Acrocyanosis
6925	TCF4	HP:0002360	Sleep disturbance
6925	TCF4	HP:0002342	Intellectual disability, moderate
6925	TCF4	HP:0100651	Type I diabetes mellitus
6925	TCF4	HP:0100646	Thyroiditis
6925	TCF4	HP:0100626	Chronic hepatic failure
6925	TCF4	HP:0001081	Cholelithiasis
6925	TCF4	HP:0100633	Esophagitis
6925	TCF4	HP:0200055	Small hand
6925	TCF4	HP:0010743	Short metatarsal
6925	TCF4	HP:0002300	Mutism
6925	TCF4	HP:0002311	Incoordination
6925	TCF4	HP:0003621	Juvenile onset
6925	TCF4	HP:0004905	Low levels of vitamin A
6925	TCF4	HP:0004279	Short palm
6925	TCF4	HP:0006887	Intellectual disability, progressive
6925	TCF4	HP:0001945	Fever
6925	TCF4	HP:0000692	Tooth malposition
6925	TCF4	HP:0000687	Widely spaced teeth
6925	TCF4	HP:0000662	Nyctalopia
6925	TCF4	HP:0011300	Broad fingertip
6925	TCF4	HP:0003073	Hypoalbuminemia
6925	TCF4	HP:0012700	Abnormal large intestine physiology
6925	TCF4	HP:0000716	Depression
6925	TCF4	HP:0000718	Aggressive behavior
6925	TCF4	HP:0000729	Autistic behavior
6925	TCF4	HP:0011488	Abnormal corneal endothelium morphology
6925	TCF4	HP:0011491	Reduced number of corneal endothelial cells
6925	TCF4	HP:0011490	Abnormal Descemet membrane morphology
6925	TCF4	HP:0011463	Childhood onset
6925	TCF4	HP:0034250	Fetal nuchal edema
6925	TCF4	HP:0040019	Finger clinodactyly
6925	TCF4	HP:0040082	Happy demeanor
6925	TCF4	HP:0030857	Eye movement-induced pain
6925	TCF4	HP:0100279	Ulcerative colitis
6925	TCF4	HP:0000989	Pruritus
6925	TCF4	HP:0000954	Single transverse palmar crease
6925	TCF4	HP:0000952	Jaundice
6925	TCF4	HP:0000969	Edema
6925	TCF4	HP:0000960	Sacral dimple
6925	TCF4	HP:0000939	Osteoporosis
6925	TCF4	HP:0000938	Osteopenia
6925	TCF4	HP:0008081	Pes valgus
6925	TCF4	HP:0000280	Coarse facial features
6925	TCF4	HP:0000293	Full cheeks
6925	TCF4	HP:0030084	Clinodactyly
6925	TCF4	HP:0000252	Microcephaly
6925	TCF4	HP:0002883	Hyperventilation
6925	TCF4	HP:0025517	Hypoplastic hippocampus
6925	TCF4	HP:0001541	Ascites
6925	TCF4	HP:0001508	Failure to thrive
6925	TCF4	HP:0001510	Growth delay
6925	TCF4	HP:0012378	Fatigue
6925	TCF4	HP:0011039	Abnormal helix morphology
6925	TCF4	HP:0000378	Cupped ear
6925	TCF4	HP:0000391	Thickened helices
6925	TCF4	HP:0011034	Amyloidosis
6925	TCF4	HP:0006554	Acute hepatic failure
6925	TCF4	HP:0002910	Elevated hepatic transaminase
6925	TCF4	HP:0000341	Narrow forehead
6925	TCF4	HP:0030153	Cholangiocarcinoma
6925	TCF4	HP:0000322	Short philtrum
6925	TCF4	HP:0002960	Autoimmunity
6925	TCF4	HP:0030168	Dilated superficial abdominal veins
6925	TCF4	HP:0001635	Congestive heart failure
6925	TCF4	HP:0007957	Corneal opacity
6925	TCF4	HP:0001733	Pancreatitis
6925	TCF4	HP:0000483	Astigmatism
6925	TCF4	HP:0000486	Strabismus
6925	TCF4	HP:0012471	Thick vermilion border
6925	TCF4	HP:0000490	Deeply set eye
6925	TCF4	HP:0001795	Hyperconvex nail
6925	TCF4	HP:0000463	Anteverted nares
6925	TCF4	HP:0001786	Narrow foot
6925	TCF4	HP:0000454	Flared nostrils
6925	TCF4	HP:0000470	Short neck
6925	TCF4	HP:0012440	Abnormal biliary tract morphology
6925	TCF4	HP:0001763	Pes planus
6925	TCF4	HP:0000451	Triangular nasal tip
6925	TCF4	HP:0001744	Splenomegaly
6925	TCF4	HP:0000431	Wide nasal bridge
6925	TCF4	HP:0000426	Prominent nasal bridge
6925	TCF4	HP:0005484	Secondary microcephaly
6925	TCF4	HP:0005429	Recurrent systemic pyogenic infections
6925	TCF4	HP:0001845	Overlapping toe
6925	TCF4	HP:0001824	Weight loss
6925	TCF4	HP:0000505	Visual impairment
6925	TCF4	HP:0000582	Upslanted palpebral fissure
6925	TCF4	HP:0000554	Uveitis
6925	TCF4	HP:0000572	Visual loss
6925	TCF4	HP:0012522	Spider hemangioma
6925	TCF4	HP:0001879	Abnormal eosinophil morphology
6925	TCF4	HP:0000545	Myopia
6926	TBX3	HP:0001167	Abnormal finger morphology
6926	TBX3	HP:0001162	Postaxial hand polydactyly
6926	TBX3	HP:0009882	Short distal phalanx of finger
6926	TBX3	HP:0025259	Stiff elbow
6926	TBX3	HP:0001231	Abnormal fingernail morphology
6926	TBX3	HP:0002557	Hypoplastic nipples
6926	TBX3	HP:0008736	Hypoplasia of penis
6926	TBX3	HP:0007397	Axillary apocrine gland hypoplasia
6926	TBX3	HP:0000089	Renal hypoplasia
6926	TBX3	HP:0000046	Small scrotum
6926	TBX3	HP:0000054	Micropenis
6926	TBX3	HP:0000049	Shawl scrotum
6926	TBX3	HP:0000023	Inguinal hernia
6926	TBX3	HP:0000028	Cryptorchidism
6926	TBX3	HP:0000006	Autosomal dominant inheritance
6926	TBX3	HP:0003982	Aplasia of the ulna
6926	TBX3	HP:0003977	Deformed radius
6926	TBX3	HP:0003974	Absent radius
6926	TBX3	HP:0000144	Decreased fertility
6926	TBX3	HP:0000130	Abnormality of the uterus
6926	TBX3	HP:0002025	Anal stenosis
6926	TBX3	HP:0002023	Anal atresia
6926	TBX3	HP:0002021	Pyloric stenosis
6926	TBX3	HP:0009460	Aplasia of the 3rd finger
6926	TBX3	HP:0011755	Ectopic posterior pituitary
6926	TBX3	HP:0005916	Abnormal metacarpal morphology
6926	TBX3	HP:0011917	Short 5th toe
6926	TBX3	HP:0100490	Camptodactyly of finger
6926	TBX3	HP:0003577	Congenital onset
6926	TBX3	HP:0002221	Absent axillary hair
6926	TBX3	HP:0002215	Sparse axillary hair
6926	TBX3	HP:0100783	Breast aplasia
6926	TBX3	HP:0010627	Anterior pituitary hypoplasia
6926	TBX3	HP:0009751	Aplasia of the pectoralis major muscle
6926	TBX3	HP:0004299	Hernia of the abdominal wall
6926	TBX3	HP:0010046	Aplasia of the 5th metacarpal
6926	TBX3	HP:0010040	Aplasia of the 3rd metacarpal
6926	TBX3	HP:0010043	Aplasia of the 4th metacarpal
6926	TBX3	HP:0000668	Hypodontia
6926	TBX3	HP:0004322	Short stature
6926	TBX3	HP:0004397	Ectopic anus
6926	TBX3	HP:0003063	Abnormality of the humerus
6926	TBX3	HP:0004370	Abnormality of temperature regulation
6926	TBX3	HP:0003022	Hypoplasia of the ulna
6926	TBX3	HP:0003019	Abnormality of the wrist
6926	TBX3	HP:0000768	Pectus carinatum
6926	TBX3	HP:0011462	Young adult onset
6926	TBX3	HP:0000912	Sprengel anomaly
6926	TBX3	HP:0003187	Breast hypoplasia
6926	TBX3	HP:0003186	Inverted nipples
6926	TBX3	HP:0005792	Short humerus
6926	TBX3	HP:0000882	Hypoplastic scapulae
6926	TBX3	HP:0000889	Abnormal clavicle morphology
6926	TBX3	HP:0000813	Bicornuate uterus
6926	TBX3	HP:0000823	Delayed puberty
6926	TBX3	HP:0009281	Aplasia of the 4th finger
6926	TBX3	HP:0000894	Short clavicles
6926	TBX3	HP:0009238	Aplasia of the 5th finger
6926	TBX3	HP:0009237	Short 5th finger
6926	TBX3	HP:0008093	Short 4th toe
6926	TBX3	HP:0011675	Arrhythmia
6926	TBX3	HP:0002818	Abnormal morphology of the radius
6926	TBX3	HP:0030011	Imperforate hymen
6926	TBX3	HP:0001513	Obesity
6926	TBX3	HP:0001607	Subglottic stenosis
6926	TBX3	HP:0001601	Laryngomalacia
6926	TBX3	HP:0006495	Aplasia/Hypoplasia of the ulna
6926	TBX3	HP:0002987	Elbow flexion contracture
6926	TBX3	HP:0002984	Hypoplasia of the radius
6926	TBX3	HP:0001629	Ventricular septal defect
6926	TBX3	HP:0004050	Absent hand
6926	TBX3	HP:0005338	Sparse lateral eyebrow
6926	TBX3	HP:0001800	Hypoplastic toenails
6927	HNF1A	HP:0003745	Sporadic
6927	HNF1A	HP:0001279	Syncope
6927	HNF1A	HP:0001254	Lethargy
6927	HNF1A	HP:0002594	Pancreatic hypoplasia
6927	HNF1A	HP:0002591	Polyphagia
6927	HNF1A	HP:0031084	Excessive insulin response to glucagon test
6927	HNF1A	HP:0012051	Reactive hypoglycemia
6927	HNF1A	HP:0000077	Abnormality of the kidney
6927	HNF1A	HP:0012028	Hepatocellular adenoma
6927	HNF1A	HP:0001325	Hypoglycemic coma
6927	HNF1A	HP:0000006	Autosomal dominant inheritance
6927	HNF1A	HP:0001319	Neonatal hypotonia
6927	HNF1A	HP:0000147	Polycystic ovaries
6927	HNF1A	HP:0410050	Decreased level of 1,5 anhydroglucitol in serum
6927	HNF1A	HP:0000119	Abnormality of the genitourinary system
6927	HNF1A	HP:0000112	Nephropathy
6927	HNF1A	HP:0000107	Renal cyst
6927	HNF1A	HP:0000103	Polyuria
6927	HNF1A	HP:0005978	Type II diabetes mellitus
6927	HNF1A	HP:0040299	Decreased circulating free fatty acid level
6927	HNF1A	HP:0002173	Hypoglycemic seizures
6927	HNF1A	HP:0008255	Transient neonatal diabetes mellitus
6927	HNF1A	HP:0003593	Infantile onset
6927	HNF1A	HP:0002240	Hepatomegaly
6927	HNF1A	HP:0003584	Late onset
6927	HNF1A	HP:0011968	Feeding difficulties
6927	HNF1A	HP:0001069	Episodic hyperhidrosis
6927	HNF1A	HP:0002329	Drowsiness
6927	HNF1A	HP:0100651	Type I diabetes mellitus
6927	HNF1A	HP:0009800	Maternal diabetes
6927	HNF1A	HP:0004924	Abnormal oral glucose tolerance
6927	HNF1A	HP:0007185	Loss of consciousness
6927	HNF1A	HP:0004904	Maturity-onset diabetes of the young
6927	HNF1A	HP:0005584	Renal cell carcinoma
6927	HNF1A	HP:0031819	Increased waist to hip ratio
6927	HNF1A	HP:0001962	Palpitations
6927	HNF1A	HP:0001959	Polydipsia
6927	HNF1A	HP:0001953	Diabetic ketoacidosis
6927	HNF1A	HP:0001952	Glucose intolerance
6927	HNF1A	HP:0001993	Ketoacidosis
6927	HNF1A	HP:0001985	Hypoketotic hypoglycemia
6927	HNF1A	HP:0001998	Neonatal hypoglycemia
6927	HNF1A	HP:0003076	Glycosuria
6927	HNF1A	HP:0003074	Hyperglycemia
6927	HNF1A	HP:0012734	Ketotic hypoglycemia
6927	HNF1A	HP:0000713	Agitation
6927	HNF1A	HP:0012759	Neurodevelopmental abnormality
6927	HNF1A	HP:0030796	Increased C-peptide level
6927	HNF1A	HP:0030794	Abnormal circulating C-peptide concentration
6927	HNF1A	HP:0003162	Fasting hypoglycemia
6927	HNF1A	HP:0000855	Insulin resistance
6927	HNF1A	HP:0000831	Insulin-resistant diabetes mellitus
6927	HNF1A	HP:0000842	Hyperinsulinemia
6927	HNF1A	HP:0000819	Diabetes mellitus
6927	HNF1A	HP:0000825	Hyperinsulinemic hypoglycemia
6927	HNF1A	HP:0040214	Abnormal circulating insulin concentration
6927	HNF1A	HP:0040217	Elevated hemoglobin A1c
6927	HNF1A	HP:0040216	Hypoinsulinemia
6927	HNF1A	HP:0000980	Pallor
6927	HNF1A	HP:0000956	Acanthosis nigricans
6927	HNF1A	HP:0030057	Autoimmune antibody positivity
6927	HNF1A	HP:0025502	Overweight
6927	HNF1A	HP:0001520	Large for gestational age
6927	HNF1A	HP:0001518	Small for gestational age
6927	HNF1A	HP:0001511	Intrauterine growth retardation
6927	HNF1A	HP:0001513	Obesity
6927	HNF1A	HP:0001649	Tachycardia
6927	HNF1A	HP:0002960	Autoimmunity
6927	HNF1A	HP:0001738	Exocrine pancreatic insufficiency
6927	HNF1A	HP:0000488	Retinopathy
6928	HNF1B	HP:0002463	Language impairment
6928	HNF1B	HP:0003774	Stage 5 chronic kidney disease
6928	HNF1B	HP:0003745	Sporadic
6928	HNF1B	HP:0100800	Aplasia/Hypoplasia of the pancreas
6928	HNF1B	HP:0100801	Pancreatic aplasia
6928	HNF1B	HP:0100820	Glomerulopathy
6928	HNF1B	HP:0001250	Seizure
6928	HNF1B	HP:0001249	Intellectual disability
6928	HNF1B	HP:0002594	Pancreatic hypoplasia
6928	HNF1B	HP:0001263	Global developmental delay
6928	HNF1B	HP:0008678	Renal hypoplasia/aplasia
6928	HNF1B	HP:0000089	Renal hypoplasia
6928	HNF1B	HP:0000083	Renal insufficiency
6928	HNF1B	HP:0000085	Horseshoe kidney
6928	HNF1B	HP:0000093	Proteinuria
6928	HNF1B	HP:0001397	Hepatic steatosis
6928	HNF1B	HP:0000077	Abnormality of the kidney
6928	HNF1B	HP:0000078	Abnormality of the genital system
6928	HNF1B	HP:0000074	Ureteropelvic junction obstruction
6928	HNF1B	HP:0000070	Ureterocele
6928	HNF1B	HP:0001369	Arthritis
6928	HNF1B	HP:0000047	Hypospadias
6928	HNF1B	HP:0000049	Shawl scrotum
6928	HNF1B	HP:0000028	Cryptorchidism
6928	HNF1B	HP:0012092	Abnormality of exocrine pancreas physiology
6928	HNF1B	HP:0012093	Abnormality of endocrine pancreas physiology
6928	HNF1B	HP:0000013	Hypoplasia of the uterus
6928	HNF1B	HP:0000003	Multicystic kidney dysplasia
6928	HNF1B	HP:0000006	Autosomal dominant inheritance
6928	HNF1B	HP:0012157	Subcortical cerebral atrophy
6928	HNF1B	HP:0000122	Unilateral renal agenesis
6928	HNF1B	HP:0000107	Renal cyst
6928	HNF1B	HP:0000104	Renal agenesis
6928	HNF1B	HP:0002021	Pyloric stenosis
6928	HNF1B	HP:0030997	Atretic vas deferens
6928	HNF1B	HP:0005978	Type II diabetes mellitus
6928	HNF1B	HP:0002059	Cerebral atrophy
6928	HNF1B	HP:0040270	Impaired glucose tolerance
6928	HNF1B	HP:0002150	Hypercalciuria
6928	HNF1B	HP:0002149	Hyperuricemia
6928	HNF1B	HP:0002120	Cerebral cortical atrophy
6928	HNF1B	HP:0003584	Late onset
6928	HNF1B	HP:0009715	Papillary cystadenoma of the epididymis
6928	HNF1B	HP:0008341	Distal renal tubular acidosis
6928	HNF1B	HP:0011968	Feeding difficulties
6928	HNF1B	HP:0100611	Multiple glomerular cysts
6928	HNF1B	HP:0001080	Biliary tract abnormality
6928	HNF1B	HP:0004904	Maturity-onset diabetes of the young
6928	HNF1B	HP:0005584	Renal cell carcinoma
6928	HNF1B	HP:0005563	Decreased numbers of nephrons
6928	HNF1B	HP:0031819	Increased waist to hip ratio
6928	HNF1B	HP:0001959	Polydipsia
6928	HNF1B	HP:0001952	Glucose intolerance
6928	HNF1B	HP:0001919	Acute kidney injury
6928	HNF1B	HP:0001994	Renal Fanconi syndrome
6928	HNF1B	HP:0001997	Gout
6928	HNF1B	HP:0004322	Short stature
6928	HNF1B	HP:0003076	Glycosuria
6928	HNF1B	HP:0005692	Joint hyperflexibility
6928	HNF1B	HP:0004379	Abnormality of alkaline phosphatase level
6928	HNF1B	HP:0000717	Autism
6928	HNF1B	HP:0000790	Hematuria
6928	HNF1B	HP:0000787	Nephrolithiasis
6928	HNF1B	HP:0000855	Insulin resistance
6928	HNF1B	HP:0000819	Diabetes mellitus
6928	HNF1B	HP:0000813	Bicornuate uterus
6928	HNF1B	HP:0000821	Hypothyroidism
6928	HNF1B	HP:0012873	Absent vas deferens
6928	HNF1B	HP:0003259	Elevated circulating creatinine concentration
6928	HNF1B	HP:0000952	Jaundice
6928	HNF1B	HP:0000239	Large fontanelles
6928	HNF1B	HP:0012207	Reduced sperm motility
6928	HNF1B	HP:0012210	Abnormal renal morphology
6928	HNF1B	HP:0001562	Oligohydramnios
6928	HNF1B	HP:0001528	Hemihypertrophy
6928	HNF1B	HP:0001513	Obesity
6928	HNF1B	HP:0002910	Elevated hepatic transaminase
6928	HNF1B	HP:0000365	Hearing impairment
6928	HNF1B	HP:0000303	Mandibular prognathia
6928	HNF1B	HP:0001738	Exocrine pancreatic insufficiency
6928	HNF1B	HP:0030424	Epididymal cyst
6929	TCF3	HP:0008572	External ear malformation
6929	TCF3	HP:0100806	Sepsis
6929	TCF3	HP:0001287	Meningitis
6929	TCF3	HP:0410297	Partial absence of specific antibody response to tetanus vaccine
6929	TCF3	HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells
6929	TCF3	HP:0010976	B lymphocytopenia
6929	TCF3	HP:0001369	Arthritis
6929	TCF3	HP:0000007	Autosomal recessive inheritance
6929	TCF3	HP:0000006	Autosomal dominant inheritance
6929	TCF3	HP:0012115	Hepatitis
6929	TCF3	HP:0002754	Osteomyelitis
6929	TCF3	HP:0002719	Recurrent infections
6929	TCF3	HP:0002720	Decreased circulating IgA level
6929	TCF3	HP:0002721	Immunodeficiency
6929	TCF3	HP:0002024	Malabsorption
6929	TCF3	HP:0002028	Chronic diarrhea
6929	TCF3	HP:0002014	Diarrhea
6929	TCF3	HP:0002110	Bronchiectasis
6929	TCF3	HP:0003593	Infantile onset
6929	TCF3	HP:0002205	Recurrent respiratory infections
6929	TCF3	HP:0020090	Post-vaccination polio
6929	TCF3	HP:0004812	B Acute Lymphoblastic Leukemia
6929	TCF3	HP:0100658	Cellulitis
6929	TCF3	HP:0010803	Everted upper lip vermilion
6929	TCF3	HP:0200043	Verrucae
6929	TCF3	HP:0001944	Dehydration
6929	TCF3	HP:0001945	Fever
6929	TCF3	HP:0001903	Anemia
6929	TCF3	HP:0004315	Decreased circulating IgG level
6929	TCF3	HP:0012735	Cough
6929	TCF3	HP:0011463	Childhood onset
6929	TCF3	HP:0004432	Agammaglobulinemia
6929	TCF3	HP:0000988	Skin rash
6929	TCF3	HP:0000286	Epicanthus
6929	TCF3	HP:0001581	Recurrent skin infections
6929	TCF3	HP:0000246	Sinusitis
6929	TCF3	HP:0000218	High palate
6929	TCF3	HP:0001508	Failure to thrive
6929	TCF3	HP:0002850	Decreased circulating total IgM
6929	TCF3	HP:0012378	Fatigue
6929	TCF3	HP:0000396	Overfolded helix
6929	TCF3	HP:0000389	Chronic otitis media
6929	TCF3	HP:0006532	Recurrent pneumonia
6929	TCF3	HP:0000316	Hypertelorism
6929	TCF3	HP:0000322	Short philtrum
6929	TCF3	HP:0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells
6929	TCF3	HP:0000403	Recurrent otitis media
6929	TCF3	HP:0005280	Depressed nasal bridge
6929	TCF3	HP:0001744	Splenomegaly
6929	TCF3	HP:0005479	Decreased circulating IgE
6929	TCF3	HP:0000509	Conjunctivitis
6929	TCF3	HP:0011240	Prominent stem of antihelix
6929	TCF3	HP:0001876	Pancytopenia
6929	TCF3	HP:0001875	Neutropenia
6934	TCF7L2	HP:0000006	Autosomal dominant inheritance
6934	TCF7L2	HP:0005978	Type II diabetes mellitus
6934	TCF7L2	HP:0003584	Late onset
6934	TCF7L2	HP:0031819	Increased waist to hip ratio
6934	TCF7L2	HP:0000855	Insulin resistance
6935	ZEB1	HP:0001131	Corneal dystrophy
6935	ZEB1	HP:0009918	Ectopia pupillae
6935	ZEB1	HP:0025358	Uveal ectropion
6935	ZEB1	HP:0012038	Corneal guttata
6935	ZEB1	HP:0012040	Corneal stromal edema
6935	ZEB1	HP:0000023	Inguinal hernia
6935	ZEB1	HP:0000006	Autosomal dominant inheritance
6935	ZEB1	HP:0007663	Reduced visual acuity
6935	ZEB1	HP:0200026	Ocular pain
6935	ZEB1	HP:0200065	Chorioretinal degeneration
6935	ZEB1	HP:0032122	Very low visual acuity
6935	ZEB1	HP:0100692	Increased corneal curvature
6935	ZEB1	HP:0000632	Lacrimation abnormality
6935	ZEB1	HP:0000646	Amblyopia
6935	ZEB1	HP:0000613	Photophobia
6935	ZEB1	HP:0000622	Blurred vision
6935	ZEB1	HP:0000662	Nyctalopia
6935	ZEB1	HP:0011488	Abnormal corneal endothelium morphology
6935	ZEB1	HP:0011491	Reduced number of corneal endothelial cells
6935	ZEB1	HP:0011490	Abnormal Descemet membrane morphology
6935	ZEB1	HP:0011483	Anterior synechiae of the anterior chamber
6935	ZEB1	HP:0030857	Eye movement-induced pain
6935	ZEB1	HP:0000969	Edema
6935	ZEB1	HP:0007957	Corneal opacity
6935	ZEB1	HP:0007906	Ocular hypertension
6935	ZEB1	HP:0000483	Astigmatism
6935	ZEB1	HP:0000491	Keratitis
6935	ZEB1	HP:0000501	Glaucoma
6935	ZEB1	HP:0000572	Visual loss
6935	ZEB1	HP:0000565	Esotropia
6938	TCF12	HP:0001156	Brachydactyly
6938	TCF12	HP:0009891	Underdeveloped supraorbital ridges
6938	TCF12	HP:0001249	Intellectual disability
6938	TCF12	HP:0002516	Increased intracranial pressure
6938	TCF12	HP:0000044	Hypogonadotropic hypogonadism
6938	TCF12	HP:0000054	Micropenis
6938	TCF12	HP:0001382	Joint hypermobility
6938	TCF12	HP:0000047	Hypospadias
6938	TCF12	HP:0000028	Cryptorchidism
6938	TCF12	HP:0001338	Partial agenesis of the corpus callosum
6938	TCF12	HP:0000006	Autosomal dominant inheritance
6938	TCF12	HP:0002650	Scoliosis
6938	TCF12	HP:0011800	Midface retrusion
6938	TCF12	HP:0010522	Dyslexia
6938	TCF12	HP:0003577	Congenital onset
6938	TCF12	HP:0009701	Metacarpal synostosis
6938	TCF12	HP:0000699	Diastema
6938	TCF12	HP:0011342	Mild global developmental delay
6938	TCF12	HP:0000691	Microdontia
6938	TCF12	HP:0011326	Anterior plagiocephaly
6938	TCF12	HP:0000689	Dental malocclusion
6938	TCF12	HP:0011318	Bicoronal synostosis
6938	TCF12	HP:0011317	Right unicoronal synostosis
6938	TCF12	HP:0011316	Left unicoronal synostosis
6938	TCF12	HP:0000739	Anxiety
6938	TCF12	HP:0000717	Autism
6938	TCF12	HP:0000729	Autistic behavior
6938	TCF12	HP:0004442	Sagittal craniosynostosis
6938	TCF12	HP:0000823	Delayed puberty
6938	TCF12	HP:0000954	Single transverse palmar crease
6938	TCF12	HP:0000939	Osteoporosis
6938	TCF12	HP:0000938	Osteopenia
6938	TCF12	HP:0000294	Low anterior hairline
6938	TCF12	HP:0002808	Kyphosis
6938	TCF12	HP:0000248	Brachycephaly
6938	TCF12	HP:0011069	Supernumerary tooth
6938	TCF12	HP:0011054	Agenesis of molar
6938	TCF12	HP:0000365	Hearing impairment
6938	TCF12	HP:0000337	Broad forehead
6938	TCF12	HP:0000316	Hypertelorism
6938	TCF12	HP:0000486	Strabismus
6938	TCF12	HP:0000458	Anosmia
6938	TCF12	HP:0000520	Proptosis
6938	TCF12	HP:0001822	Hallux valgus
6938	TCF12	HP:0000508	Ptosis
6942	TCF20	HP:0001182	Tapered finger
6942	TCF20	HP:0001270	Motor delay
6942	TCF20	HP:0001256	Intellectual disability, mild
6942	TCF20	HP:0001250	Seizure
6942	TCF20	HP:0001252	Hypotonia
6942	TCF20	HP:0001251	Ataxia
6942	TCF20	HP:0001263	Global developmental delay
6942	TCF20	HP:0001257	Spasticity
6942	TCF20	HP:0000098	Tall stature
6942	TCF20	HP:0001357	Plagiocephaly
6942	TCF20	HP:0000006	Autosomal dominant inheritance
6942	TCF20	HP:0002650	Scoliosis
6942	TCF20	HP:0000194	Open mouth
6942	TCF20	HP:0002714	Downturned corners of mouth
6942	TCF20	HP:0002019	Constipation
6942	TCF20	HP:0002007	Frontal bossing
6942	TCF20	HP:0011800	Midface retrusion
6942	TCF20	HP:0003593	Infantile onset
6942	TCF20	HP:0011968	Feeding difficulties
6942	TCF20	HP:0002360	Sleep disturbance
6942	TCF20	HP:0002370	Poor coordination
6942	TCF20	HP:0010804	Tented upper lip vermilion
6942	TCF20	HP:0004209	Clinodactyly of the 5th finger
6942	TCF20	HP:0005616	Accelerated skeletal maturation
6942	TCF20	HP:0031936	Delayed ability to walk
6942	TCF20	HP:0000752	Hyperactivity
6942	TCF20	HP:0000771	Gynecomastia
6942	TCF20	HP:0000739	Anxiety
6942	TCF20	HP:0000750	Delayed speech and language development
6942	TCF20	HP:0000718	Aggressive behavior
6942	TCF20	HP:0000729	Autistic behavior
6942	TCF20	HP:0003196	Short nose
6942	TCF20	HP:0003186	Inverted nipples
6942	TCF20	HP:0000286	Epicanthus
6942	TCF20	HP:0000256	Macrocephaly
6942	TCF20	HP:0000276	Long face
6942	TCF20	HP:0000248	Brachycephaly
6942	TCF20	HP:0000219	Thin upper lip vermilion
6942	TCF20	HP:0001513	Obesity
6942	TCF20	HP:0000358	Posteriorly rotated ears
6942	TCF20	HP:0000369	Low-set ears
6942	TCF20	HP:0000348	High forehead
6942	TCF20	HP:0005280	Depressed nasal bridge
6942	TCF20	HP:0000486	Strabismus
6942	TCF20	HP:0000490	Deeply set eye
6942	TCF20	HP:0000414	Bulbous nose
6942	TCF20	HP:0001852	Sandal gap
6942	TCF20	HP:0000545	Myopia
6945	MLX	HP:0001250	Seizure
6945	MLX	HP:0001369	Arthritis
6945	MLX	HP:0001324	Muscle weakness
6945	MLX	HP:0002637	Cerebral ischemia
6945	MLX	HP:0002633	Vasculitis
6945	MLX	HP:0002617	Vascular dilatation
6945	MLX	HP:0001482	Subcutaneous nodule
6945	MLX	HP:0002793	Abnormal pattern of respiration
6945	MLX	HP:0003326	Myalgia
6945	MLX	HP:0100533	Inflammatory abnormality of the eye
6945	MLX	HP:0100545	Arterial stenosis
6945	MLX	HP:0002092	Pulmonary arterial hypertension
6945	MLX	HP:0002076	Migraine
6945	MLX	HP:0002039	Anorexia
6945	MLX	HP:0100576	Amaurosis fugax
6945	MLX	HP:0002105	Hemoptysis
6945	MLX	HP:0002167	Abnormality of speech or vocalization
6945	MLX	HP:0100735	Hypertensive crisis
6945	MLX	HP:0100749	Chest pain
6945	MLX	HP:0100758	Gangrene
6945	MLX	HP:0200042	Skin ulcer
6945	MLX	HP:0004970	Ascending tubular aorta aneurysm
6945	MLX	HP:0001945	Fever
6945	MLX	HP:0001903	Anemia
6945	MLX	HP:0012649	Increased inflammatory response
6945	MLX	HP:0004306	Abnormal endocardium morphology
6945	MLX	HP:0004372	Reduced consciousness/confusion
6945	MLX	HP:0000822	Hypertension
6945	MLX	HP:0000975	Hyperhidrosis
6945	MLX	HP:0002829	Arthralgia
6945	MLX	HP:0012378	Fatigue
6945	MLX	HP:0005244	Gastrointestinal infarctions
6945	MLX	HP:0001646	Abnormal aortic valve morphology
6945	MLX	HP:0001658	Myocardial infarction
6945	MLX	HP:0001654	Abnormal heart valve morphology
6945	MLX	HP:0001639	Hypertrophic cardiomyopathy
6945	MLX	HP:0000488	Retinopathy
6945	MLX	HP:0001824	Weight loss
6948	TCN2	HP:0001254	Lethargy
6948	TCN2	HP:0001252	Hypotonia
6948	TCN2	HP:0001251	Ataxia
6948	TCN2	HP:0001249	Intellectual disability
6948	TCN2	HP:0001324	Muscle weakness
6948	TCN2	HP:0000007	Autosomal recessive inheritance
6948	TCN2	HP:0012133	Erythroid hypoplasia
6948	TCN2	HP:0000153	Abnormality of the mouth
6948	TCN2	HP:0012120	Methylmalonic aciduria
6948	TCN2	HP:0002720	Decreased circulating IgA level
6948	TCN2	HP:0002014	Diarrhea
6948	TCN2	HP:0002013	Vomiting
6948	TCN2	HP:0003593	Infantile onset
6948	TCN2	HP:0002240	Hepatomegaly
6948	TCN2	HP:0001980	Megaloblastic bone marrow
6948	TCN2	HP:0001972	Macrocytic anemia
6948	TCN2	HP:0001919	Acute kidney injury
6948	TCN2	HP:0004315	Decreased circulating IgG level
6948	TCN2	HP:0004313	Decreased circulating antibody level
6948	TCN2	HP:0000737	Irritability
6948	TCN2	HP:0040126	Abnormal vitamin B12 level
6948	TCN2	HP:0040087	Abnormal blood folate concentration
6948	TCN2	HP:0003220	Abnormality of chromosome stability
6948	TCN2	HP:0001508	Failure to thrive
6948	TCN2	HP:0002850	Decreased circulating total IgM
6948	TCN2	HP:0001888	Lymphopenia
6948	TCN2	HP:0001896	Reticulocytopenia
6948	TCN2	HP:0001873	Thrombocytopenia
6948	TCN2	HP:0001876	Pancytopenia
6948	TCN2	HP:0001875	Neutropenia
6949	TCOF1	HP:0008551	Microtia
6949	TCOF1	HP:0001249	Intellectual disability
6949	TCOF1	HP:0001263	Global developmental delay
6949	TCOF1	HP:0002575	Tracheoesophageal fistula
6949	TCOF1	HP:0008736	Hypoplasia of penis
6949	TCOF1	HP:0000046	Small scrotum
6949	TCOF1	HP:0000028	Cryptorchidism
6949	TCOF1	HP:0000006	Autosomal dominant inheritance
6949	TCOF1	HP:0002652	Skeletal dysplasia
6949	TCOF1	HP:0000185	Cleft soft palate
6949	TCOF1	HP:0000197	Abnormal parotid gland morphology
6949	TCOF1	HP:0000164	Abnormality of the dentition
6949	TCOF1	HP:0000160	Narrow mouth
6949	TCOF1	HP:0000162	Glossoptosis
6949	TCOF1	HP:0000175	Cleft palate
6949	TCOF1	HP:0000143	Rectovaginal fistula
6949	TCOF1	HP:0000154	Wide mouth
6949	TCOF1	HP:0007678	Lacrimal duct stenosis
6949	TCOF1	HP:0007633	Bilateral microphthalmos
6949	TCOF1	HP:0005990	Thyroid hypoplasia
6949	TCOF1	HP:0002007	Frontal bossing
6949	TCOF1	HP:0002006	Facial cleft
6949	TCOF1	HP:0011800	Midface retrusion
6949	TCOF1	HP:0002084	Encephalocele
6949	TCOF1	HP:0002093	Respiratory insufficiency
6949	TCOF1	HP:0009555	Hypoplasia of the pharynx
6949	TCOF1	HP:0009554	Preauricular hair displacement
6949	TCOF1	HP:0003577	Congenital onset
6949	TCOF1	HP:0010669	Hypoplasia of the zygomatic bone
6949	TCOF1	HP:0002381	Aphasia
6949	TCOF1	HP:0010807	Open bite
6949	TCOF1	HP:0009804	Tooth agenesis
6949	TCOF1	HP:0009795	Branchial fistula
6949	TCOF1	HP:0000636	Upper eyelid coloboma
6949	TCOF1	HP:0000643	Blepharospasm
6949	TCOF1	HP:0000612	Iris coloboma
6949	TCOF1	HP:0000625	Eyelid coloboma
6949	TCOF1	HP:0011386	Narrow internal auditory canal
6949	TCOF1	HP:0000682	Abnormal dental enamel morphology
6949	TCOF1	HP:0000652	Lower eyelid coloboma
6949	TCOF1	HP:0001999	Abnormal facial shape
6949	TCOF1	HP:0030680	Abnormality of cardiovascular system morphology
6949	TCOF1	HP:0004348	Abnormality of bone mineral density
6949	TCOF1	HP:0000778	Hypoplasia of the thymus
6949	TCOF1	HP:0005701	Multiple enchondromatosis
6949	TCOF1	HP:0000925	Abnormality of the vertebral column
6949	TCOF1	HP:0000834	Abnormality of the adrenal glands
6949	TCOF1	HP:0000278	Retrognathia
6949	TCOF1	HP:0000294	Low anterior hairline
6949	TCOF1	HP:0001595	Abnormal hair morphology
6949	TCOF1	HP:0000272	Malar flattening
6949	TCOF1	HP:0007776	Sparse lower eyelashes
6949	TCOF1	HP:0000248	Brachycephaly
6949	TCOF1	HP:0000218	High palate
6949	TCOF1	HP:0000204	Cleft upper lip
6949	TCOF1	HP:0001508	Failure to thrive
6949	TCOF1	HP:0000384	Preauricular skin tag
6949	TCOF1	HP:0006482	Abnormality of dental morphology
6949	TCOF1	HP:0000370	Abnormality of the middle ear
6949	TCOF1	HP:0000347	Micrognathia
6949	TCOF1	HP:0000316	Hypertelorism
6949	TCOF1	HP:0001643	Patent ductus arteriosus
6949	TCOF1	HP:0000327	Hypoplasia of the maxilla
6949	TCOF1	HP:0001627	Abnormal heart morphology
6949	TCOF1	HP:0000405	Conductive hearing impairment
6949	TCOF1	HP:0000486	Strabismus
6949	TCOF1	HP:0000494	Downslanted palpebral fissures
6949	TCOF1	HP:0000453	Choanal atresia
6949	TCOF1	HP:0000413	Atresia of the external auditory canal
6949	TCOF1	HP:0000431	Wide nasal bridge
6949	TCOF1	HP:0000518	Cataract
6949	TCOF1	HP:0000508	Ptosis
6949	TCOF1	HP:0000505	Visual impairment
6949	TCOF1	HP:0000561	Absent eyelashes
6949	TCOF1	HP:0011219	Short face
6949	TCOF1	HP:0000572	Visual loss
6949	TCOF1	HP:0000568	Microphthalmia
6997	TDGF1	HP:0002465	Poor speech
6997	TDGF1	HP:0002474	Expressive language delay
6997	TDGF1	HP:0002451	Limb dystonia
6997	TDGF1	HP:0007301	Oromotor apraxia
6997	TDGF1	HP:0009932	Single naris
6997	TDGF1	HP:0009914	Cyclopia
6997	TDGF1	HP:0002418	Abnormal midbrain morphology
6997	TDGF1	HP:0001290	Generalized hypotonia
6997	TDGF1	HP:0001274	Agenesis of corpus callosum
6997	TDGF1	HP:0001273	Abnormal corpus callosum morphology
6997	TDGF1	HP:0001254	Lethargy
6997	TDGF1	HP:0001250	Seizure
6997	TDGF1	HP:0001249	Intellectual disability
6997	TDGF1	HP:0001257	Spasticity
6997	TDGF1	HP:0008736	Hypoplasia of penis
6997	TDGF1	HP:0007375	Abnormal septum pellucidum morphology
6997	TDGF1	HP:0002540	Inability to walk
6997	TDGF1	HP:0000062	Ambiguous genitalia
6997	TDGF1	HP:0001371	Flexion contracture
6997	TDGF1	HP:0001355	Megalencephaly
6997	TDGF1	HP:0001360	Holoprosencephaly
6997	TDGF1	HP:0001328	Specific learning disability
6997	TDGF1	HP:0001344	Absent speech
6997	TDGF1	HP:0002650	Scoliosis
6997	TDGF1	HP:0000193	Bifid uvula
6997	TDGF1	HP:0000161	Median cleft lip
6997	TDGF1	HP:0000175	Cleft palate
6997	TDGF1	HP:0006315	Solitary median maxillary central incisor
6997	TDGF1	HP:0008947	Infantile muscular hypotonia
6997	TDGF1	HP:0012110	Hypoplasia of the pons
6997	TDGF1	HP:0000119	Abnormality of the genitourinary system
6997	TDGF1	HP:0002793	Abnormal pattern of respiration
6997	TDGF1	HP:0000104	Renal agenesis
6997	TDGF1	HP:0002020	Gastroesophageal reflux
6997	TDGF1	HP:0002019	Constipation
6997	TDGF1	HP:0002033	Poor suck
6997	TDGF1	HP:0002015	Dysphagia
6997	TDGF1	HP:0002013	Vomiting
6997	TDGF1	HP:0040327	Abnormal morphology of the olfactory bulb
6997	TDGF1	HP:0005968	Temperature instability
6997	TDGF1	HP:0002099	Asthma
6997	TDGF1	HP:0011787	Central hypothyroidism
6997	TDGF1	HP:0003468	Abnormal vertebral morphology
6997	TDGF1	HP:0003458	EMG: myopathic abnormalities
6997	TDGF1	HP:0002270	Abnormality of the autonomic nervous system
6997	TDGF1	HP:0100704	Cerebral visual impairment
6997	TDGF1	HP:0100710	Impulsivity
6997	TDGF1	HP:0002247	Duodenal atresia
6997	TDGF1	HP:0010654	Aplasia of the falx cerebri
6997	TDGF1	HP:0007018	Attention deficit hyperactivity disorder
6997	TDGF1	HP:0010644	Midnasal stenosis
6997	TDGF1	HP:0011968	Feeding difficulties
6997	TDGF1	HP:0011951	Aspiration pneumonia
6997	TDGF1	HP:0002363	Abnormal brainstem morphology
6997	TDGF1	HP:0001028	Hemangioma
6997	TDGF1	HP:0010804	Tented upper lip vermilion
6997	TDGF1	HP:0009800	Maternal diabetes
6997	TDGF1	HP:0031860	Abnormal heart rate variability
6997	TDGF1	HP:0000612	Iris coloboma
6997	TDGF1	HP:0000601	Hypotelorism
6997	TDGF1	HP:0009062	Infantile axial hypotonia
6997	TDGF1	HP:0012650	Perisylvian polymicrogyria
6997	TDGF1	HP:0004322	Short stature
6997	TDGF1	HP:0006979	Sleep-wake cycle disturbance
6997	TDGF1	HP:0030680	Abnormality of cardiovascular system morphology
6997	TDGF1	HP:0031913	Rhombencephalosynapsis
6997	TDGF1	HP:0000772	Abnormal rib morphology
6997	TDGF1	HP:0000737	Irritability
6997	TDGF1	HP:0000739	Anxiety
6997	TDGF1	HP:0000736	Short attention span
6997	TDGF1	HP:0012718	Morphological abnormality of the gastrointestinal tract
6997	TDGF1	HP:0000741	Apathy
6997	TDGF1	HP:0000716	Depression
6997	TDGF1	HP:0000708	Atypical behavior
6997	TDGF1	HP:0011471	Gastrostomy tube feeding in infancy
6997	TDGF1	HP:0011442	Abnormal central motor function
6997	TDGF1	HP:0003196	Short nose
6997	TDGF1	HP:0000924	Abnormality of the skeletal system
6997	TDGF1	HP:0004478	Ethmoidal encephalocele
6997	TDGF1	HP:0000873	Diabetes insipidus
6997	TDGF1	HP:0000871	Panhypopituitarism
6997	TDGF1	HP:0000863	Central diabetes insipidus
6997	TDGF1	HP:0000830	Anterior hypopituitarism
6997	TDGF1	HP:0012806	Proboscis
6997	TDGF1	HP:0000818	Abnormality of the endocrine system
6997	TDGF1	HP:0000826	Precocious puberty
6997	TDGF1	HP:0000821	Hypothyroidism
6997	TDGF1	HP:0000824	Decreased response to growth hormone stimulation test
6997	TDGF1	HP:0040064	Abnormality of limbs
6997	TDGF1	HP:0045005	Neural tube defect
6997	TDGF1	HP:0012285	Abnormal hypothalamus physiology
6997	TDGF1	HP:0000256	Macrocephaly
6997	TDGF1	HP:0002827	Hip dislocation
6997	TDGF1	HP:0000238	Hydrocephalus
6997	TDGF1	HP:0000252	Microcephaly
6997	TDGF1	HP:0000218	High palate
6997	TDGF1	HP:0001545	Anteriorly placed anus
6997	TDGF1	HP:0002871	Central apnea
6997	TDGF1	HP:0000202	Orofacial cleft
6997	TDGF1	HP:0001508	Failure to thrive
6997	TDGF1	HP:0001511	Intrauterine growth retardation
6997	TDGF1	HP:0001510	Growth delay
6997	TDGF1	HP:0006528	Chronic lung disease
6997	TDGF1	HP:0001680	Coarctation of aorta
6997	TDGF1	HP:0000322	Short philtrum
6997	TDGF1	HP:0001627	Abnormal heart morphology
6997	TDGF1	HP:0001622	Premature birth
6997	TDGF1	HP:0001636	Tetralogy of Fallot
6997	TDGF1	HP:0000407	Sensorineural hearing impairment
6997	TDGF1	HP:0000486	Strabismus
6997	TDGF1	HP:0000478	Abnormality of the eye
6997	TDGF1	HP:0000463	Anteverted nares
6997	TDGF1	HP:0000457	Depressed nasal ridge
6997	TDGF1	HP:0000453	Choanal atresia
6997	TDGF1	HP:0000446	Narrow nasal bridge
6999	TDO2	HP:0001181	Adducted thumb
6999	TDO2	HP:0500134	Hypertryptophanemia
6999	TDO2	HP:0025268	Stuttering
6999	TDO2	HP:0001263	Global developmental delay
6999	TDO2	HP:0001377	Limited elbow extension
6999	TDO2	HP:0000007	Autosomal recessive inheritance
6999	TDO2	HP:0002761	Generalized joint laxity
6999	TDO2	HP:0003361	Tryptophanuria
6999	TDO2	HP:0100490	Camptodactyly of finger
6999	TDO2	HP:0002342	Intellectual disability, moderate
6999	TDO2	HP:0000716	Depression
6999	TDO2	HP:0000718	Aggressive behavior
6999	TDO2	HP:0000712	Emotional lability
6999	TDO2	HP:0000316	Hypertelorism
6999	TDO2	HP:0000407	Sensorineural hearing impairment
6999	TDO2	HP:0030214	Hypersexuality
6999	TDO2	HP:0000486	Strabismus
6999	TDO2	HP:0001763	Pes planus
6999	TDO2	HP:0000505	Visual impairment
6999	TDO2	HP:0000545	Myopia
7003	TEAD1	HP:0000006	Autosomal dominant inheritance
7003	TEAD1	HP:0003677	Slowly progressive
7003	TEAD1	HP:0007950	Peripapillary chorioretinal atrophy
7003	TEAD1	HP:0000483	Astigmatism
7003	TEAD1	HP:0000545	Myopia
7007	TECTA	HP:0000007	Autosomal recessive inheritance
7007	TECTA	HP:0000006	Autosomal dominant inheritance
7007	TECTA	HP:0000407	Sensorineural hearing impairment
7010	TEK	HP:0002584	Intestinal bleeding
7010	TEK	HP:0002580	Volvulus
7010	TEK	HP:0002597	Abnormality of the vasculature
7010	TEK	HP:0012040	Corneal stromal edema
7010	TEK	HP:0000007	Autosomal recessive inheritance
7010	TEK	HP:0000006	Autosomal dominant inheritance
7010	TEK	HP:0002653	Bone pain
7010	TEK	HP:0001482	Subcutaneous nodule
7010	TEK	HP:0100761	Visceral angiomatosis
7010	TEK	HP:0001052	Nevus flammeus
7010	TEK	HP:0001048	Cavernous hemangioma
7010	TEK	HP:0001928	Abnormality of coagulation
7010	TEK	HP:0001935	Microcytic anemia
7010	TEK	HP:0003010	Prolonged bleeding time
7010	TEK	HP:0012721	Venous malformation
7010	TEK	HP:0100026	Arteriovenous malformation
7010	TEK	HP:0012796	Increased cup-to-disc ratio
7010	TEK	HP:0008007	Primary congenital glaucoma
7010	TEK	HP:0000988	Skin rash
7010	TEK	HP:0005244	Gastrointestinal infarctions
7010	TEK	HP:0007906	Ocular hypertension
7010	TEK	HP:0000485	Megalocornea
7010	TEK	HP:0000501	Glaucoma
7010	TEK	HP:0000572	Visual loss
7010	TEK	HP:0000541	Retinal detachment
7012	TERC	HP:0025175	Honeycomb lung
7012	TERC	HP:0025179	Ground-glass opacification
7012	TERC	HP:0010885	Avascular necrosis
7012	TERC	HP:0001251	Ataxia
7012	TERC	HP:0001263	Global developmental delay
7012	TERC	HP:0001231	Abnormal fingernail morphology
7012	TERC	HP:0002575	Tracheoesophageal fistula
7012	TERC	HP:0008661	Urethral stenosis
7012	TERC	HP:0002514	Cerebral calcification
7012	TERC	HP:0003829	Typified by incomplete penetrance
7012	TERC	HP:0001399	Hepatic failure
7012	TERC	HP:0001394	Cirrhosis
7012	TERC	HP:0000035	Abnormal testis morphology
7012	TERC	HP:0025390	Reticular pattern on pulmonary HRCT
7012	TERC	HP:0002664	Neoplasm
7012	TERC	HP:0001328	Specific learning disability
7012	TERC	HP:0000008	Abnormal morphology of female internal genitalia
7012	TERC	HP:0002665	Lymphoma
7012	TERC	HP:0000006	Autosomal dominant inheritance
7012	TERC	HP:0002639	Budd-Chiari syndrome
7012	TERC	HP:0002650	Scoliosis
7012	TERC	HP:0001321	Cerebellar hypoplasia
7012	TERC	HP:0002605	Hepatic necrosis
7012	TERC	HP:0000164	Abnormality of the dentition
7012	TERC	HP:0007588	Reticular hyperpigmentation
7012	TERC	HP:0002757	Recurrent fractures
7012	TERC	HP:0002745	Oral leukoplakia
7012	TERC	HP:0002719	Recurrent infections
7012	TERC	HP:0002024	Malabsorption
7012	TERC	HP:0002020	Gastroesophageal reflux
7012	TERC	HP:0002094	Dyspnea
7012	TERC	HP:0010444	Pulmonary insufficiency
7012	TERC	HP:0010450	Esophageal stenosis
7012	TERC	HP:0100585	Telangiectasia of the skin
7012	TERC	HP:0002110	Bronchiectasis
7012	TERC	HP:0002240	Hepatomegaly
7012	TERC	HP:0003581	Adult onset
7012	TERC	HP:0002216	Premature graying of hair
7012	TERC	HP:0002205	Recurrent respiratory infections
7012	TERC	HP:0002206	Pulmonary fibrosis
7012	TERC	HP:0008404	Nail dystrophy
7012	TERC	HP:0100759	Clubbing of fingers
7012	TERC	HP:0010624	Aplastic/hypoplastic toenail
7012	TERC	HP:0001053	Hypopigmented skin patches
7012	TERC	HP:0001034	Hypermelanotic macule
7012	TERC	HP:0200037	Skin vesicle
7012	TERC	HP:0100670	Coarse metaphyseal trabecularization
7012	TERC	HP:0100627	Displacement of the urethral meatus
7012	TERC	HP:0200042	Skin ulcer
7012	TERC	HP:0005528	Bone marrow hypocellularity
7012	TERC	HP:0005518	Increased mean corpuscular volume
7012	TERC	HP:0001928	Abnormality of coagulation
7012	TERC	HP:0000600	Abnormality of the pharynx
7012	TERC	HP:0001909	Leukemia
7012	TERC	HP:0001903	Anemia
7012	TERC	HP:0001915	Aplastic anemia
7012	TERC	HP:0011364	White hair
7012	TERC	HP:0000679	Taurodontia
7012	TERC	HP:0000670	Carious teeth
7012	TERC	HP:0000668	Hypodontia
7012	TERC	HP:0004322	Short stature
7012	TERC	HP:0004334	Dermal atrophy
7012	TERC	HP:0012735	Cough
7012	TERC	HP:0012732	Anorectal anomaly
7012	TERC	HP:0012733	Macule
7012	TERC	HP:0000704	Periodontitis
7012	TERC	HP:0000819	Diabetes mellitus
7012	TERC	HP:0030830	Crackles
7012	TERC	HP:0000975	Hyperhidrosis
7012	TERC	HP:0000982	Palmoplantar keratoderma
7012	TERC	HP:0000939	Osteoporosis
7012	TERC	HP:0008070	Sparse hair
7012	TERC	HP:0008065	Aplasia/Hypoplasia of the skin
7012	TERC	HP:0008066	Abnormal blistering of the skin
7012	TERC	HP:0001596	Alopecia
7012	TERC	HP:0030057	Autoimmune antibody positivity
7012	TERC	HP:0002875	Exertional dyspnea
7012	TERC	HP:0002894	Neoplasm of the pancreas
7012	TERC	HP:0000225	Gingival bleeding
7012	TERC	HP:0002863	Myelodysplasia
7012	TERC	HP:0031364	Ecchymosis
7012	TERC	HP:0001511	Intrauterine growth retardation
7012	TERC	HP:0006530	Abnormal pulmonary interstitial morphology
7012	TERC	HP:0006515	Interstitial pneumonitis
7012	TERC	HP:0006480	Premature loss of teeth
7012	TERC	HP:0000365	Hearing impairment
7012	TERC	HP:0012324	Myeloid leukemia
7012	TERC	HP:0000327	Hypoplasia of the maxilla
7012	TERC	HP:0000499	Abnormal eyelash morphology
7012	TERC	HP:0000498	Blepharitis
7012	TERC	HP:0005374	Cellular immunodeficiency
7012	TERC	HP:0001744	Splenomegaly
7012	TERC	HP:0000421	Epistaxis
7012	TERC	HP:0006739	Squamous cell carcinoma of the skin
7012	TERC	HP:0000518	Cataract
7012	TERC	HP:0001807	Ridged nail
7012	TERC	HP:0001803	Nail pits
7012	TERC	HP:0001888	Lymphopenia
7012	TERC	HP:0000573	Retinal hemorrhage
7012	TERC	HP:0001896	Reticulocytopenia
7012	TERC	HP:0000534	Abnormal eyebrow morphology
7012	TERC	HP:0001882	Leukopenia
7012	TERC	HP:0001874	Abnormality of neutrophils
7012	TERC	HP:0001873	Thrombocytopenia
7012	TERC	HP:0001876	Pancytopenia
7012	TERC	HP:0001875	Neutropenia
7015	TERT	HP:0025134	Increased serum estradiol
7015	TERT	HP:0025175	Honeycomb lung
7015	TERT	HP:0025179	Ground-glass opacification
7015	TERT	HP:0010885	Avascular necrosis
7015	TERT	HP:0003743	Genetic anticipation
7015	TERT	HP:0003764	Nevus
7015	TERT	HP:0025269	Panic attack
7015	TERT	HP:0001276	Hypertonia
7015	TERT	HP:0001269	Hemiparesis
7015	TERT	HP:0001279	Syncope
7015	TERT	HP:0001250	Seizure
7015	TERT	HP:0001251	Ataxia
7015	TERT	HP:0001249	Intellectual disability
7015	TERT	HP:0001265	Hyporeflexia
7015	TERT	HP:0001263	Global developmental delay
7015	TERT	HP:0001262	Excessive daytime somnolence
7015	TERT	HP:0001231	Abnormal fingernail morphology
7015	TERT	HP:0002575	Tracheoesophageal fistula
7015	TERT	HP:0007440	Generalized hyperpigmentation
7015	TERT	HP:0007427	Reticulated skin pigmentation
7015	TERT	HP:0007392	Excessive wrinkled skin
7015	TERT	HP:0010997	Chromosomal breakage induced by ionizing radiation
7015	TERT	HP:0007359	Focal-onset seizure
7015	TERT	HP:0007340	Lower limb muscle weakness
7015	TERT	HP:0008661	Urethral stenosis
7015	TERT	HP:0002516	Increased intracranial pressure
7015	TERT	HP:0002514	Cerebral calcification
7015	TERT	HP:0002512	Brain stem compression
7015	TERT	HP:0003829	Typified by incomplete penetrance
7015	TERT	HP:0000080	Abnormality of reproductive system physiology
7015	TERT	HP:0025380	Increased circulating androstenedione concentration
7015	TERT	HP:0001399	Hepatic failure
7015	TERT	HP:0001395	Hepatic fibrosis
7015	TERT	HP:0001394	Cirrhosis
7015	TERT	HP:0000044	Hypogonadotropic hypogonadism
7015	TERT	HP:0012030	Increased urinary cortisol level
7015	TERT	HP:0000020	Urinary incontinence
7015	TERT	HP:0000035	Abnormal testis morphology
7015	TERT	HP:0025390	Reticular pattern on pulmonary HRCT
7015	TERT	HP:0002664	Neoplasm
7015	TERT	HP:0001328	Specific learning disability
7015	TERT	HP:0001324	Muscle weakness
7015	TERT	HP:0001342	Cerebral hemorrhage
7015	TERT	HP:0000008	Abnormal morphology of female internal genitalia
7015	TERT	HP:0000007	Autosomal recessive inheritance
7015	TERT	HP:0002665	Lymphoma
7015	TERT	HP:0000006	Autosomal dominant inheritance
7015	TERT	HP:0002639	Budd-Chiari syndrome
7015	TERT	HP:0002650	Scoliosis
7015	TERT	HP:0001321	Cerebellar hypoplasia
7015	TERT	HP:0001317	Abnormal cerebellum morphology
7015	TERT	HP:0002605	Hepatic necrosis
7015	TERT	HP:0000164	Abnormality of the dentition
7015	TERT	HP:0000141	Amenorrhea
7015	TERT	HP:0025436	Elevated serum 11-deoxycortisol
7015	TERT	HP:0001480	Freckling
7015	TERT	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
7015	TERT	HP:0007588	Reticular hyperpigmentation
7015	TERT	HP:0002757	Recurrent fractures
7015	TERT	HP:0001428	Somatic mutation
7015	TERT	HP:0002745	Oral leukoplakia
7015	TERT	HP:0002719	Recurrent infections
7015	TERT	HP:0002721	Immunodeficiency
7015	TERT	HP:0002024	Malabsorption
7015	TERT	HP:0002020	Gastroesophageal reflux
7015	TERT	HP:0002017	Nausea and vomiting
7015	TERT	HP:0002027	Abdominal pain
7015	TERT	HP:0002028	Chronic diarrhea
7015	TERT	HP:0100543	Cognitive impairment
7015	TERT	HP:0002094	Dyspnea
7015	TERT	HP:0002092	Pulmonary arterial hypertension
7015	TERT	HP:0002071	Abnormality of extrapyramidal motor function
7015	TERT	HP:0002043	Esophageal stricture
7015	TERT	HP:0010444	Pulmonary insufficiency
7015	TERT	HP:0010450	Esophageal stenosis
7015	TERT	HP:0011752	Neoplasm of the posterior pituitary
7015	TERT	HP:0011748	Adrenocorticotropic hormone deficiency
7015	TERT	HP:0011750	Neoplasm of the anterior pituitary
7015	TERT	HP:0011730	Abnormal central sensory function
7015	TERT	HP:0100585	Telangiectasia of the skin
7015	TERT	HP:0008163	Decreased circulating cortisol level
7015	TERT	HP:0003484	Upper limb muscle weakness
7015	TERT	HP:0002120	Cerebral cortical atrophy
7015	TERT	HP:0002119	Ventriculomegaly
7015	TERT	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
7015	TERT	HP:0002110	Bronchiectasis
7015	TERT	HP:0003418	Back pain
7015	TERT	HP:0002167	Abnormality of speech or vocalization
7015	TERT	HP:0002164	Nail dysplasia
7015	TERT	HP:0008240	Secondary growth hormone deficiency
7015	TERT	HP:0008245	Pituitary hypothyroidism
7015	TERT	HP:0008237	Hypothalamic hypothyroidism
7015	TERT	HP:0010534	Transient global amnesia
7015	TERT	HP:0008214	Decreased serum estradiol
7015	TERT	HP:0008202	Reduced circulating prolactin concentration
7015	TERT	HP:0003596	Middle age onset
7015	TERT	HP:0002240	Hepatomegaly
7015	TERT	HP:0003581	Adult onset
7015	TERT	HP:0002216	Premature graying of hair
7015	TERT	HP:0002211	White forelock
7015	TERT	HP:0002209	Sparse scalp hair
7015	TERT	HP:0002205	Recurrent respiratory infections
7015	TERT	HP:0002206	Pulmonary fibrosis
7015	TERT	HP:0100763	Abnormality of the lymphatic system
7015	TERT	HP:0008404	Nail dystrophy
7015	TERT	HP:0010702	Increased circulating antibody level
7015	TERT	HP:0100721	Mediastinal lymphadenopathy
7015	TERT	HP:0100759	Clubbing of fingers
7015	TERT	HP:0010628	Facial palsy
7015	TERT	HP:0010624	Aplastic/hypoplastic toenail
7015	TERT	HP:0004808	Acute myeloid leukemia
7015	TERT	HP:0001053	Hypopigmented skin patches
7015	TERT	HP:0001067	Neurofibromas
7015	TERT	HP:0001065	Striae distensae
7015	TERT	HP:0001034	Hypermelanotic macule
7015	TERT	HP:0002355	Difficulty walking
7015	TERT	HP:0002354	Memory impairment
7015	TERT	HP:0002315	Headache
7015	TERT	HP:0100648	Neoplasm of the tongue
7015	TERT	HP:0100661	Trigeminal neuralgia
7015	TERT	HP:0200037	Skin vesicle
7015	TERT	HP:0010828	Hemifacial spasm
7015	TERT	HP:0100670	Coarse metaphyseal trabecularization
7015	TERT	HP:0100627	Displacement of the urethral meatus
7015	TERT	HP:0200042	Skin ulcer
7015	TERT	HP:0001085	Papilledema
7015	TERT	HP:0003621	Juvenile onset
7015	TERT	HP:0005528	Bone marrow hypocellularity
7015	TERT	HP:0030521	Bitemporal hemianopia
7015	TERT	HP:0005518	Increased mean corpuscular volume
7015	TERT	HP:0006824	Cranial nerve paralysis
7015	TERT	HP:0030532	Visual acuity test abnormality
7015	TERT	HP:0001962	Palpitations
7015	TERT	HP:0000618	Blindness
7015	TERT	HP:0001928	Abnormality of coagulation
7015	TERT	HP:0001939	Abnormality of metabolism/homeostasis
7015	TERT	HP:0000602	Ophthalmoplegia
7015	TERT	HP:0000600	Abnormality of the pharynx
7015	TERT	HP:0001903	Anemia
7015	TERT	HP:0001915	Aplastic anemia
7015	TERT	HP:0011358	Generalized hypopigmentation of hair
7015	TERT	HP:0011364	White hair
7015	TERT	HP:0012691	Focal T2 hypointense thalamic lesion
7015	TERT	HP:0000679	Taurodontia
7015	TERT	HP:0012658	Abnormal brain FDG positron emission tomography
7015	TERT	HP:0000670	Carious teeth
7015	TERT	HP:0000668	Hypodontia
7015	TERT	HP:0004324	Increased body weight
7015	TERT	HP:0004322	Short stature
7015	TERT	HP:0004334	Dermal atrophy
7015	TERT	HP:0031950	Usual interstitial pneumonia
7015	TERT	HP:0004302	Functional motor deficit
7015	TERT	HP:0000802	Impotence
7015	TERT	HP:0100010	Spinal meningioma
7015	TERT	HP:0100013	Neoplasm of the breast
7015	TERT	HP:0100009	Intracranial meningioma
7015	TERT	HP:0012735	Cough
7015	TERT	HP:0012732	Anorectal anomaly
7015	TERT	HP:0012733	Macule
7015	TERT	HP:0000737	Irritability
7015	TERT	HP:0000739	Anxiety
7015	TERT	HP:0000712	Emotional lability
7015	TERT	HP:0000704	Periodontitis
7015	TERT	HP:0030591	Abnormal kinetic perimetry test
7015	TERT	HP:0011462	Young adult onset
7015	TERT	HP:0011442	Abnormal central motor function
7015	TERT	HP:0003110	Abnormality of urine homeostasis
7015	TERT	HP:0003118	Increased circulating cortisol level
7015	TERT	HP:0030766	Ear pain
7015	TERT	HP:0004408	Abnormality of the sense of smell
7015	TERT	HP:0000859	Hyperaldosteronism
7015	TERT	HP:0000870	Increased circulating prolactin concentration
7015	TERT	HP:0000819	Diabetes mellitus
7015	TERT	HP:0000822	Hypertension
7015	TERT	HP:0030878	Abnormality on pulmonary function testing
7015	TERT	HP:0045026	Abnormal mediastinum morphology
7015	TERT	HP:0045051	Decreased DLCO
7015	TERT	HP:0030830	Crackles
7015	TERT	HP:0000998	Hypertrichosis
7015	TERT	HP:0000975	Hyperhidrosis
7015	TERT	HP:0000972	Palmoplantar hyperkeratosis
7015	TERT	HP:0000982	Palmoplantar keratoderma
7015	TERT	HP:0000958	Dry skin
7015	TERT	HP:0000939	Osteoporosis
7015	TERT	HP:0000938	Osteopenia
7015	TERT	HP:0008070	Sparse hair
7015	TERT	HP:0040171	Decreased serum testosterone concentration
7015	TERT	HP:0008065	Aplasia/Hypoplasia of the skin
7015	TERT	HP:0008066	Abnormal blistering of the skin
7015	TERT	HP:0008069	Neoplasm of the skin
7015	TERT	HP:0007715	Weak extraocular muscles
7015	TERT	HP:0012285	Abnormal hypothalamus physiology
7015	TERT	HP:0001595	Abnormal hair morphology
7015	TERT	HP:0001596	Alopecia
7015	TERT	HP:0012246	Oculomotor nerve palsy
7015	TERT	HP:0031413	Short telomere length
7015	TERT	HP:0030057	Autoimmune antibody positivity
7015	TERT	HP:0030078	Lung adenocarcinoma
7015	TERT	HP:0012227	Urethral stricture
7015	TERT	HP:0000238	Hydrocephalus
7015	TERT	HP:0000252	Microcephaly
7015	TERT	HP:0002875	Exertional dyspnea
7015	TERT	HP:0002894	Neoplasm of the pancreas
7015	TERT	HP:0000225	Gingival bleeding
7015	TERT	HP:0002861	Melanoma
7015	TERT	HP:0002870	Obstructive sleep apnea
7015	TERT	HP:0002863	Myelodysplasia
7015	TERT	HP:0031364	Ecchymosis
7015	TERT	HP:0001508	Failure to thrive
7015	TERT	HP:0001511	Intrauterine growth retardation
7015	TERT	HP:0001513	Obesity
7015	TERT	HP:0006530	Abnormal pulmonary interstitial morphology
7015	TERT	HP:0006515	Interstitial pneumonitis
7015	TERT	HP:0006519	Alveolar cell carcinoma
7015	TERT	HP:0006520	Progressive pulmonary function impairment
7015	TERT	HP:0002920	Decreased circulating ACTH level
7015	TERT	HP:0002900	Hypokalemia
7015	TERT	HP:0006480	Premature loss of teeth
7015	TERT	HP:0000365	Hearing impairment
7015	TERT	HP:0000360	Tinnitus
7015	TERT	HP:0012324	Myeloid leukemia
7015	TERT	HP:0001644	Dilated cardiomyopathy
7015	TERT	HP:0000327	Hypoplasia of the maxilla
7015	TERT	HP:0007924	Slow decrease in visual acuity
7015	TERT	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion
7015	TERT	HP:0000499	Abnormal eyelash morphology
7015	TERT	HP:0000498	Blepharitis
7015	TERT	HP:0005374	Cellular immunodeficiency
7015	TERT	HP:0011133	Increased sensitivity to ionizing radiation
7015	TERT	HP:0000488	Retinopathy
7015	TERT	HP:0001744	Splenomegaly
7015	TERT	HP:0000421	Epistaxis
7015	TERT	HP:0006753	Neoplasm of the stomach
7015	TERT	HP:0006739	Squamous cell carcinoma of the skin
7015	TERT	HP:0006744	Adrenocortical carcinoma
7015	TERT	HP:0012505	Enlarged pituitary gland
7015	TERT	HP:0000518	Cataract
7015	TERT	HP:0000520	Proptosis
7015	TERT	HP:0001824	Weight loss
7015	TERT	HP:0001807	Ridged nail
7015	TERT	HP:0001803	Nail pits
7015	TERT	HP:0030348	Increased circulating androgen concentration
7015	TERT	HP:0030344	Decreased circulating luteinizing hormone level
7015	TERT	HP:0030341	Decreased circulating follicle stimulating hormone concentration
7015	TERT	HP:0001888	Lymphopenia
7015	TERT	HP:0000573	Retinal hemorrhage
7015	TERT	HP:0001896	Reticulocytopenia
7015	TERT	HP:0000534	Abnormal eyebrow morphology
7015	TERT	HP:0001881	Abnormal leukocyte morphology
7015	TERT	HP:0001882	Leukopenia
7015	TERT	HP:0001874	Abnormality of neutrophils
7015	TERT	HP:0001873	Thrombocytopenia
7015	TERT	HP:0001876	Pancytopenia
7015	TERT	HP:0001875	Neutropenia
7018	TF	HP:0001392	Abnormality of the liver
7018	TF	HP:0001369	Arthritis
7018	TF	HP:0000007	Autosomal recessive inheritance
7018	TF	HP:0002719	Recurrent infections
7018	TF	HP:0001931	Hypochromic anemia
7018	TF	HP:0001903	Anemia
7018	TF	HP:0000821	Hypothyroidism
7018	TF	HP:0012239	Atransferrinemia
7018	TF	HP:0001626	Abnormality of the cardiovascular system
7018	TF	HP:0001635	Congestive heart failure
7018	TF	HP:0001732	Abnormality of the pancreas
7019	TFAM	HP:0001254	Lethargy
7019	TFAM	HP:0001396	Cholestasis
7019	TFAM	HP:0001399	Hepatic failure
7019	TFAM	HP:0001394	Cirrhosis
7019	TFAM	HP:0000007	Autosomal recessive inheritance
7019	TFAM	HP:0001414	Microvesicular hepatic steatosis
7019	TFAM	HP:0002098	Respiratory distress
7019	TFAM	HP:0003676	Progressive
7019	TFAM	HP:0003623	Neonatal onset
7019	TFAM	HP:0003607	4-hydroxyphenylacetic aciduria
7019	TFAM	HP:0001943	Hypoglycemia
7019	TFAM	HP:0003073	Hypoalbuminemia
7019	TFAM	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
7019	TFAM	HP:0003155	Elevated circulating alkaline phosphatase concentration
7019	TFAM	HP:0003161	4-Hydroxyphenylpyruvic aciduria
7019	TFAM	HP:0003235	Hypermethioninemia
7019	TFAM	HP:0003231	Hypertyrosinemia
7019	TFAM	HP:0003270	Abdominal distention
7019	TFAM	HP:0000952	Jaundice
7019	TFAM	HP:0001561	Polyhydramnios
7019	TFAM	HP:0001522	Death in infancy
7019	TFAM	HP:0001541	Ascites
7019	TFAM	HP:0001508	Failure to thrive
7019	TFAM	HP:0001511	Intrauterine growth retardation
7019	TFAM	HP:0002910	Elevated hepatic transaminase
7019	TFAM	HP:0002908	Conjugated hyperbilirubinemia
7019	TFAM	HP:0002904	Hyperbilirubinemia
7019	TFAM	HP:0001635	Congestive heart failure
7020	TFAP2A	HP:0001177	Preaxial hand polydactyly
7020	TFAP2A	HP:0008606	Supraauricular pit
7020	TFAP2A	HP:0008551	Microtia
7020	TFAP2A	HP:0008559	Hypoplastic superior helix
7020	TFAP2A	HP:0025247	Dermoid cyst
7020	TFAP2A	HP:0001256	Intellectual disability, mild
7020	TFAP2A	HP:0001250	Seizure
7020	TFAP2A	HP:0002558	Supernumerary nipple
7020	TFAP2A	HP:0000047	Hypospadias
7020	TFAP2A	HP:0000028	Cryptorchidism
7020	TFAP2A	HP:0008897	Postnatal growth retardation
7020	TFAP2A	HP:0000003	Multicystic kidney dysplasia
7020	TFAP2A	HP:0000006	Autosomal dominant inheritance
7020	TFAP2A	HP:0000196	Lower lip pit
7020	TFAP2A	HP:0000164	Abnormality of the dentition
7020	TFAP2A	HP:0000175	Cleft palate
7020	TFAP2A	HP:0000126	Hydronephrosis
7020	TFAP2A	HP:0000107	Renal cyst
7020	TFAP2A	HP:0000104	Renal agenesis
7020	TFAP2A	HP:0002021	Pyloric stenosis
7020	TFAP2A	HP:0002020	Gastroesophageal reflux
7020	TFAP2A	HP:0002002	Deep philtrum
7020	TFAP2A	HP:0003307	Hyperlordosis
7020	TFAP2A	HP:0004785	Malrotation of colon
7020	TFAP2A	HP:0009623	Proximal placement of thumb
7020	TFAP2A	HP:0002167	Abnormality of speech or vocalization
7020	TFAP2A	HP:0002162	Low posterior hairline
7020	TFAP2A	HP:0010566	Hamartoma
7020	TFAP2A	HP:0010517	Ectopic thymus tissue
7020	TFAP2A	HP:0002216	Premature graying of hair
7020	TFAP2A	HP:0002211	White forelock
7020	TFAP2A	HP:0100798	Fingernail dysplasia
7020	TFAP2A	HP:0010628	Facial palsy
7020	TFAP2A	HP:0001057	Aplasia cutis congenita
7020	TFAP2A	HP:0001028	Hemangioma
7020	TFAP2A	HP:0002335	Agenesis of cerebellar vermis
7020	TFAP2A	HP:0009804	Tooth agenesis
7020	TFAP2A	HP:0009794	Branchial anomaly
7020	TFAP2A	HP:0010751	Dimple chin
7020	TFAP2A	HP:0009778	Short thumb
7020	TFAP2A	HP:0004209	Clinodactyly of the 5th finger
7020	TFAP2A	HP:0000639	Nystagmus
7020	TFAP2A	HP:0000612	Iris coloboma
7020	TFAP2A	HP:0000691	Microdontia
7020	TFAP2A	HP:0011323	Cleft of chin
7020	TFAP2A	HP:0004322	Short stature
7020	TFAP2A	HP:0004334	Dermal atrophy
7020	TFAP2A	HP:0004467	Preauricular pit
7020	TFAP2A	HP:0004464	Postauricular pit
7020	TFAP2A	HP:0100335	Non-midline cleft lip
7020	TFAP2A	HP:0100268	Upper lip pit
7020	TFAP2A	HP:0000987	Atypical scarring of skin
7020	TFAP2A	HP:0000954	Single transverse palmar crease
7020	TFAP2A	HP:0008070	Sparse hair
7020	TFAP2A	HP:0000272	Malar flattening
7020	TFAP2A	HP:0000268	Dolichocephaly
7020	TFAP2A	HP:0002808	Kyphosis
7020	TFAP2A	HP:0000252	Microcephaly
7020	TFAP2A	HP:0000218	High palate
7020	TFAP2A	HP:0000232	Everted lower lip vermilion
7020	TFAP2A	HP:0000202	Orofacial cleft
7020	TFAP2A	HP:0000204	Cleft upper lip
7020	TFAP2A	HP:0001511	Intrauterine growth retardation
7020	TFAP2A	HP:0000377	Abnormal pinna morphology
7020	TFAP2A	HP:0000396	Overfolded helix
7020	TFAP2A	HP:0005217	Duplication of internal organs
7020	TFAP2A	HP:0001611	Hypernasal speech
7020	TFAP2A	HP:0000365	Hearing impairment
7020	TFAP2A	HP:0000358	Posteriorly rotated ears
7020	TFAP2A	HP:0000369	Low-set ears
7020	TFAP2A	HP:0000368	Low-set, posteriorly rotated ears
7020	TFAP2A	HP:0000350	Small forehead
7020	TFAP2A	HP:0000347	Micrognathia
7020	TFAP2A	HP:0000316	Hypertelorism
7020	TFAP2A	HP:0002987	Elbow flexion contracture
7020	TFAP2A	HP:0006610	Wide intermamillary distance
7020	TFAP2A	HP:0000407	Sensorineural hearing impairment
7020	TFAP2A	HP:0000405	Conductive hearing impairment
7020	TFAP2A	HP:0005280	Depressed nasal bridge
7020	TFAP2A	HP:0000486	Strabismus
7020	TFAP2A	HP:0000480	Retinal coloboma
7020	TFAP2A	HP:0000482	Microcornea
7020	TFAP2A	HP:0000455	Broad nasal tip
7020	TFAP2A	HP:0000470	Short neck
7020	TFAP2A	HP:0000420	Short nasal septum
7020	TFAP2A	HP:0000431	Wide nasal bridge
7020	TFAP2A	HP:0005473	Fusion of middle ear ossicles
7020	TFAP2A	HP:0000518	Cataract
7020	TFAP2A	HP:0000528	Anophthalmia
7020	TFAP2A	HP:0000506	Telecanthus
7020	TFAP2A	HP:0000508	Ptosis
7020	TFAP2A	HP:0001804	Hypoplastic fingernail
7020	TFAP2A	HP:0000582	Upslanted palpebral fissure
7020	TFAP2A	HP:0000579	Nasolacrimal duct obstruction
7020	TFAP2A	HP:0000589	Coloboma
7020	TFAP2A	HP:0000568	Microphthalmia
7020	TFAP2A	HP:0000545	Myopia
7021	TFAP2B	HP:0001161	Hand polydactyly
7021	TFAP2B	HP:0025234	Parasomnia
7021	TFAP2B	HP:0001256	Intellectual disability, mild
7021	TFAP2B	HP:0001263	Global developmental delay
7021	TFAP2B	HP:0002558	Supernumerary nipple
7021	TFAP2B	HP:0002553	Highly arched eyebrow
7021	TFAP2B	HP:0006159	Mesoaxial hand polydactyly
7021	TFAP2B	HP:0000006	Autosomal dominant inheritance
7021	TFAP2B	HP:0006335	Persistence of primary teeth
7021	TFAP2B	HP:0003577	Congenital onset
7021	TFAP2B	HP:0002360	Sleep disturbance
7021	TFAP2B	HP:0008498	No permanent dentition
7021	TFAP2B	HP:0004209	Clinodactyly of the 5th finger
7021	TFAP2B	HP:0004220	Short middle phalanx of the 5th finger
7021	TFAP2B	HP:0004218	Symphalangism of the 5th finger
7021	TFAP2B	HP:0010112	Mesoaxial foot polydactyly
7021	TFAP2B	HP:0009244	Distal/middle symphalangism of 5th finger
7021	TFAP2B	HP:0000272	Malar flattening
7021	TFAP2B	HP:0000269	Prominent occiput
7021	TFAP2B	HP:0000232	Everted lower lip vermilion
7021	TFAP2B	HP:0000207	Triangular mouth
7021	TFAP2B	HP:0000365	Hearing impairment
7021	TFAP2B	HP:0000369	Low-set ears
7021	TFAP2B	HP:0000337	Broad forehead
7021	TFAP2B	HP:0000316	Hypertelorism
7021	TFAP2B	HP:0001643	Patent ductus arteriosus
7021	TFAP2B	HP:0000322	Short philtrum
7021	TFAP2B	HP:0001629	Ventricular septal defect
7021	TFAP2B	HP:0005280	Depressed nasal bridge
7021	TFAP2B	HP:0000486	Strabismus
7021	TFAP2B	HP:0012471	Thick vermilion border
7021	TFAP2B	HP:0000494	Downslanted palpebral fissures
7021	TFAP2B	HP:0000455	Broad nasal tip
7021	TFAP2B	HP:0000457	Depressed nasal ridge
7021	TFAP2B	HP:0001770	Toe syndactyly
7021	TFAP2B	HP:0000411	Protruding ear
7021	TFAP2B	HP:0000508	Ptosis
7021	TFAP2B	HP:0000574	Thick eyebrow
7021	TFAP2B	HP:0000545	Myopia
7025	NR2F1	HP:0001182	Tapered finger
7025	NR2F1	HP:0025100	Abnormal hippocampus morphology
7025	NR2F1	HP:0001123	Visual field defect
7025	NR2F1	HP:0009909	Uplifted earlobe
7025	NR2F1	HP:0001250	Seizure
7025	NR2F1	HP:0001252	Hypotonia
7025	NR2F1	HP:0001249	Intellectual disability
7025	NR2F1	HP:0001263	Global developmental delay
7025	NR2F1	HP:0001257	Spasticity
7025	NR2F1	HP:0008762	Repetitive compulsive behavior
7025	NR2F1	HP:0001212	Prominent fingertip pads
7025	NR2F1	HP:0001344	Absent speech
7025	NR2F1	HP:0000006	Autosomal dominant inheritance
7025	NR2F1	HP:0000154	Wide mouth
7025	NR2F1	HP:0007663	Reduced visual acuity
7025	NR2F1	HP:0002750	Delayed skeletal maturation
7025	NR2F1	HP:0002079	Hypoplasia of the corpus callosum
7025	NR2F1	HP:0100704	Cerebral visual impairment
7025	NR2F1	HP:0002217	Slow-growing hair
7025	NR2F1	HP:0007018	Attention deficit hyperactivity disorder
7025	NR2F1	HP:0011968	Feeding difficulties
7025	NR2F1	HP:0000639	Nystagmus
7025	NR2F1	HP:0000646	Amblyopia
7025	NR2F1	HP:0000648	Optic atrophy
7025	NR2F1	HP:0000609	Optic nerve hypoplasia
7025	NR2F1	HP:0001999	Abnormal facial shape
7025	NR2F1	HP:0004322	Short stature
7025	NR2F1	HP:0000717	Autism
7025	NR2F1	HP:0000729	Autistic behavior
7025	NR2F1	HP:0000722	Compulsive behaviors
7025	NR2F1	HP:0003194	Short nasal bridge
7025	NR2F1	HP:0000286	Epicanthus
7025	NR2F1	HP:0000278	Retrognathia
7025	NR2F1	HP:0007766	Optic disc hypoplasia
7025	NR2F1	HP:0000218	High palate
7025	NR2F1	HP:0011039	Abnormal helix morphology
7025	NR2F1	HP:0000395	Prominent antihelix
7025	NR2F1	HP:0000365	Hearing impairment
7025	NR2F1	HP:0000307	Pointed chin
7025	NR2F1	HP:0000486	Strabismus
7025	NR2F1	HP:0000463	Anteverted nares
7025	NR2F1	HP:0012448	Delayed myelination
7025	NR2F1	HP:0000411	Protruding ear
7025	NR2F1	HP:0000426	Prominent nasal bridge
7025	NR2F1	HP:0011261	Darwin tubercle of helix
7025	NR2F1	HP:0000582	Upslanted palpebral fissure
7025	NR2F1	HP:0000577	Exotropia
7025	NR2F1	HP:0000563	Keratoconus
7025	NR2F1	HP:0000565	Esotropia
7025	NR2F1	HP:0000540	Hypermetropia
7025	NR2F1	HP:0000543	Optic disc pallor
7025	NR2F1	HP:0000545	Myopia
7026	NR2F2	HP:0000062	Ambiguous genitalia
7026	NR2F2	HP:0000006	Autosomal dominant inheritance
7026	NR2F2	HP:0100779	Urogenital sinus anomaly
7026	NR2F2	HP:0004383	Hypoplastic left heart
7026	NR2F2	HP:0009112	Aplasia of the left hemidiaphragm
7026	NR2F2	HP:0030088	Increased serum testosterone level
7026	NR2F2	HP:0001684	Secundum atrial septal defect
7026	NR2F2	HP:0001680	Coarctation of aorta
7026	NR2F2	HP:0001650	Aortic valve stenosis
7026	NR2F2	HP:0001629	Ventricular septal defect
7026	NR2F2	HP:0001636	Tetralogy of Fallot
7026	NR2F2	HP:0006695	Atrioventricular canal defect
7030	TFE3	HP:0001182	Tapered finger
7030	TFE3	HP:0010864	Intellectual disability, severe
7030	TFE3	HP:0001250	Seizure
7030	TFE3	HP:0001252	Hypotonia
7030	TFE3	HP:0001249	Intellectual disability
7030	TFE3	HP:0001263	Global developmental delay
7030	TFE3	HP:0001230	Broad metacarpals
7030	TFE3	HP:0001377	Limited elbow extension
7030	TFE3	HP:0001385	Hip dysplasia
7030	TFE3	HP:0012016	EEG with occipital focal spikes
7030	TFE3	HP:0012017	EEG with parietal focal spikes
7030	TFE3	HP:0012014	EEG with central focal spikes
7030	TFE3	HP:0031165	Multifocal seizures
7030	TFE3	HP:0001344	Absent speech
7030	TFE3	HP:0000194	Open mouth
7030	TFE3	HP:0000175	Cleft palate
7030	TFE3	HP:0410030	Cleft lip
7030	TFE3	HP:0500041	Myopic astigmatism
7030	TFE3	HP:0001428	Somatic mutation
7030	TFE3	HP:0001433	Hepatosplenomegaly
7030	TFE3	HP:0001417	X-linked inheritance
7030	TFE3	HP:0003307	Hyperlordosis
7030	TFE3	HP:0011803	Bifid nose
7030	TFE3	HP:0002240	Hepatomegaly
7030	TFE3	HP:0002360	Sleep disturbance
7030	TFE3	HP:0002376	Developmental regression
7030	TFE3	HP:0001010	Hypopigmentation of the skin
7030	TFE3	HP:0001081	Cholelithiasis
7030	TFE3	HP:0001082	Cholecystitis
7030	TFE3	HP:0005584	Renal cell carcinoma
7030	TFE3	HP:0000646	Amblyopia
7030	TFE3	HP:0001943	Hypoglycemia
7030	TFE3	HP:0000664	Synophrys
7030	TFE3	HP:0000736	Short attention span
7030	TFE3	HP:0000750	Delayed speech and language development
7030	TFE3	HP:0000718	Aggressive behavior
7030	TFE3	HP:0000729	Autistic behavior
7030	TFE3	HP:0000885	Broad ribs
7030	TFE3	HP:0000826	Precocious puberty
7030	TFE3	HP:0000956	Acanthosis nigricans
7030	TFE3	HP:0000286	Epicanthus
7030	TFE3	HP:0000280	Coarse facial features
7030	TFE3	HP:0000293	Full cheeks
7030	TFE3	HP:0000256	Macrocephaly
7030	TFE3	HP:0000272	Malar flattening
7030	TFE3	HP:0002827	Hip dislocation
7030	TFE3	HP:0006371	Broad long bone diaphyses
7030	TFE3	HP:0000232	Everted lower lip vermilion
7030	TFE3	HP:0002857	Genu valgum
7030	TFE3	HP:0001537	Umbilical hernia
7030	TFE3	HP:0001513	Obesity
7030	TFE3	HP:0000358	Posteriorly rotated ears
7030	TFE3	HP:0000316	Hypertelorism
7030	TFE3	HP:0000403	Recurrent otitis media
7030	TFE3	HP:0005280	Depressed nasal bridge
7030	TFE3	HP:0000486	Strabismus
7030	TFE3	HP:0012471	Thick vermilion border
7030	TFE3	HP:0000494	Downslanted palpebral fissures
7030	TFE3	HP:0012450	Chronic constipation
7030	TFE3	HP:0001763	Pes planus
7030	TFE3	HP:0001762	Talipes equinovarus
7030	TFE3	HP:0000508	Ptosis
7030	TFE3	HP:0000545	Myopia
7036	TFR2	HP:0001394	Cirrhosis
7036	TFR2	HP:0000044	Hypogonadotropic hypogonadism
7036	TFR2	HP:0001369	Arthritis
7036	TFR2	HP:0000007	Autosomal recessive inheritance
7036	TFR2	HP:0000141	Amenorrhea
7036	TFR2	HP:0003452	Increased serum iron
7036	TFR2	HP:0001903	Anemia
7036	TFR2	HP:0000802	Impotence
7036	TFR2	HP:0003281	Increased circulating ferritin concentration
7036	TFR2	HP:0000979	Purpura
7036	TFR2	HP:0000953	Hyperpigmentation of the skin
7036	TFR2	HP:0012378	Fatigue
7036	TFR2	HP:0002910	Elevated hepatic transaminase
7036	TFR2	HP:0001638	Cardiomyopathy
7036	TFR2	HP:0012463	Elevated transferrin saturation
7036	TFR2	HP:0001888	Lymphopenia
7036	TFR2	HP:0001875	Neutropenia
7037	TFRC	HP:0100806	Sepsis
7037	TFRC	HP:0001287	Meningitis
7037	TFRC	HP:0000007	Autosomal recessive inheritance
7037	TFRC	HP:0002721	Immunodeficiency
7037	TFRC	HP:0002028	Chronic diarrhea
7037	TFRC	HP:0004854	Intermittent thrombocytopenia
7037	TFRC	HP:0009098	Chronic oral candidiasis
7037	TFRC	HP:0001903	Anemia
7037	TFRC	HP:0004313	Decreased circulating antibody level
7037	TFRC	HP:0001508	Failure to thrive
7037	TFRC	HP:0005425	Recurrent sinopulmonary infections
7037	TFRC	HP:0000509	Conjunctivitis
7037	TFRC	HP:0001875	Neutropenia
7038	TG	HP:0001254	Lethargy
7038	TG	HP:0001252	Hypotonia
7038	TG	HP:0001249	Intellectual disability
7038	TG	HP:0001265	Hyporeflexia
7038	TG	HP:0008872	Feeding difficulties in infancy
7038	TG	HP:0008828	Delayed proximal femoral epiphyseal ossification
7038	TG	HP:0000007	Autosomal recessive inheritance
7038	TG	HP:0025483	Abnormal circulating thyroglobulin level
7038	TG	HP:0025482	Positive perchlorate discharge test
7038	TG	HP:0000158	Macroglossia
7038	TG	HP:0031219	Reduced radioactive iodine uptake
7038	TG	HP:0031220	Increased radioactive iodine uptake
7038	TG	HP:0002019	Constipation
7038	TG	HP:0002045	Hypothermia
7038	TG	HP:0005930	Abnormal epiphysis morphology
7038	TG	HP:0008223	Compensated hypothyroidism
7038	TG	HP:0008263	Thyroid defect in oxidation and organification of iodide
7038	TG	HP:0100646	Thyroiditis
7038	TG	HP:0011437	Maternal autoimmune disease
7038	TG	HP:0012758	Neurodevelopmental delay
7038	TG	HP:0004491	Large posterior fontanelle
7038	TG	HP:0000851	Congenital hypothyroidism
7038	TG	HP:0000853	Goiter
7038	TG	HP:0003265	Neonatal hyperbilirubinemia
7038	TG	HP:0000282	Facial edema
7038	TG	HP:0000270	Delayed cranial suture closure
7038	TG	HP:0002890	Thyroid carcinoma
7038	TG	HP:0001537	Umbilical hernia
7038	TG	HP:0031507	Decreased circulating T4 concentration
7038	TG	HP:0006579	Prolonged neonatal jaundice
7038	TG	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7038	TG	HP:0001662	Bradycardia
7038	TG	HP:0000407	Sensorineural hearing impairment
7038	TG	HP:0005280	Depressed nasal bridge
7038	TG	HP:0012559	Increased T3/T4 ratio
7039	TGFA	HP:0006342	Peg-shaped maxillary lateral incisors
7039	TGFA	HP:0006344	Abnormality of primary molar morphology
7039	TGFA	HP:0006336	Short dental root
7039	TGFA	HP:0006297	Enamel hypoplasia
7039	TGFA	HP:0006289	Agenesis of central incisor
7039	TGFA	HP:0000696	Delayed eruption of permanent teeth
7039	TGFA	HP:0000684	Delayed eruption of teeth
7039	TGFA	HP:0000679	Taurodontia
7039	TGFA	HP:0000677	Oligodontia
7039	TGFA	HP:0000691	Microdontia
7039	TGFA	HP:0000690	Agenesis of maxillary lateral incisor
7039	TGFA	HP:0000689	Dental malocclusion
7039	TGFA	HP:0000685	Hypoplasia of teeth
7039	TGFA	HP:0000687	Widely spaced teeth
7039	TGFA	HP:0000202	Orofacial cleft
7039	TGFA	HP:0011078	Abnormality of canine
7039	TGFA	HP:0011053	Agenesis of mandibular premolar
7039	TGFA	HP:0011051	Agenesis of premolar
7039	TGFA	HP:0011056	Agenesis of first permanent molar tooth
7039	TGFA	HP:0005216	Impaired mastication
7039	TGFA	HP:0006482	Abnormality of dental morphology
7039	TGFA	HP:0012472	Eclabion
7039	TGFA	HP:0011219	Short face
7040	TGFB1	HP:0410151	Eosinophilic infiltration of the esophagus
7040	TGFB1	HP:0032261	Nontuberculous mycobacterial pulmonary infection
7040	TGFB1	HP:0003758	Reduced subcutaneous adipose tissue
7040	TGFB1	HP:0001298	Encephalopathy
7040	TGFB1	HP:0001293	Cranial nerve compression
7040	TGFB1	HP:0001290	Generalized hypotonia
7040	TGFB1	HP:0001251	Ataxia
7040	TGFB1	HP:0002595	Ileus
7040	TGFB1	HP:0001263	Global developmental delay
7040	TGFB1	HP:0001257	Spasticity
7040	TGFB1	HP:0002570	Steatorrhea
7040	TGFB1	HP:0032359	Decreased forced expiratory flow 25-75%
7040	TGFB1	HP:0002521	Hypsarrhythmia
7040	TGFB1	HP:0002515	Waddling gait
7040	TGFB1	HP:0032341	Reduced forced vital capacity
7040	TGFB1	HP:0032342	Reduced forced expiratory volume in one second
7040	TGFB1	HP:0001392	Abnormality of the liver
7040	TGFB1	HP:0001394	Cirrhosis
7040	TGFB1	HP:0001376	Limitation of joint mobility
7040	TGFB1	HP:0000016	Urinary retention
7040	TGFB1	HP:0002694	Sclerosis of skull base
7040	TGFB1	HP:0007552	Abnormal subcutaneous fat tissue distribution
7040	TGFB1	HP:0008872	Feeding difficulties in infancy
7040	TGFB1	HP:0001324	Muscle weakness
7040	TGFB1	HP:0002673	Coxa valga
7040	TGFB1	HP:0000007	Autosomal recessive inheritance
7040	TGFB1	HP:0000006	Autosomal dominant inheritance
7040	TGFB1	HP:0002652	Skeletal dysplasia
7040	TGFB1	HP:0002653	Bone pain
7040	TGFB1	HP:0002650	Scoliosis
7040	TGFB1	HP:0002644	Abnormal pelvic girdle bone morphology
7040	TGFB1	HP:0002613	Biliary cirrhosis
7040	TGFB1	HP:0032458	Narrowing of medullary canal
7040	TGFB1	HP:0000135	Hypogonadism
7040	TGFB1	HP:0001433	Hepatosplenomegaly
7040	TGFB1	HP:0002726	Recurrent Staphylococcus aureus infections
7040	TGFB1	HP:0002724	Recurrent Aspergillus infections
7040	TGFB1	HP:0002024	Malabsorption
7040	TGFB1	HP:0002020	Gastroesophageal reflux
7040	TGFB1	HP:0002035	Rectal prolapse
7040	TGFB1	HP:0002014	Diarrhea
7040	TGFB1	HP:0002007	Frontal bossing
7040	TGFB1	HP:0003307	Hyperlordosis
7040	TGFB1	HP:0002099	Asthma
7040	TGFB1	HP:0002079	Hypoplasia of the corpus callosum
7040	TGFB1	HP:0002039	Anorexia
7040	TGFB1	HP:0002059	Cerebral atrophy
7040	TGFB1	HP:0003388	Easy fatigability
7040	TGFB1	HP:0100582	Nasal polyposis
7040	TGFB1	HP:0002150	Hypercalciuria
7040	TGFB1	HP:0002110	Bronchiectasis
7040	TGFB1	HP:0002107	Pneumothorax
7040	TGFB1	HP:0002105	Hemoptysis
7040	TGFB1	HP:0002188	Delayed CNS myelination
7040	TGFB1	HP:0002167	Abnormality of speech or vocalization
7040	TGFB1	HP:0033256	Pancolitis
7040	TGFB1	HP:0003593	Infantile onset
7040	TGFB1	HP:0002240	Hepatomegaly
7040	TGFB1	HP:0003565	Elevated erythrocyte sedimentation rate
7040	TGFB1	HP:0002205	Recurrent respiratory infections
7040	TGFB1	HP:0100774	Hyperostosis
7040	TGFB1	HP:0100759	Clubbing of fingers
7040	TGFB1	HP:0033351	Candida esophagitis
7040	TGFB1	HP:0010628	Facial palsy
7040	TGFB1	HP:0002384	Focal impaired awareness seizure
7040	TGFB1	HP:0002315	Headache
7040	TGFB1	HP:0025085	Bloody diarrhea
7040	TGFB1	HP:0009789	Perianal abscess
7040	TGFB1	HP:0032170	Severe varicella zoster infection
7040	TGFB1	HP:0009763	Limb pain
7040	TGFB1	HP:0003621	Juvenile onset
7040	TGFB1	HP:0005528	Bone marrow hypocellularity
7040	TGFB1	HP:0000651	Diplopia
7040	TGFB1	HP:0000648	Optic atrophy
7040	TGFB1	HP:0001974	Leukocytosis
7040	TGFB1	HP:0001944	Dehydration
7040	TGFB1	HP:0001931	Hypochromic anemia
7040	TGFB1	HP:0001903	Anemia
7040	TGFB1	HP:0000684	Delayed eruption of teeth
7040	TGFB1	HP:0000670	Carious teeth
7040	TGFB1	HP:0001999	Abnormal facial shape
7040	TGFB1	HP:0004326	Cachexia
7040	TGFB1	HP:0004396	Poor appetite
7040	TGFB1	HP:0003063	Abnormality of the humerus
7040	TGFB1	HP:0003034	Diaphyseal sclerosis
7040	TGFB1	HP:0000763	Sensory neuropathy
7040	TGFB1	HP:0000739	Anxiety
7040	TGFB1	HP:0000716	Depression
7040	TGFB1	HP:0011463	Childhood onset
7040	TGFB1	HP:0000787	Nephrolithiasis
7040	TGFB1	HP:0004401	Meconium ileus
7040	TGFB1	HP:0000929	Abnormal skull morphology
7040	TGFB1	HP:0000925	Abnormality of the vertebral column
7040	TGFB1	HP:0005791	Cortical thickening of long bone diaphyses
7040	TGFB1	HP:0000823	Delayed puberty
7040	TGFB1	HP:0040071	Abnormal morphology of ulna
7040	TGFB1	HP:0012873	Absent vas deferens
7040	TGFB1	HP:0003237	Increased circulating IgG level
7040	TGFB1	HP:0003212	Increased circulating IgE level
7040	TGFB1	HP:0003202	Skeletal muscle atrophy
7040	TGFB1	HP:0045082	Decreased body mass index
7040	TGFB1	HP:0003251	Male infertility
7040	TGFB1	HP:0100255	Metaphyseal dysplasia
7040	TGFB1	HP:0000939	Osteoporosis
7040	TGFB1	HP:0000938	Osteopenia
7040	TGFB1	HP:0000940	Abnormal diaphysis morphology
7040	TGFB1	HP:0012236	Elevated sweat chloride
7040	TGFB1	HP:0002818	Abnormal morphology of the radius
7040	TGFB1	HP:0002823	Abnormality of femur morphology
7040	TGFB1	HP:0002808	Kyphosis
7040	TGFB1	HP:0000246	Sinusitis
7040	TGFB1	HP:0002857	Genu valgum
7040	TGFB1	HP:0001533	Slender build
7040	TGFB1	HP:0001508	Failure to thrive
7040	TGFB1	HP:0002842	Recurrent Burkholderia cepacia infections
7040	TGFB1	HP:0006501	Aplasia/Hypoplasia of the radius
7040	TGFB1	HP:0007807	Optic nerve compression
7040	TGFB1	HP:0006538	Recurrent bronchopulmonary infections
7040	TGFB1	HP:0005218	Anoperineal fistula
7040	TGFB1	HP:0006528	Chronic lung disease
7040	TGFB1	HP:0006532	Recurrent pneumonia
7040	TGFB1	HP:0006536	Airway obstruction
7040	TGFB1	HP:0002910	Elevated hepatic transaminase
7040	TGFB1	HP:0000365	Hearing impairment
7040	TGFB1	HP:0011001	Increased bone mineral density
7040	TGFB1	HP:0032794	Myoclonic seizure
7040	TGFB1	HP:0001648	Cor pulmonale
7040	TGFB1	HP:0002992	Abnormality of tibia morphology
7040	TGFB1	HP:0001639	Hypertrophic cardiomyopathy
7040	TGFB1	HP:0000303	Mandibular prognathia
7040	TGFB1	HP:0005376	Recurrent Haemophilus influenzae infections
7040	TGFB1	HP:0001738	Exocrine pancreatic insufficiency
7040	TGFB1	HP:0001733	Pancreatitis
7040	TGFB1	HP:0011109	Chronic sinusitis
7040	TGFB1	HP:0030253	Defective T cell proliferation
7040	TGFB1	HP:0001763	Pes planus
7040	TGFB1	HP:0001744	Splenomegaly
7040	TGFB1	HP:0005419	Decreased T cell activation
7040	TGFB1	HP:0005464	Craniofacial osteosclerosis
7040	TGFB1	HP:0000520	Proptosis
7040	TGFB1	HP:0000501	Glaucoma
7040	TGFB1	HP:0001894	Thrombocytosis
7040	TGFB1	HP:0012544	Elevated circulating aldolase concentration
7040	TGFB1	HP:0001882	Leukopenia
7040	TGFB1	HP:0012514	Lower limb pain
7042	TGFB2	HP:0001166	Arachnodactyly
7042	TGFB2	HP:0410151	Eosinophilic infiltration of the esophagus
7042	TGFB2	HP:0001297	Stroke
7042	TGFB2	HP:0000098	Tall stature
7042	TGFB2	HP:0001388	Joint laxity
7042	TGFB2	HP:0002686	Prenatal maternal abnormality
7042	TGFB2	HP:0000023	Inguinal hernia
7042	TGFB2	HP:0000006	Autosomal dominant inheritance
7042	TGFB2	HP:0002650	Scoliosis
7042	TGFB2	HP:0002647	Aortic dissection
7042	TGFB2	HP:0002616	Aortic root aneurysm
7042	TGFB2	HP:0000193	Bifid uvula
7042	TGFB2	HP:0012163	Carotid artery dilatation
7042	TGFB2	HP:0002705	High, narrow palate
7042	TGFB2	HP:0003302	Spondylolisthesis
7042	TGFB2	HP:0002097	Emphysema
7042	TGFB2	HP:0002140	Ischemic stroke
7042	TGFB2	HP:0002138	Subarachnoid hemorrhage
7042	TGFB2	HP:0002107	Pneumothorax
7042	TGFB2	HP:0002105	Hemoptysis
7042	TGFB2	HP:0003549	Abnormality of connective tissue
7042	TGFB2	HP:0200146	Mucoid extracellular matrix accumulation
7042	TGFB2	HP:0100775	Dural ectasia
7042	TGFB2	HP:0100749	Chest pain
7042	TGFB2	HP:0001065	Striae distensae
7042	TGFB2	HP:0002326	Transient ischemic attack
7042	TGFB2	HP:0010809	Broad uvula
7042	TGFB2	HP:0001083	Ectopia lentis
7042	TGFB2	HP:0004959	Descending thoracic aorta aneurysm
7042	TGFB2	HP:0004970	Ascending tubular aorta aneurysm
7042	TGFB2	HP:0004933	Ascending aortic dissection
7042	TGFB2	HP:0004950	Peripheral arterial stenosis
7042	TGFB2	HP:0004944	Dilatation of the cerebral artery
7042	TGFB2	HP:0005692	Joint hyperflexibility
7042	TGFB2	HP:0000766	Abnormal sternum morphology
7042	TGFB2	HP:0012763	Paroxysmal dyspnea
7042	TGFB2	HP:0004419	Recurrent thrombophlebitis
7042	TGFB2	HP:0003179	Protrusio acetabuli
7042	TGFB2	HP:0000822	Hypertension
7042	TGFB2	HP:0000978	Bruising susceptibility
7042	TGFB2	HP:0000974	Hyperextensible skin
7042	TGFB2	HP:0000973	Cutis laxa
7042	TGFB2	HP:0000965	Cutis marmorata
7042	TGFB2	HP:0007720	Flat cornea
7042	TGFB2	HP:0000278	Retrognathia
7042	TGFB2	HP:0000268	Dolichocephaly
7042	TGFB2	HP:0005116	Arterial tortuosity
7042	TGFB2	HP:0005112	Abdominal aortic aneurysm
7042	TGFB2	HP:0000218	High palate
7042	TGFB2	HP:0002875	Exertional dyspnea
7042	TGFB2	HP:0005162	Abnormal left ventricular function
7042	TGFB2	HP:0001677	Coronary artery atherosclerosis
7042	TGFB2	HP:0001647	Bicuspid aortic valve
7042	TGFB2	HP:0000316	Hypertelorism
7042	TGFB2	HP:0001643	Patent ductus arteriosus
7042	TGFB2	HP:0001659	Aortic regurgitation
7042	TGFB2	HP:0001640	Cardiomegaly
7042	TGFB2	HP:0001634	Mitral valve prolapse
7042	TGFB2	HP:0012499	Descending aortic dissection
7042	TGFB2	HP:0006687	Aortic tortuosity
7042	TGFB2	HP:0000494	Downslanted palpebral fissures
7042	TGFB2	HP:0000490	Deeply set eye
7042	TGFB2	HP:0000473	Torticollis
7042	TGFB2	HP:0011106	Hypovolemia
7042	TGFB2	HP:0001763	Pes planus
7042	TGFB2	HP:0001762	Talipes equinovarus
7042	TGFB2	HP:0000525	Abnormality iris morphology
7042	TGFB2	HP:0000508	Ptosis
7042	TGFB2	HP:0012532	Chronic pain
7043	TGFB3	HP:0001166	Arachnodactyly
7043	TGFB3	HP:0410151	Eosinophilic infiltration of the esophagus
7043	TGFB3	HP:0003758	Reduced subcutaneous adipose tissue
7043	TGFB3	HP:0001297	Stroke
7043	TGFB3	HP:0001252	Hypotonia
7043	TGFB3	HP:0000098	Tall stature
7043	TGFB3	HP:0001382	Joint hypermobility
7043	TGFB3	HP:0002686	Prenatal maternal abnormality
7043	TGFB3	HP:0000023	Inguinal hernia
7043	TGFB3	HP:0000006	Autosomal dominant inheritance
7043	TGFB3	HP:0002650	Scoliosis
7043	TGFB3	HP:0002647	Aortic dissection
7043	TGFB3	HP:0001319	Neonatal hypotonia
7043	TGFB3	HP:0002616	Aortic root aneurysm
7043	TGFB3	HP:0000185	Cleft soft palate
7043	TGFB3	HP:0000193	Bifid uvula
7043	TGFB3	HP:0012163	Carotid artery dilatation
7043	TGFB3	HP:0000175	Cleft palate
7043	TGFB3	HP:0002705	High, narrow palate
7043	TGFB3	HP:0002758	Osteoarthritis
7043	TGFB3	HP:0002751	Kyphoscoliosis
7043	TGFB3	HP:0002036	Hiatus hernia
7043	TGFB3	HP:0003302	Spondylolisthesis
7043	TGFB3	HP:0011800	Midface retrusion
7043	TGFB3	HP:0002140	Ischemic stroke
7043	TGFB3	HP:0002138	Subarachnoid hemorrhage
7043	TGFB3	HP:0002107	Pneumothorax
7043	TGFB3	HP:0002105	Hemoptysis
7043	TGFB3	HP:0002194	Delayed gross motor development
7043	TGFB3	HP:0011833	Overhanging nasal tip
7043	TGFB3	HP:0003549	Abnormality of connective tissue
7043	TGFB3	HP:0200146	Mucoid extracellular matrix accumulation
7043	TGFB3	HP:0100775	Dural ectasia
7043	TGFB3	HP:0100749	Chest pain
7043	TGFB3	HP:0010665	Bilateral coxa valga
7043	TGFB3	HP:0010646	Cervical spine instability
7043	TGFB3	HP:0001052	Nevus flammeus
7043	TGFB3	HP:0003691	Scapular winging
7043	TGFB3	HP:0002326	Transient ischemic attack
7043	TGFB3	HP:0010804	Tented upper lip vermilion
7043	TGFB3	HP:0004959	Descending thoracic aorta aneurysm
7043	TGFB3	HP:0004933	Ascending aortic dissection
7043	TGFB3	HP:0003621	Juvenile onset
7043	TGFB3	HP:0004950	Peripheral arterial stenosis
7043	TGFB3	HP:0004944	Dilatation of the cerebral artery
7043	TGFB3	HP:0000637	Long palpebral fissure
7043	TGFB3	HP:0004322	Short stature
7043	TGFB3	HP:0004308	Ventricular arrhythmia
7043	TGFB3	HP:0000767	Pectus excavatum
7043	TGFB3	HP:0000766	Abnormal sternum morphology
7043	TGFB3	HP:0000768	Pectus carinatum
7043	TGFB3	HP:0012763	Paroxysmal dyspnea
7043	TGFB3	HP:0012771	Increased arm span
7043	TGFB3	HP:0003199	Decreased muscle mass
7043	TGFB3	HP:0000822	Hypertension
7043	TGFB3	HP:0005879	Congenital finger flexion contractures
7043	TGFB3	HP:0005830	Flexion contracture of toe
7043	TGFB3	HP:0000978	Bruising susceptibility
7043	TGFB3	HP:0000965	Cutis marmorata
7043	TGFB3	HP:0011663	Right ventricular cardiomyopathy
7043	TGFB3	HP:0000283	Broad face
7043	TGFB3	HP:0000278	Retrognathia
7043	TGFB3	HP:0000276	Long face
7043	TGFB3	HP:0000268	Dolichocephaly
7043	TGFB3	HP:0005112	Abdominal aortic aneurysm
7043	TGFB3	HP:0000248	Brachycephaly
7043	TGFB3	HP:0001548	Overgrowth
7043	TGFB3	HP:0000218	High palate
7043	TGFB3	HP:0002875	Exertional dyspnea
7043	TGFB3	HP:0001531	Failure to thrive in infancy
7043	TGFB3	HP:0001510	Growth delay
7043	TGFB3	HP:0000396	Overfolded helix
7043	TGFB3	HP:0005162	Abnormal left ventricular function
7043	TGFB3	HP:0001677	Coronary artery atherosclerosis
7043	TGFB3	HP:0000319	Smooth philtrum
7043	TGFB3	HP:0001647	Bicuspid aortic valve
7043	TGFB3	HP:0000316	Hypertelorism
7043	TGFB3	HP:0001643	Patent ductus arteriosus
7043	TGFB3	HP:0001645	Sudden cardiac death
7043	TGFB3	HP:0001659	Aortic regurgitation
7043	TGFB3	HP:0001653	Mitral regurgitation
7043	TGFB3	HP:0001655	Patent foramen ovale
7043	TGFB3	HP:0001629	Ventricular septal defect
7043	TGFB3	HP:0001640	Cardiomegaly
7043	TGFB3	HP:0001631	Atrial septal defect
7043	TGFB3	HP:0012499	Descending aortic dissection
7043	TGFB3	HP:0000494	Downslanted palpebral fissures
7043	TGFB3	HP:0011106	Hypovolemia
7043	TGFB3	HP:0001763	Pes planus
7043	TGFB3	HP:0001762	Talipes equinovarus
7043	TGFB3	HP:0000426	Prominent nasal bridge
7043	TGFB3	HP:0000525	Abnormality iris morphology
7043	TGFB3	HP:0000520	Proptosis
7043	TGFB3	HP:0000508	Ptosis
7043	TGFB3	HP:0000592	Blue sclerae
7045	TGFBI	HP:0001149	Lattice corneal dystrophy
7045	TGFBI	HP:0001131	Corneal dystrophy
7045	TGFBI	HP:0012040	Corneal stromal edema
7045	TGFBI	HP:0025337	Red eye
7045	TGFBI	HP:0000006	Autosomal dominant inheritance
7045	TGFBI	HP:0012155	Decreased corneal sensation
7045	TGFBI	HP:0007663	Reduced visual acuity
7045	TGFBI	HP:0100540	Palpebral edema
7045	TGFBI	HP:0003596	Middle age onset
7045	TGFBI	HP:0003593	Infantile onset
7045	TGFBI	HP:0200026	Ocular pain
7045	TGFBI	HP:0200020	Corneal erosion
7045	TGFBI	HP:0008511	Central posterior corneal opacity
7045	TGFBI	HP:0032148	Episodic pain
7045	TGFBI	HP:0003621	Juvenile onset
7045	TGFBI	HP:0000613	Photophobia
7045	TGFBI	HP:0000622	Blurred vision
7045	TGFBI	HP:0011493	Central opacification of the cornea
7045	TGFBI	HP:0011495	Abnormal corneal epithelium morphology
7045	TGFBI	HP:0011463	Childhood onset
7045	TGFBI	HP:0011462	Young adult onset
7045	TGFBI	HP:0008039	Subepithelial corneal opacities
7045	TGFBI	HP:0007759	Opacification of the corneal stroma
7045	TGFBI	HP:0007755	Juvenile epithelial corneal dystrophy
7045	TGFBI	HP:0007690	Map-dot-fingerprint corneal dystrophy
7045	TGFBI	HP:0007827	Nodular corneal dystrophy
7045	TGFBI	HP:0007802	Granular corneal dystrophy
7045	TGFBI	HP:0007809	Punctate corneal dystrophy
7045	TGFBI	HP:0007881	Central corneal dystrophy
7045	TGFBI	HP:0011003	High myopia
7045	TGFBI	HP:0007957	Corneal opacity
7045	TGFBI	HP:0007924	Slow decrease in visual acuity
7045	TGFBI	HP:0000483	Astigmatism
7045	TGFBI	HP:0000486	Strabismus
7045	TGFBI	HP:0000481	Abnormal cornea morphology
7045	TGFBI	HP:0000495	Recurrent corneal erosions
7045	TGFBI	HP:0000518	Cataract
7045	TGFBI	HP:0000529	Progressive visual loss
7045	TGFBI	HP:0000505	Visual impairment
7045	TGFBI	HP:0000559	Corneal scarring
7045	TGFBI	HP:0000572	Visual loss
7045	TGFBI	HP:0000531	Corneal crystals
7046	TGFBR1	HP:0001166	Arachnodactyly
7046	TGFBR1	HP:0001162	Postaxial hand polydactyly
7046	TGFBR1	HP:0410151	Eosinophilic infiltration of the esophagus
7046	TGFBR1	HP:0001297	Stroke
7046	TGFBR1	HP:0001249	Intellectual disability
7046	TGFBR1	HP:0001263	Global developmental delay
7046	TGFBR1	HP:0000098	Tall stature
7046	TGFBR1	HP:0001373	Joint dislocation
7046	TGFBR1	HP:0001388	Joint laxity
7046	TGFBR1	HP:0002686	Prenatal maternal abnormality
7046	TGFBR1	HP:0000023	Inguinal hernia
7046	TGFBR1	HP:0001363	Craniosynostosis
7046	TGFBR1	HP:0002664	Neoplasm
7046	TGFBR1	HP:0000006	Autosomal dominant inheritance
7046	TGFBR1	HP:0002650	Scoliosis
7046	TGFBR1	HP:0002647	Aortic dissection
7046	TGFBR1	HP:0002616	Aortic root aneurysm
7046	TGFBR1	HP:0002617	Vascular dilatation
7046	TGFBR1	HP:0000193	Bifid uvula
7046	TGFBR1	HP:0012163	Carotid artery dilatation
7046	TGFBR1	HP:0000175	Cleft palate
7046	TGFBR1	HP:0002705	High, narrow palate
7046	TGFBR1	HP:0002140	Ischemic stroke
7046	TGFBR1	HP:0002138	Subarachnoid hemorrhage
7046	TGFBR1	HP:0002107	Pneumothorax
7046	TGFBR1	HP:0002105	Hemoptysis
7046	TGFBR1	HP:0100490	Camptodactyly of finger
7046	TGFBR1	HP:0003581	Adult onset
7046	TGFBR1	HP:0100718	Uterine rupture
7046	TGFBR1	HP:0003549	Abnormality of connective tissue
7046	TGFBR1	HP:0200146	Mucoid extracellular matrix accumulation
7046	TGFBR1	HP:0100775	Dural ectasia
7046	TGFBR1	HP:0100749	Chest pain
7046	TGFBR1	HP:0010648	Dermal translucency
7046	TGFBR1	HP:0010646	Cervical spine instability
7046	TGFBR1	HP:0001065	Striae distensae
7046	TGFBR1	HP:0002326	Transient ischemic attack
7046	TGFBR1	HP:0001083	Ectopia lentis
7046	TGFBR1	HP:0004959	Descending thoracic aorta aneurysm
7046	TGFBR1	HP:0002308	Chiari malformation
7046	TGFBR1	HP:0004937	Pulmonary artery aneurysm
7046	TGFBR1	HP:0004933	Ascending aortic dissection
7046	TGFBR1	HP:0003621	Juvenile onset
7046	TGFBR1	HP:0004950	Peripheral arterial stenosis
7046	TGFBR1	HP:0004944	Dilatation of the cerebral artery
7046	TGFBR1	HP:0004942	Aortic aneurysm
7046	TGFBR1	HP:0005692	Joint hyperflexibility
7046	TGFBR1	HP:0000767	Pectus excavatum
7046	TGFBR1	HP:0000766	Abnormal sternum morphology
7046	TGFBR1	HP:0000768	Pectus carinatum
7046	TGFBR1	HP:0012763	Paroxysmal dyspnea
7046	TGFBR1	HP:0030745	Dilatation of the ductus arteriosus
7046	TGFBR1	HP:0000822	Hypertension
7046	TGFBR1	HP:0000978	Bruising susceptibility
7046	TGFBR1	HP:0000977	Soft skin
7046	TGFBR1	HP:0000987	Atypical scarring of skin
7046	TGFBR1	HP:0000951	Abnormality of the skin
7046	TGFBR1	HP:0000965	Cutis marmorata
7046	TGFBR1	HP:0000963	Thin skin
7046	TGFBR1	HP:0000278	Retrognathia
7046	TGFBR1	HP:0000272	Malar flattening
7046	TGFBR1	HP:0005116	Arterial tortuosity
7046	TGFBR1	HP:0005112	Abdominal aortic aneurysm
7046	TGFBR1	HP:0000238	Hydrocephalus
7046	TGFBR1	HP:0000218	High palate
7046	TGFBR1	HP:0002875	Exertional dyspnea
7046	TGFBR1	HP:0000202	Orofacial cleft
7046	TGFBR1	HP:0001519	Disproportionate tall stature
7046	TGFBR1	HP:0012385	Camptodactyly
7046	TGFBR1	HP:0005182	Bicuspid pulmonary valve
7046	TGFBR1	HP:0005162	Abnormal left ventricular function
7046	TGFBR1	HP:0001695	Cardiac arrest
7046	TGFBR1	HP:0000347	Micrognathia
7046	TGFBR1	HP:0001677	Coronary artery atherosclerosis
7046	TGFBR1	HP:0001647	Bicuspid aortic valve
7046	TGFBR1	HP:0000316	Hypertelorism
7046	TGFBR1	HP:0001643	Patent ductus arteriosus
7046	TGFBR1	HP:0001659	Aortic regurgitation
7046	TGFBR1	HP:0001640	Cardiomegaly
7046	TGFBR1	HP:0001631	Atrial septal defect
7046	TGFBR1	HP:0001634	Mitral valve prolapse
7046	TGFBR1	HP:0012499	Descending aortic dissection
7046	TGFBR1	HP:0005294	Arterial dissection
7046	TGFBR1	HP:0011106	Hypovolemia
7046	TGFBR1	HP:0001763	Pes planus
7046	TGFBR1	HP:0001762	Talipes equinovarus
7046	TGFBR1	HP:0000525	Abnormality iris morphology
7046	TGFBR1	HP:0000520	Proptosis
7046	TGFBR1	HP:0000577	Exotropia
7046	TGFBR1	HP:0000592	Blue sclerae
7046	TGFBR1	HP:0001892	Abnormal bleeding
7048	TGFBR2	HP:0001156	Brachydactyly
7048	TGFBR2	HP:0001166	Arachnodactyly
7048	TGFBR2	HP:0001159	Syndactyly
7048	TGFBR2	HP:0001123	Visual field defect
7048	TGFBR2	HP:0410151	Eosinophilic infiltration of the esophagus
7048	TGFBR2	HP:0007256	Abnormal pyramidal sign
7048	TGFBR2	HP:0001297	Stroke
7048	TGFBR2	HP:0001276	Hypertonia
7048	TGFBR2	HP:0001288	Gait disturbance
7048	TGFBR2	HP:0100835	Benign neoplasm of the central nervous system
7048	TGFBR2	HP:0001250	Seizure
7048	TGFBR2	HP:0001252	Hypotonia
7048	TGFBR2	HP:0001249	Intellectual disability
7048	TGFBR2	HP:0001260	Dysarthria
7048	TGFBR2	HP:0001263	Global developmental delay
7048	TGFBR2	HP:0002516	Increased intracranial pressure
7048	TGFBR2	HP:0000098	Tall stature
7048	TGFBR2	HP:0001371	Flexion contracture
7048	TGFBR2	HP:0001373	Joint dislocation
7048	TGFBR2	HP:0001388	Joint laxity
7048	TGFBR2	HP:0002686	Prenatal maternal abnormality
7048	TGFBR2	HP:0000023	Inguinal hernia
7048	TGFBR2	HP:0001363	Craniosynostosis
7048	TGFBR2	HP:0008872	Feeding difficulties in infancy
7048	TGFBR2	HP:0002671	Basal cell carcinoma
7048	TGFBR2	HP:0000006	Autosomal dominant inheritance
7048	TGFBR2	HP:0002650	Scoliosis
7048	TGFBR2	HP:0002647	Aortic dissection
7048	TGFBR2	HP:0002616	Aortic root aneurysm
7048	TGFBR2	HP:0002617	Vascular dilatation
7048	TGFBR2	HP:0012174	Glioblastoma multiforme
7048	TGFBR2	HP:0000193	Bifid uvula
7048	TGFBR2	HP:0012163	Carotid artery dilatation
7048	TGFBR2	HP:0000175	Cleft palate
7048	TGFBR2	HP:0002705	High, narrow palate
7048	TGFBR2	HP:0001428	Somatic mutation
7048	TGFBR2	HP:0001402	Hepatocellular carcinoma
7048	TGFBR2	HP:0002716	Lymphadenopathy
7048	TGFBR2	HP:0002024	Malabsorption
7048	TGFBR2	HP:0002019	Constipation
7048	TGFBR2	HP:0002017	Nausea and vomiting
7048	TGFBR2	HP:0002027	Abdominal pain
7048	TGFBR2	HP:0003302	Spondylolisthesis
7048	TGFBR2	HP:0002076	Migraine
7048	TGFBR2	HP:0100571	Cardiac diverticulum
7048	TGFBR2	HP:0100576	Amaurosis fugax
7048	TGFBR2	HP:0009473	Joint contracture of the hand
7048	TGFBR2	HP:0002140	Ischemic stroke
7048	TGFBR2	HP:0002138	Subarachnoid hemorrhage
7048	TGFBR2	HP:0002108	Spontaneous pneumothorax
7048	TGFBR2	HP:0002107	Pneumothorax
7048	TGFBR2	HP:0002105	Hemoptysis
7048	TGFBR2	HP:0011934	Dilatation of mesenteric artery
7048	TGFBR2	HP:0002167	Abnormality of speech or vocalization
7048	TGFBR2	HP:0100490	Camptodactyly of finger
7048	TGFBR2	HP:0010526	Dysgraphia
7048	TGFBR2	HP:0010524	Agnosia
7048	TGFBR2	HP:0003401	Paresthesia
7048	TGFBR2	HP:0002239	Gastrointestinal hemorrhage
7048	TGFBR2	HP:0100718	Uterine rupture
7048	TGFBR2	HP:0003549	Abnormality of connective tissue
7048	TGFBR2	HP:0200146	Mucoid extracellular matrix accumulation
7048	TGFBR2	HP:0100775	Dural ectasia
7048	TGFBR2	HP:0100743	Neoplasm of the rectum
7048	TGFBR2	HP:0100749	Chest pain
7048	TGFBR2	HP:0007018	Attention deficit hyperactivity disorder
7048	TGFBR2	HP:0010648	Dermal translucency
7048	TGFBR2	HP:0010622	Neoplasm of the skeletal system
7048	TGFBR2	HP:0001065	Striae distensae
7048	TGFBR2	HP:0002376	Developmental regression
7048	TGFBR2	HP:0002354	Memory impairment
7048	TGFBR2	HP:0002326	Transient ischemic attack
7048	TGFBR2	HP:0100660	Dyskinesia
7048	TGFBR2	HP:0200008	Intestinal polyposis
7048	TGFBR2	HP:0100615	Ovarian neoplasm
7048	TGFBR2	HP:0100613	Death in early adulthood
7048	TGFBR2	HP:0001083	Ectopia lentis
7048	TGFBR2	HP:0010786	Urinary tract neoplasm
7048	TGFBR2	HP:0004959	Descending thoracic aorta aneurysm
7048	TGFBR2	HP:0004955	Generalized arterial tortuosity
7048	TGFBR2	HP:0004970	Ascending tubular aorta aneurysm
7048	TGFBR2	HP:0002308	Chiari malformation
7048	TGFBR2	HP:0004937	Pulmonary artery aneurysm
7048	TGFBR2	HP:0004933	Ascending aortic dissection
7048	TGFBR2	HP:0004950	Peripheral arterial stenosis
7048	TGFBR2	HP:0004944	Dilatation of the cerebral artery
7048	TGFBR2	HP:0004942	Aortic aneurysm
7048	TGFBR2	HP:0003003	Colon cancer
7048	TGFBR2	HP:0005692	Joint hyperflexibility
7048	TGFBR2	HP:0004374	Hemiplegia/hemiparesis
7048	TGFBR2	HP:0003006	Neuroblastoma
7048	TGFBR2	HP:0012735	Cough
7048	TGFBR2	HP:0000767	Pectus excavatum
7048	TGFBR2	HP:0000766	Abnormal sternum morphology
7048	TGFBR2	HP:0000768	Pectus carinatum
7048	TGFBR2	HP:0100031	Neoplasm of the thyroid gland
7048	TGFBR2	HP:0000738	Hallucinations
7048	TGFBR2	HP:0000737	Irritability
7048	TGFBR2	HP:0000739	Anxiety
7048	TGFBR2	HP:0000716	Depression
7048	TGFBR2	HP:0000708	Atypical behavior
7048	TGFBR2	HP:0011459	Esophageal carcinoma
7048	TGFBR2	HP:0012763	Paroxysmal dyspnea
7048	TGFBR2	HP:0030745	Dilatation of the ductus arteriosus
7048	TGFBR2	HP:0003179	Protrusio acetabuli
7048	TGFBR2	HP:0000822	Hypertension
7048	TGFBR2	HP:0100259	Postaxial polydactyly
7048	TGFBR2	HP:0000978	Bruising susceptibility
7048	TGFBR2	HP:0000977	Soft skin
7048	TGFBR2	HP:0000987	Atypical scarring of skin
7048	TGFBR2	HP:0000965	Cutis marmorata
7048	TGFBR2	HP:0000963	Thin skin
7048	TGFBR2	HP:0000939	Osteoporosis
7048	TGFBR2	HP:0005807	Absent distal phalanges
7048	TGFBR2	HP:0000278	Retrognathia
7048	TGFBR2	HP:0000272	Malar flattening
7048	TGFBR2	HP:0005116	Arterial tortuosity
7048	TGFBR2	HP:0005113	Aortic arch aneurysm
7048	TGFBR2	HP:0005112	Abdominal aortic aneurysm
7048	TGFBR2	HP:0000238	Hydrocephalus
7048	TGFBR2	HP:0000218	High palate
7048	TGFBR2	HP:0002875	Exertional dyspnea
7048	TGFBR2	HP:0002894	Neoplasm of the pancreas
7048	TGFBR2	HP:0002893	Pituitary adenoma
7048	TGFBR2	HP:0001522	Death in infancy
7048	TGFBR2	HP:0001537	Umbilical hernia
7048	TGFBR2	HP:0000202	Orofacial cleft
7048	TGFBR2	HP:0001519	Disproportionate tall stature
7048	TGFBR2	HP:0012378	Fatigue
7048	TGFBR2	HP:0012385	Camptodactyly
7048	TGFBR2	HP:0001608	Abnormality of the voice
7048	TGFBR2	HP:0005182	Bicuspid pulmonary valve
7048	TGFBR2	HP:0005162	Abnormal left ventricular function
7048	TGFBR2	HP:0001695	Cardiac arrest
7048	TGFBR2	HP:0000347	Micrognathia
7048	TGFBR2	HP:0001677	Coronary artery atherosclerosis
7048	TGFBR2	HP:0001647	Bicuspid aortic valve
7048	TGFBR2	HP:0000316	Hypertelorism
7048	TGFBR2	HP:0001643	Patent ductus arteriosus
7048	TGFBR2	HP:0001659	Aortic regurgitation
7048	TGFBR2	HP:0001640	Cardiomegaly
7048	TGFBR2	HP:0001631	Atrial septal defect
7048	TGFBR2	HP:0001634	Mitral valve prolapse
7048	TGFBR2	HP:0012499	Descending aortic dissection
7048	TGFBR2	HP:0005294	Arterial dissection
7048	TGFBR2	HP:0011106	Hypovolemia
7048	TGFBR2	HP:0001763	Pes planus
7048	TGFBR2	HP:0001762	Talipes equinovarus
7048	TGFBR2	HP:0006725	Pancreatic adenocarcinoma
7048	TGFBR2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
7048	TGFBR2	HP:0000525	Abnormality iris morphology
7048	TGFBR2	HP:0000520	Proptosis
7048	TGFBR2	HP:0001824	Weight loss
7048	TGFBR2	HP:0000505	Visual impairment
7048	TGFBR2	HP:0000577	Exotropia
7048	TGFBR2	HP:0000592	Blue sclerae
7048	TGFBR2	HP:0001892	Abnormal bleeding
7048	TGFBR2	HP:0001864	Clinodactyly of the 5th toe
7049	TGFBR3	HP:0001123	Visual field defect
7049	TGFBR3	HP:0001269	Hemiparesis
7049	TGFBR3	HP:0001250	Seizure
7049	TGFBR3	HP:0002647	Aortic dissection
7049	TGFBR3	HP:0002616	Aortic root aneurysm
7049	TGFBR3	HP:0002621	Atherosclerosis
7049	TGFBR3	HP:0002138	Subarachnoid hemorrhage
7049	TGFBR3	HP:0002170	Intracranial hemorrhage
7049	TGFBR3	HP:0007029	Cerebral berry aneurysm
7049	TGFBR3	HP:0002363	Abnormal brainstem morphology
7049	TGFBR3	HP:0002326	Transient ischemic attack
7049	TGFBR3	HP:0000822	Hypertension
7049	TGFBR3	HP:0040197	Encephalomalacia
7049	TGFBR3	HP:0012246	Oculomotor nerve palsy
7049	TGFBR3	HP:0012518	Abnormal circle of Willis morphology
7050	TGIF1	HP:0002465	Poor speech
7050	TGIF1	HP:0002474	Expressive language delay
7050	TGIF1	HP:0002451	Limb dystonia
7050	TGIF1	HP:0007301	Oromotor apraxia
7050	TGIF1	HP:0009932	Single naris
7050	TGIF1	HP:0009914	Cyclopia
7050	TGIF1	HP:0002418	Abnormal midbrain morphology
7050	TGIF1	HP:0001290	Generalized hypotonia
7050	TGIF1	HP:0001274	Agenesis of corpus callosum
7050	TGIF1	HP:0001273	Abnormal corpus callosum morphology
7050	TGIF1	HP:0001254	Lethargy
7050	TGIF1	HP:0001250	Seizure
7050	TGIF1	HP:0001249	Intellectual disability
7050	TGIF1	HP:0001257	Spasticity
7050	TGIF1	HP:0008736	Hypoplasia of penis
7050	TGIF1	HP:0007375	Abnormal septum pellucidum morphology
7050	TGIF1	HP:0002540	Inability to walk
7050	TGIF1	HP:0002507	Semilobar holoprosencephaly
7050	TGIF1	HP:0000062	Ambiguous genitalia
7050	TGIF1	HP:0001371	Flexion contracture
7050	TGIF1	HP:0001355	Megalencephaly
7050	TGIF1	HP:0001360	Holoprosencephaly
7050	TGIF1	HP:0001328	Specific learning disability
7050	TGIF1	HP:0001344	Absent speech
7050	TGIF1	HP:0000006	Autosomal dominant inheritance
7050	TGIF1	HP:0002650	Scoliosis
7050	TGIF1	HP:0000193	Bifid uvula
7050	TGIF1	HP:0000161	Median cleft lip
7050	TGIF1	HP:0000175	Cleft palate
7050	TGIF1	HP:0006315	Solitary median maxillary central incisor
7050	TGIF1	HP:0008947	Infantile muscular hypotonia
7050	TGIF1	HP:0012110	Hypoplasia of the pons
7050	TGIF1	HP:0000119	Abnormality of the genitourinary system
7050	TGIF1	HP:0002793	Abnormal pattern of respiration
7050	TGIF1	HP:0000104	Renal agenesis
7050	TGIF1	HP:0002020	Gastroesophageal reflux
7050	TGIF1	HP:0002019	Constipation
7050	TGIF1	HP:0002033	Poor suck
7050	TGIF1	HP:0002015	Dysphagia
7050	TGIF1	HP:0002013	Vomiting
7050	TGIF1	HP:0040327	Abnormal morphology of the olfactory bulb
7050	TGIF1	HP:0005968	Temperature instability
7050	TGIF1	HP:0002099	Asthma
7050	TGIF1	HP:0011787	Central hypothyroidism
7050	TGIF1	HP:0003468	Abnormal vertebral morphology
7050	TGIF1	HP:0003458	EMG: myopathic abnormalities
7050	TGIF1	HP:0002270	Abnormality of the autonomic nervous system
7050	TGIF1	HP:0100704	Cerebral visual impairment
7050	TGIF1	HP:0100710	Impulsivity
7050	TGIF1	HP:0002247	Duodenal atresia
7050	TGIF1	HP:0010654	Aplasia of the falx cerebri
7050	TGIF1	HP:0007018	Attention deficit hyperactivity disorder
7050	TGIF1	HP:0010644	Midnasal stenosis
7050	TGIF1	HP:0011968	Feeding difficulties
7050	TGIF1	HP:0011951	Aspiration pneumonia
7050	TGIF1	HP:0002363	Abnormal brainstem morphology
7050	TGIF1	HP:0001028	Hemangioma
7050	TGIF1	HP:0008501	Median cleft lip and palate
7050	TGIF1	HP:0010804	Tented upper lip vermilion
7050	TGIF1	HP:0009800	Maternal diabetes
7050	TGIF1	HP:0031860	Abnormal heart rate variability
7050	TGIF1	HP:0000612	Iris coloboma
7050	TGIF1	HP:0000601	Hypotelorism
7050	TGIF1	HP:0009062	Infantile axial hypotonia
7050	TGIF1	HP:0012650	Perisylvian polymicrogyria
7050	TGIF1	HP:0004322	Short stature
7050	TGIF1	HP:0006979	Sleep-wake cycle disturbance
7050	TGIF1	HP:0030680	Abnormality of cardiovascular system morphology
7050	TGIF1	HP:0031913	Rhombencephalosynapsis
7050	TGIF1	HP:0000772	Abnormal rib morphology
7050	TGIF1	HP:0000737	Irritability
7050	TGIF1	HP:0000739	Anxiety
7050	TGIF1	HP:0000736	Short attention span
7050	TGIF1	HP:0012718	Morphological abnormality of the gastrointestinal tract
7050	TGIF1	HP:0000741	Apathy
7050	TGIF1	HP:0000716	Depression
7050	TGIF1	HP:0000708	Atypical behavior
7050	TGIF1	HP:0011471	Gastrostomy tube feeding in infancy
7050	TGIF1	HP:0011442	Abnormal central motor function
7050	TGIF1	HP:0003196	Short nose
7050	TGIF1	HP:0000924	Abnormality of the skeletal system
7050	TGIF1	HP:0004478	Ethmoidal encephalocele
7050	TGIF1	HP:0000873	Diabetes insipidus
7050	TGIF1	HP:0000871	Panhypopituitarism
7050	TGIF1	HP:0000863	Central diabetes insipidus
7050	TGIF1	HP:0000830	Anterior hypopituitarism
7050	TGIF1	HP:0012806	Proboscis
7050	TGIF1	HP:0000818	Abnormality of the endocrine system
7050	TGIF1	HP:0000826	Precocious puberty
7050	TGIF1	HP:0000821	Hypothyroidism
7050	TGIF1	HP:0000824	Decreased response to growth hormone stimulation test
7050	TGIF1	HP:0040064	Abnormality of limbs
7050	TGIF1	HP:0045005	Neural tube defect
7050	TGIF1	HP:0012285	Abnormal hypothalamus physiology
7050	TGIF1	HP:0000256	Macrocephaly
7050	TGIF1	HP:0002827	Hip dislocation
7050	TGIF1	HP:0000238	Hydrocephalus
7050	TGIF1	HP:0000252	Microcephaly
7050	TGIF1	HP:0000218	High palate
7050	TGIF1	HP:0001545	Anteriorly placed anus
7050	TGIF1	HP:0002871	Central apnea
7050	TGIF1	HP:0000202	Orofacial cleft
7050	TGIF1	HP:0001508	Failure to thrive
7050	TGIF1	HP:0001511	Intrauterine growth retardation
7050	TGIF1	HP:0001510	Growth delay
7050	TGIF1	HP:0006528	Chronic lung disease
7050	TGIF1	HP:0001680	Coarctation of aorta
7050	TGIF1	HP:0000322	Short philtrum
7050	TGIF1	HP:0001627	Abnormal heart morphology
7050	TGIF1	HP:0001622	Premature birth
7050	TGIF1	HP:0001636	Tetralogy of Fallot
7050	TGIF1	HP:0000407	Sensorineural hearing impairment
7050	TGIF1	HP:0005273	Absent nasal septal cartilage
7050	TGIF1	HP:0005280	Depressed nasal bridge
7050	TGIF1	HP:0000486	Strabismus
7050	TGIF1	HP:0000478	Abnormality of the eye
7050	TGIF1	HP:0000463	Anteverted nares
7050	TGIF1	HP:0000457	Depressed nasal ridge
7050	TGIF1	HP:0000437	Depressed nasal tip
7050	TGIF1	HP:0000453	Choanal atresia
7050	TGIF1	HP:0000446	Narrow nasal bridge
7050	TGIF1	HP:0000508	Ptosis
7051	TGM1	HP:0100806	Sepsis
7051	TGM1	HP:0007431	Congenital ichthyosiform erythroderma
7051	TGM1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
7051	TGM1	HP:0000083	Renal insufficiency
7051	TGM1	HP:0001376	Limitation of joint mobility
7051	TGM1	HP:0001371	Flexion contracture
7051	TGM1	HP:0007549	Desquamation of skin soon after birth
7051	TGM1	HP:0007559	Localized epidermolytic hyperkeratosis
7051	TGM1	HP:0007514	Edema of the dorsum of hands
7051	TGM1	HP:0012098	Edema of the dorsum of feet
7051	TGM1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
7051	TGM1	HP:0007460	Autoamputation of digits
7051	TGM1	HP:0000007	Autosomal recessive inheritance
7051	TGM1	HP:0000164	Abnormality of the dentition
7051	TGM1	HP:0100543	Cognitive impairment
7051	TGM1	HP:0002164	Nail dysplasia
7051	TGM1	HP:0003577	Congenital onset
7051	TGM1	HP:0002205	Recurrent respiratory infections
7051	TGM1	HP:0008404	Nail dystrophy
7051	TGM1	HP:0100758	Gangrene
7051	TGM1	HP:0001036	Parakeratosis
7051	TGM1	HP:0001019	Erythroderma
7051	TGM1	HP:0200020	Corneal erosion
7051	TGM1	HP:0025092	Epidermal acanthosis
7051	TGM1	HP:0010829	Impaired temperature sensation
7051	TGM1	HP:0100679	Lack of skin elasticity
7051	TGM1	HP:0001072	Thickened skin
7051	TGM1	HP:0010783	Erythema
7051	TGM1	HP:0001944	Dehydration
7051	TGM1	HP:0000656	Ectropion
7051	TGM1	HP:0004322	Short stature
7051	TGM1	HP:0000972	Palmoplantar hyperkeratosis
7051	TGM1	HP:0000989	Pruritus
7051	TGM1	HP:0000982	Palmoplantar keratoderma
7051	TGM1	HP:0000958	Dry skin
7051	TGM1	HP:0000966	Hypohidrosis
7051	TGM1	HP:0000962	Hyperkeratosis
7051	TGM1	HP:0008070	Sparse hair
7051	TGM1	HP:0008064	Ichthyosis
7051	TGM1	HP:0040189	Scaling skin
7051	TGM1	HP:0001597	Abnormality of the nail
7051	TGM1	HP:0001596	Alopecia
7051	TGM1	HP:0002828	Multiple joint contractures
7051	TGM1	HP:0025524	Palmoplantar scaling skin
7051	TGM1	HP:0000232	Everted lower lip vermilion
7051	TGM1	HP:0001508	Failure to thrive
7051	TGM1	HP:0011039	Abnormal helix morphology
7051	TGM1	HP:0000389	Chronic otitis media
7051	TGM1	HP:0000365	Hearing impairment
7051	TGM1	HP:0012472	Eclabion
7051	TGM1	HP:0000491	Keratitis
7053	TGM3	HP:0001118	Juvenile cataract
7053	TGM3	HP:0002552	Trichodysplasia
7053	TGM3	HP:0000007	Autosomal recessive inheritance
7053	TGM3	HP:0003593	Infantile onset
7053	TGM3	HP:0002224	Woolly hair
7053	TGM3	HP:0002235	Pili canaliculi
7053	TGM3	HP:0002232	Patchy alopecia
7053	TGM3	HP:0002208	Coarse hair
7053	TGM3	HP:0011364	White hair
7053	TGM3	HP:0001595	Abnormal hair morphology
7053	TGM3	HP:0030056	Uncombable hair
7054	TH	HP:0003785	Decreased CSF homovanillic acid concentration
7054	TH	HP:0003781	Excessive salivation
7054	TH	HP:0002451	Limb dystonia
7054	TH	HP:0002448	Progressive encephalopathy
7054	TH	HP:0007325	Generalized dystonia
7054	TH	HP:0001290	Generalized hypotonia
7054	TH	HP:0001270	Motor delay
7054	TH	HP:0001254	Lethargy
7054	TH	HP:0001256	Intellectual disability, mild
7054	TH	HP:0001252	Hypotonia
7054	TH	HP:0001251	Ataxia
7054	TH	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
7054	TH	HP:0003828	Variable expressivity
7054	TH	HP:0001348	Brisk reflexes
7054	TH	HP:0000007	Autosomal recessive inheritance
7054	TH	HP:0001337	Tremor
7054	TH	HP:0001336	Myoclonus
7054	TH	HP:0001300	Parkinsonism
7054	TH	HP:0008936	Axial hypotonia
7054	TH	HP:0002019	Constipation
7054	TH	HP:0002067	Bradykinesia
7054	TH	HP:0002066	Gait ataxia
7054	TH	HP:0002063	Rigidity
7054	TH	HP:0002071	Abnormality of extrapyramidal motor function
7054	TH	HP:0003487	Babinski sign
7054	TH	HP:0002174	Postural tremor
7054	TH	HP:0010553	Oculogyric crisis
7054	TH	HP:0003593	Infantile onset
7054	TH	HP:0011968	Feeding difficulties
7054	TH	HP:0002395	Lower limb hyperreflexia
7054	TH	HP:0002375	Hypokinesia
7054	TH	HP:0001945	Fever
7054	TH	HP:0004373	Focal dystonia
7054	TH	HP:0000737	Irritability
7054	TH	HP:0000750	Delayed speech and language development
7054	TH	HP:0000298	Mask-like facies
7054	TH	HP:0030166	Night sweats
7054	TH	HP:0001762	Talipes equinovarus
7054	TH	HP:0001761	Pes cavus
7054	TH	HP:0000508	Ptosis
7056	THBD	HP:0000093	Proteinuria
7056	THBD	HP:0000006	Autosomal dominant inheritance
7056	THBD	HP:0002625	Deep venous thrombosis
7056	THBD	HP:0100519	Anuria
7056	THBD	HP:0003581	Adult onset
7056	THBD	HP:0002204	Pulmonary embolism
7056	THBD	HP:0100724	Hypercoagulability
7056	THBD	HP:0005575	Hemolytic-uremic syndrome
7056	THBD	HP:0001937	Microangiopathic hemolytic anemia
7056	THBD	HP:0001903	Anemia
7056	THBD	HP:0001919	Acute kidney injury
7056	THBD	HP:0000790	Hematuria
7056	THBD	HP:0003138	Increased blood urea nitrogen
7056	THBD	HP:0000822	Hypertension
7056	THBD	HP:0003259	Elevated circulating creatinine concentration
7056	THBD	HP:0005421	Decreased circulating complement C3 concentration
7056	THBD	HP:0001873	Thrombocytopenia
7062	TCHH	HP:0000007	Autosomal recessive inheritance
7062	TCHH	HP:0002235	Pili canaliculi
7062	TCHH	HP:0002212	Curly hair
7062	TCHH	HP:0002299	Brittle hair
7062	TCHH	HP:0011463	Childhood onset
7062	TCHH	HP:0030056	Uncombable hair
7066	THPO	HP:0001123	Visual field defect
7066	THPO	HP:0001279	Syncope
7066	THPO	HP:0001250	Seizure
7066	THPO	HP:0001260	Dysarthria
7066	THPO	HP:0000006	Autosomal dominant inheritance
7066	THPO	HP:0002637	Cerebral ischemia
7066	THPO	HP:0002650	Scoliosis
7066	THPO	HP:0003312	Abnormal form of the vertebral bodies
7066	THPO	HP:0002092	Pulmonary arterial hypertension
7066	THPO	HP:0008148	Impaired epinephrine-induced platelet aggregation
7066	THPO	HP:0011902	Abnormal hemoglobin
7066	THPO	HP:0003401	Paresthesia
7066	THPO	HP:0004866	Impaired ADP-induced platelet aggregation
7066	THPO	HP:0100749	Chest pain
7066	THPO	HP:0008320	Impaired collagen-induced platelet aggregation
7066	THPO	HP:0004808	Acute myeloid leukemia
7066	THPO	HP:0002321	Vertigo
7066	THPO	HP:0002315	Headache
7066	THPO	HP:0002326	Transient ischemic attack
7066	THPO	HP:0004936	Venous thrombosis
7066	THPO	HP:0004950	Peripheral arterial stenosis
7066	THPO	HP:0005506	Chronic myelogenous leukemia
7066	THPO	HP:0001903	Anemia
7066	THPO	HP:0004322	Short stature
7066	THPO	HP:0004331	Decreased skull ossification
7066	THPO	HP:0004420	Arterial thrombosis
7066	THPO	HP:0000995	Melanocytic nevus
7066	THPO	HP:0000975	Hyperhidrosis
7066	THPO	HP:0000989	Pruritus
7066	THPO	HP:0000280	Coarse facial features
7066	THPO	HP:0002863	Myelodysplasia
7066	THPO	HP:0005268	Miscarriage
7066	THPO	HP:0001671	Abnormal cardiac septum morphology
7066	THPO	HP:0000470	Short neck
7066	THPO	HP:0001744	Splenomegaly
7066	THPO	HP:0001824	Weight loss
7066	THPO	HP:0001892	Abnormal bleeding
7066	THPO	HP:0001894	Thrombocytosis
7066	THPO	HP:0001873	Thrombocytopenia
7067	THRA	HP:0001374	Congenital hip dislocation
7067	THRA	HP:0000006	Autosomal dominant inheritance
7067	THRA	HP:0002645	Wormian bones
7067	THRA	HP:0000158	Macroglossia
7067	THRA	HP:0002750	Delayed skeletal maturation
7067	THRA	HP:0002019	Constipation
7067	THRA	HP:0002136	Broad-based gait
7067	THRA	HP:0002329	Drowsiness
7067	THRA	HP:0001903	Anemia
7067	THRA	HP:0000684	Delayed eruption of teeth
7067	THRA	HP:0004324	Increased body weight
7067	THRA	HP:0004482	Relative macrocephaly
7067	THRA	HP:0000851	Congenital hypothyroidism
7067	THRA	HP:0000958	Dry skin
7067	THRA	HP:0031418	Increased body mass index
7067	THRA	HP:0001539	Omphalocele
7067	THRA	HP:0001510	Growth delay
7067	THRA	HP:0001609	Hoarse voice
7067	THRA	HP:0002930	Impaired sensitivity to thyroid hormone
7067	THRA	HP:0000316	Hypertelorism
7067	THRA	HP:0012559	Increased T3/T4 ratio
7068	THRB	HP:0025379	Anti-thyroid peroxidase antibody positivity
7068	THRB	HP:0000007	Autosomal recessive inheritance
7068	THRB	HP:0000006	Autosomal dominant inheritance
7068	THRB	HP:0025484	Increased circulating thyroglobulin level
7068	THRB	HP:0005978	Type II diabetes mellitus
7068	THRB	HP:0011788	Increased circulating free T3
7068	THRB	HP:0008223	Compensated hypothyroidism
7068	THRB	HP:0010655	Epiphyseal stippling
7068	THRB	HP:0007018	Attention deficit hyperactivity disorder
7068	THRB	HP:0032069	Anti-thyroglobulin antibody positivity
7068	THRB	HP:0003621	Juvenile onset
7068	THRB	HP:0004324	Increased body weight
7068	THRB	HP:0034189	Anti-thyroid-stimulating hormone receptor antibody positivity
7068	THRB	HP:0000750	Delayed speech and language development
7068	THRB	HP:0034116	Anti-thyrotropin receptor antibody
7068	THRB	HP:0011463	Childhood onset
7068	THRB	HP:0000853	Goiter
7068	THRB	HP:0000836	Hyperthyroidism
7068	THRB	HP:0000819	Diabetes mellitus
7068	THRB	HP:0033077	Increased circulating free T4 concentration
7068	THRB	HP:0001518	Small for gestational age
7068	THRB	HP:0031506	Increased circulating T4 concentration
7068	THRB	HP:0012378	Fatigue
7068	THRB	HP:0002930	Impaired sensitivity to thyroid hormone
7068	THRB	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7068	THRB	HP:0000365	Hearing impairment
7068	THRB	HP:0000520	Proptosis
7072	TIA1	HP:0002460	Distal muscle weakness
7072	TIA1	HP:0001283	Bulbar palsy
7072	TIA1	HP:0007354	Amyotrophic lateral sclerosis
7072	TIA1	HP:0003805	Rimmed vacuoles
7072	TIA1	HP:0000007	Autosomal recessive inheritance
7072	TIA1	HP:0000006	Autosomal dominant inheritance
7072	TIA1	HP:0008959	Distal upper limb muscle weakness
7072	TIA1	HP:0008954	Intrinsic hand muscle atrophy
7072	TIA1	HP:0003376	Steppage gait
7072	TIA1	HP:0008180	Mildly elevated creatine kinase
7072	TIA1	HP:0002145	Frontotemporal dementia
7072	TIA1	HP:0003458	EMG: myopathic abnormalities
7072	TIA1	HP:0003596	Middle age onset
7072	TIA1	HP:0003584	Late onset
7072	TIA1	HP:0003581	Adult onset
7072	TIA1	HP:0002381	Aphasia
7072	TIA1	HP:0003693	Distal amyotrophy
7072	TIA1	HP:0003690	Limb muscle weakness
7072	TIA1	HP:0002355	Difficulty walking
7072	TIA1	HP:0002354	Memory impairment
7072	TIA1	HP:0003677	Slowly progressive
7072	TIA1	HP:0007149	Distal upper limb amyotrophy
7072	TIA1	HP:0002312	Clumsiness
7072	TIA1	HP:0009077	Weakness of long finger extensor muscles
7072	TIA1	HP:0009027	Foot dorsiflexor weakness
7072	TIA1	HP:0000751	Personality changes
7072	TIA1	HP:0011462	Young adult onset
7072	TIA1	HP:0003198	Myopathy
7072	TIA1	HP:0100315	Lewy bodies
7072	TIA1	HP:0001638	Cardiomyopathy
7074	TIAM1	HP:0002444	Hypothalamic hamartoma
7074	TIAM1	HP:0001250	Seizure
7074	TIAM1	HP:0001249	Intellectual disability
7074	TIAM1	HP:0001263	Global developmental delay
7074	TIAM1	HP:0008770	Obsessive-compulsive trait
7074	TIAM1	HP:0002506	Diffuse cerebral atrophy
7074	TIAM1	HP:0000028	Cryptorchidism
7074	TIAM1	HP:0033725	Thin corpus callosum
7074	TIAM1	HP:0000007	Autosomal recessive inheritance
7074	TIAM1	HP:0008936	Axial hypotonia
7074	TIAM1	HP:0003429	CNS hypomyelination
7074	TIAM1	HP:0003593	Infantile onset
7074	TIAM1	HP:0007018	Attention deficit hyperactivity disorder
7074	TIAM1	HP:0000750	Delayed speech and language development
7074	TIAM1	HP:0000729	Autistic behavior
7074	TIAM1	HP:0011463	Childhood onset
7074	TIAM1	HP:0000821	Hypothyroidism
7074	TIAM1	HP:0001510	Growth delay
7074	TIAM1	HP:0002917	Hypomagnesemia
7074	TIAM1	HP:0001629	Ventricular septal defect
7075	TIE1	HP:0000006	Autosomal dominant inheritance
7075	TIE1	HP:0001004	Lymphedema
7075	TIE1	HP:0010741	Pedal edema
7075	TIE1	HP:0003621	Juvenile onset
7075	TIE1	HP:0011462	Young adult onset
7078	TIMP3	HP:0001129	Large central visual field defect
7078	TIMP3	HP:0001141	Severely reduced visual acuity
7078	TIMP3	HP:0001105	Retinal atrophy
7078	TIMP3	HP:0000006	Autosomal dominant inheritance
7078	TIMP3	HP:0030500	Yellow/white lesions of the macula
7078	TIMP3	HP:0000618	Blindness
7078	TIMP3	HP:0000610	Abnormal choroid morphology
7078	TIMP3	HP:0030491	Choriocapillaris atrophy
7078	TIMP3	HP:0000662	Nyctalopia
7078	TIMP3	HP:0030625	Hyporeflective spaces on macular OCT
7078	TIMP3	HP:0030602	Abnormal fundus autofluorescence imaging
7078	TIMP3	HP:0011462	Young adult onset
7078	TIMP3	HP:0011506	Choroidal neovascularization
7078	TIMP3	HP:0007722	Retinal pigment epithelial atrophy
7078	TIMP3	HP:0007754	Macular dystrophy
7078	TIMP3	HP:0031528	Subretinal deposits
7078	TIMP3	HP:0000512	Abnormal electroretinogram
7078	TIMP3	HP:0000501	Glaucoma
7078	TIMP3	HP:0000580	Pigmentary retinopathy
7078	TIMP3	HP:0000572	Visual loss
7078	TIMP3	HP:0000533	Chorioretinal atrophy
7080	NKX2-1	HP:0025179	Ground-glass opacification
7080	NKX2-1	HP:0010864	Intellectual disability, severe
7080	NKX2-1	HP:0001290	Generalized hypotonia
7080	NKX2-1	HP:0001274	Agenesis of corpus callosum
7080	NKX2-1	HP:0001270	Motor delay
7080	NKX2-1	HP:0001288	Gait disturbance
7080	NKX2-1	HP:0001256	Intellectual disability, mild
7080	NKX2-1	HP:0001252	Hypotonia
7080	NKX2-1	HP:0001251	Ataxia
7080	NKX2-1	HP:0001266	Choreoathetosis
7080	NKX2-1	HP:0001260	Dysarthria
7080	NKX2-1	HP:0001263	Global developmental delay
7080	NKX2-1	HP:0002527	Falls
7080	NKX2-1	HP:0000076	Vesicoureteral reflux
7080	NKX2-1	HP:0000047	Hypospadias
7080	NKX2-1	HP:0000021	Megacystis
7080	NKX2-1	HP:0002679	Abnormal sella turcica morphology
7080	NKX2-1	HP:0025394	Cystic pattern on pulmonary HRCT
7080	NKX2-1	HP:0001332	Dystonia
7080	NKX2-1	HP:0001324	Muscle weakness
7080	NKX2-1	HP:0000006	Autosomal dominant inheritance
7080	NKX2-1	HP:0001336	Myoclonus
7080	NKX2-1	HP:0002643	Neonatal respiratory distress
7080	NKX2-1	HP:0000158	Macroglossia
7080	NKX2-1	HP:0008947	Infantile muscular hypotonia
7080	NKX2-1	HP:0002789	Tachypnea
7080	NKX2-1	HP:0002019	Constipation
7080	NKX2-1	HP:0002086	Abnormality of the respiratory system
7080	NKX2-1	HP:0002080	Intention tremor
7080	NKX2-1	HP:0002098	Respiratory distress
7080	NKX2-1	HP:0002099	Asthma
7080	NKX2-1	HP:0002092	Pulmonary arterial hypertension
7080	NKX2-1	HP:0002091	Restrictive ventilatory defect
7080	NKX2-1	HP:0002072	Chorea
7080	NKX2-1	HP:0011780	Thyroid hemiagenesis
7080	NKX2-1	HP:0008191	Thyroid agenesis
7080	NKX2-1	HP:0008188	Thyroid dysgenesis
7080	NKX2-1	HP:0002136	Broad-based gait
7080	NKX2-1	HP:0002113	Pulmonary infiltrates
7080	NKX2-1	HP:0002186	Apraxia
7080	NKX2-1	HP:0008223	Compensated hypothyroidism
7080	NKX2-1	HP:0008213	Gonadotropin deficiency
7080	NKX2-1	HP:0003593	Infantile onset
7080	NKX2-1	HP:0003577	Congenital onset
7080	NKX2-1	HP:0002205	Recurrent respiratory infections
7080	NKX2-1	HP:0002206	Pulmonary fibrosis
7080	NKX2-1	HP:0100786	Hypersomnia
7080	NKX2-1	HP:0100738	Abnormal eating behavior
7080	NKX2-1	HP:0100750	Atelectasis
7080	NKX2-1	HP:0100753	Schizophrenia
7080	NKX2-1	HP:0011968	Feeding difficulties
7080	NKX2-1	HP:0002389	Cavum septum pellucidum
7080	NKX2-1	HP:0002360	Sleep disturbance
7080	NKX2-1	HP:0002359	Frequent falls
7080	NKX2-1	HP:0002355	Difficulty walking
7080	NKX2-1	HP:0009797	Cholesteatoma
7080	NKX2-1	HP:0032177	Parenchymal consolidation
7080	NKX2-1	HP:0003623	Neonatal onset
7080	NKX2-1	HP:0002311	Incoordination
7080	NKX2-1	HP:0002312	Clumsiness
7080	NKX2-1	HP:0001955	Unexplained fevers
7080	NKX2-1	HP:0000668	Hypodontia
7080	NKX2-1	HP:0001999	Abnormal facial shape
7080	NKX2-1	HP:0004322	Short stature
7080	NKX2-1	HP:0004305	Involuntary movements
7080	NKX2-1	HP:0000752	Hyperactivity
7080	NKX2-1	HP:0012735	Cough
7080	NKX2-1	HP:0100022	Abnormality of movement
7080	NKX2-1	HP:0000739	Anxiety
7080	NKX2-1	HP:0000736	Short attention span
7080	NKX2-1	HP:0000726	Dementia
7080	NKX2-1	HP:0000722	Compulsive behaviors
7080	NKX2-1	HP:0000707	Abnormality of the nervous system
7080	NKX2-1	HP:0011463	Childhood onset
7080	NKX2-1	HP:0000851	Congenital hypothyroidism
7080	NKX2-1	HP:0000853	Goiter
7080	NKX2-1	HP:0000829	Hypoparathyroidism
7080	NKX2-1	HP:0000821	Hypothyroidism
7080	NKX2-1	HP:0000824	Decreased response to growth hormone stimulation test
7080	NKX2-1	HP:0000820	Abnormality of the thyroid gland
7080	NKX2-1	HP:0030874	Oxygen desaturation on exertion
7080	NKX2-1	HP:0003270	Abdominal distention
7080	NKX2-1	HP:0030828	Wheezing
7080	NKX2-1	HP:0030830	Crackles
7080	NKX2-1	HP:0040198	Non-medullary thyroid carcinoma
7080	NKX2-1	HP:0000280	Coarse facial features
7080	NKX2-1	HP:0000271	Abnormality of the face
7080	NKX2-1	HP:0030082	Abnormal drinking behavior
7080	NKX2-1	HP:0000239	Large fontanelles
7080	NKX2-1	HP:0000252	Microcephaly
7080	NKX2-1	HP:0002878	Respiratory failure
7080	NKX2-1	HP:0002895	Papillary thyroid carcinoma
7080	NKX2-1	HP:0001508	Failure to thrive
7080	NKX2-1	HP:0001510	Growth delay
7080	NKX2-1	HP:0012378	Fatigue
7080	NKX2-1	HP:0006530	Abnormal pulmonary interstitial morphology
7080	NKX2-1	HP:0006532	Recurrent pneumonia
7080	NKX2-1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7080	NKX2-1	HP:0001671	Abnormal cardiac septum morphology
7080	NKX2-1	HP:0001655	Patent foramen ovale
7080	NKX2-1	HP:0001629	Ventricular septal defect
7080	NKX2-1	HP:0001631	Atrial septal defect
7080	NKX2-1	HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion
7080	NKX2-1	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion
7080	NKX2-1	HP:0000407	Sensorineural hearing impairment
7080	NKX2-1	HP:0000465	Webbed neck
7080	NKX2-1	HP:0012418	Hypoxemia
7084	TK2	HP:0002460	Distal muscle weakness
7084	TK2	HP:0008625	Severe sensorineural hearing impairment
7084	TK2	HP:0008610	Infantile sensorineural hearing impairment
7084	TK2	HP:0007269	Spinal muscular atrophy
7084	TK2	HP:0003737	Mitochondrial myopathy
7084	TK2	HP:0003701	Proximal muscle weakness
7084	TK2	HP:0003700	Generalized amyotrophy
7084	TK2	HP:0001290	Generalized hypotonia
7084	TK2	HP:0001272	Cerebellar atrophy
7084	TK2	HP:0001270	Motor delay
7084	TK2	HP:0001283	Bulbar palsy
7084	TK2	HP:0001250	Seizure
7084	TK2	HP:0001252	Hypotonia
7084	TK2	HP:0001251	Ataxia
7084	TK2	HP:0001265	Hyporeflexia
7084	TK2	HP:0001260	Dysarthria
7084	TK2	HP:0002540	Inability to walk
7084	TK2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
7084	TK2	HP:0002500	Abnormal cerebral white matter morphology
7084	TK2	HP:0003819	Death in childhood
7084	TK2	HP:0001349	Facial diplegia
7084	TK2	HP:0008872	Feeding difficulties in infancy
7084	TK2	HP:0001324	Muscle weakness
7084	TK2	HP:0000007	Autosomal recessive inheritance
7084	TK2	HP:0002650	Scoliosis
7084	TK2	HP:0001488	Bilateral ptosis
7084	TK2	HP:0007641	Dyschromatopsia
7084	TK2	HP:0008945	Loss of ability to walk in early childhood
7084	TK2	HP:0025403	Stooped posture
7084	TK2	HP:0002747	Respiratory insufficiency due to muscle weakness
7084	TK2	HP:0003355	Aminoaciduria
7084	TK2	HP:0003326	Myalgia
7084	TK2	HP:0002015	Dysphagia
7084	TK2	HP:0003324	Generalized muscle weakness
7084	TK2	HP:0005946	Ventilator dependence with inability to wean
7084	TK2	HP:0100543	Cognitive impairment
7084	TK2	HP:0002098	Respiratory distress
7084	TK2	HP:0002093	Respiratory insufficiency
7084	TK2	HP:0002067	Bradykinesia
7084	TK2	HP:0003390	Sensory axonal neuropathy
7084	TK2	HP:0003391	Gowers sign
7084	TK2	HP:0002059	Cerebral atrophy
7084	TK2	HP:0002151	Increased serum lactate
7084	TK2	HP:0002134	Abnormal basal ganglia morphology
7084	TK2	HP:0003458	EMG: myopathic abnormalities
7084	TK2	HP:0011924	Decreased activity of mitochondrial complex III
7084	TK2	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
7084	TK2	HP:0011923	Decreased activity of mitochondrial complex I
7084	TK2	HP:0002197	Generalized-onset seizure
7084	TK2	HP:0002194	Delayed gross motor development
7084	TK2	HP:0003401	Paresthesia
7084	TK2	HP:0003596	Middle age onset
7084	TK2	HP:0003593	Infantile onset
7084	TK2	HP:0003552	Muscle stiffness
7084	TK2	HP:0003546	Exercise intolerance
7084	TK2	HP:0008347	Decreased activity of mitochondrial complex IV
7084	TK2	HP:0010628	Facial palsy
7084	TK2	HP:0002396	Cogwheel rigidity
7084	TK2	HP:0003698	Difficulty standing
7084	TK2	HP:0002362	Shuffling gait
7084	TK2	HP:0003691	Scapular winging
7084	TK2	HP:0003690	Limb muscle weakness
7084	TK2	HP:0003688	Cytochrome C oxidase-negative muscle fibers
7084	TK2	HP:0002376	Developmental regression
7084	TK2	HP:0002345	Action tremor
7084	TK2	HP:0003676	Progressive
7084	TK2	HP:0002355	Difficulty walking
7084	TK2	HP:0002333	Motor deterioration
7084	TK2	HP:0100653	Optic neuritis
7084	TK2	HP:0009830	Peripheral neuropathy
7084	TK2	HP:0007105	Infantile encephalopathy
7084	TK2	HP:0009073	Progressive proximal muscle weakness
7084	TK2	HP:0006887	Intellectual disability, progressive
7084	TK2	HP:0000648	Optic atrophy
7084	TK2	HP:0000737	Irritability
7084	TK2	HP:0000716	Depression
7084	TK2	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
7084	TK2	HP:0011463	Childhood onset
7084	TK2	HP:0003198	Myopathy
7084	TK2	HP:0003128	Lactic acidosis
7084	TK2	HP:0003236	Elevated circulating creatine kinase concentration
7084	TK2	HP:0003202	Skeletal muscle atrophy
7084	TK2	HP:0003200	Ragged-red muscle fibers
7084	TK2	HP:0100295	Muscle fiber atrophy
7084	TK2	HP:0000298	Mask-like facies
7084	TK2	HP:0002878	Respiratory failure
7084	TK2	HP:0001531	Failure to thrive in infancy
7084	TK2	HP:0006532	Recurrent pneumonia
7084	TK2	HP:0002936	Distal sensory impairment
7084	TK2	HP:0002921	Abnormal cerebrospinal fluid morphology
7084	TK2	HP:0000365	Hearing impairment
7084	TK2	HP:0001621	Weak voice
7084	TK2	HP:0001638	Cardiomyopathy
7084	TK2	HP:0030319	Weakness of facial musculature
7084	TK2	HP:0000479	Abnormal retinal morphology
7084	TK2	HP:0030237	Hand muscle weakness
7084	TK2	HP:0012432	Chronic fatigue
7084	TK2	HP:0000508	Ptosis
7084	TK2	HP:0000505	Visual impairment
7084	TK2	HP:0000597	Ophthalmoparesis
7084	TK2	HP:0000590	Progressive external ophthalmoplegia
7084	TK2	HP:0000544	External ophthalmoplegia
7086	TKT	HP:0001256	Intellectual disability, mild
7086	TKT	HP:0001252	Hypotonia
7086	TKT	HP:0001249	Intellectual disability
7086	TKT	HP:0001263	Global developmental delay
7086	TKT	HP:0001344	Absent speech
7086	TKT	HP:0000007	Autosomal recessive inheritance
7086	TKT	HP:0410072	Increased level of ribose in urine
7086	TKT	HP:0000107	Renal cyst
7086	TKT	HP:0003577	Congenital onset
7086	TKT	HP:0002240	Hepatomegaly
7086	TKT	HP:0100716	Self-injurious behavior
7086	TKT	HP:0007018	Attention deficit hyperactivity disorder
7086	TKT	HP:0003508	Proportionate short stature
7086	TKT	HP:0001051	Seborrheic dermatitis
7086	TKT	HP:0100651	Type I diabetes mellitus
7086	TKT	HP:0000733	Abnormal repetitive mannerisms
7086	TKT	HP:0000750	Delayed speech and language development
7086	TKT	HP:0000722	Compulsive behaviors
7086	TKT	HP:0000869	Secondary amenorrhea
7086	TKT	HP:0011686	Abnormal coronary artery course
7086	TKT	HP:0025550	Elevated circulating ribitol concentration
7086	TKT	HP:0000365	Hearing impairment
7086	TKT	HP:0001643	Patent ductus arteriosus
7086	TKT	HP:0001655	Patent foramen ovale
7086	TKT	HP:0001629	Ventricular septal defect
7086	TKT	HP:0001627	Abnormal heart morphology
7086	TKT	HP:0001631	Atrial septal defect
7086	TKT	HP:0000486	Strabismus
7086	TKT	HP:0000518	Cataract
7086	TKT	HP:0000519	Developmental cataract
7086	TKT	HP:0000509	Conjunctivitis
7086	TKT	HP:0000554	Uveitis
7092	TLL1	HP:0001297	Stroke
7092	TLL1	HP:0001279	Syncope
7092	TLL1	HP:0000006	Autosomal dominant inheritance
7092	TLL1	HP:0031295	Left atrial enlargement
7092	TLL1	HP:0002795	Abnormal respiratory system physiology
7092	TLL1	HP:0002789	Tachypnea
7092	TLL1	HP:0002718	Recurrent bacterial infections
7092	TLL1	HP:0005957	Breathing dysregulation
7092	TLL1	HP:0002094	Dyspnea
7092	TLL1	HP:0002092	Pulmonary arterial hypertension
7092	TLL1	HP:0002090	Pneumonia
7092	TLL1	HP:0011712	Right bundle branch block
7092	TLL1	HP:0011710	Bundle branch block
7092	TLL1	HP:0011705	First degree atrioventricular block
7092	TLL1	HP:0004755	Supraventricular tachycardia
7092	TLL1	HP:0002105	Hemoptysis
7092	TLL1	HP:0004749	Atrial flutter
7092	TLL1	HP:0003577	Congenital onset
7092	TLL1	HP:0003546	Exercise intolerance
7092	TLL1	HP:0002205	Recurrent respiratory infections
7092	TLL1	HP:0100760	Clubbing of toes
7092	TLL1	HP:0100759	Clubbing of fingers
7092	TLL1	HP:0002326	Transient ischemic attack
7092	TLL1	HP:0010741	Pedal edema
7092	TLL1	HP:0004927	Pulmonary artery dilatation
7092	TLL1	HP:0001962	Palpitations
7092	TLL1	HP:0001907	Thromboembolism
7092	TLL1	HP:0012764	Orthopnea
7092	TLL1	HP:0030718	Right atrial enlargement
7092	TLL1	HP:0000961	Cyanosis
7092	TLL1	HP:0011675	Arrhythmia
7092	TLL1	HP:0012248	Prolonged PR interval
7092	TLL1	HP:0012250	ST segment depression
7092	TLL1	HP:0005133	Right ventricular dilatation
7092	TLL1	HP:0005115	Supraventricular arrhythmia
7092	TLL1	HP:0005110	Atrial fibrillation
7092	TLL1	HP:0002875	Exertional dyspnea
7092	TLL1	HP:0001508	Failure to thrive
7092	TLL1	HP:0012398	Peripheral edema
7092	TLL1	HP:0012378	Fatigue
7092	TLL1	HP:0012382	Left-to-right shunt
7092	TLL1	HP:0006536	Airway obstruction
7092	TLL1	HP:0005180	Tricuspid regurgitation
7092	TLL1	HP:0005162	Abnormal left ventricular function
7092	TLL1	HP:0001694	Right-to-left shunt
7092	TLL1	HP:0001678	Atrioventricular block
7092	TLL1	HP:0001662	Bradycardia
7092	TLL1	HP:0001653	Mitral regurgitation
7092	TLL1	HP:0001635	Congestive heart failure
7092	TLL1	HP:0001631	Atrial septal defect
7092	TLL1	HP:0001633	Abnormal mitral valve morphology
7092	TLL1	HP:0031658	Third heart sound
7092	TLL1	HP:0005317	Increased pulmonary vascular resistance
7092	TLL1	HP:0001708	Right ventricular failure
7092	TLL1	HP:0001712	Left ventricular hypertrophy
7092	TLL1	HP:0031595	Abnormal P wave
7092	TLL1	HP:0031662	Fixed splitting of the second heart sound
7092	TLL1	HP:0031664	Systolic heart murmur
7092	TLL1	HP:0031687	Abnormally loud pulmonic component of the second heart sound
7097	TLR2	HP:0000006	Autosomal dominant inheritance
7097	TLR2	HP:0001428	Somatic mutation
7097	TLR2	HP:0002715	Abnormality of the immune system
7097	TLR2	HP:0005584	Renal cell carcinoma
7097	TLR2	HP:0002891	Uterine leiomyosarcoma
7097	TLR2	HP:0006753	Neoplasm of the stomach
7097	TLR2	HP:0006740	Transitional cell carcinoma of the bladder
7097	TLR2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
7098	TLR3	HP:0025143	Chills
7098	TLR3	HP:0001269	Hemiparesis
7098	TLR3	HP:0001268	Mental deterioration
7098	TLR3	HP:0001287	Meningitis
7098	TLR3	HP:0001289	Confusion
7098	TLR3	HP:0001254	Lethargy
7098	TLR3	HP:0001250	Seizure
7098	TLR3	HP:0001249	Intellectual disability
7098	TLR3	HP:0001262	Excessive daytime somnolence
7098	TLR3	HP:0001259	Coma
7098	TLR3	HP:0003829	Typified by incomplete penetrance
7098	TLR3	HP:0001347	Hyperreflexia
7098	TLR3	HP:0031179	Nuchal rigidity
7098	TLR3	HP:0000007	Autosomal recessive inheritance
7098	TLR3	HP:0000006	Autosomal dominant inheritance
7098	TLR3	HP:0002721	Immunodeficiency
7098	TLR3	HP:0002017	Nausea and vomiting
7098	TLR3	HP:0030955	Alcoholism
7098	TLR3	HP:0002133	Status epilepticus
7098	TLR3	HP:0002181	Cerebral edema
7098	TLR3	HP:0002167	Abnormality of speech or vocalization
7098	TLR3	HP:0002171	Gliosis
7098	TLR3	HP:0011897	Neutrophilia
7098	TLR3	HP:0004887	Respiratory failure requiring assisted ventilation
7098	TLR3	HP:0200149	CSF lymphocytic pleiocytosis
7098	TLR3	HP:0011972	Hypoglycorrhachia
7098	TLR3	HP:0002384	Focal impaired awareness seizure
7098	TLR3	HP:0002353	EEG abnormality
7098	TLR3	HP:0002349	Focal aware seizure
7098	TLR3	HP:0002315	Headache
7098	TLR3	HP:0003621	Juvenile onset
7098	TLR3	HP:0007185	Loss of consciousness
7098	TLR3	HP:0001974	Leukocytosis
7098	TLR3	HP:0001945	Fever
7098	TLR3	HP:0004302	Functional motor deficit
7098	TLR3	HP:0004372	Reduced consciousness/confusion
7098	TLR3	HP:0012378	Fatigue
7098	TLR3	HP:0002922	Increased CSF protein concentration
7098	TLR3	HP:0002902	Hyponatremia
7098	TLR3	HP:0012302	Herpes simplex encephalitis
7098	TLR3	HP:0012443	Abnormality of brain morphology
7098	TLR3	HP:0011227	Elevated circulating C-reactive protein concentration
7099	TLR4	HP:0007256	Abnormal pyramidal sign
7099	TLR4	HP:0010885	Avascular necrosis
7099	TLR4	HP:0100820	Glomerulopathy
7099	TLR4	HP:0001269	Hemiparesis
7099	TLR4	HP:0001287	Meningitis
7099	TLR4	HP:0001289	Confusion
7099	TLR4	HP:0001288	Gait disturbance
7099	TLR4	HP:0001250	Seizure
7099	TLR4	HP:0001251	Ataxia
7099	TLR4	HP:0002516	Increased intracranial pressure
7099	TLR4	HP:0000083	Renal insufficiency
7099	TLR4	HP:0001369	Arthritis
7099	TLR4	HP:0001347	Hyperreflexia
7099	TLR4	HP:0002637	Cerebral ischemia
7099	TLR4	HP:0002633	Vasculitis
7099	TLR4	HP:0000155	Oral ulcer
7099	TLR4	HP:0001482	Subcutaneous nodule
7099	TLR4	HP:0002716	Lymphadenopathy
7099	TLR4	HP:0002024	Malabsorption
7099	TLR4	HP:0002017	Nausea and vomiting
7099	TLR4	HP:0002027	Abdominal pain
7099	TLR4	HP:0003326	Myalgia
7099	TLR4	HP:0002076	Migraine
7099	TLR4	HP:0002039	Anorexia
7099	TLR4	HP:0100584	Endocarditis
7099	TLR4	HP:0002102	Pleuritis
7099	TLR4	HP:0002113	Pulmonary infiltrates
7099	TLR4	HP:0002105	Hemoptysis
7099	TLR4	HP:0003401	Paresthesia
7099	TLR4	HP:0002239	Gastrointestinal hemorrhage
7099	TLR4	HP:0002202	Pleural effusion
7099	TLR4	HP:0002204	Pulmonary embolism
7099	TLR4	HP:0100796	Orchitis
7099	TLR4	HP:0100758	Gangrene
7099	TLR4	HP:0002383	Infectious encephalitis
7099	TLR4	HP:0001061	Acne
7099	TLR4	HP:0002376	Developmental regression
7099	TLR4	HP:0002354	Memory impairment
7099	TLR4	HP:0002321	Vertigo
7099	TLR4	HP:0100653	Optic neuritis
7099	TLR4	HP:0100654	Retrobulbar optic neuritis
7099	TLR4	HP:0200034	Papule
7099	TLR4	HP:0001097	Keratoconjunctivitis sicca
7099	TLR4	HP:0100614	Myositis
7099	TLR4	HP:0004936	Venous thrombosis
7099	TLR4	HP:0006824	Cranial nerve paralysis
7099	TLR4	HP:0000618	Blindness
7099	TLR4	HP:0000613	Photophobia
7099	TLR4	HP:0001945	Fever
7099	TLR4	HP:0012649	Increased inflammatory response
7099	TLR4	HP:0000737	Irritability
7099	TLR4	HP:0000708	Atypical behavior
7099	TLR4	HP:0004420	Arterial thrombosis
7099	TLR4	HP:0100326	Immunologic hypersensitivity
7099	TLR4	HP:0008066	Abnormal blistering of the skin
7099	TLR4	HP:0002829	Arthralgia
7099	TLR4	HP:0012378	Fatigue
7099	TLR4	HP:0001658	Myocardial infarction
7099	TLR4	HP:0001659	Aortic regurgitation
7099	TLR4	HP:0001653	Mitral regurgitation
7099	TLR4	HP:0001637	Abnormal myocardium morphology
7099	TLR4	HP:0001733	Pancreatitis
7099	TLR4	HP:0001701	Pericarditis
7099	TLR4	HP:0000488	Retinopathy
7099	TLR4	HP:0011107	Recurrent aphthous stomatitis
7099	TLR4	HP:0001744	Splenomegaly
7099	TLR4	HP:0000518	Cataract
7099	TLR4	HP:0001824	Weight loss
7102	TSPAN7	HP:0001249	Intellectual disability
7102	TSPAN7	HP:0001419	X-linked recessive inheritance
7102	TSPAN7	HP:0000639	Nystagmus
7102	TSPAN7	HP:0000689	Dental malocclusion
7102	TSPAN7	HP:0000750	Delayed speech and language development
7102	TSPAN7	HP:0000275	Narrow face
7102	TSPAN7	HP:0000276	Long face
7102	TSPAN7	HP:0000322	Short philtrum
7102	TSPAN7	HP:0001792	Small nail
7102	TSPAN7	HP:0000545	Myopia
7109	TRAPPC10	HP:0002465	Poor speech
7109	TRAPPC10	HP:0010864	Intellectual disability, severe
7109	TRAPPC10	HP:0001274	Agenesis of corpus callosum
7109	TRAPPC10	HP:0001250	Seizure
7109	TRAPPC10	HP:0001252	Hypotonia
7109	TRAPPC10	HP:0001263	Global developmental delay
7109	TRAPPC10	HP:0007333	Hypoplasia of the frontal lobes
7109	TRAPPC10	HP:0002515	Waddling gait
7109	TRAPPC10	HP:0000076	Vesicoureteral reflux
7109	TRAPPC10	HP:0001347	Hyperreflexia
7109	TRAPPC10	HP:0001344	Absent speech
7109	TRAPPC10	HP:0000007	Autosomal recessive inheritance
7109	TRAPPC10	HP:0001302	Pachygyria
7109	TRAPPC10	HP:0000122	Unilateral renal agenesis
7109	TRAPPC10	HP:0002119	Ventriculomegaly
7109	TRAPPC10	HP:0002282	Gray matter heterotopia
7109	TRAPPC10	HP:0000664	Synophrys
7109	TRAPPC10	HP:0004322	Short stature
7109	TRAPPC10	HP:0031936	Delayed ability to walk
7109	TRAPPC10	HP:0000750	Delayed speech and language development
7109	TRAPPC10	HP:0000718	Aggressive behavior
7109	TRAPPC10	HP:0011463	Childhood onset
7109	TRAPPC10	HP:0003103	Abnormal cortical bone morphology
7109	TRAPPC10	HP:0000252	Microcephaly
7109	TRAPPC10	HP:0000219	Thin upper lip vermilion
7109	TRAPPC10	HP:0001510	Growth delay
7109	TRAPPC10	HP:0000340	Sloping forehead
7109	TRAPPC10	HP:0000582	Upslanted palpebral fissure
7112	TMPO	HP:0100578	Lipoatrophy
7112	TMPO	HP:0003457	EMG abnormality
7112	TMPO	HP:0003198	Myopathy
7112	TMPO	HP:0003236	Elevated circulating creatine kinase concentration
7112	TMPO	HP:0000982	Palmoplantar keratoderma
7112	TMPO	HP:0001644	Dilated cardiomyopathy
7112	TMPO	HP:0000407	Sensorineural hearing impairment
7112	TMPO	HP:0001874	Abnormality of neutrophils
7123	CLEC3B	HP:0000006	Autosomal dominant inheritance
7123	CLEC3B	HP:0007663	Reduced visual acuity
7123	CLEC3B	HP:0003596	Middle age onset
7123	CLEC3B	HP:0003584	Late onset
7123	CLEC3B	HP:0000662	Nyctalopia
7123	CLEC3B	HP:0030619	Reduced OCT-measured foveal thickness
7123	CLEC3B	HP:0011506	Choroidal neovascularization
7124	TNF	HP:0000006	Autosomal dominant inheritance
7124	TNF	HP:0001426	Multifactorial inheritance
7124	TNF	HP:0002018	Nausea
7124	TNF	HP:0002013	Vomiting
7124	TNF	HP:0002083	Migraine without aura
7124	TNF	HP:0002099	Asthma
7124	TNF	HP:0002077	Migraine with aura
7124	TNF	HP:0002183	Phonophobia
7124	TNF	HP:4000007	Bronchoconstriction
7124	TNF	HP:0000613	Photophobia
7124	TNF	HP:0032933	Airway hyperresponsiveness
7125	TNNC2	HP:0001270	Motor delay
7125	TNNC2	HP:0001252	Hypotonia
7125	TNNC2	HP:0002515	Waddling gait
7125	TNNC2	HP:0032341	Reduced forced vital capacity
7125	TNNC2	HP:0003803	Type 1 muscle fiber predominance
7125	TNNC2	HP:0001382	Joint hypermobility
7125	TNNC2	HP:0001324	Muscle weakness
7125	TNNC2	HP:0000006	Autosomal dominant inheritance
7125	TNNC2	HP:0003577	Congenital onset
7125	TNNC2	HP:0003557	Increased variability in muscle fiber diameter
7125	TNNC2	HP:0000938	Osteopenia
7125	TNNC2	HP:0001561	Polyhydramnios
7125	TNNC2	HP:0001558	Decreased fetal movement
7125	TNNC2	HP:0012385	Camptodactyly
7125	TNNC2	HP:0001605	Vocal cord paralysis
7125	TNNC2	HP:0005180	Tricuspid regurgitation
7125	TNNC2	HP:0030319	Weakness of facial musculature
7125	TNNC2	HP:0012548	Fatty replacement of skeletal muscle
7128	TNFAIP3	HP:0002583	Colitis
7128	TNFAIP3	HP:0025343	Lupus anticoagulant
7128	TNFAIP3	HP:0000006	Autosomal dominant inheritance
7128	TNFAIP3	HP:0000155	Oral ulcer
7128	TNFAIP3	HP:0012122	Anterior uveitis
7128	TNFAIP3	HP:0002072	Chorea
7128	TNFAIP3	HP:0003493	Antinuclear antibody positivity
7128	TNFAIP3	HP:0003593	Infantile onset
7128	TNFAIP3	HP:0032024	Ileal ulcer
7128	TNFAIP3	HP:0003621	Juvenile onset
7128	TNFAIP3	HP:0001954	Recurrent fever
7128	TNFAIP3	HP:0011463	Childhood onset
7128	TNFAIP3	HP:0011462	Young adult onset
7128	TNFAIP3	HP:0005764	Polyarticular arthritis
7128	TNFAIP3	HP:0003249	Genital ulcers
7128	TNFAIP3	HP:0000988	Skin rash
7128	TNFAIP3	HP:0001888	Lymphopenia
7128	TNFAIP3	HP:0001878	Hemolytic anemia
7128	TNFAIP3	HP:0001873	Thrombocytopenia
7132	TNFRSF1A	HP:0002586	Peritonitis
7132	TNFRSF1A	HP:0025289	Cervical lymphadenopathy
7132	TNFRSF1A	HP:0001369	Arthritis
7132	TNFRSF1A	HP:0001386	Joint swelling
7132	TNFRSF1A	HP:0000006	Autosomal dominant inheritance
7132	TNFRSF1A	HP:0002633	Vasculitis
7132	TNFRSF1A	HP:0002653	Bone pain
7132	TNFRSF1A	HP:0002716	Lymphadenopathy
7132	TNFRSF1A	HP:0002019	Constipation
7132	TNFRSF1A	HP:0002027	Abdominal pain
7132	TNFRSF1A	HP:0002028	Chronic diarrhea
7132	TNFRSF1A	HP:0040313	Oligoarthritis
7132	TNFRSF1A	HP:0003326	Myalgia
7132	TNFRSF1A	HP:0002014	Diarrhea
7132	TNFRSF1A	HP:0002013	Vomiting
7132	TNFRSF1A	HP:0100539	Periorbital edema
7132	TNFRSF1A	HP:0100537	Fasciitis
7132	TNFRSF1A	HP:0002076	Migraine
7132	TNFRSF1A	HP:0030953	Conjunctival hyperemia
7132	TNFRSF1A	HP:0002102	Pleuritis
7132	TNFRSF1A	HP:0003401	Paresthesia
7132	TNFRSF1A	HP:0002240	Hepatomegaly
7132	TNFRSF1A	HP:0002239	Gastrointestinal hemorrhage
7132	TNFRSF1A	HP:0003552	Muscle stiffness
7132	TNFRSF1A	HP:0003565	Elevated erythrocyte sedimentation rate
7132	TNFRSF1A	HP:0100781	Abnormal sacroiliac joint morphology
7132	TNFRSF1A	HP:0100776	Recurrent pharyngitis
7132	TNFRSF1A	HP:0100796	Orchitis
7132	TNFRSF1A	HP:0100749	Chest pain
7132	TNFRSF1A	HP:0001055	Erysipelas
7132	TNFRSF1A	HP:0001034	Hypermelanotic macule
7132	TNFRSF1A	HP:0002321	Vertigo
7132	TNFRSF1A	HP:0002315	Headache
7132	TNFRSF1A	HP:0100658	Cellulitis
7132	TNFRSF1A	HP:0100614	Myositis
7132	TNFRSF1A	HP:0010783	Erythema
7132	TNFRSF1A	HP:0006824	Cranial nerve paralysis
7132	TNFRSF1A	HP:4000041	AA amyloidosis
7132	TNFRSF1A	HP:0001974	Leukocytosis
7132	TNFRSF1A	HP:0001954	Recurrent fever
7132	TNFRSF1A	HP:0012733	Macule
7132	TNFRSF1A	HP:0000708	Atypical behavior
7132	TNFRSF1A	HP:0005764	Polyarticular arthritis
7132	TNFRSF1A	HP:0045086	Knee joint hypermobility
7132	TNFRSF1A	HP:0000978	Bruising susceptibility
7132	TNFRSF1A	HP:0000988	Skin rash
7132	TNFRSF1A	HP:0000934	Chondrocalcinosis
7132	TNFRSF1A	HP:0040186	Maculopapular exanthema
7132	TNFRSF1A	HP:0012280	Hepatic amyloidosis
7132	TNFRSF1A	HP:0002815	Abnormality of the knee
7132	TNFRSF1A	HP:0002829	Arthralgia
7132	TNFRSF1A	HP:0005214	Intestinal obstruction
7132	TNFRSF1A	HP:0001637	Abnormal myocardium morphology
7132	TNFRSF1A	HP:0001701	Pericarditis
7132	TNFRSF1A	HP:0012450	Chronic constipation
7132	TNFRSF1A	HP:0001744	Splenomegaly
7132	TNFRSF1A	HP:0000509	Conjunctivitis
7132	TNFRSF1A	HP:0011227	Elevated circulating C-reactive protein concentration
7132	TNFRSF1A	HP:0000554	Uveitis
7133	TNFRSF1B	HP:0007400	Irregular hyperpigmentation
7133	TNFRSF1B	HP:0002665	Lymphoma
7133	TNFRSF1B	HP:0001337	Tremor
7133	TNFRSF1B	HP:0012192	Cutaneous T-cell lymphoma
7133	TNFRSF1B	HP:0002716	Lymphadenopathy
7133	TNFRSF1B	HP:0002721	Immunodeficiency
7133	TNFRSF1B	HP:0002103	Abnormal pleura morphology
7133	TNFRSF1B	HP:0002240	Hepatomegaly
7133	TNFRSF1B	HP:0008404	Nail dystrophy
7133	TNFRSF1B	HP:0010701	Abnormal immunoglobulin level
7133	TNFRSF1B	HP:0100725	Lichenification
7133	TNFRSF1B	HP:0100758	Gangrene
7133	TNFRSF1B	HP:0001053	Hypopigmented skin patches
7133	TNFRSF1B	HP:0001029	Poikiloderma
7133	TNFRSF1B	HP:0001019	Erythroderma
7133	TNFRSF1B	HP:0200035	Skin plaque
7133	TNFRSF1B	HP:0009830	Peripheral neuropathy
7133	TNFRSF1B	HP:0200042	Skin ulcer
7133	TNFRSF1B	HP:0010783	Erythema
7133	TNFRSF1B	HP:0005561	Abnormality of bone marrow cell morphology
7133	TNFRSF1B	HP:0000656	Ectropion
7133	TNFRSF1B	HP:0001999	Abnormal facial shape
7133	TNFRSF1B	HP:0004332	Abnormal lymphocyte morphology
7133	TNFRSF1B	HP:0003202	Skeletal muscle atrophy
7133	TNFRSF1B	HP:0000989	Pruritus
7133	TNFRSF1B	HP:0000988	Skin rash
7133	TNFRSF1B	HP:0000982	Palmoplantar keratoderma
7133	TNFRSF1B	HP:0000958	Dry skin
7133	TNFRSF1B	HP:0000969	Edema
7133	TNFRSF1B	HP:0000964	Eczema
7133	TNFRSF1B	HP:0000962	Hyperkeratosis
7133	TNFRSF1B	HP:0008069	Neoplasm of the skin
7133	TNFRSF1B	HP:0001597	Abnormality of the nail
7133	TNFRSF1B	HP:0001596	Alopecia
7133	TNFRSF1B	HP:0000271	Abnormality of the face
7133	TNFRSF1B	HP:0000492	Abnormal eyelid morphology
7133	TNFRSF1B	HP:0001744	Splenomegaly
7134	TNNC1	HP:0001279	Syncope
7134	TNNC1	HP:0000006	Autosomal dominant inheritance
7134	TNNC1	HP:0002094	Dyspnea
7134	TNNC1	HP:0100578	Lipoatrophy
7134	TNNC1	HP:0011711	Left anterior fascicular block
7134	TNNC1	HP:0011712	Right bundle branch block
7134	TNNC1	HP:0003457	EMG abnormality
7134	TNNC1	HP:0003596	Middle age onset
7134	TNNC1	HP:0003584	Late onset
7134	TNNC1	HP:0200128	Biventricular hypertrophy
7134	TNNC1	HP:0100749	Chest pain
7134	TNNC1	HP:0003621	Juvenile onset
7134	TNNC1	HP:0012664	Reduced left ventricular ejection fraction
7134	TNNC1	HP:0011462	Young adult onset
7134	TNNC1	HP:0003198	Myopathy
7134	TNNC1	HP:0003236	Elevated circulating creatine kinase concentration
7134	TNNC1	HP:0000982	Palmoplantar keratoderma
7134	TNNC1	HP:0012250	ST segment depression
7134	TNNC1	HP:0005110	Atrial fibrillation
7134	TNNC1	HP:0002875	Exertional dyspnea
7134	TNNC1	HP:0005157	Concentric hypertrophic cardiomyopathy
7134	TNNC1	HP:0001681	Angina pectoris
7134	TNNC1	HP:0001645	Sudden cardiac death
7134	TNNC1	HP:0001644	Dilated cardiomyopathy
7134	TNNC1	HP:0001663	Ventricular fibrillation
7134	TNNC1	HP:0001639	Hypertrophic cardiomyopathy
7134	TNNC1	HP:0001635	Congestive heart failure
7134	TNNC1	HP:0000407	Sensorineural hearing impairment
7134	TNNC1	HP:0001874	Abnormality of neutrophils
7136	TNNI2	HP:0001181	Adducted thumb
7136	TNNI2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
7136	TNNI2	HP:0100830	Round ear
7136	TNNI2	HP:0006109	Absent phalangeal crease
7136	TNNI2	HP:0001387	Joint stiffness
7136	TNNI2	HP:0000006	Autosomal dominant inheritance
7136	TNNI2	HP:0002650	Scoliosis
7136	TNNI2	HP:0000160	Narrow mouth
7136	TNNI2	HP:0007598	Bilateral single transverse palmar creases
7136	TNNI2	HP:0009465	Ulnar deviation of finger
7136	TNNI2	HP:0003422	Vertebral segmentation defect
7136	TNNI2	HP:0100490	Camptodactyly of finger
7136	TNNI2	HP:0010557	Overlapping fingers
7136	TNNI2	HP:0008368	Tarsal synostosis
7136	TNNI2	HP:0004322	Short stature
7136	TNNI2	HP:0003049	Ulnar deviation of the wrist
7136	TNNI2	HP:0005684	Distal arthrogryposis
7136	TNNI2	HP:0003272	Abnormal hip bone morphology
7136	TNNI2	HP:0000275	Narrow face
7136	TNNI2	HP:0002804	Arthrogryposis multiplex congenita
7136	TNNI2	HP:0000218	High palate
7136	TNNI2	HP:0006501	Aplasia/Hypoplasia of the radius
7136	TNNI2	HP:0000343	Long philtrum
7136	TNNI2	HP:0000347	Micrognathia
7136	TNNI2	HP:0000325	Triangular face
7136	TNNI2	HP:0000303	Mandibular prognathia
7136	TNNI2	HP:0005272	Prominent nasolabial fold
7136	TNNI2	HP:0000494	Downslanted palpebral fissures
7136	TNNI2	HP:0000470	Short neck
7136	TNNI2	HP:0000465	Webbed neck
7136	TNNI2	HP:0000411	Protruding ear
7136	TNNI2	HP:0001762	Talipes equinovarus
7136	TNNI2	HP:0000431	Wide nasal bridge
7136	TNNI2	HP:0001848	Calcaneovalgus deformity
7136	TNNI2	HP:0001840	Metatarsus adductus
7136	TNNI2	HP:0001838	Rocker bottom foot
7136	TNNI2	HP:0000598	Abnormality of the ear
7136	TNNI2	HP:0001883	Talipes
7137	TNNI3	HP:0001297	Stroke
7137	TNNI3	HP:0001279	Syncope
7137	TNNI3	HP:0008897	Postnatal growth retardation
7137	TNNI3	HP:0000007	Autosomal recessive inheritance
7137	TNNI3	HP:0000006	Autosomal dominant inheritance
7137	TNNI3	HP:0033755	Increased left ventricular end-diastolic volume
7137	TNNI3	HP:0033764	Death in middle age
7137	TNNI3	HP:0031295	Left atrial enlargement
7137	TNNI3	HP:0002094	Dyspnea
7137	TNNI3	HP:0030950	Pulmonary venous hypertension
7137	TNNI3	HP:0100578	Lipoatrophy
7137	TNNI3	HP:0100598	Pulmonary edema
7137	TNNI3	HP:0002119	Ventriculomegaly
7137	TNNI3	HP:0003457	EMG abnormality
7137	TNNI3	HP:0003596	Middle age onset
7137	TNNI3	HP:0002240	Hepatomegaly
7137	TNNI3	HP:0003581	Adult onset
7137	TNNI3	HP:0002205	Recurrent respiratory infections
7137	TNNI3	HP:0003621	Juvenile onset
7137	TNNI3	HP:0001907	Thromboembolism
7137	TNNI3	HP:0012666	Severely reduced left ventricular ejection fraction
7137	TNNI3	HP:0031992	Apical hypertrophic cardiomyopathy
7137	TNNI3	HP:0011462	Young adult onset
7137	TNNI3	HP:0012764	Orthopnea
7137	TNNI3	HP:0003198	Myopathy
7137	TNNI3	HP:0030718	Right atrial enlargement
7137	TNNI3	HP:0003236	Elevated circulating creatine kinase concentration
7137	TNNI3	HP:0000982	Palmoplantar keratoderma
7137	TNNI3	HP:0005115	Supraventricular arrhythmia
7137	TNNI3	HP:0005110	Atrial fibrillation
7137	TNNI3	HP:0031318	Myofiber disarray
7137	TNNI3	HP:0031319	Cardiomyocyte hypertrophy
7137	TNNI3	HP:0031329	Interstitial cardiac fibrosis
7137	TNNI3	HP:0012398	Peripheral edema
7137	TNNI3	HP:0005180	Tricuspid regurgitation
7137	TNNI3	HP:0005162	Abnormal left ventricular function
7137	TNNI3	HP:0001645	Sudden cardiac death
7137	TNNI3	HP:0001644	Dilated cardiomyopathy
7137	TNNI3	HP:0001653	Mitral regurgitation
7137	TNNI3	HP:0001639	Hypertrophic cardiomyopathy
7137	TNNI3	HP:0001635	Congestive heart failure
7137	TNNI3	HP:0001723	Restrictive cardiomyopathy
7137	TNNI3	HP:0000407	Sensorineural hearing impairment
7137	TNNI3	HP:0001716	Wolff-Parkinson-White syndrome
7137	TNNI3	HP:0001712	Left ventricular hypertrophy
7137	TNNI3	HP:0001714	Ventricular hypertrophy
7137	TNNI3	HP:0001874	Abnormality of neutrophils
7138	TNNT1	HP:0003798	Nemaline bodies
7138	TNNT1	HP:0020203	Z-band streaming
7138	TNNT1	HP:0001270	Motor delay
7138	TNNT1	HP:0001249	Intellectual disability
7138	TNNT1	HP:0003803	Type 1 muscle fiber predominance
7138	TNNT1	HP:0000007	Autosomal recessive inheritance
7138	TNNT1	HP:0001337	Tremor
7138	TNNT1	HP:0001319	Neonatal hypotonia
7138	TNNT1	HP:0002747	Respiratory insufficiency due to muscle weakness
7138	TNNT1	HP:0003323	Progressive muscle weakness
7138	TNNT1	HP:0002093	Respiratory insufficiency
7138	TNNT1	HP:0003458	EMG: myopathic abnormalities
7138	TNNT1	HP:0002194	Delayed gross motor development
7138	TNNT1	HP:0007126	Proximal amyotrophy
7138	TNNT1	HP:0003623	Neonatal onset
7138	TNNT1	HP:0003044	Shoulder flexion contracture
7138	TNNT1	HP:0000768	Pectus carinatum
7138	TNNT1	HP:0003198	Myopathy
7138	TNNT1	HP:0003184	Decreased hip abduction
7138	TNNT1	HP:0003273	Hip contracture
7139	TNNT2	HP:0033568	Left axis deviation
7139	TNNT2	HP:0033534	Increased circulating brain natriuretic peptide concentration
7139	TNNT2	HP:0001297	Stroke
7139	TNNT2	HP:0001279	Syncope
7139	TNNT2	HP:0008897	Postnatal growth retardation
7139	TNNT2	HP:0000006	Autosomal dominant inheritance
7139	TNNT2	HP:0033755	Increased left ventricular end-diastolic volume
7139	TNNT2	HP:0002615	Hypotension
7139	TNNT2	HP:0031295	Left atrial enlargement
7139	TNNT2	HP:0002094	Dyspnea
7139	TNNT2	HP:0030950	Pulmonary venous hypertension
7139	TNNT2	HP:0100578	Lipoatrophy
7139	TNNT2	HP:0011712	Right bundle branch block
7139	TNNT2	HP:0100598	Pulmonary edema
7139	TNNT2	HP:0003457	EMG abnormality
7139	TNNT2	HP:0003596	Middle age onset
7139	TNNT2	HP:0003593	Infantile onset
7139	TNNT2	HP:0002240	Hepatomegaly
7139	TNNT2	HP:0002205	Recurrent respiratory infections
7139	TNNT2	HP:0003621	Juvenile onset
7139	TNNT2	HP:0004942	Aortic aneurysm
7139	TNNT2	HP:0001907	Thromboembolism
7139	TNNT2	HP:0012664	Reduced left ventricular ejection fraction
7139	TNNT2	HP:0030682	Left ventricular noncompaction
7139	TNNT2	HP:0011463	Childhood onset
7139	TNNT2	HP:0011462	Young adult onset
7139	TNNT2	HP:0011461	Fetal onset
7139	TNNT2	HP:0012764	Orthopnea
7139	TNNT2	HP:0003198	Myopathy
7139	TNNT2	HP:0030718	Right atrial enlargement
7139	TNNT2	HP:0003236	Elevated circulating creatine kinase concentration
7139	TNNT2	HP:0000982	Palmoplantar keratoderma
7139	TNNT2	HP:0012249	Abnormal ST segment
7139	TNNT2	HP:0005144	Ventricular septal hypertrophy
7139	TNNT2	HP:0005115	Supraventricular arrhythmia
7139	TNNT2	HP:0005110	Atrial fibrillation
7139	TNNT2	HP:0031329	Interstitial cardiac fibrosis
7139	TNNT2	HP:0031333	Myocardial sarcomeric disarray
7139	TNNT2	HP:0012398	Peripheral edema
7139	TNNT2	HP:0005180	Tricuspid regurgitation
7139	TNNT2	HP:0005162	Abnormal left ventricular function
7139	TNNT2	HP:0001688	Sinus bradycardia
7139	TNNT2	HP:0001681	Angina pectoris
7139	TNNT2	HP:0001645	Sudden cardiac death
7139	TNNT2	HP:0001644	Dilated cardiomyopathy
7139	TNNT2	HP:0001657	Prolonged QT interval
7139	TNNT2	HP:0001653	Mitral regurgitation
7139	TNNT2	HP:0001639	Hypertrophic cardiomyopathy
7139	TNNT2	HP:0001635	Congestive heart failure
7139	TNNT2	HP:0001723	Restrictive cardiomyopathy
7139	TNNT2	HP:0000407	Sensorineural hearing impairment
7139	TNNT2	HP:0001712	Left ventricular hypertrophy
7139	TNNT2	HP:0001874	Abnormality of neutrophils
7140	TNNT3	HP:0001182	Tapered finger
7140	TNNT3	HP:0001181	Adducted thumb
7140	TNNT3	HP:0001156	Brachydactyly
7140	TNNT3	HP:0100830	Round ear
7140	TNNT3	HP:0001387	Joint stiffness
7140	TNNT3	HP:0000006	Autosomal dominant inheritance
7140	TNNT3	HP:0002650	Scoliosis
7140	TNNT3	HP:0000160	Narrow mouth
7140	TNNT3	HP:0007598	Bilateral single transverse palmar creases
7140	TNNT3	HP:0009465	Ulnar deviation of finger
7140	TNNT3	HP:0003422	Vertebral segmentation defect
7140	TNNT3	HP:0100490	Camptodactyly of finger
7140	TNNT3	HP:0010557	Overlapping fingers
7140	TNNT3	HP:0003577	Congenital onset
7140	TNNT3	HP:0008368	Tarsal synostosis
7140	TNNT3	HP:0010055	Broad hallux
7140	TNNT3	HP:0004322	Short stature
7140	TNNT3	HP:0003049	Ulnar deviation of the wrist
7140	TNNT3	HP:0003272	Abnormal hip bone morphology
7140	TNNT3	HP:0000275	Narrow face
7140	TNNT3	HP:0002827	Hip dislocation
7140	TNNT3	HP:0030084	Clinodactyly
7140	TNNT3	HP:0000218	High palate
7140	TNNT3	HP:0006501	Aplasia/Hypoplasia of the radius
7140	TNNT3	HP:0012385	Camptodactyly
7140	TNNT3	HP:0000347	Micrognathia
7140	TNNT3	HP:0000325	Triangular face
7140	TNNT3	HP:0000470	Short neck
7140	TNNT3	HP:0000465	Webbed neck
7140	TNNT3	HP:0001772	Talipes equinovalgus
7140	TNNT3	HP:0000411	Protruding ear
7140	TNNT3	HP:0001762	Talipes equinovarus
7140	TNNT3	HP:0000431	Wide nasal bridge
7140	TNNT3	HP:0001840	Metatarsus adductus
7140	TNNT3	HP:0001852	Sandal gap
7140	TNNT3	HP:0001838	Rocker bottom foot
7140	TNNT3	HP:0001831	Short toe
7140	TNNT3	HP:0001883	Talipes
7143	TNR	HP:0007325	Generalized dystonia
7143	TNR	HP:0007305	CNS demyelination
7143	TNR	HP:0001270	Motor delay
7143	TNR	HP:0001285	Spastic tetraparesis
7143	TNR	HP:0001266	Choreoathetosis
7143	TNR	HP:0001260	Dysarthria
7143	TNR	HP:0001263	Global developmental delay
7143	TNR	HP:0001257	Spasticity
7143	TNR	HP:0007350	Hyperreflexia in upper limbs
7143	TNR	HP:0002540	Inability to walk
7143	TNR	HP:0001347	Hyperreflexia
7143	TNR	HP:0001332	Dystonia
7143	TNR	HP:0033725	Thin corpus callosum
7143	TNR	HP:0001338	Partial agenesis of the corpus callosum
7143	TNR	HP:0000007	Autosomal recessive inheritance
7143	TNR	HP:0001300	Parkinsonism
7143	TNR	HP:0008959	Distal upper limb muscle weakness
7143	TNR	HP:0008936	Axial hypotonia
7143	TNR	HP:0002188	Delayed CNS myelination
7143	TNR	HP:0002186	Apraxia
7143	TNR	HP:0002179	Opisthotonus
7143	TNR	HP:0003593	Infantile onset
7143	TNR	HP:0002395	Lower limb hyperreflexia
7143	TNR	HP:0007149	Distal upper limb amyotrophy
7143	TNR	HP:0000750	Delayed speech and language development
7143	TNR	HP:0000514	Slow saccadic eye movements
7148	TNXB	HP:0003701	Proximal muscle weakness
7148	TNXB	HP:0001297	Stroke
7148	TNXB	HP:0001252	Hypotonia
7148	TNXB	HP:0000081	Duplicated collecting system
7148	TNXB	HP:0000061	Ambiguous genitalia, female
7148	TNXB	HP:0000076	Vesicoureteral reflux
7148	TNXB	HP:0001382	Joint hypermobility
7148	TNXB	HP:0001324	Muscle weakness
7148	TNXB	HP:0000010	Recurrent urinary tract infections
7148	TNXB	HP:0000007	Autosomal recessive inheritance
7148	TNXB	HP:0000006	Autosomal dominant inheritance
7148	TNXB	HP:0000122	Unilateral renal agenesis
7148	TNXB	HP:0002036	Hiatus hernia
7148	TNXB	HP:0003326	Myalgia
7148	TNXB	HP:0002239	Gastrointestinal hemorrhage
7148	TNXB	HP:0003555	Muscle fiber splitting
7148	TNXB	HP:0001058	Poor wound healing
7148	TNXB	HP:0001065	Striae distensae
7148	TNXB	HP:0009830	Peripheral neuropathy
7148	TNXB	HP:0001075	Atrophic scars
7148	TNXB	HP:0032153	Joint subluxation
7148	TNXB	HP:0007126	Proximal amyotrophy
7148	TNXB	HP:0009025	Increased connective tissue
7148	TNXB	HP:0005692	Joint hyperflexibility
7148	TNXB	HP:0000763	Sensory neuropathy
7148	TNXB	HP:0004416	Precocious atherosclerosis
7148	TNXB	HP:0000835	Adrenal hypoplasia
7148	TNXB	HP:0000813	Bicornuate uterus
7148	TNXB	HP:0003202	Skeletal muscle atrophy
7148	TNXB	HP:0003298	Spina bifida occulta
7148	TNXB	HP:0000978	Bruising susceptibility
7148	TNXB	HP:0000977	Soft skin
7148	TNXB	HP:0000974	Hyperextensible skin
7148	TNXB	HP:0000963	Thin skin
7148	TNXB	HP:0011675	Arrhythmia
7148	TNXB	HP:0002829	Arthralgia
7148	TNXB	HP:0012378	Fatigue
7148	TNXB	HP:0001634	Mitral valve prolapse
7148	TNXB	HP:0031655	Quadricuspid aortic valve
7153	TOP2A	HP:0011976	Elevated urinary catecholamines
7153	TOP2A	HP:0004375	Neoplasm of the nervous system
7156	TOP3A	HP:0003758	Reduced subcutaneous adipose tissue
7156	TOP3A	HP:0003722	Neck flexor weakness
7156	TOP3A	HP:0003701	Proximal muscle weakness
7156	TOP3A	HP:0001272	Cerebellar atrophy
7156	TOP3A	HP:0001251	Ataxia
7156	TOP3A	HP:0001260	Dysarthria
7156	TOP3A	HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange
7156	TOP3A	HP:0025300	Malar rash
7156	TOP3A	HP:0000007	Autosomal recessive inheritance
7156	TOP3A	HP:0001310	Dysmetria
7156	TOP3A	HP:0002719	Recurrent infections
7156	TOP3A	HP:0002020	Gastroesophageal reflux
7156	TOP3A	HP:0002015	Dysphagia
7156	TOP3A	HP:0002136	Broad-based gait
7156	TOP3A	HP:0003584	Late onset
7156	TOP3A	HP:0003546	Exercise intolerance
7156	TOP3A	HP:0000651	Diplopia
7156	TOP3A	HP:0011342	Mild global developmental delay
7156	TOP3A	HP:0012663	Mildly reduced left ventricular ejection fraction
7156	TOP3A	HP:0004325	Decreased body weight
7156	TOP3A	HP:0004322	Short stature
7156	TOP3A	HP:0030674	Antenatal onset
7156	TOP3A	HP:0000763	Sensory neuropathy
7156	TOP3A	HP:0011469	Nasal regurgitation
7156	TOP3A	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
7156	TOP3A	HP:0003236	Elevated circulating creatine kinase concentration
7156	TOP3A	HP:0000957	Cafe-au-lait spot
7156	TOP3A	HP:0011675	Arrhythmia
7156	TOP3A	HP:0000252	Microcephaly
7156	TOP3A	HP:0001511	Intrauterine growth retardation
7156	TOP3A	HP:0001644	Dilated cardiomyopathy
7156	TOP3A	HP:0000407	Sensorineural hearing impairment
7156	TOP3A	HP:0000508	Ptosis
7156	TOP3A	HP:0000590	Progressive external ophthalmoplegia
7157	TP53	HP:0025134	Increased serum estradiol
7157	TP53	HP:0002488	Acute leukemia
7157	TP53	HP:0001123	Visual field defect
7157	TP53	HP:0009919	Retinoblastoma
7157	TP53	HP:0010885	Avascular necrosis
7157	TP53	HP:0001297	Stroke
7157	TP53	HP:0025269	Panic attack
7157	TP53	HP:0001276	Hypertonia
7157	TP53	HP:0001250	Seizure
7157	TP53	HP:0001249	Intellectual disability
7157	TP53	HP:0001263	Global developmental delay
7157	TP53	HP:0007378	Neoplasm of the gastrointestinal tract
7157	TP53	HP:0010982	Polygenic inheritance
7157	TP53	HP:0025383	Dorsocervical fat pad
7157	TP53	HP:0000080	Abnormality of reproductive system physiology
7157	TP53	HP:0025380	Increased circulating androstenedione concentration
7157	TP53	HP:0012030	Increased urinary cortisol level
7157	TP53	HP:0001386	Joint swelling
7157	TP53	HP:0025318	Ovarian carcinoma
7157	TP53	HP:0002690	Large sella turcica
7157	TP53	HP:0000029	Testicular atrophy
7157	TP53	HP:0002664	Neoplasm
7157	TP53	HP:0001324	Muscle weakness
7157	TP53	HP:0002669	Osteosarcoma
7157	TP53	HP:0002667	Nephroblastoma
7157	TP53	HP:0002665	Lymphoma
7157	TP53	HP:0000006	Autosomal dominant inheritance
7157	TP53	HP:0012189	Hodgkin lymphoma
7157	TP53	HP:0012174	Glioblastoma multiforme
7157	TP53	HP:0000141	Amenorrhea
7157	TP53	HP:0012125	Prostate cancer
7157	TP53	HP:0012126	Stomach cancer
7157	TP53	HP:0012133	Erythroid hypoplasia
7157	TP53	HP:0025436	Elevated serum 11-deoxycortisol
7157	TP53	HP:0025435	Increased circulating lactate dehydrogenase concentration
7157	TP53	HP:0000135	Hypogonadism
7157	TP53	HP:0002797	Osteolysis
7157	TP53	HP:0410067	Increased level of L-fucose in urine
7157	TP53	HP:0031284	Flushing
7157	TP53	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
7157	TP53	HP:0500011	Moon facies
7157	TP53	HP:0007588	Reticular hyperpigmentation
7157	TP53	HP:0001428	Somatic mutation
7157	TP53	HP:0002756	Pathologic fracture
7157	TP53	HP:0001433	Hepatosplenomegaly
7157	TP53	HP:0001402	Hepatocellular carcinoma
7157	TP53	HP:0002750	Delayed skeletal maturation
7157	TP53	HP:0002745	Oral leukoplakia
7157	TP53	HP:0001413	Micronodular cirrhosis
7157	TP53	HP:0002716	Lymphadenopathy
7157	TP53	HP:0002721	Immunodeficiency
7157	TP53	HP:0002018	Nausea
7157	TP53	HP:0002017	Nausea and vomiting
7157	TP53	HP:0002027	Abdominal pain
7157	TP53	HP:0002013	Vomiting
7157	TP53	HP:0100526	Neoplasm of the lung
7157	TP53	HP:0002086	Abnormality of the respiratory system
7157	TP53	HP:0100543	Cognitive impairment
7157	TP53	HP:0002069	Bilateral tonic-clonic seizure
7157	TP53	HP:0002039	Anorexia
7157	TP53	HP:0011748	Adrenocorticotropic hormone deficiency
7157	TP53	HP:0100576	Amaurosis fugax
7157	TP53	HP:0100592	Peritoneal abscess
7157	TP53	HP:0040270	Impaired glucose tolerance
7157	TP53	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
7157	TP53	HP:0003418	Back pain
7157	TP53	HP:0011875	Abnormal platelet morphology
7157	TP53	HP:0008221	Adrenal hyperplasia
7157	TP53	HP:0003401	Paresthesia
7157	TP53	HP:0008291	Pituitary corticotropic cell adenoma
7157	TP53	HP:0009592	Astrocytoma
7157	TP53	HP:0003593	Infantile onset
7157	TP53	HP:0002254	Intermittent diarrhea
7157	TP53	HP:0003581	Adult onset
7157	TP53	HP:0002209	Sparse scalp hair
7157	TP53	HP:0002206	Pulmonary fibrosis
7157	TP53	HP:0100768	Choriocarcinoma
7157	TP53	HP:0008404	Nail dystrophy
7157	TP53	HP:0100787	Prostate neoplasm
7157	TP53	HP:0009726	Renal neoplasm
7157	TP53	HP:0100743	Neoplasm of the rectum
7157	TP53	HP:0100749	Chest pain
7157	TP53	HP:0011999	Paranoia
7157	TP53	HP:0011974	Myelofibrosis
7157	TP53	HP:0004808	Acute myeloid leukemia
7157	TP53	HP:0001058	Poor wound healing
7157	TP53	HP:0001050	Plethora
7157	TP53	HP:0025017	Capillary fragility
7157	TP53	HP:0001065	Striae distensae
7157	TP53	HP:0001061	Acne
7157	TP53	HP:0001007	Hirsutism
7157	TP53	HP:0002354	Memory impairment
7157	TP53	HP:0002315	Headache
7157	TP53	HP:0002326	Transient ischemic attack
7157	TP53	HP:0200022	Choroid plexus papilloma
7157	TP53	HP:0100659	Abnormal cerebral vascular morphology
7157	TP53	HP:0100605	Neoplasm of the larynx
7157	TP53	HP:0200063	Colorectal polyposis
7157	TP53	HP:0100615	Ovarian neoplasm
7157	TP53	HP:0100630	Neoplasia of the nasopharynx
7157	TP53	HP:0200042	Skin ulcer
7157	TP53	HP:0001085	Papilledema
7157	TP53	HP:0010788	Testicular neoplasm
7157	TP53	HP:0007126	Proximal amyotrophy
7157	TP53	HP:0010741	Pedal edema
7157	TP53	HP:0003623	Neonatal onset
7157	TP53	HP:0004936	Venous thrombosis
7157	TP53	HP:0005513	Increased megakaryocyte count
7157	TP53	HP:0031845	Abnormal libido
7157	TP53	HP:0031891	Decreased eosinophil count
7157	TP53	HP:0005584	Renal cell carcinoma
7157	TP53	HP:0005561	Abnormality of bone marrow cell morphology
7157	TP53	HP:0001962	Palpitations
7157	TP53	HP:0001974	Leukocytosis
7157	TP53	HP:0001945	Fever
7157	TP53	HP:0001956	Truncal obesity
7157	TP53	HP:0001939	Abnormality of metabolism/homeostasis
7157	TP53	HP:0001909	Leukemia
7157	TP53	HP:0001903	Anemia
7157	TP53	HP:0011370	Recurrent cutaneous fungal infections
7157	TP53	HP:0012639	Abnormal nervous system morphology
7157	TP53	HP:0004324	Increased body weight
7157	TP53	HP:0004322	Short stature
7157	TP53	HP:0003002	Breast carcinoma
7157	TP53	HP:0003003	Colon cancer
7157	TP53	HP:0004313	Decreased circulating antibody level
7157	TP53	HP:0004389	Intestinal pseudo-obstruction
7157	TP53	HP:0004396	Poor appetite
7157	TP53	HP:0004374	Hemiplegia/hemiparesis
7157	TP53	HP:0003010	Prolonged bleeding time
7157	TP53	HP:0012743	Abdominal obesity
7157	TP53	HP:0100006	Neoplasm of the central nervous system
7157	TP53	HP:0000737	Irritability
7157	TP53	HP:0000739	Anxiety
7157	TP53	HP:0000716	Depression
7157	TP53	HP:0000712	Emotional lability
7157	TP53	HP:0000726	Dementia
7157	TP53	HP:0000725	Psychotic episodes
7157	TP53	HP:0000709	Psychosis
7157	TP53	HP:0000708	Atypical behavior
7157	TP53	HP:0003110	Abnormality of urine homeostasis
7157	TP53	HP:0003118	Increased circulating cortisol level
7157	TP53	HP:0004420	Arterial thrombosis
7157	TP53	HP:0003154	Increased circulating ACTH level
7157	TP53	HP:0003155	Elevated circulating alkaline phosphatase concentration
7157	TP53	HP:0000876	Oligomenorrhea
7157	TP53	HP:0000859	Hyperaldosteronism
7157	TP53	HP:0000869	Secondary amenorrhea
7157	TP53	HP:0000819	Diabetes mellitus
7157	TP53	HP:0000822	Hypertension
7157	TP53	HP:0010284	Intra-oral hyperpigmentation
7157	TP53	HP:0045040	Abnormal lactate dehydrogenase level
7157	TP53	HP:0000998	Hypertrichosis
7157	TP53	HP:0000979	Purpura
7157	TP53	HP:0000975	Hyperhidrosis
7157	TP53	HP:0000978	Bruising susceptibility
7157	TP53	HP:0000953	Hyperpigmentation of the skin
7157	TP53	HP:0000952	Jaundice
7157	TP53	HP:0000963	Thin skin
7157	TP53	HP:0000939	Osteoporosis
7157	TP53	HP:0000944	Abnormal metaphysis morphology
7157	TP53	HP:0012288	Neoplasm of head and neck
7157	TP53	HP:0031413	Short telomere length
7157	TP53	HP:0030070	Central primitive neuroectodermal tumor
7157	TP53	HP:0030078	Lung adenocarcinoma
7157	TP53	HP:0000238	Hydrocephalus
7157	TP53	HP:0002896	Neoplasm of the liver
7157	TP53	HP:0000252	Microcephaly
7157	TP53	HP:0002894	Neoplasm of the pancreas
7157	TP53	HP:0002890	Thyroid carcinoma
7157	TP53	HP:0002891	Uterine leiomyosarcoma
7157	TP53	HP:0002888	Ependymoma
7157	TP53	HP:0002885	Medulloblastoma
7157	TP53	HP:0002861	Melanoma
7157	TP53	HP:0002859	Rhabdomyosarcoma
7157	TP53	HP:0002863	Myelodysplasia
7157	TP53	HP:0031364	Ecchymosis
7157	TP53	HP:0001510	Growth delay
7157	TP53	HP:0007807	Optic nerve compression
7157	TP53	HP:0030200	Fatiguable weakness of proximal limb muscles
7157	TP53	HP:0011027	Abnormal fallopian tube morphology
7157	TP53	HP:0006572	Subacute progressive viral hepatitis
7157	TP53	HP:0005249	Functional intestinal obstruction
7157	TP53	HP:0002910	Elevated hepatic transaminase
7157	TP53	HP:0002900	Hypokalemia
7157	TP53	HP:0006491	Abnormal tibial metaphysis morphology
7157	TP53	HP:0006489	Abnormal femoral metaphysis morphology
7157	TP53	HP:0012334	Extrahepatic cholestasis
7157	TP53	HP:0001658	Myocardial infarction
7157	TP53	HP:0001626	Abnormality of the cardiovascular system
7157	TP53	HP:0002953	Vertebral compression fracture
7157	TP53	HP:0001738	Exocrine pancreatic insufficiency
7157	TP53	HP:0031589	Suicidal ideation
7157	TP53	HP:0012432	Chronic fatigue
7157	TP53	HP:0012410	Pure red cell aplasia
7157	TP53	HP:0001744	Splenomegaly
7157	TP53	HP:0025709	Intermediate young adult onset
7157	TP53	HP:0006753	Neoplasm of the stomach
7157	TP53	HP:0006740	Transitional cell carcinoma of the bladder
7157	TP53	HP:0006744	Adrenocortical carcinoma
7157	TP53	HP:0006725	Pancreatic adenocarcinoma
7157	TP53	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
7157	TP53	HP:0030406	Primary peritoneal carcinoma
7157	TP53	HP:0006721	Acute lymphoblastic leukemia
7157	TP53	HP:0030448	Soft tissue sarcoma
7157	TP53	HP:0001824	Weight loss
7157	TP53	HP:0000505	Visual impairment
7157	TP53	HP:0030348	Increased circulating androgen concentration
7157	TP53	HP:0001888	Lymphopenia
7157	TP53	HP:0012539	Non-Hodgkin lymphoma
7157	TP53	HP:0030392	Choroid plexus carcinoma
7157	TP53	HP:0001872	Abnormality of thrombocytes
7157	TP53	HP:0012531	Pain
7161	TP73	HP:0001274	Agenesis of corpus callosum
7161	TP73	HP:0001250	Seizure
7161	TP73	HP:0001339	Lissencephaly
7161	TP73	HP:0000007	Autosomal recessive inheritance
7161	TP73	HP:0002098	Respiratory distress
7161	TP73	HP:0002079	Hypoplasia of the corpus callosum
7161	TP73	HP:0002110	Bronchiectasis
7161	TP73	HP:0002205	Recurrent respiratory infections
7161	TP73	HP:0100750	Atelectasis
7161	TP73	HP:0003623	Neonatal onset
7161	TP73	HP:0000389	Chronic otitis media
7161	TP73	HP:0031602	Abnormal mucociliary clearance
7167	TPI1	HP:0001290	Generalized hypotonia
7167	TPI1	HP:0001252	Hypotonia
7167	TPI1	HP:0001265	Hyporeflexia
7167	TPI1	HP:0001263	Global developmental delay
7167	TPI1	HP:0001257	Spasticity
7167	TPI1	HP:0010978	Abnormality of immune system physiology
7167	TPI1	HP:0001332	Dystonia
7167	TPI1	HP:0001324	Muscle weakness
7167	TPI1	HP:0000007	Autosomal recessive inheritance
7167	TPI1	HP:0001337	Tremor
7167	TPI1	HP:0002747	Respiratory insufficiency due to muscle weakness
7167	TPI1	HP:0003323	Progressive muscle weakness
7167	TPI1	HP:0002098	Respiratory distress
7167	TPI1	HP:0002093	Respiratory insufficiency
7167	TPI1	HP:0002059	Cerebral atrophy
7167	TPI1	HP:0004870	Chronic hemolytic anemia
7167	TPI1	HP:0007009	Central nervous system degeneration
7167	TPI1	HP:0002317	Unsteady gait
7167	TPI1	HP:0009830	Peripheral neuropathy
7167	TPI1	HP:0001081	Cholelithiasis
7167	TPI1	HP:0001082	Cholecystitis
7167	TPI1	HP:0003623	Neonatal onset
7167	TPI1	HP:0001972	Macrocytic anemia
7167	TPI1	HP:0000762	Decreased nerve conduction velocity
7167	TPI1	HP:0011421	Death in adolescence
7167	TPI1	HP:0003198	Myopathy
7167	TPI1	HP:0003202	Skeletal muscle atrophy
7167	TPI1	HP:0000952	Jaundice
7167	TPI1	HP:0002808	Kyphosis
7167	TPI1	HP:0002878	Respiratory failure
7167	TPI1	HP:0001562	Oligohydramnios
7167	TPI1	HP:0001522	Death in infancy
7167	TPI1	HP:0001508	Failure to thrive
7167	TPI1	HP:0006597	Diaphragmatic paralysis
7167	TPI1	HP:0006579	Prolonged neonatal jaundice
7167	TPI1	HP:0001639	Hypertrophic cardiomyopathy
7167	TPI1	HP:0001635	Congestive heart failure
7167	TPI1	HP:0001744	Splenomegaly
7167	TPI1	HP:0001895	Normochromic anemia
7167	TPI1	HP:0001897	Normocytic anemia
7167	TPI1	HP:0001878	Hemolytic anemia
7167	TPI1	HP:0000543	Optic disc pallor
7168	TPM1	HP:0000006	Autosomal dominant inheritance
7168	TPM1	HP:0033755	Increased left ventricular end-diastolic volume
7168	TPM1	HP:0100578	Lipoatrophy
7168	TPM1	HP:0003457	EMG abnormality
7168	TPM1	HP:0004756	Ventricular tachycardia
7168	TPM1	HP:0003596	Middle age onset
7168	TPM1	HP:0003577	Congenital onset
7168	TPM1	HP:0003584	Late onset
7168	TPM1	HP:0003623	Neonatal onset
7168	TPM1	HP:0011463	Childhood onset
7168	TPM1	HP:0011462	Young adult onset
7168	TPM1	HP:0011461	Fetal onset
7168	TPM1	HP:0003198	Myopathy
7168	TPM1	HP:0003236	Elevated circulating creatine kinase concentration
7168	TPM1	HP:0010316	Ebstein anomaly of the tricuspid valve
7168	TPM1	HP:0000982	Palmoplantar keratoderma
7168	TPM1	HP:0011664	Left ventricular noncompaction cardiomyopathy
7168	TPM1	HP:0005110	Atrial fibrillation
7168	TPM1	HP:0001645	Sudden cardiac death
7168	TPM1	HP:0001644	Dilated cardiomyopathy
7168	TPM1	HP:0001653	Mitral regurgitation
7168	TPM1	HP:0001639	Hypertrophic cardiomyopathy
7168	TPM1	HP:0001635	Congestive heart failure
7168	TPM1	HP:0000407	Sensorineural hearing impairment
7168	TPM1	HP:0001874	Abnormality of neutrophils
7169	TPM2	HP:0001188	Hand clenching
7169	TPM2	HP:0001181	Adducted thumb
7169	TPM2	HP:0002483	Bulbar signs
7169	TPM2	HP:0003798	Nemaline bodies
7169	TPM2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
7169	TPM2	HP:0007210	Lower limb amyotrophy
7169	TPM2	HP:0002421	Poor head control
7169	TPM2	HP:0003749	Pelvic girdle muscle weakness
7169	TPM2	HP:0003722	Neck flexor weakness
7169	TPM2	HP:0003700	Generalized amyotrophy
7169	TPM2	HP:0001290	Generalized hypotonia
7169	TPM2	HP:0001270	Motor delay
7169	TPM2	HP:0001288	Gait disturbance
7169	TPM2	HP:0001284	Areflexia
7169	TPM2	HP:0100830	Round ear
7169	TPM2	HP:0001252	Hypotonia
7169	TPM2	HP:0001249	Intellectual disability
7169	TPM2	HP:0001265	Hyporeflexia
7169	TPM2	HP:0007340	Lower limb muscle weakness
7169	TPM2	HP:0002515	Waddling gait
7169	TPM2	HP:0003803	Type 1 muscle fiber predominance
7169	TPM2	HP:0001374	Congenital hip dislocation
7169	TPM2	HP:0001371	Flexion contracture
7169	TPM2	HP:0001387	Joint stiffness
7169	TPM2	HP:0001349	Facial diplegia
7169	TPM2	HP:0000028	Cryptorchidism
7169	TPM2	HP:0008872	Feeding difficulties in infancy
7169	TPM2	HP:0000006	Autosomal dominant inheritance
7169	TPM2	HP:0002650	Scoliosis
7169	TPM2	HP:0001319	Neonatal hypotonia
7169	TPM2	HP:0001315	Reduced tendon reflexes
7169	TPM2	HP:0002616	Aortic root aneurysm
7169	TPM2	HP:0000160	Narrow mouth
7169	TPM2	HP:0007598	Bilateral single transverse palmar creases
7169	TPM2	HP:0002792	Reduced vital capacity
7169	TPM2	HP:0002751	Kyphoscoliosis
7169	TPM2	HP:0002747	Respiratory insufficiency due to muscle weakness
7169	TPM2	HP:0003327	Axial muscle weakness
7169	TPM2	HP:0003325	Limb-girdle muscle weakness
7169	TPM2	HP:0002015	Dysphagia
7169	TPM2	HP:0003307	Hyperlordosis
7169	TPM2	HP:0003306	Spinal rigidity
7169	TPM2	HP:0003323	Progressive muscle weakness
7169	TPM2	HP:0003324	Generalized muscle weakness
7169	TPM2	HP:0011807	Type 1 muscle fiber atrophy
7169	TPM2	HP:0002086	Abnormality of the respiratory system
7169	TPM2	HP:0002093	Respiratory insufficiency
7169	TPM2	HP:0002067	Bradykinesia
7169	TPM2	HP:0002068	Neuromuscular dysphagia
7169	TPM2	HP:0003391	Gowers sign
7169	TPM2	HP:0002058	Myopathic facies
7169	TPM2	HP:0003388	Easy fatigability
7169	TPM2	HP:0009465	Ulnar deviation of finger
7169	TPM2	HP:0033142	Long nasal bridge
7169	TPM2	HP:0011703	Sinus tachycardia
7169	TPM2	HP:0008180	Mildly elevated creatine kinase
7169	TPM2	HP:0009473	Joint contracture of the hand
7169	TPM2	HP:0003458	EMG: myopathic abnormalities
7169	TPM2	HP:0003422	Vertebral segmentation defect
7169	TPM2	HP:0100490	Camptodactyly of finger
7169	TPM2	HP:0010557	Overlapping fingers
7169	TPM2	HP:0011842	Abnormal skeletal morphology
7169	TPM2	HP:0003577	Congenital onset
7169	TPM2	HP:0003552	Muscle stiffness
7169	TPM2	HP:0003551	Difficulty climbing stairs
7169	TPM2	HP:0003547	Shoulder girdle muscle weakness
7169	TPM2	HP:0004878	Intercostal muscle weakness
7169	TPM2	HP:0003546	Exercise intolerance
7169	TPM2	HP:0003557	Increased variability in muscle fiber diameter
7169	TPM2	HP:0002205	Recurrent respiratory infections
7169	TPM2	HP:0009742	Stiff shoulders
7169	TPM2	HP:0008368	Tarsal synostosis
7169	TPM2	HP:0007010	Poor fine motor coordination
7169	TPM2	HP:0011968	Feeding difficulties
7169	TPM2	HP:0010628	Facial palsy
7169	TPM2	HP:0011951	Aspiration pneumonia
7169	TPM2	HP:0001032	Absent distal interphalangeal creases
7169	TPM2	HP:0002360	Sleep disturbance
7169	TPM2	HP:0003691	Scapular winging
7169	TPM2	HP:0003690	Limb muscle weakness
7169	TPM2	HP:0002359	Frequent falls
7169	TPM2	HP:0002375	Hypokinesia
7169	TPM2	HP:0002355	Difficulty walking
7169	TPM2	HP:0002315	Headache
7169	TPM2	HP:0007110	Central hypoventilation
7169	TPM2	HP:0002312	Clumsiness
7169	TPM2	HP:0003621	Juvenile onset
7169	TPM2	HP:0000602	Ophthalmoplegia
7169	TPM2	HP:0009055	Generalized limb muscle atrophy
7169	TPM2	HP:0009058	Increased muscle lipid content
7169	TPM2	HP:0009046	Difficulty running
7169	TPM2	HP:0009027	Foot dorsiflexor weakness
7169	TPM2	HP:0000678	Dental crowding
7169	TPM2	HP:0009004	Hypoplasia of the musculature
7169	TPM2	HP:0001989	Fetal akinesia sequence
7169	TPM2	HP:0004322	Short stature
7169	TPM2	HP:0004303	Abnormal muscle fiber morphology
7169	TPM2	HP:0004396	Poor appetite
7169	TPM2	HP:0003049	Ulnar deviation of the wrist
7169	TPM2	HP:0004347	Weakness of muscles of respiration
7169	TPM2	HP:0000767	Pectus excavatum
7169	TPM2	HP:0000765	Abnormal thorax morphology
7169	TPM2	HP:0011470	Nasogastric tube feeding in infancy
7169	TPM2	HP:0012785	Flexion contracture of finger
7169	TPM2	HP:0011463	Childhood onset
7169	TPM2	HP:0000774	Narrow chest
7169	TPM2	HP:0003198	Myopathy
7169	TPM2	HP:0003184	Decreased hip abduction
7169	TPM2	HP:0003236	Elevated circulating creatine kinase concentration
7169	TPM2	HP:0003202	Skeletal muscle atrophy
7169	TPM2	HP:0003273	Hip contracture
7169	TPM2	HP:0003272	Abnormal hip bone morphology
7169	TPM2	HP:0000954	Single transverse palmar crease
7169	TPM2	HP:0008081	Pes valgus
7169	TPM2	HP:0000278	Retrognathia
7169	TPM2	HP:0000275	Narrow face
7169	TPM2	HP:0000276	Long face
7169	TPM2	HP:0006466	Ankle flexion contracture
7169	TPM2	HP:0002827	Hip dislocation
7169	TPM2	HP:0002808	Kyphosis
7169	TPM2	HP:0002804	Arthrogryposis multiplex congenita
7169	TPM2	HP:0006380	Knee flexion contracture
7169	TPM2	HP:0002878	Respiratory failure
7169	TPM2	HP:0000218	High palate
7169	TPM2	HP:0002877	Nocturnal hypoventilation
7169	TPM2	HP:0001561	Polyhydramnios
7169	TPM2	HP:0001558	Decreased fetal movement
7169	TPM2	HP:0002857	Genu valgum
7169	TPM2	HP:0000211	Trismus
7169	TPM2	HP:0001533	Slender build
7169	TPM2	HP:0001508	Failure to thrive
7169	TPM2	HP:0030051	Tip-toe gait
7169	TPM2	HP:0006501	Aplasia/Hypoplasia of the radius
7169	TPM2	HP:0012378	Fatigue
7169	TPM2	HP:0012385	Camptodactyly
7169	TPM2	HP:0030200	Fatiguable weakness of proximal limb muscles
7169	TPM2	HP:0005216	Impaired mastication
7169	TPM2	HP:0001609	Hoarse voice
7169	TPM2	HP:0002938	Lumbar hyperlordosis
7169	TPM2	HP:0030196	Fatigable weakness of respiratory muscles
7169	TPM2	HP:0030192	Fatigable weakness of bulbar muscles
7169	TPM2	HP:0002943	Thoracic scoliosis
7169	TPM2	HP:0001611	Hypernasal speech
7169	TPM2	HP:0030198	Fatigable weakness of distal limb muscles
7169	TPM2	HP:0000369	Low-set ears
7169	TPM2	HP:0000347	Micrognathia
7169	TPM2	HP:0000316	Hypertelorism
7169	TPM2	HP:0001648	Cor pulmonale
7169	TPM2	HP:0002987	Elbow flexion contracture
7169	TPM2	HP:0001627	Abnormal heart morphology
7169	TPM2	HP:0001623	Breech presentation
7169	TPM2	HP:0002970	Genu varum
7169	TPM2	HP:0001638	Cardiomyopathy
7169	TPM2	HP:0001634	Mitral valve prolapse
7169	TPM2	HP:0030319	Weakness of facial musculature
7169	TPM2	HP:0006673	Reduced systolic function
7169	TPM2	HP:0000407	Sensorineural hearing impairment
7169	TPM2	HP:0000470	Short neck
7169	TPM2	HP:0000465	Webbed neck
7169	TPM2	HP:0000467	Neck muscle weakness
7169	TPM2	HP:0001763	Pes planus
7169	TPM2	HP:0012416	Hypercapnia
7169	TPM2	HP:0012418	Hypoxemia
7169	TPM2	HP:0000411	Protruding ear
7169	TPM2	HP:0001762	Talipes equinovarus
7169	TPM2	HP:0000431	Wide nasal bridge
7169	TPM2	HP:0001761	Pes cavus
7169	TPM2	HP:0001848	Calcaneovalgus deformity
7169	TPM2	HP:0001845	Overlapping toe
7169	TPM2	HP:0001824	Weight loss
7169	TPM2	HP:0001838	Rocker bottom foot
7169	TPM2	HP:0000508	Ptosis
7169	TPM2	HP:0001883	Talipes
7170	TPM3	HP:0002483	Bulbar signs
7170	TPM3	HP:0003798	Nemaline bodies
7170	TPM3	HP:0007210	Lower limb amyotrophy
7170	TPM3	HP:0002421	Poor head control
7170	TPM3	HP:0003749	Pelvic girdle muscle weakness
7170	TPM3	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers
7170	TPM3	HP:0003724	Shoulder girdle muscle atrophy
7170	TPM3	HP:0003701	Proximal muscle weakness
7170	TPM3	HP:0003700	Generalized amyotrophy
7170	TPM3	HP:0001290	Generalized hypotonia
7170	TPM3	HP:0001270	Motor delay
7170	TPM3	HP:0001283	Bulbar palsy
7170	TPM3	HP:0001284	Areflexia
7170	TPM3	HP:0001252	Hypotonia
7170	TPM3	HP:0001265	Hyporeflexia
7170	TPM3	HP:0007340	Lower limb muscle weakness
7170	TPM3	HP:0002515	Waddling gait
7170	TPM3	HP:0003828	Variable expressivity
7170	TPM3	HP:0032341	Reduced forced vital capacity
7170	TPM3	HP:0003803	Type 1 muscle fiber predominance
7170	TPM3	HP:0001374	Congenital hip dislocation
7170	TPM3	HP:0001371	Flexion contracture
7170	TPM3	HP:0001349	Facial diplegia
7170	TPM3	HP:0000007	Autosomal recessive inheritance
7170	TPM3	HP:0000006	Autosomal dominant inheritance
7170	TPM3	HP:0002650	Scoliosis
7170	TPM3	HP:0001319	Neonatal hypotonia
7170	TPM3	HP:0001315	Reduced tendon reflexes
7170	TPM3	HP:0002616	Aortic root aneurysm
7170	TPM3	HP:0008944	Distal lower limb amyotrophy
7170	TPM3	HP:0002705	High, narrow palate
7170	TPM3	HP:0002792	Reduced vital capacity
7170	TPM3	HP:0002751	Kyphoscoliosis
7170	TPM3	HP:0002747	Respiratory insufficiency due to muscle weakness
7170	TPM3	HP:0002015	Dysphagia
7170	TPM3	HP:0003307	Hyperlordosis
7170	TPM3	HP:0003306	Spinal rigidity
7170	TPM3	HP:0003323	Progressive muscle weakness
7170	TPM3	HP:0003324	Generalized muscle weakness
7170	TPM3	HP:0011807	Type 1 muscle fiber atrophy
7170	TPM3	HP:0002086	Abnormality of the respiratory system
7170	TPM3	HP:0002093	Respiratory insufficiency
7170	TPM3	HP:0002067	Bradykinesia
7170	TPM3	HP:0002068	Neuromuscular dysphagia
7170	TPM3	HP:0003391	Gowers sign
7170	TPM3	HP:0002058	Myopathic facies
7170	TPM3	HP:0003388	Easy fatigability
7170	TPM3	HP:0011703	Sinus tachycardia
7170	TPM3	HP:0008180	Mildly elevated creatine kinase
7170	TPM3	HP:0003458	EMG: myopathic abnormalities
7170	TPM3	HP:0011842	Abnormal skeletal morphology
7170	TPM3	HP:0003577	Congenital onset
7170	TPM3	HP:0003552	Muscle stiffness
7170	TPM3	HP:0003551	Difficulty climbing stairs
7170	TPM3	HP:0003547	Shoulder girdle muscle weakness
7170	TPM3	HP:0004878	Intercostal muscle weakness
7170	TPM3	HP:0003546	Exercise intolerance
7170	TPM3	HP:0003557	Increased variability in muscle fiber diameter
7170	TPM3	HP:0002205	Recurrent respiratory infections
7170	TPM3	HP:0007010	Poor fine motor coordination
7170	TPM3	HP:0011968	Feeding difficulties
7170	TPM3	HP:0010628	Facial palsy
7170	TPM3	HP:0011951	Aspiration pneumonia
7170	TPM3	HP:0002360	Sleep disturbance
7170	TPM3	HP:0003691	Scapular winging
7170	TPM3	HP:0003690	Limb muscle weakness
7170	TPM3	HP:0002359	Frequent falls
7170	TPM3	HP:0002375	Hypokinesia
7170	TPM3	HP:0002355	Difficulty walking
7170	TPM3	HP:0003687	Centrally nucleated skeletal muscle fibers
7170	TPM3	HP:0002315	Headache
7170	TPM3	HP:0007110	Central hypoventilation
7170	TPM3	HP:0002312	Clumsiness
7170	TPM3	HP:0003621	Juvenile onset
7170	TPM3	HP:0006829	Severe muscular hypotonia
7170	TPM3	HP:0000602	Ophthalmoplegia
7170	TPM3	HP:0009053	Distal lower limb muscle weakness
7170	TPM3	HP:0009055	Generalized limb muscle atrophy
7170	TPM3	HP:0009058	Increased muscle lipid content
7170	TPM3	HP:0009046	Difficulty running
7170	TPM3	HP:0009027	Foot dorsiflexor weakness
7170	TPM3	HP:0000678	Dental crowding
7170	TPM3	HP:0009004	Hypoplasia of the musculature
7170	TPM3	HP:0001989	Fetal akinesia sequence
7170	TPM3	HP:0004303	Abnormal muscle fiber morphology
7170	TPM3	HP:0004396	Poor appetite
7170	TPM3	HP:0004347	Weakness of muscles of respiration
7170	TPM3	HP:0000767	Pectus excavatum
7170	TPM3	HP:0000765	Abnormal thorax morphology
7170	TPM3	HP:0011470	Nasogastric tube feeding in infancy
7170	TPM3	HP:0012785	Flexion contracture of finger
7170	TPM3	HP:0000774	Narrow chest
7170	TPM3	HP:0003121	Limb joint contracture
7170	TPM3	HP:0003198	Myopathy
7170	TPM3	HP:0003202	Skeletal muscle atrophy
7170	TPM3	HP:0005855	Multiple prenatal fractures
7170	TPM3	HP:0003273	Hip contracture
7170	TPM3	HP:0008081	Pes valgus
7170	TPM3	HP:0000275	Narrow face
7170	TPM3	HP:0000276	Long face
7170	TPM3	HP:0006466	Ankle flexion contracture
7170	TPM3	HP:0002804	Arthrogryposis multiplex congenita
7170	TPM3	HP:0006380	Knee flexion contracture
7170	TPM3	HP:0002878	Respiratory failure
7170	TPM3	HP:0000218	High palate
7170	TPM3	HP:0001561	Polyhydramnios
7170	TPM3	HP:0001558	Decreased fetal movement
7170	TPM3	HP:0001533	Slender build
7170	TPM3	HP:0001508	Failure to thrive
7170	TPM3	HP:0030051	Tip-toe gait
7170	TPM3	HP:0012378	Fatigue
7170	TPM3	HP:0030200	Fatiguable weakness of proximal limb muscles
7170	TPM3	HP:0005216	Impaired mastication
7170	TPM3	HP:0001609	Hoarse voice
7170	TPM3	HP:0002938	Lumbar hyperlordosis
7170	TPM3	HP:0030192	Fatigable weakness of bulbar muscles
7170	TPM3	HP:0002943	Thoracic scoliosis
7170	TPM3	HP:0001612	Weak cry
7170	TPM3	HP:0001611	Hypernasal speech
7170	TPM3	HP:0000369	Low-set ears
7170	TPM3	HP:0000343	Long philtrum
7170	TPM3	HP:0000347	Micrognathia
7170	TPM3	HP:0000316	Hypertelorism
7170	TPM3	HP:0001648	Cor pulmonale
7170	TPM3	HP:0001644	Dilated cardiomyopathy
7170	TPM3	HP:0002987	Elbow flexion contracture
7170	TPM3	HP:0001627	Abnormal heart morphology
7170	TPM3	HP:0001623	Breech presentation
7170	TPM3	HP:0001622	Premature birth
7170	TPM3	HP:0001638	Cardiomyopathy
7170	TPM3	HP:0001634	Mitral valve prolapse
7170	TPM3	HP:0030319	Weakness of facial musculature
7170	TPM3	HP:0006673	Reduced systolic function
7170	TPM3	HP:0000467	Neck muscle weakness
7170	TPM3	HP:0001763	Pes planus
7170	TPM3	HP:0012416	Hypercapnia
7170	TPM3	HP:0012418	Hypoxemia
7170	TPM3	HP:0001762	Talipes equinovarus
7170	TPM3	HP:0001761	Pes cavus
7170	TPM3	HP:0001824	Weight loss
7170	TPM3	HP:0000508	Ptosis
7172	TPMT	HP:0000007	Autosomal recessive inheritance
7172	TPMT	HP:0001939	Abnormality of metabolism/homeostasis
7172	TPMT	HP:0001871	Abnormality of blood and blood-forming tissues
7173	TPO	HP:0001254	Lethargy
7173	TPO	HP:0001252	Hypotonia
7173	TPO	HP:0001249	Intellectual disability
7173	TPO	HP:0001265	Hyporeflexia
7173	TPO	HP:0008872	Feeding difficulties in infancy
7173	TPO	HP:0008828	Delayed proximal femoral epiphyseal ossification
7173	TPO	HP:0000007	Autosomal recessive inheritance
7173	TPO	HP:0025483	Abnormal circulating thyroglobulin level
7173	TPO	HP:0025482	Positive perchlorate discharge test
7173	TPO	HP:0000158	Macroglossia
7173	TPO	HP:0031219	Reduced radioactive iodine uptake
7173	TPO	HP:0031220	Increased radioactive iodine uptake
7173	TPO	HP:0002019	Constipation
7173	TPO	HP:0002045	Hypothermia
7173	TPO	HP:0005930	Abnormal epiphysis morphology
7173	TPO	HP:0008263	Thyroid defect in oxidation and organification of iodide
7173	TPO	HP:0003593	Infantile onset
7173	TPO	HP:0011437	Maternal autoimmune disease
7173	TPO	HP:0012758	Neurodevelopmental delay
7173	TPO	HP:0004491	Large posterior fontanelle
7173	TPO	HP:0000851	Congenital hypothyroidism
7173	TPO	HP:0000853	Goiter
7173	TPO	HP:0000821	Hypothyroidism
7173	TPO	HP:0003265	Neonatal hyperbilirubinemia
7173	TPO	HP:0000282	Facial edema
7173	TPO	HP:0000270	Delayed cranial suture closure
7173	TPO	HP:0001537	Umbilical hernia
7173	TPO	HP:0031507	Decreased circulating T4 concentration
7173	TPO	HP:0006579	Prolonged neonatal jaundice
7173	TPO	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7173	TPO	HP:0001662	Bradycardia
7173	TPO	HP:0000407	Sensorineural hearing impairment
7173	TPO	HP:0005280	Depressed nasal bridge
7174	TPP2	HP:0032247	Persistent CMV viremia
7174	TPP2	HP:0001297	Stroke
7174	TPP2	HP:0001269	Hemiparesis
7174	TPP2	HP:0001263	Global developmental delay
7174	TPP2	HP:0003819	Death in childhood
7174	TPP2	HP:0000007	Autosomal recessive inheritance
7174	TPP2	HP:0012115	Hepatitis
7174	TPP2	HP:0410028	Recurrent oral herpes
7174	TPP2	HP:0006268	Fluctuating splenomegaly
7174	TPP2	HP:0002783	Recurrent lower respiratory tract infections
7174	TPP2	HP:0002716	Lymphadenopathy
7174	TPP2	HP:0002725	Systemic lupus erythematosus
7174	TPP2	HP:0002110	Bronchiectasis
7174	TPP2	HP:0003496	Increased circulating IgM level
7174	TPP2	HP:0003593	Infantile onset
7174	TPP2	HP:0011947	Respiratory tract infection
7174	TPP2	HP:0001973	Autoimmune thrombocytopenia
7174	TPP2	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
7174	TPP2	HP:0011343	Moderate global developmental delay
7174	TPP2	HP:0011342	Mild global developmental delay
7174	TPP2	HP:0011463	Childhood onset
7174	TPP2	HP:0003237	Increased circulating IgG level
7174	TPP2	HP:0040167	Facial papilloma
7174	TPP2	HP:0000265	Mastoiditis
7174	TPP2	HP:0002960	Autoimmunity
7174	TPP2	HP:0000403	Recurrent otitis media
7174	TPP2	HP:0001744	Splenomegaly
7174	TPP2	HP:0001890	Autoimmune hemolytic anemia
7174	TPP2	HP:0001888	Lymphopenia
7174	TPP2	HP:0001878	Hemolytic anemia
7187	TRAF3	HP:0025143	Chills
7187	TRAF3	HP:0001250	Seizure
7187	TRAF3	HP:0001262	Excessive daytime somnolence
7187	TRAF3	HP:0001259	Coma
7187	TRAF3	HP:0001347	Hyperreflexia
7187	TRAF3	HP:0031179	Nuchal rigidity
7187	TRAF3	HP:0002721	Immunodeficiency
7187	TRAF3	HP:0002017	Nausea and vomiting
7187	TRAF3	HP:0030955	Alcoholism
7187	TRAF3	HP:0002133	Status epilepticus
7187	TRAF3	HP:0002181	Cerebral edema
7187	TRAF3	HP:0002167	Abnormality of speech or vocalization
7187	TRAF3	HP:0011897	Neutrophilia
7187	TRAF3	HP:0004887	Respiratory failure requiring assisted ventilation
7187	TRAF3	HP:0200149	CSF lymphocytic pleiocytosis
7187	TRAF3	HP:0011972	Hypoglycorrhachia
7187	TRAF3	HP:0002384	Focal impaired awareness seizure
7187	TRAF3	HP:0002353	EEG abnormality
7187	TRAF3	HP:0002349	Focal aware seizure
7187	TRAF3	HP:0002315	Headache
7187	TRAF3	HP:0007185	Loss of consciousness
7187	TRAF3	HP:0001974	Leukocytosis
7187	TRAF3	HP:0001945	Fever
7187	TRAF3	HP:0004302	Functional motor deficit
7187	TRAF3	HP:0004372	Reduced consciousness/confusion
7187	TRAF3	HP:0012378	Fatigue
7187	TRAF3	HP:0002922	Increased CSF protein concentration
7187	TRAF3	HP:0002902	Hyponatremia
7187	TRAF3	HP:0012443	Abnormality of brain morphology
7187	TRAF3	HP:0011227	Elevated circulating C-reactive protein concentration
7189	TRAF6	HP:0001231	Abnormal fingernail morphology
7189	TRAF6	HP:0000164	Abnormality of the dentition
7189	TRAF6	HP:0006323	Premature loss of primary teeth
7189	TRAF6	HP:0002047	Malignant hyperthermia
7189	TRAF6	HP:0002231	Sparse body hair
7189	TRAF6	HP:0001000	Abnormality of skin pigmentation
7189	TRAF6	HP:0000668	Hypodontia
7189	TRAF6	HP:0000964	Eczema
7189	TRAF6	HP:0000966	Hypohidrosis
7189	TRAF6	HP:0000963	Thin skin
7189	TRAF6	HP:0008070	Sparse hair
7189	TRAF6	HP:0006482	Abnormality of dental morphology
7189	TRAF6	HP:0012471	Thick vermilion border
7189	TRAF6	HP:0000457	Depressed nasal ridge
7189	TRAF6	HP:0011220	Prominent forehead
7200	TRH	HP:0001249	Intellectual disability
7200	TRH	HP:0001324	Muscle weakness
7200	TRH	HP:0000007	Autosomal recessive inheritance
7200	TRH	HP:0002750	Delayed skeletal maturation
7200	TRH	HP:0002019	Constipation
7200	TRH	HP:0008237	Hypothalamic hypothyroidism
7200	TRH	HP:0004322	Short stature
7200	TRH	HP:0000821	Hypothyroidism
7200	TRH	HP:0000958	Dry skin
7200	TRH	HP:0001609	Hoarse voice
7201	TRHR	HP:0032210	Decreased circulating free T3
7201	TRHR	HP:0001254	Lethargy
7201	TRHR	HP:0000007	Autosomal recessive inheritance
7201	TRHR	HP:0025483	Abnormal circulating thyroglobulin level
7201	TRHR	HP:0031219	Reduced radioactive iodine uptake
7201	TRHR	HP:0002750	Delayed skeletal maturation
7201	TRHR	HP:0005990	Thyroid hypoplasia
7201	TRHR	HP:0008245	Pituitary hypothyroidism
7201	TRHR	HP:0008202	Reduced circulating prolactin concentration
7201	TRHR	HP:0004322	Short stature
7201	TRHR	HP:0000716	Depression
7201	TRHR	HP:0000707	Abnormality of the nervous system
7201	TRHR	HP:0011437	Maternal autoimmune disease
7201	TRHR	HP:0012758	Neurodevelopmental delay
7201	TRHR	HP:0000853	Goiter
7201	TRHR	HP:0000870	Increased circulating prolactin concentration
7201	TRHR	HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test
7201	TRHR	HP:0000958	Dry skin
7201	TRHR	HP:0030057	Autoimmune antibody positivity
7201	TRHR	HP:0025502	Overweight
7201	TRHR	HP:0001510	Growth delay
7201	TRHR	HP:0031507	Decreased circulating T4 concentration
7201	TRHR	HP:0012378	Fatigue
7201	TRHR	HP:0006579	Prolonged neonatal jaundice
7201	TRHR	HP:0001609	Hoarse voice
7201	TRHR	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7204	TRIO	HP:0001182	Tapered finger
7204	TRIO	HP:0001155	Abnormality of the hand
7204	TRIO	HP:0001156	Brachydactyly
7204	TRIO	HP:0002465	Poor speech
7204	TRIO	HP:0001270	Motor delay
7204	TRIO	HP:0001256	Intellectual disability, mild
7204	TRIO	HP:0001250	Seizure
7204	TRIO	HP:0001252	Hypotonia
7204	TRIO	HP:0001249	Intellectual disability
7204	TRIO	HP:0001263	Global developmental delay
7204	TRIO	HP:0008770	Obsessive-compulsive trait
7204	TRIO	HP:0002553	Highly arched eyebrow
7204	TRIO	HP:0025336	Delayed ability to sit
7204	TRIO	HP:0000020	Urinary incontinence
7204	TRIO	HP:0001347	Hyperreflexia
7204	TRIO	HP:0008872	Feeding difficulties in infancy
7204	TRIO	HP:0001328	Specific learning disability
7204	TRIO	HP:0001344	Absent speech
7204	TRIO	HP:0001337	Tremor
7204	TRIO	HP:0000006	Autosomal dominant inheritance
7204	TRIO	HP:0002650	Scoliosis
7204	TRIO	HP:0000164	Abnormality of the dentition
7204	TRIO	HP:0000154	Wide mouth
7204	TRIO	HP:0002719	Recurrent infections
7204	TRIO	HP:0002033	Poor suck
7204	TRIO	HP:0004691	2-3 toe syndactyly
7204	TRIO	HP:0002015	Dysphagia
7204	TRIO	HP:0002007	Frontal bossing
7204	TRIO	HP:0011800	Midface retrusion
7204	TRIO	HP:0002066	Gait ataxia
7204	TRIO	HP:0011908	Unilateral radial aplasia
7204	TRIO	HP:0003593	Infantile onset
7204	TRIO	HP:0002236	Frontal upsweep of hair
7204	TRIO	HP:0100716	Self-injurious behavior
7204	TRIO	HP:0007021	Pain insensitivity
7204	TRIO	HP:0007018	Attention deficit hyperactivity disorder
7204	TRIO	HP:0011968	Feeding difficulties
7204	TRIO	HP:0009659	Partial absence of thumb
7204	TRIO	HP:0002360	Sleep disturbance
7204	TRIO	HP:0003691	Scapular winging
7204	TRIO	HP:0001007	Hirsutism
7204	TRIO	HP:0200006	Slanting of the palpebral fissure
7204	TRIO	HP:0010780	Hyperacusis
7204	TRIO	HP:0009765	Low hanging columella
7204	TRIO	HP:0004209	Clinodactyly of the 5th finger
7204	TRIO	HP:0004279	Short palm
7204	TRIO	HP:0006889	Intellectual disability, borderline
7204	TRIO	HP:0000646	Amblyopia
7204	TRIO	HP:0000629	Periorbital fullness
7204	TRIO	HP:0010035	Aplasia of the 1st metacarpal
7204	TRIO	HP:0000684	Delayed eruption of teeth
7204	TRIO	HP:0000678	Dental crowding
7204	TRIO	HP:0000677	Oligodontia
7204	TRIO	HP:0000664	Synophrys
7204	TRIO	HP:0003072	Hypercalcemia
7204	TRIO	HP:0031936	Delayed ability to walk
7204	TRIO	HP:0000767	Pectus excavatum
7204	TRIO	HP:0000733	Abnormal repetitive mannerisms
7204	TRIO	HP:0000750	Delayed speech and language development
7204	TRIO	HP:0000742	Self-mutilation
7204	TRIO	HP:0000718	Aggressive behavior
7204	TRIO	HP:0000729	Autistic behavior
7204	TRIO	HP:0000722	Compulsive behaviors
7204	TRIO	HP:0000708	Atypical behavior
7204	TRIO	HP:0000706	Eruption failure
7204	TRIO	HP:0011471	Gastrostomy tube feeding in infancy
7204	TRIO	HP:0011463	Childhood onset
7204	TRIO	HP:0011451	Primary microcephaly
7204	TRIO	HP:0003196	Short nose
7204	TRIO	HP:0000954	Single transverse palmar crease
7204	TRIO	HP:0000286	Epicanthus
7204	TRIO	HP:0000278	Retrognathia
7204	TRIO	HP:0000294	Low anterior hairline
7204	TRIO	HP:0000256	Macrocephaly
7204	TRIO	HP:0002808	Kyphosis
7204	TRIO	HP:0000252	Microcephaly
7204	TRIO	HP:0000219	Thin upper lip vermilion
7204	TRIO	HP:0000218	High palate
7204	TRIO	HP:0001508	Failure to thrive
7204	TRIO	HP:0012378	Fatigue
7204	TRIO	HP:0000396	Overfolded helix
7204	TRIO	HP:0001674	Complete atrioventricular canal defect
7204	TRIO	HP:0000343	Long philtrum
7204	TRIO	HP:0000348	High forehead
7204	TRIO	HP:0000347	Micrognathia
7204	TRIO	HP:0000316	Hypertelorism
7204	TRIO	HP:0001643	Patent ductus arteriosus
7204	TRIO	HP:0000331	Short chin
7204	TRIO	HP:0000322	Short philtrum
7204	TRIO	HP:0000324	Facial asymmetry
7204	TRIO	HP:0001629	Ventricular septal defect
7204	TRIO	HP:0001631	Atrial septal defect
7204	TRIO	HP:0007970	Congenital ptosis
7204	TRIO	HP:0000400	Macrotia
7204	TRIO	HP:0005280	Depressed nasal bridge
7204	TRIO	HP:0000486	Strabismus
7204	TRIO	HP:0012471	Thick vermilion border
7204	TRIO	HP:0000494	Downslanted palpebral fissures
7204	TRIO	HP:0000463	Anteverted nares
7204	TRIO	HP:0012450	Chronic constipation
7204	TRIO	HP:0001763	Pes planus
7204	TRIO	HP:0000414	Bulbous nose
7204	TRIO	HP:0000431	Wide nasal bridge
7204	TRIO	HP:0000430	Underdeveloped nasal alae
7204	TRIO	HP:0000426	Prominent nasal bridge
7204	TRIO	HP:0005484	Secondary microcephaly
7204	TRIO	HP:0001852	Sandal gap
7204	TRIO	HP:0000508	Ptosis
7204	TRIO	HP:0000582	Upslanted palpebral fissure
7204	TRIO	HP:0000574	Thick eyebrow
7222	TRPC3	HP:0001272	Cerebellar atrophy
7222	TRPC3	HP:0001251	Ataxia
7222	TRPC3	HP:0000006	Autosomal dominant inheritance
7222	TRPC3	HP:0002066	Gait ataxia
7222	TRPC3	HP:0002172	Postural instability
7222	TRPC3	HP:0003581	Adult onset
7222	TRPC3	HP:0003676	Progressive
7222	TRPC3	HP:0002317	Unsteady gait
7222	TRPC3	HP:0006855	Cerebellar vermis atrophy
7225	TRPC6	HP:0003774	Stage 5 chronic kidney disease
7225	TRPC6	HP:0002586	Peritonitis
7225	TRPC6	HP:0000097	Focal segmental glomerulosclerosis
7225	TRPC6	HP:0000093	Proteinuria
7225	TRPC6	HP:0000006	Autosomal dominant inheritance
7225	TRPC6	HP:0000100	Nephrotic syndrome
7225	TRPC6	HP:0002027	Abdominal pain
7225	TRPC6	HP:0100539	Periorbital edema
7225	TRPC6	HP:0011947	Respiratory tract infection
7225	TRPC6	HP:0002315	Headache
7225	TRPC6	HP:0012622	Chronic kidney disease
7225	TRPC6	HP:0001967	Diffuse mesangial sclerosis
7225	TRPC6	HP:0001945	Fever
7225	TRPC6	HP:0003073	Hypoalbuminemia
7225	TRPC6	HP:0000737	Irritability
7225	TRPC6	HP:0000707	Abnormality of the nervous system
7225	TRPC6	HP:0011462	Young adult onset
7225	TRPC6	HP:0000822	Hypertension
7225	TRPC6	HP:0000969	Edema
7225	TRPC6	HP:0031504	Foamy urine
7225	TRPC6	HP:0012579	Minimal change glomerulonephritis
7227	TRPS1	HP:0001156	Brachydactyly
7227	TRPS1	HP:0009928	Thick nasal alae
7227	TRPS1	HP:0009882	Short distal phalanx of finger
7227	TRPS1	HP:0001290	Generalized hypotonia
7227	TRPS1	HP:0001252	Hypotonia
7227	TRPS1	HP:0001249	Intellectual disability
7227	TRPS1	HP:0000076	Vesicoureteral reflux
7227	TRPS1	HP:0001373	Joint dislocation
7227	TRPS1	HP:0001385	Hip dysplasia
7227	TRPS1	HP:0000010	Recurrent urinary tract infections
7227	TRPS1	HP:0000006	Autosomal dominant inheritance
7227	TRPS1	HP:0002653	Bone pain
7227	TRPS1	HP:0002650	Scoliosis
7227	TRPS1	HP:0000189	Narrow palate
7227	TRPS1	HP:0000164	Abnormality of the dentition
7227	TRPS1	HP:0000174	Abnormal palate morphology
7227	TRPS1	HP:0008947	Infantile muscular hypotonia
7227	TRPS1	HP:0007598	Bilateral single transverse palmar creases
7227	TRPS1	HP:0006253	Swelling of proximal interphalangeal joints
7227	TRPS1	HP:0002758	Osteoarthritis
7227	TRPS1	HP:0002750	Delayed skeletal maturation
7227	TRPS1	HP:0002002	Deep philtrum
7227	TRPS1	HP:0002007	Frontal bossing
7227	TRPS1	HP:0003307	Hyperlordosis
7227	TRPS1	HP:0003370	Flat capital femoral epiphysis
7227	TRPS1	HP:0002119	Ventriculomegaly
7227	TRPS1	HP:0011910	Shortening of all phalanges of fingers
7227	TRPS1	HP:0100490	Camptodactyly of finger
7227	TRPS1	HP:0011823	Chin with horizontal crease
7227	TRPS1	HP:0010579	Cone-shaped epiphysis
7227	TRPS1	HP:0002217	Slow-growing hair
7227	TRPS1	HP:0002213	Fine hair
7227	TRPS1	HP:0002209	Sparse scalp hair
7227	TRPS1	HP:0002205	Recurrent respiratory infections
7227	TRPS1	HP:0100777	Exostoses
7227	TRPS1	HP:0003691	Scapular winging
7227	TRPS1	HP:0009803	Short phalanx of finger
7227	TRPS1	HP:0010743	Short metatarsal
7227	TRPS1	HP:0004209	Clinodactyly of the 5th finger
7227	TRPS1	HP:0004279	Short palm
7227	TRPS1	HP:0010049	Short metacarpal
7227	TRPS1	HP:0000684	Delayed eruption of teeth
7227	TRPS1	HP:0011341	Long upper lip
7227	TRPS1	HP:0000678	Dental crowding
7227	TRPS1	HP:0000691	Microdontia
7227	TRPS1	HP:0000689	Dental malocclusion
7227	TRPS1	HP:0000653	Sparse eyelashes
7227	TRPS1	HP:0000670	Carious teeth
7227	TRPS1	HP:0004322	Short stature
7227	TRPS1	HP:0030680	Abnormality of cardiovascular system morphology
7227	TRPS1	HP:0005692	Joint hyperflexibility
7227	TRPS1	HP:0000768	Pectus carinatum
7227	TRPS1	HP:0000707	Abnormality of the nervous system
7227	TRPS1	HP:0009118	Aplasia/Hypoplasia of the mandible
7227	TRPS1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
7227	TRPS1	HP:0010270	Cone-shaped epiphyses of the proximal phalanges of the hand
7227	TRPS1	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand
7227	TRPS1	HP:0010252	Ivory epiphyses of the distal phalanges of the hand
7227	TRPS1	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
7227	TRPS1	HP:0003279	Coxa magna
7227	TRPS1	HP:0045075	Sparse eyebrow
7227	TRPS1	HP:0045074	Thin eyebrow
7227	TRPS1	HP:0010300	Abnormally low-pitched voice
7227	TRPS1	HP:0000938	Osteopenia
7227	TRPS1	HP:0008070	Sparse hair
7227	TRPS1	HP:0009381	Short finger
7227	TRPS1	HP:0001598	Concave nail
7227	TRPS1	HP:0002829	Arthralgia
7227	TRPS1	HP:0002805	Accelerated bone age after puberty
7227	TRPS1	HP:0005039	Multiple long-bone exostoses
7227	TRPS1	HP:0000252	Microcephaly
7227	TRPS1	HP:0001582	Redundant skin
7227	TRPS1	HP:0000219	Thin upper lip vermilion
7227	TRPS1	HP:0000218	High palate
7227	TRPS1	HP:0002857	Genu valgum
7227	TRPS1	HP:0001510	Growth delay
7227	TRPS1	HP:0011069	Supernumerary tooth
7227	TRPS1	HP:0000368	Low-set, posteriorly rotated ears
7227	TRPS1	HP:0000343	Long philtrum
7227	TRPS1	HP:0000347	Micrognathia
7227	TRPS1	HP:0000319	Smooth philtrum
7227	TRPS1	HP:0000325	Triangular face
7227	TRPS1	HP:0005338	Sparse lateral eyebrow
7227	TRPS1	HP:0000405	Conductive hearing impairment
7227	TRPS1	HP:0000400	Macrotia
7227	TRPS1	HP:0001773	Short foot
7227	TRPS1	HP:0001763	Pes planus
7227	TRPS1	HP:0000447	Pear-shaped nose
7227	TRPS1	HP:0000414	Bulbous nose
7227	TRPS1	HP:0000411	Protruding ear
7227	TRPS1	HP:0000431	Wide nasal bridge
7227	TRPS1	HP:0000430	Underdeveloped nasal alae
7227	TRPS1	HP:0001820	Leukonychia
7227	TRPS1	HP:0001808	Fragile nails
7227	TRPS1	HP:0001816	Thin nail
7227	TRPS1	HP:0000574	Thick eyebrow
7227	TRPS1	HP:0001883	Talipes
7248	TSC1	HP:0002465	Poor speech
7248	TSC1	HP:0003774	Stage 5 chronic kidney disease
7248	TSC1	HP:0002446	Astrocytosis
7248	TSC1	HP:0010953	Noncommunicating hydrocephalus
7248	TSC1	HP:0003745	Sporadic
7248	TSC1	HP:0100804	Ungual fibroma
7248	TSC1	HP:0001269	Hemiparesis
7248	TSC1	HP:0001250	Seizure
7248	TSC1	HP:0001249	Intellectual disability
7248	TSC1	HP:0007449	Confetti-like hypopigmented macules
7248	TSC1	HP:0008762	Repetitive compulsive behavior
7248	TSC1	HP:0007359	Focal-onset seizure
7248	TSC1	HP:0002539	Cortical dysplasia
7248	TSC1	HP:0002514	Cerebral calcification
7248	TSC1	HP:0000083	Renal insufficiency
7248	TSC1	HP:0000077	Abnormality of the kidney
7248	TSC1	HP:0012086	Abnormal urinary color
7248	TSC1	HP:0001328	Specific learning disability
7248	TSC1	HP:0000008	Abnormal morphology of female internal genitalia
7248	TSC1	HP:0000006	Autosomal dominant inheritance
7248	TSC1	HP:0002666	Pheochromocytoma
7248	TSC1	HP:0000169	Gingival fibromatosis
7248	TSC1	HP:0001482	Subcutaneous nodule
7248	TSC1	HP:0000113	Polycystic kidney dysplasia
7248	TSC1	HP:0001428	Somatic mutation
7248	TSC1	HP:0000107	Renal cyst
7248	TSC1	HP:0001407	Hepatic cysts
7248	TSC1	HP:0002716	Lymphadenopathy
7248	TSC1	HP:0002027	Abdominal pain
7248	TSC1	HP:0100543	Cognitive impairment
7248	TSC1	HP:0002098	Respiratory distress
7248	TSC1	HP:0002097	Emphysema
7248	TSC1	HP:0002094	Dyspnea
7248	TSC1	HP:0002091	Restrictive ventilatory defect
7248	TSC1	HP:0100570	Carcinoid tumor
7248	TSC1	HP:0002133	Status epilepticus
7248	TSC1	HP:0002113	Pulmonary infiltrates
7248	TSC1	HP:0002107	Pneumothorax
7248	TSC1	HP:0002105	Hemoptysis
7248	TSC1	HP:0009554	Preauricular hair displacement
7248	TSC1	HP:0011852	Chylopericardium
7248	TSC1	HP:0008208	Parathyroid hyperplasia
7248	TSC1	HP:0009592	Astrocytoma
7248	TSC1	HP:0009594	Retinal hamartoma
7248	TSC1	HP:0003593	Infantile onset
7248	TSC1	HP:0002239	Gastrointestinal hemorrhage
7248	TSC1	HP:0003581	Adult onset
7248	TSC1	HP:0100710	Impulsivity
7248	TSC1	HP:0100716	Self-injurious behavior
7248	TSC1	HP:0002205	Recurrent respiratory infections
7248	TSC1	HP:0100763	Abnormality of the lymphatic system
7248	TSC1	HP:0009727	Achromatic retinal patches
7248	TSC1	HP:0009729	Cardiac rhabdomyoma
7248	TSC1	HP:0009734	Optic nerve glioma
7248	TSC1	HP:0009717	Cortical tubers
7248	TSC1	HP:0009716	Subependymal nodules
7248	TSC1	HP:0009719	Hypomelanotic macule
7248	TSC1	HP:0009718	Subependymal giant-cell astrocytoma
7248	TSC1	HP:0009720	Adenoma sebaceum
7248	TSC1	HP:0009722	Dental enamel pits
7248	TSC1	HP:0009721	Shagreen patch
7248	TSC1	HP:0009724	Subungual fibromas
7248	TSC1	HP:0009726	Renal neoplasm
7248	TSC1	HP:0100750	Atelectasis
7248	TSC1	HP:0100749	Chest pain
7248	TSC1	HP:0007042	Focal white matter lesions
7248	TSC1	HP:0007018	Attention deficit hyperactivity disorder
7248	TSC1	HP:0032051	Focal cortical dysplasia type II
7248	TSC1	HP:0010615	Angiofibromas
7248	TSC1	HP:0011947	Respiratory tract infection
7248	TSC1	HP:0002384	Focal impaired awareness seizure
7248	TSC1	HP:0002360	Sleep disturbance
7248	TSC1	HP:0001004	Lymphedema
7248	TSC1	HP:0001000	Abnormality of skin pigmentation
7248	TSC1	HP:0200024	Premature chromatid separation
7248	TSC1	HP:0007206	Hemimegalencephaly
7248	TSC1	HP:0200035	Skin plaque
7248	TSC1	HP:0200040	Epidermoid cyst
7248	TSC1	HP:0010762	Chordoma
7248	TSC1	HP:0004942	Aortic aneurysm
7248	TSC1	HP:0005584	Renal cell carcinoma
7248	TSC1	HP:0005562	Multiple renal cysts
7248	TSC1	HP:0012622	Chronic kidney disease
7248	TSC1	HP:0000648	Optic atrophy
7248	TSC1	HP:0001945	Fever
7248	TSC1	HP:0011354	Generalized abnormality of skin
7248	TSC1	HP:0000752	Hyperactivity
7248	TSC1	HP:0012735	Cough
7248	TSC1	HP:0012733	Macule
7248	TSC1	HP:0000739	Anxiety
7248	TSC1	HP:0000716	Depression
7248	TSC1	HP:0000718	Aggressive behavior
7248	TSC1	HP:0000717	Autism
7248	TSC1	HP:0000729	Autistic behavior
7248	TSC1	HP:0000708	Atypical behavior
7248	TSC1	HP:0012798	Pulmonary lymphangiomyomatosis
7248	TSC1	HP:0012778	Retinal astrocytic hamartoma
7248	TSC1	HP:0000790	Hematuria
7248	TSC1	HP:0012758	Neurodevelopmental delay
7248	TSC1	HP:0000826	Precocious puberty
7248	TSC1	HP:0000822	Hypertension
7248	TSC1	HP:0000821	Hypothyroidism
7248	TSC1	HP:0040030	Chorioretinal hypopigmentation
7248	TSC1	HP:0010310	Chylothorax
7248	TSC1	HP:0000957	Cafe-au-lait spot
7248	TSC1	HP:0000238	Hydrocephalus
7248	TSC1	HP:0002897	Parathyroid adenoma
7248	TSC1	HP:0002878	Respiratory failure
7248	TSC1	HP:0002893	Pituitary adenoma
7248	TSC1	HP:0002888	Ependymoma
7248	TSC1	HP:0001541	Ascites
7248	TSC1	HP:0011097	Epileptic spasm
7248	TSC1	HP:0012378	Fatigue
7248	TSC1	HP:0011029	Internal hemorrhage
7248	TSC1	HP:0001716	Wolff-Parkinson-White syndrome
7248	TSC1	HP:0012469	Infantile spasms
7248	TSC1	HP:0012433	Abnormal social behavior
7248	TSC1	HP:0030405	Pancreatic endocrine tumor
7248	TSC1	HP:0006772	Renal angiomyolipoma
7249	TSC2	HP:0002465	Poor speech
7249	TSC2	HP:0003774	Stage 5 chronic kidney disease
7249	TSC2	HP:0002446	Astrocytosis
7249	TSC2	HP:0010953	Noncommunicating hydrocephalus
7249	TSC2	HP:0003745	Sporadic
7249	TSC2	HP:0100804	Ungual fibroma
7249	TSC2	HP:0001269	Hemiparesis
7249	TSC2	HP:0001250	Seizure
7249	TSC2	HP:0001249	Intellectual disability
7249	TSC2	HP:0007449	Confetti-like hypopigmented macules
7249	TSC2	HP:0008762	Repetitive compulsive behavior
7249	TSC2	HP:0007359	Focal-onset seizure
7249	TSC2	HP:0002539	Cortical dysplasia
7249	TSC2	HP:0002514	Cerebral calcification
7249	TSC2	HP:0000083	Renal insufficiency
7249	TSC2	HP:0000077	Abnormality of the kidney
7249	TSC2	HP:0012086	Abnormal urinary color
7249	TSC2	HP:0001328	Specific learning disability
7249	TSC2	HP:0000008	Abnormal morphology of female internal genitalia
7249	TSC2	HP:0000006	Autosomal dominant inheritance
7249	TSC2	HP:0002666	Pheochromocytoma
7249	TSC2	HP:0000169	Gingival fibromatosis
7249	TSC2	HP:0001482	Subcutaneous nodule
7249	TSC2	HP:0000113	Polycystic kidney dysplasia
7249	TSC2	HP:0001428	Somatic mutation
7249	TSC2	HP:0000107	Renal cyst
7249	TSC2	HP:0001407	Hepatic cysts
7249	TSC2	HP:0002716	Lymphadenopathy
7249	TSC2	HP:0002027	Abdominal pain
7249	TSC2	HP:0100543	Cognitive impairment
7249	TSC2	HP:0002098	Respiratory distress
7249	TSC2	HP:0002097	Emphysema
7249	TSC2	HP:0002094	Dyspnea
7249	TSC2	HP:0002091	Restrictive ventilatory defect
7249	TSC2	HP:0100570	Carcinoid tumor
7249	TSC2	HP:0002133	Status epilepticus
7249	TSC2	HP:0002113	Pulmonary infiltrates
7249	TSC2	HP:0002107	Pneumothorax
7249	TSC2	HP:0002105	Hemoptysis
7249	TSC2	HP:0011852	Chylopericardium
7249	TSC2	HP:0008208	Parathyroid hyperplasia
7249	TSC2	HP:0009592	Astrocytoma
7249	TSC2	HP:0009594	Retinal hamartoma
7249	TSC2	HP:0003593	Infantile onset
7249	TSC2	HP:0002239	Gastrointestinal hemorrhage
7249	TSC2	HP:0003581	Adult onset
7249	TSC2	HP:0100710	Impulsivity
7249	TSC2	HP:0100716	Self-injurious behavior
7249	TSC2	HP:0002205	Recurrent respiratory infections
7249	TSC2	HP:0100763	Abnormality of the lymphatic system
7249	TSC2	HP:0009727	Achromatic retinal patches
7249	TSC2	HP:0009729	Cardiac rhabdomyoma
7249	TSC2	HP:0009734	Optic nerve glioma
7249	TSC2	HP:0009717	Cortical tubers
7249	TSC2	HP:0009716	Subependymal nodules
7249	TSC2	HP:0009719	Hypomelanotic macule
7249	TSC2	HP:0009718	Subependymal giant-cell astrocytoma
7249	TSC2	HP:0009720	Adenoma sebaceum
7249	TSC2	HP:0009721	Shagreen patch
7249	TSC2	HP:0009724	Subungual fibromas
7249	TSC2	HP:0009726	Renal neoplasm
7249	TSC2	HP:0100750	Atelectasis
7249	TSC2	HP:0100749	Chest pain
7249	TSC2	HP:0007042	Focal white matter lesions
7249	TSC2	HP:0007018	Attention deficit hyperactivity disorder
7249	TSC2	HP:0032051	Focal cortical dysplasia type II
7249	TSC2	HP:0010615	Angiofibromas
7249	TSC2	HP:0011947	Respiratory tract infection
7249	TSC2	HP:0002384	Focal impaired awareness seizure
7249	TSC2	HP:0002360	Sleep disturbance
7249	TSC2	HP:0001004	Lymphedema
7249	TSC2	HP:0001000	Abnormality of skin pigmentation
7249	TSC2	HP:0007206	Hemimegalencephaly
7249	TSC2	HP:0200035	Skin plaque
7249	TSC2	HP:0200040	Epidermoid cyst
7249	TSC2	HP:0010762	Chordoma
7249	TSC2	HP:0004942	Aortic aneurysm
7249	TSC2	HP:0005584	Renal cell carcinoma
7249	TSC2	HP:0005564	Absence of renal corticomedullary differentiation
7249	TSC2	HP:0005562	Multiple renal cysts
7249	TSC2	HP:0012622	Chronic kidney disease
7249	TSC2	HP:0000648	Optic atrophy
7249	TSC2	HP:0001945	Fever
7249	TSC2	HP:0011354	Generalized abnormality of skin
7249	TSC2	HP:0000752	Hyperactivity
7249	TSC2	HP:0012735	Cough
7249	TSC2	HP:0012733	Macule
7249	TSC2	HP:0000739	Anxiety
7249	TSC2	HP:0000716	Depression
7249	TSC2	HP:0000718	Aggressive behavior
7249	TSC2	HP:0000717	Autism
7249	TSC2	HP:0000729	Autistic behavior
7249	TSC2	HP:0000708	Atypical behavior
7249	TSC2	HP:0012798	Pulmonary lymphangiomyomatosis
7249	TSC2	HP:0012778	Retinal astrocytic hamartoma
7249	TSC2	HP:0000790	Hematuria
7249	TSC2	HP:0012758	Neurodevelopmental delay
7249	TSC2	HP:0000826	Precocious puberty
7249	TSC2	HP:0000822	Hypertension
7249	TSC2	HP:0000821	Hypothyroidism
7249	TSC2	HP:0040030	Chorioretinal hypopigmentation
7249	TSC2	HP:0010310	Chylothorax
7249	TSC2	HP:0000957	Cafe-au-lait spot
7249	TSC2	HP:0000238	Hydrocephalus
7249	TSC2	HP:0002897	Parathyroid adenoma
7249	TSC2	HP:0002878	Respiratory failure
7249	TSC2	HP:0002893	Pituitary adenoma
7249	TSC2	HP:0002888	Ependymoma
7249	TSC2	HP:0001541	Ascites
7249	TSC2	HP:0011097	Epileptic spasm
7249	TSC2	HP:0012378	Fatigue
7249	TSC2	HP:0011029	Internal hemorrhage
7249	TSC2	HP:0000365	Hearing impairment
7249	TSC2	HP:0001716	Wolff-Parkinson-White syndrome
7249	TSC2	HP:0012469	Infantile spasms
7249	TSC2	HP:0012433	Abnormal social behavior
7249	TSC2	HP:0030405	Pancreatic endocrine tumor
7249	TSC2	HP:0006772	Renal angiomyolipoma
7252	TSHB	HP:0010864	Intellectual disability, severe
7252	TSHB	HP:0001270	Motor delay
7252	TSHB	HP:0001254	Lethargy
7252	TSHB	HP:0001252	Hypotonia
7252	TSHB	HP:0001265	Hyporeflexia
7252	TSHB	HP:0031098	Decreased thyroid-stimulating hormone level
7252	TSHB	HP:0000053	Macroorchidism
7252	TSHB	HP:0002690	Large sella turcica
7252	TSHB	HP:0008872	Feeding difficulties in infancy
7252	TSHB	HP:0008850	Severe postnatal growth retardation
7252	TSHB	HP:0008828	Delayed proximal femoral epiphyseal ossification
7252	TSHB	HP:0000007	Autosomal recessive inheritance
7252	TSHB	HP:0025483	Abnormal circulating thyroglobulin level
7252	TSHB	HP:0000158	Macroglossia
7252	TSHB	HP:0031208	Increased pituitary glycoprotein hormone alpha subunit level
7252	TSHB	HP:0031219	Reduced radioactive iodine uptake
7252	TSHB	HP:0002750	Delayed skeletal maturation
7252	TSHB	HP:0002019	Constipation
7252	TSHB	HP:0005990	Thyroid hypoplasia
7252	TSHB	HP:0002045	Hypothermia
7252	TSHB	HP:0005930	Abnormal epiphysis morphology
7252	TSHB	HP:0008245	Pituitary hypothyroidism
7252	TSHB	HP:0003593	Infantile onset
7252	TSHB	HP:0007018	Attention deficit hyperactivity disorder
7252	TSHB	HP:0011968	Feeding difficulties
7252	TSHB	HP:0002312	Clumsiness
7252	TSHB	HP:0006887	Intellectual disability, progressive
7252	TSHB	HP:0000716	Depression
7252	TSHB	HP:0011437	Maternal autoimmune disease
7252	TSHB	HP:0012758	Neurodevelopmental delay
7252	TSHB	HP:0003124	Hypercholesterolemia
7252	TSHB	HP:0004491	Large posterior fontanelle
7252	TSHB	HP:0000853	Goiter
7252	TSHB	HP:0000870	Increased circulating prolactin concentration
7252	TSHB	HP:0000821	Hypothyroidism
7252	TSHB	HP:0003265	Neonatal hyperbilirubinemia
7252	TSHB	HP:0000958	Dry skin
7252	TSHB	HP:0000282	Facial edema
7252	TSHB	HP:0000260	Wide anterior fontanel
7252	TSHB	HP:0000270	Delayed cranial suture closure
7252	TSHB	HP:0030057	Autoimmune antibody positivity
7252	TSHB	HP:0001537	Umbilical hernia
7252	TSHB	HP:0001539	Omphalocele
7252	TSHB	HP:0001508	Failure to thrive
7252	TSHB	HP:0001510	Growth delay
7252	TSHB	HP:0031507	Decreased circulating T4 concentration
7252	TSHB	HP:0012378	Fatigue
7252	TSHB	HP:0006579	Prolonged neonatal jaundice
7252	TSHB	HP:0001609	Hoarse voice
7252	TSHB	HP:0001615	Hoarse cry
7252	TSHB	HP:0001662	Bradycardia
7252	TSHB	HP:0005280	Depressed nasal bridge
7253	TSHR	HP:0010864	Intellectual disability, severe
7253	TSHR	HP:0003745	Sporadic
7253	TSHR	HP:0001270	Motor delay
7253	TSHR	HP:0001254	Lethargy
7253	TSHR	HP:0001252	Hypotonia
7253	TSHR	HP:0001249	Intellectual disability
7253	TSHR	HP:0001265	Hyporeflexia
7253	TSHR	HP:0001263	Global developmental delay
7253	TSHR	HP:0031098	Decreased thyroid-stimulating hormone level
7253	TSHR	HP:0025379	Anti-thyroid peroxidase antibody positivity
7253	TSHR	HP:0008872	Feeding difficulties in infancy
7253	TSHR	HP:0008828	Delayed proximal femoral epiphyseal ossification
7253	TSHR	HP:0001324	Muscle weakness
7253	TSHR	HP:0000007	Autosomal recessive inheritance
7253	TSHR	HP:0000006	Autosomal dominant inheritance
7253	TSHR	HP:0012188	Hyperemesis gravidarum
7253	TSHR	HP:0025484	Increased circulating thyroglobulin level
7253	TSHR	HP:0000158	Macroglossia
7253	TSHR	HP:0025429	Abnormal cry
7253	TSHR	HP:0031219	Reduced radioactive iodine uptake
7253	TSHR	HP:0031220	Increased radioactive iodine uptake
7253	TSHR	HP:0002019	Constipation
7253	TSHR	HP:0005990	Thyroid hypoplasia
7253	TSHR	HP:0002014	Diarrhea
7253	TSHR	HP:0002045	Hypothermia
7253	TSHR	HP:0005930	Abnormal epiphysis morphology
7253	TSHR	HP:0008191	Thyroid agenesis
7253	TSHR	HP:0011788	Increased circulating free T3
7253	TSHR	HP:0011789	Impaired sensitivity to thyroid stimulating hormone
7253	TSHR	HP:0011784	Thyrotoxicosis with diffuse goiter
7253	TSHR	HP:0011790	Activating thyroid-stimulating hormone receptor defect
7253	TSHR	HP:0008249	Thyroid hyperplasia
7253	TSHR	HP:0008223	Compensated hypothyroidism
7253	TSHR	HP:0003577	Congenital onset
7253	TSHR	HP:0100786	Hypersomnia
7253	TSHR	HP:0011968	Feeding difficulties
7253	TSHR	HP:0032069	Anti-thyroglobulin antibody positivity
7253	TSHR	HP:0002360	Sleep disturbance
7253	TSHR	HP:0002378	Hand tremor
7253	TSHR	HP:0200028	Pretibial myxedema
7253	TSHR	HP:0003623	Neonatal onset
7253	TSHR	HP:0004322	Short stature
7253	TSHR	HP:0005616	Accelerated skeletal maturation
7253	TSHR	HP:0000752	Hyperactivity
7253	TSHR	HP:0000750	Delayed speech and language development
7253	TSHR	HP:0000713	Agitation
7253	TSHR	HP:0011437	Maternal autoimmune disease
7253	TSHR	HP:0004491	Large posterior fontanelle
7253	TSHR	HP:0000851	Congenital hypothyroidism
7253	TSHR	HP:0000853	Goiter
7253	TSHR	HP:0000836	Hyperthyroidism
7253	TSHR	HP:0000821	Hypothyroidism
7253	TSHR	HP:0003270	Abdominal distention
7253	TSHR	HP:0003265	Neonatal hyperbilirubinemia
7253	TSHR	HP:0000952	Jaundice
7253	TSHR	HP:0000969	Edema
7253	TSHR	HP:0000280	Coarse facial features
7253	TSHR	HP:0000271	Abnormality of the face
7253	TSHR	HP:0030057	Autoimmune antibody positivity
7253	TSHR	HP:0000239	Large fontanelles
7253	TSHR	HP:0001537	Umbilical hernia
7253	TSHR	HP:0001518	Small for gestational age
7253	TSHR	HP:0001510	Growth delay
7253	TSHR	HP:0031506	Increased circulating T4 concentration
7253	TSHR	HP:0031507	Decreased circulating T4 concentration
7253	TSHR	HP:0012378	Fatigue
7253	TSHR	HP:0012372	Abnormal eye morphology
7253	TSHR	HP:0006579	Prolonged neonatal jaundice
7253	TSHR	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7253	TSHR	HP:0001649	Tachycardia
7253	TSHR	HP:0001662	Bradycardia
7253	TSHR	HP:0001622	Premature birth
7253	TSHR	HP:0000520	Proptosis
7253	TSHR	HP:0001824	Weight loss
7258	TSPY1	HP:0008734	Decreased testicular size
7258	TSPY1	HP:0008669	Abnormal spermatogenesis
7258	TSPY1	HP:0000028	Cryptorchidism
7258	TSPY1	HP:0011961	Non-obstructive azoospermia
7258	TSPY1	HP:0000798	Oligospermia
7258	TSPY1	HP:0003251	Male infertility
7259	TSPYL1	HP:0001265	Hyporeflexia
7259	TSPYL1	HP:0008733	Dysplastic testes
7259	TSPYL1	HP:0008736	Hypoplasia of penis
7259	TSPYL1	HP:0008715	Testicular dysgenesis
7259	TSPYL1	HP:0008708	Partial development of the penile shaft
7259	TSPYL1	HP:0000062	Ambiguous genitalia
7259	TSPYL1	HP:0000046	Small scrotum
7259	TSPYL1	HP:0000033	Ambiguous genitalia, male
7259	TSPYL1	HP:0000028	Cryptorchidism
7259	TSPYL1	HP:0008872	Feeding difficulties in infancy
7259	TSPYL1	HP:0000007	Autosomal recessive inheritance
7259	TSPYL1	HP:0001336	Myoclonus
7259	TSPYL1	HP:0001308	Tongue fasciculations
7259	TSPYL1	HP:0025431	Staccato cry
7259	TSPYL1	HP:0025425	Laryngospasm
7259	TSPYL1	HP:0025428	Bronchospasm
7259	TSPYL1	HP:0002793	Abnormal pattern of respiration
7259	TSPYL1	HP:0002020	Gastroesophageal reflux
7259	TSPYL1	HP:0002045	Hypothermia
7259	TSPYL1	HP:0002104	Apnea
7259	TSPYL1	HP:0010535	Sleep apnea
7259	TSPYL1	HP:0002267	Exaggerated startle response
7259	TSPYL1	HP:0003593	Infantile onset
7259	TSPYL1	HP:0003623	Neonatal onset
7259	TSPYL1	HP:0000602	Ophthalmoplegia
7259	TSPYL1	HP:0010307	Stridor
7259	TSPYL1	HP:0011675	Arrhythmia
7259	TSPYL1	HP:0001522	Death in infancy
7259	TSPYL1	HP:0001510	Growth delay
7259	TSPYL1	HP:0006543	Cardiorespiratory arrest
7259	TSPYL1	HP:0001608	Abnormality of the voice
7259	TSPYL1	HP:0001695	Cardiac arrest
7259	TSPYL1	HP:0001699	Sudden death
7259	TSPYL1	HP:0012332	Abnormal autonomic nervous system physiology
7259	TSPYL1	HP:0001662	Bradycardia
7273	TTN	HP:0002460	Distal muscle weakness
7273	TTN	HP:0003789	Minicore myopathy
7273	TTN	HP:0002421	Poor head control
7273	TTN	HP:0003749	Pelvic girdle muscle weakness
7273	TTN	HP:0003731	Quadriceps muscle weakness
7273	TTN	HP:0003722	Neck flexor weakness
7273	TTN	HP:0003741	Congenital muscular dystrophy
7273	TTN	HP:0003701	Proximal muscle weakness
7273	TTN	HP:0003700	Generalized amyotrophy
7273	TTN	HP:0003715	Myofibrillar myopathy
7273	TTN	HP:0001290	Generalized hypotonia
7273	TTN	HP:0100807	Long fingers
7273	TTN	HP:0001270	Motor delay
7273	TTN	HP:0001288	Gait disturbance
7273	TTN	HP:0001284	Areflexia
7273	TTN	HP:0001256	Intellectual disability, mild
7273	TTN	HP:0001260	Dysarthria
7273	TTN	HP:0002515	Waddling gait
7273	TTN	HP:0002527	Falls
7273	TTN	HP:0003829	Typified by incomplete penetrance
7273	TTN	HP:0003805	Rimmed vacuoles
7273	TTN	HP:0003803	Type 1 muscle fiber predominance
7273	TTN	HP:0008800	Limited hip movement
7273	TTN	HP:0001385	Hip dysplasia
7273	TTN	HP:0001349	Facial diplegia
7273	TTN	HP:0000007	Autosomal recessive inheritance
7273	TTN	HP:0000006	Autosomal dominant inheritance
7273	TTN	HP:0002650	Scoliosis
7273	TTN	HP:0000193	Bifid uvula
7273	TTN	HP:0000160	Narrow mouth
7273	TTN	HP:0008994	Proximal muscle weakness in lower limbs
7273	TTN	HP:0008981	Calf muscle hypertrophy
7273	TTN	HP:0008978	Necrotizing myopathy
7273	TTN	HP:0008959	Distal upper limb muscle weakness
7273	TTN	HP:0008963	Tibialis muscle weakness
7273	TTN	HP:0002792	Reduced vital capacity
7273	TTN	HP:0031237	Internally nucleated skeletal muscle fibers
7273	TTN	HP:0002747	Respiratory insufficiency due to muscle weakness
7273	TTN	HP:0005991	Limited neck flexion
7273	TTN	HP:0003327	Axial muscle weakness
7273	TTN	HP:0003307	Hyperlordosis
7273	TTN	HP:0003306	Spinal rigidity
7273	TTN	HP:0003323	Progressive muscle weakness
7273	TTN	HP:0003324	Generalized muscle weakness
7273	TTN	HP:0002094	Dyspnea
7273	TTN	HP:0002093	Respiratory insufficiency
7273	TTN	HP:0002091	Restrictive ventilatory defect
7273	TTN	HP:0003391	Gowers sign
7273	TTN	HP:0003376	Steppage gait
7273	TTN	HP:0100578	Lipoatrophy
7273	TTN	HP:0011717	Atrioventricular reentrant tachycardia
7273	TTN	HP:0008180	Mildly elevated creatine kinase
7273	TTN	HP:0003457	EMG abnormality
7273	TTN	HP:0003458	EMG: myopathic abnormalities
7273	TTN	HP:0004756	Ventricular tachycardia
7273	TTN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
7273	TTN	HP:0002194	Delayed gross motor development
7273	TTN	HP:0003596	Middle age onset
7273	TTN	HP:0003593	Infantile onset
7273	TTN	HP:0003581	Adult onset
7273	TTN	HP:0003555	Muscle fiber splitting
7273	TTN	HP:0003551	Difficulty climbing stairs
7273	TTN	HP:0003547	Shoulder girdle muscle weakness
7273	TTN	HP:0003560	Muscular dystrophy
7273	TTN	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
7273	TTN	HP:0003557	Increased variability in muscle fiber diameter
7273	TTN	HP:0010628	Facial palsy
7273	TTN	HP:0003691	Scapular winging
7273	TTN	HP:0002359	Frequent falls
7273	TTN	HP:0003676	Progressive
7273	TTN	HP:0002355	Difficulty walking
7273	TTN	HP:0003687	Centrally nucleated skeletal muscle fibers
7273	TTN	HP:0003677	Slowly progressive
7273	TTN	HP:0003623	Neonatal onset
7273	TTN	HP:0002312	Clumsiness
7273	TTN	HP:0009077	Weakness of long finger extensor muscles
7273	TTN	HP:0000602	Ophthalmoplegia
7273	TTN	HP:0009058	Increased muscle lipid content
7273	TTN	HP:0009046	Difficulty running
7273	TTN	HP:0009049	Peroneal muscle atrophy
7273	TTN	HP:0012664	Reduced left ventricular ejection fraction
7273	TTN	HP:0012666	Severely reduced left ventricular ejection fraction
7273	TTN	HP:0009027	Foot dorsiflexor weakness
7273	TTN	HP:0001999	Abnormal facial shape
7273	TTN	HP:0004322	Short stature
7273	TTN	HP:0000750	Delayed speech and language development
7273	TTN	HP:0011463	Childhood onset
7273	TTN	HP:0012764	Orthopnea
7273	TTN	HP:0009113	Diaphragmatic weakness
7273	TTN	HP:0003198	Myopathy
7273	TTN	HP:0003236	Elevated circulating creatine kinase concentration
7273	TTN	HP:0003202	Skeletal muscle atrophy
7273	TTN	HP:0034392	Joint contracture
7273	TTN	HP:0003273	Hip contracture
7273	TTN	HP:0000982	Palmoplantar keratoderma
7273	TTN	HP:0100295	Muscle fiber atrophy
7273	TTN	HP:0100293	Hypertrophied muscle fibers
7273	TTN	HP:0100297	Increased endomysial connective tissue
7273	TTN	HP:0011675	Arrhythmia
7273	TTN	HP:0000278	Retrognathia
7273	TTN	HP:0000276	Long face
7273	TTN	HP:0005110	Atrial fibrillation
7273	TTN	HP:0030059	Mitochondrial depletion
7273	TTN	HP:0002828	Multiple joint contractures
7273	TTN	HP:0030091	Absent muscle fiber merosin
7273	TTN	HP:0002878	Respiratory failure
7273	TTN	HP:0000218	High palate
7273	TTN	HP:0002877	Nocturnal hypoventilation
7273	TTN	HP:0001508	Failure to thrive
7273	TTN	HP:0031374	Ankle weakness
7273	TTN	HP:0001618	Dysphonia
7273	TTN	HP:0001667	Right ventricular hypertrophy
7273	TTN	HP:0001678	Atrioventricular block
7273	TTN	HP:0001645	Sudden cardiac death
7273	TTN	HP:0001644	Dilated cardiomyopathy
7273	TTN	HP:0001654	Abnormal heart valve morphology
7273	TTN	HP:0001620	High pitched voice
7273	TTN	HP:0000308	Microretrognathia
7273	TTN	HP:0001639	Hypertrophic cardiomyopathy
7273	TTN	HP:0001635	Congestive heart failure
7273	TTN	HP:0001638	Cardiomyopathy
7273	TTN	HP:0000303	Mandibular prognathia
7273	TTN	HP:0001634	Mitral valve prolapse
7273	TTN	HP:0030319	Weakness of facial musculature
7273	TTN	HP:0006699	Premature atrial contractions
7273	TTN	HP:0000407	Sensorineural hearing impairment
7273	TTN	HP:0001708	Right ventricular failure
7273	TTN	HP:0001712	Left ventricular hypertrophy
7273	TTN	HP:0001771	Achilles tendon contracture
7273	TTN	HP:0001763	Pes planus
7273	TTN	HP:0000411	Protruding ear
7273	TTN	HP:0001762	Talipes equinovarus
7273	TTN	HP:0001761	Pes cavus
7273	TTN	HP:0025708	Early young adult onset
7273	TTN	HP:0000508	Ptosis
7273	TTN	HP:0000597	Ophthalmoparesis
7273	TTN	HP:0012548	Fatty replacement of skeletal muscle
7273	TTN	HP:0001874	Abnormality of neutrophils
7274	TTPA	HP:0001114	Xanthelasma
7274	TTPA	HP:0007256	Abnormal pyramidal sign
7274	TTPA	HP:0010874	Tendon xanthomatosis
7274	TTPA	HP:0002403	Positive Romberg sign
7274	TTPA	HP:0001276	Hypertonia
7274	TTPA	HP:0001272	Cerebellar atrophy
7274	TTPA	HP:0001268	Mental deterioration
7274	TTPA	HP:0001288	Gait disturbance
7274	TTPA	HP:0001284	Areflexia
7274	TTPA	HP:0001251	Ataxia
7274	TTPA	HP:0001260	Dysarthria
7274	TTPA	HP:0033687	Short term memory impairment
7274	TTPA	HP:0001332	Dystonia
7274	TTPA	HP:0001324	Muscle weakness
7274	TTPA	HP:0000007	Autosomal recessive inheritance
7274	TTPA	HP:0001337	Tremor
7274	TTPA	HP:0001310	Dysmetria
7274	TTPA	HP:0002650	Scoliosis
7274	TTPA	HP:0002075	Dysdiadochokinesis
7274	TTPA	HP:0002073	Progressive cerebellar ataxia
7274	TTPA	HP:0100513	Low levels of vitamin E
7274	TTPA	HP:0002155	Hypertriglyceridemia
7274	TTPA	HP:0002167	Abnormality of speech or vocalization
7274	TTPA	HP:0002376	Developmental regression
7274	TTPA	HP:0010831	Impaired proprioception
7274	TTPA	HP:0009830	Peripheral neuropathy
7274	TTPA	HP:0002312	Clumsiness
7274	TTPA	HP:0003621	Juvenile onset
7274	TTPA	HP:0000639	Nystagmus
7274	TTPA	HP:0000649	Abnormality of visual evoked potentials
7274	TTPA	HP:0000662	Nyctalopia
7274	TTPA	HP:0004374	Hemiplegia/hemiparesis
7274	TTPA	HP:0000763	Sensory neuropathy
7274	TTPA	HP:0003124	Hypercholesterolemia
7274	TTPA	HP:0003141	Increased LDL cholesterol concentration
7274	TTPA	HP:0000819	Diabetes mellitus
7274	TTPA	HP:0003202	Skeletal muscle atrophy
7274	TTPA	HP:0100291	Abnormality of central somatosensory evoked potentials
7274	TTPA	HP:0011675	Arrhythmia
7274	TTPA	HP:0007703	Abnormality of retinal pigmentation
7274	TTPA	HP:0001639	Hypertrophic cardiomyopathy
7274	TTPA	HP:0001761	Pes cavus
7274	TTPA	HP:0000505	Visual impairment
7275	TUB	HP:0001249	Intellectual disability
7275	TUB	HP:0008736	Hypoplasia of penis
7275	TUB	HP:0001347	Hyperreflexia
7275	TUB	HP:0000035	Abnormal testis morphology
7275	TUB	HP:0000007	Autosomal recessive inheritance
7275	TUB	HP:0000135	Hypogonadism
7275	TUB	HP:0007675	Progressive night blindness
7275	TUB	HP:0007663	Reduced visual acuity
7275	TUB	HP:0500087	Peripapillary atrophy
7275	TUB	HP:0005978	Type II diabetes mellitus
7275	TUB	HP:0032027	Retinal dots
7275	TUB	HP:0003621	Juvenile onset
7275	TUB	HP:0000639	Nystagmus
7275	TUB	HP:0000648	Optic atrophy
7275	TUB	HP:0000618	Blindness
7275	TUB	HP:0000613	Photophobia
7275	TUB	HP:0000602	Ophthalmoplegia
7275	TUB	HP:0000842	Hyperinsulinemia
7275	TUB	HP:0000987	Atypical scarring of skin
7275	TUB	HP:0008046	Abnormal retinal vascular morphology
7275	TUB	HP:0007722	Retinal pigment epithelial atrophy
7275	TUB	HP:0007703	Abnormality of retinal pigmentation
7275	TUB	HP:0001513	Obesity
7275	TUB	HP:0007843	Attenuation of retinal blood vessels
7275	TUB	HP:0000407	Sensorineural hearing impairment
7275	TUB	HP:0000405	Conductive hearing impairment
7275	TUB	HP:0000483	Astigmatism
7275	TUB	HP:0000463	Anteverted nares
7275	TUB	HP:0000431	Wide nasal bridge
7275	TUB	HP:0000518	Cataract
7275	TUB	HP:0000512	Abnormal electroretinogram
7275	TUB	HP:0000505	Visual impairment
7275	TUB	HP:0000501	Glaucoma
7275	TUB	HP:0000563	Keratoconus
7275	TUB	HP:0000556	Retinal dystrophy
7275	TUB	HP:0000541	Retinal detachment
7275	TUB	HP:0000545	Myopia
7276	TTR	HP:0410174	Increased circulating troponin T concentration
7276	TTR	HP:0002401	Stroke-like episode
7276	TTR	HP:0001297	Stroke
7276	TTR	HP:0001271	Polyneuropathy
7276	TTR	HP:0001269	Hemiparesis
7276	TTR	HP:0100832	Vitreous floaters
7276	TTR	HP:0001250	Seizure
7276	TTR	HP:0001251	Ataxia
7276	TTR	HP:0001265	Hyporeflexia
7276	TTR	HP:0001260	Dysarthria
7276	TTR	HP:0001257	Spasticity
7276	TTR	HP:0000020	Urinary incontinence
7276	TTR	HP:0031185	Increased circulating NT-proBNP concentration
7276	TTR	HP:0001324	Muscle weakness
7276	TTR	HP:0001337	Tremor
7276	TTR	HP:0000006	Autosomal dominant inheritance
7276	TTR	HP:0012185	Constrictive median neuropathy
7276	TTR	HP:0000112	Nephropathy
7276	TTR	HP:0002019	Constipation
7276	TTR	HP:0002014	Diarrhea
7276	TTR	HP:0100550	Tendon rupture
7276	TTR	HP:0003477	Peripheral axonal neuropathy
7276	TTR	HP:0003416	Spinal canal stenosis
7276	TTR	HP:0008247	Euthyroid hyperthyroxinemia
7276	TTR	HP:0010550	Paraplegia
7276	TTR	HP:0003581	Adult onset
7276	TTR	HP:0008326	Reduced circulating vitamin B6 level
7276	TTR	HP:0032070	Leptomeningeal enhancement
7276	TTR	HP:0003676	Progressive
7276	TTR	HP:0002315	Headache
7276	TTR	HP:0009830	Peripheral neuropathy
7276	TTR	HP:0025028	Abnormality of enteric nervous system morphology
7276	TTR	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
7276	TTR	HP:0000639	Nystagmus
7276	TTR	HP:0001907	Thromboembolism
7276	TTR	HP:0001903	Anemia
7276	TTR	HP:0012664	Reduced left ventricular ejection fraction
7276	TTR	HP:0000802	Impotence
7276	TTR	HP:0000726	Dementia
7276	TTR	HP:0003115	Abnormal EKG
7276	TTR	HP:0030843	Cardiac amyloidosis
7276	TTR	HP:0011675	Arrhythmia
7276	TTR	HP:0012276	Digital flexor tenosynovitis
7276	TTR	HP:0012211	Abnormal renal physiology
7276	TTR	HP:0007841	Amyloid deposition in the vitreous humor
7276	TTR	HP:0011034	Amyloidosis
7276	TTR	HP:0002922	Increased CSF protein concentration
7276	TTR	HP:0005150	Abnormal atrioventricular conduction
7276	TTR	HP:0000365	Hearing impairment
7276	TTR	HP:0001692	Atrial arrhythmia
7276	TTR	HP:0012332	Abnormal autonomic nervous system physiology
7276	TTR	HP:0001681	Angina pectoris
7276	TTR	HP:0001678	Atrioventricular block
7276	TTR	HP:0001650	Aortic valve stenosis
7276	TTR	HP:0001640	Cardiomegaly
7276	TTR	HP:0001639	Hypertrophic cardiomyopathy
7276	TTR	HP:0001635	Congestive heart failure
7276	TTR	HP:0001638	Cardiomyopathy
7276	TTR	HP:0001723	Restrictive cardiomyopathy
7276	TTR	HP:0001712	Left ventricular hypertrophy
7276	TTR	HP:0001824	Weight loss
7276	TTR	HP:0000505	Visual impairment
7277	TUBA4A	HP:0007354	Amyotrophic lateral sclerosis
7277	TUBA4A	HP:0000006	Autosomal dominant inheritance
7277	TUBA4A	HP:0002145	Frontotemporal dementia
7277	TUBA4A	HP:0003596	Middle age onset
7277	TUBA4A	HP:0003584	Late onset
7280	TUBB2A	HP:0009879	Simplified gyral pattern
7280	TUBB2A	HP:0001290	Generalized hypotonia
7280	TUBB2A	HP:0001250	Seizure
7280	TUBB2A	HP:0001252	Hypotonia
7280	TUBB2A	HP:0002539	Cortical dysplasia
7280	TUBB2A	HP:0002521	Hypsarrhythmia
7280	TUBB2A	HP:0001344	Absent speech
7280	TUBB2A	HP:0000006	Autosomal dominant inheritance
7280	TUBB2A	HP:0001320	Cerebellar vermis hypoplasia
7280	TUBB2A	HP:0002079	Hypoplasia of the corpus callosum
7280	TUBB2A	HP:0002119	Ventriculomegaly
7280	TUBB2A	HP:0003593	Infantile onset
7280	TUBB2A	HP:0002365	Hypoplasia of the brainstem
7280	TUBB2A	HP:0010841	Multifocal epileptiform discharges
7280	TUBB2A	HP:0011344	Severe global developmental delay
7280	TUBB2A	HP:0034295	Reduced cerebral white matter volume
7280	TUBB2A	HP:0012469	Infantile spasms
7280	TUBB2A	HP:0005445	Enlarged posterior fossa
7283	TUBG1	HP:0001270	Motor delay
7283	TUBG1	HP:0001250	Seizure
7283	TUBG1	HP:0001251	Ataxia
7283	TUBG1	HP:0001249	Intellectual disability
7283	TUBG1	HP:0001263	Global developmental delay
7283	TUBG1	HP:0410263	Brain imaging abnormality
7283	TUBG1	HP:0002510	Spastic tetraplegia
7283	TUBG1	HP:0033725	Thin corpus callosum
7283	TUBG1	HP:0032409	Subcortical band heterotopia
7283	TUBG1	HP:0000006	Autosomal dominant inheritance
7283	TUBG1	HP:0001302	Pachygyria
7283	TUBG1	HP:0000174	Abnormal palate morphology
7283	TUBG1	HP:0002198	Dilated fourth ventricle
7283	TUBG1	HP:0002172	Postural instability
7283	TUBG1	HP:0010522	Dyslexia
7283	TUBG1	HP:0100716	Self-injurious behavior
7283	TUBG1	HP:0100753	Schizophrenia
7283	TUBG1	HP:0007018	Attention deficit hyperactivity disorder
7283	TUBG1	HP:0007074	Thick corpus callosum
7283	TUBG1	HP:0002370	Poor coordination
7283	TUBG1	HP:0002354	Memory impairment
7283	TUBG1	HP:0031882	Agyria
7283	TUBG1	HP:0006891	Thick cerebral cortex
7283	TUBG1	HP:0001999	Abnormal facial shape
7283	TUBG1	HP:0000736	Short attention span
7283	TUBG1	HP:0000750	Delayed speech and language development
7283	TUBG1	HP:0000717	Autism
7283	TUBG1	HP:0000729	Autistic behavior
7283	TUBG1	HP:0000708	Atypical behavior
7283	TUBG1	HP:0000252	Microcephaly
7283	TUBG1	HP:0000377	Abnormal pinna morphology
7283	TUBG1	HP:0005160	Total anomalous pulmonary venous return
7283	TUBG1	HP:0000337	Broad forehead
7283	TUBG1	HP:0001680	Coarctation of aorta
7283	TUBG1	HP:0001629	Ventricular septal defect
7283	TUBG1	HP:0001627	Abnormal heart morphology
7283	TUBG1	HP:0001636	Tetralogy of Fallot
7283	TUBG1	HP:0001631	Atrial septal defect
7283	TUBG1	HP:0012469	Infantile spasms
7283	TUBG1	HP:0000518	Cataract
7284	TUFM	HP:0002415	Leukodystrophy
7284	TUFM	HP:0001298	Encephalopathy
7284	TUFM	HP:0001257	Spasticity
7284	TUFM	HP:0000007	Autosomal recessive inheritance
7284	TUFM	HP:0001319	Neonatal hypotonia
7284	TUFM	HP:0002151	Increased serum lactate
7284	TUFM	HP:0002126	Polymicrogyria
7284	TUFM	HP:0002179	Opisthotonus
7284	TUFM	HP:0003593	Infantile onset
7284	TUFM	HP:0002240	Hepatomegaly
7284	TUFM	HP:0002376	Developmental regression
7284	TUFM	HP:0000639	Nystagmus
7284	TUFM	HP:0001942	Metabolic acidosis
7284	TUFM	HP:0001987	Hyperammonemia
7284	TUFM	HP:0003128	Lactic acidosis
7284	TUFM	HP:0000252	Microcephaly
7284	TUFM	HP:0002878	Respiratory failure
7284	TUFM	HP:0001522	Death in infancy
7284	TUFM	HP:0001511	Intrauterine growth retardation
7287	TULP1	HP:0001133	Constriction of peripheral visual field
7287	TULP1	HP:0001141	Severely reduced visual acuity
7287	TULP1	HP:0001250	Seizure
7287	TULP1	HP:0001252	Hypotonia
7287	TULP1	HP:0001249	Intellectual disability
7287	TULP1	HP:0001263	Global developmental delay
7287	TULP1	HP:0008736	Hypoplasia of penis
7287	TULP1	HP:0012047	Hemeralopia
7287	TULP1	HP:0001347	Hyperreflexia
7287	TULP1	HP:0000035	Abnormal testis morphology
7287	TULP1	HP:0000007	Autosomal recessive inheritance
7287	TULP1	HP:0000135	Hypogonadism
7287	TULP1	HP:0001483	Eye poking
7287	TULP1	HP:0007675	Progressive night blindness
7287	TULP1	HP:0007663	Reduced visual acuity
7287	TULP1	HP:0500087	Peripapillary atrophy
7287	TULP1	HP:0005978	Type II diabetes mellitus
7287	TULP1	HP:0002084	Encephalocele
7287	TULP1	HP:0003593	Infantile onset
7287	TULP1	HP:0002269	Abnormality of neuronal migration
7287	TULP1	HP:0003577	Congenital onset
7287	TULP1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
7287	TULP1	HP:0000639	Nystagmus
7287	TULP1	HP:0000648	Optic atrophy
7287	TULP1	HP:0000618	Blindness
7287	TULP1	HP:0000613	Photophobia
7287	TULP1	HP:0000602	Ophthalmoplegia
7287	TULP1	HP:0000662	Nyctalopia
7287	TULP1	HP:0004374	Hemiplegia/hemiparesis
7287	TULP1	HP:0012795	Abnormal optic disc morphology
7287	TULP1	HP:0000842	Hyperinsulinemia
7287	TULP1	HP:0000987	Atypical scarring of skin
7287	TULP1	HP:0034362	Dull foveal reflex
7287	TULP1	HP:0008043	Retinal arteriolar constriction
7287	TULP1	HP:0008046	Abnormal retinal vascular morphology
7287	TULP1	HP:0007703	Abnormality of retinal pigmentation
7287	TULP1	HP:0007787	Posterior subcapsular cataract
7287	TULP1	HP:0007772	Impaired smooth pursuit
7287	TULP1	HP:0007737	Bone spicule pigmentation of the retina
7287	TULP1	HP:0001513	Obesity
7287	TULP1	HP:0007843	Attenuation of retinal blood vessels
7287	TULP1	HP:0000365	Hearing impairment
7287	TULP1	HP:0000407	Sensorineural hearing impairment
7287	TULP1	HP:0000405	Conductive hearing impairment
7287	TULP1	HP:0030211	Slow pupillary light response
7287	TULP1	HP:0000463	Anteverted nares
7287	TULP1	HP:0000431	Wide nasal bridge
7287	TULP1	HP:0000518	Cataract
7287	TULP1	HP:0000510	Rod-cone dystrophy
7287	TULP1	HP:0000512	Abnormal electroretinogram
7287	TULP1	HP:0000505	Visual impairment
7287	TULP1	HP:0000501	Glaucoma
7287	TULP1	HP:0000580	Pigmentary retinopathy
7287	TULP1	HP:0000563	Keratoconus
7287	TULP1	HP:0000540	Hypermetropia
7287	TULP1	HP:0000550	Undetectable electroretinogram
7287	TULP1	HP:0000551	Color vision defect
7287	TULP1	HP:0000546	Retinal degeneration
7287	TULP1	HP:0000543	Optic disc pallor
7287	TULP1	HP:0000545	Myopia
7289	TULP3	HP:0002480	Hepatic encephalopathy
7289	TULP3	HP:0001394	Cirrhosis
7289	TULP3	HP:0000007	Autosomal recessive inheritance
7289	TULP3	HP:0032622	Tubular luminal dilatation
7289	TULP3	HP:0000107	Renal cyst
7289	TULP3	HP:0001433	Hepatosplenomegaly
7289	TULP3	HP:0000105	Enlarged kidney
7289	TULP3	HP:0001409	Portal hypertension
7289	TULP3	HP:0001402	Hepatocellular carcinoma
7289	TULP3	HP:0004719	Hyperechogenic kidneys
7289	TULP3	HP:0003593	Infantile onset
7289	TULP3	HP:0003621	Juvenile onset
7289	TULP3	HP:0005565	Reduced renal corticomedullary differentiation
7289	TULP3	HP:0001971	Hypersplenism
7289	TULP3	HP:0011463	Childhood onset
7289	TULP3	HP:0011462	Young adult onset
7289	TULP3	HP:0012852	Hepatic bridging fibrosis
7289	TULP3	HP:0000952	Jaundice
7289	TULP3	HP:0002910	Elevated hepatic transaminase
7289	TULP3	HP:0001639	Hypertrophic cardiomyopathy
7289	TULP3	HP:0032948	Renal interstitial fibrosis
7290	HIRA	HP:0001166	Arachnodactyly
7290	HIRA	HP:0001161	Hand polydactyly
7290	HIRA	HP:0001136	Retinal arteriolar tortuosity
7290	HIRA	HP:0002435	Meningocele
7290	HIRA	HP:0007302	Bipolar affective disorder
7290	HIRA	HP:0007271	Occipital myelomeningocele
7290	HIRA	HP:0002414	Spina bifida
7290	HIRA	HP:0001281	Tetany
7290	HIRA	HP:0001256	Intellectual disability, mild
7290	HIRA	HP:0001250	Seizure
7290	HIRA	HP:0001252	Hypotonia
7290	HIRA	HP:0001249	Intellectual disability
7290	HIRA	HP:0001263	Global developmental delay
7290	HIRA	HP:0002566	Intestinal malrotation
7290	HIRA	HP:0000089	Renal hypoplasia
7290	HIRA	HP:0000076	Vesicoureteral reflux
7290	HIRA	HP:0001369	Arthritis
7290	HIRA	HP:0000047	Hypospadias
7290	HIRA	HP:0000023	Inguinal hernia
7290	HIRA	HP:0002691	Platybasia
7290	HIRA	HP:0000028	Cryptorchidism
7290	HIRA	HP:0008872	Feeding difficulties in infancy
7290	HIRA	HP:0001328	Specific learning disability
7290	HIRA	HP:0002650	Scoliosis
7290	HIRA	HP:0002619	Varicose veins
7290	HIRA	HP:0002607	Bowel incontinence
7290	HIRA	HP:0000164	Abnormality of the dentition
7290	HIRA	HP:0000160	Narrow mouth
7290	HIRA	HP:0000175	Cleft palate
7290	HIRA	HP:0000113	Polycystic kidney dysplasia
7290	HIRA	HP:0000130	Abnormality of the uterus
7290	HIRA	HP:0002721	Immunodeficiency
7290	HIRA	HP:0002023	Anal atresia
7290	HIRA	HP:0002020	Gastroesophageal reflux
7290	HIRA	HP:0002019	Constipation
7290	HIRA	HP:0003326	Myalgia
7290	HIRA	HP:0002099	Asthma
7290	HIRA	HP:0002139	Arrhinencephaly
7290	HIRA	HP:0002101	Abnormal lung lobation
7290	HIRA	HP:0002239	Gastrointestinal hemorrhage
7290	HIRA	HP:0002251	Aganglionic megacolon
7290	HIRA	HP:0100765	Abnormality of the tonsils
7290	HIRA	HP:0100735	Hypertensive crisis
7290	HIRA	HP:0100750	Atelectasis
7290	HIRA	HP:0100753	Schizophrenia
7290	HIRA	HP:0007018	Attention deficit hyperactivity disorder
7290	HIRA	HP:0001051	Seborrheic dermatitis
7290	HIRA	HP:0001053	Hypopigmented skin patches
7290	HIRA	HP:0002381	Aphasia
7290	HIRA	HP:0001061	Acne
7290	HIRA	HP:0001081	Cholelithiasis
7290	HIRA	HP:0005562	Multiple renal cysts
7290	HIRA	HP:0000648	Optic atrophy
7290	HIRA	HP:0000627	Posterior embryotoxon
7290	HIRA	HP:0000600	Abnormality of the pharynx
7290	HIRA	HP:0000682	Abnormal dental enamel morphology
7290	HIRA	HP:0011324	Multiple suture craniosynostosis
7290	HIRA	HP:0000670	Carious teeth
7290	HIRA	HP:0001999	Abnormal facial shape
7290	HIRA	HP:0004322	Short stature
7290	HIRA	HP:0030680	Abnormality of cardiovascular system morphology
7290	HIRA	HP:0005692	Joint hyperflexibility
7290	HIRA	HP:0012732	Anorectal anomaly
7290	HIRA	HP:0000765	Abnormal thorax morphology
7290	HIRA	HP:0000739	Anxiety
7290	HIRA	HP:0000716	Depression
7290	HIRA	HP:0000717	Autism
7290	HIRA	HP:0000708	Atypical behavior
7290	HIRA	HP:0011496	Corneal neovascularization
7290	HIRA	HP:0000778	Hypoplasia of the thymus
7290	HIRA	HP:0000929	Abnormal skull morphology
7290	HIRA	HP:0000836	Hyperthyroidism
7290	HIRA	HP:0000829	Hypoparathyroidism
7290	HIRA	HP:0000821	Hypothyroidism
7290	HIRA	HP:0011662	Tricuspid atresia
7290	HIRA	HP:0000979	Purpura
7290	HIRA	HP:0000286	Epicanthus
7290	HIRA	HP:0000262	Turricephaly
7290	HIRA	HP:0000276	Long face
7290	HIRA	HP:0000272	Malar flattening
7290	HIRA	HP:0000238	Hydrocephalus
7290	HIRA	HP:0000252	Microcephaly
7290	HIRA	HP:0001561	Polyhydramnios
7290	HIRA	HP:0001537	Umbilical hernia
7290	HIRA	HP:0001508	Failure to thrive
7290	HIRA	HP:0001511	Intrauterine growth retardation
7290	HIRA	HP:0001513	Obesity
7290	HIRA	HP:0006510	Chronic pulmonary obstruction
7290	HIRA	HP:0000385	Small earlobe
7290	HIRA	HP:0000396	Overfolded helix
7290	HIRA	HP:0000389	Chronic otitis media
7290	HIRA	HP:0001601	Laryngomalacia
7290	HIRA	HP:0001611	Hypernasal speech
7290	HIRA	HP:0002901	Hypocalcemia
7290	HIRA	HP:0000365	Hearing impairment
7290	HIRA	HP:0000369	Low-set ears
7290	HIRA	HP:0000343	Long philtrum
7290	HIRA	HP:0002999	Patellar dislocation
7290	HIRA	HP:0000347	Micrognathia
7290	HIRA	HP:0012303	Abnormal aortic arch morphology
7290	HIRA	HP:0000316	Hypertelorism
7290	HIRA	HP:0001646	Abnormal aortic valve morphology
7290	HIRA	HP:0001643	Patent ductus arteriosus
7290	HIRA	HP:0001660	Truncus arteriosus
7290	HIRA	HP:0000322	Short philtrum
7290	HIRA	HP:0002960	Autoimmunity
7290	HIRA	HP:0001629	Ventricular septal defect
7290	HIRA	HP:0001641	Abnormal pulmonary valve morphology
7290	HIRA	HP:0001636	Tetralogy of Fallot
7290	HIRA	HP:0001631	Atrial septal defect
7290	HIRA	HP:0000405	Conductive hearing impairment
7290	HIRA	HP:0000486	Strabismus
7290	HIRA	HP:0000494	Downslanted palpebral fissures
7290	HIRA	HP:0000492	Abnormal eyelid morphology
7290	HIRA	HP:0000470	Short neck
7290	HIRA	HP:0000453	Choanal atresia
7290	HIRA	HP:0000414	Bulbous nose
7290	HIRA	HP:0001744	Splenomegaly
7290	HIRA	HP:0001762	Talipes equinovarus
7290	HIRA	HP:0000431	Wide nasal bridge
7290	HIRA	HP:0000426	Prominent nasal bridge
7290	HIRA	HP:0005435	Impaired T cell function
7290	HIRA	HP:0000518	Cataract
7290	HIRA	HP:0001829	Foot polydactyly
7290	HIRA	HP:0000506	Telecanthus
7290	HIRA	HP:0000508	Ptosis
7290	HIRA	HP:0000501	Glaucoma
7290	HIRA	HP:0000582	Upslanted palpebral fissure
7290	HIRA	HP:0000568	Microphthalmia
7290	HIRA	HP:0001872	Abnormality of thrombocytes
7290	HIRA	HP:0001873	Thrombocytopenia
7291	TWIST1	HP:0009901	Crumpled ear
7291	TWIST1	HP:0001156	Brachydactyly
7291	TWIST1	HP:0001159	Syndactyly
7291	TWIST1	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger
7291	TWIST1	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger
7291	TWIST1	HP:0001199	Triphalangeal thumb
7291	TWIST1	HP:0009909	Uplifted earlobe
7291	TWIST1	HP:0008572	External ear malformation
7291	TWIST1	HP:0009891	Underdeveloped supraorbital ridges
7291	TWIST1	HP:0009899	Prominent crus of helix
7291	TWIST1	HP:0009882	Short distal phalanx of finger
7291	TWIST1	HP:0008551	Microtia
7291	TWIST1	HP:0100807	Long fingers
7291	TWIST1	HP:0001250	Seizure
7291	TWIST1	HP:0001249	Intellectual disability
7291	TWIST1	HP:0001263	Global developmental delay
7291	TWIST1	HP:0006101	Finger syndactyly
7291	TWIST1	HP:0008689	Bilateral cryptorchidism
7291	TWIST1	HP:0002516	Increased intracranial pressure
7291	TWIST1	HP:0003828	Variable expressivity
7291	TWIST1	HP:0002678	Skull asymmetry
7291	TWIST1	HP:0002697	Parietal foramina
7291	TWIST1	HP:0001363	Craniosynostosis
7291	TWIST1	HP:0001357	Plagiocephaly
7291	TWIST1	HP:0000028	Cryptorchidism
7291	TWIST1	HP:0000006	Autosomal dominant inheritance
7291	TWIST1	HP:0002650	Scoliosis
7291	TWIST1	HP:0001321	Cerebellar hypoplasia
7291	TWIST1	HP:0002644	Abnormal pelvic girdle bone morphology
7291	TWIST1	HP:0000189	Narrow palate
7291	TWIST1	HP:0000160	Narrow mouth
7291	TWIST1	HP:0001488	Bilateral ptosis
7291	TWIST1	HP:0000175	Cleft palate
7291	TWIST1	HP:0007598	Bilateral single transverse palmar creases
7291	TWIST1	HP:0002023	Anal atresia
7291	TWIST1	HP:0002020	Gastroesophageal reflux
7291	TWIST1	HP:0002000	Short columella
7291	TWIST1	HP:0002007	Frontal bossing
7291	TWIST1	HP:0003312	Abnormal form of the vertebral bodies
7291	TWIST1	HP:0003307	Hyperlordosis
7291	TWIST1	HP:0011800	Midface retrusion
7291	TWIST1	HP:0002076	Migraine
7291	TWIST1	HP:0010535	Sleep apnea
7291	TWIST1	HP:0003593	Infantile onset
7291	TWIST1	HP:0003577	Congenital onset
7291	TWIST1	HP:0002230	Generalized hirsutism
7291	TWIST1	HP:0009738	Abnormal antihelix morphology
7291	TWIST1	HP:0010720	Abnormal hair pattern
7291	TWIST1	HP:0010715	2-5 toe syndactyly
7291	TWIST1	HP:0010709	2-4 finger syndactyly
7291	TWIST1	HP:0009701	Metacarpal synostosis
7291	TWIST1	HP:0002342	Intellectual disability, moderate
7291	TWIST1	HP:0010807	Open bite
7291	TWIST1	HP:0009765	Low hanging columella
7291	TWIST1	HP:0004209	Clinodactyly of the 5th finger
7291	TWIST1	HP:0010084	Duplication of the distal phalanx of the hallux
7291	TWIST1	HP:0009099	Median cleft palate
7291	TWIST1	HP:0000636	Upper eyelid coloboma
7291	TWIST1	HP:0000646	Amblyopia
7291	TWIST1	HP:0000648	Optic atrophy
7291	TWIST1	HP:0000643	Blepharospasm
7291	TWIST1	HP:0000614	Abnormal nasolacrimal system morphology
7291	TWIST1	HP:0000601	Hypotelorism
7291	TWIST1	HP:0011386	Narrow internal auditory canal
7291	TWIST1	HP:0010055	Broad hallux
7291	TWIST1	HP:0011325	Pansynostosis
7291	TWIST1	HP:0011323	Cleft of chin
7291	TWIST1	HP:0011317	Right unicoronal synostosis
7291	TWIST1	HP:0011304	Broad thumb
7291	TWIST1	HP:0004322	Short stature
7291	TWIST1	HP:0005650	2-5 finger cutaneous syndactyly
7291	TWIST1	HP:0003002	Breast carcinoma
7291	TWIST1	HP:0030680	Abnormality of cardiovascular system morphology
7291	TWIST1	HP:0000750	Delayed speech and language development
7291	TWIST1	HP:0010104	Absent first metatarsal
7291	TWIST1	HP:0000774	Narrow chest
7291	TWIST1	HP:0004443	Lambdoidal craniosynostosis
7291	TWIST1	HP:0004442	Sagittal craniosynostosis
7291	TWIST1	HP:0004440	Coronal craniosynostosis
7291	TWIST1	HP:0004422	Biparietal narrowing
7291	TWIST1	HP:0004425	Flat forehead
7291	TWIST1	HP:0030799	Scaphocephaly
7291	TWIST1	HP:0000929	Abnormal skull morphology
7291	TWIST1	HP:0003189	Long nose
7291	TWIST1	HP:0000894	Short clavicles
7291	TWIST1	HP:0000286	Epicanthus
7291	TWIST1	HP:0000294	Low anterior hairline
7291	TWIST1	HP:0000263	Oxycephaly
7291	TWIST1	HP:0000260	Wide anterior fontanel
7291	TWIST1	HP:0000262	Turricephaly
7291	TWIST1	HP:0000270	Delayed cranial suture closure
7291	TWIST1	HP:0000272	Malar flattening
7291	TWIST1	HP:0000268	Dolichocephaly
7291	TWIST1	HP:0000269	Prominent occiput
7291	TWIST1	HP:0005037	Proximal radio-ulnar synostosis
7291	TWIST1	HP:0000248	Brachycephaly
7291	TWIST1	HP:0000220	Velopharyngeal insufficiency
7291	TWIST1	HP:0000218	High palate
7291	TWIST1	HP:0001561	Polyhydramnios
7291	TWIST1	HP:0012368	Flat face
7291	TWIST1	HP:0000378	Cupped ear
7291	TWIST1	HP:0000396	Overfolded helix
7291	TWIST1	HP:0000365	Hearing impairment
7291	TWIST1	HP:0000369	Low-set ears
7291	TWIST1	HP:0000337	Broad forehead
7291	TWIST1	HP:0000349	Widow's peak
7291	TWIST1	HP:0000348	High forehead
7291	TWIST1	HP:0000347	Micrognathia
7291	TWIST1	HP:0001650	Aortic valve stenosis
7291	TWIST1	HP:0000316	Hypertelorism
7291	TWIST1	HP:0001643	Patent ductus arteriosus
7291	TWIST1	HP:0002974	Radioulnar synostosis
7291	TWIST1	HP:0000327	Hypoplasia of the maxilla
7291	TWIST1	HP:0000322	Short philtrum
7291	TWIST1	HP:0000324	Facial asymmetry
7291	TWIST1	HP:0001655	Patent foramen ovale
7291	TWIST1	HP:0001627	Abnormal heart morphology
7291	TWIST1	HP:0000407	Sensorineural hearing impairment
7291	TWIST1	HP:0000405	Conductive hearing impairment
7291	TWIST1	HP:0005280	Depressed nasal bridge
7291	TWIST1	HP:0000486	Strabismus
7291	TWIST1	HP:0000494	Downslanted palpebral fissures
7291	TWIST1	HP:0001792	Small nail
7291	TWIST1	HP:0000460	Narrow nose
7291	TWIST1	HP:0000455	Broad nasal tip
7291	TWIST1	HP:0000475	Broad neck
7291	TWIST1	HP:0001770	Toe syndactyly
7291	TWIST1	HP:0000453	Choanal atresia
7291	TWIST1	HP:0000444	Convex nasal ridge
7291	TWIST1	HP:0001776	Bilateral talipes equinovarus
7291	TWIST1	HP:0001746	Asplenia
7291	TWIST1	HP:0000431	Wide nasal bridge
7291	TWIST1	HP:0000430	Underdeveloped nasal alae
7291	TWIST1	HP:0000426	Prominent nasal bridge
7291	TWIST1	HP:0005487	Prominent metopic ridge
7291	TWIST1	HP:0005469	Flat occiput
7291	TWIST1	HP:0000520	Proptosis
7291	TWIST1	HP:0001822	Hallux valgus
7291	TWIST1	HP:0000508	Ptosis
7291	TWIST1	HP:0031664	Systolic heart murmur
7291	TWIST1	HP:0000586	Shallow orbits
7291	TWIST1	HP:0011220	Prominent forehead
7291	TWIST1	HP:0000557	Buphthalmos
7292	TNFSF4	HP:0002494	Abnormal rapid eye movement sleep
7292	TNFSF4	HP:0001279	Syncope
7292	TNFSF4	HP:0001262	Excessive daytime somnolence
7292	TNFSF4	HP:0002524	Cataplexy
7292	TNFSF4	HP:0001350	Slurred speech
7292	TNFSF4	HP:0010534	Transient global amnesia
7292	TNFSF4	HP:0002360	Sleep disturbance
7292	TNFSF4	HP:0000738	Hallucinations
7292	TNFSF4	HP:0001513	Obesity
7292	TNFSF4	HP:0000478	Abnormality of the eye
7292	TNFSF4	HP:0000504	Abnormality of vision
7293	TNFRSF4	HP:0000007	Autosomal recessive inheritance
7293	TNFRSF4	HP:0002721	Immunodeficiency
7293	TNFRSF4	HP:0100726	Kaposi's sarcoma
7293	TNFRSF4	HP:0004844	Coombs-positive hemolytic anemia
7293	TNFRSF4	HP:0003621	Juvenile onset
7293	TNFRSF4	HP:0001744	Splenomegaly
7293	TNFRSF4	HP:0001876	Pancytopenia
7297	TYK2	HP:0000007	Autosomal recessive inheritance
7297	TYK2	HP:0002721	Immunodeficiency
7297	TYK2	HP:0002205	Recurrent respiratory infections
7297	TYK2	HP:0004429	Recurrent viral infections
7297	TYK2	HP:0003212	Increased circulating IgE level
7297	TYK2	HP:0002841	Recurrent fungal infections
7297	TYK2	HP:0011274	Recurrent mycobacterial infections
7298	TYMS	HP:0009926	Epiphora
7298	TYMS	HP:0010885	Avascular necrosis
7298	TYMS	HP:0001263	Global developmental delay
7298	TYMS	HP:0001231	Abnormal fingernail morphology
7298	TYMS	HP:0002575	Tracheoesophageal fistula
7298	TYMS	HP:0008734	Decreased testicular size
7298	TYMS	HP:0010984	Digenic inheritance
7298	TYMS	HP:0008661	Urethral stenosis
7298	TYMS	HP:0002514	Cerebral calcification
7298	TYMS	HP:0001399	Hepatic failure
7298	TYMS	HP:0001394	Cirrhosis
7298	TYMS	HP:0000035	Abnormal testis morphology
7298	TYMS	HP:0002664	Neoplasm
7298	TYMS	HP:0002671	Basal cell carcinoma
7298	TYMS	HP:0000008	Abnormal morphology of female internal genitalia
7298	TYMS	HP:0002665	Lymphoma
7298	TYMS	HP:0002650	Scoliosis
7298	TYMS	HP:0000164	Abnormality of the dentition
7298	TYMS	HP:0001488	Bilateral ptosis
7298	TYMS	HP:0002757	Recurrent fractures
7298	TYMS	HP:0002745	Oral leukoplakia
7298	TYMS	HP:0002719	Recurrent infections
7298	TYMS	HP:0002720	Decreased circulating IgA level
7298	TYMS	HP:0002024	Malabsorption
7298	TYMS	HP:0002020	Gastroesophageal reflux
7298	TYMS	HP:0002015	Dysphagia
7298	TYMS	HP:0010450	Esophageal stenosis
7298	TYMS	HP:0100585	Telangiectasia of the skin
7298	TYMS	HP:0003593	Infantile onset
7298	TYMS	HP:0003577	Congenital onset
7298	TYMS	HP:0002240	Hepatomegaly
7298	TYMS	HP:0002216	Premature graying of hair
7298	TYMS	HP:0002205	Recurrent respiratory infections
7298	TYMS	HP:0008404	Nail dystrophy
7298	TYMS	HP:0010624	Aplastic/hypoplastic toenail
7298	TYMS	HP:0001053	Hypopigmented skin patches
7298	TYMS	HP:0001034	Hypermelanotic macule
7298	TYMS	HP:0001018	Abnormal palmar dermatoglyphics
7298	TYMS	HP:0001000	Abnormality of skin pigmentation
7298	TYMS	HP:0200037	Skin vesicle
7298	TYMS	HP:0100670	Coarse metaphyseal trabecularization
7298	TYMS	HP:0100627	Displacement of the urethral meatus
7298	TYMS	HP:0200042	Skin ulcer
7298	TYMS	HP:0003621	Juvenile onset
7298	TYMS	HP:0005528	Bone marrow hypocellularity
7298	TYMS	HP:0001928	Abnormality of coagulation
7298	TYMS	HP:0000600	Abnormality of the pharynx
7298	TYMS	HP:0001903	Anemia
7298	TYMS	HP:0011364	White hair
7298	TYMS	HP:0000679	Taurodontia
7298	TYMS	HP:0000653	Sparse eyelashes
7298	TYMS	HP:0000670	Carious teeth
7298	TYMS	HP:0000668	Hypodontia
7298	TYMS	HP:0004322	Short stature
7298	TYMS	HP:0004315	Decreased circulating IgG level
7298	TYMS	HP:0012732	Anorectal anomaly
7298	TYMS	HP:0012733	Macule
7298	TYMS	HP:0000704	Periodontitis
7298	TYMS	HP:0000819	Diabetes mellitus
7298	TYMS	HP:0000975	Hyperhidrosis
7298	TYMS	HP:0000982	Palmoplantar keratoderma
7298	TYMS	HP:0000939	Osteoporosis
7298	TYMS	HP:0008070	Sparse hair
7298	TYMS	HP:0008065	Aplasia/Hypoplasia of the skin
7298	TYMS	HP:0008066	Abnormal blistering of the skin
7298	TYMS	HP:0001596	Alopecia
7298	TYMS	HP:0031413	Short telomere length
7298	TYMS	HP:0000252	Microcephaly
7298	TYMS	HP:0002894	Neoplasm of the pancreas
7298	TYMS	HP:0002861	Melanoma
7298	TYMS	HP:0001508	Failure to thrive
7298	TYMS	HP:0002850	Decreased circulating total IgM
7298	TYMS	HP:0001511	Intrauterine growth retardation
7298	TYMS	HP:0000365	Hearing impairment
7298	TYMS	HP:0000327	Hypoplasia of the maxilla
7298	TYMS	HP:0000499	Abnormal eyelash morphology
7298	TYMS	HP:0000498	Blepharitis
7298	TYMS	HP:0005374	Cellular immunodeficiency
7298	TYMS	HP:0001744	Splenomegaly
7298	TYMS	HP:0006739	Squamous cell carcinoma of the skin
7298	TYMS	HP:0000518	Cataract
7298	TYMS	HP:0000534	Abnormal eyebrow morphology
7298	TYMS	HP:0001874	Abnormality of neutrophils
7298	TYMS	HP:0001873	Thrombocytopenia
7299	TYR	HP:0001107	Ocular albinism
7299	TYR	HP:0001100	Heterochromia iridis
7299	TYR	HP:0000077	Abnormality of the kidney
7299	TYR	HP:0002671	Basal cell carcinoma
7299	TYR	HP:0000007	Autosomal recessive inheritance
7299	TYR	HP:0001480	Freckling
7299	TYR	HP:0007663	Reduced visual acuity
7299	TYR	HP:0003577	Congenital onset
7299	TYR	HP:0002251	Aganglionic megacolon
7299	TYR	HP:0002216	Premature graying of hair
7299	TYR	HP:0002211	White forelock
7299	TYR	HP:0200098	Absent skin pigmentation
7299	TYR	HP:0001053	Hypopigmented skin patches
7299	TYR	HP:0001010	Hypopigmentation of the skin
7299	TYR	HP:0001022	Albinism
7299	TYR	HP:0001072	Thickened skin
7299	TYR	HP:0005599	Hypopigmentation of hair
7299	TYR	HP:0000639	Nystagmus
7299	TYR	HP:0000635	Blue irides
7299	TYR	HP:0000649	Abnormality of visual evoked potentials
7299	TYR	HP:0000613	Photophobia
7299	TYR	HP:0011364	White hair
7299	TYR	HP:0004414	Abnormality of the pulmonary artery
7299	TYR	HP:0000995	Melanocytic nevus
7299	TYR	HP:0000962	Hyperkeratosis
7299	TYR	HP:0007703	Abnormality of retinal pigmentation
7299	TYR	HP:0007750	Hypoplasia of the fovea
7299	TYR	HP:0007730	Iris hypopigmentation
7299	TYR	HP:0002861	Melanoma
7299	TYR	HP:0007894	Hypopigmentation of the fundus
7299	TYR	HP:0000365	Hearing impairment
7299	TYR	HP:0000407	Sensorineural hearing impairment
7299	TYR	HP:0000483	Astigmatism
7299	TYR	HP:0000486	Strabismus
7299	TYR	HP:0006739	Squamous cell carcinoma of the skin
7299	TYR	HP:0000506	Telecanthus
7299	TYR	HP:0000508	Ptosis
7299	TYR	HP:0000505	Visual impairment
7299	TYR	HP:0000577	Exotropia
7299	TYR	HP:0000587	Abnormal optic nerve morphology
7299	TYR	HP:0000539	Abnormality of refraction
7299	TYR	HP:0000545	Myopia
7305	TYROBP	HP:0001155	Abnormality of the hand
7305	TYROBP	HP:0002488	Acute leukemia
7305	TYROBP	HP:0002476	Primitive reflex
7305	TYROBP	HP:0001288	Gait disturbance
7305	TYROBP	HP:0001250	Seizure
7305	TYROBP	HP:0001257	Spasticity
7305	TYROBP	HP:0002514	Cerebral calcification
7305	TYROBP	HP:0012062	Bone cyst
7305	TYROBP	HP:0001376	Limitation of joint mobility
7305	TYROBP	HP:0000020	Urinary incontinence
7305	TYROBP	HP:0000007	Autosomal recessive inheritance
7305	TYROBP	HP:0001336	Myoclonus
7305	TYROBP	HP:0002652	Skeletal dysplasia
7305	TYROBP	HP:0002653	Bone pain
7305	TYROBP	HP:0002756	Pathologic fracture
7305	TYROBP	HP:0002079	Hypoplasia of the corpus callosum
7305	TYROBP	HP:0002072	Chorea
7305	TYROBP	HP:0002059	Cerebral atrophy
7305	TYROBP	HP:0005930	Abnormal epiphysis morphology
7305	TYROBP	HP:0003487	Babinski sign
7305	TYROBP	HP:0002120	Cerebral cortical atrophy
7305	TYROBP	HP:0002119	Ventriculomegaly
7305	TYROBP	HP:0003447	Axonal loss
7305	TYROBP	HP:0002135	Basal ganglia calcification
7305	TYROBP	HP:0002127	Abnormal upper motor neuron morphology
7305	TYROBP	HP:0002186	Apraxia
7305	TYROBP	HP:0002167	Abnormality of speech or vocalization
7305	TYROBP	HP:0002171	Gliosis
7305	TYROBP	HP:0010524	Agnosia
7305	TYROBP	HP:0002376	Developmental regression
7305	TYROBP	HP:0002340	Caudate atrophy
7305	TYROBP	HP:0002353	EEG abnormality
7305	TYROBP	HP:0002354	Memory impairment
7305	TYROBP	HP:0002352	Leukoencephalopathy
7305	TYROBP	HP:0031844	Euphoria
7305	TYROBP	HP:0000657	Oculomotor apraxia
7305	TYROBP	HP:0006956	Lateral ventricle dilatation
7305	TYROBP	HP:0004349	Reduced bone mineral density
7305	TYROBP	HP:0000757	Lack of insight
7305	TYROBP	HP:0000751	Personality changes
7305	TYROBP	HP:0100022	Abnormality of movement
7305	TYROBP	HP:0000737	Irritability
7305	TYROBP	HP:0000734	Disinhibition
7305	TYROBP	HP:0012719	Functional abnormality of the gastrointestinal tract
7305	TYROBP	HP:0000719	Inappropriate behavior
7305	TYROBP	HP:0000718	Aggressive behavior
7305	TYROBP	HP:0000727	Frontal lobe dementia
7305	TYROBP	HP:0000726	Dementia
7305	TYROBP	HP:0000708	Atypical behavior
7305	TYROBP	HP:0011462	Young adult onset
7305	TYROBP	HP:0009124	Abnormal adipose tissue morphology
7305	TYROBP	HP:0002829	Arthralgia
7305	TYROBP	HP:0000238	Hydrocephalus
7305	TYROBP	HP:0011096	Peripheral demyelination
7305	TYROBP	HP:0001760	Abnormal foot morphology
7306	TYRP1	HP:0100814	Blue nevus
7306	TYRP1	HP:0007443	Partial albinism
7306	TYRP1	HP:0000007	Autosomal recessive inheritance
7306	TYRP1	HP:0001480	Freckling
7306	TYRP1	HP:0002227	White eyelashes
7306	TYRP1	HP:0002226	White eyebrow
7306	TYRP1	HP:0002297	Red hair
7306	TYRP1	HP:0200098	Absent skin pigmentation
7306	TYRP1	HP:0001010	Hypopigmentation of the skin
7306	TYRP1	HP:0001022	Albinism
7306	TYRP1	HP:0000639	Nystagmus
7306	TYRP1	HP:0000635	Blue irides
7306	TYRP1	HP:0011358	Generalized hypopigmentation of hair
7306	TYRP1	HP:0025551	Optic nerve misrouting
7306	TYRP1	HP:0007730	Iris hypopigmentation
7306	TYRP1	HP:0000486	Strabismus
7314	UBB	HP:0010863	Receptive language delay
7314	UBB	HP:0000185	Cleft soft palate
7314	UBB	HP:0000193	Bifid uvula
7314	UBB	HP:0410030	Cleft lip
7314	UBB	HP:0002033	Poor suck
7314	UBB	HP:0011819	Submucous cleft soft palate
7314	UBB	HP:0200136	Oral-pharyngeal dysphagia
7314	UBB	HP:0008376	Nasal, dysarthic speech
7314	UBB	HP:0011951	Aspiration pneumonia
7314	UBB	HP:0009088	Speech articulation difficulties
7314	UBB	HP:0011469	Nasal regurgitation
7314	UBB	HP:0000220	Velopharyngeal insufficiency
7314	UBB	HP:0001611	Hypernasal speech
7314	UBB	HP:0000327	Hypoplasia of the maxilla
7314	UBB	HP:0000403	Recurrent otitis media
7314	UBB	HP:0000405	Conductive hearing impairment
7314	UBB	HP:0011219	Short face
7317	UBA1	HP:0002460	Distal muscle weakness
7317	UBA1	HP:0007269	Spinal muscular atrophy
7317	UBA1	HP:0002425	Anarthria
7317	UBA1	HP:0003701	Proximal muscle weakness
7317	UBA1	HP:0001290	Generalized hypotonia
7317	UBA1	HP:0001284	Areflexia
7317	UBA1	HP:0001252	Hypotonia
7317	UBA1	HP:0001220	Interphalangeal joint contracture of finger
7317	UBA1	HP:0002518	Abnormal periventricular white matter morphology
7317	UBA1	HP:0001371	Flexion contracture
7317	UBA1	HP:0001369	Arthritis
7317	UBA1	HP:0000054	Micropenis
7317	UBA1	HP:0000047	Hypospadias
7317	UBA1	HP:0000023	Inguinal hernia
7317	UBA1	HP:0000028	Cryptorchidism
7317	UBA1	HP:0012089	Arteritis
7317	UBA1	HP:0001308	Tongue fasciculations
7317	UBA1	HP:0002650	Scoliosis
7317	UBA1	HP:0002625	Deep venous thrombosis
7317	UBA1	HP:0008947	Infantile muscular hypotonia
7317	UBA1	HP:0001444	Autosomal dominant somatic cell mutation
7317	UBA1	HP:0002751	Kyphoscoliosis
7317	UBA1	HP:0031234	Neutrophilic infiltration of the skin
7317	UBA1	HP:0001419	X-linked recessive inheritance
7317	UBA1	HP:0002747	Respiratory insufficiency due to muscle weakness
7317	UBA1	HP:0002033	Poor suck
7317	UBA1	HP:0002009	Potter facies
7317	UBA1	HP:0003324	Generalized muscle weakness
7317	UBA1	HP:0100543	Cognitive impairment
7317	UBA1	HP:0002098	Respiratory distress
7317	UBA1	HP:0002093	Respiratory insufficiency
7317	UBA1	HP:0002058	Myopathic facies
7317	UBA1	HP:0008180	Mildly elevated creatine kinase
7317	UBA1	HP:0002113	Pulmonary infiltrates
7317	UBA1	HP:0003445	EMG: neuropathic changes
7317	UBA1	HP:0003596	Middle age onset
7317	UBA1	HP:0003565	Elevated erythrocyte sedimentation rate
7317	UBA1	HP:0033380	Nasal chondritis
7317	UBA1	HP:0033383	Decreased compound muscle action potential amplitude
7317	UBA1	HP:0010628	Facial palsy
7317	UBA1	HP:0002398	Degeneration of anterior horn cells
7317	UBA1	HP:0200035	Skin plaque
7317	UBA1	HP:0200047	Chondritis of pinna
7317	UBA1	HP:0020110	Bone fracture
7317	UBA1	HP:0003623	Neonatal onset
7317	UBA1	HP:0007178	Motor polyneuropathy
7317	UBA1	HP:0006829	Severe muscular hypotonia
7317	UBA1	HP:0006802	Abnormal anterior horn cell morphology
7317	UBA1	HP:0009071	Inflammatory myopathy
7317	UBA1	HP:0001972	Macrocytic anemia
7317	UBA1	HP:0001954	Recurrent fever
7317	UBA1	HP:0001939	Abnormality of metabolism/homeostasis
7317	UBA1	HP:0001907	Thromboembolism
7317	UBA1	HP:0004303	Abnormal muscle fiber morphology
7317	UBA1	HP:0000773	Short ribs
7317	UBA1	HP:0003198	Myopathy
7317	UBA1	HP:0000887	Cupped ribs
7317	UBA1	HP:0003236	Elevated circulating creatine kinase concentration
7317	UBA1	HP:0003202	Skeletal muscle atrophy
7317	UBA1	HP:0003273	Hip contracture
7317	UBA1	HP:0006466	Ankle flexion contracture
7317	UBA1	HP:0030057	Autoimmune antibody positivity
7317	UBA1	HP:0002829	Arthralgia
7317	UBA1	HP:0002828	Multiple joint contractures
7317	UBA1	HP:0002804	Arthrogryposis multiplex congenita
7317	UBA1	HP:0006380	Knee flexion contracture
7317	UBA1	HP:0000218	High palate
7317	UBA1	HP:0001558	Decreased fetal movement
7317	UBA1	HP:0002863	Myelodysplasia
7317	UBA1	HP:0012378	Fatigue
7317	UBA1	HP:0001612	Weak cry
7317	UBA1	HP:0000347	Micrognathia
7317	UBA1	HP:0002987	Elbow flexion contracture
7317	UBA1	HP:0030166	Night sweats
7317	UBA1	HP:0030319	Weakness of facial musculature
7317	UBA1	HP:0032988	Persistent head lag
7317	UBA1	HP:0000407	Sensorineural hearing impairment
7317	UBA1	HP:0011123	Inflammatory abnormality of the skin
7317	UBA1	HP:0000508	Ptosis
7317	UBA1	HP:0031688	Erythroid dysplasia
7317	UBA1	HP:0031689	Megakaryocyte dysplasia
7317	UBA1	HP:0011227	Elevated circulating C-reactive protein concentration
7317	UBA1	HP:0001873	Thrombocytopenia
7319	UBE2A	HP:0002465	Poor speech
7319	UBE2A	HP:0010864	Intellectual disability, severe
7319	UBE2A	HP:0100838	Recurrent cutaneous abscess formation
7319	UBE2A	HP:0001250	Seizure
7319	UBE2A	HP:0001249	Intellectual disability
7319	UBE2A	HP:0002500	Abnormal cerebral white matter morphology
7319	UBE2A	HP:0000085	Horseshoe kidney
7319	UBE2A	HP:0000076	Vesicoureteral reflux
7319	UBE2A	HP:0000054	Micropenis
7319	UBE2A	HP:0000047	Hypospadias
7319	UBE2A	HP:0000028	Cryptorchidism
7319	UBE2A	HP:0007509	Patchy hypo- and hyperpigmentation
7319	UBE2A	HP:0001344	Absent speech
7319	UBE2A	HP:0000154	Wide mouth
7319	UBE2A	HP:0410018	Recurrent ear infections
7319	UBE2A	HP:0012110	Hypoplasia of the pons
7319	UBE2A	HP:0001419	X-linked recessive inheritance
7319	UBE2A	HP:0002714	Downturned corners of mouth
7319	UBE2A	HP:0004691	2-3 toe syndactyly
7319	UBE2A	HP:0002002	Deep philtrum
7319	UBE2A	HP:0011800	Midface retrusion
7319	UBE2A	HP:0002092	Pulmonary arterial hypertension
7319	UBE2A	HP:0011913	Lumbar hypertrichosis
7319	UBE2A	HP:0002194	Delayed gross motor development
7319	UBE2A	HP:0002162	Low posterior hairline
7319	UBE2A	HP:0010529	Echolalia
7319	UBE2A	HP:0003593	Infantile onset
7319	UBE2A	HP:0100716	Self-injurious behavior
7319	UBE2A	HP:0002230	Generalized hirsutism
7319	UBE2A	HP:0002205	Recurrent respiratory infections
7319	UBE2A	HP:0010721	Abnormal hair whorl
7319	UBE2A	HP:0008404	Nail dystrophy
7319	UBE2A	HP:0100760	Clubbing of toes
7319	UBE2A	HP:0002342	Intellectual disability, moderate
7319	UBE2A	HP:0001007	Hirsutism
7319	UBE2A	HP:0007103	Hypointensity of cerebral white matter on MRI
7319	UBE2A	HP:0009765	Low hanging columella
7319	UBE2A	HP:0004969	Peripheral pulmonary artery stenosis
7319	UBE2A	HP:0005590	Spotty hypopigmentation
7319	UBE2A	HP:0010055	Broad hallux
7319	UBE2A	HP:0000664	Synophrys
7319	UBE2A	HP:0004324	Increased body weight
7319	UBE2A	HP:0000750	Delayed speech and language development
7319	UBE2A	HP:0000718	Aggressive behavior
7319	UBE2A	HP:0000722	Compulsive behaviors
7319	UBE2A	HP:0004467	Preauricular pit
7319	UBE2A	HP:0003265	Neonatal hyperbilirubinemia
7319	UBE2A	HP:0000958	Dry skin
7319	UBE2A	HP:0000283	Broad face
7319	UBE2A	HP:0000256	Macrocephaly
7319	UBE2A	HP:0000272	Malar flattening
7319	UBE2A	HP:0001562	Oligohydramnios
7319	UBE2A	HP:0000233	Thin vermilion border
7319	UBE2A	HP:0007874	Almond-shaped palpebral fissure
7319	UBE2A	HP:0000365	Hearing impairment
7319	UBE2A	HP:0000336	Prominent supraorbital ridges
7319	UBE2A	HP:0000348	High forehead
7319	UBE2A	HP:0000316	Hypertelorism
7319	UBE2A	HP:0001643	Patent ductus arteriosus
7319	UBE2A	HP:0001655	Patent foramen ovale
7319	UBE2A	HP:0001629	Ventricular septal defect
7319	UBE2A	HP:0001636	Tetralogy of Fallot
7319	UBE2A	HP:0006610	Wide intermamillary distance
7319	UBE2A	HP:0030311	Lower extremity joint dislocation
7319	UBE2A	HP:0005345	Abnormal vena cava morphology
7319	UBE2A	HP:0000400	Macrotia
7319	UBE2A	HP:0001719	Double outlet right ventricle
7319	UBE2A	HP:0001718	Mitral stenosis
7319	UBE2A	HP:0005280	Depressed nasal bridge
7319	UBE2A	HP:0000486	Strabismus
7319	UBE2A	HP:0000490	Deeply set eye
7319	UBE2A	HP:0012450	Chronic constipation
7319	UBE2A	HP:0000475	Broad neck
7319	UBE2A	HP:0000470	Short neck
7319	UBE2A	HP:0001773	Short foot
7319	UBE2A	HP:0001763	Pes planus
7319	UBE2A	HP:0001776	Bilateral talipes equinovarus
7319	UBE2A	HP:0000430	Underdeveloped nasal alae
7319	UBE2A	HP:0001761	Pes cavus
7319	UBE2A	HP:0000519	Developmental cataract
7319	UBE2A	HP:0001845	Overlapping toe
7319	UBE2A	HP:0000582	Upslanted palpebral fissure
7319	UBE2A	HP:0001875	Neutropenia
7337	UBE3A	HP:0002465	Poor speech
7337	UBE3A	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
7337	UBE3A	HP:0007270	Atypical absence seizure
7337	UBE3A	HP:0007240	Progressive gait ataxia
7337	UBE3A	HP:0010864	Intellectual disability, severe
7337	UBE3A	HP:0003745	Sporadic
7337	UBE3A	HP:0001290	Generalized hypotonia
7337	UBE3A	HP:0001270	Motor delay
7337	UBE3A	HP:0001256	Intellectual disability, mild
7337	UBE3A	HP:0001250	Seizure
7337	UBE3A	HP:0001252	Hypotonia
7337	UBE3A	HP:0001251	Ataxia
7337	UBE3A	HP:0001249	Intellectual disability
7337	UBE3A	HP:0002591	Polyphagia
7337	UBE3A	HP:0001263	Global developmental delay
7337	UBE3A	HP:0006101	Finger syndactyly
7337	UBE3A	HP:0410263	Brain imaging abnormality
7337	UBE3A	HP:0001347	Hyperreflexia
7337	UBE3A	HP:0008872	Feeding difficulties in infancy
7337	UBE3A	HP:0001344	Absent speech
7337	UBE3A	HP:0001337	Tremor
7337	UBE3A	HP:0000006	Autosomal dominant inheritance
7337	UBE3A	HP:0001336	Myoclonus
7337	UBE3A	HP:0002650	Scoliosis
7337	UBE3A	HP:0000158	Macroglossia
7337	UBE3A	HP:0000154	Wide mouth
7337	UBE3A	HP:0008947	Infantile muscular hypotonia
7337	UBE3A	HP:0002019	Constipation
7337	UBE3A	HP:0002033	Poor suck
7337	UBE3A	HP:0002015	Dysphagia
7337	UBE3A	HP:0002069	Bilateral tonic-clonic seizure
7337	UBE3A	HP:0002079	Hypoplasia of the corpus callosum
7337	UBE3A	HP:0002046	Heat intolerance
7337	UBE3A	HP:0002141	Gait imbalance
7337	UBE3A	HP:0002120	Cerebral cortical atrophy
7337	UBE3A	HP:0002136	Broad-based gait
7337	UBE3A	HP:0002186	Apraxia
7337	UBE3A	HP:0002167	Abnormality of speech or vocalization
7337	UBE3A	HP:0010505	Limitation of movement at ankles
7337	UBE3A	HP:0100703	Tongue thrusting
7337	UBE3A	HP:0100738	Abnormal eating behavior
7337	UBE3A	HP:0002286	Fair hair
7337	UBE3A	HP:0200085	Limb tremor
7337	UBE3A	HP:0007018	Attention deficit hyperactivity disorder
7337	UBE3A	HP:0011968	Feeding difficulties
7337	UBE3A	HP:0002395	Lower limb hyperreflexia
7337	UBE3A	HP:0001010	Hypopigmentation of the skin
7337	UBE3A	HP:0002353	EEG abnormality
7337	UBE3A	HP:0010808	Protruding tongue
7337	UBE3A	HP:0002312	Clumsiness
7337	UBE3A	HP:0002307	Drooling
7337	UBE3A	HP:0004209	Clinodactyly of the 5th finger
7337	UBE3A	HP:0005599	Hypopigmentation of hair
7337	UBE3A	HP:0006887	Intellectual disability, progressive
7337	UBE3A	HP:0000639	Nystagmus
7337	UBE3A	HP:0000635	Blue irides
7337	UBE3A	HP:0000687	Widely spaced teeth
7337	UBE3A	HP:0001999	Abnormal facial shape
7337	UBE3A	HP:0004322	Short stature
7337	UBE3A	HP:0006979	Sleep-wake cycle disturbance
7337	UBE3A	HP:0004302	Functional motor deficit
7337	UBE3A	HP:0030680	Abnormality of cardiovascular system morphology
7337	UBE3A	HP:0005692	Joint hyperflexibility
7337	UBE3A	HP:0031936	Delayed ability to walk
7337	UBE3A	HP:0000752	Hyperactivity
7337	UBE3A	HP:0100022	Abnormality of movement
7337	UBE3A	HP:0100023	Recurrent hand flapping
7337	UBE3A	HP:0000736	Short attention span
7337	UBE3A	HP:0000750	Delayed speech and language development
7337	UBE3A	HP:0000749	Paroxysmal bursts of laughter
7337	UBE3A	HP:0000748	Inappropriate laughter
7337	UBE3A	HP:0000717	Autism
7337	UBE3A	HP:0000710	Hyperorality
7337	UBE3A	HP:0000729	Autistic behavior
7337	UBE3A	HP:0000722	Compulsive behaviors
7337	UBE3A	HP:0000708	Atypical behavior
7337	UBE3A	HP:0012758	Neurodevelopmental delay
7337	UBE3A	HP:0004485	Cessation of head growth
7337	UBE3A	HP:0040082	Happy demeanor
7337	UBE3A	HP:0040196	Mild microcephaly
7337	UBE3A	HP:0000286	Epicanthus
7337	UBE3A	HP:0000298	Mask-like facies
7337	UBE3A	HP:0000256	Macrocephaly
7337	UBE3A	HP:0007730	Iris hypopigmentation
7337	UBE3A	HP:0000248	Brachycephaly
7337	UBE3A	HP:0001513	Obesity
7337	UBE3A	HP:0000327	Hypoplasia of the maxilla
7337	UBE3A	HP:0000303	Mandibular prognathia
7337	UBE3A	HP:0011185	EEG with focal epileptiform discharges
7337	UBE3A	HP:0000486	Strabismus
7337	UBE3A	HP:0000494	Downslanted palpebral fissures
7337	UBE3A	HP:0000490	Deeply set eye
7337	UBE3A	HP:0012448	Delayed myelination
7337	UBE3A	HP:0005484	Secondary microcephaly
7337	UBE3A	HP:0005469	Flat occiput
7337	UBE3A	HP:0000577	Exotropia
7337	UBE3A	HP:0011203	EEG with abnormally slow frequencies
7337	UBE3A	HP:0000545	Myopia
7341	SUMO1	HP:0003745	Sporadic
7341	SUMO1	HP:0006342	Peg-shaped maxillary lateral incisors
7341	SUMO1	HP:0006344	Abnormality of primary molar morphology
7341	SUMO1	HP:0006336	Short dental root
7341	SUMO1	HP:0006297	Enamel hypoplasia
7341	SUMO1	HP:0006289	Agenesis of central incisor
7341	SUMO1	HP:0003577	Congenital onset
7341	SUMO1	HP:0000696	Delayed eruption of permanent teeth
7341	SUMO1	HP:0000684	Delayed eruption of teeth
7341	SUMO1	HP:0000679	Taurodontia
7341	SUMO1	HP:0000677	Oligodontia
7341	SUMO1	HP:0000691	Microdontia
7341	SUMO1	HP:0000690	Agenesis of maxillary lateral incisor
7341	SUMO1	HP:0000689	Dental malocclusion
7341	SUMO1	HP:0000685	Hypoplasia of teeth
7341	SUMO1	HP:0000687	Widely spaced teeth
7341	SUMO1	HP:0100333	Unilateral cleft lip
7341	SUMO1	HP:0100334	Unilateral cleft palate
7341	SUMO1	HP:0000202	Orofacial cleft
7341	SUMO1	HP:0011078	Abnormality of canine
7341	SUMO1	HP:0011053	Agenesis of mandibular premolar
7341	SUMO1	HP:0011051	Agenesis of premolar
7341	SUMO1	HP:0011056	Agenesis of first permanent molar tooth
7341	SUMO1	HP:0005216	Impaired mastication
7341	SUMO1	HP:0006482	Abnormality of dental morphology
7341	SUMO1	HP:0012472	Eclabion
7341	SUMO1	HP:0011219	Short face
7343	UBTF	HP:0007328	Impaired pain sensation
7343	UBTF	HP:0007256	Abnormal pyramidal sign
7343	UBTF	HP:0010864	Intellectual disability, severe
7343	UBTF	HP:0001272	Cerebellar atrophy
7343	UBTF	HP:0001268	Mental deterioration
7343	UBTF	HP:0001250	Seizure
7343	UBTF	HP:0001251	Ataxia
7343	UBTF	HP:0001260	Dysarthria
7343	UBTF	HP:0001263	Global developmental delay
7343	UBTF	HP:0001257	Spasticity
7343	UBTF	HP:0002540	Inability to walk
7343	UBTF	HP:0002509	Limb hypertonia
7343	UBTF	HP:0001332	Dystonia
7343	UBTF	HP:0001344	Absent speech
7343	UBTF	HP:0000006	Autosomal dominant inheritance
7343	UBTF	HP:0001300	Parkinsonism
7343	UBTF	HP:0008947	Infantile muscular hypotonia
7343	UBTF	HP:0002015	Dysphagia
7343	UBTF	HP:0002066	Gait ataxia
7343	UBTF	HP:0002063	Rigidity
7343	UBTF	HP:0002079	Hypoplasia of the corpus callosum
7343	UBTF	HP:0002072	Chorea
7343	UBTF	HP:0002071	Abnormality of extrapyramidal motor function
7343	UBTF	HP:0002059	Cerebral atrophy
7343	UBTF	HP:0002120	Cerebral cortical atrophy
7343	UBTF	HP:0002119	Ventriculomegaly
7343	UBTF	HP:0003447	Axonal loss
7343	UBTF	HP:0002187	Intellectual disability, profound
7343	UBTF	HP:0002180	Neurodegeneration
7343	UBTF	HP:0003593	Infantile onset
7343	UBTF	HP:0100710	Impulsivity
7343	UBTF	HP:0011968	Feeding difficulties
7343	UBTF	HP:0002381	Aphasia
7343	UBTF	HP:0002376	Developmental regression
7343	UBTF	HP:0002353	EEG abnormality
7343	UBTF	HP:0004325	Decreased body weight
7343	UBTF	HP:0000752	Hyperactivity
7343	UBTF	HP:0000768	Pectus carinatum
7343	UBTF	HP:0000718	Aggressive behavior
7343	UBTF	HP:0000729	Autistic behavior
7343	UBTF	HP:0000708	Atypical behavior
7343	UBTF	HP:0011471	Gastrostomy tube feeding in infancy
7343	UBTF	HP:0011463	Childhood onset
7343	UBTF	HP:0030890	Hyperintensity of cerebral white matter on MRI
7343	UBTF	HP:0002808	Kyphosis
7343	UBTF	HP:0000252	Microcephaly
7343	UBTF	HP:0011096	Peripheral demyelination
7343	UBTF	HP:0005484	Secondary microcephaly
7345	UCHL1	HP:0002486	Myotonia
7345	UCHL1	HP:0002495	Impaired vibratory sensation
7345	UCHL1	HP:0002411	Myokymia
7345	UCHL1	HP:0025269	Panic attack
7345	UCHL1	HP:0001272	Cerebellar atrophy
7345	UCHL1	HP:0002599	Head titubation
7345	UCHL1	HP:0001251	Ataxia
7345	UCHL1	HP:0001249	Intellectual disability
7345	UCHL1	HP:0002578	Gastroparesis
7345	UCHL1	HP:0001258	Spastic paraplegia
7345	UCHL1	HP:0001257	Spasticity
7345	UCHL1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
7345	UCHL1	HP:0003829	Typified by incomplete penetrance
7345	UCHL1	HP:0002505	Loss of ambulation
7345	UCHL1	HP:0001371	Flexion contracture
7345	UCHL1	HP:0001347	Hyperreflexia
7345	UCHL1	HP:0001332	Dystonia
7345	UCHL1	HP:0000007	Autosomal recessive inheritance
7345	UCHL1	HP:0001337	Tremor
7345	UCHL1	HP:0000006	Autosomal dominant inheritance
7345	UCHL1	HP:0001310	Dysmetria
7345	UCHL1	HP:0007663	Reduced visual acuity
7345	UCHL1	HP:0002018	Nausea
7345	UCHL1	HP:0002019	Constipation
7345	UCHL1	HP:0040307	Male sexual dysfunction
7345	UCHL1	HP:0002014	Diarrhea
7345	UCHL1	HP:0002080	Intention tremor
7345	UCHL1	HP:0100543	Cognitive impairment
7345	UCHL1	HP:0002067	Bradykinesia
7345	UCHL1	HP:0003394	Muscle spasm
7345	UCHL1	HP:0002063	Rigidity
7345	UCHL1	HP:0002061	Lower limb spasticity
7345	UCHL1	HP:0002059	Cerebral atrophy
7345	UCHL1	HP:0002141	Gait imbalance
7345	UCHL1	HP:0003487	Babinski sign
7345	UCHL1	HP:0002180	Neurodegeneration
7345	UCHL1	HP:0002174	Postural tremor
7345	UCHL1	HP:0002172	Postural instability
7345	UCHL1	HP:0002273	Tetraparesis
7345	UCHL1	HP:0100710	Impulsivity
7345	UCHL1	HP:0100785	Insomnia
7345	UCHL1	HP:0002380	Fasciculations
7345	UCHL1	HP:0003676	Progressive
7345	UCHL1	HP:0100660	Dyskinesia
7345	UCHL1	HP:0010831	Impaired proprioception
7345	UCHL1	HP:0007141	Sensorimotor neuropathy
7345	UCHL1	HP:0003621	Juvenile onset
7345	UCHL1	HP:0000640	Gaze-evoked nystagmus
7345	UCHL1	HP:0000651	Diplopia
7345	UCHL1	HP:0000648	Optic atrophy
7345	UCHL1	HP:0034008	Opto-chiasmatic atrophy
7345	UCHL1	HP:0006938	Impaired vibration sensation at ankles
7345	UCHL1	HP:0031993	Hoffmann sign
7345	UCHL1	HP:0000768	Pectus carinatum
7345	UCHL1	HP:0000738	Hallucinations
7345	UCHL1	HP:0000739	Anxiety
7345	UCHL1	HP:0000736	Short attention span
7345	UCHL1	HP:0000735	Impaired social interactions
7345	UCHL1	HP:0000741	Apathy
7345	UCHL1	HP:0000716	Depression
7345	UCHL1	HP:0000713	Agitation
7345	UCHL1	HP:0000727	Frontal lobe dementia
7345	UCHL1	HP:0000726	Dementia
7345	UCHL1	HP:0011448	Ankle clonus
7345	UCHL1	HP:0004409	Hyposmia
7345	UCHL1	HP:0030014	Female sexual dysfunction
7345	UCHL1	HP:0012332	Abnormal autonomic nervous system physiology
7345	UCHL1	HP:0012452	Restless legs
7345	UCHL1	HP:0001763	Pes planus
7345	UCHL1	HP:0001761	Pes cavus
7345	UCHL1	HP:0000512	Abnormal electroretinogram
7345	UCHL1	HP:0000529	Progressive visual loss
7345	UCHL1	HP:0000597	Ophthalmoparesis
7345	UCHL1	HP:0000572	Visual loss
7345	UCHL1	HP:0000551	Color vision defect
7345	UCHL1	HP:0000545	Myopia
7351	UCP2	HP:0001279	Syncope
7351	UCP2	HP:0001254	Lethargy
7351	UCP2	HP:0002591	Polyphagia
7351	UCP2	HP:0031084	Excessive insulin response to glucagon test
7351	UCP2	HP:0012051	Reactive hypoglycemia
7351	UCP2	HP:0001325	Hypoglycemic coma
7351	UCP2	HP:0031224	Diffuse pancreatic islet hyperplasia
7351	UCP2	HP:0040299	Decreased circulating free fatty acid level
7351	UCP2	HP:0002133	Status epilepticus
7351	UCP2	HP:0002173	Hypoglycemic seizures
7351	UCP2	HP:0002240	Hepatomegaly
7351	UCP2	HP:0011968	Feeding difficulties
7351	UCP2	HP:0001069	Episodic hyperhidrosis
7351	UCP2	HP:0002329	Drowsiness
7351	UCP2	HP:0007185	Loss of consciousness
7351	UCP2	HP:0001962	Palpitations
7351	UCP2	HP:0001988	Recurrent hypoglycemia
7351	UCP2	HP:0001985	Hypoketotic hypoglycemia
7351	UCP2	HP:0000713	Agitation
7351	UCP2	HP:0012759	Neurodevelopmental abnormality
7351	UCP2	HP:0030796	Increased C-peptide level
7351	UCP2	HP:0000825	Hyperinsulinemic hypoglycemia
7351	UCP2	HP:0000980	Pallor
7351	UCP2	HP:0001520	Large for gestational age
7351	UCP2	HP:0001649	Tachycardia
7351	UCP2	HP:0001639	Hypertrophic cardiomyopathy
7352	UCP3	HP:0010982	Polygenic inheritance
7352	UCP3	HP:0000007	Autosomal recessive inheritance
7352	UCP3	HP:0000006	Autosomal dominant inheritance
7352	UCP3	HP:0031819	Increased waist to hip ratio
7352	UCP3	HP:0001513	Obesity
7352	UCP3	HP:0012340	Decreased resting energy expenditure
7353	UFD1	HP:0001166	Arachnodactyly
7353	UFD1	HP:0001161	Hand polydactyly
7353	UFD1	HP:0001136	Retinal arteriolar tortuosity
7353	UFD1	HP:0002435	Meningocele
7353	UFD1	HP:0007302	Bipolar affective disorder
7353	UFD1	HP:0007271	Occipital myelomeningocele
7353	UFD1	HP:0002414	Spina bifida
7353	UFD1	HP:0001281	Tetany
7353	UFD1	HP:0001256	Intellectual disability, mild
7353	UFD1	HP:0001250	Seizure
7353	UFD1	HP:0001252	Hypotonia
7353	UFD1	HP:0001249	Intellectual disability
7353	UFD1	HP:0001263	Global developmental delay
7353	UFD1	HP:0002566	Intestinal malrotation
7353	UFD1	HP:0000089	Renal hypoplasia
7353	UFD1	HP:0000076	Vesicoureteral reflux
7353	UFD1	HP:0001369	Arthritis
7353	UFD1	HP:0000047	Hypospadias
7353	UFD1	HP:0000023	Inguinal hernia
7353	UFD1	HP:0002691	Platybasia
7353	UFD1	HP:0000028	Cryptorchidism
7353	UFD1	HP:0008872	Feeding difficulties in infancy
7353	UFD1	HP:0001328	Specific learning disability
7353	UFD1	HP:0002650	Scoliosis
7353	UFD1	HP:0002619	Varicose veins
7353	UFD1	HP:0002607	Bowel incontinence
7353	UFD1	HP:0000164	Abnormality of the dentition
7353	UFD1	HP:0000160	Narrow mouth
7353	UFD1	HP:0000175	Cleft palate
7353	UFD1	HP:0000113	Polycystic kidney dysplasia
7353	UFD1	HP:0000130	Abnormality of the uterus
7353	UFD1	HP:0002721	Immunodeficiency
7353	UFD1	HP:0002023	Anal atresia
7353	UFD1	HP:0002020	Gastroesophageal reflux
7353	UFD1	HP:0002019	Constipation
7353	UFD1	HP:0003326	Myalgia
7353	UFD1	HP:0002099	Asthma
7353	UFD1	HP:0002139	Arrhinencephaly
7353	UFD1	HP:0002101	Abnormal lung lobation
7353	UFD1	HP:0002239	Gastrointestinal hemorrhage
7353	UFD1	HP:0002251	Aganglionic megacolon
7353	UFD1	HP:0100765	Abnormality of the tonsils
7353	UFD1	HP:0100735	Hypertensive crisis
7353	UFD1	HP:0100750	Atelectasis
7353	UFD1	HP:0100753	Schizophrenia
7353	UFD1	HP:0007018	Attention deficit hyperactivity disorder
7353	UFD1	HP:0001051	Seborrheic dermatitis
7353	UFD1	HP:0001053	Hypopigmented skin patches
7353	UFD1	HP:0002381	Aphasia
7353	UFD1	HP:0001061	Acne
7353	UFD1	HP:0001081	Cholelithiasis
7353	UFD1	HP:0005562	Multiple renal cysts
7353	UFD1	HP:0000648	Optic atrophy
7353	UFD1	HP:0000627	Posterior embryotoxon
7353	UFD1	HP:0000600	Abnormality of the pharynx
7353	UFD1	HP:0000682	Abnormal dental enamel morphology
7353	UFD1	HP:0011324	Multiple suture craniosynostosis
7353	UFD1	HP:0000670	Carious teeth
7353	UFD1	HP:0001999	Abnormal facial shape
7353	UFD1	HP:0004322	Short stature
7353	UFD1	HP:0030680	Abnormality of cardiovascular system morphology
7353	UFD1	HP:0005692	Joint hyperflexibility
7353	UFD1	HP:0012732	Anorectal anomaly
7353	UFD1	HP:0000765	Abnormal thorax morphology
7353	UFD1	HP:0000739	Anxiety
7353	UFD1	HP:0000716	Depression
7353	UFD1	HP:0000717	Autism
7353	UFD1	HP:0000708	Atypical behavior
7353	UFD1	HP:0011496	Corneal neovascularization
7353	UFD1	HP:0000778	Hypoplasia of the thymus
7353	UFD1	HP:0000929	Abnormal skull morphology
7353	UFD1	HP:0000836	Hyperthyroidism
7353	UFD1	HP:0000829	Hypoparathyroidism
7353	UFD1	HP:0000821	Hypothyroidism
7353	UFD1	HP:0011662	Tricuspid atresia
7353	UFD1	HP:0000979	Purpura
7353	UFD1	HP:0000286	Epicanthus
7353	UFD1	HP:0000262	Turricephaly
7353	UFD1	HP:0000276	Long face
7353	UFD1	HP:0000272	Malar flattening
7353	UFD1	HP:0000238	Hydrocephalus
7353	UFD1	HP:0000252	Microcephaly
7353	UFD1	HP:0001561	Polyhydramnios
7353	UFD1	HP:0001537	Umbilical hernia
7353	UFD1	HP:0001508	Failure to thrive
7353	UFD1	HP:0001511	Intrauterine growth retardation
7353	UFD1	HP:0001513	Obesity
7353	UFD1	HP:0006510	Chronic pulmonary obstruction
7353	UFD1	HP:0000385	Small earlobe
7353	UFD1	HP:0000396	Overfolded helix
7353	UFD1	HP:0000389	Chronic otitis media
7353	UFD1	HP:0001601	Laryngomalacia
7353	UFD1	HP:0001611	Hypernasal speech
7353	UFD1	HP:0002901	Hypocalcemia
7353	UFD1	HP:0000365	Hearing impairment
7353	UFD1	HP:0000369	Low-set ears
7353	UFD1	HP:0000343	Long philtrum
7353	UFD1	HP:0002999	Patellar dislocation
7353	UFD1	HP:0000347	Micrognathia
7353	UFD1	HP:0012303	Abnormal aortic arch morphology
7353	UFD1	HP:0000316	Hypertelorism
7353	UFD1	HP:0001646	Abnormal aortic valve morphology
7353	UFD1	HP:0001643	Patent ductus arteriosus
7353	UFD1	HP:0001660	Truncus arteriosus
7353	UFD1	HP:0000322	Short philtrum
7353	UFD1	HP:0002960	Autoimmunity
7353	UFD1	HP:0001629	Ventricular septal defect
7353	UFD1	HP:0001641	Abnormal pulmonary valve morphology
7353	UFD1	HP:0001636	Tetralogy of Fallot
7353	UFD1	HP:0001631	Atrial septal defect
7353	UFD1	HP:0000405	Conductive hearing impairment
7353	UFD1	HP:0000486	Strabismus
7353	UFD1	HP:0000494	Downslanted palpebral fissures
7353	UFD1	HP:0000492	Abnormal eyelid morphology
7353	UFD1	HP:0000470	Short neck
7353	UFD1	HP:0000453	Choanal atresia
7353	UFD1	HP:0000414	Bulbous nose
7353	UFD1	HP:0001744	Splenomegaly
7353	UFD1	HP:0001762	Talipes equinovarus
7353	UFD1	HP:0000431	Wide nasal bridge
7353	UFD1	HP:0000426	Prominent nasal bridge
7353	UFD1	HP:0005435	Impaired T cell function
7353	UFD1	HP:0000518	Cataract
7353	UFD1	HP:0001829	Foot polydactyly
7353	UFD1	HP:0000506	Telecanthus
7353	UFD1	HP:0000508	Ptosis
7353	UFD1	HP:0000501	Glaucoma
7353	UFD1	HP:0000582	Upslanted palpebral fissure
7353	UFD1	HP:0000568	Microphthalmia
7353	UFD1	HP:0001872	Abnormality of thrombocytes
7353	UFD1	HP:0001873	Thrombocytopenia
7355	SLC35A2	HP:0001155	Abnormality of the hand
7355	SLC35A2	HP:0010864	Intellectual disability, severe
7355	SLC35A2	HP:0002421	Poor head control
7355	SLC35A2	HP:0002418	Abnormal midbrain morphology
7355	SLC35A2	HP:0001272	Cerebellar atrophy
7355	SLC35A2	HP:0001285	Spastic tetraparesis
7355	SLC35A2	HP:0001250	Seizure
7355	SLC35A2	HP:0001252	Hypotonia
7355	SLC35A2	HP:0001249	Intellectual disability
7355	SLC35A2	HP:0001263	Global developmental delay
7355	SLC35A2	HP:0008695	Transient nephrotic syndrome
7355	SLC35A2	HP:0007366	Atrophy/Degeneration affecting the brainstem
7355	SLC35A2	HP:0002540	Inability to walk
7355	SLC35A2	HP:0002539	Cortical dysplasia
7355	SLC35A2	HP:0002521	Hypsarrhythmia
7355	SLC35A2	HP:0002500	Abnormal cerebral white matter morphology
7355	SLC35A2	HP:0000074	Ureteropelvic junction obstruction
7355	SLC35A2	HP:0001382	Joint hypermobility
7355	SLC35A2	HP:0002686	Prenatal maternal abnormality
7355	SLC35A2	HP:0001363	Craniosynostosis
7355	SLC35A2	HP:0001344	Absent speech
7355	SLC35A2	HP:0002673	Coxa valga
7355	SLC35A2	HP:0001305	Dandy-Walker malformation
7355	SLC35A2	HP:0002650	Scoliosis
7355	SLC35A2	HP:0001321	Cerebellar hypoplasia
7355	SLC35A2	HP:0025484	Increased circulating thyroglobulin level
7355	SLC35A2	HP:0000194	Open mouth
7355	SLC35A2	HP:0008947	Infantile muscular hypotonia
7355	SLC35A2	HP:0008936	Axial hypotonia
7355	SLC35A2	HP:0006297	Enamel hypoplasia
7355	SLC35A2	HP:0001423	X-linked dominant inheritance
7355	SLC35A2	HP:0001442	Somatic mosaicism
7355	SLC35A2	HP:0002719	Recurrent infections
7355	SLC35A2	HP:0002715	Abnormality of the immune system
7355	SLC35A2	HP:0002020	Gastroesophageal reflux
7355	SLC35A2	HP:0002086	Abnormality of the respiratory system
7355	SLC35A2	HP:0002079	Hypoplasia of the corpus callosum
7355	SLC35A2	HP:0002059	Cerebral atrophy
7355	SLC35A2	HP:0040288	Nasogastric tube feeding
7355	SLC35A2	HP:0002188	Delayed CNS myelination
7355	SLC35A2	HP:0100490	Camptodactyly of finger
7355	SLC35A2	HP:0002263	Exaggerated cupid's bow
7355	SLC35A2	HP:0100704	Cerebral visual impairment
7355	SLC35A2	HP:0200134	Epileptic encephalopathy
7355	SLC35A2	HP:0002280	Enlarged cisterna magna
7355	SLC35A2	HP:0011968	Feeding difficulties
7355	SLC35A2	HP:0001010	Hypopigmentation of the skin
7355	SLC35A2	HP:0200012	Short corpus callosum
7355	SLC35A2	HP:0025053	Elevated brain N-acetyl aspartate level by MRS
7355	SLC35A2	HP:0003623	Neonatal onset
7355	SLC35A2	HP:0000639	Nystagmus
7355	SLC35A2	HP:0011314	Abnormal long bone morphology
7355	SLC35A2	HP:0001999	Abnormal facial shape
7355	SLC35A2	HP:0004322	Short stature
7355	SLC35A2	HP:0006956	Lateral ventricle dilatation
7355	SLC35A2	HP:0031931	Ocular flutter
7355	SLC35A2	HP:0000707	Abnormality of the nervous system
7355	SLC35A2	HP:0012762	Cerebral white matter atrophy
7355	SLC35A2	HP:0003121	Limb joint contracture
7355	SLC35A2	HP:0005736	Short tibia
7355	SLC35A2	HP:0000924	Abnormality of the skeletal system
7355	SLC35A2	HP:0003186	Inverted nipples
7355	SLC35A2	HP:0003160	Abnormal isoelectric focusing of serum transferrin
7355	SLC35A2	HP:0012803	Anisometropia
7355	SLC35A2	HP:0000826	Precocious puberty
7355	SLC35A2	HP:0000822	Hypertension
7355	SLC35A2	HP:0045060	Aplasia/hypoplasia involving bones of the extremities
7355	SLC35A2	HP:0003265	Neonatal hyperbilirubinemia
7355	SLC35A2	HP:0000951	Abnormality of the skin
7355	SLC35A2	HP:0000938	Osteopenia
7355	SLC35A2	HP:0007704	Paroxysmal involuntary eye movements
7355	SLC35A2	HP:0000286	Epicanthus
7355	SLC35A2	HP:0000280	Coarse facial features
7355	SLC35A2	HP:0000293	Full cheeks
7355	SLC35A2	HP:0000252	Microcephaly
7355	SLC35A2	HP:0001586	Vesicovaginal fistula
7355	SLC35A2	HP:0012210	Abnormal renal morphology
7355	SLC35A2	HP:0000218	High palate
7355	SLC35A2	HP:0025517	Hypoplastic hippocampus
7355	SLC35A2	HP:0001562	Oligohydramnios
7355	SLC35A2	HP:0001531	Failure to thrive in infancy
7355	SLC35A2	HP:0030043	Hip subluxation
7355	SLC35A2	HP:0001511	Intrauterine growth retardation
7355	SLC35A2	HP:0011097	Epileptic spasm
7355	SLC35A2	HP:0011090	Fused teeth
7355	SLC35A2	HP:0012363	Decreased sialylation of O-linked protein glycosylation
7355	SLC35A2	HP:0002910	Elevated hepatic transaminase
7355	SLC35A2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7355	SLC35A2	HP:0012345	Abnormal glycosylation
7355	SLC35A2	HP:0012348	Decreased galactosylation of N-linked protein glycosylation
7355	SLC35A2	HP:0000322	Short philtrum
7355	SLC35A2	HP:0001627	Abnormal heart morphology
7355	SLC35A2	HP:0001636	Tetralogy of Fallot
7355	SLC35A2	HP:0001631	Atrial septal defect
7355	SLC35A2	HP:0000303	Mandibular prognathia
7355	SLC35A2	HP:0011185	EEG with focal epileptiform discharges
7355	SLC35A2	HP:0000407	Sensorineural hearing impairment
7355	SLC35A2	HP:0000486	Strabismus
7355	SLC35A2	HP:0012469	Infantile spasms
7355	SLC35A2	HP:0012471	Thick vermilion border
7355	SLC35A2	HP:0000478	Abnormality of the eye
7355	SLC35A2	HP:0012448	Delayed myelination
7355	SLC35A2	HP:0000474	Thickened nuchal skin fold
7355	SLC35A2	HP:0001762	Talipes equinovarus
7355	SLC35A2	HP:0000431	Wide nasal bridge
7355	SLC35A2	HP:0000510	Rod-cone dystrophy
7355	SLC35A2	HP:0001840	Metatarsus adductus
7355	SLC35A2	HP:0000577	Exotropia
7355	SLC35A2	HP:0000574	Thick eyebrow
7358	UGDH	HP:0010851	EEG with burst suppression
7358	UGDH	HP:0001290	Generalized hypotonia
7358	UGDH	HP:0001284	Areflexia
7358	UGDH	HP:0001250	Seizure
7358	UGDH	HP:0001257	Spasticity
7358	UGDH	HP:0002521	Hypsarrhythmia
7358	UGDH	HP:0025336	Delayed ability to sit
7358	UGDH	HP:0001347	Hyperreflexia
7358	UGDH	HP:0001357	Plagiocephaly
7358	UGDH	HP:0001332	Dystonia
7358	UGDH	HP:0000007	Autosomal recessive inheritance
7358	UGDH	HP:0000179	Thick lower lip vermilion
7358	UGDH	HP:0008936	Axial hypotonia
7358	UGDH	HP:0002072	Chorea
7358	UGDH	HP:0003487	Babinski sign
7358	UGDH	HP:0002119	Ventriculomegaly
7358	UGDH	HP:0002188	Delayed CNS myelination
7358	UGDH	HP:0002179	Opisthotonus
7358	UGDH	HP:0009748	Large earlobe
7358	UGDH	HP:0200134	Epileptic encephalopathy
7358	UGDH	HP:0011344	Severe global developmental delay
7358	UGDH	HP:0000664	Synophrys
7358	UGDH	HP:0012745	Short palpebral fissure
7358	UGDH	HP:0011471	Gastrostomy tube feeding in infancy
7358	UGDH	HP:0000286	Epicanthus
7358	UGDH	HP:0000252	Microcephaly
7358	UGDH	HP:0011097	Epileptic spasm
7358	UGDH	HP:0000319	Smooth philtrum
7358	UGDH	HP:0000307	Pointed chin
7358	UGDH	HP:0000490	Deeply set eye
7358	UGDH	HP:0000508	Ptosis
7358	UGDH	HP:0000581	Blepharophimosis
7360	UGP2	HP:0009890	High anterior hairline
7360	UGP2	HP:0001250	Seizure
7360	UGP2	HP:0001257	Spasticity
7360	UGP2	HP:0002553	Highly arched eyebrow
7360	UGP2	HP:0001347	Hyperreflexia
7360	UGP2	HP:0008872	Feeding difficulties in infancy
7360	UGP2	HP:0001344	Absent speech
7360	UGP2	HP:0000007	Autosomal recessive inheritance
7360	UGP2	HP:0008936	Axial hypotonia
7360	UGP2	HP:0002033	Poor suck
7360	UGP2	HP:0002007	Frontal bossing
7360	UGP2	HP:0002079	Hypoplasia of the corpus callosum
7360	UGP2	HP:0002120	Cerebral cortical atrophy
7360	UGP2	HP:0002187	Intellectual disability, profound
7360	UGP2	HP:0002273	Tetraparesis
7360	UGP2	HP:0002205	Recurrent respiratory infections
7360	UGP2	HP:0002376	Developmental regression
7360	UGP2	HP:0000639	Nystagmus
7360	UGP2	HP:0011344	Severe global developmental delay
7360	UGP2	HP:0000664	Synophrys
7360	UGP2	HP:0000286	Epicanthus
7360	UGP2	HP:0007750	Hypoplasia of the fovea
7360	UGP2	HP:0000252	Microcephaly
7360	UGP2	HP:0002857	Genu valgum
7360	UGP2	HP:0000369	Low-set ears
7360	UGP2	HP:0000341	Narrow forehead
7360	UGP2	HP:0000340	Sloping forehead
7360	UGP2	HP:0000343	Long philtrum
7360	UGP2	HP:0032988	Persistent head lag
7360	UGP2	HP:0005280	Depressed nasal bridge
7360	UGP2	HP:0012450	Chronic constipation
7369	UMOD	HP:0000083	Renal insufficiency
7369	UMOD	HP:0000092	Renal tubular atrophy
7369	UMOD	HP:0000006	Autosomal dominant inheritance
7369	UMOD	HP:0000123	Nephritis
7369	UMOD	HP:0000112	Nephropathy
7369	UMOD	HP:0002149	Hyperuricemia
7369	UMOD	HP:0003676	Progressive
7369	UMOD	HP:0003621	Juvenile onset
7369	UMOD	HP:0001997	Gout
7369	UMOD	HP:0012213	Decreased glomerular filtration rate
7372	UMPS	HP:0032231	Hypochromia
7372	UMPS	HP:0001263	Global developmental delay
7372	UMPS	HP:0000069	Abnormality of the ureter
7372	UMPS	HP:0001385	Hip dysplasia
7372	UMPS	HP:0000007	Autosomal recessive inheritance
7372	UMPS	HP:0003355	Aminoaciduria
7372	UMPS	HP:0003339	Pyrimidine-responsive megaloblastic anemia
7372	UMPS	HP:0003526	Orotic acid crystalluria
7372	UMPS	HP:0002205	Recurrent respiratory infections
7372	UMPS	HP:0004826	Folate-unresponsive megaloblastic anemia
7372	UMPS	HP:0008388	Abnormal toenail morphology
7372	UMPS	HP:0001903	Anemia
7372	UMPS	HP:0000790	Hematuria
7372	UMPS	HP:0004447	Poikilocytosis
7372	UMPS	HP:0003218	Oroticaciduria
7372	UMPS	HP:0003267	Reduced orotidine 5-prime phosphate decarboxylase level
7372	UMPS	HP:0001508	Failure to thrive
7372	UMPS	HP:0000368	Low-set, posteriorly rotated ears
7372	UMPS	HP:0000316	Hypertelorism
7372	UMPS	HP:0001643	Patent ductus arteriosus
7372	UMPS	HP:0001629	Ventricular septal defect
7372	UMPS	HP:0001631	Atrial septal defect
7372	UMPS	HP:0000494	Downslanted palpebral fissures
7372	UMPS	HP:0001744	Splenomegaly
7372	UMPS	HP:0000431	Wide nasal bridge
7372	UMPS	HP:0011273	Anisocytosis
7372	UMPS	HP:0005435	Impaired T cell function
7373	COL14A1	HP:0025114	Hypergranulosis
7373	COL14A1	HP:0002671	Basal cell carcinoma
7373	COL14A1	HP:0012189	Hodgkin lymphoma
7373	COL14A1	HP:0012125	Prostate cancer
7373	COL14A1	HP:0012126	Stomach cancer
7373	COL14A1	HP:0100526	Neoplasm of the lung
7373	COL14A1	HP:0040274	Adenocarcinoma of the small intestine
7373	COL14A1	HP:0040276	Adenocarcinoma of the colon
7373	COL14A1	HP:0008404	Nail dystrophy
7373	COL14A1	HP:0100751	Esophageal neoplasm
7373	COL14A1	HP:0010622	Neoplasm of the skeletal system
7373	COL14A1	HP:0025092	Epidermal acanthosis
7373	COL14A1	HP:0005584	Renal cell carcinoma
7373	COL14A1	HP:0003002	Breast carcinoma
7373	COL14A1	HP:0030692	Brain neoplasm
7373	COL14A1	HP:0045059	Hyperkeratotic papule
7373	COL14A1	HP:0000972	Palmoplantar hyperkeratosis
7373	COL14A1	HP:0000982	Palmoplantar keratoderma
7373	COL14A1	HP:0040162	Orthokeratosis
7373	COL14A1	HP:0002861	Melanoma
7373	COL14A1	HP:0002860	Squamous cell carcinoma
7373	COL14A1	HP:0011124	Abnormal epidermal morphology
7373	COL14A1	HP:0006725	Pancreatic adenocarcinoma
7373	COL14A1	HP:0012500	Verrucous papule
7373	COL14A1	HP:0012531	Pain
7374	UNG	HP:0000031	Epididymitis
7374	UNG	HP:0000007	Autosomal recessive inheritance
7374	UNG	HP:0002718	Recurrent bacterial infections
7374	UNG	HP:0002716	Lymphadenopathy
7374	UNG	HP:0002720	Decreased circulating IgA level
7374	UNG	HP:0002721	Immunodeficiency
7374	UNG	HP:0003496	Increased circulating IgM level
7374	UNG	HP:0200117	Recurrent upper and lower respiratory tract infections
7374	UNG	HP:0004315	Decreased circulating IgG level
7374	UNG	HP:0011463	Childhood onset
7374	UNG	HP:0002959	Impaired Ig class switch recombination
7381	UQCRB	HP:0000007	Autosomal recessive inheritance
7381	UQCRB	HP:0002151	Increased serum lactate
7381	UQCRB	HP:0011924	Decreased activity of mitochondrial complex III
7381	UQCRB	HP:0003593	Infantile onset
7381	UQCRB	HP:0002240	Hepatomegaly
7381	UQCRB	HP:0020078	Alaninuria
7381	UQCRB	HP:0001943	Hypoglycemia
7381	UQCRB	HP:0001942	Metabolic acidosis
7381	UQCRB	HP:0031956	Elevated circulating aspartate aminotransferase concentration
7381	UQCRB	HP:0031964	Elevated circulating alanine aminotransferase concentration
7381	UQCRB	HP:0012759	Neurodevelopmental abnormality
7384	UQCRC1	HP:0001271	Polyneuropathy
7384	UQCRC1	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
7384	UQCRC1	HP:0002506	Diffuse cerebral atrophy
7384	UQCRC1	HP:0000006	Autosomal dominant inheritance
7384	UQCRC1	HP:0002067	Bradykinesia
7384	UQCRC1	HP:0002063	Rigidity
7384	UQCRC1	HP:0003431	Decreased motor nerve conduction velocity
7384	UQCRC1	HP:0003596	Middle age onset
7384	UQCRC1	HP:0003584	Late onset
7384	UQCRC1	HP:0033383	Decreased compound muscle action potential amplitude
7384	UQCRC1	HP:0007078	Decreased amplitude of sensory action potentials
7384	UQCRC1	HP:0002322	Resting tremor
7384	UQCRC1	HP:0000739	Anxiety
7384	UQCRC1	HP:0000716	Depression
7385	UQCRC2	HP:0033504	Elevated circulating fumarate concentration
7385	UQCRC2	HP:0001263	Global developmental delay
7385	UQCRC2	HP:0002572	Episodic vomiting
7385	UQCRC2	HP:0000007	Autosomal recessive inheritance
7385	UQCRC2	HP:0001410	Decreased liver function
7385	UQCRC2	HP:0003348	Hyperalaninemia
7385	UQCRC2	HP:0002033	Poor suck
7385	UQCRC2	HP:0033177	Elevated circulating suberic acid concentration
7385	UQCRC2	HP:0002151	Increased serum lactate
7385	UQCRC2	HP:0003542	Increased serum pyruvate
7385	UQCRC2	HP:0033325	Elevated circulating sebacic acid concentration
7385	UQCRC2	HP:0001943	Hypoglycemia
7385	UQCRC2	HP:0001942	Metabolic acidosis
7385	UQCRC2	HP:0001987	Hyperammonemia
7385	UQCRC2	HP:0000252	Microcephaly
7385	UQCRC2	HP:0002876	Episodic tachypnea
7385	UQCRC2	HP:0001518	Small for gestational age
7385	UQCRC2	HP:0002910	Elevated hepatic transaminase
7385	UQCRC2	HP:0001631	Atrial septal defect
7386	UQCRFS1	HP:0001270	Motor delay
7386	UQCRFS1	HP:0001252	Hypotonia
7386	UQCRFS1	HP:0007418	Alopecia totalis
7386	UQCRFS1	HP:0008872	Feeding difficulties in infancy
7386	UQCRFS1	HP:0001324	Muscle weakness
7386	UQCRFS1	HP:0000007	Autosomal recessive inheritance
7386	UQCRFS1	HP:0002045	Hypothermia
7386	UQCRFS1	HP:0011726	Persistent fetal circulation
7386	UQCRFS1	HP:0004897	Stress/infection-induced lactic acidosis
7386	UQCRFS1	HP:0001085	Papilledema
7386	UQCRFS1	HP:0001081	Cholelithiasis
7386	UQCRFS1	HP:0001928	Abnormality of coagulation
7386	UQCRFS1	HP:0003128	Lactic acidosis
7386	UQCRFS1	HP:0003236	Elevated circulating creatine kinase concentration
7386	UQCRFS1	HP:0002883	Hyperventilation
7386	UQCRFS1	HP:0001518	Small for gestational age
7386	UQCRFS1	HP:0001511	Intrauterine growth retardation
7386	UQCRFS1	HP:0001698	Pericardial effusion
7386	UQCRFS1	HP:0001662	Bradycardia
7386	UQCRFS1	HP:0001629	Ventricular septal defect
7386	UQCRFS1	HP:0001639	Hypertrophic cardiomyopathy
7386	UQCRFS1	HP:0005301	Persistent left superior vena cava
7386	UQCRFS1	HP:0001895	Normochromic anemia
7386	UQCRFS1	HP:0001873	Thrombocytopenia
7388	UQCRH	HP:0008551	Microtia
7388	UQCRH	HP:0001289	Confusion
7388	UQCRH	HP:0000007	Autosomal recessive inheritance
7388	UQCRH	HP:0002788	Recurrent upper respiratory tract infections
7388	UQCRH	HP:0002027	Abdominal pain
7388	UQCRH	HP:0002014	Diarrhea
7388	UQCRH	HP:0002013	Vomiting
7388	UQCRH	HP:0002151	Increased serum lactate
7388	UQCRH	HP:0011924	Decreased activity of mitochondrial complex III
7388	UQCRH	HP:0001943	Hypoglycemia
7388	UQCRH	HP:0001945	Fever
7388	UQCRH	HP:0001942	Metabolic acidosis
7388	UQCRH	HP:0001987	Hyperammonemia
7388	UQCRH	HP:0011463	Childhood onset
7388	UQCRH	HP:0001733	Pancreatitis
7389	UROD	HP:0001394	Cirrhosis
7389	UROD	HP:0007537	Severe photosensitivity
7389	UROD	HP:0000007	Autosomal recessive inheritance
7389	UROD	HP:0000006	Autosomal dominant inheritance
7389	UROD	HP:0012132	Erythroid hyperplasia
7389	UROD	HP:0002797	Osteolysis
7389	UROD	HP:0500046	Seborrhoeic blepharitis
7389	UROD	HP:0001402	Hepatocellular carcinoma
7389	UROD	HP:0040318	Red urine
7389	UROD	HP:0040322	Purple urine
7389	UROD	HP:0040320	Red-brown urine
7389	UROD	HP:0100532	Scleritis
7389	UROD	HP:0010473	Porphyrinuria
7389	UROD	HP:0010472	Abnormal circulating porphyrin concentration
7389	UROD	HP:0003401	Paresthesia
7389	UROD	HP:0002219	Facial hypertrichosis
7389	UROD	HP:0001030	Fragile skin
7389	UROD	HP:0001010	Hypopigmentation of the skin
7389	UROD	HP:0001096	Keratoconjunctivitis
7389	UROD	HP:0001072	Thickened skin
7389	UROD	HP:0200041	Skin erosion
7389	UROD	HP:0100699	Scarring
7389	UROD	HP:0005586	Hyperpigmentation in sun-exposed areas
7389	UROD	HP:0000618	Blindness
7389	UROD	HP:0000656	Ectropion
7389	UROD	HP:0011457	Loss of eyelashes
7389	UROD	HP:0030756	Erythrodontia
7389	UROD	HP:0100324	Scleroderma
7389	UROD	HP:0012804	Corneal ulceration
7389	UROD	HP:0004552	Scarring alopecia of scalp
7389	UROD	HP:0000992	Cutaneous photosensitivity
7389	UROD	HP:0000989	Pruritus
7389	UROD	HP:0000953	Hyperpigmentation of the skin
7389	UROD	HP:0000969	Edema
7389	UROD	HP:0000939	Osteoporosis
7389	UROD	HP:0000938	Osteopenia
7389	UROD	HP:0008066	Abnormal blistering of the skin
7389	UROD	HP:0001596	Alopecia
7389	UROD	HP:0001560	Abnormality of the amniotic fluid
7389	UROD	HP:0012379	Abnormal circulating enzyme concentration or activity
7389	UROD	HP:0001790	Nonimmune hydrops fetalis
7389	UROD	HP:0001744	Splenomegaly
7389	UROD	HP:0005406	Recurrent bacterial skin infections
7389	UROD	HP:0001806	Onycholysis
7389	UROD	HP:0032999	Increased fecal porphyrin
7389	UROD	HP:0001892	Abnormal bleeding
7389	UROD	HP:0001878	Hemolytic anemia
7390	UROS	HP:0500115	Increased stool urobilinogen concentration
7390	UROS	HP:0007537	Severe photosensitivity
7390	UROS	HP:0000007	Autosomal recessive inheritance
7390	UROS	HP:0012187	Increased erythrocyte protoporphyrin concentration
7390	UROS	HP:0012132	Erythroid hyperplasia
7390	UROS	HP:0002797	Osteolysis
7390	UROS	HP:0500046	Seborrhoeic blepharitis
7390	UROS	HP:0002756	Pathologic fracture
7390	UROS	HP:0040318	Red urine
7390	UROS	HP:0040322	Purple urine
7390	UROS	HP:0040320	Red-brown urine
7390	UROS	HP:0100532	Scleritis
7390	UROS	HP:0100512	Low levels of vitamin D
7390	UROS	HP:0010473	Porphyrinuria
7390	UROS	HP:0010472	Abnormal circulating porphyrin concentration
7390	UROS	HP:0009473	Joint contracture of the hand
7390	UROS	HP:0003401	Paresthesia
7390	UROS	HP:0008282	Unconjugated hyperbilirubinemia
7390	UROS	HP:0003577	Congenital onset
7390	UROS	HP:0002240	Hepatomegaly
7390	UROS	HP:0002223	Absent eyebrow
7390	UROS	HP:0002219	Facial hypertrichosis
7390	UROS	HP:0032001	Pink urine
7390	UROS	HP:0001030	Fragile skin
7390	UROS	HP:0001010	Hypopigmentation of the skin
7390	UROS	HP:0001096	Keratoconjunctivitis
7390	UROS	HP:0001072	Thickened skin
7390	UROS	HP:0200041	Skin erosion
7390	UROS	HP:0001081	Cholelithiasis
7390	UROS	HP:0100699	Scarring
7390	UROS	HP:0020181	Reduced haptoglobin level
7390	UROS	HP:0000618	Blindness
7390	UROS	HP:0001923	Reticulocytosis
7390	UROS	HP:0009025	Increased connective tissue
7390	UROS	HP:0000656	Ectropion
7390	UROS	HP:0004322	Short stature
7390	UROS	HP:0011457	Loss of eyelashes
7390	UROS	HP:0004447	Poikilocytosis
7390	UROS	HP:0030756	Erythrodontia
7390	UROS	HP:0100324	Scleroderma
7390	UROS	HP:0012804	Corneal ulceration
7390	UROS	HP:0004552	Scarring alopecia of scalp
7390	UROS	HP:0000998	Hypertrichosis
7390	UROS	HP:0000992	Cutaneous photosensitivity
7390	UROS	HP:0000987	Atypical scarring of skin
7390	UROS	HP:0000989	Pruritus
7390	UROS	HP:0033009	Increased fecal coproporphyrin 1
7390	UROS	HP:0000953	Hyperpigmentation of the skin
7390	UROS	HP:0000952	Jaundice
7390	UROS	HP:0000969	Edema
7390	UROS	HP:0000939	Osteoporosis
7390	UROS	HP:0000938	Osteopenia
7390	UROS	HP:0008066	Abnormal blistering of the skin
7390	UROS	HP:0008069	Neoplasm of the skin
7390	UROS	HP:0001596	Alopecia
7390	UROS	HP:0012217	Increased urinary porphobilinogen
7390	UROS	HP:0001560	Abnormality of the amniotic fluid
7390	UROS	HP:0002860	Squamous cell carcinoma
7390	UROS	HP:0002953	Vertebral compression fracture
7390	UROS	HP:0001790	Nonimmune hydrops fetalis
7390	UROS	HP:0001744	Splenomegaly
7390	UROS	HP:0005406	Recurrent bacterial skin infections
7390	UROS	HP:0011273	Anisocytosis
7390	UROS	HP:0000509	Conjunctivitis
7390	UROS	HP:0001892	Abnormal bleeding
7390	UROS	HP:0000559	Corneal scarring
7390	UROS	HP:0001882	Leukopenia
7390	UROS	HP:0001878	Hemolytic anemia
7390	UROS	HP:0001873	Thrombocytopenia
7399	USH2A	HP:0001123	Visual field defect
7399	USH2A	HP:0001251	Ataxia
7399	USH2A	HP:0001249	Intellectual disability
7399	USH2A	HP:0008736	Hypoplasia of penis
7399	USH2A	HP:0007360	Aplasia/Hypoplasia of the cerebellum
7399	USH2A	HP:0001347	Hyperreflexia
7399	USH2A	HP:0000035	Abnormal testis morphology
7399	USH2A	HP:0000007	Autosomal recessive inheritance
7399	USH2A	HP:0012157	Subcortical cerebral atrophy
7399	USH2A	HP:0000135	Hypogonadism
7399	USH2A	HP:0007675	Progressive night blindness
7399	USH2A	HP:0005978	Type II diabetes mellitus
7399	USH2A	HP:0002120	Cerebral cortical atrophy
7399	USH2A	HP:0100753	Schizophrenia
7399	USH2A	HP:0008527	Congenital sensorineural hearing impairment
7399	USH2A	HP:0000639	Nystagmus
7399	USH2A	HP:0000648	Optic atrophy
7399	USH2A	HP:0000618	Blindness
7399	USH2A	HP:0000613	Photophobia
7399	USH2A	HP:0000602	Ophthalmoplegia
7399	USH2A	HP:0000682	Abnormal dental enamel morphology
7399	USH2A	HP:0000691	Microdontia
7399	USH2A	HP:0000662	Nyctalopia
7399	USH2A	HP:0000670	Carious teeth
7399	USH2A	HP:0000738	Hallucinations
7399	USH2A	HP:0000739	Anxiety
7399	USH2A	HP:0000716	Depression
7399	USH2A	HP:0000842	Hyperinsulinemia
7399	USH2A	HP:0000987	Atypical scarring of skin
7399	USH2A	HP:0008046	Abnormal retinal vascular morphology
7399	USH2A	HP:0007703	Abnormality of retinal pigmentation
7399	USH2A	HP:0007737	Bone spicule pigmentation of the retina
7399	USH2A	HP:0007730	Iris hypopigmentation
7399	USH2A	HP:0001513	Obesity
7399	USH2A	HP:0007843	Attenuation of retinal blood vessels
7399	USH2A	HP:0011073	Abnormality of dental color
7399	USH2A	HP:0012377	Hemianopia
7399	USH2A	HP:0000359	Abnormality of the inner ear
7399	USH2A	HP:0000407	Sensorineural hearing impairment
7399	USH2A	HP:0000405	Conductive hearing impairment
7399	USH2A	HP:0000463	Anteverted nares
7399	USH2A	HP:0000431	Wide nasal bridge
7399	USH2A	HP:0000518	Cataract
7399	USH2A	HP:0000510	Rod-cone dystrophy
7399	USH2A	HP:0000512	Abnormal electroretinogram
7399	USH2A	HP:0000505	Visual impairment
7399	USH2A	HP:0000501	Glaucoma
7399	USH2A	HP:0000575	Scotoma
7399	USH2A	HP:0000563	Keratoconus
7399	USH2A	HP:0000572	Visual loss
7399	USH2A	HP:0000545	Myopia
7401	CLRN1	HP:0001133	Constriction of peripheral visual field
7401	CLRN1	HP:0001123	Visual field defect
7401	CLRN1	HP:0001251	Ataxia
7401	CLRN1	HP:0001249	Intellectual disability
7401	CLRN1	HP:0008736	Hypoplasia of penis
7401	CLRN1	HP:0001347	Hyperreflexia
7401	CLRN1	HP:0000035	Abnormal testis morphology
7401	CLRN1	HP:0000007	Autosomal recessive inheritance
7401	CLRN1	HP:0000006	Autosomal dominant inheritance
7401	CLRN1	HP:0000135	Hypogonadism
7401	CLRN1	HP:0007688	Undetectable light- and dark-adapted electroretinogram
7401	CLRN1	HP:0007675	Progressive night blindness
7401	CLRN1	HP:0007663	Reduced visual acuity
7401	CLRN1	HP:0001419	X-linked recessive inheritance
7401	CLRN1	HP:0005978	Type II diabetes mellitus
7401	CLRN1	HP:0003577	Congenital onset
7401	CLRN1	HP:0100753	Schizophrenia
7401	CLRN1	HP:0008499	High hypermetropia
7401	CLRN1	HP:0000639	Nystagmus
7401	CLRN1	HP:0000648	Optic atrophy
7401	CLRN1	HP:0000618	Blindness
7401	CLRN1	HP:0000613	Photophobia
7401	CLRN1	HP:0000602	Ophthalmoplegia
7401	CLRN1	HP:0000662	Nyctalopia
7401	CLRN1	HP:0000738	Hallucinations
7401	CLRN1	HP:0000739	Anxiety
7401	CLRN1	HP:0000716	Depression
7401	CLRN1	HP:0011463	Childhood onset
7401	CLRN1	HP:0000842	Hyperinsulinemia
7401	CLRN1	HP:0000987	Atypical scarring of skin
7401	CLRN1	HP:0008046	Abnormal retinal vascular morphology
7401	CLRN1	HP:0007703	Abnormality of retinal pigmentation
7401	CLRN1	HP:0007737	Bone spicule pigmentation of the retina
7401	CLRN1	HP:0007730	Iris hypopigmentation
7401	CLRN1	HP:0001513	Obesity
7401	CLRN1	HP:0007843	Attenuation of retinal blood vessels
7401	CLRN1	HP:0012377	Hemianopia
7401	CLRN1	HP:0000375	Abnormal cochlea morphology
7401	CLRN1	HP:0031605	Abnormality of fundus pigmentation
7401	CLRN1	HP:0000407	Sensorineural hearing impairment
7401	CLRN1	HP:0000405	Conductive hearing impairment
7401	CLRN1	HP:0000483	Astigmatism
7401	CLRN1	HP:0000463	Anteverted nares
7401	CLRN1	HP:0001751	Abnormal vestibular function
7401	CLRN1	HP:0000431	Wide nasal bridge
7401	CLRN1	HP:0001756	Vestibular hypofunction
7401	CLRN1	HP:0000518	Cataract
7401	CLRN1	HP:0000510	Rod-cone dystrophy
7401	CLRN1	HP:0000512	Abnormal electroretinogram
7401	CLRN1	HP:0000505	Visual impairment
7401	CLRN1	HP:0000501	Glaucoma
7401	CLRN1	HP:0000575	Scotoma
7401	CLRN1	HP:0000563	Keratoconus
7401	CLRN1	HP:0000572	Visual loss
7403	KDM6A	HP:0001156	Brachydactyly
7403	KDM6A	HP:0001290	Generalized hypotonia
7403	KDM6A	HP:0001256	Intellectual disability, mild
7403	KDM6A	HP:0001250	Seizure
7403	KDM6A	HP:0001252	Hypotonia
7403	KDM6A	HP:0001249	Intellectual disability
7403	KDM6A	HP:0001260	Dysarthria
7403	KDM6A	HP:0001263	Global developmental delay
7403	KDM6A	HP:0002566	Intestinal malrotation
7403	KDM6A	HP:0008736	Hypoplasia of penis
7403	KDM6A	HP:0008678	Renal hypoplasia/aplasia
7403	KDM6A	HP:0010978	Abnormality of immune system physiology
7403	KDM6A	HP:0007334	Bilateral tonic-clonic seizure with focal onset
7403	KDM6A	HP:0001212	Prominent fingertip pads
7403	KDM6A	HP:0002553	Highly arched eyebrow
7403	KDM6A	HP:0032315	Areolar fullness
7403	KDM6A	HP:0000085	Horseshoe kidney
7403	KDM6A	HP:0000081	Duplicated collecting system
7403	KDM6A	HP:0000074	Ureteropelvic junction obstruction
7403	KDM6A	HP:0001374	Congenital hip dislocation
7403	KDM6A	HP:0001373	Joint dislocation
7403	KDM6A	HP:0000054	Micropenis
7403	KDM6A	HP:0001385	Hip dysplasia
7403	KDM6A	HP:0001388	Joint laxity
7403	KDM6A	HP:0001382	Joint hypermobility
7403	KDM6A	HP:0000047	Hypospadias
7403	KDM6A	HP:0000028	Cryptorchidism
7403	KDM6A	HP:0008897	Postnatal growth retardation
7403	KDM6A	HP:0008872	Feeding difficulties in infancy
7403	KDM6A	HP:0007477	Abnormal dermatoglyphics
7403	KDM6A	HP:0000006	Autosomal dominant inheritance
7403	KDM6A	HP:0002650	Scoliosis
7403	KDM6A	HP:0000196	Lower lip pit
7403	KDM6A	HP:0000164	Abnormality of the dentition
7403	KDM6A	HP:0001488	Bilateral ptosis
7403	KDM6A	HP:0000175	Cleft palate
7403	KDM6A	HP:0007655	Eversion of lateral third of lower eyelids
7403	KDM6A	HP:0000126	Hydronephrosis
7403	KDM6A	HP:0001423	X-linked dominant inheritance
7403	KDM6A	HP:0002719	Recurrent infections
7403	KDM6A	HP:0002025	Anal stenosis
7403	KDM6A	HP:0002023	Anal atresia
7403	KDM6A	HP:0002024	Malabsorption
7403	KDM6A	HP:0002000	Short columella
7403	KDM6A	HP:0003312	Abnormal form of the vertebral bodies
7403	KDM6A	HP:0003316	Butterfly vertebrae
7403	KDM6A	HP:0100542	Abnormal localization of kidney
7403	KDM6A	HP:0003468	Abnormal vertebral morphology
7403	KDM6A	HP:0002120	Cerebral cortical atrophy
7403	KDM6A	HP:0002119	Ventriculomegaly
7403	KDM6A	HP:0002100	Recurrent aspiration pneumonia
7403	KDM6A	HP:0004736	Crossed fused renal ectopia
7403	KDM6A	HP:0003577	Congenital onset
7403	KDM6A	HP:0011968	Feeding difficulties
7403	KDM6A	HP:0002384	Focal impaired awareness seizure
7403	KDM6A	HP:0001007	Hirsutism
7403	KDM6A	HP:0002353	EEG abnormality
7403	KDM6A	HP:0200055	Small hand
7403	KDM6A	HP:0008428	Vertebral clefting
7403	KDM6A	HP:0000639	Nystagmus
7403	KDM6A	HP:0000637	Long palpebral fissure
7403	KDM6A	HP:0001973	Autoimmune thrombocytopenia
7403	KDM6A	HP:0000695	Natal tooth
7403	KDM6A	HP:0000691	Microdontia
7403	KDM6A	HP:0000689	Dental malocclusion
7403	KDM6A	HP:0000687	Widely spaced teeth
7403	KDM6A	HP:0000668	Hypodontia
7403	KDM6A	HP:0001998	Neonatal hypoglycemia
7403	KDM6A	HP:0004325	Decreased body weight
7403	KDM6A	HP:0004322	Short stature
7403	KDM6A	HP:0006956	Lateral ventricle dilatation
7403	KDM6A	HP:0005692	Joint hyperflexibility
7403	KDM6A	HP:0011461	Fetal onset
7403	KDM6A	HP:0000776	Congenital diaphragmatic hernia
7403	KDM6A	HP:0004467	Preauricular pit
7403	KDM6A	HP:0000851	Congenital hypothyroidism
7403	KDM6A	HP:0000826	Precocious puberty
7403	KDM6A	HP:0009237	Short 5th finger
7403	KDM6A	HP:0045075	Sparse eyebrow
7403	KDM6A	HP:0100267	Lip pit
7403	KDM6A	HP:0010314	Premature thelarche
7403	KDM6A	HP:0000957	Cafe-au-lait spot
7403	KDM6A	HP:0005819	Short middle phalanx of finger
7403	KDM6A	HP:0000286	Epicanthus
7403	KDM6A	HP:0000298	Mask-like facies
7403	KDM6A	HP:0002827	Hip dislocation
7403	KDM6A	HP:0000238	Hydrocephalus
7403	KDM6A	HP:0000252	Microcephaly
7403	KDM6A	HP:0000218	High palate
7403	KDM6A	HP:0000202	Orofacial cleft
7403	KDM6A	HP:0001508	Failure to thrive
7403	KDM6A	HP:0001511	Intrauterine growth retardation
7403	KDM6A	HP:0001510	Growth delay
7403	KDM6A	HP:0001513	Obesity
7403	KDM6A	HP:0000384	Preauricular skin tag
7403	KDM6A	HP:0000378	Cupped ear
7403	KDM6A	HP:0005218	Anoperineal fistula
7403	KDM6A	HP:0002937	Hemivertebrae
7403	KDM6A	HP:0001612	Weak cry
7403	KDM6A	HP:0006482	Abnormality of dental morphology
7403	KDM6A	HP:0000365	Hearing impairment
7403	KDM6A	HP:0000358	Posteriorly rotated ears
7403	KDM6A	HP:0000369	Low-set ears
7403	KDM6A	HP:0001671	Abnormal cardiac septum morphology
7403	KDM6A	HP:0001680	Coarctation of aorta
7403	KDM6A	HP:0000347	Micrognathia
7403	KDM6A	HP:0001642	Pulmonic stenosis
7403	KDM6A	HP:0001629	Ventricular septal defect
7403	KDM6A	HP:0001631	Atrial septal defect
7403	KDM6A	HP:0006695	Atrioventricular canal defect
7403	KDM6A	HP:0005338	Sparse lateral eyebrow
7403	KDM6A	HP:0000407	Sensorineural hearing impairment
7403	KDM6A	HP:0000403	Recurrent otitis media
7403	KDM6A	HP:0000405	Conductive hearing impairment
7403	KDM6A	HP:0000400	Macrotia
7403	KDM6A	HP:0000486	Strabismus
7403	KDM6A	HP:0000482	Microcornea
7403	KDM6A	HP:0000455	Broad nasal tip
7403	KDM6A	HP:0000437	Depressed nasal tip
7403	KDM6A	HP:0000411	Protruding ear
7403	KDM6A	HP:0000431	Wide nasal bridge
7403	KDM6A	HP:0000527	Long eyelashes
7403	KDM6A	HP:0000508	Ptosis
7403	KDM6A	HP:0000592	Blue sclerae
7403	KDM6A	HP:0011231	Prominent eyelashes
7403	KDM6A	HP:0000589	Coloboma
7403	KDM6A	HP:0001878	Hemolytic anemia
7407	VARS1	HP:0002421	Poor head control
7407	VARS1	HP:0001290	Generalized hypotonia
7407	VARS1	HP:0001272	Cerebellar atrophy
7407	VARS1	HP:0001270	Motor delay
7407	VARS1	HP:0001250	Seizure
7407	VARS1	HP:0002580	Volvulus
7407	VARS1	HP:0001252	Hypotonia
7407	VARS1	HP:0001249	Intellectual disability
7407	VARS1	HP:0001263	Global developmental delay
7407	VARS1	HP:0007359	Focal-onset seizure
7407	VARS1	HP:0002540	Inability to walk
7407	VARS1	HP:0001344	Absent speech
7407	VARS1	HP:0000007	Autosomal recessive inheritance
7407	VARS1	HP:0500041	Myopic astigmatism
7407	VARS1	HP:0002783	Recurrent lower respiratory tract infections
7407	VARS1	HP:0002015	Dysphagia
7407	VARS1	HP:0002079	Hypoplasia of the corpus callosum
7407	VARS1	HP:0002059	Cerebral atrophy
7407	VARS1	HP:0002120	Cerebral cortical atrophy
7407	VARS1	HP:0002133	Status epilepticus
7407	VARS1	HP:0002187	Intellectual disability, profound
7407	VARS1	HP:0003593	Infantile onset
7407	VARS1	HP:0003577	Congenital onset
7407	VARS1	HP:0002283	Global brain atrophy
7407	VARS1	HP:0003676	Progressive
7407	VARS1	HP:0008513	Bilateral conductive hearing impairment
7407	VARS1	HP:0000695	Natal tooth
7407	VARS1	HP:0003196	Short nose
7407	VARS1	HP:0006466	Ankle flexion contracture
7407	VARS1	HP:0000237	Small anterior fontanelle
7407	VARS1	HP:0000253	Progressive microcephaly
7407	VARS1	HP:0000252	Microcephaly
7407	VARS1	HP:0001612	Weak cry
7407	VARS1	HP:0000369	Low-set ears
7407	VARS1	HP:0000340	Sloping forehead
7407	VARS1	HP:0000347	Micrognathia
7407	VARS1	HP:0001623	Breech presentation
7407	VARS1	HP:0001622	Premature birth
7407	VARS1	HP:0011182	Interictal epileptiform activity
7407	VARS1	HP:0005280	Depressed nasal bridge
7407	VARS1	HP:0000527	Long eyelashes
7407	VARS1	HP:0000545	Myopia
7414	VCL	HP:0000006	Autosomal dominant inheritance
7414	VCL	HP:0033755	Increased left ventricular end-diastolic volume
7414	VCL	HP:0002092	Pulmonary arterial hypertension
7414	VCL	HP:0100578	Lipoatrophy
7414	VCL	HP:0003457	EMG abnormality
7414	VCL	HP:0003596	Middle age onset
7414	VCL	HP:0003584	Late onset
7414	VCL	HP:0032092	Left ventricular outflow tract obstruction
7414	VCL	HP:0012664	Reduced left ventricular ejection fraction
7414	VCL	HP:0031992	Apical hypertrophic cardiomyopathy
7414	VCL	HP:0011462	Young adult onset
7414	VCL	HP:0003198	Myopathy
7414	VCL	HP:0003236	Elevated circulating creatine kinase concentration
7414	VCL	HP:0034313	Hyperdynamic left ventricular ejection fraction
7414	VCL	HP:0000982	Palmoplantar keratoderma
7414	VCL	HP:0031318	Myofiber disarray
7414	VCL	HP:0031319	Cardiomyocyte hypertrophy
7414	VCL	HP:0002875	Exertional dyspnea
7414	VCL	HP:0001644	Dilated cardiomyopathy
7414	VCL	HP:0001639	Hypertrophic cardiomyopathy
7414	VCL	HP:0001635	Congestive heart failure
7414	VCL	HP:0006685	Endocardial fibrosis
7414	VCL	HP:0000407	Sensorineural hearing impairment
7414	VCL	HP:0001874	Abnormality of neutrophils
7415	VCP	HP:0002493	Upper motor neuron dysfunction
7415	VCP	HP:0002465	Poor speech
7415	VCP	HP:0002463	Language impairment
7415	VCP	HP:0002460	Distal muscle weakness
7415	VCP	HP:0002442	Dyscalculia
7415	VCP	HP:0002450	Abnormal motor neuron morphology
7415	VCP	HP:0002446	Astrocytosis
7415	VCP	HP:0007328	Impaired pain sensation
7415	VCP	HP:0008619	Bilateral sensorineural hearing impairment
7415	VCP	HP:0007289	Limb fasciculations
7415	VCP	HP:0003749	Pelvic girdle muscle weakness
7415	VCP	HP:0002427	Expressive aphasia
7415	VCP	HP:0003731	Quadriceps muscle weakness
7415	VCP	HP:0003724	Shoulder girdle muscle atrophy
7415	VCP	HP:0003701	Proximal muscle weakness
7415	VCP	HP:0003700	Generalized amyotrophy
7415	VCP	HP:0001297	Stroke
7415	VCP	HP:0001293	Cranial nerve compression
7415	VCP	HP:0001268	Mental deterioration
7415	VCP	HP:0001288	Gait disturbance
7415	VCP	HP:0001283	Bulbar palsy
7415	VCP	HP:0001284	Areflexia
7415	VCP	HP:0001249	Intellectual disability
7415	VCP	HP:0001265	Hyporeflexia
7415	VCP	HP:0001260	Dysarthria
7415	VCP	HP:0001258	Spastic paraplegia
7415	VCP	HP:0001257	Spasticity
7415	VCP	HP:0007373	Motor neuron atrophy
7415	VCP	HP:0007354	Amyotrophic lateral sclerosis
7415	VCP	HP:0007340	Lower limb muscle weakness
7415	VCP	HP:0002515	Waddling gait
7415	VCP	HP:0003828	Variable expressivity
7415	VCP	HP:0002505	Loss of ambulation
7415	VCP	HP:0002500	Abnormal cerebral white matter morphology
7415	VCP	HP:0003805	Rimmed vacuoles
7415	VCP	HP:0003803	Type 1 muscle fiber predominance
7415	VCP	HP:0001397	Hepatic steatosis
7415	VCP	HP:0002683	Abnormal calvaria morphology
7415	VCP	HP:0000020	Urinary incontinence
7415	VCP	HP:0001349	Facial diplegia
7415	VCP	HP:0001348	Brisk reflexes
7415	VCP	HP:0001347	Hyperreflexia
7415	VCP	HP:0012083	Ubiquitin-positive cerebral inclusion bodies
7415	VCP	HP:0001332	Dystonia
7415	VCP	HP:0002659	Increased susceptibility to fractures
7415	VCP	HP:0001324	Muscle weakness
7415	VCP	HP:0001337	Tremor
7415	VCP	HP:0000006	Autosomal dominant inheritance
7415	VCP	HP:0001308	Tongue fasciculations
7415	VCP	HP:0002653	Bone pain
7415	VCP	HP:0001315	Reduced tendon reflexes
7415	VCP	HP:0002644	Abnormal pelvic girdle bone morphology
7415	VCP	HP:0001300	Parkinsonism
7415	VCP	HP:0002607	Bowel incontinence
7415	VCP	HP:0002797	Osteolysis
7415	VCP	HP:0025425	Laryngospasm
7415	VCP	HP:0008994	Proximal muscle weakness in lower limbs
7415	VCP	HP:0008997	Proximal muscle weakness in upper limbs
7415	VCP	HP:0008988	Pelvic girdle muscle atrophy
7415	VCP	HP:0008978	Necrotizing myopathy
7415	VCP	HP:0008959	Distal upper limb muscle weakness
7415	VCP	HP:0008946	Pelvic girdle amyotrophy
7415	VCP	HP:0008954	Intrinsic hand muscle atrophy
7415	VCP	HP:0002795	Abnormal respiratory system physiology
7415	VCP	HP:0002792	Reduced vital capacity
7415	VCP	HP:0002757	Recurrent fractures
7415	VCP	HP:0002756	Pathologic fracture
7415	VCP	HP:0001437	Abnormality of the musculature of the lower limbs
7415	VCP	HP:0002017	Nausea and vomiting
7415	VCP	HP:0003326	Myalgia
7415	VCP	HP:0002015	Dysphagia
7415	VCP	HP:0003307	Hyperlordosis
7415	VCP	HP:0003324	Generalized muscle weakness
7415	VCP	HP:0002094	Dyspnea
7415	VCP	HP:0002069	Bilateral tonic-clonic seizure
7415	VCP	HP:0003394	Muscle spasm
7415	VCP	HP:0002064	Spastic gait
7415	VCP	HP:0002061	Lower limb spasticity
7415	VCP	HP:0003390	Sensory axonal neuropathy
7415	VCP	HP:0002073	Progressive cerebellar ataxia
7415	VCP	HP:0002071	Abnormality of extrapyramidal motor function
7415	VCP	HP:0003376	Steppage gait
7415	VCP	HP:0008180	Mildly elevated creatine kinase
7415	VCP	HP:0003477	Peripheral axonal neuropathy
7415	VCP	HP:0002145	Frontotemporal dementia
7415	VCP	HP:0002141	Gait imbalance
7415	VCP	HP:0003470	Paralysis
7415	VCP	HP:0003487	Babinski sign
7415	VCP	HP:0002136	Broad-based gait
7415	VCP	HP:0002127	Abnormal upper motor neuron morphology
7415	VCP	HP:0003458	EMG: myopathic abnormalities
7415	VCP	HP:0003444	EMG: chronic denervation signs
7415	VCP	HP:0003445	EMG: neuropathic changes
7415	VCP	HP:0003438	Absent Achilles reflex
7415	VCP	HP:0003418	Back pain
7415	VCP	HP:0002186	Apraxia
7415	VCP	HP:0002185	Neurofibrillary tangles
7415	VCP	HP:0002180	Neurodegeneration
7415	VCP	HP:0002166	Impaired vibration sensation in the lower limbs
7415	VCP	HP:0002171	Gliosis
7415	VCP	HP:0010549	Weakness due to upper motor neuron dysfunction
7415	VCP	HP:0010529	Echolalia
7415	VCP	HP:0010522	Dyslexia
7415	VCP	HP:0010526	Dysgraphia
7415	VCP	HP:0010523	Alexia
7415	VCP	HP:0011842	Abnormal skeletal morphology
7415	VCP	HP:0003401	Paresthesia
7415	VCP	HP:0003596	Middle age onset
7415	VCP	HP:0002273	Tetraparesis
7415	VCP	HP:0003551	Difficulty climbing stairs
7415	VCP	HP:0003547	Shoulder girdle muscle weakness
7415	VCP	HP:0003557	Increased variability in muscle fiber diameter
7415	VCP	HP:0002283	Global brain atrophy
7415	VCP	HP:0007010	Poor fine motor coordination
7415	VCP	HP:0007002	Motor axonal neuropathy
7415	VCP	HP:0010639	Elevated alkaline phosphatase of bone origin
7415	VCP	HP:0008322	Abnormal mitochondrial morphology
7415	VCP	HP:0010628	Facial palsy
7415	VCP	HP:0002385	Paraparesis
7415	VCP	HP:0002380	Fasciculations
7415	VCP	HP:0002381	Aphasia
7415	VCP	HP:0002395	Lower limb hyperreflexia
7415	VCP	HP:0002366	Abnormal lower motor neuron morphology
7415	VCP	HP:0003693	Distal amyotrophy
7415	VCP	HP:0003691	Scapular winging
7415	VCP	HP:0003690	Limb muscle weakness
7415	VCP	HP:0002359	Frequent falls
7415	VCP	HP:0002371	Loss of speech
7415	VCP	HP:0002344	Progressive neurologic deterioration
7415	VCP	HP:0003676	Progressive
7415	VCP	HP:0002355	Difficulty walking
7415	VCP	HP:0002354	Memory impairment
7415	VCP	HP:0002314	Degeneration of the lateral corticospinal tracts
7415	VCP	HP:0010830	Impaired tactile sensation
7415	VCP	HP:0007141	Sensorimotor neuropathy
7415	VCP	HP:0007112	Temporal cortical atrophy
7415	VCP	HP:0002300	Mutism
7415	VCP	HP:0007190	Neuronal loss in the cerebral cortex
7415	VCP	HP:0009073	Progressive proximal muscle weakness
7415	VCP	HP:0006892	Frontotemporal cerebral atrophy
7415	VCP	HP:0006886	Impaired distal vibration sensation
7415	VCP	HP:0000605	Supranuclear gaze palsy
7415	VCP	HP:0009053	Distal lower limb muscle weakness
7415	VCP	HP:0009046	Difficulty running
7415	VCP	HP:0012671	Abulia
7415	VCP	HP:0009027	Foot dorsiflexor weakness
7415	VCP	HP:0012658	Abnormal brain FDG positron emission tomography
7415	VCP	HP:0011314	Abnormal long bone morphology
7415	VCP	HP:0009005	Weakness of the intrinsic hand muscles
7415	VCP	HP:0004322	Short stature
7415	VCP	HP:0006977	Deficit in grammar
7415	VCP	HP:0006944	Abolished vibration sense
7415	VCP	HP:0006913	Frontal cortical atrophy
7415	VCP	HP:0030692	Brain neoplasm
7415	VCP	HP:0034159	Paget disease of bone
7415	VCP	HP:0004347	Weakness of muscles of respiration
7415	VCP	HP:0000757	Lack of insight
7415	VCP	HP:0000751	Personality changes
7415	VCP	HP:0000762	Decreased nerve conduction velocity
7415	VCP	HP:0000738	Hallucinations
7415	VCP	HP:0000737	Irritability
7415	VCP	HP:0000739	Anxiety
7415	VCP	HP:0000734	Disinhibition
7415	VCP	HP:0000733	Abnormal repetitive mannerisms
7415	VCP	HP:0000741	Apathy
7415	VCP	HP:0000719	Inappropriate behavior
7415	VCP	HP:0000716	Depression
7415	VCP	HP:0000718	Aggressive behavior
7415	VCP	HP:0000712	Emotional lability
7415	VCP	HP:0000711	Restlessness
7415	VCP	HP:0000713	Agitation
7415	VCP	HP:0000710	Hyperorality
7415	VCP	HP:0000726	Dementia
7415	VCP	HP:0000723	Restrictive behavior
7415	VCP	HP:0000709	Psychosis
7415	VCP	HP:0000708	Atypical behavior
7415	VCP	HP:0011448	Ankle clonus
7415	VCP	HP:0009130	Hand muscle atrophy
7415	VCP	HP:0003198	Myopathy
7415	VCP	HP:0000925	Abnormality of the vertebral column
7415	VCP	HP:0100315	Lewy bodies
7415	VCP	HP:0003155	Elevated circulating alkaline phosphatase concentration
7415	VCP	HP:0004490	Calvarial hyperostosis
7415	VCP	HP:0003236	Elevated circulating creatine kinase concentration
7415	VCP	HP:0004563	Increased spinal bone density
7415	VCP	HP:0003202	Skeletal muscle atrophy
7415	VCP	HP:0030838	Hip pain
7415	VCP	HP:0100256	Senile plaques
7415	VCP	HP:0002829	Arthralgia
7415	VCP	HP:0006389	Limited knee flexion
7415	VCP	HP:0000217	Xerostomia
7415	VCP	HP:0002878	Respiratory failure
7415	VCP	HP:0002839	Urinary bladder sphincter dysfunction
7415	VCP	HP:0030051	Tip-toe gait
7415	VCP	HP:0012378	Fatigue
7415	VCP	HP:0002938	Lumbar hyperlordosis
7415	VCP	HP:0002936	Distal sensory impairment
7415	VCP	HP:0030196	Fatigable weakness of respiratory muscles
7415	VCP	HP:0030195	Fatigable weakness of swallowing muscles
7415	VCP	HP:0030192	Fatigable weakness of bulbar muscles
7415	VCP	HP:0001635	Congestive heart failure
7415	VCP	HP:0001638	Cardiomyopathy
7415	VCP	HP:0030213	Emotional blunting
7415	VCP	HP:0030212	Collectionism
7415	VCP	HP:0030223	Manifestations of perseverative thought or action
7415	VCP	HP:0012444	Brain atrophy
7415	VCP	HP:0000474	Thickened nuchal skin fold
7415	VCP	HP:0001765	Hammertoe
7415	VCP	HP:0025710	Late young adult onset
7415	VCP	HP:0001761	Pes cavus
7415	VCP	HP:0000518	Cataract
7415	VCP	HP:0000508	Ptosis
7415	VCP	HP:0012548	Fatty replacement of skeletal muscle
7415	VCP	HP:0011204	EEG with continuous slow activity
7415	VCP	HP:0030391	Spoken word recognition deficit
7415	VCP	HP:0012531	Pain
7421	VDR	HP:0001290	Generalized hypotonia
7421	VDR	HP:0001270	Motor delay
7421	VDR	HP:0001288	Gait disturbance
7421	VDR	HP:0001252	Hypotonia
7421	VDR	HP:0012062	Bone cyst
7421	VDR	HP:0001373	Joint dislocation
7421	VDR	HP:0002663	Delayed epiphyseal ossification
7421	VDR	HP:0000007	Autosomal recessive inheritance
7421	VDR	HP:0002653	Bone pain
7421	VDR	HP:0002650	Scoliosis
7421	VDR	HP:0000164	Abnormality of the dentition
7421	VDR	HP:0002797	Osteolysis
7421	VDR	HP:0006323	Premature loss of primary teeth
7421	VDR	HP:0006297	Enamel hypoplasia
7421	VDR	HP:0002757	Recurrent fractures
7421	VDR	HP:0002753	Thin bony cortex
7421	VDR	HP:0002752	Sparse bone trabeculae
7421	VDR	HP:0002748	Rickets
7421	VDR	HP:0002749	Osteomalacia
7421	VDR	HP:0003330	Abnormal bone structure
7421	VDR	HP:0002007	Frontal bossing
7421	VDR	HP:0003312	Abnormal form of the vertebral bodies
7421	VDR	HP:0002148	Hypophosphatemia
7421	VDR	HP:0002199	Hypocalcemic seizures
7421	VDR	HP:0010502	Fibular bowing
7421	VDR	HP:0003593	Infantile onset
7421	VDR	HP:0002289	Alopecia universalis
7421	VDR	HP:0003698	Difficulty standing
7421	VDR	HP:0002355	Difficulty walking
7421	VDR	HP:0100670	Coarse metaphyseal trabecularization
7421	VDR	HP:0003623	Neonatal onset
7421	VDR	HP:0000684	Delayed eruption of teeth
7421	VDR	HP:0009023	Abdominal wall muscle weakness
7421	VDR	HP:0000670	Carious teeth
7421	VDR	HP:0004322	Short stature
7421	VDR	HP:0003029	Enlargement of the ankles
7421	VDR	HP:0003013	Bulging epiphyses
7421	VDR	HP:0003025	Metaphyseal irregularity
7421	VDR	HP:0003020	Enlargement of the wrists
7421	VDR	HP:0000765	Abnormal thorax morphology
7421	VDR	HP:0000737	Irritability
7421	VDR	HP:0009124	Abnormal adipose tissue morphology
7421	VDR	HP:0000787	Nephrolithiasis
7421	VDR	HP:0003106	Subperiosteal bone resorption
7421	VDR	HP:0003155	Elevated circulating alkaline phosphatase concentration
7421	VDR	HP:0003165	Elevated circulating parathyroid hormone level
7421	VDR	HP:0004492	Widely patent fontanelles and sutures
7421	VDR	HP:0000893	Bulging of the costochondral junction
7421	VDR	HP:0000886	Deformed rib cage
7421	VDR	HP:0000867	Secondary hyperparathyroidism
7421	VDR	HP:0000843	Hyperparathyroidism
7421	VDR	HP:0003272	Abnormal hip bone morphology
7421	VDR	HP:0000951	Abnormality of the skin
7421	VDR	HP:0000944	Abnormal metaphysis morphology
7421	VDR	HP:0000286	Epicanthus
7421	VDR	HP:0001596	Alopecia
7421	VDR	HP:0031415	High serum calcitriol
7421	VDR	HP:0000268	Dolichocephaly
7421	VDR	HP:0002857	Genu valgum
7421	VDR	HP:0001538	Protuberant abdomen
7421	VDR	HP:0001508	Failure to thrive
7421	VDR	HP:0001510	Growth delay
7421	VDR	HP:0002901	Hypocalcemia
7421	VDR	HP:0000365	Hearing impairment
7421	VDR	HP:0002982	Tibial bowing
7421	VDR	HP:0002980	Femoral bowing
7421	VDR	HP:0002979	Bowing of the legs
7421	VDR	HP:0002970	Genu varum
7421	VDR	HP:0000431	Wide nasal bridge
7421	VDR	HP:0005469	Flat occiput
7424	VEGFC	HP:0000034	Hydrocele testis
7424	VEGFC	HP:0000006	Autosomal dominant inheritance
7424	VEGFC	HP:0100797	Toenail dysplasia
7424	VEGFC	HP:0001004	Lymphedema
7424	VEGFC	HP:0001015	Prominent superficial veins
7424	VEGFC	HP:0100658	Cellulitis
7424	VEGFC	HP:0010741	Pedal edema
7424	VEGFC	HP:0011463	Childhood onset
7424	VEGFC	HP:0000962	Hyperkeratosis
7428	VHL	HP:0008629	Pulsatile tinnitus
7428	VHL	HP:0003745	Sporadic
7428	VHL	HP:0001297	Stroke
7428	VHL	HP:0025269	Panic attack
7428	VHL	HP:0001293	Cranial nerve compression
7428	VHL	HP:0002574	Episodic abdominal pain
7428	VHL	HP:0002516	Increased intracranial pressure
7428	VHL	HP:0033644	Elevated circulating erythropoietin concentration
7428	VHL	HP:0000096	Glomerular sclerosis
7428	VHL	HP:0000093	Proteinuria
7428	VHL	HP:0002664	Neoplasm
7428	VHL	HP:0001342	Cerebral hemorrhage
7428	VHL	HP:0000007	Autosomal recessive inheritance
7428	VHL	HP:0002668	Paraganglioma
7428	VHL	HP:0001337	Tremor
7428	VHL	HP:0000006	Autosomal dominant inheritance
7428	VHL	HP:0002666	Pheochromocytoma
7428	VHL	HP:0002641	Peripheral thrombosis
7428	VHL	HP:0002640	Hypertension associated with pheochromocytoma
7428	VHL	HP:0002619	Varicose veins
7428	VHL	HP:0002615	Hypotension
7428	VHL	HP:0031284	Flushing
7428	VHL	HP:0031207	Hepatic hemangioma
7428	VHL	HP:0002018	Nausea
7428	VHL	HP:0002027	Abdominal pain
7428	VHL	HP:0003334	Elevated circulating catecholamine level
7428	VHL	HP:0003345	Elevated urinary norepinephrine
7428	VHL	HP:0005954	Pulmonary capillary hemangiomatosis
7428	VHL	HP:0002092	Pulmonary arterial hypertension
7428	VHL	HP:0011703	Sinus tachycardia
7428	VHL	HP:0003484	Upper limb muscle weakness
7428	VHL	HP:0003418	Back pain
7428	VHL	HP:0010532	Paroxysmal vertigo
7428	VHL	HP:0008261	Pancreatic islet cell adenoma
7428	VHL	HP:0003593	Infantile onset
7428	VHL	HP:0003574	Positive regitine blocking test
7428	VHL	HP:0003528	Elevated calcitonin
7428	VHL	HP:0009711	Retinal capillary hemangioma
7428	VHL	HP:0009713	Spinal hemangioblastoma
7428	VHL	HP:0009715	Papillary cystadenoma of the epididymis
7428	VHL	HP:0100749	Chest pain
7428	VHL	HP:0011979	Elevated urinary dopamine
7428	VHL	HP:0011976	Elevated urinary catecholamines
7428	VHL	HP:0001050	Plethora
7428	VHL	HP:0001069	Episodic hyperhidrosis
7428	VHL	HP:0001028	Hemangioma
7428	VHL	HP:0002321	Vertigo
7428	VHL	HP:0002315	Headache
7428	VHL	HP:0002331	Recurrent paroxysmal headache
7428	VHL	HP:0001095	Hypertensive retinopathy
7428	VHL	HP:0001085	Papilledema
7428	VHL	HP:0009763	Limb pain
7428	VHL	HP:0003639	Elevated urinary epinephrine
7428	VHL	HP:0003621	Juvenile onset
7428	VHL	HP:0005584	Renal cell carcinoma
7428	VHL	HP:0005562	Multiple renal cysts
7428	VHL	HP:0006880	Cerebellar hemangioblastoma
7428	VHL	HP:0001962	Palpitations
7428	VHL	HP:0001920	Renal artery stenosis
7428	VHL	HP:0001900	Increased hemoglobin
7428	VHL	HP:0001901	Polycythemia
7428	VHL	HP:0009053	Distal lower limb muscle weakness
7428	VHL	HP:0003072	Hypercalcemia
7428	VHL	HP:0000739	Anxiety
7428	VHL	HP:0000740	Episodic paroxysmal anxiety
7428	VHL	HP:0011463	Childhood onset
7428	VHL	HP:0011462	Young adult onset
7428	VHL	HP:0000790	Hematuria
7428	VHL	HP:0000875	Episodic hypertension
7428	VHL	HP:0012819	Myocarditis
7428	VHL	HP:0000822	Hypertension
7428	VHL	HP:0040049	Macular edema
7428	VHL	HP:0000980	Pallor
7428	VHL	HP:0000975	Hyperhidrosis
7428	VHL	HP:0000957	Cafe-au-lait spot
7428	VHL	HP:0011675	Arrhythmia
7428	VHL	HP:0012222	Arachnoid hemangiomatosis
7428	VHL	HP:0002894	Neoplasm of the pancreas
7428	VHL	HP:0002864	Paraganglioma of head and neck
7428	VHL	HP:0001508	Failure to thrive
7428	VHL	HP:0012378	Fatigue
7428	VHL	HP:0001605	Vocal cord paralysis
7428	VHL	HP:0001618	Dysphonia
7428	VHL	HP:0005162	Abnormal left ventricular function
7428	VHL	HP:0000360	Tinnitus
7428	VHL	HP:0001649	Tachycardia
7428	VHL	HP:0001658	Myocardial infarction
7428	VHL	HP:0001635	Congestive heart failure
7428	VHL	HP:0001638	Cardiomyopathy
7428	VHL	HP:0000407	Sensorineural hearing impairment
7428	VHL	HP:0001737	Pancreatic cysts
7428	VHL	HP:0000405	Conductive hearing impairment
7428	VHL	HP:0000478	Abnormality of the eye
7428	VHL	HP:0006748	Adrenal pheochromocytoma
7428	VHL	HP:0006737	Extraadrenal pheochromocytoma
7428	VHL	HP:0030405	Pancreatic endocrine tumor
7428	VHL	HP:0030424	Epididymal cyst
7428	VHL	HP:0000519	Developmental cataract
7428	VHL	HP:0000526	Aniridia
7428	VHL	HP:0001824	Weight loss
7428	VHL	HP:0000572	Visual loss
7428	VHL	HP:0001899	Increased hematocrit
7428	VHL	HP:0030393	Endolymphatic sac tumor
7428	VHL	HP:0001898	Increased red blood cell mass
7428	VHL	HP:0000541	Retinal detachment
7431	VIM	HP:0001115	Posterior polar cataract
7431	VIM	HP:0000006	Autosomal dominant inheritance
7431	VIM	HP:0007657	Diffuse nuclear cataract
7431	VIM	HP:0003577	Congenital onset
7431	VIM	HP:0010693	Pulverulent cataract
7436	VLDLR	HP:0002465	Poor speech
7436	VLDLR	HP:0009878	Cerebellar ataxia associated with quadrupedal gait
7436	VLDLR	HP:0009879	Simplified gyral pattern
7436	VLDLR	HP:0001290	Generalized hypotonia
7436	VLDLR	HP:0001272	Cerebellar atrophy
7436	VLDLR	HP:0001288	Gait disturbance
7436	VLDLR	HP:0001250	Seizure
7436	VLDLR	HP:0001252	Hypotonia
7436	VLDLR	HP:0001251	Ataxia
7436	VLDLR	HP:0001249	Intellectual disability
7436	VLDLR	HP:0001260	Dysarthria
7436	VLDLR	HP:0001263	Global developmental delay
7436	VLDLR	HP:0001347	Hyperreflexia
7436	VLDLR	HP:0000007	Autosomal recessive inheritance
7436	VLDLR	HP:0001310	Dysmetria
7436	VLDLR	HP:0001302	Pachygyria
7436	VLDLR	HP:0001321	Cerebellar hypoplasia
7436	VLDLR	HP:0002080	Intention tremor
7436	VLDLR	HP:0002066	Gait ataxia
7436	VLDLR	HP:0002078	Truncal ataxia
7436	VLDLR	HP:0002075	Dysdiadochokinesis
7436	VLDLR	HP:0002136	Broad-based gait
7436	VLDLR	HP:0003593	Infantile onset
7436	VLDLR	HP:0003577	Congenital onset
7436	VLDLR	HP:0007068	Inferior cerebellar vermis hypoplasia
7436	VLDLR	HP:0002395	Lower limb hyperreflexia
7436	VLDLR	HP:0002365	Hypoplasia of the brainstem
7436	VLDLR	HP:0003680	Nonprogressive
7436	VLDLR	HP:0000640	Gaze-evoked nystagmus
7436	VLDLR	HP:0004322	Short stature
7436	VLDLR	HP:0031936	Delayed ability to walk
7436	VLDLR	HP:0100021	Cerebral palsy
7436	VLDLR	HP:0100022	Abnormality of movement
7436	VLDLR	HP:0000750	Delayed speech and language development
7436	VLDLR	HP:0003202	Skeletal muscle atrophy
7436	VLDLR	HP:0000486	Strabismus
7436	VLDLR	HP:0000478	Abnormality of the eye
7436	VLDLR	HP:0001763	Pes planus
7436	VLDLR	HP:0000518	Cataract
7436	VLDLR	HP:0000504	Abnormality of vision
7439	BEST1	HP:0001139	Choroideremia
7439	BEST1	HP:0001123	Visual field defect
7439	BEST1	HP:0001249	Intellectual disability
7439	BEST1	HP:0008736	Hypoplasia of penis
7439	BEST1	HP:0012045	Retinal flecks
7439	BEST1	HP:0001347	Hyperreflexia
7439	BEST1	HP:0000035	Abnormal testis morphology
7439	BEST1	HP:0000007	Autosomal recessive inheritance
7439	BEST1	HP:0000006	Autosomal dominant inheritance
7439	BEST1	HP:0000135	Hypogonadism
7439	BEST1	HP:0007675	Progressive night blindness
7439	BEST1	HP:0007677	Vitelliform-like macular lesions
7439	BEST1	HP:0007661	Abnormality of chorioretinal pigmentation
7439	BEST1	HP:0007663	Reduced visual acuity
7439	BEST1	HP:0007641	Dyschromatopsia
7439	BEST1	HP:0005978	Type II diabetes mellitus
7439	BEST1	HP:0010693	Pulverulent cataract
7439	BEST1	HP:0008499	High hypermetropia
7439	BEST1	HP:0000639	Nystagmus
7439	BEST1	HP:0000648	Optic atrophy
7439	BEST1	HP:0000618	Blindness
7439	BEST1	HP:0000613	Photophobia
7439	BEST1	HP:0000610	Abnormal choroid morphology
7439	BEST1	HP:0000602	Ophthalmoplegia
7439	BEST1	HP:0000662	Nyctalopia
7439	BEST1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
7439	BEST1	HP:0030666	Retinal neovascularization
7439	BEST1	HP:0000842	Hyperinsulinemia
7439	BEST1	HP:0030856	Posterior staphyloma
7439	BEST1	HP:0000987	Atypical scarring of skin
7439	BEST1	HP:0008043	Retinal arteriolar constriction
7439	BEST1	HP:0008046	Abnormal retinal vascular morphology
7439	BEST1	HP:0008028	Cystoid macular degeneration
7439	BEST1	HP:0007722	Retinal pigment epithelial atrophy
7439	BEST1	HP:0007703	Abnormality of retinal pigmentation
7439	BEST1	HP:0007754	Macular dystrophy
7439	BEST1	HP:0007730	Iris hypopigmentation
7439	BEST1	HP:0001513	Obesity
7439	BEST1	HP:0007843	Attenuation of retinal blood vessels
7439	BEST1	HP:0031526	Subretinal fluid
7439	BEST1	HP:0007899	Retinal nonattachment
7439	BEST1	HP:0007902	Vitreous hemorrhage
7439	BEST1	HP:0007985	Retinal arteriolar occlusion
7439	BEST1	HP:0000407	Sensorineural hearing impairment
7439	BEST1	HP:0000405	Conductive hearing impairment
7439	BEST1	HP:0000486	Strabismus
7439	BEST1	HP:0000482	Microcornea
7439	BEST1	HP:0000478	Abnormality of the eye
7439	BEST1	HP:0000463	Anteverted nares
7439	BEST1	HP:0000431	Wide nasal bridge
7439	BEST1	HP:0012508	Metamorphopsia
7439	BEST1	HP:0000518	Cataract
7439	BEST1	HP:0000519	Developmental cataract
7439	BEST1	HP:0000510	Rod-cone dystrophy
7439	BEST1	HP:0000512	Abnormal electroretinogram
7439	BEST1	HP:0000505	Visual impairment
7439	BEST1	HP:0000504	Abnormality of vision
7439	BEST1	HP:0000501	Glaucoma
7439	BEST1	HP:0000580	Pigmentary retinopathy
7439	BEST1	HP:0000563	Keratoconus
7439	BEST1	HP:0000568	Microphthalmia
7439	BEST1	HP:0000541	Retinal detachment
7439	BEST1	HP:0000540	Hypermetropia
7439	BEST1	HP:0000551	Color vision defect
7439	BEST1	HP:0000543	Optic disc pallor
7443	VRK1	HP:0007269	Spinal muscular atrophy
7443	VRK1	HP:0001270	Motor delay
7443	VRK1	HP:0001256	Intellectual disability, mild
7443	VRK1	HP:0001250	Seizure
7443	VRK1	HP:0001252	Hypotonia
7443	VRK1	HP:0001251	Ataxia
7443	VRK1	HP:0001249	Intellectual disability
7443	VRK1	HP:0001265	Hyporeflexia
7443	VRK1	HP:0001263	Global developmental delay
7443	VRK1	HP:0001257	Spasticity
7443	VRK1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
7443	VRK1	HP:0001348	Brisk reflexes
7443	VRK1	HP:0001347	Hyperreflexia
7443	VRK1	HP:0008872	Feeding difficulties in infancy
7443	VRK1	HP:0033725	Thin corpus callosum
7443	VRK1	HP:0001324	Muscle weakness
7443	VRK1	HP:0000007	Autosomal recessive inheritance
7443	VRK1	HP:0001308	Tongue fasciculations
7443	VRK1	HP:0001321	Cerebellar hypoplasia
7443	VRK1	HP:0012110	Hypoplasia of the pons
7443	VRK1	HP:0002033	Poor suck
7443	VRK1	HP:0002015	Dysphagia
7443	VRK1	HP:0002093	Respiratory insufficiency
7443	VRK1	HP:0002070	Limb ataxia
7443	VRK1	HP:0003477	Peripheral axonal neuropathy
7443	VRK1	HP:0002120	Cerebral cortical atrophy
7443	VRK1	HP:0003445	EMG: neuropathic changes
7443	VRK1	HP:0003577	Congenital onset
7443	VRK1	HP:0004886	Congenital laryngeal stridor
7443	VRK1	HP:0004878	Intercostal muscle weakness
7443	VRK1	HP:0200147	Neuronal loss in basal ganglia
7443	VRK1	HP:0002280	Enlarged cisterna magna
7443	VRK1	HP:0011968	Feeding difficulties
7443	VRK1	HP:0002380	Fasciculations
7443	VRK1	HP:0002398	Degeneration of anterior horn cells
7443	VRK1	HP:0003693	Distal amyotrophy
7443	VRK1	HP:0002360	Sleep disturbance
7443	VRK1	HP:0002378	Hand tremor
7443	VRK1	HP:0003676	Progressive
7443	VRK1	HP:0002350	Cerebellar cyst
7443	VRK1	HP:0007141	Sensorimotor neuropathy
7443	VRK1	HP:0007108	Demyelinating peripheral neuropathy
7443	VRK1	HP:0006850	Hypoplasia of the ventral pons
7443	VRK1	HP:0000639	Nystagmus
7443	VRK1	HP:0000648	Optic atrophy
7443	VRK1	HP:0006956	Lateral ventricle dilatation
7443	VRK1	HP:0006999	Basal ganglia gliosis
7443	VRK1	HP:0011461	Fetal onset
7443	VRK1	HP:0003202	Skeletal muscle atrophy
7443	VRK1	HP:0002803	Congenital contracture
7443	VRK1	HP:0002804	Arthrogryposis multiplex congenita
7443	VRK1	HP:0000253	Progressive microcephaly
7443	VRK1	HP:0000252	Microcephaly
7443	VRK1	HP:0002878	Respiratory failure
7443	VRK1	HP:0001508	Failure to thrive
7443	VRK1	HP:0000486	Strabismus
7443	VRK1	HP:0001760	Abnormal foot morphology
7443	VRK1	HP:0001762	Talipes equinovarus
7443	VRK1	HP:0000529	Progressive visual loss
7443	VRK1	HP:0000565	Esotropia
7450	VWF	HP:0003828	Variable expressivity
7450	VWF	HP:0003829	Typified by incomplete penetrance
7450	VWF	HP:0000007	Autosomal recessive inheritance
7450	VWF	HP:0000006	Autosomal dominant inheritance
7450	VWF	HP:0012147	Reduced quantity of Von Willebrand factor
7450	VWF	HP:0006298	Prolonged bleeding after dental extraction
7450	VWF	HP:0000132	Menorrhagia
7450	VWF	HP:0002239	Gastrointestinal hemorrhage
7450	VWF	HP:0003540	Impaired platelet aggregation
7450	VWF	HP:0008330	Reduced von Willebrand factor activity
7450	VWF	HP:0004846	Prolonged bleeding after surgery
7450	VWF	HP:0005542	Prolonged whole-blood clotting time
7450	VWF	HP:0001934	Persistent bleeding after trauma
7450	VWF	HP:0003010	Prolonged bleeding time
7450	VWF	HP:0003125	Reduced factor VIII activity
7450	VWF	HP:0000979	Purpura
7450	VWF	HP:0000978	Bruising susceptibility
7450	VWF	HP:0000967	Petechiae
7450	VWF	HP:0005261	Joint hemorrhage
7450	VWF	HP:0001650	Aortic valve stenosis
7450	VWF	HP:0001634	Mitral valve prolapse
7450	VWF	HP:0000471	Gastrointestinal angiodysplasia
7450	VWF	HP:0000421	Epistaxis
7450	VWF	HP:0001892	Abnormal bleeding
7450	VWF	HP:0001873	Thrombocytopenia
7453	WARS1	HP:0001265	Hyporeflexia
7453	WARS1	HP:0000006	Autosomal dominant inheritance
7453	WARS1	HP:0008959	Distal upper limb muscle weakness
7453	WARS1	HP:0008944	Distal lower limb amyotrophy
7453	WARS1	HP:0003438	Absent Achilles reflex
7453	WARS1	HP:0007002	Motor axonal neuropathy
7453	WARS1	HP:0002355	Difficulty walking
7453	WARS1	HP:0003677	Slowly progressive
7453	WARS1	HP:0007149	Distal upper limb amyotrophy
7453	WARS1	HP:0003621	Juvenile onset
7453	WARS1	HP:0006844	Absent patellar reflexes
7453	WARS1	HP:0009053	Distal lower limb muscle weakness
7453	WARS1	HP:0001761	Pes cavus
7454	WAS	HP:0002488	Acute leukemia
7454	WAS	HP:0100806	Sepsis
7454	WAS	HP:0100820	Glomerulopathy
7454	WAS	HP:0001287	Meningitis
7454	WAS	HP:0002573	Hematochezia
7454	WAS	HP:0007420	Spontaneous hematomas
7454	WAS	HP:0033607	Bone marrow arrest at the promyelocytic stage
7454	WAS	HP:0001369	Arthritis
7454	WAS	HP:0002664	Neoplasm
7454	WAS	HP:0001328	Specific learning disability
7454	WAS	HP:0002665	Lymphoma
7454	WAS	HP:0002633	Vasculitis
7454	WAS	HP:0012178	Reduced natural killer cell activity
7454	WAS	HP:0000140	Abnormality of the menstrual cycle
7454	WAS	HP:0002783	Recurrent lower respiratory tract infections
7454	WAS	HP:0002788	Recurrent upper respiratory tract infections
7454	WAS	HP:0000112	Nephropathy
7454	WAS	HP:0001419	X-linked recessive inheritance
7454	WAS	HP:0002718	Recurrent bacterial infections
7454	WAS	HP:0002721	Immunodeficiency
7454	WAS	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
7454	WAS	HP:0002037	Inflammation of the large intestine
7454	WAS	HP:0002028	Chronic diarrhea
7454	WAS	HP:0002014	Diarrhea
7454	WAS	HP:0002094	Dyspnea
7454	WAS	HP:0002170	Intracranial hemorrhage
7454	WAS	HP:0033222	Decreased CD4:CD8 ratio
7454	WAS	HP:0011875	Abnormal platelet morphology
7454	WAS	HP:0011869	Abnormal platelet function
7454	WAS	HP:0003593	Infantile onset
7454	WAS	HP:0003577	Congenital onset
7454	WAS	HP:0002249	Melena
7454	WAS	HP:0002248	Hematemesis
7454	WAS	HP:0004854	Intermittent thrombocytopenia
7454	WAS	HP:0002205	Recurrent respiratory infections
7454	WAS	HP:0100774	Hyperostosis
7454	WAS	HP:0100749	Chest pain
7454	WAS	HP:0011944	Small vessel vasculitis
7454	WAS	HP:0001025	Urticaria
7454	WAS	HP:0009830	Peripheral neuropathy
7454	WAS	HP:0200042	Skin ulcer
7454	WAS	HP:0005537	Decreased mean platelet volume
7454	WAS	HP:0005523	Lymphoproliferative disorder
7454	WAS	HP:0005558	Chronic leukemia
7454	WAS	HP:0001945	Fever
7454	WAS	HP:0001935	Microcytic anemia
7454	WAS	HP:0001903	Anemia
7454	WAS	HP:0001905	Congenital thrombocytopenia
7454	WAS	HP:0001983	Reduced lymphocyte surface expression of CD43
7454	WAS	HP:0006946	Recurrent meningitis
7454	WAS	HP:0003011	Abnormality of the musculature
7454	WAS	HP:0003010	Prolonged bleeding time
7454	WAS	HP:0000778	Hypoplasia of the thymus
7454	WAS	HP:0003212	Increased circulating IgE level
7454	WAS	HP:0003261	Increased circulating IgA level
7454	WAS	HP:0000979	Purpura
7454	WAS	HP:0000978	Bruising susceptibility
7454	WAS	HP:0100279	Ulcerative colitis
7454	WAS	HP:0000964	Eczema
7454	WAS	HP:0000967	Petechiae
7454	WAS	HP:0040184	Oral bleeding
7454	WAS	HP:0011675	Arrhythmia
7454	WAS	HP:0000246	Sinusitis
7454	WAS	HP:0000225	Gingival bleeding
7454	WAS	HP:0002850	Decreased circulating total IgM
7454	WAS	HP:0002848	Decreased specific anti-polysaccharide antibody level
7454	WAS	HP:0006510	Chronic pulmonary obstruction
7454	WAS	HP:0012378	Fatigue
7454	WAS	HP:0011029	Internal hemorrhage
7454	WAS	HP:0000389	Chronic otitis media
7454	WAS	HP:0000388	Otitis media
7454	WAS	HP:0005261	Joint hemorrhage
7454	WAS	HP:0006532	Recurrent pneumonia
7454	WAS	HP:0006535	Recurrent intrapulmonary hemorrhage
7454	WAS	HP:0012312	Monocytopenia
7454	WAS	HP:0001645	Sudden cardiac death
7454	WAS	HP:0002960	Autoimmunity
7454	WAS	HP:0002971	Absent microvilli on the surface of peripheral blood lymphocytes
7454	WAS	HP:0002963	Abnormal delayed hypersensitivity skin test
7454	WAS	HP:0000498	Blepharitis
7454	WAS	HP:0005353	Recurrent herpes
7454	WAS	HP:0005310	Large vessel vasculitis
7454	WAS	HP:0000403	Recurrent otitis media
7454	WAS	HP:0000491	Keratitis
7454	WAS	HP:0011108	Recurrent sinusitis
7454	WAS	HP:0000421	Epistaxis
7454	WAS	HP:0005407	Decreased proportion of CD4-positive helper T cells
7454	WAS	HP:0005415	Decreased proportion of CD8-positive T cells
7454	WAS	HP:0000509	Conjunctivitis
7454	WAS	HP:0001891	Iron deficiency anemia
7454	WAS	HP:0001890	Autoimmune hemolytic anemia
7454	WAS	HP:0001888	Lymphopenia
7454	WAS	HP:0001880	Eosinophilia
7454	WAS	HP:0001878	Hemolytic anemia
7454	WAS	HP:0001879	Abnormal eosinophil morphology
7454	WAS	HP:0001873	Thrombocytopenia
7454	WAS	HP:0001875	Neutropenia
7456	WIPF1	HP:0002488	Acute leukemia
7456	WIPF1	HP:0100806	Sepsis
7456	WIPF1	HP:0100820	Glomerulopathy
7456	WIPF1	HP:0001287	Meningitis
7456	WIPF1	HP:0002573	Hematochezia
7456	WIPF1	HP:0007420	Spontaneous hematomas
7456	WIPF1	HP:0001369	Arthritis
7456	WIPF1	HP:0002664	Neoplasm
7456	WIPF1	HP:0001328	Specific learning disability
7456	WIPF1	HP:0000007	Autosomal recessive inheritance
7456	WIPF1	HP:0002665	Lymphoma
7456	WIPF1	HP:0002633	Vasculitis
7456	WIPF1	HP:0012178	Reduced natural killer cell activity
7456	WIPF1	HP:0000140	Abnormality of the menstrual cycle
7456	WIPF1	HP:0000112	Nephropathy
7456	WIPF1	HP:0002719	Recurrent infections
7456	WIPF1	HP:0002721	Immunodeficiency
7456	WIPF1	HP:0002037	Inflammation of the large intestine
7456	WIPF1	HP:0002028	Chronic diarrhea
7456	WIPF1	HP:0002094	Dyspnea
7456	WIPF1	HP:0002170	Intracranial hemorrhage
7456	WIPF1	HP:0011875	Abnormal platelet morphology
7456	WIPF1	HP:0011869	Abnormal platelet function
7456	WIPF1	HP:0002248	Hematemesis
7456	WIPF1	HP:0002205	Recurrent respiratory infections
7456	WIPF1	HP:0100774	Hyperostosis
7456	WIPF1	HP:0100749	Chest pain
7456	WIPF1	HP:0001025	Urticaria
7456	WIPF1	HP:0009830	Peripheral neuropathy
7456	WIPF1	HP:0200042	Skin ulcer
7456	WIPF1	HP:0005558	Chronic leukemia
7456	WIPF1	HP:0001945	Fever
7456	WIPF1	HP:0001935	Microcytic anemia
7456	WIPF1	HP:0001903	Anemia
7456	WIPF1	HP:0003010	Prolonged bleeding time
7456	WIPF1	HP:0000778	Hypoplasia of the thymus
7456	WIPF1	HP:0000979	Purpura
7456	WIPF1	HP:0000978	Bruising susceptibility
7456	WIPF1	HP:0000964	Eczema
7456	WIPF1	HP:0000967	Petechiae
7456	WIPF1	HP:0011675	Arrhythmia
7456	WIPF1	HP:0000246	Sinusitis
7456	WIPF1	HP:0000225	Gingival bleeding
7456	WIPF1	HP:0006510	Chronic pulmonary obstruction
7456	WIPF1	HP:0012378	Fatigue
7456	WIPF1	HP:0011029	Internal hemorrhage
7456	WIPF1	HP:0000389	Chronic otitis media
7456	WIPF1	HP:0000388	Otitis media
7456	WIPF1	HP:0006535	Recurrent intrapulmonary hemorrhage
7456	WIPF1	HP:0001645	Sudden cardiac death
7456	WIPF1	HP:0002960	Autoimmunity
7456	WIPF1	HP:0000498	Blepharitis
7456	WIPF1	HP:0000491	Keratitis
7456	WIPF1	HP:0030253	Defective T cell proliferation
7456	WIPF1	HP:0000421	Epistaxis
7456	WIPF1	HP:0005415	Decreased proportion of CD8-positive T cells
7456	WIPF1	HP:0000509	Conjunctivitis
7456	WIPF1	HP:0001888	Lymphopenia
7456	WIPF1	HP:0001878	Hemolytic anemia
7456	WIPF1	HP:0001879	Abnormal eosinophil morphology
7456	WIPF1	HP:0001873	Thrombocytopenia
7456	WIPF1	HP:0001875	Neutropenia
7458	EIF4H	HP:0001181	Adducted thumb
7458	EIF4H	HP:0001136	Retinal arteriolar tortuosity
7458	EIF4H	HP:0010880	Increased nuchal translucency
7458	EIF4H	HP:0001297	Stroke
7458	EIF4H	HP:0100817	Renovascular hypertension
7458	EIF4H	HP:0001288	Gait disturbance
7458	EIF4H	HP:0001252	Hypotonia
7458	EIF4H	HP:0001251	Ataxia
7458	EIF4H	HP:0001249	Intellectual disability
7458	EIF4H	HP:0001260	Dysarthria
7458	EIF4H	HP:0001257	Spasticity
7458	EIF4H	HP:0001231	Abnormal fingernail morphology
7458	EIF4H	HP:0002575	Tracheoesophageal fistula
7458	EIF4H	HP:0008736	Hypoplasia of penis
7458	EIF4H	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
7458	EIF4H	HP:0008661	Urethral stenosis
7458	EIF4H	HP:0000089	Renal hypoplasia
7458	EIF4H	HP:0000083	Renal insufficiency
7458	EIF4H	HP:0000093	Proteinuria
7458	EIF4H	HP:0000076	Vesicoureteral reflux
7458	EIF4H	HP:0000075	Renal duplication
7458	EIF4H	HP:0000044	Hypogonadotropic hypogonadism
7458	EIF4H	HP:0001388	Joint laxity
7458	EIF4H	HP:0001387	Joint stiffness
7458	EIF4H	HP:0000023	Inguinal hernia
7458	EIF4H	HP:0000015	Bladder diverticulum
7458	EIF4H	HP:0000014	Abnormality of the bladder
7458	EIF4H	HP:0001347	Hyperreflexia
7458	EIF4H	HP:0001361	Nystagmus-induced head nodding
7458	EIF4H	HP:0000025	Functional abnormality of male internal genitalia
7458	EIF4H	HP:0000028	Cryptorchidism
7458	EIF4H	HP:0007495	Prematurely aged appearance
7458	EIF4H	HP:0007477	Abnormal dermatoglyphics
7458	EIF4H	HP:0000010	Recurrent urinary tract infections
7458	EIF4H	HP:0001337	Tremor
7458	EIF4H	HP:0001310	Dysmetria
7458	EIF4H	HP:0002637	Cerebral ischemia
7458	EIF4H	HP:0002650	Scoliosis
7458	EIF4H	HP:0002644	Abnormal pelvic girdle bone morphology
7458	EIF4H	HP:0002623	Overriding aorta
7458	EIF4H	HP:0000179	Thick lower lip vermilion
7458	EIF4H	HP:0000158	Macroglossia
7458	EIF4H	HP:0000154	Wide mouth
7458	EIF4H	HP:0000147	Polycystic ovaries
7458	EIF4H	HP:0000121	Nephrocalcinosis
7458	EIF4H	HP:0000125	Pelvic kidney
7458	EIF4H	HP:0002750	Delayed skeletal maturation
7458	EIF4H	HP:0002024	Malabsorption
7458	EIF4H	HP:0002020	Gastroesophageal reflux
7458	EIF4H	HP:0002019	Constipation
7458	EIF4H	HP:0002017	Nausea and vomiting
7458	EIF4H	HP:0002035	Rectal prolapse
7458	EIF4H	HP:0002027	Abdominal pain
7458	EIF4H	HP:0003312	Abnormal form of the vertebral bodies
7458	EIF4H	HP:0003307	Hyperlordosis
7458	EIF4H	HP:0005978	Type II diabetes mellitus
7458	EIF4H	HP:0100539	Periorbital edema
7458	EIF4H	HP:0100545	Arterial stenosis
7458	EIF4H	HP:0002071	Abnormality of extrapyramidal motor function
7458	EIF4H	HP:0002141	Gait imbalance
7458	EIF4H	HP:0002150	Hypercalciuria
7458	EIF4H	HP:0002120	Cerebral cortical atrophy
7458	EIF4H	HP:0003422	Vertebral segmentation defect
7458	EIF4H	HP:0002183	Phonophobia
7458	EIF4H	HP:0002167	Abnormality of speech or vocalization
7458	EIF4H	HP:0010526	Dysgraphia
7458	EIF4H	HP:0002253	Colonic diverticula
7458	EIF4H	HP:0002205	Recurrent respiratory infections
7458	EIF4H	HP:0100785	Insomnia
7458	EIF4H	HP:0010662	Abnormality of the diencephalon
7458	EIF4H	HP:0010669	Hypoplasia of the zygomatic bone
7458	EIF4H	HP:0007018	Attention deficit hyperactivity disorder
7458	EIF4H	HP:0001052	Nevus flammeus
7458	EIF4H	HP:0002376	Developmental regression
7458	EIF4H	HP:0200021	Down-sloping shoulders
7458	EIF4H	HP:0100659	Abnormal cerebral vascular morphology
7458	EIF4H	HP:0010807	Open bite
7458	EIF4H	HP:0100613	Death in early adulthood
7458	EIF4H	HP:0001081	Cholelithiasis
7458	EIF4H	HP:0008499	High hypermetropia
7458	EIF4H	HP:0010780	Hyperacusis
7458	EIF4H	HP:0002308	Chiari malformation
7458	EIF4H	HP:0004969	Peripheral pulmonary artery stenosis
7458	EIF4H	HP:0004209	Clinodactyly of the 5th finger
7458	EIF4H	HP:0004295	Abnormal gastric mucosa morphology
7458	EIF4H	HP:0005562	Multiple renal cysts
7458	EIF4H	HP:0001969	Abnormal tubulointerstitial morphology
7458	EIF4H	HP:0000635	Blue irides
7458	EIF4H	HP:0000632	Lacrimation abnormality
7458	EIF4H	HP:0000627	Posterior embryotoxon
7458	EIF4H	HP:0000682	Abnormal dental enamel morphology
7458	EIF4H	HP:0000691	Microdontia
7458	EIF4H	HP:0000689	Dental malocclusion
7458	EIF4H	HP:0000670	Carious teeth
7458	EIF4H	HP:0012639	Abnormal nervous system morphology
7458	EIF4H	HP:0000668	Hypodontia
7458	EIF4H	HP:0004322	Short stature
7458	EIF4H	HP:0004306	Abnormal endocardium morphology
7458	EIF4H	HP:0004305	Involuntary movements
7458	EIF4H	HP:0003072	Hypercalcemia
7458	EIF4H	HP:0004381	Supravalvular aortic stenosis
7458	EIF4H	HP:0004398	Peptic ulcer
7458	EIF4H	HP:0005692	Joint hyperflexibility
7458	EIF4H	HP:0003028	Abnormality of the ankle
7458	EIF4H	HP:0100025	Overfriendliness
7458	EIF4H	HP:0000767	Pectus excavatum
7458	EIF4H	HP:0000739	Anxiety
7458	EIF4H	HP:0000716	Depression
7458	EIF4H	HP:0000717	Autism
7458	EIF4H	HP:0000722	Compulsive behaviors
7458	EIF4H	HP:0000787	Nephrolithiasis
7458	EIF4H	HP:0003119	Abnormal circulating lipid concentration
7458	EIF4H	HP:0004428	Elfin facies
7458	EIF4H	HP:0003198	Myopathy
7458	EIF4H	HP:0003196	Short nose
7458	EIF4H	HP:0000826	Precocious puberty
7458	EIF4H	HP:0000822	Hypertension
7458	EIF4H	HP:0000821	Hypothyroidism
7458	EIF4H	HP:0003236	Elevated circulating creatine kinase concentration
7458	EIF4H	HP:0003298	Spina bifida occulta
7458	EIF4H	HP:0000960	Sacral dimple
7458	EIF4H	HP:0000939	Osteoporosis
7458	EIF4H	HP:0000938	Osteopenia
7458	EIF4H	HP:0100240	Synostosis of joints
7458	EIF4H	HP:0008053	Aplasia/Hypoplasia of the iris
7458	EIF4H	HP:0007720	Flat cornea
7458	EIF4H	HP:0000286	Epicanthus
7458	EIF4H	HP:0000280	Coarse facial features
7458	EIF4H	HP:0000275	Narrow face
7458	EIF4H	HP:0005113	Aortic arch aneurysm
7458	EIF4H	HP:0002829	Arthralgia
7458	EIF4H	HP:0002808	Kyphosis
7458	EIF4H	HP:0000252	Microcephaly
7458	EIF4H	HP:0001582	Redundant skin
7458	EIF4H	HP:0000212	Gingival overgrowth
7458	EIF4H	HP:0000232	Everted lower lip vermilion
7458	EIF4H	HP:0001531	Failure to thrive in infancy
7458	EIF4H	HP:0002857	Genu valgum
7458	EIF4H	HP:0001537	Umbilical hernia
7458	EIF4H	HP:0001513	Obesity
7458	EIF4H	HP:0000389	Chronic otitis media
7458	EIF4H	HP:0001609	Hoarse voice
7458	EIF4H	HP:0001608	Abnormality of the voice
7458	EIF4H	HP:0001618	Dysphonia
7458	EIF4H	HP:0006482	Abnormality of dental morphology
7458	EIF4H	HP:0000368	Low-set, posteriorly rotated ears
7458	EIF4H	HP:0001671	Abnormal cardiac septum morphology
7458	EIF4H	HP:0000343	Long philtrum
7458	EIF4H	HP:0011001	Increased bone mineral density
7458	EIF4H	HP:0000337	Broad forehead
7458	EIF4H	HP:0002999	Patellar dislocation
7458	EIF4H	HP:0000348	High forehead
7458	EIF4H	HP:0000347	Micrognathia
7458	EIF4H	HP:0001647	Bicuspid aortic valve
7458	EIF4H	HP:0001643	Patent ductus arteriosus
7458	EIF4H	HP:0001642	Pulmonic stenosis
7458	EIF4H	HP:0001645	Sudden cardiac death
7458	EIF4H	HP:0002974	Radioulnar synostosis
7458	EIF4H	HP:0001658	Myocardial infarction
7458	EIF4H	HP:0001653	Mitral regurgitation
7458	EIF4H	HP:0001629	Ventricular septal defect
7458	EIF4H	HP:0001626	Abnormality of the cardiovascular system
7458	EIF4H	HP:0001640	Cardiomegaly
7458	EIF4H	HP:0001639	Hypertrophic cardiomyopathy
7458	EIF4H	HP:0001636	Tetralogy of Fallot
7458	EIF4H	HP:0001635	Congestive heart failure
7458	EIF4H	HP:0000307	Pointed chin
7458	EIF4H	HP:0001631	Atrial septal defect
7458	EIF4H	HP:0001634	Mitral valve prolapse
7458	EIF4H	HP:0007957	Corneal opacity
7458	EIF4H	HP:0005344	Abnormal carotid artery morphology
7458	EIF4H	HP:0000407	Sensorineural hearing impairment
7458	EIF4H	HP:0000400	Macrotia
7458	EIF4H	HP:0000486	Strabismus
7458	EIF4H	HP:0000485	Megalocornea
7458	EIF4H	HP:0000464	Abnormality of the neck
7458	EIF4H	HP:0012433	Abnormal social behavior
7458	EIF4H	HP:0001763	Pes planus
7458	EIF4H	HP:0000411	Protruding ear
7458	EIF4H	HP:0000431	Wide nasal bridge
7458	EIF4H	HP:0000518	Cataract
7458	EIF4H	HP:0001822	Hallux valgus
7458	EIF4H	HP:0000505	Visual impairment
7458	EIF4H	HP:0000501	Glaucoma
7458	EIF4H	HP:0001800	Hypoplastic toenails
7458	EIF4H	HP:0000581	Blepharophimosis
7458	EIF4H	HP:0000545	Myopia
7461	CLIP2	HP:0001181	Adducted thumb
7461	CLIP2	HP:0001136	Retinal arteriolar tortuosity
7461	CLIP2	HP:0010880	Increased nuchal translucency
7461	CLIP2	HP:0001297	Stroke
7461	CLIP2	HP:0100817	Renovascular hypertension
7461	CLIP2	HP:0001288	Gait disturbance
7461	CLIP2	HP:0001252	Hypotonia
7461	CLIP2	HP:0001251	Ataxia
7461	CLIP2	HP:0001249	Intellectual disability
7461	CLIP2	HP:0001260	Dysarthria
7461	CLIP2	HP:0001257	Spasticity
7461	CLIP2	HP:0001231	Abnormal fingernail morphology
7461	CLIP2	HP:0002575	Tracheoesophageal fistula
7461	CLIP2	HP:0008736	Hypoplasia of penis
7461	CLIP2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
7461	CLIP2	HP:0008661	Urethral stenosis
7461	CLIP2	HP:0000089	Renal hypoplasia
7461	CLIP2	HP:0000083	Renal insufficiency
7461	CLIP2	HP:0000093	Proteinuria
7461	CLIP2	HP:0000076	Vesicoureteral reflux
7461	CLIP2	HP:0000075	Renal duplication
7461	CLIP2	HP:0000044	Hypogonadotropic hypogonadism
7461	CLIP2	HP:0001388	Joint laxity
7461	CLIP2	HP:0001387	Joint stiffness
7461	CLIP2	HP:0000023	Inguinal hernia
7461	CLIP2	HP:0000015	Bladder diverticulum
7461	CLIP2	HP:0000014	Abnormality of the bladder
7461	CLIP2	HP:0001347	Hyperreflexia
7461	CLIP2	HP:0001361	Nystagmus-induced head nodding
7461	CLIP2	HP:0000025	Functional abnormality of male internal genitalia
7461	CLIP2	HP:0000028	Cryptorchidism
7461	CLIP2	HP:0007495	Prematurely aged appearance
7461	CLIP2	HP:0007477	Abnormal dermatoglyphics
7461	CLIP2	HP:0000010	Recurrent urinary tract infections
7461	CLIP2	HP:0001337	Tremor
7461	CLIP2	HP:0001310	Dysmetria
7461	CLIP2	HP:0002637	Cerebral ischemia
7461	CLIP2	HP:0002650	Scoliosis
7461	CLIP2	HP:0002644	Abnormal pelvic girdle bone morphology
7461	CLIP2	HP:0002623	Overriding aorta
7461	CLIP2	HP:0000179	Thick lower lip vermilion
7461	CLIP2	HP:0000158	Macroglossia
7461	CLIP2	HP:0000154	Wide mouth
7461	CLIP2	HP:0000147	Polycystic ovaries
7461	CLIP2	HP:0000121	Nephrocalcinosis
7461	CLIP2	HP:0000125	Pelvic kidney
7461	CLIP2	HP:0002750	Delayed skeletal maturation
7461	CLIP2	HP:0002024	Malabsorption
7461	CLIP2	HP:0002020	Gastroesophageal reflux
7461	CLIP2	HP:0002019	Constipation
7461	CLIP2	HP:0002017	Nausea and vomiting
7461	CLIP2	HP:0002035	Rectal prolapse
7461	CLIP2	HP:0002027	Abdominal pain
7461	CLIP2	HP:0003312	Abnormal form of the vertebral bodies
7461	CLIP2	HP:0003307	Hyperlordosis
7461	CLIP2	HP:0005978	Type II diabetes mellitus
7461	CLIP2	HP:0100539	Periorbital edema
7461	CLIP2	HP:0100545	Arterial stenosis
7461	CLIP2	HP:0002071	Abnormality of extrapyramidal motor function
7461	CLIP2	HP:0002141	Gait imbalance
7461	CLIP2	HP:0002150	Hypercalciuria
7461	CLIP2	HP:0002120	Cerebral cortical atrophy
7461	CLIP2	HP:0003422	Vertebral segmentation defect
7461	CLIP2	HP:0002183	Phonophobia
7461	CLIP2	HP:0002167	Abnormality of speech or vocalization
7461	CLIP2	HP:0010526	Dysgraphia
7461	CLIP2	HP:0002253	Colonic diverticula
7461	CLIP2	HP:0002205	Recurrent respiratory infections
7461	CLIP2	HP:0100785	Insomnia
7461	CLIP2	HP:0010662	Abnormality of the diencephalon
7461	CLIP2	HP:0010669	Hypoplasia of the zygomatic bone
7461	CLIP2	HP:0007018	Attention deficit hyperactivity disorder
7461	CLIP2	HP:0001052	Nevus flammeus
7461	CLIP2	HP:0002376	Developmental regression
7461	CLIP2	HP:0200021	Down-sloping shoulders
7461	CLIP2	HP:0100659	Abnormal cerebral vascular morphology
7461	CLIP2	HP:0010807	Open bite
7461	CLIP2	HP:0100613	Death in early adulthood
7461	CLIP2	HP:0001081	Cholelithiasis
7461	CLIP2	HP:0008499	High hypermetropia
7461	CLIP2	HP:0010780	Hyperacusis
7461	CLIP2	HP:0002308	Chiari malformation
7461	CLIP2	HP:0004969	Peripheral pulmonary artery stenosis
7461	CLIP2	HP:0004209	Clinodactyly of the 5th finger
7461	CLIP2	HP:0004295	Abnormal gastric mucosa morphology
7461	CLIP2	HP:0005562	Multiple renal cysts
7461	CLIP2	HP:0001969	Abnormal tubulointerstitial morphology
7461	CLIP2	HP:0000635	Blue irides
7461	CLIP2	HP:0000632	Lacrimation abnormality
7461	CLIP2	HP:0000627	Posterior embryotoxon
7461	CLIP2	HP:0000682	Abnormal dental enamel morphology
7461	CLIP2	HP:0000691	Microdontia
7461	CLIP2	HP:0000689	Dental malocclusion
7461	CLIP2	HP:0000670	Carious teeth
7461	CLIP2	HP:0012639	Abnormal nervous system morphology
7461	CLIP2	HP:0000668	Hypodontia
7461	CLIP2	HP:0004322	Short stature
7461	CLIP2	HP:0004306	Abnormal endocardium morphology
7461	CLIP2	HP:0004305	Involuntary movements
7461	CLIP2	HP:0003072	Hypercalcemia
7461	CLIP2	HP:0004381	Supravalvular aortic stenosis
7461	CLIP2	HP:0004398	Peptic ulcer
7461	CLIP2	HP:0005692	Joint hyperflexibility
7461	CLIP2	HP:0003028	Abnormality of the ankle
7461	CLIP2	HP:0100025	Overfriendliness
7461	CLIP2	HP:0000767	Pectus excavatum
7461	CLIP2	HP:0000739	Anxiety
7461	CLIP2	HP:0000716	Depression
7461	CLIP2	HP:0000717	Autism
7461	CLIP2	HP:0000722	Compulsive behaviors
7461	CLIP2	HP:0000787	Nephrolithiasis
7461	CLIP2	HP:0003119	Abnormal circulating lipid concentration
7461	CLIP2	HP:0004428	Elfin facies
7461	CLIP2	HP:0003198	Myopathy
7461	CLIP2	HP:0003196	Short nose
7461	CLIP2	HP:0000826	Precocious puberty
7461	CLIP2	HP:0000822	Hypertension
7461	CLIP2	HP:0000821	Hypothyroidism
7461	CLIP2	HP:0003236	Elevated circulating creatine kinase concentration
7461	CLIP2	HP:0003298	Spina bifida occulta
7461	CLIP2	HP:0000960	Sacral dimple
7461	CLIP2	HP:0000939	Osteoporosis
7461	CLIP2	HP:0000938	Osteopenia
7461	CLIP2	HP:0100240	Synostosis of joints
7461	CLIP2	HP:0008053	Aplasia/Hypoplasia of the iris
7461	CLIP2	HP:0007720	Flat cornea
7461	CLIP2	HP:0000286	Epicanthus
7461	CLIP2	HP:0000280	Coarse facial features
7461	CLIP2	HP:0000275	Narrow face
7461	CLIP2	HP:0005113	Aortic arch aneurysm
7461	CLIP2	HP:0002829	Arthralgia
7461	CLIP2	HP:0002808	Kyphosis
7461	CLIP2	HP:0000252	Microcephaly
7461	CLIP2	HP:0001582	Redundant skin
7461	CLIP2	HP:0000212	Gingival overgrowth
7461	CLIP2	HP:0000232	Everted lower lip vermilion
7461	CLIP2	HP:0001531	Failure to thrive in infancy
7461	CLIP2	HP:0002857	Genu valgum
7461	CLIP2	HP:0001537	Umbilical hernia
7461	CLIP2	HP:0001513	Obesity
7461	CLIP2	HP:0000389	Chronic otitis media
7461	CLIP2	HP:0001609	Hoarse voice
7461	CLIP2	HP:0001608	Abnormality of the voice
7461	CLIP2	HP:0001618	Dysphonia
7461	CLIP2	HP:0006482	Abnormality of dental morphology
7461	CLIP2	HP:0000368	Low-set, posteriorly rotated ears
7461	CLIP2	HP:0001671	Abnormal cardiac septum morphology
7461	CLIP2	HP:0000343	Long philtrum
7461	CLIP2	HP:0011001	Increased bone mineral density
7461	CLIP2	HP:0000337	Broad forehead
7461	CLIP2	HP:0002999	Patellar dislocation
7461	CLIP2	HP:0000348	High forehead
7461	CLIP2	HP:0000347	Micrognathia
7461	CLIP2	HP:0001647	Bicuspid aortic valve
7461	CLIP2	HP:0001643	Patent ductus arteriosus
7461	CLIP2	HP:0001642	Pulmonic stenosis
7461	CLIP2	HP:0001645	Sudden cardiac death
7461	CLIP2	HP:0002974	Radioulnar synostosis
7461	CLIP2	HP:0001658	Myocardial infarction
7461	CLIP2	HP:0001653	Mitral regurgitation
7461	CLIP2	HP:0001629	Ventricular septal defect
7461	CLIP2	HP:0001626	Abnormality of the cardiovascular system
7461	CLIP2	HP:0001640	Cardiomegaly
7461	CLIP2	HP:0001639	Hypertrophic cardiomyopathy
7461	CLIP2	HP:0001636	Tetralogy of Fallot
7461	CLIP2	HP:0001635	Congestive heart failure
7461	CLIP2	HP:0000307	Pointed chin
7461	CLIP2	HP:0001631	Atrial septal defect
7461	CLIP2	HP:0001634	Mitral valve prolapse
7461	CLIP2	HP:0007957	Corneal opacity
7461	CLIP2	HP:0005344	Abnormal carotid artery morphology
7461	CLIP2	HP:0000407	Sensorineural hearing impairment
7461	CLIP2	HP:0000400	Macrotia
7461	CLIP2	HP:0000486	Strabismus
7461	CLIP2	HP:0000485	Megalocornea
7461	CLIP2	HP:0000464	Abnormality of the neck
7461	CLIP2	HP:0012433	Abnormal social behavior
7461	CLIP2	HP:0001763	Pes planus
7461	CLIP2	HP:0000411	Protruding ear
7461	CLIP2	HP:0000431	Wide nasal bridge
7461	CLIP2	HP:0000518	Cataract
7461	CLIP2	HP:0001822	Hallux valgus
7461	CLIP2	HP:0000505	Visual impairment
7461	CLIP2	HP:0000501	Glaucoma
7461	CLIP2	HP:0001800	Hypoplastic toenails
7461	CLIP2	HP:0000581	Blepharophimosis
7461	CLIP2	HP:0000545	Myopia
7466	WFS1	HP:0001141	Severely reduced visual acuity
7466	WFS1	HP:0010935	Abnormality of the upper urinary tract
7466	WFS1	HP:0008573	Low-frequency sensorineural hearing impairment
7466	WFS1	HP:0002401	Stroke-like episode
7466	WFS1	HP:0001250	Seizure
7466	WFS1	HP:0001251	Ataxia
7466	WFS1	HP:0002579	Gastrointestinal dysmotility
7466	WFS1	HP:0001249	Intellectual disability
7466	WFS1	HP:0001260	Dysarthria
7466	WFS1	HP:0002592	Gastric ulcer
7466	WFS1	HP:0000079	Abnormality of the urinary system
7466	WFS1	HP:0000072	Hydroureter
7466	WFS1	HP:0001387	Joint stiffness
7466	WFS1	HP:0000029	Testicular atrophy
7466	WFS1	HP:0000026	Male hypogonadism
7466	WFS1	HP:0008872	Feeding difficulties in infancy
7466	WFS1	HP:0006217	Limited mobility of proximal interphalangeal joint
7466	WFS1	HP:0008850	Severe postnatal growth retardation
7466	WFS1	HP:0000011	Neurogenic bladder
7466	WFS1	HP:0000010	Recurrent urinary tract infections
7466	WFS1	HP:0000007	Autosomal recessive inheritance
7466	WFS1	HP:0001337	Tremor
7466	WFS1	HP:0000006	Autosomal dominant inheritance
7466	WFS1	HP:0000135	Hypogonadism
7466	WFS1	HP:0007663	Reduced visual acuity
7466	WFS1	HP:0000126	Hydronephrosis
7466	WFS1	HP:0000112	Nephropathy
7466	WFS1	HP:0002024	Malabsorption
7466	WFS1	HP:0002019	Constipation
7466	WFS1	HP:0002015	Dysphagia
7466	WFS1	HP:0005978	Type II diabetes mellitus
7466	WFS1	HP:0002093	Respiratory insufficiency
7466	WFS1	HP:0002073	Progressive cerebellar ataxia
7466	WFS1	HP:0002059	Cerebral atrophy
7466	WFS1	HP:0100518	Dysuria
7466	WFS1	HP:0040270	Impaired glucose tolerance
7466	WFS1	HP:0008193	Primary gonadal insufficiency
7466	WFS1	HP:0003477	Peripheral axonal neuropathy
7466	WFS1	HP:0002120	Cerebral cortical atrophy
7466	WFS1	HP:0002239	Gastrointestinal hemorrhage
7466	WFS1	HP:0003584	Late onset
7466	WFS1	HP:0100753	Schizophrenia
7466	WFS1	HP:0002360	Sleep disturbance
7466	WFS1	HP:0002376	Developmental regression
7466	WFS1	HP:0008527	Congenital sensorineural hearing impairment
7466	WFS1	HP:0009830	Peripheral neuropathy
7466	WFS1	HP:0003621	Juvenile onset
7466	WFS1	HP:0031819	Increased waist to hip ratio
7466	WFS1	HP:0000639	Nystagmus
7466	WFS1	HP:0000648	Optic atrophy
7466	WFS1	HP:0001959	Polydipsia
7466	WFS1	HP:0001952	Glucose intolerance
7466	WFS1	HP:0001924	Sideroblastic anemia
7466	WFS1	HP:0000602	Ophthalmoplegia
7466	WFS1	HP:0001903	Anemia
7466	WFS1	HP:0030644	Blind-spot enlargment
7466	WFS1	HP:0100018	Nuclear cataract
7466	WFS1	HP:0100016	Abnormality of mesentery morphology
7466	WFS1	HP:0000738	Hallucinations
7466	WFS1	HP:0000739	Anxiety
7466	WFS1	HP:0000716	Depression
7466	WFS1	HP:0000717	Autism
7466	WFS1	HP:0000726	Dementia
7466	WFS1	HP:0000729	Autistic behavior
7466	WFS1	HP:0000709	Psychosis
7466	WFS1	HP:0000708	Atypical behavior
7466	WFS1	HP:0011463	Childhood onset
7466	WFS1	HP:0003198	Myopathy
7466	WFS1	HP:0000873	Diabetes insipidus
7466	WFS1	HP:0000855	Insulin resistance
7466	WFS1	HP:0000863	Central diabetes insipidus
7466	WFS1	HP:0000819	Diabetes mellitus
7466	WFS1	HP:0000821	Hypothyroidism
7466	WFS1	HP:0000823	Delayed puberty
7466	WFS1	HP:0002871	Central apnea
7466	WFS1	HP:0001510	Growth delay
7466	WFS1	HP:0000377	Abnormal pinna morphology
7466	WFS1	HP:0000365	Hearing impairment
7466	WFS1	HP:0012332	Abnormal autonomic nervous system physiology
7466	WFS1	HP:0001638	Cardiomyopathy
7466	WFS1	HP:0000408	Progressive sensorineural hearing impairment
7466	WFS1	HP:0000407	Sensorineural hearing impairment
7466	WFS1	HP:0001730	Progressive hearing impairment
7466	WFS1	HP:0000518	Cataract
7466	WFS1	HP:0000508	Ptosis
7466	WFS1	HP:0000501	Glaucoma
7466	WFS1	HP:0000580	Pigmentary retinopathy
7466	WFS1	HP:0001889	Megaloblastic anemia
7466	WFS1	HP:0000543	Optic disc pallor
7466	WFS1	HP:0001873	Thrombocytopenia
7467	-	HP:0001177	Preaxial hand polydactyly
7467	-	HP:0001171	Split hand
7467	-	HP:0009918	Ectopia pupillae
7467	-	HP:0010864	Intellectual disability, severe
7467	-	HP:0003745	Sporadic
7467	-	HP:0001290	Generalized hypotonia
7467	-	HP:0001274	Agenesis of corpus callosum
7467	-	HP:0001250	Seizure
7467	-	HP:0001263	Global developmental delay
7467	-	HP:0007385	Aplasia cutis congenita of scalp
7467	-	HP:0002553	Highly arched eyebrow
7467	-	HP:0001385	Hip dysplasia
7467	-	HP:0000047	Hypospadias
7467	-	HP:0000028	Cryptorchidism
7467	-	HP:0008850	Severe postnatal growth retardation
7467	-	HP:0001331	Absent septum pellucidum
7467	-	HP:0000006	Autosomal dominant inheritance
7467	-	HP:0002650	Scoliosis
7467	-	HP:0000188	Short upper lip
7467	-	HP:0000175	Cleft palate
7467	-	HP:0000151	Aplasia of the uterus
7467	-	HP:0000119	Abnormality of the genitourinary system
7467	-	HP:0002750	Delayed skeletal maturation
7467	-	HP:0002714	Downturned corners of mouth
7467	-	HP:0002721	Immunodeficiency
7467	-	HP:0002020	Gastroesophageal reflux
7467	-	HP:0002011	Morphological central nervous system abnormality
7467	-	HP:0003312	Abnormal form of the vertebral bodies
7467	-	HP:0002057	Prominent glabella
7467	-	HP:0002144	Tethered cord
7467	-	HP:0002119	Ventriculomegaly
7467	-	HP:0004794	Malrotation of small bowel
7467	-	HP:0002162	Low posterior hairline
7467	-	HP:0011863	Abnormal sternal ossification
7467	-	HP:0002389	Cavum septum pellucidum
7467	-	HP:0001028	Hemangioma
7467	-	HP:0002353	EEG abnormality
7467	-	HP:0001080	Biliary tract abnormality
7467	-	HP:0007109	Periventricular cysts
7467	-	HP:0009778	Short thumb
7467	-	HP:0000639	Nystagmus
7467	-	HP:0000612	Iris coloboma
7467	-	HP:0000668	Hypodontia
7467	-	HP:0004322	Short stature
7467	-	HP:0030680	Abnormality of cardiovascular system morphology
7467	-	HP:0009193	Pseudoepiphyses of the metacarpals
7467	-	HP:0010109	Short hallux
7467	-	HP:0003199	Decreased muscle mass
7467	-	HP:0000902	Rib fusion
7467	-	HP:0004484	Craniofacial asymmetry
7467	-	HP:0004467	Preauricular pit
7467	-	HP:0000826	Precocious puberty
7467	-	HP:0000954	Single transverse palmar crease
7467	-	HP:0000960	Sacral dimple
7467	-	HP:0000286	Epicanthus
7467	-	HP:0002827	Hip dislocation
7467	-	HP:0002808	Kyphosis
7467	-	HP:0000238	Hydrocephalus
7467	-	HP:0000252	Microcephaly
7467	-	HP:0001558	Decreased fetal movement
7467	-	HP:0000202	Orofacial cleft
7467	-	HP:0000204	Cleft upper lip
7467	-	HP:0001508	Failure to thrive
7467	-	HP:0001518	Small for gestational age
7467	-	HP:0001511	Intrauterine growth retardation
7467	-	HP:0001510	Growth delay
7467	-	HP:0000384	Preauricular skin tag
7467	-	HP:0000377	Abnormal pinna morphology
7467	-	HP:0002948	Vertebral fusion
7467	-	HP:0000348	High forehead
7467	-	HP:0000347	Micrognathia
7467	-	HP:0000316	Hypertelorism
7467	-	HP:0002974	Radioulnar synostosis
7467	-	HP:0000322	Short philtrum
7467	-	HP:0001629	Ventricular septal defect
7467	-	HP:0001631	Atrial septal defect
7467	-	HP:0006655	Rib segmentation abnormalities
7467	-	HP:0000407	Sensorineural hearing impairment
7467	-	HP:0000405	Conductive hearing impairment
7467	-	HP:0000402	Stenosis of the external auditory canal
7467	-	HP:0000486	Strabismus
7467	-	HP:0000465	Webbed neck
7467	-	HP:0000444	Convex nasal ridge
7467	-	HP:0001747	Accessory spleen
7467	-	HP:0001762	Talipes equinovarus
7467	-	HP:0000431	Wide nasal bridge
7467	-	HP:0001841	Preaxial foot polydactyly
7467	-	HP:0001840	Metatarsus adductus
7467	-	HP:0000520	Proptosis
7467	-	HP:0000508	Ptosis
7467	-	HP:0001812	Hyperconvex fingernails
7467	-	HP:0000558	Rieger anomaly
7468	NSD2	HP:0001177	Preaxial hand polydactyly
7468	NSD2	HP:0001171	Split hand
7468	NSD2	HP:0001166	Arachnodactyly
7468	NSD2	HP:0009918	Ectopia pupillae
7468	NSD2	HP:0009907	Attached earlobe
7468	NSD2	HP:0009890	High anterior hairline
7468	NSD2	HP:0009899	Prominent crus of helix
7468	NSD2	HP:0010864	Intellectual disability, severe
7468	NSD2	HP:0008551	Microtia
7468	NSD2	HP:0003745	Sporadic
7468	NSD2	HP:0001290	Generalized hypotonia
7468	NSD2	HP:0001274	Agenesis of corpus callosum
7468	NSD2	HP:0001250	Seizure
7468	NSD2	HP:0001252	Hypotonia
7468	NSD2	HP:0001251	Ataxia
7468	NSD2	HP:0001249	Intellectual disability
7468	NSD2	HP:0001263	Global developmental delay
7468	NSD2	HP:0007385	Aplasia cutis congenita of scalp
7468	NSD2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
7468	NSD2	HP:0002553	Highly arched eyebrow
7468	NSD2	HP:0000077	Abnormality of the kidney
7468	NSD2	HP:0000079	Abnormality of the urinary system
7468	NSD2	HP:0000078	Abnormality of the genital system
7468	NSD2	HP:0001385	Hip dysplasia
7468	NSD2	HP:0000047	Hypospadias
7468	NSD2	HP:0001362	Calvarial skull defect
7468	NSD2	HP:0000028	Cryptorchidism
7468	NSD2	HP:0008897	Postnatal growth retardation
7468	NSD2	HP:0008850	Severe postnatal growth retardation
7468	NSD2	HP:0008830	Hypoplastic pubic rami
7468	NSD2	HP:0001331	Absent septum pellucidum
7468	NSD2	HP:0000006	Autosomal dominant inheritance
7468	NSD2	HP:0002650	Scoliosis
7468	NSD2	HP:0000188	Short upper lip
7468	NSD2	HP:0000159	Abnormal lip morphology
7468	NSD2	HP:0000175	Cleft palate
7468	NSD2	HP:0000153	Abnormality of the mouth
7468	NSD2	HP:0000151	Aplasia of the uterus
7468	NSD2	HP:0000119	Abnormality of the genitourinary system
7468	NSD2	HP:0002750	Delayed skeletal maturation
7468	NSD2	HP:0002715	Abnormality of the immune system
7468	NSD2	HP:0002714	Downturned corners of mouth
7468	NSD2	HP:0002721	Immunodeficiency
7468	NSD2	HP:0002020	Gastroesophageal reflux
7468	NSD2	HP:0003363	Abdominal situs inversus
7468	NSD2	HP:0002011	Morphological central nervous system abnormality
7468	NSD2	HP:0002007	Frontal bossing
7468	NSD2	HP:0003312	Abnormal form of the vertebral bodies
7468	NSD2	HP:0002057	Prominent glabella
7468	NSD2	HP:0002144	Tethered cord
7468	NSD2	HP:0003468	Abnormal vertebral morphology
7468	NSD2	HP:0002119	Ventriculomegaly
7468	NSD2	HP:0004794	Malrotation of small bowel
7468	NSD2	HP:0002162	Low posterior hairline
7468	NSD2	HP:0011863	Abnormal sternal ossification
7468	NSD2	HP:0004719	Hyperechogenic kidneys
7468	NSD2	HP:0003593	Infantile onset
7468	NSD2	HP:0002240	Hepatomegaly
7468	NSD2	HP:0002205	Recurrent respiratory infections
7468	NSD2	HP:0100790	Hernia
7468	NSD2	HP:0011968	Feeding difficulties
7468	NSD2	HP:0002389	Cavum septum pellucidum
7468	NSD2	HP:0001028	Hemangioma
7468	NSD2	HP:0002353	EEG abnormality
7468	NSD2	HP:0001080	Biliary tract abnormality
7468	NSD2	HP:0007109	Periventricular cysts
7468	NSD2	HP:0009778	Short thumb
7468	NSD2	HP:0004209	Clinodactyly of the 5th finger
7468	NSD2	HP:0000639	Nystagmus
7468	NSD2	HP:0000648	Optic atrophy
7468	NSD2	HP:0000647	Sclerocornea
7468	NSD2	HP:0000612	Iris coloboma
7468	NSD2	HP:0000629	Periorbital fullness
7468	NSD2	HP:0000668	Hypodontia
7468	NSD2	HP:0004322	Short stature
7468	NSD2	HP:0030680	Abnormality of cardiovascular system morphology
7468	NSD2	HP:0009193	Pseudoepiphyses of the metacarpals
7468	NSD2	HP:0000752	Hyperactivity
7468	NSD2	HP:0100022	Abnormality of movement
7468	NSD2	HP:0000765	Abnormal thorax morphology
7468	NSD2	HP:0000739	Anxiety
7468	NSD2	HP:0000718	Aggressive behavior
7468	NSD2	HP:0000729	Autistic behavior
7468	NSD2	HP:0011461	Fetal onset
7468	NSD2	HP:0010109	Short hallux
7468	NSD2	HP:0000776	Congenital diaphragmatic hernia
7468	NSD2	HP:0003199	Decreased muscle mass
7468	NSD2	HP:0000925	Abnormality of the vertebral column
7468	NSD2	HP:0000902	Rib fusion
7468	NSD2	HP:0004484	Craniofacial asymmetry
7468	NSD2	HP:0004467	Preauricular pit
7468	NSD2	HP:0000826	Precocious puberty
7468	NSD2	HP:0000954	Single transverse palmar crease
7468	NSD2	HP:0000960	Sacral dimple
7468	NSD2	HP:0000939	Osteoporosis
7468	NSD2	HP:0000286	Epicanthus
7468	NSD2	HP:0000288	Abnormality of the philtrum
7468	NSD2	HP:0000268	Dolichocephaly
7468	NSD2	HP:0002827	Hip dislocation
7468	NSD2	HP:0002808	Kyphosis
7468	NSD2	HP:0000238	Hydrocephalus
7468	NSD2	HP:0000252	Microcephaly
7468	NSD2	HP:0000233	Thin vermilion border
7468	NSD2	HP:0001558	Decreased fetal movement
7468	NSD2	HP:0000202	Orofacial cleft
7468	NSD2	HP:0000204	Cleft upper lip
7468	NSD2	HP:0001508	Failure to thrive
7468	NSD2	HP:0001519	Disproportionate tall stature
7468	NSD2	HP:0001518	Small for gestational age
7468	NSD2	HP:0001511	Intrauterine growth retardation
7468	NSD2	HP:0001510	Growth delay
7468	NSD2	HP:0000384	Preauricular skin tag
7468	NSD2	HP:0000377	Abnormal pinna morphology
7468	NSD2	HP:0000389	Chronic otitis media
7468	NSD2	HP:0005268	Miscarriage
7468	NSD2	HP:0005264	Abnormality of the gallbladder
7468	NSD2	HP:0007874	Almond-shaped palpebral fissure
7468	NSD2	HP:0002948	Vertebral fusion
7468	NSD2	HP:0000365	Hearing impairment
7468	NSD2	HP:0000368	Low-set, posteriorly rotated ears
7468	NSD2	HP:0001671	Abnormal cardiac septum morphology
7468	NSD2	HP:0000343	Long philtrum
7468	NSD2	HP:0000348	High forehead
7468	NSD2	HP:0000347	Micrognathia
7468	NSD2	HP:0000316	Hypertelorism
7468	NSD2	HP:0002974	Radioulnar synostosis
7468	NSD2	HP:0000331	Short chin
7468	NSD2	HP:0001654	Abnormal heart valve morphology
7468	NSD2	HP:0000322	Short philtrum
7468	NSD2	HP:0001629	Ventricular septal defect
7468	NSD2	HP:0001631	Atrial septal defect
7468	NSD2	HP:0006610	Wide intermamillary distance
7468	NSD2	HP:0006655	Rib segmentation abnormalities
7468	NSD2	HP:0001738	Exocrine pancreatic insufficiency
7468	NSD2	HP:0000407	Sensorineural hearing impairment
7468	NSD2	HP:0000405	Conductive hearing impairment
7468	NSD2	HP:0000402	Stenosis of the external auditory canal
7468	NSD2	HP:0005280	Depressed nasal bridge
7468	NSD2	HP:0000486	Strabismus
7468	NSD2	HP:0000485	Megalocornea
7468	NSD2	HP:0000494	Downslanted palpebral fissures
7468	NSD2	HP:0000488	Retinopathy
7468	NSD2	HP:0012450	Chronic constipation
7468	NSD2	HP:0000465	Webbed neck
7468	NSD2	HP:0000444	Convex nasal ridge
7468	NSD2	HP:0001747	Accessory spleen
7468	NSD2	HP:0000411	Protruding ear
7468	NSD2	HP:0001760	Abnormal foot morphology
7468	NSD2	HP:0001762	Talipes equinovarus
7468	NSD2	HP:0000431	Wide nasal bridge
7468	NSD2	HP:0006703	Aplasia/Hypoplasia of the lungs
7468	NSD2	HP:0006709	Aplasia/Hypoplasia of the nipples
7468	NSD2	HP:0001841	Preaxial foot polydactyly
7468	NSD2	HP:0001840	Metatarsus adductus
7468	NSD2	HP:0000520	Proptosis
7468	NSD2	HP:0000506	Telecanthus
7468	NSD2	HP:0000508	Ptosis
7468	NSD2	HP:0001812	Hyperconvex fingernails
7468	NSD2	HP:0012584	Bilateral renal hypoplasia
7468	NSD2	HP:0000582	Upslanted palpebral fissure
7468	NSD2	HP:0011220	Prominent forehead
7468	NSD2	HP:0000558	Rieger anomaly
7469	NELFA	HP:0001177	Preaxial hand polydactyly
7469	NELFA	HP:0001171	Split hand
7469	NELFA	HP:0001166	Arachnodactyly
7469	NELFA	HP:0009890	High anterior hairline
7469	NELFA	HP:0010864	Intellectual disability, severe
7469	NELFA	HP:0008551	Microtia
7469	NELFA	HP:0001274	Agenesis of corpus callosum
7469	NELFA	HP:0001250	Seizure
7469	NELFA	HP:0001252	Hypotonia
7469	NELFA	HP:0001251	Ataxia
7469	NELFA	HP:0001263	Global developmental delay
7469	NELFA	HP:0007385	Aplasia cutis congenita of scalp
7469	NELFA	HP:0007360	Aplasia/Hypoplasia of the cerebellum
7469	NELFA	HP:0002553	Highly arched eyebrow
7469	NELFA	HP:0000077	Abnormality of the kidney
7469	NELFA	HP:0000079	Abnormality of the urinary system
7469	NELFA	HP:0000078	Abnormality of the genital system
7469	NELFA	HP:0000047	Hypospadias
7469	NELFA	HP:0001362	Calvarial skull defect
7469	NELFA	HP:0000028	Cryptorchidism
7469	NELFA	HP:0008830	Hypoplastic pubic rami
7469	NELFA	HP:0002650	Scoliosis
7469	NELFA	HP:0000159	Abnormal lip morphology
7469	NELFA	HP:0000175	Cleft palate
7469	NELFA	HP:0000153	Abnormality of the mouth
7469	NELFA	HP:0002750	Delayed skeletal maturation
7469	NELFA	HP:0002715	Abnormality of the immune system
7469	NELFA	HP:0002714	Downturned corners of mouth
7469	NELFA	HP:0003363	Abdominal situs inversus
7469	NELFA	HP:0002007	Frontal bossing
7469	NELFA	HP:0003312	Abnormal form of the vertebral bodies
7469	NELFA	HP:0002144	Tethered cord
7469	NELFA	HP:0003468	Abnormal vertebral morphology
7469	NELFA	HP:0002162	Low posterior hairline
7469	NELFA	HP:0002205	Recurrent respiratory infections
7469	NELFA	HP:0100790	Hernia
7469	NELFA	HP:0001028	Hemangioma
7469	NELFA	HP:0009778	Short thumb
7469	NELFA	HP:0000639	Nystagmus
7469	NELFA	HP:0000648	Optic atrophy
7469	NELFA	HP:0000647	Sclerocornea
7469	NELFA	HP:0000612	Iris coloboma
7469	NELFA	HP:0000668	Hypodontia
7469	NELFA	HP:0030680	Abnormality of cardiovascular system morphology
7469	NELFA	HP:0100022	Abnormality of movement
7469	NELFA	HP:0000765	Abnormal thorax morphology
7469	NELFA	HP:0010109	Short hallux
7469	NELFA	HP:0000776	Congenital diaphragmatic hernia
7469	NELFA	HP:0000925	Abnormality of the vertebral column
7469	NELFA	HP:0000902	Rib fusion
7469	NELFA	HP:0000960	Sacral dimple
7469	NELFA	HP:0000939	Osteoporosis
7469	NELFA	HP:0000286	Epicanthus
7469	NELFA	HP:0000288	Abnormality of the philtrum
7469	NELFA	HP:0000268	Dolichocephaly
7469	NELFA	HP:0002808	Kyphosis
7469	NELFA	HP:0000252	Microcephaly
7469	NELFA	HP:0001558	Decreased fetal movement
7469	NELFA	HP:0000204	Cleft upper lip
7469	NELFA	HP:0001508	Failure to thrive
7469	NELFA	HP:0001519	Disproportionate tall stature
7469	NELFA	HP:0001511	Intrauterine growth retardation
7469	NELFA	HP:0000389	Chronic otitis media
7469	NELFA	HP:0005264	Abnormality of the gallbladder
7469	NELFA	HP:0000365	Hearing impairment
7469	NELFA	HP:0000368	Low-set, posteriorly rotated ears
7469	NELFA	HP:0001671	Abnormal cardiac septum morphology
7469	NELFA	HP:0000348	High forehead
7469	NELFA	HP:0000347	Micrognathia
7469	NELFA	HP:0000316	Hypertelorism
7469	NELFA	HP:0001654	Abnormal heart valve morphology
7469	NELFA	HP:0000322	Short philtrum
7469	NELFA	HP:0001631	Atrial septal defect
7469	NELFA	HP:0006655	Rib segmentation abnormalities
7469	NELFA	HP:0000486	Strabismus
7469	NELFA	HP:0000485	Megalocornea
7469	NELFA	HP:0000494	Downslanted palpebral fissures
7469	NELFA	HP:0000488	Retinopathy
7469	NELFA	HP:0001760	Abnormal foot morphology
7469	NELFA	HP:0001762	Talipes equinovarus
7469	NELFA	HP:0000431	Wide nasal bridge
7469	NELFA	HP:0006703	Aplasia/Hypoplasia of the lungs
7469	NELFA	HP:0006709	Aplasia/Hypoplasia of the nipples
7469	NELFA	HP:0000520	Proptosis
7469	NELFA	HP:0000508	Ptosis
7471	WNT1	HP:0001288	Gait disturbance
7471	WNT1	HP:0001263	Global developmental delay
7471	WNT1	HP:0001382	Joint hypermobility
7471	WNT1	HP:0000007	Autosomal recessive inheritance
7471	WNT1	HP:0002653	Bone pain
7471	WNT1	HP:0002650	Scoliosis
7471	WNT1	HP:0001321	Cerebellar hypoplasia
7471	WNT1	HP:0012110	Hypoplasia of the pons
7471	WNT1	HP:0002757	Recurrent fractures
7471	WNT1	HP:0010636	Schizencephaly
7471	WNT1	HP:0004322	Short stature
7471	WNT1	HP:0003023	Bowing of limbs due to multiple fractures
7471	WNT1	HP:0000926	Platyspondyly
7471	WNT1	HP:0000883	Thin ribs
7471	WNT1	HP:0000939	Osteoporosis
7471	WNT1	HP:0002808	Kyphosis
7471	WNT1	HP:0002953	Vertebral compression fracture
7471	WNT1	HP:0000592	Blue sclerae
7473	WNT3	HP:0009932	Single naris
7473	WNT3	HP:0001195	Single umbilical artery
7473	WNT3	HP:0009924	Aplasia/Hypoplasia involving the nose
7473	WNT3	HP:0008551	Microtia
7473	WNT3	HP:0001274	Agenesis of corpus callosum
7473	WNT3	HP:0100842	Septo-optic dysplasia
7473	WNT3	HP:0008697	Hypoplasia of the fallopian tube
7473	WNT3	HP:0000068	Urethral atresia
7473	WNT3	HP:0000042	Absent external genitalia
7473	WNT3	HP:0000028	Cryptorchidism
7473	WNT3	HP:0008839	Hypoplastic pelvis
7473	WNT3	HP:0000007	Autosomal recessive inheritance
7473	WNT3	HP:0000003	Multicystic kidney dysplasia
7473	WNT3	HP:0000160	Narrow mouth
7473	WNT3	HP:0000175	Cleft palate
7473	WNT3	HP:0000148	Vaginal atresia
7473	WNT3	HP:0002777	Tracheal stenosis
7473	WNT3	HP:0000104	Renal agenesis
7473	WNT3	HP:0002023	Anal atresia
7473	WNT3	HP:0002089	Pulmonary hypoplasia
7473	WNT3	HP:0011743	Adrenal gland agenesis
7473	WNT3	HP:0100569	Abnormally ossified vertebrae
7473	WNT3	HP:0002101	Abnormal lung lobation
7473	WNT3	HP:0000648	Optic atrophy
7473	WNT3	HP:0000612	Iris coloboma
7473	WNT3	HP:0003057	Tetraamelia
7473	WNT3	HP:0009103	Aplasia/Hypoplasia involving the pelvis
7473	WNT3	HP:0000772	Abnormal rib morphology
7473	WNT3	HP:0011461	Fetal onset
7473	WNT3	HP:0000776	Congenital diaphragmatic hernia
7473	WNT3	HP:0000921	Missing ribs
7473	WNT3	HP:0000889	Abnormal clavicle morphology
7473	WNT3	HP:0000238	Hydrocephalus
7473	WNT3	HP:0001543	Gastroschisis
7473	WNT3	HP:0001561	Polyhydramnios
7473	WNT3	HP:0000202	Orofacial cleft
7473	WNT3	HP:0000204	Cleft upper lip
7473	WNT3	HP:0001600	Abnormality of the larynx
7473	WNT3	HP:0000369	Low-set ears
7473	WNT3	HP:0000347	Micrognathia
7473	WNT3	HP:0005316	Peripheral pulmonary vessel aplasia
7473	WNT3	HP:0000482	Microcornea
7473	WNT3	HP:0000453	Choanal atresia
7473	WNT3	HP:0001746	Asplenia
7473	WNT3	HP:0006703	Aplasia/Hypoplasia of the lungs
7473	WNT3	HP:0006709	Aplasia/Hypoplasia of the nipples
7473	WNT3	HP:0000518	Cataract
7473	WNT3	HP:0000568	Microphthalmia
7474	WNT5A	HP:0001156	Brachydactyly
7474	WNT5A	HP:0009883	Duplication of the distal phalanx of hand
7474	WNT5A	HP:0001249	Intellectual disability
7474	WNT5A	HP:0001263	Global developmental delay
7474	WNT5A	HP:0006101	Finger syndactyly
7474	WNT5A	HP:0008736	Hypoplasia of penis
7474	WNT5A	HP:0000064	Hypoplastic labia minora
7474	WNT5A	HP:0000060	Clitoral hypoplasia
7474	WNT5A	HP:0000059	Hypoplastic labia majora
7474	WNT5A	HP:0000075	Renal duplication
7474	WNT5A	HP:0000036	Abnormal penis morphology
7474	WNT5A	HP:0000039	Epispadias
7474	WNT5A	HP:0000054	Micropenis
7474	WNT5A	HP:0001385	Hip dysplasia
7474	WNT5A	HP:0000047	Hypospadias
7474	WNT5A	HP:0000023	Inguinal hernia
7474	WNT5A	HP:0000028	Cryptorchidism
7474	WNT5A	HP:0001328	Specific learning disability
7474	WNT5A	HP:0002673	Coxa valga
7474	WNT5A	HP:0000006	Autosomal dominant inheritance
7474	WNT5A	HP:0002650	Scoliosis
7474	WNT5A	HP:0000189	Narrow palate
7474	WNT5A	HP:0008905	Rhizomelia
7474	WNT5A	HP:0000158	Macroglossia
7474	WNT5A	HP:0000168	Abnormality of the gingiva
7474	WNT5A	HP:0007665	Curly eyelashes
7474	WNT5A	HP:0006335	Persistence of primary teeth
7474	WNT5A	HP:0002705	High, narrow palate
7474	WNT5A	HP:0000126	Hydronephrosis
7474	WNT5A	HP:0002750	Delayed skeletal maturation
7474	WNT5A	HP:0002714	Downturned corners of mouth
7474	WNT5A	HP:0002007	Frontal bossing
7474	WNT5A	HP:0003312	Abnormal form of the vertebral bodies
7474	WNT5A	HP:0011800	Midface retrusion
7474	WNT5A	HP:0100541	Femoral hernia
7474	WNT5A	HP:0009466	Radial deviation of finger
7474	WNT5A	HP:0002164	Nail dysplasia
7474	WNT5A	HP:0100490	Camptodactyly of finger
7474	WNT5A	HP:0003577	Congenital onset
7474	WNT5A	HP:0008402	Ridged fingernail
7474	WNT5A	HP:0100798	Fingernail dysplasia
7474	WNT5A	HP:0003510	Severe short stature
7474	WNT5A	HP:0001052	Nevus flammeus
7474	WNT5A	HP:0008501	Median cleft lip and palate
7474	WNT5A	HP:0010807	Open bite
7474	WNT5A	HP:0200055	Small hand
7474	WNT5A	HP:0010733	Naevus flammeus of the eyelid
7474	WNT5A	HP:0004209	Clinodactyly of the 5th finger
7474	WNT5A	HP:0004279	Short palm
7474	WNT5A	HP:0004220	Short middle phalanx of the 5th finger
7474	WNT5A	HP:0000637	Long palpebral fissure
7474	WNT5A	HP:0000684	Delayed eruption of teeth
7474	WNT5A	HP:0000678	Dental crowding
7474	WNT5A	HP:0000674	Anodontia
7474	WNT5A	HP:0000677	Oligodontia
7474	WNT5A	HP:0011304	Broad thumb
7474	WNT5A	HP:0000668	Hypodontia
7474	WNT5A	HP:0004322	Short stature
7474	WNT5A	HP:0003083	Dislocated radial head
7474	WNT5A	HP:0003042	Elbow dislocation
7474	WNT5A	HP:0003026	Short long bone
7474	WNT5A	HP:0003027	Mesomelia
7474	WNT5A	HP:0000767	Pectus excavatum
7474	WNT5A	HP:0000768	Pectus carinatum
7474	WNT5A	HP:0005743	Avascular necrosis of the capital femoral epiphysis
7474	WNT5A	HP:0012905	Euryblepharon
7474	WNT5A	HP:0003196	Short nose
7474	WNT5A	HP:0010297	Bifid tongue
7474	WNT5A	HP:0010290	Short hard palate
7474	WNT5A	HP:0040036	Onychogryposis of fingernail
7474	WNT5A	HP:0005852	Limited elbow extension and supination
7474	WNT5A	HP:0000960	Sacral dimple
7474	WNT5A	HP:0000286	Epicanthus
7474	WNT5A	HP:0000278	Retrognathia
7474	WNT5A	HP:0001596	Alopecia
7474	WNT5A	HP:0000260	Wide anterior fontanel
7474	WNT5A	HP:0000256	Macrocephaly
7474	WNT5A	HP:0000272	Malar flattening
7474	WNT5A	HP:0002812	Coxa vara
7474	WNT5A	HP:0002827	Hip dislocation
7474	WNT5A	HP:0030084	Clinodactyly
7474	WNT5A	HP:0000219	Thin upper lip vermilion
7474	WNT5A	HP:0000218	High palate
7474	WNT5A	HP:0000212	Gingival overgrowth
7474	WNT5A	HP:0000200	Short lingual frenulum
7474	WNT5A	HP:0001537	Umbilical hernia
7474	WNT5A	HP:0000207	Triangular mouth
7474	WNT5A	HP:0000202	Orofacial cleft
7474	WNT5A	HP:0011069	Supernumerary tooth
7474	WNT5A	HP:0012368	Flat face
7474	WNT5A	HP:0002937	Hemivertebrae
7474	WNT5A	HP:0000365	Hearing impairment
7474	WNT5A	HP:0000358	Posteriorly rotated ears
7474	WNT5A	HP:0000369	Low-set ears
7474	WNT5A	HP:0000343	Long philtrum
7474	WNT5A	HP:0000347	Micrognathia
7474	WNT5A	HP:0002983	Micromelia
7474	WNT5A	HP:0000316	Hypertelorism
7474	WNT5A	HP:0000322	Short philtrum
7474	WNT5A	HP:0005306	Capillary hemangioma
7474	WNT5A	HP:0001705	Right ventricular outlet tract obstruction
7474	WNT5A	HP:0005280	Depressed nasal bridge
7474	WNT5A	HP:0000486	Strabismus
7474	WNT5A	HP:0000494	Downslanted palpebral fissures
7474	WNT5A	HP:0000463	Anteverted nares
7474	WNT5A	HP:0000470	Short neck
7474	WNT5A	HP:0000445	Wide nose
7474	WNT5A	HP:0000431	Wide nasal bridge
7474	WNT5A	HP:0000527	Long eyelashes
7474	WNT5A	HP:0000520	Proptosis
7474	WNT5A	HP:0001853	Bifid distal phalanx of toe
7474	WNT5A	HP:0001837	Broad toe
7474	WNT5A	HP:0000508	Ptosis
7474	WNT5A	HP:0000582	Upslanted palpebral fissure
7474	WNT5A	HP:0000592	Blue sclerae
7474	WNT5A	HP:0011220	Prominent forehead
7476	WNT7A	HP:0001171	Split hand
7476	WNT7A	HP:0001180	Hand oligodactyly
7476	WNT7A	HP:0001162	Postaxial hand polydactyly
7476	WNT7A	HP:0002436	Occipital meningocele
7476	WNT7A	HP:0002435	Meningocele
7476	WNT7A	HP:0002557	Hypoplastic nipples
7476	WNT7A	HP:0002575	Tracheoesophageal fistula
7476	WNT7A	HP:0006101	Finger syndactyly
7476	WNT7A	HP:0008736	Hypoplasia of penis
7476	WNT7A	HP:0001374	Congenital hip dislocation
7476	WNT7A	HP:0000046	Small scrotum
7476	WNT7A	HP:0000047	Hypospadias
7476	WNT7A	HP:0001362	Calvarial skull defect
7476	WNT7A	HP:0000028	Cryptorchidism
7476	WNT7A	HP:0008839	Hypoplastic pelvis
7476	WNT7A	HP:0008817	Aplastic pubic bones
7476	WNT7A	HP:0006143	Abnormal finger flexion crease
7476	WNT7A	HP:0000007	Autosomal recessive inheritance
7476	WNT7A	HP:0003982	Aplasia of the ulna
7476	WNT7A	HP:0000189	Narrow palate
7476	WNT7A	HP:0000175	Cleft palate
7476	WNT7A	HP:0000141	Amenorrhea
7476	WNT7A	HP:0000151	Aplasia of the uterus
7476	WNT7A	HP:0002705	High, narrow palate
7476	WNT7A	HP:0006262	Aplasia/Hypoplasia of the 5th finger
7476	WNT7A	HP:0006265	Aplasia/Hypoplasia of fingers
7476	WNT7A	HP:0002023	Anal atresia
7476	WNT7A	HP:0009465	Ulnar deviation of finger
7476	WNT7A	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
7476	WNT7A	HP:0003498	Disproportionate short stature
7476	WNT7A	HP:0002164	Nail dysplasia
7476	WNT7A	HP:0008363	Aplasia/Hypoplasia of the tarsal bones
7476	WNT7A	HP:0008517	Aplasia/Hypoplasia of the sacrum
7476	WNT7A	HP:0009829	Phocomelia
7476	WNT7A	HP:0009815	Aplasia/hypoplasia of the extremities
7476	WNT7A	HP:0010769	Pilonidal sinus
7476	WNT7A	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
7476	WNT7A	HP:0004231	Carpal bone aplasia
7476	WNT7A	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
7476	WNT7A	HP:0004322	Short stature
7476	WNT7A	HP:0005613	Aplasia/hypoplasia of the femur
7476	WNT7A	HP:0003070	Elbow ankylosis
7476	WNT7A	HP:0003041	Humeroradial synostosis
7476	WNT7A	HP:0400004	Long ear
7476	WNT7A	HP:0009104	Aplasia/Hypoplasia of the pubic bone
7476	WNT7A	HP:0009103	Aplasia/Hypoplasia involving the pelvis
7476	WNT7A	HP:0000768	Pectus carinatum
7476	WNT7A	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
7476	WNT7A	HP:0003196	Short nose
7476	WNT7A	HP:0000916	Broad clavicles
7476	WNT7A	HP:0000884	Prominent sternum
7476	WNT7A	HP:0000885	Broad ribs
7476	WNT7A	HP:0003252	Anteriorly displaced genitalia
7476	WNT7A	HP:0100257	Ectrodactyly
7476	WNT7A	HP:0000286	Epicanthus
7476	WNT7A	HP:0000276	Long face
7476	WNT7A	HP:0006443	Patellar aplasia
7476	WNT7A	HP:0002827	Hip dislocation
7476	WNT7A	HP:0030084	Clinodactyly
7476	WNT7A	HP:0001552	Barrel-shaped chest
7476	WNT7A	HP:0000218	High palate
7476	WNT7A	HP:0002866	Hypoplastic iliac wing
7476	WNT7A	HP:0001511	Intrauterine growth retardation
7476	WNT7A	HP:0006502	Aplasia/Hypoplasia involving the carpal bones
7476	WNT7A	HP:0000377	Abnormal pinna morphology
7476	WNT7A	HP:0006585	Congenital pseudoarthrosis of the clavicle
7476	WNT7A	HP:0002937	Hemivertebrae
7476	WNT7A	HP:0006492	Aplasia/Hypoplasia of the fibula
7476	WNT7A	HP:0006495	Aplasia/Hypoplasia of the ulna
7476	WNT7A	HP:0006487	Bowing of the long bones
7476	WNT7A	HP:0000369	Low-set ears
7476	WNT7A	HP:0000347	Micrognathia
7476	WNT7A	HP:0002983	Micromelia
7476	WNT7A	HP:0002980	Femoral bowing
7476	WNT7A	HP:0002992	Abnormality of tibia morphology
7476	WNT7A	HP:0002990	Fibular aplasia
7476	WNT7A	HP:0002986	Radial bowing
7476	WNT7A	HP:0002987	Elbow flexion contracture
7476	WNT7A	HP:0002984	Hypoplasia of the radius
7476	WNT7A	HP:0001789	Hydrops fetalis
7476	WNT7A	HP:0000475	Broad neck
7476	WNT7A	HP:0000470	Short neck
7476	WNT7A	HP:0001798	Anonychia
7476	WNT7A	HP:0001770	Toe syndactyly
7476	WNT7A	HP:0001773	Short foot
7476	WNT7A	HP:0000411	Protruding ear
7476	WNT7A	HP:0001762	Talipes equinovarus
7476	WNT7A	HP:0000431	Wide nasal bridge
7476	WNT7A	HP:0005474	Decreased calvarial ossification
7476	WNT7A	HP:0001849	Foot oligodactyly
7476	WNT7A	HP:0001802	Absent toenail
7476	WNT7A	HP:0001883	Talipes
7480	WNT10B	HP:0001171	Split hand
7480	WNT10B	HP:0001180	Hand oligodactyly
7480	WNT10B	HP:0006101	Finger syndactyly
7480	WNT10B	HP:0003829	Typified by incomplete penetrance
7480	WNT10B	HP:0000007	Autosomal recessive inheritance
7480	WNT10B	HP:0000006	Autosomal dominant inheritance
7480	WNT10B	HP:0012165	Oligodactyly
7480	WNT10B	HP:0006342	Peg-shaped maxillary lateral incisors
7480	WNT10B	HP:0006344	Abnormality of primary molar morphology
7480	WNT10B	HP:0006336	Short dental root
7480	WNT10B	HP:0006297	Enamel hypoplasia
7480	WNT10B	HP:0006289	Agenesis of central incisor
7480	WNT10B	HP:0000696	Delayed eruption of permanent teeth
7480	WNT10B	HP:0000684	Delayed eruption of teeth
7480	WNT10B	HP:0000679	Taurodontia
7480	WNT10B	HP:0000677	Oligodontia
7480	WNT10B	HP:0000691	Microdontia
7480	WNT10B	HP:0000690	Agenesis of maxillary lateral incisor
7480	WNT10B	HP:0000689	Dental malocclusion
7480	WNT10B	HP:0000685	Hypoplasia of teeth
7480	WNT10B	HP:0000687	Widely spaced teeth
7480	WNT10B	HP:0045075	Sparse eyebrow
7480	WNT10B	HP:0000958	Dry skin
7480	WNT10B	HP:0008070	Sparse hair
7480	WNT10B	HP:0001592	Selective tooth agenesis
7480	WNT10B	HP:0000202	Orofacial cleft
7480	WNT10B	HP:0011078	Abnormality of canine
7480	WNT10B	HP:0011053	Agenesis of mandibular premolar
7480	WNT10B	HP:0011051	Agenesis of premolar
7480	WNT10B	HP:0011056	Agenesis of first permanent molar tooth
7480	WNT10B	HP:0005216	Impaired mastication
7480	WNT10B	HP:0006482	Abnormality of dental morphology
7480	WNT10B	HP:0004050	Absent hand
7480	WNT10B	HP:0000407	Sensorineural hearing impairment
7480	WNT10B	HP:0012472	Eclabion
7480	WNT10B	HP:0001770	Toe syndactyly
7480	WNT10B	HP:0001849	Foot oligodactyly
7480	WNT10B	HP:0000526	Aniridia
7480	WNT10B	HP:0001839	Split foot
7480	WNT10B	HP:0011219	Short face
7482	WNT2B	HP:0000007	Autosomal recessive inheritance
7482	WNT2B	HP:0002014	Diarrhea
7482	WNT2B	HP:0011473	Villous atrophy
7482	WNT2B	HP:0001508	Failure to thrive
7484	WNT9B	HP:0002575	Tracheoesophageal fistula
7484	WNT9B	HP:0000008	Abnormal morphology of female internal genitalia
7484	WNT9B	HP:0000175	Cleft palate
7484	WNT9B	HP:0000104	Renal agenesis
7484	WNT9B	HP:0002089	Pulmonary hypoplasia
7484	WNT9B	HP:0100589	Urogenital fistula
7484	WNT9B	HP:0010497	Sirenomelia
7484	WNT9B	HP:0002242	Abnormal intestine morphology
7484	WNT9B	HP:0001958	Nonketotic hypoglycemia
7484	WNT9B	HP:0030680	Abnormality of cardiovascular system morphology
7484	WNT9B	HP:0100335	Non-midline cleft lip
7484	WNT9B	HP:0000286	Epicanthus
7484	WNT9B	HP:0005107	Abnormal sacrum morphology
7484	WNT9B	HP:0001562	Oligohydramnios
7484	WNT9B	HP:0001563	Fetal polyuria
7484	WNT9B	HP:0000369	Low-set ears
7484	WNT9B	HP:0000316	Hypertelorism
7484	WNT9B	HP:0000457	Depressed nasal ridge
7486	WRN	HP:0003777	Pili torti
7486	WRN	HP:0100833	Neoplasm of the small intestine
7486	WRN	HP:0012060	Acral lentiginous melanoma
7486	WRN	HP:0012056	Cutaneous melanoma
7486	WRN	HP:0001387	Joint stiffness
7486	WRN	HP:0000035	Abnormal testis morphology
7486	WRN	HP:0007495	Prematurely aged appearance
7486	WRN	HP:0002664	Neoplasm
7486	WRN	HP:0002672	Gastrointestinal carcinoma
7486	WRN	HP:0000007	Autosomal recessive inheritance
7486	WRN	HP:0002669	Osteosarcoma
7486	WRN	HP:0002621	Atherosclerosis
7486	WRN	HP:0000144	Decreased fertility
7486	WRN	HP:0000135	Hypogonadism
7486	WRN	HP:0007618	Subcutaneous calcification
7486	WRN	HP:0005978	Type II diabetes mellitus
7486	WRN	HP:0100526	Neoplasm of the lung
7486	WRN	HP:0100585	Telangiectasia of the skin
7486	WRN	HP:0100578	Lipoatrophy
7486	WRN	HP:0010468	Aplasia/Hypoplasia of the testes
7486	WRN	HP:0002155	Hypertriglyceridemia
7486	WRN	HP:0003419	Low back pain
7486	WRN	HP:0002216	Premature graying of hair
7486	WRN	HP:0002211	White forelock
7486	WRN	HP:0002209	Sparse scalp hair
7486	WRN	HP:0010721	Abnormal hair whorl
7486	WRN	HP:0009726	Renal neoplasm
7486	WRN	HP:0002293	Alopecia of scalp
7486	WRN	HP:0100649	Neoplasm of the oral cavity
7486	WRN	HP:0100659	Abnormal cerebral vascular morphology
7486	WRN	HP:0100679	Lack of skin elasticity
7486	WRN	HP:0100615	Ovarian neoplasm
7486	WRN	HP:0200042	Skin ulcer
7486	WRN	HP:0200055	Small hand
7486	WRN	HP:0003621	Juvenile onset
7486	WRN	HP:0004322	Short stature
7486	WRN	HP:0031956	Elevated circulating aspartate aminotransferase concentration
7486	WRN	HP:0003002	Breast carcinoma
7486	WRN	HP:0031964	Elevated circulating alanine aminotransferase concentration
7486	WRN	HP:0004349	Reduced bone mineral density
7486	WRN	HP:0000765	Abnormal thorax morphology
7486	WRN	HP:0009125	Lipodystrophy
7486	WRN	HP:0004415	Pulmonary artery stenosis
7486	WRN	HP:0000855	Insulin resistance
7486	WRN	HP:0000869	Secondary amenorrhea
7486	WRN	HP:0100324	Scleroderma
7486	WRN	HP:0000819	Diabetes mellitus
7486	WRN	HP:0000822	Hypertension
7486	WRN	HP:0040217	Elevated hemoglobin A1c
7486	WRN	HP:0003202	Skeletal muscle atrophy
7486	WRN	HP:0000962	Hyperkeratosis
7486	WRN	HP:0000939	Osteoporosis
7486	WRN	HP:0000934	Chondrocalcinosis
7486	WRN	HP:0100242	Sarcoma
7486	WRN	HP:0008065	Aplasia/Hypoplasia of the skin
7486	WRN	HP:0007703	Abnormality of retinal pigmentation
7486	WRN	HP:0000275	Narrow face
7486	WRN	HP:0002890	Thyroid carcinoma
7486	WRN	HP:0002861	Melanoma
7486	WRN	HP:0002860	Squamous cell carcinoma
7486	WRN	HP:0002858	Meningioma
7486	WRN	HP:0001533	Slender build
7486	WRN	HP:0005268	Miscarriage
7486	WRN	HP:0001608	Abnormality of the voice
7486	WRN	HP:0001601	Laryngomalacia
7486	WRN	HP:0005177	Premature arteriosclerosis
7486	WRN	HP:0011001	Increased bone mineral density
7486	WRN	HP:0000320	Bird-like facies
7486	WRN	HP:0001658	Myocardial infarction
7486	WRN	HP:0001620	High pitched voice
7486	WRN	HP:0001635	Congestive heart failure
7486	WRN	HP:0005328	Progeroid facial appearance
7486	WRN	HP:0000444	Convex nasal ridge
7486	WRN	HP:0000518	Cataract
7486	WRN	HP:0001838	Rocker bottom foot
7486	WRN	HP:0000546	Retinal degeneration
7490	WT1	HP:0001153	Septate vagina
7490	WT1	HP:0003774	Stage 5 chronic kidney disease
7490	WT1	HP:0025193	Posterolateral diaphragmatic hernia
7490	WT1	HP:0010923	Anterior subcapsular cataract
7490	WT1	HP:0001195	Single umbilical artery
7490	WT1	HP:0009918	Ectopia pupillae
7490	WT1	HP:0003762	Uterus didelphys
7490	WT1	HP:0007299	Dysfunction of lateral corticospinal tracts
7490	WT1	HP:0100820	Glomerulopathy
7490	WT1	HP:0002586	Peritonitis
7490	WT1	HP:0002585	Abnormality of the peritoneum
7490	WT1	HP:0001249	Intellectual disability
7490	WT1	HP:0002595	Ileus
7490	WT1	HP:0008726	Hypoplasia of the vagina
7490	WT1	HP:0008730	Female external genitalia in individual with 46,XY karyotype
7490	WT1	HP:0008734	Decreased testicular size
7490	WT1	HP:0008736	Hypoplasia of penis
7490	WT1	HP:0008715	Testicular dysgenesis
7490	WT1	HP:0008723	Gonadal dysgenesis with female appearance, male
7490	WT1	HP:0008665	Clitoral hypertrophy
7490	WT1	HP:0003826	Stillbirth
7490	WT1	HP:0003819	Death in childhood
7490	WT1	HP:0003811	Neonatal death
7490	WT1	HP:0000083	Renal insufficiency
7490	WT1	HP:0000085	Horseshoe kidney
7490	WT1	HP:0000097	Focal segmental glomerulosclerosis
7490	WT1	HP:0000093	Proteinuria
7490	WT1	HP:0000062	Ambiguous genitalia
7490	WT1	HP:0000061	Ambiguous genitalia, female
7490	WT1	HP:0000058	Abnormal labia morphology
7490	WT1	HP:0000044	Hypogonadotropic hypogonadism
7490	WT1	HP:0000045	Abnormality of the scrotum
7490	WT1	HP:0000037	Male pseudohermaphroditism
7490	WT1	HP:0000054	Micropenis
7490	WT1	HP:0012020	Right aortic arch
7490	WT1	HP:0000047	Hypospadias
7490	WT1	HP:0000033	Ambiguous genitalia, male
7490	WT1	HP:0000030	Testicular gonadoblastoma
7490	WT1	HP:0000028	Cryptorchidism
7490	WT1	HP:0000027	Azoospermia
7490	WT1	HP:0002664	Neoplasm
7490	WT1	HP:0002667	Nephroblastoma
7490	WT1	HP:0000006	Autosomal dominant inheritance
7490	WT1	HP:0033743	Macular agenesis
7490	WT1	HP:0002650	Scoliosis
7490	WT1	HP:0002643	Neonatal respiratory distress
7490	WT1	HP:0001488	Bilateral ptosis
7490	WT1	HP:0000142	Abnormal vagina morphology
7490	WT1	HP:0001466	Contiguous gene syndrome
7490	WT1	HP:0000150	Gonadoblastoma
7490	WT1	HP:0000147	Polycystic ovaries
7490	WT1	HP:0000149	Ovarian gonadoblastoma
7490	WT1	HP:0000148	Vaginal atresia
7490	WT1	HP:0007676	Hypoplasia of the iris
7490	WT1	HP:0000133	Gonadal dysgenesis
7490	WT1	HP:0000130	Abnormality of the uterus
7490	WT1	HP:0000100	Nephrotic syndrome
7490	WT1	HP:0001428	Somatic mutation
7490	WT1	HP:0000112	Nephropathy
7490	WT1	HP:0000105	Enlarged kidney
7490	WT1	HP:0002750	Delayed skeletal maturation
7490	WT1	HP:0002716	Lymphadenopathy
7490	WT1	HP:0032592	Aplasia of the right hemidiaphragm
7490	WT1	HP:0002017	Nausea and vomiting
7490	WT1	HP:0002027	Abdominal pain
7490	WT1	HP:0040314	Blind vagina
7490	WT1	HP:0100526	Neoplasm of the lung
7490	WT1	HP:0100539	Periorbital edema
7490	WT1	HP:0002089	Pulmonary hypoplasia
7490	WT1	HP:0002079	Hypoplasia of the corpus callosum
7490	WT1	HP:0011720	Cardiac total anomalous pulmonary venous connection
7490	WT1	HP:0008193	Primary gonadal insufficiency
7490	WT1	HP:0008187	Absence of secondary sex characteristics
7490	WT1	HP:0010464	Streak ovary
7490	WT1	HP:0010459	True hermaphroditism
7490	WT1	HP:0002126	Polymicrogyria
7490	WT1	HP:0002101	Abnormal lung lobation
7490	WT1	HP:0004736	Crossed fused renal ectopia
7490	WT1	HP:0033210	Congenital alveolar dysplasia
7490	WT1	HP:0008232	Elevated circulating follicle stimulating hormone level
7490	WT1	HP:0008214	Decreased serum estradiol
7490	WT1	HP:0003577	Congenital onset
7490	WT1	HP:0002240	Hepatomegaly
7490	WT1	HP:0002215	Sparse axillary hair
7490	WT1	HP:0002225	Sparse pubic hair
7490	WT1	HP:0100779	Urogenital sinus anomaly
7490	WT1	HP:0100721	Mediastinal lymphadenopathy
7490	WT1	HP:0011969	Elevated circulating luteinizing hormone level
7490	WT1	HP:0011947	Respiratory tract infection
7490	WT1	HP:0003676	Progressive
7490	WT1	HP:0002315	Headache
7490	WT1	HP:0200020	Corneal erosion
7490	WT1	HP:0100615	Ovarian neoplasm
7490	WT1	HP:0100627	Displacement of the urethral meatus
7490	WT1	HP:0001083	Ectopia lentis
7490	WT1	HP:0100632	Pulmonary sequestration
7490	WT1	HP:0010788	Testicular neoplasm
7490	WT1	HP:0010773	Partial anomalous pulmonary venous return
7490	WT1	HP:0010772	Anomalous pulmonary venous return
7490	WT1	HP:0031883	Increased proinsulin:insulin ratio
7490	WT1	HP:0012622	Chronic kidney disease
7490	WT1	HP:0000639	Nystagmus
7490	WT1	HP:0001967	Diffuse mesangial sclerosis
7490	WT1	HP:0001945	Fever
7490	WT1	HP:0001952	Glucose intolerance
7490	WT1	HP:0000609	Optic nerve hypoplasia
7490	WT1	HP:0001903	Anemia
7490	WT1	HP:0004322	Short stature
7490	WT1	HP:0004326	Cachexia
7490	WT1	HP:0030680	Abnormality of cardiovascular system morphology
7490	WT1	HP:0003073	Hypoalbuminemia
7490	WT1	HP:0004383	Hypoplastic left heart
7490	WT1	HP:0034198	Second trimester onset
7490	WT1	HP:0100006	Neoplasm of the central nervous system
7490	WT1	HP:0000771	Gynecomastia
7490	WT1	HP:0000737	Irritability
7490	WT1	HP:0100001	Malignant mesothelioma
7490	WT1	HP:0000707	Abnormality of the nervous system
7490	WT1	HP:0011496	Corneal neovascularization
7490	WT1	HP:0011463	Childhood onset
7490	WT1	HP:0000776	Congenital diaphragmatic hernia
7490	WT1	HP:0000790	Hematuria
7490	WT1	HP:0009110	Diaphragmatic eventration
7490	WT1	HP:0009112	Aplasia of the left hemidiaphragm
7490	WT1	HP:0000786	Primary amenorrhea
7490	WT1	HP:0012870	Vanishing testis
7490	WT1	HP:0012841	Retinal vascular tortuosity
7490	WT1	HP:0000868	Decreased fertility in females
7490	WT1	HP:0000837	Increased circulating gonadotropin level
7490	WT1	HP:0000846	Adrenal insufficiency
7490	WT1	HP:0000815	Hypergonadotropic hypogonadism
7490	WT1	HP:0000813	Bicornuate uterus
7490	WT1	HP:0000812	Abnormal internal genitalia
7490	WT1	HP:0000822	Hypertension
7490	WT1	HP:0000823	Delayed puberty
7490	WT1	HP:0040030	Chorioretinal hypopigmentation
7490	WT1	HP:0011565	Common atrium
7490	WT1	HP:0003270	Abdominal distention
7490	WT1	HP:0003251	Male infertility
7490	WT1	HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex
7490	WT1	HP:0011626	Scimitar anomaly
7490	WT1	HP:0000969	Edema
7490	WT1	HP:0000939	Osteoporosis
7490	WT1	HP:0100242	Sarcoma
7490	WT1	HP:0040171	Decreased serum testosterone concentration
7490	WT1	HP:0008053	Aplasia/Hypoplasia of the iris
7490	WT1	HP:0000286	Epicanthus
7490	WT1	HP:0000260	Wide anterior fontanel
7490	WT1	HP:0012244	Abnormal sex determination
7490	WT1	HP:0007759	Opacification of the corneal stroma
7490	WT1	HP:0007750	Hypoplasia of the fovea
7490	WT1	HP:0002896	Neoplasm of the liver
7490	WT1	HP:0000252	Microcephaly
7490	WT1	HP:0002894	Neoplasm of the pancreas
7490	WT1	HP:0000232	Everted lower lip vermilion
7490	WT1	HP:0030010	Hydrometrocolpos
7490	WT1	HP:0001522	Death in infancy
7490	WT1	HP:0001541	Ascites
7490	WT1	HP:0001513	Obesity
7490	WT1	HP:0031504	Foamy urine
7490	WT1	HP:0011027	Abnormal fallopian tube morphology
7490	WT1	HP:0001696	Situs inversus totalis
7490	WT1	HP:0000364	Hearing abnormality
7490	WT1	HP:0001669	Transposition of the great arteries
7490	WT1	HP:0001680	Coarctation of aorta
7490	WT1	HP:0000347	Micrognathia
7490	WT1	HP:0001650	Aortic valve stenosis
7490	WT1	HP:0001651	Dextrocardia
7490	WT1	HP:0001647	Bicuspid aortic valve
7490	WT1	HP:0001643	Patent ductus arteriosus
7490	WT1	HP:0001629	Ventricular septal defect
7490	WT1	HP:0001636	Tetralogy of Fallot
7490	WT1	HP:0001631	Atrial septal defect
7490	WT1	HP:0005301	Persistent left superior vena cava
7490	WT1	HP:0001710	Conotruncal defect
7490	WT1	HP:0000486	Strabismus
7490	WT1	HP:0001747	Accessory spleen
7490	WT1	HP:0001743	Abnormality of the spleen
7490	WT1	HP:0006703	Aplasia/Hypoplasia of the lungs
7490	WT1	HP:0000518	Cataract
7490	WT1	HP:0000526	Aniridia
7490	WT1	HP:0001824	Weight loss
7490	WT1	HP:0000508	Ptosis
7490	WT1	HP:0000505	Visual impairment
7490	WT1	HP:0000501	Glaucoma
7490	WT1	HP:0012579	Minimal change glomerulonephritis
7490	WT1	HP:0000577	Exotropia
7498	XDH	HP:0010934	Xanthinuria
7498	XDH	HP:0010933	Hyperxanthinemia
7498	XDH	HP:0000007	Autosomal recessive inheritance
7498	XDH	HP:0000126	Hydronephrosis
7498	XDH	HP:0003534	Reduced xanthine dehydrogenase level
7498	XDH	HP:0001939	Abnormality of metabolism/homeostasis
7498	XDH	HP:0000804	Xanthine nephrolithiasis
7498	XDH	HP:0003198	Myopathy
7498	XDH	HP:0012330	Pyelonephritis
7504	XK	HP:0001250	Seizure
7504	XK	HP:0001260	Dysarthria
7504	XK	HP:0012075	Personality disorder
7504	XK	HP:0012046	Areflexia of upper limbs
7504	XK	HP:0001332	Dystonia
7504	XK	HP:0001324	Muscle weakness
7504	XK	HP:0025435	Increased circulating lactate dehydrogenase concentration
7504	XK	HP:0001417	X-linked inheritance
7504	XK	HP:0002072	Chorea
7504	XK	HP:0030948	Elevated gamma-glutamyltransferase level
7504	XK	HP:0003438	Absent Achilles reflex
7504	XK	HP:0002197	Generalized-onset seizure
7504	XK	HP:0002240	Hepatomegaly
7504	XK	HP:0003581	Adult onset
7504	XK	HP:0007002	Motor axonal neuropathy
7504	XK	HP:0100660	Dyskinesia
7504	XK	HP:0020181	Reduced haptoglobin level
7504	XK	HP:0001927	Acanthocytosis
7504	XK	HP:0031956	Elevated circulating aspartate aminotransferase concentration
7504	XK	HP:0031964	Elevated circulating alanine aminotransferase concentration
7504	XK	HP:0006938	Impaired vibration sensation at ankles
7504	XK	HP:0000739	Anxiety
7504	XK	HP:0000716	Depression
7504	XK	HP:0003198	Myopathy
7504	XK	HP:0003236	Elevated circulating creatine kinase concentration
7504	XK	HP:0003201	Rhabdomyolysis
7504	XK	HP:0005110	Atrial fibrillation
7504	XK	HP:0001644	Dilated cardiomyopathy
7504	XK	HP:0001638	Cardiomyopathy
7504	XK	HP:0001744	Splenomegaly
7507	XPA	HP:0001268	Mental deterioration
7507	XPA	HP:0001250	Seizure
7507	XPA	HP:0001251	Ataxia
7507	XPA	HP:0001249	Intellectual disability
7507	XPA	HP:0001265	Hyporeflexia
7507	XPA	HP:0001266	Choreoathetosis
7507	XPA	HP:0001257	Spasticity
7507	XPA	HP:0008734	Decreased testicular size
7507	XPA	HP:0000028	Cryptorchidism
7507	XPA	HP:0002664	Neoplasm
7507	XPA	HP:0000007	Autosomal recessive inheritance
7507	XPA	HP:0001315	Reduced tendon reflexes
7507	XPA	HP:0000164	Abnormality of the dentition
7507	XPA	HP:0000135	Hypogonadism
7507	XPA	HP:0001480	Freckling
7507	XPA	HP:0002750	Delayed skeletal maturation
7507	XPA	HP:0003355	Aminoaciduria
7507	XPA	HP:0100543	Cognitive impairment
7507	XPA	HP:0002071	Abnormality of extrapyramidal motor function
7507	XPA	HP:0100585	Telangiectasia of the skin
7507	XPA	HP:0002120	Cerebral cortical atrophy
7507	XPA	HP:0010649	Flat nasal alae
7507	XPA	HP:0001053	Hypopigmented skin patches
7507	XPA	HP:0001059	Pterygium
7507	XPA	HP:0001034	Hypermelanotic macule
7507	XPA	HP:0001029	Poikiloderma
7507	XPA	HP:0002376	Developmental regression
7507	XPA	HP:0001009	Telangiectasia
7507	XPA	HP:0002353	EEG abnormality
7507	XPA	HP:0009830	Peripheral neuropathy
7507	XPA	HP:0001072	Thickened skin
7507	XPA	HP:0010783	Erythema
7507	XPA	HP:0009755	Ankyloblepharon
7507	XPA	HP:0003623	Neonatal onset
7507	XPA	HP:0003621	Juvenile onset
7507	XPA	HP:0006887	Intellectual disability, progressive
7507	XPA	HP:0000648	Optic atrophy
7507	XPA	HP:0000613	Photophobia
7507	XPA	HP:0001945	Fever
7507	XPA	HP:0000621	Entropion
7507	XPA	HP:0000656	Ectropion
7507	XPA	HP:0004322	Short stature
7507	XPA	HP:0004334	Dermal atrophy
7507	XPA	HP:0003079	Defective DNA repair after ultraviolet radiation damage
7507	XPA	HP:0100012	Neoplasm of the eye
7507	XPA	HP:0012733	Macule
7507	XPA	HP:0012740	Papilloma
7507	XPA	HP:0034275	Verrucous epidermal nevus
7507	XPA	HP:0004493	Craniofacial hyperostosis
7507	XPA	HP:0000995	Melanocytic nevus
7507	XPA	HP:0000992	Cutaneous photosensitivity
7507	XPA	HP:0000958	Dry skin
7507	XPA	HP:0000963	Thin skin
7507	XPA	HP:0000962	Hyperkeratosis
7507	XPA	HP:0001596	Alopecia
7507	XPA	HP:0007759	Opacification of the corneal stroma
7507	XPA	HP:0002829	Arthralgia
7507	XPA	HP:0000252	Microcephaly
7507	XPA	HP:0002861	Melanoma
7507	XPA	HP:0001508	Failure to thrive
7507	XPA	HP:0012378	Fatigue
7507	XPA	HP:0002936	Distal sensory impairment
7507	XPA	HP:0000365	Hearing impairment
7507	XPA	HP:0000498	Blepharitis
7507	XPA	HP:0000407	Sensorineural hearing impairment
7507	XPA	HP:0000486	Strabismus
7507	XPA	HP:0000491	Keratitis
7507	XPA	HP:0001761	Pes cavus
7507	XPA	HP:0006739	Squamous cell carcinoma of the skin
7507	XPA	HP:0000518	Cataract
7507	XPA	HP:0000524	Conjunctival telangiectasia
7507	XPA	HP:0000509	Conjunctivitis
7507	XPA	HP:0030350	Erythematous papule
7508	XPC	HP:0025127	Actinic keratosis
7508	XPC	HP:0001250	Seizure
7508	XPC	HP:0001251	Ataxia
7508	XPC	HP:0001257	Spasticity
7508	XPC	HP:0008734	Decreased testicular size
7508	XPC	HP:0012056	Cutaneous melanoma
7508	XPC	HP:0000028	Cryptorchidism
7508	XPC	HP:0002664	Neoplasm
7508	XPC	HP:0002671	Basal cell carcinoma
7508	XPC	HP:0000007	Autosomal recessive inheritance
7508	XPC	HP:0001315	Reduced tendon reflexes
7508	XPC	HP:0000164	Abnormality of the dentition
7508	XPC	HP:0000135	Hypogonadism
7508	XPC	HP:0001480	Freckling
7508	XPC	HP:0002750	Delayed skeletal maturation
7508	XPC	HP:0003355	Aminoaciduria
7508	XPC	HP:0100543	Cognitive impairment
7508	XPC	HP:0002071	Abnormality of extrapyramidal motor function
7508	XPC	HP:0100585	Telangiectasia of the skin
7508	XPC	HP:0002120	Cerebral cortical atrophy
7508	XPC	HP:0010649	Flat nasal alae
7508	XPC	HP:0001053	Hypopigmented skin patches
7508	XPC	HP:0001059	Pterygium
7508	XPC	HP:0001034	Hypermelanotic macule
7508	XPC	HP:0001029	Poikiloderma
7508	XPC	HP:0002376	Developmental regression
7508	XPC	HP:0001010	Hypopigmentation of the skin
7508	XPC	HP:0001009	Telangiectasia
7508	XPC	HP:0002353	EEG abnormality
7508	XPC	HP:0009830	Peripheral neuropathy
7508	XPC	HP:0001072	Thickened skin
7508	XPC	HP:0010783	Erythema
7508	XPC	HP:0009755	Ankyloblepharon
7508	XPC	HP:0006887	Intellectual disability, progressive
7508	XPC	HP:0000648	Optic atrophy
7508	XPC	HP:0000613	Photophobia
7508	XPC	HP:0001945	Fever
7508	XPC	HP:0000621	Entropion
7508	XPC	HP:0000656	Ectropion
7508	XPC	HP:0004322	Short stature
7508	XPC	HP:0004334	Dermal atrophy
7508	XPC	HP:0003079	Defective DNA repair after ultraviolet radiation damage
7508	XPC	HP:0100012	Neoplasm of the eye
7508	XPC	HP:0012733	Macule
7508	XPC	HP:0012740	Papilloma
7508	XPC	HP:0011463	Childhood onset
7508	XPC	HP:0004493	Craniofacial hyperostosis
7508	XPC	HP:0000995	Melanocytic nevus
7508	XPC	HP:0000992	Cutaneous photosensitivity
7508	XPC	HP:0000958	Dry skin
7508	XPC	HP:0000963	Thin skin
7508	XPC	HP:0000962	Hyperkeratosis
7508	XPC	HP:0001596	Alopecia
7508	XPC	HP:0007759	Opacification of the corneal stroma
7508	XPC	HP:0002829	Arthralgia
7508	XPC	HP:0000252	Microcephaly
7508	XPC	HP:0002861	Melanoma
7508	XPC	HP:0001508	Failure to thrive
7508	XPC	HP:0012378	Fatigue
7508	XPC	HP:0000365	Hearing impairment
7508	XPC	HP:0000498	Blepharitis
7508	XPC	HP:0000407	Sensorineural hearing impairment
7508	XPC	HP:0000486	Strabismus
7508	XPC	HP:0000491	Keratitis
7508	XPC	HP:0006739	Squamous cell carcinoma of the skin
7508	XPC	HP:0000518	Cataract
7508	XPC	HP:0000524	Conjunctival telangiectasia
7508	XPC	HP:0000509	Conjunctivitis
7512	XPNPEP2	HP:0012027	Laryngeal edema
7512	XPNPEP2	HP:0002781	Upper airway obstruction
7512	XPNPEP2	HP:0031244	Swollen lip
7512	XPNPEP2	HP:0040315	Tongue edema
7512	XPNPEP2	HP:0100540	Palpebral edema
7512	XPNPEP2	HP:0002098	Respiratory distress
7512	XPNPEP2	HP:0011855	Pharyngeal edema
7512	XPNPEP2	HP:0025018	Abnormal capillary physiology
7512	XPNPEP2	HP:0001025	Urticaria
7512	XPNPEP2	HP:0100665	Angioedema
7512	XPNPEP2	HP:0010783	Erythema
7512	XPNPEP2	HP:0000989	Pruritus
7512	XPNPEP2	HP:0000282	Facial edema
7515	XRCC1	HP:0001152	Saccadic smooth pursuit
7515	XRCC1	HP:0002460	Distal muscle weakness
7515	XRCC1	HP:0002403	Positive Romberg sign
7515	XRCC1	HP:0001272	Cerebellar atrophy
7515	XRCC1	HP:0001284	Areflexia
7515	XRCC1	HP:0001260	Dysarthria
7515	XRCC1	HP:0007338	Hypermetric saccades
7515	XRCC1	HP:0000007	Autosomal recessive inheritance
7515	XRCC1	HP:0001310	Dysmetria
7515	XRCC1	HP:0002015	Dysphagia
7515	XRCC1	HP:0002066	Gait ataxia
7515	XRCC1	HP:0002075	Dysdiadochokinesis
7515	XRCC1	HP:0002070	Limb ataxia
7515	XRCC1	HP:0003676	Progressive
7515	XRCC1	HP:0002317	Unsteady gait
7515	XRCC1	HP:0007141	Sensorimotor neuropathy
7515	XRCC1	HP:0006858	Impaired distal proprioception
7515	XRCC1	HP:0006886	Impaired distal vibration sensation
7515	XRCC1	HP:0000657	Oculomotor apraxia
7515	XRCC1	HP:0000666	Horizontal nystagmus
7515	XRCC1	HP:0025710	Late young adult onset
7516	XRCC2	HP:0001172	Abnormal thumb morphology
7516	XRCC2	HP:0001199	Triphalangeal thumb
7516	XRCC2	HP:0008572	External ear malformation
7516	XRCC2	HP:0002414	Spina bifida
7516	XRCC2	HP:0001249	Intellectual disability
7516	XRCC2	HP:0001263	Global developmental delay
7516	XRCC2	HP:0002575	Tracheoesophageal fistula
7516	XRCC2	HP:0006101	Finger syndactyly
7516	XRCC2	HP:0007400	Irregular hyperpigmentation
7516	XRCC2	HP:0008734	Decreased testicular size
7516	XRCC2	HP:0100867	Duodenal stenosis
7516	XRCC2	HP:0031038	Spermatogenesis maturation arrest
7516	XRCC2	HP:0008678	Renal hypoplasia/aplasia
7516	XRCC2	HP:0008669	Abnormal spermatogenesis
7516	XRCC2	HP:0000083	Renal insufficiency
7516	XRCC2	HP:0000086	Ectopic kidney
7516	XRCC2	HP:0001392	Abnormality of the liver
7516	XRCC2	HP:0000079	Abnormality of the urinary system
7516	XRCC2	HP:0000072	Hydroureter
7516	XRCC2	HP:0012041	Decreased fertility in males
7516	XRCC2	HP:0000047	Hypospadias
7516	XRCC2	HP:0001347	Hyperreflexia
7516	XRCC2	HP:0000035	Abnormal testis morphology
7516	XRCC2	HP:0000028	Cryptorchidism
7516	XRCC2	HP:0000027	Azoospermia
7516	XRCC2	HP:0007565	Multiple cafe-au-lait spots
7516	XRCC2	HP:0002664	Neoplasm
7516	XRCC2	HP:0000010	Recurrent urinary tract infections
7516	XRCC2	HP:0000007	Autosomal recessive inheritance
7516	XRCC2	HP:0002650	Scoliosis
7516	XRCC2	HP:0003974	Absent radius
7516	XRCC2	HP:0031100	Decreased inhibin B level
7516	XRCC2	HP:0031103	Decreased cirrculating antimullerian hormone circulation
7516	XRCC2	HP:0000175	Cleft palate
7516	XRCC2	HP:0000135	Hypogonadism
7516	XRCC2	HP:0006265	Aplasia/Hypoplasia of fingers
7516	XRCC2	HP:0000118	Phenotypic abnormality
7516	XRCC2	HP:0000130	Abnormality of the uterus
7516	XRCC2	HP:0002023	Anal atresia
7516	XRCC2	HP:0002007	Frontal bossing
7516	XRCC2	HP:0100542	Abnormal localization of kidney
7516	XRCC2	HP:0100587	Abnormal preputium morphology
7516	XRCC2	HP:0010469	Absent testis
7516	XRCC2	HP:0002119	Ventriculomegaly
7516	XRCC2	HP:0008232	Elevated circulating follicle stimulating hormone level
7516	XRCC2	HP:0008209	Premature ovarian insufficiency
7516	XRCC2	HP:0008214	Decreased serum estradiol
7516	XRCC2	HP:0011835	Absent scaphoid
7516	XRCC2	HP:0002245	Meckel diverticulum
7516	XRCC2	HP:0003577	Congenital onset
7516	XRCC2	HP:0002251	Aganglionic megacolon
7516	XRCC2	HP:0100760	Clubbing of toes
7516	XRCC2	HP:0011969	Elevated circulating luteinizing hormone level
7516	XRCC2	HP:0011961	Non-obstructive azoospermia
7516	XRCC2	HP:0011962	Obstructive azoospermia
7516	XRCC2	HP:0001053	Hypopigmented skin patches
7516	XRCC2	HP:0001000	Abnormality of skin pigmentation
7516	XRCC2	HP:0009777	Absent thumb
7516	XRCC2	HP:0004209	Clinodactyly of the 5th finger
7516	XRCC2	HP:0005522	Pyridoxine-responsive sideroblastic anemia
7516	XRCC2	HP:0006824	Cranial nerve paralysis
7516	XRCC2	HP:0000639	Nystagmus
7516	XRCC2	HP:0001903	Anemia
7516	XRCC2	HP:0010035	Aplasia of the 1st metacarpal
7516	XRCC2	HP:0012639	Abnormal nervous system morphology
7516	XRCC2	HP:0004322	Short stature
7516	XRCC2	HP:0003022	Hypoplasia of the ulna
7516	XRCC2	HP:0004349	Reduced bone mineral density
7516	XRCC2	HP:0012745	Short palpebral fissure
7516	XRCC2	HP:0100026	Arteriovenous malformation
7516	XRCC2	HP:0012799	Unilateral facial palsy
7516	XRCC2	HP:0011462	Young adult onset
7516	XRCC2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
7516	XRCC2	HP:0000837	Increased circulating gonadotropin level
7516	XRCC2	HP:0000813	Bicornuate uterus
7516	XRCC2	HP:0010293	Aplasia/Hypoplasia of the uvula
7516	XRCC2	HP:0040012	Chromosome breakage
7516	XRCC2	HP:0040071	Abnormal morphology of ulna
7516	XRCC2	HP:0003220	Abnormality of chromosome stability
7516	XRCC2	HP:0003251	Male infertility
7516	XRCC2	HP:0008053	Aplasia/Hypoplasia of the iris
7516	XRCC2	HP:0000286	Epicanthus
7516	XRCC2	HP:0000268	Dolichocephaly
7516	XRCC2	HP:0002817	Abnormality of the upper limb
7516	XRCC2	HP:0002827	Hip dislocation
7516	XRCC2	HP:0002823	Abnormality of femur morphology
7516	XRCC2	HP:0000238	Hydrocephalus
7516	XRCC2	HP:0000252	Microcephaly
7516	XRCC2	HP:0012210	Abnormal renal morphology
7516	XRCC2	HP:0000218	High palate
7516	XRCC2	HP:0001562	Oligohydramnios
7516	XRCC2	HP:0001537	Umbilical hernia
7516	XRCC2	HP:0002863	Myelodysplasia
7516	XRCC2	HP:0001511	Intrauterine growth retardation
7516	XRCC2	HP:0001510	Growth delay
7516	XRCC2	HP:0006501	Aplasia/Hypoplasia of the radius
7516	XRCC2	HP:0007874	Almond-shaped palpebral fissure
7516	XRCC2	HP:0000365	Hearing impairment
7516	XRCC2	HP:0000364	Hearing abnormality
7516	XRCC2	HP:0001671	Abnormal cardiac septum morphology
7516	XRCC2	HP:0000340	Sloping forehead
7516	XRCC2	HP:0001679	Abnormal aortic morphology
7516	XRCC2	HP:0000347	Micrognathia
7516	XRCC2	HP:0000316	Hypertelorism
7516	XRCC2	HP:0001646	Abnormal aortic valve morphology
7516	XRCC2	HP:0001643	Patent ductus arteriosus
7516	XRCC2	HP:0002984	Hypoplasia of the radius
7516	XRCC2	HP:0000324	Facial asymmetry
7516	XRCC2	HP:0001639	Hypertrophic cardiomyopathy
7516	XRCC2	HP:0001636	Tetralogy of Fallot
7516	XRCC2	HP:0001631	Atrial septal defect
7516	XRCC2	HP:0005344	Abnormal carotid artery morphology
7516	XRCC2	HP:0000483	Astigmatism
7516	XRCC2	HP:0000486	Strabismus
7516	XRCC2	HP:0000478	Abnormality of the eye
7516	XRCC2	HP:0000492	Abnormal eyelid morphology
7516	XRCC2	HP:0001770	Toe syndactyly
7516	XRCC2	HP:0001763	Pes planus
7516	XRCC2	HP:0000453	Choanal atresia
7516	XRCC2	HP:0001760	Abnormal foot morphology
7516	XRCC2	HP:0000518	Cataract
7516	XRCC2	HP:0000520	Proptosis
7516	XRCC2	HP:0001824	Weight loss
7516	XRCC2	HP:0000508	Ptosis
7516	XRCC2	HP:0000505	Visual impairment
7516	XRCC2	HP:0000504	Abnormality of vision
7516	XRCC2	HP:0000582	Upslanted palpebral fissure
7516	XRCC2	HP:0000568	Microphthalmia
7516	XRCC2	HP:0001871	Abnormality of blood and blood-forming tissues
7516	XRCC2	HP:0001882	Leukopenia
7516	XRCC2	HP:0001873	Thrombocytopenia
7517	XRCC3	HP:0000006	Autosomal dominant inheritance
7517	XRCC3	HP:0001428	Somatic mutation
7517	XRCC3	HP:0003002	Breast carcinoma
7518	XRCC4	HP:0002488	Acute leukemia
7518	XRCC4	HP:0009879	Simplified gyral pattern
7518	XRCC4	HP:0001288	Gait disturbance
7518	XRCC4	HP:0001251	Ataxia
7518	XRCC4	HP:0001249	Intellectual disability
7518	XRCC4	HP:0001260	Dysarthria
7518	XRCC4	HP:0001263	Global developmental delay
7518	XRCC4	HP:0008736	Hypoplasia of penis
7518	XRCC4	HP:0000089	Renal hypoplasia
7518	XRCC4	HP:0000086	Ectopic kidney
7518	XRCC4	HP:0001397	Hepatic steatosis
7518	XRCC4	HP:0000054	Micropenis
7518	XRCC4	HP:0000023	Inguinal hernia
7518	XRCC4	HP:0000028	Cryptorchidism
7518	XRCC4	HP:0008890	Severe short-limb dwarfism
7518	XRCC4	HP:0008873	Disproportionate short-limb short stature
7518	XRCC4	HP:0000007	Autosomal recessive inheritance
7518	XRCC4	HP:0002665	Lymphoma
7518	XRCC4	HP:0001310	Dysmetria
7518	XRCC4	HP:0000122	Unilateral renal agenesis
7518	XRCC4	HP:0002716	Lymphadenopathy
7518	XRCC4	HP:0002721	Immunodeficiency
7518	XRCC4	HP:0002024	Malabsorption
7518	XRCC4	HP:0005978	Type II diabetes mellitus
7518	XRCC4	HP:0100543	Cognitive impairment
7518	XRCC4	HP:0003390	Sensory axonal neuropathy
7518	XRCC4	HP:0002075	Dysdiadochokinesis
7518	XRCC4	HP:0100585	Telangiectasia of the skin
7518	XRCC4	HP:0008193	Primary gonadal insufficiency
7518	XRCC4	HP:0002155	Hypertriglyceridemia
7518	XRCC4	HP:0002119	Ventriculomegaly
7518	XRCC4	HP:0002136	Broad-based gait
7518	XRCC4	HP:0002186	Apraxia
7518	XRCC4	HP:0002240	Hepatomegaly
7518	XRCC4	HP:0010620	Malar prominence
7518	XRCC4	HP:0009826	Limb undergrowth
7518	XRCC4	HP:0010783	Erythema
7518	XRCC4	HP:0004209	Clinodactyly of the 5th finger
7518	XRCC4	HP:0006855	Cerebellar vermis atrophy
7518	XRCC4	HP:0005561	Abnormality of bone marrow cell morphology
7518	XRCC4	HP:0000639	Nystagmus
7518	XRCC4	HP:0001974	Leukocytosis
7518	XRCC4	HP:0001956	Truncal obesity
7518	XRCC4	HP:0000601	Hypotelorism
7518	XRCC4	HP:0001903	Anemia
7518	XRCC4	HP:0000692	Tooth malposition
7518	XRCC4	HP:0004322	Short stature
7518	XRCC4	HP:0000763	Sensory neuropathy
7518	XRCC4	HP:0000750	Delayed speech and language development
7518	XRCC4	HP:0003119	Abnormal circulating lipid concentration
7518	XRCC4	HP:0004422	Biparietal narrowing
7518	XRCC4	HP:0004430	Severe combined immunodeficiency
7518	XRCC4	HP:0000924	Abnormality of the skeletal system
7518	XRCC4	HP:0003189	Long nose
7518	XRCC4	HP:0000855	Insulin resistance
7518	XRCC4	HP:0000831	Insulin-resistant diabetes mellitus
7518	XRCC4	HP:0000819	Diabetes mellitus
7518	XRCC4	HP:0000821	Hypothyroidism
7518	XRCC4	HP:0003220	Abnormality of chromosome stability
7518	XRCC4	HP:0000992	Cutaneous photosensitivity
7518	XRCC4	HP:0000956	Acanthosis nigricans
7518	XRCC4	HP:0008070	Sparse hair
7518	XRCC4	HP:0000286	Epicanthus
7518	XRCC4	HP:0000294	Low anterior hairline
7518	XRCC4	HP:0000276	Long face
7518	XRCC4	HP:0007772	Impaired smooth pursuit
7518	XRCC4	HP:0030084	Clinodactyly
7518	XRCC4	HP:0000252	Microcephaly
7518	XRCC4	HP:0000248	Brachycephaly
7518	XRCC4	HP:0000233	Thin vermilion border
7518	XRCC4	HP:0001511	Intrauterine growth retardation
7518	XRCC4	HP:0001510	Growth delay
7518	XRCC4	HP:0007875	Congenital blindness
7518	XRCC4	HP:0000340	Sloping forehead
7518	XRCC4	HP:0000348	High forehead
7518	XRCC4	HP:0000347	Micrognathia
7518	XRCC4	HP:0000320	Bird-like facies
7518	XRCC4	HP:0001644	Dilated cardiomyopathy
7518	XRCC4	HP:0000331	Short chin
7518	XRCC4	HP:0000325	Triangular face
7518	XRCC4	HP:0001620	High pitched voice
7518	XRCC4	HP:0000407	Sensorineural hearing impairment
7518	XRCC4	HP:0000490	Deeply set eye
7518	XRCC4	HP:0000455	Broad nasal tip
7518	XRCC4	HP:0000444	Convex nasal ridge
7518	XRCC4	HP:0000431	Wide nasal bridge
7518	XRCC4	HP:0001761	Pes cavus
7518	XRCC4	HP:0000426	Prominent nasal bridge
7518	XRCC4	HP:0000518	Cataract
7518	XRCC4	HP:0000506	Telecanthus
7518	XRCC4	HP:0000582	Upslanted palpebral fissure
7518	XRCC4	HP:0001888	Lymphopenia
7518	XRCC4	HP:0000541	Retinal detachment
7518	XRCC4	HP:0001876	Pancytopenia
7528	YY1	HP:0002494	Abnormal rapid eye movement sleep
7528	YY1	HP:0020206	Simple ear
7528	YY1	HP:0010864	Intellectual disability, severe
7528	YY1	HP:0100807	Long fingers
7528	YY1	HP:0001274	Agenesis of corpus callosum
7528	YY1	HP:0001270	Motor delay
7528	YY1	HP:0001254	Lethargy
7528	YY1	HP:0001256	Intellectual disability, mild
7528	YY1	HP:0001250	Seizure
7528	YY1	HP:0001252	Hypotonia
7528	YY1	HP:0001249	Intellectual disability
7528	YY1	HP:0002591	Polyphagia
7528	YY1	HP:0001263	Global developmental delay
7528	YY1	HP:0001259	Coma
7528	YY1	HP:0002539	Cortical dysplasia
7528	YY1	HP:0002515	Waddling gait
7528	YY1	HP:0002500	Abnormal cerebral white matter morphology
7528	YY1	HP:0006094	Finger joint hypermobility
7528	YY1	HP:0012051	Reactive hypoglycemia
7528	YY1	HP:0000074	Ureteropelvic junction obstruction
7528	YY1	HP:0001363	Craniosynostosis
7528	YY1	HP:0000028	Cryptorchidism
7528	YY1	HP:0008872	Feeding difficulties in infancy
7528	YY1	HP:0001332	Dystonia
7528	YY1	HP:0001344	Absent speech
7528	YY1	HP:0001337	Tremor
7528	YY1	HP:0000006	Autosomal dominant inheritance
7528	YY1	HP:0000179	Thick lower lip vermilion
7528	YY1	HP:0000164	Abnormality of the dentition
7528	YY1	HP:0007678	Lacrimal duct stenosis
7528	YY1	HP:0008944	Distal lower limb amyotrophy
7528	YY1	HP:0000126	Hydronephrosis
7528	YY1	HP:0002719	Recurrent infections
7528	YY1	HP:0002032	Esophageal atresia
7528	YY1	HP:0003324	Generalized muscle weakness
7528	YY1	HP:0002079	Hypoplasia of the corpus callosum
7528	YY1	HP:0002044	Zollinger-Ellison syndrome
7528	YY1	HP:0010499	Patellar subluxation
7528	YY1	HP:0002119	Ventriculomegaly
7528	YY1	HP:0002188	Delayed CNS myelination
7528	YY1	HP:0002171	Gliosis
7528	YY1	HP:0010534	Transient global amnesia
7528	YY1	HP:0008200	Primary hyperparathyroidism
7528	YY1	HP:0003401	Paresthesia
7528	YY1	HP:0008283	Fasting hyperinsulinemia
7528	YY1	HP:0003577	Congenital onset
7528	YY1	HP:0002236	Frontal upsweep of hair
7528	YY1	HP:0100785	Insomnia
7528	YY1	HP:0200136	Oral-pharyngeal dysphagia
7528	YY1	HP:0007018	Attention deficit hyperactivity disorder
7528	YY1	HP:0011968	Feeding difficulties
7528	YY1	HP:0002360	Sleep disturbance
7528	YY1	HP:0002342	Intellectual disability, moderate
7528	YY1	HP:0010832	Abnormality of pain sensation
7528	YY1	HP:0100634	Neuroendocrine neoplasm
7528	YY1	HP:0100631	Neoplasm of the adrenal gland
7528	YY1	HP:0007159	Fluctuations in consciousness
7528	YY1	HP:0031834	Aortopulmonary collateral arteries
7528	YY1	HP:0001962	Palpitations
7528	YY1	HP:0001958	Nonketotic hypoglycemia
7528	YY1	HP:0000629	Periorbital fullness
7528	YY1	HP:0011344	Severe global developmental delay
7528	YY1	HP:0011339	Abnormality of upper lip vermillion
7528	YY1	HP:0011311	Sydney crease
7528	YY1	HP:0001988	Recurrent hypoglycemia
7528	YY1	HP:0001999	Abnormal facial shape
7528	YY1	HP:0004324	Increased body weight
7528	YY1	HP:0006956	Lateral ventricle dilatation
7528	YY1	HP:0004372	Reduced consciousness/confusion
7528	YY1	HP:0003006	Neuroblastoma
7528	YY1	HP:0031936	Delayed ability to walk
7528	YY1	HP:0005684	Distal arthrogryposis
7528	YY1	HP:0000739	Anxiety
7528	YY1	HP:0000750	Delayed speech and language development
7528	YY1	HP:0000717	Autism
7528	YY1	HP:0000729	Autistic behavior
7528	YY1	HP:0000708	Atypical behavior
7528	YY1	HP:0011471	Gastrostomy tube feeding in infancy
7528	YY1	HP:0011446	Abnormality of higher mental function
7528	YY1	HP:0003187	Breast hypoplasia
7528	YY1	HP:0000842	Hyperinsulinemia
7528	YY1	HP:0000825	Hyperinsulinemic hypoglycemia
7528	YY1	HP:0000821	Hypothyroidism
7528	YY1	HP:0000824	Decreased response to growth hormone stimulation test
7528	YY1	HP:0045075	Sparse eyebrow
7528	YY1	HP:0010316	Ebstein anomaly of the tricuspid valve
7528	YY1	HP:0000975	Hyperhidrosis
7528	YY1	HP:0000974	Hyperextensible skin
7528	YY1	HP:0000297	Facial hypotonia
7528	YY1	HP:0000272	Malar flattening
7528	YY1	HP:0000268	Dolichocephaly
7528	YY1	HP:0006476	Abnormality of the pancreatic islet cells
7528	YY1	HP:0000218	High palate
7528	YY1	HP:0000201	Pierre-Robin sequence
7528	YY1	HP:0001518	Small for gestational age
7528	YY1	HP:0030051	Tip-toe gait
7528	YY1	HP:0001511	Intrauterine growth retardation
7528	YY1	HP:0012378	Fatigue
7528	YY1	HP:0000364	Hearing abnormality
7528	YY1	HP:0000358	Posteriorly rotated ears
7528	YY1	HP:0000369	Low-set ears
7528	YY1	HP:0000337	Broad forehead
7528	YY1	HP:0002999	Patellar dislocation
7528	YY1	HP:0000347	Micrognathia
7528	YY1	HP:0000324	Facial asymmetry
7528	YY1	HP:0001655	Patent foramen ovale
7528	YY1	HP:0000307	Pointed chin
7528	YY1	HP:0000483	Astigmatism
7528	YY1	HP:0000486	Strabismus
7528	YY1	HP:0000494	Downslanted palpebral fissures
7528	YY1	HP:0012448	Delayed myelination
7528	YY1	HP:0000455	Broad nasal tip
7528	YY1	HP:0000414	Bulbous nose
7528	YY1	HP:0006767	Pituitary prolactin cell adenoma
7528	YY1	HP:0001852	Sandal gap
7528	YY1	HP:0001822	Hallux valgus
7528	YY1	HP:0000506	Telecanthus
7528	YY1	HP:0000508	Ptosis
7528	YY1	HP:0000504	Abnormality of vision
7528	YY1	HP:0011225	Epiblepharon
7528	YY1	HP:0000540	Hypermetropia
7531	YWHAE	HP:0001250	Seizure
7531	YWHAE	HP:0001252	Hypotonia
7531	YWHAE	HP:0001251	Ataxia
7531	YWHAE	HP:0001263	Global developmental delay
7531	YWHAE	HP:0008736	Hypoplasia of penis
7531	YWHAE	HP:0000098	Tall stature
7531	YWHAE	HP:0001374	Congenital hip dislocation
7531	YWHAE	HP:0000023	Inguinal hernia
7531	YWHAE	HP:0001339	Lissencephaly
7531	YWHAE	HP:0000160	Narrow mouth
7531	YWHAE	HP:0000177	Abnormal upper lip morphology
7531	YWHAE	HP:0000112	Nephropathy
7531	YWHAE	HP:0002007	Frontal bossing
7531	YWHAE	HP:0002079	Hypoplasia of the corpus callosum
7531	YWHAE	HP:0002120	Cerebral cortical atrophy
7531	YWHAE	HP:0002119	Ventriculomegaly
7531	YWHAE	HP:0002353	EEG abnormality
7531	YWHAE	HP:0004209	Clinodactyly of the 5th finger
7531	YWHAE	HP:0003196	Short nose
7531	YWHAE	HP:0000960	Sacral dimple
7531	YWHAE	HP:0000286	Epicanthus
7531	YWHAE	HP:0000218	High palate
7531	YWHAE	HP:0001561	Polyhydramnios
7531	YWHAE	HP:0001539	Omphalocele
7531	YWHAE	HP:0001510	Growth delay
7531	YWHAE	HP:0000369	Low-set ears
7531	YWHAE	HP:0000348	High forehead
7531	YWHAE	HP:0000316	Hypertelorism
7531	YWHAE	HP:0001626	Abnormality of the cardiovascular system
7531	YWHAE	HP:0000494	Downslanted palpebral fissures
7531	YWHAE	HP:0000463	Anteverted nares
7531	YWHAE	HP:0000470	Short neck
7531	YWHAE	HP:0000445	Wide nose
7532	YWHAG	HP:0002421	Poor head control
7532	YWHAG	HP:0001298	Encephalopathy
7532	YWHAG	HP:0001290	Generalized hypotonia
7532	YWHAG	HP:0001273	Abnormal corpus callosum morphology
7532	YWHAG	HP:0001268	Mental deterioration
7532	YWHAG	HP:0001250	Seizure
7532	YWHAG	HP:0001252	Hypotonia
7532	YWHAG	HP:0001251	Ataxia
7532	YWHAG	HP:0001249	Intellectual disability
7532	YWHAG	HP:0001265	Hyporeflexia
7532	YWHAG	HP:0001263	Global developmental delay
7532	YWHAG	HP:0001257	Spasticity
7532	YWHAG	HP:0008770	Obsessive-compulsive trait
7532	YWHAG	HP:0002521	Hypsarrhythmia
7532	YWHAG	HP:0002509	Limb hypertonia
7532	YWHAG	HP:0001388	Joint laxity
7532	YWHAG	HP:0001337	Tremor
7532	YWHAG	HP:0000006	Autosomal dominant inheritance
7532	YWHAG	HP:0001336	Myoclonus
7532	YWHAG	HP:0002650	Scoliosis
7532	YWHAG	HP:0001315	Reduced tendon reflexes
7532	YWHAG	HP:0002020	Gastroesophageal reflux
7532	YWHAG	HP:0002063	Rigidity
7532	YWHAG	HP:0002059	Cerebral atrophy
7532	YWHAG	HP:0002121	Generalized non-motor (absence) seizure
7532	YWHAG	HP:0002136	Broad-based gait
7532	YWHAG	HP:0002133	Status epilepticus
7532	YWHAG	HP:0003593	Infantile onset
7532	YWHAG	HP:0100710	Impulsivity
7532	YWHAG	HP:0007018	Attention deficit hyperactivity disorder
7532	YWHAG	HP:0011968	Feeding difficulties
7532	YWHAG	HP:0002392	EEG with polyspike wave complexes
7532	YWHAG	HP:0002376	Developmental regression
7532	YWHAG	HP:0002370	Poor coordination
7532	YWHAG	HP:0002345	Action tremor
7532	YWHAG	HP:0002355	Difficulty walking
7532	YWHAG	HP:0002353	EEG abnormality
7532	YWHAG	HP:0002317	Unsteady gait
7532	YWHAG	HP:0010844	EEG with multifocal slow activity
7532	YWHAG	HP:0100660	Dyskinesia
7532	YWHAG	HP:0000639	Nystagmus
7532	YWHAG	HP:0000648	Optic atrophy
7532	YWHAG	HP:0000668	Hypodontia
7532	YWHAG	HP:0004322	Short stature
7532	YWHAG	HP:0004305	Involuntary movements
7532	YWHAG	HP:0000739	Anxiety
7532	YWHAG	HP:0000750	Delayed speech and language development
7532	YWHAG	HP:0000717	Autism
7532	YWHAG	HP:0000708	Atypical behavior
7532	YWHAG	HP:0011443	Abnormality of coordination
7532	YWHAG	HP:0000252	Microcephaly
7532	YWHAG	HP:0001558	Decreased fetal movement
7532	YWHAG	HP:0001508	Failure to thrive
7532	YWHAG	HP:0000348	High forehead
7532	YWHAG	HP:0032794	Myoclonic seizure
7532	YWHAG	HP:0011153	Focal motor seizure
7532	YWHAG	HP:0000494	Downslanted palpebral fissures
7532	YWHAG	HP:0012444	Brain atrophy
7532	YWHAG	HP:0012447	Abnormal myelination
7532	YWHAG	HP:0000508	Ptosis
7532	YWHAG	HP:0000504	Abnormality of vision
7532	YWHAG	HP:0012547	Abnormal involuntary eye movements
7532	YWHAG	HP:0000546	Retinal degeneration
7535	ZAP70	HP:0001297	Stroke
7535	ZAP70	HP:0100827	Lymphocytosis
7535	ZAP70	HP:0002583	Colitis
7535	ZAP70	HP:0010975	Abnormal B cell count
7535	ZAP70	HP:0000093	Proteinuria
7535	ZAP70	HP:0000007	Autosomal recessive inheritance
7535	ZAP70	HP:0002665	Lymphoma
7535	ZAP70	HP:0031266	Podocyte foot process effacement
7535	ZAP70	HP:0000100	Nephrotic syndrome
7535	ZAP70	HP:0001433	Hepatosplenomegaly
7535	ZAP70	HP:0002733	Abnormal lymph node morphology
7535	ZAP70	HP:0002718	Recurrent bacterial infections
7535	ZAP70	HP:0002716	Lymphadenopathy
7535	ZAP70	HP:0002728	Chronic mucocutaneous candidiasis
7535	ZAP70	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
7535	ZAP70	HP:0002028	Chronic diarrhea
7535	ZAP70	HP:0002014	Diarrhea
7535	ZAP70	HP:0002090	Pneumonia
7535	ZAP70	HP:0004798	Recurrent infection of the gastrointestinal tract
7535	ZAP70	HP:0033221	Increased CD4:CD8 ratio
7535	ZAP70	HP:0003593	Infantile onset
7535	ZAP70	HP:0002240	Hepatomegaly
7535	ZAP70	HP:0002205	Recurrent respiratory infections
7535	ZAP70	HP:0200117	Recurrent upper and lower respiratory tract infections
7535	ZAP70	HP:0005523	Lymphoproliferative disorder
7535	ZAP70	HP:0009098	Chronic oral candidiasis
7535	ZAP70	HP:0001973	Autoimmune thrombocytopenia
7535	ZAP70	HP:0004429	Recurrent viral infections
7535	ZAP70	HP:0003139	Panhypogammaglobulinemia
7535	ZAP70	HP:0010280	Stomatitis
7535	ZAP70	HP:0040089	Abnormal natural killer cell count
7535	ZAP70	HP:0000976	Eczematoid dermatitis
7535	ZAP70	HP:0000988	Skin rash
7535	ZAP70	HP:0002840	Lymphadenitis
7535	ZAP70	HP:0001508	Failure to thrive
7535	ZAP70	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
7535	ZAP70	HP:0002960	Autoimmunity
7535	ZAP70	HP:0031540	Linear IgG deposits along the epidermal basement membrane zone
7535	ZAP70	HP:0012476	Decreased specific pneumococcal antibody level
7535	ZAP70	HP:0001744	Splenomegaly
7535	ZAP70	HP:0005406	Recurrent bacterial skin infections
7535	ZAP70	HP:0005422	Absence of CD8-positive T cells
7535	ZAP70	HP:0005415	Decreased proportion of CD8-positive T cells
7535	ZAP70	HP:0005401	Recurrent candida infections
7535	ZAP70	HP:0011274	Recurrent mycobacterial infections
7535	ZAP70	HP:0005390	Recurrent opportunistic infections
7535	ZAP70	HP:0012579	Minimal change glomerulonephritis
7535	ZAP70	HP:0001890	Autoimmune hemolytic anemia
7535	ZAP70	HP:0001880	Eosinophilia
7545	ZIC1	HP:0001156	Brachydactyly
7545	ZIC1	HP:0009891	Underdeveloped supraorbital ridges
7545	ZIC1	HP:0001272	Cerebellar atrophy
7545	ZIC1	HP:0001274	Agenesis of corpus callosum
7545	ZIC1	HP:0001252	Hypotonia
7545	ZIC1	HP:0001249	Intellectual disability
7545	ZIC1	HP:0001263	Global developmental delay
7545	ZIC1	HP:0002516	Increased intracranial pressure
7545	ZIC1	HP:0002697	Parietal foramina
7545	ZIC1	HP:0001363	Craniosynostosis
7545	ZIC1	HP:0001357	Plagiocephaly
7545	ZIC1	HP:0000006	Autosomal dominant inheritance
7545	ZIC1	HP:0001305	Dandy-Walker malformation
7545	ZIC1	HP:0002650	Scoliosis
7545	ZIC1	HP:0001476	Delayed closure of the anterior fontanelle
7545	ZIC1	HP:0012110	Hypoplasia of the pons
7545	ZIC1	HP:0011800	Midface retrusion
7545	ZIC1	HP:0003593	Infantile onset
7545	ZIC1	HP:0003577	Congenital onset
7545	ZIC1	HP:0009701	Metacarpal synostosis
7545	ZIC1	HP:0000609	Optic nerve hypoplasia
7545	ZIC1	HP:0011322	Right unilambdoid synostosis
7545	ZIC1	HP:0011318	Bicoronal synostosis
7545	ZIC1	HP:0006956	Lateral ventricle dilatation
7545	ZIC1	HP:0000729	Autistic behavior
7545	ZIC1	HP:0004443	Lambdoidal craniosynostosis
7545	ZIC1	HP:0003298	Spina bifida occulta
7545	ZIC1	HP:0000294	Low anterior hairline
7545	ZIC1	HP:0000262	Turricephaly
7545	ZIC1	HP:0000270	Delayed cranial suture closure
7545	ZIC1	HP:0000252	Microcephaly
7545	ZIC1	HP:0000248	Brachycephaly
7545	ZIC1	HP:0000365	Hearing impairment
7545	ZIC1	HP:0000337	Broad forehead
7545	ZIC1	HP:0000348	High forehead
7545	ZIC1	HP:0000316	Hypertelorism
7545	ZIC1	HP:0000324	Facial asymmetry
7545	ZIC1	HP:0000407	Sensorineural hearing impairment
7545	ZIC1	HP:0000486	Strabismus
7545	ZIC1	HP:0000494	Downslanted palpebral fissures
7545	ZIC1	HP:0005469	Flat occiput
7545	ZIC1	HP:0000520	Proptosis
7545	ZIC1	HP:0000508	Ptosis
7546	ZIC2	HP:0002465	Poor speech
7546	ZIC2	HP:0002474	Expressive language delay
7546	ZIC2	HP:0002451	Limb dystonia
7546	ZIC2	HP:0007301	Oromotor apraxia
7546	ZIC2	HP:0009932	Single naris
7546	ZIC2	HP:0009914	Cyclopia
7546	ZIC2	HP:0002418	Abnormal midbrain morphology
7546	ZIC2	HP:0001290	Generalized hypotonia
7546	ZIC2	HP:0001274	Agenesis of corpus callosum
7546	ZIC2	HP:0001273	Abnormal corpus callosum morphology
7546	ZIC2	HP:0001254	Lethargy
7546	ZIC2	HP:0001250	Seizure
7546	ZIC2	HP:0001249	Intellectual disability
7546	ZIC2	HP:0001263	Global developmental delay
7546	ZIC2	HP:0001257	Spasticity
7546	ZIC2	HP:0008736	Hypoplasia of penis
7546	ZIC2	HP:0007375	Abnormal septum pellucidum morphology
7546	ZIC2	HP:0002540	Inability to walk
7546	ZIC2	HP:0002507	Semilobar holoprosencephaly
7546	ZIC2	HP:0000062	Ambiguous genitalia
7546	ZIC2	HP:0001371	Flexion contracture
7546	ZIC2	HP:0001355	Megalencephaly
7546	ZIC2	HP:0001360	Holoprosencephaly
7546	ZIC2	HP:0001328	Specific learning disability
7546	ZIC2	HP:0001344	Absent speech
7546	ZIC2	HP:0000006	Autosomal dominant inheritance
7546	ZIC2	HP:0002650	Scoliosis
7546	ZIC2	HP:0000193	Bifid uvula
7546	ZIC2	HP:0000161	Median cleft lip
7546	ZIC2	HP:0000175	Cleft palate
7546	ZIC2	HP:0006315	Solitary median maxillary central incisor
7546	ZIC2	HP:0008947	Infantile muscular hypotonia
7546	ZIC2	HP:0012110	Hypoplasia of the pons
7546	ZIC2	HP:0000119	Abnormality of the genitourinary system
7546	ZIC2	HP:0002793	Abnormal pattern of respiration
7546	ZIC2	HP:0000104	Renal agenesis
7546	ZIC2	HP:0002020	Gastroesophageal reflux
7546	ZIC2	HP:0002019	Constipation
7546	ZIC2	HP:0002033	Poor suck
7546	ZIC2	HP:0002002	Deep philtrum
7546	ZIC2	HP:0002015	Dysphagia
7546	ZIC2	HP:0002013	Vomiting
7546	ZIC2	HP:0040327	Abnormal morphology of the olfactory bulb
7546	ZIC2	HP:0005968	Temperature instability
7546	ZIC2	HP:0002099	Asthma
7546	ZIC2	HP:0011787	Central hypothyroidism
7546	ZIC2	HP:0003468	Abnormal vertebral morphology
7546	ZIC2	HP:0003458	EMG: myopathic abnormalities
7546	ZIC2	HP:0002270	Abnormality of the autonomic nervous system
7546	ZIC2	HP:0100704	Cerebral visual impairment
7546	ZIC2	HP:0100710	Impulsivity
7546	ZIC2	HP:0002247	Duodenal atresia
7546	ZIC2	HP:0010654	Aplasia of the falx cerebri
7546	ZIC2	HP:0007018	Attention deficit hyperactivity disorder
7546	ZIC2	HP:0010644	Midnasal stenosis
7546	ZIC2	HP:0011968	Feeding difficulties
7546	ZIC2	HP:0011951	Aspiration pneumonia
7546	ZIC2	HP:0002363	Abnormal brainstem morphology
7546	ZIC2	HP:0001028	Hemangioma
7546	ZIC2	HP:0010804	Tented upper lip vermilion
7546	ZIC2	HP:0009800	Maternal diabetes
7546	ZIC2	HP:0006870	Lobar holoprosencephaly
7546	ZIC2	HP:0031860	Abnormal heart rate variability
7546	ZIC2	HP:0000612	Iris coloboma
7546	ZIC2	HP:0000601	Hypotelorism
7546	ZIC2	HP:0009062	Infantile axial hypotonia
7546	ZIC2	HP:0012650	Perisylvian polymicrogyria
7546	ZIC2	HP:0001999	Abnormal facial shape
7546	ZIC2	HP:0000664	Synophrys
7546	ZIC2	HP:0006988	Alobar holoprosencephaly
7546	ZIC2	HP:0004322	Short stature
7546	ZIC2	HP:0006979	Sleep-wake cycle disturbance
7546	ZIC2	HP:0006956	Lateral ventricle dilatation
7546	ZIC2	HP:0030680	Abnormality of cardiovascular system morphology
7546	ZIC2	HP:0031913	Rhombencephalosynapsis
7546	ZIC2	HP:0000772	Abnormal rib morphology
7546	ZIC2	HP:0000737	Irritability
7546	ZIC2	HP:0000739	Anxiety
7546	ZIC2	HP:0000736	Short attention span
7546	ZIC2	HP:0012718	Morphological abnormality of the gastrointestinal tract
7546	ZIC2	HP:0000741	Apathy
7546	ZIC2	HP:0000716	Depression
7546	ZIC2	HP:0000708	Atypical behavior
7546	ZIC2	HP:0011471	Gastrostomy tube feeding in infancy
7546	ZIC2	HP:0011461	Fetal onset
7546	ZIC2	HP:0011442	Abnormal central motor function
7546	ZIC2	HP:0003196	Short nose
7546	ZIC2	HP:0000924	Abnormality of the skeletal system
7546	ZIC2	HP:0004478	Ethmoidal encephalocele
7546	ZIC2	HP:0000873	Diabetes insipidus
7546	ZIC2	HP:0000871	Panhypopituitarism
7546	ZIC2	HP:0000863	Central diabetes insipidus
7546	ZIC2	HP:0000830	Anterior hypopituitarism
7546	ZIC2	HP:0012806	Proboscis
7546	ZIC2	HP:0000818	Abnormality of the endocrine system
7546	ZIC2	HP:0000826	Precocious puberty
7546	ZIC2	HP:0000821	Hypothyroidism
7546	ZIC2	HP:0000824	Decreased response to growth hormone stimulation test
7546	ZIC2	HP:0040064	Abnormality of limbs
7546	ZIC2	HP:0045005	Neural tube defect
7546	ZIC2	HP:0012285	Abnormal hypothalamus physiology
7546	ZIC2	HP:0000256	Macrocephaly
7546	ZIC2	HP:0002827	Hip dislocation
7546	ZIC2	HP:0000243	Trigonocephaly
7546	ZIC2	HP:0000238	Hydrocephalus
7546	ZIC2	HP:0000252	Microcephaly
7546	ZIC2	HP:0000218	High palate
7546	ZIC2	HP:0001545	Anteriorly placed anus
7546	ZIC2	HP:0002871	Central apnea
7546	ZIC2	HP:0000202	Orofacial cleft
7546	ZIC2	HP:0001508	Failure to thrive
7546	ZIC2	HP:0001511	Intrauterine growth retardation
7546	ZIC2	HP:0001510	Growth delay
7546	ZIC2	HP:0025670	Syntelencephaly
7546	ZIC2	HP:0006528	Chronic lung disease
7546	ZIC2	HP:0000341	Narrow forehead
7546	ZIC2	HP:0000340	Sloping forehead
7546	ZIC2	HP:0000337	Broad forehead
7546	ZIC2	HP:0001680	Coarctation of aorta
7546	ZIC2	HP:0000348	High forehead
7546	ZIC2	HP:0000316	Hypertelorism
7546	ZIC2	HP:0000322	Short philtrum
7546	ZIC2	HP:0001627	Abnormal heart morphology
7546	ZIC2	HP:0001622	Premature birth
7546	ZIC2	HP:0001636	Tetralogy of Fallot
7546	ZIC2	HP:0000407	Sensorineural hearing impairment
7546	ZIC2	HP:0000400	Macrotia
7546	ZIC2	HP:0005280	Depressed nasal bridge
7546	ZIC2	HP:0000486	Strabismus
7546	ZIC2	HP:0000478	Abnormality of the eye
7546	ZIC2	HP:0000463	Anteverted nares
7546	ZIC2	HP:0000457	Depressed nasal ridge
7546	ZIC2	HP:0000453	Choanal atresia
7546	ZIC2	HP:0000446	Narrow nasal bridge
7546	ZIC2	HP:0000582	Upslanted palpebral fissure
7547	ZIC3	HP:0001161	Hand polydactyly
7547	ZIC3	HP:0002475	Myelomeningocele
7547	ZIC3	HP:0010963	Absence of stomach bubble on fetal sonography
7547	ZIC3	HP:0002410	Aqueductal stenosis
7547	ZIC3	HP:0002575	Tracheoesophageal fistula
7547	ZIC3	HP:0008750	Laryngeal atresia
7547	ZIC3	HP:0003811	Neonatal death
7547	ZIC3	HP:0000085	Horseshoe kidney
7547	ZIC3	HP:0000068	Urethral atresia
7547	ZIC3	HP:0001374	Congenital hip dislocation
7547	ZIC3	HP:0001321	Cerebellar hypoplasia
7547	ZIC3	HP:0003974	Absent radius
7547	ZIC3	HP:0000126	Hydronephrosis
7547	ZIC3	HP:0000105	Enlarged kidney
7547	ZIC3	HP:0000104	Renal agenesis
7547	ZIC3	HP:0001419	X-linked recessive inheritance
7547	ZIC3	HP:0002023	Anal atresia
7547	ZIC3	HP:0003363	Abdominal situs inversus
7547	ZIC3	HP:0002032	Esophageal atresia
7547	ZIC3	HP:0003305	Block vertebrae
7547	ZIC3	HP:0002089	Pulmonary hypoplasia
7547	ZIC3	HP:0002098	Respiratory distress
7547	ZIC3	HP:0005912	Biliary atresia
7547	ZIC3	HP:0003468	Abnormal vertebral morphology
7547	ZIC3	HP:0009623	Proximal placement of thumb
7547	ZIC3	HP:0011861	Bilateral trilobed lung
7547	ZIC3	HP:0003577	Congenital onset
7547	ZIC3	HP:0002240	Hepatomegaly
7547	ZIC3	HP:0002247	Duodenal atresia
7547	ZIC3	HP:0033379	Bilateral superior vena cava
7547	ZIC3	HP:0031853	Isomerism
7547	ZIC3	HP:0030680	Abnormality of cardiovascular system morphology
7547	ZIC3	HP:0004383	Hypoplastic left heart
7547	ZIC3	HP:0034197	Third trimester onset
7547	ZIC3	HP:0003026	Short long bone
7547	ZIC3	HP:0000925	Abnormality of the vertebral column
7547	ZIC3	HP:0005792	Short humerus
7547	ZIC3	HP:0011536	Right atrial isomerism
7547	ZIC3	HP:0011565	Common atrium
7547	ZIC3	HP:0012890	Posteriorly placed anus
7547	ZIC3	HP:0011560	Mitral atresia
7547	ZIC3	HP:0010305	Absence of the sacrum
7547	ZIC3	HP:0000961	Cyanosis
7547	ZIC3	HP:0000960	Sacral dimple
7547	ZIC3	HP:0011670	Left superior vena cava draining to coronary sinus
7547	ZIC3	HP:0000238	Hydrocephalus
7547	ZIC3	HP:0001561	Polyhydramnios
7547	ZIC3	HP:0031348	Dextrotransposition of the great arteries
7547	ZIC3	HP:0001539	Omphalocele
7547	ZIC3	HP:0001508	Failure to thrive
7547	ZIC3	HP:0005160	Total anomalous pulmonary venous return
7547	ZIC3	HP:0000369	Low-set ears
7547	ZIC3	HP:0001674	Complete atrioventricular canal defect
7547	ZIC3	HP:0001669	Transposition of the great arteries
7547	ZIC3	HP:0001682	Subvalvular aortic stenosis
7547	ZIC3	HP:0001680	Coarctation of aorta
7547	ZIC3	HP:0001651	Dextrocardia
7547	ZIC3	HP:0012304	Hypoplastic aortic arch
7547	ZIC3	HP:0000316	Hypertelorism
7547	ZIC3	HP:0001643	Patent ductus arteriosus
7547	ZIC3	HP:0001642	Pulmonic stenosis
7547	ZIC3	HP:0001655	Patent foramen ovale
7547	ZIC3	HP:0001629	Ventricular septal defect
7547	ZIC3	HP:0001640	Cardiomegaly
7547	ZIC3	HP:0001631	Atrial septal defect
7547	ZIC3	HP:0005301	Persistent left superior vena cava
7547	ZIC3	HP:0006695	Atrioventricular canal defect
7547	ZIC3	HP:0001719	Double outlet right ventricle
7547	ZIC3	HP:0001718	Mitral stenosis
7547	ZIC3	HP:0001776	Bilateral talipes equinovarus
7547	ZIC3	HP:0001750	Single ventricle
7547	ZIC3	HP:0001746	Asplenia
7547	ZIC3	HP:0001748	Polysplenia
7547	ZIC3	HP:0001800	Hypoplastic toenails
7552	ZNF711	HP:0001270	Motor delay
7552	ZNF711	HP:0001249	Intellectual disability
7552	ZNF711	HP:0001417	X-linked inheritance
7552	ZNF711	HP:0002342	Intellectual disability, moderate
7552	ZNF711	HP:0000664	Synophrys
7552	ZNF711	HP:0000750	Delayed speech and language development
7552	ZNF711	HP:0000729	Autistic behavior
7552	ZNF711	HP:0011463	Childhood onset
7552	ZNF711	HP:0000283	Broad face
7552	ZNF711	HP:0000276	Long face
7552	ZNF711	HP:0001513	Obesity
7552	ZNF711	HP:0000400	Macrotia
7552	ZNF711	HP:0011220	Prominent forehead
7555	CNBP	HP:0002486	Myotonia
7555	CNBP	HP:0003722	Neck flexor weakness
7555	CNBP	HP:0003701	Proximal muscle weakness
7555	CNBP	HP:0003700	Generalized amyotrophy
7555	CNBP	HP:0001249	Intellectual disability
7555	CNBP	HP:0001265	Hyporeflexia
7555	CNBP	HP:0012036	Sternocleidomastoid amyotrophy
7555	CNBP	HP:0000006	Autosomal dominant inheritance
7555	CNBP	HP:0000135	Hypogonadism
7555	CNBP	HP:0003326	Myalgia
7555	CNBP	HP:0005978	Type II diabetes mellitus
7555	CNBP	HP:0011712	Right bundle branch block
7555	CNBP	HP:0008189	Insulin insensitivity
7555	CNBP	HP:0008232	Elevated circulating follicle stimulating hormone level
7555	CNBP	HP:0003596	Middle age onset
7555	CNBP	HP:0003554	Type 2 muscle fiber atrophy
7555	CNBP	HP:0002292	Frontal balding
7555	CNBP	HP:0001962	Palpitations
7555	CNBP	HP:0004315	Decreased circulating IgG level
7555	CNBP	HP:0000798	Oligospermia
7555	CNBP	HP:0012899	Handgrip myotonia
7555	CNBP	HP:0003236	Elevated circulating creatine kinase concentration
7555	CNBP	HP:0030891	Periventricular white matter hyperintensities
7555	CNBP	HP:0007787	Posterior subcapsular cataract
7555	CNBP	HP:0002850	Decreased circulating total IgM
7555	CNBP	HP:0007889	Iridescent posterior subcapsular cataract
7555	CNBP	HP:0001649	Tachycardia
7555	CNBP	HP:0030319	Weakness of facial musculature
7555	CNBP	HP:0006682	Premature ventricular contraction
7555	CNBP	HP:0000518	Cataract
7681	MKRN3	HP:0001159	Syndactyly
7681	MKRN3	HP:0007328	Impaired pain sensation
7681	MKRN3	HP:0003745	Sporadic
7681	MKRN3	HP:0001290	Generalized hypotonia
7681	MKRN3	HP:0001270	Motor delay
7681	MKRN3	HP:0001250	Seizure
7681	MKRN3	HP:0001249	Intellectual disability
7681	MKRN3	HP:0002591	Polyphagia
7681	MKRN3	HP:0001263	Global developmental delay
7681	MKRN3	HP:0000064	Hypoplastic labia minora
7681	MKRN3	HP:0000060	Clitoral hypoplasia
7681	MKRN3	HP:0000044	Hypogonadotropic hypogonadism
7681	MKRN3	HP:0000046	Small scrotum
7681	MKRN3	HP:0000054	Micropenis
7681	MKRN3	HP:0001385	Hip dysplasia
7681	MKRN3	HP:0000028	Cryptorchidism
7681	MKRN3	HP:0008872	Feeding difficulties in infancy
7681	MKRN3	HP:0007513	Generalized hypopigmentation
7681	MKRN3	HP:0001328	Specific learning disability
7681	MKRN3	HP:0000006	Autosomal dominant inheritance
7681	MKRN3	HP:0002650	Scoliosis
7681	MKRN3	HP:0001319	Neonatal hypotonia
7681	MKRN3	HP:0002791	Hypoventilation
7681	MKRN3	HP:0002714	Downturned corners of mouth
7681	MKRN3	HP:0002033	Poor suck
7681	MKRN3	HP:0005968	Temperature instability
7681	MKRN3	HP:0005978	Type II diabetes mellitus
7681	MKRN3	HP:0030919	Low 5-minute APGAR score
7681	MKRN3	HP:0030918	Low 1-minute APGAR score
7681	MKRN3	HP:0009466	Radial deviation of finger
7681	MKRN3	HP:0002119	Ventriculomegaly
7681	MKRN3	HP:0010535	Sleep apnea
7681	MKRN3	HP:0003577	Congenital onset
7681	MKRN3	HP:0002236	Frontal upsweep of hair
7681	MKRN3	HP:0100716	Self-injurious behavior
7681	MKRN3	HP:0002205	Recurrent respiratory infections
7681	MKRN3	HP:0007010	Poor fine motor coordination
7681	MKRN3	HP:0007015	Poor gross motor coordination
7681	MKRN3	HP:0007018	Attention deficit hyperactivity disorder
7681	MKRN3	HP:0002360	Sleep disturbance
7681	MKRN3	HP:0001010	Hypopigmentation of the skin
7681	MKRN3	HP:0200055	Small hand
7681	MKRN3	HP:0033454	Tube feeding
7681	MKRN3	HP:0031878	Acromicria
7681	MKRN3	HP:0004283	Narrow palm
7681	MKRN3	HP:0005599	Hypopigmentation of hair
7681	MKRN3	HP:0004279	Short palm
7681	MKRN3	HP:0000670	Carious teeth
7681	MKRN3	HP:0004322	Short stature
7681	MKRN3	HP:0005616	Accelerated skeletal maturation
7681	MKRN3	HP:0012743	Abdominal obesity
7681	MKRN3	HP:0000750	Delayed speech and language development
7681	MKRN3	HP:0000717	Autism
7681	MKRN3	HP:0000709	Psychosis
7681	MKRN3	HP:0011461	Fetal onset
7681	MKRN3	HP:0000789	Infertility
7681	MKRN3	HP:0000786	Primary amenorrhea
7681	MKRN3	HP:0003199	Decreased muscle mass
7681	MKRN3	HP:0000876	Oligomenorrhea
7681	MKRN3	HP:0000846	Adrenal insufficiency
7681	MKRN3	HP:0000842	Hyperinsulinemia
7681	MKRN3	HP:0000826	Precocious puberty
7681	MKRN3	HP:0000824	Decreased response to growth hormone stimulation test
7681	MKRN3	HP:0000823	Delayed puberty
7681	MKRN3	HP:0003241	External genital hypoplasia
7681	MKRN3	HP:0010314	Premature thelarche
7681	MKRN3	HP:0000992	Cutaneous photosensitivity
7681	MKRN3	HP:0000939	Osteoporosis
7681	MKRN3	HP:0000938	Osteopenia
7681	MKRN3	HP:0012275	Autosomal dominant inheritance with maternal imprinting
7681	MKRN3	HP:0000268	Dolichocephaly
7681	MKRN3	HP:0007730	Iris hypopigmentation
7681	MKRN3	HP:0030084	Clinodactyly
7681	MKRN3	HP:0002808	Kyphosis
7681	MKRN3	HP:0000219	Thin upper lip vermilion
7681	MKRN3	HP:0001562	Oligohydramnios
7681	MKRN3	HP:0001561	Polyhydramnios
7681	MKRN3	HP:0001558	Decreased fetal movement
7681	MKRN3	HP:0001531	Failure to thrive in infancy
7681	MKRN3	HP:0002857	Genu valgum
7681	MKRN3	HP:0001511	Intrauterine growth retardation
7681	MKRN3	HP:0001513	Obesity
7681	MKRN3	HP:0007874	Almond-shaped palpebral fissure
7681	MKRN3	HP:0000341	Narrow forehead
7681	MKRN3	HP:0001623	Breech presentation
7681	MKRN3	HP:0000486	Strabismus
7681	MKRN3	HP:0001773	Short foot
7681	MKRN3	HP:0012411	Premature pubarche
7681	MKRN3	HP:0000446	Narrow nasal bridge
7681	MKRN3	HP:0000582	Upslanted palpebral fissure
7681	MKRN3	HP:0000565	Esotropia
7681	MKRN3	HP:0000540	Hypermetropia
7681	MKRN3	HP:0000545	Myopia
7700	ZNF141	HP:0001162	Postaxial hand polydactyly
7700	ZNF141	HP:0000007	Autosomal recessive inheritance
7700	ZNF141	HP:0003577	Congenital onset
7700	ZNF141	HP:0000971	Abnormal sweat gland morphology
7700	ZNF141	HP:0009374	Broad phalanges of the 5th finger
7700	ZNF141	HP:0001597	Abnormality of the nail
7700	ZNF141	HP:0006482	Abnormality of dental morphology
7700	ZNF141	HP:0001830	Postaxial foot polydactyly
7701	ZNF142	HP:0002487	Hyperkinetic movements
7701	ZNF142	HP:0001251	Ataxia
7701	ZNF142	HP:0001249	Intellectual disability
7701	ZNF142	HP:0001263	Global developmental delay
7701	ZNF142	HP:0025336	Delayed ability to sit
7701	ZNF142	HP:0001332	Dystonia
7701	ZNF142	HP:0000007	Autosomal recessive inheritance
7701	ZNF142	HP:0001337	Tremor
7701	ZNF142	HP:0008936	Axial hypotonia
7701	ZNF142	HP:0002069	Bilateral tonic-clonic seizure
7701	ZNF142	HP:0002072	Chorea
7701	ZNF142	HP:0003593	Infantile onset
7701	ZNF142	HP:0002395	Lower limb hyperreflexia
7701	ZNF142	HP:0003623	Neonatal onset
7701	ZNF142	HP:0000750	Delayed speech and language development
7701	ZNF142	HP:0000268	Dolichocephaly
7701	ZNF142	HP:0000473	Torticollis
7703	PCGF2	HP:0001182	Tapered finger
7703	PCGF2	HP:0001181	Adducted thumb
7703	PCGF2	HP:0008551	Microtia
7703	PCGF2	HP:0100807	Long fingers
7703	PCGF2	HP:0100818	Long thorax
7703	PCGF2	HP:0001252	Hypotonia
7703	PCGF2	HP:0001249	Intellectual disability
7703	PCGF2	HP:0001260	Dysarthria
7703	PCGF2	HP:0001263	Global developmental delay
7703	PCGF2	HP:0001382	Joint hypermobility
7703	PCGF2	HP:0001357	Plagiocephaly
7703	PCGF2	HP:0006237	Prominent interphalangeal joints
7703	PCGF2	HP:0008872	Feeding difficulties in infancy
7703	PCGF2	HP:0001328	Specific learning disability
7703	PCGF2	HP:0001344	Absent speech
7703	PCGF2	HP:0000006	Autosomal dominant inheritance
7703	PCGF2	HP:0001320	Cerebellar vermis hypoplasia
7703	PCGF2	HP:0000164	Abnormality of the dentition
7703	PCGF2	HP:0000160	Narrow mouth
7703	PCGF2	HP:0006334	Hypoplasia of the primary teeth
7703	PCGF2	HP:0008936	Axial hypotonia
7703	PCGF2	HP:0002750	Delayed skeletal maturation
7703	PCGF2	HP:0002714	Downturned corners of mouth
7703	PCGF2	HP:0002020	Gastroesophageal reflux
7703	PCGF2	HP:0002019	Constipation
7703	PCGF2	HP:0002007	Frontal bossing
7703	PCGF2	HP:0002079	Hypoplasia of the corpus callosum
7703	PCGF2	HP:0002209	Sparse scalp hair
7703	PCGF2	HP:0002205	Recurrent respiratory infections
7703	PCGF2	HP:0007018	Attention deficit hyperactivity disorder
7703	PCGF2	HP:0003502	Mild short stature
7703	PCGF2	HP:0002389	Cavum septum pellucidum
7703	PCGF2	HP:0001054	Numerous nevi
7703	PCGF2	HP:0200055	Small hand
7703	PCGF2	HP:0002307	Drooling
7703	PCGF2	HP:0000629	Periorbital fullness
7703	PCGF2	HP:0000678	Dental crowding
7703	PCGF2	HP:0000691	Microdontia
7703	PCGF2	HP:0000689	Dental malocclusion
7703	PCGF2	HP:0000687	Widely spaced teeth
7703	PCGF2	HP:0004325	Decreased body weight
7703	PCGF2	HP:0005659	Thoracic kyphoscoliosis
7703	PCGF2	HP:0030676	Satyr ear
7703	PCGF2	HP:0000767	Pectus excavatum
7703	PCGF2	HP:0000768	Pectus carinatum
7703	PCGF2	HP:0000729	Autistic behavior
7703	PCGF2	HP:0000774	Narrow chest
7703	PCGF2	HP:0004482	Relative macrocephaly
7703	PCGF2	HP:0000879	Short sternum
7703	PCGF2	HP:0000995	Melanocytic nevus
7703	PCGF2	HP:0045025	Narrow palpebral fissure
7703	PCGF2	HP:0000297	Facial hypotonia
7703	PCGF2	HP:0000260	Wide anterior fontanel
7703	PCGF2	HP:0000256	Macrocephaly
7703	PCGF2	HP:0000276	Long face
7703	PCGF2	HP:0000272	Malar flattening
7703	PCGF2	HP:0030084	Clinodactyly
7703	PCGF2	HP:0000252	Microcephaly
7703	PCGF2	HP:0000248	Brachycephaly
7703	PCGF2	HP:0000219	Thin upper lip vermilion
7703	PCGF2	HP:0000218	High palate
7703	PCGF2	HP:0001561	Polyhydramnios
7703	PCGF2	HP:0002870	Obstructive sleep apnea
7703	PCGF2	HP:0001508	Failure to thrive
7703	PCGF2	HP:0001511	Intrauterine growth retardation
7703	PCGF2	HP:0002938	Lumbar hyperlordosis
7703	PCGF2	HP:0000369	Low-set ears
7703	PCGF2	HP:0000337	Broad forehead
7703	PCGF2	HP:0001643	Patent ductus arteriosus
7703	PCGF2	HP:0001659	Aortic regurgitation
7703	PCGF2	HP:0001631	Atrial septal defect
7703	PCGF2	HP:0000303	Mandibular prognathia
7703	PCGF2	HP:0001634	Mitral valve prolapse
7703	PCGF2	HP:0005302	Carotid artery tortuosity
7703	PCGF2	HP:0000405	Conductive hearing impairment
7703	PCGF2	HP:0001704	Tricuspid valve prolapse
7703	PCGF2	HP:0005274	Prominent nasal tip
7703	PCGF2	HP:0000494	Downslanted palpebral fissures
7703	PCGF2	HP:0012450	Chronic constipation
7703	PCGF2	HP:0000473	Torticollis
7703	PCGF2	HP:0001761	Pes cavus
7703	PCGF2	HP:0001845	Overlapping toe
7704	ZBTB16	HP:0031035	Chronic infection
7704	ZBTB16	HP:0031020	Bone marrow hypercellularity
7704	ZBTB16	HP:0001324	Muscle weakness
7704	ZBTB16	HP:0002653	Bone pain
7704	ZBTB16	HP:0025420	Diffuse alveolar hemorrhage
7704	ZBTB16	HP:0031245	Productive cough
7704	ZBTB16	HP:0002716	Lymphadenopathy
7704	ZBTB16	HP:0002027	Abdominal pain
7704	ZBTB16	HP:0030955	Alcoholism
7704	ZBTB16	HP:0002039	Anorexia
7704	ZBTB16	HP:0011900	Hypofibrinogenemia
7704	ZBTB16	HP:0100758	Gangrene
7704	ZBTB16	HP:0002321	Vertigo
7704	ZBTB16	HP:0100608	Metrorrhagia
7704	ZBTB16	HP:0005521	Disseminated intravascular coagulation
7704	ZBTB16	HP:0001974	Leukocytosis
7704	ZBTB16	HP:0001945	Fever
7704	ZBTB16	HP:0001903	Anemia
7704	ZBTB16	HP:0000790	Hematuria
7704	ZBTB16	HP:0010280	Stomatitis
7704	ZBTB16	HP:0000979	Purpura
7704	ZBTB16	HP:0000978	Bruising susceptibility
7704	ZBTB16	HP:0000967	Petechiae
7704	ZBTB16	HP:0000212	Gingival overgrowth
7704	ZBTB16	HP:0002875	Exertional dyspnea
7704	ZBTB16	HP:0000225	Gingival bleeding
7704	ZBTB16	HP:0031364	Ecchymosis
7704	ZBTB16	HP:0012378	Fatigue
7704	ZBTB16	HP:0030140	Oral cavity bleeding
7704	ZBTB16	HP:0000421	Epistaxis
7704	ZBTB16	HP:0001824	Weight loss
7704	ZBTB16	HP:0001892	Abnormal bleeding
7704	ZBTB16	HP:0001882	Leukopenia
7704	ZBTB16	HP:0001873	Thrombocytopenia
7704	ZBTB16	HP:0001876	Pancytopenia
7704	ZBTB16	HP:0001875	Neutropenia
7707	ZNF148	HP:0002465	Poor speech
7707	ZNF148	HP:0010851	EEG with burst suppression
7707	ZNF148	HP:0001274	Agenesis of corpus callosum
7707	ZNF148	HP:0001249	Intellectual disability
7707	ZNF148	HP:0001263	Global developmental delay
7707	ZNF148	HP:0000006	Autosomal dominant inheritance
7707	ZNF148	HP:0001319	Neonatal hypotonia
7707	ZNF148	HP:0000154	Wide mouth
7707	ZNF148	HP:0000110	Renal dysplasia
7707	ZNF148	HP:0000107	Renal cyst
7707	ZNF148	HP:0002002	Deep philtrum
7707	ZNF148	HP:0002007	Frontal bossing
7707	ZNF148	HP:0002093	Respiratory insufficiency
7707	ZNF148	HP:0002079	Hypoplasia of the corpus callosum
7707	ZNF148	HP:0002119	Ventriculomegaly
7707	ZNF148	HP:0002188	Delayed CNS myelination
7707	ZNF148	HP:0003577	Congenital onset
7707	ZNF148	HP:0011968	Feeding difficulties
7707	ZNF148	HP:0009765	Low hanging columella
7707	ZNF148	HP:0004322	Short stature
7707	ZNF148	HP:0031936	Delayed ability to walk
7707	ZNF148	HP:0012745	Short palpebral fissure
7707	ZNF148	HP:0000824	Decreased response to growth hormone stimulation test
7707	ZNF148	HP:0000286	Epicanthus
7707	ZNF148	HP:0000280	Coarse facial features
7707	ZNF148	HP:0000252	Microcephaly
7707	ZNF148	HP:0030048	Colpocephaly
7707	ZNF148	HP:0000358	Posteriorly rotated ears
7707	ZNF148	HP:0000369	Low-set ears
7707	ZNF148	HP:0000341	Narrow forehead
7707	ZNF148	HP:0001680	Coarctation of aorta
7707	ZNF148	HP:0000319	Smooth philtrum
7707	ZNF148	HP:0001643	Patent ductus arteriosus
7707	ZNF148	HP:0000325	Triangular face
7707	ZNF148	HP:0000307	Pointed chin
7707	ZNF148	HP:0006610	Wide intermamillary distance
7707	ZNF148	HP:0001718	Mitral stenosis
7707	ZNF148	HP:0000494	Downslanted palpebral fissures
7707	ZNF148	HP:0001763	Pes planus
7707	ZNF148	HP:0001762	Talipes equinovarus
7707	ZNF148	HP:0000506	Telecanthus
7707	ZNF148	HP:0000582	Upslanted palpebral fissure
7707	ZNF148	HP:0000540	Hypermetropia
7737	RNF113A	HP:0008619	Bilateral sensorineural hearing impairment
7737	RNF113A	HP:0001197	Abnormality of prenatal development or birth
7737	RNF113A	HP:0410219	Hypoplasia of mandible relative to maxilla
7737	RNF113A	HP:0007266	Cerebral dysmyelination
7737	RNF113A	HP:0007256	Abnormal pyramidal sign
7737	RNF113A	HP:0001290	Generalized hypotonia
7737	RNF113A	HP:0001276	Hypertonia
7737	RNF113A	HP:0001265	Hyporeflexia
7737	RNF113A	HP:0001260	Dysarthria
7737	RNF113A	HP:0001263	Global developmental delay
7737	RNF113A	HP:0001257	Spasticity
7737	RNF113A	HP:0002562	Low-set nipples
7737	RNF113A	HP:0008734	Decreased testicular size
7737	RNF113A	HP:0007381	Congenital exfoliative erythroderma
7737	RNF113A	HP:0001217	Clubbing
7737	RNF113A	HP:0001373	Joint dislocation
7737	RNF113A	HP:0000054	Micropenis
7737	RNF113A	HP:0001363	Craniosynostosis
7737	RNF113A	HP:0000028	Cryptorchidism
7737	RNF113A	HP:0007495	Prematurely aged appearance
7737	RNF113A	HP:0007485	Absence of subcutaneous fat
7737	RNF113A	HP:0001338	Partial agenesis of the corpus callosum
7737	RNF113A	HP:0001305	Dandy-Walker malformation
7737	RNF113A	HP:0001321	Cerebellar hypoplasia
7737	RNF113A	HP:0000154	Wide mouth
7737	RNF113A	HP:0025428	Bronchospasm
7737	RNF113A	HP:0006313	Widely spaced primary teeth
7737	RNF113A	HP:0007633	Bilateral microphthalmos
7737	RNF113A	HP:0002705	High, narrow palate
7737	RNF113A	HP:0006297	Enamel hypoplasia
7737	RNF113A	HP:0007587	Numerous pigmented freckles
7737	RNF113A	HP:0000133	Gonadal dysgenesis
7737	RNF113A	HP:0001423	X-linked dominant inheritance
7737	RNF113A	HP:0002750	Delayed skeletal maturation
7737	RNF113A	HP:0002719	Recurrent infections
7737	RNF113A	HP:0002028	Chronic diarrhea
7737	RNF113A	HP:0002080	Intention tremor
7737	RNF113A	HP:0002066	Gait ataxia
7737	RNF113A	HP:0034425	Reduced hair sulfur content
7737	RNF113A	HP:0002120	Cerebral cortical atrophy
7737	RNF113A	HP:0002119	Ventriculomegaly
7737	RNF113A	HP:0002136	Broad-based gait
7737	RNF113A	HP:0002187	Intellectual disability, profound
7737	RNF113A	HP:0002197	Generalized-onset seizure
7737	RNF113A	HP:0010551	Paraplegia/paraparesis
7737	RNF113A	HP:0003577	Congenital onset
7737	RNF113A	HP:0002217	Slow-growing hair
7737	RNF113A	HP:0002209	Sparse scalp hair
7737	RNF113A	HP:0002283	Global brain atrophy
7737	RNF113A	HP:0002299	Brittle hair
7737	RNF113A	HP:0002293	Alopecia of scalp
7737	RNF113A	HP:0007034	Generalized hyperreflexia
7737	RNF113A	HP:0008391	Dystrophic fingernails
7737	RNF113A	HP:0008386	Aplasia/Hypoplasia of the nails
7737	RNF113A	HP:0009830	Peripheral neuropathy
7737	RNF113A	HP:0001097	Keratoconjunctivitis sicca
7737	RNF113A	HP:0000639	Nystagmus
7737	RNF113A	HP:0000613	Photophobia
7737	RNF113A	HP:0000609	Optic nerve hypoplasia
7737	RNF113A	HP:0000608	Macular degeneration
7737	RNF113A	HP:0000601	Hypotelorism
7737	RNF113A	HP:0001903	Anemia
7737	RNF113A	HP:0000656	Ectropion
7737	RNF113A	HP:0000670	Carious teeth
7737	RNF113A	HP:0004322	Short stature
7737	RNF113A	HP:0006970	Periventricular leukomalacia
7737	RNF113A	HP:0003079	Defective DNA repair after ultraviolet radiation damage
7737	RNF113A	HP:0000750	Delayed speech and language development
7737	RNF113A	HP:0012760	Reduced social reciprocity
7737	RNF113A	HP:0003139	Panhypogammaglobulinemia
7737	RNF113A	HP:0000871	Panhypopituitarism
7737	RNF113A	HP:0045055	Tiger tail banding
7737	RNF113A	HP:0045075	Sparse eyebrow
7737	RNF113A	HP:0100275	Diffuse cerebellar atrophy
7737	RNF113A	HP:0000992	Cutaneous photosensitivity
7737	RNF113A	HP:0000958	Dry skin
7737	RNF113A	HP:0000965	Cutis marmorata
7737	RNF113A	HP:0000964	Eczema
7737	RNF113A	HP:0000938	Osteopenia
7737	RNF113A	HP:0008070	Sparse hair
7737	RNF113A	HP:0008064	Ichthyosis
7737	RNF113A	HP:0000286	Epicanthus
7737	RNF113A	HP:0000280	Coarse facial features
7737	RNF113A	HP:0000278	Retrognathia
7737	RNF113A	HP:0025548	Increased mean corpuscular hemoglobin concentration
7737	RNF113A	HP:0001598	Concave nail
7737	RNF113A	HP:0002828	Multiple joint contractures
7737	RNF113A	HP:0000253	Progressive microcephaly
7737	RNF113A	HP:0000252	Microcephaly
7737	RNF113A	HP:0002860	Squamous cell carcinoma
7737	RNF113A	HP:0001537	Umbilical hernia
7737	RNF113A	HP:0001511	Intrauterine growth retardation
7737	RNF113A	HP:0006538	Recurrent bronchopulmonary infections
7737	RNF113A	HP:0001618	Dysphonia
7737	RNF113A	HP:0002942	Thoracic kyphosis
7737	RNF113A	HP:0011001	Increased bone mineral density
7737	RNF113A	HP:0000348	High forehead
7737	RNF113A	HP:0000320	Bird-like facies
7737	RNF113A	HP:0000316	Hypertelorism
7737	RNF113A	HP:0001629	Ventricular septal defect
7737	RNF113A	HP:0001638	Cardiomyopathy
7737	RNF113A	HP:0000303	Mandibular prognathia
7737	RNF113A	HP:0005328	Progeroid facial appearance
7737	RNF113A	HP:0000483	Astigmatism
7737	RNF113A	HP:0000486	Strabismus
7737	RNF113A	HP:0000482	Microcornea
7737	RNF113A	HP:0000411	Protruding ear
7737	RNF113A	HP:0041068	Chronic decreased circulating IgG1
7737	RNF113A	HP:0000519	Developmental cataract
7737	RNF113A	HP:0000509	Conjunctivitis
7737	RNF113A	HP:0001809	Split nail
7737	RNF113A	HP:0001808	Fragile nails
7737	RNF113A	HP:0001807	Ridged nail
7737	RNF113A	HP:0000556	Retinal dystrophy
7737	RNF113A	HP:0000565	Esotropia
7737	RNF113A	HP:0000546	Retinal degeneration
7737	RNF113A	HP:0000545	Myopia
7737	RNF113A	HP:0001875	Neutropenia
7750	ZMYM2	HP:0001182	Tapered finger
7750	ZMYM2	HP:0008551	Microtia
7750	ZMYM2	HP:0001256	Intellectual disability, mild
7750	ZMYM2	HP:0001250	Seizure
7750	ZMYM2	HP:0001252	Hypotonia
7750	ZMYM2	HP:0001249	Intellectual disability
7750	ZMYM2	HP:0001263	Global developmental delay
7750	ZMYM2	HP:0000074	Ureteropelvic junction obstruction
7750	ZMYM2	HP:0000041	Chordee
7750	ZMYM2	HP:0001382	Joint hypermobility
7750	ZMYM2	HP:0000047	Hypospadias
7750	ZMYM2	HP:0000020	Urinary incontinence
7750	ZMYM2	HP:0000034	Hydrocele testis
7750	ZMYM2	HP:0000028	Cryptorchidism
7750	ZMYM2	HP:0033737	Grade III vesicoureteral reflux
7750	ZMYM2	HP:0000006	Autosomal dominant inheritance
7750	ZMYM2	HP:0002650	Scoliosis
7750	ZMYM2	HP:0000125	Pelvic kidney
7750	ZMYM2	HP:0000126	Hydronephrosis
7750	ZMYM2	HP:0000104	Renal agenesis
7750	ZMYM2	HP:0002714	Downturned corners of mouth
7750	ZMYM2	HP:0002015	Dysphagia
7750	ZMYM2	HP:0010490	Abnormality of the palmar creases
7750	ZMYM2	HP:0002144	Tethered cord
7750	ZMYM2	HP:0002267	Exaggerated startle response
7750	ZMYM2	HP:0003593	Infantile onset
7750	ZMYM2	HP:0007018	Attention deficit hyperactivity disorder
7750	ZMYM2	HP:0011968	Feeding difficulties
7750	ZMYM2	HP:0008499	High hypermetropia
7750	ZMYM2	HP:0009778	Short thumb
7750	ZMYM2	HP:0004209	Clinodactyly of the 5th finger
7750	ZMYM2	HP:0000670	Carious teeth
7750	ZMYM2	HP:0004322	Short stature
7750	ZMYM2	HP:0000805	Enuresis
7750	ZMYM2	HP:0031923	Hematocolpos
7750	ZMYM2	HP:0000750	Delayed speech and language development
7750	ZMYM2	HP:0000729	Autistic behavior
7750	ZMYM2	HP:0000709	Psychosis
7750	ZMYM2	HP:0003196	Short nose
7750	ZMYM2	HP:0003189	Long nose
7750	ZMYM2	HP:0009237	Short 5th finger
7750	ZMYM2	HP:0000954	Single transverse palmar crease
7750	ZMYM2	HP:0045025	Narrow palpebral fissure
7750	ZMYM2	HP:0009381	Short finger
7750	ZMYM2	HP:0000286	Epicanthus
7750	ZMYM2	HP:0012227	Urethral stricture
7750	ZMYM2	HP:0000252	Microcephaly
7750	ZMYM2	HP:0000218	High palate
7750	ZMYM2	HP:0030011	Imperforate hymen
7750	ZMYM2	HP:0002870	Obstructive sleep apnea
7750	ZMYM2	HP:0001511	Intrauterine growth retardation
7750	ZMYM2	HP:0001510	Growth delay
7750	ZMYM2	HP:0000385	Small earlobe
7750	ZMYM2	HP:0000358	Posteriorly rotated ears
7750	ZMYM2	HP:0000369	Low-set ears
7750	ZMYM2	HP:0000316	Hypertelorism
7750	ZMYM2	HP:0001643	Patent ductus arteriosus
7750	ZMYM2	HP:0000325	Triangular face
7750	ZMYM2	HP:0001629	Ventricular septal defect
7750	ZMYM2	HP:0001631	Atrial septal defect
7750	ZMYM2	HP:0012471	Thick vermilion border
7750	ZMYM2	HP:0000494	Downslanted palpebral fissures
7750	ZMYM2	HP:0000463	Anteverted nares
7750	ZMYM2	HP:0000455	Broad nasal tip
7750	ZMYM2	HP:0000475	Broad neck
7750	ZMYM2	HP:0001773	Short foot
7750	ZMYM2	HP:0000414	Bulbous nose
7750	ZMYM2	HP:0000431	Wide nasal bridge
7750	ZMYM2	HP:0001837	Broad toe
7750	ZMYM2	HP:0000506	Telecanthus
7750	ZMYM2	HP:0001800	Hypoplastic toenails
7750	ZMYM2	HP:0000540	Hypermetropia
7780	SLC30A2	HP:0000006	Autosomal dominant inheritance
7780	SLC30A2	HP:0031831	Decreased serum zinc
7780	SLC30A2	HP:0000964	Eczema
7780	SLC30A2	HP:0001596	Alopecia
7783	ZP2	HP:0000007	Autosomal recessive inheritance
7783	ZP2	HP:0008222	Female infertility
7783	ZP2	HP:0020157	Thin zona pellucida
7784	ZP3	HP:0000006	Autosomal dominant inheritance
7784	ZP3	HP:0008222	Female infertility
7784	ZP3	HP:0011462	Young adult onset
7798	LUZP1	HP:0001156	Brachydactyly
7798	LUZP1	HP:0002465	Poor speech
7798	LUZP1	HP:0001107	Ocular albinism
7798	LUZP1	HP:0008551	Microtia
7798	LUZP1	HP:0001274	Agenesis of corpus callosum
7798	LUZP1	HP:0001288	Gait disturbance
7798	LUZP1	HP:0001250	Seizure
7798	LUZP1	HP:0001252	Hypotonia
7798	LUZP1	HP:0001249	Intellectual disability
7798	LUZP1	HP:0002591	Polyphagia
7798	LUZP1	HP:0001263	Global developmental delay
7798	LUZP1	HP:0008736	Hypoplasia of penis
7798	LUZP1	HP:0001397	Hepatic steatosis
7798	LUZP1	HP:0001392	Abnormality of the liver
7798	LUZP1	HP:0000077	Abnormality of the kidney
7798	LUZP1	HP:0000055	Abnormality of female external genitalia
7798	LUZP1	HP:0001385	Hip dysplasia
7798	LUZP1	HP:0001387	Joint stiffness
7798	LUZP1	HP:0000047	Hypospadias
7798	LUZP1	HP:0000028	Cryptorchidism
7798	LUZP1	HP:0008872	Feeding difficulties in infancy
7798	LUZP1	HP:0001344	Absent speech
7798	LUZP1	HP:0002650	Scoliosis
7798	LUZP1	HP:0000160	Narrow mouth
7798	LUZP1	HP:0000135	Hypogonadism
7798	LUZP1	HP:0000126	Hydronephrosis
7798	LUZP1	HP:0000107	Renal cyst
7798	LUZP1	HP:0002715	Abnormality of the immune system
7798	LUZP1	HP:0002021	Pyloric stenosis
7798	LUZP1	HP:0002020	Gastroesophageal reflux
7798	LUZP1	HP:0002019	Constipation
7798	LUZP1	HP:0002015	Dysphagia
7798	LUZP1	HP:0002007	Frontal bossing
7798	LUZP1	HP:0011800	Midface retrusion
7798	LUZP1	HP:0100559	Lower limb asymmetry
7798	LUZP1	HP:0002120	Cerebral cortical atrophy
7798	LUZP1	HP:0002119	Ventriculomegaly
7798	LUZP1	HP:0003416	Spinal canal stenosis
7798	LUZP1	HP:0002167	Abnormality of speech or vocalization
7798	LUZP1	HP:0100490	Camptodactyly of finger
7798	LUZP1	HP:0002242	Abnormal intestine morphology
7798	LUZP1	HP:0100716	Self-injurious behavior
7798	LUZP1	HP:0002230	Generalized hirsutism
7798	LUZP1	HP:0001009	Telangiectasia
7798	LUZP1	HP:0002353	EEG abnormality
7798	LUZP1	HP:0008499	High hypermetropia
7798	LUZP1	HP:0004209	Clinodactyly of the 5th finger
7798	LUZP1	HP:0006824	Cranial nerve paralysis
7798	LUZP1	HP:0000639	Nystagmus
7798	LUZP1	HP:0000648	Optic atrophy
7798	LUZP1	HP:0004322	Short stature
7798	LUZP1	HP:0030680	Abnormality of cardiovascular system morphology
7798	LUZP1	HP:0004378	Abnormality of the anus
7798	LUZP1	HP:0004374	Hemiplegia/hemiparesis
7798	LUZP1	HP:0003006	Neuroblastoma
7798	LUZP1	HP:0012733	Macule
7798	LUZP1	HP:0000733	Abnormal repetitive mannerisms
7798	LUZP1	HP:0000750	Delayed speech and language development
7798	LUZP1	HP:0000717	Autism
7798	LUZP1	HP:0000708	Atypical behavior
7798	LUZP1	HP:0003198	Myopathy
7798	LUZP1	HP:0000902	Rib fusion
7798	LUZP1	HP:0000878	11 pairs of ribs
7798	LUZP1	HP:0000892	Bifid ribs
7798	LUZP1	HP:0000821	Hypothyroidism
7798	LUZP1	HP:0008066	Abnormal blistering of the skin
7798	LUZP1	HP:0000286	Epicanthus
7798	LUZP1	HP:0000270	Delayed cranial suture closure
7798	LUZP1	HP:0005113	Aortic arch aneurysm
7798	LUZP1	HP:0002808	Kyphosis
7798	LUZP1	HP:0000252	Microcephaly
7798	LUZP1	HP:0000248	Brachycephaly
7798	LUZP1	HP:0001508	Failure to thrive
7798	LUZP1	HP:0001513	Obesity
7798	LUZP1	HP:0000368	Low-set, posteriorly rotated ears
7798	LUZP1	HP:0001671	Abnormal cardiac septum morphology
7798	LUZP1	HP:0000343	Long philtrum
7798	LUZP1	HP:0001643	Patent ductus arteriosus
7798	LUZP1	HP:0001644	Dilated cardiomyopathy
7798	LUZP1	HP:0001654	Abnormal heart valve morphology
7798	LUZP1	HP:0001636	Tetralogy of Fallot
7798	LUZP1	HP:0000307	Pointed chin
7798	LUZP1	HP:0000407	Sensorineural hearing impairment
7798	LUZP1	HP:0001734	Annular pancreas
7798	LUZP1	HP:0000405	Conductive hearing impairment
7798	LUZP1	HP:0005280	Depressed nasal bridge
7798	LUZP1	HP:0000486	Strabismus
7798	LUZP1	HP:0000490	Deeply set eye
7798	LUZP1	HP:0000464	Abnormality of the neck
7798	LUZP1	HP:0000457	Depressed nasal ridge
7798	LUZP1	HP:0001773	Short foot
7798	LUZP1	HP:0001743	Abnormality of the spleen
7798	LUZP1	HP:0000431	Wide nasal bridge
7798	LUZP1	HP:0000518	Cataract
7798	LUZP1	HP:0001829	Foot polydactyly
7798	LUZP1	HP:0000505	Visual impairment
7798	LUZP1	HP:0000504	Abnormality of vision
7798	LUZP1	HP:0011228	Horizontal eyebrow
7798	LUZP1	HP:0000534	Abnormal eyebrow morphology
7809	BSND	HP:0003774	Stage 5 chronic kidney disease
7809	BSND	HP:0008619	Bilateral sensorineural hearing impairment
7809	BSND	HP:0001290	Generalized hypotonia
7809	BSND	HP:0001270	Motor delay
7809	BSND	HP:0001252	Hypotonia
7809	BSND	HP:0001249	Intellectual disability
7809	BSND	HP:0001265	Hyporeflexia
7809	BSND	HP:0000083	Renal insufficiency
7809	BSND	HP:0025335	Delayed ability to stand
7809	BSND	HP:0001324	Muscle weakness
7809	BSND	HP:0000007	Autosomal recessive inheritance
7809	BSND	HP:0000121	Nephrocalcinosis
7809	BSND	HP:0000127	Renal salt wasting
7809	BSND	HP:0000103	Polyuria
7809	BSND	HP:0002013	Vomiting
7809	BSND	HP:0040288	Nasogastric tube feeding
7809	BSND	HP:0002150	Hypercalciuria
7809	BSND	HP:0004737	Global glomerulosclerosis
7809	BSND	HP:0004727	Impaired renal concentrating ability
7809	BSND	HP:0003577	Congenital onset
7809	BSND	HP:0003527	Hyperprostaglandinuria
7809	BSND	HP:0002312	Clumsiness
7809	BSND	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis
7809	BSND	HP:0005576	Tubulointerstitial fibrosis
7809	BSND	HP:0005565	Reduced renal corticomedullary differentiation
7809	BSND	HP:0012622	Chronic kidney disease
7809	BSND	HP:0012605	Hypernatriuria
7809	BSND	HP:0001944	Dehydration
7809	BSND	HP:0001960	Hypokalemic metabolic alkalosis
7809	BSND	HP:0001959	Polydipsia
7809	BSND	HP:0001919	Acute kidney injury
7809	BSND	HP:0003081	Increased urinary potassium
7809	BSND	HP:0031936	Delayed ability to walk
7809	BSND	HP:0000712	Emotional lability
7809	BSND	HP:0003113	Hypochloremia
7809	BSND	HP:0000859	Hyperaldosteronism
7809	BSND	HP:0000848	Increased circulating renin level
7809	BSND	HP:0000841	Hyperactive renin-angiotensin system
7809	BSND	HP:0000822	Hypertension
7809	BSND	HP:0000969	Edema
7809	BSND	HP:0012213	Decreased glomerular filtration rate
7809	BSND	HP:0001561	Polyhydramnios
7809	BSND	HP:0001563	Fetal polyuria
7809	BSND	HP:0001525	Severe failure to thrive
7809	BSND	HP:0001508	Failure to thrive
7809	BSND	HP:0001518	Small for gestational age
7809	BSND	HP:0002917	Hypomagnesemia
7809	BSND	HP:0002914	Hyperchloriduria
7809	BSND	HP:0002902	Hyponatremia
7809	BSND	HP:0002900	Hypokalemia
7809	BSND	HP:0000325	Triangular face
7809	BSND	HP:0001622	Premature birth
7809	BSND	HP:0000407	Sensorineural hearing impairment
7809	BSND	HP:0001789	Hydrops fetalis
7809	BSND	HP:0000411	Protruding ear
7827	NPHS2	HP:0003774	Stage 5 chronic kidney disease
7827	NPHS2	HP:0002586	Peritonitis
7827	NPHS2	HP:0000097	Focal segmental glomerulosclerosis
7827	NPHS2	HP:0000093	Proteinuria
7827	NPHS2	HP:0000007	Autosomal recessive inheritance
7827	NPHS2	HP:0000100	Nephrotic syndrome
7827	NPHS2	HP:0002027	Abdominal pain
7827	NPHS2	HP:0100539	Periorbital edema
7827	NPHS2	HP:0011947	Respiratory tract infection
7827	NPHS2	HP:0003678	Rapidly progressive
7827	NPHS2	HP:0002315	Headache
7827	NPHS2	HP:0003621	Juvenile onset
7827	NPHS2	HP:0012622	Chronic kidney disease
7827	NPHS2	HP:0001967	Diffuse mesangial sclerosis
7827	NPHS2	HP:0001945	Fever
7827	NPHS2	HP:0003077	Hyperlipidemia
7827	NPHS2	HP:0003073	Hypoalbuminemia
7827	NPHS2	HP:0000737	Irritability
7827	NPHS2	HP:0000707	Abnormality of the nervous system
7827	NPHS2	HP:0011463	Childhood onset
7827	NPHS2	HP:0000969	Edema
7827	NPHS2	HP:0031504	Foamy urine
7827	NPHS2	HP:0012579	Minimal change glomerulonephritis
7837	PXDN	HP:0000007	Autosomal recessive inheritance
7837	PXDN	HP:0007663	Reduced visual acuity
7837	PXDN	HP:0003577	Congenital onset
7837	PXDN	HP:0003623	Neonatal onset
7837	PXDN	HP:0000647	Sclerocornea
7837	PXDN	HP:0000612	Iris coloboma
7837	PXDN	HP:0011483	Anterior synechiae of the anterior chamber
7837	PXDN	HP:0007700	Ocular anterior segment dysgenesis
7837	PXDN	HP:0007957	Corneal opacity
7837	PXDN	HP:0007906	Ocular hypertension
7837	PXDN	HP:0000482	Microcornea
7837	PXDN	HP:0000518	Cataract
7837	PXDN	HP:0000557	Buphthalmos
7837	PXDN	HP:0000568	Microphthalmia
7840	ALMS1	HP:0001155	Abnormality of the hand
7840	ALMS1	HP:0002480	Hepatic encephalopathy
7840	ALMS1	HP:0001133	Constriction of peripheral visual field
7840	ALMS1	HP:0003774	Stage 5 chronic kidney disease
7840	ALMS1	HP:0001123	Visual field defect
7840	ALMS1	HP:0008625	Severe sensorineural hearing impairment
7840	ALMS1	HP:0009894	Thickened ears
7840	ALMS1	HP:0010863	Receptive language delay
7840	ALMS1	HP:0001251	Ataxia
7840	ALMS1	HP:0002591	Polyphagia
7840	ALMS1	HP:0001263	Global developmental delay
7840	ALMS1	HP:0008734	Decreased testicular size
7840	ALMS1	HP:0025383	Dorsocervical fat pad
7840	ALMS1	HP:0000083	Renal insufficiency
7840	ALMS1	HP:0000099	Glomerulonephritis
7840	ALMS1	HP:0001397	Hepatic steatosis
7840	ALMS1	HP:0001399	Hepatic failure
7840	ALMS1	HP:0001395	Hepatic fibrosis
7840	ALMS1	HP:0001394	Cirrhosis
7840	ALMS1	HP:0012041	Decreased fertility in males
7840	ALMS1	HP:0025336	Delayed ability to sit
7840	ALMS1	HP:0000054	Micropenis
7840	ALMS1	HP:0025335	Delayed ability to stand
7840	ALMS1	HP:0000020	Urinary incontinence
7840	ALMS1	HP:0000016	Urinary retention
7840	ALMS1	HP:0001328	Specific learning disability
7840	ALMS1	HP:0000010	Recurrent urinary tract infections
7840	ALMS1	HP:0000012	Urinary urgency
7840	ALMS1	HP:0000007	Autosomal recessive inheritance
7840	ALMS1	HP:0000009	Functional abnormality of the bladder
7840	ALMS1	HP:0002650	Scoliosis
7840	ALMS1	HP:0002621	Atherosclerosis
7840	ALMS1	HP:0025496	Abnormal coronary artery physiology
7840	ALMS1	HP:0025488	Detrusor sphincter dyssynergia
7840	ALMS1	HP:0000164	Abnormality of the dentition
7840	ALMS1	HP:0012115	Hepatitis
7840	ALMS1	HP:0000147	Polycystic ovaries
7840	ALMS1	HP:0410019	Epigastric pain
7840	ALMS1	HP:0000123	Nephritis
7840	ALMS1	HP:0002788	Recurrent upper respiratory tract infections
7840	ALMS1	HP:0001433	Hepatosplenomegaly
7840	ALMS1	HP:0001409	Portal hypertension
7840	ALMS1	HP:0002020	Gastroesophageal reflux
7840	ALMS1	HP:0005987	Multinodular goiter
7840	ALMS1	HP:0003326	Myalgia
7840	ALMS1	HP:0005978	Type II diabetes mellitus
7840	ALMS1	HP:0004626	Lumbar scoliosis
7840	ALMS1	HP:0100543	Cognitive impairment
7840	ALMS1	HP:0002098	Respiratory distress
7840	ALMS1	HP:0002099	Asthma
7840	ALMS1	HP:0002092	Pulmonary arterial hypertension
7840	ALMS1	HP:0002091	Restrictive ventilatory defect
7840	ALMS1	HP:0030948	Elevated gamma-glutamyltransferase level
7840	ALMS1	HP:0002040	Esophageal varix
7840	ALMS1	HP:0100518	Dysuria
7840	ALMS1	HP:0010442	Polydactyly
7840	ALMS1	HP:0010465	Precocious puberty in females
7840	ALMS1	HP:0003474	Somatic sensory dysfunction
7840	ALMS1	HP:0002155	Hypertriglyceridemia
7840	ALMS1	HP:0002149	Hyperuricemia
7840	ALMS1	HP:0002240	Hepatomegaly
7840	ALMS1	HP:0002213	Fine hair
7840	ALMS1	HP:0200120	Chronic active hepatitis
7840	ALMS1	HP:0002292	Frontal balding
7840	ALMS1	HP:0008373	Puberty and gonadal disorders
7840	ALMS1	HP:0007010	Poor fine motor coordination
7840	ALMS1	HP:0002360	Sleep disturbance
7840	ALMS1	HP:0001007	Hirsutism
7840	ALMS1	HP:0009804	Tooth agenesis
7840	ALMS1	HP:0010790	Hyoplasia of the Leydig cells
7840	ALMS1	HP:0002311	Incoordination
7840	ALMS1	HP:0031865	Abnormal liver physiology
7840	ALMS1	HP:0001970	Tubulointerstitial nephritis
7840	ALMS1	HP:0012622	Chronic kidney disease
7840	ALMS1	HP:0000639	Nystagmus
7840	ALMS1	HP:0000618	Blindness
7840	ALMS1	HP:0000613	Photophobia
7840	ALMS1	HP:0001956	Truncal obesity
7840	ALMS1	HP:0004322	Short stature
7840	ALMS1	HP:0005616	Accelerated skeletal maturation
7840	ALMS1	HP:0003077	Hyperlipidemia
7840	ALMS1	HP:0031936	Delayed ability to walk
7840	ALMS1	HP:0000771	Gynecomastia
7840	ALMS1	HP:0000729	Autistic behavior
7840	ALMS1	HP:0012786	Recurrent cystitis
7840	ALMS1	HP:0000798	Oligospermia
7840	ALMS1	HP:0004438	Hyperostosis frontalis interna
7840	ALMS1	HP:0004469	Chronic bronchitis
7840	ALMS1	HP:0000873	Diabetes insipidus
7840	ALMS1	HP:0012860	Testicular fibrosis
7840	ALMS1	HP:0011510	Drusen
7840	ALMS1	HP:0000858	Irregular menstruation
7840	ALMS1	HP:0000855	Insulin resistance
7840	ALMS1	HP:0000832	Primary hypothyroidism
7840	ALMS1	HP:0000831	Insulin-resistant diabetes mellitus
7840	ALMS1	HP:0000842	Hyperinsulinemia
7840	ALMS1	HP:0000815	Hypergonadotropic hypogonadism
7840	ALMS1	HP:0000822	Hypertension
7840	ALMS1	HP:0000821	Hypothyroidism
7840	ALMS1	HP:0000824	Decreased response to growth hormone stimulation test
7840	ALMS1	HP:0003233	Decreased HDL cholesterol concentration
7840	ALMS1	HP:0000956	Acanthosis nigricans
7840	ALMS1	HP:0009381	Short finger
7840	ALMS1	HP:0007722	Retinal pigment epithelial atrophy
7840	ALMS1	HP:0001596	Alopecia
7840	ALMS1	HP:0007787	Posterior subcapsular cataract
7840	ALMS1	HP:0002808	Kyphosis
7840	ALMS1	HP:0000230	Gingivitis
7840	ALMS1	HP:0001513	Obesity
7840	ALMS1	HP:0006510	Chronic pulmonary obstruction
7840	ALMS1	HP:0011073	Abnormality of dental color
7840	ALMS1	HP:0031507	Decreased circulating T4 concentration
7840	ALMS1	HP:0000388	Otitis media
7840	ALMS1	HP:0006532	Recurrent pneumonia
7840	ALMS1	HP:0002943	Thoracic scoliosis
7840	ALMS1	HP:0002910	Elevated hepatic transaminase
7840	ALMS1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7840	ALMS1	HP:0001685	Myocardial fibrosis
7840	ALMS1	HP:0000311	Round face
7840	ALMS1	HP:0001644	Dilated cardiomyopathy
7840	ALMS1	HP:0001635	Congestive heart failure
7840	ALMS1	HP:0011147	Typical absence seizure
7840	ALMS1	HP:0000408	Progressive sensorineural hearing impairment
7840	ALMS1	HP:0001733	Pancreatitis
7840	ALMS1	HP:0000490	Deeply set eye
7840	ALMS1	HP:0011108	Recurrent sinusitis
7840	ALMS1	HP:0001763	Pes planus
7840	ALMS1	HP:0001751	Abnormal vestibular function
7840	ALMS1	HP:0001744	Splenomegaly
7840	ALMS1	HP:0000518	Cataract
7840	ALMS1	HP:0000523	Subcapsular cataract
7840	ALMS1	HP:0001831	Short toe
7840	ALMS1	HP:0030348	Increased circulating androgen concentration
7840	ALMS1	HP:0000580	Pigmentary retinopathy
7840	ALMS1	HP:0012569	Delayed menarche
7840	ALMS1	HP:0000556	Retinal dystrophy
7840	ALMS1	HP:0000572	Visual loss
7840	ALMS1	HP:0000548	Cone/cone-rod dystrophy
7840	ALMS1	HP:0000543	Optic disc pallor
7841	MOGS	HP:0001188	Hand clenching
7841	MOGS	HP:0010851	EEG with burst suppression
7841	MOGS	HP:0001290	Generalized hypotonia
7841	MOGS	HP:0001250	Seizure
7841	MOGS	HP:0001252	Hypotonia
7841	MOGS	HP:0001263	Global developmental delay
7841	MOGS	HP:0007430	Generalized edema
7841	MOGS	HP:0000034	Hydrocele testis
7841	MOGS	HP:0008872	Feeding difficulties in infancy
7841	MOGS	HP:0001332	Dystonia
7841	MOGS	HP:0000007	Autosomal recessive inheritance
7841	MOGS	HP:0008947	Infantile muscular hypotonia
7841	MOGS	HP:0002791	Hypoventilation
7841	MOGS	HP:0002757	Recurrent fractures
7841	MOGS	HP:0031218	Inappropriate antidiuretic hormone secretion
7841	MOGS	HP:0001433	Hepatosplenomegaly
7841	MOGS	HP:0002720	Decreased circulating IgA level
7841	MOGS	HP:0002098	Respiratory distress
7841	MOGS	HP:0002079	Hypoplasia of the corpus callosum
7841	MOGS	HP:0002059	Cerebral atrophy
7841	MOGS	HP:0100598	Pulmonary edema
7841	MOGS	HP:0040288	Nasogastric tube feeding
7841	MOGS	HP:0002104	Apnea
7841	MOGS	HP:0010557	Overlapping fingers
7841	MOGS	HP:0003577	Congenital onset
7841	MOGS	HP:0002240	Hepatomegaly
7841	MOGS	HP:0002286	Fair hair
7841	MOGS	HP:0001007	Hirsutism
7841	MOGS	HP:0020110	Bone fracture
7841	MOGS	HP:0007108	Demyelinating peripheral neuropathy
7841	MOGS	HP:0000649	Abnormality of visual evoked potentials
7841	MOGS	HP:0000648	Optic atrophy
7841	MOGS	HP:0001999	Abnormal facial shape
7841	MOGS	HP:0004315	Decreased circulating IgG level
7841	MOGS	HP:0031956	Elevated circulating aspartate aminotransferase concentration
7841	MOGS	HP:0004313	Decreased circulating antibody level
7841	MOGS	HP:0012745	Short palpebral fissure
7841	MOGS	HP:0004463	Absent brainstem auditory responses
7841	MOGS	HP:0012815	Hypoplastic female external genitalia
7841	MOGS	HP:0000821	Hypothyroidism
7841	MOGS	HP:0003241	External genital hypoplasia
7841	MOGS	HP:0000969	Edema
7841	MOGS	HP:0000278	Retrognathia
7841	MOGS	HP:0001596	Alopecia
7841	MOGS	HP:0000269	Prominent occiput
7841	MOGS	HP:0000218	High palate
7841	MOGS	HP:0001561	Polyhydramnios
7841	MOGS	HP:0002850	Decreased circulating total IgM
7841	MOGS	HP:0002943	Thoracic scoliosis
7841	MOGS	HP:0001640	Cardiomegaly
7841	MOGS	HP:0001631	Atrial septal defect
7841	MOGS	HP:0000407	Sensorineural hearing impairment
7841	MOGS	HP:0001712	Left ventricular hypertrophy
7841	MOGS	HP:0012450	Chronic constipation
7841	MOGS	HP:0000445	Wide nose
7841	MOGS	HP:0000527	Long eyelashes
7841	MOGS	HP:0000581	Blepharophimosis
7841	MOGS	HP:0001873	Thrombocytopenia
7846	TUBA1A	HP:0025102	Dysgenesis of the basal ganglia
7846	TUBA1A	HP:0025101	Dysgenesis of the hippocampus
7846	TUBA1A	HP:0020214	Startle-induced seizure
7846	TUBA1A	HP:0010864	Intellectual disability, severe
7846	TUBA1A	HP:0003700	Generalized amyotrophy
7846	TUBA1A	HP:0001290	Generalized hypotonia
7846	TUBA1A	HP:0001274	Agenesis of corpus callosum
7846	TUBA1A	HP:0001273	Abnormal corpus callosum morphology
7846	TUBA1A	HP:0001270	Motor delay
7846	TUBA1A	HP:0001250	Seizure
7846	TUBA1A	HP:0001252	Hypotonia
7846	TUBA1A	HP:0001251	Ataxia
7846	TUBA1A	HP:0001263	Global developmental delay
7846	TUBA1A	HP:0001262	Excessive daytime somnolence
7846	TUBA1A	HP:0001257	Spasticity
7846	TUBA1A	HP:0032389	Periventricular laminar heterotopia
7846	TUBA1A	HP:0032398	Dysgyria
7846	TUBA1A	HP:0007359	Focal-onset seizure
7846	TUBA1A	HP:0002510	Spastic tetraplegia
7846	TUBA1A	HP:0000028	Cryptorchidism
7846	TUBA1A	HP:0001339	Lissencephaly
7846	TUBA1A	HP:0001338	Partial agenesis of the corpus callosum
7846	TUBA1A	HP:0000006	Autosomal dominant inheritance
7846	TUBA1A	HP:0001305	Dandy-Walker malformation
7846	TUBA1A	HP:0001302	Pachygyria
7846	TUBA1A	HP:0001320	Cerebellar vermis hypoplasia
7846	TUBA1A	HP:0002650	Scoliosis
7846	TUBA1A	HP:0001488	Bilateral ptosis
7846	TUBA1A	HP:0000175	Cleft palate
7846	TUBA1A	HP:0012110	Hypoplasia of the pons
7846	TUBA1A	HP:0040327	Abnormal morphology of the olfactory bulb
7846	TUBA1A	HP:0002089	Pulmonary hypoplasia
7846	TUBA1A	HP:0002093	Respiratory insufficiency
7846	TUBA1A	HP:0002069	Bilateral tonic-clonic seizure
7846	TUBA1A	HP:0002079	Hypoplasia of the corpus callosum
7846	TUBA1A	HP:0010489	Absent palmar crease
7846	TUBA1A	HP:0002121	Generalized non-motor (absence) seizure
7846	TUBA1A	HP:0002119	Ventriculomegaly
7846	TUBA1A	HP:0002126	Polymicrogyria
7846	TUBA1A	HP:0002198	Dilated fourth ventricle
7846	TUBA1A	HP:0100490	Camptodactyly of finger
7846	TUBA1A	HP:0003577	Congenital onset
7846	TUBA1A	HP:0002251	Aganglionic megacolon
7846	TUBA1A	HP:0002282	Gray matter heterotopia
7846	TUBA1A	HP:0010663	Abnormality of thalamus morphology
7846	TUBA1A	HP:0007018	Attention deficit hyperactivity disorder
7846	TUBA1A	HP:0001059	Pterygium
7846	TUBA1A	HP:0002365	Hypoplasia of the brainstem
7846	TUBA1A	HP:0002363	Abnormal brainstem morphology
7846	TUBA1A	HP:0002375	Hypokinesia
7846	TUBA1A	HP:0010818	Generalized tonic seizure
7846	TUBA1A	HP:0003623	Neonatal onset
7846	TUBA1A	HP:0002304	Akinesia
7846	TUBA1A	HP:0031882	Agyria
7846	TUBA1A	HP:0034051	Hypoplastic anterior limbs of the internal capsule
7846	TUBA1A	HP:0000639	Nystagmus
7846	TUBA1A	HP:0000609	Optic nerve hypoplasia
7846	TUBA1A	HP:0012650	Perisylvian polymicrogyria
7846	TUBA1A	HP:0000657	Oculomotor apraxia
7846	TUBA1A	HP:0001989	Fetal akinesia sequence
7846	TUBA1A	HP:0006989	Dysplastic corpus callosum
7846	TUBA1A	HP:0000256	Macrocephaly
7846	TUBA1A	HP:0002828	Multiple joint contractures
7846	TUBA1A	HP:0002804	Arthrogryposis multiplex congenita
7846	TUBA1A	HP:0000252	Microcephaly
7846	TUBA1A	HP:0025517	Hypoplastic hippocampus
7846	TUBA1A	HP:0001561	Polyhydramnios
7846	TUBA1A	HP:0001511	Intrauterine growth retardation
7846	TUBA1A	HP:0005245	Intestinal hypoplasia
7846	TUBA1A	HP:0000358	Posteriorly rotated ears
7846	TUBA1A	HP:0000347	Micrognathia
7846	TUBA1A	HP:0000316	Hypertelorism
7846	TUBA1A	HP:0000308	Microretrognathia
7846	TUBA1A	HP:0005280	Depressed nasal bridge
7846	TUBA1A	HP:0000486	Strabismus
7846	TUBA1A	HP:0012469	Infantile spasms
7846	TUBA1A	HP:0000476	Cystic hygroma
7846	TUBA1A	HP:0012502	Abnormality of the internal capsule
7846	TUBA1A	HP:0012547	Abnormal involuntary eye movements
7849	PAX8	HP:0010864	Intellectual disability, severe
7849	PAX8	HP:0001254	Lethargy
7849	PAX8	HP:0001252	Hypotonia
7849	PAX8	HP:0001263	Global developmental delay
7849	PAX8	HP:0008872	Feeding difficulties in infancy
7849	PAX8	HP:0001324	Muscle weakness
7849	PAX8	HP:0000006	Autosomal dominant inheritance
7849	PAX8	HP:0025484	Increased circulating thyroglobulin level
7849	PAX8	HP:0000158	Macroglossia
7849	PAX8	HP:0002750	Delayed skeletal maturation
7849	PAX8	HP:0002019	Constipation
7849	PAX8	HP:0005990	Thyroid hypoplasia
7849	PAX8	HP:0002045	Hypothermia
7849	PAX8	HP:0008191	Thyroid agenesis
7849	PAX8	HP:0003577	Congenital onset
7849	PAX8	HP:0100786	Hypersomnia
7849	PAX8	HP:0011968	Feeding difficulties
7849	PAX8	HP:0003623	Neonatal onset
7849	PAX8	HP:0003621	Juvenile onset
7849	PAX8	HP:0004322	Short stature
7849	PAX8	HP:0100028	Ectopic thyroid
7849	PAX8	HP:0004491	Large posterior fontanelle
7849	PAX8	HP:0000851	Congenital hypothyroidism
7849	PAX8	HP:0000853	Goiter
7849	PAX8	HP:0000821	Hypothyroidism
7849	PAX8	HP:0000820	Abnormality of the thyroid gland
7849	PAX8	HP:0003270	Abdominal distention
7849	PAX8	HP:0010307	Stridor
7849	PAX8	HP:0000958	Dry skin
7849	PAX8	HP:0000952	Jaundice
7849	PAX8	HP:0000280	Coarse facial features
7849	PAX8	HP:0000271	Abnormality of the face
7849	PAX8	HP:0000239	Large fontanelles
7849	PAX8	HP:0001537	Umbilical hernia
7849	PAX8	HP:0001510	Growth delay
7849	PAX8	HP:0031507	Decreased circulating T4 concentration
7849	PAX8	HP:0012378	Fatigue
7849	PAX8	HP:0001615	Hoarse cry
7849	PAX8	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
7849	PAX8	HP:0002904	Hyperbilirubinemia
7849	PAX8	HP:0001662	Bradycardia
7852	CXCR4	HP:0100806	Sepsis
7852	CXCR4	HP:0001287	Meningitis
7852	CXCR4	HP:0001250	Seizure
7852	CXCR4	HP:0031020	Bone marrow hypercellularity
7852	CXCR4	HP:0012056	Cutaneous melanoma
7852	CXCR4	HP:0000055	Abnormality of female external genitalia
7852	CXCR4	HP:0031160	Myelokathexis
7852	CXCR4	HP:0000008	Abnormal morphology of female internal genitalia
7852	CXCR4	HP:0000006	Autosomal dominant inheritance
7852	CXCR4	HP:0000166	Severe periodontitis
7852	CXCR4	HP:0025439	Pharyngitis
7852	CXCR4	HP:0002788	Recurrent upper respiratory tract infections
7852	CXCR4	HP:0002718	Recurrent bacterial infections
7852	CXCR4	HP:0002090	Pneumonia
7852	CXCR4	HP:0002070	Limb ataxia
7852	CXCR4	HP:0002110	Bronchiectasis
7852	CXCR4	HP:0002167	Abnormality of speech or vocalization
7852	CXCR4	HP:0002172	Postural instability
7852	CXCR4	HP:0011850	Parotitis
7852	CXCR4	HP:0003593	Infantile onset
7852	CXCR4	HP:0002244	Abnormal small intestine morphology
7852	CXCR4	HP:0100750	Atelectasis
7852	CXCR4	HP:0011992	Abnormality of neutrophil morphology
7852	CXCR4	HP:0007010	Poor fine motor coordination
7852	CXCR4	HP:0011947	Respiratory tract infection
7852	CXCR4	HP:0001045	Vitiligo
7852	CXCR4	HP:0100658	Cellulitis
7852	CXCR4	HP:0200043	Verrucae
7852	CXCR4	HP:0005561	Abnormality of bone marrow cell morphology
7852	CXCR4	HP:0004315	Decreased circulating IgG level
7852	CXCR4	HP:0004313	Decreased circulating antibody level
7852	CXCR4	HP:0012740	Papilloma
7852	CXCR4	HP:0030079	Cervix cancer
7852	CXCR4	HP:0000246	Sinusitis
7852	CXCR4	HP:0002840	Lymphadenitis
7852	CXCR4	HP:0000388	Otitis media
7852	CXCR4	HP:0006532	Recurrent pneumonia
7852	CXCR4	HP:0001636	Tetralogy of Fallot
7852	CXCR4	HP:0001888	Lymphopenia
7852	CXCR4	HP:0001875	Neutropenia
7862	BRPF1	HP:0001290	Generalized hypotonia
7862	BRPF1	HP:0001249	Intellectual disability
7862	BRPF1	HP:0001263	Global developmental delay
7862	BRPF1	HP:0003828	Variable expressivity
7862	BRPF1	HP:0000006	Autosomal dominant inheritance
7862	BRPF1	HP:0000160	Narrow mouth
7862	BRPF1	HP:0000154	Wide mouth
7862	BRPF1	HP:0002714	Downturned corners of mouth
7862	BRPF1	HP:0003577	Congenital onset
7862	BRPF1	HP:0011968	Feeding difficulties
7862	BRPF1	HP:0004322	Short stature
7862	BRPF1	HP:0031936	Delayed ability to walk
7862	BRPF1	HP:0000750	Delayed speech and language development
7862	BRPF1	HP:0000252	Microcephaly
7862	BRPF1	HP:0001511	Intrauterine growth retardation
7862	BRPF1	HP:0001510	Growth delay
7862	BRPF1	HP:0012385	Camptodactyly
7862	BRPF1	HP:0012368	Flat face
7862	BRPF1	HP:0000377	Abnormal pinna morphology
7862	BRPF1	HP:0000343	Long philtrum
7862	BRPF1	HP:0000337	Broad forehead
7862	BRPF1	HP:0000316	Hypertelorism
7862	BRPF1	HP:0000311	Round face
7862	BRPF1	HP:0000322	Short philtrum
7862	BRPF1	HP:0000486	Strabismus
7862	BRPF1	HP:0000494	Downslanted palpebral fissures
7862	BRPF1	HP:0012447	Abnormal myelination
7862	BRPF1	HP:0001762	Talipes equinovarus
7862	BRPF1	HP:0000431	Wide nasal bridge
7862	BRPF1	HP:0000508	Ptosis
7862	BRPF1	HP:0000581	Blepharophimosis
7867	MAPKAPK3	HP:0007401	Macular atrophy
7867	MAPKAPK3	HP:0000006	Autosomal dominant inheritance
7867	MAPKAPK3	HP:0007663	Reduced visual acuity
7867	MAPKAPK3	HP:0011462	Young adult onset
7867	MAPKAPK3	HP:0011506	Choroidal neovascularization
7867	MAPKAPK3	HP:0000510	Rod-cone dystrophy
7871	SLMAP	HP:0001279	Syncope
7871	SLMAP	HP:0011715	Trifascicular block
7871	SLMAP	HP:0011712	Right bundle branch block
7871	SLMAP	HP:0011704	Sick sinus syndrome
7871	SLMAP	HP:0011705	First degree atrioventricular block
7871	SLMAP	HP:0004755	Supraventricular tachycardia
7871	SLMAP	HP:0004751	Paroxysmal ventricular tachycardia
7871	SLMAP	HP:0004308	Ventricular arrhythmia
7871	SLMAP	HP:0012251	ST segment elevation
7871	SLMAP	HP:0001695	Cardiac arrest
7871	SLMAP	HP:0001649	Tachycardia
7871	SLMAP	HP:0001663	Ventricular fibrillation
7874	USP7	HP:0025160	Abnormal temper tantrums
7874	USP7	HP:0001290	Generalized hypotonia
7874	USP7	HP:0001288	Gait disturbance
7874	USP7	HP:0001250	Seizure
7874	USP7	HP:0001252	Hypotonia
7874	USP7	HP:0001249	Intellectual disability
7874	USP7	HP:0001263	Global developmental delay
7874	USP7	HP:0008770	Obsessive-compulsive trait
7874	USP7	HP:0410263	Brain imaging abnormality
7874	USP7	HP:0001371	Flexion contracture
7874	USP7	HP:0000054	Micropenis
7874	USP7	HP:0001385	Hip dysplasia
7874	USP7	HP:0001357	Plagiocephaly
7874	USP7	HP:0000028	Cryptorchidism
7874	USP7	HP:0008872	Feeding difficulties in infancy
7874	USP7	HP:0001344	Absent speech
7874	USP7	HP:0000006	Autosomal dominant inheritance
7874	USP7	HP:0002650	Scoliosis
7874	USP7	HP:0001319	Neonatal hypotonia
7874	USP7	HP:0012166	Skin-picking
7874	USP7	HP:0000135	Hypogonadism
7874	USP7	HP:0002020	Gastroesophageal reflux
7874	USP7	HP:0002033	Poor suck
7874	USP7	HP:0002028	Chronic diarrhea
7874	USP7	HP:0002099	Asthma
7874	USP7	HP:0002079	Hypoplasia of the corpus callosum
7874	USP7	HP:0002119	Ventriculomegaly
7874	USP7	HP:0002186	Apraxia
7874	USP7	HP:0010536	Central sleep apnea
7874	USP7	HP:0010535	Sleep apnea
7874	USP7	HP:0100710	Impulsivity
7874	USP7	HP:0007018	Attention deficit hyperactivity disorder
7874	USP7	HP:0007082	Dilated third ventricle
7874	USP7	HP:0002360	Sleep disturbance
7874	USP7	HP:0200055	Small hand
7874	USP7	HP:0004209	Clinodactyly of the 5th finger
7874	USP7	HP:0000639	Nystagmus
7874	USP7	HP:0001999	Abnormal facial shape
7874	USP7	HP:0004322	Short stature
7874	USP7	HP:0006970	Periventricular leukomalacia
7874	USP7	HP:0000750	Delayed speech and language development
7874	USP7	HP:0000718	Aggressive behavior
7874	USP7	HP:0000729	Autistic behavior
7874	USP7	HP:0012762	Cerebral white matter atrophy
7874	USP7	HP:0004482	Relative macrocephaly
7874	USP7	HP:0000270	Delayed cranial suture closure
7874	USP7	HP:0002808	Kyphosis
7874	USP7	HP:0000243	Trigonocephaly
7874	USP7	HP:0000239	Large fontanelles
7874	USP7	HP:0000238	Hydrocephalus
7874	USP7	HP:0000252	Microcephaly
7874	USP7	HP:0000248	Brachycephaly
7874	USP7	HP:0001558	Decreased fetal movement
7874	USP7	HP:0025502	Overweight
7874	USP7	HP:0001508	Failure to thrive
7874	USP7	HP:0011098	Speech apraxia
7874	USP7	HP:0000365	Hearing impairment
7874	USP7	HP:0000369	Low-set ears
7874	USP7	HP:0000486	Strabismus
7874	USP7	HP:0012450	Chronic constipation
7874	USP7	HP:0001773	Short foot
7874	USP7	HP:0012412	Premature adrenarche
7874	USP7	HP:0001822	Hallux valgus
7874	USP7	HP:0000565	Esotropia
7874	USP7	HP:0000545	Myopia
7879	RAB7A	HP:0002460	Distal muscle weakness
7879	RAB7A	HP:0001284	Areflexia
7879	RAB7A	HP:0001265	Hyporeflexia
7879	RAB7A	HP:0001218	Autoamputation
7879	RAB7A	HP:0000006	Autosomal dominant inheritance
7879	RAB7A	HP:0008944	Distal lower limb amyotrophy
7879	RAB7A	HP:0003378	Axonal degeneration/regeneration
7879	RAB7A	HP:0003376	Steppage gait
7879	RAB7A	HP:0003384	Peripheral axonal atrophy
7879	RAB7A	HP:0003380	Decreased number of peripheral myelinated nerve fibers
7879	RAB7A	HP:0003474	Somatic sensory dysfunction
7879	RAB7A	HP:0003431	Decreased motor nerve conduction velocity
7879	RAB7A	HP:0003438	Absent Achilles reflex
7879	RAB7A	HP:0033383	Decreased compound muscle action potential amplitude
7879	RAB7A	HP:0002380	Fasciculations
7879	RAB7A	HP:0003693	Distal amyotrophy
7879	RAB7A	HP:0009830	Peripheral neuropathy
7879	RAB7A	HP:0007141	Sensorimotor neuropathy
7879	RAB7A	HP:0003621	Juvenile onset
7879	RAB7A	HP:0009053	Distal lower limb muscle weakness
7879	RAB7A	HP:0009027	Foot dorsiflexor weakness
7879	RAB7A	HP:0006937	Impaired distal tactile sensation
7879	RAB7A	HP:0000763	Sensory neuropathy
7879	RAB7A	HP:0001763	Pes planus
7879	RAB7A	HP:0001765	Hammertoe
7879	RAB7A	HP:0001761	Pes cavus
7879	RAB7A	HP:0001810	Dystrophic toenail
7879	RAB7A	HP:0001886	Foot osteomyelitis
7879	RAB7A	HP:0001868	Autoamputation of foot
7915	ALDH5A1	HP:0002487	Hyperkinetic movements
7915	ALDH5A1	HP:0001290	Generalized hypotonia
7915	ALDH5A1	HP:0001272	Cerebellar atrophy
7915	ALDH5A1	HP:0001270	Motor delay
7915	ALDH5A1	HP:0001250	Seizure
7915	ALDH5A1	HP:0001252	Hypotonia
7915	ALDH5A1	HP:0001251	Ataxia
7915	ALDH5A1	HP:0001249	Intellectual disability
7915	ALDH5A1	HP:0001265	Hyporeflexia
7915	ALDH5A1	HP:0001263	Global developmental delay
7915	ALDH5A1	HP:0500253	Increased level of gamma-aminobutyric acid in urine
7915	ALDH5A1	HP:0000007	Autosomal recessive inheritance
7915	ALDH5A1	HP:0410053	Elevated circulating gamma-aminobutyric acid concentration
7915	ALDH5A1	HP:0032528	Elevated urinary 4-hydroxybutyric acid
7915	ALDH5A1	HP:0032530	Decreased succinic semialdehyde dehydrogenase level
7915	ALDH5A1	HP:0032531	Elevated CSF gamma-aminobutyric acid concentration
7915	ALDH5A1	HP:0032532	Elevated CSF 4-hydroxybutyric acid concentration
7915	ALDH5A1	HP:0002069	Bilateral tonic-clonic seizure
7915	ALDH5A1	HP:0002123	Generalized myoclonic seizure
7915	ALDH5A1	HP:0002121	Generalized non-motor (absence) seizure
7915	ALDH5A1	HP:0002133	Status epilepticus
7915	ALDH5A1	HP:0002188	Delayed CNS myelination
7915	ALDH5A1	HP:0003593	Infantile onset
7915	ALDH5A1	HP:0100716	Self-injurious behavior
7915	ALDH5A1	HP:0002353	EEG abnormality
7915	ALDH5A1	HP:0003621	Juvenile onset
7915	ALDH5A1	HP:0001939	Abnormality of metabolism/homeostasis
7915	ALDH5A1	HP:0000752	Hyperactivity
7915	ALDH5A1	HP:0000738	Hallucinations
7915	ALDH5A1	HP:0000739	Anxiety
7915	ALDH5A1	HP:0000750	Delayed speech and language development
7915	ALDH5A1	HP:0000718	Aggressive behavior
7915	ALDH5A1	HP:0000717	Autism
7915	ALDH5A1	HP:0000709	Psychosis
7915	ALDH5A1	HP:0000708	Atypical behavior
7915	ALDH5A1	HP:0011463	Childhood onset
7915	ALDH5A1	HP:0011462	Young adult onset
7915	ALDH5A1	HP:0000496	Abnormality of eye movement
7920	ABHD16A	HP:0002460	Distal muscle weakness
7920	ABHD16A	HP:0001251	Ataxia
7920	ABHD16A	HP:0001249	Intellectual disability
7920	ABHD16A	HP:0001266	Choreoathetosis
7920	ABHD16A	HP:0001263	Global developmental delay
7920	ABHD16A	HP:0001258	Spastic paraplegia
7920	ABHD16A	HP:0002540	Inability to walk
7920	ABHD16A	HP:0001347	Hyperreflexia
7920	ABHD16A	HP:0033725	Thin corpus callosum
7920	ABHD16A	HP:0001344	Absent speech
7920	ABHD16A	HP:0000007	Autosomal recessive inheritance
7920	ABHD16A	HP:0002650	Scoliosis
7920	ABHD16A	HP:0003487	Babinski sign
7920	ABHD16A	HP:0003593	Infantile onset
7920	ABHD16A	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
7920	ABHD16A	HP:0003623	Neonatal onset
7920	ABHD16A	HP:0030891	Periventricular white matter hyperintensities
7920	ABHD16A	HP:0001772	Talipes equinovalgus
7920	ABHD16A	HP:0001776	Bilateral talipes equinovarus
7922	SLC39A7	HP:0000007	Autosomal recessive inheritance
7922	SLC39A7	HP:0002718	Recurrent bacterial infections
7922	SLC39A7	HP:0003593	Infantile onset
7922	SLC39A7	HP:0001051	Seborrheic dermatitis
7922	SLC39A7	HP:0003623	Neonatal onset
7922	SLC39A7	HP:0011463	Childhood onset
7922	SLC39A7	HP:0004432	Agammaglobulinemia
7922	SLC39A7	HP:0000976	Eczematoid dermatitis
7922	SLC39A7	HP:0001508	Failure to thrive
7922	SLC39A7	HP:0000407	Sensorineural hearing impairment
7922	SLC39A7	HP:0030252	Absent circulating B cells
7922	SLC39A7	HP:0001873	Thrombocytopenia
7941	PLA2G7	HP:0000007	Autosomal recessive inheritance
7941	PLA2G7	HP:0000006	Autosomal dominant inheritance
7941	PLA2G7	HP:0001426	Multifactorial inheritance
7941	PLA2G7	HP:0002099	Asthma
7941	PLA2G7	HP:4000007	Bronchoconstriction
7941	PLA2G7	HP:0003193	Allergic rhinitis
7941	PLA2G7	HP:0003212	Increased circulating IgE level
7941	PLA2G7	HP:0000964	Eczema
7941	PLA2G7	HP:0040175	Platelet-activating factor acetylhydrolase deficiency
7941	PLA2G7	HP:0040178	Increased level of platelet-activating factor
7941	PLA2G7	HP:0032933	Airway hyperresponsiveness
7957	EPM2A	HP:0007270	Atypical absence seizure
7957	EPM2A	HP:0001268	Mental deterioration
7957	EPM2A	HP:0001289	Confusion
7957	EPM2A	HP:0001288	Gait disturbance
7957	EPM2A	HP:0001250	Seizure
7957	EPM2A	HP:0001251	Ataxia
7957	EPM2A	HP:0001260	Dysarthria
7957	EPM2A	HP:0001257	Spasticity
7957	EPM2A	HP:0007359	Focal-onset seizure
7957	EPM2A	HP:0007334	Bilateral tonic-clonic seizure with focal onset
7957	EPM2A	HP:0002540	Inability to walk
7957	EPM2A	HP:0002521	Hypsarrhythmia
7957	EPM2A	HP:0001399	Hepatic failure
7957	EPM2A	HP:0025357	Erratic myoclonus
7957	EPM2A	HP:0007537	Severe photosensitivity
7957	EPM2A	HP:0000007	Autosomal recessive inheritance
7957	EPM2A	HP:0001336	Myoclonus
7957	EPM2A	HP:0001312	Giant somatosensory evoked potentials
7957	EPM2A	HP:0002069	Bilateral tonic-clonic seizure
7957	EPM2A	HP:0040288	Nasogastric tube feeding
7957	EPM2A	HP:0002123	Generalized myoclonic seizure
7957	EPM2A	HP:0002121	Generalized non-motor (absence) seizure
7957	EPM2A	HP:0002133	Status epilepticus
7957	EPM2A	HP:0002100	Recurrent aspiration pneumonia
7957	EPM2A	HP:0002186	Apraxia
7957	EPM2A	HP:0002384	Focal impaired awareness seizure
7957	EPM2A	HP:0002367	Visual hallucinations
7957	EPM2A	HP:0002360	Sleep disturbance
7957	EPM2A	HP:0002344	Progressive neurologic deterioration
7957	EPM2A	HP:0003678	Rapidly progressive
7957	EPM2A	HP:0002315	Headache
7957	EPM2A	HP:0010819	Atonic seizure
7957	EPM2A	HP:0000716	Depression
7957	EPM2A	HP:0000712	Emotional lability
7957	EPM2A	HP:0000726	Dementia
7957	EPM2A	HP:0000709	Psychosis
7957	EPM2A	HP:0100318	Lafora bodies
7957	EPM2A	HP:0000992	Cutaneous photosensitivity
7957	EPM2A	HP:0031358	Vegetative state
7957	EPM2A	HP:0011165	Focal sensory seizure with visual features
7957	EPM2A	HP:0012444	Brain atrophy
7957	EPM2A	HP:0000572	Visual loss
7965	AIMP2	HP:0002415	Leukodystrophy
7965	AIMP2	HP:0001272	Cerebellar atrophy
7965	AIMP2	HP:0001250	Seizure
7965	AIMP2	HP:0002540	Inability to walk
7965	AIMP2	HP:0002521	Hypsarrhythmia
7965	AIMP2	HP:0001371	Flexion contracture
7965	AIMP2	HP:0001347	Hyperreflexia
7965	AIMP2	HP:0001344	Absent speech
7965	AIMP2	HP:0000007	Autosomal recessive inheritance
7965	AIMP2	HP:0002751	Kyphoscoliosis
7965	AIMP2	HP:0002079	Hypoplasia of the corpus callosum
7965	AIMP2	HP:0002059	Cerebral atrophy
7965	AIMP2	HP:0002187	Intellectual disability, profound
7965	AIMP2	HP:0003593	Infantile onset
7965	AIMP2	HP:0011968	Feeding difficulties
7965	AIMP2	HP:0003676	Progressive
7965	AIMP2	HP:0001007	Hirsutism
7965	AIMP2	HP:0009765	Low hanging columella
7965	AIMP2	HP:0000687	Widely spaced teeth
7965	AIMP2	HP:0012736	Profound global developmental delay
7965	AIMP2	HP:0000252	Microcephaly
7965	AIMP2	HP:0000212	Gingival overgrowth
7965	AIMP2	HP:0001522	Death in infancy
7965	AIMP2	HP:0001510	Growth delay
7965	AIMP2	HP:0000303	Mandibular prognathia
7965	AIMP2	HP:0012471	Thick vermilion border
7965	AIMP2	HP:0000463	Anteverted nares
7979	SEM1	HP:0001171	Split hand
7979	SEM1	HP:0006101	Finger syndactyly
7979	SEM1	HP:0012165	Oligodactyly
7979	SEM1	HP:0004050	Absent hand
7979	SEM1	HP:0000407	Sensorineural hearing impairment
7979	SEM1	HP:0000526	Aniridia
7991	TUSC3	HP:0010864	Intellectual disability, severe
7991	TUSC3	HP:0001249	Intellectual disability
7991	TUSC3	HP:0001263	Global developmental delay
7991	TUSC3	HP:0000007	Autosomal recessive inheritance
7991	TUSC3	HP:0011463	Childhood onset
7991	TUSC3	HP:0000252	Microcephaly
7994	KAT6A	HP:0001156	Brachydactyly
7994	KAT6A	HP:0002465	Poor speech
7994	KAT6A	HP:0008593	Prominent antitragus
7994	KAT6A	HP:0010864	Intellectual disability, severe
7994	KAT6A	HP:0007210	Lower limb amyotrophy
7994	KAT6A	HP:0001290	Generalized hypotonia
7994	KAT6A	HP:0100818	Long thorax
7994	KAT6A	HP:0001250	Seizure
7994	KAT6A	HP:0001252	Hypotonia
7994	KAT6A	HP:0001249	Intellectual disability
7994	KAT6A	HP:0001263	Global developmental delay
7994	KAT6A	HP:0002562	Low-set nipples
7994	KAT6A	HP:0002566	Intestinal malrotation
7994	KAT6A	HP:0008689	Bilateral cryptorchidism
7994	KAT6A	HP:0002553	Highly arched eyebrow
7994	KAT6A	HP:0025336	Delayed ability to sit
7994	KAT6A	HP:0025325	Sparse medial eyebrow
7994	KAT6A	HP:0001363	Craniosynostosis
7994	KAT6A	HP:0001357	Plagiocephaly
7994	KAT6A	HP:0000028	Cryptorchidism
7994	KAT6A	HP:0006185	Enlarged proximal interphalangeal joints
7994	KAT6A	HP:0001332	Dystonia
7994	KAT6A	HP:0000010	Recurrent urinary tract infections
7994	KAT6A	HP:0001344	Absent speech
7994	KAT6A	HP:0000006	Autosomal dominant inheritance
7994	KAT6A	HP:0001319	Neonatal hypotonia
7994	KAT6A	HP:0002643	Neonatal respiratory distress
7994	KAT6A	HP:0000160	Narrow mouth
7994	KAT6A	HP:0000175	Cleft palate
7994	KAT6A	HP:0000154	Wide mouth
7994	KAT6A	HP:0001480	Freckling
7994	KAT6A	HP:0006342	Peg-shaped maxillary lateral incisors
7994	KAT6A	HP:0007678	Lacrimal duct stenosis
7994	KAT6A	HP:0008936	Axial hypotonia
7994	KAT6A	HP:0002780	Bronchomalacia
7994	KAT6A	HP:0000126	Hydronephrosis
7994	KAT6A	HP:0002714	Downturned corners of mouth
7994	KAT6A	HP:0002020	Gastroesophageal reflux
7994	KAT6A	HP:0002015	Dysphagia
7994	KAT6A	HP:0002007	Frontal bossing
7994	KAT6A	HP:0011800	Midface retrusion
7994	KAT6A	HP:0002098	Respiratory distress
7994	KAT6A	HP:0100559	Lower limb asymmetry
7994	KAT6A	HP:0002141	Gait imbalance
7994	KAT6A	HP:0002100	Recurrent aspiration pneumonia
7994	KAT6A	HP:0011939	3-4 finger cutaneous syndactyly
7994	KAT6A	HP:0003577	Congenital onset
7994	KAT6A	HP:0100704	Cerebral visual impairment
7994	KAT6A	HP:0003552	Muscle stiffness
7994	KAT6A	HP:0002205	Recurrent respiratory infections
7994	KAT6A	HP:0100785	Insomnia
7994	KAT6A	HP:0011968	Feeding difficulties
7994	KAT6A	HP:0020045	Esodeviation
7994	KAT6A	HP:0002360	Sleep disturbance
7994	KAT6A	HP:0009765	Low hanging columella
7994	KAT6A	HP:0006895	Lower limb hypertonia
7994	KAT6A	HP:0000646	Amblyopia
7994	KAT6A	HP:0000648	Optic atrophy
7994	KAT6A	HP:0010051	Deviation of the hallux
7994	KAT6A	HP:0001999	Abnormal facial shape
7994	KAT6A	HP:0004322	Short stature
7994	KAT6A	HP:0031936	Delayed ability to walk
7994	KAT6A	HP:0000767	Pectus excavatum
7994	KAT6A	HP:0012724	Upper eyelid edema
7994	KAT6A	HP:0000729	Autistic behavior
7994	KAT6A	HP:0011451	Primary microcephaly
7994	KAT6A	HP:0010109	Short hallux
7994	KAT6A	HP:0000774	Narrow chest
7994	KAT6A	HP:0009129	Upper limb amyotrophy
7994	KAT6A	HP:0003186	Inverted nipples
7994	KAT6A	HP:0004467	Preauricular pit
7994	KAT6A	HP:0040080	Anteverted ears
7994	KAT6A	HP:0045074	Thin eyebrow
7994	KAT6A	HP:0000286	Epicanthus
7994	KAT6A	HP:0000276	Long face
7994	KAT6A	HP:0000252	Microcephaly
7994	KAT6A	HP:0000219	Thin upper lip vermilion
7994	KAT6A	HP:0001544	Prominent umbilicus
7994	KAT6A	HP:0002857	Genu valgum
7994	KAT6A	HP:0001538	Protuberant abdomen
7994	KAT6A	HP:0001511	Intrauterine growth retardation
7994	KAT6A	HP:0001510	Growth delay
7994	KAT6A	HP:0000385	Small earlobe
7994	KAT6A	HP:0000395	Prominent antihelix
7994	KAT6A	HP:0000389	Chronic otitis media
7994	KAT6A	HP:0001601	Laryngomalacia
7994	KAT6A	HP:0000358	Posteriorly rotated ears
7994	KAT6A	HP:0000369	Low-set ears
7994	KAT6A	HP:0000368	Low-set, posteriorly rotated ears
7994	KAT6A	HP:0000341	Narrow forehead
7994	KAT6A	HP:0001684	Secundum atrial septal defect
7994	KAT6A	HP:0001643	Patent ductus arteriosus
7994	KAT6A	HP:0001642	Pulmonic stenosis
7994	KAT6A	HP:0000322	Short philtrum
7994	KAT6A	HP:0000325	Triangular face
7994	KAT6A	HP:0000324	Facial asymmetry
7994	KAT6A	HP:0001629	Ventricular septal defect
7994	KAT6A	HP:0002970	Genu varum
7994	KAT6A	HP:0000308	Microretrognathia
7994	KAT6A	HP:0000307	Pointed chin
7994	KAT6A	HP:0001631	Atrial septal defect
7994	KAT6A	HP:0000303	Mandibular prognathia
7994	KAT6A	HP:0006610	Wide intermamillary distance
7994	KAT6A	HP:0000403	Recurrent otitis media
7994	KAT6A	HP:0000483	Astigmatism
7994	KAT6A	HP:0000486	Strabismus
7994	KAT6A	HP:0000490	Deeply set eye
7994	KAT6A	HP:0000455	Broad nasal tip
7994	KAT6A	HP:0000456	Bifid nasal tip
7994	KAT6A	HP:0000465	Webbed neck
7994	KAT6A	HP:0001763	Pes planus
7994	KAT6A	HP:0001765	Hammertoe
7994	KAT6A	HP:0000426	Prominent nasal bridge
7994	KAT6A	HP:0011272	Underdeveloped tragus
7994	KAT6A	HP:0001852	Sandal gap
7994	KAT6A	HP:0000520	Proptosis
7994	KAT6A	HP:0000509	Conjunctivitis
7994	KAT6A	HP:0000508	Ptosis
7994	KAT6A	HP:0000565	Esotropia
7994	KAT6A	HP:0000545	Myopia
8013	NR4A3	HP:0001428	Somatic mutation
8013	NR4A3	HP:0006765	Chondrosarcoma
8021	NUP214	HP:0001290	Generalized hypotonia
8021	NUP214	HP:0001276	Hypertonia
8021	NUP214	HP:0001272	Cerebellar atrophy
8021	NUP214	HP:0001250	Seizure
8021	NUP214	HP:0001252	Hypotonia
8021	NUP214	HP:0001251	Ataxia
8021	NUP214	HP:0001263	Global developmental delay
8021	NUP214	HP:0001257	Spasticity
8021	NUP214	HP:0010982	Polygenic inheritance
8021	NUP214	HP:0003819	Death in childhood
8021	NUP214	HP:0001347	Hyperreflexia
8021	NUP214	HP:0000007	Autosomal recessive inheritance
8021	NUP214	HP:0000006	Autosomal dominant inheritance
8021	NUP214	HP:0001336	Myoclonus
8021	NUP214	HP:0002643	Neonatal respiratory distress
8021	NUP214	HP:0002783	Recurrent lower respiratory tract infections
8021	NUP214	HP:0001428	Somatic mutation
8021	NUP214	HP:0002020	Gastroesophageal reflux
8021	NUP214	HP:0002033	Poor suck
8021	NUP214	HP:0002013	Vomiting
8021	NUP214	HP:0002098	Respiratory distress
8021	NUP214	HP:0002069	Bilateral tonic-clonic seizure
8021	NUP214	HP:0002059	Cerebral atrophy
8021	NUP214	HP:0002104	Apnea
8021	NUP214	HP:0002283	Global brain atrophy
8021	NUP214	HP:0011968	Feeding difficulties
8021	NUP214	HP:0004808	Acute myeloid leukemia
8021	NUP214	HP:0002376	Developmental regression
8021	NUP214	HP:0003676	Progressive
8021	NUP214	HP:0003623	Neonatal onset
8021	NUP214	HP:0040213	Hypopnea
8021	NUP214	HP:0000961	Cyanosis
8021	NUP214	HP:0000252	Microcephaly
8021	NUP214	HP:0001522	Death in infancy
8021	NUP214	HP:0001508	Failure to thrive
8021	NUP214	HP:0002902	Hyponatremia
8021	NUP214	HP:0002900	Hypokalemia
8021	NUP214	HP:0006721	Acute lymphoblastic leukemia
8021	NUP214	HP:0012510	Extra-axial cerebrospinal fluid accumulation
8022	LHX3	HP:0001161	Hand polydactyly
8022	LHX3	HP:0001274	Agenesis of corpus callosum
8022	LHX3	HP:0001254	Lethargy
8022	LHX3	HP:0001252	Hypotonia
8022	LHX3	HP:0001249	Intellectual disability
8022	LHX3	HP:0001265	Hyporeflexia
8022	LHX3	HP:0031098	Decreased thyroid-stimulating hormone level
8022	LHX3	HP:0000044	Hypogonadotropic hypogonadism
8022	LHX3	HP:0008872	Feeding difficulties in infancy
8022	LHX3	HP:0008828	Delayed proximal femoral epiphyseal ossification
8022	LHX3	HP:0000007	Autosomal recessive inheritance
8022	LHX3	HP:0001317	Abnormal cerebellum morphology
8022	LHX3	HP:0025483	Abnormal circulating thyroglobulin level
8022	LHX3	HP:0000158	Macroglossia
8022	LHX3	HP:0031218	Inappropriate antidiuretic hormone secretion
8022	LHX3	HP:0031219	Reduced radioactive iodine uptake
8022	LHX3	HP:0002019	Constipation
8022	LHX3	HP:0005990	Thyroid hypoplasia
8022	LHX3	HP:0004637	Decreased cervical spine mobility
8022	LHX3	HP:0011800	Midface retrusion
8022	LHX3	HP:0002045	Hypothermia
8022	LHX3	HP:0011755	Ectopic posterior pituitary
8022	LHX3	HP:0011748	Adrenocorticotropic hormone deficiency
8022	LHX3	HP:0005930	Abnormal epiphysis morphology
8022	LHX3	HP:0003423	Thoracolumbar kyphoscoliosis
8022	LHX3	HP:0008245	Pituitary hypothyroidism
8022	LHX3	HP:0008213	Gonadotropin deficiency
8022	LHX3	HP:0008202	Reduced circulating prolactin concentration
8022	LHX3	HP:0010627	Anterior pituitary hypoplasia
8022	LHX3	HP:0001943	Hypoglycemia
8022	LHX3	HP:0000609	Optic nerve hypoplasia
8022	LHX3	HP:0001999	Abnormal facial shape
8022	LHX3	HP:0004322	Short stature
8022	LHX3	HP:0011437	Maternal autoimmune disease
8022	LHX3	HP:0012758	Neurodevelopmental delay
8022	LHX3	HP:0004491	Large posterior fontanelle
8022	LHX3	HP:0000871	Panhypopituitarism
8022	LHX3	HP:0000839	Pituitary dwarfism
8022	LHX3	HP:0000830	Anterior hypopituitarism
8022	LHX3	HP:0000824	Decreased response to growth hormone stimulation test
8022	LHX3	HP:0040075	Hypopituitarism
8022	LHX3	HP:0009381	Short finger
8022	LHX3	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency
8022	LHX3	HP:0000282	Facial edema
8022	LHX3	HP:0000270	Delayed cranial suture closure
8022	LHX3	HP:0025502	Overweight
8022	LHX3	HP:0001537	Umbilical hernia
8022	LHX3	HP:0001510	Growth delay
8022	LHX3	HP:0031507	Decreased circulating T4 concentration
8022	LHX3	HP:0012378	Fatigue
8022	LHX3	HP:0006579	Prolonged neonatal jaundice
8022	LHX3	HP:0002920	Decreased circulating ACTH level
8022	LHX3	HP:0001662	Bradycardia
8022	LHX3	HP:0000407	Sensorineural hearing impairment
8022	LHX3	HP:0005280	Depressed nasal bridge
8022	LHX3	HP:0000470	Short neck
8022	LHX3	HP:0030344	Decreased circulating luteinizing hormone level
8022	LHX3	HP:0030341	Decreased circulating follicle stimulating hormone concentration
8022	LHX3	HP:0011220	Prominent forehead
8028	MLLT10	HP:0000006	Autosomal dominant inheritance
8028	MLLT10	HP:0001428	Somatic mutation
8028	MLLT10	HP:0004808	Acute myeloid leukemia
8029	CUBN	HP:0410216	Abnormal blood 5-methyltetrahydrofolate level
8029	CUBN	HP:0001289	Confusion
8029	CUBN	HP:0001252	Hypotonia
8029	CUBN	HP:0000083	Renal insufficiency
8029	CUBN	HP:0000093	Proteinuria
8029	CUBN	HP:0000007	Autosomal recessive inheritance
8029	CUBN	HP:0032566	Oval macrocytosis
8029	CUBN	HP:0002721	Immunodeficiency
8029	CUBN	HP:0002019	Constipation
8029	CUBN	HP:0002013	Vomiting
8029	CUBN	HP:0100502	Vitamin B12 deficiency
8029	CUBN	HP:0003474	Somatic sensory dysfunction
8029	CUBN	HP:0003401	Paresthesia
8029	CUBN	HP:0200118	Malabsorption of Vitamin B12
8029	CUBN	HP:0020061	Abnormal hemoglobin concentration
8029	CUBN	HP:0004823	Anisopoikilocytosis
8029	CUBN	HP:0004821	Hypersegmentation of neutrophil nuclei
8029	CUBN	HP:0002376	Developmental regression
8029	CUBN	HP:0001972	Macrocytic anemia
8029	CUBN	HP:0001923	Reticulocytosis
8029	CUBN	HP:0004396	Poor appetite
8029	CUBN	HP:0031936	Delayed ability to walk
8029	CUBN	HP:0000750	Delayed speech and language development
8029	CUBN	HP:0000726	Dementia
8029	CUBN	HP:0000707	Abnormality of the nervous system
8029	CUBN	HP:0011463	Childhood onset
8029	CUBN	HP:0040087	Abnormal blood folate concentration
8029	CUBN	HP:0000980	Pallor
8029	CUBN	HP:0000206	Glossitis
8029	CUBN	HP:0001508	Failure to thrive
8029	CUBN	HP:0002907	Microscopic hematuria
8029	CUBN	HP:0001649	Tachycardia
8029	CUBN	HP:0030318	Angular cheilitis
8029	CUBN	HP:0001824	Weight loss
8029	CUBN	HP:0012592	Albuminuria
8029	CUBN	HP:0001892	Abnormal bleeding
8029	CUBN	HP:0001889	Megaloblastic anemia
8029	CUBN	HP:0001873	Thrombocytopenia
8029	CUBN	HP:0001876	Pancytopenia
8029	CUBN	HP:0001875	Neutropenia
8036	SHOC2	HP:0001156	Brachydactyly
8036	SHOC2	HP:0001290	Generalized hypotonia
8036	SHOC2	HP:0001249	Intellectual disability
8036	SHOC2	HP:0001263	Global developmental delay
8036	SHOC2	HP:0001231	Abnormal fingernail morphology
8036	SHOC2	HP:0100840	Aplasia/Hypoplasia of the eyebrow
8036	SHOC2	HP:0000081	Duplicated collecting system
8036	SHOC2	HP:0001388	Joint laxity
8036	SHOC2	HP:0000023	Inguinal hernia
8036	SHOC2	HP:0000028	Cryptorchidism
8036	SHOC2	HP:0006191	Deep palmar crease
8036	SHOC2	HP:0000006	Autosomal dominant inheritance
8036	SHOC2	HP:0000179	Thick lower lip vermilion
8036	SHOC2	HP:0000174	Abnormal palate morphology
8036	SHOC2	HP:0002750	Delayed skeletal maturation
8036	SHOC2	HP:0002002	Deep philtrum
8036	SHOC2	HP:0002079	Hypoplasia of the corpus callosum
8036	SHOC2	HP:0002162	Low posterior hairline
8036	SHOC2	HP:0002212	Curly hair
8036	SHOC2	HP:0002209	Sparse scalp hair
8036	SHOC2	HP:0007018	Attention deficit hyperactivity disorder
8036	SHOC2	HP:0011974	Myelofibrosis
8036	SHOC2	HP:0011968	Feeding difficulties
8036	SHOC2	HP:0001028	Hemangioma
8036	SHOC2	HP:0001003	Multiple lentigines
8036	SHOC2	HP:0009811	Abnormality of the elbow
8036	SHOC2	HP:0032152	Keratosis pilaris
8036	SHOC2	HP:0001928	Abnormality of coagulation
8036	SHOC2	HP:0000670	Carious teeth
8036	SHOC2	HP:0004322	Short stature
8036	SHOC2	HP:0031936	Delayed ability to walk
8036	SHOC2	HP:0000752	Hyperactivity
8036	SHOC2	HP:0000767	Pectus excavatum
8036	SHOC2	HP:0000766	Abnormal sternum morphology
8036	SHOC2	HP:0003196	Short nose
8036	SHOC2	HP:0004482	Relative macrocephaly
8036	SHOC2	HP:0000974	Hyperextensible skin
8036	SHOC2	HP:0000957	Cafe-au-lait spot
8036	SHOC2	HP:0000953	Hyperpigmentation of the skin
8036	SHOC2	HP:0000964	Eczema
8036	SHOC2	HP:0000962	Hyperkeratosis
8036	SHOC2	HP:0008070	Sparse hair
8036	SHOC2	HP:0040169	Loose anagen hair
8036	SHOC2	HP:0008064	Ichthyosis
8036	SHOC2	HP:0000286	Epicanthus
8036	SHOC2	HP:0000256	Macrocephaly
8036	SHOC2	HP:0005108	Abnormal intervertebral disk morphology
8036	SHOC2	HP:0000238	Hydrocephalus
8036	SHOC2	HP:0000218	High palate
8036	SHOC2	HP:0001561	Polyhydramnios
8036	SHOC2	HP:0000233	Thin vermilion border
8036	SHOC2	HP:0001508	Failure to thrive
8036	SHOC2	HP:0001520	Large for gestational age
8036	SHOC2	HP:0001609	Hoarse voice
8036	SHOC2	HP:0000365	Hearing impairment
8036	SHOC2	HP:0000358	Posteriorly rotated ears
8036	SHOC2	HP:0000369	Low-set ears
8036	SHOC2	HP:0000368	Low-set, posteriorly rotated ears
8036	SHOC2	HP:0000341	Narrow forehead
8036	SHOC2	HP:0000337	Broad forehead
8036	SHOC2	HP:0000316	Hypertelorism
8036	SHOC2	HP:0001642	Pulmonic stenosis
8036	SHOC2	HP:0001659	Aortic regurgitation
8036	SHOC2	HP:0001629	Ventricular septal defect
8036	SHOC2	HP:0001639	Hypertrophic cardiomyopathy
8036	SHOC2	HP:0002967	Cubitus valgus
8036	SHOC2	HP:0001631	Atrial septal defect
8036	SHOC2	HP:0000400	Macrotia
8036	SHOC2	HP:0000483	Astigmatism
8036	SHOC2	HP:0000486	Strabismus
8036	SHOC2	HP:0000494	Downslanted palpebral fissures
8036	SHOC2	HP:0000463	Anteverted nares
8036	SHOC2	HP:0000470	Short neck
8036	SHOC2	HP:0000465	Webbed neck
8036	SHOC2	HP:0000527	Long eyelashes
8036	SHOC2	HP:0000508	Ptosis
8036	SHOC2	HP:0001800	Hypoplastic toenails
8036	SHOC2	HP:0011220	Prominent forehead
8036	SHOC2	HP:0000540	Hypermetropia
8036	SHOC2	HP:0000545	Myopia
8048	CSRP3	HP:0000006	Autosomal dominant inheritance
8048	CSRP3	HP:0033755	Increased left ventricular end-diastolic volume
8048	CSRP3	HP:0100578	Lipoatrophy
8048	CSRP3	HP:0003457	EMG abnormality
8048	CSRP3	HP:0004757	Paroxysmal atrial fibrillation
8048	CSRP3	HP:0004756	Ventricular tachycardia
8048	CSRP3	HP:0003581	Adult onset
8048	CSRP3	HP:0012664	Reduced left ventricular ejection fraction
8048	CSRP3	HP:0003198	Myopathy
8048	CSRP3	HP:0003236	Elevated circulating creatine kinase concentration
8048	CSRP3	HP:0034386	Reduced left ventricular endsystolic diameter
8048	CSRP3	HP:0000982	Palmoplantar keratoderma
8048	CSRP3	HP:0005144	Ventricular septal hypertrophy
8048	CSRP3	HP:0001645	Sudden cardiac death
8048	CSRP3	HP:0001644	Dilated cardiomyopathy
8048	CSRP3	HP:0001639	Hypertrophic cardiomyopathy
8048	CSRP3	HP:0001635	Congestive heart failure
8048	CSRP3	HP:0006670	Impaired myocardial contractility
8048	CSRP3	HP:0000407	Sensorineural hearing impairment
8048	CSRP3	HP:0001706	Endocardial fibroelastosis
8048	CSRP3	HP:0001874	Abnormality of neutrophils
8050	PDHX	HP:0002490	Increased CSF lactate
8050	PDHX	HP:0010915	Abnormal circulating pyruvate family amino acid concentration
8050	PDHX	HP:0010864	Intellectual disability, severe
8050	PDHX	HP:0002416	Subependymal cysts
8050	PDHX	HP:0001274	Agenesis of corpus callosum
8050	PDHX	HP:0001273	Abnormal corpus callosum morphology
8050	PDHX	HP:0001250	Seizure
8050	PDHX	HP:0001251	Ataxia
8050	PDHX	HP:0001249	Intellectual disability
8050	PDHX	HP:0001264	Spastic diplegia
8050	PDHX	HP:0001263	Global developmental delay
8050	PDHX	HP:0001258	Spastic paraplegia
8050	PDHX	HP:0003828	Variable expressivity
8050	PDHX	HP:0002510	Spastic tetraplegia
8050	PDHX	HP:0500231	Abnormal CSF pyruvate family amino acid concentration
8050	PDHX	HP:0001332	Dystonia
8050	PDHX	HP:0001338	Partial agenesis of the corpus callosum
8050	PDHX	HP:0000007	Autosomal recessive inheritance
8050	PDHX	HP:0001317	Abnormal cerebellum morphology
8050	PDHX	HP:0001319	Neonatal hypotonia
8050	PDHX	HP:0008936	Axial hypotonia
8050	PDHX	HP:0003348	Hyperalaninemia
8050	PDHX	HP:0002079	Hypoplasia of the corpus callosum
8050	PDHX	HP:0002059	Cerebral atrophy
8050	PDHX	HP:0002151	Increased serum lactate
8050	PDHX	HP:0002119	Ventriculomegaly
8050	PDHX	HP:0002134	Abnormal basal ganglia morphology
8050	PDHX	HP:0002273	Tetraparesis
8050	PDHX	HP:0003577	Congenital onset
8050	PDHX	HP:0003542	Increased serum pyruvate
8050	PDHX	HP:0007010	Poor fine motor coordination
8050	PDHX	HP:0007015	Poor gross motor coordination
8050	PDHX	HP:0002363	Abnormal brainstem morphology
8050	PDHX	HP:0002317	Unsteady gait
8050	PDHX	HP:0007109	Periventricular cysts
8050	PDHX	HP:0000648	Optic atrophy
8050	PDHX	HP:0001942	Metabolic acidosis
8050	PDHX	HP:0000767	Pectus excavatum
8050	PDHX	HP:0003128	Lactic acidosis
8050	PDHX	HP:0000286	Epicanthus
8050	PDHX	HP:0000243	Trigonocephaly
8050	PDHX	HP:0000252	Microcephaly
8050	PDHX	HP:0000218	High palate
8050	PDHX	HP:0001508	Failure to thrive
8050	PDHX	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
8050	PDHX	HP:0000316	Hypertelorism
8050	PDHX	HP:0000496	Abnormality of eye movement
8074	FGF23	HP:0003829	Typified by incomplete penetrance
8074	FGF23	HP:0001324	Muscle weakness
8074	FGF23	HP:0000007	Autosomal recessive inheritance
8074	FGF23	HP:0000006	Autosomal dominant inheritance
8074	FGF23	HP:0002653	Bone pain
8074	FGF23	HP:0000164	Abnormality of the dentition
8074	FGF23	HP:0007618	Subcutaneous calcification
8074	FGF23	HP:0000117	Renal phosphate wasting
8074	FGF23	HP:0002748	Rickets
8074	FGF23	HP:0002749	Osteomalacia
8074	FGF23	HP:0003324	Generalized muscle weakness
8074	FGF23	HP:0100512	Low levels of vitamin D
8074	FGF23	HP:0002150	Hypercalciuria
8074	FGF23	HP:0002148	Hypophosphatemia
8074	FGF23	HP:0020110	Bone fracture
8074	FGF23	HP:0004912	Hypophosphatemic rickets
8074	FGF23	HP:0004322	Short stature
8074	FGF23	HP:0003109	Hyperphosphaturia
8074	FGF23	HP:0030757	Tooth abscess
8074	FGF23	HP:0003155	Elevated circulating alkaline phosphatase concentration
8074	FGF23	HP:0002814	Abnormality of the lower limb
8074	FGF23	HP:0001510	Growth delay
8074	FGF23	HP:0012378	Fatigue
8074	FGF23	HP:0002901	Hypocalcemia
8074	FGF23	HP:0002979	Bowing of the legs
8074	FGF23	HP:0002986	Radial bowing
8074	FGF23	HP:0012408	Medullary nephrocalcinosis
8074	FGF23	HP:0001891	Iron deficiency anemia
8076	MFAP5	HP:0001166	Arachnodactyly
8076	MFAP5	HP:0001297	Stroke
8076	MFAP5	HP:0000098	Tall stature
8076	MFAP5	HP:0002686	Prenatal maternal abnormality
8076	MFAP5	HP:0000023	Inguinal hernia
8076	MFAP5	HP:0000006	Autosomal dominant inheritance
8076	MFAP5	HP:0002650	Scoliosis
8076	MFAP5	HP:0002647	Aortic dissection
8076	MFAP5	HP:0002616	Aortic root aneurysm
8076	MFAP5	HP:0012163	Carotid artery dilatation
8076	MFAP5	HP:0002705	High, narrow palate
8076	MFAP5	HP:0002140	Ischemic stroke
8076	MFAP5	HP:0002138	Subarachnoid hemorrhage
8076	MFAP5	HP:0002107	Pneumothorax
8076	MFAP5	HP:0002105	Hemoptysis
8076	MFAP5	HP:0003581	Adult onset
8076	MFAP5	HP:0003549	Abnormality of connective tissue
8076	MFAP5	HP:0200146	Mucoid extracellular matrix accumulation
8076	MFAP5	HP:0100775	Dural ectasia
8076	MFAP5	HP:0100749	Chest pain
8076	MFAP5	HP:0002326	Transient ischemic attack
8076	MFAP5	HP:0004959	Descending thoracic aorta aneurysm
8076	MFAP5	HP:0004933	Ascending aortic dissection
8076	MFAP5	HP:0004950	Peripheral arterial stenosis
8076	MFAP5	HP:0004944	Dilatation of the cerebral artery
8076	MFAP5	HP:0000767	Pectus excavatum
8076	MFAP5	HP:0000766	Abnormal sternum morphology
8076	MFAP5	HP:0000768	Pectus carinatum
8076	MFAP5	HP:0012727	Thoracic aortic aneurysm
8076	MFAP5	HP:0012763	Paroxysmal dyspnea
8076	MFAP5	HP:0000822	Hypertension
8076	MFAP5	HP:0000978	Bruising susceptibility
8076	MFAP5	HP:0000965	Cutis marmorata
8076	MFAP5	HP:0000278	Retrognathia
8076	MFAP5	HP:0005112	Abdominal aortic aneurysm
8076	MFAP5	HP:0005110	Atrial fibrillation
8076	MFAP5	HP:0000218	High palate
8076	MFAP5	HP:0002875	Exertional dyspnea
8076	MFAP5	HP:0001519	Disproportionate tall stature
8076	MFAP5	HP:0005162	Abnormal left ventricular function
8076	MFAP5	HP:0001677	Coronary artery atherosclerosis
8076	MFAP5	HP:0001647	Bicuspid aortic valve
8076	MFAP5	HP:0000316	Hypertelorism
8076	MFAP5	HP:0001643	Patent ductus arteriosus
8076	MFAP5	HP:0001659	Aortic regurgitation
8076	MFAP5	HP:0001640	Cardiomegaly
8076	MFAP5	HP:0001634	Mitral valve prolapse
8076	MFAP5	HP:0012499	Descending aortic dissection
8076	MFAP5	HP:0006687	Aortic tortuosity
8076	MFAP5	HP:0011106	Hypovolemia
8076	MFAP5	HP:0001763	Pes planus
8076	MFAP5	HP:0000525	Abnormality iris morphology
8085	KMT2D	HP:0001256	Intellectual disability, mild
8085	KMT2D	HP:0001250	Seizure
8085	KMT2D	HP:0001252	Hypotonia
8085	KMT2D	HP:0001249	Intellectual disability
8085	KMT2D	HP:0001260	Dysarthria
8085	KMT2D	HP:0001263	Global developmental delay
8085	KMT2D	HP:0002566	Intestinal malrotation
8085	KMT2D	HP:0008736	Hypoplasia of penis
8085	KMT2D	HP:0008678	Renal hypoplasia/aplasia
8085	KMT2D	HP:0010978	Abnormality of immune system physiology
8085	KMT2D	HP:0007334	Bilateral tonic-clonic seizure with focal onset
8085	KMT2D	HP:0001212	Prominent fingertip pads
8085	KMT2D	HP:0002553	Highly arched eyebrow
8085	KMT2D	HP:0000081	Duplicated collecting system
8085	KMT2D	HP:0000074	Ureteropelvic junction obstruction
8085	KMT2D	HP:0001374	Congenital hip dislocation
8085	KMT2D	HP:0001373	Joint dislocation
8085	KMT2D	HP:0000054	Micropenis
8085	KMT2D	HP:0001385	Hip dysplasia
8085	KMT2D	HP:0001382	Joint hypermobility
8085	KMT2D	HP:0000047	Hypospadias
8085	KMT2D	HP:0000028	Cryptorchidism
8085	KMT2D	HP:0008897	Postnatal growth retardation
8085	KMT2D	HP:0008872	Feeding difficulties in infancy
8085	KMT2D	HP:0007477	Abnormal dermatoglyphics
8085	KMT2D	HP:0000006	Autosomal dominant inheritance
8085	KMT2D	HP:0002650	Scoliosis
8085	KMT2D	HP:0000164	Abnormality of the dentition
8085	KMT2D	HP:0001488	Bilateral ptosis
8085	KMT2D	HP:0000175	Cleft palate
8085	KMT2D	HP:0007655	Eversion of lateral third of lower eyelids
8085	KMT2D	HP:0000126	Hydronephrosis
8085	KMT2D	HP:0002719	Recurrent infections
8085	KMT2D	HP:0002025	Anal stenosis
8085	KMT2D	HP:0002023	Anal atresia
8085	KMT2D	HP:0002024	Malabsorption
8085	KMT2D	HP:0002000	Short columella
8085	KMT2D	HP:0003312	Abnormal form of the vertebral bodies
8085	KMT2D	HP:0003316	Butterfly vertebrae
8085	KMT2D	HP:0100542	Abnormal localization of kidney
8085	KMT2D	HP:0003468	Abnormal vertebral morphology
8085	KMT2D	HP:0002120	Cerebral cortical atrophy
8085	KMT2D	HP:0002119	Ventriculomegaly
8085	KMT2D	HP:0002100	Recurrent aspiration pneumonia
8085	KMT2D	HP:0004736	Crossed fused renal ectopia
8085	KMT2D	HP:0003577	Congenital onset
8085	KMT2D	HP:0011968	Feeding difficulties
8085	KMT2D	HP:0002384	Focal impaired awareness seizure
8085	KMT2D	HP:0001007	Hirsutism
8085	KMT2D	HP:0002353	EEG abnormality
8085	KMT2D	HP:0200055	Small hand
8085	KMT2D	HP:0008428	Vertebral clefting
8085	KMT2D	HP:0000639	Nystagmus
8085	KMT2D	HP:0000637	Long palpebral fissure
8085	KMT2D	HP:0001973	Autoimmune thrombocytopenia
8085	KMT2D	HP:0000691	Microdontia
8085	KMT2D	HP:0000687	Widely spaced teeth
8085	KMT2D	HP:0000668	Hypodontia
8085	KMT2D	HP:0004322	Short stature
8085	KMT2D	HP:0006956	Lateral ventricle dilatation
8085	KMT2D	HP:0005692	Joint hyperflexibility
8085	KMT2D	HP:0011461	Fetal onset
8085	KMT2D	HP:0000776	Congenital diaphragmatic hernia
8085	KMT2D	HP:0004467	Preauricular pit
8085	KMT2D	HP:0000851	Congenital hypothyroidism
8085	KMT2D	HP:0000826	Precocious puberty
8085	KMT2D	HP:0009237	Short 5th finger
8085	KMT2D	HP:0045075	Sparse eyebrow
8085	KMT2D	HP:0100267	Lip pit
8085	KMT2D	HP:0010314	Premature thelarche
8085	KMT2D	HP:0000957	Cafe-au-lait spot
8085	KMT2D	HP:0005819	Short middle phalanx of finger
8085	KMT2D	HP:0000298	Mask-like facies
8085	KMT2D	HP:0002827	Hip dislocation
8085	KMT2D	HP:0000238	Hydrocephalus
8085	KMT2D	HP:0000252	Microcephaly
8085	KMT2D	HP:0000218	High palate
8085	KMT2D	HP:0000202	Orofacial cleft
8085	KMT2D	HP:0001508	Failure to thrive
8085	KMT2D	HP:0001510	Growth delay
8085	KMT2D	HP:0001513	Obesity
8085	KMT2D	HP:0000384	Preauricular skin tag
8085	KMT2D	HP:0005218	Anoperineal fistula
8085	KMT2D	HP:0002937	Hemivertebrae
8085	KMT2D	HP:0001612	Weak cry
8085	KMT2D	HP:0006482	Abnormality of dental morphology
8085	KMT2D	HP:0000365	Hearing impairment
8085	KMT2D	HP:0000358	Posteriorly rotated ears
8085	KMT2D	HP:0000369	Low-set ears
8085	KMT2D	HP:0001671	Abnormal cardiac septum morphology
8085	KMT2D	HP:0001680	Coarctation of aorta
8085	KMT2D	HP:0000347	Micrognathia
8085	KMT2D	HP:0001629	Ventricular septal defect
8085	KMT2D	HP:0001631	Atrial septal defect
8085	KMT2D	HP:0005338	Sparse lateral eyebrow
8085	KMT2D	HP:0000407	Sensorineural hearing impairment
8085	KMT2D	HP:0000403	Recurrent otitis media
8085	KMT2D	HP:0000405	Conductive hearing impairment
8085	KMT2D	HP:0000400	Macrotia
8085	KMT2D	HP:0000486	Strabismus
8085	KMT2D	HP:0000482	Microcornea
8085	KMT2D	HP:0000437	Depressed nasal tip
8085	KMT2D	HP:0000411	Protruding ear
8085	KMT2D	HP:0000431	Wide nasal bridge
8085	KMT2D	HP:0000527	Long eyelashes
8085	KMT2D	HP:0000508	Ptosis
8085	KMT2D	HP:0000592	Blue sclerae
8085	KMT2D	HP:0011231	Prominent eyelashes
8085	KMT2D	HP:0000589	Coloboma
8085	KMT2D	HP:0001878	Hemolytic anemia
8086	AAAS	HP:0009916	Anisocoria
8086	AAAS	HP:0001278	Orthostatic hypotension
8086	AAAS	HP:0001250	Seizure
8086	AAAS	HP:0001252	Hypotonia
8086	AAAS	HP:0001251	Ataxia
8086	AAAS	HP:0001249	Intellectual disability
8086	AAAS	HP:0001260	Dysarthria
8086	AAAS	HP:0001263	Global developmental delay
8086	AAAS	HP:0002571	Achalasia
8086	AAAS	HP:0007440	Generalized hyperpigmentation
8086	AAAS	HP:0001347	Hyperreflexia
8086	AAAS	HP:0007556	Plantar hyperkeratosis
8086	AAAS	HP:0001324	Muscle weakness
8086	AAAS	HP:0000007	Autosomal recessive inheritance
8086	AAAS	HP:0001430	Abnormality of the calf musculature
8086	AAAS	HP:0002093	Respiratory insufficiency
8086	AAAS	HP:0010486	Abnormality of the hypothenar eminence
8086	AAAS	HP:0008163	Decreased circulating cortisol level
8086	AAAS	HP:0003487	Babinski sign
8086	AAAS	HP:0008259	Adrenocorticotropin receptor defect
8086	AAAS	HP:0007002	Motor axonal neuropathy
8086	AAAS	HP:0002376	Developmental regression
8086	AAAS	HP:0003676	Progressive
8086	AAAS	HP:0003621	Juvenile onset
8086	AAAS	HP:0000649	Abnormality of visual evoked potentials
8086	AAAS	HP:0000648	Optic atrophy
8086	AAAS	HP:0000612	Iris coloboma
8086	AAAS	HP:0004322	Short stature
8086	AAAS	HP:0004319	Decreased circulating aldosterone level
8086	AAAS	HP:0011463	Childhood onset
8086	AAAS	HP:0011462	Young adult onset
8086	AAAS	HP:0000830	Anterior hypopituitarism
8086	AAAS	HP:0000846	Adrenal insufficiency
8086	AAAS	HP:0000972	Palmoplantar hyperkeratosis
8086	AAAS	HP:0000982	Palmoplantar keratoderma
8086	AAAS	HP:0000953	Hyperpigmentation of the skin
8086	AAAS	HP:0000252	Microcephaly
8086	AAAS	HP:0012332	Abnormal autonomic nervous system physiology
8086	AAAS	HP:0000407	Sensorineural hearing impairment
8086	AAAS	HP:0001761	Pes cavus
8086	AAAS	HP:0000522	Alacrima
8086	AAAS	HP:0000505	Visual impairment
8087	FXR1	HP:0003789	Minicore myopathy
8087	FXR1	HP:0020203	Z-band streaming
8087	FXR1	HP:0003701	Proximal muscle weakness
8087	FXR1	HP:0001270	Motor delay
8087	FXR1	HP:0001284	Areflexia
8087	FXR1	HP:0003803	Type 1 muscle fiber predominance
8087	FXR1	HP:0000050	Hypoplastic male external genitalia
8087	FXR1	HP:0000028	Cryptorchidism
8087	FXR1	HP:0000007	Autosomal recessive inheritance
8087	FXR1	HP:0001308	Tongue fasciculations
8087	FXR1	HP:0001319	Neonatal hypotonia
8087	FXR1	HP:0003458	EMG: myopathic abnormalities
8087	FXR1	HP:0003687	Centrally nucleated skeletal muscle fibers
8087	FXR1	HP:0002304	Akinesia
8087	FXR1	HP:0004322	Short stature
8087	FXR1	HP:0001562	Oligohydramnios
8087	FXR1	HP:0001558	Decreased fetal movement
8087	FXR1	HP:0001522	Death in infancy
8087	FXR1	HP:0002870	Obstructive sleep apnea
8087	FXR1	HP:0001513	Obesity
8087	FXR1	HP:0012548	Fatty replacement of skeletal muscle
8091	HMGA2	HP:0001159	Syndactyly
8091	HMGA2	HP:0001270	Motor delay
8091	HMGA2	HP:0001256	Intellectual disability, mild
8091	HMGA2	HP:0001252	Hypotonia
8091	HMGA2	HP:0002579	Gastrointestinal dysmotility
8091	HMGA2	HP:0001263	Global developmental delay
8091	HMGA2	HP:0002566	Intestinal malrotation
8091	HMGA2	HP:0000089	Renal hypoplasia
8091	HMGA2	HP:0000086	Ectopic kidney
8091	HMGA2	HP:0000085	Horseshoe kidney
8091	HMGA2	HP:0000045	Abnormality of the scrotum
8091	HMGA2	HP:0000048	Bifid scrotum
8091	HMGA2	HP:0000047	Hypospadias
8091	HMGA2	HP:0000023	Inguinal hernia
8091	HMGA2	HP:0000028	Cryptorchidism
8091	HMGA2	HP:0008897	Postnatal growth retardation
8091	HMGA2	HP:0008872	Feeding difficulties in infancy
8091	HMGA2	HP:0001328	Specific learning disability
8091	HMGA2	HP:0001337	Tremor
8091	HMGA2	HP:0000006	Autosomal dominant inheritance
8091	HMGA2	HP:0002650	Scoliosis
8091	HMGA2	HP:0000175	Cleft palate
8091	HMGA2	HP:0001482	Subcutaneous nodule
8091	HMGA2	HP:0006266	Small placenta
8091	HMGA2	HP:0002750	Delayed skeletal maturation
8091	HMGA2	HP:0002714	Downturned corners of mouth
8091	HMGA2	HP:0002007	Frontal bossing
8091	HMGA2	HP:0002099	Asthma
8091	HMGA2	HP:0100555	Asymmetric growth
8091	HMGA2	HP:0003396	Syringomyelia
8091	HMGA2	HP:0010442	Polydactyly
8091	HMGA2	HP:0003561	Birth length less than 3rd percentile
8091	HMGA2	HP:0007018	Attention deficit hyperactivity disorder
8091	HMGA2	HP:0100607	Dysmenorrhea
8091	HMGA2	HP:0010739	Osteopoikilosis
8091	HMGA2	HP:0002308	Chiari malformation
8091	HMGA2	HP:0004209	Clinodactyly of the 5th finger
8091	HMGA2	HP:0001943	Hypoglycemia
8091	HMGA2	HP:0000668	Hypodontia
8091	HMGA2	HP:0000664	Synophrys
8091	HMGA2	HP:0004322	Short stature
8091	HMGA2	HP:0000750	Delayed speech and language development
8091	HMGA2	HP:0004482	Relative macrocephaly
8091	HMGA2	HP:0000819	Diabetes mellitus
8091	HMGA2	HP:0000821	Hypothyroidism
8091	HMGA2	HP:0009237	Short 5th finger
8091	HMGA2	HP:0003202	Skeletal muscle atrophy
8091	HMGA2	HP:0100257	Ectrodactyly
8091	HMGA2	HP:0000957	Cafe-au-lait spot
8091	HMGA2	HP:0000953	Hyperpigmentation of the skin
8091	HMGA2	HP:0000252	Microcephaly
8091	HMGA2	HP:0012211	Abnormal renal physiology
8091	HMGA2	HP:0001562	Oligohydramnios
8091	HMGA2	HP:0000233	Thin vermilion border
8091	HMGA2	HP:0001508	Failure to thrive
8091	HMGA2	HP:0001518	Small for gestational age
8091	HMGA2	HP:0001511	Intrauterine growth retardation
8091	HMGA2	HP:0000369	Low-set ears
8091	HMGA2	HP:0000347	Micrognathia
8091	HMGA2	HP:0000316	Hypertelorism
8091	HMGA2	HP:0000325	Triangular face
8091	HMGA2	HP:0001626	Abnormality of the cardiovascular system
8091	HMGA2	HP:0005288	Abnormal nostril morphology
8091	HMGA2	HP:0000490	Deeply set eye
8091	HMGA2	HP:0030260	Microphallus
8091	HMGA2	HP:0000445	Wide nose
8091	HMGA2	HP:0001743	Abnormality of the spleen
8091	HMGA2	HP:0000426	Prominent nasal bridge
8091	HMGA2	HP:0001804	Hypoplastic fingernail
8091	HMGA2	HP:0011220	Prominent forehead
8091	HMGA2	HP:0000574	Thick eyebrow
8092	ALX1	HP:0001156	Brachydactyly
8092	ALX1	HP:0001274	Agenesis of corpus callosum
8092	ALX1	HP:0001249	Intellectual disability
8092	ALX1	HP:0000007	Autosomal recessive inheritance
8092	ALX1	HP:0000175	Cleft palate
8092	ALX1	HP:0002006	Facial cleft
8092	ALX1	HP:0011803	Bifid nose
8092	ALX1	HP:0002057	Prominent glabella
8092	ALX1	HP:0100490	Camptodactyly of finger
8092	ALX1	HP:0002223	Absent eyebrow
8092	ALX1	HP:0000636	Upper eyelid coloboma
8092	ALX1	HP:0000625	Eyelid coloboma
8092	ALX1	HP:0000653	Sparse eyelashes
8092	ALX1	HP:0006931	Pericallosal lipoma
8092	ALX1	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses
8092	ALX1	HP:0004423	Cranium bifidum occultum
8092	ALX1	HP:0040019	Finger clinodactyly
8092	ALX1	HP:0045075	Sparse eyebrow
8092	ALX1	HP:0000286	Epicanthus
8092	ALX1	HP:0000248	Brachycephaly
8092	ALX1	HP:0000384	Preauricular skin tag
8092	ALX1	HP:0005258	Pectoral muscle hypoplasia/aplasia
8092	ALX1	HP:0000358	Posteriorly rotated ears
8092	ALX1	HP:0000369	Low-set ears
8092	ALX1	HP:0000368	Low-set, posteriorly rotated ears
8092	ALX1	HP:0000349	Widow's peak
8092	ALX1	HP:0000316	Hypertelorism
8092	ALX1	HP:0000327	Hypoplasia of the maxilla
8092	ALX1	HP:0001636	Tetralogy of Fallot
8092	ALX1	HP:0000405	Conductive hearing impairment
8092	ALX1	HP:0000431	Wide nasal bridge
8092	ALX1	HP:0000430	Underdeveloped nasal alae
8092	ALX1	HP:0005466	Hypoplasia of the frontal bone
8092	ALX1	HP:0000518	Cataract
8092	ALX1	HP:0000508	Ptosis
8092	ALX1	HP:0000568	Microphthalmia
8100	IFT88	HP:0001249	Intellectual disability
8100	IFT88	HP:0008736	Hypoplasia of penis
8100	IFT88	HP:0001347	Hyperreflexia
8100	IFT88	HP:0000035	Abnormal testis morphology
8100	IFT88	HP:0000135	Hypogonadism
8100	IFT88	HP:0007675	Progressive night blindness
8100	IFT88	HP:0005978	Type II diabetes mellitus
8100	IFT88	HP:0000639	Nystagmus
8100	IFT88	HP:0000648	Optic atrophy
8100	IFT88	HP:0000618	Blindness
8100	IFT88	HP:0000613	Photophobia
8100	IFT88	HP:0000602	Ophthalmoplegia
8100	IFT88	HP:0000842	Hyperinsulinemia
8100	IFT88	HP:0000987	Atypical scarring of skin
8100	IFT88	HP:0008046	Abnormal retinal vascular morphology
8100	IFT88	HP:0007703	Abnormality of retinal pigmentation
8100	IFT88	HP:0001513	Obesity
8100	IFT88	HP:0000407	Sensorineural hearing impairment
8100	IFT88	HP:0000405	Conductive hearing impairment
8100	IFT88	HP:0000463	Anteverted nares
8100	IFT88	HP:0000431	Wide nasal bridge
8100	IFT88	HP:0000518	Cataract
8100	IFT88	HP:0000512	Abnormal electroretinogram
8100	IFT88	HP:0000505	Visual impairment
8100	IFT88	HP:0000501	Glaucoma
8100	IFT88	HP:0000563	Keratoconus
8106	PABPN1	HP:0002460	Distal muscle weakness
8106	PABPN1	HP:0003701	Proximal muscle weakness
8106	PABPN1	HP:0001288	Gait disturbance
8106	PABPN1	HP:0001260	Dysarthria
8106	PABPN1	HP:0003805	Rimmed vacuoles
8106	PABPN1	HP:0000006	Autosomal dominant inheritance
8106	PABPN1	HP:0002015	Dysphagia
8106	PABPN1	HP:0003302	Spondylolisthesis
8106	PABPN1	HP:0003584	Late onset
8106	PABPN1	HP:0010628	Facial palsy
8106	PABPN1	HP:0003690	Limb muscle weakness
8106	PABPN1	HP:0003676	Progressive
8106	PABPN1	HP:0000602	Ophthalmoplegia
8106	PABPN1	HP:0000600	Abnormality of the pharynx
8106	PABPN1	HP:0004303	Abnormal muscle fiber morphology
8106	PABPN1	HP:0003198	Myopathy
8106	PABPN1	HP:0003236	Elevated circulating creatine kinase concentration
8106	PABPN1	HP:0003200	Ragged-red muscle fibers
8106	PABPN1	HP:0000298	Mask-like facies
8106	PABPN1	HP:0007838	Progressive ptosis
8106	PABPN1	HP:0000467	Neck muscle weakness
8106	PABPN1	HP:0000508	Ptosis
8111	GPR68	HP:0000007	Autosomal recessive inheritance
8111	GPR68	HP:0006285	Enamel hypomineralization
8111	GPR68	HP:0009102	Anterior open-bite malocclusion
8111	GPR68	HP:0000705	Amelogenesis imperfecta
8120	AP3B2	HP:0002421	Poor head control
8120	AP3B2	HP:0001298	Encephalopathy
8120	AP3B2	HP:0001290	Generalized hypotonia
8120	AP3B2	HP:0001272	Cerebellar atrophy
8120	AP3B2	HP:0001273	Abnormal corpus callosum morphology
8120	AP3B2	HP:0001268	Mental deterioration
8120	AP3B2	HP:0001250	Seizure
8120	AP3B2	HP:0001251	Ataxia
8120	AP3B2	HP:0001249	Intellectual disability
8120	AP3B2	HP:0001265	Hyporeflexia
8120	AP3B2	HP:0001263	Global developmental delay
8120	AP3B2	HP:0001257	Spasticity
8120	AP3B2	HP:0002521	Hypsarrhythmia
8120	AP3B2	HP:0002509	Limb hypertonia
8120	AP3B2	HP:0025336	Delayed ability to sit
8120	AP3B2	HP:0001344	Absent speech
8120	AP3B2	HP:0000007	Autosomal recessive inheritance
8120	AP3B2	HP:0001337	Tremor
8120	AP3B2	HP:0001336	Myoclonus
8120	AP3B2	HP:0001315	Reduced tendon reflexes
8120	AP3B2	HP:0008936	Axial hypotonia
8120	AP3B2	HP:0002020	Gastroesophageal reflux
8120	AP3B2	HP:0002063	Rigidity
8120	AP3B2	HP:0002079	Hypoplasia of the corpus callosum
8120	AP3B2	HP:0002059	Cerebral atrophy
8120	AP3B2	HP:0002133	Status epilepticus
8120	AP3B2	HP:0003593	Infantile onset
8120	AP3B2	HP:0003577	Congenital onset
8120	AP3B2	HP:0100710	Impulsivity
8120	AP3B2	HP:0200134	Epileptic encephalopathy
8120	AP3B2	HP:0007018	Attention deficit hyperactivity disorder
8120	AP3B2	HP:0011968	Feeding difficulties
8120	AP3B2	HP:0002360	Sleep disturbance
8120	AP3B2	HP:0002376	Developmental regression
8120	AP3B2	HP:0002355	Difficulty walking
8120	AP3B2	HP:0002317	Unsteady gait
8120	AP3B2	HP:0010844	EEG with multifocal slow activity
8120	AP3B2	HP:0100660	Dyskinesia
8120	AP3B2	HP:0003623	Neonatal onset
8120	AP3B2	HP:0000639	Nystagmus
8120	AP3B2	HP:0000637	Long palpebral fissure
8120	AP3B2	HP:0000648	Optic atrophy
8120	AP3B2	HP:0000668	Hypodontia
8120	AP3B2	HP:0004322	Short stature
8120	AP3B2	HP:0004305	Involuntary movements
8120	AP3B2	HP:0031936	Delayed ability to walk
8120	AP3B2	HP:0000750	Delayed speech and language development
8120	AP3B2	HP:0000717	Autism
8120	AP3B2	HP:0000708	Atypical behavior
8120	AP3B2	HP:0011443	Abnormality of coordination
8120	AP3B2	HP:0000252	Microcephaly
8120	AP3B2	HP:0001558	Decreased fetal movement
8120	AP3B2	HP:0001508	Failure to thrive
8120	AP3B2	HP:0000348	High forehead
8120	AP3B2	HP:0000494	Downslanted palpebral fissures
8120	AP3B2	HP:0012444	Brain atrophy
8120	AP3B2	HP:0012447	Abnormal myelination
8120	AP3B2	HP:0000510	Rod-cone dystrophy
8120	AP3B2	HP:0000527	Long eyelashes
8120	AP3B2	HP:0000520	Proptosis
8120	AP3B2	HP:0000508	Ptosis
8120	AP3B2	HP:0000504	Abnormality of vision
8120	AP3B2	HP:0012547	Abnormal involuntary eye movements
8120	AP3B2	HP:0000546	Retinal degeneration
8120	AP3B2	HP:0000543	Optic disc pallor
8131	NPRL3	HP:0002427	Expressive aphasia
8131	NPRL3	HP:0001250	Seizure
8131	NPRL3	HP:0001249	Intellectual disability
8131	NPRL3	HP:0008765	Auditory hallucinations
8131	NPRL3	HP:0007359	Focal-onset seizure
8131	NPRL3	HP:0002521	Hypsarrhythmia
8131	NPRL3	HP:0003829	Typified by incomplete penetrance
8131	NPRL3	HP:0025373	Interictal EEG abnormality
8131	NPRL3	HP:0012005	Deja vu aura
8131	NPRL3	HP:0000006	Autosomal dominant inheritance
8131	NPRL3	HP:0031284	Flushing
8131	NPRL3	HP:0100543	Cognitive impairment
8131	NPRL3	HP:0002069	Bilateral tonic-clonic seizure
8131	NPRL3	HP:0002126	Polymicrogyria
8131	NPRL3	HP:0003401	Paresthesia
8131	NPRL3	HP:0032046	Focal cortical dysplasia
8131	NPRL3	HP:0032052	Focal cortical dysplasia type IIa
8131	NPRL3	HP:0002384	Focal impaired awareness seizure
8131	NPRL3	HP:0002367	Visual hallucinations
8131	NPRL3	HP:0002349	Focal aware seizure
8131	NPRL3	HP:0010841	Multifocal epileptiform discharges
8131	NPRL3	HP:0007206	Hemimegalencephaly
8131	NPRL3	HP:0031951	Nocturnal seizures
8131	NPRL3	HP:0000729	Autistic behavior
8131	NPRL3	HP:0000708	Atypical behavior
8131	NPRL3	HP:0000980	Pallor
8131	NPRL3	HP:0011185	EEG with focal epileptiform discharges
8131	NPRL3	HP:0011171	Simple febrile seizure
8131	NPRL3	HP:0012469	Infantile spasms
8131	NPRL3	HP:0012531	Pain
8139	GAN	HP:0002460	Distal muscle weakness
8139	GAN	HP:0007256	Abnormal pyramidal sign
8139	GAN	HP:0003701	Proximal muscle weakness
8139	GAN	HP:0001290	Generalized hypotonia
8139	GAN	HP:0001270	Motor delay
8139	GAN	HP:0001284	Areflexia
8139	GAN	HP:0001249	Intellectual disability
8139	GAN	HP:0001260	Dysarthria
8139	GAN	HP:0001258	Spastic paraplegia
8139	GAN	HP:0001257	Spasticity
8139	GAN	HP:0002527	Falls
8139	GAN	HP:0002522	Areflexia of lower limbs
8139	GAN	HP:0001382	Joint hypermobility
8139	GAN	HP:0001347	Hyperreflexia
8139	GAN	HP:0000007	Autosomal recessive inheritance
8139	GAN	HP:0002650	Scoliosis
8139	GAN	HP:0001317	Abnormal cerebellum morphology
8139	GAN	HP:0002600	Hyporeflexia of lower limbs
8139	GAN	HP:0002013	Vomiting
8139	GAN	HP:0002062	Morphological abnormality of the pyramidal tract
8139	GAN	HP:0003390	Sensory axonal neuropathy
8139	GAN	HP:0003376	Steppage gait
8139	GAN	HP:0003380	Decreased number of peripheral myelinated nerve fibers
8139	GAN	HP:0005922	Abnormal hand morphology
8139	GAN	HP:0003487	Babinski sign
8139	GAN	HP:0003429	CNS hypomyelination
8139	GAN	HP:0003405	Diffuse axonal swelling
8139	GAN	HP:0003593	Infantile onset
8139	GAN	HP:0002224	Woolly hair
8139	GAN	HP:0002235	Pili canaliculi
8139	GAN	HP:0002212	Curly hair
8139	GAN	HP:0007002	Motor axonal neuropathy
8139	GAN	HP:0010628	Facial palsy
8139	GAN	HP:0003693	Distal amyotrophy
8139	GAN	HP:0003690	Limb muscle weakness
8139	GAN	HP:0002355	Difficulty walking
8139	GAN	HP:0003677	Slowly progressive
8139	GAN	HP:0002317	Unsteady gait
8139	GAN	HP:0003621	Juvenile onset
8139	GAN	HP:0000639	Nystagmus
8139	GAN	HP:0000613	Photophobia
8139	GAN	HP:0006956	Lateral ventricle dilatation
8139	GAN	HP:0000256	Macrocephaly
8139	GAN	HP:0005109	Abnormality of the Achilles tendon
8139	GAN	HP:0002857	Genu valgum
8139	GAN	HP:0002936	Distal sensory impairment
8139	GAN	HP:0000486	Strabismus
8139	GAN	HP:0001763	Pes planus
8139	GAN	HP:0001762	Talipes equinovarus
8139	GAN	HP:0001761	Pes cavus
8139	GAN	HP:0012503	Abnormality of the pituitary gland
8148	TAF15	HP:0001257	Spasticity
8148	TAF15	HP:0007373	Motor neuron atrophy
8148	TAF15	HP:0007354	Amyotrophic lateral sclerosis
8148	TAF15	HP:0025425	Laryngospasm
8148	TAF15	HP:0002795	Abnormal respiratory system physiology
8148	TAF15	HP:0001428	Somatic mutation
8148	TAF15	HP:0002017	Nausea and vomiting
8148	TAF15	HP:0003324	Generalized muscle weakness
8148	TAF15	HP:0002094	Dyspnea
8148	TAF15	HP:0003394	Muscle spasm
8148	TAF15	HP:0003470	Paralysis
8148	TAF15	HP:0002180	Neurodegeneration
8148	TAF15	HP:0000739	Anxiety
8148	TAF15	HP:0000716	Depression
8148	TAF15	HP:0000712	Emotional lability
8148	TAF15	HP:0000713	Agitation
8148	TAF15	HP:0003202	Skeletal muscle atrophy
8148	TAF15	HP:0000217	Xerostomia
8148	TAF15	HP:0002878	Respiratory failure
8148	TAF15	HP:0012378	Fatigue
8148	TAF15	HP:0030196	Fatigable weakness of respiratory muscles
8148	TAF15	HP:0030195	Fatigable weakness of swallowing muscles
8148	TAF15	HP:0030192	Fatigable weakness of bulbar muscles
8148	TAF15	HP:0006765	Chondrosarcoma
8148	TAF15	HP:0012531	Pain
8192	CLPP	HP:0001250	Seizure
8192	CLPP	HP:0000013	Hypoplasia of the uterus
8192	CLPP	HP:0000007	Autosomal recessive inheritance
8192	CLPP	HP:0010464	Streak ovary
8192	CLPP	HP:0008232	Elevated circulating follicle stimulating hormone level
8192	CLPP	HP:0011969	Elevated circulating luteinizing hormone level
8192	CLPP	HP:0004322	Short stature
8192	CLPP	HP:0000786	Primary amenorrhea
8192	CLPP	HP:0000815	Hypergonadotropic hypogonadism
8192	CLPP	HP:0000252	Microcephaly
8192	CLPP	HP:0000407	Sensorineural hearing impairment
8195	MKKS	HP:0001156	Brachydactyly
8195	MKKS	HP:0001162	Postaxial hand polydactyly
8195	MKKS	HP:0001159	Syndactyly
8195	MKKS	HP:0001249	Intellectual disability
8195	MKKS	HP:0001263	Global developmental delay
8195	MKKS	HP:0006101	Finger syndactyly
8195	MKKS	HP:0008736	Hypoplasia of penis
8195	MKKS	HP:0008724	Hypoplasia of the ovary
8195	MKKS	HP:0008678	Renal hypoplasia/aplasia
8195	MKKS	HP:0001395	Hepatic fibrosis
8195	MKKS	HP:0000072	Hydroureter
8195	MKKS	HP:0001374	Congenital hip dislocation
8195	MKKS	HP:0000047	Hypospadias
8195	MKKS	HP:0000028	Cryptorchidism
8195	MKKS	HP:0006159	Mesoaxial hand polydactyly
8195	MKKS	HP:0000007	Autosomal recessive inheritance
8195	MKKS	HP:0000003	Multicystic kidney dysplasia
8195	MKKS	HP:0000175	Cleft palate
8195	MKKS	HP:0000143	Rectovaginal fistula
8195	MKKS	HP:0000145	Transverse vaginal septum
8195	MKKS	HP:0000135	Hypogonadism
8195	MKKS	HP:0000148	Vaginal atresia
8195	MKKS	HP:0000113	Polycystic kidney dysplasia
8195	MKKS	HP:0000126	Hydronephrosis
8195	MKKS	HP:0000100	Nephrotic syndrome
8195	MKKS	HP:0000107	Renal cyst
8195	MKKS	HP:0002023	Anal atresia
8195	MKKS	HP:0002089	Pulmonary hypoplasia
8195	MKKS	HP:0005916	Abnormal metacarpal morphology
8195	MKKS	HP:0002167	Abnormality of speech or vocalization
8195	MKKS	HP:0003577	Congenital onset
8195	MKKS	HP:0002251	Aganglionic megacolon
8195	MKKS	HP:0002230	Generalized hirsutism
8195	MKKS	HP:0100779	Urogenital sinus anomaly
8195	MKKS	HP:0008368	Tarsal synostosis
8195	MKKS	HP:0010747	Medial flaring of the eyebrow
8195	MKKS	HP:0010741	Pedal edema
8195	MKKS	HP:0000639	Nystagmus
8195	MKKS	HP:0004322	Short stature
8195	MKKS	HP:0030680	Abnormality of cardiovascular system morphology
8195	MKKS	HP:0000807	Glandular hypospadias
8195	MKKS	HP:0004383	Hypoplastic left heart
8195	MKKS	HP:0004397	Ectopic anus
8195	MKKS	HP:0000819	Diabetes mellitus
8195	MKKS	HP:0000822	Hypertension
8195	MKKS	HP:0003241	External genital hypoplasia
8195	MKKS	HP:0003202	Skeletal muscle atrophy
8195	MKKS	HP:0100259	Postaxial polydactyly
8195	MKKS	HP:0000969	Edema
8195	MKKS	HP:0012227	Urethral stricture
8195	MKKS	HP:0001586	Vesicovaginal fistula
8195	MKKS	HP:0000218	High palate
8195	MKKS	HP:0030010	Hydrometrocolpos
8195	MKKS	HP:0001508	Failure to thrive
8195	MKKS	HP:0001513	Obesity
8195	MKKS	HP:0000365	Hearing impairment
8195	MKKS	HP:0000368	Low-set, posteriorly rotated ears
8195	MKKS	HP:0001643	Patent ductus arteriosus
8195	MKKS	HP:0001629	Ventricular septal defect
8195	MKKS	HP:0001636	Tetralogy of Fallot
8195	MKKS	HP:0001631	Atrial septal defect
8195	MKKS	HP:0000494	Downslanted palpebral fissures
8195	MKKS	HP:0000470	Short neck
8195	MKKS	HP:0000426	Prominent nasal bridge
8195	MKKS	HP:0000510	Rod-cone dystrophy
8195	MKKS	HP:0000512	Abnormal electroretinogram
8195	MKKS	HP:0001830	Postaxial foot polydactyly
8195	MKKS	HP:0000580	Pigmentary retinopathy
8200	GDF5	HP:0001172	Abnormal thumb morphology
8200	GDF5	HP:0001156	Brachydactyly
8200	GDF5	HP:0001162	Postaxial hand polydactyly
8200	GDF5	HP:0009882	Short distal phalanx of finger
8200	GDF5	HP:0001249	Intellectual disability
8200	GDF5	HP:0001231	Abnormal fingernail morphology
8200	GDF5	HP:0001230	Broad metacarpals
8200	GDF5	HP:0006110	Shortening of all middle phalanges of the fingers
8200	GDF5	HP:0006101	Finger syndactyly
8200	GDF5	HP:0006011	Cuboidal metacarpal
8200	GDF5	HP:0006014	Abnormally shaped carpal bones
8200	GDF5	HP:0001204	Distal symphalangism of hands
8200	GDF5	HP:0003826	Stillbirth
8200	GDF5	HP:0006092	Malaligned carpal bone
8200	GDF5	HP:0001376	Limitation of joint mobility
8200	GDF5	HP:0001371	Flexion contracture
8200	GDF5	HP:0001385	Hip dysplasia
8200	GDF5	HP:0001387	Joint stiffness
8200	GDF5	HP:0008890	Severe short-limb dwarfism
8200	GDF5	HP:0006228	Valgus hand deformity
8200	GDF5	HP:0008873	Disproportionate short-limb short stature
8200	GDF5	HP:0006206	Hypersegmentation of proximal phalanx of second finger
8200	GDF5	HP:0008843	Hip osteoarthritis
8200	GDF5	HP:0006143	Abnormal finger flexion crease
8200	GDF5	HP:0006144	Shortening of all proximal phalanges of the fingers
8200	GDF5	HP:0000007	Autosomal recessive inheritance
8200	GDF5	HP:0000006	Autosomal dominant inheritance
8200	GDF5	HP:0002652	Skeletal dysplasia
8200	GDF5	HP:0002650	Scoliosis
8200	GDF5	HP:0002644	Abnormal pelvic girdle bone morphology
8200	GDF5	HP:0008905	Rhizomelia
8200	GDF5	HP:0007598	Bilateral single transverse palmar creases
8200	GDF5	HP:0002750	Delayed skeletal maturation
8200	GDF5	HP:0004691	2-3 toe syndactyly
8200	GDF5	HP:0100543	Cognitive impairment
8200	GDF5	HP:0009461	Short 3rd finger
8200	GDF5	HP:0009463	Ulnar deviation of the 3rd finger
8200	GDF5	HP:0009465	Ulnar deviation of finger
8200	GDF5	HP:0009464	Ulnar deviation of the 2nd finger
8200	GDF5	HP:0009467	Radial deviation of the 2nd finger
8200	GDF5	HP:0009456	Triangular shaped proximal phalanx of the 3rd finger
8200	GDF5	HP:0008119	Deformed tarsal bones
8200	GDF5	HP:0009436	Triangular shaped middle phalanx of the 3rd finger
8200	GDF5	HP:0009439	Short middle phalanx of the 3rd finger
8200	GDF5	HP:0009417	Pseudoepiphyses of the 3rd finger
8200	GDF5	HP:0005930	Abnormal epiphysis morphology
8200	GDF5	HP:0005916	Abnormal metacarpal morphology
8200	GDF5	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
8200	GDF5	HP:0009495	Pseudoepiphysis of the 2nd finger
8200	GDF5	HP:0011929	Hypersegmentation of proximal phalanx of third finger
8200	GDF5	HP:0009606	Complete duplication of distal phalanx of the thumb
8200	GDF5	HP:0011927	Short digit
8200	GDF5	HP:0009601	Aplasia/Hypoplasia of the thumb
8200	GDF5	HP:0002167	Abnormality of speech or vocalization
8200	GDF5	HP:0100490	Camptodactyly of finger
8200	GDF5	HP:0009587	Triangular shaped proximal phalanx of the 2nd finger
8200	GDF5	HP:0009575	Triangular shaped middle phalanx of the 2nd finger
8200	GDF5	HP:0009577	Short middle phalanx of the 2nd finger
8200	GDF5	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
8200	GDF5	HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger
8200	GDF5	HP:0009536	Short 2nd finger
8200	GDF5	HP:0010508	Metatarsus valgus
8200	GDF5	HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger
8200	GDF5	HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger
8200	GDF5	HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger
8200	GDF5	HP:0010579	Cone-shaped epiphysis
8200	GDF5	HP:0003577	Congenital onset
8200	GDF5	HP:0009700	Finger symphalangism
8200	GDF5	HP:0009702	Carpal synostosis
8200	GDF5	HP:0008368	Tarsal synostosis
8200	GDF5	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb
8200	GDF5	HP:0010624	Aplastic/hypoplastic toenail
8200	GDF5	HP:0032078	Angel-shaped phalanx
8200	GDF5	HP:0009803	Short phalanx of finger
8200	GDF5	HP:0010760	Absent toe
8200	GDF5	HP:0009773	Symphalangism affecting the phalanges of the hand
8200	GDF5	HP:0009778	Short thumb
8200	GDF5	HP:0010743	Short metatarsal
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger
8200	GDF5	HP:0004279	Short palm
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger
8200	GDF5	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
8200	GDF5	HP:0010049	Short metacarpal
8200	GDF5	HP:0010055	Broad hallux
8200	GDF5	HP:0010038	Short 2nd metacarpal
8200	GDF5	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal
8200	GDF5	HP:0010034	Short 1st metacarpal
8200	GDF5	HP:0000684	Delayed eruption of teeth
8200	GDF5	HP:0011304	Broad thumb
8200	GDF5	HP:0000668	Hypodontia
8200	GDF5	HP:0004322	Short stature
8200	GDF5	HP:0003070	Elbow ankylosis
8200	GDF5	HP:0003086	Acromesomelia
8200	GDF5	HP:0003067	Madelung deformity
8200	GDF5	HP:0003038	Fibular hypoplasia
8200	GDF5	HP:0005692	Joint hyperflexibility
8200	GDF5	HP:0003028	Abnormality of the ankle
8200	GDF5	HP:0003042	Elbow dislocation
8200	GDF5	HP:0003041	Humeroradial synostosis
8200	GDF5	HP:0003022	Hypoplasia of the ulna
8200	GDF5	HP:0003019	Abnormality of the wrist
8200	GDF5	HP:0009182	Triangular shaped middle phalanx of the 5th finger
8200	GDF5	HP:0009177	Proximal/middle symphalangism of 5th finger
8200	GDF5	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
8200	GDF5	HP:0010109	Short hallux
8200	GDF5	HP:0005736	Short tibia
8200	GDF5	HP:0005792	Short humerus
8200	GDF5	HP:0100387	Aplasia of the middle phalanges of the toes
8200	GDF5	HP:0003097	Short femur
8200	GDF5	HP:0040019	Finger clinodactyly
8200	GDF5	HP:0009295	Short middle phalanx of the 4th finger
8200	GDF5	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand
8200	GDF5	HP:0040071	Abnormal morphology of ulna
8200	GDF5	HP:0005880	Metacarpophalangeal synostosis
8200	GDF5	HP:0003272	Abnormal hip bone morphology
8200	GDF5	HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger
8200	GDF5	HP:0100264	Proximal symphalangism
8200	GDF5	HP:0009331	Triangular epiphysis of the middle phalanx of the 3rd finger
8200	GDF5	HP:0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger
8200	GDF5	HP:0000954	Single transverse palmar crease
8200	GDF5	HP:0100242	Sarcoma
8200	GDF5	HP:0008096	Medially deviated second toe
8200	GDF5	HP:0008081	Pes valgus
8200	GDF5	HP:0005819	Short middle phalanx of finger
8200	GDF5	HP:0009373	Type C brachydactyly
8200	GDF5	HP:0009372	Type A2 brachydactyly
8200	GDF5	HP:0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger
8200	GDF5	HP:0001597	Abnormality of the nail
8200	GDF5	HP:0005096	Distal femoral bowing
8200	GDF5	HP:0002818	Abnormal morphology of the radius
8200	GDF5	HP:0002827	Hip dislocation
8200	GDF5	HP:0005048	Synostosis of carpal bones
8200	GDF5	HP:0001522	Death in infancy
8200	GDF5	HP:0002948	Vertebral fusion
8200	GDF5	HP:0006492	Aplasia/Hypoplasia of the fibula
8200	GDF5	HP:0006498	Aplasia/Hypoplasia of the patella
8200	GDF5	HP:0006487	Bowing of the long bones
8200	GDF5	HP:0002999	Patellar dislocation
8200	GDF5	HP:0002983	Micromelia
8200	GDF5	HP:0002992	Abnormality of tibia morphology
8200	GDF5	HP:0002990	Fibular aplasia
8200	GDF5	HP:0002986	Radial bowing
8200	GDF5	HP:0002984	Hypoplasia of the radius
8200	GDF5	HP:0000324	Facial asymmetry
8200	GDF5	HP:0000407	Sensorineural hearing impairment
8200	GDF5	HP:0000405	Conductive hearing impairment
8200	GDF5	HP:0000486	Strabismus
8200	GDF5	HP:0001792	Small nail
8200	GDF5	HP:0001773	Short foot
8200	GDF5	HP:0001772	Talipes equinovalgus
8200	GDF5	HP:0001763	Pes planus
8200	GDF5	HP:0000446	Narrow nasal bridge
8200	GDF5	HP:0000445	Wide nose
8200	GDF5	HP:0001776	Bilateral talipes equinovarus
8200	GDF5	HP:0001762	Talipes equinovarus
8200	GDF5	HP:0001822	Hallux valgus
8200	GDF5	HP:0001831	Short toe
8200	GDF5	HP:0004097	Deviation of finger
8204	NRIP1	HP:0003829	Typified by incomplete penetrance
8204	NRIP1	HP:0000089	Renal hypoplasia
8204	NRIP1	HP:0000086	Ectopic kidney
8204	NRIP1	HP:0000076	Vesicoureteral reflux
8204	NRIP1	HP:0000003	Multicystic kidney dysplasia
8204	NRIP1	HP:0000006	Autosomal dominant inheritance
8204	NRIP1	HP:0000126	Hydronephrosis
8204	NRIP1	HP:0003577	Congenital onset
8204	NRIP1	HP:0003584	Late onset
8204	NRIP1	HP:0003621	Juvenile onset
8204	NRIP1	HP:0030674	Antenatal onset
8204	NRIP1	HP:0011463	Childhood onset
8214	DGCR6	HP:0001155	Abnormality of the hand
8214	DGCR6	HP:0001252	Hypotonia
8214	DGCR6	HP:0001249	Intellectual disability
8214	DGCR6	HP:0000023	Inguinal hernia
8214	DGCR6	HP:0000028	Cryptorchidism
8214	DGCR6	HP:0001328	Specific learning disability
8214	DGCR6	HP:0000006	Autosomal dominant inheritance
8214	DGCR6	HP:0002627	Right aortic arch with mirror image branching
8214	DGCR6	HP:0000194	Open mouth
8214	DGCR6	HP:0000176	Submucous cleft hard palate
8214	DGCR6	HP:0000175	Cleft palate
8214	DGCR6	HP:0002719	Recurrent infections
8214	DGCR6	HP:0011999	Paranoia
8214	DGCR6	HP:0004935	Pulmonary artery atresia
8214	DGCR6	HP:0000627	Posterior embryotoxon
8214	DGCR6	HP:0004322	Short stature
8214	DGCR6	HP:0000718	Aggressive behavior
8214	DGCR6	HP:0000712	Emotional lability
8214	DGCR6	HP:0012841	Retinal vascular tortuosity
8214	DGCR6	HP:0000829	Hypoparathyroidism
8214	DGCR6	HP:0011590	Double aortic arch
8214	DGCR6	HP:0011611	Interrupted aortic arch
8214	DGCR6	HP:0045025	Narrow palpebral fissure
8214	DGCR6	HP:0000278	Retrognathia
8214	DGCR6	HP:0000252	Microcephaly
8214	DGCR6	HP:0000220	Velopharyngeal insufficiency
8214	DGCR6	HP:0001537	Umbilical hernia
8214	DGCR6	HP:0000201	Pierre-Robin sequence
8214	DGCR6	HP:0006549	Unilateral primary pulmonary dysgenesis
8214	DGCR6	HP:0002901	Hypocalcemia
8214	DGCR6	HP:0001629	Ventricular septal defect
8214	DGCR6	HP:0001636	Tetralogy of Fallot
8214	DGCR6	HP:0000414	Bulbous nose
8214	DGCR6	HP:0000430	Underdeveloped nasal alae
8214	DGCR6	HP:0005435	Impaired T cell function
8214	DGCR6	HP:0000598	Abnormality of the ear
8214	DGCR6	HP:0000581	Blepharophimosis
8214	DGCR6	HP:0001883	Talipes
8216	LZTR1	HP:0001156	Brachydactyly
8216	LZTR1	HP:0009891	Underdeveloped supraorbital ridges
8216	LZTR1	HP:0010880	Increased nuchal translucency
8216	LZTR1	HP:0003764	Nevus
8216	LZTR1	HP:0001252	Hypotonia
8216	LZTR1	HP:0001249	Intellectual disability
8216	LZTR1	HP:0001260	Dysarthria
8216	LZTR1	HP:0001263	Global developmental delay
8216	LZTR1	HP:0003829	Typified by incomplete penetrance
8216	LZTR1	HP:0000078	Abnormality of the genital system
8216	LZTR1	HP:0000044	Hypogonadotropic hypogonadism
8216	LZTR1	HP:0000028	Cryptorchidism
8216	LZTR1	HP:0008872	Feeding difficulties in infancy
8216	LZTR1	HP:0007517	Palmoplantar cutis laxa
8216	LZTR1	HP:0007477	Abnormal dermatoglyphics
8216	LZTR1	HP:0001324	Muscle weakness
8216	LZTR1	HP:0000007	Autosomal recessive inheritance
8216	LZTR1	HP:0000006	Autosomal dominant inheritance
8216	LZTR1	HP:0002650	Scoliosis
8216	LZTR1	HP:0000179	Thick lower lip vermilion
8216	LZTR1	HP:0002750	Delayed skeletal maturation
8216	LZTR1	HP:0011800	Midface retrusion
8216	LZTR1	HP:0002167	Abnormality of speech or vocalization
8216	LZTR1	HP:0002162	Low posterior hairline
8216	LZTR1	HP:0011869	Abnormal platelet function
8216	LZTR1	HP:0002240	Hepatomegaly
8216	LZTR1	HP:0003581	Adult onset
8216	LZTR1	HP:0002202	Pleural effusion
8216	LZTR1	HP:0002212	Curly hair
8216	LZTR1	HP:0002208	Coarse hair
8216	LZTR1	HP:0010726	Prominent corneal nerve fibers
8216	LZTR1	HP:0100763	Abnormality of the lymphatic system
8216	LZTR1	HP:0001004	Lymphedema
8216	LZTR1	HP:0003645	Prolonged partial thromboplastin time
8216	LZTR1	HP:0100625	Enlarged thorax
8216	LZTR1	HP:0032152	Keratosis pilaris
8216	LZTR1	HP:0004209	Clinodactyly of the 5th finger
8216	LZTR1	HP:0000639	Nystagmus
8216	LZTR1	HP:0001929	Reduced factor XI activity
8216	LZTR1	HP:0001928	Abnormality of coagulation
8216	LZTR1	HP:0001909	Leukemia
8216	LZTR1	HP:0011381	Aplasia of the semicircular canal
8216	LZTR1	HP:0011362	Abnormal hair quantity
8216	LZTR1	HP:0004322	Short stature
8216	LZTR1	HP:0030680	Abnormality of cardiovascular system morphology
8216	LZTR1	HP:0005692	Joint hyperflexibility
8216	LZTR1	HP:0100008	Schwannoma
8216	LZTR1	HP:0000767	Pectus excavatum
8216	LZTR1	HP:0000766	Abnormal sternum morphology
8216	LZTR1	HP:0000768	Pectus carinatum
8216	LZTR1	HP:0004415	Pulmonary artery stenosis
8216	LZTR1	HP:0000914	Shield chest
8216	LZTR1	HP:0004482	Relative macrocephaly
8216	LZTR1	HP:0045075	Sparse eyebrow
8216	LZTR1	HP:0000995	Melanocytic nevus
8216	LZTR1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
8216	LZTR1	HP:0010302	Spinal cord tumor
8216	LZTR1	HP:0011636	Abnormal coronary artery origin
8216	LZTR1	HP:0000974	Hyperextensible skin
8216	LZTR1	HP:0000957	Cafe-au-lait spot
8216	LZTR1	HP:0000953	Hyperpigmentation of the skin
8216	LZTR1	HP:0000962	Hyperkeratosis
8216	LZTR1	HP:0011675	Arrhythmia
8216	LZTR1	HP:0000286	Epicanthus
8216	LZTR1	HP:0002804	Arthrogryposis multiplex congenita
8216	LZTR1	HP:0000218	High palate
8216	LZTR1	HP:0001561	Polyhydramnios
8216	LZTR1	HP:0000391	Thickened helices
8216	LZTR1	HP:0000358	Posteriorly rotated ears
8216	LZTR1	HP:0000369	Low-set ears
8216	LZTR1	HP:0000368	Low-set, posteriorly rotated ears
8216	LZTR1	HP:0000341	Narrow forehead
8216	LZTR1	HP:0001680	Coarctation of aorta
8216	LZTR1	HP:0000348	High forehead
8216	LZTR1	HP:0000347	Micrognathia
8216	LZTR1	HP:0000316	Hypertelorism
8216	LZTR1	HP:0001643	Patent ductus arteriosus
8216	LZTR1	HP:0001642	Pulmonic stenosis
8216	LZTR1	HP:0002974	Radioulnar synostosis
8216	LZTR1	HP:0001653	Mitral regurgitation
8216	LZTR1	HP:0000325	Triangular face
8216	LZTR1	HP:0001629	Ventricular septal defect
8216	LZTR1	HP:0001641	Abnormal pulmonary valve morphology
8216	LZTR1	HP:0001639	Hypertrophic cardiomyopathy
8216	LZTR1	HP:0001638	Cardiomyopathy
8216	LZTR1	HP:0002967	Cubitus valgus
8216	LZTR1	HP:0001631	Atrial septal defect
8216	LZTR1	HP:0001634	Mitral valve prolapse
8216	LZTR1	HP:0006610	Wide intermamillary distance
8216	LZTR1	HP:0006695	Atrioventricular canal defect
8216	LZTR1	HP:0000407	Sensorineural hearing impairment
8216	LZTR1	HP:0001718	Mitral stenosis
8216	LZTR1	HP:0001712	Left ventricular hypertrophy
8216	LZTR1	HP:0000486	Strabismus
8216	LZTR1	HP:0000476	Cystic hygroma
8216	LZTR1	HP:0000494	Downslanted palpebral fissures
8216	LZTR1	HP:0000474	Thickened nuchal skin fold
8216	LZTR1	HP:0000470	Short neck
8216	LZTR1	HP:0000465	Webbed neck
8216	LZTR1	HP:0001743	Abnormality of the spleen
8216	LZTR1	HP:0000520	Proptosis
8216	LZTR1	HP:0000508	Ptosis
8216	LZTR1	HP:0001892	Abnormal bleeding
8218	CLTCL1	HP:0012044	Seesaw nystagmus
8218	CLTCL1	HP:0008780	Congenital bilateral hip dislocation
8218	CLTCL1	HP:0001328	Specific learning disability
8218	CLTCL1	HP:0008947	Infantile muscular hypotonia
8218	CLTCL1	HP:0002757	Recurrent fractures
8218	CLTCL1	HP:0002754	Osteomyelitis
8218	CLTCL1	HP:0002069	Bilateral tonic-clonic seizure
8218	CLTCL1	HP:0002188	Delayed CNS myelination
8218	CLTCL1	HP:0007021	Pain insensitivity
8218	CLTCL1	HP:0010841	Multifocal epileptiform discharges
8218	CLTCL1	HP:0200020	Corneal erosion
8218	CLTCL1	HP:0010830	Impaired tactile sensation
8218	CLTCL1	HP:0009826	Limb undergrowth
8218	CLTCL1	HP:0011344	Severe global developmental delay
8218	CLTCL1	HP:0001999	Abnormal facial shape
8218	CLTCL1	HP:0012745	Short palpebral fissure
8218	CLTCL1	HP:0000742	Self-mutilation
8218	CLTCL1	HP:0011470	Nasogastric tube feeding in infancy
8218	CLTCL1	HP:0008000	Decreased corneal reflex
8218	CLTCL1	HP:0001562	Oligohydramnios
8218	CLTCL1	HP:0001518	Small for gestational age
8218	CLTCL1	HP:0000347	Micrognathia
8218	CLTCL1	HP:0002982	Tibial bowing
8218	CLTCL1	HP:0000324	Facial asymmetry
8218	CLTCL1	HP:0000486	Strabismus
8218	CLTCL1	HP:0000491	Keratitis
8218	CLTCL1	HP:0001772	Talipes equinovalgus
8218	CLTCL1	HP:0000448	Prominent nose
8218	CLTCL1	HP:0001838	Rocker bottom foot
8220	ESS2	HP:0001155	Abnormality of the hand
8220	ESS2	HP:0001252	Hypotonia
8220	ESS2	HP:0001249	Intellectual disability
8220	ESS2	HP:0000023	Inguinal hernia
8220	ESS2	HP:0000028	Cryptorchidism
8220	ESS2	HP:0001328	Specific learning disability
8220	ESS2	HP:0000006	Autosomal dominant inheritance
8220	ESS2	HP:0002627	Right aortic arch with mirror image branching
8220	ESS2	HP:0000194	Open mouth
8220	ESS2	HP:0000176	Submucous cleft hard palate
8220	ESS2	HP:0000175	Cleft palate
8220	ESS2	HP:0002719	Recurrent infections
8220	ESS2	HP:0011999	Paranoia
8220	ESS2	HP:0004935	Pulmonary artery atresia
8220	ESS2	HP:0000627	Posterior embryotoxon
8220	ESS2	HP:0004322	Short stature
8220	ESS2	HP:0000718	Aggressive behavior
8220	ESS2	HP:0000712	Emotional lability
8220	ESS2	HP:0012841	Retinal vascular tortuosity
8220	ESS2	HP:0000829	Hypoparathyroidism
8220	ESS2	HP:0011590	Double aortic arch
8220	ESS2	HP:0011611	Interrupted aortic arch
8220	ESS2	HP:0045025	Narrow palpebral fissure
8220	ESS2	HP:0000278	Retrognathia
8220	ESS2	HP:0000252	Microcephaly
8220	ESS2	HP:0000220	Velopharyngeal insufficiency
8220	ESS2	HP:0001537	Umbilical hernia
8220	ESS2	HP:0000201	Pierre-Robin sequence
8220	ESS2	HP:0006549	Unilateral primary pulmonary dysgenesis
8220	ESS2	HP:0002901	Hypocalcemia
8220	ESS2	HP:0001629	Ventricular septal defect
8220	ESS2	HP:0001636	Tetralogy of Fallot
8220	ESS2	HP:0000414	Bulbous nose
8220	ESS2	HP:0000430	Underdeveloped nasal alae
8220	ESS2	HP:0005435	Impaired T cell function
8220	ESS2	HP:0000598	Abnormality of the ear
8220	ESS2	HP:0000581	Blepharophimosis
8220	ESS2	HP:0001883	Talipes
8239	USP9X	HP:0001182	Tapered finger
8239	USP9X	HP:0001290	Generalized hypotonia
8239	USP9X	HP:0001250	Seizure
8239	USP9X	HP:0001252	Hypotonia
8239	USP9X	HP:0001249	Intellectual disability
8239	USP9X	HP:0001263	Global developmental delay
8239	USP9X	HP:0002557	Hypoplastic nipples
8239	USP9X	HP:0001238	Slender finger
8239	USP9X	HP:0100890	Cyst of the ductus choledochus
8239	USP9X	HP:0007360	Aplasia/Hypoplasia of the cerebellum
8239	USP9X	HP:0002536	Abnormal cortical gyration
8239	USP9X	HP:0000086	Ectopic kidney
8239	USP9X	HP:0001374	Congenital hip dislocation
8239	USP9X	HP:0001376	Limitation of joint mobility
8239	USP9X	HP:0001385	Hip dysplasia
8239	USP9X	HP:0001388	Joint laxity
8239	USP9X	HP:0000047	Hypospadias
8239	USP9X	HP:0007483	Depigmentation/hyperpigmentation of skin
8239	USP9X	HP:0002664	Neoplasm
8239	USP9X	HP:0001305	Dandy-Walker malformation
8239	USP9X	HP:0001320	Cerebellar vermis hypoplasia
8239	USP9X	HP:0002650	Scoliosis
8239	USP9X	HP:0001321	Cerebellar hypoplasia
8239	USP9X	HP:0000193	Bifid uvula
8239	USP9X	HP:0000164	Abnormality of the dentition
8239	USP9X	HP:0000175	Cleft palate
8239	USP9X	HP:0410026	Abnormal periodontium morphology
8239	USP9X	HP:0008947	Infantile muscular hypotonia
8239	USP9X	HP:0002779	Tracheomalacia
8239	USP9X	HP:0000119	Abnormality of the genitourinary system
8239	USP9X	HP:0000126	Hydronephrosis
8239	USP9X	HP:0001423	X-linked dominant inheritance
8239	USP9X	HP:0000110	Renal dysplasia
8239	USP9X	HP:0001419	X-linked recessive inheritance
8239	USP9X	HP:0002023	Anal atresia
8239	USP9X	HP:0002020	Gastroesophageal reflux
8239	USP9X	HP:0002098	Respiratory distress
8239	USP9X	HP:0030928	1-minute APGAR score of 1
8239	USP9X	HP:0030925	5-minute APGAR score of 5
8239	USP9X	HP:0100559	Lower limb asymmetry
8239	USP9X	HP:0002079	Hypoplasia of the corpus callosum
8239	USP9X	HP:0010499	Patellar subluxation
8239	USP9X	HP:0002119	Ventriculomegaly
8239	USP9X	HP:0002198	Dilated fourth ventricle
8239	USP9X	HP:0002212	Curly hair
8239	USP9X	HP:0002205	Recurrent respiratory infections
8239	USP9X	HP:0200117	Recurrent upper and lower respiratory tract infections
8239	USP9X	HP:0011968	Feeding difficulties
8239	USP9X	HP:0002365	Hypoplasia of the brainstem
8239	USP9X	HP:0002342	Intellectual disability, moderate
8239	USP9X	HP:0002355	Difficulty walking
8239	USP9X	HP:0200055	Small hand
8239	USP9X	HP:0004298	Abnormality of the abdominal wall
8239	USP9X	HP:0000601	Hypotelorism
8239	USP9X	HP:0010055	Broad hallux
8239	USP9X	HP:0000692	Tooth malposition
8239	USP9X	HP:0011304	Broad thumb
8239	USP9X	HP:0004322	Short stature
8239	USP9X	HP:0005692	Joint hyperflexibility
8239	USP9X	HP:0012745	Short palpebral fissure
8239	USP9X	HP:0000750	Delayed speech and language development
8239	USP9X	HP:0000718	Aggressive behavior
8239	USP9X	HP:0000729	Autistic behavior
8239	USP9X	HP:0005722	Hyperextensible thumb
8239	USP9X	HP:0004482	Relative macrocephaly
8239	USP9X	HP:0012813	Unilateral breast hypoplasia
8239	USP9X	HP:0012810	Wide nasal base
8239	USP9X	HP:0000823	Delayed puberty
8239	USP9X	HP:0000998	Hypertrichosis
8239	USP9X	HP:0100259	Postaxial polydactyly
8239	USP9X	HP:0000960	Sacral dimple
8239	USP9X	HP:0000938	Osteopenia
8239	USP9X	HP:0002827	Hip dislocation
8239	USP9X	HP:0000248	Brachycephaly
8239	USP9X	HP:0000219	Thin upper lip vermilion
8239	USP9X	HP:0000218	High palate
8239	USP9X	HP:0000212	Gingival overgrowth
8239	USP9X	HP:0001511	Intrauterine growth retardation
8239	USP9X	HP:0031508	Abnormal circulating thyroid hormone concentration
8239	USP9X	HP:0002944	Thoracolumbar scoliosis
8239	USP9X	HP:0002926	Abnormality of thyroid physiology
8239	USP9X	HP:0000365	Hearing impairment
8239	USP9X	HP:0000358	Posteriorly rotated ears
8239	USP9X	HP:0000369	Low-set ears
8239	USP9X	HP:0000368	Low-set, posteriorly rotated ears
8239	USP9X	HP:0000341	Narrow forehead
8239	USP9X	HP:0000343	Long philtrum
8239	USP9X	HP:0000319	Smooth philtrum
8239	USP9X	HP:0001643	Patent ductus arteriosus
8239	USP9X	HP:0000324	Facial asymmetry
8239	USP9X	HP:0001638	Cardiomyopathy
8239	USP9X	HP:0001631	Atrial septal defect
8239	USP9X	HP:0005272	Prominent nasolabial fold
8239	USP9X	HP:0005280	Depressed nasal bridge
8239	USP9X	HP:0000483	Astigmatism
8239	USP9X	HP:0000486	Strabismus
8239	USP9X	HP:0012471	Thick vermilion border
8239	USP9X	HP:0000478	Abnormality of the eye
8239	USP9X	HP:0000494	Downslanted palpebral fissures
8239	USP9X	HP:0012444	Brain atrophy
8239	USP9X	HP:0012450	Chronic constipation
8239	USP9X	HP:0000454	Flared nostrils
8239	USP9X	HP:0001773	Short foot
8239	USP9X	HP:0001763	Pes planus
8239	USP9X	HP:0000453	Choanal atresia
8239	USP9X	HP:0000448	Prominent nose
8239	USP9X	HP:0000414	Bulbous nose
8239	USP9X	HP:0000431	Wide nasal bridge
8239	USP9X	HP:0001761	Pes cavus
8239	USP9X	HP:0000518	Cataract
8239	USP9X	HP:0001845	Overlapping toe
8239	USP9X	HP:0001822	Hallux valgus
8239	USP9X	HP:0000506	Telecanthus
8239	USP9X	HP:0004095	Curved fingers
8239	USP9X	HP:0000582	Upslanted palpebral fissure
8239	USP9X	HP:0011220	Prominent forehead
8239	USP9X	HP:0000540	Hypermetropia
8239	USP9X	HP:0000545	Myopia
8241	RBM10	HP:0001161	Hand polydactyly
8241	RBM10	HP:0009891	Underdeveloped supraorbital ridges
8241	RBM10	HP:0008551	Microtia
8241	RBM10	HP:0001290	Generalized hypotonia
8241	RBM10	HP:0001273	Abnormal corpus callosum morphology
8241	RBM10	HP:0001250	Seizure
8241	RBM10	HP:0001252	Hypotonia
8241	RBM10	HP:0001249	Intellectual disability
8241	RBM10	HP:0001263	Global developmental delay
8241	RBM10	HP:0006101	Finger syndactyly
8241	RBM10	HP:0000085	Horseshoe kidney
8241	RBM10	HP:0000028	Cryptorchidism
8241	RBM10	HP:0006191	Deep palmar crease
8241	RBM10	HP:0001320	Cerebellar vermis hypoplasia
8241	RBM10	HP:0002650	Scoliosis
8241	RBM10	HP:0001321	Cerebellar hypoplasia
8241	RBM10	HP:0000199	Tongue nodules
8241	RBM10	HP:0000162	Glossoptosis
8241	RBM10	HP:0000175	Cleft palate
8241	RBM10	HP:0000126	Hydronephrosis
8241	RBM10	HP:0001419	X-linked recessive inheritance
8241	RBM10	HP:0001417	X-linked inheritance
8241	RBM10	HP:0002089	Pulmonary hypoplasia
8241	RBM10	HP:0002136	Broad-based gait
8241	RBM10	HP:0002104	Apnea
8241	RBM10	HP:0002246	Abnormal duodenum morphology
8241	RBM10	HP:0009738	Abnormal antihelix morphology
8241	RBM10	HP:0010720	Abnormal hair pattern
8241	RBM10	HP:0009085	Alveolar ridge overgrowth
8241	RBM10	HP:0000648	Optic atrophy
8241	RBM10	HP:0001978	Extramedullary hematopoiesis
8241	RBM10	HP:0030680	Abnormality of cardiovascular system morphology
8241	RBM10	HP:0012745	Short palpebral fissure
8241	RBM10	HP:0000767	Pectus excavatum
8241	RBM10	HP:0012725	Cutaneous syndactyly
8241	RBM10	HP:0011445	Athetoid cerebral palsy
8241	RBM10	HP:0004492	Widely patent fontanelles and sutures
8241	RBM10	HP:0000879	Short sternum
8241	RBM10	HP:0100259	Postaxial polydactyly
8241	RBM10	HP:0000954	Single transverse palmar crease
8241	RBM10	HP:0000961	Cyanosis
8241	RBM10	HP:0006434	Hypoplasia of proximal radius
8241	RBM10	HP:0030084	Clinodactyly
8241	RBM10	HP:0000239	Large fontanelles
8241	RBM10	HP:0000218	High palate
8241	RBM10	HP:0000201	Pierre-Robin sequence
8241	RBM10	HP:0001508	Failure to thrive
8241	RBM10	HP:0001511	Intrauterine growth retardation
8241	RBM10	HP:0000385	Small earlobe
8241	RBM10	HP:0000395	Prominent antihelix
8241	RBM10	HP:0000365	Hearing impairment
8241	RBM10	HP:0000358	Posteriorly rotated ears
8241	RBM10	HP:0000369	Low-set ears
8241	RBM10	HP:0000368	Low-set, posteriorly rotated ears
8241	RBM10	HP:0000340	Sloping forehead
8241	RBM10	HP:0000347	Micrognathia
8241	RBM10	HP:0000316	Hypertelorism
8241	RBM10	HP:0002984	Hypoplasia of the radius
8241	RBM10	HP:0001636	Tetralogy of Fallot
8241	RBM10	HP:0001631	Atrial septal defect
8241	RBM10	HP:0005301	Persistent left superior vena cava
8241	RBM10	HP:0000463	Anteverted nares
8241	RBM10	HP:0001762	Talipes equinovarus
8241	RBM10	HP:0000431	Wide nasal bridge
8241	RBM10	HP:0001838	Rocker bottom foot
8241	RBM10	HP:0000574	Thick eyebrow
8241	RBM10	HP:0000545	Myopia
8242	KDM5C	HP:0001176	Large hands
8242	KDM5C	HP:0001182	Tapered finger
8242	KDM5C	HP:0001156	Brachydactyly
8242	KDM5C	HP:0010864	Intellectual disability, severe
8242	KDM5C	HP:0009882	Short distal phalanx of finger
8242	KDM5C	HP:0001270	Motor delay
8242	KDM5C	HP:0001250	Seizure
8242	KDM5C	HP:0001249	Intellectual disability
8242	KDM5C	HP:0001263	Global developmental delay
8242	KDM5C	HP:0001257	Spasticity
8242	KDM5C	HP:0008734	Decreased testicular size
8242	KDM5C	HP:0001371	Flexion contracture
8242	KDM5C	HP:0000054	Micropenis
8242	KDM5C	HP:0001347	Hyperreflexia
8242	KDM5C	HP:0000028	Cryptorchidism
8242	KDM5C	HP:0007565	Multiple cafe-au-lait spots
8242	KDM5C	HP:0008944	Distal lower limb amyotrophy
8242	KDM5C	HP:0002788	Recurrent upper respiratory tract infections
8242	KDM5C	HP:0001419	X-linked recessive inheritance
8242	KDM5C	HP:0008124	Talipes calcaneovarus
8242	KDM5C	HP:0003487	Babinski sign
8242	KDM5C	HP:0100490	Camptodactyly of finger
8242	KDM5C	HP:0002232	Patchy alopecia
8242	KDM5C	HP:0002205	Recurrent respiratory infections
8242	KDM5C	HP:0007020	Progressive spastic paraplegia
8242	KDM5C	HP:0007021	Pain insensitivity
8242	KDM5C	HP:0002395	Lower limb hyperreflexia
8242	KDM5C	HP:0002362	Shuffling gait
8242	KDM5C	HP:0001081	Cholelithiasis
8242	KDM5C	HP:0004279	Short palm
8242	KDM5C	HP:0006895	Lower limb hypertonia
8242	KDM5C	HP:0000699	Diastema
8242	KDM5C	HP:0004325	Decreased body weight
8242	KDM5C	HP:0004322	Short stature
8242	KDM5C	HP:0000752	Hyperactivity
8242	KDM5C	HP:0000767	Pectus excavatum
8242	KDM5C	HP:0000750	Delayed speech and language development
8242	KDM5C	HP:0000744	Low frustration tolerance
8242	KDM5C	HP:0000718	Aggressive behavior
8242	KDM5C	HP:0000717	Autism
8242	KDM5C	HP:0000711	Restlessness
8242	KDM5C	HP:0011463	Childhood onset
8242	KDM5C	HP:0000297	Facial hypotonia
8242	KDM5C	HP:0000256	Macrocephaly
8242	KDM5C	HP:0030084	Clinodactyly
8242	KDM5C	HP:0000252	Microcephaly
8242	KDM5C	HP:0000221	Furrowed tongue
8242	KDM5C	HP:0000219	Thin upper lip vermilion
8242	KDM5C	HP:0000218	High palate
8242	KDM5C	HP:0001508	Failure to thrive
8242	KDM5C	HP:0000350	Small forehead
8242	KDM5C	HP:0032792	Tonic seizure
8242	KDM5C	HP:0000347	Micrognathia
8242	KDM5C	HP:0000319	Smooth philtrum
8242	KDM5C	HP:0000327	Hypoplasia of the maxilla
8242	KDM5C	HP:0002967	Cubitus valgus
8242	KDM5C	HP:0000303	Mandibular prognathia
8242	KDM5C	HP:0000400	Macrotia
8242	KDM5C	HP:0000486	Strabismus
8242	KDM5C	HP:0000490	Deeply set eye
8242	KDM5C	HP:0001773	Short foot
8242	KDM5C	HP:0000411	Protruding ear
8242	KDM5C	HP:0001762	Talipes equinovarus
8242	KDM5C	HP:0000426	Prominent nasal bridge
8242	KDM5C	HP:0000582	Upslanted palpebral fissure
8242	KDM5C	HP:0000574	Thick eyebrow
8242	KDM5C	HP:0000540	Hypermetropia
8242	KDM5C	HP:0000545	Myopia
8243	SMC1A	HP:0001182	Tapered finger
8243	SMC1A	HP:0001156	Brachydactyly
8243	SMC1A	HP:0002465	Poor speech
8243	SMC1A	HP:0002451	Limb dystonia
8243	SMC1A	HP:0007328	Impaired pain sensation
8243	SMC1A	HP:0007301	Oromotor apraxia
8243	SMC1A	HP:0009932	Single naris
8243	SMC1A	HP:0009914	Cyclopia
8243	SMC1A	HP:0007281	Developmental stagnation
8243	SMC1A	HP:0010880	Increased nuchal translucency
8243	SMC1A	HP:0010864	Intellectual disability, severe
8243	SMC1A	HP:0025269	Panic attack
8243	SMC1A	HP:0001290	Generalized hypotonia
8243	SMC1A	HP:0001276	Hypertonia
8243	SMC1A	HP:0001274	Agenesis of corpus callosum
8243	SMC1A	HP:0001288	Gait disturbance
8243	SMC1A	HP:0001285	Spastic tetraparesis
8243	SMC1A	HP:0001254	Lethargy
8243	SMC1A	HP:0001256	Intellectual disability, mild
8243	SMC1A	HP:0001250	Seizure
8243	SMC1A	HP:0002580	Volvulus
8243	SMC1A	HP:0001252	Hypotonia
8243	SMC1A	HP:0001249	Intellectual disability
8243	SMC1A	HP:0001263	Global developmental delay
8243	SMC1A	HP:0001257	Spasticity
8243	SMC1A	HP:0002557	Hypoplastic nipples
8243	SMC1A	HP:0002566	Intestinal malrotation
8243	SMC1A	HP:0008736	Hypoplasia of penis
8243	SMC1A	HP:0007360	Aplasia/Hypoplasia of the cerebellum
8243	SMC1A	HP:0007359	Focal-onset seizure
8243	SMC1A	HP:0002540	Inability to walk
8243	SMC1A	HP:0002553	Highly arched eyebrow
8243	SMC1A	HP:0002521	Hypsarrhythmia
8243	SMC1A	HP:0002507	Semilobar holoprosencephaly
8243	SMC1A	HP:0002505	Loss of ambulation
8243	SMC1A	HP:0003808	Abnormal muscle tone
8243	SMC1A	HP:0000083	Renal insufficiency
8243	SMC1A	HP:0025387	Pill-rolling tremor
8243	SMC1A	HP:0000059	Hypoplastic labia majora
8243	SMC1A	HP:0000076	Vesicoureteral reflux
8243	SMC1A	HP:0001371	Flexion contracture
8243	SMC1A	HP:0001385	Hip dysplasia
8243	SMC1A	HP:0001387	Joint stiffness
8243	SMC1A	HP:0000047	Hypospadias
8243	SMC1A	HP:0000028	Cryptorchidism
8243	SMC1A	HP:0008897	Postnatal growth retardation
8243	SMC1A	HP:0008872	Feeding difficulties in infancy
8243	SMC1A	HP:0008850	Severe postnatal growth retardation
8243	SMC1A	HP:0031165	Multifocal seizures
8243	SMC1A	HP:0001332	Dystonia
8243	SMC1A	HP:0001328	Specific learning disability
8243	SMC1A	HP:0001344	Absent speech
8243	SMC1A	HP:0000003	Multicystic kidney dysplasia
8243	SMC1A	HP:0001337	Tremor
8243	SMC1A	HP:0002650	Scoliosis
8243	SMC1A	HP:0001319	Neonatal hypotonia
8243	SMC1A	HP:0012171	Stereotypical hand wringing
8243	SMC1A	HP:0000193	Bifid uvula
8243	SMC1A	HP:0012165	Oligodactyly
8243	SMC1A	HP:0000161	Median cleft lip
8243	SMC1A	HP:0000175	Cleft palate
8243	SMC1A	HP:0007687	Unilateral ptosis
8243	SMC1A	HP:0007665	Curly eyelashes
8243	SMC1A	HP:0006315	Solitary median maxillary central incisor
8243	SMC1A	HP:0008947	Infantile muscular hypotonia
8243	SMC1A	HP:0008936	Axial hypotonia
8243	SMC1A	HP:0007598	Bilateral single transverse palmar creases
8243	SMC1A	HP:0000119	Abnormality of the genitourinary system
8243	SMC1A	HP:0002793	Abnormal pattern of respiration
8243	SMC1A	HP:0000130	Abnormality of the uterus
8243	SMC1A	HP:0001423	X-linked dominant inheritance
8243	SMC1A	HP:0002750	Delayed skeletal maturation
8243	SMC1A	HP:0001419	X-linked recessive inheritance
8243	SMC1A	HP:0002714	Downturned corners of mouth
8243	SMC1A	HP:0032588	Hand apraxia
8243	SMC1A	HP:0002021	Pyloric stenosis
8243	SMC1A	HP:0002020	Gastroesophageal reflux
8243	SMC1A	HP:0002019	Constipation
8243	SMC1A	HP:0002033	Poor suck
8243	SMC1A	HP:0002015	Dysphagia
8243	SMC1A	HP:0002013	Vomiting
8243	SMC1A	HP:0040327	Abnormal morphology of the olfactory bulb
8243	SMC1A	HP:0005968	Temperature instability
8243	SMC1A	HP:0011800	Midface retrusion
8243	SMC1A	HP:0100543	Cognitive impairment
8243	SMC1A	HP:0002069	Bilateral tonic-clonic seizure
8243	SMC1A	HP:0002066	Gait ataxia
8243	SMC1A	HP:0002079	Hypoplasia of the corpus callosum
8243	SMC1A	HP:0011787	Central hypothyroidism
8243	SMC1A	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger
8243	SMC1A	HP:0002123	Generalized myoclonic seizure
8243	SMC1A	HP:0002120	Cerebral cortical atrophy
8243	SMC1A	HP:0002119	Ventriculomegaly
8243	SMC1A	HP:0009623	Proximal placement of thumb
8243	SMC1A	HP:0002186	Apraxia
8243	SMC1A	HP:0002194	Delayed gross motor development
8243	SMC1A	HP:0002167	Abnormality of speech or vocalization
8243	SMC1A	HP:0002162	Low posterior hairline
8243	SMC1A	HP:0002270	Abnormality of the autonomic nervous system
8243	SMC1A	HP:0003577	Congenital onset
8243	SMC1A	HP:0100703	Tongue thrusting
8243	SMC1A	HP:0100704	Cerebral visual impairment
8243	SMC1A	HP:0002230	Generalized hirsutism
8243	SMC1A	HP:0010711	1-2 toe syndactyly
8243	SMC1A	HP:0033349	Seizure cluster
8243	SMC1A	HP:0010654	Aplasia of the falx cerebri
8243	SMC1A	HP:0007018	Attention deficit hyperactivity disorder
8243	SMC1A	HP:0011968	Feeding difficulties
8243	SMC1A	HP:0011951	Aspiration pneumonia
8243	SMC1A	HP:0002363	Abnormal brainstem morphology
8243	SMC1A	HP:0002360	Sleep disturbance
8243	SMC1A	HP:0002376	Developmental regression
8243	SMC1A	HP:0002371	Loss of speech
8243	SMC1A	HP:0001007	Hirsutism
8243	SMC1A	HP:0002353	EEG abnormality
8243	SMC1A	HP:0009830	Peripheral neuropathy
8243	SMC1A	HP:0200055	Small hand
8243	SMC1A	HP:0010773	Partial anomalous pulmonary venous return
8243	SMC1A	HP:0002300	Mutism
8243	SMC1A	HP:0004209	Clinodactyly of the 5th finger
8243	SMC1A	HP:0031860	Abnormal heart rate variability
8243	SMC1A	HP:0000639	Nystagmus
8243	SMC1A	HP:0001956	Truncal obesity
8243	SMC1A	HP:0000601	Hypotelorism
8243	SMC1A	HP:0009062	Infantile axial hypotonia
8243	SMC1A	HP:0010055	Broad hallux
8243	SMC1A	HP:0010034	Short 1st metacarpal
8243	SMC1A	HP:0011344	Severe global developmental delay
8243	SMC1A	HP:0000684	Delayed eruption of teeth
8243	SMC1A	HP:0000678	Dental crowding
8243	SMC1A	HP:0000687	Widely spaced teeth
8243	SMC1A	HP:0000667	Phthisis bulbi
8243	SMC1A	HP:0000664	Synophrys
8243	SMC1A	HP:0004322	Short stature
8243	SMC1A	HP:0006979	Sleep-wake cycle disturbance
8243	SMC1A	HP:0004302	Functional motor deficit
8243	SMC1A	HP:0004305	Involuntary movements
8243	SMC1A	HP:0030680	Abnormality of cardiovascular system morphology
8243	SMC1A	HP:0003042	Elbow dislocation
8243	SMC1A	HP:0031936	Delayed ability to walk
8243	SMC1A	HP:0100022	Abnormality of movement
8243	SMC1A	HP:0000767	Pectus excavatum
8243	SMC1A	HP:0000737	Irritability
8243	SMC1A	HP:0000739	Anxiety
8243	SMC1A	HP:0000735	Impaired social interactions
8243	SMC1A	HP:0000750	Delayed speech and language development
8243	SMC1A	HP:0012718	Morphological abnormality of the gastrointestinal tract
8243	SMC1A	HP:0012719	Functional abnormality of the gastrointestinal tract
8243	SMC1A	HP:0000748	Inappropriate laughter
8243	SMC1A	HP:0000741	Apathy
8243	SMC1A	HP:0000716	Depression
8243	SMC1A	HP:0000717	Autism
8243	SMC1A	HP:0000713	Agitation
8243	SMC1A	HP:0000729	Autistic behavior
8243	SMC1A	HP:0000723	Restrictive behavior
8243	SMC1A	HP:0000722	Compulsive behaviors
8243	SMC1A	HP:0000708	Atypical behavior
8243	SMC1A	HP:0011471	Gastrostomy tube feeding in infancy
8243	SMC1A	HP:0011442	Abnormal central motor function
8243	SMC1A	HP:0000776	Congenital diaphragmatic hernia
8243	SMC1A	HP:0000786	Primary amenorrhea
8243	SMC1A	HP:0003196	Short nose
8243	SMC1A	HP:0000924	Abnormality of the skeletal system
8243	SMC1A	HP:0000873	Diabetes insipidus
8243	SMC1A	HP:0000871	Panhypopituitarism
8243	SMC1A	HP:0012806	Proboscis
8243	SMC1A	HP:0000818	Abnormality of the endocrine system
8243	SMC1A	HP:0000817	Reduced eye contact
8243	SMC1A	HP:0000824	Decreased response to growth hormone stimulation test
8243	SMC1A	HP:0000823	Delayed puberty
8243	SMC1A	HP:0040064	Abnormality of limbs
8243	SMC1A	HP:0040071	Abnormal morphology of ulna
8243	SMC1A	HP:0045084	Limb myoclonus
8243	SMC1A	HP:0010300	Abnormally low-pitched voice
8243	SMC1A	HP:0000965	Cutis marmorata
8243	SMC1A	HP:0045005	Neural tube defect
8243	SMC1A	HP:0012285	Abnormal hypothalamus physiology
8243	SMC1A	HP:0000278	Retrognathia
8243	SMC1A	HP:0000294	Low anterior hairline
8243	SMC1A	HP:0000256	Macrocephaly
8243	SMC1A	HP:0002827	Hip dislocation
8243	SMC1A	HP:0030084	Clinodactyly
8243	SMC1A	HP:0002808	Kyphosis
8243	SMC1A	HP:0000238	Hydrocephalus
8243	SMC1A	HP:0000252	Microcephaly
8243	SMC1A	HP:0000248	Brachycephaly
8243	SMC1A	HP:0002882	Sudden episodic apnea
8243	SMC1A	HP:0000219	Thin upper lip vermilion
8243	SMC1A	HP:0000218	High palate
8243	SMC1A	HP:0002876	Episodic tachypnea
8243	SMC1A	HP:0000233	Thin vermilion border
8243	SMC1A	HP:0001557	Prenatal movement abnormality
8243	SMC1A	HP:0002871	Central apnea
8243	SMC1A	HP:0001508	Failure to thrive
8243	SMC1A	HP:0001511	Intrauterine growth retardation
8243	SMC1A	HP:0001510	Growth delay
8243	SMC1A	HP:0007824	Total ophthalmoplegia
8243	SMC1A	HP:0012385	Camptodactyly
8243	SMC1A	HP:0000396	Overfolded helix
8243	SMC1A	HP:0006528	Chronic lung disease
8243	SMC1A	HP:0000358	Posteriorly rotated ears
8243	SMC1A	HP:0000368	Low-set, posteriorly rotated ears
8243	SMC1A	HP:0000341	Narrow forehead
8243	SMC1A	HP:0000343	Long philtrum
8243	SMC1A	HP:0002996	Limited elbow movement
8243	SMC1A	HP:0000347	Micrognathia
8243	SMC1A	HP:0002983	Micromelia
8243	SMC1A	HP:0000319	Smooth philtrum
8243	SMC1A	HP:0000311	Round face
8243	SMC1A	HP:0002974	Radioulnar synostosis
8243	SMC1A	HP:0000322	Short philtrum
8243	SMC1A	HP:0000325	Triangular face
8243	SMC1A	HP:0000324	Facial asymmetry
8243	SMC1A	HP:0001629	Ventricular septal defect
8243	SMC1A	HP:0001627	Abnormal heart morphology
8243	SMC1A	HP:0001622	Premature birth
8243	SMC1A	HP:0001639	Hypertrophic cardiomyopathy
8243	SMC1A	HP:0001631	Atrial septal defect
8243	SMC1A	HP:0000498	Blepharitis
8243	SMC1A	HP:0000407	Sensorineural hearing impairment
8243	SMC1A	HP:0000405	Conductive hearing impairment
8243	SMC1A	HP:0000400	Macrotia
8243	SMC1A	HP:0005280	Depressed nasal bridge
8243	SMC1A	HP:0030215	Inappropriate crying
8243	SMC1A	HP:0000486	Strabismus
8243	SMC1A	HP:0000482	Microcornea
8243	SMC1A	HP:0012469	Infantile spasms
8243	SMC1A	HP:0000478	Abnormality of the eye
8243	SMC1A	HP:0000494	Downslanted palpebral fissures
8243	SMC1A	HP:0000490	Deeply set eye
8243	SMC1A	HP:0000463	Anteverted nares
8243	SMC1A	HP:0000460	Narrow nose
8243	SMC1A	HP:0000457	Depressed nasal ridge
8243	SMC1A	HP:0000470	Short neck
8243	SMC1A	HP:0001770	Toe syndactyly
8243	SMC1A	HP:0001773	Short foot
8243	SMC1A	HP:0000453	Choanal atresia
8243	SMC1A	HP:0000413	Atresia of the external auditory canal
8243	SMC1A	HP:0000426	Prominent nasal bridge
8243	SMC1A	HP:0005484	Secondary microcephaly
8243	SMC1A	HP:0000518	Cataract
8243	SMC1A	HP:0000527	Long eyelashes
8243	SMC1A	HP:0000508	Ptosis
8243	SMC1A	HP:0000501	Glaucoma
8243	SMC1A	HP:0000582	Upslanted palpebral fissure
8243	SMC1A	HP:0000574	Thick eyebrow
8243	SMC1A	HP:0001883	Talipes
8243	SMC1A	HP:0000545	Myopia
8260	NAA10	HP:0001159	Syndactyly
8260	NAA10	HP:0025104	Capillary malformation
8260	NAA10	HP:0002457	Abnormal head movements
8260	NAA10	HP:0009943	Complete duplication of thumb phalanx
8260	NAA10	HP:0009931	Enlarged naris
8260	NAA10	HP:0008572	External ear malformation
8260	NAA10	HP:0003717	Minimal subcutaneous fat
8260	NAA10	HP:0001290	Generalized hypotonia
8260	NAA10	HP:0100807	Long fingers
8260	NAA10	HP:0100818	Long thorax
8260	NAA10	HP:0001276	Hypertonia
8260	NAA10	HP:0001270	Motor delay
8260	NAA10	HP:0001254	Lethargy
8260	NAA10	HP:0001250	Seizure
8260	NAA10	HP:0001252	Hypotonia
8260	NAA10	HP:0001249	Intellectual disability
8260	NAA10	HP:0001264	Spastic diplegia
8260	NAA10	HP:0001263	Global developmental delay
8260	NAA10	HP:0001262	Excessive daytime somnolence
8260	NAA10	HP:0006101	Finger syndactyly
8260	NAA10	HP:0100840	Aplasia/Hypoplasia of the eyebrow
8260	NAA10	HP:0008734	Decreased testicular size
8260	NAA10	HP:0100876	Infra-orbital crease
8260	NAA10	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
8260	NAA10	HP:0008678	Renal hypoplasia/aplasia
8260	NAA10	HP:0001212	Prominent fingertip pads
8260	NAA10	HP:0003828	Variable expressivity
8260	NAA10	HP:0000089	Renal hypoplasia
8260	NAA10	HP:0000072	Hydroureter
8260	NAA10	HP:0001374	Congenital hip dislocation
8260	NAA10	HP:0000047	Hypospadias
8260	NAA10	HP:0000023	Inguinal hernia
8260	NAA10	HP:0001347	Hyperreflexia
8260	NAA10	HP:0000034	Hydrocele testis
8260	NAA10	HP:0000028	Cryptorchidism
8260	NAA10	HP:0008897	Postnatal growth retardation
8260	NAA10	HP:0007495	Prematurely aged appearance
8260	NAA10	HP:0002650	Scoliosis
8260	NAA10	HP:0000189	Narrow palate
8260	NAA10	HP:0000164	Abnormality of the dentition
8260	NAA10	HP:0001488	Bilateral ptosis
8260	NAA10	HP:0002705	High, narrow palate
8260	NAA10	HP:0031295	Left atrial enlargement
8260	NAA10	HP:0000113	Polycystic kidney dysplasia
8260	NAA10	HP:0000126	Hydronephrosis
8260	NAA10	HP:0001423	X-linked dominant inheritance
8260	NAA10	HP:0000105	Enlarged kidney
8260	NAA10	HP:0001403	Macrovesicular hepatic steatosis
8260	NAA10	HP:0002751	Kyphoscoliosis
8260	NAA10	HP:0002750	Delayed skeletal maturation
8260	NAA10	HP:0001419	X-linked recessive inheritance
8260	NAA10	HP:0001417	X-linked inheritance
8260	NAA10	HP:0001414	Microvesicular hepatic steatosis
8260	NAA10	HP:0002719	Recurrent infections
8260	NAA10	HP:0002023	Anal atresia
8260	NAA10	HP:0002021	Pyloric stenosis
8260	NAA10	HP:0002035	Rectal prolapse
8260	NAA10	HP:0002002	Deep philtrum
8260	NAA10	HP:0002000	Short columella
8260	NAA10	HP:0005989	Redundant neck skin
8260	NAA10	HP:0002014	Diarrhea
8260	NAA10	HP:0002015	Dysphagia
8260	NAA10	HP:0002013	Vomiting
8260	NAA10	HP:0002007	Frontal bossing
8260	NAA10	HP:0003307	Hyperlordosis
8260	NAA10	HP:0002089	Pulmonary hypoplasia
8260	NAA10	HP:0002092	Pulmonary arterial hypertension
8260	NAA10	HP:0002091	Restrictive ventilatory defect
8260	NAA10	HP:0002069	Bilateral tonic-clonic seizure
8260	NAA10	HP:0030939	Palpebral thickening
8260	NAA10	HP:0002059	Cerebral atrophy
8260	NAA10	HP:0009466	Radial deviation of finger
8260	NAA10	HP:0100598	Pulmonary edema
8260	NAA10	HP:0009473	Joint contracture of the hand
8260	NAA10	HP:0002119	Ventriculomegaly
8260	NAA10	HP:0004756	Ventricular tachycardia
8260	NAA10	HP:0004755	Supraventricular tachycardia
8260	NAA10	HP:0002104	Apnea
8260	NAA10	HP:0004737	Global glomerulosclerosis
8260	NAA10	HP:0002197	Generalized-onset seizure
8260	NAA10	HP:0002194	Delayed gross motor development
8260	NAA10	HP:0002167	Abnormality of speech or vocalization
8260	NAA10	HP:0100490	Camptodactyly of finger
8260	NAA10	HP:0010538	Small sella turcica
8260	NAA10	HP:0010508	Metatarsus valgus
8260	NAA10	HP:0011823	Chin with horizontal crease
8260	NAA10	HP:0003577	Congenital onset
8260	NAA10	HP:0002251	Aganglionic megacolon
8260	NAA10	HP:0100716	Self-injurious behavior
8260	NAA10	HP:0002213	Fine hair
8260	NAA10	HP:0020006	Ciliary body coloboma
8260	NAA10	HP:0011968	Feeding difficulties
8260	NAA10	HP:0002362	Shuffling gait
8260	NAA10	HP:0001004	Lymphedema
8260	NAA10	HP:0001018	Abnormal palmar dermatoglyphics
8260	NAA10	HP:0200021	Down-sloping shoulders
8260	NAA10	HP:0010803	Everted upper lip vermilion
8260	NAA10	HP:0009800	Maternal diabetes
8260	NAA10	HP:0033454	Tube feeding
8260	NAA10	HP:0009762	Facial wrinkling
8260	NAA10	HP:0009755	Ankyloblepharon
8260	NAA10	HP:0004969	Peripheral pulmonary artery stenosis
8260	NAA10	HP:0004209	Clinodactyly of the 5th finger
8260	NAA10	HP:0000639	Nystagmus
8260	NAA10	HP:0000618	Blindness
8260	NAA10	HP:0000612	Iris coloboma
8260	NAA10	HP:0001901	Polycythemia
8260	NAA10	HP:0010055	Broad hallux
8260	NAA10	HP:0011344	Severe global developmental delay
8260	NAA10	HP:0000684	Delayed eruption of teeth
8260	NAA10	HP:0000678	Dental crowding
8260	NAA10	HP:0000692	Tooth malposition
8260	NAA10	HP:0000690	Agenesis of maxillary lateral incisor
8260	NAA10	HP:0004322	Short stature
8260	NAA10	HP:0030680	Abnormality of cardiovascular system morphology
8260	NAA10	HP:0003043	Abnormal shoulder morphology
8260	NAA10	HP:0000767	Pectus excavatum
8260	NAA10	HP:0000737	Irritability
8260	NAA10	HP:0000742	Self-mutilation
8260	NAA10	HP:0000718	Aggressive behavior
8260	NAA10	HP:0000729	Autistic behavior
8260	NAA10	HP:0000708	Atypical behavior
8260	NAA10	HP:0000774	Narrow chest
8260	NAA10	HP:0004415	Pulmonary artery stenosis
8260	NAA10	HP:0003196	Short nose
8260	NAA10	HP:0004491	Large posterior fontanelle
8260	NAA10	HP:0000889	Abnormal clavicle morphology
8260	NAA10	HP:0000894	Short clavicles
8260	NAA10	HP:0045075	Sparse eyebrow
8260	NAA10	HP:0000973	Cutis laxa
8260	NAA10	HP:0000952	Jaundice
8260	NAA10	HP:0000964	Eczema
8260	NAA10	HP:0011675	Arrhythmia
8260	NAA10	HP:0011682	Perimembranous ventricular septal defect
8260	NAA10	HP:0000286	Epicanthus
8260	NAA10	HP:0000280	Coarse facial features
8260	NAA10	HP:0000290	Abnormality of the forehead
8260	NAA10	HP:0000260	Wide anterior fontanel
8260	NAA10	HP:0000270	Delayed cranial suture closure
8260	NAA10	HP:0030084	Clinodactyly
8260	NAA10	HP:0002808	Kyphosis
8260	NAA10	HP:0000252	Microcephaly
8260	NAA10	HP:0001582	Redundant skin
8260	NAA10	HP:0000219	Thin upper lip vermilion
8260	NAA10	HP:0000218	High palate
8260	NAA10	HP:0000215	Thick upper lip vermilion
8260	NAA10	HP:0001562	Oligohydramnios
8260	NAA10	HP:0000233	Thin vermilion border
8260	NAA10	HP:0001558	Decreased fetal movement
8260	NAA10	HP:0001537	Umbilical hernia
8260	NAA10	HP:0000202	Orofacial cleft
8260	NAA10	HP:0000204	Cleft upper lip
8260	NAA10	HP:0002835	Aspiration
8260	NAA10	HP:0001511	Intrauterine growth retardation
8260	NAA10	HP:0001510	Growth delay
8260	NAA10	HP:0012385	Camptodactyly
8260	NAA10	HP:0000384	Preauricular skin tag
8260	NAA10	HP:0000377	Abnormal pinna morphology
8260	NAA10	HP:0000396	Overfolded helix
8260	NAA10	HP:0002938	Lumbar hyperlordosis
8260	NAA10	HP:0002904	Hyperbilirubinemia
8260	NAA10	HP:0006482	Abnormality of dental morphology
8260	NAA10	HP:0000365	Hearing impairment
8260	NAA10	HP:0000369	Low-set ears
8260	NAA10	HP:0000368	Low-set, posteriorly rotated ears
8260	NAA10	HP:0000341	Narrow forehead
8260	NAA10	HP:0000343	Long philtrum
8260	NAA10	HP:0000337	Broad forehead
8260	NAA10	HP:0001664	Torsade de pointes
8260	NAA10	HP:0001684	Secundum atrial septal defect
8260	NAA10	HP:0000348	High forehead
8260	NAA10	HP:0000347	Micrognathia
8260	NAA10	HP:0001647	Bicuspid aortic valve
8260	NAA10	HP:0000316	Hypertelorism
8260	NAA10	HP:0001643	Patent ductus arteriosus
8260	NAA10	HP:0030149	Cardiogenic shock
8260	NAA10	HP:0000322	Short philtrum
8260	NAA10	HP:0001655	Patent foramen ovale
8260	NAA10	HP:0001629	Ventricular septal defect
8260	NAA10	HP:0001640	Cardiomegaly
8260	NAA10	HP:0000308	Microretrognathia
8260	NAA10	HP:0001631	Atrial septal defect
8260	NAA10	HP:0006699	Premature atrial contractions
8260	NAA10	HP:0006682	Premature ventricular contraction
8260	NAA10	HP:0000403	Recurrent otitis media
8260	NAA10	HP:0000400	Macrotia
8260	NAA10	HP:0005272	Prominent nasolabial fold
8260	NAA10	HP:0005280	Depressed nasal bridge
8260	NAA10	HP:0000482	Microcornea
8260	NAA10	HP:0000494	Downslanted palpebral fissures
8260	NAA10	HP:0000490	Deeply set eye
8260	NAA10	HP:0000492	Abnormal eyelid morphology
8260	NAA10	HP:0000454	Flared nostrils
8260	NAA10	HP:0000456	Bifid nasal tip
8260	NAA10	HP:0000473	Torticollis
8260	NAA10	HP:0000470	Short neck
8260	NAA10	HP:0000465	Webbed neck
8260	NAA10	HP:0000437	Depressed nasal tip
8260	NAA10	HP:0000411	Protruding ear
8260	NAA10	HP:0000431	Wide nasal bridge
8260	NAA10	HP:0000430	Underdeveloped nasal alae
8260	NAA10	HP:0005487	Prominent metopic ridge
8260	NAA10	HP:0000518	Cataract
8260	NAA10	HP:0000528	Anophthalmia
8260	NAA10	HP:0000527	Long eyelashes
8260	NAA10	HP:0001852	Sandal gap
8260	NAA10	HP:0000520	Proptosis
8260	NAA10	HP:0000508	Ptosis
8260	NAA10	HP:0000505	Visual impairment
8260	NAA10	HP:0000501	Glaucoma
8260	NAA10	HP:0000588	Optic disc coloboma
8260	NAA10	HP:0001891	Iron deficiency anemia
8260	NAA10	HP:0011220	Prominent forehead
8260	NAA10	HP:0000568	Microphthalmia
8260	NAA10	HP:0000567	Chorioretinal coloboma
8260	NAA10	HP:0001873	Thrombocytopenia
8270	LAGE3	HP:0001181	Adducted thumb
8270	LAGE3	HP:0001166	Arachnodactyly
8270	LAGE3	HP:0003774	Stage 5 chronic kidney disease
8270	LAGE3	HP:0002410	Aqueductal stenosis
8270	LAGE3	HP:0001276	Hypertonia
8270	LAGE3	HP:0001272	Cerebellar atrophy
8270	LAGE3	HP:0001250	Seizure
8270	LAGE3	HP:0001252	Hypotonia
8270	LAGE3	HP:0001249	Intellectual disability
8270	LAGE3	HP:0001263	Global developmental delay
8270	LAGE3	HP:0001257	Spasticity
8270	LAGE3	HP:0010978	Abnormality of immune system physiology
8270	LAGE3	HP:0000097	Focal segmental glomerulosclerosis
8270	LAGE3	HP:0000093	Proteinuria
8270	LAGE3	HP:0001310	Dysmetria
8270	LAGE3	HP:0001302	Pachygyria
8270	LAGE3	HP:0002650	Scoliosis
8270	LAGE3	HP:0000164	Abnormality of the dentition
8270	LAGE3	HP:0000100	Nephrotic syndrome
8270	LAGE3	HP:0000112	Nephropathy
8270	LAGE3	HP:0001419	X-linked recessive inheritance
8270	LAGE3	HP:0002036	Hiatus hernia
8270	LAGE3	HP:0100543	Cognitive impairment
8270	LAGE3	HP:0002059	Cerebral atrophy
8270	LAGE3	HP:0002126	Polymicrogyria
8270	LAGE3	HP:0100490	Camptodactyly of finger
8270	LAGE3	HP:0003593	Infantile onset
8270	LAGE3	HP:0002269	Abnormality of neuronal migration
8270	LAGE3	HP:0100720	Hypoplasia of the ear cartilage
8270	LAGE3	HP:0011968	Feeding difficulties
8270	LAGE3	HP:0002353	EEG abnormality
8270	LAGE3	HP:0000639	Nystagmus
8270	LAGE3	HP:0000601	Hypotelorism
8270	LAGE3	HP:0004322	Short stature
8270	LAGE3	HP:0004374	Hemiplegia/hemiparesis
8270	LAGE3	HP:0000750	Delayed speech and language development
8270	LAGE3	HP:0011463	Childhood onset
8270	LAGE3	HP:0011451	Primary microcephaly
8270	LAGE3	HP:0005108	Abnormal intervertebral disk morphology
8270	LAGE3	HP:0000252	Microcephaly
8270	LAGE3	HP:0000218	High palate
8270	LAGE3	HP:0001511	Intrauterine growth retardation
8270	LAGE3	HP:0000341	Narrow forehead
8270	LAGE3	HP:0000347	Micrognathia
8270	LAGE3	HP:0000316	Hypertelorism
8270	LAGE3	HP:0001622	Premature birth
8270	LAGE3	HP:0000400	Macrotia
8270	LAGE3	HP:0012579	Minimal change glomerulonephritis
8270	LAGE3	HP:0000565	Esotropia
8284	KDM5D	HP:0000027	Azoospermia
8284	KDM5D	HP:0001450	Y-linked inheritance
8284	KDM5D	HP:0011462	Young adult onset
8284	KDM5D	HP:0003251	Male infertility
8287	USP9Y	HP:0008734	Decreased testicular size
8287	USP9Y	HP:0008669	Abnormal spermatogenesis
8287	USP9Y	HP:0000028	Cryptorchidism
8287	USP9Y	HP:0000027	Azoospermia
8287	USP9Y	HP:0001450	Y-linked inheritance
8287	USP9Y	HP:0011961	Non-obstructive azoospermia
8287	USP9Y	HP:0011462	Young adult onset
8287	USP9Y	HP:0000798	Oligospermia
8287	USP9Y	HP:0003251	Male infertility
8288	EPX	HP:0000007	Autosomal recessive inheritance
8288	EPX	HP:0034253	Eosinophil nuclear hypersegmentation
8289	ARID1A	HP:0001156	Brachydactyly
8289	ARID1A	HP:0009928	Thick nasal alae
8289	ARID1A	HP:0010864	Intellectual disability, severe
8289	ARID1A	HP:0009882	Short distal phalanx of finger
8289	ARID1A	HP:0009879	Simplified gyral pattern
8289	ARID1A	HP:0001274	Agenesis of corpus callosum
8289	ARID1A	HP:0001273	Abnormal corpus callosum morphology
8289	ARID1A	HP:0001250	Seizure
8289	ARID1A	HP:0001252	Hypotonia
8289	ARID1A	HP:0001249	Intellectual disability
8289	ARID1A	HP:0001263	Global developmental delay
8289	ARID1A	HP:0000085	Horseshoe kidney
8289	ARID1A	HP:0001388	Joint laxity
8289	ARID1A	HP:0000047	Hypospadias
8289	ARID1A	HP:0000023	Inguinal hernia
8289	ARID1A	HP:0000028	Cryptorchidism
8289	ARID1A	HP:0008897	Postnatal growth retardation
8289	ARID1A	HP:0001344	Absent speech
8289	ARID1A	HP:0000006	Autosomal dominant inheritance
8289	ARID1A	HP:0001305	Dandy-Walker malformation
8289	ARID1A	HP:0002650	Scoliosis
8289	ARID1A	HP:0001321	Cerebellar hypoplasia
8289	ARID1A	HP:0000179	Thick lower lip vermilion
8289	ARID1A	HP:0000158	Macroglossia
8289	ARID1A	HP:0000175	Cleft palate
8289	ARID1A	HP:0000154	Wide mouth
8289	ARID1A	HP:0008947	Infantile muscular hypotonia
8289	ARID1A	HP:0000119	Abnormality of the genitourinary system
8289	ARID1A	HP:0002788	Recurrent upper respiratory tract infections
8289	ARID1A	HP:0002750	Delayed skeletal maturation
8289	ARID1A	HP:0002719	Recurrent infections
8289	ARID1A	HP:0002033	Poor suck
8289	ARID1A	HP:0011937	Hypoplastic fifth toenail
8289	ARID1A	HP:0200105	Absent fifth toenail
8289	ARID1A	HP:0200104	Absent fifth fingernail
8289	ARID1A	HP:0002209	Sparse scalp hair
8289	ARID1A	HP:0100790	Hernia
8289	ARID1A	HP:0011968	Feeding difficulties
8289	ARID1A	HP:0011951	Aspiration pneumonia
8289	ARID1A	HP:0008398	Hypoplastic fifth fingernail
8289	ARID1A	HP:0002342	Intellectual disability, moderate
8289	ARID1A	HP:0001007	Hirsutism
8289	ARID1A	HP:0000684	Delayed eruption of teeth
8289	ARID1A	HP:0001999	Abnormal facial shape
8289	ARID1A	HP:0004322	Short stature
8289	ARID1A	HP:0000752	Hyperactivity
8289	ARID1A	HP:0000750	Delayed speech and language development
8289	ARID1A	HP:0000718	Aggressive behavior
8289	ARID1A	HP:0000729	Autistic behavior
8289	ARID1A	HP:0000708	Atypical behavior
8289	ARID1A	HP:0003196	Short nose
8289	ARID1A	HP:0012810	Wide nasal base
8289	ARID1A	HP:0009237	Short 5th finger
8289	ARID1A	HP:0000998	Hypertrichosis
8289	ARID1A	HP:0000280	Coarse facial features
8289	ARID1A	HP:0000294	Low anterior hairline
8289	ARID1A	HP:0000289	Broad philtrum
8289	ARID1A	HP:0030084	Clinodactyly
8289	ARID1A	HP:0000252	Microcephaly
8289	ARID1A	HP:0002884	Hepatoblastoma
8289	ARID1A	HP:0000219	Thin upper lip vermilion
8289	ARID1A	HP:0000218	High palate
8289	ARID1A	HP:0002895	Papillary thyroid carcinoma
8289	ARID1A	HP:0001511	Intrauterine growth retardation
8289	ARID1A	HP:0001510	Growth delay
8289	ARID1A	HP:0000377	Abnormal pinna morphology
8289	ARID1A	HP:0000365	Hearing impairment
8289	ARID1A	HP:0000343	Long philtrum
8289	ARID1A	HP:0001643	Patent ductus arteriosus
8289	ARID1A	HP:0000322	Short philtrum
8289	ARID1A	HP:0001629	Ventricular septal defect
8289	ARID1A	HP:0001627	Abnormal heart morphology
8289	ARID1A	HP:0001636	Tetralogy of Fallot
8289	ARID1A	HP:0001631	Atrial septal defect
8289	ARID1A	HP:0005280	Depressed nasal bridge
8289	ARID1A	HP:0000486	Strabismus
8289	ARID1A	HP:0012471	Thick vermilion border
8289	ARID1A	HP:0001792	Small nail
8289	ARID1A	HP:0000463	Anteverted nares
8289	ARID1A	HP:0000455	Broad nasal tip
8289	ARID1A	HP:0000445	Wide nose
8289	ARID1A	HP:0000527	Long eyelashes
8289	ARID1A	HP:0001852	Sandal gap
8289	ARID1A	HP:0000508	Ptosis
8289	ARID1A	HP:0000505	Visual impairment
8289	ARID1A	HP:0011231	Prominent eyelashes
8289	ARID1A	HP:0000574	Thick eyebrow
8289	ARID1A	HP:0012523	Oral aversion
8289	ARID1A	HP:0000545	Myopia
8291	DYSF	HP:0003791	Deposits immunoreactive to beta-amyloid protein
8291	DYSF	HP:0002460	Distal muscle weakness
8291	DYSF	HP:0003749	Pelvic girdle muscle weakness
8291	DYSF	HP:0003731	Quadriceps muscle weakness
8291	DYSF	HP:0003722	Neck flexor weakness
8291	DYSF	HP:0003738	Exercise-induced myalgia
8291	DYSF	HP:0003701	Proximal muscle weakness
8291	DYSF	HP:0007340	Lower limb muscle weakness
8291	DYSF	HP:0002540	Inability to walk
8291	DYSF	HP:0002505	Loss of ambulation
8291	DYSF	HP:0003805	Rimmed vacuoles
8291	DYSF	HP:0008800	Limited hip movement
8291	DYSF	HP:0031177	Finger flexor weakness
8291	DYSF	HP:0000007	Autosomal recessive inheritance
8291	DYSF	HP:0001315	Reduced tendon reflexes
8291	DYSF	HP:0031108	Triceps weakness
8291	DYSF	HP:0008994	Proximal muscle weakness in lower limbs
8291	DYSF	HP:0008997	Proximal muscle weakness in upper limbs
8291	DYSF	HP:0008981	Calf muscle hypertrophy
8291	DYSF	HP:0008959	Distal upper limb muscle weakness
8291	DYSF	HP:0008963	Tibialis muscle weakness
8291	DYSF	HP:0008954	Intrinsic hand muscle atrophy
8291	DYSF	HP:0008944	Distal lower limb amyotrophy
8291	DYSF	HP:0002747	Respiratory insufficiency due to muscle weakness
8291	DYSF	HP:0003325	Limb-girdle muscle weakness
8291	DYSF	HP:0003326	Myalgia
8291	DYSF	HP:0002015	Dysphagia
8291	DYSF	HP:0003307	Hyperlordosis
8291	DYSF	HP:0003306	Spinal rigidity
8291	DYSF	HP:0002072	Chorea
8291	DYSF	HP:0100515	Pollakisuria
8291	DYSF	HP:0011712	Right bundle branch block
8291	DYSF	HP:0003474	Somatic sensory dysfunction
8291	DYSF	HP:0003458	EMG: myopathic abnormalities
8291	DYSF	HP:0003438	Absent Achilles reflex
8291	DYSF	HP:0010546	Muscle fibrillation
8291	DYSF	HP:0003581	Adult onset
8291	DYSF	HP:0003555	Muscle fiber splitting
8291	DYSF	HP:0003552	Muscle stiffness
8291	DYSF	HP:0003551	Difficulty climbing stairs
8291	DYSF	HP:0200101	Decreased/absent ankle reflexes
8291	DYSF	HP:0003547	Shoulder girdle muscle weakness
8291	DYSF	HP:0003560	Muscular dystrophy
8291	DYSF	HP:0003557	Increased variability in muscle fiber diameter
8291	DYSF	HP:0100748	Muscular edema
8291	DYSF	HP:0003698	Difficulty standing
8291	DYSF	HP:0003693	Distal amyotrophy
8291	DYSF	HP:0003691	Scapular winging
8291	DYSF	HP:0002355	Difficulty walking
8291	DYSF	HP:0003677	Slowly progressive
8291	DYSF	HP:0003678	Rapidly progressive
8291	DYSF	HP:0007149	Distal upper limb amyotrophy
8291	DYSF	HP:0007126	Proximal amyotrophy
8291	DYSF	HP:0003621	Juvenile onset
8291	DYSF	HP:0011399	Tibialis anterior muscle atrophy
8291	DYSF	HP:0009072	Decreased Achilles reflex
8291	DYSF	HP:0009073	Progressive proximal muscle weakness
8291	DYSF	HP:0009053	Distal lower limb muscle weakness
8291	DYSF	HP:0009046	Difficulty running
8291	DYSF	HP:0012664	Reduced left ventricular ejection fraction
8291	DYSF	HP:0009025	Increased connective tissue
8291	DYSF	HP:0009027	Foot dorsiflexor weakness
8291	DYSF	HP:0009005	Weakness of the intrinsic hand muscles
8291	DYSF	HP:0011462	Young adult onset
8291	DYSF	HP:0003115	Abnormal EKG
8291	DYSF	HP:0003198	Myopathy
8291	DYSF	HP:0040081	Abnormal circulating creatine kinase concentration
8291	DYSF	HP:0003236	Elevated circulating creatine kinase concentration
8291	DYSF	HP:0003202	Skeletal muscle atrophy
8291	DYSF	HP:0045054	Brachial plexus neuropathy
8291	DYSF	HP:0005085	Limited knee flexion/extension
8291	DYSF	HP:0030051	Tip-toe gait
8291	DYSF	HP:0012378	Fatigue
8291	DYSF	HP:0030114	Absent muscle fiber dysferlin
8291	DYSF	HP:0001667	Right ventricular hypertrophy
8291	DYSF	HP:0002996	Limited elbow movement
8291	DYSF	HP:0001626	Abnormality of the cardiovascular system
8291	DYSF	HP:0001640	Cardiomegaly
8291	DYSF	HP:0000467	Neck muscle weakness
8291	DYSF	HP:0001761	Pes cavus
8292	COLQ	HP:0002460	Distal muscle weakness
8292	COLQ	HP:0002421	Poor head control
8292	COLQ	HP:0003701	Proximal muscle weakness
8292	COLQ	HP:0001290	Generalized hypotonia
8292	COLQ	HP:0001284	Areflexia
8292	COLQ	HP:0001252	Hypotonia
8292	COLQ	HP:0001249	Intellectual disability
8292	COLQ	HP:0001265	Hyporeflexia
8292	COLQ	HP:0001260	Dysarthria
8292	COLQ	HP:0001263	Global developmental delay
8292	COLQ	HP:0002515	Waddling gait
8292	COLQ	HP:0003803	Type 1 muscle fiber predominance
8292	COLQ	HP:0008872	Feeding difficulties in infancy
8292	COLQ	HP:0001324	Muscle weakness
8292	COLQ	HP:0000007	Autosomal recessive inheritance
8292	COLQ	HP:0002650	Scoliosis
8292	COLQ	HP:0002643	Neonatal respiratory distress
8292	COLQ	HP:0001488	Bilateral ptosis
8292	COLQ	HP:0006251	Limited wrist extension
8292	COLQ	HP:0002783	Recurrent lower respiratory tract infections
8292	COLQ	HP:0002791	Hypoventilation
8292	COLQ	HP:0002747	Respiratory insufficiency due to muscle weakness
8292	COLQ	HP:0002033	Poor suck
8292	COLQ	HP:0003327	Axial muscle weakness
8292	COLQ	HP:0002015	Dysphagia
8292	COLQ	HP:0003307	Hyperlordosis
8292	COLQ	HP:0003324	Generalized muscle weakness
8292	COLQ	HP:0002098	Respiratory distress
8292	COLQ	HP:0002092	Pulmonary arterial hypertension
8292	COLQ	HP:0002093	Respiratory insufficiency
8292	COLQ	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction
8292	COLQ	HP:0003388	Easy fatigability
8292	COLQ	HP:0003473	Fatigable weakness
8292	COLQ	HP:0003443	Decreased size of nerve terminals
8292	COLQ	HP:0003436	Prolonged miniature endplate currents
8292	COLQ	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
8292	COLQ	HP:0010535	Sleep apnea
8292	COLQ	HP:0003593	Infantile onset
8292	COLQ	HP:0003577	Congenital onset
8292	COLQ	HP:0003554	Type 2 muscle fiber atrophy
8292	COLQ	HP:0010628	Facial palsy
8292	COLQ	HP:0003691	Scapular winging
8292	COLQ	HP:0003690	Limb muscle weakness
8292	COLQ	HP:0002359	Frequent falls
8292	COLQ	HP:0003621	Juvenile onset
8292	COLQ	HP:0001999	Abnormal facial shape
8292	COLQ	HP:0003198	Myopathy
8292	COLQ	HP:0003199	Decreased muscle mass
8292	COLQ	HP:0003202	Skeletal muscle atrophy
8292	COLQ	HP:0002815	Abnormality of the knee
8292	COLQ	HP:0000218	High palate
8292	COLQ	HP:0002875	Exertional dyspnea
8292	COLQ	HP:0000207	Triangular mouth
8292	COLQ	HP:0012379	Abnormal circulating enzyme concentration or activity
8292	COLQ	HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
8292	COLQ	HP:0030208	Anti-acetylcholine receptor antibody positivity
8292	COLQ	HP:0005216	Impaired mastication
8292	COLQ	HP:0001612	Weak cry
8292	COLQ	HP:0001667	Right ventricular hypertrophy
8292	COLQ	HP:0000303	Mandibular prognathia
8292	COLQ	HP:0007941	Limited extraocular movements
8292	COLQ	HP:0030211	Slow pupillary light response
8292	COLQ	HP:0030237	Hand muscle weakness
8292	COLQ	HP:0000467	Neck muscle weakness
8292	COLQ	HP:0001762	Talipes equinovarus
8292	COLQ	HP:0000508	Ptosis
8292	COLQ	HP:0000597	Ophthalmoparesis
8294	H4C9	HP:0001252	Hypotonia
8294	H4C9	HP:0001249	Intellectual disability
8294	H4C9	HP:0001263	Global developmental delay
8294	H4C9	HP:0002558	Supernumerary nipple
8294	H4C9	HP:0002553	Highly arched eyebrow
8294	H4C9	HP:0000076	Vesicoureteral reflux
8294	H4C9	HP:0000054	Micropenis
8294	H4C9	HP:0001382	Joint hypermobility
8294	H4C9	HP:0000028	Cryptorchidism
8294	H4C9	HP:0000006	Autosomal dominant inheritance
8294	H4C9	HP:0002650	Scoliosis
8294	H4C9	HP:0007663	Reduced visual acuity
8294	H4C9	HP:0000122	Unilateral renal agenesis
8294	H4C9	HP:0004691	2-3 toe syndactyly
8294	H4C9	HP:0002002	Deep philtrum
8294	H4C9	HP:0011939	3-4 finger cutaneous syndactyly
8294	H4C9	HP:0100490	Camptodactyly of finger
8294	H4C9	HP:0003593	Infantile onset
8294	H4C9	HP:0011968	Feeding difficulties
8294	H4C9	HP:0010803	Everted upper lip vermilion
8294	H4C9	HP:0001909	Leukemia
8294	H4C9	HP:0011318	Bicoronal synostosis
8294	H4C9	HP:0004467	Preauricular pit
8294	H4C9	HP:0000954	Single transverse palmar crease
8294	H4C9	HP:0002808	Kyphosis
8294	H4C9	HP:0000238	Hydrocephalus
8294	H4C9	HP:0002863	Myelodysplasia
8294	H4C9	HP:0000384	Preauricular skin tag
8294	H4C9	HP:0000365	Hearing impairment
8294	H4C9	HP:0000358	Posteriorly rotated ears
8294	H4C9	HP:0000369	Low-set ears
8294	H4C9	HP:0000341	Narrow forehead
8294	H4C9	HP:0001684	Secundum atrial septal defect
8294	H4C9	HP:0000347	Micrognathia
8294	H4C9	HP:0000316	Hypertelorism
8294	H4C9	HP:0000322	Short philtrum
8294	H4C9	HP:0005280	Depressed nasal bridge
8294	H4C9	HP:0000486	Strabismus
8294	H4C9	HP:0000494	Downslanted palpebral fissures
8294	H4C9	HP:0000426	Prominent nasal bridge
8294	H4C9	HP:0001852	Sandal gap
8294	H4C9	HP:0001822	Hallux valgus
8294	H4C9	HP:0001838	Rocker bottom foot
8294	H4C9	HP:0012520	Dilation of Virchow-Robin spaces
8295	TRRAP	HP:0002465	Poor speech
8295	TRRAP	HP:0010862	Delayed fine motor development
8295	TRRAP	HP:0001250	Seizure
8295	TRRAP	HP:0001252	Hypotonia
8295	TRRAP	HP:0001249	Intellectual disability
8295	TRRAP	HP:0001263	Global developmental delay
8295	TRRAP	HP:0002558	Supernumerary nipple
8295	TRRAP	HP:0008755	Laryngotracheomalacia
8295	TRRAP	HP:0007366	Atrophy/Degeneration affecting the brainstem
8295	TRRAP	HP:0002553	Highly arched eyebrow
8295	TRRAP	HP:0000089	Renal hypoplasia
8295	TRRAP	HP:0000076	Vesicoureteral reflux
8295	TRRAP	HP:0000046	Small scrotum
8295	TRRAP	HP:0000023	Inguinal hernia
8295	TRRAP	HP:0000028	Cryptorchidism
8295	TRRAP	HP:0001344	Absent speech
8295	TRRAP	HP:0000006	Autosomal dominant inheritance
8295	TRRAP	HP:0001320	Cerebellar vermis hypoplasia
8295	TRRAP	HP:0002650	Scoliosis
8295	TRRAP	HP:0000175	Cleft palate
8295	TRRAP	HP:0000154	Wide mouth
8295	TRRAP	HP:0410030	Cleft lip
8295	TRRAP	HP:0000126	Hydronephrosis
8295	TRRAP	HP:0000107	Renal cyst
8295	TRRAP	HP:0002719	Recurrent infections
8295	TRRAP	HP:0002092	Pulmonary arterial hypertension
8295	TRRAP	HP:0002079	Hypoplasia of the corpus callosum
8295	TRRAP	HP:0002120	Cerebral cortical atrophy
8295	TRRAP	HP:0002119	Ventriculomegaly
8295	TRRAP	HP:0002126	Polymicrogyria
8295	TRRAP	HP:0002188	Delayed CNS myelination
8295	TRRAP	HP:0002194	Delayed gross motor development
8295	TRRAP	HP:0002164	Nail dysplasia
8295	TRRAP	HP:0011968	Feeding difficulties
8295	TRRAP	HP:0002395	Lower limb hyperreflexia
8295	TRRAP	HP:0004209	Clinodactyly of the 5th finger
8295	TRRAP	HP:0000601	Hypotelorism
8295	TRRAP	HP:0001999	Abnormal facial shape
8295	TRRAP	HP:0004322	Short stature
8295	TRRAP	HP:0031936	Delayed ability to walk
8295	TRRAP	HP:0000738	Hallucinations
8295	TRRAP	HP:0000750	Delayed speech and language development
8295	TRRAP	HP:0000729	Autistic behavior
8295	TRRAP	HP:0000709	Psychosis
8295	TRRAP	HP:0011463	Childhood onset
8295	TRRAP	HP:0000776	Congenital diaphragmatic hernia
8295	TRRAP	HP:0005709	2-3 toe cutaneous syndactyly
8295	TRRAP	HP:0003196	Short nose
8295	TRRAP	HP:0000286	Epicanthus
8295	TRRAP	HP:0000252	Microcephaly
8295	TRRAP	HP:0000219	Thin upper lip vermilion
8295	TRRAP	HP:0001537	Umbilical hernia
8295	TRRAP	HP:0001539	Omphalocele
8295	TRRAP	HP:0000365	Hearing impairment
8295	TRRAP	HP:0000358	Posteriorly rotated ears
8295	TRRAP	HP:0000375	Abnormal cochlea morphology
8295	TRRAP	HP:0000369	Low-set ears
8295	TRRAP	HP:0001680	Coarctation of aorta
8295	TRRAP	HP:0000347	Micrognathia
8295	TRRAP	HP:0000319	Smooth philtrum
8295	TRRAP	HP:0000316	Hypertelorism
8295	TRRAP	HP:0001643	Patent ductus arteriosus
8295	TRRAP	HP:0000322	Short philtrum
8295	TRRAP	HP:0001655	Patent foramen ovale
8295	TRRAP	HP:0001629	Ventricular septal defect
8295	TRRAP	HP:0007925	Lacrimal duct aplasia
8295	TRRAP	HP:0000407	Sensorineural hearing impairment
8295	TRRAP	HP:0005280	Depressed nasal bridge
8295	TRRAP	HP:0000490	Deeply set eye
8295	TRRAP	HP:0001792	Small nail
8295	TRRAP	HP:0000463	Anteverted nares
8295	TRRAP	HP:0000460	Narrow nose
8295	TRRAP	HP:0001773	Short foot
8295	TRRAP	HP:0030260	Microphallus
8295	TRRAP	HP:0000414	Bulbous nose
8295	TRRAP	HP:0000431	Wide nasal bridge
8295	TRRAP	HP:0000426	Prominent nasal bridge
8295	TRRAP	HP:0000505	Visual impairment
8295	TRRAP	HP:0000582	Upslanted palpebral fissure
8295	TRRAP	HP:0000588	Optic disc coloboma
8295	TRRAP	HP:0011220	Prominent forehead
8301	PICALM	HP:0000006	Autosomal dominant inheritance
8301	PICALM	HP:0001428	Somatic mutation
8301	PICALM	HP:0004808	Acute myeloid leukemia
8302	KLRC4	HP:0007256	Abnormal pyramidal sign
8302	KLRC4	HP:0010885	Avascular necrosis
8302	KLRC4	HP:0100820	Glomerulopathy
8302	KLRC4	HP:0001269	Hemiparesis
8302	KLRC4	HP:0001287	Meningitis
8302	KLRC4	HP:0001289	Confusion
8302	KLRC4	HP:0001288	Gait disturbance
8302	KLRC4	HP:0001250	Seizure
8302	KLRC4	HP:0001251	Ataxia
8302	KLRC4	HP:0002516	Increased intracranial pressure
8302	KLRC4	HP:0000083	Renal insufficiency
8302	KLRC4	HP:0001369	Arthritis
8302	KLRC4	HP:0001347	Hyperreflexia
8302	KLRC4	HP:0002637	Cerebral ischemia
8302	KLRC4	HP:0002633	Vasculitis
8302	KLRC4	HP:0000155	Oral ulcer
8302	KLRC4	HP:0001482	Subcutaneous nodule
8302	KLRC4	HP:0002716	Lymphadenopathy
8302	KLRC4	HP:0002024	Malabsorption
8302	KLRC4	HP:0002017	Nausea and vomiting
8302	KLRC4	HP:0002027	Abdominal pain
8302	KLRC4	HP:0003326	Myalgia
8302	KLRC4	HP:0002076	Migraine
8302	KLRC4	HP:0002039	Anorexia
8302	KLRC4	HP:0100584	Endocarditis
8302	KLRC4	HP:0002102	Pleuritis
8302	KLRC4	HP:0002113	Pulmonary infiltrates
8302	KLRC4	HP:0002105	Hemoptysis
8302	KLRC4	HP:0003401	Paresthesia
8302	KLRC4	HP:0002239	Gastrointestinal hemorrhage
8302	KLRC4	HP:0002202	Pleural effusion
8302	KLRC4	HP:0002204	Pulmonary embolism
8302	KLRC4	HP:0100796	Orchitis
8302	KLRC4	HP:0100758	Gangrene
8302	KLRC4	HP:0002383	Infectious encephalitis
8302	KLRC4	HP:0001061	Acne
8302	KLRC4	HP:0002376	Developmental regression
8302	KLRC4	HP:0002354	Memory impairment
8302	KLRC4	HP:0002321	Vertigo
8302	KLRC4	HP:0100653	Optic neuritis
8302	KLRC4	HP:0100654	Retrobulbar optic neuritis
8302	KLRC4	HP:0200034	Papule
8302	KLRC4	HP:0001097	Keratoconjunctivitis sicca
8302	KLRC4	HP:0100614	Myositis
8302	KLRC4	HP:0004936	Venous thrombosis
8302	KLRC4	HP:0006824	Cranial nerve paralysis
8302	KLRC4	HP:0000618	Blindness
8302	KLRC4	HP:0000613	Photophobia
8302	KLRC4	HP:0001945	Fever
8302	KLRC4	HP:0012649	Increased inflammatory response
8302	KLRC4	HP:0000737	Irritability
8302	KLRC4	HP:0000708	Atypical behavior
8302	KLRC4	HP:0004420	Arterial thrombosis
8302	KLRC4	HP:0100326	Immunologic hypersensitivity
8302	KLRC4	HP:0008066	Abnormal blistering of the skin
8302	KLRC4	HP:0002829	Arthralgia
8302	KLRC4	HP:0012378	Fatigue
8302	KLRC4	HP:0001658	Myocardial infarction
8302	KLRC4	HP:0001659	Aortic regurgitation
8302	KLRC4	HP:0001653	Mitral regurgitation
8302	KLRC4	HP:0001637	Abnormal myocardium morphology
8302	KLRC4	HP:0001733	Pancreatitis
8302	KLRC4	HP:0001701	Pericarditis
8302	KLRC4	HP:0000488	Retinopathy
8302	KLRC4	HP:0011107	Recurrent aphthous stomatitis
8302	KLRC4	HP:0001744	Splenomegaly
8302	KLRC4	HP:0000518	Cataract
8302	KLRC4	HP:0001824	Weight loss
8309	ACOX2	HP:0001256	Intellectual disability, mild
8309	ACOX2	HP:0001251	Ataxia
8309	ACOX2	HP:0001263	Global developmental delay
8309	ACOX2	HP:0002570	Steatorrhea
8309	ACOX2	HP:0001350	Slurred speech
8309	ACOX2	HP:0000007	Autosomal recessive inheritance
8309	ACOX2	HP:0001310	Dysmetria
8309	ACOX2	HP:0002066	Gait ataxia
8309	ACOX2	HP:0100512	Low levels of vitamin D
8309	ACOX2	HP:0003593	Infantile onset
8309	ACOX2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
8309	ACOX2	HP:0031964	Elevated circulating alanine aminotransferase concentration
8309	ACOX2	HP:0000750	Delayed speech and language development
8309	ACOX2	HP:0045014	Hypolipidemia
8309	ACOX2	HP:0000511	Vertical supranuclear gaze palsy
8312	AXIN1	HP:0003762	Uterus didelphys
8312	AXIN1	HP:0000073	Ureteral duplication
8312	AXIN1	HP:0001428	Somatic mutation
8312	AXIN1	HP:0001402	Hepatocellular carcinoma
8312	AXIN1	HP:0001413	Micronodular cirrhosis
8312	AXIN1	HP:0006572	Subacute progressive viral hepatitis
8313	AXIN2	HP:0000006	Autosomal dominant inheritance
8313	AXIN2	HP:0033769	Fundic gland polyposis
8313	AXIN2	HP:0006342	Peg-shaped maxillary lateral incisors
8313	AXIN2	HP:0006344	Abnormality of primary molar morphology
8313	AXIN2	HP:0006336	Short dental root
8313	AXIN2	HP:0006297	Enamel hypoplasia
8313	AXIN2	HP:0006289	Agenesis of central incisor
8313	AXIN2	HP:0001428	Somatic mutation
8313	AXIN2	HP:0002223	Absent eyebrow
8313	AXIN2	HP:0002215	Sparse axillary hair
8313	AXIN2	HP:0002231	Sparse body hair
8313	AXIN2	HP:0002209	Sparse scalp hair
8313	AXIN2	HP:0100743	Neoplasm of the rectum
8313	AXIN2	HP:0200063	Colorectal polyposis
8313	AXIN2	HP:0010764	Short eyelashes
8313	AXIN2	HP:0005584	Renal cell carcinoma
8313	AXIN2	HP:0000696	Delayed eruption of permanent teeth
8313	AXIN2	HP:0000684	Delayed eruption of teeth
8313	AXIN2	HP:0000679	Taurodontia
8313	AXIN2	HP:0000677	Oligodontia
8313	AXIN2	HP:0000691	Microdontia
8313	AXIN2	HP:0000690	Agenesis of maxillary lateral incisor
8313	AXIN2	HP:0000689	Dental malocclusion
8313	AXIN2	HP:0000685	Hypoplasia of teeth
8313	AXIN2	HP:0000687	Widely spaced teeth
8313	AXIN2	HP:0003002	Breast carcinoma
8313	AXIN2	HP:0003003	Colon cancer
8313	AXIN2	HP:0000968	Ectodermal dysplasia
8313	AXIN2	HP:0008070	Sparse hair
8313	AXIN2	HP:0002891	Uterine leiomyosarcoma
8313	AXIN2	HP:0000202	Orofacial cleft
8313	AXIN2	HP:0011078	Abnormality of canine
8313	AXIN2	HP:0011053	Agenesis of mandibular premolar
8313	AXIN2	HP:0011051	Agenesis of premolar
8313	AXIN2	HP:0011056	Agenesis of first permanent molar tooth
8313	AXIN2	HP:0005216	Impaired mastication
8313	AXIN2	HP:0005227	Adenomatous colonic polyposis
8313	AXIN2	HP:0006482	Abnormality of dental morphology
8313	AXIN2	HP:0012472	Eclabion
8313	AXIN2	HP:0006753	Neoplasm of the stomach
8313	AXIN2	HP:0006740	Transitional cell carcinoma of the bladder
8313	AXIN2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
8313	AXIN2	HP:3000050	Abnormal odontoid tissue morphology
8313	AXIN2	HP:0011219	Short face
8314	BAP1	HP:0025142	Constitutional symptom
8314	BAP1	HP:0001156	Brachydactyly
8314	BAP1	HP:0010920	Zonular cataract
8314	BAP1	HP:0003764	Nevus
8314	BAP1	HP:0001270	Motor delay
8314	BAP1	HP:0001269	Hemiparesis
8314	BAP1	HP:0001279	Syncope
8314	BAP1	HP:0001250	Seizure
8314	BAP1	HP:0001252	Hypotonia
8314	BAP1	HP:0001251	Ataxia
8314	BAP1	HP:0001249	Intellectual disability
8314	BAP1	HP:0001263	Global developmental delay
8314	BAP1	HP:0001262	Excessive daytime somnolence
8314	BAP1	HP:0006101	Finger syndactyly
8314	BAP1	HP:0031041	Obstruction of the superior vena cava
8314	BAP1	HP:0010997	Chromosomal breakage induced by ionizing radiation
8314	BAP1	HP:0007359	Focal-onset seizure
8314	BAP1	HP:0007340	Lower limb muscle weakness
8314	BAP1	HP:0002516	Increased intracranial pressure
8314	BAP1	HP:0002512	Brain stem compression
8314	BAP1	HP:0012055	Ciliary body melanoma
8314	BAP1	HP:0012056	Cutaneous melanoma
8314	BAP1	HP:0012054	Choroidal melanoma
8314	BAP1	HP:0000044	Hypogonadotropic hypogonadism
8314	BAP1	HP:0001385	Hip dysplasia
8314	BAP1	HP:0000020	Urinary incontinence
8314	BAP1	HP:0001342	Cerebral hemorrhage
8314	BAP1	HP:0000006	Autosomal dominant inheritance
8314	BAP1	HP:0002650	Scoliosis
8314	BAP1	HP:0001317	Abnormal cerebellum morphology
8314	BAP1	HP:0000141	Amenorrhea
8314	BAP1	HP:0001480	Freckling
8314	BAP1	HP:0002795	Abnormal respiratory system physiology
8314	BAP1	HP:0000126	Hydronephrosis
8314	BAP1	HP:0002716	Lymphadenopathy
8314	BAP1	HP:0002017	Nausea and vomiting
8314	BAP1	HP:0002015	Dysphagia
8314	BAP1	HP:0002007	Frontal bossing
8314	BAP1	HP:0100533	Inflammatory abnormality of the eye
8314	BAP1	HP:0002088	Abnormal lung morphology
8314	BAP1	HP:0100543	Cognitive impairment
8314	BAP1	HP:0002098	Respiratory distress
8314	BAP1	HP:0002094	Dyspnea
8314	BAP1	HP:0002071	Abnormality of extrapyramidal motor function
8314	BAP1	HP:0011752	Neoplasm of the posterior pituitary
8314	BAP1	HP:0011750	Neoplasm of the anterior pituitary
8314	BAP1	HP:0011730	Abnormal central sensory function
8314	BAP1	HP:0008163	Decreased circulating cortisol level
8314	BAP1	HP:0003484	Upper limb muscle weakness
8314	BAP1	HP:0002103	Abnormal pleura morphology
8314	BAP1	HP:0003418	Back pain
8314	BAP1	HP:0009623	Proximal placement of thumb
8314	BAP1	HP:0002167	Abnormality of speech or vocalization
8314	BAP1	HP:0008240	Secondary growth hormone deficiency
8314	BAP1	HP:0008245	Pituitary hypothyroidism
8314	BAP1	HP:0008237	Hypothalamic hypothyroidism
8314	BAP1	HP:0010534	Transient global amnesia
8314	BAP1	HP:0008214	Decreased serum estradiol
8314	BAP1	HP:0008202	Reduced circulating prolactin concentration
8314	BAP1	HP:0003596	Middle age onset
8314	BAP1	HP:0003577	Congenital onset
8314	BAP1	HP:0002240	Hepatomegaly
8314	BAP1	HP:0003584	Late onset
8314	BAP1	HP:0003581	Adult onset
8314	BAP1	HP:0002202	Pleural effusion
8314	BAP1	HP:0100763	Abnormality of the lymphatic system
8314	BAP1	HP:0100749	Chest pain
8314	BAP1	HP:0007011	Fourth cranial nerve palsy
8314	BAP1	HP:0007018	Attention deficit hyperactivity disorder
8314	BAP1	HP:0011968	Feeding difficulties
8314	BAP1	HP:0010628	Facial palsy
8314	BAP1	HP:0001067	Neurofibromas
8314	BAP1	HP:0002355	Difficulty walking
8314	BAP1	HP:0002354	Memory impairment
8314	BAP1	HP:0002315	Headache
8314	BAP1	HP:0100648	Neoplasm of the tongue
8314	BAP1	HP:0200026	Ocular pain
8314	BAP1	HP:0100661	Trigeminal neuralgia
8314	BAP1	HP:0010828	Hemifacial spasm
8314	BAP1	HP:0010804	Tented upper lip vermilion
8314	BAP1	HP:0001098	Abnormal fundus morphology
8314	BAP1	HP:0001085	Papilledema
8314	BAP1	HP:0008494	Inferior lens subluxation
8314	BAP1	HP:0030521	Bitemporal hemianopia
8314	BAP1	HP:0006824	Cranial nerve paralysis
8314	BAP1	HP:0030532	Visual acuity test abnormality
8314	BAP1	HP:0005584	Renal cell carcinoma
8314	BAP1	HP:0000618	Blindness
8314	BAP1	HP:0000602	Ophthalmoplegia
8314	BAP1	HP:0012691	Focal T2 hypointense thalamic lesion
8314	BAP1	HP:0030490	Exudative vitreoretinopathy
8314	BAP1	HP:0012658	Abnormal brain FDG positron emission tomography
8314	BAP1	HP:0000687	Widely spaced teeth
8314	BAP1	HP:0004302	Functional motor deficit
8314	BAP1	HP:0000802	Impotence
8314	BAP1	HP:0100010	Spinal meningioma
8314	BAP1	HP:0100013	Neoplasm of the breast
8314	BAP1	HP:0100009	Intracranial meningioma
8314	BAP1	HP:0012735	Cough
8314	BAP1	HP:0000765	Abnormal thorax morphology
8314	BAP1	HP:0000750	Delayed speech and language development
8314	BAP1	HP:0000712	Emotional lability
8314	BAP1	HP:0000729	Autistic behavior
8314	BAP1	HP:0100001	Malignant mesothelioma
8314	BAP1	HP:0011499	Mydriasis
8314	BAP1	HP:0030591	Abnormal kinetic perimetry test
8314	BAP1	HP:0011462	Young adult onset
8314	BAP1	HP:0011442	Abnormal central motor function
8314	BAP1	HP:0030766	Ear pain
8314	BAP1	HP:0030786	Photopsia
8314	BAP1	HP:0004408	Abnormality of the sense of smell
8314	BAP1	HP:0011524	Iris melanoma
8314	BAP1	HP:0000870	Increased circulating prolactin concentration
8314	BAP1	HP:0030878	Abnormality on pulmonary function testing
8314	BAP1	HP:0045026	Abnormal mediastinum morphology
8314	BAP1	HP:0030800	Abnormal visual accommodation
8314	BAP1	HP:0000998	Hypertrichosis
8314	BAP1	HP:0000958	Dry skin
8314	BAP1	HP:0000960	Sacral dimple
8314	BAP1	HP:0040171	Decreased serum testosterone concentration
8314	BAP1	HP:0008069	Neoplasm of the skin
8314	BAP1	HP:0007715	Weak extraocular muscles
8314	BAP1	HP:0007716	Uveal melanoma
8314	BAP1	HP:0012285	Abnormal hypothalamus physiology
8314	BAP1	HP:0000280	Coarse facial features
8314	BAP1	HP:0001595	Abnormal hair morphology
8314	BAP1	HP:0001596	Alopecia
8314	BAP1	HP:0012246	Oculomotor nerve palsy
8314	BAP1	HP:0030078	Lung adenocarcinoma
8314	BAP1	HP:0000238	Hydrocephalus
8314	BAP1	HP:0000248	Brachycephaly
8314	BAP1	HP:0000218	High palate
8314	BAP1	HP:0002894	Neoplasm of the pancreas
8314	BAP1	HP:0002861	Melanoma
8314	BAP1	HP:0002858	Meningioma
8314	BAP1	HP:0000207	Triangular mouth
8314	BAP1	HP:0001510	Growth delay
8314	BAP1	HP:0001513	Obesity
8314	BAP1	HP:0011025	Abnormal cardiovascular system physiology
8314	BAP1	HP:0006520	Progressive pulmonary function impairment
8314	BAP1	HP:0002920	Decreased circulating ACTH level
8314	BAP1	HP:0000360	Tinnitus
8314	BAP1	HP:0011003	High myopia
8314	BAP1	HP:0000369	Low-set ears
8314	BAP1	HP:0000343	Long philtrum
8314	BAP1	HP:0001629	Ventricular septal defect
8314	BAP1	HP:0007924	Slow decrease in visual acuity
8314	BAP1	HP:0007902	Vitreous hemorrhage
8314	BAP1	HP:0007906	Ocular hypertension
8314	BAP1	HP:0000403	Recurrent otitis media
8314	BAP1	HP:0000483	Astigmatism
8314	BAP1	HP:0000486	Strabismus
8314	BAP1	HP:0000494	Downslanted palpebral fissures
8314	BAP1	HP:0000490	Deeply set eye
8314	BAP1	HP:0011133	Increased sensitivity to ionizing radiation
8314	BAP1	HP:0000488	Retinopathy
8314	BAP1	HP:0000463	Anteverted nares
8314	BAP1	HP:0000470	Short neck
8314	BAP1	HP:0001762	Talipes equinovarus
8314	BAP1	HP:0006753	Neoplasm of the stomach
8314	BAP1	HP:0012508	Metamorphopsia
8314	BAP1	HP:0012505	Enlarged pituitary gland
8314	BAP1	HP:0000520	Proptosis
8314	BAP1	HP:0001824	Weight loss
8314	BAP1	HP:0001838	Rocker bottom foot
8314	BAP1	HP:0000508	Ptosis
8314	BAP1	HP:0030344	Decreased circulating luteinizing hormone level
8314	BAP1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
8314	BAP1	HP:0000572	Visual loss
8314	BAP1	HP:0000541	Retinal detachment
8314	BAP1	HP:0000539	Abnormality of refraction
8318	CDC45	HP:0001177	Preaxial hand polydactyly
8318	CDC45	HP:0009939	Mandibular aplasia
8318	CDC45	HP:0009892	Anotia
8318	CDC45	HP:0008551	Microtia
8318	CDC45	HP:0001249	Intellectual disability
8318	CDC45	HP:0001263	Global developmental delay
8318	CDC45	HP:0008736	Hypoplasia of penis
8318	CDC45	HP:0100867	Duodenal stenosis
8318	CDC45	HP:0008665	Clitoral hypertrophy
8318	CDC45	HP:0001217	Clubbing
8318	CDC45	HP:0000064	Hypoplastic labia minora
8318	CDC45	HP:0000060	Clitoral hypoplasia
8318	CDC45	HP:0000059	Hypoplastic labia majora
8318	CDC45	HP:0000076	Vesicoureteral reflux
8318	CDC45	HP:0000039	Epispadias
8318	CDC45	HP:0000054	Micropenis
8318	CDC45	HP:0001388	Joint laxity
8318	CDC45	HP:0000047	Hypospadias
8318	CDC45	HP:0001363	Craniosynostosis
8318	CDC45	HP:0000028	Cryptorchidism
8318	CDC45	HP:0001328	Specific learning disability
8318	CDC45	HP:0000007	Autosomal recessive inheritance
8318	CDC45	HP:0002650	Scoliosis
8318	CDC45	HP:0000193	Bifid uvula
8318	CDC45	HP:0000160	Narrow mouth
8318	CDC45	HP:0000176	Submucous cleft hard palate
8318	CDC45	HP:0000175	Cleft palate
8318	CDC45	HP:0002705	High, narrow palate
8318	CDC45	HP:0002750	Delayed skeletal maturation
8318	CDC45	HP:0002025	Anal stenosis
8318	CDC45	HP:0002023	Anal atresia
8318	CDC45	HP:0004691	2-3 toe syndactyly
8318	CDC45	HP:0002089	Pulmonary hypoplasia
8318	CDC45	HP:0002098	Respiratory distress
8318	CDC45	HP:0002094	Dyspnea
8318	CDC45	HP:0011706	Second degree atrioventricular block
8318	CDC45	HP:0005930	Abnormal epiphysis morphology
8318	CDC45	HP:0003422	Vertebral segmentation defect
8318	CDC45	HP:0100490	Camptodactyly of finger
8318	CDC45	HP:0003577	Congenital onset
8318	CDC45	HP:0100783	Breast aplasia
8318	CDC45	HP:0010709	2-4 finger syndactyly
8318	CDC45	HP:0011968	Feeding difficulties
8318	CDC45	HP:0003510	Severe short stature
8318	CDC45	HP:0007099	Chiari type I malformation
8318	CDC45	HP:0004209	Clinodactyly of the 5th finger
8318	CDC45	HP:0004325	Decreased body weight
8318	CDC45	HP:0004322	Short stature
8318	CDC45	HP:0003083	Dislocated radial head
8318	CDC45	HP:0005692	Joint hyperflexibility
8318	CDC45	HP:0003042	Elbow dislocation
8318	CDC45	HP:0000772	Abnormal rib morphology
8318	CDC45	HP:0012722	Heart block
8318	CDC45	HP:0004442	Sagittal craniosynostosis
8318	CDC45	HP:0003100	Slender long bone
8318	CDC45	HP:0034271	Copper beaten skull
8318	CDC45	HP:0030717	Meconium peritonitis
8318	CDC45	HP:0045074	Thin eyebrow
8318	CDC45	HP:0000278	Retrognathia
8318	CDC45	HP:0000260	Wide anterior fontanel
8318	CDC45	HP:0006443	Patellar aplasia
8318	CDC45	HP:0012227	Urethral stricture
8318	CDC45	HP:0000253	Progressive microcephaly
8318	CDC45	HP:0000252	Microcephaly
8318	CDC45	HP:0002878	Respiratory failure
8318	CDC45	HP:0000218	High palate
8318	CDC45	HP:0001545	Anteriorly placed anus
8318	CDC45	HP:0001508	Failure to thrive
8318	CDC45	HP:0001511	Intrauterine growth retardation
8318	CDC45	HP:0001510	Growth delay
8318	CDC45	HP:0006498	Aplasia/Hypoplasia of the patella
8318	CDC45	HP:0000365	Hearing impairment
8318	CDC45	HP:0000356	Abnormality of the outer ear
8318	CDC45	HP:0000358	Posteriorly rotated ears
8318	CDC45	HP:0000369	Low-set ears
8318	CDC45	HP:0001674	Complete atrioventricular canal defect
8318	CDC45	HP:0000347	Micrognathia
8318	CDC45	HP:0002979	Bowing of the legs
8318	CDC45	HP:0000327	Hypoplasia of the maxilla
8318	CDC45	HP:0001629	Ventricular septal defect
8318	CDC45	HP:0001631	Atrial septal defect
8318	CDC45	HP:0006660	Aplastic clavicle
8318	CDC45	HP:0000407	Sensorineural hearing impairment
8318	CDC45	HP:0000486	Strabismus
8318	CDC45	HP:0012471	Thick vermilion border
8318	CDC45	HP:0000453	Choanal atresia
8318	CDC45	HP:0000413	Atresia of the external auditory canal
8318	CDC45	HP:0011267	Microtia, third degree
8318	CDC45	HP:0000520	Proptosis
8318	CDC45	HP:0000545	Myopia
8320	EOMES	HP:0001274	Agenesis of corpus callosum
8320	EOMES	HP:0001321	Cerebellar hypoplasia
8320	EOMES	HP:0002719	Recurrent infections
8320	EOMES	HP:0002098	Respiratory distress
8320	EOMES	HP:0002119	Ventriculomegaly
8320	EOMES	HP:0002126	Polymicrogyria
8320	EOMES	HP:0011451	Primary microcephaly
8322	FZD4	HP:0001147	Retinal exudate
8322	FZD4	HP:0001141	Severely reduced visual acuity
8322	FZD4	HP:0001136	Retinal arteriolar tortuosity
8322	FZD4	HP:0001104	Macular hypoplasia
8322	FZD4	HP:0001103	Abnormal macular morphology
8322	FZD4	HP:0009926	Epiphora
8322	FZD4	HP:0009917	Persistent pupillary membrane
8322	FZD4	HP:0001270	Motor delay
8322	FZD4	HP:0100832	Vitreous floaters
8322	FZD4	HP:0001256	Intellectual disability, mild
8322	FZD4	HP:0000006	Autosomal dominant inheritance
8322	FZD4	HP:0001493	Falciform retinal fold
8322	FZD4	HP:0001489	Posterior vitreous detachment
8322	FZD4	HP:0007685	Peripheral retinal avascularization
8322	FZD4	HP:0007663	Reduced visual acuity
8322	FZD4	HP:0012109	Angle closure glaucoma
8322	FZD4	HP:0002757	Recurrent fractures
8322	FZD4	HP:0011885	Hemorrhage of the eye
8322	FZD4	HP:0003593	Infantile onset
8322	FZD4	HP:0003581	Adult onset
8322	FZD4	HP:0025007	Ectopic fovea
8322	FZD4	HP:0001004	Lymphedema
8322	FZD4	HP:0003677	Slowly progressive
8322	FZD4	HP:0010766	Ectopic calcification
8322	FZD4	HP:0030503	Macular telangiectasia
8322	FZD4	HP:0000646	Amblyopia
8322	FZD4	HP:0000618	Blindness
8322	FZD4	HP:0030490	Exudative vitreoretinopathy
8322	FZD4	HP:0030496	Macular exudate
8322	FZD4	HP:0011342	Mild global developmental delay
8322	FZD4	HP:0000667	Phthisis bulbi
8322	FZD4	HP:0030666	Retinal neovascularization
8322	FZD4	HP:0004349	Reduced bone mineral density
8322	FZD4	HP:0100014	Epiretinal membrane
8322	FZD4	HP:0012795	Abnormal optic disc morphology
8322	FZD4	HP:0030744	Hyaloid vascular remnant and retrolental mass
8322	FZD4	HP:0030743	Glial remnants anterior to the optic disc
8322	FZD4	HP:0011530	Retinal hole
8322	FZD4	HP:0040049	Macular edema
8322	FZD4	HP:0008052	Retinal fold
8322	FZD4	HP:0008046	Abnormal retinal vascular morphology
8322	FZD4	HP:0007773	Vitreoretinopathy
8322	FZD4	HP:0012230	Rhegmatogenous retinal detachment
8322	FZD4	HP:0000252	Microcephaly
8322	FZD4	HP:0001518	Small for gestational age
8322	FZD4	HP:0031526	Subretinal fluid
8322	FZD4	HP:0000365	Hearing impairment
8322	FZD4	HP:0001622	Premature birth
8322	FZD4	HP:0007957	Corneal opacity
8322	FZD4	HP:0007917	Tractional retinal detachment
8322	FZD4	HP:0007902	Vitreous hemorrhage
8322	FZD4	HP:0007968	Remnants of the hyaloid vascular system
8322	FZD4	HP:0000486	Strabismus
8322	FZD4	HP:0000482	Microcornea
8322	FZD4	HP:0000518	Cataract
8322	FZD4	HP:0000519	Developmental cataract
8322	FZD4	HP:0000523	Subcapsular cataract
8322	FZD4	HP:0000594	Shallow anterior chamber
8322	FZD4	HP:0000557	Buphthalmos
8322	FZD4	HP:0000555	Leukocoria
8322	FZD4	HP:0000568	Microphthalmia
8322	FZD4	HP:0000565	Esotropia
8322	FZD4	HP:0000541	Retinal detachment
8322	FZD4	HP:0000533	Chorioretinal atrophy
8323	FZD6	HP:0000007	Autosomal recessive inheritance
8323	FZD6	HP:0002164	Nail dysplasia
8323	FZD6	HP:0003577	Congenital onset
8323	FZD6	HP:0003677	Slowly progressive
8323	FZD6	HP:0030804	Trachyonychia
8323	FZD6	HP:0001805	Onychogryposis
8323	FZD6	HP:0001806	Onycholysis
8323	FZD6	HP:0012542	Onychauxis
8328	GFI1B	HP:0000007	Autosomal recessive inheritance
8328	GFI1B	HP:0000006	Autosomal dominant inheritance
8328	GFI1B	HP:0003337	Reduced prothrombin consumption
8328	GFI1B	HP:0008148	Impaired epinephrine-induced platelet aggregation
8328	GFI1B	HP:0011890	Prolonged bleeding following procedure
8328	GFI1B	HP:0003593	Infantile onset
8328	GFI1B	HP:0002239	Gastrointestinal hemorrhage
8328	GFI1B	HP:0011974	Myelofibrosis
8328	GFI1B	HP:0008320	Impaired collagen-induced platelet aggregation
8328	GFI1B	HP:0031965	Increased RBC distribution width
8328	GFI1B	HP:0003010	Prolonged bleeding time
8328	GFI1B	HP:0000978	Bruising susceptibility
8328	GFI1B	HP:0000967	Petechiae
8328	GFI1B	HP:0040185	Macrothrombocytopenia
8328	GFI1B	HP:0031364	Ecchymosis
8328	GFI1B	HP:0000421	Epistaxis
8328	GFI1B	HP:0001892	Abnormal bleeding
8328	GFI1B	HP:0012526	Absence of alpha granules
8328	GFI1B	HP:0001873	Thrombocytopenia
8363	H4C11	HP:0001252	Hypotonia
8363	H4C11	HP:0001249	Intellectual disability
8363	H4C11	HP:0001263	Global developmental delay
8363	H4C11	HP:0002553	Highly arched eyebrow
8363	H4C11	HP:0000047	Hypospadias
8363	H4C11	HP:0001344	Absent speech
8363	H4C11	HP:0000006	Autosomal dominant inheritance
8363	H4C11	HP:0000154	Wide mouth
8363	H4C11	HP:0002714	Downturned corners of mouth
8363	H4C11	HP:0003577	Congenital onset
8363	H4C11	HP:0000629	Periorbital fullness
8363	H4C11	HP:0000657	Oculomotor apraxia
8363	H4C11	HP:0004322	Short stature
8363	H4C11	HP:0000750	Delayed speech and language development
8363	H4C11	HP:0000729	Autistic behavior
8363	H4C11	HP:0003202	Skeletal muscle atrophy
8363	H4C11	HP:0001510	Growth delay
8363	H4C11	HP:0000316	Hypertelorism
8363	H4C11	HP:0000322	Short philtrum
8363	H4C11	HP:0005280	Depressed nasal bridge
8363	H4C11	HP:0001763	Pes planus
8363	H4C11	HP:0000582	Upslanted palpebral fissure
8363	H4C11	HP:0000565	Esotropia
8364	H4C3	HP:0001250	Seizure
8364	H4C3	HP:0001252	Hypotonia
8364	H4C3	HP:0001249	Intellectual disability
8364	H4C3	HP:0000089	Renal hypoplasia
8364	H4C3	HP:0001399	Hepatic failure
8364	H4C3	HP:0000006	Autosomal dominant inheritance
8364	H4C3	HP:0012165	Oligodactyly
8364	H4C3	HP:0000154	Wide mouth
8364	H4C3	HP:0040262	Glue ear
8364	H4C3	HP:0003577	Congenital onset
8364	H4C3	HP:0002205	Recurrent respiratory infections
8364	H4C3	HP:0011968	Feeding difficulties
8364	H4C3	HP:0020045	Esodeviation
8364	H4C3	HP:0004209	Clinodactyly of the 5th finger
8364	H4C3	HP:0005564	Absence of renal corticomedullary differentiation
8364	H4C3	HP:0000646	Amblyopia
8364	H4C3	HP:0000629	Periorbital fullness
8364	H4C3	HP:0034185	Median pseudocleft lip
8364	H4C3	HP:0012736	Profound global developmental delay
8364	H4C3	HP:0000709	Psychosis
8364	H4C3	HP:0000822	Hypertension
8364	H4C3	HP:0000965	Cutis marmorata
8364	H4C3	HP:0000278	Retrognathia
8364	H4C3	HP:0000252	Microcephaly
8364	H4C3	HP:0001558	Decreased fetal movement
8364	H4C3	HP:0001537	Umbilical hernia
8364	H4C3	HP:0001510	Growth delay
8364	H4C3	HP:0000384	Preauricular skin tag
8364	H4C3	HP:0000369	Low-set ears
8364	H4C3	HP:0001684	Secundum atrial septal defect
8364	H4C3	HP:0000316	Hypertelorism
8364	H4C3	HP:0031624	Moderate myopia
8364	H4C3	HP:0000403	Recurrent otitis media
8364	H4C3	HP:0000486	Strabismus
8364	H4C3	HP:0000455	Broad nasal tip
8364	H4C3	HP:0000456	Bifid nasal tip
8364	H4C3	HP:0001773	Short foot
8364	H4C3	HP:0000508	Ptosis
8364	H4C3	HP:0000582	Upslanted palpebral fissure
8367	H4C5	HP:0001182	Tapered finger
8367	H4C5	HP:0009928	Thick nasal alae
8367	H4C5	HP:0010877	Monocular strabismus
8367	H4C5	HP:0009890	High anterior hairline
8367	H4C5	HP:0003763	Bruxism
8367	H4C5	HP:0003764	Nevus
8367	H4C5	HP:0003758	Reduced subcutaneous adipose tissue
8367	H4C5	HP:0100807	Long fingers
8367	H4C5	HP:0001270	Motor delay
8367	H4C5	HP:0001250	Seizure
8367	H4C5	HP:0001252	Hypotonia
8367	H4C5	HP:0001251	Ataxia
8367	H4C5	HP:0001249	Intellectual disability
8367	H4C5	HP:0001264	Spastic diplegia
8367	H4C5	HP:0001263	Global developmental delay
8367	H4C5	HP:0001257	Spasticity
8367	H4C5	HP:0007392	Excessive wrinkled skin
8367	H4C5	HP:0007359	Focal-onset seizure
8367	H4C5	HP:0001212	Prominent fingertip pads
8367	H4C5	HP:0002510	Spastic tetraplegia
8367	H4C5	HP:0002509	Limb hypertonia
8367	H4C5	HP:0001382	Joint hypermobility
8367	H4C5	HP:0000053	Macroorchidism
8367	H4C5	HP:0001348	Brisk reflexes
8367	H4C5	HP:0001347	Hyperreflexia
8367	H4C5	HP:0007495	Prematurely aged appearance
8367	H4C5	HP:0001332	Dystonia
8367	H4C5	HP:0000006	Autosomal dominant inheritance
8367	H4C5	HP:0002650	Scoliosis
8367	H4C5	HP:0000185	Cleft soft palate
8367	H4C5	HP:0012171	Stereotypical hand wringing
8367	H4C5	HP:0000194	Open mouth
8367	H4C5	HP:0000175	Cleft palate
8367	H4C5	HP:0000154	Wide mouth
8367	H4C5	HP:0008947	Infantile muscular hypotonia
8367	H4C5	HP:0008936	Axial hypotonia
8367	H4C5	HP:0002705	High, narrow palate
8367	H4C5	HP:0500011	Moon facies
8367	H4C5	HP:0002719	Recurrent infections
8367	H4C5	HP:0002714	Downturned corners of mouth
8367	H4C5	HP:0002020	Gastroesophageal reflux
8367	H4C5	HP:0002002	Deep philtrum
8367	H4C5	HP:0003307	Hyperlordosis
8367	H4C5	HP:0002061	Lower limb spasticity
8367	H4C5	HP:0002057	Prominent glabella
8367	H4C5	HP:0002188	Delayed CNS myelination
8367	H4C5	HP:0003593	Infantile onset
8367	H4C5	HP:0100710	Impulsivity
8367	H4C5	HP:0002212	Curly hair
8367	H4C5	HP:0002205	Recurrent respiratory infections
8367	H4C5	HP:0007018	Attention deficit hyperactivity disorder
8367	H4C5	HP:0011968	Feeding difficulties
8367	H4C5	HP:0002360	Sleep disturbance
8367	H4C5	HP:0001028	Hemangioma
8367	H4C5	HP:0010761	Broad columella
8367	H4C5	HP:0000637	Long palpebral fissure
8367	H4C5	HP:0000629	Periorbital fullness
8367	H4C5	HP:0001954	Recurrent fever
8367	H4C5	HP:0011344	Severe global developmental delay
8367	H4C5	HP:0000691	Microdontia
8367	H4C5	HP:0000687	Widely spaced teeth
8367	H4C5	HP:0004322	Short stature
8367	H4C5	HP:0012745	Short palpebral fissure
8367	H4C5	HP:0100021	Cerebral palsy
8367	H4C5	HP:0000750	Delayed speech and language development
8367	H4C5	HP:0000742	Self-mutilation
8367	H4C5	HP:0000717	Autism
8367	H4C5	HP:0000713	Agitation
8367	H4C5	HP:0000826	Precocious puberty
8367	H4C5	HP:0010296	Ankyloglossia
8367	H4C5	HP:0000974	Hyperextensible skin
8367	H4C5	HP:0000957	Cafe-au-lait spot
8367	H4C5	HP:0000960	Sacral dimple
8367	H4C5	HP:0008081	Pes valgus
8367	H4C5	HP:0000286	Epicanthus
8367	H4C5	HP:0000280	Coarse facial features
8367	H4C5	HP:0000278	Retrognathia
8367	H4C5	HP:0025573	Mild myopia
8367	H4C5	HP:0000294	Low anterior hairline
8367	H4C5	HP:0000252	Microcephaly
8367	H4C5	HP:0000248	Brachycephaly
8367	H4C5	HP:0000219	Thin upper lip vermilion
8367	H4C5	HP:0002870	Obstructive sleep apnea
8367	H4C5	HP:0001508	Failure to thrive
8367	H4C5	HP:0030051	Tip-toe gait
8367	H4C5	HP:0001510	Growth delay
8367	H4C5	HP:0000384	Preauricular skin tag
8367	H4C5	HP:0000391	Thickened helices
8367	H4C5	HP:0005216	Impaired mastication
8367	H4C5	HP:0000365	Hearing impairment
8367	H4C5	HP:0000369	Low-set ears
8367	H4C5	HP:0000319	Smooth philtrum
8367	H4C5	HP:0000322	Short philtrum
8367	H4C5	HP:0000325	Triangular face
8367	H4C5	HP:0000303	Mandibular prognathia
8367	H4C5	HP:0031624	Moderate myopia
8367	H4C5	HP:0005338	Sparse lateral eyebrow
8367	H4C5	HP:0000403	Recurrent otitis media
8367	H4C5	HP:0000486	Strabismus
8367	H4C5	HP:0012471	Thick vermilion border
8367	H4C5	HP:0012472	Eclabion
8367	H4C5	HP:0000494	Downslanted palpebral fissures
8367	H4C5	HP:0000490	Deeply set eye
8367	H4C5	HP:0000463	Anteverted nares
8367	H4C5	HP:0012450	Chronic constipation
8367	H4C5	HP:0000455	Broad nasal tip
8367	H4C5	HP:0000470	Short neck
8367	H4C5	HP:0001763	Pes planus
8367	H4C5	HP:0000448	Prominent nose
8367	H4C5	HP:0000414	Bulbous nose
8367	H4C5	HP:0000431	Wide nasal bridge
8367	H4C5	HP:0031717	Alternating exotropia
8367	H4C5	HP:0000527	Long eyelashes
8367	H4C5	HP:0012583	Unilateral renal hypoplasia
8367	H4C5	HP:0000582	Upslanted palpebral fissure
8367	H4C5	HP:0011228	Horizontal eyebrow
8367	H4C5	HP:0000574	Thick eyebrow
8367	H4C5	HP:0000540	Hypermetropia
8379	MAD1L1	HP:0000006	Autosomal dominant inheritance
8379	MAD1L1	HP:0012125	Prostate cancer
8379	MAD1L1	HP:0001428	Somatic mutation
8382	NME5	HP:0000007	Autosomal recessive inheritance
8382	NME5	HP:0002110	Bronchiectasis
8382	NME5	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia
8382	NME5	HP:0006532	Recurrent pneumonia
8382	NME5	HP:0001696	Situs inversus totalis
8382	NME5	HP:0000403	Recurrent otitis media
8382	NME5	HP:0011108	Recurrent sinusitis
8398	PLA2G6	HP:0002483	Bulbar signs
8398	PLA2G6	HP:0002454	Eye of the tiger anomaly of globus pallidus
8398	PLA2G6	HP:0007256	Abnormal pyramidal sign
8398	PLA2G6	HP:0025262	Stiff hip
8398	PLA2G6	HP:0001290	Generalized hypotonia
8398	PLA2G6	HP:0001276	Hypertonia
8398	PLA2G6	HP:0001272	Cerebellar atrophy
8398	PLA2G6	HP:0001269	Hemiparesis
8398	PLA2G6	HP:0001268	Mental deterioration
8398	PLA2G6	HP:0001288	Gait disturbance
8398	PLA2G6	HP:0001285	Spastic tetraparesis
8398	PLA2G6	HP:0001284	Areflexia
8398	PLA2G6	HP:0001250	Seizure
8398	PLA2G6	HP:0001252	Hypotonia
8398	PLA2G6	HP:0001251	Ataxia
8398	PLA2G6	HP:0001249	Intellectual disability
8398	PLA2G6	HP:0001260	Dysarthria
8398	PLA2G6	HP:0001263	Global developmental delay
8398	PLA2G6	HP:0001257	Spasticity
8398	PLA2G6	HP:0007351	Upper limb postural tremor
8398	PLA2G6	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
8398	PLA2G6	HP:0002530	Axial dystonia
8398	PLA2G6	HP:0002529	Neuronal loss in central nervous system
8398	PLA2G6	HP:0002510	Spastic tetraplegia
8398	PLA2G6	HP:0002505	Loss of ambulation
8398	PLA2G6	HP:0002500	Abnormal cerebral white matter morphology
8398	PLA2G6	HP:0025387	Pill-rolling tremor
8398	PLA2G6	HP:0012043	Pendular nystagmus
8398	PLA2G6	HP:0001371	Flexion contracture
8398	PLA2G6	HP:0025331	Upgaze palsy
8398	PLA2G6	HP:0000017	Nocturia
8398	PLA2G6	HP:0001348	Brisk reflexes
8398	PLA2G6	HP:0001347	Hyperreflexia
8398	PLA2G6	HP:0001332	Dystonia
8398	PLA2G6	HP:0000007	Autosomal recessive inheritance
8398	PLA2G6	HP:0001337	Tremor
8398	PLA2G6	HP:0001336	Myoclonus
8398	PLA2G6	HP:0001310	Dysmetria
8398	PLA2G6	HP:0001300	Parkinsonism
8398	PLA2G6	HP:0025435	Increased circulating lactate dehydrogenase concentration
8398	PLA2G6	HP:0008936	Axial hypotonia
8398	PLA2G6	HP:0002019	Constipation
8398	PLA2G6	HP:0002015	Dysphagia
8398	PLA2G6	HP:0002007	Frontal bossing
8398	PLA2G6	HP:0005968	Temperature instability
8398	PLA2G6	HP:0003324	Generalized muscle weakness
8398	PLA2G6	HP:0005949	Apneic episodes in infancy
8398	PLA2G6	HP:0002080	Intention tremor
8398	PLA2G6	HP:0002067	Bradykinesia
8398	PLA2G6	HP:0002066	Gait ataxia
8398	PLA2G6	HP:0002063	Rigidity
8398	PLA2G6	HP:0002062	Morphological abnormality of the pyramidal tract
8398	PLA2G6	HP:0002075	Dysdiadochokinesis
8398	PLA2G6	HP:0002072	Chorea
8398	PLA2G6	HP:0002059	Cerebral atrophy
8398	PLA2G6	HP:0003477	Peripheral axonal neuropathy
8398	PLA2G6	HP:0002145	Frontotemporal dementia
8398	PLA2G6	HP:0003487	Babinski sign
8398	PLA2G6	HP:0003444	EMG: chronic denervation signs
8398	PLA2G6	HP:0003405	Diffuse axonal swelling
8398	PLA2G6	HP:0002185	Neurofibrillary tangles
8398	PLA2G6	HP:0002180	Neurodegeneration
8398	PLA2G6	HP:0002191	Progressive spasticity
8398	PLA2G6	HP:0002171	Gliosis
8398	PLA2G6	HP:0002172	Postural instability
8398	PLA2G6	HP:0010545	Downbeat nystagmus
8398	PLA2G6	HP:0010522	Dyslexia
8398	PLA2G6	HP:0100710	Impulsivity
8398	PLA2G6	HP:0002283	Global brain atrophy
8398	PLA2G6	HP:0011999	Paranoia
8398	PLA2G6	HP:0011968	Feeding difficulties
8398	PLA2G6	HP:0011951	Aspiration pneumonia
8398	PLA2G6	HP:0007058	Generalized cerebral atrophy/hypoplasia
8398	PLA2G6	HP:0002361	Psychomotor deterioration
8398	PLA2G6	HP:0002378	Hand tremor
8398	PLA2G6	HP:0002376	Developmental regression
8398	PLA2G6	HP:0003676	Progressive
8398	PLA2G6	HP:0003678	Rapidly progressive
8398	PLA2G6	HP:0002322	Resting tremor
8398	PLA2G6	HP:0002317	Unsteady gait
8398	PLA2G6	HP:0025097	Eyelid myoclonus
8398	PLA2G6	HP:0100660	Dyskinesia
8398	PLA2G6	HP:0009830	Peripheral neuropathy
8398	PLA2G6	HP:0007153	Progressive extrapyramidal movement disorder
8398	PLA2G6	HP:0007141	Sensorimotor neuropathy
8398	PLA2G6	HP:0002312	Clumsiness
8398	PLA2G6	HP:0002307	Drooling
8398	PLA2G6	HP:0003621	Juvenile onset
8398	PLA2G6	HP:0031833	Hypometric upward saccades
8398	PLA2G6	HP:0006892	Frontotemporal cerebral atrophy
8398	PLA2G6	HP:0000639	Nystagmus
8398	PLA2G6	HP:0000649	Abnormality of visual evoked potentials
8398	PLA2G6	HP:0000648	Optic atrophy
8398	PLA2G6	HP:0000618	Blindness
8398	PLA2G6	HP:0000605	Supranuclear gaze palsy
8398	PLA2G6	HP:0012698	Cerebellar gliosis
8398	PLA2G6	HP:0012675	Iron accumulation in brain
8398	PLA2G6	HP:0000658	Eyelid apraxia
8398	PLA2G6	HP:0004373	Focal dystonia
8398	PLA2G6	HP:0000752	Hyperactivity
8398	PLA2G6	HP:0000751	Personality changes
8398	PLA2G6	HP:0000762	Decreased nerve conduction velocity
8398	PLA2G6	HP:0000736	Short attention span
8398	PLA2G6	HP:0000735	Impaired social interactions
8398	PLA2G6	HP:0000750	Delayed speech and language development
8398	PLA2G6	HP:0000746	Delusions
8398	PLA2G6	HP:0000716	Depression
8398	PLA2G6	HP:0000718	Aggressive behavior
8398	PLA2G6	HP:0000712	Emotional lability
8398	PLA2G6	HP:0000729	Autistic behavior
8398	PLA2G6	HP:0000708	Atypical behavior
8398	PLA2G6	HP:0011468	Facial tics
8398	PLA2G6	HP:0011463	Childhood onset
8398	PLA2G6	HP:0011462	Young adult onset
8398	PLA2G6	HP:0011448	Ankle clonus
8398	PLA2G6	HP:0003196	Short nose
8398	PLA2G6	HP:0100315	Lewy bodies
8398	PLA2G6	HP:0003134	Abnormality of peripheral nerve conduction
8398	PLA2G6	HP:0040081	Abnormal circulating creatine kinase concentration
8398	PLA2G6	HP:0003236	Elevated circulating creatine kinase concentration
8398	PLA2G6	HP:0030842	Choking episodes
8398	PLA2G6	HP:0007772	Impaired smooth pursuit
8398	PLA2G6	HP:0031358	Vegetative state
8398	PLA2G6	HP:0000365	Hearing impairment
8398	PLA2G6	HP:0012332	Abnormal autonomic nervous system physiology
8398	PLA2G6	HP:0000338	Hypomimic face
8398	PLA2G6	HP:0000347	Micrognathia
8398	PLA2G6	HP:0000486	Strabismus
8398	PLA2G6	HP:0000511	Vertical supranuclear gaze palsy
8398	PLA2G6	HP:0011220	Prominent forehead
8398	PLA2G6	HP:0001884	Talipes calcaneovalgus
8398	PLA2G6	HP:0000572	Visual loss
8398	PLA2G6	HP:0000571	Hypometric saccades
8402	SLC25A11	HP:0008629	Pulsatile tinnitus
8402	SLC25A11	HP:0025269	Panic attack
8402	SLC25A11	HP:0001293	Cranial nerve compression
8402	SLC25A11	HP:0002574	Episodic abdominal pain
8402	SLC25A11	HP:0000096	Glomerular sclerosis
8402	SLC25A11	HP:0000093	Proteinuria
8402	SLC25A11	HP:0001342	Cerebral hemorrhage
8402	SLC25A11	HP:0002668	Paraganglioma
8402	SLC25A11	HP:0001337	Tremor
8402	SLC25A11	HP:0000006	Autosomal dominant inheritance
8402	SLC25A11	HP:0002640	Hypertension associated with pheochromocytoma
8402	SLC25A11	HP:0031284	Flushing
8402	SLC25A11	HP:0002018	Nausea
8402	SLC25A11	HP:0003334	Elevated circulating catecholamine level
8402	SLC25A11	HP:0003345	Elevated urinary norepinephrine
8402	SLC25A11	HP:0011703	Sinus tachycardia
8402	SLC25A11	HP:0010532	Paroxysmal vertigo
8402	SLC25A11	HP:0003574	Positive regitine blocking test
8402	SLC25A11	HP:0003528	Elevated calcitonin
8402	SLC25A11	HP:0009711	Retinal capillary hemangioma
8402	SLC25A11	HP:0100749	Chest pain
8402	SLC25A11	HP:0011979	Elevated urinary dopamine
8402	SLC25A11	HP:0001069	Episodic hyperhidrosis
8402	SLC25A11	HP:0002331	Recurrent paroxysmal headache
8402	SLC25A11	HP:0001095	Hypertensive retinopathy
8402	SLC25A11	HP:0003639	Elevated urinary epinephrine
8402	SLC25A11	HP:0005584	Renal cell carcinoma
8402	SLC25A11	HP:0001962	Palpitations
8402	SLC25A11	HP:0003072	Hypercalcemia
8402	SLC25A11	HP:0000740	Episodic paroxysmal anxiety
8402	SLC25A11	HP:0000790	Hematuria
8402	SLC25A11	HP:0000822	Hypertension
8402	SLC25A11	HP:0000980	Pallor
8402	SLC25A11	HP:0012222	Arachnoid hemangiomatosis
8402	SLC25A11	HP:0002864	Paraganglioma of head and neck
8402	SLC25A11	HP:0012378	Fatigue
8402	SLC25A11	HP:0001605	Vocal cord paralysis
8402	SLC25A11	HP:0001618	Dysphonia
8402	SLC25A11	HP:0001635	Congestive heart failure
8402	SLC25A11	HP:0000405	Conductive hearing impairment
8402	SLC25A11	HP:0006748	Adrenal pheochromocytoma
8402	SLC25A11	HP:0006737	Extraadrenal pheochromocytoma
8402	SLC25A11	HP:0000526	Aniridia
8402	SLC25A11	HP:0001824	Weight loss
8405	SPOP	HP:0001182	Tapered finger
8405	SPOP	HP:0009891	Underdeveloped supraorbital ridges
8405	SPOP	HP:0008551	Microtia
8405	SPOP	HP:0009879	Simplified gyral pattern
8405	SPOP	HP:0001276	Hypertonia
8405	SPOP	HP:0001270	Motor delay
8405	SPOP	HP:0001269	Hemiparesis
8405	SPOP	HP:0001250	Seizure
8405	SPOP	HP:0001249	Intellectual disability
8405	SPOP	HP:0001263	Global developmental delay
8405	SPOP	HP:0002553	Highly arched eyebrow
8405	SPOP	HP:0000076	Vesicoureteral reflux
8405	SPOP	HP:0008872	Feeding difficulties in infancy
8405	SPOP	HP:0001332	Dystonia
8405	SPOP	HP:0000003	Multicystic kidney dysplasia
8405	SPOP	HP:0000006	Autosomal dominant inheritance
8405	SPOP	HP:0001319	Neonatal hypotonia
8405	SPOP	HP:0002643	Neonatal respiratory distress
8405	SPOP	HP:0002744	Bilateral cleft lip and palate
8405	SPOP	HP:0002020	Gastroesophageal reflux
8405	SPOP	HP:0002003	Large forehead
8405	SPOP	HP:0002007	Frontal bossing
8405	SPOP	HP:0002076	Migraine
8405	SPOP	HP:0002072	Chorea
8405	SPOP	HP:0002057	Prominent glabella
8405	SPOP	HP:0010535	Sleep apnea
8405	SPOP	HP:0100716	Self-injurious behavior
8405	SPOP	HP:0004209	Clinodactyly of the 5th finger
8405	SPOP	HP:0000637	Long palpebral fissure
8405	SPOP	HP:0000609	Optic nerve hypoplasia
8405	SPOP	HP:0000664	Synophrys
8405	SPOP	HP:0004383	Hypoplastic left heart
8405	SPOP	HP:0031936	Delayed ability to walk
8405	SPOP	HP:0000750	Delayed speech and language development
8405	SPOP	HP:0011471	Gastrostomy tube feeding in infancy
8405	SPOP	HP:0011451	Primary microcephaly
8405	SPOP	HP:0003196	Short nose
8405	SPOP	HP:0000821	Hypothyroidism
8405	SPOP	HP:0045075	Sparse eyebrow
8405	SPOP	HP:0000960	Sacral dimple
8405	SPOP	HP:0045025	Narrow palpebral fissure
8405	SPOP	HP:0000286	Epicanthus
8405	SPOP	HP:0000294	Low anterior hairline
8405	SPOP	HP:0000248	Brachycephaly
8405	SPOP	HP:0000218	High palate
8405	SPOP	HP:0001561	Polyhydramnios
8405	SPOP	HP:0000233	Thin vermilion border
8405	SPOP	HP:0001531	Failure to thrive in infancy
8405	SPOP	HP:0000391	Thickened helices
8405	SPOP	HP:0006579	Prolonged neonatal jaundice
8405	SPOP	HP:0000365	Hearing impairment
8405	SPOP	HP:0000358	Posteriorly rotated ears
8405	SPOP	HP:0000369	Low-set ears
8405	SPOP	HP:0000341	Narrow forehead
8405	SPOP	HP:0000347	Micrognathia
8405	SPOP	HP:0000319	Smooth philtrum
8405	SPOP	HP:0000316	Hypertelorism
8405	SPOP	HP:0000325	Triangular face
8405	SPOP	HP:0000307	Pointed chin
8405	SPOP	HP:0005280	Depressed nasal bridge
8405	SPOP	HP:0000486	Strabismus
8405	SPOP	HP:0000494	Downslanted palpebral fissures
8405	SPOP	HP:0000490	Deeply set eye
8405	SPOP	HP:0000463	Anteverted nares
8405	SPOP	HP:0012450	Chronic constipation
8405	SPOP	HP:0000448	Prominent nose
8405	SPOP	HP:0000414	Bulbous nose
8405	SPOP	HP:0000411	Protruding ear
8405	SPOP	HP:0000426	Prominent nasal bridge
8405	SPOP	HP:0000527	Long eyelashes
8405	SPOP	HP:0000506	Telecanthus
8419	BFSP2	HP:0000006	Autosomal dominant inheritance
8419	BFSP2	HP:0007834	Progressive cataract
8419	BFSP2	HP:0000519	Developmental cataract
8419	BFSP2	HP:0000545	Myopia
8425	LTBP4	HP:0025194	Morgagni diaphragmatic hernia
8425	LTBP4	HP:0025193	Posterolateral diaphragmatic hernia
8425	LTBP4	HP:0003701	Proximal muscle weakness
8425	LTBP4	HP:0001270	Motor delay
8425	LTBP4	HP:0001252	Hypotonia
8425	LTBP4	HP:0001263	Global developmental delay
8425	LTBP4	HP:0002515	Waddling gait
8425	LTBP4	HP:0003819	Death in childhood
8425	LTBP4	HP:0001371	Flexion contracture
8425	LTBP4	HP:0001388	Joint laxity
8425	LTBP4	HP:0000023	Inguinal hernia
8425	LTBP4	HP:0001328	Specific learning disability
8425	LTBP4	HP:0000007	Autosomal recessive inheritance
8425	LTBP4	HP:0002650	Scoliosis
8425	LTBP4	HP:0002617	Vascular dilatation
8425	LTBP4	HP:0008981	Calf muscle hypertrophy
8425	LTBP4	HP:0002780	Bronchomalacia
8425	LTBP4	HP:0002779	Tracheomalacia
8425	LTBP4	HP:0000126	Hydronephrosis
8425	LTBP4	HP:0002021	Pyloric stenosis
8425	LTBP4	HP:0002020	Gastroesophageal reflux
8425	LTBP4	HP:0002035	Rectal prolapse
8425	LTBP4	HP:0003323	Progressive muscle weakness
8425	LTBP4	HP:0011800	Midface retrusion
8425	LTBP4	HP:0100539	Periorbital edema
8425	LTBP4	HP:0002089	Pulmonary hypoplasia
8425	LTBP4	HP:0100543	Cognitive impairment
8425	LTBP4	HP:0002097	Emphysema
8425	LTBP4	HP:0002093	Respiratory insufficiency
8425	LTBP4	HP:0003577	Congenital onset
8425	LTBP4	HP:0100750	Atelectasis
8425	LTBP4	HP:0011968	Feeding difficulties
8425	LTBP4	HP:0004969	Peripheral pulmonary artery stenosis
8425	LTBP4	HP:0012619	Multiple bladder diverticula
8425	LTBP4	HP:0000750	Delayed speech and language development
8425	LTBP4	HP:0000778	Hypoplasia of the thymus
8425	LTBP4	HP:0000835	Adrenal hypoplasia
8425	LTBP4	HP:0003236	Elevated circulating creatine kinase concentration
8425	LTBP4	HP:0003202	Skeletal muscle atrophy
8425	LTBP4	HP:0000973	Cutis laxa
8425	LTBP4	HP:0000954	Single transverse palmar crease
8425	LTBP4	HP:0000938	Osteopenia
8425	LTBP4	HP:0000278	Retrognathia
8425	LTBP4	HP:0000272	Malar flattening
8425	LTBP4	HP:0000268	Dolichocephaly
8425	LTBP4	HP:0000239	Large fontanelles
8425	LTBP4	HP:0001582	Redundant skin
8425	LTBP4	HP:0001522	Death in infancy
8425	LTBP4	HP:0001541	Ascites
8425	LTBP4	HP:0001537	Umbilical hernia
8425	LTBP4	HP:0001510	Growth delay
8425	LTBP4	HP:0006532	Recurrent pneumonia
8425	LTBP4	HP:0001601	Laryngomalacia
8425	LTBP4	HP:0001615	Hoarse cry
8425	LTBP4	HP:0000340	Sloping forehead
8425	LTBP4	HP:0000343	Long philtrum
8425	LTBP4	HP:0001667	Right ventricular hypertrophy
8425	LTBP4	HP:0000347	Micrognathia
8425	LTBP4	HP:0000316	Hypertelorism
8425	LTBP4	HP:0001655	Patent foramen ovale
8425	LTBP4	HP:0001623	Breech presentation
8425	LTBP4	HP:0001638	Cardiomyopathy
8425	LTBP4	HP:0005328	Progeroid facial appearance
8425	LTBP4	HP:0001747	Accessory spleen
8425	LTBP4	HP:0000431	Wide nasal bridge
8425	LTBP4	HP:0001852	Sandal gap
8431	NR0B2	HP:0010982	Polygenic inheritance
8431	NR0B2	HP:0000007	Autosomal recessive inheritance
8431	NR0B2	HP:0000006	Autosomal dominant inheritance
8431	NR0B2	HP:0031819	Increased waist to hip ratio
8431	NR0B2	HP:0001513	Obesity
8431	NR0B2	HP:0012340	Decreased resting energy expenditure
8438	RAD54L	HP:0002665	Lymphoma
8438	RAD54L	HP:0000006	Autosomal dominant inheritance
8438	RAD54L	HP:0001428	Somatic mutation
8438	RAD54L	HP:0003002	Breast carcinoma
8443	GNPAT	HP:0010920	Zonular cataract
8443	GNPAT	HP:0001290	Generalized hypotonia
8443	GNPAT	HP:0001252	Hypotonia
8443	GNPAT	HP:0001249	Intellectual disability
8443	GNPAT	HP:0001371	Flexion contracture
8443	GNPAT	HP:0000023	Inguinal hernia
8443	GNPAT	HP:0008838	Stippled calcification proximal humeral epiphyses
8443	GNPAT	HP:0000007	Autosomal recessive inheritance
8443	GNPAT	HP:0002650	Scoliosis
8443	GNPAT	HP:0002644	Abnormal pelvic girdle bone morphology
8443	GNPAT	HP:0008905	Rhizomelia
8443	GNPAT	HP:0000176	Submucous cleft hard palate
8443	GNPAT	HP:0003301	Irregular vertebral endplates
8443	GNPAT	HP:0011800	Midface retrusion
8443	GNPAT	HP:0003417	Coronal cleft vertebrae
8443	GNPAT	HP:0003498	Disproportionate short stature
8443	GNPAT	HP:0003577	Congenital onset
8443	GNPAT	HP:0010655	Epiphyseal stippling
8443	GNPAT	HP:0000609	Optic nerve hypoplasia
8443	GNPAT	HP:0005792	Short humerus
8443	GNPAT	HP:4000165	Decreased circulating plasmalogen concentration
8443	GNPAT	HP:0000938	Osteopenia
8443	GNPAT	HP:0000239	Large fontanelles
8443	GNPAT	HP:0000252	Microcephaly
8443	GNPAT	HP:0000218	High palate
8443	GNPAT	HP:0001508	Failure to thrive
8443	GNPAT	HP:0002832	Calcific stippling
8443	GNPAT	HP:0000348	High forehead
8443	GNPAT	HP:0000347	Micrognathia
8443	GNPAT	HP:0001636	Tetralogy of Fallot
8443	GNPAT	HP:0005280	Depressed nasal bridge
8443	GNPAT	HP:0000463	Anteverted nares
8443	GNPAT	HP:0000431	Wide nasal bridge
8443	GNPAT	HP:0000518	Cataract
8449	DHX16	HP:0020206	Simple ear
8449	DHX16	HP:0002421	Poor head control
8449	DHX16	HP:0003713	Muscle fiber necrosis
8449	DHX16	HP:0001290	Generalized hypotonia
8449	DHX16	HP:0001274	Agenesis of corpus callosum
8449	DHX16	HP:0001284	Areflexia
8449	DHX16	HP:0001249	Intellectual disability
8449	DHX16	HP:0001263	Global developmental delay
8449	DHX16	HP:0001239	Wrist flexion contracture
8449	DHX16	HP:0000006	Autosomal dominant inheritance
8449	DHX16	HP:0008981	Calf muscle hypertrophy
8449	DHX16	HP:0002098	Respiratory distress
8449	DHX16	HP:0002069	Bilateral tonic-clonic seizure
8449	DHX16	HP:0003390	Sensory axonal neuropathy
8449	DHX16	HP:0003458	EMG: myopathic abnormalities
8449	DHX16	HP:0007078	Decreased amplitude of sensory action potentials
8449	DHX16	HP:0002317	Unsteady gait
8449	DHX16	HP:0007165	Periventricular heterotopia
8449	DHX16	HP:0007182	Peripheral hypomyelination
8449	DHX16	HP:0005565	Reduced renal corticomedullary differentiation
8449	DHX16	HP:0005562	Multiple renal cysts
8449	DHX16	HP:0000762	Decreased nerve conduction velocity
8449	DHX16	HP:0003236	Elevated circulating creatine kinase concentration
8449	DHX16	HP:0000286	Epicanthus
8449	DHX16	HP:0006380	Knee flexion contracture
8449	DHX16	HP:0002835	Aspiration
8449	DHX16	HP:0007814	Retinal pigment epithelial mottling
8449	DHX16	HP:0007858	Chorioretinal lacunae
8449	DHX16	HP:0000358	Posteriorly rotated ears
8449	DHX16	HP:0000407	Sensorineural hearing impairment
8449	DHX16	HP:0012469	Infantile spasms
8449	DHX16	HP:0001762	Talipes equinovarus
8449	DHX16	HP:0000514	Slow saccadic eye movements
8450	CUL4B	HP:0001156	Brachydactyly
8450	CUL4B	HP:0010864	Intellectual disability, severe
8450	CUL4B	HP:0009879	Simplified gyral pattern
8450	CUL4B	HP:0001290	Generalized hypotonia
8450	CUL4B	HP:0001270	Motor delay
8450	CUL4B	HP:0001250	Seizure
8450	CUL4B	HP:0001252	Hypotonia
8450	CUL4B	HP:0001249	Intellectual disability
8450	CUL4B	HP:0008734	Decreased testicular size
8450	CUL4B	HP:0008736	Hypoplasia of penis
8450	CUL4B	HP:0002539	Cortical dysplasia
8450	CUL4B	HP:0002500	Abnormal cerebral white matter morphology
8450	CUL4B	HP:0000054	Micropenis
8450	CUL4B	HP:0001388	Joint laxity
8450	CUL4B	HP:0000047	Hypospadias
8450	CUL4B	HP:0000023	Inguinal hernia
8450	CUL4B	HP:0000028	Cryptorchidism
8450	CUL4B	HP:0001344	Absent speech
8450	CUL4B	HP:0001337	Tremor
8450	CUL4B	HP:0002650	Scoliosis
8450	CUL4B	HP:0000179	Thick lower lip vermilion
8450	CUL4B	HP:0000158	Macroglossia
8450	CUL4B	HP:0000135	Hypogonadism
8450	CUL4B	HP:0000154	Wide mouth
8450	CUL4B	HP:0008944	Distal lower limb amyotrophy
8450	CUL4B	HP:0001419	X-linked recessive inheritance
8450	CUL4B	HP:0002721	Immunodeficiency
8450	CUL4B	HP:0002066	Gait ataxia
8450	CUL4B	HP:0002079	Hypoplasia of the corpus callosum
8450	CUL4B	HP:0002119	Ventriculomegaly
8450	CUL4B	HP:0002136	Broad-based gait
8450	CUL4B	HP:0002126	Polymicrogyria
8450	CUL4B	HP:0002167	Abnormality of speech or vocalization
8450	CUL4B	HP:0100490	Camptodactyly of finger
8450	CUL4B	HP:0010720	Abnormal hair pattern
8450	CUL4B	HP:0001065	Striae distensae
8450	CUL4B	HP:0002342	Intellectual disability, moderate
8450	CUL4B	HP:0002353	EEG abnormality
8450	CUL4B	HP:0200021	Down-sloping shoulders
8450	CUL4B	HP:0010807	Open bite
8450	CUL4B	HP:0200055	Small hand
8450	CUL4B	HP:0004209	Clinodactyly of the 5th finger
8450	CUL4B	HP:0006855	Cerebellar vermis atrophy
8450	CUL4B	HP:0004279	Short palm
8450	CUL4B	HP:0000664	Synophrys
8450	CUL4B	HP:0004322	Short stature
8450	CUL4B	HP:0004326	Cachexia
8450	CUL4B	HP:0005692	Joint hyperflexibility
8450	CUL4B	HP:0012743	Abdominal obesity
8450	CUL4B	HP:0000752	Hyperactivity
8450	CUL4B	HP:0000771	Gynecomastia
8450	CUL4B	HP:0000750	Delayed speech and language development
8450	CUL4B	HP:0000718	Aggressive behavior
8450	CUL4B	HP:0000712	Emotional lability
8450	CUL4B	HP:0004422	Biparietal narrowing
8450	CUL4B	HP:0004482	Relative macrocephaly
8450	CUL4B	HP:0000823	Delayed puberty
8450	CUL4B	HP:0000975	Hyperhidrosis
8450	CUL4B	HP:0000956	Acanthosis nigricans
8450	CUL4B	HP:0000286	Epicanthus
8450	CUL4B	HP:0000280	Coarse facial features
8450	CUL4B	HP:0000256	Macrocephaly
8450	CUL4B	HP:0002808	Kyphosis
8450	CUL4B	HP:0000252	Microcephaly
8450	CUL4B	HP:0000218	High palate
8450	CUL4B	HP:0001513	Obesity
8450	CUL4B	HP:0000377	Abnormal pinna morphology
8450	CUL4B	HP:0000363	Abnormal earlobe morphology
8450	CUL4B	HP:0000348	High forehead
8450	CUL4B	HP:0000322	Short philtrum
8450	CUL4B	HP:0002967	Cubitus valgus
8450	CUL4B	HP:0000303	Mandibular prognathia
8450	CUL4B	HP:0005280	Depressed nasal bridge
8450	CUL4B	HP:0000494	Downslanted palpebral fissures
8450	CUL4B	HP:0000470	Short neck
8450	CUL4B	HP:0001770	Toe syndactyly
8450	CUL4B	HP:0001773	Short foot
8450	CUL4B	HP:0001763	Pes planus
8450	CUL4B	HP:0000448	Prominent nose
8450	CUL4B	HP:0000414	Bulbous nose
8450	CUL4B	HP:0001761	Pes cavus
8450	CUL4B	HP:0001852	Sandal gap
8450	CUL4B	HP:0000581	Blepharophimosis
8452	CUL3	HP:0010864	Intellectual disability, severe
8452	CUL3	HP:0010851	EEG with burst suppression
8452	CUL3	HP:0001270	Motor delay
8452	CUL3	HP:0001256	Intellectual disability, mild
8452	CUL3	HP:0001250	Seizure
8452	CUL3	HP:0002521	Hypsarrhythmia
8452	CUL3	HP:0025336	Delayed ability to sit
8452	CUL3	HP:0000006	Autosomal dominant inheritance
8452	CUL3	HP:0000193	Bifid uvula
8452	CUL3	HP:0000176	Submucous cleft hard palate
8452	CUL3	HP:0002153	Hyperkalemia
8452	CUL3	HP:0002188	Delayed CNS myelination
8452	CUL3	HP:0008242	Pseudohypoaldosteronism
8452	CUL3	HP:0003593	Infantile onset
8452	CUL3	HP:0011968	Feeding difficulties
8452	CUL3	HP:0009777	Absent thumb
8452	CUL3	HP:0004918	Hyperchloremic metabolic acidosis
8452	CUL3	HP:0001942	Metabolic acidosis
8452	CUL3	HP:0031936	Delayed ability to walk
8452	CUL3	HP:0000752	Hyperactivity
8452	CUL3	HP:0000750	Delayed speech and language development
8452	CUL3	HP:0000729	Autistic behavior
8452	CUL3	HP:0011423	Hyperchloremia
8452	CUL3	HP:0000822	Hypertension
8452	CUL3	HP:0000252	Microcephaly
8452	CUL3	HP:0001508	Failure to thrive
8452	CUL3	HP:0032792	Tonic seizure
8452	CUL3	HP:0001642	Pulmonic stenosis
8452	CUL3	HP:0001631	Atrial septal defect
8452	CUL3	HP:0012469	Infantile spasms
8456	FOXN1	HP:0000007	Autosomal recessive inheritance
8456	FOXN1	HP:0000006	Autosomal dominant inheritance
8456	FOXN1	HP:0002788	Recurrent upper respiratory tract infections
8456	FOXN1	HP:0002721	Immunodeficiency
8456	FOXN1	HP:0002090	Pneumonia
8456	FOXN1	HP:0008165	Decreased helper T cell proportion
8456	FOXN1	HP:0008404	Nail dystrophy
8456	FOXN1	HP:0001047	Atopic dermatitis
8456	FOXN1	HP:0005597	Congenital alopecia totalis
8456	FOXN1	HP:0001596	Alopecia
8456	FOXN1	HP:0005352	Severe T-cell immunodeficiency
8456	FOXN1	HP:0031545	Abnormally low T cell receptor excision circle level
8456	FOXN1	HP:0005403	T lymphocytopenia
8456	FOXN1	HP:0001807	Ridged nail
8456	FOXN1	HP:0001803	Nail pits
8462	KLF11	HP:0002594	Pancreatic hypoplasia
8462	KLF11	HP:0000077	Abnormality of the kidney
8462	KLF11	HP:0012028	Hepatocellular adenoma
8462	KLF11	HP:0000006	Autosomal dominant inheritance
8462	KLF11	HP:0000119	Abnormality of the genitourinary system
8462	KLF11	HP:0000112	Nephropathy
8462	KLF11	HP:0000107	Renal cyst
8462	KLF11	HP:0005978	Type II diabetes mellitus
8462	KLF11	HP:0008255	Transient neonatal diabetes mellitus
8462	KLF11	HP:0004924	Abnormal oral glucose tolerance
8462	KLF11	HP:0004904	Maturity-onset diabetes of the young
8462	KLF11	HP:0001953	Diabetic ketoacidosis
8462	KLF11	HP:0001952	Glucose intolerance
8462	KLF11	HP:0001998	Neonatal hypoglycemia
8462	KLF11	HP:0003076	Glycosuria
8462	KLF11	HP:0003074	Hyperglycemia
8462	KLF11	HP:0030794	Abnormal circulating C-peptide concentration
8462	KLF11	HP:0000831	Insulin-resistant diabetes mellitus
8462	KLF11	HP:0000825	Hyperinsulinemic hypoglycemia
8462	KLF11	HP:0040214	Abnormal circulating insulin concentration
8462	KLF11	HP:0040217	Elevated hemoglobin A1c
8462	KLF11	HP:0040216	Hypoinsulinemia
8462	KLF11	HP:0000956	Acanthosis nigricans
8462	KLF11	HP:0030057	Autoimmune antibody positivity
8462	KLF11	HP:0025502	Overweight
8462	KLF11	HP:0001520	Large for gestational age
8462	KLF11	HP:0001511	Intrauterine growth retardation
8462	KLF11	HP:0001513	Obesity
8462	KLF11	HP:0001738	Exocrine pancreatic insufficiency
8462	KLF11	HP:0000488	Retinopathy
8468	FKBP6	HP:0001181	Adducted thumb
8468	FKBP6	HP:0001136	Retinal arteriolar tortuosity
8468	FKBP6	HP:0010880	Increased nuchal translucency
8468	FKBP6	HP:0001297	Stroke
8468	FKBP6	HP:0100817	Renovascular hypertension
8468	FKBP6	HP:0001288	Gait disturbance
8468	FKBP6	HP:0001252	Hypotonia
8468	FKBP6	HP:0001251	Ataxia
8468	FKBP6	HP:0001249	Intellectual disability
8468	FKBP6	HP:0001260	Dysarthria
8468	FKBP6	HP:0001257	Spasticity
8468	FKBP6	HP:0001231	Abnormal fingernail morphology
8468	FKBP6	HP:0002575	Tracheoesophageal fistula
8468	FKBP6	HP:0008736	Hypoplasia of penis
8468	FKBP6	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
8468	FKBP6	HP:0008661	Urethral stenosis
8468	FKBP6	HP:0000089	Renal hypoplasia
8468	FKBP6	HP:0000083	Renal insufficiency
8468	FKBP6	HP:0000093	Proteinuria
8468	FKBP6	HP:0000076	Vesicoureteral reflux
8468	FKBP6	HP:0000075	Renal duplication
8468	FKBP6	HP:0000044	Hypogonadotropic hypogonadism
8468	FKBP6	HP:0001388	Joint laxity
8468	FKBP6	HP:0001387	Joint stiffness
8468	FKBP6	HP:0000023	Inguinal hernia
8468	FKBP6	HP:0000015	Bladder diverticulum
8468	FKBP6	HP:0000014	Abnormality of the bladder
8468	FKBP6	HP:0001347	Hyperreflexia
8468	FKBP6	HP:0001361	Nystagmus-induced head nodding
8468	FKBP6	HP:0000025	Functional abnormality of male internal genitalia
8468	FKBP6	HP:0000028	Cryptorchidism
8468	FKBP6	HP:0000027	Azoospermia
8468	FKBP6	HP:0007495	Prematurely aged appearance
8468	FKBP6	HP:0007477	Abnormal dermatoglyphics
8468	FKBP6	HP:0000010	Recurrent urinary tract infections
8468	FKBP6	HP:0000007	Autosomal recessive inheritance
8468	FKBP6	HP:0001337	Tremor
8468	FKBP6	HP:0001310	Dysmetria
8468	FKBP6	HP:0002637	Cerebral ischemia
8468	FKBP6	HP:0002650	Scoliosis
8468	FKBP6	HP:0002644	Abnormal pelvic girdle bone morphology
8468	FKBP6	HP:0002623	Overriding aorta
8468	FKBP6	HP:0000179	Thick lower lip vermilion
8468	FKBP6	HP:0000158	Macroglossia
8468	FKBP6	HP:0000154	Wide mouth
8468	FKBP6	HP:0000147	Polycystic ovaries
8468	FKBP6	HP:0000121	Nephrocalcinosis
8468	FKBP6	HP:0000125	Pelvic kidney
8468	FKBP6	HP:0002750	Delayed skeletal maturation
8468	FKBP6	HP:0002024	Malabsorption
8468	FKBP6	HP:0002020	Gastroesophageal reflux
8468	FKBP6	HP:0002019	Constipation
8468	FKBP6	HP:0002017	Nausea and vomiting
8468	FKBP6	HP:0002035	Rectal prolapse
8468	FKBP6	HP:0002027	Abdominal pain
8468	FKBP6	HP:0003312	Abnormal form of the vertebral bodies
8468	FKBP6	HP:0003307	Hyperlordosis
8468	FKBP6	HP:0005978	Type II diabetes mellitus
8468	FKBP6	HP:0100539	Periorbital edema
8468	FKBP6	HP:0100545	Arterial stenosis
8468	FKBP6	HP:0002071	Abnormality of extrapyramidal motor function
8468	FKBP6	HP:0002141	Gait imbalance
8468	FKBP6	HP:0002150	Hypercalciuria
8468	FKBP6	HP:0002120	Cerebral cortical atrophy
8468	FKBP6	HP:0003422	Vertebral segmentation defect
8468	FKBP6	HP:0002183	Phonophobia
8468	FKBP6	HP:0002167	Abnormality of speech or vocalization
8468	FKBP6	HP:0008232	Elevated circulating follicle stimulating hormone level
8468	FKBP6	HP:0010526	Dysgraphia
8468	FKBP6	HP:0002253	Colonic diverticula
8468	FKBP6	HP:0002205	Recurrent respiratory infections
8468	FKBP6	HP:0100785	Insomnia
8468	FKBP6	HP:0010662	Abnormality of the diencephalon
8468	FKBP6	HP:0010669	Hypoplasia of the zygomatic bone
8468	FKBP6	HP:0007018	Attention deficit hyperactivity disorder
8468	FKBP6	HP:0001052	Nevus flammeus
8468	FKBP6	HP:0002376	Developmental regression
8468	FKBP6	HP:0200021	Down-sloping shoulders
8468	FKBP6	HP:0100659	Abnormal cerebral vascular morphology
8468	FKBP6	HP:0010807	Open bite
8468	FKBP6	HP:0100613	Death in early adulthood
8468	FKBP6	HP:0001081	Cholelithiasis
8468	FKBP6	HP:0008499	High hypermetropia
8468	FKBP6	HP:0010780	Hyperacusis
8468	FKBP6	HP:0002308	Chiari malformation
8468	FKBP6	HP:0004969	Peripheral pulmonary artery stenosis
8468	FKBP6	HP:0004209	Clinodactyly of the 5th finger
8468	FKBP6	HP:0004295	Abnormal gastric mucosa morphology
8468	FKBP6	HP:0005562	Multiple renal cysts
8468	FKBP6	HP:0001969	Abnormal tubulointerstitial morphology
8468	FKBP6	HP:0000635	Blue irides
8468	FKBP6	HP:0000632	Lacrimation abnormality
8468	FKBP6	HP:0000627	Posterior embryotoxon
8468	FKBP6	HP:0000682	Abnormal dental enamel morphology
8468	FKBP6	HP:0000691	Microdontia
8468	FKBP6	HP:0000689	Dental malocclusion
8468	FKBP6	HP:0000670	Carious teeth
8468	FKBP6	HP:0012639	Abnormal nervous system morphology
8468	FKBP6	HP:0000668	Hypodontia
8468	FKBP6	HP:0004322	Short stature
8468	FKBP6	HP:0004306	Abnormal endocardium morphology
8468	FKBP6	HP:0004305	Involuntary movements
8468	FKBP6	HP:0003072	Hypercalcemia
8468	FKBP6	HP:0004381	Supravalvular aortic stenosis
8468	FKBP6	HP:0004398	Peptic ulcer
8468	FKBP6	HP:0005692	Joint hyperflexibility
8468	FKBP6	HP:0003028	Abnormality of the ankle
8468	FKBP6	HP:0100025	Overfriendliness
8468	FKBP6	HP:0000767	Pectus excavatum
8468	FKBP6	HP:0000739	Anxiety
8468	FKBP6	HP:0000716	Depression
8468	FKBP6	HP:0000717	Autism
8468	FKBP6	HP:0000722	Compulsive behaviors
8468	FKBP6	HP:0011462	Young adult onset
8468	FKBP6	HP:0000798	Oligospermia
8468	FKBP6	HP:0000787	Nephrolithiasis
8468	FKBP6	HP:0003119	Abnormal circulating lipid concentration
8468	FKBP6	HP:0004428	Elfin facies
8468	FKBP6	HP:0003198	Myopathy
8468	FKBP6	HP:0003196	Short nose
8468	FKBP6	HP:0000826	Precocious puberty
8468	FKBP6	HP:0000822	Hypertension
8468	FKBP6	HP:0000821	Hypothyroidism
8468	FKBP6	HP:0003236	Elevated circulating creatine kinase concentration
8468	FKBP6	HP:0003298	Spina bifida occulta
8468	FKBP6	HP:0003251	Male infertility
8468	FKBP6	HP:0034309	Multiflagellar spermatozoa
8468	FKBP6	HP:0000960	Sacral dimple
8468	FKBP6	HP:0000939	Osteoporosis
8468	FKBP6	HP:0000938	Osteopenia
8468	FKBP6	HP:0100240	Synostosis of joints
8468	FKBP6	HP:0008053	Aplasia/Hypoplasia of the iris
8468	FKBP6	HP:0007720	Flat cornea
8468	FKBP6	HP:0000286	Epicanthus
8468	FKBP6	HP:0000280	Coarse facial features
8468	FKBP6	HP:0000275	Narrow face
8468	FKBP6	HP:0005113	Aortic arch aneurysm
8468	FKBP6	HP:0002829	Arthralgia
8468	FKBP6	HP:0030087	Abnormal circulating testosterone concentration
8468	FKBP6	HP:0002808	Kyphosis
8468	FKBP6	HP:0000252	Microcephaly
8468	FKBP6	HP:0001582	Redundant skin
8468	FKBP6	HP:0000212	Gingival overgrowth
8468	FKBP6	HP:0000232	Everted lower lip vermilion
8468	FKBP6	HP:0001531	Failure to thrive in infancy
8468	FKBP6	HP:0002857	Genu valgum
8468	FKBP6	HP:0001537	Umbilical hernia
8468	FKBP6	HP:0001513	Obesity
8468	FKBP6	HP:0000389	Chronic otitis media
8468	FKBP6	HP:0001609	Hoarse voice
8468	FKBP6	HP:0001608	Abnormality of the voice
8468	FKBP6	HP:0001618	Dysphonia
8468	FKBP6	HP:0006482	Abnormality of dental morphology
8468	FKBP6	HP:0000368	Low-set, posteriorly rotated ears
8468	FKBP6	HP:0001671	Abnormal cardiac septum morphology
8468	FKBP6	HP:0000343	Long philtrum
8468	FKBP6	HP:0011001	Increased bone mineral density
8468	FKBP6	HP:0000337	Broad forehead
8468	FKBP6	HP:0002999	Patellar dislocation
8468	FKBP6	HP:0000348	High forehead
8468	FKBP6	HP:0000347	Micrognathia
8468	FKBP6	HP:0001647	Bicuspid aortic valve
8468	FKBP6	HP:0001643	Patent ductus arteriosus
8468	FKBP6	HP:0001642	Pulmonic stenosis
8468	FKBP6	HP:0001645	Sudden cardiac death
8468	FKBP6	HP:0002974	Radioulnar synostosis
8468	FKBP6	HP:0001658	Myocardial infarction
8468	FKBP6	HP:0001653	Mitral regurgitation
8468	FKBP6	HP:0001629	Ventricular septal defect
8468	FKBP6	HP:0001626	Abnormality of the cardiovascular system
8468	FKBP6	HP:0001640	Cardiomegaly
8468	FKBP6	HP:0001639	Hypertrophic cardiomyopathy
8468	FKBP6	HP:0001636	Tetralogy of Fallot
8468	FKBP6	HP:0001635	Congestive heart failure
8468	FKBP6	HP:0000307	Pointed chin
8468	FKBP6	HP:0001631	Atrial septal defect
8468	FKBP6	HP:0001634	Mitral valve prolapse
8468	FKBP6	HP:0007957	Corneal opacity
8468	FKBP6	HP:0005344	Abnormal carotid artery morphology
8468	FKBP6	HP:0000407	Sensorineural hearing impairment
8468	FKBP6	HP:0000400	Macrotia
8468	FKBP6	HP:0000486	Strabismus
8468	FKBP6	HP:0000485	Megalocornea
8468	FKBP6	HP:0000464	Abnormality of the neck
8468	FKBP6	HP:0012433	Abnormal social behavior
8468	FKBP6	HP:0001763	Pes planus
8468	FKBP6	HP:0000411	Protruding ear
8468	FKBP6	HP:0000431	Wide nasal bridge
8468	FKBP6	HP:0000518	Cataract
8468	FKBP6	HP:0001822	Hallux valgus
8468	FKBP6	HP:0000505	Visual impairment
8468	FKBP6	HP:0000501	Glaucoma
8468	FKBP6	HP:0001800	Hypoplastic toenails
8468	FKBP6	HP:0030345	Abnormal circulating luteinizing hormone concentration
8468	FKBP6	HP:0000581	Blepharophimosis
8468	FKBP6	HP:0000545	Myopia
8471	IRS4	HP:0001419	X-linked recessive inheritance
8471	IRS4	HP:0005990	Thyroid hypoplasia
8471	IRS4	HP:0011787	Central hypothyroidism
8471	IRS4	HP:0003623	Neonatal onset
8471	IRS4	HP:0004322	Short stature
8471	IRS4	HP:0033075	Inappropriately normal thyroid-stimulating hormone level
8471	IRS4	HP:0033078	Decreased circulating free T4 concentration
8473	OGT	HP:0001249	Intellectual disability
8473	OGT	HP:0001263	Global developmental delay
8473	OGT	HP:0008734	Decreased testicular size
8473	OGT	HP:0000047	Hypospadias
8473	OGT	HP:0000028	Cryptorchidism
8473	OGT	HP:0000194	Open mouth
8473	OGT	HP:0001419	X-linked recessive inheritance
8473	OGT	HP:0002236	Frontal upsweep of hair
8473	OGT	HP:0008499	High hypermetropia
8473	OGT	HP:0004209	Clinodactyly of the 5th finger
8473	OGT	HP:0000639	Nystagmus
8473	OGT	HP:0000646	Amblyopia
8473	OGT	HP:0000664	Synophrys
8473	OGT	HP:0030084	Clinodactyly
8473	OGT	HP:0000252	Microcephaly
8473	OGT	HP:0000219	Thin upper lip vermilion
8473	OGT	HP:0000369	Low-set ears
8473	OGT	HP:0001647	Bicuspid aortic valve
8473	OGT	HP:0000316	Hypertelorism
8473	OGT	HP:0012471	Thick vermilion border
8481	OFD1	HP:0001177	Preaxial hand polydactyly
8481	OFD1	HP:0001156	Brachydactyly
8481	OFD1	HP:0001162	Postaxial hand polydactyly
8481	OFD1	HP:0001161	Hand polydactyly
8481	OFD1	HP:0001159	Syndactyly
8481	OFD1	HP:0001133	Constriction of peripheral visual field
8481	OFD1	HP:0002475	Myelomeningocele
8481	OFD1	HP:0001141	Severely reduced visual acuity
8481	OFD1	HP:0002444	Hypothalamic hamartoma
8481	OFD1	HP:0025177	Peribronchovascular interstitial thickening
8481	OFD1	HP:0010864	Intellectual disability, severe
8481	OFD1	HP:0002419	Molar tooth sign on MRI
8481	OFD1	HP:0001290	Generalized hypotonia
8481	OFD1	HP:0001274	Agenesis of corpus callosum
8481	OFD1	HP:0001288	Gait disturbance
8481	OFD1	HP:0001250	Seizure
8481	OFD1	HP:0001252	Hypotonia
8481	OFD1	HP:0001251	Ataxia
8481	OFD1	HP:0001249	Intellectual disability
8481	OFD1	HP:0001263	Global developmental delay
8481	OFD1	HP:0002566	Intestinal malrotation
8481	OFD1	HP:0006101	Finger syndactyly
8481	OFD1	HP:0008736	Hypoplasia of penis
8481	OFD1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
8481	OFD1	HP:0008689	Bilateral cryptorchidism
8481	OFD1	HP:0008678	Renal hypoplasia/aplasia
8481	OFD1	HP:0002536	Abnormal cortical gyration
8481	OFD1	HP:0002553	Highly arched eyebrow
8481	OFD1	HP:0001217	Clubbing
8481	OFD1	HP:0000083	Renal insufficiency
8481	OFD1	HP:0000093	Proteinuria
8481	OFD1	HP:0001395	Hepatic fibrosis
8481	OFD1	HP:0000023	Inguinal hernia
8481	OFD1	HP:0001347	Hyperreflexia
8481	OFD1	HP:0000035	Abnormal testis morphology
8481	OFD1	HP:0008872	Feeding difficulties in infancy
8481	OFD1	HP:0006145	Central Y-shaped metacarpal
8481	OFD1	HP:0001332	Dystonia
8481	OFD1	HP:0000003	Multicystic kidney dysplasia
8481	OFD1	HP:0001337	Tremor
8481	OFD1	HP:0001305	Dandy-Walker malformation
8481	OFD1	HP:0001320	Cerebellar vermis hypoplasia
8481	OFD1	HP:0002643	Neonatal respiratory distress
8481	OFD1	HP:0002617	Vascular dilatation
8481	OFD1	HP:0000187	Broad alveolar ridges
8481	OFD1	HP:0000180	Lobulated tongue
8481	OFD1	HP:0000199	Tongue nodules
8481	OFD1	HP:0000190	Abnormal oral frenulum morphology
8481	OFD1	HP:0000191	Accessory oral frenulum
8481	OFD1	HP:0000164	Abnormality of the dentition
8481	OFD1	HP:0000161	Median cleft lip
8481	OFD1	HP:0000175	Cleft palate
8481	OFD1	HP:0000135	Hypogonadism
8481	OFD1	HP:0000138	Ovarian cyst
8481	OFD1	HP:0007675	Progressive night blindness
8481	OFD1	HP:0006349	Agenesis of permanent teeth
8481	OFD1	HP:0006297	Enamel hypoplasia
8481	OFD1	HP:0002783	Recurrent lower respiratory tract infections
8481	OFD1	HP:0000119	Abnormality of the genitourinary system
8481	OFD1	HP:0000113	Polycystic kidney dysplasia
8481	OFD1	HP:0002788	Recurrent upper respiratory tract infections
8481	OFD1	HP:0000126	Hydronephrosis
8481	OFD1	HP:0001423	X-linked dominant inheritance
8481	OFD1	HP:0032543	Lithoptysis
8481	OFD1	HP:0000104	Renal agenesis
8481	OFD1	HP:0001407	Hepatic cysts
8481	OFD1	HP:0001419	X-linked recessive inheritance
8481	OFD1	HP:0031245	Productive cough
8481	OFD1	HP:0002719	Recurrent infections
8481	OFD1	HP:0002002	Deep philtrum
8481	OFD1	HP:0002011	Morphological central nervous system abnormality
8481	OFD1	HP:0002007	Frontal bossing
8481	OFD1	HP:0005978	Type II diabetes mellitus
8481	OFD1	HP:0011802	Hamartoma of tongue
8481	OFD1	HP:0002059	Cerebral atrophy
8481	OFD1	HP:0010442	Polydactyly
8481	OFD1	HP:0009466	Radial deviation of finger
8481	OFD1	HP:0100582	Nasal polyposis
8481	OFD1	HP:0002119	Ventriculomegaly
8481	OFD1	HP:0002132	Porencephalic cyst
8481	OFD1	HP:0002110	Bronchiectasis
8481	OFD1	HP:0002104	Apnea
8481	OFD1	HP:0002187	Intellectual disability, profound
8481	OFD1	HP:0008222	Female infertility
8481	OFD1	HP:0010579	Cone-shaped epiphysis
8481	OFD1	HP:0003593	Infantile onset
8481	OFD1	HP:0002269	Abnormality of neuronal migration
8481	OFD1	HP:0003577	Congenital onset
8481	OFD1	HP:0100702	Arachnoid cyst
8481	OFD1	HP:0002257	Chronic rhinitis
8481	OFD1	HP:0002208	Coarse hair
8481	OFD1	HP:0002205	Recurrent respiratory infections
8481	OFD1	HP:0002282	Gray matter heterotopia
8481	OFD1	HP:0002280	Enlarged cisterna magna
8481	OFD1	HP:0100750	Atelectasis
8481	OFD1	HP:0002299	Brittle hair
8481	OFD1	HP:0007036	Hypoplasia of olfactory tract
8481	OFD1	HP:0008368	Tarsal synostosis
8481	OFD1	HP:0032016	Abnormal sputum
8481	OFD1	HP:0010669	Hypoplasia of the zygomatic bone
8481	OFD1	HP:0011947	Respiratory tract infection
8481	OFD1	HP:0001056	Milia
8481	OFD1	HP:0001007	Hirsutism
8481	OFD1	HP:0002350	Cerebellar cyst
8481	OFD1	HP:0010807	Open bite
8481	OFD1	HP:0100612	Odontogenic neoplasm
8481	OFD1	HP:0010772	Anomalous pulmonary venous return
8481	OFD1	HP:0003621	Juvenile onset
8481	OFD1	HP:0004209	Clinodactyly of the 5th finger
8481	OFD1	HP:0009085	Alveolar ridge overgrowth
8481	OFD1	HP:0009084	Midline notch of upper alveolar ridge
8481	OFD1	HP:0000639	Nystagmus
8481	OFD1	HP:0000648	Optic atrophy
8481	OFD1	HP:0000618	Blindness
8481	OFD1	HP:0000613	Photophobia
8481	OFD1	HP:0000602	Ophthalmoplegia
8481	OFD1	HP:0011359	Dry hair
8481	OFD1	HP:0000682	Abnormal dental enamel morphology
8481	OFD1	HP:0000670	Carious teeth
8481	OFD1	HP:0011304	Broad thumb
8481	OFD1	HP:0000668	Hypodontia
8481	OFD1	HP:0004322	Short stature
8481	OFD1	HP:0030680	Abnormality of cardiovascular system morphology
8481	OFD1	HP:0004349	Reduced bone mineral density
8481	OFD1	HP:0000750	Delayed speech and language development
8481	OFD1	HP:0011463	Childhood onset
8481	OFD1	HP:0004422	Biparietal narrowing
8481	OFD1	HP:0000929	Abnormal skull morphology
8481	OFD1	HP:0000924	Abnormality of the skeletal system
8481	OFD1	HP:0011539	Atrial situs ambiguous
8481	OFD1	HP:0011535	Abnormal atrial arrangement
8481	OFD1	HP:0000842	Hyperinsulinemia
8481	OFD1	HP:0000822	Hypertension
8481	OFD1	HP:0010297	Bifid tongue
8481	OFD1	HP:0010296	Ankyloglossia
8481	OFD1	HP:0040019	Finger clinodactyly
8481	OFD1	HP:0030828	Wheezing
8481	OFD1	HP:0030825	Absent foveal reflex
8481	OFD1	HP:0003251	Male infertility
8481	OFD1	HP:0100260	Mesoaxial polydactyly
8481	OFD1	HP:0100267	Lip pit
8481	OFD1	HP:0100259	Postaxial polydactyly
8481	OFD1	HP:0100258	Preaxial polydactyly
8481	OFD1	HP:0000987	Atypical scarring of skin
8481	OFD1	HP:0011617	Pulmonary situs ambiguus
8481	OFD1	HP:0000958	Dry skin
8481	OFD1	HP:0008070	Sparse hair
8481	OFD1	HP:0009381	Short finger
8481	OFD1	HP:0008046	Abnormal retinal vascular morphology
8481	OFD1	HP:0007722	Retinal pigment epithelial atrophy
8481	OFD1	HP:0007703	Abnormality of retinal pigmentation
8481	OFD1	HP:0000286	Epicanthus
8481	OFD1	HP:0025573	Mild myopia
8481	OFD1	HP:0025576	Abnormal inferior vena cava morphology
8481	OFD1	HP:0001596	Alopecia
8481	OFD1	HP:0000256	Macrocephaly
8481	OFD1	HP:0000276	Long face
8481	OFD1	HP:0000271	Abnormality of the face
8481	OFD1	HP:0000268	Dolichocephaly
8481	OFD1	HP:0025549	Eccentric visual fixation
8481	OFD1	HP:0007787	Posterior subcapsular cataract
8481	OFD1	HP:0030084	Clinodactyly
8481	OFD1	HP:0000238	Hydrocephalus
8481	OFD1	HP:0000252	Microcephaly
8481	OFD1	HP:0012206	Abnormal sperm motility
8481	OFD1	HP:0002878	Respiratory failure
8481	OFD1	HP:0000218	High palate
8481	OFD1	HP:0002876	Episodic tachypnea
8481	OFD1	HP:0000204	Cleft upper lip
8481	OFD1	HP:0001508	Failure to thrive
8481	OFD1	HP:0001510	Growth delay
8481	OFD1	HP:0001513	Obesity
8481	OFD1	HP:0007843	Attenuation of retinal blood vessels
8481	OFD1	HP:0011069	Supernumerary tooth
8481	OFD1	HP:0000389	Chronic otitis media
8481	OFD1	HP:0006536	Airway obstruction
8481	OFD1	HP:0002910	Elevated hepatic transaminase
8481	OFD1	HP:0001696	Situs inversus totalis
8481	OFD1	HP:0000365	Hearing impairment
8481	OFD1	HP:0000369	Low-set ears
8481	OFD1	HP:0000368	Low-set, posteriorly rotated ears
8481	OFD1	HP:0001669	Transposition of the great arteries
8481	OFD1	HP:0031456	Ectopic pregnancy
8481	OFD1	HP:0000347	Micrognathia
8481	OFD1	HP:0000316	Hypertelorism
8481	OFD1	HP:0000324	Facial asymmetry
8481	OFD1	HP:0001627	Abnormal heart morphology
8481	OFD1	HP:0000308	Microretrognathia
8481	OFD1	HP:0005301	Persistent left superior vena cava
8481	OFD1	HP:0001738	Exocrine pancreatic insufficiency
8481	OFD1	HP:0000407	Sensorineural hearing impairment
8481	OFD1	HP:0000403	Recurrent otitis media
8481	OFD1	HP:0001737	Pancreatic cysts
8481	OFD1	HP:0000405	Conductive hearing impairment
8481	OFD1	HP:0001732	Abnormality of the pancreas
8481	OFD1	HP:0001719	Double outlet right ventricle
8481	OFD1	HP:0012471	Thick vermilion border
8481	OFD1	HP:0000494	Downslanted palpebral fissures
8481	OFD1	HP:0000463	Anteverted nares
8481	OFD1	HP:0000455	Broad nasal tip
8481	OFD1	HP:0011109	Chronic sinusitis
8481	OFD1	HP:0000453	Choanal atresia
8481	OFD1	HP:0001746	Asplenia
8481	OFD1	HP:0001748	Polysplenia
8481	OFD1	HP:0001742	Nasal congestion
8481	OFD1	HP:0000431	Wide nasal bridge
8481	OFD1	HP:0000430	Underdeveloped nasal alae
8481	OFD1	HP:0000426	Prominent nasal bridge
8481	OFD1	HP:0005425	Recurrent sinopulmonary infections
8481	OFD1	HP:0011274	Recurrent mycobacterial infections
8481	OFD1	HP:0000518	Cataract
8481	OFD1	HP:0000510	Rod-cone dystrophy
8481	OFD1	HP:0000512	Abnormal electroretinogram
8481	OFD1	HP:0001829	Foot polydactyly
8481	OFD1	HP:0000506	Telecanthus
8481	OFD1	HP:0000505	Visual impairment
8481	OFD1	HP:0000501	Glaucoma
8481	OFD1	HP:0001831	Short toe
8481	OFD1	HP:0004097	Deviation of finger
8481	OFD1	HP:0000563	Keratoconus
8481	OFD1	HP:0001885	Short 2nd toe
8481	OFD1	HP:0000565	Esotropia
8481	OFD1	HP:0000551	Color vision defect
8482	SEMA7A	HP:0000007	Autosomal recessive inheritance
8482	SEMA7A	HP:0003593	Infantile onset
8482	SEMA7A	HP:0002240	Hepatomegaly
8482	SEMA7A	HP:0033479	Abnormal circulating bilirubin concentration
8482	SEMA7A	HP:0031956	Elevated circulating aspartate aminotransferase concentration
8482	SEMA7A	HP:0031964	Elevated circulating alanine aminotransferase concentration
8482	SEMA7A	HP:0000989	Pruritus
8482	SEMA7A	HP:0012202	Increased serum bile acid concentration
8490	RGS5	HP:0001426	Multifactorial inheritance
8490	RGS5	HP:0004972	Elevated mean arterial pressure
8490	RGS5	HP:0004421	Elevated systolic blood pressure
8490	RGS5	HP:0005117	Elevated diastolic blood pressure
8492	PRSS12	HP:0010864	Intellectual disability, severe
8492	PRSS12	HP:0000007	Autosomal recessive inheritance
8492	PRSS12	HP:0003487	Babinski sign
8492	PRSS12	HP:0002151	Increased serum lactate
8492	PRSS12	HP:0006801	Hyperactive deep tendon reflexes
8492	PRSS12	HP:0000639	Nystagmus
8492	PRSS12	HP:0011463	Childhood onset
8492	PRSS12	HP:0000486	Strabismus
8493	PPM1D	HP:0001156	Brachydactyly
8493	PPM1D	HP:0025195	Central diaphragmatic hernia
8493	PPM1D	HP:0001252	Hypotonia
8493	PPM1D	HP:0001249	Intellectual disability
8493	PPM1D	HP:0001263	Global developmental delay
8493	PPM1D	HP:0002697	Parietal foramina
8493	PPM1D	HP:0000006	Autosomal dominant inheritance
8493	PPM1D	HP:0000154	Wide mouth
8493	PPM1D	HP:0001428	Somatic mutation
8493	PPM1D	HP:0002719	Recurrent infections
8493	PPM1D	HP:0002020	Gastroesophageal reflux
8493	PPM1D	HP:0002019	Constipation
8493	PPM1D	HP:0002013	Vomiting
8493	PPM1D	HP:0003307	Hyperlordosis
8493	PPM1D	HP:0002136	Broad-based gait
8493	PPM1D	HP:0007018	Attention deficit hyperactivity disorder
8493	PPM1D	HP:0011968	Feeding difficulties
8493	PPM1D	HP:0200055	Small hand
8493	PPM1D	HP:0010780	Hyperacusis
8493	PPM1D	HP:0004322	Short stature
8493	PPM1D	HP:0003002	Breast carcinoma
8493	PPM1D	HP:0000739	Anxiety
8493	PPM1D	HP:0000750	Delayed speech and language development
8493	PPM1D	HP:0000729	Autistic behavior
8493	PPM1D	HP:0000219	Thin upper lip vermilion
8493	PPM1D	HP:0001601	Laryngomalacia
8493	PPM1D	HP:0000358	Posteriorly rotated ears
8493	PPM1D	HP:0000369	Low-set ears
8493	PPM1D	HP:0000337	Broad forehead
8493	PPM1D	HP:0001647	Bicuspid aortic valve
8493	PPM1D	HP:0001629	Ventricular septal defect
8493	PPM1D	HP:0000486	Strabismus
8493	PPM1D	HP:0001792	Small nail
8493	PPM1D	HP:0000463	Anteverted nares
8493	PPM1D	HP:0001773	Short foot
8493	PPM1D	HP:0000540	Hypermetropia
8496	PPFIBP1	HP:0007305	CNS demyelination
8496	PPFIBP1	HP:0001276	Hypertonia
8496	PPFIBP1	HP:0001270	Motor delay
8496	PPFIBP1	HP:0001252	Hypotonia
8496	PPFIBP1	HP:0001249	Intellectual disability
8496	PPFIBP1	HP:0001263	Global developmental delay
8496	PPFIBP1	HP:0007359	Focal-onset seizure
8496	PPFIBP1	HP:0007334	Bilateral tonic-clonic seizure with focal onset
8496	PPFIBP1	HP:0002521	Hypsarrhythmia
8496	PPFIBP1	HP:0002514	Cerebral calcification
8496	PPFIBP1	HP:0002510	Spastic tetraplegia
8496	PPFIBP1	HP:0003811	Neonatal death
8496	PPFIBP1	HP:0000028	Cryptorchidism
8496	PPFIBP1	HP:0001332	Dystonia
8496	PPFIBP1	HP:0001344	Absent speech
8496	PPFIBP1	HP:0000007	Autosomal recessive inheritance
8496	PPFIBP1	HP:0001302	Pachygyria
8496	PPFIBP1	HP:0001320	Cerebellar vermis hypoplasia
8496	PPFIBP1	HP:0000122	Unilateral renal agenesis
8496	PPFIBP1	HP:0002079	Hypoplasia of the corpus callosum
8496	PPFIBP1	HP:0033140	Blake's pouch cyst
8496	PPFIBP1	HP:0002120	Cerebral cortical atrophy
8496	PPFIBP1	HP:0002119	Ventriculomegaly
8496	PPFIBP1	HP:0002197	Generalized-onset seizure
8496	PPFIBP1	HP:0003577	Congenital onset
8496	PPFIBP1	HP:0002282	Gray matter heterotopia
8496	PPFIBP1	HP:0011968	Feeding difficulties
8496	PPFIBP1	HP:0002384	Focal impaired awareness seizure
8496	PPFIBP1	HP:0002352	Leukoencephalopathy
8496	PPFIBP1	HP:0006821	Frontal polymicrogyria
8496	PPFIBP1	HP:0000639	Nystagmus
8496	PPFIBP1	HP:0011330	Metopic synostosis
8496	PPFIBP1	HP:0004322	Short stature
8496	PPFIBP1	HP:0006970	Periventricular leukomalacia
8496	PPFIBP1	HP:0011451	Primary microcephaly
8496	PPFIBP1	HP:0011641	Coronary artery fistula
8496	PPFIBP1	HP:0000252	Microcephaly
8496	PPFIBP1	HP:0001508	Failure to thrive
8496	PPFIBP1	HP:0001518	Small for gestational age
8496	PPFIBP1	HP:0011097	Epileptic spasm
8496	PPFIBP1	HP:0000365	Hearing impairment
8496	PPFIBP1	HP:0032792	Tonic seizure
8496	PPFIBP1	HP:0032794	Myoclonic seizure
8496	PPFIBP1	HP:0001643	Patent ductus arteriosus
8496	PPFIBP1	HP:0001629	Ventricular septal defect
8496	PPFIBP1	HP:0001631	Atrial septal defect
8504	PEX3	HP:0001133	Constriction of peripheral visual field
8504	PEX3	HP:0008572	External ear malformation
8504	PEX3	HP:0009891	Underdeveloped supraorbital ridges
8504	PEX3	HP:0001290	Generalized hypotonia
8504	PEX3	HP:0001284	Areflexia
8504	PEX3	HP:0001250	Seizure
8504	PEX3	HP:0001252	Hypotonia
8504	PEX3	HP:0001251	Ataxia
8504	PEX3	HP:0001263	Global developmental delay
8504	PEX3	HP:0001258	Spastic paraplegia
8504	PEX3	HP:0001257	Spasticity
8504	PEX3	HP:0008665	Clitoral hypertrophy
8504	PEX3	HP:0001399	Hepatic failure
8504	PEX3	HP:0001392	Abnormality of the liver
8504	PEX3	HP:0000047	Hypospadias
8504	PEX3	HP:0001347	Hyperreflexia
8504	PEX3	HP:0000028	Cryptorchidism
8504	PEX3	HP:0008872	Feeding difficulties in infancy
8504	PEX3	HP:0000011	Neurogenic bladder
8504	PEX3	HP:0000007	Autosomal recessive inheritance
8504	PEX3	HP:0000003	Multicystic kidney dysplasia
8504	PEX3	HP:0002652	Skeletal dysplasia
8504	PEX3	HP:0001315	Reduced tendon reflexes
8504	PEX3	HP:0000157	Abnormality of the tongue
8504	PEX3	HP:0000174	Abnormal palate morphology
8504	PEX3	HP:0008936	Axial hypotonia
8504	PEX3	HP:0008935	Generalized neonatal hypotonia
8504	PEX3	HP:0007598	Bilateral single transverse palmar creases
8504	PEX3	HP:0000121	Nephrocalcinosis
8504	PEX3	HP:0000126	Hydronephrosis
8504	PEX3	HP:0002024	Malabsorption
8504	PEX3	HP:0002021	Pyloric stenosis
8504	PEX3	HP:0003323	Progressive muscle weakness
8504	PEX3	HP:0100543	Cognitive impairment
8504	PEX3	HP:0002093	Respiratory insufficiency
8504	PEX3	HP:0005930	Abnormal epiphysis morphology
8504	PEX3	HP:0008167	Very long chain fatty acid accumulation
8504	PEX3	HP:0002126	Polymicrogyria
8504	PEX3	HP:0010571	Elevated circulating phytanic acid concentration
8504	PEX3	HP:0008207	Primary adrenal insufficiency
8504	PEX3	HP:0002266	Focal clonic seizure
8504	PEX3	HP:0002269	Abnormality of neuronal migration
8504	PEX3	HP:0003577	Congenital onset
8504	PEX3	HP:0002240	Hepatomegaly
8504	PEX3	HP:0010655	Epiphyseal stippling
8504	PEX3	HP:0011968	Feeding difficulties
8504	PEX3	HP:0010628	Facial palsy
8504	PEX3	HP:0002376	Developmental regression
8504	PEX3	HP:0002353	EEG abnormality
8504	PEX3	HP:0001088	Brushfield spots
8504	PEX3	HP:0006829	Severe muscular hypotonia
8504	PEX3	HP:0000639	Nystagmus
8504	PEX3	HP:0000648	Optic atrophy
8504	PEX3	HP:0000627	Posterior embryotoxon
8504	PEX3	HP:0001928	Abnormality of coagulation
8504	PEX3	HP:0001939	Abnormality of metabolism/homeostasis
8504	PEX3	HP:0011344	Severe global developmental delay
8504	PEX3	HP:0000662	Nyctalopia
8504	PEX3	HP:0004322	Short stature
8504	PEX3	HP:0012736	Profound global developmental delay
8504	PEX3	HP:0100022	Abnormality of movement
8504	PEX3	HP:0000708	Atypical behavior
8504	PEX3	HP:0003186	Inverted nipples
8504	PEX3	HP:0000952	Jaundice
8504	PEX3	HP:0008064	Ichthyosis
8504	PEX3	HP:0011675	Arrhythmia
8504	PEX3	HP:0007703	Abnormality of retinal pigmentation
8504	PEX3	HP:0000286	Epicanthus
8504	PEX3	HP:0000260	Wide anterior fontanel
8504	PEX3	HP:0000256	Macrocephaly
8504	PEX3	HP:0000271	Abnormality of the face
8504	PEX3	HP:0000268	Dolichocephaly
8504	PEX3	HP:0000252	Microcephaly
8504	PEX3	HP:0000218	High palate
8504	PEX3	HP:0001558	Decreased fetal movement
8504	PEX3	HP:0001522	Death in infancy
8504	PEX3	HP:0001508	Failure to thrive
8504	PEX3	HP:0012389	Appendicular hypotonia
8504	PEX3	HP:0012368	Flat face
8504	PEX3	HP:0000365	Hearing impairment
8504	PEX3	HP:0000358	Posteriorly rotated ears
8504	PEX3	HP:0000369	Low-set ears
8504	PEX3	HP:0000368	Low-set, posteriorly rotated ears
8504	PEX3	HP:0000337	Broad forehead
8504	PEX3	HP:0000348	High forehead
8504	PEX3	HP:0000347	Micrognathia
8504	PEX3	HP:0000316	Hypertelorism
8504	PEX3	HP:0001629	Ventricular septal defect
8504	PEX3	HP:0001622	Premature birth
8504	PEX3	HP:0001638	Cardiomyopathy
8504	PEX3	HP:0007957	Corneal opacity
8504	PEX3	HP:0000407	Sensorineural hearing impairment
8504	PEX3	HP:0005280	Depressed nasal bridge
8504	PEX3	HP:0000486	Strabismus
8504	PEX3	HP:0000494	Downslanted palpebral fissures
8504	PEX3	HP:0000463	Anteverted nares
8504	PEX3	HP:0000474	Thickened nuchal skin fold
8504	PEX3	HP:0000448	Prominent nose
8504	PEX3	HP:0000431	Wide nasal bridge
8504	PEX3	HP:0005469	Flat occiput
8504	PEX3	HP:0000518	Cataract
8504	PEX3	HP:0000510	Rod-cone dystrophy
8504	PEX3	HP:0000508	Ptosis
8504	PEX3	HP:0000505	Visual impairment
8504	PEX3	HP:0000501	Glaucoma
8504	PEX3	HP:0000582	Upslanted palpebral fissure
8504	PEX3	HP:0000532	Abnormal chorioretinal morphology
8506	CNTNAP1	HP:0001188	Hand clenching
8506	CNTNAP1	HP:0001290	Generalized hypotonia
8506	CNTNAP1	HP:0001272	Cerebellar atrophy
8506	CNTNAP1	HP:0001284	Areflexia
8506	CNTNAP1	HP:0001250	Seizure
8506	CNTNAP1	HP:0001252	Hypotonia
8506	CNTNAP1	HP:0001265	Hyporeflexia
8506	CNTNAP1	HP:0001257	Spasticity
8506	CNTNAP1	HP:0001376	Limitation of joint mobility
8506	CNTNAP1	HP:0001371	Flexion contracture
8506	CNTNAP1	HP:0001349	Facial diplegia
8506	CNTNAP1	HP:0001347	Hyperreflexia
8506	CNTNAP1	HP:0001332	Dystonia
8506	CNTNAP1	HP:0000007	Autosomal recessive inheritance
8506	CNTNAP1	HP:0001315	Reduced tendon reflexes
8506	CNTNAP1	HP:0002020	Gastroesophageal reflux
8506	CNTNAP1	HP:0002098	Respiratory distress
8506	CNTNAP1	HP:0002093	Respiratory insufficiency
8506	CNTNAP1	HP:0002079	Hypoplasia of the corpus callosum
8506	CNTNAP1	HP:0002059	Cerebral atrophy
8506	CNTNAP1	HP:0003470	Paralysis
8506	CNTNAP1	HP:0003487	Babinski sign
8506	CNTNAP1	HP:0003457	EMG abnormality
8506	CNTNAP1	HP:0003429	CNS hypomyelination
8506	CNTNAP1	HP:0003577	Congenital onset
8506	CNTNAP1	HP:0200136	Oral-pharyngeal dysphagia
8506	CNTNAP1	HP:0012697	Small basal ganglia
8506	CNTNAP1	HP:0001989	Fetal akinesia sequence
8506	CNTNAP1	HP:0004326	Cachexia
8506	CNTNAP1	HP:0034197	Third trimester onset
8506	CNTNAP1	HP:0005684	Distal arthrogryposis
8506	CNTNAP1	HP:0003121	Limb joint contracture
8506	CNTNAP1	HP:0003202	Skeletal muscle atrophy
8506	CNTNAP1	HP:0000286	Epicanthus
8506	CNTNAP1	HP:0000268	Dolichocephaly
8506	CNTNAP1	HP:0002804	Arthrogryposis multiplex congenita
8506	CNTNAP1	HP:0006380	Knee flexion contracture
8506	CNTNAP1	HP:0000252	Microcephaly
8506	CNTNAP1	HP:0000218	High palate
8506	CNTNAP1	HP:0000212	Gingival overgrowth
8506	CNTNAP1	HP:0001561	Polyhydramnios
8506	CNTNAP1	HP:0001558	Decreased fetal movement
8506	CNTNAP1	HP:0000365	Hearing impairment
8506	CNTNAP1	HP:0000369	Low-set ears
8506	CNTNAP1	HP:0000347	Micrognathia
8506	CNTNAP1	HP:0012471	Thick vermilion border
8506	CNTNAP1	HP:0001760	Abnormal foot morphology
8506	CNTNAP1	HP:0000508	Ptosis
8506	CNTNAP1	HP:0000505	Visual impairment
8510	MMP23B	HP:0001156	Brachydactyly
8510	MMP23B	HP:0002465	Poor speech
8510	MMP23B	HP:0001107	Ocular albinism
8510	MMP23B	HP:0008551	Microtia
8510	MMP23B	HP:0001274	Agenesis of corpus callosum
8510	MMP23B	HP:0001288	Gait disturbance
8510	MMP23B	HP:0001250	Seizure
8510	MMP23B	HP:0001252	Hypotonia
8510	MMP23B	HP:0001249	Intellectual disability
8510	MMP23B	HP:0002591	Polyphagia
8510	MMP23B	HP:0001263	Global developmental delay
8510	MMP23B	HP:0008736	Hypoplasia of penis
8510	MMP23B	HP:0001397	Hepatic steatosis
8510	MMP23B	HP:0001392	Abnormality of the liver
8510	MMP23B	HP:0000077	Abnormality of the kidney
8510	MMP23B	HP:0000055	Abnormality of female external genitalia
8510	MMP23B	HP:0001385	Hip dysplasia
8510	MMP23B	HP:0001387	Joint stiffness
8510	MMP23B	HP:0000047	Hypospadias
8510	MMP23B	HP:0000028	Cryptorchidism
8510	MMP23B	HP:0008872	Feeding difficulties in infancy
8510	MMP23B	HP:0001344	Absent speech
8510	MMP23B	HP:0002650	Scoliosis
8510	MMP23B	HP:0000160	Narrow mouth
8510	MMP23B	HP:0000135	Hypogonadism
8510	MMP23B	HP:0000126	Hydronephrosis
8510	MMP23B	HP:0000107	Renal cyst
8510	MMP23B	HP:0002715	Abnormality of the immune system
8510	MMP23B	HP:0002021	Pyloric stenosis
8510	MMP23B	HP:0002020	Gastroesophageal reflux
8510	MMP23B	HP:0002019	Constipation
8510	MMP23B	HP:0002015	Dysphagia
8510	MMP23B	HP:0002007	Frontal bossing
8510	MMP23B	HP:0011800	Midface retrusion
8510	MMP23B	HP:0100559	Lower limb asymmetry
8510	MMP23B	HP:0002120	Cerebral cortical atrophy
8510	MMP23B	HP:0002119	Ventriculomegaly
8510	MMP23B	HP:0003416	Spinal canal stenosis
8510	MMP23B	HP:0002167	Abnormality of speech or vocalization
8510	MMP23B	HP:0100490	Camptodactyly of finger
8510	MMP23B	HP:0002242	Abnormal intestine morphology
8510	MMP23B	HP:0100716	Self-injurious behavior
8510	MMP23B	HP:0002230	Generalized hirsutism
8510	MMP23B	HP:0001009	Telangiectasia
8510	MMP23B	HP:0002353	EEG abnormality
8510	MMP23B	HP:0008499	High hypermetropia
8510	MMP23B	HP:0004209	Clinodactyly of the 5th finger
8510	MMP23B	HP:0006824	Cranial nerve paralysis
8510	MMP23B	HP:0000639	Nystagmus
8510	MMP23B	HP:0000648	Optic atrophy
8510	MMP23B	HP:0004322	Short stature
8510	MMP23B	HP:0030680	Abnormality of cardiovascular system morphology
8510	MMP23B	HP:0004378	Abnormality of the anus
8510	MMP23B	HP:0004374	Hemiplegia/hemiparesis
8510	MMP23B	HP:0003006	Neuroblastoma
8510	MMP23B	HP:0012733	Macule
8510	MMP23B	HP:0000733	Abnormal repetitive mannerisms
8510	MMP23B	HP:0000750	Delayed speech and language development
8510	MMP23B	HP:0000717	Autism
8510	MMP23B	HP:0000708	Atypical behavior
8510	MMP23B	HP:0003198	Myopathy
8510	MMP23B	HP:0000902	Rib fusion
8510	MMP23B	HP:0000878	11 pairs of ribs
8510	MMP23B	HP:0000892	Bifid ribs
8510	MMP23B	HP:0000821	Hypothyroidism
8510	MMP23B	HP:0008066	Abnormal blistering of the skin
8510	MMP23B	HP:0000286	Epicanthus
8510	MMP23B	HP:0000270	Delayed cranial suture closure
8510	MMP23B	HP:0005113	Aortic arch aneurysm
8510	MMP23B	HP:0002808	Kyphosis
8510	MMP23B	HP:0000252	Microcephaly
8510	MMP23B	HP:0000248	Brachycephaly
8510	MMP23B	HP:0001508	Failure to thrive
8510	MMP23B	HP:0001513	Obesity
8510	MMP23B	HP:0000368	Low-set, posteriorly rotated ears
8510	MMP23B	HP:0001671	Abnormal cardiac septum morphology
8510	MMP23B	HP:0000343	Long philtrum
8510	MMP23B	HP:0001643	Patent ductus arteriosus
8510	MMP23B	HP:0001644	Dilated cardiomyopathy
8510	MMP23B	HP:0001654	Abnormal heart valve morphology
8510	MMP23B	HP:0001636	Tetralogy of Fallot
8510	MMP23B	HP:0000307	Pointed chin
8510	MMP23B	HP:0000407	Sensorineural hearing impairment
8510	MMP23B	HP:0001734	Annular pancreas
8510	MMP23B	HP:0000405	Conductive hearing impairment
8510	MMP23B	HP:0005280	Depressed nasal bridge
8510	MMP23B	HP:0000486	Strabismus
8510	MMP23B	HP:0000490	Deeply set eye
8510	MMP23B	HP:0000464	Abnormality of the neck
8510	MMP23B	HP:0000457	Depressed nasal ridge
8510	MMP23B	HP:0001773	Short foot
8510	MMP23B	HP:0001743	Abnormality of the spleen
8510	MMP23B	HP:0000431	Wide nasal bridge
8510	MMP23B	HP:0000518	Cataract
8510	MMP23B	HP:0001829	Foot polydactyly
8510	MMP23B	HP:0000505	Visual impairment
8510	MMP23B	HP:0000504	Abnormality of vision
8510	MMP23B	HP:0011228	Horizontal eyebrow
8510	MMP23B	HP:0000534	Abnormal eyebrow morphology
8514	KCNAB2	HP:0001156	Brachydactyly
8514	KCNAB2	HP:0002465	Poor speech
8514	KCNAB2	HP:0001107	Ocular albinism
8514	KCNAB2	HP:0008551	Microtia
8514	KCNAB2	HP:0001274	Agenesis of corpus callosum
8514	KCNAB2	HP:0001288	Gait disturbance
8514	KCNAB2	HP:0001250	Seizure
8514	KCNAB2	HP:0001252	Hypotonia
8514	KCNAB2	HP:0001249	Intellectual disability
8514	KCNAB2	HP:0002591	Polyphagia
8514	KCNAB2	HP:0001263	Global developmental delay
8514	KCNAB2	HP:0008736	Hypoplasia of penis
8514	KCNAB2	HP:0001397	Hepatic steatosis
8514	KCNAB2	HP:0001392	Abnormality of the liver
8514	KCNAB2	HP:0000077	Abnormality of the kidney
8514	KCNAB2	HP:0000055	Abnormality of female external genitalia
8514	KCNAB2	HP:0001385	Hip dysplasia
8514	KCNAB2	HP:0001387	Joint stiffness
8514	KCNAB2	HP:0000047	Hypospadias
8514	KCNAB2	HP:0000028	Cryptorchidism
8514	KCNAB2	HP:0008872	Feeding difficulties in infancy
8514	KCNAB2	HP:0001344	Absent speech
8514	KCNAB2	HP:0002650	Scoliosis
8514	KCNAB2	HP:0000160	Narrow mouth
8514	KCNAB2	HP:0000135	Hypogonadism
8514	KCNAB2	HP:0000126	Hydronephrosis
8514	KCNAB2	HP:0000107	Renal cyst
8514	KCNAB2	HP:0002715	Abnormality of the immune system
8514	KCNAB2	HP:0002021	Pyloric stenosis
8514	KCNAB2	HP:0002020	Gastroesophageal reflux
8514	KCNAB2	HP:0002019	Constipation
8514	KCNAB2	HP:0002015	Dysphagia
8514	KCNAB2	HP:0002007	Frontal bossing
8514	KCNAB2	HP:0011800	Midface retrusion
8514	KCNAB2	HP:0100559	Lower limb asymmetry
8514	KCNAB2	HP:0002120	Cerebral cortical atrophy
8514	KCNAB2	HP:0002119	Ventriculomegaly
8514	KCNAB2	HP:0003416	Spinal canal stenosis
8514	KCNAB2	HP:0002167	Abnormality of speech or vocalization
8514	KCNAB2	HP:0100490	Camptodactyly of finger
8514	KCNAB2	HP:0002242	Abnormal intestine morphology
8514	KCNAB2	HP:0100716	Self-injurious behavior
8514	KCNAB2	HP:0002230	Generalized hirsutism
8514	KCNAB2	HP:0001009	Telangiectasia
8514	KCNAB2	HP:0002353	EEG abnormality
8514	KCNAB2	HP:0008499	High hypermetropia
8514	KCNAB2	HP:0004209	Clinodactyly of the 5th finger
8514	KCNAB2	HP:0006824	Cranial nerve paralysis
8514	KCNAB2	HP:0000639	Nystagmus
8514	KCNAB2	HP:0000648	Optic atrophy
8514	KCNAB2	HP:0004322	Short stature
8514	KCNAB2	HP:0030680	Abnormality of cardiovascular system morphology
8514	KCNAB2	HP:0004378	Abnormality of the anus
8514	KCNAB2	HP:0004374	Hemiplegia/hemiparesis
8514	KCNAB2	HP:0003006	Neuroblastoma
8514	KCNAB2	HP:0012733	Macule
8514	KCNAB2	HP:0000733	Abnormal repetitive mannerisms
8514	KCNAB2	HP:0000750	Delayed speech and language development
8514	KCNAB2	HP:0000717	Autism
8514	KCNAB2	HP:0000708	Atypical behavior
8514	KCNAB2	HP:0003198	Myopathy
8514	KCNAB2	HP:0000902	Rib fusion
8514	KCNAB2	HP:0000878	11 pairs of ribs
8514	KCNAB2	HP:0000892	Bifid ribs
8514	KCNAB2	HP:0000821	Hypothyroidism
8514	KCNAB2	HP:0008066	Abnormal blistering of the skin
8514	KCNAB2	HP:0000286	Epicanthus
8514	KCNAB2	HP:0000270	Delayed cranial suture closure
8514	KCNAB2	HP:0005113	Aortic arch aneurysm
8514	KCNAB2	HP:0002808	Kyphosis
8514	KCNAB2	HP:0000252	Microcephaly
8514	KCNAB2	HP:0000248	Brachycephaly
8514	KCNAB2	HP:0001508	Failure to thrive
8514	KCNAB2	HP:0001513	Obesity
8514	KCNAB2	HP:0000368	Low-set, posteriorly rotated ears
8514	KCNAB2	HP:0001671	Abnormal cardiac septum morphology
8514	KCNAB2	HP:0000343	Long philtrum
8514	KCNAB2	HP:0001643	Patent ductus arteriosus
8514	KCNAB2	HP:0001644	Dilated cardiomyopathy
8514	KCNAB2	HP:0001654	Abnormal heart valve morphology
8514	KCNAB2	HP:0001636	Tetralogy of Fallot
8514	KCNAB2	HP:0000307	Pointed chin
8514	KCNAB2	HP:0000407	Sensorineural hearing impairment
8514	KCNAB2	HP:0001734	Annular pancreas
8514	KCNAB2	HP:0000405	Conductive hearing impairment
8514	KCNAB2	HP:0005280	Depressed nasal bridge
8514	KCNAB2	HP:0000486	Strabismus
8514	KCNAB2	HP:0000490	Deeply set eye
8514	KCNAB2	HP:0000464	Abnormality of the neck
8514	KCNAB2	HP:0000457	Depressed nasal ridge
8514	KCNAB2	HP:0001773	Short foot
8514	KCNAB2	HP:0001743	Abnormality of the spleen
8514	KCNAB2	HP:0000431	Wide nasal bridge
8514	KCNAB2	HP:0000518	Cataract
8514	KCNAB2	HP:0001829	Foot polydactyly
8514	KCNAB2	HP:0000505	Visual impairment
8514	KCNAB2	HP:0000504	Abnormality of vision
8514	KCNAB2	HP:0011228	Horizontal eyebrow
8514	KCNAB2	HP:0000534	Abnormal eyebrow morphology
8516	ITGA8	HP:0010958	Bilateral renal agenesis
8516	ITGA8	HP:0002575	Tracheoesophageal fistula
8516	ITGA8	HP:0000093	Proteinuria
8516	ITGA8	HP:0000008	Abnormal morphology of female internal genitalia
8516	ITGA8	HP:0000007	Autosomal recessive inheritance
8516	ITGA8	HP:0000175	Cleft palate
8516	ITGA8	HP:0000148	Vaginal atresia
8516	ITGA8	HP:0000110	Renal dysplasia
8516	ITGA8	HP:0000104	Renal agenesis
8516	ITGA8	HP:0002009	Potter facies
8516	ITGA8	HP:0002089	Pulmonary hypoplasia
8516	ITGA8	HP:0100589	Urogenital fistula
8516	ITGA8	HP:0010497	Sirenomelia
8516	ITGA8	HP:0003577	Congenital onset
8516	ITGA8	HP:0002242	Abnormal intestine morphology
8516	ITGA8	HP:0001958	Nonketotic hypoglycemia
8516	ITGA8	HP:0030680	Abnormality of cardiovascular system morphology
8516	ITGA8	HP:0000786	Primary amenorrhea
8516	ITGA8	HP:0100335	Non-midline cleft lip
8516	ITGA8	HP:0000813	Bicornuate uterus
8516	ITGA8	HP:0000822	Hypertension
8516	ITGA8	HP:0000286	Epicanthus
8516	ITGA8	HP:0000278	Retrognathia
8516	ITGA8	HP:0005107	Abnormal sacrum morphology
8516	ITGA8	HP:0001562	Oligohydramnios
8516	ITGA8	HP:0001563	Fetal polyuria
8516	ITGA8	HP:0000369	Low-set ears
8516	ITGA8	HP:0000316	Hypertelorism
8516	ITGA8	HP:0000457	Depressed nasal ridge
8516	ITGA8	HP:0001762	Talipes equinovarus
8516	ITGA8	HP:0025700	Anhydramnios
8517	IKBKG	HP:0410242	Abnormal circulating IgG level
8517	IKBKG	HP:0032283	Disseminated nontuberculous mycobacterial infection
8517	IKBKG	HP:0001288	Gait disturbance
8517	IKBKG	HP:0001250	Seizure
8517	IKBKG	HP:0001252	Hypotonia
8517	IKBKG	HP:0001249	Intellectual disability
8517	IKBKG	HP:0001263	Global developmental delay
8517	IKBKG	HP:0001257	Spasticity
8517	IKBKG	HP:0001231	Abnormal fingernail morphology
8517	IKBKG	HP:0002557	Hypoplastic nipples
8517	IKBKG	HP:0002558	Supernumerary nipple
8517	IKBKG	HP:0006101	Finger syndactyly
8517	IKBKG	HP:0007400	Irregular hyperpigmentation
8517	IKBKG	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
8517	IKBKG	HP:0010978	Abnormality of immune system physiology
8517	IKBKG	HP:0010976	B lymphocytopenia
8517	IKBKG	HP:0001342	Cerebral hemorrhage
8517	IKBKG	HP:0002637	Cerebral ischemia
8517	IKBKG	HP:0002650	Scoliosis
8517	IKBKG	HP:0012178	Reduced natural killer cell activity
8517	IKBKG	HP:0002797	Osteolysis
8517	IKBKG	HP:0012121	Panuveitis
8517	IKBKG	HP:0012122	Anterior uveitis
8517	IKBKG	HP:0001423	X-linked dominant inheritance
8517	IKBKG	HP:0002754	Osteomyelitis
8517	IKBKG	HP:0001433	Hepatosplenomegaly
8517	IKBKG	HP:0002751	Kyphoscoliosis
8517	IKBKG	HP:0001419	X-linked recessive inheritance
8517	IKBKG	HP:0001417	X-linked inheritance
8517	IKBKG	HP:0002718	Recurrent bacterial infections
8517	IKBKG	HP:0002721	Immunodeficiency
8517	IKBKG	HP:0002007	Frontal bossing
8517	IKBKG	HP:0100543	Cognitive impairment
8517	IKBKG	HP:0002092	Pulmonary arterial hypertension
8517	IKBKG	HP:0100555	Asymmetric growth
8517	IKBKG	HP:0100585	Telangiectasia of the skin
8517	IKBKG	HP:0005922	Abnormal hand morphology
8517	IKBKG	HP:0002120	Cerebral cortical atrophy
8517	IKBKG	HP:0002164	Nail dysplasia
8517	IKBKG	HP:0003496	Increased circulating IgM level
8517	IKBKG	HP:0100490	Camptodactyly of finger
8517	IKBKG	HP:0003593	Infantile onset
8517	IKBKG	HP:0003577	Congenital onset
8517	IKBKG	HP:0002213	Fine hair
8517	IKBKG	HP:0002208	Coarse hair
8517	IKBKG	HP:0100783	Breast aplasia
8517	IKBKG	HP:0008402	Ridged fingernail
8517	IKBKG	HP:0008404	Nail dystrophy
8517	IKBKG	HP:0007018	Attention deficit hyperactivity disorder
8517	IKBKG	HP:0008388	Abnormal toenail morphology
8517	IKBKG	HP:0002383	Infectious encephalitis
8517	IKBKG	HP:0001053	Hypopigmented skin patches
8517	IKBKG	HP:0001004	Lymphedema
8517	IKBKG	HP:0001000	Abnormality of skin pigmentation
8517	IKBKG	HP:0100653	Optic neuritis
8517	IKBKG	HP:0200043	Verrucae
8517	IKBKG	HP:0200042	Skin ulcer
8517	IKBKG	HP:0010783	Erythema
8517	IKBKG	HP:0020102	Pneumocystis jirovecii pneumonia
8517	IKBKG	HP:0032163	Molluscum contagiosum
8517	IKBKG	HP:0100699	Scarring
8517	IKBKG	HP:0000648	Optic atrophy
8517	IKBKG	HP:0001974	Leukocytosis
8517	IKBKG	HP:0000698	Conical tooth
8517	IKBKG	HP:0000682	Abnormal dental enamel morphology
8517	IKBKG	HP:0000684	Delayed eruption of teeth
8517	IKBKG	HP:0000677	Oligodontia
8517	IKBKG	HP:0000668	Hypodontia
8517	IKBKG	HP:0004322	Short stature
8517	IKBKG	HP:0004315	Decreased circulating IgG level
8517	IKBKG	HP:0004313	Decreased circulating antibody level
8517	IKBKG	HP:0004374	Hemiplegia/hemiparesis
8517	IKBKG	HP:0003187	Breast hypoplasia
8517	IKBKG	HP:0040042	Aplasia of the eccrine sweat glands
8517	IKBKG	HP:0004529	Atrophic, patchy alopecia
8517	IKBKG	HP:0003298	Spina bifida occulta
8517	IKBKG	HP:0003261	Increased circulating IgA level
8517	IKBKG	HP:0000980	Pallor
8517	IKBKG	HP:0000975	Hyperhidrosis
8517	IKBKG	HP:0000988	Skin rash
8517	IKBKG	HP:0000968	Ectodermal dysplasia
8517	IKBKG	HP:0000962	Hyperkeratosis
8517	IKBKG	HP:0005815	Supernumerary ribs
8517	IKBKG	HP:0008070	Sparse hair
8517	IKBKG	HP:0008066	Abnormal blistering of the skin
8517	IKBKG	HP:0040186	Maculopapular exanthema
8517	IKBKG	HP:0001595	Abnormal hair morphology
8517	IKBKG	HP:0001597	Abnormality of the nail
8517	IKBKG	HP:0001596	Alopecia
8517	IKBKG	HP:0007750	Hypoplasia of the fovea
8517	IKBKG	HP:0000252	Microcephaly
8517	IKBKG	HP:0001537	Umbilical hernia
8517	IKBKG	HP:0000202	Orofacial cleft
8517	IKBKG	HP:0002850	Decreased circulating total IgM
8517	IKBKG	HP:0011065	Conical incisor
8517	IKBKG	HP:0007850	Retinal vascular proliferation
8517	IKBKG	HP:0002937	Hemivertebrae
8517	IKBKG	HP:0006482	Abnormality of dental morphology
8517	IKBKG	HP:0000364	Hearing abnormality
8517	IKBKG	HP:0002961	Dysgammaglobulinemia
8517	IKBKG	HP:0001635	Congestive heart failure
8517	IKBKG	HP:0007957	Corneal opacity
8517	IKBKG	HP:0012490	Panniculitis
8517	IKBKG	HP:0004050	Absent hand
8517	IKBKG	HP:0000486	Strabismus
8517	IKBKG	HP:0000491	Keratitis
8517	IKBKG	HP:0012424	Chorioretinitis
8517	IKBKG	HP:0000518	Cataract
8517	IKBKG	HP:0001821	Broad nail
8517	IKBKG	HP:0000505	Visual impairment
8517	IKBKG	HP:0001805	Onychogryposis
8517	IKBKG	HP:0001804	Hypoplastic fingernail
8517	IKBKG	HP:0001807	Ridged nail
8517	IKBKG	HP:0001803	Nail pits
8517	IKBKG	HP:0004097	Deviation of finger
8517	IKBKG	HP:0001810	Dystrophic toenail
8517	IKBKG	HP:0031692	Severe cytomegalovirus infection
8517	IKBKG	HP:0000592	Blue sclerae
8517	IKBKG	HP:0000554	Uveitis
8517	IKBKG	HP:0000573	Retinal hemorrhage
8517	IKBKG	HP:0000568	Microphthalmia
8517	IKBKG	HP:0000541	Retinal detachment
8517	IKBKG	HP:0000532	Abnormal chorioretinal morphology
8517	IKBKG	HP:0001880	Eosinophilia
8517	IKBKG	HP:0001875	Neutropenia
8518	ELP1	HP:0007328	Impaired pain sensation
8518	ELP1	HP:0010885	Avascular necrosis
8518	ELP1	HP:0001100	Heterochromia iridis
8518	ELP1	HP:0001290	Generalized hypotonia
8518	ELP1	HP:0001278	Orthostatic hypotension
8518	ELP1	HP:0100820	Glomerulopathy
8518	ELP1	HP:0001288	Gait disturbance
8518	ELP1	HP:0002585	Abnormality of the peritoneum
8518	ELP1	HP:0001250	Seizure
8518	ELP1	HP:0001252	Hypotonia
8518	ELP1	HP:0001251	Ataxia
8518	ELP1	HP:0001265	Hyporeflexia
8518	ELP1	HP:0003829	Typified by incomplete penetrance
8518	ELP1	HP:0000083	Renal insufficiency
8518	ELP1	HP:0000096	Glomerular sclerosis
8518	ELP1	HP:0000077	Abnormality of the kidney
8518	ELP1	HP:0008872	Feeding difficulties in infancy
8518	ELP1	HP:0000007	Autosomal recessive inheritance
8518	ELP1	HP:0000006	Autosomal dominant inheritance
8518	ELP1	HP:0002650	Scoliosis
8518	ELP1	HP:0002797	Osteolysis
8518	ELP1	HP:0002757	Recurrent fractures
8518	ELP1	HP:0001428	Somatic mutation
8518	ELP1	HP:0002020	Gastroesophageal reflux
8518	ELP1	HP:0002019	Constipation
8518	ELP1	HP:0002014	Diarrhea
8518	ELP1	HP:0002013	Vomiting
8518	ELP1	HP:0005947	Decreased sensitivity to hypoxemia
8518	ELP1	HP:0002047	Malignant hyperthermia
8518	ELP1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
8518	ELP1	HP:0003457	EMG abnormality
8518	ELP1	HP:0002103	Abnormal pleura morphology
8518	ELP1	HP:0003577	Congenital onset
8518	ELP1	HP:0004891	Recurrent infections due to aspiration
8518	ELP1	HP:0002205	Recurrent respiratory infections
8518	ELP1	HP:0001069	Episodic hyperhidrosis
8518	ELP1	HP:0001063	Acrocyanosis
8518	ELP1	HP:0003676	Progressive
8518	ELP1	HP:0200020	Corneal erosion
8518	ELP1	HP:0009830	Peripheral neuropathy
8518	ELP1	HP:0002311	Incoordination
8518	ELP1	HP:0000648	Optic atrophy
8518	ELP1	HP:0000615	Abnormal pupil morphology
8518	ELP1	HP:0001954	Recurrent fever
8518	ELP1	HP:0000712	Emotional lability
8518	ELP1	HP:0000708	Atypical behavior
8518	ELP1	HP:0003138	Increased blood urea nitrogen
8518	ELP1	HP:0012804	Corneal ulceration
8518	ELP1	HP:0000822	Hypertension
8518	ELP1	HP:0003259	Elevated circulating creatinine concentration
8518	ELP1	HP:0008000	Decreased corneal reflex
8518	ELP1	HP:0000975	Hyperhidrosis
8518	ELP1	HP:0000966	Hypohidrosis
8518	ELP1	HP:0002821	Neuropathic arthropathy
8518	ELP1	HP:0012211	Abnormal renal physiology
8518	ELP1	HP:0000224	Hypogeusia
8518	ELP1	HP:0002885	Medulloblastoma
8518	ELP1	HP:0001510	Growth delay
8518	ELP1	HP:0002902	Hyponatremia
8518	ELP1	HP:0001649	Tachycardia
8518	ELP1	HP:0007957	Corneal opacity
8518	ELP1	HP:0000495	Recurrent corneal erosions
8518	ELP1	HP:0000522	Alacrima
8518	ELP1	HP:0000545	Myopia
8526	DGKE	HP:0003774	Stage 5 chronic kidney disease
8526	DGKE	HP:0000099	Glomerulonephritis
8526	DGKE	HP:0000093	Proteinuria
8526	DGKE	HP:0000007	Autosomal recessive inheritance
8526	DGKE	HP:0000100	Nephrotic syndrome
8526	DGKE	HP:0004722	Thickened glomerular basement membrane
8526	DGKE	HP:0003676	Progressive
8526	DGKE	HP:0005575	Hemolytic-uremic syndrome
8526	DGKE	HP:0001919	Acute kidney injury
8526	DGKE	HP:0001878	Hemolytic anemia
8526	DGKE	HP:0001873	Thrombocytopenia
8540	AGPS	HP:0008873	Disproportionate short-limb short stature
8540	AGPS	HP:0000007	Autosomal recessive inheritance
8540	AGPS	HP:0008905	Rhizomelia
8540	AGPS	HP:0010655	Epiphyseal stippling
8540	AGPS	HP:0005792	Short humerus
8540	AGPS	HP:0003097	Short femur
8540	AGPS	HP:0001508	Failure to thrive
8542	APOL1	HP:0003774	Stage 5 chronic kidney disease
8542	APOL1	HP:0002586	Peritonitis
8542	APOL1	HP:0010982	Polygenic inheritance
8542	APOL1	HP:0000097	Focal segmental glomerulosclerosis
8542	APOL1	HP:0000093	Proteinuria
8542	APOL1	HP:0002027	Abdominal pain
8542	APOL1	HP:0100539	Periorbital edema
8542	APOL1	HP:0011947	Respiratory tract infection
8542	APOL1	HP:0002315	Headache
8542	APOL1	HP:0012622	Chronic kidney disease
8542	APOL1	HP:0001967	Diffuse mesangial sclerosis
8542	APOL1	HP:0001945	Fever
8542	APOL1	HP:0003073	Hypoalbuminemia
8542	APOL1	HP:0000737	Irritability
8542	APOL1	HP:0000707	Abnormality of the nervous system
8542	APOL1	HP:0000969	Edema
8542	APOL1	HP:0031504	Foamy urine
8542	APOL1	HP:0012579	Minimal change glomerulonephritis
8546	AP3B1	HP:0001107	Ocular albinism
8546	AP3B1	HP:0001270	Motor delay
8546	AP3B1	HP:0001256	Intellectual disability, mild
8546	AP3B1	HP:0007384	Aberrant melanosome maturation
8546	AP3B1	HP:0008807	Acetabular dysplasia
8546	AP3B1	HP:0007513	Generalized hypopigmentation
8546	AP3B1	HP:0000007	Autosomal recessive inheritance
8546	AP3B1	HP:0012178	Reduced natural killer cell activity
8546	AP3B1	HP:0007663	Reduced visual acuity
8546	AP3B1	HP:0001433	Hepatosplenomegaly
8546	AP3B1	HP:0002718	Recurrent bacterial infections
8546	AP3B1	HP:0002722	Recurrent abscess formation
8546	AP3B1	HP:0002020	Gastroesophageal reflux
8546	AP3B1	HP:0033222	Decreased CD4:CD8 ratio
8546	AP3B1	HP:0033264	Enlarged platelet dense granules
8546	AP3B1	HP:0033263	Absent platelet dense granules
8546	AP3B1	HP:0003577	Congenital onset
8546	AP3B1	HP:0002240	Hepatomegaly
8546	AP3B1	HP:0002206	Pulmonary fibrosis
8546	AP3B1	HP:0004866	Impaired ADP-induced platelet aggregation
8546	AP3B1	HP:0002286	Fair hair
8546	AP3B1	HP:0001022	Albinism
8546	AP3B1	HP:0009098	Chronic oral candidiasis
8546	AP3B1	HP:0000639	Nystagmus
8546	AP3B1	HP:0000613	Photophobia
8546	AP3B1	HP:0011342	Mild global developmental delay
8546	AP3B1	HP:0000670	Carious teeth
8546	AP3B1	HP:0000666	Horizontal nystagmus
8546	AP3B1	HP:0003010	Prolonged bleeding time
8546	AP3B1	HP:0000704	Periodontitis
8546	AP3B1	HP:0040218	Reduced natural killer cell count
8546	AP3B1	HP:0000286	Epicanthus
8546	AP3B1	HP:0000280	Coarse facial features
8546	AP3B1	HP:0000252	Microcephaly
8546	AP3B1	HP:0000219	Thin upper lip vermilion
8546	AP3B1	HP:0006532	Recurrent pneumonia
8546	AP3B1	HP:0000358	Posteriorly rotated ears
8546	AP3B1	HP:0000369	Low-set ears
8546	AP3B1	HP:0000343	Long philtrum
8546	AP3B1	HP:0000319	Smooth philtrum
8546	AP3B1	HP:0000403	Recurrent otitis media
8546	AP3B1	HP:0000486	Strabismus
8546	AP3B1	HP:0001744	Splenomegaly
8546	AP3B1	HP:0000431	Wide nasal bridge
8546	AP3B1	HP:0000582	Upslanted palpebral fissure
8546	AP3B1	HP:0001873	Thrombocytopenia
8546	AP3B1	HP:0001875	Neutropenia
8547	FCN3	HP:0000007	Autosomal recessive inheritance
8547	FCN3	HP:0002783	Recurrent lower respiratory tract infections
8547	FCN3	HP:0002726	Recurrent Staphylococcus aureus infections
8547	FCN3	HP:0002722	Recurrent abscess formation
8547	FCN3	HP:0033165	Necrotizing enterocolitis
8547	FCN3	HP:0200043	Verrucae
8550	MAPKAPK5	HP:0001159	Syndactyly
8550	MAPKAPK5	HP:0000076	Vesicoureteral reflux
8550	MAPKAPK5	HP:0000007	Autosomal recessive inheritance
8550	MAPKAPK5	HP:0001320	Cerebellar vermis hypoplasia
8550	MAPKAPK5	HP:0002079	Hypoplasia of the corpus callosum
8550	MAPKAPK5	HP:0010442	Polydactyly
8550	MAPKAPK5	HP:0002198	Dilated fourth ventricle
8550	MAPKAPK5	HP:0011833	Overhanging nasal tip
8550	MAPKAPK5	HP:0003577	Congenital onset
8550	MAPKAPK5	HP:0002280	Enlarged cisterna magna
8550	MAPKAPK5	HP:0002389	Cavum septum pellucidum
8550	MAPKAPK5	HP:0000639	Nystagmus
8550	MAPKAPK5	HP:0000647	Sclerocornea
8550	MAPKAPK5	HP:0011344	Severe global developmental delay
8550	MAPKAPK5	HP:0004322	Short stature
8550	MAPKAPK5	HP:0006956	Lateral ventricle dilatation
8550	MAPKAPK5	HP:0011555	Double inlet left ventricle
8550	MAPKAPK5	HP:0045075	Sparse eyebrow
8550	MAPKAPK5	HP:0045025	Narrow palpebral fissure
8550	MAPKAPK5	HP:0008070	Sparse hair
8550	MAPKAPK5	HP:0000278	Retrognathia
8550	MAPKAPK5	HP:0000252	Microcephaly
8550	MAPKAPK5	HP:0000218	High palate
8550	MAPKAPK5	HP:0000233	Thin vermilion border
8550	MAPKAPK5	HP:0001508	Failure to thrive
8550	MAPKAPK5	HP:0001518	Small for gestational age
8550	MAPKAPK5	HP:0000365	Hearing impairment
8550	MAPKAPK5	HP:0000341	Narrow forehead
8550	MAPKAPK5	HP:0001643	Patent ductus arteriosus
8550	MAPKAPK5	HP:0001636	Tetralogy of Fallot
8550	MAPKAPK5	HP:0001631	Atrial septal defect
8550	MAPKAPK5	HP:0000518	Cataract
8550	MAPKAPK5	HP:0011220	Prominent forehead
8550	MAPKAPK5	HP:0000543	Optic disc pallor
8556	CDC14A	HP:0000007	Autosomal recessive inheritance
8556	CDC14A	HP:0003577	Congenital onset
8556	CDC14A	HP:0012864	Abnormal sperm morphology
8556	CDC14A	HP:0003251	Male infertility
8556	CDC14A	HP:0012208	Immotile sperm
8556	CDC14A	HP:0000407	Sensorineural hearing impairment
8557	TCAP	HP:0002522	Areflexia of lower limbs
8557	TCAP	HP:0003805	Rimmed vacuoles
8557	TCAP	HP:0000007	Autosomal recessive inheritance
8557	TCAP	HP:0000006	Autosomal dominant inheritance
8557	TCAP	HP:0008994	Proximal muscle weakness in lower limbs
8557	TCAP	HP:0008997	Proximal muscle weakness in upper limbs
8557	TCAP	HP:0008981	Calf muscle hypertrophy
8557	TCAP	HP:0008948	Proximal upper limb amyotrophy
8557	TCAP	HP:0008944	Distal lower limb amyotrophy
8557	TCAP	HP:0100578	Lipoatrophy
8557	TCAP	HP:0003457	EMG abnormality
8557	TCAP	HP:0003581	Adult onset
8557	TCAP	HP:0003551	Difficulty climbing stairs
8557	TCAP	HP:0003560	Muscular dystrophy
8557	TCAP	HP:0003557	Increased variability in muscle fiber diameter
8557	TCAP	HP:0002355	Difficulty walking
8557	TCAP	HP:0009053	Distal lower limb muscle weakness
8557	TCAP	HP:0009046	Difficulty running
8557	TCAP	HP:0009025	Increased connective tissue
8557	TCAP	HP:0009027	Foot dorsiflexor weakness
8557	TCAP	HP:0003198	Myopathy
8557	TCAP	HP:0003236	Elevated circulating creatine kinase concentration
8557	TCAP	HP:0000982	Palmoplantar keratoderma
8557	TCAP	HP:0001644	Dilated cardiomyopathy
8557	TCAP	HP:0001639	Hypertrophic cardiomyopathy
8557	TCAP	HP:0000407	Sensorineural hearing impairment
8557	TCAP	HP:0001716	Wolff-Parkinson-White syndrome
8557	TCAP	HP:0001712	Left ventricular hypertrophy
8557	TCAP	HP:0001874	Abnormality of neutrophils
8558	CDK10	HP:0001290	Generalized hypotonia
8558	CDK10	HP:0001250	Seizure
8558	CDK10	HP:0001249	Intellectual disability
8558	CDK10	HP:0001263	Global developmental delay
8558	CDK10	HP:0007413	Nevus flammeus of the forehead
8558	CDK10	HP:0008897	Postnatal growth retardation
8558	CDK10	HP:0006191	Deep palmar crease
8558	CDK10	HP:0025300	Malar rash
8558	CDK10	HP:0000007	Autosomal recessive inheritance
8558	CDK10	HP:0002705	High, narrow palate
8558	CDK10	HP:0002079	Hypoplasia of the corpus callosum
8558	CDK10	HP:0002136	Broad-based gait
8558	CDK10	HP:0003577	Congenital onset
8558	CDK10	HP:0200055	Small hand
8558	CDK10	HP:0000664	Synophrys
8558	CDK10	HP:0004325	Decreased body weight
8558	CDK10	HP:0004322	Short stature
8558	CDK10	HP:0000750	Delayed speech and language development
8558	CDK10	HP:0000960	Sacral dimple
8558	CDK10	HP:0040195	Decreased head circumference
8558	CDK10	HP:0000286	Epicanthus
8558	CDK10	HP:0030084	Clinodactyly
8558	CDK10	HP:0001572	Macrodontia
8558	CDK10	HP:0000252	Microcephaly
8558	CDK10	HP:0000248	Brachycephaly
8558	CDK10	HP:0000219	Thin upper lip vermilion
8558	CDK10	HP:0001511	Intrauterine growth retardation
8558	CDK10	HP:0000377	Abnormal pinna morphology
8558	CDK10	HP:0002937	Hemivertebrae
8558	CDK10	HP:0000358	Posteriorly rotated ears
8558	CDK10	HP:0000369	Low-set ears
8558	CDK10	HP:0000343	Long philtrum
8558	CDK10	HP:0000319	Smooth philtrum
8558	CDK10	HP:0000316	Hypertelorism
8558	CDK10	HP:0000331	Short chin
8558	CDK10	HP:0000325	Triangular face
8558	CDK10	HP:0000307	Pointed chin
8558	CDK10	HP:0001631	Atrial septal defect
8558	CDK10	HP:0005280	Depressed nasal bridge
8558	CDK10	HP:0000494	Downslanted palpebral fissures
8558	CDK10	HP:0000455	Broad nasal tip
8558	CDK10	HP:0000473	Torticollis
8558	CDK10	HP:0001763	Pes planus
8558	CDK10	HP:0000431	Wide nasal bridge
8558	CDK10	HP:0000506	Telecanthus
8560	DEGS1	HP:0001272	Cerebellar atrophy
8560	DEGS1	HP:0001250	Seizure
8560	DEGS1	HP:0001260	Dysarthria
8560	DEGS1	HP:0001263	Global developmental delay
8560	DEGS1	HP:0001257	Spasticity
8560	DEGS1	HP:0007366	Atrophy/Degeneration affecting the brainstem
8560	DEGS1	HP:0002518	Abnormal periventricular white matter morphology
8560	DEGS1	HP:0003828	Variable expressivity
8560	DEGS1	HP:0002510	Spastic tetraplegia
8560	DEGS1	HP:0001371	Flexion contracture
8560	DEGS1	HP:0001332	Dystonia
8560	DEGS1	HP:0001344	Absent speech
8560	DEGS1	HP:0000007	Autosomal recessive inheritance
8560	DEGS1	HP:0001310	Dysmetria
8560	DEGS1	HP:0002650	Scoliosis
8560	DEGS1	HP:0003487	Babinski sign
8560	DEGS1	HP:0002191	Progressive spasticity
8560	DEGS1	HP:0011968	Feeding difficulties
8560	DEGS1	HP:0003676	Progressive
8560	DEGS1	HP:0007108	Demyelinating peripheral neuropathy
8560	DEGS1	HP:0000639	Nystagmus
8560	DEGS1	HP:0011344	Severe global developmental delay
8560	DEGS1	HP:0000762	Decreased nerve conduction velocity
8560	DEGS1	HP:0000750	Delayed speech and language development
8560	DEGS1	HP:0011471	Gastrostomy tube feeding in infancy
8560	DEGS1	HP:0040131	Abnormal motor nerve conduction velocity
8560	DEGS1	HP:0001508	Failure to thrive
8560	DEGS1	HP:0005484	Secondary microcephaly
8565	YARS1	HP:0001133	Constriction of peripheral visual field
8565	YARS1	HP:0002460	Distal muscle weakness
8565	YARS1	HP:0002474	Expressive language delay
8565	YARS1	HP:0008619	Bilateral sensorineural hearing impairment
8565	YARS1	HP:0100806	Sepsis
8565	YARS1	HP:0001274	Agenesis of corpus callosum
8565	YARS1	HP:0001284	Areflexia
8565	YARS1	HP:0001252	Hypotonia
8565	YARS1	HP:0007401	Macular atrophy
8565	YARS1	HP:0001397	Hepatic steatosis
8565	YARS1	HP:0001394	Cirrhosis
8565	YARS1	HP:0001382	Joint hypermobility
8565	YARS1	HP:0000007	Autosomal recessive inheritance
8565	YARS1	HP:0000006	Autosomal dominant inheritance
8565	YARS1	HP:0002611	Cholestatic liver disease
8565	YARS1	HP:0001414	Microvesicular hepatic steatosis
8565	YARS1	HP:0002716	Lymphadenopathy
8565	YARS1	HP:0002013	Vomiting
8565	YARS1	HP:0005948	Multiple pulmonary cysts
8565	YARS1	HP:0002079	Hypoplasia of the corpus callosum
8565	YARS1	HP:0003383	Onion bulb formation
8565	YARS1	HP:0002155	Hypertriglyceridemia
8565	YARS1	HP:0003484	Upper limb muscle weakness
8565	YARS1	HP:0002151	Increased serum lactate
8565	YARS1	HP:0003450	Axonal regeneration
8565	YARS1	HP:0002119	Ventriculomegaly
8565	YARS1	HP:0003448	Decreased sensory nerve conduction velocity
8565	YARS1	HP:0003431	Decreased motor nerve conduction velocity
8565	YARS1	HP:0002197	Generalized-onset seizure
8565	YARS1	HP:0002194	Delayed gross motor development
8565	YARS1	HP:0003593	Infantile onset
8565	YARS1	HP:0002240	Hepatomegaly
8565	YARS1	HP:0003693	Distal amyotrophy
8565	YARS1	HP:0002355	Difficulty walking
8565	YARS1	HP:0033454	Tube feeding
8565	YARS1	HP:0000639	Nystagmus
8565	YARS1	HP:0001943	Hypoglycemia
8565	YARS1	HP:0001903	Anemia
8565	YARS1	HP:0009046	Difficulty running
8565	YARS1	HP:0000662	Nyctalopia
8565	YARS1	HP:0001998	Neonatal hypoglycemia
8565	YARS1	HP:0012715	Profound hearing impairment
8565	YARS1	HP:0000786	Primary amenorrhea
8565	YARS1	HP:0000286	Epicanthus
8565	YARS1	HP:0000293	Full cheeks
8565	YARS1	HP:0000252	Microcephaly
8565	YARS1	HP:0000218	High palate
8565	YARS1	HP:0001531	Failure to thrive in infancy
8565	YARS1	HP:0001508	Failure to thrive
8565	YARS1	HP:0001510	Growth delay
8565	YARS1	HP:0006577	Macronodular cirrhosis
8565	YARS1	HP:0006579	Prolonged neonatal jaundice
8565	YARS1	HP:0002936	Distal sensory impairment
8565	YARS1	HP:0001629	Ventricular septal defect
8565	YARS1	HP:0001622	Premature birth
8565	YARS1	HP:0000308	Microretrognathia
8565	YARS1	HP:0030319	Weakness of facial musculature
8565	YARS1	HP:0001738	Exocrine pancreatic insufficiency
8565	YARS1	HP:0005280	Depressed nasal bridge
8565	YARS1	HP:0000490	Deeply set eye
8565	YARS1	HP:0030237	Hand muscle weakness
8565	YARS1	HP:0001748	Polysplenia
8565	YARS1	HP:0001747	Accessory spleen
8565	YARS1	HP:0001744	Splenomegaly
8565	YARS1	HP:0001760	Abnormal foot morphology
8565	YARS1	HP:0000431	Wide nasal bridge
8565	YARS1	HP:0025709	Intermediate young adult onset
8565	YARS1	HP:0011232	Infra-orbital fold
8566	PDXK	HP:0001284	Areflexia
8566	PDXK	HP:0000007	Autosomal recessive inheritance
8566	PDXK	HP:0003676	Progressive
8566	PDXK	HP:0001765	Hammertoe
8566	PDXK	HP:0001761	Pes cavus
8566	PDXK	HP:0000505	Visual impairment
8567	MADD	HP:0007328	Impaired pain sensation
8567	MADD	HP:0032210	Decreased circulating free T3
8567	MADD	HP:0001270	Motor delay
8567	MADD	HP:0001250	Seizure
8567	MADD	HP:0001252	Hypotonia
8567	MADD	HP:0001249	Intellectual disability
8567	MADD	HP:0002553	Highly arched eyebrow
8567	MADD	HP:0003819	Death in childhood
8567	MADD	HP:0000054	Micropenis
8567	MADD	HP:0001357	Plagiocephaly
8567	MADD	HP:0000028	Cryptorchidism
8567	MADD	HP:0000007	Autosomal recessive inheritance
8567	MADD	HP:0002650	Scoliosis
8567	MADD	HP:0001319	Neonatal hypotonia
8567	MADD	HP:0002643	Neonatal respiratory distress
8567	MADD	HP:0000189	Narrow palate
8567	MADD	HP:0025481	Cervical hemivertebrae
8567	MADD	HP:0000160	Narrow mouth
8567	MADD	HP:0002750	Delayed skeletal maturation
8567	MADD	HP:0002024	Malabsorption
8567	MADD	HP:0002028	Chronic diarrhea
8567	MADD	HP:0002015	Dysphagia
8567	MADD	HP:0002007	Frontal bossing
8567	MADD	HP:0003320	C1-C2 subluxation
8567	MADD	HP:0002188	Delayed CNS myelination
8567	MADD	HP:0002162	Low posterior hairline
8567	MADD	HP:0010557	Overlapping fingers
8567	MADD	HP:0002240	Hepatomegaly
8567	MADD	HP:0007018	Attention deficit hyperactivity disorder
8567	MADD	HP:0010627	Anterior pituitary hypoplasia
8567	MADD	HP:0020062	Decreased hemoglobin concentration
8567	MADD	HP:0002353	EEG abnormality
8567	MADD	HP:0010763	Low insertion of columella
8567	MADD	HP:0031861	Decreased heart rate variability
8567	MADD	HP:0011344	Severe global developmental delay
8567	MADD	HP:0011343	Moderate global developmental delay
8567	MADD	HP:0000678	Dental crowding
8567	MADD	HP:0001998	Neonatal hypoglycemia
8567	MADD	HP:0004325	Decreased body weight
8567	MADD	HP:0004322	Short stature
8567	MADD	HP:0004370	Abnormality of temperature regulation
8567	MADD	HP:0012745	Short palpebral fissure
8567	MADD	HP:0000750	Delayed speech and language development
8567	MADD	HP:0000742	Self-mutilation
8567	MADD	HP:0000729	Autistic behavior
8567	MADD	HP:0011421	Death in adolescence
8567	MADD	HP:0003196	Short nose
8567	MADD	HP:0000871	Panhypopituitarism
8567	MADD	HP:0000824	Decreased response to growth hormone stimulation test
8567	MADD	HP:0033078	Decreased circulating free T4 concentration
8567	MADD	HP:0000966	Hypohidrosis
8567	MADD	HP:0000286	Epicanthus
8567	MADD	HP:0000278	Retrognathia
8567	MADD	HP:0000268	Dolichocephaly
8567	MADD	HP:0002808	Kyphosis
8567	MADD	HP:0000218	High palate
8567	MADD	HP:0001561	Polyhydramnios
8567	MADD	HP:0001522	Death in infancy
8567	MADD	HP:0001511	Intrauterine growth retardation
8567	MADD	HP:0000365	Hearing impairment
8567	MADD	HP:0000369	Low-set ears
8567	MADD	HP:0000341	Narrow forehead
8567	MADD	HP:0000343	Long philtrum
8567	MADD	HP:0000337	Broad forehead
8567	MADD	HP:0000348	High forehead
8567	MADD	HP:0000347	Micrognathia
8567	MADD	HP:0000322	Short philtrum
8567	MADD	HP:0000307	Pointed chin
8567	MADD	HP:0006610	Wide intermamillary distance
8567	MADD	HP:0001738	Exocrine pancreatic insufficiency
8567	MADD	HP:0005274	Prominent nasal tip
8567	MADD	HP:0005280	Depressed nasal bridge
8567	MADD	HP:0000486	Strabismus
8567	MADD	HP:0012471	Thick vermilion border
8567	MADD	HP:0000463	Anteverted nares
8567	MADD	HP:0012450	Chronic constipation
8567	MADD	HP:0000470	Short neck
8567	MADD	HP:0012427	Increased femoral anteversion
8567	MADD	HP:0000430	Underdeveloped nasal alae
8567	MADD	HP:0000527	Long eyelashes
8567	MADD	HP:0000522	Alacrima
8567	MADD	HP:0000577	Exotropia
8567	MADD	HP:0000565	Esotropia
8567	MADD	HP:0000540	Hypermetropia
8567	MADD	HP:0012510	Extra-axial cerebrospinal fluid accumulation
8567	MADD	HP:0001873	Thrombocytopenia
8567	MADD	HP:0000545	Myopia
8572	PDLIM4	HP:0000006	Autosomal dominant inheritance
8572	PDLIM4	HP:0000939	Osteoporosis
8573	CASK	HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood
8573	CASK	HP:0007227	Macrogyria
8573	CASK	HP:0010851	EEG with burst suppression
8573	CASK	HP:0010850	EEG with spike-wave complexes
8573	CASK	HP:0009879	Simplified gyral pattern
8573	CASK	HP:0002421	Poor head control
8573	CASK	HP:0001276	Hypertonia
8573	CASK	HP:0001272	Cerebellar atrophy
8573	CASK	HP:0001288	Gait disturbance
8573	CASK	HP:0001250	Seizure
8573	CASK	HP:0001252	Hypotonia
8573	CASK	HP:0001249	Intellectual disability
8573	CASK	HP:0001266	Choreoathetosis
8573	CASK	HP:0001263	Global developmental delay
8573	CASK	HP:0001257	Spasticity
8573	CASK	HP:0007359	Focal-onset seizure
8573	CASK	HP:0002521	Hypsarrhythmia
8573	CASK	HP:0002506	Diffuse cerebral atrophy
8573	CASK	HP:0000070	Ureterocele
8573	CASK	HP:0025336	Delayed ability to sit
8573	CASK	HP:0000054	Micropenis
8573	CASK	HP:0001347	Hyperreflexia
8573	CASK	HP:0001357	Plagiocephaly
8573	CASK	HP:0008897	Postnatal growth retardation
8573	CASK	HP:0008872	Feeding difficulties in infancy
8573	CASK	HP:0001332	Dystonia
8573	CASK	HP:0001324	Muscle weakness
8573	CASK	HP:0001344	Absent speech
8573	CASK	HP:0001337	Tremor
8573	CASK	HP:0001336	Myoclonus
8573	CASK	HP:0001302	Pachygyria
8573	CASK	HP:0002650	Scoliosis
8573	CASK	HP:0001321	Cerebellar hypoplasia
8573	CASK	HP:0001319	Neonatal hypotonia
8573	CASK	HP:0000175	Cleft palate
8573	CASK	HP:0008947	Infantile muscular hypotonia
8573	CASK	HP:0008936	Axial hypotonia
8573	CASK	HP:0012110	Hypoplasia of the pons
8573	CASK	HP:0001423	X-linked dominant inheritance
8573	CASK	HP:0000110	Renal dysplasia
8573	CASK	HP:0001417	X-linked inheritance
8573	CASK	HP:0002027	Abdominal pain
8573	CASK	HP:0002069	Bilateral tonic-clonic seizure
8573	CASK	HP:0002063	Rigidity
8573	CASK	HP:0002079	Hypoplasia of the corpus callosum
8573	CASK	HP:0002120	Cerebral cortical atrophy
8573	CASK	HP:0002121	Generalized non-motor (absence) seizure
8573	CASK	HP:0002131	Episodic ataxia
8573	CASK	HP:0002198	Dilated fourth ventricle
8573	CASK	HP:0008282	Unconjugated hyperbilirubinemia
8573	CASK	HP:0003596	Middle age onset
8573	CASK	HP:0003593	Infantile onset
8573	CASK	HP:0003577	Congenital onset
8573	CASK	HP:0100716	Self-injurious behavior
8573	CASK	HP:0004879	Intermittent hyperventilation
8573	CASK	HP:0011968	Feeding difficulties
8573	CASK	HP:0020082	Heinz bodies
8573	CASK	HP:0004814	Fava bean-induced hemolytic anemia
8573	CASK	HP:0002365	Hypoplasia of the brainstem
8573	CASK	HP:0002360	Sleep disturbance
8573	CASK	HP:0002376	Developmental regression
8573	CASK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
8573	CASK	HP:0002342	Intellectual disability, moderate
8573	CASK	HP:0002353	EEG abnormality
8573	CASK	HP:0007204	Diffuse white matter abnormalities
8573	CASK	HP:0100660	Dyskinesia
8573	CASK	HP:0010819	Atonic seizure
8573	CASK	HP:0010818	Generalized tonic seizure
8573	CASK	HP:0001090	Abnormally large globe
8573	CASK	HP:0003641	Hemoglobinuria
8573	CASK	HP:0003621	Juvenile onset
8573	CASK	HP:0000639	Nystagmus
8573	CASK	HP:0000648	Optic atrophy
8573	CASK	HP:0001974	Leukocytosis
8573	CASK	HP:0001945	Fever
8573	CASK	HP:0001923	Reticulocytosis
8573	CASK	HP:0000609	Optic nerve hypoplasia
8573	CASK	HP:0011344	Severe global developmental delay
8573	CASK	HP:0004325	Decreased body weight
8573	CASK	HP:0004322	Short stature
8573	CASK	HP:0031936	Delayed ability to walk
8573	CASK	HP:0000752	Hyperactivity
8573	CASK	HP:0000729	Autistic behavior
8573	CASK	HP:0010174	Broad phalanx of the toes
8573	CASK	HP:0011463	Childhood onset
8573	CASK	HP:0011462	Young adult onset
8573	CASK	HP:0004447	Poikilocytosis
8573	CASK	HP:0003196	Short nose
8573	CASK	HP:0000826	Precocious puberty
8573	CASK	HP:0000980	Pallor
8573	CASK	HP:0000952	Jaundice
8573	CASK	HP:0000966	Hypohidrosis
8573	CASK	HP:0009381	Short finger
8573	CASK	HP:0000286	Epicanthus
8573	CASK	HP:0000253	Progressive microcephaly
8573	CASK	HP:0000252	Microcephaly
8573	CASK	HP:0000218	High palate
8573	CASK	HP:0001537	Umbilical hernia
8573	CASK	HP:0001508	Failure to thrive
8573	CASK	HP:0001500	Broad finger
8573	CASK	HP:0006579	Prolonged neonatal jaundice
8573	CASK	HP:0000365	Hearing impairment
8573	CASK	HP:0000340	Sloping forehead
8573	CASK	HP:0000343	Long philtrum
8573	CASK	HP:0000337	Broad forehead
8573	CASK	HP:0000347	Micrognathia
8573	CASK	HP:0000319	Smooth philtrum
8573	CASK	HP:0000316	Hypertelorism
8573	CASK	HP:0001629	Ventricular septal defect
8573	CASK	HP:0000300	Oval face
8573	CASK	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
8573	CASK	HP:0011169	Generalized clonic seizure
8573	CASK	HP:0000407	Sensorineural hearing impairment
8573	CASK	HP:0000400	Macrotia
8573	CASK	HP:0005280	Depressed nasal bridge
8573	CASK	HP:0000486	Strabismus
8573	CASK	HP:0000480	Retinal coloboma
8573	CASK	HP:0012469	Infantile spasms
8573	CASK	HP:0000494	Downslanted palpebral fissures
8573	CASK	HP:0000463	Anteverted nares
8573	CASK	HP:0012448	Delayed myelination
8573	CASK	HP:0000455	Broad nasal tip
8573	CASK	HP:0001744	Splenomegaly
8573	CASK	HP:0000431	Wide nasal bridge
8573	CASK	HP:0000426	Prominent nasal bridge
8573	CASK	HP:0011273	Anisocytosis
8573	CASK	HP:0000518	Cataract
8573	CASK	HP:0000505	Visual impairment
8573	CASK	HP:0012554	Absent thumbnail
8573	CASK	HP:0011220	Prominent forehead
8573	CASK	HP:0000567	Chorioretinal coloboma
8573	CASK	HP:0000543	Optic disc pallor
8573	CASK	HP:0000545	Myopia
8575	PRKRA	HP:0002451	Limb dystonia
8575	PRKRA	HP:0007325	Generalized dystonia
8575	PRKRA	HP:0007256	Abnormal pyramidal sign
8575	PRKRA	HP:0001270	Motor delay
8575	PRKRA	HP:0001288	Gait disturbance
8575	PRKRA	HP:0001249	Intellectual disability
8575	PRKRA	HP:0001260	Dysarthria
8575	PRKRA	HP:0002544	Retrocollis
8575	PRKRA	HP:0012049	Laryngeal dystonia
8575	PRKRA	HP:0001347	Hyperreflexia
8575	PRKRA	HP:0000007	Autosomal recessive inheritance
8575	PRKRA	HP:0001300	Parkinsonism
8575	PRKRA	HP:0002015	Dysphagia
8575	PRKRA	HP:0100543	Cognitive impairment
8575	PRKRA	HP:0002067	Bradykinesia
8575	PRKRA	HP:0002062	Morphological abnormality of the pyramidal tract
8575	PRKRA	HP:0002174	Postural tremor
8575	PRKRA	HP:0003676	Progressive
8575	PRKRA	HP:0002317	Unsteady gait
8575	PRKRA	HP:0100660	Dyskinesia
8575	PRKRA	HP:0009763	Limb pain
8575	PRKRA	HP:0002310	Orofacial dyskinesia
8575	PRKRA	HP:0003621	Juvenile onset
8575	PRKRA	HP:0004305	Involuntary movements
8575	PRKRA	HP:0000750	Delayed speech and language development
8575	PRKRA	HP:0011463	Childhood onset
8575	PRKRA	HP:0001618	Dysphonia
8575	PRKRA	HP:0000473	Torticollis
8575	PRKRA	HP:0025708	Early young adult onset
8575	PRKRA	HP:0012514	Lower limb pain
8600	TNFSF11	HP:0007209	Facial paralysis
8600	TNFSF11	HP:0001293	Cranial nerve compression
8600	TNFSF11	HP:0001250	Seizure
8600	TNFSF11	HP:0001249	Intellectual disability
8600	TNFSF11	HP:0001363	Craniosynostosis
8600	TNFSF11	HP:0000007	Autosomal recessive inheritance
8600	TNFSF11	HP:0001337	Tremor
8600	TNFSF11	HP:0002653	Bone pain
8600	TNFSF11	HP:0006335	Persistence of primary teeth
8600	TNFSF11	HP:0006323	Premature loss of primary teeth
8600	TNFSF11	HP:0007626	Mandibular osteomyelitis
8600	TNFSF11	HP:0002757	Recurrent fractures
8600	TNFSF11	HP:0002754	Osteomyelitis
8600	TNFSF11	HP:0001433	Hepatosplenomegaly
8600	TNFSF11	HP:0002716	Lymphadenopathy
8600	TNFSF11	HP:0002092	Pulmonary arterial hypertension
8600	TNFSF11	HP:0005930	Abnormal epiphysis morphology
8600	TNFSF11	HP:0002148	Hypophosphatemia
8600	TNFSF11	HP:0002104	Apnea
8600	TNFSF11	HP:0010543	Opsoclonus
8600	TNFSF11	HP:0003593	Infantile onset
8600	TNFSF11	HP:0002240	Hepatomegaly
8600	TNFSF11	HP:0002257	Chronic rhinitis
8600	TNFSF11	HP:0002205	Recurrent respiratory infections
8600	TNFSF11	HP:0010719	Abnormality of hair texture
8600	TNFSF11	HP:0003623	Neonatal onset
8600	TNFSF11	HP:0006824	Cranial nerve paralysis
8600	TNFSF11	HP:0000639	Nystagmus
8600	TNFSF11	HP:0000649	Abnormality of visual evoked potentials
8600	TNFSF11	HP:0000648	Optic atrophy
8600	TNFSF11	HP:0001978	Extramedullary hematopoiesis
8600	TNFSF11	HP:0000618	Blindness
8600	TNFSF11	HP:0001939	Abnormality of metabolism/homeostasis
8600	TNFSF11	HP:0001903	Anemia
8600	TNFSF11	HP:0000684	Delayed eruption of teeth
8600	TNFSF11	HP:0000670	Carious teeth
8600	TNFSF11	HP:0003034	Diaphyseal sclerosis
8600	TNFSF11	HP:0004370	Abnormality of temperature regulation
8600	TNFSF11	HP:0004349	Reduced bone mineral density
8600	TNFSF11	HP:0000772	Abnormal rib morphology
8600	TNFSF11	HP:0100022	Abnormality of movement
8600	TNFSF11	HP:0000774	Narrow chest
8600	TNFSF11	HP:0004437	Cranial hyperostosis
8600	TNFSF11	HP:0004415	Pulmonary artery stenosis
8600	TNFSF11	HP:0004499	Chronic rhinitis due to narrow nasal airway
8600	TNFSF11	HP:0000980	Pallor
8600	TNFSF11	HP:0000978	Bruising susceptibility
8600	TNFSF11	HP:0000944	Abnormal metaphysis morphology
8600	TNFSF11	HP:0008066	Abnormal blistering of the skin
8600	TNFSF11	HP:0000256	Macrocephaly
8600	TNFSF11	HP:0000238	Hydrocephalus
8600	TNFSF11	HP:0002857	Genu valgum
8600	TNFSF11	HP:0001510	Growth delay
8600	TNFSF11	HP:0007807	Optic nerve compression
8600	TNFSF11	HP:0000388	Otitis media
8600	TNFSF11	HP:0002901	Hypocalcemia
8600	TNFSF11	HP:0006487	Bowing of the long bones
8600	TNFSF11	HP:0000365	Hearing impairment
8600	TNFSF11	HP:0011002	Osteopetrosis
8600	TNFSF11	HP:0001641	Abnormal pulmonary valve morphology
8600	TNFSF11	HP:0000303	Mandibular prognathia
8600	TNFSF11	HP:0030328	Decreased osteoclast count
8600	TNFSF11	HP:0001744	Splenomegaly
8600	TNFSF11	HP:0000505	Visual impairment
8600	TNFSF11	HP:0001873	Thrombocytopenia
8600	TNFSF11	HP:0001876	Pancytopenia
8604	SLC25A12	HP:0001182	Tapered finger
8604	SLC25A12	HP:0002421	Poor head control
8604	SLC25A12	HP:0001250	Seizure
8604	SLC25A12	HP:0001252	Hypotonia
8604	SLC25A12	HP:0001263	Global developmental delay
8604	SLC25A12	HP:0001257	Spasticity
8604	SLC25A12	HP:0003803	Type 1 muscle fiber predominance
8604	SLC25A12	HP:0001344	Absent speech
8604	SLC25A12	HP:0000007	Autosomal recessive inheritance
8604	SLC25A12	HP:0001336	Myoclonus
8604	SLC25A12	HP:0000189	Narrow palate
8604	SLC25A12	HP:0008936	Axial hypotonia
8604	SLC25A12	HP:0002705	High, narrow palate
8604	SLC25A12	HP:0002151	Increased serum lactate
8604	SLC25A12	HP:0002133	Status epilepticus
8604	SLC25A12	HP:0002104	Apnea
8604	SLC25A12	HP:0002197	Generalized-onset seizure
8604	SLC25A12	HP:0003593	Infantile onset
8604	SLC25A12	HP:0003577	Congenital onset
8604	SLC25A12	HP:0002230	Generalized hirsutism
8604	SLC25A12	HP:0003557	Increased variability in muscle fiber diameter
8604	SLC25A12	HP:0200134	Epileptic encephalopathy
8604	SLC25A12	HP:0007034	Generalized hyperreflexia
8604	SLC25A12	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
8604	SLC25A12	HP:0002307	Drooling
8604	SLC25A12	HP:0006829	Severe muscular hypotonia
8604	SLC25A12	HP:0006808	Cerebral hypomyelination
8604	SLC25A12	HP:0011335	Frontal hirsutism
8604	SLC25A12	HP:0031936	Delayed ability to walk
8604	SLC25A12	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
8604	SLC25A12	HP:0011451	Primary microcephaly
8604	SLC25A12	HP:0000954	Single transverse palmar crease
8604	SLC25A12	HP:0032656	Febrile status epilepticus
8604	SLC25A12	HP:0001561	Polyhydramnios
8604	SLC25A12	HP:0000389	Chronic otitis media
8604	SLC25A12	HP:0005235	Jejunal atresia
8604	SLC25A12	HP:0001667	Right ventricular hypertrophy
8604	SLC25A12	HP:0032792	Tonic seizure
8604	SLC25A12	HP:0000316	Hypertelorism
8604	SLC25A12	HP:0000300	Oval face
8604	SLC25A12	HP:0032989	Delayed ability to roll over
8604	SLC25A12	HP:0032988	Persistent head lag
8604	SLC25A12	HP:0005484	Secondary microcephaly
8604	SLC25A12	HP:0005469	Flat occiput
8604	SLC25A12	HP:0011261	Darwin tubercle of helix
8621	CDK13	HP:0002472	Small cerebral cortex
8621	CDK13	HP:0001274	Agenesis of corpus callosum
8621	CDK13	HP:0001270	Motor delay
8621	CDK13	HP:0001250	Seizure
8621	CDK13	HP:0001252	Hypotonia
8621	CDK13	HP:0001249	Intellectual disability
8621	CDK13	HP:0001263	Global developmental delay
8621	CDK13	HP:0002572	Episodic vomiting
8621	CDK13	HP:0007413	Nevus flammeus of the forehead
8621	CDK13	HP:0002553	Highly arched eyebrow
8621	CDK13	HP:0025336	Delayed ability to sit
8621	CDK13	HP:0001382	Joint hypermobility
8621	CDK13	HP:0001357	Plagiocephaly
8621	CDK13	HP:0000006	Autosomal dominant inheritance
8621	CDK13	HP:0002650	Scoliosis
8621	CDK13	HP:0000160	Narrow mouth
8621	CDK13	HP:0002714	Downturned corners of mouth
8621	CDK13	HP:0002020	Gastroesophageal reflux
8621	CDK13	HP:0002019	Constipation
8621	CDK13	HP:0005989	Redundant neck skin
8621	CDK13	HP:0002079	Hypoplasia of the corpus callosum
8621	CDK13	HP:0002121	Generalized non-motor (absence) seizure
8621	CDK13	HP:0002162	Low posterior hairline
8621	CDK13	HP:0010536	Central sleep apnea
8621	CDK13	HP:0011856	Pica
8621	CDK13	HP:0003577	Congenital onset
8621	CDK13	HP:0002212	Curly hair
8621	CDK13	HP:0011968	Feeding difficulties
8621	CDK13	HP:0000691	Microdontia
8621	CDK13	HP:0004322	Short stature
8621	CDK13	HP:0006970	Periventricular leukomalacia
8621	CDK13	HP:0031936	Delayed ability to walk
8621	CDK13	HP:0012745	Short palpebral fissure
8621	CDK13	HP:0000750	Delayed speech and language development
8621	CDK13	HP:0000717	Autism
8621	CDK13	HP:0003298	Spina bifida occulta
8621	CDK13	HP:0000286	Epicanthus
8621	CDK13	HP:0000269	Prominent occiput
8621	CDK13	HP:0030084	Clinodactyly
8621	CDK13	HP:0000252	Microcephaly
8621	CDK13	HP:0000219	Thin upper lip vermilion
8621	CDK13	HP:0000215	Thick upper lip vermilion
8621	CDK13	HP:0001561	Polyhydramnios
8621	CDK13	HP:0000233	Thin vermilion border
8621	CDK13	HP:0000200	Short lingual frenulum
8621	CDK13	HP:0001511	Intrauterine growth retardation
8621	CDK13	HP:0012385	Camptodactyly
8621	CDK13	HP:0000396	Overfolded helix
8621	CDK13	HP:0000356	Abnormality of the outer ear
8621	CDK13	HP:0000358	Posteriorly rotated ears
8621	CDK13	HP:0000369	Low-set ears
8621	CDK13	HP:0000319	Smooth philtrum
8621	CDK13	HP:0000316	Hypertelorism
8621	CDK13	HP:0000322	Short philtrum
8621	CDK13	HP:0000324	Facial asymmetry
8621	CDK13	HP:0001629	Ventricular septal defect
8621	CDK13	HP:0001631	Atrial septal defect
8621	CDK13	HP:0006610	Wide intermamillary distance
8621	CDK13	HP:0000486	Strabismus
8621	CDK13	HP:0000414	Bulbous nose
8621	CDK13	HP:0000431	Wide nasal bridge
8621	CDK13	HP:0000426	Prominent nasal bridge
8621	CDK13	HP:0000506	Telecanthus
8621	CDK13	HP:0000508	Ptosis
8621	CDK13	HP:0000582	Upslanted palpebral fissure
8621	CDK13	HP:0000581	Blepharophimosis
8621	CDK13	HP:0000574	Thick eyebrow
8622	PDE8B	HP:0003701	Proximal muscle weakness
8622	PDE8B	HP:0001288	Gait disturbance
8622	PDE8B	HP:0001260	Dysarthria
8622	PDE8B	HP:0025383	Dorsocervical fat pad
8622	PDE8B	HP:0001397	Hepatic steatosis
8622	PDE8B	HP:0012030	Increased urinary cortisol level
8622	PDE8B	HP:0001350	Slurred speech
8622	PDE8B	HP:0001348	Brisk reflexes
8622	PDE8B	HP:0007552	Abnormal subcutaneous fat tissue distribution
8622	PDE8B	HP:0002659	Increased susceptibility to fractures
8622	PDE8B	HP:0001337	Tremor
8622	PDE8B	HP:0000006	Autosomal dominant inheritance
8622	PDE8B	HP:0500011	Moon facies
8622	PDE8B	HP:0002015	Dysphagia
8622	PDE8B	HP:0005978	Type II diabetes mellitus
8622	PDE8B	HP:0100543	Cognitive impairment
8622	PDE8B	HP:0002067	Bradykinesia
8622	PDE8B	HP:0002063	Rigidity
8622	PDE8B	HP:0002075	Dysdiadochokinesis
8622	PDE8B	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
8622	PDE8B	HP:0008221	Adrenal hyperplasia
8622	PDE8B	HP:0003596	Middle age onset
8622	PDE8B	HP:0100754	Mania
8622	PDE8B	HP:0007039	Symmetric lesions of the basal ganglia
8622	PDE8B	HP:0010619	Fibroadenoma of the breast
8622	PDE8B	HP:0001050	Plethora
8622	PDE8B	HP:0002395	Lower limb hyperreflexia
8622	PDE8B	HP:0001065	Striae distensae
8622	PDE8B	HP:0001061	Acne
8622	PDE8B	HP:0002375	Hypokinesia
8622	PDE8B	HP:0001007	Hirsutism
8622	PDE8B	HP:0002354	Memory impairment
8622	PDE8B	HP:0003677	Slowly progressive
8622	PDE8B	HP:0010788	Testicular neoplasm
8622	PDE8B	HP:0007126	Proximal amyotrophy
8622	PDE8B	HP:0031845	Abnormal libido
8622	PDE8B	HP:0005585	Spotty hyperpigmentation
8622	PDE8B	HP:0001952	Glucose intolerance
8622	PDE8B	HP:0004324	Increased body weight
8622	PDE8B	HP:0003077	Hyperlipidemia
8622	PDE8B	HP:0012743	Abdominal obesity
8622	PDE8B	HP:0100022	Abnormality of movement
8622	PDE8B	HP:0000716	Depression
8622	PDE8B	HP:0000712	Emotional lability
8622	PDE8B	HP:0000725	Psychotic episodes
8622	PDE8B	HP:0000708	Atypical behavior
8622	PDE8B	HP:0000787	Nephrolithiasis
8622	PDE8B	HP:0003118	Increased circulating cortisol level
8622	PDE8B	HP:0000858	Irregular menstruation
8622	PDE8B	HP:0000819	Diabetes mellitus
8622	PDE8B	HP:0000822	Hypertension
8622	PDE8B	HP:0000978	Bruising susceptibility
8622	PDE8B	HP:0000963	Thin skin
8622	PDE8B	HP:0000939	Osteoporosis
8622	PDE8B	HP:0040140	Degeneration of the striatum
8622	PDE8B	HP:0011672	Cardiac myxoma
8622	PDE8B	HP:0001596	Alopecia
8622	PDE8B	HP:0001580	Pigmented micronodular adrenocortical disease
8622	PDE8B	HP:0002893	Pituitary adenoma
8622	PDE8B	HP:0001510	Growth delay
8622	PDE8B	HP:0002910	Elevated hepatic transaminase
8622	PDE8B	HP:0002920	Decreased circulating ACTH level
8622	PDE8B	HP:0030428	Cutaneous myxoma
8625	RFXANK	HP:0002583	Colitis
8625	RFXANK	HP:0001260	Dysarthria
8625	RFXANK	HP:0025347	Decreased circulating beta-2-microglobulin level
8625	RFXANK	HP:0000010	Recurrent urinary tract infections
8625	RFXANK	HP:0000007	Autosomal recessive inheritance
8625	RFXANK	HP:0002783	Recurrent lower respiratory tract infections
8625	RFXANK	HP:0002788	Recurrent upper respiratory tract infections
8625	RFXANK	HP:0002718	Recurrent bacterial infections
8625	RFXANK	HP:0002728	Chronic mucocutaneous candidiasis
8625	RFXANK	HP:0002726	Recurrent Staphylococcus aureus infections
8625	RFXANK	HP:0002024	Malabsorption
8625	RFXANK	HP:0030991	Sclerosing cholangitis
8625	RFXANK	HP:0002014	Diarrhea
8625	RFXANK	HP:0002066	Gait ataxia
8625	RFXANK	HP:0004798	Recurrent infection of the gastrointestinal tract
8625	RFXANK	HP:0002205	Recurrent respiratory infections
8625	RFXANK	HP:0200124	Chronic hepatitis due to cryptosporidium infection
8625	RFXANK	HP:0007041	Chronic lymphocytic meningitis
8625	RFXANK	HP:0002383	Infectious encephalitis
8625	RFXANK	HP:0001080	Biliary tract abnormality
8625	RFXANK	HP:0001973	Autoimmune thrombocytopenia
8625	RFXANK	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
8625	RFXANK	HP:0001999	Abnormal facial shape
8625	RFXANK	HP:0004313	Decreased circulating antibody level
8625	RFXANK	HP:0004385	Protracted diarrhea
8625	RFXANK	HP:0011473	Villous atrophy
8625	RFXANK	HP:0004432	Agammaglobulinemia
8625	RFXANK	HP:0004429	Recurrent viral infections
8625	RFXANK	HP:0003139	Panhypogammaglobulinemia
8625	RFXANK	HP:0000988	Skin rash
8625	RFXANK	HP:0031390	Reduced MHC II surface expression
8625	RFXANK	HP:0031394	Abnormal CD4:CD8 ratio
8625	RFXANK	HP:0000246	Sinusitis
8625	RFXANK	HP:0001508	Failure to thrive
8625	RFXANK	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
8625	RFXANK	HP:0002841	Recurrent fungal infections
8625	RFXANK	HP:0012384	Rhinitis
8625	RFXANK	HP:0006562	Viral hepatitis
8625	RFXANK	HP:0000371	Acute otitis media
8625	RFXANK	HP:0030151	Cholangitis
8625	RFXANK	HP:0002960	Autoimmunity
8625	RFXANK	HP:0002965	Cutaneous anergy
8625	RFXANK	HP:0005386	Recurrent protozoan infections
8625	RFXANK	HP:0005354	Lack of T cell function
8625	RFXANK	HP:0005353	Recurrent herpes
8625	RFXANK	HP:0005368	Abnormality of humoral immunity
8625	RFXANK	HP:0005407	Decreased proportion of CD4-positive helper T cells
8625	RFXANK	HP:0005403	T lymphocytopenia
8625	RFXANK	HP:0005401	Recurrent candida infections
8625	RFXANK	HP:0001890	Autoimmune hemolytic anemia
8625	RFXANK	HP:0001876	Pancytopenia
8625	RFXANK	HP:0001875	Neutropenia
8626	TP63	HP:0001171	Split hand
8626	TP63	HP:0001159	Syndactyly
8626	TP63	HP:0003765	Psoriasiform dermatitis
8626	TP63	HP:0009937	Facial hirsutism
8626	TP63	HP:0001199	Triphalangeal thumb
8626	TP63	HP:0008572	External ear malformation
8626	TP63	HP:0008551	Microtia
8626	TP63	HP:0003764	Nevus
8626	TP63	HP:0001249	Intellectual disability
8626	TP63	HP:0002561	Absent nipple
8626	TP63	HP:0002557	Hypoplastic nipples
8626	TP63	HP:0002558	Supernumerary nipple
8626	TP63	HP:0002566	Intestinal malrotation
8626	TP63	HP:0006101	Finger syndactyly
8626	TP63	HP:0008736	Hypoplasia of penis
8626	TP63	HP:0031088	Vaginal dryness
8626	TP63	HP:0008678	Renal hypoplasia/aplasia
8626	TP63	HP:0008661	Urethral stenosis
8626	TP63	HP:0000081	Duplicated collecting system
8626	TP63	HP:0000068	Urethral atresia
8626	TP63	HP:0000059	Hypoplastic labia majora
8626	TP63	HP:0000076	Vesicoureteral reflux
8626	TP63	HP:0000072	Hydroureter
8626	TP63	HP:0000070	Ureterocele
8626	TP63	HP:0000069	Abnormality of the ureter
8626	TP63	HP:0000044	Hypogonadotropic hypogonadism
8626	TP63	HP:0000039	Epispadias
8626	TP63	HP:0000054	Micropenis
8626	TP63	HP:0000056	Abnormality of the clitoris
8626	TP63	HP:0000047	Hypospadias
8626	TP63	HP:0000021	Megacystis
8626	TP63	HP:0000023	Inguinal hernia
8626	TP63	HP:0000015	Bladder diverticulum
8626	TP63	HP:0000028	Cryptorchidism
8626	TP63	HP:0007565	Multiple cafe-au-lait spots
8626	TP63	HP:0008872	Feeding difficulties in infancy
8626	TP63	HP:0007513	Generalized hypopigmentation
8626	TP63	HP:0007500	Decreased number of sweat glands
8626	TP63	HP:0410011	Abnormality of masticatory muscle
8626	TP63	HP:0410005	Cleft hard palate
8626	TP63	HP:0007476	Anhidrotic ectodermal dysplasia
8626	TP63	HP:0007455	Adermatoglyphia
8626	TP63	HP:0001328	Specific learning disability
8626	TP63	HP:0000010	Recurrent urinary tract infections
8626	TP63	HP:0002665	Lymphoma
8626	TP63	HP:0000006	Autosomal dominant inheritance
8626	TP63	HP:0002607	Bowel incontinence
8626	TP63	HP:0000198	Absence of Stensen duct
8626	TP63	HP:0000193	Bifid uvula
8626	TP63	HP:0012165	Oligodactyly
8626	TP63	HP:0000164	Abnormality of the dentition
8626	TP63	HP:0000160	Narrow mouth
8626	TP63	HP:0000175	Cleft palate
8626	TP63	HP:0000145	Transverse vaginal septum
8626	TP63	HP:0001480	Freckling
8626	TP63	HP:0000151	Aplasia of the uterus
8626	TP63	HP:0006357	Premature loss of permanent teeth
8626	TP63	HP:0006342	Peg-shaped maxillary lateral incisors
8626	TP63	HP:0007678	Lacrimal duct stenosis
8626	TP63	HP:0006332	Supernumerary maxillary incisor
8626	TP63	HP:0410030	Cleft lip
8626	TP63	HP:0006292	Abnormality of dental eruption
8626	TP63	HP:0006297	Enamel hypoplasia
8626	TP63	HP:0002793	Abnormal pattern of respiration
8626	TP63	HP:0000126	Hydronephrosis
8626	TP63	HP:0000110	Renal dysplasia
8626	TP63	HP:0000104	Renal agenesis
8626	TP63	HP:0002025	Anal stenosis
8626	TP63	HP:0002033	Poor suck
8626	TP63	HP:0004691	2-3 toe syndactyly
8626	TP63	HP:0002015	Dysphagia
8626	TP63	HP:0011819	Submucous cleft soft palate
8626	TP63	HP:0100533	Inflammatory abnormality of the eye
8626	TP63	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
8626	TP63	HP:0010463	Aplasia of the ovary
8626	TP63	HP:0009473	Joint contracture of the hand
8626	TP63	HP:0011939	3-4 finger cutaneous syndactyly
8626	TP63	HP:0009623	Proximal placement of thumb
8626	TP63	HP:0009601	Aplasia/Hypoplasia of the thumb
8626	TP63	HP:0002164	Nail dysplasia
8626	TP63	HP:0003593	Infantile onset
8626	TP63	HP:0003577	Congenital onset
8626	TP63	HP:0002217	Slow-growing hair
8626	TP63	HP:0002215	Sparse axillary hair
8626	TP63	HP:0002235	Pili canaliculi
8626	TP63	HP:0002232	Patchy alopecia
8626	TP63	HP:0002231	Sparse body hair
8626	TP63	HP:0002225	Sparse pubic hair
8626	TP63	HP:0002213	Fine hair
8626	TP63	HP:0002209	Sparse scalp hair
8626	TP63	HP:0002208	Coarse hair
8626	TP63	HP:0200141	Small, conical teeth
8626	TP63	HP:0100783	Breast aplasia
8626	TP63	HP:0008404	Nail dystrophy
8626	TP63	HP:0200153	Agenesis of lateral incisor
8626	TP63	HP:0100798	Fingernail dysplasia
8626	TP63	HP:0100797	Toenail dysplasia
8626	TP63	HP:0200136	Oral-pharyngeal dysphagia
8626	TP63	HP:0002287	Progressive alopecia
8626	TP63	HP:0002286	Fair hair
8626	TP63	HP:0002293	Alopecia of scalp
8626	TP63	HP:0200020	Corneal erosion
8626	TP63	HP:0001092	Absent lacrimal punctum
8626	TP63	HP:0009804	Tooth agenesis
8626	TP63	HP:0200042	Skin ulcer
8626	TP63	HP:0009775	Amniotic constriction ring
8626	TP63	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
8626	TP63	HP:0009755	Ankyloblepharon
8626	TP63	HP:0004209	Clinodactyly of the 5th finger
8626	TP63	HP:0009088	Speech articulation difficulties
8626	TP63	HP:0000635	Blue irides
8626	TP63	HP:0001964	Aplasia/Hypoplasia of metatarsal bones
8626	TP63	HP:0000632	Lacrimation abnormality
8626	TP63	HP:0000613	Photophobia
8626	TP63	HP:0000620	Dacryocystitis
8626	TP63	HP:0000621	Entropion
8626	TP63	HP:0000698	Conical tooth
8626	TP63	HP:0000682	Abnormal dental enamel morphology
8626	TP63	HP:0000679	Taurodontia
8626	TP63	HP:0000677	Oligodontia
8626	TP63	HP:0000691	Microdontia
8626	TP63	HP:0000689	Dental malocclusion
8626	TP63	HP:0000687	Widely spaced teeth
8626	TP63	HP:0000653	Sparse eyelashes
8626	TP63	HP:0000670	Carious teeth
8626	TP63	HP:0000668	Hypodontia
8626	TP63	HP:0004322	Short stature
8626	TP63	HP:0004334	Dermal atrophy
8626	TP63	HP:0004395	Malnutrition
8626	TP63	HP:0004378	Abnormality of the anus
8626	TP63	HP:0000750	Delayed speech and language development
8626	TP63	HP:0000708	Atypical behavior
8626	TP63	HP:0000707	Abnormality of the nervous system
8626	TP63	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
8626	TP63	HP:0011470	Nasogastric tube feeding in infancy
8626	TP63	HP:0011463	Childhood onset
8626	TP63	HP:0011438	Maternal teratogenic exposure
8626	TP63	HP:0000778	Hypoplasia of the thymus
8626	TP63	HP:0000786	Primary amenorrhea
8626	TP63	HP:0040115	Abnormal Eustachian tube morphology
8626	TP63	HP:0005709	2-3 toe cutaneous syndactyly
8626	TP63	HP:0003187	Breast hypoplasia
8626	TP63	HP:0000863	Central diabetes insipidus
8626	TP63	HP:0000830	Anterior hypopituitarism
8626	TP63	HP:0012814	Bilateral breast hypoplasia
8626	TP63	HP:0100336	Bilateral cleft lip
8626	TP63	HP:0100337	Bilateral cleft palate
8626	TP63	HP:0100334	Unilateral cleft palate
8626	TP63	HP:0100335	Non-midline cleft lip
8626	TP63	HP:0000824	Decreased response to growth hormone stimulation test
8626	TP63	HP:0010294	Palate fistula
8626	TP63	HP:0004502	Bilateral choanal atresia
8626	TP63	HP:0045075	Sparse eyebrow
8626	TP63	HP:0004590	Hypoplastic sacrum
8626	TP63	HP:0000995	Melanocytic nevus
8626	TP63	HP:0010311	Aplasia/Hypoplasia of the breasts
8626	TP63	HP:0100267	Lip pit
8626	TP63	HP:0100257	Ectrodactyly
8626	TP63	HP:0000992	Cutaneous photosensitivity
8626	TP63	HP:0000982	Palmoplantar keratoderma
8626	TP63	HP:0000958	Dry skin
8626	TP63	HP:0000953	Hyperpigmentation of the skin
8626	TP63	HP:0000968	Ectodermal dysplasia
8626	TP63	HP:0000964	Eczema
8626	TP63	HP:0000966	Hypohidrosis
8626	TP63	HP:0000963	Thin skin
8626	TP63	HP:0000962	Hyperkeratosis
8626	TP63	HP:0008070	Sparse hair
8626	TP63	HP:0008065	Aplasia/Hypoplasia of the skin
8626	TP63	HP:0007717	Chronic irritative conjunctivitis
8626	TP63	HP:0001597	Abnormality of the nail
8626	TP63	HP:0001596	Alopecia
8626	TP63	HP:0001592	Selective tooth agenesis
8626	TP63	HP:0000271	Abnormality of the face
8626	TP63	HP:0000272	Malar flattening
8626	TP63	HP:0005105	Abnormal nasal morphology
8626	TP63	HP:0030056	Uncombable hair
8626	TP63	HP:0001572	Macrodontia
8626	TP63	HP:0000220	Velopharyngeal insufficiency
8626	TP63	HP:0000217	Xerostomia
8626	TP63	HP:0001545	Anteriorly placed anus
8626	TP63	HP:0001561	Polyhydramnios
8626	TP63	HP:0001537	Umbilical hernia
8626	TP63	HP:0001539	Omphalocele
8626	TP63	HP:0000202	Orofacial cleft
8626	TP63	HP:0000204	Cleft upper lip
8626	TP63	HP:0002836	Bladder exstrophy
8626	TP63	HP:0001518	Small for gestational age
8626	TP63	HP:0012385	Camptodactyly
8626	TP63	HP:0011044	Abnormal number of permanent teeth
8626	TP63	HP:0000389	Chronic otitis media
8626	TP63	HP:0005216	Impaired mastication
8626	TP63	HP:0001611	Hypernasal speech
8626	TP63	HP:0006482	Abnormality of dental morphology
8626	TP63	HP:0001696	Situs inversus totalis
8626	TP63	HP:0000365	Hearing impairment
8626	TP63	HP:0000359	Abnormality of the inner ear
8626	TP63	HP:0000370	Abnormality of the middle ear
8626	TP63	HP:0000348	High forehead
8626	TP63	HP:0031469	Low self esteem
8626	TP63	HP:0001643	Patent ductus arteriosus
8626	TP63	HP:0000327	Hypoplasia of the maxilla
8626	TP63	HP:0001629	Ventricular septal defect
8626	TP63	HP:0000300	Oval face
8626	TP63	HP:0006610	Wide intermamillary distance
8626	TP63	HP:0000498	Blepharitis
8626	TP63	HP:0004050	Absent hand
8626	TP63	HP:0005324	Disturbance of facial expression
8626	TP63	HP:0001739	Abnormal nasopharynx morphology
8626	TP63	HP:0000407	Sensorineural hearing impairment
8626	TP63	HP:0000403	Recurrent otitis media
8626	TP63	HP:0000405	Conductive hearing impairment
8626	TP63	HP:0000402	Stenosis of the external auditory canal
8626	TP63	HP:0005280	Depressed nasal bridge
8626	TP63	HP:0000491	Keratitis
8626	TP63	HP:0001792	Small nail
8626	TP63	HP:0001795	Hyperconvex nail
8626	TP63	HP:0000460	Narrow nose
8626	TP63	HP:0001798	Anonychia
8626	TP63	HP:0001770	Toe syndactyly
8626	TP63	HP:0000437	Depressed nasal tip
8626	TP63	HP:0000453	Choanal atresia
8626	TP63	HP:0000419	Abnormal nasal septum morphology
8626	TP63	HP:0000411	Protruding ear
8626	TP63	HP:0000413	Atresia of the external auditory canal
8626	TP63	HP:0001762	Talipes equinovarus
8626	TP63	HP:0000431	Wide nasal bridge
8626	TP63	HP:0000430	Underdeveloped nasal alae
8626	TP63	HP:0000426	Prominent nasal bridge
8626	TP63	HP:0006709	Aplasia/Hypoplasia of the nipples
8626	TP63	HP:0000526	Aniridia
8626	TP63	HP:0001822	Hallux valgus
8626	TP63	HP:0000509	Conjunctivitis
8626	TP63	HP:0001839	Split foot
8626	TP63	HP:0000508	Ptosis
8626	TP63	HP:0001805	Onychogryposis
8626	TP63	HP:0001803	Nail pits
8626	TP63	HP:0000581	Blepharophimosis
8626	TP63	HP:0000579	Nasolacrimal duct obstruction
8626	TP63	HP:0000561	Absent eyelashes
8626	TP63	HP:0000574	Thick eyebrow
8626	TP63	HP:0000564	Lacrimal duct atresia
8629	JRK	HP:0001249	Intellectual disability
8629	JRK	HP:0000020	Urinary incontinence
8629	JRK	HP:0001328	Specific learning disability
8629	JRK	HP:0000153	Abnormality of the mouth
8629	JRK	HP:0002069	Bilateral tonic-clonic seizure
8629	JRK	HP:0002121	Generalized non-motor (absence) seizure
8629	JRK	HP:0002133	Status epilepticus
8629	JRK	HP:0002197	Generalized-onset seizure
8629	JRK	HP:0010522	Dyslexia
8629	JRK	HP:0007018	Attention deficit hyperactivity disorder
8629	JRK	HP:0007000	Morning myoclonic jerks
8629	JRK	HP:0002392	EEG with polyspike wave complexes
8629	JRK	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
8629	JRK	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
8629	JRK	HP:0007207	Photosensitive tonic-clonic seizure
8629	JRK	HP:0010794	Impaired visuospatial constructive cognition
8629	JRK	HP:0006961	Jerky head movements
8629	JRK	HP:0000739	Anxiety
8629	JRK	HP:0000716	Depression
8629	JRK	HP:0000718	Aggressive behavior
8629	JRK	HP:0045084	Limb myoclonus
8629	JRK	HP:0000980	Pallor
8629	JRK	HP:0007738	Uncontrolled eye movements
8629	JRK	HP:0002883	Hyperventilation
8629	JRK	HP:0031469	Low self esteem
8629	JRK	HP:0011147	Typical absence seizure
8629	JRK	HP:0011150	Myoclonic absence seizure
8629	JRK	HP:0030218	Punding
8629	JRK	HP:0000496	Abnormality of eye movement
8629	JRK	HP:0012433	Abnormal social behavior
8632	DNAH17	HP:0000007	Autosomal recessive inheritance
8632	DNAH17	HP:0032558	Absent sperm flagella
8632	DNAH17	HP:0032559	Short sperm flagella
8632	DNAH17	HP:0032560	Coiled sperm flagella
8632	DNAH17	HP:0032562	Tapered sperm head
8632	DNAH17	HP:0011462	Young adult onset
8632	DNAH17	HP:0000798	Oligospermia
8632	DNAH17	HP:0003251	Male infertility
8632	DNAH17	HP:0012207	Reduced sperm motility
8635	RNASET2	HP:0002465	Poor speech
8635	RNASET2	HP:0001250	Seizure
8635	RNASET2	HP:0001251	Ataxia
8635	RNASET2	HP:0001263	Global developmental delay
8635	RNASET2	HP:0001257	Spasticity
8635	RNASET2	HP:0002514	Cerebral calcification
8635	RNASET2	HP:0001332	Dystonia
8635	RNASET2	HP:0000007	Autosomal recessive inheritance
8635	RNASET2	HP:0002119	Ventriculomegaly
8635	RNASET2	HP:0003593	Infantile onset
8635	RNASET2	HP:0007042	Focal white matter lesions
8635	RNASET2	HP:0002352	Leukoencephalopathy
8635	RNASET2	HP:0003677	Slowly progressive
8635	RNASET2	HP:0002305	Athetosis
8635	RNASET2	HP:0000639	Nystagmus
8635	RNASET2	HP:0011344	Severe global developmental delay
8635	RNASET2	HP:0011400	Abnormal CNS myelination
8635	RNASET2	HP:0000750	Delayed speech and language development
8635	RNASET2	HP:0000295	Doll-like facies
8635	RNASET2	HP:0000252	Microcephaly
8635	RNASET2	HP:0000407	Sensorineural hearing impairment
8642	DCHS1	HP:0001159	Syndactyly
8642	DCHS1	HP:0010864	Intellectual disability, severe
8642	DCHS1	HP:0008551	Microtia
8642	DCHS1	HP:0009879	Simplified gyral pattern
8642	DCHS1	HP:0001290	Generalized hypotonia
8642	DCHS1	HP:0001274	Agenesis of corpus callosum
8642	DCHS1	HP:0001252	Hypotonia
8642	DCHS1	HP:0001251	Ataxia
8642	DCHS1	HP:0001249	Intellectual disability
8642	DCHS1	HP:0001263	Global developmental delay
8642	DCHS1	HP:0032388	Periventricular nodular heterotopia
8642	DCHS1	HP:0003831	Typified by age-related disease onset
8642	DCHS1	HP:0000089	Renal hypoplasia
8642	DCHS1	HP:0001388	Joint laxity
8642	DCHS1	HP:0000047	Hypospadias
8642	DCHS1	HP:0008872	Feeding difficulties in infancy
8642	DCHS1	HP:0032409	Subcortical band heterotopia
8642	DCHS1	HP:0000007	Autosomal recessive inheritance
8642	DCHS1	HP:0000006	Autosomal dominant inheritance
8642	DCHS1	HP:0001302	Pachygyria
8642	DCHS1	HP:0002652	Skeletal dysplasia
8642	DCHS1	HP:0001320	Cerebellar vermis hypoplasia
8642	DCHS1	HP:0002650	Scoliosis
8642	DCHS1	HP:0000160	Narrow mouth
8642	DCHS1	HP:0008947	Infantile muscular hypotonia
8642	DCHS1	HP:0002779	Tracheomalacia
8642	DCHS1	HP:0002778	Abnormal tracheal morphology
8642	DCHS1	HP:0002714	Downturned corners of mouth
8642	DCHS1	HP:0002025	Anal stenosis
8642	DCHS1	HP:0002023	Anal atresia
8642	DCHS1	HP:0004689	Short fourth metatarsal
8642	DCHS1	HP:0011800	Midface retrusion
8642	DCHS1	HP:0002079	Hypoplasia of the corpus callosum
8642	DCHS1	HP:0008197	Absence of pubertal development
8642	DCHS1	HP:0002119	Ventriculomegaly
8642	DCHS1	HP:0010554	Cutaneous finger syndactyly
8642	DCHS1	HP:0010537	Wide cranial sutures
8642	DCHS1	HP:0003577	Congenital onset
8642	DCHS1	HP:0100716	Self-injurious behavior
8642	DCHS1	HP:0200138	Bilateral choanal atresia/stenosis
8642	DCHS1	HP:0002282	Gray matter heterotopia
8642	DCHS1	HP:0011968	Feeding difficulties
8642	DCHS1	HP:0002342	Intellectual disability, moderate
8642	DCHS1	HP:0001004	Lymphedema
8642	DCHS1	HP:0010804	Tented upper lip vermilion
8642	DCHS1	HP:0010044	Short 4th metacarpal
8642	DCHS1	HP:0000689	Dental malocclusion
8642	DCHS1	HP:0001999	Abnormal facial shape
8642	DCHS1	HP:0006989	Dysplastic corpus callosum
8642	DCHS1	HP:0004322	Short stature
8642	DCHS1	HP:0003048	Radial head subluxation
8642	DCHS1	HP:0012745	Short palpebral fissure
8642	DCHS1	HP:0011471	Gastrostomy tube feeding in infancy
8642	DCHS1	HP:0000774	Narrow chest
8642	DCHS1	HP:0040079	Irregular dentition
8642	DCHS1	HP:0000894	Short clavicles
8642	DCHS1	HP:0000960	Sacral dimple
8642	DCHS1	HP:0000938	Osteopenia
8642	DCHS1	HP:0000286	Epicanthus
8642	DCHS1	HP:0000260	Wide anterior fontanel
8642	DCHS1	HP:0000272	Malar flattening
8642	DCHS1	HP:0002825	Caudal appendage
8642	DCHS1	HP:0030084	Clinodactyly
8642	DCHS1	HP:0000239	Large fontanelles
8642	DCHS1	HP:0000252	Microcephaly
8642	DCHS1	HP:0000218	High palate
8642	DCHS1	HP:0001545	Anteriorly placed anus
8642	DCHS1	HP:0001510	Growth delay
8642	DCHS1	HP:0012385	Camptodactyly
8642	DCHS1	HP:0000341	Narrow forehead
8642	DCHS1	HP:0000347	Micrognathia
8642	DCHS1	HP:0000316	Hypertelorism
8642	DCHS1	HP:0001642	Pulmonic stenosis
8642	DCHS1	HP:0000327	Hypoplasia of the maxilla
8642	DCHS1	HP:0001653	Mitral regurgitation
8642	DCHS1	HP:0001627	Abnormal heart morphology
8642	DCHS1	HP:0001634	Mitral valve prolapse
8642	DCHS1	HP:0000407	Sensorineural hearing impairment
8642	DCHS1	HP:0000405	Conductive hearing impairment
8642	DCHS1	HP:0000413	Atresia of the external auditory canal
8642	DCHS1	HP:0001760	Abnormal foot morphology
8642	DCHS1	HP:0001762	Talipes equinovarus
8642	DCHS1	HP:0000431	Wide nasal bridge
8642	DCHS1	HP:0000508	Ptosis
8642	DCHS1	HP:0000581	Blepharophimosis
8643	PTCH2	HP:0001156	Brachydactyly
8643	PTCH2	HP:0001166	Arachnodactyly
8643	PTCH2	HP:0001144	Orbital cyst
8643	PTCH2	HP:0002414	Spina bifida
8643	PTCH2	HP:0001270	Motor delay
8643	PTCH2	HP:0001249	Intellectual disability
8643	PTCH2	HP:0002514	Cerebral calcification
8643	PTCH2	HP:0003829	Typified by incomplete penetrance
8643	PTCH2	HP:0000044	Hypogonadotropic hypogonadism
8643	PTCH2	HP:0025318	Ovarian carcinoma
8643	PTCH2	HP:0000028	Cryptorchidism
8643	PTCH2	HP:0002664	Neoplasm
8643	PTCH2	HP:0002671	Basal cell carcinoma
8643	PTCH2	HP:0000007	Autosomal recessive inheritance
8643	PTCH2	HP:0000006	Autosomal dominant inheritance
8643	PTCH2	HP:0002650	Scoliosis
8643	PTCH2	HP:0000175	Cleft palate
8643	PTCH2	HP:0001428	Somatic mutation
8643	PTCH2	HP:0002751	Kyphoscoliosis
8643	PTCH2	HP:0002007	Frontal bossing
8643	PTCH2	HP:0010442	Polydactyly
8643	PTCH2	HP:0004795	Hamartomatous stomach polyps
8643	PTCH2	HP:0010609	Skin tags
8643	PTCH2	HP:0010603	Odontogenic keratocysts of the jaw
8643	PTCH2	HP:0009729	Cardiac rhabdomyoma
8643	PTCH2	HP:0009730	Rhabdomyoma
8643	PTCH2	HP:0009650	Short distal phalanx of the thumb
8643	PTCH2	HP:0010618	Ovarian fibroma
8643	PTCH2	HP:0010617	Cardiac fibroma
8643	PTCH2	HP:0010610	Palmar pits
8643	PTCH2	HP:0010612	Plantar pits
8643	PTCH2	HP:0001056	Milia
8643	PTCH2	HP:0200021	Down-sloping shoulders
8643	PTCH2	HP:0008422	Vertebral wedging
8643	PTCH2	HP:0004280	Irregular ossification of hand bones
8643	PTCH2	HP:0000612	Iris coloboma
8643	PTCH2	HP:0010044	Short 4th metacarpal
8643	PTCH2	HP:0000670	Carious teeth
8643	PTCH2	HP:0000766	Abnormal sternum morphology
8643	PTCH2	HP:0000773	Short ribs
8643	PTCH2	HP:0004408	Abnormality of the sense of smell
8643	PTCH2	HP:0000912	Sprengel anomaly
8643	PTCH2	HP:0000892	Bifid ribs
8643	PTCH2	HP:0000995	Melanocytic nevus
8643	PTCH2	HP:0005815	Supernumerary ribs
8643	PTCH2	HP:0000286	Epicanthus
8643	PTCH2	HP:0000283	Broad face
8643	PTCH2	HP:0000280	Coarse facial features
8643	PTCH2	HP:0000256	Macrocephaly
8643	PTCH2	HP:0000242	Parietal bossing
8643	PTCH2	HP:0000238	Hydrocephalus
8643	PTCH2	HP:0000248	Brachycephaly
8643	PTCH2	HP:0002885	Medulloblastoma
8643	PTCH2	HP:0000204	Cleft upper lip
8643	PTCH2	HP:0002937	Hemivertebrae
8643	PTCH2	HP:0002948	Vertebral fusion
8643	PTCH2	HP:0000316	Hypertelorism
8643	PTCH2	HP:0000303	Mandibular prognathia
8643	PTCH2	HP:0000486	Strabismus
8643	PTCH2	HP:0000464	Abnormality of the neck
8643	PTCH2	HP:0000431	Wide nasal bridge
8643	PTCH2	HP:0005449	Bridged sella turcica
8643	PTCH2	HP:0005462	Calcification of falx cerebri
8643	PTCH2	HP:0000518	Cataract
8643	PTCH2	HP:0000506	Telecanthus
8643	PTCH2	HP:0000501	Glaucoma
8643	PTCH2	HP:0000568	Microphthalmia
8647	ABCB11	HP:0003819	Death in childhood
8647	ABCB11	HP:0001394	Cirrhosis
8647	ABCB11	HP:0000007	Autosomal recessive inheritance
8647	ABCB11	HP:0001337	Tremor
8647	ABCB11	HP:0002643	Neonatal respiratory distress
8647	ABCB11	HP:0002630	Fat malabsorption
8647	ABCB11	HP:0012164	Asterixis
8647	ABCB11	HP:0001406	Intrahepatic cholestasis
8647	ABCB11	HP:0001402	Hepatocellular carcinoma
8647	ABCB11	HP:0031248	Palmar pruritus
8647	ABCB11	HP:0002027	Abdominal pain
8647	ABCB11	HP:0002014	Diarrhea
8647	ABCB11	HP:0030900	Pruritus on foot
8647	ABCB11	HP:0003593	Infantile onset
8647	ABCB11	HP:0002240	Hepatomegaly
8647	ABCB11	HP:0100785	Insomnia
8647	ABCB11	HP:0001046	Intermittent jaundice
8647	ABCB11	HP:0100602	Preeclampsia
8647	ABCB11	HP:0025031	Abnormality of the digestive system
8647	ABCB11	HP:0001081	Cholelithiasis
8647	ABCB11	HP:0001082	Cholecystitis
8647	ABCB11	HP:0012689	Abnormal pineal melatonin secretion
8647	ABCB11	HP:0004322	Short stature
8647	ABCB11	HP:0000716	Depression
8647	ABCB11	HP:0030782	Abnormal circulating interleukin concentration
8647	ABCB11	HP:0003155	Elevated circulating alkaline phosphatase concentration
8647	ABCB11	HP:0000821	Hypothyroidism
8647	ABCB11	HP:0000989	Pruritus
8647	ABCB11	HP:0000988	Skin rash
8647	ABCB11	HP:0000952	Jaundice
8647	ABCB11	HP:0012202	Increased serum bile acid concentration
8647	ABCB11	HP:0001541	Ascites
8647	ABCB11	HP:0001508	Failure to thrive
8647	ABCB11	HP:0001518	Small for gestational age
8647	ABCB11	HP:0002910	Elevated hepatic transaminase
8647	ABCB11	HP:0002908	Conjugated hyperbilirubinemia
8647	ABCB11	HP:0002904	Hyperbilirubinemia
8647	ABCB11	HP:0002960	Autoimmunity
8647	ABCB11	HP:0001622	Premature birth
8647	ABCB11	HP:0001732	Abnormality of the pancreas
8647	ABCB11	HP:0012420	Meconium stained amniotic fluid
8647	ABCB11	HP:0001744	Splenomegaly
8651	SOCS1	HP:0033631	Spondylitis
8651	SOCS1	HP:0000099	Glomerulonephritis
8651	SOCS1	HP:0000006	Autosomal dominant inheritance
8651	SOCS1	HP:0002608	Celiac disease
8651	SOCS1	HP:0012189	Hodgkin lymphoma
8651	SOCS1	HP:0002716	Lymphadenopathy
8651	SOCS1	HP:0002725	Systemic lupus erythematosus
8651	SOCS1	HP:0003493	Antinuclear antibody positivity
8651	SOCS1	HP:0003596	Middle age onset
8651	SOCS1	HP:0002240	Hepatomegaly
8651	SOCS1	HP:0002205	Recurrent respiratory infections
8651	SOCS1	HP:0004844	Coombs-positive hemolytic anemia
8651	SOCS1	HP:0100646	Thyroiditis
8651	SOCS1	HP:0003621	Juvenile onset
8651	SOCS1	HP:0020151	Anti-dsDNA antibody positivity
8651	SOCS1	HP:0001973	Autoimmune thrombocytopenia
8651	SOCS1	HP:0011463	Childhood onset
8651	SOCS1	HP:0011462	Young adult onset
8651	SOCS1	HP:0033028	Anti-U1 ribonucleoprotein antibody positivity
8651	SOCS1	HP:0001744	Splenomegaly
8651	SOCS1	HP:0030384	Decreased proportion of marginal zone B cells
8651	SOCS1	HP:0030388	Decreased proportion of class-switched memory B cells
8653	DDX3Y	HP:0008734	Decreased testicular size
8653	DDX3Y	HP:0008669	Abnormal spermatogenesis
8653	DDX3Y	HP:0000028	Cryptorchidism
8653	DDX3Y	HP:0000027	Azoospermia
8653	DDX3Y	HP:0001450	Y-linked inheritance
8653	DDX3Y	HP:0011961	Non-obstructive azoospermia
8653	DDX3Y	HP:0011462	Young adult onset
8653	DDX3Y	HP:0000798	Oligospermia
8653	DDX3Y	HP:0003251	Male infertility
8659	ALDH4A1	HP:0002490	Increased CSF lactate
8659	ALDH4A1	HP:0001298	Encephalopathy
8659	ALDH4A1	HP:0001289	Confusion
8659	ALDH4A1	HP:0001284	Areflexia
8659	ALDH4A1	HP:0001250	Seizure
8659	ALDH4A1	HP:0001249	Intellectual disability
8659	ALDH4A1	HP:0001263	Global developmental delay
8659	ALDH4A1	HP:0000083	Renal insufficiency
8659	ALDH4A1	HP:0001345	Psychotic mentation
8659	ALDH4A1	HP:0000007	Autosomal recessive inheritance
8659	ALDH4A1	HP:0003348	Hyperalaninemia
8659	ALDH4A1	HP:0002027	Abdominal pain
8659	ALDH4A1	HP:0003326	Myalgia
8659	ALDH4A1	HP:0002014	Diarrhea
8659	ALDH4A1	HP:0002015	Dysphagia
8659	ALDH4A1	HP:0003394	Muscle spasm
8659	ALDH4A1	HP:0002154	Hyperglycinemia
8659	ALDH4A1	HP:0002133	Status epilepticus
8659	ALDH4A1	HP:0002197	Generalized-onset seizure
8659	ALDH4A1	HP:0003546	Exercise intolerance
8659	ALDH4A1	HP:0008358	Hyperprolinemia
8659	ALDH4A1	HP:0011968	Feeding difficulties
8659	ALDH4A1	HP:0008326	Reduced circulating vitamin B6 level
8659	ALDH4A1	HP:0002360	Sleep disturbance
8659	ALDH4A1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
8659	ALDH4A1	HP:0002317	Unsteady gait
8659	ALDH4A1	HP:0010819	Atonic seizure
8659	ALDH4A1	HP:0009830	Peripheral neuropathy
8659	ALDH4A1	HP:0009088	Speech articulation difficulties
8659	ALDH4A1	HP:0011342	Mild global developmental delay
8659	ALDH4A1	HP:0003080	Hydroxyprolinuria
8659	ALDH4A1	HP:0000738	Hallucinations
8659	ALDH4A1	HP:0000739	Anxiety
8659	ALDH4A1	HP:0000736	Short attention span
8659	ALDH4A1	HP:0000750	Delayed speech and language development
8659	ALDH4A1	HP:0000716	Depression
8659	ALDH4A1	HP:0000718	Aggressive behavior
8659	ALDH4A1	HP:0000729	Autistic behavior
8659	ALDH4A1	HP:0000708	Atypical behavior
8659	ALDH4A1	HP:0003108	Hyperglycinuria
8659	ALDH4A1	HP:0003137	Prolinuria
8659	ALDH4A1	HP:0012379	Abnormal circulating enzyme concentration or activity
8659	ALDH4A1	HP:0002936	Distal sensory impairment
8659	ALDH4A1	HP:0002922	Increased CSF protein concentration
8659	ALDH4A1	HP:0002921	Abnormal cerebrospinal fluid morphology
8659	ALDH4A1	HP:0011199	EEG with generalized sharp slow waves
8659	ALDH4A1	HP:0011152	Early onset absence seizures
8659	ALDH4A1	HP:0000496	Abnormality of eye movement
8659	ALDH4A1	HP:0012432	Chronic fatigue
8659	ALDH4A1	HP:0012402	Increased urine alpha-ketoglutarate concentration
8659	ALDH4A1	HP:0000511	Vertical supranuclear gaze palsy
8659	ALDH4A1	HP:0000597	Ophthalmoparesis
8659	ALDH4A1	HP:0012534	Dysesthesia
8660	IRS2	HP:0000006	Autosomal dominant inheritance
8660	IRS2	HP:0005978	Type II diabetes mellitus
8660	IRS2	HP:0003584	Late onset
8660	IRS2	HP:0031819	Increased waist to hip ratio
8660	IRS2	HP:0000855	Insulin resistance
8665	EIF3F	HP:0001250	Seizure
8665	EIF3F	HP:0001252	Hypotonia
8665	EIF3F	HP:0001263	Global developmental delay
8665	EIF3F	HP:0025336	Delayed ability to sit
8665	EIF3F	HP:0001344	Absent speech
8665	EIF3F	HP:0000007	Autosomal recessive inheritance
8665	EIF3F	HP:0003593	Infantile onset
8665	EIF3F	HP:0003577	Congenital onset
8665	EIF3F	HP:0002360	Sleep disturbance
8665	EIF3F	HP:0002376	Developmental regression
8665	EIF3F	HP:0003623	Neonatal onset
8665	EIF3F	HP:0000639	Nystagmus
8665	EIF3F	HP:0004322	Short stature
8665	EIF3F	HP:0031936	Delayed ability to walk
8665	EIF3F	HP:0000750	Delayed speech and language development
8665	EIF3F	HP:0000709	Psychosis
8665	EIF3F	HP:0000252	Microcephaly
8665	EIF3F	HP:0002858	Meningioma
8665	EIF3F	HP:0000358	Posteriorly rotated ears
8665	EIF3F	HP:0000407	Sensorineural hearing impairment
8665	EIF3F	HP:0000486	Strabismus
8665	EIF3F	HP:0001763	Pes planus
8665	EIF3F	HP:0000589	Coloboma
8671	SLC4A4	HP:0001249	Intellectual disability
8671	SLC4A4	HP:0410288	Hyperamylasemia
8671	SLC4A4	HP:0002514	Cerebral calcification
8671	SLC4A4	HP:0000007	Autosomal recessive inheritance
8671	SLC4A4	HP:0002049	Proximal renal tubular acidosis
8671	SLC4A4	HP:0032066	Decreased serum bicarbonate concentration
8671	SLC4A4	HP:0004910	Bicarbonate-wasting renal tubular acidosis
8671	SLC4A4	HP:0005546	Increased red cell osmotic resistance
8671	SLC4A4	HP:4000010	Impaired renal tubular reabsorption of bicarbonate
8671	SLC4A4	HP:0001942	Metabolic acidosis
8671	SLC4A4	HP:0001995	Hyperchloremic acidosis
8671	SLC4A4	HP:0004322	Short stature
8671	SLC4A4	HP:0011463	Childhood onset
8671	SLC4A4	HP:0001510	Growth delay
8671	SLC4A4	HP:0002900	Hypokalemia
8671	SLC4A4	HP:0025708	Early young adult onset
8671	SLC4A4	HP:0000518	Cataract
8671	SLC4A4	HP:0000501	Glaucoma
8671	SLC4A4	HP:0000585	Band keratopathy
8675	STX16	HP:0001156	Brachydactyly
8675	STX16	HP:0003745	Sporadic
8675	STX16	HP:0003761	Calcinosis
8675	STX16	HP:0003739	Myoclonic spasms
8675	STX16	HP:0001265	Hyporeflexia
8675	STX16	HP:0012049	Laryngeal dystonia
8675	STX16	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses
8675	STX16	HP:0000006	Autosomal dominant inheritance
8675	STX16	HP:0006297	Enamel hypoplasia
8675	STX16	HP:0002094	Dyspnea
8675	STX16	HP:0003394	Muscle spasm
8675	STX16	HP:0003472	Hypocalcemic tetany
8675	STX16	HP:0003456	Low urinary cyclic AMP response to PTH administration
8675	STX16	HP:0002199	Hypocalcemic seizures
8675	STX16	HP:0008227	Pituitary resistance to thyroid hormone
8675	STX16	HP:0003401	Paresthesia
8675	STX16	HP:0100749	Chest pain
8675	STX16	HP:0100660	Dyskinesia
8675	STX16	HP:0010766	Ectopic calcification
8675	STX16	HP:0000639	Nystagmus
8675	STX16	HP:0010049	Short metacarpal
8675	STX16	HP:0000684	Delayed eruption of teeth
8675	STX16	HP:0004322	Short stature
8675	STX16	HP:0003034	Diaphyseal sclerosis
8675	STX16	HP:0000737	Irritability
8675	STX16	HP:0000739	Anxiety
8675	STX16	HP:0000716	Depression
8675	STX16	HP:0011458	Abdominal symptom
8675	STX16	HP:0003165	Elevated circulating parathyroid hormone level
8675	STX16	HP:0000852	Pseudohypoparathyroidism
8675	STX16	HP:0000824	Decreased response to growth hormone stimulation test
8675	STX16	HP:0005700	Increased bone density with cystic changes
8675	STX16	HP:0000293	Full cheeks
8675	STX16	HP:0030057	Autoimmune antibody positivity
8675	STX16	HP:0001513	Obesity
8675	STX16	HP:0002905	Hyperphosphatemia
8675	STX16	HP:0002901	Hypocalcemia
8675	STX16	HP:0011001	Increased bone mineral density
8675	STX16	HP:0000311	Round face
8675	STX16	HP:0001657	Prolonged QT interval
8675	STX16	HP:0005280	Depressed nasal bridge
8675	STX16	HP:0000470	Short neck
8675	STX16	HP:0000518	Cataract
8675	STX16	HP:0000509	Conjunctivitis
8676	STX11	HP:0001250	Seizure
8676	STX11	HP:0002583	Colitis
8676	STX11	HP:0001252	Hypotonia
8676	STX11	HP:0001263	Global developmental delay
8676	STX11	HP:0001259	Coma
8676	STX11	HP:0002500	Abnormal cerebral white matter morphology
8676	STX11	HP:0000007	Autosomal recessive inheritance
8676	STX11	HP:0002611	Cholestatic liver disease
8676	STX11	HP:0012178	Reduced natural killer cell activity
8676	STX11	HP:0012156	Hemophagocytosis
8676	STX11	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
8676	STX11	HP:0001410	Decreased liver function
8676	STX11	HP:0002716	Lymphadenopathy
8676	STX11	HP:0002086	Abnormality of the respiratory system
8676	STX11	HP:0002155	Hypertriglyceridemia
8676	STX11	HP:0011900	Hypofibrinogenemia
8676	STX11	HP:0003593	Infantile onset
8676	STX11	HP:0002240	Hepatomegaly
8676	STX11	HP:0002383	Infectious encephalitis
8676	STX11	HP:0001019	Erythroderma
8676	STX11	HP:0009830	Peripheral neuropathy
8676	STX11	HP:0001945	Fever
8676	STX11	HP:0001954	Recurrent fever
8676	STX11	HP:0001903	Anemia
8676	STX11	HP:0004302	Functional motor deficit
8676	STX11	HP:0004313	Decreased circulating antibody level
8676	STX11	HP:0003073	Hypoalbuminemia
8676	STX11	HP:0000707	Abnormality of the nervous system
8676	STX11	HP:0011463	Childhood onset
8676	STX11	HP:0030783	Increased circulating interleukin 6 concentration
8676	STX11	HP:0003281	Increased circulating ferritin concentration
8676	STX11	HP:0003256	Abnormality of the coagulation cascade
8676	STX11	HP:0000979	Purpura
8676	STX11	HP:0000978	Bruising susceptibility
8676	STX11	HP:0000988	Skin rash
8676	STX11	HP:0000952	Jaundice
8676	STX11	HP:0000969	Edema
8676	STX11	HP:0000967	Petechiae
8676	STX11	HP:0040186	Maculopapular exanthema
8676	STX11	HP:0012229	CSF pleocytosis
8676	STX11	HP:0012211	Abnormal renal physiology
8676	STX11	HP:0031364	Ecchymosis
8676	STX11	HP:0002910	Elevated hepatic transaminase
8676	STX11	HP:0002958	Immune dysregulation
8676	STX11	HP:0000407	Sensorineural hearing impairment
8676	STX11	HP:0011118	Abnormality of tumor necrosis factor secretion
8676	STX11	HP:0011121	Abnormality of skin morphology
8676	STX11	HP:0011112	Abnormality of serum cytokine level
8676	STX11	HP:0001744	Splenomegaly
8676	STX11	HP:0000509	Conjunctivitis
8676	STX11	HP:0030356	Increased circulating interferon-gamma concentration
8676	STX11	HP:0001873	Thrombocytopenia
8676	STX11	HP:0001875	Neutropenia
8694	DGAT1	HP:0000007	Autosomal recessive inheritance
8694	DGAT1	HP:0002014	Diarrhea
8694	DGAT1	HP:0002013	Vomiting
8694	DGAT1	HP:0011848	Abdominal colic
8694	DGAT1	HP:0002243	Protein-losing enteropathy
8694	DGAT1	HP:0003623	Neonatal onset
8694	DGAT1	HP:0003077	Hyperlipidemia
8694	DGAT1	HP:0003073	Hypoalbuminemia
8694	DGAT1	HP:0011473	Villous atrophy
8694	DGAT1	HP:0003124	Hypercholesterolemia
8694	DGAT1	HP:0001508	Failure to thrive
8701	DNAH11	HP:0025177	Peribronchovascular interstitial thickening
8701	DNAH11	HP:0002566	Intestinal malrotation
8701	DNAH11	HP:0001217	Clubbing
8701	DNAH11	HP:0000007	Autosomal recessive inheritance
8701	DNAH11	HP:0002643	Neonatal respiratory distress
8701	DNAH11	HP:0000119	Abnormality of the genitourinary system
8701	DNAH11	HP:0032543	Lithoptysis
8701	DNAH11	HP:0031245	Productive cough
8701	DNAH11	HP:0002011	Morphological central nervous system abnormality
8701	DNAH11	HP:0002091	Restrictive ventilatory defect
8701	DNAH11	HP:0100582	Nasal polyposis
8701	DNAH11	HP:0002119	Ventriculomegaly
8701	DNAH11	HP:0002110	Bronchiectasis
8701	DNAH11	HP:0008222	Female infertility
8701	DNAH11	HP:0002257	Chronic rhinitis
8701	DNAH11	HP:0100750	Atelectasis
8701	DNAH11	HP:0032016	Abnormal sputum
8701	DNAH11	HP:0011947	Respiratory tract infection
8701	DNAH11	HP:0010772	Anomalous pulmonary venous return
8701	DNAH11	HP:0030680	Abnormality of cardiovascular system morphology
8701	DNAH11	HP:0012735	Cough
8701	DNAH11	HP:0000750	Delayed speech and language development
8701	DNAH11	HP:0011463	Childhood onset
8701	DNAH11	HP:0000924	Abnormality of the skeletal system
8701	DNAH11	HP:0011539	Atrial situs ambiguous
8701	DNAH11	HP:0011535	Abnormal atrial arrangement
8701	DNAH11	HP:0030877	Reduced FEV1/FVC ratio
8701	DNAH11	HP:0030828	Wheezing
8701	DNAH11	HP:0003251	Male infertility
8701	DNAH11	HP:0011617	Pulmonary situs ambiguus
8701	DNAH11	HP:0033036	Decreased nasal nitric oxide
8701	DNAH11	HP:0025576	Abnormal inferior vena cava morphology
8701	DNAH11	HP:0012258	Abnormal axonemal organization of respiratory motile cilia
8701	DNAH11	HP:0012265	Ciliary dyskinesia
8701	DNAH11	HP:0012262	Abnormal ciliary motility
8701	DNAH11	HP:0000238	Hydrocephalus
8701	DNAH11	HP:0012206	Abnormal sperm motility
8701	DNAH11	HP:0002878	Respiratory failure
8701	DNAH11	HP:0000389	Chronic otitis media
8701	DNAH11	HP:0006532	Recurrent pneumonia
8701	DNAH11	HP:0006536	Airway obstruction
8701	DNAH11	HP:0001696	Situs inversus totalis
8701	DNAH11	HP:0000365	Hearing impairment
8701	DNAH11	HP:0001669	Transposition of the great arteries
8701	DNAH11	HP:0031456	Ectopic pregnancy
8701	DNAH11	HP:0001651	Dextrocardia
8701	DNAH11	HP:0001627	Abnormal heart morphology
8701	DNAH11	HP:0005301	Persistent left superior vena cava
8701	DNAH11	HP:0000403	Recurrent otitis media
8701	DNAH11	HP:0000405	Conductive hearing impairment
8701	DNAH11	HP:0001719	Double outlet right ventricle
8701	DNAH11	HP:0011109	Chronic sinusitis
8701	DNAH11	HP:0001746	Asplenia
8701	DNAH11	HP:0001748	Polysplenia
8701	DNAH11	HP:0001742	Nasal congestion
8701	DNAH11	HP:0005425	Recurrent sinopulmonary infections
8701	DNAH11	HP:0011274	Recurrent mycobacterial infections
8701	DNAH11	HP:0000510	Rod-cone dystrophy
8710	SERPINB7	HP:0025114	Hypergranulosis
8710	SERPINB7	HP:0007410	Palmoplantar hyperhidrosis
8710	SERPINB7	HP:0000007	Autosomal recessive inheritance
8710	SERPINB7	HP:0003593	Infantile onset
8710	SERPINB7	HP:0003577	Congenital onset
8710	SERPINB7	HP:0032007	Maceration
8710	SERPINB7	HP:0025092	Epidermal acanthosis
8710	SERPINB7	HP:0025080	Orthokeratotic hyperkeratosis
8710	SERPINB7	HP:0003623	Neonatal onset
8710	SERPINB7	HP:0003621	Juvenile onset
8710	SERPINB7	HP:0011463	Childhood onset
8710	SERPINB7	HP:0000975	Hyperhidrosis
8710	SERPINB7	HP:0000972	Palmoplantar hyperkeratosis
8710	SERPINB7	HP:0000982	Palmoplantar keratoderma
8720	MBTPS1	HP:0001156	Brachydactyly
8720	MBTPS1	HP:0100864	Short femoral neck
8720	MBTPS1	HP:0001216	Delayed ossification of carpal bones
8720	MBTPS1	HP:0002515	Waddling gait
8720	MBTPS1	HP:0000023	Inguinal hernia
8720	MBTPS1	HP:0002655	Spondyloepiphyseal dysplasia
8720	MBTPS1	HP:0000007	Autosomal recessive inheritance
8720	MBTPS1	HP:0002194	Delayed gross motor development
8720	MBTPS1	HP:0003593	Infantile onset
8720	MBTPS1	HP:0004325	Decreased body weight
8720	MBTPS1	HP:0004322	Short stature
8720	MBTPS1	HP:0004349	Reduced bone mineral density
8720	MBTPS1	HP:0000768	Pectus carinatum
8720	MBTPS1	HP:0002808	Kyphosis
8720	MBTPS1	HP:0001518	Small for gestational age
8720	MBTPS1	HP:0000358	Posteriorly rotated ears
8720	MBTPS1	HP:0000400	Macrotia
8720	MBTPS1	HP:0000518	Cataract
8720	MBTPS1	HP:0011220	Prominent forehead
8722	CTSF	HP:0002476	Primitive reflex
8722	CTSF	HP:0001272	Cerebellar atrophy
8722	CTSF	HP:0001268	Mental deterioration
8722	CTSF	HP:0001289	Confusion
8722	CTSF	HP:0001250	Seizure
8722	CTSF	HP:0001251	Ataxia
8722	CTSF	HP:0001260	Dysarthria
8722	CTSF	HP:0007359	Focal-onset seizure
8722	CTSF	HP:0002529	Neuronal loss in central nervous system
8722	CTSF	HP:0002506	Diffuse cerebral atrophy
8722	CTSF	HP:0001347	Hyperreflexia
8722	CTSF	HP:0000007	Autosomal recessive inheritance
8722	CTSF	HP:0001337	Tremor
8722	CTSF	HP:0001336	Myoclonus
8722	CTSF	HP:0002069	Bilateral tonic-clonic seizure
8722	CTSF	HP:0002066	Gait ataxia
8722	CTSF	HP:0002071	Abnormality of extrapyramidal motor function
8722	CTSF	HP:0003487	Babinski sign
8722	CTSF	HP:0002120	Cerebral cortical atrophy
8722	CTSF	HP:0002119	Ventriculomegaly
8722	CTSF	HP:0003676	Progressive
8722	CTSF	HP:0000716	Depression
8722	CTSF	HP:0000712	Emotional lability
8722	CTSF	HP:0000726	Dementia
8722	CTSF	HP:0011462	Young adult onset
8726	EED	HP:0001176	Large hands
8726	EED	HP:0001290	Generalized hypotonia
8726	EED	HP:0100807	Long fingers
8726	EED	HP:0001276	Hypertonia
8726	EED	HP:0001288	Gait disturbance
8726	EED	HP:0001250	Seizure
8726	EED	HP:0001249	Intellectual disability
8726	EED	HP:0001263	Global developmental delay
8726	EED	HP:0001257	Spasticity
8726	EED	HP:0001231	Abnormal fingernail morphology
8726	EED	HP:0006101	Finger syndactyly
8726	EED	HP:0008736	Hypoplasia of penis
8726	EED	HP:0000098	Tall stature
8726	EED	HP:0001371	Flexion contracture
8726	EED	HP:0001388	Joint laxity
8726	EED	HP:0001387	Joint stiffness
8726	EED	HP:0000023	Inguinal hernia
8726	EED	HP:0000028	Cryptorchidism
8726	EED	HP:0008872	Feeding difficulties in infancy
8726	EED	HP:0002673	Coxa valga
8726	EED	HP:0000006	Autosomal dominant inheritance
8726	EED	HP:0002650	Scoliosis
8726	EED	HP:0002002	Deep philtrum
8726	EED	HP:0100490	Camptodactyly of finger
8726	EED	HP:0011823	Chin with horizontal crease
8726	EED	HP:0003577	Congenital onset
8726	EED	HP:0002213	Fine hair
8726	EED	HP:0002370	Poor coordination
8726	EED	HP:0011304	Broad thumb
8726	EED	HP:0005616	Accelerated skeletal maturation
8726	EED	HP:0030680	Abnormality of cardiovascular system morphology
8726	EED	HP:0005692	Joint hyperflexibility
8726	EED	HP:0003015	Flared metaphysis
8726	EED	HP:0400004	Long ear
8726	EED	HP:0000750	Delayed speech and language development
8726	EED	HP:0000995	Melanocytic nevus
8726	EED	HP:0010300	Abnormally low-pitched voice
8726	EED	HP:0000938	Osteopenia
8726	EED	HP:0000944	Abnormal metaphysis morphology
8726	EED	HP:0000286	Epicanthus
8726	EED	HP:0000278	Retrognathia
8726	EED	HP:0000256	Macrocephaly
8726	EED	HP:0001582	Redundant skin
8726	EED	HP:0001548	Overgrowth
8726	EED	HP:0001537	Umbilical hernia
8726	EED	HP:0002866	Hypoplastic iliac wing
8726	EED	HP:0012385	Camptodactyly
8726	EED	HP:0001609	Hoarse voice
8726	EED	HP:0000369	Low-set ears
8726	EED	HP:0000368	Low-set, posteriorly rotated ears
8726	EED	HP:0000343	Long philtrum
8726	EED	HP:0000337	Broad forehead
8726	EED	HP:0000347	Micrognathia
8726	EED	HP:0000316	Hypertelorism
8726	EED	HP:0001643	Patent ductus arteriosus
8726	EED	HP:0000311	Round face
8726	EED	HP:0006610	Wide intermamillary distance
8726	EED	HP:0000400	Macrotia
8726	EED	HP:0005280	Depressed nasal bridge
8726	EED	HP:0000494	Downslanted palpebral fissures
8726	EED	HP:0001792	Small nail
8726	EED	HP:0001769	Broad foot
8726	EED	HP:0001762	Talipes equinovarus
8726	EED	HP:0000431	Wide nasal bridge
8726	EED	HP:0001761	Pes cavus
8726	EED	HP:0000518	Cataract
8726	EED	HP:0001852	Sandal gap
8726	EED	HP:0000508	Ptosis
8726	EED	HP:0001833	Long foot
8726	EED	HP:0001800	Hypoplastic toenails
8726	EED	HP:0001816	Thin nail
8726	EED	HP:0001814	Deep-set nails
8726	EED	HP:0000545	Myopia
8729	GBF1	HP:0002460	Distal muscle weakness
8729	GBF1	HP:0001270	Motor delay
8729	GBF1	HP:0001284	Areflexia
8729	GBF1	HP:0001265	Hyporeflexia
8729	GBF1	HP:0001260	Dysarthria
8729	GBF1	HP:0000006	Autosomal dominant inheritance
8729	GBF1	HP:0003394	Muscle spasm
8729	GBF1	HP:0003393	Thenar muscle atrophy
8729	GBF1	HP:0003378	Axonal degeneration/regeneration
8729	GBF1	HP:0003376	Steppage gait
8729	GBF1	HP:0003383	Onion bulb formation
8729	GBF1	HP:0003481	Segmental peripheral demyelination/remyelination
8729	GBF1	HP:0003445	EMG: neuropathic changes
8729	GBF1	HP:0003596	Middle age onset
8729	GBF1	HP:0003693	Distal amyotrophy
8729	GBF1	HP:0002355	Difficulty walking
8729	GBF1	HP:0007107	Segmental peripheral demyelination
8729	GBF1	HP:0009027	Foot dorsiflexor weakness
8729	GBF1	HP:0011463	Childhood onset
8729	GBF1	HP:0011462	Young adult onset
8729	GBF1	HP:0002936	Distal sensory impairment
8729	GBF1	HP:0001765	Hammertoe
8729	GBF1	HP:0001761	Pes cavus
8733	GPAA1	HP:0001290	Generalized hypotonia
8733	GPAA1	HP:0001272	Cerebellar atrophy
8733	GPAA1	HP:0001256	Intellectual disability, mild
8733	GPAA1	HP:0001250	Seizure
8733	GPAA1	HP:0001252	Hypotonia
8733	GPAA1	HP:0001249	Intellectual disability
8733	GPAA1	HP:0001260	Dysarthria
8733	GPAA1	HP:0001263	Global developmental delay
8733	GPAA1	HP:0001257	Spasticity
8733	GPAA1	HP:0002540	Inability to walk
8733	GPAA1	HP:0001347	Hyperreflexia
8733	GPAA1	HP:0000007	Autosomal recessive inheritance
8733	GPAA1	HP:0001337	Tremor
8733	GPAA1	HP:0001310	Dysmetria
8733	GPAA1	HP:0001321	Cerebellar hypoplasia
8733	GPAA1	HP:0002069	Bilateral tonic-clonic seizure
8733	GPAA1	HP:0002066	Gait ataxia
8733	GPAA1	HP:0002121	Generalized non-motor (absence) seizure
8733	GPAA1	HP:0002133	Status epilepticus
8733	GPAA1	HP:0002186	Apraxia
8733	GPAA1	HP:0003593	Infantile onset
8733	GPAA1	HP:0003698	Difficulty standing
8733	GPAA1	HP:0002355	Difficulty walking
8733	GPAA1	HP:0002353	EEG abnormality
8733	GPAA1	HP:0010819	Atonic seizure
8733	GPAA1	HP:0000639	Nystagmus
8733	GPAA1	HP:0000648	Optic atrophy
8733	GPAA1	HP:0000657	Oculomotor apraxia
8733	GPAA1	HP:0000750	Delayed speech and language development
8733	GPAA1	HP:0012758	Neurodevelopmental delay
8733	GPAA1	HP:0003155	Elevated circulating alkaline phosphatase concentration
8733	GPAA1	HP:0000939	Osteoporosis
8733	GPAA1	HP:0000938	Osteopenia
8733	GPAA1	HP:0000341	Narrow forehead
8733	GPAA1	HP:0032794	Myoclonic seizure
8733	GPAA1	HP:0000316	Hypertelorism
8733	GPAA1	HP:0000463	Anteverted nares
8733	GPAA1	HP:0000455	Broad nasal tip
8733	GPAA1	HP:0000505	Visual impairment
8733	GPAA1	HP:0011220	Prominent forehead
8733	GPAA1	HP:0000545	Myopia
8737	RIPK1	HP:0410297	Partial absence of specific antibody response to tetanus vaccine
8737	RIPK1	HP:0010976	B lymphocytopenia
8737	RIPK1	HP:0000007	Autosomal recessive inheritance
8737	RIPK1	HP:0000006	Autosomal dominant inheritance
8737	RIPK1	HP:0000155	Oral ulcer
8737	RIPK1	HP:0002716	Lymphadenopathy
8737	RIPK1	HP:0002037	Inflammation of the large intestine
8737	RIPK1	HP:0002027	Abdominal pain
8737	RIPK1	HP:0002014	Diarrhea
8737	RIPK1	HP:0002110	Bronchiectasis
8737	RIPK1	HP:0003493	Antinuclear antibody positivity
8737	RIPK1	HP:0003593	Infantile onset
8737	RIPK1	HP:0002240	Hepatomegaly
8737	RIPK1	HP:0002205	Recurrent respiratory infections
8737	RIPK1	HP:0009789	Perianal abscess
8737	RIPK1	HP:0003623	Neonatal onset
8737	RIPK1	HP:0001954	Recurrent fever
8737	RIPK1	HP:0001935	Microcytic anemia
8737	RIPK1	HP:0004313	Decreased circulating antibody level
8737	RIPK1	HP:0040218	Reduced natural killer cell count
8737	RIPK1	HP:0000988	Skin rash
8737	RIPK1	HP:0001508	Failure to thrive
8737	RIPK1	HP:0005263	Gastritis
8737	RIPK1	HP:0006528	Chronic lung disease
8737	RIPK1	HP:0002923	Rheumatoid factor positive
8737	RIPK1	HP:0011110	Recurrent tonsillitis
8737	RIPK1	HP:0001744	Splenomegaly
8737	RIPK1	HP:0005403	T lymphocytopenia
8738	CRADD	HP:0001250	Seizure
8738	CRADD	HP:0001249	Intellectual disability
8738	CRADD	HP:0001355	Megalencephaly
8738	CRADD	HP:0001339	Lissencephaly
8738	CRADD	HP:0000007	Autosomal recessive inheritance
8738	CRADD	HP:0001302	Pachygyria
8738	CRADD	HP:0002069	Bilateral tonic-clonic seizure
8738	CRADD	HP:0000750	Delayed speech and language development
8738	CRADD	HP:0040194	Increased head circumference
8742	TNFSF12	HP:0001392	Abnormality of the liver
8742	TNFSF12	HP:0002665	Lymphoma
8742	TNFSF12	HP:0002633	Vasculitis
8742	TNFSF12	HP:0002716	Lymphadenopathy
8742	TNFSF12	HP:0002721	Immunodeficiency
8742	TNFSF12	HP:0002023	Anal atresia
8742	TNFSF12	HP:0002097	Emphysema
8742	TNFSF12	HP:0002090	Pneumonia
8742	TNFSF12	HP:0002091	Restrictive ventilatory defect
8742	TNFSF12	HP:0002110	Bronchiectasis
8742	TNFSF12	HP:0002205	Recurrent respiratory infections
8742	TNFSF12	HP:0100723	Gastrointestinal stroma tumor
8742	TNFSF12	HP:0001973	Autoimmune thrombocytopenia
8742	TNFSF12	HP:0004313	Decreased circulating antibody level
8742	TNFSF12	HP:0000979	Purpura
8742	TNFSF12	HP:0002829	Arthralgia
8742	TNFSF12	HP:0000248	Brachycephaly
8742	TNFSF12	HP:0001531	Failure to thrive in infancy
8742	TNFSF12	HP:0002837	Recurrent bronchitis
8742	TNFSF12	HP:0000389	Chronic otitis media
8742	TNFSF12	HP:0000388	Otitis media
8742	TNFSF12	HP:0002910	Elevated hepatic transaminase
8742	TNFSF12	HP:0001744	Splenomegaly
8742	TNFSF12	HP:0006783	Posterior pharyngeal cleft
8742	TNFSF12	HP:0001888	Lymphopenia
8742	TNFSF12	HP:0001878	Hemolytic anemia
8754	ADAM9	HP:0000007	Autosomal recessive inheritance
8754	ADAM9	HP:0000613	Photophobia
8754	ADAM9	HP:0000662	Nyctalopia
8754	ADAM9	HP:0007703	Abnormality of retinal pigmentation
8754	ADAM9	HP:0000505	Visual impairment
8754	ADAM9	HP:0000551	Color vision defect
8754	ADAM9	HP:0000548	Cone/cone-rod dystrophy
8763	CD164	HP:0000006	Autosomal dominant inheritance
8763	CD164	HP:0003593	Infantile onset
8763	CD164	HP:0011462	Young adult onset
8763	CD164	HP:0000407	Sensorineural hearing impairment
8763	CD164	HP:0001751	Abnormal vestibular function
8772	FADD	HP:0001298	Encephalopathy
8772	FADD	HP:0001250	Seizure
8772	FADD	HP:0003819	Death in childhood
8772	FADD	HP:0001395	Hepatic fibrosis
8772	FADD	HP:0000007	Autosomal recessive inheritance
8772	FADD	HP:0032550	Howell-Jolly bodies
8772	FADD	HP:0001410	Decreased liver function
8772	FADD	HP:0002719	Recurrent infections
8772	FADD	HP:0033196	Portal inflammation
8772	FADD	HP:0033199	Increased circulating interleukin 10 concentration
8772	FADD	HP:0002059	Cerebral atrophy
8772	FADD	HP:0004935	Pulmonary artery atresia
8772	FADD	HP:0031964	Elevated circulating alanine aminotransferase concentration
8772	FADD	HP:0012852	Hepatic bridging fibrosis
8772	FADD	HP:0011669	Left superior vena cava draining directly to the left atrium
8772	FADD	HP:0030057	Autoimmune antibody positivity
8772	FADD	HP:0001629	Ventricular septal defect
8777	MPDZ	HP:0001104	Macular hypoplasia
8777	MPDZ	HP:0009879	Simplified gyral pattern
8777	MPDZ	HP:0001270	Motor delay
8777	MPDZ	HP:0001250	Seizure
8777	MPDZ	HP:0001249	Intellectual disability
8777	MPDZ	HP:0003828	Variable expressivity
8777	MPDZ	HP:0001339	Lissencephaly
8777	MPDZ	HP:0000007	Autosomal recessive inheritance
8777	MPDZ	HP:0001334	Communicating hydrocephalus
8777	MPDZ	HP:0002007	Frontal bossing
8777	MPDZ	HP:0002119	Ventriculomegaly
8777	MPDZ	HP:0003577	Congenital onset
8777	MPDZ	HP:0002282	Gray matter heterotopia
8777	MPDZ	HP:0000648	Optic atrophy
8777	MPDZ	HP:0000612	Iris coloboma
8777	MPDZ	HP:0001999	Abnormal facial shape
8777	MPDZ	HP:0000256	Macrocephaly
8777	MPDZ	HP:0030048	Colpocephaly
8777	MPDZ	HP:0000358	Posteriorly rotated ears
8777	MPDZ	HP:0000407	Sensorineural hearing impairment
8777	MPDZ	HP:0000486	Strabismus
8777	MPDZ	HP:0000494	Downslanted palpebral fissures
8777	MPDZ	HP:0000414	Bulbous nose
8787	RGS9	HP:0000007	Autosomal recessive inheritance
8787	RGS9	HP:0001098	Abnormal fundus morphology
8787	RGS9	HP:0030511	Bradyopsia
8787	RGS9	HP:0000613	Photophobia
8787	RGS9	HP:0000505	Visual impairment
8787	RGS9	HP:0000551	Color vision defect
8788	DLK1	HP:0001181	Adducted thumb
8788	DLK1	HP:0008551	Microtia
8788	DLK1	HP:0001270	Motor delay
8788	DLK1	HP:0001256	Intellectual disability, mild
8788	DLK1	HP:0001250	Seizure
8788	DLK1	HP:0001252	Hypotonia
8788	DLK1	HP:0001249	Intellectual disability
8788	DLK1	HP:0001263	Global developmental delay
8788	DLK1	HP:0002557	Hypoplastic nipples
8788	DLK1	HP:0001239	Wrist flexion contracture
8788	DLK1	HP:0100864	Short femoral neck
8788	DLK1	HP:0001220	Interphalangeal joint contracture of finger
8788	DLK1	HP:0001371	Flexion contracture
8788	DLK1	HP:0001388	Joint laxity
8788	DLK1	HP:0001382	Joint hypermobility
8788	DLK1	HP:0000023	Inguinal hernia
8788	DLK1	HP:0002694	Sclerosis of skull base
8788	DLK1	HP:0001357	Plagiocephaly
8788	DLK1	HP:0000028	Cryptorchidism
8788	DLK1	HP:0008897	Postnatal growth retardation
8788	DLK1	HP:0008872	Feeding difficulties in infancy
8788	DLK1	HP:0002673	Coxa valga
8788	DLK1	HP:0001339	Lissencephaly
8788	DLK1	HP:0002650	Scoliosis
8788	DLK1	HP:0001319	Neonatal hypotonia
8788	DLK1	HP:0002645	Wormian bones
8788	DLK1	HP:0000194	Open mouth
8788	DLK1	HP:0000193	Bifid uvula
8788	DLK1	HP:0000160	Narrow mouth
8788	DLK1	HP:0000158	Macroglossia
8788	DLK1	HP:0000175	Cleft palate
8788	DLK1	HP:0007685	Peripheral retinal avascularization
8788	DLK1	HP:0008947	Infantile muscular hypotonia
8788	DLK1	HP:0006267	Large placenta
8788	DLK1	HP:0000119	Abnormality of the genitourinary system
8788	DLK1	HP:0000126	Hydronephrosis
8788	DLK1	HP:0001433	Hepatosplenomegaly
8788	DLK1	HP:0002751	Kyphoscoliosis
8788	DLK1	HP:0002714	Downturned corners of mouth
8788	DLK1	HP:0002021	Pyloric stenosis
8788	DLK1	HP:0002033	Poor suck
8788	DLK1	HP:0002002	Deep philtrum
8788	DLK1	HP:0005989	Redundant neck skin
8788	DLK1	HP:0004673	Decreased facial expression
8788	DLK1	HP:0002007	Frontal bossing
8788	DLK1	HP:0002089	Pulmonary hypoplasia
8788	DLK1	HP:0002092	Pulmonary arterial hypertension
8788	DLK1	HP:0002091	Restrictive ventilatory defect
8788	DLK1	HP:0002057	Prominent glabella
8788	DLK1	HP:0009600	Contracture of thumb
8788	DLK1	HP:0002194	Delayed gross motor development
8788	DLK1	HP:0010561	Undulate ribs
8788	DLK1	HP:0010511	Long toe
8788	DLK1	HP:0011823	Chin with horizontal crease
8788	DLK1	HP:0011824	Chin with H-shaped crease
8788	DLK1	HP:0002263	Exaggerated cupid's bow
8788	DLK1	HP:0002240	Hepatomegaly
8788	DLK1	HP:0010655	Epiphyseal stippling
8788	DLK1	HP:0007010	Poor fine motor coordination
8788	DLK1	HP:0011968	Feeding difficulties
8788	DLK1	HP:0009826	Limb undergrowth
8788	DLK1	HP:0009832	Abnormal distal phalanx morphology of finger
8788	DLK1	HP:0009836	Broad distal phalanx of finger
8788	DLK1	HP:0010804	Tented upper lip vermilion
8788	DLK1	HP:0009824	Upper limb undergrowth
8788	DLK1	HP:0200055	Small hand
8788	DLK1	HP:0002307	Drooling
8788	DLK1	HP:0004904	Maturity-onset diabetes of the young
8788	DLK1	HP:0031878	Acromicria
8788	DLK1	HP:0004299	Hernia of the abdominal wall
8788	DLK1	HP:0001956	Truncal obesity
8788	DLK1	HP:0010034	Short 1st metacarpal
8788	DLK1	HP:0011344	Severe global developmental delay
8788	DLK1	HP:0011335	Frontal hirsutism
8788	DLK1	HP:0011343	Moderate global developmental delay
8788	DLK1	HP:0001999	Abnormal facial shape
8788	DLK1	HP:0004322	Short stature
8788	DLK1	HP:0003049	Ulnar deviation of the wrist
8788	DLK1	HP:0012745	Short palpebral fissure
8788	DLK1	HP:0000767	Pectus excavatum
8788	DLK1	HP:0000735	Impaired social interactions
8788	DLK1	HP:0000750	Delayed speech and language development
8788	DLK1	HP:0000729	Autistic behavior
8788	DLK1	HP:0011471	Gastrostomy tube feeding in infancy
8788	DLK1	HP:0012785	Flexion contracture of finger
8788	DLK1	HP:0000774	Narrow chest
8788	DLK1	HP:0000773	Short ribs
8788	DLK1	HP:0003124	Hypercholesterolemia
8788	DLK1	HP:0004415	Pulmonary artery stenosis
8788	DLK1	HP:0005736	Short tibia
8788	DLK1	HP:0000919	Abnormality of the costochondral junction
8788	DLK1	HP:0000924	Abnormality of the skeletal system
8788	DLK1	HP:0003186	Inverted nipples
8788	DLK1	HP:0000907	Anterior rib cupping
8788	DLK1	HP:0004482	Relative macrocephaly
8788	DLK1	HP:0000882	Hypoplastic scapulae
8788	DLK1	HP:0000890	Long clavicles
8788	DLK1	HP:0000884	Prominent sternum
8788	DLK1	HP:0000817	Reduced eye contact
8788	DLK1	HP:0000826	Precocious puberty
8788	DLK1	HP:0040024	Clinodactyly of the 3rd finger
8788	DLK1	HP:0003241	External genital hypoplasia
8788	DLK1	HP:0010301	Spinal dysraphism
8788	DLK1	HP:0000973	Cutis laxa
8788	DLK1	HP:0000954	Single transverse palmar crease
8788	DLK1	HP:0045025	Narrow palpebral fissure
8788	DLK1	HP:0000946	Hypoplastic ilia
8788	DLK1	HP:0012284	Small proximal tibial epiphyses
8788	DLK1	HP:0000286	Epicanthus
8788	DLK1	HP:0000278	Retrognathia
8788	DLK1	HP:0000293	Full cheeks
8788	DLK1	HP:0000260	Wide anterior fontanel
8788	DLK1	HP:0030084	Clinodactyly
8788	DLK1	HP:0005054	Metaphyseal spurs
8788	DLK1	HP:0000252	Microcephaly
8788	DLK1	HP:0002884	Hepatoblastoma
8788	DLK1	HP:0001548	Overgrowth
8788	DLK1	HP:0002878	Respiratory failure
8788	DLK1	HP:0000218	High palate
8788	DLK1	HP:0001561	Polyhydramnios
8788	DLK1	HP:0001540	Diastasis recti
8788	DLK1	HP:0001537	Umbilical hernia
8788	DLK1	HP:0001539	Omphalocele
8788	DLK1	HP:0001538	Protuberant abdomen
8788	DLK1	HP:0002866	Hypoplastic iliac wing
8788	DLK1	HP:0001520	Large for gestational age
8788	DLK1	HP:0001518	Small for gestational age
8788	DLK1	HP:0001511	Intrauterine growth retardation
8788	DLK1	HP:0001510	Growth delay
8788	DLK1	HP:0001513	Obesity
8788	DLK1	HP:0012385	Camptodactyly
8788	DLK1	HP:0005257	Thoracic hypoplasia
8788	DLK1	HP:0006591	Absent glenoid fossa
8788	DLK1	HP:0005268	Miscarriage
8788	DLK1	HP:0002937	Hemivertebrae
8788	DLK1	HP:0001601	Laryngomalacia
8788	DLK1	HP:0001615	Hoarse cry
8788	DLK1	HP:0000358	Posteriorly rotated ears
8788	DLK1	HP:0000368	Low-set, posteriorly rotated ears
8788	DLK1	HP:0000341	Narrow forehead
8788	DLK1	HP:0000343	Long philtrum
8788	DLK1	HP:0000337	Broad forehead
8788	DLK1	HP:0000347	Micrognathia
8788	DLK1	HP:0002982	Tibial bowing
8788	DLK1	HP:0012303	Abnormal aortic arch morphology
8788	DLK1	HP:0000327	Hypoplasia of the maxilla
8788	DLK1	HP:0000322	Short philtrum
8788	DLK1	HP:0001629	Ventricular septal defect
8788	DLK1	HP:0001627	Abnormal heart morphology
8788	DLK1	HP:0001622	Premature birth
8788	DLK1	HP:0001639	Hypertrophic cardiomyopathy
8788	DLK1	HP:0001631	Atrial septal defect
8788	DLK1	HP:0000303	Mandibular prognathia
8788	DLK1	HP:0006610	Wide intermamillary distance
8788	DLK1	HP:0006665	Coat hanger sign of ribs
8788	DLK1	HP:0000403	Recurrent otitis media
8788	DLK1	HP:0005280	Depressed nasal bridge
8788	DLK1	HP:0012471	Thick vermilion border
8788	DLK1	HP:0000490	Deeply set eye
8788	DLK1	HP:0001792	Small nail
8788	DLK1	HP:0000463	Anteverted nares
8788	DLK1	HP:0000470	Short neck
8788	DLK1	HP:0001773	Short foot
8788	DLK1	HP:0012428	Prominent calcaneus
8788	DLK1	HP:0000445	Wide nose
8788	DLK1	HP:0000431	Wide nasal bridge
8788	DLK1	HP:0001845	Overlapping toe
8788	DLK1	HP:0001840	Metatarsus adductus
8788	DLK1	HP:0000581	Blepharophimosis
8788	DLK1	HP:0011220	Prominent forehead
8788	DLK1	HP:0000565	Esotropia
8789	FBP2	HP:0002415	Leukodystrophy
8789	FBP2	HP:0001288	Gait disturbance
8789	FBP2	HP:0007359	Focal-onset seizure
8789	FBP2	HP:0002500	Abnormal cerebral white matter morphology
8789	FBP2	HP:0000006	Autosomal dominant inheritance
8789	FBP2	HP:0003593	Infantile onset
8789	FBP2	HP:0011968	Feeding difficulties
8789	FBP2	HP:0033454	Tube feeding
8789	FBP2	HP:0000737	Irritability
8792	TNFRSF11A	HP:0025124	Fragile teeth
8792	TNFRSF11A	HP:0002423	Long-tract signs
8792	TNFRSF11A	HP:0001290	Generalized hypotonia
8792	TNFRSF11A	HP:0001291	Abnormal cranial nerve morphology
8792	TNFRSF11A	HP:0001270	Motor delay
8792	TNFRSF11A	HP:0001249	Intellectual disability
8792	TNFRSF11A	HP:0001263	Global developmental delay
8792	TNFRSF11A	HP:0002514	Cerebral calcification
8792	TNFRSF11A	HP:0002512	Brain stem compression
8792	TNFRSF11A	HP:0003819	Death in childhood
8792	TNFRSF11A	HP:0002694	Sclerosis of skull base
8792	TNFRSF11A	HP:0003991	Osteosclerosis of the ulna
8792	TNFRSF11A	HP:0002659	Increased susceptibility to fractures
8792	TNFRSF11A	HP:0000007	Autosomal recessive inheritance
8792	TNFRSF11A	HP:0000006	Autosomal dominant inheritance
8792	TNFRSF11A	HP:0002653	Bone pain
8792	TNFRSF11A	HP:0000164	Abnormality of the dentition
8792	TNFRSF11A	HP:0002797	Osteolysis
8792	TNFRSF11A	HP:0001482	Subcutaneous nodule
8792	TNFRSF11A	HP:0002757	Recurrent fractures
8792	TNFRSF11A	HP:0002756	Pathologic fracture
8792	TNFRSF11A	HP:0002753	Thin bony cortex
8792	TNFRSF11A	HP:0002720	Decreased circulating IgA level
8792	TNFRSF11A	HP:0004618	Sandwich appearance of vertebral bodies
8792	TNFRSF11A	HP:0003301	Irregular vertebral endplates
8792	TNFRSF11A	HP:0002149	Hyperuricemia
8792	TNFRSF11A	HP:0002199	Hypocalcemic seizures
8792	TNFRSF11A	HP:0003593	Infantile onset
8792	TNFRSF11A	HP:0002273	Tetraparesis
8792	TNFRSF11A	HP:0002240	Hepatomegaly
8792	TNFRSF11A	HP:0002385	Paraparesis
8792	TNFRSF11A	HP:0002376	Developmental regression
8792	TNFRSF11A	HP:0003676	Progressive
8792	TNFRSF11A	HP:0002315	Headache
8792	TNFRSF11A	HP:0100670	Coarse metaphyseal trabecularization
8792	TNFRSF11A	HP:0100671	Abnormal trabecular bone morphology
8792	TNFRSF11A	HP:0008513	Bilateral conductive hearing impairment
8792	TNFRSF11A	HP:0008479	Hypoplastic vertebral bodies
8792	TNFRSF11A	HP:0003623	Neonatal onset
8792	TNFRSF11A	HP:0031846	Femur fracture
8792	TNFRSF11A	HP:0006824	Cranial nerve paralysis
8792	TNFRSF11A	HP:0000639	Nystagmus
8792	TNFRSF11A	HP:0000648	Optic atrophy
8792	TNFRSF11A	HP:0001903	Anemia
8792	TNFRSF11A	HP:0000682	Abnormal dental enamel morphology
8792	TNFRSF11A	HP:0000684	Delayed eruption of teeth
8792	TNFRSF11A	HP:0004322	Short stature
8792	TNFRSF11A	HP:0004315	Decreased circulating IgG level
8792	TNFRSF11A	HP:0006956	Lateral ventricle dilatation
8792	TNFRSF11A	HP:0003072	Hypercalcemia
8792	TNFRSF11A	HP:0003084	Fractures of the long bones
8792	TNFRSF11A	HP:0003080	Hydroxyprolinuria
8792	TNFRSF11A	HP:0034197	Third trimester onset
8792	TNFRSF11A	HP:0000768	Pectus carinatum
8792	TNFRSF11A	HP:0004437	Cranial hyperostosis
8792	TNFRSF11A	HP:0000926	Platyspondyly
8792	TNFRSF11A	HP:0003155	Elevated circulating alkaline phosphatase concentration
8792	TNFRSF11A	HP:0004493	Craniofacial hyperostosis
8792	TNFRSF11A	HP:0000889	Abnormal clavicle morphology
8792	TNFRSF11A	HP:0003097	Short femur
8792	TNFRSF11A	HP:0000822	Hypertension
8792	TNFRSF11A	HP:0000995	Melanocytic nevus
8792	TNFRSF11A	HP:0000939	Osteoporosis
8792	TNFRSF11A	HP:0000944	Abnormal metaphysis morphology
8792	TNFRSF11A	HP:0008065	Aplasia/Hypoplasia of the skin
8792	TNFRSF11A	HP:0040194	Increased head circumference
8792	TNFRSF11A	HP:0007703	Abnormality of retinal pigmentation
8792	TNFRSF11A	HP:0000256	Macrocephaly
8792	TNFRSF11A	HP:0000238	Hydrocephalus
8792	TNFRSF11A	HP:0001522	Death in infancy
8792	TNFRSF11A	HP:0002850	Decreased circulating total IgM
8792	TNFRSF11A	HP:0001510	Growth delay
8792	TNFRSF11A	HP:0007807	Optic nerve compression
8792	TNFRSF11A	HP:0006532	Recurrent pneumonia
8792	TNFRSF11A	HP:0006480	Premature loss of teeth
8792	TNFRSF11A	HP:0006487	Bowing of the long bones
8792	TNFRSF11A	HP:0000365	Hearing impairment
8792	TNFRSF11A	HP:0011002	Osteopetrosis
8792	TNFRSF11A	HP:0011001	Increased bone mineral density
8792	TNFRSF11A	HP:0002980	Femoral bowing
8792	TNFRSF11A	HP:0000316	Hypertelorism
8792	TNFRSF11A	HP:0001629	Ventricular septal defect
8792	TNFRSF11A	HP:0002953	Vertebral compression fracture
8792	TNFRSF11A	HP:0006640	Multiple rib fractures
8792	TNFRSF11A	HP:0000405	Conductive hearing impairment
8792	TNFRSF11A	HP:0001744	Splenomegaly
8792	TNFRSF11A	HP:0000529	Progressive visual loss
8792	TNFRSF11A	HP:0000520	Proptosis
8795	TNFRSF10B	HP:0000007	Autosomal recessive inheritance
8795	TNFRSF10B	HP:0002860	Squamous cell carcinoma
8799	PEX11B	HP:0001133	Constriction of peripheral visual field
8799	PEX11B	HP:0008572	External ear malformation
8799	PEX11B	HP:0009891	Underdeveloped supraorbital ridges
8799	PEX11B	HP:0001271	Polyneuropathy
8799	PEX11B	HP:0001284	Areflexia
8799	PEX11B	HP:0001256	Intellectual disability, mild
8799	PEX11B	HP:0001250	Seizure
8799	PEX11B	HP:0001252	Hypotonia
8799	PEX11B	HP:0001251	Ataxia
8799	PEX11B	HP:0001263	Global developmental delay
8799	PEX11B	HP:0001257	Spasticity
8799	PEX11B	HP:0008665	Clitoral hypertrophy
8799	PEX11B	HP:0001399	Hepatic failure
8799	PEX11B	HP:0001392	Abnormality of the liver
8799	PEX11B	HP:0000047	Hypospadias
8799	PEX11B	HP:0000020	Urinary incontinence
8799	PEX11B	HP:0001347	Hyperreflexia
8799	PEX11B	HP:0000034	Hydrocele testis
8799	PEX11B	HP:0000028	Cryptorchidism
8799	PEX11B	HP:0008872	Feeding difficulties in infancy
8799	PEX11B	HP:0001324	Muscle weakness
8799	PEX11B	HP:0000007	Autosomal recessive inheritance
8799	PEX11B	HP:0000003	Multicystic kidney dysplasia
8799	PEX11B	HP:0002652	Skeletal dysplasia
8799	PEX11B	HP:0001315	Reduced tendon reflexes
8799	PEX11B	HP:0000157	Abnormality of the tongue
8799	PEX11B	HP:0000174	Abnormal palate morphology
8799	PEX11B	HP:0007598	Bilateral single transverse palmar creases
8799	PEX11B	HP:0000126	Hydronephrosis
8799	PEX11B	HP:0002024	Malabsorption
8799	PEX11B	HP:0002021	Pyloric stenosis
8799	PEX11B	HP:0003323	Progressive muscle weakness
8799	PEX11B	HP:0100543	Cognitive impairment
8799	PEX11B	HP:0002093	Respiratory insufficiency
8799	PEX11B	HP:0002076	Migraine
8799	PEX11B	HP:0005930	Abnormal epiphysis morphology
8799	PEX11B	HP:0008167	Very long chain fatty acid accumulation
8799	PEX11B	HP:0002126	Polymicrogyria
8799	PEX11B	HP:0010571	Elevated circulating phytanic acid concentration
8799	PEX11B	HP:0008207	Primary adrenal insufficiency
8799	PEX11B	HP:0002269	Abnormality of neuronal migration
8799	PEX11B	HP:0002240	Hepatomegaly
8799	PEX11B	HP:0010655	Epiphyseal stippling
8799	PEX11B	HP:0010628	Facial palsy
8799	PEX11B	HP:0002376	Developmental regression
8799	PEX11B	HP:0002353	EEG abnormality
8799	PEX11B	HP:0001088	Brushfield spots
8799	PEX11B	HP:0006829	Severe muscular hypotonia
8799	PEX11B	HP:0000639	Nystagmus
8799	PEX11B	HP:0000648	Optic atrophy
8799	PEX11B	HP:0000627	Posterior embryotoxon
8799	PEX11B	HP:0001928	Abnormality of coagulation
8799	PEX11B	HP:0001939	Abnormality of metabolism/homeostasis
8799	PEX11B	HP:0011344	Severe global developmental delay
8799	PEX11B	HP:0000662	Nyctalopia
8799	PEX11B	HP:0004322	Short stature
8799	PEX11B	HP:0012736	Profound global developmental delay
8799	PEX11B	HP:0100022	Abnormality of movement
8799	PEX11B	HP:0000708	Atypical behavior
8799	PEX11B	HP:0000958	Dry skin
8799	PEX11B	HP:0000952	Jaundice
8799	PEX11B	HP:0008064	Ichthyosis
8799	PEX11B	HP:0011675	Arrhythmia
8799	PEX11B	HP:0007703	Abnormality of retinal pigmentation
8799	PEX11B	HP:0000286	Epicanthus
8799	PEX11B	HP:0000260	Wide anterior fontanel
8799	PEX11B	HP:0000256	Macrocephaly
8799	PEX11B	HP:0000271	Abnormality of the face
8799	PEX11B	HP:0000268	Dolichocephaly
8799	PEX11B	HP:0000252	Microcephaly
8799	PEX11B	HP:0000218	High palate
8799	PEX11B	HP:0001522	Death in infancy
8799	PEX11B	HP:0001508	Failure to thrive
8799	PEX11B	HP:0012368	Flat face
8799	PEX11B	HP:0000365	Hearing impairment
8799	PEX11B	HP:0000368	Low-set, posteriorly rotated ears
8799	PEX11B	HP:0000348	High forehead
8799	PEX11B	HP:0000347	Micrognathia
8799	PEX11B	HP:0001629	Ventricular septal defect
8799	PEX11B	HP:0001622	Premature birth
8799	PEX11B	HP:0001638	Cardiomyopathy
8799	PEX11B	HP:0007957	Corneal opacity
8799	PEX11B	HP:0000407	Sensorineural hearing impairment
8799	PEX11B	HP:0001730	Progressive hearing impairment
8799	PEX11B	HP:0005280	Depressed nasal bridge
8799	PEX11B	HP:0000486	Strabismus
8799	PEX11B	HP:0000463	Anteverted nares
8799	PEX11B	HP:0000474	Thickened nuchal skin fold
8799	PEX11B	HP:0000431	Wide nasal bridge
8799	PEX11B	HP:0005469	Flat occiput
8799	PEX11B	HP:0000518	Cataract
8799	PEX11B	HP:0000519	Developmental cataract
8799	PEX11B	HP:0000510	Rod-cone dystrophy
8799	PEX11B	HP:0000508	Ptosis
8799	PEX11B	HP:0000505	Visual impairment
8799	PEX11B	HP:0000501	Glaucoma
8799	PEX11B	HP:0000582	Upslanted palpebral fissure
8799	PEX11B	HP:0000532	Abnormal chorioretinal morphology
8802	SUCLG1	HP:0002487	Hyperkinetic movements
8802	SUCLG1	HP:0002490	Increased CSF lactate
8802	SUCLG1	HP:0010864	Intellectual disability, severe
8802	SUCLG1	HP:0500181	Hypertaurinemia
8802	SUCLG1	HP:0002421	Poor head control
8802	SUCLG1	HP:0001298	Encephalopathy
8802	SUCLG1	HP:0001276	Hypertonia
8802	SUCLG1	HP:0001270	Motor delay
8802	SUCLG1	HP:0001284	Areflexia
8802	SUCLG1	HP:0001250	Seizure
8802	SUCLG1	HP:0001252	Hypotonia
8802	SUCLG1	HP:0001249	Intellectual disability
8802	SUCLG1	HP:0001266	Choreoathetosis
8802	SUCLG1	HP:0001263	Global developmental delay
8802	SUCLG1	HP:0003819	Death in childhood
8802	SUCLG1	HP:0003811	Neonatal death
8802	SUCLG1	HP:0001397	Hepatic steatosis
8802	SUCLG1	HP:0001371	Flexion contracture
8802	SUCLG1	HP:0000047	Hypospadias
8802	SUCLG1	HP:0012087	Abnormal mitochondrial shape
8802	SUCLG1	HP:0001332	Dystonia
8802	SUCLG1	HP:0000007	Autosomal recessive inheritance
8802	SUCLG1	HP:0001336	Myoclonus
8802	SUCLG1	HP:0002643	Neonatal respiratory distress
8802	SUCLG1	HP:0012120	Methylmalonic aciduria
8802	SUCLG1	HP:0008947	Infantile muscular hypotonia
8802	SUCLG1	HP:0008936	Axial hypotonia
8802	SUCLG1	HP:0008935	Generalized neonatal hypotonia
8802	SUCLG1	HP:0002020	Gastroesophageal reflux
8802	SUCLG1	HP:0002013	Vomiting
8802	SUCLG1	HP:0002098	Respiratory distress
8802	SUCLG1	HP:0002093	Respiratory insufficiency
8802	SUCLG1	HP:0002045	Hypothermia
8802	SUCLG1	HP:0002059	Cerebral atrophy
8802	SUCLG1	HP:0010442	Polydactyly
8802	SUCLG1	HP:0002154	Hyperglycinemia
8802	SUCLG1	HP:0002151	Increased serum lactate
8802	SUCLG1	HP:0002104	Apnea
8802	SUCLG1	HP:0004742	Abnormal renal collecting system morphology
8802	SUCLG1	HP:0011924	Decreased activity of mitochondrial complex III
8802	SUCLG1	HP:0011923	Decreased activity of mitochondrial complex I
8802	SUCLG1	HP:0003593	Infantile onset
8802	SUCLG1	HP:0002240	Hepatomegaly
8802	SUCLG1	HP:0003557	Increased variability in muscle fiber diameter
8802	SUCLG1	HP:0002205	Recurrent respiratory infections
8802	SUCLG1	HP:0003535	3-Methylglutaconic aciduria
8802	SUCLG1	HP:0008347	Decreased activity of mitochondrial complex IV
8802	SUCLG1	HP:0011968	Feeding difficulties
8802	SUCLG1	HP:0002360	Sleep disturbance
8802	SUCLG1	HP:0002352	Leukoencephalopathy
8802	SUCLG1	HP:0003648	Lacticaciduria
8802	SUCLG1	HP:0002317	Unsteady gait
8802	SUCLG1	HP:0003623	Neonatal onset
8802	SUCLG1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
8802	SUCLG1	HP:0001943	Hypoglycemia
8802	SUCLG1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
8802	SUCLG1	HP:0031964	Elevated circulating alanine aminotransferase concentration
8802	SUCLG1	HP:0012751	Abnormal basal ganglia MRI signal intensity
8802	SUCLG1	HP:0000736	Short attention span
8802	SUCLG1	HP:0012707	Elevated brain lactate level by MRS
8802	SUCLG1	HP:0000718	Aggressive behavior
8802	SUCLG1	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
8802	SUCLG1	HP:0005792	Short humerus
8802	SUCLG1	HP:0003128	Lactic acidosis
8802	SUCLG1	HP:0003097	Short femur
8802	SUCLG1	HP:0003219	Ethylmalonic aciduria
8802	SUCLG1	HP:0003202	Skeletal muscle atrophy
8802	SUCLG1	HP:0003200	Ragged-red muscle fibers
8802	SUCLG1	HP:0003201	Rhabdomyolysis
8802	SUCLG1	HP:0000975	Hyperhidrosis
8802	SUCLG1	HP:0011611	Interrupted aortic arch
8802	SUCLG1	HP:0012240	Increased intramyocellular lipid droplets
8802	SUCLG1	HP:0000252	Microcephaly
8802	SUCLG1	HP:0032653	Elevated lactate:pyruvate ratio
8802	SUCLG1	HP:0002878	Respiratory failure
8802	SUCLG1	HP:0001522	Death in infancy
8802	SUCLG1	HP:0000202	Orofacial cleft
8802	SUCLG1	HP:0001508	Failure to thrive
8802	SUCLG1	HP:0001511	Intrauterine growth retardation
8802	SUCLG1	HP:0001510	Growth delay
8802	SUCLG1	HP:0012379	Abnormal circulating enzyme concentration or activity
8802	SUCLG1	HP:0002912	Methylmalonic acidemia
8802	SUCLG1	HP:0002910	Elevated hepatic transaminase
8802	SUCLG1	HP:0000365	Hearing impairment
8802	SUCLG1	HP:0001680	Coarctation of aorta
8802	SUCLG1	HP:0001643	Patent ductus arteriosus
8802	SUCLG1	HP:0001655	Patent foramen ovale
8802	SUCLG1	HP:0001639	Hypertrophic cardiomyopathy
8802	SUCLG1	HP:0032988	Persistent head lag
8802	SUCLG1	HP:0000407	Sensorineural hearing impairment
8802	SUCLG1	HP:0000486	Strabismus
8802	SUCLG1	HP:0000508	Ptosis
8803	SUCLA2	HP:0002487	Hyperkinetic movements
8803	SUCLA2	HP:0002448	Progressive encephalopathy
8803	SUCLA2	HP:0001290	Generalized hypotonia
8803	SUCLA2	HP:0001250	Seizure
8803	SUCLA2	HP:0001252	Hypotonia
8803	SUCLA2	HP:0001251	Ataxia
8803	SUCLA2	HP:0001265	Hyporeflexia
8803	SUCLA2	HP:0001263	Global developmental delay
8803	SUCLA2	HP:0001257	Spasticity
8803	SUCLA2	HP:0002540	Inability to walk
8803	SUCLA2	HP:0002514	Cerebral calcification
8803	SUCLA2	HP:0001349	Facial diplegia
8803	SUCLA2	HP:0008872	Feeding difficulties in infancy
8803	SUCLA2	HP:0001332	Dystonia
8803	SUCLA2	HP:0000007	Autosomal recessive inheritance
8803	SUCLA2	HP:0012120	Methylmalonic aciduria
8803	SUCLA2	HP:0008972	Decreased activity of mitochondrial respiratory chain
8803	SUCLA2	HP:0008945	Loss of ability to walk in early childhood
8803	SUCLA2	HP:0002747	Respiratory insufficiency due to muscle weakness
8803	SUCLA2	HP:0003355	Aminoaciduria
8803	SUCLA2	HP:0002059	Cerebral atrophy
8803	SUCLA2	HP:0002119	Ventriculomegaly
8803	SUCLA2	HP:0002134	Abnormal basal ganglia morphology
8803	SUCLA2	HP:0002194	Delayed gross motor development
8803	SUCLA2	HP:0003593	Infantile onset
8803	SUCLA2	HP:0002230	Generalized hirsutism
8803	SUCLA2	HP:0009830	Peripheral neuropathy
8803	SUCLA2	HP:0002305	Athetosis
8803	SUCLA2	HP:0006887	Intellectual disability, progressive
8803	SUCLA2	HP:0000649	Abnormality of visual evoked potentials
8803	SUCLA2	HP:0000602	Ophthalmoplegia
8803	SUCLA2	HP:0004322	Short stature
8803	SUCLA2	HP:0004326	Cachexia
8803	SUCLA2	HP:0000762	Decreased nerve conduction velocity
8803	SUCLA2	HP:0000737	Irritability
8803	SUCLA2	HP:0000708	Atypical behavior
8803	SUCLA2	HP:0003128	Lactic acidosis
8803	SUCLA2	HP:0003236	Elevated circulating creatine kinase concentration
8803	SUCLA2	HP:0003202	Skeletal muscle atrophy
8803	SUCLA2	HP:0000252	Microcephaly
8803	SUCLA2	HP:0001508	Failure to thrive
8803	SUCLA2	HP:0002912	Methylmalonic acidemia
8803	SUCLA2	HP:0000407	Sensorineural hearing impairment
8803	SUCLA2	HP:0000486	Strabismus
8803	SUCLA2	HP:0000512	Abnormal electroretinogram
8803	SUCLA2	HP:0000508	Ptosis
8803	SUCLA2	HP:0000505	Visual impairment
8812	CCNK	HP:0001182	Tapered finger
8812	CCNK	HP:0009928	Thick nasal alae
8812	CCNK	HP:0009890	High anterior hairline
8812	CCNK	HP:0010862	Delayed fine motor development
8812	CCNK	HP:0010864	Intellectual disability, severe
8812	CCNK	HP:0001263	Global developmental delay
8812	CCNK	HP:0000006	Autosomal dominant inheritance
8812	CCNK	HP:0002194	Delayed gross motor development
8812	CCNK	HP:0002342	Intellectual disability, moderate
8812	CCNK	HP:0004209	Clinodactyly of the 5th finger
8812	CCNK	HP:0000637	Long palpebral fissure
8812	CCNK	HP:0100023	Recurrent hand flapping
8812	CCNK	HP:0000750	Delayed speech and language development
8812	CCNK	HP:0000729	Autistic behavior
8812	CCNK	HP:0012801	Narrow jaw
8812	CCNK	HP:0045074	Thin eyebrow
8812	CCNK	HP:0000256	Macrocephaly
8812	CCNK	HP:0000219	Thin upper lip vermilion
8812	CCNK	HP:0000358	Posteriorly rotated ears
8812	CCNK	HP:0000369	Low-set ears
8812	CCNK	HP:0000343	Long philtrum
8812	CCNK	HP:0000316	Hypertelorism
8812	CCNK	HP:0000455	Broad nasal tip
8812	CCNK	HP:0012434	Delayed social development
8812	CCNK	HP:0001763	Pes planus
8812	CCNK	HP:0000431	Wide nasal bridge
8813	DPM1	HP:0001103	Abnormal macular morphology
8813	DPM1	HP:0001298	Encephalopathy
8813	DPM1	HP:0001290	Generalized hypotonia
8813	DPM1	HP:0001272	Cerebellar atrophy
8813	DPM1	HP:0001250	Seizure
8813	DPM1	HP:0001252	Hypotonia
8813	DPM1	HP:0001251	Ataxia
8813	DPM1	HP:0001257	Spasticity
8813	DPM1	HP:0007333	Hypoplasia of the frontal lobes
8813	DPM1	HP:0003828	Variable expressivity
8813	DPM1	HP:0001397	Hepatic steatosis
8813	DPM1	HP:0001395	Hepatic fibrosis
8813	DPM1	HP:0000007	Autosomal recessive inheritance
8813	DPM1	HP:0001337	Tremor
8813	DPM1	HP:0008947	Infantile muscular hypotonia
8813	DPM1	HP:0002705	High, narrow palate
8813	DPM1	HP:0025404	Abnormal visual fixation
8813	DPM1	HP:0001433	Hepatosplenomegaly
8813	DPM1	HP:0002014	Diarrhea
8813	DPM1	HP:0002098	Respiratory distress
8813	DPM1	HP:0002059	Cerebral atrophy
8813	DPM1	HP:0002057	Prominent glabella
8813	DPM1	HP:0002123	Generalized myoclonic seizure
8813	DPM1	HP:0002119	Ventriculomegaly
8813	DPM1	HP:0002164	Nail dysplasia
8813	DPM1	HP:0003593	Infantile onset
8813	DPM1	HP:0002240	Hepatomegaly
8813	DPM1	HP:0100704	Cerebral visual impairment
8813	DPM1	HP:0003560	Muscular dystrophy
8813	DPM1	HP:0004855	Reduced protein S activity
8813	DPM1	HP:0002395	Lower limb hyperreflexia
8813	DPM1	HP:0001028	Hemangioma
8813	DPM1	HP:0003676	Progressive
8813	DPM1	HP:0001009	Telangiectasia
8813	DPM1	HP:0002353	EEG abnormality
8813	DPM1	HP:0003645	Prolonged partial thromboplastin time
8813	DPM1	HP:0009826	Limb undergrowth
8813	DPM1	HP:0010819	Atonic seizure
8813	DPM1	HP:0010818	Generalized tonic seizure
8813	DPM1	HP:0009830	Peripheral neuropathy
8813	DPM1	HP:0010804	Tented upper lip vermilion
8813	DPM1	HP:0010806	U-Shaped upper lip vermilion
8813	DPM1	HP:0009824	Upper limb undergrowth
8813	DPM1	HP:0200055	Small hand
8813	DPM1	HP:0003642	Type I transferrin isoform profile
8813	DPM1	HP:0005543	Reduced protein C activity
8813	DPM1	HP:0004279	Short palm
8813	DPM1	HP:0006879	Pontocerebellar atrophy
8813	DPM1	HP:0000639	Nystagmus
8813	DPM1	HP:0001976	Reduced antithrombin III activity
8813	DPM1	HP:0000648	Optic atrophy
8813	DPM1	HP:0011344	Severe global developmental delay
8813	DPM1	HP:0011471	Gastrostomy tube feeding in infancy
8813	DPM1	HP:0012758	Neurodevelopmental delay
8813	DPM1	HP:0003186	Inverted nipples
8813	DPM1	HP:0100321	Abnormal dentate nucleus morphology
8813	DPM1	HP:0003236	Elevated circulating creatine kinase concentration
8813	DPM1	HP:0003241	External genital hypoplasia
8813	DPM1	HP:0000293	Full cheeks
8813	DPM1	HP:0006466	Ankle flexion contracture
8813	DPM1	HP:0006380	Knee flexion contracture
8813	DPM1	HP:0000243	Trigonocephaly
8813	DPM1	HP:0001508	Failure to thrive
8813	DPM1	HP:0012385	Camptodactyly
8813	DPM1	HP:0002910	Elevated hepatic transaminase
8813	DPM1	HP:0000347	Micrognathia
8813	DPM1	HP:0000319	Smooth philtrum
8813	DPM1	HP:0000316	Hypertelorism
8813	DPM1	HP:0001643	Patent ductus arteriosus
8813	DPM1	HP:0011152	Early onset absence seizures
8813	DPM1	HP:0005280	Depressed nasal bridge
8813	DPM1	HP:0000486	Strabismus
8813	DPM1	HP:0000494	Downslanted palpebral fissures
8813	DPM1	HP:0000488	Retinopathy
8813	DPM1	HP:0012448	Delayed myelination
8813	DPM1	HP:0001744	Splenomegaly
8813	DPM1	HP:0005484	Secondary microcephaly
8813	DPM1	HP:0005469	Flat occiput
8813	DPM1	HP:0001847	Long hallux
8813	DPM1	HP:0001852	Sandal gap
8813	DPM1	HP:0000565	Esotropia
8815	BANF1	HP:0001371	Flexion contracture
8815	BANF1	HP:0001387	Joint stiffness
8815	BANF1	HP:0000007	Autosomal recessive inheritance
8815	BANF1	HP:0002650	Scoliosis
8815	BANF1	HP:0002621	Atherosclerosis
8815	BANF1	HP:0001476	Delayed closure of the anterior fontanelle
8815	BANF1	HP:0002797	Osteolysis
8815	BANF1	HP:0031295	Left atrial enlargement
8815	BANF1	HP:0002756	Pathologic fracture
8815	BANF1	HP:0011800	Midface retrusion
8815	BANF1	HP:0002094	Dyspnea
8815	BANF1	HP:0002092	Pulmonary arterial hypertension
8815	BANF1	HP:0100578	Lipoatrophy
8815	BANF1	HP:0011712	Right bundle branch block
8815	BANF1	HP:0011703	Sinus tachycardia
8815	BANF1	HP:0010537	Wide cranial sutures
8815	BANF1	HP:0002209	Sparse scalp hair
8815	BANF1	HP:0008404	Nail dystrophy
8815	BANF1	HP:0002280	Enlarged cisterna magna
8815	BANF1	HP:0002389	Cavum septum pellucidum
8815	BANF1	HP:0001015	Prominent superficial veins
8815	BANF1	HP:0009839	Osteolytic defects of the distal phalanges of the hand
8815	BANF1	HP:0034047	Rib osteolysis
8815	BANF1	HP:0034046	Mandibular osteolysis
8815	BANF1	HP:0005585	Spotty hyperpigmentation
8815	BANF1	HP:0000678	Dental crowding
8815	BANF1	HP:0000689	Dental malocclusion
8815	BANF1	HP:0000653	Sparse eyelashes
8815	BANF1	HP:0004322	Short stature
8815	BANF1	HP:0011463	Childhood onset
8815	BANF1	HP:0000905	Progressive clavicular acroosteolysis
8815	BANF1	HP:0030718	Right atrial enlargement
8815	BANF1	HP:0000883	Thin ribs
8815	BANF1	HP:0000822	Hypertension
8815	BANF1	HP:0003292	Decreased serum leptin
8815	BANF1	HP:0045075	Sparse eyebrow
8815	BANF1	HP:0000958	Dry skin
8815	BANF1	HP:0000939	Osteoporosis
8815	BANF1	HP:0001596	Alopecia
8815	BANF1	HP:0000233	Thin vermilion border
8815	BANF1	HP:0001508	Failure to thrive
8815	BANF1	HP:0001510	Growth delay
8815	BANF1	HP:0002996	Limited elbow movement
8815	BANF1	HP:0000347	Micrognathia
8815	BANF1	HP:0001653	Mitral regurgitation
8815	BANF1	HP:0000308	Microretrognathia
8815	BANF1	HP:0005328	Progeroid facial appearance
8815	BANF1	HP:0000444	Convex nasal ridge
8815	BANF1	HP:0000520	Proptosis
8818	DPM2	HP:0002476	Primitive reflex
8818	DPM2	HP:0010851	EEG with burst suppression
8818	DPM2	HP:0002421	Poor head control
8818	DPM2	HP:0001290	Generalized hypotonia
8818	DPM2	HP:0001250	Seizure
8818	DPM2	HP:0001263	Global developmental delay
8818	DPM2	HP:0410362	Decreased O-mannosyl glycans on alpha-dystroglycan
8818	DPM2	HP:0002518	Abnormal periventricular white matter morphology
8818	DPM2	HP:0001344	Absent speech
8818	DPM2	HP:0000007	Autosomal recessive inheritance
8818	DPM2	HP:0002650	Scoliosis
8818	DPM2	HP:0001321	Cerebellar hypoplasia
8818	DPM2	HP:0002643	Neonatal respiratory distress
8818	DPM2	HP:0002002	Deep philtrum
8818	DPM2	HP:0002098	Respiratory distress
8818	DPM2	HP:0002058	Myopathic facies
8818	DPM2	HP:0040288	Nasogastric tube feeding
8818	DPM2	HP:0002123	Generalized myoclonic seizure
8818	DPM2	HP:0003577	Congenital onset
8818	DPM2	HP:0002240	Hepatomegaly
8818	DPM2	HP:0002205	Recurrent respiratory infections
8818	DPM2	HP:0200134	Epileptic encephalopathy
8818	DPM2	HP:0011968	Feeding difficulties
8818	DPM2	HP:0002375	Hypokinesia
8818	DPM2	HP:0003642	Type I transferrin isoform profile
8818	DPM2	HP:0007179	Absent smooth pursuit
8818	DPM2	HP:0006829	Severe muscular hypotonia
8818	DPM2	HP:0001976	Reduced antithrombin III activity
8818	DPM2	HP:0000648	Optic atrophy
8818	DPM2	HP:0000601	Hypotelorism
8818	DPM2	HP:0000689	Dental malocclusion
8818	DPM2	HP:0001999	Abnormal facial shape
8818	DPM2	HP:0012762	Cerebral white matter atrophy
8818	DPM2	HP:0005781	Contractures of the large joints
8818	DPM2	HP:0003196	Short nose
8818	DPM2	HP:0003160	Abnormal isoelectric focusing of serum transferrin
8818	DPM2	HP:0003236	Elevated circulating creatine kinase concentration
8818	DPM2	HP:0003241	External genital hypoplasia
8818	DPM2	HP:0000938	Osteopenia
8818	DPM2	HP:0000294	Low anterior hairline
8818	DPM2	HP:0002803	Congenital contracture
8818	DPM2	HP:0000243	Trigonocephaly
8818	DPM2	HP:0000253	Progressive microcephaly
8818	DPM2	HP:0000219	Thin upper lip vermilion
8818	DPM2	HP:0000218	High palate
8818	DPM2	HP:0001561	Polyhydramnios
8818	DPM2	HP:0001522	Death in infancy
8818	DPM2	HP:0001508	Failure to thrive
8818	DPM2	HP:0002910	Elevated hepatic transaminase
8818	DPM2	HP:0000347	Micrognathia
8818	DPM2	HP:0011169	Generalized clonic seizure
8818	DPM2	HP:0000486	Strabismus
8818	DPM2	HP:0005484	Secondary microcephaly
8820	HESX1	HP:0001161	Hand polydactyly
8820	HESX1	HP:0009888	Abnormality of secondary sexual hair
8820	HESX1	HP:0001274	Agenesis of corpus callosum
8820	HESX1	HP:0001288	Gait disturbance
8820	HESX1	HP:0001254	Lethargy
8820	HESX1	HP:0001250	Seizure
8820	HESX1	HP:0001252	Hypotonia
8820	HESX1	HP:0001251	Ataxia
8820	HESX1	HP:0001249	Intellectual disability
8820	HESX1	HP:0001265	Hyporeflexia
8820	HESX1	HP:0001260	Dysarthria
8820	HESX1	HP:0001263	Global developmental delay
8820	HESX1	HP:0002575	Tracheoesophageal fistula
8820	HESX1	HP:0100842	Septo-optic dysplasia
8820	HESX1	HP:0008734	Decreased testicular size
8820	HESX1	HP:0008736	Hypoplasia of penis
8820	HESX1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
8820	HESX1	HP:0031098	Decreased thyroid-stimulating hormone level
8820	HESX1	HP:0000044	Hypogonadotropic hypogonadism
8820	HESX1	HP:0000054	Micropenis
8820	HESX1	HP:0001360	Holoprosencephaly
8820	HESX1	HP:0000028	Cryptorchidism
8820	HESX1	HP:0008872	Feeding difficulties in infancy
8820	HESX1	HP:0008828	Delayed proximal femoral epiphyseal ossification
8820	HESX1	HP:0001331	Absent septum pellucidum
8820	HESX1	HP:0001324	Muscle weakness
8820	HESX1	HP:0000008	Abnormal morphology of female internal genitalia
8820	HESX1	HP:0000007	Autosomal recessive inheritance
8820	HESX1	HP:0001335	Bimanual synkinesia
8820	HESX1	HP:0001337	Tremor
8820	HESX1	HP:0000006	Autosomal dominant inheritance
8820	HESX1	HP:0002652	Skeletal dysplasia
8820	HESX1	HP:0001317	Abnormal cerebellum morphology
8820	HESX1	HP:0002615	Hypotension
8820	HESX1	HP:0025483	Abnormal circulating thyroglobulin level
8820	HESX1	HP:0000158	Macroglossia
8820	HESX1	HP:0000175	Cleft palate
8820	HESX1	HP:0000144	Decreased fertility
8820	HESX1	HP:0000141	Amenorrhea
8820	HESX1	HP:0002757	Recurrent fractures
8820	HESX1	HP:0031218	Inappropriate antidiuretic hormone secretion
8820	HESX1	HP:0031219	Reduced radioactive iodine uptake
8820	HESX1	HP:0000104	Renal agenesis
8820	HESX1	HP:0002750	Delayed skeletal maturation
8820	HESX1	HP:0002019	Constipation
8820	HESX1	HP:0002032	Esophageal atresia
8820	HESX1	HP:0005990	Thyroid hypoplasia
8820	HESX1	HP:0004637	Decreased cervical spine mobility
8820	HESX1	HP:0011800	Midface retrusion
8820	HESX1	HP:0002045	Hypothermia
8820	HESX1	HP:0010442	Polydactyly
8820	HESX1	HP:0011755	Ectopic posterior pituitary
8820	HESX1	HP:0005930	Abnormal epiphysis morphology
8820	HESX1	HP:0008187	Absence of secondary sex characteristics
8820	HESX1	HP:0008245	Pituitary hypothyroidism
8820	HESX1	HP:0010550	Paraplegia
8820	HESX1	HP:0008202	Reduced circulating prolactin concentration
8820	HESX1	HP:0010627	Anterior pituitary hypoplasia
8820	HESX1	HP:0010626	Anterior pituitary agenesis
8820	HESX1	HP:0002360	Sleep disturbance
8820	HESX1	HP:0008501	Median cleft lip and palate
8820	HESX1	HP:0009804	Tooth agenesis
8820	HESX1	HP:0009800	Maternal diabetes
8820	HESX1	HP:0100639	Erectile dysfunction
8820	HESX1	HP:0000639	Nystagmus
8820	HESX1	HP:0001943	Hypoglycemia
8820	HESX1	HP:0001959	Polydipsia
8820	HESX1	HP:0000609	Optic nerve hypoplasia
8820	HESX1	HP:0011344	Severe global developmental delay
8820	HESX1	HP:0001999	Abnormal facial shape
8820	HESX1	HP:0004322	Short stature
8820	HESX1	HP:0005625	Osteoporosis of vertebrae
8820	HESX1	HP:0030680	Abnormality of cardiovascular system morphology
8820	HESX1	HP:0004374	Hemiplegia/hemiparesis
8820	HESX1	HP:0004349	Reduced bone mineral density
8820	HESX1	HP:0000771	Gynecomastia
8820	HESX1	HP:0012731	Ectopic anterior pituitary gland
8820	HESX1	HP:0000717	Autism
8820	HESX1	HP:0011437	Maternal autoimmune disease
8820	HESX1	HP:0012758	Neurodevelopmental delay
8820	HESX1	HP:0000789	Infertility
8820	HESX1	HP:0000786	Primary amenorrhea
8820	HESX1	HP:0004409	Hyposmia
8820	HESX1	HP:0003187	Breast hypoplasia
8820	HESX1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
8820	HESX1	HP:0004491	Large posterior fontanelle
8820	HESX1	HP:0000873	Diabetes insipidus
8820	HESX1	HP:0000871	Panhypopituitarism
8820	HESX1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
8820	HESX1	HP:0000839	Pituitary dwarfism
8820	HESX1	HP:0000835	Adrenal hypoplasia
8820	HESX1	HP:0000830	Anterior hypopituitarism
8820	HESX1	HP:0000821	Hypothyroidism
8820	HESX1	HP:0000824	Decreased response to growth hormone stimulation test
8820	HESX1	HP:0000823	Delayed puberty
8820	HESX1	HP:0040075	Hypopituitarism
8820	HESX1	HP:0040086	Abnormal prolactin level
8820	HESX1	HP:0010311	Aplasia/Hypoplasia of the breasts
8820	HESX1	HP:0000958	Dry skin
8820	HESX1	HP:0000966	Hypohidrosis
8820	HESX1	HP:0000938	Osteopenia
8820	HESX1	HP:0008064	Ichthyosis
8820	HESX1	HP:0009381	Short finger
8820	HESX1	HP:0000282	Facial edema
8820	HESX1	HP:0000270	Delayed cranial suture closure
8820	HESX1	HP:0007766	Optic disc hypoplasia
8820	HESX1	HP:0025502	Overweight
8820	HESX1	HP:0030016	Dyspareunia
8820	HESX1	HP:0001522	Death in infancy
8820	HESX1	HP:0001537	Umbilical hernia
8820	HESX1	HP:0001508	Failure to thrive
8820	HESX1	HP:0001510	Growth delay
8820	HESX1	HP:0001513	Obesity
8820	HESX1	HP:0031507	Decreased circulating T4 concentration
8820	HESX1	HP:0012378	Fatigue
8820	HESX1	HP:0006579	Prolonged neonatal jaundice
8820	HESX1	HP:0001608	Abnormality of the voice
8820	HESX1	HP:0002920	Decreased circulating ACTH level
8820	HESX1	HP:0001662	Bradycardia
8820	HESX1	HP:0000407	Sensorineural hearing impairment
8820	HESX1	HP:0005280	Depressed nasal bridge
8820	HESX1	HP:0000486	Strabismus
8820	HESX1	HP:0000478	Abnormality of the eye
8820	HESX1	HP:0000458	Anosmia
8820	HESX1	HP:0000457	Depressed nasal ridge
8820	HESX1	HP:0000470	Short neck
8820	HESX1	HP:0001763	Pes planus
8820	HESX1	HP:0001761	Pes cavus
8820	HESX1	HP:0011297	Abnormal digit morphology
8820	HESX1	HP:0000508	Ptosis
8820	HESX1	HP:0000505	Visual impairment
8820	HESX1	HP:0030344	Decreased circulating luteinizing hormone level
8820	HESX1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
8820	HESX1	HP:0011220	Prominent forehead
8820	HESX1	HP:0000551	Color vision defect
8822	FGF17	HP:0003782	Eunuchoid habitus
8822	FGF17	HP:0001288	Gait disturbance
8822	FGF17	HP:0001250	Seizure
8822	FGF17	HP:0001252	Hypotonia
8822	FGF17	HP:0001251	Ataxia
8822	FGF17	HP:0001260	Dysarthria
8822	FGF17	HP:0008734	Decreased testicular size
8822	FGF17	HP:0008736	Hypoplasia of penis
8822	FGF17	HP:0008724	Hypoplasia of the ovary
8822	FGF17	HP:0000044	Hypogonadotropic hypogonadism
8822	FGF17	HP:0000054	Micropenis
8822	FGF17	HP:0000026	Male hypogonadism
8822	FGF17	HP:0000028	Cryptorchidism
8822	FGF17	HP:0000027	Azoospermia
8822	FGF17	HP:0000002	Abnormality of body height
8822	FGF17	HP:0001324	Muscle weakness
8822	FGF17	HP:0000013	Hypoplasia of the uterus
8822	FGF17	HP:0000008	Abnormal morphology of female internal genitalia
8822	FGF17	HP:0000007	Autosomal recessive inheritance
8822	FGF17	HP:0001335	Bimanual synkinesia
8822	FGF17	HP:0001337	Tremor
8822	FGF17	HP:0000006	Autosomal dominant inheritance
8822	FGF17	HP:0002652	Skeletal dysplasia
8822	FGF17	HP:0000164	Abnormality of the dentition
8822	FGF17	HP:0000175	Cleft palate
8822	FGF17	HP:0000144	Decreased fertility
8822	FGF17	HP:0000135	Hypogonadism
8822	FGF17	HP:0000118	Phenotypic abnormality
8822	FGF17	HP:0000134	Female hypogonadism
8822	FGF17	HP:0002761	Generalized joint laxity
8822	FGF17	HP:0002757	Recurrent fractures
8822	FGF17	HP:0000104	Renal agenesis
8822	FGF17	HP:0002750	Delayed skeletal maturation
8822	FGF17	HP:0008197	Absence of pubertal development
8822	FGF17	HP:0008187	Absence of secondary sex characteristics
8822	FGF17	HP:0010550	Paraplegia
8822	FGF17	HP:0002215	Sparse axillary hair
8822	FGF17	HP:0002231	Sparse body hair
8822	FGF17	HP:0002225	Sparse pubic hair
8822	FGF17	HP:0011961	Non-obstructive azoospermia
8822	FGF17	HP:0008527	Congenital sensorineural hearing impairment
8822	FGF17	HP:0009804	Tooth agenesis
8822	FGF17	HP:0100639	Erectile dysfunction
8822	FGF17	HP:0003621	Juvenile onset
8822	FGF17	HP:0000639	Nystagmus
8822	FGF17	HP:0030680	Abnormality of cardiovascular system morphology
8822	FGF17	HP:0000802	Impotence
8822	FGF17	HP:0004349	Reduced bone mineral density
8822	FGF17	HP:0000771	Gynecomastia
8822	FGF17	HP:0000739	Anxiety
8822	FGF17	HP:0000716	Depression
8822	FGF17	HP:0000789	Infertility
8822	FGF17	HP:0000786	Primary amenorrhea
8822	FGF17	HP:0004409	Hyposmia
8822	FGF17	HP:0004408	Abnormality of the sense of smell
8822	FGF17	HP:0003187	Breast hypoplasia
8822	FGF17	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
8822	FGF17	HP:0000869	Secondary amenorrhea
8822	FGF17	HP:0000830	Anterior hypopituitarism
8822	FGF17	HP:0000823	Delayed puberty
8822	FGF17	HP:0000939	Osteoporosis
8822	FGF17	HP:0000938	Osteopenia
8822	FGF17	HP:0040171	Decreased serum testosterone concentration
8822	FGF17	HP:0008064	Ichthyosis
8822	FGF17	HP:0030016	Dyspareunia
8822	FGF17	HP:0030019	Increased female libido
8822	FGF17	HP:0001513	Obesity
8822	FGF17	HP:0012385	Camptodactyly
8822	FGF17	HP:0001608	Abnormality of the voice
8822	FGF17	HP:0000316	Hypertelorism
8822	FGF17	HP:0006610	Wide intermamillary distance
8822	FGF17	HP:0000407	Sensorineural hearing impairment
8822	FGF17	HP:0005280	Depressed nasal bridge
8822	FGF17	HP:0000458	Anosmia
8822	FGF17	HP:0001763	Pes planus
8822	FGF17	HP:0001761	Pes cavus
8822	FGF17	HP:0000508	Ptosis
8822	FGF17	HP:0000505	Visual impairment
8822	FGF17	HP:0000551	Color vision defect
8823	FGF16	HP:0001419	X-linked recessive inheritance
8823	FGF16	HP:0003577	Congenital onset
8823	FGF16	HP:0004209	Clinodactyly of the 5th finger
8823	FGF16	HP:0010047	Short 5th metacarpal
8823	FGF16	HP:0005709	2-3 toe cutaneous syndactyly
8823	FGF16	HP:0005867	4-5 metacarpal synostosis
8831	SYNGAP1	HP:0001159	Syndactyly
8831	SYNGAP1	HP:0002465	Poor speech
8831	SYNGAP1	HP:0002463	Language impairment
8831	SYNGAP1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
8831	SYNGAP1	HP:0009928	Thick nasal alae
8831	SYNGAP1	HP:0007256	Abnormal pyramidal sign
8831	SYNGAP1	HP:0020208	Eating-induced seizure
8831	SYNGAP1	HP:0010864	Intellectual disability, severe
8831	SYNGAP1	HP:0002421	Poor head control
8831	SYNGAP1	HP:0001298	Encephalopathy
8831	SYNGAP1	HP:0001290	Generalized hypotonia
8831	SYNGAP1	HP:0001273	Abnormal corpus callosum morphology
8831	SYNGAP1	HP:0001270	Motor delay
8831	SYNGAP1	HP:0001268	Mental deterioration
8831	SYNGAP1	HP:0001288	Gait disturbance
8831	SYNGAP1	HP:0001250	Seizure
8831	SYNGAP1	HP:0001252	Hypotonia
8831	SYNGAP1	HP:0001251	Ataxia
8831	SYNGAP1	HP:0001249	Intellectual disability
8831	SYNGAP1	HP:0001265	Hyporeflexia
8831	SYNGAP1	HP:0001263	Global developmental delay
8831	SYNGAP1	HP:0001257	Spasticity
8831	SYNGAP1	HP:0008770	Obsessive-compulsive trait
8831	SYNGAP1	HP:0410263	Brain imaging abnormality
8831	SYNGAP1	HP:0100851	Abnormal emotion/affect behavior
8831	SYNGAP1	HP:0007359	Focal-onset seizure
8831	SYNGAP1	HP:0002521	Hypsarrhythmia
8831	SYNGAP1	HP:0002509	Limb hypertonia
8831	SYNGAP1	HP:0000047	Hypospadias
8831	SYNGAP1	HP:0008872	Feeding difficulties in infancy
8831	SYNGAP1	HP:0001326	EEG with irregular generalized spike and wave complexes
8831	SYNGAP1	HP:0001344	Absent speech
8831	SYNGAP1	HP:0001337	Tremor
8831	SYNGAP1	HP:0000006	Autosomal dominant inheritance
8831	SYNGAP1	HP:0001336	Myoclonus
8831	SYNGAP1	HP:0001315	Reduced tendon reflexes
8831	SYNGAP1	HP:0000179	Thick lower lip vermilion
8831	SYNGAP1	HP:0000160	Narrow mouth
8831	SYNGAP1	HP:0000154	Wide mouth
8831	SYNGAP1	HP:0002020	Gastroesophageal reflux
8831	SYNGAP1	HP:0005988	Congenital muscular torticollis
8831	SYNGAP1	HP:0002069	Bilateral tonic-clonic seizure
8831	SYNGAP1	HP:0002063	Rigidity
8831	SYNGAP1	HP:0002059	Cerebral atrophy
8831	SYNGAP1	HP:0002123	Generalized myoclonic seizure
8831	SYNGAP1	HP:0002121	Generalized non-motor (absence) seizure
8831	SYNGAP1	HP:0002133	Status epilepticus
8831	SYNGAP1	HP:0002197	Generalized-onset seizure
8831	SYNGAP1	HP:0003593	Infantile onset
8831	SYNGAP1	HP:0100710	Impulsivity
8831	SYNGAP1	HP:0200134	Epileptic encephalopathy
8831	SYNGAP1	HP:0100738	Abnormal eating behavior
8831	SYNGAP1	HP:0002292	Frontal balding
8831	SYNGAP1	HP:0007018	Attention deficit hyperactivity disorder
8831	SYNGAP1	HP:0011968	Feeding difficulties
8831	SYNGAP1	HP:0002392	EEG with polyspike wave complexes
8831	SYNGAP1	HP:0002360	Sleep disturbance
8831	SYNGAP1	HP:0002376	Developmental regression
8831	SYNGAP1	HP:0002370	Poor coordination
8831	SYNGAP1	HP:0002342	Intellectual disability, moderate
8831	SYNGAP1	HP:0002355	Difficulty walking
8831	SYNGAP1	HP:0002353	EEG abnormality
8831	SYNGAP1	HP:0002317	Unsteady gait
8831	SYNGAP1	HP:0002332	Lack of peer relationships
8831	SYNGAP1	HP:0010845	EEG with generalized slow activity
8831	SYNGAP1	HP:0010844	EEG with multifocal slow activity
8831	SYNGAP1	HP:0010832	Abnormality of pain sensation
8831	SYNGAP1	HP:0100660	Dyskinesia
8831	SYNGAP1	HP:0010819	Atonic seizure
8831	SYNGAP1	HP:0100678	Premature skin wrinkling
8831	SYNGAP1	HP:0002307	Drooling
8831	SYNGAP1	HP:0000639	Nystagmus
8831	SYNGAP1	HP:0000648	Optic atrophy
8831	SYNGAP1	HP:0000668	Hypodontia
8831	SYNGAP1	HP:0001999	Abnormal facial shape
8831	SYNGAP1	HP:0004322	Short stature
8831	SYNGAP1	HP:0004305	Involuntary movements
8831	SYNGAP1	HP:0000752	Hyperactivity
8831	SYNGAP1	HP:0100023	Recurrent hand flapping
8831	SYNGAP1	HP:0000735	Impaired social interactions
8831	SYNGAP1	HP:0000750	Delayed speech and language development
8831	SYNGAP1	HP:0012703	Abnormal subarachnoid space morphology
8831	SYNGAP1	HP:0000717	Autism
8831	SYNGAP1	HP:0000729	Autistic behavior
8831	SYNGAP1	HP:0000708	Atypical behavior
8831	SYNGAP1	HP:0011443	Abnormality of coordination
8831	SYNGAP1	HP:0040080	Anteverted ears
8831	SYNGAP1	HP:0030810	Abnormal tongue physiology
8831	SYNGAP1	HP:0100259	Postaxial polydactyly
8831	SYNGAP1	HP:0000992	Cutaneous photosensitivity
8831	SYNGAP1	HP:0000289	Broad philtrum
8831	SYNGAP1	HP:0000276	Long face
8831	SYNGAP1	HP:0000252	Microcephaly
8831	SYNGAP1	HP:0000219	Thin upper lip vermilion
8831	SYNGAP1	HP:0000218	High palate
8831	SYNGAP1	HP:0000233	Thin vermilion border
8831	SYNGAP1	HP:0001558	Decreased fetal movement
8831	SYNGAP1	HP:0001508	Failure to thrive
8831	SYNGAP1	HP:0011097	Epileptic spasm
8831	SYNGAP1	HP:0000343	Long philtrum
8831	SYNGAP1	HP:0000348	High forehead
8831	SYNGAP1	HP:0000325	Triangular face
8831	SYNGAP1	HP:0011197	EEG with focal spike waves
8831	SYNGAP1	HP:0011182	Interictal epileptiform activity
8831	SYNGAP1	HP:0011171	Simple febrile seizure
8831	SYNGAP1	HP:0011170	Generalized myoclonic-atonic seizure
8831	SYNGAP1	HP:0011150	Myoclonic absence seizure
8831	SYNGAP1	HP:0000400	Macrotia
8831	SYNGAP1	HP:0000486	Strabismus
8831	SYNGAP1	HP:0000494	Downslanted palpebral fissures
8831	SYNGAP1	HP:0000490	Deeply set eye
8831	SYNGAP1	HP:0000463	Anteverted nares
8831	SYNGAP1	HP:0012444	Brain atrophy
8831	SYNGAP1	HP:0012447	Abnormal myelination
8831	SYNGAP1	HP:0000473	Torticollis
8831	SYNGAP1	HP:0000431	Wide nasal bridge
8831	SYNGAP1	HP:0000508	Ptosis
8831	SYNGAP1	HP:0000504	Abnormality of vision
8831	SYNGAP1	HP:0012547	Abnormal involuntary eye movements
8831	SYNGAP1	HP:0011220	Prominent forehead
8831	SYNGAP1	HP:0000568	Microphthalmia
8831	SYNGAP1	HP:0000546	Retinal degeneration
8838	CCN6	HP:0001225	Wrist swelling
8838	CCN6	HP:0100864	Short femoral neck
8838	CCN6	HP:0002515	Waddling gait
8838	CCN6	HP:0001376	Limitation of joint mobility
8838	CCN6	HP:0001386	Joint swelling
8838	CCN6	HP:0001387	Joint stiffness
8838	CCN6	HP:0001384	Abnormal hip joint morphology
8838	CCN6	HP:0008833	Irregular acetabular roof
8838	CCN6	HP:0006163	Enlarged metacarpophalangeal joints
8838	CCN6	HP:0001324	Muscle weakness
8838	CCN6	HP:0002655	Spondyloepiphyseal dysplasia
8838	CCN6	HP:0000007	Autosomal recessive inheritance
8838	CCN6	HP:0002650	Scoliosis
8838	CCN6	HP:0032436	Abnormal circulating C-reactive protein concentration
8838	CCN6	HP:0025477	Periarticular calcification
8838	CCN6	HP:0006256	Abnormality of hand joint mobility
8838	CCN6	HP:0006247	Enlarged interphalangeal joints
8838	CCN6	HP:0002758	Osteoarthritis
8838	CCN6	HP:0002751	Kyphoscoliosis
8838	CCN6	HP:0003307	Hyperlordosis
8838	CCN6	HP:0004637	Decreased cervical spine mobility
8838	CCN6	HP:0003301	Irregular vertebral endplates
8838	CCN6	HP:0003370	Flat capital femoral epiphysis
8838	CCN6	HP:0003371	Enlargement of the proximal femoral epiphysis
8838	CCN6	HP:0003388	Easy fatigability
8838	CCN6	HP:0004603	Hyperconvex vertebral body endplates
8838	CCN6	HP:0009473	Joint contracture of the hand
8838	CCN6	HP:0003423	Thoracolumbar kyphoscoliosis
8838	CCN6	HP:0100490	Camptodactyly of finger
8838	CCN6	HP:0010580	Enlarged epiphyses
8838	CCN6	HP:0025021	Abnormal erythrocyte sedimentation rate
8838	CCN6	HP:0002355	Difficulty walking
8838	CCN6	HP:0009811	Abnormality of the elbow
8838	CCN6	HP:0008422	Vertebral wedging
8838	CCN6	HP:0004267	Narrow small joints of the hand
8838	CCN6	HP:0004322	Short stature
8838	CCN6	HP:0003071	Flattened epiphysis
8838	CCN6	HP:0003043	Abnormal shoulder morphology
8838	CCN6	HP:0003040	Arthropathy
8838	CCN6	HP:0003016	Metaphyseal widening
8838	CCN6	HP:0011406	Infancy onset short-trunk short stature
8838	CCN6	HP:0000926	Platyspondyly
8838	CCN6	HP:0004576	Sclerotic vertebral endplates
8838	CCN6	HP:0004568	Beaking of vertebral bodies
8838	CCN6	HP:0004582	Irregularity of vertebral bodies
8838	CCN6	HP:0000939	Osteoporosis
8838	CCN6	HP:0040160	Generalized osteoporosis
8838	CCN6	HP:0006429	Broad femoral neck
8838	CCN6	HP:0002815	Abnormality of the knee
8838	CCN6	HP:0002812	Coxa vara
8838	CCN6	HP:0002829	Arthralgia
8838	CCN6	HP:0002857	Genu valgum
8838	CCN6	HP:0002867	Abnormal ilium morphology
8838	CCN6	HP:0012385	Camptodactyly
8838	CCN6	HP:0005195	Polyarticular arthropathy
8838	CCN6	HP:0002923	Rheumatoid factor positive
8838	CCN6	HP:0002970	Genu varum
8838	CCN6	HP:0000464	Abnormality of the neck
8838	CCN6	HP:0001760	Abnormal foot morphology
8842	PROM1	HP:0001141	Severely reduced visual acuity
8842	PROM1	HP:0001249	Intellectual disability
8842	PROM1	HP:0008736	Hypoplasia of penis
8842	PROM1	HP:0012045	Retinal flecks
8842	PROM1	HP:0001347	Hyperreflexia
8842	PROM1	HP:0000035	Abnormal testis morphology
8842	PROM1	HP:0000007	Autosomal recessive inheritance
8842	PROM1	HP:0000006	Autosomal dominant inheritance
8842	PROM1	HP:0000135	Hypogonadism
8842	PROM1	HP:0007675	Progressive night blindness
8842	PROM1	HP:0007663	Reduced visual acuity
8842	PROM1	HP:0007641	Dyschromatopsia
8842	PROM1	HP:0005978	Type II diabetes mellitus
8842	PROM1	HP:0008323	Abnormal light- and dark-adapted electroretinogram
8842	PROM1	HP:0030500	Yellow/white lesions of the macula
8842	PROM1	HP:0000639	Nystagmus
8842	PROM1	HP:0000649	Abnormality of visual evoked potentials
8842	PROM1	HP:0000648	Optic atrophy
8842	PROM1	HP:0000618	Blindness
8842	PROM1	HP:0000613	Photophobia
8842	PROM1	HP:0000610	Abnormal choroid morphology
8842	PROM1	HP:0000608	Macular degeneration
8842	PROM1	HP:0000602	Ophthalmoplegia
8842	PROM1	HP:0000603	Central scotoma
8842	PROM1	HP:0000662	Nyctalopia
8842	PROM1	HP:0030629	Perifoveal ring of hyperautofluorescence
8842	PROM1	HP:0011463	Childhood onset
8842	PROM1	HP:0011504	Bull's eye maculopathy
8842	PROM1	HP:0000842	Hyperinsulinemia
8842	PROM1	HP:0008002	Abnormality of macular pigmentation
8842	PROM1	HP:0000987	Atypical scarring of skin
8842	PROM1	HP:0008059	Aplasia/Hypoplasia of the macula
8842	PROM1	HP:0008046	Abnormal retinal vascular morphology
8842	PROM1	HP:0007722	Retinal pigment epithelial atrophy
8842	PROM1	HP:0007703	Abnormality of retinal pigmentation
8842	PROM1	HP:0007704	Paroxysmal involuntary eye movements
8842	PROM1	HP:0007793	Granular macular appearance
8842	PROM1	HP:0007754	Macular dystrophy
8842	PROM1	HP:0007737	Bone spicule pigmentation of the retina
8842	PROM1	HP:0001513	Obesity
8842	PROM1	HP:0007843	Attenuation of retinal blood vessels
8842	PROM1	HP:0007814	Retinal pigment epithelial mottling
8842	PROM1	HP:0030329	Retinal thinning
8842	PROM1	HP:0007994	Peripheral visual field loss
8842	PROM1	HP:0000407	Sensorineural hearing impairment
8842	PROM1	HP:0000405	Conductive hearing impairment
8842	PROM1	HP:0000493	Abnormal foveal morphology
8842	PROM1	HP:0000463	Anteverted nares
8842	PROM1	HP:0000431	Wide nasal bridge
8842	PROM1	HP:0000518	Cataract
8842	PROM1	HP:0000510	Rod-cone dystrophy
8842	PROM1	HP:0000512	Abnormal electroretinogram
8842	PROM1	HP:0000505	Visual impairment
8842	PROM1	HP:0000501	Glaucoma
8842	PROM1	HP:0000580	Pigmentary retinopathy
8842	PROM1	HP:0000563	Keratoconus
8842	PROM1	HP:0000550	Undetectable electroretinogram
8842	PROM1	HP:0000551	Color vision defect
8842	PROM1	HP:0000548	Cone/cone-rod dystrophy
8842	PROM1	HP:0000543	Optic disc pallor
8854	ALDH1A2	HP:0006101	Finger syndactyly
8854	ALDH1A2	HP:0000028	Cryptorchidism
8854	ALDH1A2	HP:0000007	Autosomal recessive inheritance
8854	ALDH1A2	HP:0002643	Neonatal respiratory distress
8854	ALDH1A2	HP:0002616	Aortic root aneurysm
8854	ALDH1A2	HP:0002719	Recurrent infections
8854	ALDH1A2	HP:0004691	2-3 toe syndactyly
8854	ALDH1A2	HP:0002089	Pulmonary hypoplasia
8854	ALDH1A2	HP:0002092	Pulmonary arterial hypertension
8854	ALDH1A2	HP:0003417	Coronal cleft vertebrae
8854	ALDH1A2	HP:0002240	Hepatomegaly
8854	ALDH1A2	HP:0004971	Pulmonary artery hypoplasia
8854	ALDH1A2	HP:0031834	Aortopulmonary collateral arteries
8854	ALDH1A2	HP:0004209	Clinodactyly of the 5th finger
8854	ALDH1A2	HP:0000609	Optic nerve hypoplasia
8854	ALDH1A2	HP:0030674	Antenatal onset
8854	ALDH1A2	HP:0009110	Diaphragmatic eventration
8854	ALDH1A2	HP:0009112	Aplasia of the left hemidiaphragm
8854	ALDH1A2	HP:0000878	11 pairs of ribs
8854	ALDH1A2	HP:0011604	Aortopulmonary window
8854	ALDH1A2	HP:0000256	Macrocephaly
8854	ALDH1A2	HP:0001561	Polyhydramnios
8854	ALDH1A2	HP:0000369	Low-set ears
8854	ALDH1A2	HP:0000347	Micrognathia
8854	ALDH1A2	HP:0000331	Short chin
8854	ALDH1A2	HP:0001629	Ventricular septal defect
8854	ALDH1A2	HP:0000494	Downslanted palpebral fissures
8854	ALDH1A2	HP:0000465	Webbed neck
8854	ALDH1A2	HP:0000414	Bulbous nose
8854	ALDH1A2	HP:0001762	Talipes equinovarus
8863	PER3	HP:0000006	Autosomal dominant inheritance
8863	PER3	HP:0031873	Early chronotype
8863	PER3	HP:0000716	Depression
8864	PER2	HP:0000006	Autosomal dominant inheritance
8864	PER2	HP:0031873	Early chronotype
8864	PER2	HP:0006979	Sleep-wake cycle disturbance
8864	PER2	HP:0000716	Depression
8867	SYNJ1	HP:0007311	Short stepped shuffling gait
8867	SYNJ1	HP:0007256	Abnormal pyramidal sign
8867	SYNJ1	HP:0002421	Poor head control
8867	SYNJ1	HP:0002425	Anarthria
8867	SYNJ1	HP:0001298	Encephalopathy
8867	SYNJ1	HP:0025269	Panic attack
8867	SYNJ1	HP:0001290	Generalized hypotonia
8867	SYNJ1	HP:0001273	Abnormal corpus callosum morphology
8867	SYNJ1	HP:0001268	Mental deterioration
8867	SYNJ1	HP:0001288	Gait disturbance
8867	SYNJ1	HP:0001250	Seizure
8867	SYNJ1	HP:0001252	Hypotonia
8867	SYNJ1	HP:0001251	Ataxia
8867	SYNJ1	HP:0001249	Intellectual disability
8867	SYNJ1	HP:0002578	Gastroparesis
8867	SYNJ1	HP:0001265	Hyporeflexia
8867	SYNJ1	HP:0001260	Dysarthria
8867	SYNJ1	HP:0001263	Global developmental delay
8867	SYNJ1	HP:0001257	Spasticity
8867	SYNJ1	HP:0002540	Inability to walk
8867	SYNJ1	HP:0002521	Hypsarrhythmia
8867	SYNJ1	HP:0002510	Spastic tetraplegia
8867	SYNJ1	HP:0002509	Limb hypertonia
8867	SYNJ1	HP:0001347	Hyperreflexia
8867	SYNJ1	HP:0001332	Dystonia
8867	SYNJ1	HP:0033725	Thin corpus callosum
8867	SYNJ1	HP:0000007	Autosomal recessive inheritance
8867	SYNJ1	HP:0001337	Tremor
8867	SYNJ1	HP:0001336	Myoclonus
8867	SYNJ1	HP:0002650	Scoliosis
8867	SYNJ1	HP:0001315	Reduced tendon reflexes
8867	SYNJ1	HP:0001300	Parkinsonism
8867	SYNJ1	HP:0008969	Leg muscle stiffness
8867	SYNJ1	HP:0025403	Stooped posture
8867	SYNJ1	HP:0025401	Staring gaze
8867	SYNJ1	HP:0002020	Gastroesophageal reflux
8867	SYNJ1	HP:0002018	Nausea
8867	SYNJ1	HP:0002019	Constipation
8867	SYNJ1	HP:0040307	Male sexual dysfunction
8867	SYNJ1	HP:0002014	Diarrhea
8867	SYNJ1	HP:0002015	Dysphagia
8867	SYNJ1	HP:0100543	Cognitive impairment
8867	SYNJ1	HP:0002069	Bilateral tonic-clonic seizure
8867	SYNJ1	HP:0002067	Bradykinesia
8867	SYNJ1	HP:0002066	Gait ataxia
8867	SYNJ1	HP:0003394	Muscle spasm
8867	SYNJ1	HP:0002063	Rigidity
8867	SYNJ1	HP:0002059	Cerebral atrophy
8867	SYNJ1	HP:0002141	Gait imbalance
8867	SYNJ1	HP:0002151	Increased serum lactate
8867	SYNJ1	HP:0002120	Cerebral cortical atrophy
8867	SYNJ1	HP:0002133	Status epilepticus
8867	SYNJ1	HP:0002187	Intellectual disability, profound
8867	SYNJ1	HP:0002172	Postural instability
8867	SYNJ1	HP:0003593	Infantile onset
8867	SYNJ1	HP:0100710	Impulsivity
8867	SYNJ1	HP:0100785	Insomnia
8867	SYNJ1	HP:0200134	Epileptic encephalopathy
8867	SYNJ1	HP:0007018	Attention deficit hyperactivity disorder
8867	SYNJ1	HP:0011968	Feeding difficulties
8867	SYNJ1	HP:0002362	Shuffling gait
8867	SYNJ1	HP:0002376	Developmental regression
8867	SYNJ1	HP:0002344	Progressive neurologic deterioration
8867	SYNJ1	HP:0003676	Progressive
8867	SYNJ1	HP:0002355	Difficulty walking
8867	SYNJ1	HP:0002322	Resting tremor
8867	SYNJ1	HP:0002317	Unsteady gait
8867	SYNJ1	HP:0010844	EEG with multifocal slow activity
8867	SYNJ1	HP:0100660	Dyskinesia
8867	SYNJ1	HP:0007164	Slowed slurred speech
8867	SYNJ1	HP:0003623	Neonatal onset
8867	SYNJ1	HP:0002304	Akinesia
8867	SYNJ1	HP:0000639	Nystagmus
8867	SYNJ1	HP:0000651	Diplopia
8867	SYNJ1	HP:0000648	Optic atrophy
8867	SYNJ1	HP:0000605	Supranuclear gaze palsy
8867	SYNJ1	HP:0000658	Eyelid apraxia
8867	SYNJ1	HP:0012638	Abnormal nervous system physiology
8867	SYNJ1	HP:0000668	Hypodontia
8867	SYNJ1	HP:0004322	Short stature
8867	SYNJ1	HP:0004305	Involuntary movements
8867	SYNJ1	HP:0100022	Abnormality of movement
8867	SYNJ1	HP:0000738	Hallucinations
8867	SYNJ1	HP:0000739	Anxiety
8867	SYNJ1	HP:0000736	Short attention span
8867	SYNJ1	HP:0000735	Impaired social interactions
8867	SYNJ1	HP:0000750	Delayed speech and language development
8867	SYNJ1	HP:0000741	Apathy
8867	SYNJ1	HP:0000716	Depression
8867	SYNJ1	HP:0000717	Autism
8867	SYNJ1	HP:0000713	Agitation
8867	SYNJ1	HP:0000727	Frontal lobe dementia
8867	SYNJ1	HP:0000726	Dementia
8867	SYNJ1	HP:0000708	Atypical behavior
8867	SYNJ1	HP:0011443	Abnormality of coordination
8867	SYNJ1	HP:0004409	Hyposmia
8867	SYNJ1	HP:0003236	Elevated circulating creatine kinase concentration
8867	SYNJ1	HP:0000252	Microcephaly
8867	SYNJ1	HP:0032660	Convulsive status epilepticus
8867	SYNJ1	HP:0001558	Decreased fetal movement
8867	SYNJ1	HP:0030014	Female sexual dysfunction
8867	SYNJ1	HP:0001508	Failure to thrive
8867	SYNJ1	HP:0011097	Epileptic spasm
8867	SYNJ1	HP:0012378	Fatigue
8867	SYNJ1	HP:0012332	Abnormal autonomic nervous system physiology
8867	SYNJ1	HP:0000338	Hypomimic face
8867	SYNJ1	HP:0032792	Tonic seizure
8867	SYNJ1	HP:0000348	High forehead
8867	SYNJ1	HP:0032794	Myoclonic seizure
8867	SYNJ1	HP:0001621	Weak voice
8867	SYNJ1	HP:0000494	Downslanted palpebral fissures
8867	SYNJ1	HP:0012444	Brain atrophy
8867	SYNJ1	HP:0012447	Abnormal myelination
8867	SYNJ1	HP:0012452	Restless legs
8867	SYNJ1	HP:0025710	Late young adult onset
8867	SYNJ1	HP:0001761	Pes cavus
8867	SYNJ1	HP:0025709	Intermediate young adult onset
8867	SYNJ1	HP:0000508	Ptosis
8867	SYNJ1	HP:0000505	Visual impairment
8867	SYNJ1	HP:0000504	Abnormality of vision
8867	SYNJ1	HP:0012547	Abnormal involuntary eye movements
8867	SYNJ1	HP:0000551	Color vision defect
8867	SYNJ1	HP:0000546	Retinal degeneration
8869	ST3GAL5	HP:0001252	Hypotonia
8869	ST3GAL5	HP:0001266	Choreoathetosis
8869	ST3GAL5	HP:0001263	Global developmental delay
8869	ST3GAL5	HP:0008872	Feeding difficulties in infancy
8869	ST3GAL5	HP:0001344	Absent speech
8869	ST3GAL5	HP:0000007	Autosomal recessive inheritance
8869	ST3GAL5	HP:0001336	Myoclonus
8869	ST3GAL5	HP:0002013	Vomiting
8869	ST3GAL5	HP:0002069	Bilateral tonic-clonic seizure
8869	ST3GAL5	HP:0002133	Status epilepticus
8869	ST3GAL5	HP:0003593	Infantile onset
8869	ST3GAL5	HP:0100704	Cerebral visual impairment
8869	ST3GAL5	HP:0002283	Global brain atrophy
8869	ST3GAL5	HP:0002395	Lower limb hyperreflexia
8869	ST3GAL5	HP:0001034	Hypermelanotic macule
8869	ST3GAL5	HP:0002376	Developmental regression
8869	ST3GAL5	HP:0010841	Multifocal epileptiform discharges
8869	ST3GAL5	HP:0003623	Neonatal onset
8869	ST3GAL5	HP:0006834	Developmental stagnation at onset of seizures
8869	ST3GAL5	HP:0000648	Optic atrophy
8869	ST3GAL5	HP:0000737	Irritability
8869	ST3GAL5	HP:0000252	Microcephaly
8869	ST3GAL5	HP:0001508	Failure to thrive
8869	ST3GAL5	HP:0012391	Hyporeflexia of upper limbs
8869	ST3GAL5	HP:0000365	Hearing impairment
8869	ST3GAL5	HP:0000572	Visual loss
8878	SQSTM1	HP:0002493	Upper motor neuron dysfunction
8878	SQSTM1	HP:0002465	Poor speech
8878	SQSTM1	HP:0002463	Language impairment
8878	SQSTM1	HP:0002460	Distal muscle weakness
8878	SQSTM1	HP:0002442	Dyscalculia
8878	SQSTM1	HP:0002446	Astrocytosis
8878	SQSTM1	HP:0008619	Bilateral sensorineural hearing impairment
8878	SQSTM1	HP:0007256	Abnormal pyramidal sign
8878	SQSTM1	HP:0020203	Z-band streaming
8878	SQSTM1	HP:0003701	Proximal muscle weakness
8878	SQSTM1	HP:0003700	Generalized amyotrophy
8878	SQSTM1	HP:0001272	Cerebellar atrophy
8878	SQSTM1	HP:0001268	Mental deterioration
8878	SQSTM1	HP:0001288	Gait disturbance
8878	SQSTM1	HP:0001283	Bulbar palsy
8878	SQSTM1	HP:0001251	Ataxia
8878	SQSTM1	HP:0001265	Hyporeflexia
8878	SQSTM1	HP:0001260	Dysarthria
8878	SQSTM1	HP:0001257	Spasticity
8878	SQSTM1	HP:0007373	Motor neuron atrophy
8878	SQSTM1	HP:0007354	Amyotrophic lateral sclerosis
8878	SQSTM1	HP:0002500	Abnormal cerebral white matter morphology
8878	SQSTM1	HP:0003805	Rimmed vacuoles
8878	SQSTM1	HP:0000020	Urinary incontinence
8878	SQSTM1	HP:0001347	Hyperreflexia
8878	SQSTM1	HP:0001332	Dystonia
8878	SQSTM1	HP:0001324	Muscle weakness
8878	SQSTM1	HP:0000007	Autosomal recessive inheritance
8878	SQSTM1	HP:0002669	Osteosarcoma
8878	SQSTM1	HP:0001337	Tremor
8878	SQSTM1	HP:0000006	Autosomal dominant inheritance
8878	SQSTM1	HP:0001310	Dysmetria
8878	SQSTM1	HP:0002653	Bone pain
8878	SQSTM1	HP:0001300	Parkinsonism
8878	SQSTM1	HP:0002797	Osteolysis
8878	SQSTM1	HP:0025425	Laryngospasm
8878	SQSTM1	HP:0008959	Distal upper limb muscle weakness
8878	SQSTM1	HP:0008954	Intrinsic hand muscle atrophy
8878	SQSTM1	HP:0002795	Abnormal respiratory system physiology
8878	SQSTM1	HP:0031237	Internally nucleated skeletal muscle fibers
8878	SQSTM1	HP:0002017	Nausea and vomiting
8878	SQSTM1	HP:0002015	Dysphagia
8878	SQSTM1	HP:0003324	Generalized muscle weakness
8878	SQSTM1	HP:0100543	Cognitive impairment
8878	SQSTM1	HP:0002094	Dyspnea
8878	SQSTM1	HP:0002069	Bilateral tonic-clonic seizure
8878	SQSTM1	HP:0002066	Gait ataxia
8878	SQSTM1	HP:0003394	Muscle spasm
8878	SQSTM1	HP:0002075	Dysdiadochokinesis
8878	SQSTM1	HP:0002073	Progressive cerebellar ataxia
8878	SQSTM1	HP:0002070	Limb ataxia
8878	SQSTM1	HP:0002071	Abnormality of extrapyramidal motor function
8878	SQSTM1	HP:0003376	Steppage gait
8878	SQSTM1	HP:0008180	Mildly elevated creatine kinase
8878	SQSTM1	HP:0002145	Frontotemporal dementia
8878	SQSTM1	HP:0003470	Paralysis
8878	SQSTM1	HP:0003487	Babinski sign
8878	SQSTM1	HP:0002120	Cerebral cortical atrophy
8878	SQSTM1	HP:0002127	Abnormal upper motor neuron morphology
8878	SQSTM1	HP:0003458	EMG: myopathic abnormalities
8878	SQSTM1	HP:0003438	Absent Achilles reflex
8878	SQSTM1	HP:0002186	Apraxia
8878	SQSTM1	HP:0002180	Neurodegeneration
8878	SQSTM1	HP:0002171	Gliosis
8878	SQSTM1	HP:0010549	Weakness due to upper motor neuron dysfunction
8878	SQSTM1	HP:0010529	Echolalia
8878	SQSTM1	HP:0010522	Dyslexia
8878	SQSTM1	HP:0010526	Dysgraphia
8878	SQSTM1	HP:0002273	Tetraparesis
8878	SQSTM1	HP:0003557	Increased variability in muscle fiber diameter
8878	SQSTM1	HP:0002283	Global brain atrophy
8878	SQSTM1	HP:0008322	Abnormal mitochondrial morphology
8878	SQSTM1	HP:0010628	Facial palsy
8878	SQSTM1	HP:0002385	Paraparesis
8878	SQSTM1	HP:0002380	Fasciculations
8878	SQSTM1	HP:0002381	Aphasia
8878	SQSTM1	HP:0002366	Abnormal lower motor neuron morphology
8878	SQSTM1	HP:0003691	Scapular winging
8878	SQSTM1	HP:0002371	Loss of speech
8878	SQSTM1	HP:0003676	Progressive
8878	SQSTM1	HP:0002355	Difficulty walking
8878	SQSTM1	HP:0002354	Memory impairment
8878	SQSTM1	HP:0002314	Degeneration of the lateral corticospinal tracts
8878	SQSTM1	HP:0100660	Dyskinesia
8878	SQSTM1	HP:0007149	Distal upper limb amyotrophy
8878	SQSTM1	HP:0002300	Mutism
8878	SQSTM1	HP:0002312	Clumsiness
8878	SQSTM1	HP:0007190	Neuronal loss in the cerebral cortex
8878	SQSTM1	HP:0009077	Weakness of long finger extensor muscles
8878	SQSTM1	HP:0006892	Frontotemporal cerebral atrophy
8878	SQSTM1	HP:0000639	Nystagmus
8878	SQSTM1	HP:0000605	Supranuclear gaze palsy
8878	SQSTM1	HP:0012671	Abulia
8878	SQSTM1	HP:0009027	Foot dorsiflexor weakness
8878	SQSTM1	HP:0012658	Abnormal brain FDG positron emission tomography
8878	SQSTM1	HP:0000657	Oculomotor apraxia
8878	SQSTM1	HP:0003084	Fractures of the long bones
8878	SQSTM1	HP:0005686	Patchy osteosclerosis
8878	SQSTM1	HP:0000757	Lack of insight
8878	SQSTM1	HP:0000751	Personality changes
8878	SQSTM1	HP:0000738	Hallucinations
8878	SQSTM1	HP:0000737	Irritability
8878	SQSTM1	HP:0000739	Anxiety
8878	SQSTM1	HP:0000734	Disinhibition
8878	SQSTM1	HP:0000733	Abnormal repetitive mannerisms
8878	SQSTM1	HP:0000741	Apathy
8878	SQSTM1	HP:0000719	Inappropriate behavior
8878	SQSTM1	HP:0000716	Depression
8878	SQSTM1	HP:0000718	Aggressive behavior
8878	SQSTM1	HP:0000712	Emotional lability
8878	SQSTM1	HP:0000711	Restlessness
8878	SQSTM1	HP:0000713	Agitation
8878	SQSTM1	HP:0000710	Hyperorality
8878	SQSTM1	HP:0000723	Restrictive behavior
8878	SQSTM1	HP:0000709	Psychosis
8878	SQSTM1	HP:0000708	Atypical behavior
8878	SQSTM1	HP:0003198	Myopathy
8878	SQSTM1	HP:0003155	Elevated circulating alkaline phosphatase concentration
8878	SQSTM1	HP:0000815	Hypergonadotropic hypogonadism
8878	SQSTM1	HP:0003236	Elevated circulating creatine kinase concentration
8878	SQSTM1	HP:0003202	Skeletal muscle atrophy
8878	SQSTM1	HP:0000217	Xerostomia
8878	SQSTM1	HP:0002878	Respiratory failure
8878	SQSTM1	HP:0012378	Fatigue
8878	SQSTM1	HP:0030196	Fatigable weakness of respiratory muscles
8878	SQSTM1	HP:0030195	Fatigable weakness of swallowing muscles
8878	SQSTM1	HP:0030192	Fatigable weakness of bulbar muscles
8878	SQSTM1	HP:0000365	Hearing impairment
8878	SQSTM1	HP:0001638	Cardiomyopathy
8878	SQSTM1	HP:0030213	Emotional blunting
8878	SQSTM1	HP:0030212	Collectionism
8878	SQSTM1	HP:0030223	Manifestations of perseverative thought or action
8878	SQSTM1	HP:0000474	Thickened nuchal skin fold
8878	SQSTM1	HP:0000511	Vertical supranuclear gaze palsy
8878	SQSTM1	HP:0000508	Ptosis
8878	SQSTM1	HP:0011204	EEG with continuous slow activity
8878	SQSTM1	HP:0012531	Pain
8879	SGPL1	HP:0003774	Stage 5 chronic kidney disease
8879	SGPL1	HP:0001290	Generalized hypotonia
8879	SGPL1	HP:0001268	Mental deterioration
8879	SGPL1	HP:0001250	Seizure
8879	SGPL1	HP:0001251	Ataxia
8879	SGPL1	HP:0001263	Global developmental delay
8879	SGPL1	HP:0000097	Focal segmental glomerulosclerosis
8879	SGPL1	HP:0000093	Proteinuria
8879	SGPL1	HP:0000054	Micropenis
8879	SGPL1	HP:0000028	Cryptorchidism
8879	SGPL1	HP:0000007	Autosomal recessive inheritance
8879	SGPL1	HP:0000135	Hypogonadism
8879	SGPL1	HP:0031266	Podocyte foot process effacement
8879	SGPL1	HP:0000100	Nephrotic syndrome
8879	SGPL1	HP:0002155	Hypertriglyceridemia
8879	SGPL1	HP:0003593	Infantile onset
8879	SGPL1	HP:0002376	Developmental regression
8879	SGPL1	HP:0003676	Progressive
8879	SGPL1	HP:0009830	Peripheral neuropathy
8879	SGPL1	HP:0003621	Juvenile onset
8879	SGPL1	HP:0001967	Diffuse mesangial sclerosis
8879	SGPL1	HP:0001943	Hypoglycemia
8879	SGPL1	HP:0003073	Hypoalbuminemia
8879	SGPL1	HP:0011463	Childhood onset
8879	SGPL1	HP:0000846	Adrenal insufficiency
8879	SGPL1	HP:0000821	Hypothyroidism
8879	SGPL1	HP:0000953	Hyperpigmentation of the skin
8879	SGPL1	HP:0000969	Edema
8879	SGPL1	HP:0008064	Ichthyosis
8879	SGPL1	HP:0000252	Microcephaly
8879	SGPL1	HP:0000407	Sensorineural hearing impairment
8879	SGPL1	HP:0000486	Strabismus
8879	SGPL1	HP:0000508	Ptosis
8879	SGPL1	HP:0012588	Steroid-resistant nephrotic syndrome
8879	SGPL1	HP:0012574	Mesangial hypercellularity
8879	SGPL1	HP:0001888	Lymphopenia
8882	ZPR1	HP:0002566	Intestinal malrotation
8882	ZPR1	HP:0008734	Decreased testicular size
8882	ZPR1	HP:0008724	Hypoplasia of the ovary
8882	ZPR1	HP:0000089	Renal hypoplasia
8882	ZPR1	HP:0001397	Hepatic steatosis
8882	ZPR1	HP:0001371	Flexion contracture
8882	ZPR1	HP:0000054	Micropenis
8882	ZPR1	HP:0007513	Generalized hypopigmentation
8882	ZPR1	HP:0000007	Autosomal recessive inheritance
8882	ZPR1	HP:0000185	Cleft soft palate
8882	ZPR1	HP:0002714	Downturned corners of mouth
8882	ZPR1	HP:0002157	Azotemia
8882	ZPR1	HP:0008278	Cerebellar cortical atrophy
8882	ZPR1	HP:0430009	Hypoplasia of eyelid
8882	ZPR1	HP:0000648	Optic atrophy
8882	ZPR1	HP:0001974	Leukocytosis
8882	ZPR1	HP:0000609	Optic nerve hypoplasia
8882	ZPR1	HP:0011344	Severe global developmental delay
8882	ZPR1	HP:0000662	Nyctalopia
8882	ZPR1	HP:0004322	Short stature
8882	ZPR1	HP:0012743	Abdominal obesity
8882	ZPR1	HP:0003196	Short nose
8882	ZPR1	HP:0000293	Full cheeks
8882	ZPR1	HP:0001596	Alopecia
8882	ZPR1	HP:0000238	Hydrocephalus
8882	ZPR1	HP:0000252	Microcephaly
8882	ZPR1	HP:0002857	Genu valgum
8882	ZPR1	HP:0001511	Intrauterine growth retardation
8882	ZPR1	HP:0000319	Smooth philtrum
8882	ZPR1	HP:0000490	Deeply set eye
8882	ZPR1	HP:0000444	Convex nasal ridge
8882	ZPR1	HP:0011220	Prominent forehead
8882	ZPR1	HP:0000556	Retinal dystrophy
8884	SLC5A6	HP:0002421	Poor head control
8884	SLC5A6	HP:0001272	Cerebellar atrophy
8884	SLC5A6	HP:0001250	Seizure
8884	SLC5A6	HP:0001249	Intellectual disability
8884	SLC5A6	HP:0001263	Global developmental delay
8884	SLC5A6	HP:0001257	Spasticity
8884	SLC5A6	HP:0002572	Episodic vomiting
8884	SLC5A6	HP:0033685	Fiber type grouping
8884	SLC5A6	HP:0002522	Areflexia of lower limbs
8884	SLC5A6	HP:0000023	Inguinal hernia
8884	SLC5A6	HP:0000007	Autosomal recessive inheritance
8884	SLC5A6	HP:0001310	Dysmetria
8884	SLC5A6	HP:0012110	Hypoplasia of the pons
8884	SLC5A6	HP:0003393	Thenar muscle atrophy
8884	SLC5A6	HP:0002079	Hypoplasia of the corpus callosum
8884	SLC5A6	HP:0002075	Dysdiadochokinesis
8884	SLC5A6	HP:0002059	Cerebral atrophy
8884	SLC5A6	HP:0002126	Polymicrogyria
8884	SLC5A6	HP:0003593	Infantile onset
8884	SLC5A6	HP:0002216	Premature graying of hair
8884	SLC5A6	HP:0002280	Enlarged cisterna magna
8884	SLC5A6	HP:0100759	Clubbing of fingers
8884	SLC5A6	HP:0009830	Peripheral neuropathy
8884	SLC5A6	HP:0003621	Juvenile onset
8884	SLC5A6	HP:0007181	Interosseus muscle atrophy
8884	SLC5A6	HP:0000639	Nystagmus
8884	SLC5A6	HP:0009053	Distal lower limb muscle weakness
8884	SLC5A6	HP:0004315	Decreased circulating IgG level
8884	SLC5A6	HP:0100021	Cerebral palsy
8884	SLC5A6	HP:0011471	Gastrostomy tube feeding in infancy
8884	SLC5A6	HP:0000252	Microcephaly
8884	SLC5A6	HP:0001644	Dilated cardiomyopathy
8888	MCM3AP	HP:0001171	Split hand
8888	MCM3AP	HP:0002460	Distal muscle weakness
8888	MCM3AP	HP:0007328	Impaired pain sensation
8888	MCM3AP	HP:0001270	Motor delay
8888	MCM3AP	HP:0001256	Intellectual disability, mild
8888	MCM3AP	HP:0001252	Hypotonia
8888	MCM3AP	HP:0001251	Ataxia
8888	MCM3AP	HP:0001249	Intellectual disability
8888	MCM3AP	HP:0001265	Hyporeflexia
8888	MCM3AP	HP:0002522	Areflexia of lower limbs
8888	MCM3AP	HP:0002505	Loss of ambulation
8888	MCM3AP	HP:0000007	Autosomal recessive inheritance
8888	MCM3AP	HP:0002650	Scoliosis
8888	MCM3AP	HP:0002705	High, narrow palate
8888	MCM3AP	HP:0003477	Peripheral axonal neuropathy
8888	MCM3AP	HP:0008209	Premature ovarian insufficiency
8888	MCM3AP	HP:0003577	Congenital onset
8888	MCM3AP	HP:0003677	Slowly progressive
8888	MCM3AP	HP:0002317	Unsteady gait
8888	MCM3AP	HP:0007141	Sensorimotor neuropathy
8888	MCM3AP	HP:0003621	Juvenile onset
8888	MCM3AP	HP:0000602	Ophthalmoplegia
8888	MCM3AP	HP:0009027	Foot dorsiflexor weakness
8888	MCM3AP	HP:0004322	Short stature
8888	MCM3AP	HP:0031936	Delayed ability to walk
8888	MCM3AP	HP:0000750	Delayed speech and language development
8888	MCM3AP	HP:0011463	Childhood onset
8888	MCM3AP	HP:0002808	Kyphosis
8888	MCM3AP	HP:0002870	Obstructive sleep apnea
8888	MCM3AP	HP:0001513	Obesity
8888	MCM3AP	HP:0002936	Distal sensory impairment
8888	MCM3AP	HP:0000486	Strabismus
8888	MCM3AP	HP:0000496	Abnormality of eye movement
8888	MCM3AP	HP:0001761	Pes cavus
8890	EIF2B4	HP:0007305	CNS demyelination
8890	EIF2B4	HP:0001290	Generalized hypotonia
8890	EIF2B4	HP:0001288	Gait disturbance
8890	EIF2B4	HP:0001254	Lethargy
8890	EIF2B4	HP:0001250	Seizure
8890	EIF2B4	HP:0001252	Hypotonia
8890	EIF2B4	HP:0001260	Dysarthria
8890	EIF2B4	HP:0001257	Spasticity
8890	EIF2B4	HP:0000007	Autosomal recessive inheritance
8890	EIF2B4	HP:0008193	Primary gonadal insufficiency
8890	EIF2B4	HP:0002171	Gliosis
8890	EIF2B4	HP:0008233	Decreased circulating progesterone
8890	EIF2B4	HP:0008209	Premature ovarian insufficiency
8890	EIF2B4	HP:0002376	Developmental regression
8890	EIF2B4	HP:0002354	Memory impairment
8890	EIF2B4	HP:0002352	Leukoencephalopathy
8890	EIF2B4	HP:0002317	Unsteady gait
8890	EIF2B4	HP:0003621	Juvenile onset
8890	EIF2B4	HP:0006808	Cerebral hypomyelination
8890	EIF2B4	HP:0000648	Optic atrophy
8890	EIF2B4	HP:0000618	Blindness
8890	EIF2B4	HP:0001945	Fever
8890	EIF2B4	HP:0000751	Personality changes
8890	EIF2B4	HP:0000746	Delusions
8890	EIF2B4	HP:0000712	Emotional lability
8890	EIF2B4	HP:0000786	Primary amenorrhea
8890	EIF2B4	HP:0004485	Cessation of head growth
8890	EIF2B4	HP:0000869	Secondary amenorrhea
8890	EIF2B4	HP:0000256	Macrocephaly
8891	EIF2B3	HP:0007305	CNS demyelination
8891	EIF2B3	HP:0001290	Generalized hypotonia
8891	EIF2B3	HP:0001288	Gait disturbance
8891	EIF2B3	HP:0001254	Lethargy
8891	EIF2B3	HP:0001250	Seizure
8891	EIF2B3	HP:0001252	Hypotonia
8891	EIF2B3	HP:0001260	Dysarthria
8891	EIF2B3	HP:0001257	Spasticity
8891	EIF2B3	HP:0000007	Autosomal recessive inheritance
8891	EIF2B3	HP:0008193	Primary gonadal insufficiency
8891	EIF2B3	HP:0002171	Gliosis
8891	EIF2B3	HP:0008233	Decreased circulating progesterone
8891	EIF2B3	HP:0008209	Premature ovarian insufficiency
8891	EIF2B3	HP:0002376	Developmental regression
8891	EIF2B3	HP:0002354	Memory impairment
8891	EIF2B3	HP:0002352	Leukoencephalopathy
8891	EIF2B3	HP:0002317	Unsteady gait
8891	EIF2B3	HP:0003621	Juvenile onset
8891	EIF2B3	HP:0006808	Cerebral hypomyelination
8891	EIF2B3	HP:0000648	Optic atrophy
8891	EIF2B3	HP:0000618	Blindness
8891	EIF2B3	HP:0001945	Fever
8891	EIF2B3	HP:0000751	Personality changes
8891	EIF2B3	HP:0000746	Delusions
8891	EIF2B3	HP:0000712	Emotional lability
8891	EIF2B3	HP:0000786	Primary amenorrhea
8891	EIF2B3	HP:0004485	Cessation of head growth
8891	EIF2B3	HP:0000869	Secondary amenorrhea
8891	EIF2B3	HP:0000256	Macrocephaly
8892	EIF2B2	HP:0007305	CNS demyelination
8892	EIF2B2	HP:0001290	Generalized hypotonia
8892	EIF2B2	HP:0001288	Gait disturbance
8892	EIF2B2	HP:0001254	Lethargy
8892	EIF2B2	HP:0001250	Seizure
8892	EIF2B2	HP:0001252	Hypotonia
8892	EIF2B2	HP:0001260	Dysarthria
8892	EIF2B2	HP:0001257	Spasticity
8892	EIF2B2	HP:0000007	Autosomal recessive inheritance
8892	EIF2B2	HP:0008193	Primary gonadal insufficiency
8892	EIF2B2	HP:0002171	Gliosis
8892	EIF2B2	HP:0008233	Decreased circulating progesterone
8892	EIF2B2	HP:0008209	Premature ovarian insufficiency
8892	EIF2B2	HP:0002376	Developmental regression
8892	EIF2B2	HP:0002354	Memory impairment
8892	EIF2B2	HP:0002352	Leukoencephalopathy
8892	EIF2B2	HP:0002317	Unsteady gait
8892	EIF2B2	HP:0003621	Juvenile onset
8892	EIF2B2	HP:0006808	Cerebral hypomyelination
8892	EIF2B2	HP:0000648	Optic atrophy
8892	EIF2B2	HP:0000618	Blindness
8892	EIF2B2	HP:0001945	Fever
8892	EIF2B2	HP:0000751	Personality changes
8892	EIF2B2	HP:0000746	Delusions
8892	EIF2B2	HP:0000712	Emotional lability
8892	EIF2B2	HP:0000786	Primary amenorrhea
8892	EIF2B2	HP:0004485	Cessation of head growth
8892	EIF2B2	HP:0000869	Secondary amenorrhea
8892	EIF2B2	HP:0000256	Macrocephaly
8893	EIF2B5	HP:0007305	CNS demyelination
8893	EIF2B5	HP:0001290	Generalized hypotonia
8893	EIF2B5	HP:0001288	Gait disturbance
8893	EIF2B5	HP:0001254	Lethargy
8893	EIF2B5	HP:0001250	Seizure
8893	EIF2B5	HP:0001252	Hypotonia
8893	EIF2B5	HP:0001260	Dysarthria
8893	EIF2B5	HP:0001257	Spasticity
8893	EIF2B5	HP:0000007	Autosomal recessive inheritance
8893	EIF2B5	HP:0008193	Primary gonadal insufficiency
8893	EIF2B5	HP:0002171	Gliosis
8893	EIF2B5	HP:0008233	Decreased circulating progesterone
8893	EIF2B5	HP:0008209	Premature ovarian insufficiency
8893	EIF2B5	HP:0002376	Developmental regression
8893	EIF2B5	HP:0002354	Memory impairment
8893	EIF2B5	HP:0002352	Leukoencephalopathy
8893	EIF2B5	HP:0002317	Unsteady gait
8893	EIF2B5	HP:0003621	Juvenile onset
8893	EIF2B5	HP:0006808	Cerebral hypomyelination
8893	EIF2B5	HP:0000648	Optic atrophy
8893	EIF2B5	HP:0000618	Blindness
8893	EIF2B5	HP:0001945	Fever
8893	EIF2B5	HP:0000751	Personality changes
8893	EIF2B5	HP:0000746	Delusions
8893	EIF2B5	HP:0000712	Emotional lability
8893	EIF2B5	HP:0000786	Primary amenorrhea
8893	EIF2B5	HP:0004485	Cessation of head growth
8893	EIF2B5	HP:0000869	Secondary amenorrhea
8893	EIF2B5	HP:0000256	Macrocephaly
8898	MTMR2	HP:0002460	Distal muscle weakness
8898	MTMR2	HP:0007208	Irregular myelin loops
8898	MTMR2	HP:0003701	Proximal muscle weakness
8898	MTMR2	HP:0001270	Motor delay
8898	MTMR2	HP:0000007	Autosomal recessive inheritance
8898	MTMR2	HP:0002650	Scoliosis
8898	MTMR2	HP:0003431	Decreased motor nerve conduction velocity
8898	MTMR2	HP:0010628	Facial palsy
8898	MTMR2	HP:0003693	Distal amyotrophy
8898	MTMR2	HP:0004336	Myelin outfoldings
8898	MTMR2	HP:0006958	Abnormal auditory evoked potentials
8898	MTMR2	HP:0002936	Distal sensory impairment
8898	MTMR2	HP:0001762	Talipes equinovarus
8905	AP1S2	HP:0002465	Poor speech
8905	AP1S2	HP:0010864	Intellectual disability, severe
8905	AP1S2	HP:0001290	Generalized hypotonia
8905	AP1S2	HP:0001288	Gait disturbance
8905	AP1S2	HP:0001250	Seizure
8905	AP1S2	HP:0001252	Hypotonia
8905	AP1S2	HP:0001249	Intellectual disability
8905	AP1S2	HP:0001264	Spastic diplegia
8905	AP1S2	HP:0001266	Choreoathetosis
8905	AP1S2	HP:0001263	Global developmental delay
8905	AP1S2	HP:0001257	Spasticity
8905	AP1S2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
8905	AP1S2	HP:0002514	Cerebral calcification
8905	AP1S2	HP:0001371	Flexion contracture
8905	AP1S2	HP:0000023	Inguinal hernia
8905	AP1S2	HP:0002684	Thickened calvaria
8905	AP1S2	HP:0001347	Hyperreflexia
8905	AP1S2	HP:0000028	Cryptorchidism
8905	AP1S2	HP:0001305	Dandy-Walker malformation
8905	AP1S2	HP:0002650	Scoliosis
8905	AP1S2	HP:0001317	Abnormal cerebellum morphology
8905	AP1S2	HP:0000194	Open mouth
8905	AP1S2	HP:0000154	Wide mouth
8905	AP1S2	HP:0001419	X-linked recessive inheritance
8905	AP1S2	HP:0001417	X-linked inheritance
8905	AP1S2	HP:0002066	Gait ataxia
8905	AP1S2	HP:0002120	Cerebral cortical atrophy
8905	AP1S2	HP:0002119	Ventriculomegaly
8905	AP1S2	HP:0002134	Abnormal basal ganglia morphology
8905	AP1S2	HP:0002187	Intellectual disability, profound
8905	AP1S2	HP:0003593	Infantile onset
8905	AP1S2	HP:0100716	Self-injurious behavior
8905	AP1S2	HP:0011968	Feeding difficulties
8905	AP1S2	HP:0002342	Intellectual disability, moderate
8905	AP1S2	HP:0002353	EEG abnormality
8905	AP1S2	HP:0001999	Abnormal facial shape
8905	AP1S2	HP:0004322	Short stature
8905	AP1S2	HP:0000718	Aggressive behavior
8905	AP1S2	HP:0000729	Autistic behavior
8905	AP1S2	HP:0003198	Myopathy
8905	AP1S2	HP:0003189	Long nose
8905	AP1S2	HP:0003202	Skeletal muscle atrophy
8905	AP1S2	HP:0000280	Coarse facial features
8905	AP1S2	HP:0000256	Macrocephaly
8905	AP1S2	HP:0000276	Long face
8905	AP1S2	HP:0005101	High-frequency hearing impairment
8905	AP1S2	HP:0000238	Hydrocephalus
8905	AP1S2	HP:0000252	Microcephaly
8905	AP1S2	HP:0000218	High palate
8905	AP1S2	HP:0000365	Hearing impairment
8905	AP1S2	HP:0000348	High forehead
8905	AP1S2	HP:0000331	Short chin
8905	AP1S2	HP:0000322	Short philtrum
8905	AP1S2	HP:0000325	Triangular face
8905	AP1S2	HP:0000303	Mandibular prognathia
8905	AP1S2	HP:0000407	Sensorineural hearing impairment
8905	AP1S2	HP:0000400	Macrotia
8905	AP1S2	HP:0000486	Strabismus
8905	AP1S2	HP:0012471	Thick vermilion border
8905	AP1S2	HP:0000490	Deeply set eye
8905	AP1S2	HP:0000448	Prominent nose
8905	AP1S2	HP:0000411	Protruding ear
8905	AP1S2	HP:0000587	Abnormal optic nerve morphology
8905	AP1S2	HP:0011220	Prominent forehead
8910	SGCE	HP:0025269	Panic attack
8910	SGCE	HP:0001252	Hypotonia
8910	SGCE	HP:0003829	Typified by incomplete penetrance
8910	SGCE	HP:0012075	Personality disorder
8910	SGCE	HP:0001332	Dystonia
8910	SGCE	HP:0001337	Tremor
8910	SGCE	HP:0000006	Autosomal dominant inheritance
8910	SGCE	HP:0001336	Myoclonus
8910	SGCE	HP:0030955	Alcoholism
8910	SGCE	HP:0010531	Spinal myoclonus
8910	SGCE	HP:0002356	Writer's cramp
8910	SGCE	HP:0003621	Juvenile onset
8910	SGCE	HP:0000756	Agoraphobia
8910	SGCE	HP:0000739	Anxiety
8910	SGCE	HP:0000716	Depression
8910	SGCE	HP:0000722	Compulsive behaviors
8910	SGCE	HP:0011463	Childhood onset
8910	SGCE	HP:0045084	Limb myoclonus
8910	SGCE	HP:0000473	Torticollis
8911	CACNA1I	HP:0001250	Seizure
8911	CACNA1I	HP:0001252	Hypotonia
8911	CACNA1I	HP:0001249	Intellectual disability
8911	CACNA1I	HP:0002540	Inability to walk
8911	CACNA1I	HP:0001344	Absent speech
8911	CACNA1I	HP:0000006	Autosomal dominant inheritance
8911	CACNA1I	HP:0000194	Open mouth
8911	CACNA1I	HP:0002020	Gastroesophageal reflux
8911	CACNA1I	HP:0002079	Hypoplasia of the corpus callosum
8911	CACNA1I	HP:0002188	Delayed CNS myelination
8911	CACNA1I	HP:0010536	Central sleep apnea
8911	CACNA1I	HP:0002267	Exaggerated startle response
8911	CACNA1I	HP:0003596	Middle age onset
8911	CACNA1I	HP:0003593	Infantile onset
8911	CACNA1I	HP:0100704	Cerebral visual impairment
8911	CACNA1I	HP:0011968	Feeding difficulties
8911	CACNA1I	HP:0003623	Neonatal onset
8911	CACNA1I	HP:0002307	Drooling
8911	CACNA1I	HP:0011344	Severe global developmental delay
8911	CACNA1I	HP:0000675	Macrodontia of permanent maxillary central incisor
8911	CACNA1I	HP:0000716	Depression
8911	CACNA1I	HP:0011463	Childhood onset
8911	CACNA1I	HP:0000365	Hearing impairment
8911	CACNA1I	HP:0012471	Thick vermilion border
8911	CACNA1I	HP:0012444	Brain atrophy
8912	CACNA1H	HP:0001249	Intellectual disability
8912	CACNA1H	HP:0000020	Urinary incontinence
8912	CACNA1H	HP:0001328	Specific learning disability
8912	CACNA1H	HP:0000006	Autosomal dominant inheritance
8912	CACNA1H	HP:0002069	Bilateral tonic-clonic seizure
8912	CACNA1H	HP:0010522	Dyslexia
8912	CACNA1H	HP:0003593	Infantile onset
8912	CACNA1H	HP:0007018	Attention deficit hyperactivity disorder
8912	CACNA1H	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
8912	CACNA1H	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
8912	CACNA1H	HP:0010794	Impaired visuospatial constructive cognition
8912	CACNA1H	HP:0003621	Juvenile onset
8912	CACNA1H	HP:0006961	Jerky head movements
8912	CACNA1H	HP:0000739	Anxiety
8912	CACNA1H	HP:0000716	Depression
8912	CACNA1H	HP:0011463	Childhood onset
8912	CACNA1H	HP:0000859	Hyperaldosteronism
8912	CACNA1H	HP:0000822	Hypertension
8912	CACNA1H	HP:0045084	Limb myoclonus
8912	CACNA1H	HP:0000980	Pallor
8912	CACNA1H	HP:0007738	Uncontrolled eye movements
8912	CACNA1H	HP:0002883	Hyperventilation
8912	CACNA1H	HP:0031469	Low self esteem
8912	CACNA1H	HP:0011147	Typical absence seizure
8912	CACNA1H	HP:0011150	Myoclonic absence seizure
8912	CACNA1H	HP:0030218	Punding
8912	CACNA1H	HP:0012433	Abnormal social behavior
8913	CACNA1G	HP:0001152	Saccadic smooth pursuit
8913	CACNA1G	HP:0002497	Spastic ataxia
8913	CACNA1G	HP:0001159	Syndactyly
8913	CACNA1G	HP:0003765	Psoriasiform dermatitis
8913	CACNA1G	HP:0007256	Abnormal pyramidal sign
8913	CACNA1G	HP:0010862	Delayed fine motor development
8913	CACNA1G	HP:0002421	Poor head control
8913	CACNA1G	HP:0001272	Cerebellar atrophy
8913	CACNA1G	HP:0001250	Seizure
8913	CACNA1G	HP:0001251	Ataxia
8913	CACNA1G	HP:0001249	Intellectual disability
8913	CACNA1G	HP:0001260	Dysarthria
8913	CACNA1G	HP:0001263	Global developmental delay
8913	CACNA1G	HP:0001257	Spasticity
8913	CACNA1G	HP:0007366	Atrophy/Degeneration affecting the brainstem
8913	CACNA1G	HP:0007351	Upper limb postural tremor
8913	CACNA1G	HP:0002540	Inability to walk
8913	CACNA1G	HP:0002511	Alzheimer disease
8913	CACNA1G	HP:0002509	Limb hypertonia
8913	CACNA1G	HP:0000020	Urinary incontinence
8913	CACNA1G	HP:0001347	Hyperreflexia
8913	CACNA1G	HP:0031166	Eyelid myokymia
8913	CACNA1G	HP:0001332	Dystonia
8913	CACNA1G	HP:0000012	Urinary urgency
8913	CACNA1G	HP:0001337	Tremor
8913	CACNA1G	HP:0000006	Autosomal dominant inheritance
8913	CACNA1G	HP:0001310	Dysmetria
8913	CACNA1G	HP:0002650	Scoliosis
8913	CACNA1G	HP:0001321	Cerebellar hypoplasia
8913	CACNA1G	HP:0001317	Abnormal cerebellum morphology
8913	CACNA1G	HP:0008936	Axial hypotonia
8913	CACNA1G	HP:0002015	Dysphagia
8913	CACNA1G	HP:0100543	Cognitive impairment
8913	CACNA1G	HP:0002066	Gait ataxia
8913	CACNA1G	HP:0002064	Spastic gait
8913	CACNA1G	HP:0003487	Babinski sign
8913	CACNA1G	HP:0002194	Delayed gross motor development
8913	CACNA1G	HP:0003593	Infantile onset
8913	CACNA1G	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
8913	CACNA1G	HP:0001007	Hirsutism
8913	CACNA1G	HP:0002346	Head tremor
8913	CACNA1G	HP:0003677	Slowly progressive
8913	CACNA1G	HP:0002322	Resting tremor
8913	CACNA1G	HP:0002321	Vertigo
8913	CACNA1G	HP:0002317	Unsteady gait
8913	CACNA1G	HP:0010841	Multifocal epileptiform discharges
8913	CACNA1G	HP:0003623	Neonatal onset
8913	CACNA1G	HP:0006855	Cerebellar vermis atrophy
8913	CACNA1G	HP:0000639	Nystagmus
8913	CACNA1G	HP:0000651	Diplopia
8913	CACNA1G	HP:0000657	Oculomotor apraxia
8913	CACNA1G	HP:0000666	Horizontal nystagmus
8913	CACNA1G	HP:0006938	Impaired vibration sensation at ankles
8913	CACNA1G	HP:0000802	Impotence
8913	CACNA1G	HP:0000750	Delayed speech and language development
8913	CACNA1G	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
8913	CACNA1G	HP:0000716	Depression
8913	CACNA1G	HP:0012759	Neurodevelopmental abnormality
8913	CACNA1G	HP:0003196	Short nose
8913	CACNA1G	HP:0040080	Anteverted ears
8913	CACNA1G	HP:0030890	Hyperintensity of cerebral white matter on MRI
8913	CACNA1G	HP:0045025	Narrow palpebral fissure
8913	CACNA1G	HP:0008070	Sparse hair
8913	CACNA1G	HP:0030084	Clinodactyly
8913	CACNA1G	HP:0000252	Microcephaly
8913	CACNA1G	HP:0000316	Hypertelorism
8913	CACNA1G	HP:0000303	Mandibular prognathia
8913	CACNA1G	HP:0007979	Gaze-evoked horizontal nystagmus
8913	CACNA1G	HP:0000486	Strabismus
8913	CACNA1G	HP:0000490	Deeply set eye
8913	CACNA1G	HP:0012434	Delayed social development
8913	CACNA1G	HP:0000582	Upslanted palpebral fissure
8913	CACNA1G	HP:0000571	Hypometric saccades
8913	CACNA1G	HP:0000540	Hypermetropia
8914	TIMELESS	HP:0000006	Autosomal dominant inheritance
8914	TIMELESS	HP:0031873	Early chronotype
8915	BCL10	HP:0003745	Sporadic
8915	BCL10	HP:0001250	Seizure
8915	BCL10	HP:0002583	Colitis
8915	BCL10	HP:0000027	Azoospermia
8915	BCL10	HP:0000007	Autosomal recessive inheritance
8915	BCL10	HP:0002665	Lymphoma
8915	BCL10	HP:0012191	B-cell lymphoma
8915	BCL10	HP:0012123	Posterior uveitis
8915	BCL10	HP:0006254	Elevated circulating alpha-fetoprotein concentration
8915	BCL10	HP:0001428	Somatic mutation
8915	BCL10	HP:0002719	Recurrent infections
8915	BCL10	HP:0002716	Lymphadenopathy
8915	BCL10	HP:0002721	Immunodeficiency
8915	BCL10	HP:0002019	Constipation
8915	BCL10	HP:0002017	Nausea and vomiting
8915	BCL10	HP:0002027	Abdominal pain
8915	BCL10	HP:0002133	Status epilepticus
8915	BCL10	HP:0002113	Pulmonary infiltrates
8915	BCL10	HP:0003593	Infantile onset
8915	BCL10	HP:0003581	Adult onset
8915	BCL10	HP:0002205	Recurrent respiratory infections
8915	BCL10	HP:0100768	Choriocarcinoma
8915	BCL10	HP:0100721	Mediastinal lymphadenopathy
8915	BCL10	HP:0002383	Infectious encephalitis
8915	BCL10	HP:0009792	Teratoma
8915	BCL10	HP:0000614	Abnormal nasolacrimal system morphology
8915	BCL10	HP:0001945	Fever
8915	BCL10	HP:0001903	Anemia
8915	BCL10	HP:0004313	Decreased circulating antibody level
8915	BCL10	HP:0100001	Malignant mesothelioma
8915	BCL10	HP:0000820	Abnormality of the thyroid gland
8915	BCL10	HP:0045038	Gastric lymphoma
8915	BCL10	HP:0000975	Hyperhidrosis
8915	BCL10	HP:0002898	Embryonal neoplasm
8915	BCL10	HP:0012378	Fatigue
8915	BCL10	HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells
8915	BCL10	HP:0001824	Weight loss
8915	BCL10	HP:0000505	Visual impairment
8924	HERC2	HP:0001159	Syndactyly
8924	HERC2	HP:0007328	Impaired pain sensation
8924	HERC2	HP:0003745	Sporadic
8924	HERC2	HP:0001290	Generalized hypotonia
8924	HERC2	HP:0001270	Motor delay
8924	HERC2	HP:0001250	Seizure
8924	HERC2	HP:0001249	Intellectual disability
8924	HERC2	HP:0002591	Polyphagia
8924	HERC2	HP:0001263	Global developmental delay
8924	HERC2	HP:0000064	Hypoplastic labia minora
8924	HERC2	HP:0000060	Clitoral hypoplasia
8924	HERC2	HP:0000044	Hypogonadotropic hypogonadism
8924	HERC2	HP:0000046	Small scrotum
8924	HERC2	HP:0000054	Micropenis
8924	HERC2	HP:0001385	Hip dysplasia
8924	HERC2	HP:0001357	Plagiocephaly
8924	HERC2	HP:0000028	Cryptorchidism
8924	HERC2	HP:0008872	Feeding difficulties in infancy
8924	HERC2	HP:0007513	Generalized hypopigmentation
8924	HERC2	HP:0001328	Specific learning disability
8924	HERC2	HP:0000007	Autosomal recessive inheritance
8924	HERC2	HP:0000006	Autosomal dominant inheritance
8924	HERC2	HP:0002650	Scoliosis
8924	HERC2	HP:0001319	Neonatal hypotonia
8924	HERC2	HP:0000189	Narrow palate
8924	HERC2	HP:0002791	Hypoventilation
8924	HERC2	HP:0002714	Downturned corners of mouth
8924	HERC2	HP:0002033	Poor suck
8924	HERC2	HP:0005968	Temperature instability
8924	HERC2	HP:0005978	Type II diabetes mellitus
8924	HERC2	HP:0030919	Low 5-minute APGAR score
8924	HERC2	HP:0030918	Low 1-minute APGAR score
8924	HERC2	HP:0009466	Radial deviation of finger
8924	HERC2	HP:0002119	Ventriculomegaly
8924	HERC2	HP:0010535	Sleep apnea
8924	HERC2	HP:0010529	Echolalia
8924	HERC2	HP:0003593	Infantile onset
8924	HERC2	HP:0003577	Congenital onset
8924	HERC2	HP:0002236	Frontal upsweep of hair
8924	HERC2	HP:0100716	Self-injurious behavior
8924	HERC2	HP:0002205	Recurrent respiratory infections
8924	HERC2	HP:0007010	Poor fine motor coordination
8924	HERC2	HP:0007015	Poor gross motor coordination
8924	HERC2	HP:0007018	Attention deficit hyperactivity disorder
8924	HERC2	HP:0002360	Sleep disturbance
8924	HERC2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
8924	HERC2	HP:0001010	Hypopigmentation of the skin
8924	HERC2	HP:0002317	Unsteady gait
8924	HERC2	HP:0200055	Small hand
8924	HERC2	HP:0033454	Tube feeding
8924	HERC2	HP:0031878	Acromicria
8924	HERC2	HP:0004283	Narrow palm
8924	HERC2	HP:0005599	Hypopigmentation of hair
8924	HERC2	HP:0004279	Short palm
8924	HERC2	HP:0000635	Blue irides
8924	HERC2	HP:0000670	Carious teeth
8924	HERC2	HP:0004322	Short stature
8924	HERC2	HP:0031987	Diminished ability to concentrate
8924	HERC2	HP:0031936	Delayed ability to walk
8924	HERC2	HP:0012743	Abdominal obesity
8924	HERC2	HP:0000752	Hyperactivity
8924	HERC2	HP:0100023	Recurrent hand flapping
8924	HERC2	HP:0000750	Delayed speech and language development
8924	HERC2	HP:0000742	Self-mutilation
8924	HERC2	HP:0000718	Aggressive behavior
8924	HERC2	HP:0000717	Autism
8924	HERC2	HP:0000729	Autistic behavior
8924	HERC2	HP:0000709	Psychosis
8924	HERC2	HP:0011461	Fetal onset
8924	HERC2	HP:0000789	Infertility
8924	HERC2	HP:0000786	Primary amenorrhea
8924	HERC2	HP:0003199	Decreased muscle mass
8924	HERC2	HP:0000876	Oligomenorrhea
8924	HERC2	HP:0000846	Adrenal insufficiency
8924	HERC2	HP:0000842	Hyperinsulinemia
8924	HERC2	HP:0000826	Precocious puberty
8924	HERC2	HP:0000824	Decreased response to growth hormone stimulation test
8924	HERC2	HP:0000823	Delayed puberty
8924	HERC2	HP:0003241	External genital hypoplasia
8924	HERC2	HP:0000992	Cutaneous photosensitivity
8924	HERC2	HP:0000939	Osteoporosis
8924	HERC2	HP:0000938	Osteopenia
8924	HERC2	HP:0000268	Dolichocephaly
8924	HERC2	HP:0007730	Iris hypopigmentation
8924	HERC2	HP:0030084	Clinodactyly
8924	HERC2	HP:0002808	Kyphosis
8924	HERC2	HP:0000219	Thin upper lip vermilion
8924	HERC2	HP:0001562	Oligohydramnios
8924	HERC2	HP:0001561	Polyhydramnios
8924	HERC2	HP:0001558	Decreased fetal movement
8924	HERC2	HP:0001531	Failure to thrive in infancy
8924	HERC2	HP:0002857	Genu valgum
8924	HERC2	HP:0001511	Intrauterine growth retardation
8924	HERC2	HP:0001513	Obesity
8924	HERC2	HP:0007874	Almond-shaped palpebral fissure
8924	HERC2	HP:0000341	Narrow forehead
8924	HERC2	HP:0001623	Breech presentation
8924	HERC2	HP:0000303	Mandibular prognathia
8924	HERC2	HP:0000486	Strabismus
8924	HERC2	HP:0001773	Short foot
8924	HERC2	HP:0000446	Narrow nasal bridge
8924	HERC2	HP:0001852	Sandal gap
8924	HERC2	HP:0000582	Upslanted palpebral fissure
8924	HERC2	HP:0000565	Esotropia
8924	HERC2	HP:0000540	Hypermetropia
8924	HERC2	HP:0000545	Myopia
8925	HERC1	HP:0001176	Large hands
8925	HERC1	HP:0001166	Arachnodactyly
8925	HERC1	HP:0010864	Intellectual disability, severe
8925	HERC1	HP:0001272	Cerebellar atrophy
8925	HERC1	HP:0001250	Seizure
8925	HERC1	HP:0001252	Hypotonia
8925	HERC1	HP:0001249	Intellectual disability
8925	HERC1	HP:0001263	Global developmental delay
8925	HERC1	HP:0000098	Tall stature
8925	HERC1	HP:0001376	Limitation of joint mobility
8925	HERC1	HP:0000054	Micropenis
8925	HERC1	HP:0001388	Joint laxity
8925	HERC1	HP:0001355	Megalencephaly
8925	HERC1	HP:0001344	Absent speech
8925	HERC1	HP:0000007	Autosomal recessive inheritance
8925	HERC1	HP:0001334	Communicating hydrocephalus
8925	HERC1	HP:0002650	Scoliosis
8925	HERC1	HP:0001321	Cerebellar hypoplasia
8925	HERC1	HP:0002751	Kyphoscoliosis
8925	HERC1	HP:0002007	Frontal bossing
8925	HERC1	HP:0003307	Hyperlordosis
8925	HERC1	HP:0002069	Bilateral tonic-clonic seizure
8925	HERC1	HP:0002066	Gait ataxia
8925	HERC1	HP:0002120	Cerebral cortical atrophy
8925	HERC1	HP:0002119	Ventriculomegaly
8925	HERC1	HP:0003577	Congenital onset
8925	HERC1	HP:0007074	Thick corpus callosum
8925	HERC1	HP:0002355	Difficulty walking
8925	HERC1	HP:0007204	Diffuse white matter abnormalities
8925	HERC1	HP:0002307	Drooling
8925	HERC1	HP:0006863	Severe expressive language delay
8925	HERC1	HP:0011330	Metopic synostosis
8925	HERC1	HP:0001999	Abnormal facial shape
8925	HERC1	HP:0001998	Neonatal hypoglycemia
8925	HERC1	HP:0000735	Impaired social interactions
8925	HERC1	HP:0045075	Sparse eyebrow
8925	HERC1	HP:0000297	Facial hypotonia
8925	HERC1	HP:0000256	Macrocephaly
8925	HERC1	HP:0000276	Long face
8925	HERC1	HP:0000272	Malar flattening
8925	HERC1	HP:0002808	Kyphosis
8925	HERC1	HP:0001548	Overgrowth
8925	HERC1	HP:0000218	High palate
8925	HERC1	HP:0001555	Asymmetry of the thorax
8925	HERC1	HP:0001533	Slender build
8925	HERC1	HP:0001520	Large for gestational age
8925	HERC1	HP:0001519	Disproportionate tall stature
8925	HERC1	HP:0002938	Lumbar hyperlordosis
8925	HERC1	HP:0000358	Posteriorly rotated ears
8925	HERC1	HP:0011003	High myopia
8925	HERC1	HP:0000369	Low-set ears
8925	HERC1	HP:0000368	Low-set, posteriorly rotated ears
8925	HERC1	HP:0000316	Hypertelorism
8925	HERC1	HP:0000325	Triangular face
8925	HERC1	HP:0000303	Mandibular prognathia
8925	HERC1	HP:0000400	Macrotia
8925	HERC1	HP:0000494	Downslanted palpebral fissures
8925	HERC1	HP:0000472	Long neck
8925	HERC1	HP:0001763	Pes planus
8925	HERC1	HP:0000426	Prominent nasal bridge
8925	HERC1	HP:0000520	Proptosis
8925	HERC1	HP:0001833	Long foot
8925	HERC1	HP:0000582	Upslanted palpebral fissure
8925	HERC1	HP:0011229	Broad eyebrow
8925	HERC1	HP:0000586	Shallow orbits
8925	HERC1	HP:0011220	Prominent forehead
8928	FOXH1	HP:0002465	Poor speech
8928	FOXH1	HP:0002474	Expressive language delay
8928	FOXH1	HP:0002451	Limb dystonia
8928	FOXH1	HP:0007301	Oromotor apraxia
8928	FOXH1	HP:0009932	Single naris
8928	FOXH1	HP:0009914	Cyclopia
8928	FOXH1	HP:0002418	Abnormal midbrain morphology
8928	FOXH1	HP:0001290	Generalized hypotonia
8928	FOXH1	HP:0001274	Agenesis of corpus callosum
8928	FOXH1	HP:0001273	Abnormal corpus callosum morphology
8928	FOXH1	HP:0001254	Lethargy
8928	FOXH1	HP:0001250	Seizure
8928	FOXH1	HP:0001249	Intellectual disability
8928	FOXH1	HP:0001257	Spasticity
8928	FOXH1	HP:0008736	Hypoplasia of penis
8928	FOXH1	HP:0007375	Abnormal septum pellucidum morphology
8928	FOXH1	HP:0002540	Inability to walk
8928	FOXH1	HP:0000062	Ambiguous genitalia
8928	FOXH1	HP:0001371	Flexion contracture
8928	FOXH1	HP:0001355	Megalencephaly
8928	FOXH1	HP:0001360	Holoprosencephaly
8928	FOXH1	HP:0001328	Specific learning disability
8928	FOXH1	HP:0001344	Absent speech
8928	FOXH1	HP:0002650	Scoliosis
8928	FOXH1	HP:0000193	Bifid uvula
8928	FOXH1	HP:0000161	Median cleft lip
8928	FOXH1	HP:0000175	Cleft palate
8928	FOXH1	HP:0006315	Solitary median maxillary central incisor
8928	FOXH1	HP:0008947	Infantile muscular hypotonia
8928	FOXH1	HP:0012110	Hypoplasia of the pons
8928	FOXH1	HP:0000119	Abnormality of the genitourinary system
8928	FOXH1	HP:0002793	Abnormal pattern of respiration
8928	FOXH1	HP:0000104	Renal agenesis
8928	FOXH1	HP:0002020	Gastroesophageal reflux
8928	FOXH1	HP:0002019	Constipation
8928	FOXH1	HP:0002033	Poor suck
8928	FOXH1	HP:0002015	Dysphagia
8928	FOXH1	HP:0002013	Vomiting
8928	FOXH1	HP:0040327	Abnormal morphology of the olfactory bulb
8928	FOXH1	HP:0005968	Temperature instability
8928	FOXH1	HP:0002099	Asthma
8928	FOXH1	HP:0011787	Central hypothyroidism
8928	FOXH1	HP:0003468	Abnormal vertebral morphology
8928	FOXH1	HP:0003458	EMG: myopathic abnormalities
8928	FOXH1	HP:0002270	Abnormality of the autonomic nervous system
8928	FOXH1	HP:0100704	Cerebral visual impairment
8928	FOXH1	HP:0100710	Impulsivity
8928	FOXH1	HP:0002247	Duodenal atresia
8928	FOXH1	HP:0010654	Aplasia of the falx cerebri
8928	FOXH1	HP:0007018	Attention deficit hyperactivity disorder
8928	FOXH1	HP:0010644	Midnasal stenosis
8928	FOXH1	HP:0011968	Feeding difficulties
8928	FOXH1	HP:0011951	Aspiration pneumonia
8928	FOXH1	HP:0002363	Abnormal brainstem morphology
8928	FOXH1	HP:0001028	Hemangioma
8928	FOXH1	HP:0010804	Tented upper lip vermilion
8928	FOXH1	HP:0009800	Maternal diabetes
8928	FOXH1	HP:0031860	Abnormal heart rate variability
8928	FOXH1	HP:0000612	Iris coloboma
8928	FOXH1	HP:0000601	Hypotelorism
8928	FOXH1	HP:0009062	Infantile axial hypotonia
8928	FOXH1	HP:0012650	Perisylvian polymicrogyria
8928	FOXH1	HP:0004322	Short stature
8928	FOXH1	HP:0006979	Sleep-wake cycle disturbance
8928	FOXH1	HP:0030680	Abnormality of cardiovascular system morphology
8928	FOXH1	HP:0031913	Rhombencephalosynapsis
8928	FOXH1	HP:0000772	Abnormal rib morphology
8928	FOXH1	HP:0000737	Irritability
8928	FOXH1	HP:0000739	Anxiety
8928	FOXH1	HP:0000736	Short attention span
8928	FOXH1	HP:0012718	Morphological abnormality of the gastrointestinal tract
8928	FOXH1	HP:0000741	Apathy
8928	FOXH1	HP:0000716	Depression
8928	FOXH1	HP:0000708	Atypical behavior
8928	FOXH1	HP:0011471	Gastrostomy tube feeding in infancy
8928	FOXH1	HP:0011442	Abnormal central motor function
8928	FOXH1	HP:0003196	Short nose
8928	FOXH1	HP:0000924	Abnormality of the skeletal system
8928	FOXH1	HP:0004478	Ethmoidal encephalocele
8928	FOXH1	HP:0000873	Diabetes insipidus
8928	FOXH1	HP:0000871	Panhypopituitarism
8928	FOXH1	HP:0000863	Central diabetes insipidus
8928	FOXH1	HP:0000830	Anterior hypopituitarism
8928	FOXH1	HP:0012806	Proboscis
8928	FOXH1	HP:0000818	Abnormality of the endocrine system
8928	FOXH1	HP:0000826	Precocious puberty
8928	FOXH1	HP:0000821	Hypothyroidism
8928	FOXH1	HP:0000824	Decreased response to growth hormone stimulation test
8928	FOXH1	HP:0040064	Abnormality of limbs
8928	FOXH1	HP:0045005	Neural tube defect
8928	FOXH1	HP:0012285	Abnormal hypothalamus physiology
8928	FOXH1	HP:0000256	Macrocephaly
8928	FOXH1	HP:0002827	Hip dislocation
8928	FOXH1	HP:0000238	Hydrocephalus
8928	FOXH1	HP:0000252	Microcephaly
8928	FOXH1	HP:0000218	High palate
8928	FOXH1	HP:0001545	Anteriorly placed anus
8928	FOXH1	HP:0002871	Central apnea
8928	FOXH1	HP:0000202	Orofacial cleft
8928	FOXH1	HP:0001508	Failure to thrive
8928	FOXH1	HP:0001511	Intrauterine growth retardation
8928	FOXH1	HP:0001510	Growth delay
8928	FOXH1	HP:0006528	Chronic lung disease
8928	FOXH1	HP:0001680	Coarctation of aorta
8928	FOXH1	HP:0000322	Short philtrum
8928	FOXH1	HP:0001627	Abnormal heart morphology
8928	FOXH1	HP:0001622	Premature birth
8928	FOXH1	HP:0001636	Tetralogy of Fallot
8928	FOXH1	HP:0000407	Sensorineural hearing impairment
8928	FOXH1	HP:0000486	Strabismus
8928	FOXH1	HP:0000478	Abnormality of the eye
8928	FOXH1	HP:0000463	Anteverted nares
8928	FOXH1	HP:0000457	Depressed nasal ridge
8928	FOXH1	HP:0000453	Choanal atresia
8928	FOXH1	HP:0000446	Narrow nasal bridge
8929	PHOX2B	HP:0001250	Seizure
8929	PHOX2B	HP:0001252	Hypotonia
8929	PHOX2B	HP:0001249	Intellectual disability
8929	PHOX2B	HP:0000006	Autosomal dominant inheritance
8929	PHOX2B	HP:0002791	Hypoventilation
8929	PHOX2B	HP:0002020	Gastroesophageal reflux
8929	PHOX2B	HP:0005957	Breathing dysregulation
8929	PHOX2B	HP:0100543	Cognitive impairment
8929	PHOX2B	HP:0002093	Respiratory insufficiency
8929	PHOX2B	HP:0002104	Apnea
8929	PHOX2B	HP:0010536	Central sleep apnea
8929	PHOX2B	HP:0003593	Infantile onset
8929	PHOX2B	HP:0002270	Abnormality of the autonomic nervous system
8929	PHOX2B	HP:0003577	Congenital onset
8929	PHOX2B	HP:0002251	Aganglionic megacolon
8929	PHOX2B	HP:0011976	Elevated urinary catecholamines
8929	PHOX2B	HP:0011968	Feeding difficulties
8929	PHOX2B	HP:0007110	Central hypoventilation
8929	PHOX2B	HP:0003623	Neonatal onset
8929	PHOX2B	HP:0031857	Ineffective esophageal peristalsis
8929	PHOX2B	HP:0031861	Decreased heart rate variability
8929	PHOX2B	HP:0000615	Abnormal pupil morphology
8929	PHOX2B	HP:0003005	Ganglioneuroma
8929	PHOX2B	HP:0004375	Neoplasm of the nervous system
8929	PHOX2B	HP:0004370	Abnormality of temperature regulation
8929	PHOX2B	HP:0003006	Neuroblastoma
8929	PHOX2B	HP:0100006	Neoplasm of the central nervous system
8929	PHOX2B	HP:0000975	Hyperhidrosis
8929	PHOX2B	HP:0011675	Arrhythmia
8929	PHOX2B	HP:0002877	Nocturnal hypoventilation
8929	PHOX2B	HP:0001562	Oligohydramnios
8929	PHOX2B	HP:0001561	Polyhydramnios
8929	PHOX2B	HP:0001558	Decreased fetal movement
8929	PHOX2B	HP:0001522	Death in infancy
8929	PHOX2B	HP:0001508	Failure to thrive
8929	PHOX2B	HP:0001518	Small for gestational age
8929	PHOX2B	HP:0000358	Posteriorly rotated ears
8929	PHOX2B	HP:0000369	Low-set ears
8929	PHOX2B	HP:0012332	Abnormal autonomic nervous system physiology
8929	PHOX2B	HP:0001657	Prolonged QT interval
8929	PHOX2B	HP:0000407	Sensorineural hearing impairment
8929	PHOX2B	HP:0000486	Strabismus
8929	PHOX2B	HP:0000494	Downslanted palpebral fissures
8929	PHOX2B	HP:0012450	Chronic constipation
8929	PHOX2B	HP:0012416	Hypercapnia
8929	PHOX2B	HP:0012418	Hypoxemia
8929	PHOX2B	HP:0006747	Ganglioneuroblastoma
8930	MBD4	HP:0000006	Autosomal dominant inheritance
8930	MBD4	HP:0003596	Middle age onset
8930	MBD4	HP:0003581	Adult onset
8930	MBD4	HP:0004808	Acute myeloid leukemia
8930	MBD4	HP:0003621	Juvenile onset
8930	MBD4	HP:0003003	Colon cancer
8930	MBD4	HP:0031919	Juvenile type ovarian granulosa cell tumor
8930	MBD4	HP:0100008	Schwannoma
8930	MBD4	HP:0011462	Young adult onset
8930	MBD4	HP:0007716	Uveal melanoma
8930	MBD4	HP:0030075	Ductal carcinoma in situ
8930	MBD4	HP:0002858	Meningioma
8930	MBD4	HP:0005227	Adenomatous colonic polyposis
8936	WASF1	HP:0001182	Tapered finger
8936	WASF1	HP:0010864	Intellectual disability, severe
8936	WASF1	HP:0001290	Generalized hypotonia
8936	WASF1	HP:0001250	Seizure
8936	WASF1	HP:0025336	Delayed ability to sit
8936	WASF1	HP:0000010	Recurrent urinary tract infections
8936	WASF1	HP:0000006	Autosomal dominant inheritance
8936	WASF1	HP:0007663	Reduced visual acuity
8936	WASF1	HP:0011800	Midface retrusion
8936	WASF1	HP:0002119	Ventriculomegaly
8936	WASF1	HP:0002136	Broad-based gait
8936	WASF1	HP:0100716	Self-injurious behavior
8936	WASF1	HP:0011968	Feeding difficulties
8936	WASF1	HP:0002376	Developmental regression
8936	WASF1	HP:0005643	Short 3rd toe
8936	WASF1	HP:0005692	Joint hyperflexibility
8936	WASF1	HP:0031936	Delayed ability to walk
8936	WASF1	HP:0000750	Delayed speech and language development
8936	WASF1	HP:0003186	Inverted nipples
8936	WASF1	HP:0000957	Cafe-au-lait spot
8936	WASF1	HP:0008093	Short 4th toe
8936	WASF1	HP:0002816	Genu recurvatum
8936	WASF1	HP:0006610	Wide intermamillary distance
8936	WASF1	HP:0000486	Strabismus
8936	WASF1	HP:0000490	Deeply set eye
8936	WASF1	HP:0012450	Chronic constipation
8936	WASF1	HP:0001763	Pes planus
8936	WASF1	HP:0000520	Proptosis
8936	WASF1	HP:0000582	Upslanted palpebral fissure
8936	WASF1	HP:0000592	Blue sclerae
8942	KYNU	HP:0002448	Progressive encephalopathy
8942	KYNU	HP:0001298	Encephalopathy
8942	KYNU	HP:0001276	Hypertonia
8942	KYNU	HP:0001249	Intellectual disability
8942	KYNU	HP:0001263	Global developmental delay
8942	KYNU	HP:0001259	Coma
8942	KYNU	HP:0000089	Renal hypoplasia
8942	KYNU	HP:0000007	Autosomal recessive inheritance
8942	KYNU	HP:0002615	Hypotension
8942	KYNU	HP:0008905	Rhizomelia
8942	KYNU	HP:0000122	Unilateral renal agenesis
8942	KYNU	HP:0003355	Aminoaciduria
8942	KYNU	HP:0002013	Vomiting
8942	KYNU	HP:0002007	Frontal bossing
8942	KYNU	HP:0005957	Breathing dysregulation
8942	KYNU	HP:0003422	Vertebral segmentation defect
8942	KYNU	HP:0003577	Congenital onset
8942	KYNU	HP:0002315	Headache
8942	KYNU	HP:0008527	Congenital sensorineural hearing impairment
8942	KYNU	HP:0003623	Neonatal onset
8942	KYNU	HP:0012622	Chronic kidney disease
8942	KYNU	HP:0001947	Renal tubular acidosis
8942	KYNU	HP:0001942	Metabolic acidosis
8942	KYNU	HP:0004322	Short stature
8942	KYNU	HP:0004383	Hypoplastic left heart
8942	KYNU	HP:0004365	Abnormal circulating tryptophan concentration
8942	KYNU	HP:0000733	Abnormal repetitive mannerisms
8942	KYNU	HP:0000750	Delayed speech and language development
8942	KYNU	HP:0000774	Narrow chest
8942	KYNU	HP:0000878	11 pairs of ribs
8942	KYNU	HP:0010280	Stomatitis
8942	KYNU	HP:0000958	Dry skin
8942	KYNU	HP:0000952	Jaundice
8942	KYNU	HP:0000252	Microcephaly
8942	KYNU	HP:0001545	Anteriorly placed anus
8942	KYNU	HP:0002937	Hemivertebrae
8942	KYNU	HP:0000369	Low-set ears
8942	KYNU	HP:0001649	Tachycardia
8942	KYNU	HP:0001643	Patent ductus arteriosus
8942	KYNU	HP:0005280	Depressed nasal bridge
8942	KYNU	HP:0001883	Talipes
8943	AP3D1	HP:0001107	Ocular albinism
8943	AP3D1	HP:0001103	Abnormal macular morphology
8943	AP3D1	HP:0002421	Poor head control
8943	AP3D1	HP:0001290	Generalized hypotonia
8943	AP3D1	HP:0001332	Dystonia
8943	AP3D1	HP:0000007	Autosomal recessive inheritance
8943	AP3D1	HP:0001480	Freckling
8943	AP3D1	HP:0008936	Axial hypotonia
8943	AP3D1	HP:0002721	Immunodeficiency
8943	AP3D1	HP:0002069	Bilateral tonic-clonic seizure
8943	AP3D1	HP:0002059	Cerebral atrophy
8943	AP3D1	HP:0002104	Apnea
8943	AP3D1	HP:0002188	Delayed CNS myelination
8943	AP3D1	HP:0002240	Hepatomegaly
8943	AP3D1	HP:0002205	Recurrent respiratory infections
8943	AP3D1	HP:0011968	Feeding difficulties
8943	AP3D1	HP:0001022	Albinism
8943	AP3D1	HP:0002353	EEG abnormality
8943	AP3D1	HP:0005592	Giant melanosomes in melanocytes
8943	AP3D1	HP:0000639	Nystagmus
8943	AP3D1	HP:0000613	Photophobia
8943	AP3D1	HP:0000615	Abnormal pupil morphology
8943	AP3D1	HP:0000601	Hypotelorism
8943	AP3D1	HP:0011344	Severe global developmental delay
8943	AP3D1	HP:0008069	Neoplasm of the skin
8943	AP3D1	HP:0000278	Retrognathia
8943	AP3D1	HP:0007750	Hypoplasia of the fovea
8943	AP3D1	HP:0007730	Iris hypopigmentation
8943	AP3D1	HP:0000252	Microcephaly
8943	AP3D1	HP:0006530	Abnormal pulmonary interstitial morphology
8943	AP3D1	HP:0000369	Low-set ears
8943	AP3D1	HP:0000319	Smooth philtrum
8943	AP3D1	HP:0011166	Focal myoclonic seizure
8943	AP3D1	HP:0000407	Sensorineural hearing impairment
8943	AP3D1	HP:0000400	Macrotia
8943	AP3D1	HP:0000483	Astigmatism
8943	AP3D1	HP:0000486	Strabismus
8943	AP3D1	HP:0001744	Splenomegaly
8943	AP3D1	HP:0000505	Visual impairment
8943	AP3D1	HP:0000545	Myopia
8943	AP3D1	HP:0001875	Neutropenia
8945	BTRC	HP:0001171	Split hand
8945	BTRC	HP:0006101	Finger syndactyly
8945	BTRC	HP:0012165	Oligodactyly
8945	BTRC	HP:0004050	Absent hand
8945	BTRC	HP:0000407	Sensorineural hearing impairment
8945	BTRC	HP:0000526	Aniridia
8974	P4HA2	HP:0001123	Visual field defect
8974	P4HA2	HP:0001287	Meningitis
8974	P4HA2	HP:0001251	Ataxia
8974	P4HA2	HP:0000083	Renal insufficiency
8974	P4HA2	HP:0001399	Hepatic failure
8974	P4HA2	HP:0001369	Arthritis
8974	P4HA2	HP:0001387	Joint stiffness
8974	P4HA2	HP:0001324	Muscle weakness
8974	P4HA2	HP:0000006	Autosomal dominant inheritance
8974	P4HA2	HP:0002637	Cerebral ischemia
8974	P4HA2	HP:0002633	Vasculitis
8974	P4HA2	HP:0002647	Aortic dissection
8974	P4HA2	HP:0002027	Abdominal pain
8974	P4HA2	HP:0003326	Myalgia
8974	P4HA2	HP:0002039	Anorexia
8974	P4HA2	HP:0100576	Amaurosis fugax
8974	P4HA2	HP:0002103	Abnormal pleura morphology
8974	P4HA2	HP:0003401	Paresthesia
8974	P4HA2	HP:0003565	Elevated erythrocyte sedimentation rate
8974	P4HA2	HP:0100776	Recurrent pharyngitis
8974	P4HA2	HP:0100721	Mediastinal lymphadenopathy
8974	P4HA2	HP:0100758	Gangrene
8974	P4HA2	HP:0002321	Vertigo
8974	P4HA2	HP:0002315	Headache
8974	P4HA2	HP:0009830	Peripheral neuropathy
8974	P4HA2	HP:0200042	Skin ulcer
8974	P4HA2	HP:0003621	Juvenile onset
8974	P4HA2	HP:0000639	Nystagmus
8974	P4HA2	HP:0000651	Diplopia
8974	P4HA2	HP:0000648	Optic atrophy
8974	P4HA2	HP:0001945	Fever
8974	P4HA2	HP:0012735	Cough
8974	P4HA2	HP:0000716	Depression
8974	P4HA2	HP:0000790	Hematuria
8974	P4HA2	HP:0004420	Arterial thrombosis
8974	P4HA2	HP:0000873	Diabetes insipidus
8974	P4HA2	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
8974	P4HA2	HP:0000975	Hyperhidrosis
8974	P4HA2	HP:0011675	Arrhythmia
8974	P4HA2	HP:0001596	Alopecia
8974	P4HA2	HP:0005112	Abdominal aortic aneurysm
8974	P4HA2	HP:0002829	Arthralgia
8974	P4HA2	HP:0000206	Glossitis
8974	P4HA2	HP:0012378	Fatigue
8974	P4HA2	HP:0005244	Gastrointestinal infarctions
8974	P4HA2	HP:0005216	Impaired mastication
8974	P4HA2	HP:0000365	Hearing impairment
8974	P4HA2	HP:0011003	High myopia
8974	P4HA2	HP:0001645	Sudden cardiac death
8974	P4HA2	HP:0000405	Conductive hearing impairment
8974	P4HA2	HP:0001701	Pericarditis
8974	P4HA2	HP:0000421	Epistaxis
8974	P4HA2	HP:0001824	Weight loss
8974	P4HA2	HP:0000508	Ptosis
8974	P4HA2	HP:0000505	Visual impairment
8974	P4HA2	HP:0000597	Ophthalmoparesis
8974	P4HA2	HP:0000572	Visual loss
8974	P4HA2	HP:0001872	Abnormality of thrombocytes
8974	P4HA2	HP:0000541	Retinal detachment
8985	PLOD3	HP:0001263	Global developmental delay
8985	PLOD3	HP:0002680	J-shaped sella turcica
8985	PLOD3	HP:0008897	Postnatal growth retardation
8985	PLOD3	HP:0006184	Decreased palmar creases
8985	PLOD3	HP:0000007	Autosomal recessive inheritance
8985	PLOD3	HP:0002650	Scoliosis
8985	PLOD3	HP:0000164	Abnormality of the dentition
8985	PLOD3	HP:0002756	Pathologic fracture
8985	PLOD3	HP:0002714	Downturned corners of mouth
8985	PLOD3	HP:0003393	Thenar muscle atrophy
8985	PLOD3	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger
8985	PLOD3	HP:0002119	Ventriculomegaly
8985	PLOD3	HP:0002132	Porencephalic cyst
8985	PLOD3	HP:0002164	Nail dysplasia
8985	PLOD3	HP:0010557	Overlapping fingers
8985	PLOD3	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger
8985	PLOD3	HP:0002208	Coarse hair
8985	PLOD3	HP:0025019	Arterial rupture
8985	PLOD3	HP:0003645	Prolonged partial thromboplastin time
8985	PLOD3	HP:0032199	Abnormal prothrombin time
8985	PLOD3	HP:0004944	Dilatation of the cerebral artery
8985	PLOD3	HP:0011461	Fetal onset
8985	PLOD3	HP:0009110	Diaphragmatic eventration
8985	PLOD3	HP:0003196	Short nose
8985	PLOD3	HP:0000926	Platyspondyly
8985	PLOD3	HP:0003090	Hypoplasia of the capital femoral epiphysis
8985	PLOD3	HP:0000978	Bruising susceptibility
8985	PLOD3	HP:0000938	Osteopenia
8985	PLOD3	HP:0000272	Malar flattening
8985	PLOD3	HP:0001511	Intrauterine growth retardation
8985	PLOD3	HP:0012368	Flat face
8985	PLOD3	HP:0000369	Low-set ears
8985	PLOD3	HP:0002987	Elbow flexion contracture
8985	PLOD3	HP:0000307	Pointed chin
8985	PLOD3	HP:0000407	Sensorineural hearing impairment
8985	PLOD3	HP:0000463	Anteverted nares
8985	PLOD3	HP:0001776	Bilateral talipes equinovarus
8985	PLOD3	HP:0000518	Cataract
8985	PLOD3	HP:0000586	Shallow orbits
8985	PLOD3	HP:0001873	Thrombocytopenia
8985	PLOD3	HP:0000545	Myopia
8988	HSPB3	HP:0000006	Autosomal dominant inheritance
8988	HSPB3	HP:0008959	Distal upper limb muscle weakness
8988	HSPB3	HP:0008954	Intrinsic hand muscle atrophy
8988	HSPB3	HP:0008944	Distal lower limb amyotrophy
8988	HSPB3	HP:0003376	Steppage gait
8988	HSPB3	HP:0003388	Easy fatigability
8988	HSPB3	HP:0003445	EMG: neuropathic changes
8988	HSPB3	HP:0003438	Absent Achilles reflex
8988	HSPB3	HP:0002355	Difficulty walking
8988	HSPB3	HP:0003677	Slowly progressive
8988	HSPB3	HP:0009830	Peripheral neuropathy
8988	HSPB3	HP:0007149	Distal upper limb amyotrophy
8988	HSPB3	HP:0006844	Absent patellar reflexes
8988	HSPB3	HP:0009053	Distal lower limb muscle weakness
8988	HSPB3	HP:0011462	Young adult onset
8988	HSPB3	HP:0030237	Hand muscle weakness
8989	TRPA1	HP:0000006	Autosomal dominant inheritance
8989	TRPA1	HP:0003593	Infantile onset
8989	TRPA1	HP:0032148	Episodic pain
8991	SELENBP1	HP:0100812	Halitosis
8991	SELENBP1	HP:0000007	Autosomal recessive inheritance
8991	SELENBP1	HP:0003593	Infantile onset
8991	SELENBP1	HP:0003577	Congenital onset
8991	SELENBP1	HP:0025708	Early young adult onset
8996	NOL3	HP:0001251	Ataxia
8996	NOL3	HP:0000006	Autosomal dominant inheritance
8996	NOL3	HP:0001336	Myoclonus
8996	NOL3	HP:0003596	Middle age onset
8996	NOL3	HP:0003584	Late onset
8996	NOL3	HP:0100785	Insomnia
8996	NOL3	HP:0002359	Frequent falls
8996	NOL3	HP:0002345	Action tremor
8996	NOL3	HP:0003677	Slowly progressive
8996	NOL3	HP:0011462	Young adult onset
8996	NOL3	HP:0034360	Action myoclonus
9015	TAF1A	HP:0100578	Lipoatrophy
9015	TAF1A	HP:0003457	EMG abnormality
9015	TAF1A	HP:0003198	Myopathy
9015	TAF1A	HP:0003236	Elevated circulating creatine kinase concentration
9015	TAF1A	HP:0000982	Palmoplantar keratoderma
9015	TAF1A	HP:0001644	Dilated cardiomyopathy
9015	TAF1A	HP:0000407	Sensorineural hearing impairment
9015	TAF1A	HP:0001874	Abnormality of neutrophils
9031	BAZ1B	HP:0001181	Adducted thumb
9031	BAZ1B	HP:0001136	Retinal arteriolar tortuosity
9031	BAZ1B	HP:0010880	Increased nuchal translucency
9031	BAZ1B	HP:0001297	Stroke
9031	BAZ1B	HP:0100817	Renovascular hypertension
9031	BAZ1B	HP:0001288	Gait disturbance
9031	BAZ1B	HP:0001252	Hypotonia
9031	BAZ1B	HP:0001251	Ataxia
9031	BAZ1B	HP:0001249	Intellectual disability
9031	BAZ1B	HP:0001260	Dysarthria
9031	BAZ1B	HP:0001257	Spasticity
9031	BAZ1B	HP:0001231	Abnormal fingernail morphology
9031	BAZ1B	HP:0002575	Tracheoesophageal fistula
9031	BAZ1B	HP:0008736	Hypoplasia of penis
9031	BAZ1B	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
9031	BAZ1B	HP:0008661	Urethral stenosis
9031	BAZ1B	HP:0000089	Renal hypoplasia
9031	BAZ1B	HP:0000083	Renal insufficiency
9031	BAZ1B	HP:0000093	Proteinuria
9031	BAZ1B	HP:0000076	Vesicoureteral reflux
9031	BAZ1B	HP:0000075	Renal duplication
9031	BAZ1B	HP:0000044	Hypogonadotropic hypogonadism
9031	BAZ1B	HP:0001388	Joint laxity
9031	BAZ1B	HP:0001387	Joint stiffness
9031	BAZ1B	HP:0000023	Inguinal hernia
9031	BAZ1B	HP:0000015	Bladder diverticulum
9031	BAZ1B	HP:0000014	Abnormality of the bladder
9031	BAZ1B	HP:0001347	Hyperreflexia
9031	BAZ1B	HP:0001361	Nystagmus-induced head nodding
9031	BAZ1B	HP:0000025	Functional abnormality of male internal genitalia
9031	BAZ1B	HP:0000028	Cryptorchidism
9031	BAZ1B	HP:0007495	Prematurely aged appearance
9031	BAZ1B	HP:0007477	Abnormal dermatoglyphics
9031	BAZ1B	HP:0000010	Recurrent urinary tract infections
9031	BAZ1B	HP:0001337	Tremor
9031	BAZ1B	HP:0001310	Dysmetria
9031	BAZ1B	HP:0002637	Cerebral ischemia
9031	BAZ1B	HP:0002650	Scoliosis
9031	BAZ1B	HP:0002644	Abnormal pelvic girdle bone morphology
9031	BAZ1B	HP:0002623	Overriding aorta
9031	BAZ1B	HP:0000179	Thick lower lip vermilion
9031	BAZ1B	HP:0000158	Macroglossia
9031	BAZ1B	HP:0000154	Wide mouth
9031	BAZ1B	HP:0000147	Polycystic ovaries
9031	BAZ1B	HP:0000121	Nephrocalcinosis
9031	BAZ1B	HP:0000125	Pelvic kidney
9031	BAZ1B	HP:0002750	Delayed skeletal maturation
9031	BAZ1B	HP:0002024	Malabsorption
9031	BAZ1B	HP:0002020	Gastroesophageal reflux
9031	BAZ1B	HP:0002019	Constipation
9031	BAZ1B	HP:0002017	Nausea and vomiting
9031	BAZ1B	HP:0002035	Rectal prolapse
9031	BAZ1B	HP:0002027	Abdominal pain
9031	BAZ1B	HP:0003312	Abnormal form of the vertebral bodies
9031	BAZ1B	HP:0003307	Hyperlordosis
9031	BAZ1B	HP:0005978	Type II diabetes mellitus
9031	BAZ1B	HP:0100539	Periorbital edema
9031	BAZ1B	HP:0100545	Arterial stenosis
9031	BAZ1B	HP:0002071	Abnormality of extrapyramidal motor function
9031	BAZ1B	HP:0002141	Gait imbalance
9031	BAZ1B	HP:0002150	Hypercalciuria
9031	BAZ1B	HP:0002120	Cerebral cortical atrophy
9031	BAZ1B	HP:0003422	Vertebral segmentation defect
9031	BAZ1B	HP:0002183	Phonophobia
9031	BAZ1B	HP:0002167	Abnormality of speech or vocalization
9031	BAZ1B	HP:0010526	Dysgraphia
9031	BAZ1B	HP:0002253	Colonic diverticula
9031	BAZ1B	HP:0002205	Recurrent respiratory infections
9031	BAZ1B	HP:0100785	Insomnia
9031	BAZ1B	HP:0010662	Abnormality of the diencephalon
9031	BAZ1B	HP:0010669	Hypoplasia of the zygomatic bone
9031	BAZ1B	HP:0007018	Attention deficit hyperactivity disorder
9031	BAZ1B	HP:0001052	Nevus flammeus
9031	BAZ1B	HP:0002376	Developmental regression
9031	BAZ1B	HP:0200021	Down-sloping shoulders
9031	BAZ1B	HP:0100659	Abnormal cerebral vascular morphology
9031	BAZ1B	HP:0010807	Open bite
9031	BAZ1B	HP:0100613	Death in early adulthood
9031	BAZ1B	HP:0001081	Cholelithiasis
9031	BAZ1B	HP:0008499	High hypermetropia
9031	BAZ1B	HP:0010780	Hyperacusis
9031	BAZ1B	HP:0002308	Chiari malformation
9031	BAZ1B	HP:0004969	Peripheral pulmonary artery stenosis
9031	BAZ1B	HP:0004209	Clinodactyly of the 5th finger
9031	BAZ1B	HP:0004295	Abnormal gastric mucosa morphology
9031	BAZ1B	HP:0005562	Multiple renal cysts
9031	BAZ1B	HP:0001969	Abnormal tubulointerstitial morphology
9031	BAZ1B	HP:0000635	Blue irides
9031	BAZ1B	HP:0000632	Lacrimation abnormality
9031	BAZ1B	HP:0000627	Posterior embryotoxon
9031	BAZ1B	HP:0000682	Abnormal dental enamel morphology
9031	BAZ1B	HP:0000691	Microdontia
9031	BAZ1B	HP:0000689	Dental malocclusion
9031	BAZ1B	HP:0000670	Carious teeth
9031	BAZ1B	HP:0012639	Abnormal nervous system morphology
9031	BAZ1B	HP:0000668	Hypodontia
9031	BAZ1B	HP:0004322	Short stature
9031	BAZ1B	HP:0004306	Abnormal endocardium morphology
9031	BAZ1B	HP:0004305	Involuntary movements
9031	BAZ1B	HP:0003072	Hypercalcemia
9031	BAZ1B	HP:0004381	Supravalvular aortic stenosis
9031	BAZ1B	HP:0004398	Peptic ulcer
9031	BAZ1B	HP:0005692	Joint hyperflexibility
9031	BAZ1B	HP:0003028	Abnormality of the ankle
9031	BAZ1B	HP:0100025	Overfriendliness
9031	BAZ1B	HP:0000767	Pectus excavatum
9031	BAZ1B	HP:0000739	Anxiety
9031	BAZ1B	HP:0000716	Depression
9031	BAZ1B	HP:0000717	Autism
9031	BAZ1B	HP:0000722	Compulsive behaviors
9031	BAZ1B	HP:0000787	Nephrolithiasis
9031	BAZ1B	HP:0003119	Abnormal circulating lipid concentration
9031	BAZ1B	HP:0004428	Elfin facies
9031	BAZ1B	HP:0003198	Myopathy
9031	BAZ1B	HP:0003196	Short nose
9031	BAZ1B	HP:0000826	Precocious puberty
9031	BAZ1B	HP:0000822	Hypertension
9031	BAZ1B	HP:0000821	Hypothyroidism
9031	BAZ1B	HP:0003236	Elevated circulating creatine kinase concentration
9031	BAZ1B	HP:0003298	Spina bifida occulta
9031	BAZ1B	HP:0000960	Sacral dimple
9031	BAZ1B	HP:0000939	Osteoporosis
9031	BAZ1B	HP:0000938	Osteopenia
9031	BAZ1B	HP:0100240	Synostosis of joints
9031	BAZ1B	HP:0008053	Aplasia/Hypoplasia of the iris
9031	BAZ1B	HP:0007720	Flat cornea
9031	BAZ1B	HP:0000286	Epicanthus
9031	BAZ1B	HP:0000280	Coarse facial features
9031	BAZ1B	HP:0000275	Narrow face
9031	BAZ1B	HP:0005113	Aortic arch aneurysm
9031	BAZ1B	HP:0002829	Arthralgia
9031	BAZ1B	HP:0002808	Kyphosis
9031	BAZ1B	HP:0000252	Microcephaly
9031	BAZ1B	HP:0001582	Redundant skin
9031	BAZ1B	HP:0000212	Gingival overgrowth
9031	BAZ1B	HP:0000232	Everted lower lip vermilion
9031	BAZ1B	HP:0001531	Failure to thrive in infancy
9031	BAZ1B	HP:0002857	Genu valgum
9031	BAZ1B	HP:0001537	Umbilical hernia
9031	BAZ1B	HP:0001513	Obesity
9031	BAZ1B	HP:0000389	Chronic otitis media
9031	BAZ1B	HP:0001609	Hoarse voice
9031	BAZ1B	HP:0001608	Abnormality of the voice
9031	BAZ1B	HP:0001618	Dysphonia
9031	BAZ1B	HP:0006482	Abnormality of dental morphology
9031	BAZ1B	HP:0000368	Low-set, posteriorly rotated ears
9031	BAZ1B	HP:0001671	Abnormal cardiac septum morphology
9031	BAZ1B	HP:0000343	Long philtrum
9031	BAZ1B	HP:0011001	Increased bone mineral density
9031	BAZ1B	HP:0000337	Broad forehead
9031	BAZ1B	HP:0002999	Patellar dislocation
9031	BAZ1B	HP:0000348	High forehead
9031	BAZ1B	HP:0000347	Micrognathia
9031	BAZ1B	HP:0001647	Bicuspid aortic valve
9031	BAZ1B	HP:0001643	Patent ductus arteriosus
9031	BAZ1B	HP:0001642	Pulmonic stenosis
9031	BAZ1B	HP:0001645	Sudden cardiac death
9031	BAZ1B	HP:0002974	Radioulnar synostosis
9031	BAZ1B	HP:0001658	Myocardial infarction
9031	BAZ1B	HP:0001653	Mitral regurgitation
9031	BAZ1B	HP:0001629	Ventricular septal defect
9031	BAZ1B	HP:0001626	Abnormality of the cardiovascular system
9031	BAZ1B	HP:0001640	Cardiomegaly
9031	BAZ1B	HP:0001639	Hypertrophic cardiomyopathy
9031	BAZ1B	HP:0001636	Tetralogy of Fallot
9031	BAZ1B	HP:0001635	Congestive heart failure
9031	BAZ1B	HP:0000307	Pointed chin
9031	BAZ1B	HP:0001631	Atrial septal defect
9031	BAZ1B	HP:0001634	Mitral valve prolapse
9031	BAZ1B	HP:0007957	Corneal opacity
9031	BAZ1B	HP:0005344	Abnormal carotid artery morphology
9031	BAZ1B	HP:0000407	Sensorineural hearing impairment
9031	BAZ1B	HP:0000400	Macrotia
9031	BAZ1B	HP:0000486	Strabismus
9031	BAZ1B	HP:0000485	Megalocornea
9031	BAZ1B	HP:0000464	Abnormality of the neck
9031	BAZ1B	HP:0012433	Abnormal social behavior
9031	BAZ1B	HP:0001763	Pes planus
9031	BAZ1B	HP:0000411	Protruding ear
9031	BAZ1B	HP:0000431	Wide nasal bridge
9031	BAZ1B	HP:0000518	Cataract
9031	BAZ1B	HP:0001822	Hallux valgus
9031	BAZ1B	HP:0000505	Visual impairment
9031	BAZ1B	HP:0000501	Glaucoma
9031	BAZ1B	HP:0001800	Hypoplastic toenails
9031	BAZ1B	HP:0000581	Blepharophimosis
9031	BAZ1B	HP:0000545	Myopia
9037	SEMA5A	HP:0010864	Intellectual disability, severe
9037	SEMA5A	HP:0001252	Hypotonia
9037	SEMA5A	HP:0006101	Finger syndactyly
9037	SEMA5A	HP:0000023	Inguinal hernia
9037	SEMA5A	HP:0002650	Scoliosis
9037	SEMA5A	HP:0002757	Recurrent fractures
9037	SEMA5A	HP:0200046	Cat cry
9037	SEMA5A	HP:0200055	Small hand
9037	SEMA5A	HP:0011344	Severe global developmental delay
9037	SEMA5A	HP:0004322	Short stature
9037	SEMA5A	HP:0030680	Abnormality of cardiovascular system morphology
9037	SEMA5A	HP:0005692	Joint hyperflexibility
9037	SEMA5A	HP:0004348	Abnormality of bone mineral density
9037	SEMA5A	HP:0000286	Epicanthus
9037	SEMA5A	HP:0000252	Microcephaly
9037	SEMA5A	HP:0000218	High palate
9037	SEMA5A	HP:0001511	Intrauterine growth retardation
9037	SEMA5A	HP:0000384	Preauricular skin tag
9037	SEMA5A	HP:0001608	Abnormality of the voice
9037	SEMA5A	HP:0000368	Low-set, posteriorly rotated ears
9037	SEMA5A	HP:0000316	Hypertelorism
9037	SEMA5A	HP:0000311	Round face
9037	SEMA5A	HP:0001620	High pitched voice
9037	SEMA5A	HP:0000308	Microretrognathia
9037	SEMA5A	HP:0000494	Downslanted palpebral fissures
9037	SEMA5A	HP:0000470	Short neck
9037	SEMA5A	HP:0000431	Wide nasal bridge
9049	AIP	HP:0001176	Large hands
9049	AIP	HP:0001182	Tapered finger
9049	AIP	HP:0001117	Sudden loss of visual acuity
9049	AIP	HP:0100829	Galactorrhea
9049	AIP	HP:0001250	Seizure
9049	AIP	HP:0001231	Abnormal fingernail morphology
9049	AIP	HP:0007440	Generalized hyperpigmentation
9049	AIP	HP:0100852	Abnormal fear/anxiety-related behavior
9049	AIP	HP:0003859	Cortical diaphyseal thickening of the upper limbs
9049	AIP	HP:0000098	Tall stature
9049	AIP	HP:0012041	Decreased fertility in males
9049	AIP	HP:0000044	Hypogonadotropic hypogonadism
9049	AIP	HP:0000040	Long penis
9049	AIP	HP:0001386	Joint swelling
9049	AIP	HP:0001345	Psychotic mentation
9049	AIP	HP:0000026	Male hypogonadism
9049	AIP	HP:0006191	Deep palmar crease
9049	AIP	HP:0000007	Autosomal recessive inheritance
9049	AIP	HP:0000006	Autosomal dominant inheritance
9049	AIP	HP:0002615	Hypotension
9049	AIP	HP:0033794	Acral overgrowth
9049	AIP	HP:0000179	Thick lower lip vermilion
9049	AIP	HP:0000164	Abnormality of the dentition
9049	AIP	HP:0000158	Macroglossia
9049	AIP	HP:0000141	Amenorrhea
9049	AIP	HP:0000140	Abnormality of the menstrual cycle
9049	AIP	HP:0000135	Hypogonadism
9049	AIP	HP:0000134	Female hypogonadism
9049	AIP	HP:0002758	Osteoarthritis
9049	AIP	HP:0001428	Somatic mutation
9049	AIP	HP:0002017	Nausea and vomiting
9049	AIP	HP:0002013	Vomiting
9049	AIP	HP:0002007	Frontal bossing
9049	AIP	HP:0005978	Type II diabetes mellitus
9049	AIP	HP:0100540	Palpebral edema
9049	AIP	HP:0002076	Migraine
9049	AIP	HP:0003388	Easy fatigability
9049	AIP	HP:0100518	Dysuria
9049	AIP	HP:0011760	Pituitary growth hormone cell adenoma
9049	AIP	HP:0011748	Adrenocorticotropic hormone deficiency
9049	AIP	HP:0011734	Central adrenal insufficiency
9049	AIP	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
9049	AIP	HP:0040270	Impaired glucose tolerance
9049	AIP	HP:0040278	Prolactinoma
9049	AIP	HP:0003416	Spinal canal stenosis
9049	AIP	HP:0008240	Secondary growth hormone deficiency
9049	AIP	HP:0008245	Pituitary hypothyroidism
9049	AIP	HP:0010535	Sleep apnea
9049	AIP	HP:0003401	Paresthesia
9049	AIP	HP:0002230	Generalized hirsutism
9049	AIP	HP:0100786	Hypersomnia
9049	AIP	HP:0007011	Fourth cranial nerve palsy
9049	AIP	HP:0008388	Abnormal toenail morphology
9049	AIP	HP:0001058	Poor wound healing
9049	AIP	HP:0001065	Striae distensae
9049	AIP	HP:0001061	Acne
9049	AIP	HP:0001041	Facial erythema
9049	AIP	HP:0001007	Hirsutism
9049	AIP	HP:0002321	Vertigo
9049	AIP	HP:0002315	Headache
9049	AIP	HP:0100607	Dysmenorrhea
9049	AIP	HP:0001072	Thickened skin
9049	AIP	HP:0100639	Erectile dysfunction
9049	AIP	HP:0030517	Heteronymous hemianopia
9049	AIP	HP:0030521	Bitemporal hemianopia
9049	AIP	HP:0006824	Cranial nerve paralysis
9049	AIP	HP:0006897	Abducens palsy
9049	AIP	HP:0000651	Diplopia
9049	AIP	HP:0001948	Alkalosis
9049	AIP	HP:0000618	Blindness
9049	AIP	HP:0001952	Glucose intolerance
9049	AIP	HP:0011362	Abnormal hair quantity
9049	AIP	HP:0000687	Widely spaced teeth
9049	AIP	HP:0000664	Synophrys
9049	AIP	HP:0005616	Accelerated skeletal maturation
9049	AIP	HP:0000802	Impotence
9049	AIP	HP:0012743	Abdominal obesity
9049	AIP	HP:0011407	Proportionate tall stature
9049	AIP	HP:0000771	Gynecomastia
9049	AIP	HP:0100021	Cerebral palsy
9049	AIP	HP:0000739	Anxiety
9049	AIP	HP:0000716	Depression
9049	AIP	HP:0000712	Emotional lability
9049	AIP	HP:0011462	Young adult onset
9049	AIP	HP:0000787	Nephrolithiasis
9049	AIP	HP:0003154	Increased circulating ACTH level
9049	AIP	HP:0000876	Oligomenorrhea
9049	AIP	HP:0000858	Irregular menstruation
9049	AIP	HP:0000870	Increased circulating prolactin concentration
9049	AIP	HP:0000868	Decreased fertility in females
9049	AIP	HP:0000830	Anterior hypopituitarism
9049	AIP	HP:0000845	Elevated circulating growth hormone concentration
9049	AIP	HP:0012802	Broad jaw
9049	AIP	HP:0000819	Diabetes mellitus
9049	AIP	HP:0000818	Abnormality of the endocrine system
9049	AIP	HP:0000822	Hypertension
9049	AIP	HP:0000823	Delayed puberty
9049	AIP	HP:0003202	Skeletal muscle atrophy
9049	AIP	HP:0004586	Biconcave vertebral bodies
9049	AIP	HP:0000980	Pallor
9049	AIP	HP:0000979	Purpura
9049	AIP	HP:0000975	Hyperhidrosis
9049	AIP	HP:0000978	Bruising susceptibility
9049	AIP	HP:0000956	Acanthosis nigricans
9049	AIP	HP:0000969	Edema
9049	AIP	HP:0000963	Thin skin
9049	AIP	HP:0000939	Osteoporosis
9049	AIP	HP:0000938	Osteopenia
9049	AIP	HP:0000280	Coarse facial features
9049	AIP	HP:0000293	Full cheeks
9049	AIP	HP:0012246	Oculomotor nerve palsy
9049	AIP	HP:0000276	Long face
9049	AIP	HP:0002829	Arthralgia
9049	AIP	HP:0002808	Kyphosis
9049	AIP	HP:0002893	Pituitary adenoma
9049	AIP	HP:0030018	Decreased female libido
9049	AIP	HP:0030016	Dyspareunia
9049	AIP	HP:0031364	Ecchymosis
9049	AIP	HP:0001513	Obesity
9049	AIP	HP:0012378	Fatigue
9049	AIP	HP:0012377	Hemianopia
9049	AIP	HP:0001609	Hoarse voice
9049	AIP	HP:0002920	Decreased circulating ACTH level
9049	AIP	HP:0002900	Hypokalemia
9049	AIP	HP:0000337	Broad forehead
9049	AIP	HP:0001653	Mitral regurgitation
9049	AIP	HP:0002953	Vertebral compression fracture
9049	AIP	HP:0001639	Hypertrophic cardiomyopathy
9049	AIP	HP:0001638	Cardiomyopathy
9049	AIP	HP:0000303	Mandibular prognathia
9049	AIP	HP:0007942	Internal ophthalmoplegia
9049	AIP	HP:0000400	Macrotia
9049	AIP	HP:0001712	Left ventricular hypertrophy
9049	AIP	HP:0001769	Broad foot
9049	AIP	HP:0030269	Increased circulating insulin-like growth factor 1 concentration
9049	AIP	HP:0030265	Wide penis
9049	AIP	HP:0012411	Premature pubarche
9049	AIP	HP:0000445	Wide nose
9049	AIP	HP:0006767	Pituitary prolactin cell adenoma
9049	AIP	HP:0012503	Abnormality of the pituitary gland
9049	AIP	HP:0000529	Progressive visual loss
9049	AIP	HP:0000508	Ptosis
9049	AIP	HP:0001833	Long foot
9049	AIP	HP:0004099	Macrodactyly
9049	AIP	HP:0001869	Deep plantar creases
9051	PSTPIP1	HP:0002583	Colitis
9051	PSTPIP1	HP:0000093	Proteinuria
9051	PSTPIP1	HP:0001376	Limitation of joint mobility
9051	PSTPIP1	HP:0001369	Arthritis
9051	PSTPIP1	HP:0000006	Autosomal dominant inheritance
9051	PSTPIP1	HP:0025452	Pyoderma gangrenosum
9051	PSTPIP1	HP:0001433	Hepatosplenomegaly
9051	PSTPIP1	HP:0002716	Lymphadenopathy
9051	PSTPIP1	HP:0040310	Sterile arthritis
9051	PSTPIP1	HP:0033188	Cystic acne
9051	PSTPIP1	HP:0010702	Increased circulating antibody level
9051	PSTPIP1	HP:0001061	Acne
9051	PSTPIP1	HP:0100651	Type I diabetes mellitus
9051	PSTPIP1	HP:0100658	Cellulitis
9051	PSTPIP1	HP:0100614	Myositis
9051	PSTPIP1	HP:0200039	Pustule
9051	PSTPIP1	HP:0200042	Skin ulcer
9051	PSTPIP1	HP:0001945	Fever
9051	PSTPIP1	HP:0001935	Microcytic anemia
9051	PSTPIP1	HP:0012649	Increased inflammatory response
9051	PSTPIP1	HP:0100280	Crohn's disease
9051	PSTPIP1	HP:0002829	Arthralgia
9051	PSTPIP1	HP:0006380	Knee flexion contracture
9051	PSTPIP1	HP:0012393	Allergy
9051	PSTPIP1	HP:0012378	Fatigue
9051	PSTPIP1	HP:0025616	Sterile abscess
9051	PSTPIP1	HP:0002987	Elbow flexion contracture
9051	PSTPIP1	HP:0011227	Elevated circulating C-reactive protein concentration
9051	PSTPIP1	HP:0001894	Thrombocytosis
9051	PSTPIP1	HP:0001876	Pancytopenia
9054	NFS1	HP:0001254	Lethargy
9054	NFS1	HP:0001250	Seizure
9054	NFS1	HP:0001252	Hypotonia
9054	NFS1	HP:0410288	Hyperamylasemia
9054	NFS1	HP:0000083	Renal insufficiency
9054	NFS1	HP:0001397	Hepatic steatosis
9054	NFS1	HP:0000007	Autosomal recessive inheritance
9054	NFS1	HP:0003355	Aminoaciduria
9054	NFS1	HP:0003348	Hyperalaninemia
9054	NFS1	HP:0002039	Anorexia
9054	NFS1	HP:0002154	Hyperglycinemia
9054	NFS1	HP:0002151	Increased serum lactate
9054	NFS1	HP:0011924	Decreased activity of mitochondrial complex III
9054	NFS1	HP:0008314	Decreased activity of mitochondrial complex II
9054	NFS1	HP:0003648	Lacticaciduria
9054	NFS1	HP:0005521	Disseminated intravascular coagulation
9054	NFS1	HP:0001943	Hypoglycemia
9054	NFS1	HP:0001942	Metabolic acidosis
9054	NFS1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
9054	NFS1	HP:0031964	Elevated circulating alanine aminotransferase concentration
9054	NFS1	HP:0000846	Adrenal insufficiency
9054	NFS1	HP:0003236	Elevated circulating creatine kinase concentration
9054	NFS1	HP:0002878	Respiratory failure
9054	NFS1	HP:0001522	Death in infancy
9054	NFS1	HP:0001639	Hypertrophic cardiomyopathy
9054	NFS1	HP:0001733	Pancreatitis
9056	SLC7A7	HP:0003774	Stage 5 chronic kidney disease
9056	SLC7A7	HP:0001290	Generalized hypotonia
9056	SLC7A7	HP:0001254	Lethargy
9056	SLC7A7	HP:0001252	Hypotonia
9056	SLC7A7	HP:0001249	Intellectual disability
9056	SLC7A7	HP:0001259	Coma
9056	SLC7A7	HP:0002570	Steatorrhea
9056	SLC7A7	HP:0031020	Bone marrow hypercellularity
9056	SLC7A7	HP:0000099	Glomerulonephritis
9056	SLC7A7	HP:0000091	Abnormal renal tubule morphology
9056	SLC7A7	HP:0000093	Proteinuria
9056	SLC7A7	HP:0001399	Hepatic failure
9056	SLC7A7	HP:0001394	Cirrhosis
9056	SLC7A7	HP:0001324	Muscle weakness
9056	SLC7A7	HP:0000007	Autosomal recessive inheritance
9056	SLC7A7	HP:0012156	Hemophagocytosis
9056	SLC7A7	HP:0025435	Increased circulating lactate dehydrogenase concentration
9056	SLC7A7	HP:0008947	Infantile muscular hypotonia
9056	SLC7A7	HP:0002757	Recurrent fractures
9056	SLC7A7	HP:0002756	Pathologic fracture
9056	SLC7A7	HP:0001433	Hepatosplenomegaly
9056	SLC7A7	HP:0002750	Delayed skeletal maturation
9056	SLC7A7	HP:0002718	Recurrent bacterial infections
9056	SLC7A7	HP:0003355	Aminoaciduria
9056	SLC7A7	HP:0002018	Nausea
9056	SLC7A7	HP:0003348	Hyperalaninemia
9056	SLC7A7	HP:0002014	Diarrhea
9056	SLC7A7	HP:0002013	Vomiting
9056	SLC7A7	HP:0100543	Cognitive impairment
9056	SLC7A7	HP:0002093	Respiratory insufficiency
9056	SLC7A7	HP:0002155	Hypertriglyceridemia
9056	SLC7A7	HP:0002154	Hyperglycinemia
9056	SLC7A7	HP:0002151	Increased serum lactate
9056	SLC7A7	HP:0011900	Hypofibrinogenemia
9056	SLC7A7	HP:0003493	Antinuclear antibody positivity
9056	SLC7A7	HP:0003593	Infantile onset
9056	SLC7A7	HP:0002240	Hepatomegaly
9056	SLC7A7	HP:0003532	Ornithinuria
9056	SLC7A7	HP:0002213	Fine hair
9056	SLC7A7	HP:0010702	Increased circulating antibody level
9056	SLC7A7	HP:0008358	Hyperprolinemia
9056	SLC7A7	HP:0011968	Feeding difficulties
9056	SLC7A7	HP:0011966	Elevated plasma citrulline
9056	SLC7A7	HP:0001970	Tubulointerstitial nephritis
9056	SLC7A7	HP:0001956	Truncal obesity
9056	SLC7A7	HP:0001903	Anemia
9056	SLC7A7	HP:0001917	Renal amyloidosis
9056	SLC7A7	HP:0001987	Hyperammonemia
9056	SLC7A7	HP:0004322	Short stature
9056	SLC7A7	HP:0004313	Decreased circulating antibody level
9056	SLC7A7	HP:0004395	Malnutrition
9056	SLC7A7	HP:0000725	Psychotic episodes
9056	SLC7A7	HP:0011424	Increased serum zinc
9056	SLC7A7	HP:0003124	Hypercholesterolemia
9056	SLC7A7	HP:0004431	Complement deficiency
9056	SLC7A7	HP:0030760	Renal fibrosis
9056	SLC7A7	HP:0003141	Increased LDL cholesterol concentration
9056	SLC7A7	HP:0000824	Decreased response to growth hormone stimulation test
9056	SLC7A7	HP:0003233	Decreased HDL cholesterol concentration
9056	SLC7A7	HP:0003217	Hyperglutaminemia
9056	SLC7A7	HP:0003218	Oroticaciduria
9056	SLC7A7	HP:0003202	Skeletal muscle atrophy
9056	SLC7A7	HP:0040223	Pulmonary hemorrhage
9056	SLC7A7	HP:0003297	Hyperlysinuria
9056	SLC7A7	HP:0003281	Increased circulating ferritin concentration
9056	SLC7A7	HP:0003268	Argininuria
9056	SLC7A7	HP:0000974	Hyperextensible skin
9056	SLC7A7	HP:0000973	Cutis laxa
9056	SLC7A7	HP:0000939	Osteoporosis
9056	SLC7A7	HP:0000938	Osteopenia
9056	SLC7A7	HP:0008070	Sparse hair
9056	SLC7A7	HP:0012280	Hepatic amyloidosis
9056	SLC7A7	HP:0012278	Abnormal circulating serine concentration
9056	SLC7A7	HP:0012213	Decreased glomerular filtration rate
9056	SLC7A7	HP:0001508	Failure to thrive
9056	SLC7A7	HP:0006517	Intraalveolar phospholipid accumulation
9056	SLC7A7	HP:0002910	Elevated hepatic transaminase
9056	SLC7A7	HP:0001627	Abnormal heart morphology
9056	SLC7A7	HP:0005368	Abnormality of humoral immunity
9056	SLC7A7	HP:0001733	Pancreatitis
9056	SLC7A7	HP:0001744	Splenomegaly
9056	SLC7A7	HP:0012578	Membranous nephropathy
9056	SLC7A7	HP:0001892	Abnormal bleeding
9056	SLC7A7	HP:0012523	Oral aversion
9056	SLC7A7	HP:0001882	Leukopenia
9056	SLC7A7	HP:0001873	Thrombocytopenia
9060	PAPSS2	HP:0001156	Brachydactyly
9060	PAPSS2	HP:0000007	Autosomal recessive inheritance
9060	PAPSS2	HP:0002651	Spondyloepimetaphyseal dysplasia
9060	PAPSS2	HP:0002751	Kyphoscoliosis
9060	PAPSS2	HP:0003301	Irregular vertebral endplates
9060	PAPSS2	HP:0004626	Lumbar scoliosis
9060	PAPSS2	HP:0001061	Acne
9060	PAPSS2	HP:0001007	Hirsutism
9060	PAPSS2	HP:0009816	Lower limb undergrowth
9060	PAPSS2	HP:0004322	Short stature
9060	PAPSS2	HP:0000926	Platyspondyly
9060	PAPSS2	HP:0000869	Secondary amenorrhea
9060	PAPSS2	HP:0002979	Bowing of the legs
9060	PAPSS2	HP:0012411	Premature pubarche
9071	CLDN10	HP:0000083	Renal insufficiency
9071	CLDN10	HP:0000007	Autosomal recessive inheritance
9071	CLDN10	HP:0000103	Polyuria
9071	CLDN10	HP:0002046	Heat intolerance
9071	CLDN10	HP:0003577	Congenital onset
9071	CLDN10	HP:0001959	Polydipsia
9071	CLDN10	HP:0000787	Nephrolithiasis
9071	CLDN10	HP:0003127	Hypocalciuria
9071	CLDN10	HP:0000843	Hyperparathyroidism
9071	CLDN10	HP:0000958	Dry skin
9071	CLDN10	HP:0000970	Anhidrosis
9071	CLDN10	HP:0000966	Hypohidrosis
9071	CLDN10	HP:0000217	Xerostomia
9071	CLDN10	HP:0002918	Hypermagnesemia
9071	CLDN10	HP:0002900	Hypokalemia
9071	CLDN10	HP:0000522	Alacrima
9075	CLDN2	HP:0033808	Spermatocele
9075	CLDN2	HP:0001419	X-linked recessive inheritance
9075	CLDN2	HP:0011962	Obstructive azoospermia
9075	CLDN2	HP:0000787	Nephrolithiasis
9075	CLDN2	HP:0003251	Male infertility
9076	CLDN1	HP:0001249	Intellectual disability
9076	CLDN1	HP:0100874	Thick hair
9076	CLDN1	HP:0001396	Cholestasis
9076	CLDN1	HP:0001399	Hepatic failure
9076	CLDN1	HP:0001395	Hepatic fibrosis
9076	CLDN1	HP:0000007	Autosomal recessive inheritance
9076	CLDN1	HP:0006297	Enamel hypoplasia
9076	CLDN1	HP:0001409	Portal hypertension
9076	CLDN1	HP:0001408	Bile duct proliferation
9076	CLDN1	HP:0030991	Sclerosing cholangitis
9076	CLDN1	HP:0002240	Hepatomegaly
9076	CLDN1	HP:0002231	Sparse body hair
9076	CLDN1	HP:0002209	Sparse scalp hair
9076	CLDN1	HP:0001036	Parakeratosis
9076	CLDN1	HP:0025092	Epidermal acanthosis
9076	CLDN1	HP:0003623	Neonatal onset
9076	CLDN1	HP:0000682	Abnormal dental enamel morphology
9076	CLDN1	HP:0000677	Oligodontia
9076	CLDN1	HP:0000653	Sparse eyelashes
9076	CLDN1	HP:0000668	Hypodontia
9076	CLDN1	HP:0004552	Scarring alopecia of scalp
9076	CLDN1	HP:0045075	Sparse eyebrow
9076	CLDN1	HP:0000989	Pruritus
9076	CLDN1	HP:0000958	Dry skin
9076	CLDN1	HP:0000956	Acanthosis nigricans
9076	CLDN1	HP:0000952	Jaundice
9076	CLDN1	HP:0040162	Orthokeratosis
9076	CLDN1	HP:0008070	Sparse hair
9076	CLDN1	HP:0008064	Ichthyosis
9076	CLDN1	HP:0001596	Alopecia
9076	CLDN1	HP:0005248	Intrahepatic biliary atresia
9076	CLDN1	HP:0001744	Splenomegaly
9080	CLDN9	HP:0001263	Global developmental delay
9080	CLDN9	HP:0000007	Autosomal recessive inheritance
9080	CLDN9	HP:0000407	Sensorineural hearing impairment
9081	PRY	HP:0000027	Azoospermia
9081	PRY	HP:0001450	Y-linked inheritance
9081	PRY	HP:0011462	Young adult onset
9081	PRY	HP:0003251	Male infertility
9082	XKRY	HP:0000027	Azoospermia
9082	XKRY	HP:0001450	Y-linked inheritance
9082	XKRY	HP:0011462	Young adult onset
9082	XKRY	HP:0003251	Male infertility
9083	BPY2	HP:0000027	Azoospermia
9083	BPY2	HP:0001450	Y-linked inheritance
9083	BPY2	HP:0011462	Young adult onset
9083	BPY2	HP:0003251	Male infertility
9084	VCY	HP:0000027	Azoospermia
9084	VCY	HP:0001450	Y-linked inheritance
9084	VCY	HP:0011462	Young adult onset
9084	VCY	HP:0003251	Male infertility
9085	CDY1	HP:0000027	Azoospermia
9085	CDY1	HP:0001450	Y-linked inheritance
9085	CDY1	HP:0011462	Young adult onset
9085	CDY1	HP:0003251	Male infertility
9091	PIGQ	HP:0009909	Uplifted earlobe
9091	PIGQ	HP:0010851	EEG with burst suppression
9091	PIGQ	HP:0010850	EEG with spike-wave complexes
9091	PIGQ	HP:0002421	Poor head control
9091	PIGQ	HP:0001272	Cerebellar atrophy
9091	PIGQ	HP:0001250	Seizure
9091	PIGQ	HP:0001249	Intellectual disability
9091	PIGQ	HP:0001266	Choreoathetosis
9091	PIGQ	HP:0001263	Global developmental delay
9091	PIGQ	HP:0001257	Spasticity
9091	PIGQ	HP:0007359	Focal-onset seizure
9091	PIGQ	HP:0002521	Hypsarrhythmia
9091	PIGQ	HP:0002506	Diffuse cerebral atrophy
9091	PIGQ	HP:0000076	Vesicoureteral reflux
9091	PIGQ	HP:0000070	Ureterocele
9091	PIGQ	HP:0000054	Micropenis
9091	PIGQ	HP:0000023	Inguinal hernia
9091	PIGQ	HP:0001357	Plagiocephaly
9091	PIGQ	HP:0008872	Feeding difficulties in infancy
9091	PIGQ	HP:0031165	Multifocal seizures
9091	PIGQ	HP:0001332	Dystonia
9091	PIGQ	HP:0000007	Autosomal recessive inheritance
9091	PIGQ	HP:0001337	Tremor
9091	PIGQ	HP:0001336	Myoclonus
9091	PIGQ	HP:0001302	Pachygyria
9091	PIGQ	HP:0002650	Scoliosis
9091	PIGQ	HP:0000175	Cleft palate
9091	PIGQ	HP:0008947	Infantile muscular hypotonia
9091	PIGQ	HP:0000110	Renal dysplasia
9091	PIGQ	HP:0002714	Downturned corners of mouth
9091	PIGQ	HP:0002069	Bilateral tonic-clonic seizure
9091	PIGQ	HP:0002079	Hypoplasia of the corpus callosum
9091	PIGQ	HP:0002121	Generalized non-motor (absence) seizure
9091	PIGQ	HP:0002119	Ventriculomegaly
9091	PIGQ	HP:0002131	Episodic ataxia
9091	PIGQ	HP:0010544	Vertical nystagmus
9091	PIGQ	HP:0100704	Cerebral visual impairment
9091	PIGQ	HP:0100716	Self-injurious behavior
9091	PIGQ	HP:0002360	Sleep disturbance
9091	PIGQ	HP:0002376	Developmental regression
9091	PIGQ	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
9091	PIGQ	HP:0002353	EEG abnormality
9091	PIGQ	HP:0007204	Diffuse white matter abnormalities
9091	PIGQ	HP:0100660	Dyskinesia
9091	PIGQ	HP:0010819	Atonic seizure
9091	PIGQ	HP:0010818	Generalized tonic seizure
9091	PIGQ	HP:0009023	Abdominal wall muscle weakness
9091	PIGQ	HP:0000803	Renal cortical cysts
9091	PIGQ	HP:0000752	Hyperactivity
9091	PIGQ	HP:0000767	Pectus excavatum
9091	PIGQ	HP:0000729	Autistic behavior
9091	PIGQ	HP:0010174	Broad phalanx of the toes
9091	PIGQ	HP:0003155	Elevated circulating alkaline phosphatase concentration
9091	PIGQ	HP:0000826	Precocious puberty
9091	PIGQ	HP:0030822	Hooded upper eyelid
9091	PIGQ	HP:0000977	Soft skin
9091	PIGQ	HP:0009381	Short finger
9091	PIGQ	HP:0000280	Coarse facial features
9091	PIGQ	HP:0000293	Full cheeks
9091	PIGQ	HP:0000260	Wide anterior fontanel
9091	PIGQ	HP:0000252	Microcephaly
9091	PIGQ	HP:0000219	Thin upper lip vermilion
9091	PIGQ	HP:0001561	Polyhydramnios
9091	PIGQ	HP:0001540	Diastasis recti
9091	PIGQ	HP:0001537	Umbilical hernia
9091	PIGQ	HP:0001508	Failure to thrive
9091	PIGQ	HP:0001500	Broad finger
9091	PIGQ	HP:0000340	Sloping forehead
9091	PIGQ	HP:0000343	Long philtrum
9091	PIGQ	HP:0000347	Micrognathia
9091	PIGQ	HP:0032794	Myoclonic seizure
9091	PIGQ	HP:0000319	Smooth philtrum
9091	PIGQ	HP:0001629	Ventricular septal defect
9091	PIGQ	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
9091	PIGQ	HP:0011169	Generalized clonic seizure
9091	PIGQ	HP:0005280	Depressed nasal bridge
9091	PIGQ	HP:0000483	Astigmatism
9091	PIGQ	HP:0000486	Strabismus
9091	PIGQ	HP:0012469	Infantile spasms
9091	PIGQ	HP:0000463	Anteverted nares
9091	PIGQ	HP:0012448	Delayed myelination
9091	PIGQ	HP:0000455	Broad nasal tip
9091	PIGQ	HP:0000522	Alacrima
9091	PIGQ	HP:0000506	Telecanthus
9091	PIGQ	HP:0000508	Ptosis
9091	PIGQ	HP:0012554	Absent thumbnail
9091	PIGQ	HP:0001869	Deep plantar creases
9094	UNC119	HP:0032275	Recurrent shingles
9094	UNC119	HP:0010976	B lymphocytopenia
9094	UNC119	HP:0000006	Autosomal dominant inheritance
9094	UNC119	HP:0002788	Recurrent upper respiratory tract infections
9094	UNC119	HP:0002721	Immunodeficiency
9094	UNC119	HP:0100582	Nasal polyposis
9094	UNC119	HP:0002110	Bronchiectasis
9094	UNC119	HP:0033222	Decreased CD4:CD8 ratio
9094	UNC119	HP:0011945	Bronchiolitis obliterans organizing pneumonia
9094	UNC119	HP:0000613	Photophobia
9094	UNC119	HP:0000662	Nyctalopia
9094	UNC119	HP:0007703	Abnormality of retinal pigmentation
9094	UNC119	HP:0006532	Recurrent pneumonia
9094	UNC119	HP:0000403	Recurrent otitis media
9094	UNC119	HP:0011108	Recurrent sinusitis
9094	UNC119	HP:0005407	Decreased proportion of CD4-positive helper T cells
9094	UNC119	HP:0005403	T lymphocytopenia
9094	UNC119	HP:0000505	Visual impairment
9094	UNC119	HP:0001888	Lymphopenia
9094	UNC119	HP:0000551	Color vision defect
9095	TBX19	HP:0001250	Seizure
9095	TBX19	HP:0001396	Cholestasis
9095	TBX19	HP:0000007	Autosomal recessive inheritance
9095	TBX19	HP:0002615	Hypotension
9095	TBX19	HP:0012115	Hepatitis
9095	TBX19	HP:0011748	Adrenocorticotropic hormone deficiency
9095	TBX19	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
9095	TBX19	HP:0008163	Decreased circulating cortisol level
9095	TBX19	HP:0002153	Hyperkalemia
9095	TBX19	HP:0002173	Hypoglycemic seizures
9095	TBX19	HP:0003593	Infantile onset
9095	TBX19	HP:0001998	Neonatal hypoglycemia
9095	TBX19	HP:0003162	Fasting hypoglycemia
9095	TBX19	HP:0000835	Adrenal hypoplasia
9095	TBX19	HP:0000952	Jaundice
9095	TBX19	HP:0012378	Fatigue
9095	TBX19	HP:0006579	Prolonged neonatal jaundice
9095	TBX19	HP:0002902	Hyponatremia
9096	TBX18	HP:0008676	Congenital megaureter
9096	TBX18	HP:0000089	Renal hypoplasia
9096	TBX18	HP:0000083	Renal insufficiency
9096	TBX18	HP:0000072	Hydroureter
9096	TBX18	HP:0000074	Ureteropelvic junction obstruction
9096	TBX18	HP:0000006	Autosomal dominant inheritance
9096	TBX18	HP:0000126	Hydronephrosis
9096	TBX18	HP:0000110	Renal dysplasia
9096	TBX18	HP:0003418	Back pain
9096	TBX18	HP:0004719	Hyperechogenic kidneys
9096	TBX18	HP:0003596	Middle age onset
9096	TBX18	HP:0003621	Juvenile onset
9096	TBX18	HP:0011463	Childhood onset
9096	TBX18	HP:0011462	Young adult onset
9096	TBX18	HP:0011461	Fetal onset
9096	TBX18	HP:0030157	Flank pain
9101	USP8	HP:0001123	Visual field defect
9101	USP8	HP:0010885	Avascular necrosis
9101	USP8	HP:0001297	Stroke
9101	USP8	HP:0025269	Panic attack
9101	USP8	HP:0001249	Intellectual disability
9101	USP8	HP:0001258	Spastic paraplegia
9101	USP8	HP:0100852	Abnormal fear/anxiety-related behavior
9101	USP8	HP:0002509	Limb hypertonia
9101	USP8	HP:0002500	Abnormal cerebral white matter morphology
9101	USP8	HP:0025383	Dorsocervical fat pad
9101	USP8	HP:0012030	Increased urinary cortisol level
9101	USP8	HP:0001345	Psychotic mentation
9101	USP8	HP:0002690	Large sella turcica
9101	USP8	HP:0001324	Muscle weakness
9101	USP8	HP:0000007	Autosomal recessive inheritance
9101	USP8	HP:0000006	Autosomal dominant inheritance
9101	USP8	HP:0001317	Abnormal cerebellum morphology
9101	USP8	HP:0000141	Amenorrhea
9101	USP8	HP:0031284	Flushing
9101	USP8	HP:0500011	Moon facies
9101	USP8	HP:0002721	Immunodeficiency
9101	USP8	HP:0002086	Abnormality of the respiratory system
9101	USP8	HP:0002064	Spastic gait
9101	USP8	HP:0002061	Lower limb spasticity
9101	USP8	HP:0040270	Impaired glucose tolerance
9101	USP8	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
9101	USP8	HP:0002169	Clonus
9101	USP8	HP:0008221	Adrenal hyperplasia
9101	USP8	HP:0008291	Pituitary corticotropic cell adenoma
9101	USP8	HP:0002209	Sparse scalp hair
9101	USP8	HP:0011999	Paranoia
9101	USP8	HP:0001058	Poor wound healing
9101	USP8	HP:0001050	Plethora
9101	USP8	HP:0025017	Capillary fragility
9101	USP8	HP:0002395	Lower limb hyperreflexia
9101	USP8	HP:0001065	Striae distensae
9101	USP8	HP:0001061	Acne
9101	USP8	HP:0001041	Facial erythema
9101	USP8	HP:0001007	Hirsutism
9101	USP8	HP:0002354	Memory impairment
9101	USP8	HP:0002315	Headache
9101	USP8	HP:0200042	Skin ulcer
9101	USP8	HP:0007126	Proximal amyotrophy
9101	USP8	HP:0010741	Pedal edema
9101	USP8	HP:0031845	Abnormal libido
9101	USP8	HP:0031891	Decreased eosinophil count
9101	USP8	HP:0000639	Nystagmus
9101	USP8	HP:0001974	Leukocytosis
9101	USP8	HP:0001948	Alkalosis
9101	USP8	HP:0001956	Truncal obesity
9101	USP8	HP:0001952	Glucose intolerance
9101	USP8	HP:0011370	Recurrent cutaneous fungal infections
9101	USP8	HP:0004324	Increased body weight
9101	USP8	HP:0012743	Abdominal obesity
9101	USP8	HP:0000716	Depression
9101	USP8	HP:0000712	Emotional lability
9101	USP8	HP:0000726	Dementia
9101	USP8	HP:0000725	Psychotic episodes
9101	USP8	HP:0000709	Psychosis
9101	USP8	HP:0000708	Atypical behavior
9101	USP8	HP:0000787	Nephrolithiasis
9101	USP8	HP:0003118	Increased circulating cortisol level
9101	USP8	HP:0003154	Increased circulating ACTH level
9101	USP8	HP:0000876	Oligomenorrhea
9101	USP8	HP:0000869	Secondary amenorrhea
9101	USP8	HP:0000819	Diabetes mellitus
9101	USP8	HP:0000822	Hypertension
9101	USP8	HP:0010284	Intra-oral hyperpigmentation
9101	USP8	HP:0003202	Skeletal muscle atrophy
9101	USP8	HP:0004586	Biconcave vertebral bodies
9101	USP8	HP:0000979	Purpura
9101	USP8	HP:0000978	Bruising susceptibility
9101	USP8	HP:0000953	Hyperpigmentation of the skin
9101	USP8	HP:0000969	Edema
9101	USP8	HP:0000963	Thin skin
9101	USP8	HP:0000939	Osteoporosis
9101	USP8	HP:0002808	Kyphosis
9101	USP8	HP:0002893	Pituitary adenoma
9101	USP8	HP:0031364	Ecchymosis
9101	USP8	HP:0001513	Obesity
9101	USP8	HP:0007807	Optic nerve compression
9101	USP8	HP:0030200	Fatiguable weakness of proximal limb muscles
9101	USP8	HP:0002900	Hypokalemia
9101	USP8	HP:0001658	Myocardial infarction
9101	USP8	HP:0001626	Abnormality of the cardiovascular system
9101	USP8	HP:0002953	Vertebral compression fracture
9101	USP8	HP:0031589	Suicidal ideation
9101	USP8	HP:0001762	Talipes equinovarus
9101	USP8	HP:0001888	Lymphopenia
9103	FCGR2C	HP:0001342	Cerebral hemorrhage
9103	FCGR2C	HP:0002239	Gastrointestinal hemorrhage
9103	FCGR2C	HP:0001907	Thromboembolism
9103	FCGR2C	HP:0004420	Arterial thrombosis
9103	FCGR2C	HP:0000979	Purpura
9103	FCGR2C	HP:0000978	Bruising susceptibility
9103	FCGR2C	HP:0000967	Petechiae
9103	FCGR2C	HP:0000225	Gingival bleeding
9103	FCGR2C	HP:0000421	Epistaxis
9103	FCGR2C	HP:0001873	Thrombocytopenia
9126	SMC3	HP:0001156	Brachydactyly
9126	SMC3	HP:0002465	Poor speech
9126	SMC3	HP:0010880	Increased nuchal translucency
9126	SMC3	HP:0010864	Intellectual disability, severe
9126	SMC3	HP:0001276	Hypertonia
9126	SMC3	HP:0001250	Seizure
9126	SMC3	HP:0002580	Volvulus
9126	SMC3	HP:0001252	Hypotonia
9126	SMC3	HP:0001249	Intellectual disability
9126	SMC3	HP:0001263	Global developmental delay
9126	SMC3	HP:0002557	Hypoplastic nipples
9126	SMC3	HP:0002566	Intestinal malrotation
9126	SMC3	HP:0008736	Hypoplasia of penis
9126	SMC3	HP:0100874	Thick hair
9126	SMC3	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9126	SMC3	HP:0002553	Highly arched eyebrow
9126	SMC3	HP:0000083	Renal insufficiency
9126	SMC3	HP:0000059	Hypoplastic labia majora
9126	SMC3	HP:0000076	Vesicoureteral reflux
9126	SMC3	HP:0000072	Hydroureter
9126	SMC3	HP:0001385	Hip dysplasia
9126	SMC3	HP:0001387	Joint stiffness
9126	SMC3	HP:0000047	Hypospadias
9126	SMC3	HP:0001357	Plagiocephaly
9126	SMC3	HP:0000028	Cryptorchidism
9126	SMC3	HP:0008872	Feeding difficulties in infancy
9126	SMC3	HP:0008850	Severe postnatal growth retardation
9126	SMC3	HP:0000003	Multicystic kidney dysplasia
9126	SMC3	HP:0000006	Autosomal dominant inheritance
9126	SMC3	HP:0012165	Oligodactyly
9126	SMC3	HP:0000175	Cleft palate
9126	SMC3	HP:0001476	Delayed closure of the anterior fontanelle
9126	SMC3	HP:0007665	Curly eyelashes
9126	SMC3	HP:0007598	Bilateral single transverse palmar creases
9126	SMC3	HP:0000130	Abnormality of the uterus
9126	SMC3	HP:0002750	Delayed skeletal maturation
9126	SMC3	HP:0002714	Downturned corners of mouth
9126	SMC3	HP:0002021	Pyloric stenosis
9126	SMC3	HP:0002020	Gastroesophageal reflux
9126	SMC3	HP:0002007	Frontal bossing
9126	SMC3	HP:0100543	Cognitive impairment
9126	SMC3	HP:0002120	Cerebral cortical atrophy
9126	SMC3	HP:0002119	Ventriculomegaly
9126	SMC3	HP:0009623	Proximal placement of thumb
9126	SMC3	HP:0002167	Abnormality of speech or vocalization
9126	SMC3	HP:0002162	Low posterior hairline
9126	SMC3	HP:0002230	Generalized hirsutism
9126	SMC3	HP:0007018	Attention deficit hyperactivity disorder
9126	SMC3	HP:0001052	Nevus flammeus
9126	SMC3	HP:0002360	Sleep disturbance
9126	SMC3	HP:0001007	Hirsutism
9126	SMC3	HP:0009830	Peripheral neuropathy
9126	SMC3	HP:0200055	Small hand
9126	SMC3	HP:0004209	Clinodactyly of the 5th finger
9126	SMC3	HP:0000639	Nystagmus
9126	SMC3	HP:0001956	Truncal obesity
9126	SMC3	HP:0010034	Short 1st metacarpal
9126	SMC3	HP:0000684	Delayed eruption of teeth
9126	SMC3	HP:0000691	Microdontia
9126	SMC3	HP:0000687	Widely spaced teeth
9126	SMC3	HP:0000667	Phthisis bulbi
9126	SMC3	HP:0000664	Synophrys
9126	SMC3	HP:0004322	Short stature
9126	SMC3	HP:0030680	Abnormality of cardiovascular system morphology
9126	SMC3	HP:0003042	Elbow dislocation
9126	SMC3	HP:0000767	Pectus excavatum
9126	SMC3	HP:0000739	Anxiety
9126	SMC3	HP:0000717	Autism
9126	SMC3	HP:0000722	Compulsive behaviors
9126	SMC3	HP:0011451	Primary microcephaly
9126	SMC3	HP:0000776	Congenital diaphragmatic hernia
9126	SMC3	HP:0000786	Primary amenorrhea
9126	SMC3	HP:0003196	Short nose
9126	SMC3	HP:0000823	Delayed puberty
9126	SMC3	HP:0040071	Abnormal morphology of ulna
9126	SMC3	HP:0009237	Short 5th finger
9126	SMC3	HP:0030820	Hooded eyelid
9126	SMC3	HP:0010300	Abnormally low-pitched voice
9126	SMC3	HP:0000954	Single transverse palmar crease
9126	SMC3	HP:0000965	Cutis marmorata
9126	SMC3	HP:0000294	Low anterior hairline
9126	SMC3	HP:0002827	Hip dislocation
9126	SMC3	HP:0000252	Microcephaly
9126	SMC3	HP:0000248	Brachycephaly
9126	SMC3	HP:0000219	Thin upper lip vermilion
9126	SMC3	HP:0000218	High palate
9126	SMC3	HP:0000233	Thin vermilion border
9126	SMC3	HP:0001557	Prenatal movement abnormality
9126	SMC3	HP:0001508	Failure to thrive
9126	SMC3	HP:0001511	Intrauterine growth retardation
9126	SMC3	HP:0012368	Flat face
9126	SMC3	HP:0000365	Hearing impairment
9126	SMC3	HP:0000358	Posteriorly rotated ears
9126	SMC3	HP:0000368	Low-set, posteriorly rotated ears
9126	SMC3	HP:0000343	Long philtrum
9126	SMC3	HP:0002996	Limited elbow movement
9126	SMC3	HP:0000347	Micrognathia
9126	SMC3	HP:0002983	Micromelia
9126	SMC3	HP:0000319	Smooth philtrum
9126	SMC3	HP:0001647	Bicuspid aortic valve
9126	SMC3	HP:0001643	Patent ductus arteriosus
9126	SMC3	HP:0001642	Pulmonic stenosis
9126	SMC3	HP:0002974	Radioulnar synostosis
9126	SMC3	HP:0000324	Facial asymmetry
9126	SMC3	HP:0001629	Ventricular septal defect
9126	SMC3	HP:0001622	Premature birth
9126	SMC3	HP:0001631	Atrial septal defect
9126	SMC3	HP:0000498	Blepharitis
9126	SMC3	HP:0000407	Sensorineural hearing impairment
9126	SMC3	HP:0000405	Conductive hearing impairment
9126	SMC3	HP:0000400	Macrotia
9126	SMC3	HP:0005280	Depressed nasal bridge
9126	SMC3	HP:0000486	Strabismus
9126	SMC3	HP:0000482	Microcornea
9126	SMC3	HP:0000463	Anteverted nares
9126	SMC3	HP:0000470	Short neck
9126	SMC3	HP:0001770	Toe syndactyly
9126	SMC3	HP:0001773	Short foot
9126	SMC3	HP:0000453	Choanal atresia
9126	SMC3	HP:0000414	Bulbous nose
9126	SMC3	HP:0000413	Atresia of the external auditory canal
9126	SMC3	HP:0000426	Prominent nasal bridge
9126	SMC3	HP:0005484	Secondary microcephaly
9126	SMC3	HP:0000518	Cataract
9126	SMC3	HP:0000527	Long eyelashes
9126	SMC3	HP:0000508	Ptosis
9126	SMC3	HP:0000501	Glaucoma
9126	SMC3	HP:0000579	Nasolacrimal duct obstruction
9126	SMC3	HP:0011230	Laterally extended eyebrow
9126	SMC3	HP:0000574	Thick eyebrow
9126	SMC3	HP:0001883	Talipes
9126	SMC3	HP:0000545	Myopia
9128	PRPF4	HP:0001133	Constriction of peripheral visual field
9128	PRPF4	HP:0001249	Intellectual disability
9128	PRPF4	HP:0008736	Hypoplasia of penis
9128	PRPF4	HP:0001347	Hyperreflexia
9128	PRPF4	HP:0000035	Abnormal testis morphology
9128	PRPF4	HP:0000006	Autosomal dominant inheritance
9128	PRPF4	HP:0000135	Hypogonadism
9128	PRPF4	HP:0007675	Progressive night blindness
9128	PRPF4	HP:0007663	Reduced visual acuity
9128	PRPF4	HP:0005978	Type II diabetes mellitus
9128	PRPF4	HP:0003621	Juvenile onset
9128	PRPF4	HP:0000639	Nystagmus
9128	PRPF4	HP:0000648	Optic atrophy
9128	PRPF4	HP:0000618	Blindness
9128	PRPF4	HP:0000613	Photophobia
9128	PRPF4	HP:0000608	Macular degeneration
9128	PRPF4	HP:0000602	Ophthalmoplegia
9128	PRPF4	HP:0000662	Nyctalopia
9128	PRPF4	HP:0011462	Young adult onset
9128	PRPF4	HP:0000842	Hyperinsulinemia
9128	PRPF4	HP:0000987	Atypical scarring of skin
9128	PRPF4	HP:0008046	Abnormal retinal vascular morphology
9128	PRPF4	HP:0007703	Abnormality of retinal pigmentation
9128	PRPF4	HP:0001513	Obesity
9128	PRPF4	HP:0007843	Attenuation of retinal blood vessels
9128	PRPF4	HP:0000407	Sensorineural hearing impairment
9128	PRPF4	HP:0000405	Conductive hearing impairment
9128	PRPF4	HP:0000463	Anteverted nares
9128	PRPF4	HP:0000431	Wide nasal bridge
9128	PRPF4	HP:0000518	Cataract
9128	PRPF4	HP:0000510	Rod-cone dystrophy
9128	PRPF4	HP:0000512	Abnormal electroretinogram
9128	PRPF4	HP:0000505	Visual impairment
9128	PRPF4	HP:0000501	Glaucoma
9128	PRPF4	HP:0000563	Keratoconus
9128	PRPF4	HP:0000546	Retinal degeneration
9128	PRPF4	HP:0000543	Optic disc pallor
9129	PRPF3	HP:0001249	Intellectual disability
9129	PRPF3	HP:0008736	Hypoplasia of penis
9129	PRPF3	HP:0001347	Hyperreflexia
9129	PRPF3	HP:0000035	Abnormal testis morphology
9129	PRPF3	HP:0000006	Autosomal dominant inheritance
9129	PRPF3	HP:0000135	Hypogonadism
9129	PRPF3	HP:0007675	Progressive night blindness
9129	PRPF3	HP:0005978	Type II diabetes mellitus
9129	PRPF3	HP:0000639	Nystagmus
9129	PRPF3	HP:0000648	Optic atrophy
9129	PRPF3	HP:0000618	Blindness
9129	PRPF3	HP:0000613	Photophobia
9129	PRPF3	HP:0000602	Ophthalmoplegia
9129	PRPF3	HP:0000662	Nyctalopia
9129	PRPF3	HP:0000842	Hyperinsulinemia
9129	PRPF3	HP:0000987	Atypical scarring of skin
9129	PRPF3	HP:0008043	Retinal arteriolar constriction
9129	PRPF3	HP:0008046	Abnormal retinal vascular morphology
9129	PRPF3	HP:0007703	Abnormality of retinal pigmentation
9129	PRPF3	HP:0001513	Obesity
9129	PRPF3	HP:0007987	Progressive visual field defects
9129	PRPF3	HP:0000407	Sensorineural hearing impairment
9129	PRPF3	HP:0000405	Conductive hearing impairment
9129	PRPF3	HP:0000463	Anteverted nares
9129	PRPF3	HP:0000431	Wide nasal bridge
9129	PRPF3	HP:0000518	Cataract
9129	PRPF3	HP:0000510	Rod-cone dystrophy
9129	PRPF3	HP:0000512	Abnormal electroretinogram
9129	PRPF3	HP:0000505	Visual impairment
9129	PRPF3	HP:0000501	Glaucoma
9129	PRPF3	HP:0000575	Scotoma
9129	PRPF3	HP:0000563	Keratoconus
9130	FAM50A	HP:0001250	Seizure
9130	FAM50A	HP:0001249	Intellectual disability
9130	FAM50A	HP:0000175	Cleft palate
9130	FAM50A	HP:0001419	X-linked recessive inheritance
9130	FAM50A	HP:0001417	X-linked inheritance
9130	FAM50A	HP:0011800	Midface retrusion
9130	FAM50A	HP:0005922	Abnormal hand morphology
9130	FAM50A	HP:0200055	Small hand
9130	FAM50A	HP:0004322	Short stature
9130	FAM50A	HP:0000272	Malar flattening
9130	FAM50A	HP:0000486	Strabismus
9130	FAM50A	HP:0001773	Short foot
9130	FAM50A	HP:0000518	Cataract
9130	FAM50A	HP:0000501	Glaucoma
9130	FAM50A	HP:0011220	Prominent forehead
9131	AIFM1	HP:0001169	Broad palm
9131	AIFM1	HP:0001156	Brachydactyly
9131	AIFM1	HP:0002490	Increased CSF lactate
9131	AIFM1	HP:0002460	Distal muscle weakness
9131	AIFM1	HP:0002445	Tetraplegia
9131	AIFM1	HP:0007328	Impaired pain sensation
9131	AIFM1	HP:0001290	Generalized hypotonia
9131	AIFM1	HP:0001271	Polyneuropathy
9131	AIFM1	HP:0001288	Gait disturbance
9131	AIFM1	HP:0001284	Areflexia
9131	AIFM1	HP:0001250	Seizure
9131	AIFM1	HP:0001252	Hypotonia
9131	AIFM1	HP:0001251	Ataxia
9131	AIFM1	HP:0001249	Intellectual disability
9131	AIFM1	HP:0001265	Hyporeflexia
9131	AIFM1	HP:0001263	Global developmental delay
9131	AIFM1	HP:0001258	Spastic paraplegia
9131	AIFM1	HP:0100864	Short femoral neck
9131	AIFM1	HP:0010994	Abnormal corpus striatum morphology
9131	AIFM1	HP:0006028	Metaphyseal cupping of metacarpals
9131	AIFM1	HP:0001371	Flexion contracture
9131	AIFM1	HP:0001347	Hyperreflexia
9131	AIFM1	HP:0008872	Feeding difficulties in infancy
9131	AIFM1	HP:0008789	Cone-shaped capital femoral epiphysis
9131	AIFM1	HP:0001324	Muscle weakness
9131	AIFM1	HP:0001337	Tremor
9131	AIFM1	HP:0001308	Tongue fasciculations
9131	AIFM1	HP:0002650	Scoliosis
9131	AIFM1	HP:0002651	Spondyloepimetaphyseal dysplasia
9131	AIFM1	HP:0002645	Wormian bones
9131	AIFM1	HP:0025435	Increased circulating lactate dehydrogenase concentration
9131	AIFM1	HP:0008944	Distal lower limb amyotrophy
9131	AIFM1	HP:0002751	Kyphoscoliosis
9131	AIFM1	HP:0002750	Delayed skeletal maturation
9131	AIFM1	HP:0001419	X-linked recessive inheritance
9131	AIFM1	HP:0002747	Respiratory insufficiency due to muscle weakness
9131	AIFM1	HP:0003311	Hypoplasia of the odontoid process
9131	AIFM1	HP:0003324	Generalized muscle weakness
9131	AIFM1	HP:0011800	Midface retrusion
9131	AIFM1	HP:0100543	Cognitive impairment
9131	AIFM1	HP:0002098	Respiratory distress
9131	AIFM1	HP:0002093	Respiratory insufficiency
9131	AIFM1	HP:0002062	Morphological abnormality of the pyramidal tract
9131	AIFM1	HP:0003390	Sensory axonal neuropathy
9131	AIFM1	HP:0002079	Hypoplasia of the corpus callosum
9131	AIFM1	HP:0002059	Cerebral atrophy
9131	AIFM1	HP:0003487	Babinski sign
9131	AIFM1	HP:0002151	Increased serum lactate
9131	AIFM1	HP:0002134	Abnormal basal ganglia morphology
9131	AIFM1	HP:0002188	Delayed CNS myelination
9131	AIFM1	HP:0002197	Generalized-onset seizure
9131	AIFM1	HP:0034585	Cochlear nerve hypoplasia
9131	AIFM1	HP:0010585	Small epiphyses
9131	AIFM1	HP:0003593	Infantile onset
9131	AIFM1	HP:0002273	Tetraparesis
9131	AIFM1	HP:0100707	Abnormal astrocyte morphology
9131	AIFM1	HP:0003557	Increased variability in muscle fiber diameter
9131	AIFM1	HP:0003542	Increased serum pyruvate
9131	AIFM1	HP:0008347	Decreased activity of mitochondrial complex IV
9131	AIFM1	HP:0007002	Motor axonal neuropathy
9131	AIFM1	HP:0002360	Sleep disturbance
9131	AIFM1	HP:0002375	Hypokinesia
9131	AIFM1	HP:0002376	Developmental regression
9131	AIFM1	HP:0003676	Progressive
9131	AIFM1	HP:0002352	Leukoencephalopathy
9131	AIFM1	HP:0003677	Slowly progressive
9131	AIFM1	HP:0002321	Vertigo
9131	AIFM1	HP:0002317	Unsteady gait
9131	AIFM1	HP:0009830	Peripheral neuropathy
9131	AIFM1	HP:0007141	Sensorimotor neuropathy
9131	AIFM1	HP:0007178	Motor polyneuropathy
9131	AIFM1	HP:0006829	Severe muscular hypotonia
9131	AIFM1	HP:0006887	Intellectual disability, progressive
9131	AIFM1	HP:0000639	Nystagmus
9131	AIFM1	HP:0001963	Abnormal speech discrimination
9131	AIFM1	HP:0009053	Distal lower limb muscle weakness
9131	AIFM1	HP:0011343	Moderate global developmental delay
9131	AIFM1	HP:0009025	Increased connective tissue
9131	AIFM1	HP:0000666	Horizontal nystagmus
9131	AIFM1	HP:0004322	Short stature
9131	AIFM1	HP:0004305	Involuntary movements
9131	AIFM1	HP:0003071	Flattened epiphysis
9131	AIFM1	HP:0003016	Metaphyseal widening
9131	AIFM1	HP:0003020	Enlargement of the wrists
9131	AIFM1	HP:0004349	Reduced bone mineral density
9131	AIFM1	HP:0012747	Abnormal brainstem MRI signal intensity
9131	AIFM1	HP:0000763	Sensory neuropathy
9131	AIFM1	HP:0000762	Decreased nerve conduction velocity
9131	AIFM1	HP:0000737	Irritability
9131	AIFM1	HP:0000750	Delayed speech and language development
9131	AIFM1	HP:0012704	Widened subarachnoid space
9131	AIFM1	HP:0011463	Childhood onset
9131	AIFM1	HP:0004454	Abnormal middle ear reflexes
9131	AIFM1	HP:0000926	Platyspondyly
9131	AIFM1	HP:0000907	Anterior rib cupping
9131	AIFM1	HP:0000884	Prominent sternum
9131	AIFM1	HP:0000883	Thin ribs
9131	AIFM1	HP:0003236	Elevated circulating creatine kinase concentration
9131	AIFM1	HP:0030866	Large knee
9131	AIFM1	HP:0005871	Metaphyseal chondrodysplasia
9131	AIFM1	HP:0003202	Skeletal muscle atrophy
9131	AIFM1	HP:0003200	Ragged-red muscle fibers
9131	AIFM1	HP:0009381	Short finger
9131	AIFM1	HP:0000280	Coarse facial features
9131	AIFM1	HP:0000294	Low anterior hairline
9131	AIFM1	HP:0000272	Malar flattening
9131	AIFM1	HP:0006423	Peg-like central prominence of distal tibial metaphyses
9131	AIFM1	HP:0002812	Coxa vara
9131	AIFM1	HP:0002808	Kyphosis
9131	AIFM1	HP:0000218	High palate
9131	AIFM1	HP:0002869	Flared iliac wing
9131	AIFM1	HP:0030051	Tip-toe gait
9131	AIFM1	HP:0002936	Distal sensory impairment
9131	AIFM1	HP:0002942	Thoracic kyphosis
9131	AIFM1	HP:0002910	Elevated hepatic transaminase
9131	AIFM1	HP:0000365	Hearing impairment
9131	AIFM1	HP:0000360	Tinnitus
9131	AIFM1	HP:0000369	Low-set ears
9131	AIFM1	HP:0000316	Hypertelorism
9131	AIFM1	HP:0000407	Sensorineural hearing impairment
9131	AIFM1	HP:0005280	Depressed nasal bridge
9131	AIFM1	HP:0000463	Anteverted nares
9131	AIFM1	HP:0000455	Broad nasal tip
9131	AIFM1	HP:0000470	Short neck
9131	AIFM1	HP:0001769	Broad foot
9131	AIFM1	HP:0001761	Pes cavus
9131	AIFM1	HP:0000505	Visual impairment
9131	AIFM1	HP:0000587	Abnormal optic nerve morphology
9131	AIFM1	HP:0000574	Thick eyebrow
9131	AIFM1	HP:0000543	Optic disc pallor
9131	AIFM1	HP:0000545	Myopia
9132	KCNQ4	HP:0000006	Autosomal dominant inheritance
9132	KCNQ4	HP:0003676	Progressive
9132	KCNQ4	HP:0000365	Hearing impairment
9132	KCNQ4	HP:0000360	Tinnitus
9138	ARHGEF1	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine
9138	ARHGEF1	HP:0010976	B lymphocytopenia
9138	ARHGEF1	HP:0000007	Autosomal recessive inheritance
9138	ARHGEF1	HP:0002783	Recurrent lower respiratory tract infections
9138	ARHGEF1	HP:0002788	Recurrent upper respiratory tract infections
9138	ARHGEF1	HP:0002110	Bronchiectasis
9138	ARHGEF1	HP:0032139	Reduced isohemagglutinin level
9138	ARHGEF1	HP:0003621	Juvenile onset
9138	ARHGEF1	HP:0001973	Autoimmune thrombocytopenia
9138	ARHGEF1	HP:0004315	Decreased circulating IgG level
9138	ARHGEF1	HP:0002850	Decreased circulating total IgM
9138	ARHGEF1	HP:0005353	Recurrent herpes
9138	ARHGEF1	HP:0005428	Severe recurrent varicella
9138	ARHGEF1	HP:0030374	Decreased proportion of memory B cells
9138	ARHGEF1	HP:0030381	Increased proportion of transitional B cells
9147	NEMF	HP:0001290	Generalized hypotonia
9147	NEMF	HP:0001251	Ataxia
9147	NEMF	HP:0001249	Intellectual disability
9147	NEMF	HP:0001263	Global developmental delay
9147	NEMF	HP:0000007	Autosomal recessive inheritance
9147	NEMF	HP:0001337	Tremor
9147	NEMF	HP:0002751	Kyphoscoliosis
9147	NEMF	HP:0002098	Respiratory distress
9147	NEMF	HP:0003477	Peripheral axonal neuropathy
9147	NEMF	HP:0003593	Infantile onset
9147	NEMF	HP:0003693	Distal amyotrophy
9147	NEMF	HP:0000750	Delayed speech and language development
9147	NEMF	HP:0011463	Childhood onset
9149	DYRK1B	HP:0001297	Stroke
9149	DYRK1B	HP:0000006	Autosomal dominant inheritance
9149	DYRK1B	HP:0005978	Type II diabetes mellitus
9149	DYRK1B	HP:0002155	Hypertriglyceridemia
9149	DYRK1B	HP:0003596	Middle age onset
9149	DYRK1B	HP:0001956	Truncal obesity
9149	DYRK1B	HP:0003074	Hyperglycemia
9149	DYRK1B	HP:0012743	Abdominal obesity
9149	DYRK1B	HP:0011462	Young adult onset
9149	DYRK1B	HP:0003124	Hypercholesterolemia
9149	DYRK1B	HP:0003141	Increased LDL cholesterol concentration
9149	DYRK1B	HP:0000822	Hypertension
9149	DYRK1B	HP:0005145	Coronary artery stenosis
9149	DYRK1B	HP:0001658	Myocardial infarction
9150	CTDP1	HP:0001171	Split hand
9150	CTDP1	HP:0007256	Abnormal pyramidal sign
9150	CTDP1	HP:0001270	Motor delay
9150	CTDP1	HP:0001256	Intellectual disability, mild
9150	CTDP1	HP:0001251	Ataxia
9150	CTDP1	HP:0001249	Intellectual disability
9150	CTDP1	HP:0001263	Global developmental delay
9150	CTDP1	HP:0008734	Decreased testicular size
9150	CTDP1	HP:0000044	Hypogonadotropic hypogonadism
9150	CTDP1	HP:0000007	Autosomal recessive inheritance
9150	CTDP1	HP:0001310	Dysmetria
9150	CTDP1	HP:0002650	Scoliosis
9150	CTDP1	HP:0000164	Abnormality of the dentition
9150	CTDP1	HP:0008942	Acute rhabdomyolysis
9150	CTDP1	HP:0002751	Kyphoscoliosis
9150	CTDP1	HP:0003319	Abnormality of the cervical spine
9150	CTDP1	HP:0002080	Intention tremor
9150	CTDP1	HP:0100543	Cognitive impairment
9150	CTDP1	HP:0002072	Chorea
9150	CTDP1	HP:0002059	Cerebral atrophy
9150	CTDP1	HP:0003487	Babinski sign
9150	CTDP1	HP:0002120	Cerebral cortical atrophy
9150	CTDP1	HP:0002119	Ventriculomegaly
9150	CTDP1	HP:0003431	Decreased motor nerve conduction velocity
9150	CTDP1	HP:0100490	Camptodactyly of finger
9150	CTDP1	HP:0008214	Decreased serum estradiol
9150	CTDP1	HP:0003401	Paresthesia
9150	CTDP1	HP:0003593	Infantile onset
9150	CTDP1	HP:0007002	Motor axonal neuropathy
9150	CTDP1	HP:0010620	Malar prominence
9150	CTDP1	HP:0007182	Peripheral hypomyelination
9150	CTDP1	HP:0007178	Motor polyneuropathy
9150	CTDP1	HP:0000639	Nystagmus
9150	CTDP1	HP:0001943	Hypoglycemia
9150	CTDP1	HP:0001999	Abnormal facial shape
9150	CTDP1	HP:0004322	Short stature
9150	CTDP1	HP:0000763	Sensory neuropathy
9150	CTDP1	HP:0000764	Peripheral axonal degeneration
9150	CTDP1	HP:0000786	Primary amenorrhea
9150	CTDP1	HP:0003134	Abnormality of peripheral nerve conduction
9150	CTDP1	HP:0000815	Hypergonadotropic hypogonadism
9150	CTDP1	HP:0040078	Axonal degeneration
9150	CTDP1	HP:0000939	Osteoporosis
9150	CTDP1	HP:0002816	Genu recurvatum
9150	CTDP1	HP:0002808	Kyphosis
9150	CTDP1	HP:0001511	Intrauterine growth retardation
9150	CTDP1	HP:0011096	Peripheral demyelination
9150	CTDP1	HP:0000347	Micrognathia
9150	CTDP1	HP:0000486	Strabismus
9150	CTDP1	HP:0000482	Microcornea
9150	CTDP1	HP:0001762	Talipes equinovarus
9150	CTDP1	HP:0001761	Pes cavus
9150	CTDP1	HP:0000518	Cataract
9150	CTDP1	HP:0000519	Developmental cataract
9150	CTDP1	HP:0000527	Long eyelashes
9150	CTDP1	HP:0000568	Microphthalmia
9152	SLC6A5	HP:0001276	Hypertonia
9152	SLC6A5	HP:0001288	Gait disturbance
9152	SLC6A5	HP:0001279	Syncope
9152	SLC6A5	HP:0001250	Seizure
9152	SLC6A5	HP:0001251	Ataxia
9152	SLC6A5	HP:0001249	Intellectual disability
9152	SLC6A5	HP:0001263	Global developmental delay
9152	SLC6A5	HP:0001257	Spasticity
9152	SLC6A5	HP:0001373	Joint dislocation
9152	SLC6A5	HP:0001387	Joint stiffness
9152	SLC6A5	HP:0001348	Brisk reflexes
9152	SLC6A5	HP:0001347	Hyperreflexia
9152	SLC6A5	HP:0000007	Autosomal recessive inheritance
9152	SLC6A5	HP:0000006	Autosomal dominant inheritance
9152	SLC6A5	HP:0001336	Myoclonus
9152	SLC6A5	HP:0002020	Gastroesophageal reflux
9152	SLC6A5	HP:0002036	Hiatus hernia
9152	SLC6A5	HP:0005943	Respiratory arrest
9152	SLC6A5	HP:0002069	Bilateral tonic-clonic seizure
9152	SLC6A5	HP:0002063	Rigidity
9152	SLC6A5	HP:0002104	Apnea
9152	SLC6A5	HP:0002267	Exaggerated startle response
9152	SLC6A5	HP:0003552	Muscle stiffness
9152	SLC6A5	HP:0100790	Hernia
9152	SLC6A5	HP:0002380	Fasciculations
9152	SLC6A5	HP:0002360	Sleep disturbance
9152	SLC6A5	HP:0100633	Esophagitis
9152	SLC6A5	HP:0003623	Neonatal onset
9152	SLC6A5	HP:0011412	Ventouse delivery
9152	SLC6A5	HP:0100022	Abnormality of movement
9152	SLC6A5	HP:0002827	Hip dislocation
9152	SLC6A5	HP:0001537	Umbilical hernia
9152	SLC6A5	HP:0012420	Meconium stained amniotic fluid
9154	SLC28A1	HP:0000007	Autosomal recessive inheritance
9154	SLC28A1	HP:0032573	Elevated urinary cytidine
9154	SLC28A1	HP:0032574	Elevated urinary uridine level
9158	FIBP	HP:0001176	Large hands
9158	FIBP	HP:0001172	Abnormal thumb morphology
9158	FIBP	HP:0410255	Transient neutropenia
9158	FIBP	HP:0410252	Chronic neutropenia
9158	FIBP	HP:0001256	Intellectual disability, mild
9158	FIBP	HP:0001249	Intellectual disability
9158	FIBP	HP:0001263	Global developmental delay
9158	FIBP	HP:0031069	Abnormal femoral torsion
9158	FIBP	HP:0000098	Tall stature
9158	FIBP	HP:0000023	Inguinal hernia
9158	FIBP	HP:0001328	Specific learning disability
9158	FIBP	HP:0000007	Autosomal recessive inheritance
9158	FIBP	HP:0002667	Nephroblastoma
9158	FIBP	HP:0000003	Multicystic kidney dysplasia
9158	FIBP	HP:0002619	Varicose veins
9158	FIBP	HP:0000158	Macroglossia
9158	FIBP	HP:0000110	Renal dysplasia
9158	FIBP	HP:0000107	Renal cyst
9158	FIBP	HP:0000105	Enlarged kidney
9158	FIBP	HP:0011800	Midface retrusion
9158	FIBP	HP:0004712	Renal malrotation
9158	FIBP	HP:0003577	Congenital onset
9158	FIBP	HP:0100694	Tibial torsion
9158	FIBP	HP:0010741	Pedal edema
9158	FIBP	HP:0000637	Long palpebral fissure
9158	FIBP	HP:0001999	Abnormal facial shape
9158	FIBP	HP:0011407	Proportionate tall stature
9158	FIBP	HP:0000750	Delayed speech and language development
9158	FIBP	HP:0003298	Spina bifida occulta
9158	FIBP	HP:0000286	Epicanthus
9158	FIBP	HP:0000256	Macrocephaly
9158	FIBP	HP:0001548	Overgrowth
9158	FIBP	HP:0030037	Bifid ureter
9158	FIBP	HP:0001520	Large for gestational age
9158	FIBP	HP:0012385	Camptodactyly
9158	FIBP	HP:0002982	Tibial bowing
9158	FIBP	HP:0002979	Bowing of the legs
9158	FIBP	HP:0000316	Hypertelorism
9158	FIBP	HP:0000311	Round face
9158	FIBP	HP:0001629	Ventricular septal defect
9158	FIBP	HP:0001634	Mitral valve prolapse
9158	FIBP	HP:0000407	Sensorineural hearing impairment
9158	FIBP	HP:0000400	Macrotia
9158	FIBP	HP:0001707	Abnormal right ventricle morphology
9158	FIBP	HP:0000483	Astigmatism
9158	FIBP	HP:0000486	Strabismus
9158	FIBP	HP:0000480	Retinal coloboma
9158	FIBP	HP:0012471	Thick vermilion border
9158	FIBP	HP:0000494	Downslanted palpebral fissures
9158	FIBP	HP:0000490	Deeply set eye
9158	FIBP	HP:0001763	Pes planus
9158	FIBP	HP:0000411	Protruding ear
9158	FIBP	HP:0001762	Talipes equinovarus
9158	FIBP	HP:0000518	Cataract
9158	FIBP	HP:0001847	Long hallux
9158	FIBP	HP:0001840	Metatarsus adductus
9158	FIBP	HP:0001833	Long foot
9158	FIBP	HP:0000589	Coloboma
9179	AP4M1	HP:0001181	Adducted thumb
9179	AP4M1	HP:0002465	Poor speech
9179	AP4M1	HP:0002464	Spastic dysarthria
9179	AP4M1	HP:0100962	Shyness
9179	AP4M1	HP:0010864	Intellectual disability, severe
9179	AP4M1	HP:0001272	Cerebellar atrophy
9179	AP4M1	HP:0001250	Seizure
9179	AP4M1	HP:0001252	Hypotonia
9179	AP4M1	HP:0001251	Ataxia
9179	AP4M1	HP:0001263	Global developmental delay
9179	AP4M1	HP:0001257	Spasticity
9179	AP4M1	HP:0002518	Abnormal periventricular white matter morphology
9179	AP4M1	HP:0002515	Waddling gait
9179	AP4M1	HP:0002510	Spastic tetraplegia
9179	AP4M1	HP:0002509	Limb hypertonia
9179	AP4M1	HP:0033683	Jaw hyperreflexia
9179	AP4M1	HP:0008807	Acetabular dysplasia
9179	AP4M1	HP:0001347	Hyperreflexia
9179	AP4M1	HP:0001332	Dystonia
9179	AP4M1	HP:0000007	Autosomal recessive inheritance
9179	AP4M1	HP:0001319	Neonatal hypotonia
9179	AP4M1	HP:0000154	Wide mouth
9179	AP4M1	HP:0002761	Generalized joint laxity
9179	AP4M1	HP:0002079	Hypoplasia of the corpus callosum
9179	AP4M1	HP:0003487	Babinski sign
9179	AP4M1	HP:0002120	Cerebral cortical atrophy
9179	AP4M1	HP:0002119	Ventriculomegaly
9179	AP4M1	HP:0002171	Gliosis
9179	AP4M1	HP:0003577	Congenital onset
9179	AP4M1	HP:0002200	Pseudobulbar signs
9179	AP4M1	HP:0007020	Progressive spastic paraplegia
9179	AP4M1	HP:0002355	Difficulty walking
9179	AP4M1	HP:0010803	Everted upper lip vermilion
9179	AP4M1	HP:0002307	Drooling
9179	AP4M1	HP:0006887	Intellectual disability, progressive
9179	AP4M1	HP:0000646	Amblyopia
9179	AP4M1	HP:0004322	Short stature
9179	AP4M1	HP:0100021	Cerebral palsy
9179	AP4M1	HP:0000733	Abnormal repetitive mannerisms
9179	AP4M1	HP:0012811	Wide nasal ridge
9179	AP4M1	HP:0000280	Coarse facial features
9179	AP4M1	HP:0000297	Facial hypotonia
9179	AP4M1	HP:0002816	Genu recurvatum
9179	AP4M1	HP:0000252	Microcephaly
9179	AP4M1	HP:0000218	High palate
9179	AP4M1	HP:0025502	Overweight
9179	AP4M1	HP:0000341	Narrow forehead
9179	AP4M1	HP:0000322	Short philtrum
9179	AP4M1	HP:0000303	Mandibular prognathia
9179	AP4M1	HP:0000486	Strabismus
9179	AP4M1	HP:0001763	Pes planus
9179	AP4M1	HP:0000414	Bulbous nose
9179	AP4M1	HP:0001762	Talipes equinovarus
9179	AP4M1	HP:0000543	Optic disc pallor
9180	OSMR	HP:0000006	Autosomal dominant inheritance
9180	OSMR	HP:0003581	Adult onset
9180	OSMR	HP:0100725	Lichenification
9180	OSMR	HP:0009830	Peripheral neuropathy
9180	OSMR	HP:0000989	Pruritus
9180	OSMR	HP:0000958	Dry skin
9180	OSMR	HP:0040189	Scaling skin
9180	OSMR	HP:0011034	Amyloidosis
9181	ARHGEF2	HP:0001270	Motor delay
9181	ARHGEF2	HP:0001252	Hypotonia
9181	ARHGEF2	HP:0001249	Intellectual disability
9181	ARHGEF2	HP:0001265	Hyporeflexia
9181	ARHGEF2	HP:0000007	Autosomal recessive inheritance
9181	ARHGEF2	HP:0001320	Cerebellar vermis hypoplasia
9181	ARHGEF2	HP:0012110	Hypoplasia of the pons
9181	ARHGEF2	HP:0002162	Low posterior hairline
9181	ARHGEF2	HP:0003577	Congenital onset
9181	ARHGEF2	HP:0002359	Frequent falls
9181	ARHGEF2	HP:0000649	Abnormality of visual evoked potentials
9181	ARHGEF2	HP:0000646	Amblyopia
9181	ARHGEF2	HP:0006958	Abnormal auditory evoked potentials
9181	ARHGEF2	HP:0000750	Delayed speech and language development
9181	ARHGEF2	HP:0011451	Primary microcephaly
9181	ARHGEF2	HP:0000988	Skin rash
9181	ARHGEF2	HP:0000219	Thin upper lip vermilion
9181	ARHGEF2	HP:0000218	High palate
9181	ARHGEF2	HP:0001500	Broad finger
9181	ARHGEF2	HP:0007811	Horizontal pendular nystagmus
9181	ARHGEF2	HP:0000343	Long philtrum
9181	ARHGEF2	HP:0006610	Wide intermamillary distance
9181	ARHGEF2	HP:0000483	Astigmatism
9181	ARHGEF2	HP:0000486	Strabismus
9181	ARHGEF2	HP:0000494	Downslanted palpebral fissures
9181	ARHGEF2	HP:0000527	Long eyelashes
9181	ARHGEF2	HP:0000508	Ptosis
9181	ARHGEF2	HP:0000543	Optic disc pallor
9184	BUB3	HP:0010880	Increased nuchal translucency
9184	BUB3	HP:0001250	Seizure
9184	BUB3	HP:0001252	Hypotonia
9184	BUB3	HP:0001249	Intellectual disability
9184	BUB3	HP:0001263	Global developmental delay
9184	BUB3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9184	BUB3	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9184	BUB3	HP:0010978	Abnormality of immune system physiology
9184	BUB3	HP:0000062	Ambiguous genitalia
9184	BUB3	HP:0001360	Holoprosencephaly
9184	BUB3	HP:0007565	Multiple cafe-au-lait spots
9184	BUB3	HP:0002664	Neoplasm
9184	BUB3	HP:0002667	Nephroblastoma
9184	BUB3	HP:0000003	Multicystic kidney dysplasia
9184	BUB3	HP:0001305	Dandy-Walker malformation
9184	BUB3	HP:0000175	Cleft palate
9184	BUB3	HP:0012126	Stomach cancer
9184	BUB3	HP:0002797	Osteolysis
9184	BUB3	HP:0002007	Frontal bossing
9184	BUB3	HP:0002119	Ventriculomegaly
9184	BUB3	HP:0002101	Abnormal lung lobation
9184	BUB3	HP:0002104	Apnea
9184	BUB3	HP:0002247	Duodenal atresia
9184	BUB3	HP:0003560	Muscular dystrophy
9184	BUB3	HP:0001000	Abnormality of skin pigmentation
9184	BUB3	HP:0100650	Vaginal neoplasm
9184	BUB3	HP:0200008	Intestinal polyposis
9184	BUB3	HP:0004209	Clinodactyly of the 5th finger
9184	BUB3	HP:0004322	Short stature
9184	BUB3	HP:0003003	Colon cancer
9184	BUB3	HP:0030680	Abnormality of cardiovascular system morphology
9184	BUB3	HP:0000929	Abnormal skull morphology
9184	BUB3	HP:0000924	Abnormality of the skeletal system
9184	BUB3	HP:0000821	Hypothyroidism
9184	BUB3	HP:0000286	Epicanthus
9184	BUB3	HP:0002817	Abnormality of the upper limb
9184	BUB3	HP:0000252	Microcephaly
9184	BUB3	HP:0001561	Polyhydramnios
9184	BUB3	HP:0002859	Rhabdomyosarcoma
9184	BUB3	HP:0001541	Ascites
9184	BUB3	HP:0002863	Myelodysplasia
9184	BUB3	HP:0001511	Intrauterine growth retardation
9184	BUB3	HP:0001510	Growth delay
9184	BUB3	HP:0000365	Hearing impairment
9184	BUB3	HP:0000368	Low-set, posteriorly rotated ears
9184	BUB3	HP:0000340	Sloping forehead
9184	BUB3	HP:0001682	Subvalvular aortic stenosis
9184	BUB3	HP:0001680	Coarctation of aorta
9184	BUB3	HP:0001679	Abnormal aortic morphology
9184	BUB3	HP:0000348	High forehead
9184	BUB3	HP:0000347	Micrognathia
9184	BUB3	HP:0001659	Aortic regurgitation
9184	BUB3	HP:0000325	Triangular face
9184	BUB3	HP:0001631	Atrial septal defect
9184	BUB3	HP:0007957	Corneal opacity
9184	BUB3	HP:0000478	Abnormality of the eye
9184	BUB3	HP:0000494	Downslanted palpebral fissures
9184	BUB3	HP:0000457	Depressed nasal ridge
9184	BUB3	HP:0000445	Wide nose
9184	BUB3	HP:0006721	Acute lymphoblastic leukemia
9184	BUB3	HP:0000518	Cataract
9184	BUB3	HP:0000504	Abnormality of vision
9184	BUB3	HP:0000501	Glaucoma
9184	BUB3	HP:0000568	Microphthalmia
9187	SLC24A1	HP:0007401	Macular atrophy
9187	SLC24A1	HP:0000007	Autosomal recessive inheritance
9187	SLC24A1	HP:0007663	Reduced visual acuity
9187	SLC24A1	HP:0007642	Congenital stationary night blindness
9187	SLC24A1	HP:0000639	Nystagmus
9187	SLC24A1	HP:0030469	Abnormal dark-adapted electroretinogram
9187	SLC24A1	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
9187	SLC24A1	HP:0000662	Nyctalopia
9187	SLC24A1	HP:0030639	Congenital stationary night blindness with abnormal fundus
9187	SLC24A1	HP:0030638	Congenital stationary night blindness with normal fundus
9187	SLC24A1	HP:0011463	Childhood onset
9187	SLC24A1	HP:0007703	Abnormality of retinal pigmentation
9187	SLC24A1	HP:0007843	Attenuation of retinal blood vessels
9187	SLC24A1	HP:0030329	Retinal thinning
9187	SLC24A1	HP:0007984	Electronegative electroretinogram
9187	SLC24A1	HP:0000486	Strabismus
9187	SLC24A1	HP:0031705	Compensatory head posture
9187	SLC24A1	HP:0000580	Pigmentary retinopathy
9187	SLC24A1	HP:0000540	Hypermetropia
9187	SLC24A1	HP:0000551	Color vision defect
9187	SLC24A1	HP:0000545	Myopia
9197	SLC33A1	HP:0007210	Lower limb amyotrophy
9197	SLC33A1	HP:0001272	Cerebellar atrophy
9197	SLC33A1	HP:0001250	Seizure
9197	SLC33A1	HP:0001252	Hypotonia
9197	SLC33A1	HP:0001258	Spastic paraplegia
9197	SLC33A1	HP:0007340	Lower limb muscle weakness
9197	SLC33A1	HP:0002540	Inability to walk
9197	SLC33A1	HP:0003819	Death in childhood
9197	SLC33A1	HP:0001347	Hyperreflexia
9197	SLC33A1	HP:0001324	Muscle weakness
9197	SLC33A1	HP:0001344	Absent speech
9197	SLC33A1	HP:0000007	Autosomal recessive inheritance
9197	SLC33A1	HP:0000006	Autosomal dominant inheritance
9197	SLC33A1	HP:0100561	Spinal cord lesion
9197	SLC33A1	HP:0002064	Spastic gait
9197	SLC33A1	HP:0002061	Lower limb spasticity
9197	SLC33A1	HP:0002059	Cerebral atrophy
9197	SLC33A1	HP:0003487	Babinski sign
9197	SLC33A1	HP:0003457	EMG abnormality
9197	SLC33A1	HP:0003429	CNS hypomyelination
9197	SLC33A1	HP:0002169	Clonus
9197	SLC33A1	HP:0002166	Impaired vibration sensation in the lower limbs
9197	SLC33A1	HP:0003593	Infantile onset
9197	SLC33A1	HP:0007020	Progressive spastic paraplegia
9197	SLC33A1	HP:0011967	Decreased circulating copper concentration
9197	SLC33A1	HP:0002395	Lower limb hyperreflexia
9197	SLC33A1	HP:0003676	Progressive
9197	SLC33A1	HP:0002314	Degeneration of the lateral corticospinal tracts
9197	SLC33A1	HP:0010837	Decreased circulating ceruloplasmin concentration
9197	SLC33A1	HP:0006895	Lower limb hypertonia
9197	SLC33A1	HP:0000639	Nystagmus
9197	SLC33A1	HP:0011344	Severe global developmental delay
9197	SLC33A1	HP:0012704	Widened subarachnoid space
9197	SLC33A1	HP:0012898	Abnormal lower-limb motor evoked potentials
9197	SLC33A1	HP:0003202	Skeletal muscle atrophy
9197	SLC33A1	HP:0008075	Progressive pes cavus
9197	SLC33A1	HP:0002921	Abnormal cerebrospinal fluid morphology
9197	SLC33A1	HP:0000365	Hearing impairment
9197	SLC33A1	HP:0001761	Pes cavus
9197	SLC33A1	HP:0000519	Developmental cataract
9200	HACD1	HP:0002421	Poor head control
9200	HACD1	HP:0003749	Pelvic girdle muscle weakness
9200	HACD1	HP:0001270	Motor delay
9200	HACD1	HP:0001284	Areflexia
9200	HACD1	HP:0001252	Hypotonia
9200	HACD1	HP:0002515	Waddling gait
9200	HACD1	HP:0001374	Congenital hip dislocation
9200	HACD1	HP:0001371	Flexion contracture
9200	HACD1	HP:0000007	Autosomal recessive inheritance
9200	HACD1	HP:0002650	Scoliosis
9200	HACD1	HP:0001315	Reduced tendon reflexes
9200	HACD1	HP:0002643	Neonatal respiratory distress
9200	HACD1	HP:0002751	Kyphoscoliosis
9200	HACD1	HP:0002747	Respiratory insufficiency due to muscle weakness
9200	HACD1	HP:0002015	Dysphagia
9200	HACD1	HP:0003307	Hyperlordosis
9200	HACD1	HP:0003323	Progressive muscle weakness
9200	HACD1	HP:0003324	Generalized muscle weakness
9200	HACD1	HP:0005949	Apneic episodes in infancy
9200	HACD1	HP:0011807	Type 1 muscle fiber atrophy
9200	HACD1	HP:0002086	Abnormality of the respiratory system
9200	HACD1	HP:0003391	Gowers sign
9200	HACD1	HP:0002058	Myopathic facies
9200	HACD1	HP:0003388	Easy fatigability
9200	HACD1	HP:0011922	Abnormal activity of mitochondrial respiratory chain
9200	HACD1	HP:0011842	Abnormal skeletal morphology
9200	HACD1	HP:0003547	Shoulder girdle muscle weakness
9200	HACD1	HP:0004878	Intercostal muscle weakness
9200	HACD1	HP:0002205	Recurrent respiratory infections
9200	HACD1	HP:0011968	Feeding difficulties
9200	HACD1	HP:0011951	Aspiration pneumonia
9200	HACD1	HP:0002360	Sleep disturbance
9200	HACD1	HP:0002315	Headache
9200	HACD1	HP:0003623	Neonatal onset
9200	HACD1	HP:0000602	Ophthalmoplegia
9200	HACD1	HP:0009027	Foot dorsiflexor weakness
9200	HACD1	HP:0000678	Dental crowding
9200	HACD1	HP:0009004	Hypoplasia of the musculature
9200	HACD1	HP:0004396	Poor appetite
9200	HACD1	HP:0004347	Weakness of muscles of respiration
9200	HACD1	HP:0000767	Pectus excavatum
9200	HACD1	HP:0011470	Nasogastric tube feeding in infancy
9200	HACD1	HP:0012785	Flexion contracture of finger
9200	HACD1	HP:0040081	Abnormal circulating creatine kinase concentration
9200	HACD1	HP:0003273	Hip contracture
9200	HACD1	HP:0000276	Long face
9200	HACD1	HP:0006466	Ankle flexion contracture
9200	HACD1	HP:0006380	Knee flexion contracture
9200	HACD1	HP:0002878	Respiratory failure
9200	HACD1	HP:0000218	High palate
9200	HACD1	HP:0001561	Polyhydramnios
9200	HACD1	HP:0001558	Decreased fetal movement
9200	HACD1	HP:0001508	Failure to thrive
9200	HACD1	HP:0012378	Fatigue
9200	HACD1	HP:0005216	Impaired mastication
9200	HACD1	HP:0001609	Hoarse voice
9200	HACD1	HP:0030192	Fatigable weakness of bulbar muscles
9200	HACD1	HP:0001612	Weak cry
9200	HACD1	HP:0002910	Elevated hepatic transaminase
9200	HACD1	HP:0000347	Micrognathia
9200	HACD1	HP:0001648	Cor pulmonale
9200	HACD1	HP:0001643	Patent ductus arteriosus
9200	HACD1	HP:0002987	Elbow flexion contracture
9200	HACD1	HP:0001655	Patent foramen ovale
9200	HACD1	HP:0001627	Abnormal heart morphology
9200	HACD1	HP:0001623	Breech presentation
9200	HACD1	HP:0001631	Atrial septal defect
9200	HACD1	HP:0030319	Weakness of facial musculature
9200	HACD1	HP:0012416	Hypercapnia
9200	HACD1	HP:0012418	Hypoxemia
9200	HACD1	HP:0001762	Talipes equinovarus
9200	HACD1	HP:0001761	Pes cavus
9200	HACD1	HP:0001824	Weight loss
9210	BMP15	HP:0001166	Arachnodactyly
9210	BMP15	HP:0009888	Abnormality of secondary sexual hair
9210	BMP15	HP:0001251	Ataxia
9210	BMP15	HP:0008684	Aplasia/hypoplasia of the uterus
9210	BMP15	HP:0000062	Ambiguous genitalia
9210	BMP15	HP:0000013	Hypoplasia of the uterus
9210	BMP15	HP:0000144	Decreased fertility
9210	BMP15	HP:0000133	Gonadal dysgenesis
9210	BMP15	HP:0002750	Delayed skeletal maturation
9210	BMP15	HP:0001417	X-linked inheritance
9210	BMP15	HP:0010464	Streak ovary
9210	BMP15	HP:0008209	Premature ovarian insufficiency
9210	BMP15	HP:0008214	Decreased serum estradiol
9210	BMP15	HP:0002225	Sparse pubic hair
9210	BMP15	HP:0002206	Pulmonary fibrosis
9210	BMP15	HP:0001007	Hirsutism
9210	BMP15	HP:0003621	Juvenile onset
9210	BMP15	HP:0001939	Abnormality of metabolism/homeostasis
9210	BMP15	HP:0004322	Short stature
9210	BMP15	HP:0005625	Osteoporosis of vertebrae
9210	BMP15	HP:0004349	Reduced bone mineral density
9210	BMP15	HP:0000786	Primary amenorrhea
9210	BMP15	HP:0000869	Secondary amenorrhea
9210	BMP15	HP:0000837	Increased circulating gonadotropin level
9210	BMP15	HP:0000815	Hypergonadotropic hypogonadism
9210	BMP15	HP:0000823	Delayed puberty
9210	BMP15	HP:0010311	Aplasia/Hypoplasia of the breasts
9210	BMP15	HP:0000938	Osteopenia
9210	BMP15	HP:0000252	Microcephaly
9210	BMP15	HP:0000365	Hearing impairment
9211	LGI1	HP:0001249	Intellectual disability
9211	LGI1	HP:0008765	Auditory hallucinations
9211	LGI1	HP:0410263	Brain imaging abnormality
9211	LGI1	HP:0007359	Focal-onset seizure
9211	LGI1	HP:0007334	Bilateral tonic-clonic seizure with focal onset
9211	LGI1	HP:0012005	Deja vu aura
9211	LGI1	HP:0000006	Autosomal dominant inheritance
9211	LGI1	HP:0002069	Bilateral tonic-clonic seizure
9211	LGI1	HP:0002076	Migraine
9211	LGI1	HP:0002197	Generalized-onset seizure
9211	LGI1	HP:0003596	Middle age onset
9211	LGI1	HP:0002266	Focal clonic seizure
9211	LGI1	HP:0100710	Impulsivity
9211	LGI1	HP:0002384	Focal impaired awareness seizure
9211	LGI1	HP:0002381	Aphasia
9211	LGI1	HP:0002367	Visual hallucinations
9211	LGI1	HP:0002349	Focal aware seizure
9211	LGI1	HP:0003621	Juvenile onset
9211	LGI1	HP:0031951	Nocturnal seizures
9211	LGI1	HP:0000716	Depression
9211	LGI1	HP:0000708	Atypical behavior
9211	LGI1	HP:0011462	Young adult onset
9211	LGI1	HP:0032810	Focal sensory seizure with cephalic sensation
9211	LGI1	HP:0032864	Focal aware sensory seizure with auditory features
9211	LGI1	HP:0032759	Focal sensory seizure with vestibular features
9211	LGI1	HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole
9211	LGI1	HP:0012332	Abnormal autonomic nervous system physiology
9211	LGI1	HP:0011185	EEG with focal epileptiform discharges
9211	LGI1	HP:0011182	Interictal epileptiform activity
9211	LGI1	HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
9211	LGI1	HP:0011158	Focal sensory seizure with auditory features
9211	LGI1	HP:0011161	Focal sensory seizure with olfactory features
9211	LGI1	HP:0011165	Focal sensory seizure with visual features
9211	LGI1	HP:0011154	Focal autonomic seizure
9211	LGI1	HP:0032898	Focal automatism seizure
9213	XPR1	HP:0001250	Seizure
9213	XPR1	HP:0001266	Choreoathetosis
9213	XPR1	HP:0001260	Dysarthria
9213	XPR1	HP:0002514	Cerebral calcification
9213	XPR1	HP:0001392	Abnormality of the liver
9213	XPR1	HP:0000006	Autosomal dominant inheritance
9213	XPR1	HP:0001300	Parkinsonism
9213	XPR1	HP:0100543	Cognitive impairment
9213	XPR1	HP:0002119	Ventriculomegaly
9213	XPR1	HP:0002135	Basal ganglia calcification
9213	XPR1	HP:0002269	Abnormality of neuronal migration
9213	XPR1	HP:0002240	Hepatomegaly
9213	XPR1	HP:0003581	Adult onset
9213	XPR1	HP:0003676	Progressive
9213	XPR1	HP:0002354	Memory impairment
9213	XPR1	HP:0031814	Palilalia
9213	XPR1	HP:0001933	Subcutaneous hemorrhage
9213	XPR1	HP:0004305	Involuntary movements
9213	XPR1	HP:0000716	Depression
9213	XPR1	HP:0000726	Dementia
9213	XPR1	HP:0000252	Microcephaly
9213	XPR1	HP:0001511	Intrauterine growth retardation
9213	XPR1	HP:0007957	Corneal opacity
9213	XPR1	HP:0001873	Thrombocytopenia
9215	LARGE1	HP:0002465	Poor speech
9215	LARGE1	HP:0002438	Cerebellar malformation
9215	LARGE1	HP:0002435	Meningocele
9215	LARGE1	HP:0001105	Retinal atrophy
9215	LARGE1	HP:0007260	Type II lissencephaly
9215	LARGE1	HP:0010864	Intellectual disability, severe
9215	LARGE1	HP:0008551	Microtia
9215	LARGE1	HP:0007227	Macrogyria
9215	LARGE1	HP:0003741	Congenital muscular dystrophy
9215	LARGE1	HP:0003701	Proximal muscle weakness
9215	LARGE1	HP:0003712	Skeletal muscle hypertrophy
9215	LARGE1	HP:0007291	Posterior fossa cyst
9215	LARGE1	HP:0001290	Generalized hypotonia
9215	LARGE1	HP:0001276	Hypertonia
9215	LARGE1	HP:0001274	Agenesis of corpus callosum
9215	LARGE1	HP:0001270	Motor delay
9215	LARGE1	HP:0001288	Gait disturbance
9215	LARGE1	HP:0001284	Areflexia
9215	LARGE1	HP:0001250	Seizure
9215	LARGE1	HP:0001252	Hypotonia
9215	LARGE1	HP:0001249	Intellectual disability
9215	LARGE1	HP:0001265	Hyporeflexia
9215	LARGE1	HP:0001263	Global developmental delay
9215	LARGE1	HP:0001262	Excessive daytime somnolence
9215	LARGE1	HP:0008736	Hypoplasia of penis
9215	LARGE1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9215	LARGE1	HP:0007361	Abnormal pons morphology
9215	LARGE1	HP:0002536	Abnormal cortical gyration
9215	LARGE1	HP:0002518	Abnormal periventricular white matter morphology
9215	LARGE1	HP:0002505	Loss of ambulation
9215	LARGE1	HP:0001371	Flexion contracture
9215	LARGE1	HP:0025336	Delayed ability to sit
9215	LARGE1	HP:0000054	Micropenis
9215	LARGE1	HP:0000050	Hypoplastic male external genitalia
9215	LARGE1	HP:0001360	Holoprosencephaly
9215	LARGE1	HP:0000028	Cryptorchidism
9215	LARGE1	HP:0008872	Feeding difficulties in infancy
9215	LARGE1	HP:0001331	Absent septum pellucidum
9215	LARGE1	HP:0001328	Specific learning disability
9215	LARGE1	HP:0001324	Muscle weakness
9215	LARGE1	HP:0001344	Absent speech
9215	LARGE1	HP:0001339	Lissencephaly
9215	LARGE1	HP:0000007	Autosomal recessive inheritance
9215	LARGE1	HP:0001335	Bimanual synkinesia
9215	LARGE1	HP:0001305	Dandy-Walker malformation
9215	LARGE1	HP:0001302	Pachygyria
9215	LARGE1	HP:0001320	Cerebellar vermis hypoplasia
9215	LARGE1	HP:0002650	Scoliosis
9215	LARGE1	HP:0001321	Cerebellar hypoplasia
9215	LARGE1	HP:0001319	Neonatal hypotonia
9215	LARGE1	HP:0001315	Reduced tendon reflexes
9215	LARGE1	HP:0000193	Bifid uvula
9215	LARGE1	HP:0000158	Macroglossia
9215	LARGE1	HP:0000176	Submucous cleft hard palate
9215	LARGE1	HP:0000175	Cleft palate
9215	LARGE1	HP:0025435	Increased circulating lactate dehydrogenase concentration
9215	LARGE1	HP:0008981	Calf muscle hypertrophy
9215	LARGE1	HP:0008947	Infantile muscular hypotonia
9215	LARGE1	HP:0012110	Hypoplasia of the pons
9215	LARGE1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
9215	LARGE1	HP:0000110	Renal dysplasia
9215	LARGE1	HP:0002023	Anal atresia
9215	LARGE1	HP:0003327	Axial muscle weakness
9215	LARGE1	HP:0003325	Limb-girdle muscle weakness
9215	LARGE1	HP:0004637	Decreased cervical spine mobility
9215	LARGE1	HP:0002085	Occipital encephalocele
9215	LARGE1	HP:0100543	Cognitive impairment
9215	LARGE1	HP:0002093	Respiratory insufficiency
9215	LARGE1	HP:0002079	Hypoplasia of the corpus callosum
9215	LARGE1	HP:0009473	Joint contracture of the hand
9215	LARGE1	HP:0003487	Babinski sign
9215	LARGE1	HP:0002120	Cerebral cortical atrophy
9215	LARGE1	HP:0002119	Ventriculomegaly
9215	LARGE1	HP:0003457	EMG abnormality
9215	LARGE1	HP:0002126	Polymicrogyria
9215	LARGE1	HP:0003458	EMG: myopathic abnormalities
9215	LARGE1	HP:0002187	Intellectual disability, profound
9215	LARGE1	HP:0002167	Abnormality of speech or vocalization
9215	LARGE1	HP:0010508	Metatarsus valgus
9215	LARGE1	HP:0003593	Infantile onset
9215	LARGE1	HP:0002269	Abnormality of neuronal migration
9215	LARGE1	HP:0003577	Congenital onset
9215	LARGE1	HP:0003549	Abnormality of connective tissue
9215	LARGE1	HP:0003560	Muscular dystrophy
9215	LARGE1	HP:0007033	Cerebellar dysplasia
9215	LARGE1	HP:0007015	Poor gross motor coordination
9215	LARGE1	HP:0011968	Feeding difficulties
9215	LARGE1	HP:0010628	Facial palsy
9215	LARGE1	HP:0007082	Dilated third ventricle
9215	LARGE1	HP:0007063	Aplasia of the inferior half of the cerebellar vermis
9215	LARGE1	HP:0002395	Lower limb hyperreflexia
9215	LARGE1	HP:0002365	Hypoplasia of the brainstem
9215	LARGE1	HP:0002353	EEG abnormality
9215	LARGE1	HP:0002334	Abnormal cerebellar vermis morphology
9215	LARGE1	HP:0008443	Neuropathic spinal arthropathy
9215	LARGE1	HP:0006829	Severe muscular hypotonia
9215	LARGE1	HP:0031882	Agyria
9215	LARGE1	HP:0006888	Meningoencephalocele
9215	LARGE1	HP:0000648	Optic atrophy
9215	LARGE1	HP:0000618	Blindness
9215	LARGE1	HP:0000612	Iris coloboma
9215	LARGE1	HP:0000609	Optic nerve hypoplasia
9215	LARGE1	HP:0000659	Peters anomaly
9215	LARGE1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
9215	LARGE1	HP:0000666	Horizontal nystagmus
9215	LARGE1	HP:0004322	Short stature
9215	LARGE1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
9215	LARGE1	HP:0006956	Lateral ventricle dilatation
9215	LARGE1	HP:0004374	Hemiplegia/hemiparesis
9215	LARGE1	HP:0031936	Delayed ability to walk
9215	LARGE1	HP:0100022	Abnormality of movement
9215	LARGE1	HP:0000707	Abnormality of the nervous system
9215	LARGE1	HP:0011484	Posterior synechiae of the anterior chamber
9215	LARGE1	HP:0012793	Kinked brainstem
9215	LARGE1	HP:0003198	Myopathy
9215	LARGE1	HP:0040081	Abnormal circulating creatine kinase concentration
9215	LARGE1	HP:0003236	Elevated circulating creatine kinase concentration
9215	LARGE1	HP:0003202	Skeletal muscle atrophy
9215	LARGE1	HP:0045040	Abnormal lactate dehydrogenase level
9215	LARGE1	HP:0008081	Pes valgus
9215	LARGE1	HP:0040173	Abnormality of the tongue muscle
9215	LARGE1	HP:0100297	Increased endomysial connective tissue
9215	LARGE1	HP:0000298	Mask-like facies
9215	LARGE1	HP:0000256	Macrocephaly
9215	LARGE1	HP:0007731	Chorioretinal dysplasia
9215	LARGE1	HP:0002827	Hip dislocation
9215	LARGE1	HP:0002828	Multiple joint contractures
9215	LARGE1	HP:0002803	Congenital contracture
9215	LARGE1	HP:0030099	Reduced muscle fiber alpha dystroglycan
9215	LARGE1	HP:0000238	Hydrocephalus
9215	LARGE1	HP:0000252	Microcephaly
9215	LARGE1	HP:0002878	Respiratory failure
9215	LARGE1	HP:0000204	Cleft upper lip
9215	LARGE1	HP:0030046	Hypoglycosylation of alpha-dystroglycan
9215	LARGE1	HP:0001608	Abnormality of the voice
9215	LARGE1	HP:0030197	Fatigable weakness of skeletal muscles
9215	LARGE1	HP:0000358	Posteriorly rotated ears
9215	LARGE1	HP:0000369	Low-set ears
9215	LARGE1	HP:0000340	Sloping forehead
9215	LARGE1	HP:0000347	Micrognathia
9215	LARGE1	HP:0002987	Elbow flexion contracture
9215	LARGE1	HP:0007957	Corneal opacity
9215	LARGE1	HP:0007973	Retinal dysplasia
9215	LARGE1	HP:0000486	Strabismus
9215	LARGE1	HP:0000485	Megalocornea
9215	LARGE1	HP:0000482	Microcornea
9215	LARGE1	HP:0000478	Abnormality of the eye
9215	LARGE1	HP:0001771	Achilles tendon contracture
9215	LARGE1	HP:0012400	Abnormal circulating aldolase concentration
9215	LARGE1	HP:0000411	Protruding ear
9215	LARGE1	HP:0000413	Atresia of the external auditory canal
9215	LARGE1	HP:0000518	Cataract
9215	LARGE1	HP:0000519	Developmental cataract
9215	LARGE1	HP:0000528	Anophthalmia
9215	LARGE1	HP:0000505	Visual impairment
9215	LARGE1	HP:0000501	Glaucoma
9215	LARGE1	HP:0000580	Pigmentary retinopathy
9215	LARGE1	HP:0000587	Abnormal optic nerve morphology
9215	LARGE1	HP:0000589	Coloboma
9215	LARGE1	HP:0000557	Buphthalmos
9215	LARGE1	HP:0000556	Retinal dystrophy
9215	LARGE1	HP:0000568	Microphthalmia
9215	LARGE1	HP:0000541	Retinal detachment
9215	LARGE1	HP:0000545	Myopia
9217	VAPB	HP:0002483	Bulbar signs
9217	VAPB	HP:0002460	Distal muscle weakness
9217	VAPB	HP:0007269	Spinal muscular atrophy
9217	VAPB	HP:0007256	Abnormal pyramidal sign
9217	VAPB	HP:0003701	Proximal muscle weakness
9217	VAPB	HP:0001284	Areflexia
9217	VAPB	HP:0001265	Hyporeflexia
9217	VAPB	HP:0001260	Dysarthria
9217	VAPB	HP:0001257	Spasticity
9217	VAPB	HP:0007373	Motor neuron atrophy
9217	VAPB	HP:0007354	Amyotrophic lateral sclerosis
9217	VAPB	HP:0002529	Neuronal loss in central nervous system
9217	VAPB	HP:0002505	Loss of ambulation
9217	VAPB	HP:0001337	Tremor
9217	VAPB	HP:0000006	Autosomal dominant inheritance
9217	VAPB	HP:0025425	Laryngospasm
9217	VAPB	HP:0002795	Abnormal respiratory system physiology
9217	VAPB	HP:0002017	Nausea and vomiting
9217	VAPB	HP:0002015	Dysphagia
9217	VAPB	HP:0003323	Progressive muscle weakness
9217	VAPB	HP:0003324	Generalized muscle weakness
9217	VAPB	HP:0100543	Cognitive impairment
9217	VAPB	HP:0002094	Dyspnea
9217	VAPB	HP:0003394	Muscle spasm
9217	VAPB	HP:0002062	Morphological abnormality of the pyramidal tract
9217	VAPB	HP:0003470	Paralysis
9217	VAPB	HP:0003445	EMG: neuropathic changes
9217	VAPB	HP:0002180	Neurodegeneration
9217	VAPB	HP:0002174	Postural tremor
9217	VAPB	HP:0003596	Middle age onset
9217	VAPB	HP:0002380	Fasciculations
9217	VAPB	HP:0003693	Distal amyotrophy
9217	VAPB	HP:0007126	Proximal amyotrophy
9217	VAPB	HP:0000739	Anxiety
9217	VAPB	HP:0000716	Depression
9217	VAPB	HP:0000712	Emotional lability
9217	VAPB	HP:0000713	Agitation
9217	VAPB	HP:0011462	Young adult onset
9217	VAPB	HP:0003202	Skeletal muscle atrophy
9217	VAPB	HP:0000217	Xerostomia
9217	VAPB	HP:0002878	Respiratory failure
9217	VAPB	HP:0012378	Fatigue
9217	VAPB	HP:0030196	Fatigable weakness of respiratory muscles
9217	VAPB	HP:0030195	Fatigable weakness of swallowing muscles
9217	VAPB	HP:0030192	Fatigable weakness of bulbar muscles
9217	VAPB	HP:0025710	Late young adult onset
9217	VAPB	HP:0012531	Pain
9227	LRAT	HP:0001133	Constriction of peripheral visual field
9227	LRAT	HP:0001141	Severely reduced visual acuity
9227	LRAT	HP:0001103	Abnormal macular morphology
9227	LRAT	HP:0001116	Macular coloboma
9227	LRAT	HP:0001250	Seizure
9227	LRAT	HP:0001252	Hypotonia
9227	LRAT	HP:0001249	Intellectual disability
9227	LRAT	HP:0001263	Global developmental delay
9227	LRAT	HP:0008736	Hypoplasia of penis
9227	LRAT	HP:0002527	Falls
9227	LRAT	HP:0001347	Hyperreflexia
9227	LRAT	HP:0000035	Abnormal testis morphology
9227	LRAT	HP:0000007	Autosomal recessive inheritance
9227	LRAT	HP:0000006	Autosomal dominant inheritance
9227	LRAT	HP:0000135	Hypogonadism
9227	LRAT	HP:0007675	Progressive night blindness
9227	LRAT	HP:0007663	Reduced visual acuity
9227	LRAT	HP:0001419	X-linked recessive inheritance
9227	LRAT	HP:0005978	Type II diabetes mellitus
9227	LRAT	HP:0002084	Encephalocele
9227	LRAT	HP:0002172	Postural instability
9227	LRAT	HP:0002269	Abnormality of neuronal migration
9227	LRAT	HP:0002317	Unsteady gait
9227	LRAT	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
9227	LRAT	HP:0000639	Nystagmus
9227	LRAT	HP:0000648	Optic atrophy
9227	LRAT	HP:0000618	Blindness
9227	LRAT	HP:0000613	Photophobia
9227	LRAT	HP:0000622	Blurred vision
9227	LRAT	HP:0000602	Ophthalmoplegia
9227	LRAT	HP:0011342	Mild global developmental delay
9227	LRAT	HP:0000662	Nyctalopia
9227	LRAT	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
9227	LRAT	HP:0004374	Hemiplegia/hemiparesis
9227	LRAT	HP:0011488	Abnormal corneal endothelium morphology
9227	LRAT	HP:0011484	Posterior synechiae of the anterior chamber
9227	LRAT	HP:0012795	Abnormal optic disc morphology
9227	LRAT	HP:0000842	Hyperinsulinemia
9227	LRAT	HP:0000980	Pallor
9227	LRAT	HP:0000987	Atypical scarring of skin
9227	LRAT	HP:0008046	Abnormal retinal vascular morphology
9227	LRAT	HP:0007722	Retinal pigment epithelial atrophy
9227	LRAT	HP:0007703	Abnormality of retinal pigmentation
9227	LRAT	HP:0007793	Granular macular appearance
9227	LRAT	HP:0007787	Posterior subcapsular cataract
9227	LRAT	HP:0007737	Bone spicule pigmentation of the retina
9227	LRAT	HP:0007695	Abnormal pupillary light reflex
9227	LRAT	HP:0012230	Rhegmatogenous retinal detachment
9227	LRAT	HP:0001513	Obesity
9227	LRAT	HP:0007843	Attenuation of retinal blood vessels
9227	LRAT	HP:0007814	Retinal pigment epithelial mottling
9227	LRAT	HP:0007875	Congenital blindness
9227	LRAT	HP:0000365	Hearing impairment
9227	LRAT	HP:0031605	Abnormality of fundus pigmentation
9227	LRAT	HP:0007994	Peripheral visual field loss
9227	LRAT	HP:0000407	Sensorineural hearing impairment
9227	LRAT	HP:0000405	Conductive hearing impairment
9227	LRAT	HP:0000463	Anteverted nares
9227	LRAT	HP:0012434	Delayed social development
9227	LRAT	HP:0012426	Optic disc drusen
9227	LRAT	HP:0000431	Wide nasal bridge
9227	LRAT	HP:0000518	Cataract
9227	LRAT	HP:0000510	Rod-cone dystrophy
9227	LRAT	HP:0000512	Abnormal electroretinogram
9227	LRAT	HP:0000505	Visual impairment
9227	LRAT	HP:0000501	Glaucoma
9227	LRAT	HP:0000577	Exotropia
9227	LRAT	HP:0000563	Keratoconus
9227	LRAT	HP:0000556	Retinal dystrophy
9227	LRAT	HP:0000541	Retinal detachment
9227	LRAT	HP:0000533	Chorioretinal atrophy
9227	LRAT	HP:0000550	Undetectable electroretinogram
9227	LRAT	HP:0000551	Color vision defect
9227	LRAT	HP:0000546	Retinal degeneration
9227	LRAT	HP:0000543	Optic disc pallor
9227	LRAT	HP:0000545	Myopia
9230	RAB11B	HP:0001182	Tapered finger
9230	RAB11B	HP:0001252	Hypotonia
9230	RAB11B	HP:0001249	Intellectual disability
9230	RAB11B	HP:0001263	Global developmental delay
9230	RAB11B	HP:0001257	Spasticity
9230	RAB11B	HP:0001385	Hip dysplasia
9230	RAB11B	HP:0001332	Dystonia
9230	RAB11B	HP:0033725	Thin corpus callosum
9230	RAB11B	HP:0001344	Absent speech
9230	RAB11B	HP:0000006	Autosomal dominant inheritance
9230	RAB11B	HP:0001320	Cerebellar vermis hypoplasia
9230	RAB11B	HP:0002066	Gait ataxia
9230	RAB11B	HP:0002119	Ventriculomegaly
9230	RAB11B	HP:0002136	Broad-based gait
9230	RAB11B	HP:0002188	Delayed CNS myelination
9230	RAB11B	HP:0002197	Generalized-onset seizure
9230	RAB11B	HP:0002194	Delayed gross motor development
9230	RAB11B	HP:0003593	Infantile onset
9230	RAB11B	HP:0011968	Feeding difficulties
9230	RAB11B	HP:0002365	Hypoplasia of the brainstem
9230	RAB11B	HP:0002355	Difficulty walking
9230	RAB11B	HP:0010804	Tented upper lip vermilion
9230	RAB11B	HP:0002307	Drooling
9230	RAB11B	HP:0004209	Clinodactyly of the 5th finger
9230	RAB11B	HP:0000639	Nystagmus
9230	RAB11B	HP:0000648	Optic atrophy
9230	RAB11B	HP:0031936	Delayed ability to walk
9230	RAB11B	HP:0034295	Reduced cerebral white matter volume
9230	RAB11B	HP:0040082	Happy demeanor
9230	RAB11B	HP:0000954	Single transverse palmar crease
9230	RAB11B	HP:0000297	Facial hypotonia
9230	RAB11B	HP:0000252	Microcephaly
9230	RAB11B	HP:0002870	Obstructive sleep apnea
9230	RAB11B	HP:0000395	Prominent antihelix
9230	RAB11B	HP:0000486	Strabismus
9230	RAB11B	HP:0001776	Bilateral talipes equinovarus
9230	RAB11B	HP:0001761	Pes cavus
9230	RAB11B	HP:0001845	Overlapping toe
9230	RAB11B	HP:0000505	Visual impairment
9230	RAB11B	HP:0000582	Upslanted palpebral fissure
9230	RAB11B	HP:0000540	Hypermetropia
9241	NOG	HP:0001156	Brachydactyly
9241	NOG	HP:0008607	Progressive conductive hearing impairment
9241	NOG	HP:0009941	Asymmetry of the mouth
9241	NOG	HP:0009882	Short distal phalanx of finger
9241	NOG	HP:0006109	Absent phalangeal crease
9241	NOG	HP:0006101	Finger syndactyly
9241	NOG	HP:0006077	Absent proximal finger flexion creases
9241	NOG	HP:0001204	Distal symphalangism of hands
9241	NOG	HP:0002515	Waddling gait
9241	NOG	HP:0001387	Joint stiffness
9241	NOG	HP:0006152	Proximal symphalangism of hands
9241	NOG	HP:0006147	Progressive fusion 2nd-5th pip joints
9241	NOG	HP:0000002	Abnormality of body height
9241	NOG	HP:0000006	Autosomal dominant inheritance
9241	NOG	HP:0007598	Bilateral single transverse palmar creases
9241	NOG	HP:0004691	2-3 toe syndactyly
9241	NOG	HP:0009466	Radial deviation of finger
9241	NOG	HP:0005916	Abnormal metacarpal morphology
9241	NOG	HP:0009477	Proximal/middle symphalangism of 4th finger
9241	NOG	HP:0003416	Spinal canal stenosis
9241	NOG	HP:0009623	Proximal placement of thumb
9241	NOG	HP:0011918	Clinodactyly of the 4th toe
9241	NOG	HP:0100490	Camptodactyly of finger
9241	NOG	HP:0010554	Cutaneous finger syndactyly
9241	NOG	HP:0100482	Proximal/middle symphalangism of 5th toe
9241	NOG	HP:0100481	Proximal/middle symphalangism of 4th toe
9241	NOG	HP:0010579	Cone-shaped epiphysis
9241	NOG	HP:0003577	Congenital onset
9241	NOG	HP:0009702	Carpal synostosis
9241	NOG	HP:0008368	Tarsal synostosis
9241	NOG	HP:0010621	Cutaneous syndactyly of toes
9241	NOG	HP:0010624	Aplastic/hypoplastic toenail
9241	NOG	HP:0008386	Aplasia/Hypoplasia of the nails
9241	NOG	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
9241	NOG	HP:0008513	Bilateral conductive hearing impairment
9241	NOG	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
9241	NOG	HP:0009816	Lower limb undergrowth
9241	NOG	HP:0008460	Hypoplastic spinal processes
9241	NOG	HP:0009773	Symphalangism affecting the phalanges of the hand
9241	NOG	HP:0009765	Low hanging columella
9241	NOG	HP:0004209	Clinodactyly of the 5th finger
9241	NOG	HP:0004279	Short palm
9241	NOG	HP:0004220	Short middle phalanx of the 5th finger
9241	NOG	HP:0000646	Amblyopia
9241	NOG	HP:0010047	Short 5th metacarpal
9241	NOG	HP:0010055	Broad hallux
9241	NOG	HP:0010034	Short 1st metacarpal
9241	NOG	HP:0011304	Broad thumb
9241	NOG	HP:0004322	Short stature
9241	NOG	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
9241	NOG	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
9241	NOG	HP:0003070	Elbow ankylosis
9241	NOG	HP:0003083	Dislocated radial head
9241	NOG	HP:0003028	Abnormality of the ankle
9241	NOG	HP:0003042	Elbow dislocation
9241	NOG	HP:0003041	Humeroradial synostosis
9241	NOG	HP:0003022	Hypoplasia of the ulna
9241	NOG	HP:0003019	Abnormality of the wrist
9241	NOG	HP:0000767	Pectus excavatum
9241	NOG	HP:0009177	Proximal/middle symphalangism of 5th finger
9241	NOG	HP:0010109	Short hallux
9241	NOG	HP:0000920	Enlargement of the costochondral junction
9241	NOG	HP:0003189	Long nose
9241	NOG	HP:0005792	Short humerus
9241	NOG	HP:0000879	Short sternum
9241	NOG	HP:0100394	Short middle phalanx of the 5th toe
9241	NOG	HP:0040019	Finger clinodactyly
9241	NOG	HP:0009295	Short middle phalanx of the 4th finger
9241	NOG	HP:0005880	Metacarpophalangeal synostosis
9241	NOG	HP:0005831	Type B brachydactyly
9241	NOG	HP:0100264	Proximal symphalangism
9241	NOG	HP:0000954	Single transverse palmar crease
9241	NOG	HP:0005807	Absent distal phalanges
9241	NOG	HP:0009381	Short finger
9241	NOG	HP:0001597	Abnormality of the nail
9241	NOG	HP:0000275	Narrow face
9241	NOG	HP:0005104	Hypoplastic nasal septum
9241	NOG	HP:0030084	Clinodactyly
9241	NOG	HP:0006385	Short lower limbs
9241	NOG	HP:0005048	Synostosis of carpal bones
9241	NOG	HP:0000219	Thin upper lip vermilion
9241	NOG	HP:0000215	Thick upper lip vermilion
9241	NOG	HP:0000381	Stapes ankylosis
9241	NOG	HP:0002949	Fused cervical vertebrae
9241	NOG	HP:0000364	Hearing abnormality
9241	NOG	HP:0000322	Short philtrum
9241	NOG	HP:0000324	Facial asymmetry
9241	NOG	HP:0002967	Cubitus valgus
9241	NOG	HP:0007943	Congenital stapes ankylosis
9241	NOG	HP:0000407	Sensorineural hearing impairment
9241	NOG	HP:0000405	Conductive hearing impairment
9241	NOG	HP:0000483	Astigmatism
9241	NOG	HP:0000486	Strabismus
9241	NOG	HP:0000466	Limited neck range of motion
9241	NOG	HP:0001798	Anonychia
9241	NOG	HP:0001770	Toe syndactyly
9241	NOG	HP:0001773	Short foot
9241	NOG	HP:0000431	Wide nasal bridge
9241	NOG	HP:0000430	Underdeveloped nasal alae
9241	NOG	HP:0001857	Short distal phalanx of toe
9241	NOG	HP:0000508	Ptosis
9241	NOG	HP:0001831	Short toe
9241	NOG	HP:0001817	Absent fingernail
9241	NOG	HP:0000582	Upslanted palpebral fissure
9241	NOG	HP:0000540	Hypermetropia
9244	CRLF1	HP:0001182	Tapered finger
9244	CRLF1	HP:0001181	Adducted thumb
9244	CRLF1	HP:0001276	Hypertonia
9244	CRLF1	HP:0001250	Seizure
9244	CRLF1	HP:0001249	Intellectual disability
9244	CRLF1	HP:0031085	Decreased prealbumin level
9244	CRLF1	HP:0001377	Limited elbow extension
9244	CRLF1	HP:0001376	Limitation of joint mobility
9244	CRLF1	HP:0001371	Flexion contracture
9244	CRLF1	HP:0008872	Feeding difficulties in infancy
9244	CRLF1	HP:0000007	Autosomal recessive inheritance
9244	CRLF1	HP:0002650	Scoliosis
9244	CRLF1	HP:0000160	Narrow mouth
9244	CRLF1	HP:0002751	Kyphoscoliosis
9244	CRLF1	HP:0002020	Gastroesophageal reflux
9244	CRLF1	HP:0002015	Dysphagia
9244	CRLF1	HP:0100543	Cognitive impairment
9244	CRLF1	HP:0002094	Dyspnea
9244	CRLF1	HP:0002093	Respiratory insufficiency
9244	CRLF1	HP:0002047	Malignant hyperthermia
9244	CRLF1	HP:0009466	Radial deviation of finger
9244	CRLF1	HP:0002100	Recurrent aspiration pneumonia
9244	CRLF1	HP:0002179	Opisthotonus
9244	CRLF1	HP:0100490	Camptodactyly of finger
9244	CRLF1	HP:0100729	Large face
9244	CRLF1	HP:0100749	Chest pain
9244	CRLF1	HP:0011968	Feeding difficulties
9244	CRLF1	HP:0010628	Facial palsy
9244	CRLF1	HP:0004279	Short palm
9244	CRLF1	HP:0001954	Recurrent fever
9244	CRLF1	HP:0000670	Carious teeth
9244	CRLF1	HP:0004395	Malnutrition
9244	CRLF1	HP:0012735	Cough
9244	CRLF1	HP:0030828	Wheezing
9244	CRLF1	HP:0000975	Hyperhidrosis
9244	CRLF1	HP:0000966	Hypohidrosis
9244	CRLF1	HP:0000278	Retrognathia
9244	CRLF1	HP:0000293	Full cheeks
9244	CRLF1	HP:0002808	Kyphosis
9244	CRLF1	HP:0000218	High palate
9244	CRLF1	HP:0001522	Death in infancy
9244	CRLF1	HP:0000211	Trismus
9244	CRLF1	HP:0012385	Camptodactyly
9244	CRLF1	HP:0012387	Bronchitis
9244	CRLF1	HP:0000369	Low-set ears
9244	CRLF1	HP:0000343	Long philtrum
9244	CRLF1	HP:0000347	Micrognathia
9244	CRLF1	HP:0001645	Sudden cardiac death
9244	CRLF1	HP:0002987	Elbow flexion contracture
9244	CRLF1	HP:0005280	Depressed nasal bridge
9244	CRLF1	HP:0000491	Keratitis
9244	CRLF1	HP:0000463	Anteverted nares
9244	CRLF1	HP:0000470	Short neck
9244	CRLF1	HP:0001763	Pes planus
9244	CRLF1	HP:0000445	Wide nose
9244	CRLF1	HP:0001762	Talipes equinovarus
9244	CRLF1	HP:0001824	Weight loss
9247	GCM2	HP:0000083	Renal insufficiency
9247	GCM2	HP:0000007	Autosomal recessive inheritance
9247	GCM2	HP:0000006	Autosomal dominant inheritance
9247	GCM2	HP:0000121	Nephrocalcinosis
9247	GCM2	HP:0008198	Congenital hypoparathyroidism
9247	GCM2	HP:0002150	Hypercalciuria
9247	GCM2	HP:0002148	Hypophosphatemia
9247	GCM2	HP:0002199	Hypocalcemic seizures
9247	GCM2	HP:0008211	Parathyroid agenesis
9247	GCM2	HP:0008200	Primary hyperparathyroidism
9247	GCM2	HP:0003581	Adult onset
9247	GCM2	HP:0031817	Decreased circulating parathyroid hormone level
9247	GCM2	HP:0003072	Hypercalcemia
9247	GCM2	HP:0011458	Abdominal symptom
9247	GCM2	HP:0000787	Nephrolithiasis
9247	GCM2	HP:0003109	Hyperphosphaturia
9247	GCM2	HP:0003165	Elevated circulating parathyroid hormone level
9247	GCM2	HP:0003251	Male infertility
9247	GCM2	HP:0000938	Osteopenia
9247	GCM2	HP:0000934	Chondrocalcinosis
9247	GCM2	HP:0040160	Generalized osteoporosis
9247	GCM2	HP:0002897	Parathyroid adenoma
9247	GCM2	HP:0002917	Hypomagnesemia
9247	GCM2	HP:0002905	Hyperphosphatemia
9247	GCM2	HP:0002901	Hypocalcemia
9247	GCM2	HP:0006780	Parathyroid carcinoma
9254	CACNA2D2	HP:0001290	Generalized hypotonia
9254	CACNA2D2	HP:0001250	Seizure
9254	CACNA2D2	HP:0001251	Ataxia
9254	CACNA2D2	HP:0001260	Dysarthria
9254	CACNA2D2	HP:0002540	Inability to walk
9254	CACNA2D2	HP:0001344	Absent speech
9254	CACNA2D2	HP:0000007	Autosomal recessive inheritance
9254	CACNA2D2	HP:0001310	Dysmetria
9254	CACNA2D2	HP:0008936	Axial hypotonia
9254	CACNA2D2	HP:0002066	Gait ataxia
9254	CACNA2D2	HP:0002072	Chorea
9254	CACNA2D2	HP:0003593	Infantile onset
9254	CACNA2D2	HP:0200134	Epileptic encephalopathy
9254	CACNA2D2	HP:0003623	Neonatal onset
9254	CACNA2D2	HP:0006855	Cerebellar vermis atrophy
9254	CACNA2D2	HP:0000639	Nystagmus
9254	CACNA2D2	HP:0001999	Abnormal facial shape
9254	CACNA2D2	HP:0012736	Profound global developmental delay
9254	CACNA2D2	HP:0000486	Strabismus
9254	CACNA2D2	HP:0000496	Abnormality of eye movement
9255	AIMP1	HP:0007256	Abnormal pyramidal sign
9255	AIMP1	HP:0007210	Lower limb amyotrophy
9255	AIMP1	HP:0002415	Leukodystrophy
9255	AIMP1	HP:0002587	Projectile vomiting
9255	AIMP1	HP:0001250	Seizure
9255	AIMP1	HP:0001263	Global developmental delay
9255	AIMP1	HP:0007371	Corpus callosum atrophy
9255	AIMP1	HP:0001344	Absent speech
9255	AIMP1	HP:0000007	Autosomal recessive inheritance
9255	AIMP1	HP:0008936	Axial hypotonia
9255	AIMP1	HP:0002751	Kyphoscoliosis
9255	AIMP1	HP:0003593	Infantile onset
9255	AIMP1	HP:0002283	Global brain atrophy
9255	AIMP1	HP:0003676	Progressive
9255	AIMP1	HP:0002353	EEG abnormality
9255	AIMP1	HP:0002313	Spastic paraparesis
9255	AIMP1	HP:0000639	Nystagmus
9255	AIMP1	HP:0006918	Diffuse cerebral sclerosis
9255	AIMP1	HP:0034392	Joint contracture
9255	AIMP1	HP:0003269	Sudanophilic leukodystrophy
9255	AIMP1	HP:0034353	Appendicular spasticity
9255	AIMP1	HP:0000280	Coarse facial features
9255	AIMP1	HP:0000252	Microcephaly
9255	AIMP1	HP:0001522	Death in infancy
9255	AIMP1	HP:0001508	Failure to thrive
9255	AIMP1	HP:0001622	Premature birth
9255	AIMP1	HP:0030211	Slow pupillary light response
9255	AIMP1	HP:0000505	Visual impairment
9255	AIMP1	HP:0000577	Exotropia
9256	TSPOAP1	HP:0003785	Decreased CSF homovanillic acid concentration
9256	TSPOAP1	HP:0003781	Excessive salivation
9256	TSPOAP1	HP:0002451	Limb dystonia
9256	TSPOAP1	HP:0002448	Progressive encephalopathy
9256	TSPOAP1	HP:0007325	Generalized dystonia
9256	TSPOAP1	HP:0001290	Generalized hypotonia
9256	TSPOAP1	HP:0001270	Motor delay
9256	TSPOAP1	HP:0001254	Lethargy
9256	TSPOAP1	HP:0001256	Intellectual disability, mild
9256	TSPOAP1	HP:0001252	Hypotonia
9256	TSPOAP1	HP:0001251	Ataxia
9256	TSPOAP1	HP:0001348	Brisk reflexes
9256	TSPOAP1	HP:0001336	Myoclonus
9256	TSPOAP1	HP:0001300	Parkinsonism
9256	TSPOAP1	HP:0002019	Constipation
9256	TSPOAP1	HP:0002067	Bradykinesia
9256	TSPOAP1	HP:0002066	Gait ataxia
9256	TSPOAP1	HP:0002063	Rigidity
9256	TSPOAP1	HP:0002071	Abnormality of extrapyramidal motor function
9256	TSPOAP1	HP:0003487	Babinski sign
9256	TSPOAP1	HP:0002174	Postural tremor
9256	TSPOAP1	HP:0010553	Oculogyric crisis
9256	TSPOAP1	HP:0011968	Feeding difficulties
9256	TSPOAP1	HP:0002395	Lower limb hyperreflexia
9256	TSPOAP1	HP:0002375	Hypokinesia
9256	TSPOAP1	HP:0001945	Fever
9256	TSPOAP1	HP:0004373	Focal dystonia
9256	TSPOAP1	HP:0000737	Irritability
9256	TSPOAP1	HP:0000750	Delayed speech and language development
9256	TSPOAP1	HP:0030166	Night sweats
9256	TSPOAP1	HP:0001762	Talipes equinovarus
9256	TSPOAP1	HP:0001761	Pes cavus
9256	TSPOAP1	HP:0000508	Ptosis
9275	BCL7B	HP:0001181	Adducted thumb
9275	BCL7B	HP:0001136	Retinal arteriolar tortuosity
9275	BCL7B	HP:0010880	Increased nuchal translucency
9275	BCL7B	HP:0001297	Stroke
9275	BCL7B	HP:0100817	Renovascular hypertension
9275	BCL7B	HP:0001288	Gait disturbance
9275	BCL7B	HP:0001252	Hypotonia
9275	BCL7B	HP:0001251	Ataxia
9275	BCL7B	HP:0001249	Intellectual disability
9275	BCL7B	HP:0001260	Dysarthria
9275	BCL7B	HP:0001257	Spasticity
9275	BCL7B	HP:0001231	Abnormal fingernail morphology
9275	BCL7B	HP:0002575	Tracheoesophageal fistula
9275	BCL7B	HP:0008736	Hypoplasia of penis
9275	BCL7B	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
9275	BCL7B	HP:0008661	Urethral stenosis
9275	BCL7B	HP:0000089	Renal hypoplasia
9275	BCL7B	HP:0000083	Renal insufficiency
9275	BCL7B	HP:0000093	Proteinuria
9275	BCL7B	HP:0000076	Vesicoureteral reflux
9275	BCL7B	HP:0000075	Renal duplication
9275	BCL7B	HP:0000044	Hypogonadotropic hypogonadism
9275	BCL7B	HP:0001388	Joint laxity
9275	BCL7B	HP:0001387	Joint stiffness
9275	BCL7B	HP:0000023	Inguinal hernia
9275	BCL7B	HP:0000015	Bladder diverticulum
9275	BCL7B	HP:0000014	Abnormality of the bladder
9275	BCL7B	HP:0001347	Hyperreflexia
9275	BCL7B	HP:0001361	Nystagmus-induced head nodding
9275	BCL7B	HP:0000025	Functional abnormality of male internal genitalia
9275	BCL7B	HP:0000028	Cryptorchidism
9275	BCL7B	HP:0007495	Prematurely aged appearance
9275	BCL7B	HP:0007477	Abnormal dermatoglyphics
9275	BCL7B	HP:0000010	Recurrent urinary tract infections
9275	BCL7B	HP:0001337	Tremor
9275	BCL7B	HP:0001310	Dysmetria
9275	BCL7B	HP:0002637	Cerebral ischemia
9275	BCL7B	HP:0002650	Scoliosis
9275	BCL7B	HP:0002644	Abnormal pelvic girdle bone morphology
9275	BCL7B	HP:0002623	Overriding aorta
9275	BCL7B	HP:0000179	Thick lower lip vermilion
9275	BCL7B	HP:0000158	Macroglossia
9275	BCL7B	HP:0000154	Wide mouth
9275	BCL7B	HP:0000147	Polycystic ovaries
9275	BCL7B	HP:0000121	Nephrocalcinosis
9275	BCL7B	HP:0000125	Pelvic kidney
9275	BCL7B	HP:0002750	Delayed skeletal maturation
9275	BCL7B	HP:0002024	Malabsorption
9275	BCL7B	HP:0002020	Gastroesophageal reflux
9275	BCL7B	HP:0002019	Constipation
9275	BCL7B	HP:0002017	Nausea and vomiting
9275	BCL7B	HP:0002035	Rectal prolapse
9275	BCL7B	HP:0002027	Abdominal pain
9275	BCL7B	HP:0003312	Abnormal form of the vertebral bodies
9275	BCL7B	HP:0003307	Hyperlordosis
9275	BCL7B	HP:0005978	Type II diabetes mellitus
9275	BCL7B	HP:0100539	Periorbital edema
9275	BCL7B	HP:0100545	Arterial stenosis
9275	BCL7B	HP:0002071	Abnormality of extrapyramidal motor function
9275	BCL7B	HP:0002141	Gait imbalance
9275	BCL7B	HP:0002150	Hypercalciuria
9275	BCL7B	HP:0002120	Cerebral cortical atrophy
9275	BCL7B	HP:0003422	Vertebral segmentation defect
9275	BCL7B	HP:0002183	Phonophobia
9275	BCL7B	HP:0002167	Abnormality of speech or vocalization
9275	BCL7B	HP:0010526	Dysgraphia
9275	BCL7B	HP:0002253	Colonic diverticula
9275	BCL7B	HP:0002205	Recurrent respiratory infections
9275	BCL7B	HP:0100785	Insomnia
9275	BCL7B	HP:0010662	Abnormality of the diencephalon
9275	BCL7B	HP:0010669	Hypoplasia of the zygomatic bone
9275	BCL7B	HP:0007018	Attention deficit hyperactivity disorder
9275	BCL7B	HP:0001052	Nevus flammeus
9275	BCL7B	HP:0002376	Developmental regression
9275	BCL7B	HP:0200021	Down-sloping shoulders
9275	BCL7B	HP:0100659	Abnormal cerebral vascular morphology
9275	BCL7B	HP:0010807	Open bite
9275	BCL7B	HP:0100613	Death in early adulthood
9275	BCL7B	HP:0001081	Cholelithiasis
9275	BCL7B	HP:0008499	High hypermetropia
9275	BCL7B	HP:0010780	Hyperacusis
9275	BCL7B	HP:0002308	Chiari malformation
9275	BCL7B	HP:0004969	Peripheral pulmonary artery stenosis
9275	BCL7B	HP:0004209	Clinodactyly of the 5th finger
9275	BCL7B	HP:0004295	Abnormal gastric mucosa morphology
9275	BCL7B	HP:0005562	Multiple renal cysts
9275	BCL7B	HP:0001969	Abnormal tubulointerstitial morphology
9275	BCL7B	HP:0000635	Blue irides
9275	BCL7B	HP:0000632	Lacrimation abnormality
9275	BCL7B	HP:0000627	Posterior embryotoxon
9275	BCL7B	HP:0000682	Abnormal dental enamel morphology
9275	BCL7B	HP:0000691	Microdontia
9275	BCL7B	HP:0000689	Dental malocclusion
9275	BCL7B	HP:0000670	Carious teeth
9275	BCL7B	HP:0012639	Abnormal nervous system morphology
9275	BCL7B	HP:0000668	Hypodontia
9275	BCL7B	HP:0004322	Short stature
9275	BCL7B	HP:0004306	Abnormal endocardium morphology
9275	BCL7B	HP:0004305	Involuntary movements
9275	BCL7B	HP:0003072	Hypercalcemia
9275	BCL7B	HP:0004381	Supravalvular aortic stenosis
9275	BCL7B	HP:0004398	Peptic ulcer
9275	BCL7B	HP:0005692	Joint hyperflexibility
9275	BCL7B	HP:0003028	Abnormality of the ankle
9275	BCL7B	HP:0100025	Overfriendliness
9275	BCL7B	HP:0000767	Pectus excavatum
9275	BCL7B	HP:0000739	Anxiety
9275	BCL7B	HP:0000716	Depression
9275	BCL7B	HP:0000717	Autism
9275	BCL7B	HP:0000722	Compulsive behaviors
9275	BCL7B	HP:0000787	Nephrolithiasis
9275	BCL7B	HP:0003119	Abnormal circulating lipid concentration
9275	BCL7B	HP:0004428	Elfin facies
9275	BCL7B	HP:0003198	Myopathy
9275	BCL7B	HP:0003196	Short nose
9275	BCL7B	HP:0000826	Precocious puberty
9275	BCL7B	HP:0000822	Hypertension
9275	BCL7B	HP:0000821	Hypothyroidism
9275	BCL7B	HP:0003236	Elevated circulating creatine kinase concentration
9275	BCL7B	HP:0003298	Spina bifida occulta
9275	BCL7B	HP:0000960	Sacral dimple
9275	BCL7B	HP:0000939	Osteoporosis
9275	BCL7B	HP:0000938	Osteopenia
9275	BCL7B	HP:0100240	Synostosis of joints
9275	BCL7B	HP:0008053	Aplasia/Hypoplasia of the iris
9275	BCL7B	HP:0007720	Flat cornea
9275	BCL7B	HP:0000286	Epicanthus
9275	BCL7B	HP:0000280	Coarse facial features
9275	BCL7B	HP:0000275	Narrow face
9275	BCL7B	HP:0005113	Aortic arch aneurysm
9275	BCL7B	HP:0002829	Arthralgia
9275	BCL7B	HP:0002808	Kyphosis
9275	BCL7B	HP:0000252	Microcephaly
9275	BCL7B	HP:0001582	Redundant skin
9275	BCL7B	HP:0000212	Gingival overgrowth
9275	BCL7B	HP:0000232	Everted lower lip vermilion
9275	BCL7B	HP:0001531	Failure to thrive in infancy
9275	BCL7B	HP:0002857	Genu valgum
9275	BCL7B	HP:0001537	Umbilical hernia
9275	BCL7B	HP:0001513	Obesity
9275	BCL7B	HP:0000389	Chronic otitis media
9275	BCL7B	HP:0001609	Hoarse voice
9275	BCL7B	HP:0001608	Abnormality of the voice
9275	BCL7B	HP:0001618	Dysphonia
9275	BCL7B	HP:0006482	Abnormality of dental morphology
9275	BCL7B	HP:0000368	Low-set, posteriorly rotated ears
9275	BCL7B	HP:0001671	Abnormal cardiac septum morphology
9275	BCL7B	HP:0000343	Long philtrum
9275	BCL7B	HP:0011001	Increased bone mineral density
9275	BCL7B	HP:0000337	Broad forehead
9275	BCL7B	HP:0002999	Patellar dislocation
9275	BCL7B	HP:0000348	High forehead
9275	BCL7B	HP:0000347	Micrognathia
9275	BCL7B	HP:0001647	Bicuspid aortic valve
9275	BCL7B	HP:0001643	Patent ductus arteriosus
9275	BCL7B	HP:0001642	Pulmonic stenosis
9275	BCL7B	HP:0001645	Sudden cardiac death
9275	BCL7B	HP:0002974	Radioulnar synostosis
9275	BCL7B	HP:0001658	Myocardial infarction
9275	BCL7B	HP:0001653	Mitral regurgitation
9275	BCL7B	HP:0001629	Ventricular septal defect
9275	BCL7B	HP:0001626	Abnormality of the cardiovascular system
9275	BCL7B	HP:0001640	Cardiomegaly
9275	BCL7B	HP:0001639	Hypertrophic cardiomyopathy
9275	BCL7B	HP:0001636	Tetralogy of Fallot
9275	BCL7B	HP:0001635	Congestive heart failure
9275	BCL7B	HP:0000307	Pointed chin
9275	BCL7B	HP:0001631	Atrial septal defect
9275	BCL7B	HP:0001634	Mitral valve prolapse
9275	BCL7B	HP:0007957	Corneal opacity
9275	BCL7B	HP:0005344	Abnormal carotid artery morphology
9275	BCL7B	HP:0000407	Sensorineural hearing impairment
9275	BCL7B	HP:0000400	Macrotia
9275	BCL7B	HP:0000486	Strabismus
9275	BCL7B	HP:0000485	Megalocornea
9275	BCL7B	HP:0000464	Abnormality of the neck
9275	BCL7B	HP:0012433	Abnormal social behavior
9275	BCL7B	HP:0001763	Pes planus
9275	BCL7B	HP:0000411	Protruding ear
9275	BCL7B	HP:0000431	Wide nasal bridge
9275	BCL7B	HP:0000518	Cataract
9275	BCL7B	HP:0001822	Hallux valgus
9275	BCL7B	HP:0000505	Visual impairment
9275	BCL7B	HP:0000501	Glaucoma
9275	BCL7B	HP:0001800	Hypoplastic toenails
9275	BCL7B	HP:0000581	Blepharophimosis
9275	BCL7B	HP:0000545	Myopia
9276	COPB2	HP:0010864	Intellectual disability, severe
9276	COPB2	HP:0009879	Simplified gyral pattern
9276	COPB2	HP:0001274	Agenesis of corpus callosum
9276	COPB2	HP:0001250	Seizure
9276	COPB2	HP:0001249	Intellectual disability
9276	COPB2	HP:0001263	Global developmental delay
9276	COPB2	HP:0001257	Spasticity
9276	COPB2	HP:0007333	Hypoplasia of the frontal lobes
9276	COPB2	HP:0002540	Inability to walk
9276	COPB2	HP:0000076	Vesicoureteral reflux
9276	COPB2	HP:0001347	Hyperreflexia
9276	COPB2	HP:0000002	Abnormality of body height
9276	COPB2	HP:0033725	Thin corpus callosum
9276	COPB2	HP:0000007	Autosomal recessive inheritance
9276	COPB2	HP:0000006	Autosomal dominant inheritance
9276	COPB2	HP:0001302	Pachygyria
9276	COPB2	HP:0000122	Unilateral renal agenesis
9276	COPB2	HP:0002757	Recurrent fractures
9276	COPB2	HP:0002079	Hypoplasia of the corpus callosum
9276	COPB2	HP:0002119	Ventriculomegaly
9276	COPB2	HP:0002136	Broad-based gait
9276	COPB2	HP:0002188	Delayed CNS myelination
9276	COPB2	HP:0003593	Infantile onset
9276	COPB2	HP:0003577	Congenital onset
9276	COPB2	HP:0100704	Cerebral visual impairment
9276	COPB2	HP:0002282	Gray matter heterotopia
9276	COPB2	HP:0032046	Focal cortical dysplasia
9276	COPB2	HP:0003676	Progressive
9276	COPB2	HP:0011344	Severe global developmental delay
9276	COPB2	HP:0004325	Decreased body weight
9276	COPB2	HP:0004322	Short stature
9276	COPB2	HP:0011463	Childhood onset
9276	COPB2	HP:0003103	Abnormal cortical bone morphology
9276	COPB2	HP:0000938	Osteopenia
9276	COPB2	HP:0000252	Microcephaly
9276	COPB2	HP:0000219	Thin upper lip vermilion
9276	COPB2	HP:0001531	Failure to thrive in infancy
9276	COPB2	HP:0001510	Growth delay
9276	COPB2	HP:0000340	Sloping forehead
9276	COPB2	HP:0001622	Premature birth
9276	COPB2	HP:0000582	Upslanted palpebral fissure
9276	COPB2	HP:0012510	Extra-axial cerebrospinal fluid accumulation
9289	ADGRG1	HP:0100952	Enlarged sylvian cistern
9289	ADGRG1	HP:0002463	Language impairment
9289	ADGRG1	HP:0007301	Oromotor apraxia
9289	ADGRG1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
9289	ADGRG1	HP:0007266	Cerebral dysmyelination
9289	ADGRG1	HP:0007256	Abnormal pyramidal sign
9289	ADGRG1	HP:0010864	Intellectual disability, severe
9289	ADGRG1	HP:0001276	Hypertonia
9289	ADGRG1	HP:0001270	Motor delay
9289	ADGRG1	HP:0001250	Seizure
9289	ADGRG1	HP:0001249	Intellectual disability
9289	ADGRG1	HP:0001260	Dysarthria
9289	ADGRG1	HP:0001263	Global developmental delay
9289	ADGRG1	HP:0001257	Spasticity
9289	ADGRG1	HP:0007359	Focal-onset seizure
9289	ADGRG1	HP:0002539	Cortical dysplasia
9289	ADGRG1	HP:0002510	Spastic tetraplegia
9289	ADGRG1	HP:0002509	Limb hypertonia
9289	ADGRG1	HP:0001371	Flexion contracture
9289	ADGRG1	HP:0012015	EEG with frontal focal spikes
9289	ADGRG1	HP:0012017	EEG with parietal focal spikes
9289	ADGRG1	HP:0012014	EEG with central focal spikes
9289	ADGRG1	HP:0001349	Facial diplegia
9289	ADGRG1	HP:0001347	Hyperreflexia
9289	ADGRG1	HP:0410011	Abnormality of masticatory muscle
9289	ADGRG1	HP:0001328	Specific learning disability
9289	ADGRG1	HP:0032407	Bilateral perisylvian polymicrogyria
9289	ADGRG1	HP:0000007	Autosomal recessive inheritance
9289	ADGRG1	HP:0001310	Dysmetria
9289	ADGRG1	HP:0001320	Cerebellar vermis hypoplasia
9289	ADGRG1	HP:0001321	Cerebellar hypoplasia
9289	ADGRG1	HP:0001317	Abnormal cerebellum morphology
9289	ADGRG1	HP:0008947	Infantile muscular hypotonia
9289	ADGRG1	HP:0012110	Hypoplasia of the pons
9289	ADGRG1	HP:0002020	Gastroesophageal reflux
9289	ADGRG1	HP:0002015	Dysphagia
9289	ADGRG1	HP:0002061	Lower limb spasticity
9289	ADGRG1	HP:0002078	Truncal ataxia
9289	ADGRG1	HP:0011755	Ectopic posterior pituitary
9289	ADGRG1	HP:0002141	Gait imbalance
9289	ADGRG1	HP:0003487	Babinski sign
9289	ADGRG1	HP:0002123	Generalized myoclonic seizure
9289	ADGRG1	HP:0002119	Ventriculomegaly
9289	ADGRG1	HP:0002136	Broad-based gait
9289	ADGRG1	HP:0002104	Apnea
9289	ADGRG1	HP:0003593	Infantile onset
9289	ADGRG1	HP:0002269	Abnormality of neuronal migration
9289	ADGRG1	HP:0003577	Congenital onset
9289	ADGRG1	HP:0007033	Cerebellar dysplasia
9289	ADGRG1	HP:0007024	Pseudobulbar paralysis
9289	ADGRG1	HP:0011968	Feeding difficulties
9289	ADGRG1	HP:0002385	Paraparesis
9289	ADGRG1	HP:0002392	EEG with polyspike wave complexes
9289	ADGRG1	HP:0002365	Hypoplasia of the brainstem
9289	ADGRG1	HP:0010819	Atonic seizure
9289	ADGRG1	HP:0010808	Protruding tongue
9289	ADGRG1	HP:0002307	Drooling
9289	ADGRG1	HP:0020190	Perisylvian predominant thick cortex pachygyria
9289	ADGRG1	HP:0006821	Frontal polymicrogyria
9289	ADGRG1	HP:0000639	Nystagmus
9289	ADGRG1	HP:0012650	Perisylvian polymicrogyria
9289	ADGRG1	HP:0001999	Abnormal facial shape
9289	ADGRG1	HP:0005684	Distal arthrogryposis
9289	ADGRG1	HP:0000767	Pectus excavatum
9289	ADGRG1	HP:0000750	Delayed speech and language development
9289	ADGRG1	HP:0011448	Ankle clonus
9289	ADGRG1	HP:0040194	Increased head circumference
9289	ADGRG1	HP:0000252	Microcephaly
9289	ADGRG1	HP:0002835	Aspiration
9289	ADGRG1	HP:0001511	Intrauterine growth retardation
9289	ADGRG1	HP:0000365	Hearing impairment
9289	ADGRG1	HP:0000347	Micrognathia
9289	ADGRG1	HP:0011157	Focal sensory seizure
9289	ADGRG1	HP:0030319	Weakness of facial musculature
9289	ADGRG1	HP:0011147	Typical absence seizure
9289	ADGRG1	HP:0000486	Strabismus
9289	ADGRG1	HP:0012469	Infantile spasms
9289	ADGRG1	HP:0000453	Choanal atresia
9289	ADGRG1	HP:0000577	Exotropia
9289	ADGRG1	HP:0000565	Esotropia
9294	S1PR2	HP:0000007	Autosomal recessive inheritance
9294	S1PR2	HP:0003593	Infantile onset
9294	S1PR2	HP:0000407	Sensorineural hearing impairment
9313	MMP20	HP:0000007	Autosomal recessive inheritance
9313	MMP20	HP:0033786	Hypomature enamel
9313	MMP20	HP:0006286	Yellow-brown discoloration of the teeth
9313	MMP20	HP:0009102	Anterior open-bite malocclusion
9313	MMP20	HP:0000705	Amelogenesis imperfecta
9319	TRIP13	HP:0010880	Increased nuchal translucency
9319	TRIP13	HP:0001250	Seizure
9319	TRIP13	HP:0001252	Hypotonia
9319	TRIP13	HP:0001249	Intellectual disability
9319	TRIP13	HP:0001263	Global developmental delay
9319	TRIP13	HP:0007429	Few cafe-au-lait spots
9319	TRIP13	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9319	TRIP13	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9319	TRIP13	HP:0010978	Abnormality of immune system physiology
9319	TRIP13	HP:0000085	Horseshoe kidney
9319	TRIP13	HP:0000062	Ambiguous genitalia
9319	TRIP13	HP:0001360	Holoprosencephaly
9319	TRIP13	HP:0007565	Multiple cafe-au-lait spots
9319	TRIP13	HP:0002664	Neoplasm
9319	TRIP13	HP:0000007	Autosomal recessive inheritance
9319	TRIP13	HP:0002667	Nephroblastoma
9319	TRIP13	HP:0000003	Multicystic kidney dysplasia
9319	TRIP13	HP:0001305	Dandy-Walker malformation
9319	TRIP13	HP:0000175	Cleft palate
9319	TRIP13	HP:0000140	Abnormality of the menstrual cycle
9319	TRIP13	HP:0012126	Stomach cancer
9319	TRIP13	HP:0002797	Osteolysis
9319	TRIP13	HP:0002716	Lymphadenopathy
9319	TRIP13	HP:0002027	Abdominal pain
9319	TRIP13	HP:0002007	Frontal bossing
9319	TRIP13	HP:0100526	Neoplasm of the lung
9319	TRIP13	HP:0002119	Ventriculomegaly
9319	TRIP13	HP:0002101	Abnormal lung lobation
9319	TRIP13	HP:0002104	Apnea
9319	TRIP13	HP:0008222	Female infertility
9319	TRIP13	HP:0003593	Infantile onset
9319	TRIP13	HP:0002247	Duodenal atresia
9319	TRIP13	HP:0003560	Muscular dystrophy
9319	TRIP13	HP:0033336	Zygotic cleavage failure
9319	TRIP13	HP:0001000	Abnormality of skin pigmentation
9319	TRIP13	HP:0100650	Vaginal neoplasm
9319	TRIP13	HP:0200024	Premature chromatid separation
9319	TRIP13	HP:0200008	Intestinal polyposis
9319	TRIP13	HP:0004209	Clinodactyly of the 5th finger
9319	TRIP13	HP:0000639	Nystagmus
9319	TRIP13	HP:0001945	Fever
9319	TRIP13	HP:0004322	Short stature
9319	TRIP13	HP:0003003	Colon cancer
9319	TRIP13	HP:0030680	Abnormality of cardiovascular system morphology
9319	TRIP13	HP:0011463	Childhood onset
9319	TRIP13	HP:0000790	Hematuria
9319	TRIP13	HP:0000929	Abnormal skull morphology
9319	TRIP13	HP:0000924	Abnormality of the skeletal system
9319	TRIP13	HP:0000822	Hypertension
9319	TRIP13	HP:0000821	Hypothyroidism
9319	TRIP13	HP:0000286	Epicanthus
9319	TRIP13	HP:0002817	Abnormality of the upper limb
9319	TRIP13	HP:0002804	Arthrogryposis multiplex congenita
9319	TRIP13	HP:0002896	Neoplasm of the liver
9319	TRIP13	HP:0000252	Microcephaly
9319	TRIP13	HP:0001561	Polyhydramnios
9319	TRIP13	HP:0002859	Rhabdomyosarcoma
9319	TRIP13	HP:0001541	Ascites
9319	TRIP13	HP:0002863	Myelodysplasia
9319	TRIP13	HP:0001511	Intrauterine growth retardation
9319	TRIP13	HP:0001510	Growth delay
9319	TRIP13	HP:0031516	Oocyte arrest at metaphase I
9319	TRIP13	HP:0000365	Hearing impairment
9319	TRIP13	HP:0000369	Low-set ears
9319	TRIP13	HP:0000368	Low-set, posteriorly rotated ears
9319	TRIP13	HP:0000340	Sloping forehead
9319	TRIP13	HP:0001682	Subvalvular aortic stenosis
9319	TRIP13	HP:0001680	Coarctation of aorta
9319	TRIP13	HP:0001679	Abnormal aortic morphology
9319	TRIP13	HP:0000348	High forehead
9319	TRIP13	HP:0000347	Micrognathia
9319	TRIP13	HP:0001659	Aortic regurgitation
9319	TRIP13	HP:0000325	Triangular face
9319	TRIP13	HP:0001631	Atrial septal defect
9319	TRIP13	HP:0007957	Corneal opacity
9319	TRIP13	HP:0000478	Abnormality of the eye
9319	TRIP13	HP:0000494	Downslanted palpebral fissures
9319	TRIP13	HP:0000490	Deeply set eye
9319	TRIP13	HP:0000457	Depressed nasal ridge
9319	TRIP13	HP:0000444	Convex nasal ridge
9319	TRIP13	HP:0000445	Wide nose
9319	TRIP13	HP:0006721	Acute lymphoblastic leukemia
9319	TRIP13	HP:0000518	Cataract
9319	TRIP13	HP:0000510	Rod-cone dystrophy
9319	TRIP13	HP:0000526	Aniridia
9319	TRIP13	HP:0001824	Weight loss
9319	TRIP13	HP:0000504	Abnormality of vision
9319	TRIP13	HP:0000501	Glaucoma
9319	TRIP13	HP:0000568	Microphthalmia
9320	TRIP12	HP:0001270	Motor delay
9320	TRIP12	HP:0001250	Seizure
9320	TRIP12	HP:0001252	Hypotonia
9320	TRIP12	HP:0001249	Intellectual disability
9320	TRIP12	HP:0001263	Global developmental delay
9320	TRIP12	HP:0000006	Autosomal dominant inheritance
9320	TRIP12	HP:0000154	Wide mouth
9320	TRIP12	HP:0002714	Downturned corners of mouth
9320	TRIP12	HP:0002263	Exaggerated cupid's bow
9320	TRIP12	HP:0009748	Large earlobe
9320	TRIP12	HP:0009765	Low hanging columella
9320	TRIP12	HP:0000752	Hyperactivity
9320	TRIP12	HP:0000739	Anxiety
9320	TRIP12	HP:0000750	Delayed speech and language development
9320	TRIP12	HP:0000718	Aggressive behavior
9320	TRIP12	HP:0000729	Autistic behavior
9320	TRIP12	HP:0003196	Short nose
9320	TRIP12	HP:0045025	Narrow palpebral fissure
9320	TRIP12	HP:0000286	Epicanthus
9320	TRIP12	HP:0000268	Dolichocephaly
9320	TRIP12	HP:0030084	Clinodactyly
9320	TRIP12	HP:0000252	Microcephaly
9320	TRIP12	HP:0000248	Brachycephaly
9320	TRIP12	HP:0000219	Thin upper lip vermilion
9320	TRIP12	HP:0000218	High palate
9320	TRIP12	HP:0001513	Obesity
9320	TRIP12	HP:0000369	Low-set ears
9320	TRIP12	HP:0000340	Sloping forehead
9320	TRIP12	HP:0000343	Long philtrum
9320	TRIP12	HP:0000319	Smooth philtrum
9320	TRIP12	HP:0000316	Hypertelorism
9320	TRIP12	HP:0000322	Short philtrum
9320	TRIP12	HP:0000307	Pointed chin
9320	TRIP12	HP:0005280	Depressed nasal bridge
9320	TRIP12	HP:0000486	Strabismus
9320	TRIP12	HP:0000463	Anteverted nares
9320	TRIP12	HP:0001852	Sandal gap
9320	TRIP12	HP:0000582	Upslanted palpebral fissure
9321	TRIP11	HP:0001156	Brachydactyly
9321	TRIP11	HP:0010963	Absence of stomach bubble on fetal sonography
9321	TRIP11	HP:0010880	Increased nuchal translucency
9321	TRIP11	HP:0001270	Motor delay
9321	TRIP11	HP:0001216	Delayed ossification of carpal bones
9321	TRIP11	HP:0003826	Stillbirth
9321	TRIP11	HP:0000090	Nephronophthisis
9321	TRIP11	HP:0001382	Joint hypermobility
9321	TRIP11	HP:0008845	Mesomelic short stature
9321	TRIP11	HP:0002657	Spondylometaphyseal dysplasia
9321	TRIP11	HP:0002673	Coxa valga
9321	TRIP11	HP:0000007	Autosomal recessive inheritance
9321	TRIP11	HP:0002650	Scoliosis
9321	TRIP11	HP:0000113	Polycystic kidney dysplasia
9321	TRIP11	HP:0002757	Recurrent fractures
9321	TRIP11	HP:0002007	Frontal bossing
9321	TRIP11	HP:0003336	Abnormal enchondral ossification
9321	TRIP11	HP:0004625	Biconvex vertebral bodies
9321	TRIP11	HP:0100541	Femoral hernia
9321	TRIP11	HP:0002089	Pulmonary hypoplasia
9321	TRIP11	HP:0002098	Respiratory distress
9321	TRIP11	HP:0004606	Unossified vertebral bodies
9321	TRIP11	HP:0003417	Coronal cleft vertebrae
9321	TRIP11	HP:0010585	Small epiphyses
9321	TRIP11	HP:0010579	Cone-shaped epiphysis
9321	TRIP11	HP:0010582	Irregular epiphyses
9321	TRIP11	HP:0002205	Recurrent respiratory infections
9321	TRIP11	HP:0010675	Abnormal foot bone ossification
9321	TRIP11	HP:0200083	Severe limb shortening
9321	TRIP11	HP:0010660	Abnormal hand bone ossification
9321	TRIP11	HP:0003510	Severe short stature
9321	TRIP11	HP:0003521	Disproportionate short-trunk short stature
9321	TRIP11	HP:0010808	Protruding tongue
9321	TRIP11	HP:0009803	Short phalanx of finger
9321	TRIP11	HP:0004279	Short palm
9321	TRIP11	HP:0010049	Short metacarpal
9321	TRIP11	HP:0000684	Delayed eruption of teeth
9321	TRIP11	HP:0004322	Short stature
9321	TRIP11	HP:0004331	Decreased skull ossification
9321	TRIP11	HP:0030680	Abnormality of cardiovascular system morphology
9321	TRIP11	HP:0005692	Joint hyperflexibility
9321	TRIP11	HP:0034198	Second trimester onset
9321	TRIP11	HP:0003016	Metaphyseal widening
9321	TRIP11	HP:0003026	Short long bone
9321	TRIP11	HP:0003027	Mesomelia
9321	TRIP11	HP:0003021	Metaphyseal cupping
9321	TRIP11	HP:0000768	Pectus carinatum
9321	TRIP11	HP:0000703	Dentinogenesis imperfecta
9321	TRIP11	HP:0000774	Narrow chest
9321	TRIP11	HP:0000773	Short ribs
9321	TRIP11	HP:0005716	Lethal skeletal dysplasia
9321	TRIP11	HP:0003196	Short nose
9321	TRIP11	HP:0000916	Broad clavicles
9321	TRIP11	HP:0000926	Platyspondyly
9321	TRIP11	HP:0000923	Beaded ribs
9321	TRIP11	HP:0003175	Hypoplastic ischia
9321	TRIP11	HP:0003180	Flat acetabular roof
9321	TRIP11	HP:0000904	Flaring of rib cage
9321	TRIP11	HP:0004482	Relative macrocephaly
9321	TRIP11	HP:0000882	Hypoplastic scapulae
9321	TRIP11	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
9321	TRIP11	HP:0000894	Short clavicles
9321	TRIP11	HP:0003278	Square pelvis bone
9321	TRIP11	HP:0003270	Abdominal distention
9321	TRIP11	HP:0004590	Hypoplastic sacrum
9321	TRIP11	HP:0010306	Short thorax
9321	TRIP11	HP:0000939	Osteoporosis
9321	TRIP11	HP:0000944	Abnormal metaphysis morphology
9321	TRIP11	HP:0000278	Retrognathia
9321	TRIP11	HP:0001591	Bell-shaped thorax
9321	TRIP11	HP:0000262	Turricephaly
9321	TRIP11	HP:0000256	Macrocephaly
9321	TRIP11	HP:0000275	Narrow face
9321	TRIP11	HP:0002816	Genu recurvatum
9321	TRIP11	HP:0001552	Barrel-shaped chest
9321	TRIP11	HP:0001561	Polyhydramnios
9321	TRIP11	HP:0001522	Death in infancy
9321	TRIP11	HP:0002869	Flared iliac wing
9321	TRIP11	HP:0001537	Umbilical hernia
9321	TRIP11	HP:0001538	Protuberant abdomen
9321	TRIP11	HP:0012368	Flat face
9321	TRIP11	HP:0006487	Bowing of the long bones
9321	TRIP11	HP:0006488	Bowing of the arm
9321	TRIP11	HP:0006489	Abnormal femoral metaphysis morphology
9321	TRIP11	HP:0000369	Low-set ears
9321	TRIP11	HP:0000343	Long philtrum
9321	TRIP11	HP:0000347	Micrognathia
9321	TRIP11	HP:0002983	Micromelia
9321	TRIP11	HP:0002979	Bowing of the legs
9321	TRIP11	HP:0001643	Patent ductus arteriosus
9321	TRIP11	HP:0002984	Hypoplasia of the radius
9321	TRIP11	HP:0002970	Genu varum
9321	TRIP11	HP:0006640	Multiple rib fractures
9321	TRIP11	HP:0005281	Hypoplastic nasal bridge
9321	TRIP11	HP:0005280	Depressed nasal bridge
9321	TRIP11	HP:0000486	Strabismus
9321	TRIP11	HP:0000476	Cystic hygroma
9321	TRIP11	HP:0000463	Anteverted nares
9321	TRIP11	HP:0001789	Hydrops fetalis
9321	TRIP11	HP:0000474	Thickened nuchal skin fold
9321	TRIP11	HP:0000470	Short neck
9321	TRIP11	HP:0001773	Short foot
9321	TRIP11	HP:0001762	Talipes equinovarus
9321	TRIP11	HP:0006703	Aplasia/Hypoplasia of the lungs
9321	TRIP11	HP:0011220	Prominent forehead
9325	TRIP4	HP:0003789	Minicore myopathy
9325	TRIP4	HP:0007269	Spinal muscular atrophy
9325	TRIP4	HP:0002421	Poor head control
9325	TRIP4	HP:0003700	Generalized amyotrophy
9325	TRIP4	HP:0001290	Generalized hypotonia
9325	TRIP4	HP:0001270	Motor delay
9325	TRIP4	HP:0001284	Areflexia
9325	TRIP4	HP:0001263	Global developmental delay
9325	TRIP4	HP:0001371	Flexion contracture
9325	TRIP4	HP:0001388	Joint laxity
9325	TRIP4	HP:0000028	Cryptorchidism
9325	TRIP4	HP:0007502	Follicular hyperkeratosis
9325	TRIP4	HP:0001324	Muscle weakness
9325	TRIP4	HP:0000007	Autosomal recessive inheritance
9325	TRIP4	HP:0002650	Scoliosis
9325	TRIP4	HP:0002643	Neonatal respiratory distress
9325	TRIP4	HP:0000160	Narrow mouth
9325	TRIP4	HP:0002747	Respiratory insufficiency due to muscle weakness
9325	TRIP4	HP:0002020	Gastroesophageal reflux
9325	TRIP4	HP:0002015	Dysphagia
9325	TRIP4	HP:0003306	Spinal rigidity
9325	TRIP4	HP:0002089	Pulmonary hypoplasia
9325	TRIP4	HP:0008180	Mildly elevated creatine kinase
9325	TRIP4	HP:0003477	Peripheral axonal neuropathy
9325	TRIP4	HP:0003447	Axonal loss
9325	TRIP4	HP:0003458	EMG: myopathic abnormalities
9325	TRIP4	HP:0003577	Congenital onset
9325	TRIP4	HP:0003560	Muscular dystrophy
9325	TRIP4	HP:0003557	Increased variability in muscle fiber diameter
9325	TRIP4	HP:0002205	Recurrent respiratory infections
9325	TRIP4	HP:0010647	Abnormal elasticity of skin
9325	TRIP4	HP:0011968	Feeding difficulties
9325	TRIP4	HP:0003690	Limb muscle weakness
9325	TRIP4	HP:0003687	Centrally nucleated skeletal muscle fibers
9325	TRIP4	HP:0006829	Severe muscular hypotonia
9325	TRIP4	HP:0000767	Pectus excavatum
9325	TRIP4	HP:0000750	Delayed speech and language development
9325	TRIP4	HP:0011471	Gastrostomy tube feeding in infancy
9325	TRIP4	HP:0009110	Diaphragmatic eventration
9325	TRIP4	HP:0000823	Delayed puberty
9325	TRIP4	HP:0005855	Multiple prenatal fractures
9325	TRIP4	HP:0000958	Dry skin
9325	TRIP4	HP:0000966	Hypohidrosis
9325	TRIP4	HP:0008081	Pes valgus
9325	TRIP4	HP:0100295	Muscle fiber atrophy
9325	TRIP4	HP:0002828	Multiple joint contractures
9325	TRIP4	HP:0002804	Arthrogryposis multiplex congenita
9325	TRIP4	HP:0000218	High palate
9325	TRIP4	HP:0001562	Oligohydramnios
9325	TRIP4	HP:0001558	Decreased fetal movement
9325	TRIP4	HP:0025502	Overweight
9325	TRIP4	HP:0001612	Weak cry
9325	TRIP4	HP:0001684	Secundum atrial septal defect
9325	TRIP4	HP:0000316	Hypertelorism
9325	TRIP4	HP:0001643	Patent ductus arteriosus
9325	TRIP4	HP:0001655	Patent foramen ovale
9325	TRIP4	HP:0001622	Premature birth
9325	TRIP4	HP:0000308	Microretrognathia
9325	TRIP4	HP:0001635	Congestive heart failure
9325	TRIP4	HP:0001638	Cardiomyopathy
9325	TRIP4	HP:0000467	Neck muscle weakness
9326	ZNHIT3	HP:0001182	Tapered finger
9326	ZNHIT3	HP:0007281	Developmental stagnation
9326	ZNHIT3	HP:0008572	External ear malformation
9326	ZNHIT3	HP:0010864	Intellectual disability, severe
9326	ZNHIT3	HP:0001290	Generalized hypotonia
9326	ZNHIT3	HP:0001272	Cerebellar atrophy
9326	ZNHIT3	HP:0001250	Seizure
9326	ZNHIT3	HP:0001263	Global developmental delay
9326	ZNHIT3	HP:0007366	Atrophy/Degeneration affecting the brainstem
9326	ZNHIT3	HP:0002521	Hypsarrhythmia
9326	ZNHIT3	HP:0002529	Neuronal loss in central nervous system
9326	ZNHIT3	HP:0001376	Limitation of joint mobility
9326	ZNHIT3	HP:0001371	Flexion contracture
9326	ZNHIT3	HP:0001347	Hyperreflexia
9326	ZNHIT3	HP:0008872	Feeding difficulties in infancy
9326	ZNHIT3	HP:0007514	Edema of the dorsum of hands
9326	ZNHIT3	HP:0012098	Edema of the dorsum of feet
9326	ZNHIT3	HP:0000007	Autosomal recessive inheritance
9326	ZNHIT3	HP:0001336	Myoclonus
9326	ZNHIT3	HP:0001302	Pachygyria
9326	ZNHIT3	HP:0000194	Open mouth
9326	ZNHIT3	HP:0000177	Abnormal upper lip morphology
9326	ZNHIT3	HP:0000174	Abnormal palate morphology
9326	ZNHIT3	HP:0011800	Midface retrusion
9326	ZNHIT3	HP:0100540	Palpebral edema
9326	ZNHIT3	HP:0002079	Hypoplasia of the corpus callosum
9326	ZNHIT3	HP:0003469	Peripheral dysmyelination
9326	ZNHIT3	HP:0002120	Cerebral cortical atrophy
9326	ZNHIT3	HP:0002119	Ventriculomegaly
9326	ZNHIT3	HP:0002132	Porencephalic cyst
9326	ZNHIT3	HP:0002126	Polymicrogyria
9326	ZNHIT3	HP:0002187	Intellectual disability, profound
9326	ZNHIT3	HP:0002205	Recurrent respiratory infections
9326	ZNHIT3	HP:0011968	Feeding difficulties
9326	ZNHIT3	HP:0002353	EEG abnormality
9326	ZNHIT3	HP:0002329	Drowsiness
9326	ZNHIT3	HP:0010804	Tented upper lip vermilion
9326	ZNHIT3	HP:0010741	Pedal edema
9326	ZNHIT3	HP:0007105	Infantile encephalopathy
9326	ZNHIT3	HP:0006829	Severe muscular hypotonia
9326	ZNHIT3	HP:0000648	Optic atrophy
9326	ZNHIT3	HP:0100022	Abnormality of movement
9326	ZNHIT3	HP:0004422	Biparietal narrowing
9326	ZNHIT3	HP:0003196	Short nose
9326	ZNHIT3	HP:0000969	Edema
9326	ZNHIT3	HP:0000286	Epicanthus
9326	ZNHIT3	HP:0000278	Retrognathia
9326	ZNHIT3	HP:0000293	Full cheeks
9326	ZNHIT3	HP:0000272	Malar flattening
9326	ZNHIT3	HP:0002804	Arthrogryposis multiplex congenita
9326	ZNHIT3	HP:0000238	Hydrocephalus
9326	ZNHIT3	HP:0000253	Progressive microcephaly
9326	ZNHIT3	HP:0000252	Microcephaly
9326	ZNHIT3	HP:0000212	Gingival overgrowth
9326	ZNHIT3	HP:0012398	Peripheral edema
9326	ZNHIT3	HP:0000341	Narrow forehead
9326	ZNHIT3	HP:0007965	Undetectable visual evoked potentials
9326	ZNHIT3	HP:0000400	Macrotia
9326	ZNHIT3	HP:0012469	Infantile spasms
9326	ZNHIT3	HP:0000496	Abnormality of eye movement
9326	ZNHIT3	HP:0000463	Anteverted nares
9326	ZNHIT3	HP:0000572	Visual loss
9333	TGM5	HP:0000007	Autosomal recessive inheritance
9333	TGM5	HP:0007605	Excessive wrinkling of palmar skin
9333	TGM5	HP:0200034	Papule
9333	TGM5	HP:0200041	Skin erosion
9333	TGM5	HP:0008499	High hypermetropia
9333	TGM5	HP:0010783	Erythema
9333	TGM5	HP:0012733	Macule
9333	TGM5	HP:0000953	Hyperpigmentation of the skin
9333	TGM5	HP:0000964	Eczema
9333	TGM5	HP:0008064	Ichthyosis
9333	TGM5	HP:0008066	Abnormal blistering of the skin
9333	TGM5	HP:0040189	Scaling skin
9333	TGM5	HP:0001597	Abnormality of the nail
9333	TGM5	HP:0012393	Allergy
9342	SNAP29	HP:0010864	Intellectual disability, severe
9342	SNAP29	HP:0002421	Poor head control
9342	SNAP29	HP:0001297	Stroke
9342	SNAP29	HP:0001271	Polyneuropathy
9342	SNAP29	HP:0001273	Abnormal corpus callosum morphology
9342	SNAP29	HP:0001284	Areflexia
9342	SNAP29	HP:0001250	Seizure
9342	SNAP29	HP:0001252	Hypotonia
9342	SNAP29	HP:0001251	Ataxia
9342	SNAP29	HP:0001249	Intellectual disability
9342	SNAP29	HP:0001263	Global developmental delay
9342	SNAP29	HP:0007447	Diffuse palmoplantar hyperkeratosis
9342	SNAP29	HP:0002539	Cortical dysplasia
9342	SNAP29	HP:0003819	Death in childhood
9342	SNAP29	HP:0000093	Proteinuria
9342	SNAP29	HP:0000007	Autosomal recessive inheritance
9342	SNAP29	HP:0001302	Pachygyria
9342	SNAP29	HP:0000164	Abnormality of the dentition
9342	SNAP29	HP:0000135	Hypogonadism
9342	SNAP29	HP:0000100	Nephrotic syndrome
9342	SNAP29	HP:0002126	Polymicrogyria
9342	SNAP29	HP:0003593	Infantile onset
9342	SNAP29	HP:0011951	Aspiration pneumonia
9342	SNAP29	HP:0009830	Peripheral neuropathy
9342	SNAP29	HP:0006887	Intellectual disability, progressive
9342	SNAP29	HP:0000648	Optic atrophy
9342	SNAP29	HP:0004322	Short stature
9342	SNAP29	HP:0003134	Abnormality of peripheral nerve conduction
9342	SNAP29	HP:0000982	Palmoplantar keratoderma
9342	SNAP29	HP:0008064	Ichthyosis
9342	SNAP29	HP:0000276	Long face
9342	SNAP29	HP:0000268	Dolichocephaly
9342	SNAP29	HP:0007766	Optic disc hypoplasia
9342	SNAP29	HP:0000253	Progressive microcephaly
9342	SNAP29	HP:0000252	Microcephaly
9342	SNAP29	HP:0001508	Failure to thrive
9342	SNAP29	HP:0000316	Hypertelorism
9342	SNAP29	HP:0001635	Congestive heart failure
9342	SNAP29	HP:0000407	Sensorineural hearing impairment
9342	SNAP29	HP:0000400	Macrotia
9342	SNAP29	HP:0005280	Depressed nasal bridge
9342	SNAP29	HP:0000478	Abnormality of the eye
9342	SNAP29	HP:0000494	Downslanted palpebral fissures
9342	SNAP29	HP:0000496	Abnormality of eye movement
9342	SNAP29	HP:0000457	Depressed nasal ridge
9342	SNAP29	HP:0000431	Wide nasal bridge
9342	SNAP29	HP:0000426	Prominent nasal bridge
9342	SNAP29	HP:0000504	Abnormality of vision
9343	EFTUD2	HP:0001177	Preaxial hand polydactyly
9343	EFTUD2	HP:0008609	Morphological abnormality of the middle ear
9343	EFTUD2	HP:0008551	Microtia
9343	EFTUD2	HP:0001250	Seizure
9343	EFTUD2	HP:0001249	Intellectual disability
9343	EFTUD2	HP:0001263	Global developmental delay
9343	EFTUD2	HP:0001238	Slender finger
9343	EFTUD2	HP:0008872	Feeding difficulties in infancy
9343	EFTUD2	HP:0000006	Autosomal dominant inheritance
9343	EFTUD2	HP:0000191	Accessory oral frenulum
9343	EFTUD2	HP:0000175	Cleft palate
9343	EFTUD2	HP:0002032	Esophageal atresia
9343	EFTUD2	HP:0002002	Deep philtrum
9343	EFTUD2	HP:0011800	Midface retrusion
9343	EFTUD2	HP:0002098	Respiratory distress
9343	EFTUD2	HP:0009623	Proximal placement of thumb
9343	EFTUD2	HP:0009738	Abnormal antihelix morphology
9343	EFTUD2	HP:0009748	Large earlobe
9343	EFTUD2	HP:0011968	Feeding difficulties
9343	EFTUD2	HP:0004322	Short stature
9343	EFTUD2	HP:0000750	Delayed speech and language development
9343	EFTUD2	HP:0003196	Short nose
9343	EFTUD2	HP:0000286	Epicanthus
9343	EFTUD2	HP:0000272	Malar flattening
9343	EFTUD2	HP:0000243	Trigonocephaly
9343	EFTUD2	HP:0000253	Progressive microcephaly
9343	EFTUD2	HP:0000252	Microcephaly
9343	EFTUD2	HP:0000384	Preauricular skin tag
9343	EFTUD2	HP:0000396	Overfolded helix
9343	EFTUD2	HP:0000356	Abnormality of the outer ear
9343	EFTUD2	HP:0000369	Low-set ears
9343	EFTUD2	HP:0000347	Micrognathia
9343	EFTUD2	HP:0000327	Hypoplasia of the maxilla
9343	EFTUD2	HP:0001629	Ventricular septal defect
9343	EFTUD2	HP:0001631	Atrial septal defect
9343	EFTUD2	HP:0005321	Mandibulofacial dysostosis
9343	EFTUD2	HP:0000405	Conductive hearing impairment
9343	EFTUD2	HP:0000494	Downslanted palpebral fissures
9343	EFTUD2	HP:0000463	Anteverted nares
9343	EFTUD2	HP:0000453	Choanal atresia
9343	EFTUD2	HP:0000413	Atresia of the external auditory canal
9343	EFTUD2	HP:0011268	Absent tragus
9343	EFTUD2	HP:0011272	Underdeveloped tragus
9343	EFTUD2	HP:0005484	Secondary microcephaly
9343	EFTUD2	HP:0000506	Telecanthus
9343	EFTUD2	HP:0000582	Upslanted palpebral fissure
9354	UBE4A	HP:0010864	Intellectual disability, severe
9354	UBE4A	HP:0001252	Hypotonia
9354	UBE4A	HP:0002540	Inability to walk
9354	UBE4A	HP:0000007	Autosomal recessive inheritance
9354	UBE4A	HP:0002069	Bilateral tonic-clonic seizure
9354	UBE4A	HP:0002061	Lower limb spasticity
9354	UBE4A	HP:0007018	Attention deficit hyperactivity disorder
9354	UBE4A	HP:0004322	Short stature
9354	UBE4A	HP:0000750	Delayed speech and language development
9354	UBE4A	HP:0000718	Aggressive behavior
9354	UBE4A	HP:0000729	Autistic behavior
9361	LONP1	HP:0009901	Crumpled ear
9361	LONP1	HP:0001156	Brachydactyly
9361	LONP1	HP:0002490	Increased CSF lactate
9361	LONP1	HP:0001290	Generalized hypotonia
9361	LONP1	HP:0001274	Agenesis of corpus callosum
9361	LONP1	HP:0001270	Motor delay
9361	LONP1	HP:0001250	Seizure
9361	LONP1	HP:0001252	Hypotonia
9361	LONP1	HP:0001251	Ataxia
9361	LONP1	HP:0001249	Intellectual disability
9361	LONP1	HP:0001263	Global developmental delay
9361	LONP1	HP:0002566	Intestinal malrotation
9361	LONP1	HP:0002540	Inability to walk
9361	LONP1	HP:0001216	Delayed ossification of carpal bones
9361	LONP1	HP:0002521	Hypsarrhythmia
9361	LONP1	HP:0500231	Abnormal CSF pyruvate family amino acid concentration
9361	LONP1	HP:0025361	Abnormality of medullary pyramid morphology
9361	LONP1	HP:0000072	Hydroureter
9361	LONP1	HP:0001374	Congenital hip dislocation
9361	LONP1	HP:0001371	Flexion contracture
9361	LONP1	HP:0002682	Broad skull
9361	LONP1	HP:0000028	Cryptorchidism
9361	LONP1	HP:0001332	Dystonia
9361	LONP1	HP:0001338	Partial agenesis of the corpus callosum
9361	LONP1	HP:0000007	Autosomal recessive inheritance
9361	LONP1	HP:0002650	Scoliosis
9361	LONP1	HP:0002643	Neonatal respiratory distress
9361	LONP1	HP:0002644	Abnormal pelvic girdle bone morphology
9361	LONP1	HP:0000143	Rectovaginal fistula
9361	LONP1	HP:0012128	Basal ganglia necrosis
9361	LONP1	HP:0006297	Enamel hypoplasia
9361	LONP1	HP:0002761	Generalized joint laxity
9361	LONP1	HP:0002750	Delayed skeletal maturation
9361	LONP1	HP:0002719	Recurrent infections
9361	LONP1	HP:0002023	Anal atresia
9361	LONP1	HP:0002020	Gastroesophageal reflux
9361	LONP1	HP:0003312	Abnormal form of the vertebral bodies
9361	LONP1	HP:0003311	Hypoplasia of the odontoid process
9361	LONP1	HP:0004626	Lumbar scoliosis
9361	LONP1	HP:0002089	Pulmonary hypoplasia
9361	LONP1	HP:0030917	Low APGAR score
9361	LONP1	HP:0002098	Respiratory distress
9361	LONP1	HP:0002069	Bilateral tonic-clonic seizure
9361	LONP1	HP:0002079	Hypoplasia of the corpus callosum
9361	LONP1	HP:0002059	Cerebral atrophy
9361	LONP1	HP:0005930	Abnormal epiphysis morphology
9361	LONP1	HP:0002151	Increased serum lactate
9361	LONP1	HP:0002119	Ventriculomegaly
9361	LONP1	HP:0002126	Polymicrogyria
9361	LONP1	HP:0002100	Recurrent aspiration pneumonia
9361	LONP1	HP:0003417	Coronal cleft vertebrae
9361	LONP1	HP:0009623	Proximal placement of thumb
9361	LONP1	HP:0002187	Intellectual disability, profound
9361	LONP1	HP:0002171	Gliosis
9361	LONP1	HP:0010577	Absent epiphyses
9361	LONP1	HP:0010576	Intracranial cystic lesion
9361	LONP1	HP:0003542	Increased serum pyruvate
9361	LONP1	HP:0011968	Feeding difficulties
9361	LONP1	HP:0002350	Cerebellar cyst
9361	LONP1	HP:0002329	Drowsiness
9361	LONP1	HP:0009826	Limb undergrowth
9361	LONP1	HP:0009803	Short phalanx of finger
9361	LONP1	HP:0004902	Congenital lactic acidosis
9361	LONP1	HP:0000639	Nystagmus
9361	LONP1	HP:0000618	Blindness
9361	LONP1	HP:0010049	Short metacarpal
9361	LONP1	HP:0012698	Cerebellar gliosis
9361	LONP1	HP:0000682	Abnormal dental enamel morphology
9361	LONP1	HP:0000684	Delayed eruption of teeth
9361	LONP1	HP:0001999	Abnormal facial shape
9361	LONP1	HP:0004322	Short stature
9361	LONP1	HP:0006970	Periventricular leukomalacia
9361	LONP1	HP:0006956	Lateral ventricle dilatation
9361	LONP1	HP:0030680	Abnormality of cardiovascular system morphology
9361	LONP1	HP:0005692	Joint hyperflexibility
9361	LONP1	HP:0006999	Basal ganglia gliosis
9361	LONP1	HP:0000707	Abnormality of the nervous system
9361	LONP1	HP:0011471	Gastrostomy tube feeding in infancy
9361	LONP1	HP:0000776	Congenital diaphragmatic hernia
9361	LONP1	HP:0003196	Short nose
9361	LONP1	HP:0003177	Squared iliac bones
9361	LONP1	HP:0005792	Short humerus
9361	LONP1	HP:0003128	Lactic acidosis
9361	LONP1	HP:0000884	Prominent sternum
9361	LONP1	HP:0100255	Metaphyseal dysplasia
9361	LONP1	HP:0010315	Aplasia/Hypoplasia of the diaphragm
9361	LONP1	HP:0000954	Single transverse palmar crease
9361	LONP1	HP:0008081	Pes valgus
9361	LONP1	HP:0000286	Epicanthus
9361	LONP1	HP:0000252	Microcephaly
9361	LONP1	HP:0001561	Polyhydramnios
9361	LONP1	HP:0002857	Genu valgum
9361	LONP1	HP:0001539	Omphalocele
9361	LONP1	HP:0001518	Small for gestational age
9361	LONP1	HP:0001511	Intrauterine growth retardation
9361	LONP1	HP:0012368	Flat face
9361	LONP1	HP:0000396	Overfolded helix
9361	LONP1	HP:0005242	Extrahepatic biliary duct atresia
9361	LONP1	HP:0001604	Vocal cord paresis
9361	LONP1	HP:0001600	Abnormality of the larynx
9361	LONP1	HP:0006482	Abnormality of dental morphology
9361	LONP1	HP:0001629	Ventricular septal defect
9361	LONP1	HP:0001631	Atrial septal defect
9361	LONP1	HP:0011196	EEG with focal sharp waves
9361	LONP1	HP:0011193	EEG with focal spikes
9361	LONP1	HP:0011199	EEG with generalized sharp slow waves
9361	LONP1	HP:0006695	Atrioventricular canal defect
9361	LONP1	HP:0000407	Sensorineural hearing impairment
9361	LONP1	HP:0000405	Conductive hearing impairment
9361	LONP1	HP:0005280	Depressed nasal bridge
9361	LONP1	HP:0000486	Strabismus
9361	LONP1	HP:0012469	Infantile spasms
9361	LONP1	HP:0000463	Anteverted nares
9361	LONP1	HP:0012443	Abnormality of brain morphology
9361	LONP1	HP:0012418	Hypoxemia
9361	LONP1	HP:0001761	Pes cavus
9361	LONP1	HP:0004122	Midline defect of the nose
9361	LONP1	HP:0006799	Basal ganglia cysts
9361	LONP1	HP:0000518	Cataract
9361	LONP1	HP:0000519	Developmental cataract
9361	LONP1	HP:0000508	Ptosis
9361	LONP1	HP:0001883	Talipes
9364	RAB28	HP:0000007	Autosomal recessive inheritance
9364	RAB28	HP:0007663	Reduced visual acuity
9364	RAB28	HP:0025010	Foveal atrophy
9364	RAB28	HP:0003621	Juvenile onset
9364	RAB28	HP:0000613	Photophobia
9364	RAB28	HP:0000603	Central scotoma
9364	RAB28	HP:0000662	Nyctalopia
9364	RAB28	HP:0011463	Childhood onset
9364	RAB28	HP:0008001	Foveal hyperpigmentation
9364	RAB28	HP:0007703	Abnormality of retinal pigmentation
9364	RAB28	HP:0011003	High myopia
9364	RAB28	HP:0000505	Visual impairment
9364	RAB28	HP:0000551	Color vision defect
9364	RAB28	HP:0000548	Cone/cone-rod dystrophy
9365	KL	HP:0006051	Metacarpal periosteal thickening
9365	KL	HP:0002514	Cerebral calcification
9365	KL	HP:0000007	Autosomal recessive inheritance
9365	KL	HP:0025441	Achilles tendon calcification
9365	KL	HP:0000103	Polyuria
9365	KL	HP:0008208	Parathyroid hyperplasia
9365	KL	HP:0002315	Headache
9365	KL	HP:0001959	Polydipsia
9365	KL	HP:0003072	Hypercalcemia
9365	KL	HP:0000787	Nephrolithiasis
9365	KL	HP:0003165	Elevated circulating parathyroid hormone level
9365	KL	HP:0000938	Osteopenia
9365	KL	HP:0031415	High serum calcitriol
9365	KL	HP:0012378	Fatigue
9365	KL	HP:0002905	Hyperphosphatemia
9365	KL	HP:0005450	Calvarial osteosclerosis
9368	NHERF1	HP:0002659	Increased susceptibility to fractures
9368	NHERF1	HP:0000006	Autosomal dominant inheritance
9368	NHERF1	HP:0000117	Renal phosphate wasting
9368	NHERF1	HP:0002148	Hypophosphatemia
9368	NHERF1	HP:0000787	Nephrolithiasis
9368	NHERF1	HP:0003109	Hyperphosphaturia
9368	NHERF1	HP:0000939	Osteoporosis
9368	NHERF1	HP:0000938	Osteopenia
9371	KIF3B	HP:0001133	Constriction of peripheral visual field
9371	KIF3B	HP:0025158	Hyperautofluorescent retinal lesion
9371	KIF3B	HP:0001395	Hepatic fibrosis
9371	KIF3B	HP:0000006	Autosomal dominant inheritance
9371	KIF3B	HP:0001433	Hepatosplenomegaly
9371	KIF3B	HP:0001413	Micronodular cirrhosis
9371	KIF3B	HP:0002040	Esophageal varix
9371	KIF3B	HP:0033149	Intrahepatic bile duct dilatation
9371	KIF3B	HP:0030473	Abnormal light-adapted flicker electroretinogram
9371	KIF3B	HP:0000662	Nyctalopia
9371	KIF3B	HP:0011463	Childhood onset
9371	KIF3B	HP:0100259	Postaxial polydactyly
9371	KIF3B	HP:0001647	Bicuspid aortic valve
9371	KIF3B	HP:0030329	Retinal thinning
9371	KIF3B	HP:0000510	Rod-cone dystrophy
9373	PLAA	HP:0001187	Hyperextensibility of the finger joints
9373	PLAA	HP:0002483	Bulbar signs
9373	PLAA	HP:0002478	Progressive spastic quadriplegia
9373	PLAA	HP:0001162	Postaxial hand polydactyly
9373	PLAA	HP:0007256	Abnormal pyramidal sign
9373	PLAA	HP:0100807	Long fingers
9373	PLAA	HP:0001276	Hypertonia
9373	PLAA	HP:0001283	Bulbar palsy
9373	PLAA	HP:0001250	Seizure
9373	PLAA	HP:0001252	Hypotonia
9373	PLAA	HP:0001249	Intellectual disability
9373	PLAA	HP:0001263	Global developmental delay
9373	PLAA	HP:0007410	Palmoplantar hyperhidrosis
9373	PLAA	HP:0002536	Abnormal cortical gyration
9373	PLAA	HP:0002521	Hypsarrhythmia
9373	PLAA	HP:0003828	Variable expressivity
9373	PLAA	HP:0002509	Limb hypertonia
9373	PLAA	HP:0007514	Edema of the dorsum of hands
9373	PLAA	HP:0012098	Edema of the dorsum of feet
9373	PLAA	HP:0031162	Impaired oropharyngeal swallow response
9373	PLAA	HP:0001332	Dystonia
9373	PLAA	HP:0000007	Autosomal recessive inheritance
9373	PLAA	HP:0002033	Poor suck
9373	PLAA	HP:0002015	Dysphagia
9373	PLAA	HP:0100543	Cognitive impairment
9373	PLAA	HP:0002093	Respiratory insufficiency
9373	PLAA	HP:0002063	Rigidity
9373	PLAA	HP:0002079	Hypoplasia of the corpus callosum
9373	PLAA	HP:0002071	Abnormality of extrapyramidal motor function
9373	PLAA	HP:0003487	Babinski sign
9373	PLAA	HP:0002120	Cerebral cortical atrophy
9373	PLAA	HP:0002119	Ventriculomegaly
9373	PLAA	HP:0002104	Apnea
9373	PLAA	HP:0002197	Generalized-onset seizure
9373	PLAA	HP:0008278	Cerebellar cortical atrophy
9373	PLAA	HP:0002267	Exaggerated startle response
9373	PLAA	HP:0003577	Congenital onset
9373	PLAA	HP:0011968	Feeding difficulties
9373	PLAA	HP:0001007	Hirsutism
9373	PLAA	HP:0002352	Leukoencephalopathy
9373	PLAA	HP:0010804	Tented upper lip vermilion
9373	PLAA	HP:0000639	Nystagmus
9373	PLAA	HP:0000648	Optic atrophy
9373	PLAA	HP:0001999	Abnormal facial shape
9373	PLAA	HP:0006980	Progressive leukoencephalopathy
9373	PLAA	HP:0000768	Pectus carinatum
9373	PLAA	HP:0000750	Delayed speech and language development
9373	PLAA	HP:0012762	Cerebral white matter atrophy
9373	PLAA	HP:0005781	Contractures of the large joints
9373	PLAA	HP:0003196	Short nose
9373	PLAA	HP:0004485	Cessation of head growth
9373	PLAA	HP:0000851	Congenital hypothyroidism
9373	PLAA	HP:0100259	Postaxial polydactyly
9373	PLAA	HP:0000975	Hyperhidrosis
9373	PLAA	HP:0000954	Single transverse palmar crease
9373	PLAA	HP:0000969	Edema
9373	PLAA	HP:0000280	Coarse facial features
9373	PLAA	HP:0002808	Kyphosis
9373	PLAA	HP:0000253	Progressive microcephaly
9373	PLAA	HP:0000252	Microcephaly
9373	PLAA	HP:0000218	High palate
9373	PLAA	HP:0001508	Failure to thrive
9373	PLAA	HP:0000358	Posteriorly rotated ears
9373	PLAA	HP:0000369	Low-set ears
9373	PLAA	HP:0000368	Low-set, posteriorly rotated ears
9373	PLAA	HP:0000343	Long philtrum
9373	PLAA	HP:0000338	Hypomimic face
9373	PLAA	HP:0000347	Micrognathia
9373	PLAA	HP:0000319	Smooth philtrum
9373	PLAA	HP:0000407	Sensorineural hearing impairment
9373	PLAA	HP:0012448	Delayed myelination
9373	PLAA	HP:0001838	Rocker bottom foot
9373	PLAA	HP:0001830	Postaxial foot polydactyly
9377	COX5A	HP:0001254	Lethargy
9377	COX5A	HP:0001252	Hypotonia
9377	COX5A	HP:0003819	Death in childhood
9377	COX5A	HP:0001348	Brisk reflexes
9377	COX5A	HP:0000007	Autosomal recessive inheritance
9377	COX5A	HP:0003348	Hyperalaninemia
9377	COX5A	HP:0002007	Frontal bossing
9377	COX5A	HP:0002092	Pulmonary arterial hypertension
9377	COX5A	HP:0002151	Increased serum lactate
9377	COX5A	HP:0003593	Infantile onset
9377	COX5A	HP:0003577	Congenital onset
9377	COX5A	HP:0002240	Hepatomegaly
9377	COX5A	HP:0008358	Hyperprolinemia
9377	COX5A	HP:0008347	Decreased activity of mitochondrial complex IV
9377	COX5A	HP:0000664	Synophrys
9377	COX5A	HP:0000260	Wide anterior fontanel
9377	COX5A	HP:0001531	Failure to thrive in infancy
9377	COX5A	HP:0001522	Death in infancy
9377	COX5A	HP:0002910	Elevated hepatic transaminase
9377	COX5A	HP:0001640	Cardiomegaly
9377	COX5A	HP:0000490	Deeply set eye
9377	COX5A	HP:0000527	Long eyelashes
9378	NRXN1	HP:0010864	Intellectual disability, severe
9378	NRXN1	HP:0001290	Generalized hypotonia
9378	NRXN1	HP:0001252	Hypotonia
9378	NRXN1	HP:0000007	Autosomal recessive inheritance
9378	NRXN1	HP:0002650	Scoliosis
9378	NRXN1	HP:0000154	Wide mouth
9378	NRXN1	HP:0002020	Gastroesophageal reflux
9378	NRXN1	HP:0002019	Constipation
9378	NRXN1	HP:0002136	Broad-based gait
9378	NRXN1	HP:0200134	Epileptic encephalopathy
9378	NRXN1	HP:0011968	Feeding difficulties
9378	NRXN1	HP:0002376	Developmental regression
9378	NRXN1	HP:0010808	Protruding tongue
9378	NRXN1	HP:0002307	Drooling
9378	NRXN1	HP:0002883	Hyperventilation
9378	NRXN1	HP:0001642	Pulmonic stenosis
9378	NRXN1	HP:0000486	Strabismus
9380	GRHPR	HP:0008672	Calcium oxalate nephrolithiasis
9380	GRHPR	HP:0006000	Ureteral obstruction
9380	GRHPR	HP:0000083	Renal insufficiency
9380	GRHPR	HP:0000010	Recurrent urinary tract infections
9380	GRHPR	HP:0000007	Autosomal recessive inheritance
9380	GRHPR	HP:0000121	Nephrocalcinosis
9380	GRHPR	HP:0000790	Hematuria
9380	GRHPR	HP:0000787	Nephrolithiasis
9380	GRHPR	HP:0003159	Hyperoxaluria
9381	OTOF	HP:0000007	Autosomal recessive inheritance
9381	OTOF	HP:0003577	Congenital onset
9381	OTOF	HP:0008529	Absence of acoustic reflex
9381	OTOF	HP:0004463	Absent brainstem auditory responses
9381	OTOF	HP:0000407	Sensorineural hearing impairment
9382	COG1	HP:0001103	Abnormal macular morphology
9382	COG1	HP:0008551	Microtia
9382	COG1	HP:0001290	Generalized hypotonia
9382	COG1	HP:0001272	Cerebellar atrophy
9382	COG1	HP:0001256	Intellectual disability, mild
9382	COG1	HP:0001252	Hypotonia
9382	COG1	HP:0001263	Global developmental delay
9382	COG1	HP:0000083	Renal insufficiency
9382	COG1	HP:0000047	Hypospadias
9382	COG1	HP:0000028	Cryptorchidism
9382	COG1	HP:0008897	Postnatal growth retardation
9382	COG1	HP:0008872	Feeding difficulties in infancy
9382	COG1	HP:0002673	Coxa valga
9382	COG1	HP:0000007	Autosomal recessive inheritance
9382	COG1	HP:0001320	Cerebellar vermis hypoplasia
9382	COG1	HP:0008905	Rhizomelia
9382	COG1	HP:0000160	Narrow mouth
9382	COG1	HP:0000162	Glossoptosis
9382	COG1	HP:0000175	Cleft palate
9382	COG1	HP:0000126	Hydronephrosis
9382	COG1	HP:0001433	Hepatosplenomegaly
9382	COG1	HP:0002751	Kyphoscoliosis
9382	COG1	HP:0002719	Recurrent infections
9382	COG1	HP:0003316	Butterfly vertebrae
9382	COG1	HP:0011800	Midface retrusion
9382	COG1	HP:0002092	Pulmonary arterial hypertension
9382	COG1	HP:0002059	Cerebral atrophy
9382	COG1	HP:0009465	Ulnar deviation of finger
9382	COG1	HP:0003422	Vertebral segmentation defect
9382	COG1	HP:0003577	Congenital onset
9382	COG1	HP:0002280	Enlarged cisterna magna
9382	COG1	HP:0007033	Cerebellar dysplasia
9382	COG1	HP:0011995	Atrial septal dilatation
9382	COG1	HP:0020045	Esodeviation
9382	COG1	HP:0002342	Intellectual disability, moderate
9382	COG1	HP:0200055	Small hand
9382	COG1	HP:0009797	Cholesteatoma
9382	COG1	HP:0007112	Temporal cortical atrophy
9382	COG1	HP:0005575	Hemolytic-uremic syndrome
9382	COG1	HP:0001903	Anemia
9382	COG1	HP:0001902	Giant platelets
9382	COG1	HP:0011342	Mild global developmental delay
9382	COG1	HP:0001999	Abnormal facial shape
9382	COG1	HP:0004322	Short stature
9382	COG1	HP:0006956	Lateral ventricle dilatation
9382	COG1	HP:0003026	Short long bone
9382	COG1	HP:0031936	Delayed ability to walk
9382	COG1	HP:0000750	Delayed speech and language development
9382	COG1	HP:0003177	Squared iliac bones
9382	COG1	HP:0003182	Shallow acetabular fossae
9382	COG1	HP:0003180	Flat acetabular roof
9382	COG1	HP:0000902	Rib fusion
9382	COG1	HP:0003090	Hypoplasia of the capital femoral epiphysis
9382	COG1	HP:0004582	Irregularity of vertebral bodies
9382	COG1	HP:0000954	Single transverse palmar crease
9382	COG1	HP:0000938	Osteopenia
9382	COG1	HP:0000274	Small face
9382	COG1	HP:0006429	Broad femoral neck
9382	COG1	HP:0000253	Progressive microcephaly
9382	COG1	HP:0000252	Microcephaly
9382	COG1	HP:0000219	Thin upper lip vermilion
9382	COG1	HP:0000218	High palate
9382	COG1	HP:0001531	Failure to thrive in infancy
9382	COG1	HP:0000201	Pierre-Robin sequence
9382	COG1	HP:0001508	Failure to thrive
9382	COG1	HP:0001511	Intrauterine growth retardation
9382	COG1	HP:0012385	Camptodactyly
9382	COG1	HP:0002943	Thoracic scoliosis
9382	COG1	HP:0000358	Posteriorly rotated ears
9382	COG1	HP:0000369	Low-set ears
9382	COG1	HP:0000368	Low-set, posteriorly rotated ears
9382	COG1	HP:0000343	Long philtrum
9382	COG1	HP:0000347	Micrognathia
9382	COG1	HP:0012301	Type II transferrin isoform profile
9382	COG1	HP:0000319	Smooth philtrum
9382	COG1	HP:0000316	Hypertelorism
9382	COG1	HP:0006610	Wide intermamillary distance
9382	COG1	HP:0000405	Conductive hearing impairment
9382	COG1	HP:0000402	Stenosis of the external auditory canal
9382	COG1	HP:0001712	Left ventricular hypertrophy
9382	COG1	HP:0000494	Downslanted palpebral fissures
9382	COG1	HP:0000463	Anteverted nares
9382	COG1	HP:0012444	Brain atrophy
9382	COG1	HP:0000475	Broad neck
9382	COG1	HP:0000470	Short neck
9382	COG1	HP:0001773	Short foot
9382	COG1	HP:0030282	Posterior rib gap
9382	COG1	HP:0001762	Talipes equinovarus
9382	COG1	HP:0000431	Wide nasal bridge
9382	COG1	HP:0000520	Proptosis
9382	COG1	HP:0000582	Upslanted palpebral fissure
9382	COG1	HP:0001873	Thrombocytopenia
9394	HS6ST1	HP:0003782	Eunuchoid habitus
9394	HS6ST1	HP:0001288	Gait disturbance
9394	HS6ST1	HP:0001250	Seizure
9394	HS6ST1	HP:0001252	Hypotonia
9394	HS6ST1	HP:0001251	Ataxia
9394	HS6ST1	HP:0001260	Dysarthria
9394	HS6ST1	HP:0008734	Decreased testicular size
9394	HS6ST1	HP:0008736	Hypoplasia of penis
9394	HS6ST1	HP:0008724	Hypoplasia of the ovary
9394	HS6ST1	HP:0000044	Hypogonadotropic hypogonadism
9394	HS6ST1	HP:0000054	Micropenis
9394	HS6ST1	HP:0000026	Male hypogonadism
9394	HS6ST1	HP:0000028	Cryptorchidism
9394	HS6ST1	HP:0000027	Azoospermia
9394	HS6ST1	HP:0000002	Abnormality of body height
9394	HS6ST1	HP:0001324	Muscle weakness
9394	HS6ST1	HP:0000013	Hypoplasia of the uterus
9394	HS6ST1	HP:0000008	Abnormal morphology of female internal genitalia
9394	HS6ST1	HP:0001335	Bimanual synkinesia
9394	HS6ST1	HP:0001337	Tremor
9394	HS6ST1	HP:0000006	Autosomal dominant inheritance
9394	HS6ST1	HP:0002652	Skeletal dysplasia
9394	HS6ST1	HP:0000164	Abnormality of the dentition
9394	HS6ST1	HP:0000175	Cleft palate
9394	HS6ST1	HP:0000144	Decreased fertility
9394	HS6ST1	HP:0000118	Phenotypic abnormality
9394	HS6ST1	HP:0000134	Female hypogonadism
9394	HS6ST1	HP:0002761	Generalized joint laxity
9394	HS6ST1	HP:0002757	Recurrent fractures
9394	HS6ST1	HP:0000104	Renal agenesis
9394	HS6ST1	HP:0002750	Delayed skeletal maturation
9394	HS6ST1	HP:0008197	Absence of pubertal development
9394	HS6ST1	HP:0008187	Absence of secondary sex characteristics
9394	HS6ST1	HP:0010550	Paraplegia
9394	HS6ST1	HP:0002231	Sparse body hair
9394	HS6ST1	HP:0011961	Non-obstructive azoospermia
9394	HS6ST1	HP:0008527	Congenital sensorineural hearing impairment
9394	HS6ST1	HP:0009804	Tooth agenesis
9394	HS6ST1	HP:0100639	Erectile dysfunction
9394	HS6ST1	HP:0000639	Nystagmus
9394	HS6ST1	HP:0030680	Abnormality of cardiovascular system morphology
9394	HS6ST1	HP:0000802	Impotence
9394	HS6ST1	HP:0004349	Reduced bone mineral density
9394	HS6ST1	HP:0000771	Gynecomastia
9394	HS6ST1	HP:0000739	Anxiety
9394	HS6ST1	HP:0000716	Depression
9394	HS6ST1	HP:0000786	Primary amenorrhea
9394	HS6ST1	HP:0004409	Hyposmia
9394	HS6ST1	HP:0003187	Breast hypoplasia
9394	HS6ST1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
9394	HS6ST1	HP:0000869	Secondary amenorrhea
9394	HS6ST1	HP:0000830	Anterior hypopituitarism
9394	HS6ST1	HP:0000823	Delayed puberty
9394	HS6ST1	HP:0000939	Osteoporosis
9394	HS6ST1	HP:0000938	Osteopenia
9394	HS6ST1	HP:0040171	Decreased serum testosterone concentration
9394	HS6ST1	HP:0008064	Ichthyosis
9394	HS6ST1	HP:0030016	Dyspareunia
9394	HS6ST1	HP:0030019	Increased female libido
9394	HS6ST1	HP:0002857	Genu valgum
9394	HS6ST1	HP:0001513	Obesity
9394	HS6ST1	HP:0012385	Camptodactyly
9394	HS6ST1	HP:0001608	Abnormality of the voice
9394	HS6ST1	HP:0000316	Hypertelorism
9394	HS6ST1	HP:0006610	Wide intermamillary distance
9394	HS6ST1	HP:0000407	Sensorineural hearing impairment
9394	HS6ST1	HP:0005280	Depressed nasal bridge
9394	HS6ST1	HP:0000458	Anosmia
9394	HS6ST1	HP:0001763	Pes planus
9394	HS6ST1	HP:0001761	Pes cavus
9394	HS6ST1	HP:0012506	Small pituitary gland
9394	HS6ST1	HP:0000508	Ptosis
9394	HS6ST1	HP:0000505	Visual impairment
9394	HS6ST1	HP:0000551	Color vision defect
9401	RECQL4	HP:0001180	Hand oligodactyly
9401	RECQL4	HP:0001118	Juvenile cataract
9401	RECQL4	HP:0010920	Zonular cataract
9401	RECQL4	HP:0001191	Abnormal carpal morphology
9401	RECQL4	HP:0008577	Underfolded helix
9401	RECQL4	HP:0003761	Calcinosis
9401	RECQL4	HP:0001274	Agenesis of corpus callosum
9401	RECQL4	HP:0001270	Motor delay
9401	RECQL4	HP:0001250	Seizure
9401	RECQL4	HP:0001249	Intellectual disability
9401	RECQL4	HP:0007418	Alopecia totalis
9401	RECQL4	HP:0100840	Aplasia/Hypoplasia of the eyebrow
9401	RECQL4	HP:0010978	Abnormality of immune system physiology
9401	RECQL4	HP:0000077	Abnormality of the kidney
9401	RECQL4	HP:0000076	Vesicoureteral reflux
9401	RECQL4	HP:0000069	Abnormality of the ureter
9401	RECQL4	HP:0001374	Congenital hip dislocation
9401	RECQL4	HP:0001373	Joint dislocation
9401	RECQL4	HP:0001363	Craniosynostosis
9401	RECQL4	HP:0000028	Cryptorchidism
9401	RECQL4	HP:0007556	Plantar hyperkeratosis
9401	RECQL4	HP:0008846	Severe intrauterine growth retardation
9401	RECQL4	HP:0007452	Midface capillary hemangioma
9401	RECQL4	HP:0003995	Abnormality of the radial head
9401	RECQL4	HP:0002671	Basal cell carcinoma
9401	RECQL4	HP:0000007	Autosomal recessive inheritance
9401	RECQL4	HP:0002669	Osteosarcoma
9401	RECQL4	HP:0002665	Lymphoma
9401	RECQL4	HP:0002650	Scoliosis
9401	RECQL4	HP:0003974	Absent radius
9401	RECQL4	HP:0000193	Bifid uvula
9401	RECQL4	HP:0012165	Oligodactyly
9401	RECQL4	HP:0000164	Abnormality of the dentition
9401	RECQL4	HP:0000160	Narrow mouth
9401	RECQL4	HP:0000175	Cleft palate
9401	RECQL4	HP:0000143	Rectovaginal fistula
9401	RECQL4	HP:0000135	Hypogonadism
9401	RECQL4	HP:0006349	Agenesis of permanent teeth
9401	RECQL4	HP:0002705	High, narrow palate
9401	RECQL4	HP:0000126	Hydronephrosis
9401	RECQL4	HP:0002756	Pathologic fracture
9401	RECQL4	HP:0002751	Kyphoscoliosis
9401	RECQL4	HP:0002750	Delayed skeletal maturation
9401	RECQL4	HP:0002023	Anal atresia
9401	RECQL4	HP:0002024	Malabsorption
9401	RECQL4	HP:0002014	Diarrhea
9401	RECQL4	HP:0002013	Vomiting
9401	RECQL4	HP:0002007	Frontal bossing
9401	RECQL4	HP:0100542	Abnormal localization of kidney
9401	RECQL4	HP:0100589	Urogenital fistula
9401	RECQL4	HP:0040288	Nasogastric tube feeding
9401	RECQL4	HP:0005916	Abnormal metacarpal morphology
9401	RECQL4	HP:0009486	Radial deviation of the hand
9401	RECQL4	HP:0003468	Abnormal vertebral morphology
9401	RECQL4	HP:0002126	Polymicrogyria
9401	RECQL4	HP:0009601	Aplasia/Hypoplasia of the thumb
9401	RECQL4	HP:0002164	Nail dysplasia
9401	RECQL4	HP:0003577	Congenital onset
9401	RECQL4	HP:0002223	Absent eyebrow
9401	RECQL4	HP:0200102	Sparse or absent eyelashes
9401	RECQL4	HP:0002216	Premature graying of hair
9401	RECQL4	HP:0004871	Perineal fistula
9401	RECQL4	HP:0002209	Sparse scalp hair
9401	RECQL4	HP:0008404	Nail dystrophy
9401	RECQL4	HP:0009700	Finger symphalangism
9401	RECQL4	HP:0009702	Carpal synostosis
9401	RECQL4	HP:0011968	Feeding difficulties
9401	RECQL4	HP:0003510	Severe short stature
9401	RECQL4	HP:0001029	Poikiloderma
9401	RECQL4	HP:0001041	Facial erythema
9401	RECQL4	HP:0001010	Hypopigmentation of the skin
9401	RECQL4	HP:0001009	Telangiectasia
9401	RECQL4	HP:0004979	Metaphyseal sclerosis
9401	RECQL4	HP:0100671	Abnormal trabecular bone morphology
9401	RECQL4	HP:0009821	Forearm undergrowth
9401	RECQL4	HP:0009804	Tooth agenesis
9401	RECQL4	HP:0001070	Mottled pigmentation
9401	RECQL4	HP:0200044	Porokeratosis
9401	RECQL4	HP:0009803	Short phalanx of finger
9401	RECQL4	HP:0200055	Small hand
9401	RECQL4	HP:0010783	Erythema
9401	RECQL4	HP:0009777	Absent thumb
9401	RECQL4	HP:0009778	Short thumb
9401	RECQL4	HP:0002308	Chiari malformation
9401	RECQL4	HP:0004279	Short palm
9401	RECQL4	HP:0004231	Carpal bone aplasia
9401	RECQL4	HP:0000639	Nystagmus
9401	RECQL4	HP:0000648	Optic atrophy
9401	RECQL4	HP:0000609	Optic nerve hypoplasia
9401	RECQL4	HP:0000601	Hypotelorism
9401	RECQL4	HP:0001909	Leukemia
9401	RECQL4	HP:0001903	Anemia
9401	RECQL4	HP:0001915	Aplastic anemia
9401	RECQL4	HP:0010049	Short metacarpal
9401	RECQL4	HP:0010048	Aplasia of metacarpal bones
9401	RECQL4	HP:0000682	Abnormal dental enamel morphology
9401	RECQL4	HP:0000684	Delayed eruption of teeth
9401	RECQL4	HP:0011341	Long upper lip
9401	RECQL4	HP:0000691	Microdontia
9401	RECQL4	HP:0000685	Hypoplasia of teeth
9401	RECQL4	HP:0011318	Bicoronal synostosis
9401	RECQL4	HP:0000653	Sparse eyelashes
9401	RECQL4	HP:0000670	Carious teeth
9401	RECQL4	HP:0004322	Short stature
9401	RECQL4	HP:0004334	Dermal atrophy
9401	RECQL4	HP:0030680	Abnormality of cardiovascular system morphology
9401	RECQL4	HP:0003065	Patellar hypoplasia
9401	RECQL4	HP:0003031	Ulnar bowing
9401	RECQL4	HP:0034197	Third trimester onset
9401	RECQL4	HP:0034198	Second trimester onset
9401	RECQL4	HP:0003022	Hypoplasia of the ulna
9401	RECQL4	HP:0012719	Functional abnormality of the gastrointestinal tract
9401	RECQL4	HP:0005775	Multiple skeletal anomalies
9401	RECQL4	HP:0004443	Lambdoidal craniosynostosis
9401	RECQL4	HP:0004442	Sagittal craniosynostosis
9401	RECQL4	HP:0004440	Coronal craniosynostosis
9401	RECQL4	HP:0004425	Flat forehead
9401	RECQL4	HP:0003196	Short nose
9401	RECQL4	HP:0003189	Long nose
9401	RECQL4	HP:0000902	Rib fusion
9401	RECQL4	HP:0005792	Short humerus
9401	RECQL4	HP:0005886	Aphalangy of the hands
9401	RECQL4	HP:0003298	Spina bifida occulta
9401	RECQL4	HP:0045075	Sparse eyebrow
9401	RECQL4	HP:0000992	Cutaneous photosensitivity
9401	RECQL4	HP:0000953	Hyperpigmentation of the skin
9401	RECQL4	HP:0000939	Osteoporosis
9401	RECQL4	HP:0000938	Osteopenia
9401	RECQL4	HP:0045025	Narrow palpebral fissure
9401	RECQL4	HP:0100238	Synostosis involving bones of the upper limbs
9401	RECQL4	HP:0008070	Sparse hair
9401	RECQL4	HP:0008066	Abnormal blistering of the skin
9401	RECQL4	HP:0008069	Neoplasm of the skin
9401	RECQL4	HP:0000286	Epicanthus
9401	RECQL4	HP:0000282	Facial edema
9401	RECQL4	HP:0000263	Oxycephaly
9401	RECQL4	HP:0001596	Alopecia
9401	RECQL4	HP:0000260	Wide anterior fontanel
9401	RECQL4	HP:0000262	Turricephaly
9401	RECQL4	HP:0000275	Narrow face
9401	RECQL4	HP:0000276	Long face
9401	RECQL4	HP:0006467	Limited shoulder movement
9401	RECQL4	HP:0006443	Patellar aplasia
9401	RECQL4	HP:0006368	Forearm reduction defects
9401	RECQL4	HP:0000244	Brachyturricephaly
9401	RECQL4	HP:0000239	Large fontanelles
9401	RECQL4	HP:0000238	Hydrocephalus
9401	RECQL4	HP:0000248	Brachycephaly
9401	RECQL4	HP:0000218	High palate
9401	RECQL4	HP:0001545	Anteriorly placed anus
9401	RECQL4	HP:0000233	Thin vermilion border
9401	RECQL4	HP:0002861	Melanoma
9401	RECQL4	HP:0001531	Failure to thrive in infancy
9401	RECQL4	HP:0002860	Squamous cell carcinoma
9401	RECQL4	HP:0002870	Obstructive sleep apnea
9401	RECQL4	HP:0002863	Myelodysplasia
9401	RECQL4	HP:0031367	Metaphyseal striations
9401	RECQL4	HP:0001518	Small for gestational age
9401	RECQL4	HP:0001511	Intrauterine growth retardation
9401	RECQL4	HP:0001510	Growth delay
9401	RECQL4	HP:0006501	Aplasia/Hypoplasia of the radius
9401	RECQL4	HP:0011069	Supernumerary tooth
9401	RECQL4	HP:0000396	Overfolded helix
9401	RECQL4	HP:0000395	Prominent antihelix
9401	RECQL4	HP:0005201	Anomalous splenoportal venous system
9401	RECQL4	HP:0005198	Stiff interphalangeal joints
9401	RECQL4	HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs
9401	RECQL4	HP:0006498	Aplasia/Hypoplasia of the patella
9401	RECQL4	HP:0006487	Bowing of the long bones
9401	RECQL4	HP:0000365	Hearing impairment
9401	RECQL4	HP:0000358	Posteriorly rotated ears
9401	RECQL4	HP:0011003	High myopia
9401	RECQL4	HP:0000369	Low-set ears
9401	RECQL4	HP:0001671	Abnormal cardiac septum morphology
9401	RECQL4	HP:0000337	Broad forehead
9401	RECQL4	HP:0002996	Limited elbow movement
9401	RECQL4	HP:0000347	Micrognathia
9401	RECQL4	HP:0000316	Hypertelorism
9401	RECQL4	HP:0000331	Short chin
9401	RECQL4	HP:0002984	Hypoplasia of the radius
9401	RECQL4	HP:0001627	Abnormal heart morphology
9401	RECQL4	HP:0002970	Genu varum
9401	RECQL4	HP:0000303	Mandibular prognathia
9401	RECQL4	HP:0004039	Abnormal ulnar metaphysis morphology
9401	RECQL4	HP:0001734	Annular pancreas
9401	RECQL4	HP:0000405	Conductive hearing impairment
9401	RECQL4	HP:0005280	Depressed nasal bridge
9401	RECQL4	HP:0000483	Astigmatism
9401	RECQL4	HP:0000486	Strabismus
9401	RECQL4	HP:0000482	Microcornea
9401	RECQL4	HP:0000494	Downslanted palpebral fissures
9401	RECQL4	HP:0011120	Concave nasal ridge
9401	RECQL4	HP:0001773	Short foot
9401	RECQL4	HP:0000452	Choanal stenosis
9401	RECQL4	HP:0000446	Narrow nasal bridge
9401	RECQL4	HP:0000417	Slender nose
9401	RECQL4	HP:0000410	Mixed hearing impairment
9401	RECQL4	HP:0001762	Talipes equinovarus
9401	RECQL4	HP:0000430	Underdeveloped nasal alae
9401	RECQL4	HP:0000426	Prominent nasal bridge
9401	RECQL4	HP:0000518	Cataract
9401	RECQL4	HP:0000519	Developmental cataract
9401	RECQL4	HP:0000520	Proptosis
9401	RECQL4	HP:0000501	Glaucoma
9401	RECQL4	HP:0000581	Blepharophimosis
9401	RECQL4	HP:0000561	Absent eyelashes
9401	RECQL4	HP:0011220	Prominent forehead
9401	RECQL4	HP:0000568	Microphthalmia
9401	RECQL4	HP:0000545	Myopia
9401	RECQL4	HP:0001875	Neutropenia
9409	PEX16	HP:0001133	Constriction of peripheral visual field
9409	PEX16	HP:0008572	External ear malformation
9409	PEX16	HP:0009891	Underdeveloped supraorbital ridges
9409	PEX16	HP:0002415	Leukodystrophy
9409	PEX16	HP:0001290	Generalized hypotonia
9409	PEX16	HP:0001276	Hypertonia
9409	PEX16	HP:0001272	Cerebellar atrophy
9409	PEX16	HP:0001250	Seizure
9409	PEX16	HP:0001252	Hypotonia
9409	PEX16	HP:0001251	Ataxia
9409	PEX16	HP:0001249	Intellectual disability
9409	PEX16	HP:0001260	Dysarthria
9409	PEX16	HP:0001263	Global developmental delay
9409	PEX16	HP:0001257	Spasticity
9409	PEX16	HP:0007371	Corpus callosum atrophy
9409	PEX16	HP:0008665	Clitoral hypertrophy
9409	PEX16	HP:0002505	Loss of ambulation
9409	PEX16	HP:0002500	Abnormal cerebral white matter morphology
9409	PEX16	HP:0001399	Hepatic failure
9409	PEX16	HP:0001392	Abnormality of the liver
9409	PEX16	HP:0000047	Hypospadias
9409	PEX16	HP:0001348	Brisk reflexes
9409	PEX16	HP:0001347	Hyperreflexia
9409	PEX16	HP:0000028	Cryptorchidism
9409	PEX16	HP:0008872	Feeding difficulties in infancy
9409	PEX16	HP:0000007	Autosomal recessive inheritance
9409	PEX16	HP:0000003	Multicystic kidney dysplasia
9409	PEX16	HP:0001310	Dysmetria
9409	PEX16	HP:0002652	Skeletal dysplasia
9409	PEX16	HP:0001319	Neonatal hypotonia
9409	PEX16	HP:0001315	Reduced tendon reflexes
9409	PEX16	HP:0000162	Glossoptosis
9409	PEX16	HP:0000157	Abnormality of the tongue
9409	PEX16	HP:0000174	Abnormal palate morphology
9409	PEX16	HP:0008935	Generalized neonatal hypotonia
9409	PEX16	HP:0007598	Bilateral single transverse palmar creases
9409	PEX16	HP:0000126	Hydronephrosis
9409	PEX16	HP:0001410	Decreased liver function
9409	PEX16	HP:0002024	Malabsorption
9409	PEX16	HP:0002021	Pyloric stenosis
9409	PEX16	HP:0002019	Constipation
9409	PEX16	HP:0002015	Dysphagia
9409	PEX16	HP:0003323	Progressive muscle weakness
9409	PEX16	HP:0100543	Cognitive impairment
9409	PEX16	HP:0002093	Respiratory insufficiency
9409	PEX16	HP:0002066	Gait ataxia
9409	PEX16	HP:0002063	Rigidity
9409	PEX16	HP:0002061	Lower limb spasticity
9409	PEX16	HP:0005930	Abnormal epiphysis morphology
9409	PEX16	HP:0008167	Very long chain fatty acid accumulation
9409	PEX16	HP:0003487	Babinski sign
9409	PEX16	HP:0002126	Polymicrogyria
9409	PEX16	HP:0002169	Clonus
9409	PEX16	HP:0010571	Elevated circulating phytanic acid concentration
9409	PEX16	HP:0008207	Primary adrenal insufficiency
9409	PEX16	HP:0003593	Infantile onset
9409	PEX16	HP:0002269	Abnormality of neuronal migration
9409	PEX16	HP:0002240	Hepatomegaly
9409	PEX16	HP:0200085	Limb tremor
9409	PEX16	HP:0010655	Epiphyseal stippling
9409	PEX16	HP:0010628	Facial palsy
9409	PEX16	HP:0002359	Frequent falls
9409	PEX16	HP:0002376	Developmental regression
9409	PEX16	HP:0003676	Progressive
9409	PEX16	HP:0002353	EEG abnormality
9409	PEX16	HP:0002317	Unsteady gait
9409	PEX16	HP:0002313	Spastic paraparesis
9409	PEX16	HP:0009830	Peripheral neuropathy
9409	PEX16	HP:0001088	Brushfield spots
9409	PEX16	HP:0006855	Cerebellar vermis atrophy
9409	PEX16	HP:0006829	Severe muscular hypotonia
9409	PEX16	HP:0000639	Nystagmus
9409	PEX16	HP:0000648	Optic atrophy
9409	PEX16	HP:0000627	Posterior embryotoxon
9409	PEX16	HP:0001928	Abnormality of coagulation
9409	PEX16	HP:0001939	Abnormality of metabolism/homeostasis
9409	PEX16	HP:0011344	Severe global developmental delay
9409	PEX16	HP:0000662	Nyctalopia
9409	PEX16	HP:0000666	Horizontal nystagmus
9409	PEX16	HP:0004322	Short stature
9409	PEX16	HP:0031956	Elevated circulating aspartate aminotransferase concentration
9409	PEX16	HP:0012736	Profound global developmental delay
9409	PEX16	HP:0100022	Abnormality of movement
9409	PEX16	HP:0000708	Atypical behavior
9409	PEX16	HP:0011463	Childhood onset
9409	PEX16	HP:0011448	Ankle clonus
9409	PEX16	HP:0000952	Jaundice
9409	PEX16	HP:0008064	Ichthyosis
9409	PEX16	HP:0011675	Arrhythmia
9409	PEX16	HP:0007703	Abnormality of retinal pigmentation
9409	PEX16	HP:0000286	Epicanthus
9409	PEX16	HP:0000260	Wide anterior fontanel
9409	PEX16	HP:0000256	Macrocephaly
9409	PEX16	HP:0000271	Abnormality of the face
9409	PEX16	HP:0000268	Dolichocephaly
9409	PEX16	HP:0000252	Microcephaly
9409	PEX16	HP:0000218	High palate
9409	PEX16	HP:0001522	Death in infancy
9409	PEX16	HP:0001508	Failure to thrive
9409	PEX16	HP:0030051	Tip-toe gait
9409	PEX16	HP:0011096	Peripheral demyelination
9409	PEX16	HP:0012368	Flat face
9409	PEX16	HP:0000365	Hearing impairment
9409	PEX16	HP:0000368	Low-set, posteriorly rotated ears
9409	PEX16	HP:0000348	High forehead
9409	PEX16	HP:0000347	Micrognathia
9409	PEX16	HP:0001629	Ventricular septal defect
9409	PEX16	HP:0001622	Premature birth
9409	PEX16	HP:0001638	Cardiomyopathy
9409	PEX16	HP:0007957	Corneal opacity
9409	PEX16	HP:0000407	Sensorineural hearing impairment
9409	PEX16	HP:0005280	Depressed nasal bridge
9409	PEX16	HP:0000486	Strabismus
9409	PEX16	HP:0000463	Anteverted nares
9409	PEX16	HP:0012444	Brain atrophy
9409	PEX16	HP:0000474	Thickened nuchal skin fold
9409	PEX16	HP:0000431	Wide nasal bridge
9409	PEX16	HP:0005469	Flat occiput
9409	PEX16	HP:0000518	Cataract
9409	PEX16	HP:0000510	Rod-cone dystrophy
9409	PEX16	HP:0000508	Ptosis
9409	PEX16	HP:0000505	Visual impairment
9409	PEX16	HP:0000501	Glaucoma
9409	PEX16	HP:0000582	Upslanted palpebral fissure
9409	PEX16	HP:0000556	Retinal dystrophy
9409	PEX16	HP:0012534	Dysesthesia
9409	PEX16	HP:0000532	Abnormal chorioretinal morphology
9411	ARHGAP29	HP:0008872	Feeding difficulties in infancy
9411	ARHGAP29	HP:0000175	Cleft palate
9411	ARHGAP29	HP:0006342	Peg-shaped maxillary lateral incisors
9411	ARHGAP29	HP:0006292	Abnormality of dental eruption
9411	ARHGAP29	HP:0002033	Poor suck
9411	ARHGAP29	HP:0200153	Agenesis of lateral incisor
9411	ARHGAP29	HP:0200136	Oral-pharyngeal dysphagia
9411	ARHGAP29	HP:0009088	Speech articulation difficulties
9411	ARHGAP29	HP:0000689	Dental malocclusion
9411	ARHGAP29	HP:0004395	Malnutrition
9411	ARHGAP29	HP:0000750	Delayed speech and language development
9411	ARHGAP29	HP:0100337	Bilateral cleft palate
9411	ARHGAP29	HP:0100334	Unilateral cleft palate
9411	ARHGAP29	HP:0010294	Palate fistula
9411	ARHGAP29	HP:0000220	Velopharyngeal insufficiency
9411	ARHGAP29	HP:0000202	Orofacial cleft
9411	ARHGAP29	HP:0011044	Abnormal number of permanent teeth
9411	ARHGAP29	HP:0001611	Hypernasal speech
9411	ARHGAP29	HP:0000327	Hypoplasia of the maxilla
9411	ARHGAP29	HP:0000403	Recurrent otitis media
9411	ARHGAP29	HP:0000405	Conductive hearing impairment
9414	TJP2	HP:0002570	Steatorrhea
9414	TJP2	HP:0001399	Hepatic failure
9414	TJP2	HP:0001394	Cirrhosis
9414	TJP2	HP:0000007	Autosomal recessive inheritance
9414	TJP2	HP:0002630	Fat malabsorption
9414	TJP2	HP:0001409	Portal hypertension
9414	TJP2	HP:0001406	Intrahepatic cholestasis
9414	TJP2	HP:0001402	Hepatocellular carcinoma
9414	TJP2	HP:0002748	Rickets
9414	TJP2	HP:0011892	Low levels of vitamin K
9414	TJP2	HP:0003593	Infantile onset
9414	TJP2	HP:0003676	Progressive
9414	TJP2	HP:0003623	Neonatal onset
9414	TJP2	HP:0000989	Pruritus
9414	TJP2	HP:0012202	Increased serum bile acid concentration
9414	TJP2	HP:0001508	Failure to thrive
9419	CRIPT	HP:0001156	Brachydactyly
9419	CRIPT	HP:0001159	Syndactyly
9419	CRIPT	HP:0009882	Short distal phalanx of finger
9419	CRIPT	HP:0000007	Autosomal recessive inheritance
9419	CRIPT	HP:0002719	Recurrent infections
9419	CRIPT	HP:0002007	Frontal bossing
9419	CRIPT	HP:0002079	Hypoplasia of the corpus callosum
9419	CRIPT	HP:0009623	Proximal placement of thumb
9419	CRIPT	HP:0011927	Short digit
9419	CRIPT	HP:0003577	Congenital onset
9419	CRIPT	HP:0002209	Sparse scalp hair
9419	CRIPT	HP:0003510	Severe short stature
9419	CRIPT	HP:0004823	Anisopoikilocytosis
9419	CRIPT	HP:0002384	Focal impaired awareness seizure
9419	CRIPT	HP:0005590	Spotty hypopigmentation
9419	CRIPT	HP:0005585	Spotty hyperpigmentation
9419	CRIPT	HP:0000639	Nystagmus
9419	CRIPT	HP:0001903	Anemia
9419	CRIPT	HP:0004325	Decreased body weight
9419	CRIPT	HP:0012736	Profound global developmental delay
9419	CRIPT	HP:0045075	Sparse eyebrow
9419	CRIPT	HP:0000938	Osteopenia
9419	CRIPT	HP:0000252	Microcephaly
9419	CRIPT	HP:0001522	Death in infancy
9419	CRIPT	HP:0001518	Small for gestational age
9419	CRIPT	HP:0011003	High myopia
9419	CRIPT	HP:0000348	High forehead
9419	CRIPT	HP:0000308	Microretrognathia
9419	CRIPT	HP:0005280	Depressed nasal bridge
9419	CRIPT	HP:0000463	Anteverted nares
9419	CRIPT	HP:0001762	Talipes equinovarus
9419	CRIPT	HP:0000520	Proptosis
9419	CRIPT	HP:0000506	Telecanthus
9419	CRIPT	HP:0000577	Exotropia
9420	CYP7B1	HP:0002495	Impaired vibratory sensation
9420	CYP7B1	HP:0007210	Lower limb amyotrophy
9420	CYP7B1	HP:0002406	Limb dysmetria
9420	CYP7B1	HP:0001271	Polyneuropathy
9420	CYP7B1	HP:0001260	Dysarthria
9420	CYP7B1	HP:0001258	Spastic paraplegia
9420	CYP7B1	HP:0002573	Hematochezia
9420	CYP7B1	HP:0002570	Steatorrhea
9420	CYP7B1	HP:0007340	Lower limb muscle weakness
9420	CYP7B1	HP:0002500	Abnormal cerebral white matter morphology
9420	CYP7B1	HP:0001396	Cholestasis
9420	CYP7B1	HP:0001399	Hepatic failure
9420	CYP7B1	HP:0001394	Cirrhosis
9420	CYP7B1	HP:0000079	Abnormality of the urinary system
9420	CYP7B1	HP:0000020	Urinary incontinence
9420	CYP7B1	HP:0001347	Hyperreflexia
9420	CYP7B1	HP:0000007	Autosomal recessive inheritance
9420	CYP7B1	HP:0002650	Scoliosis
9420	CYP7B1	HP:0001317	Abnormal cerebellum morphology
9420	CYP7B1	HP:0002630	Fat malabsorption
9420	CYP7B1	HP:0012115	Hepatitis
9420	CYP7B1	HP:0001433	Hepatosplenomegaly
9420	CYP7B1	HP:0001408	Bile duct proliferation
9420	CYP7B1	HP:0001406	Intrahepatic cholestasis
9420	CYP7B1	HP:0002014	Diarrhea
9420	CYP7B1	HP:0002015	Dysphagia
9420	CYP7B1	HP:0100543	Cognitive impairment
9420	CYP7B1	HP:0002064	Spastic gait
9420	CYP7B1	HP:0002061	Lower limb spasticity
9420	CYP7B1	HP:0002078	Truncal ataxia
9420	CYP7B1	HP:0002070	Limb ataxia
9420	CYP7B1	HP:0100508	Abnormality of vitamin metabolism
9420	CYP7B1	HP:0008151	Prolonged prothrombin time
9420	CYP7B1	HP:0003487	Babinski sign
9420	CYP7B1	HP:0003484	Upper limb muscle weakness
9420	CYP7B1	HP:0002166	Impaired vibration sensation in the lower limbs
9420	CYP7B1	HP:0002174	Postural tremor
9420	CYP7B1	HP:0003596	Middle age onset
9420	CYP7B1	HP:0002240	Hepatomegaly
9420	CYP7B1	HP:0011985	Acholic stools
9420	CYP7B1	HP:0003676	Progressive
9420	CYP7B1	HP:0003623	Neonatal onset
9420	CYP7B1	HP:0003621	Juvenile onset
9420	CYP7B1	HP:0006858	Impaired distal proprioception
9420	CYP7B1	HP:0006827	Atrophy of the spinal cord
9420	CYP7B1	HP:0000639	Nystagmus
9420	CYP7B1	HP:0000648	Optic atrophy
9420	CYP7B1	HP:0031956	Elevated circulating aspartate aminotransferase concentration
9420	CYP7B1	HP:0006986	Upper limb spasticity
9420	CYP7B1	HP:0031964	Elevated circulating alanine aminotransferase concentration
9420	CYP7B1	HP:0011463	Childhood onset
9420	CYP7B1	HP:0011462	Young adult onset
9420	CYP7B1	HP:0011448	Ankle clonus
9420	CYP7B1	HP:0009129	Upper limb amyotrophy
9420	CYP7B1	HP:0003107	Abnormal circulating cholesterol concentration
9420	CYP7B1	HP:0034294	Ductal bile plugs
9420	CYP7B1	HP:0003155	Elevated circulating alkaline phosphatase concentration
9420	CYP7B1	HP:0012852	Hepatic bridging fibrosis
9420	CYP7B1	HP:0030890	Hyperintensity of cerebral white matter on MRI
9420	CYP7B1	HP:0000952	Jaundice
9420	CYP7B1	HP:0001508	Failure to thrive
9420	CYP7B1	HP:0002904	Hyperbilirubinemia
9420	CYP7B1	HP:0000407	Sensorineural hearing impairment
9420	CYP7B1	HP:0001744	Splenomegaly
9420	CYP7B1	HP:0001761	Pes cavus
9420	CYP7B1	HP:0000518	Cataract
9423	NTN1	HP:0002492	Morphological abnormality of the corticospinal tract
9423	NTN1	HP:0025101	Dysgenesis of the hippocampus
9423	NTN1	HP:0001274	Agenesis of corpus callosum
9423	NTN1	HP:0001256	Intellectual disability, mild
9423	NTN1	HP:0000044	Hypogonadotropic hypogonadism
9423	NTN1	HP:0001328	Specific learning disability
9423	NTN1	HP:0001335	Bimanual synkinesia
9423	NTN1	HP:0000006	Autosomal dominant inheritance
9423	NTN1	HP:0003326	Myalgia
9423	NTN1	HP:0003388	Easy fatigability
9423	NTN1	HP:0007010	Poor fine motor coordination
9423	NTN1	HP:0002312	Clumsiness
9423	NTN1	HP:0100021	Cerebral palsy
9423	NTN1	HP:0100022	Abnormality of movement
9423	NTN1	HP:0002949	Fused cervical vertebrae
9426	CDY2A	HP:0000027	Azoospermia
9426	CDY2A	HP:0001450	Y-linked inheritance
9426	CDY2A	HP:0011462	Young adult onset
9426	CDY2A	HP:0003251	Male infertility
9427	ECEL1	HP:0001181	Adducted thumb
9427	ECEL1	HP:0002553	Highly arched eyebrow
9427	ECEL1	HP:0000059	Hypoplastic labia majora
9427	ECEL1	HP:0001374	Congenital hip dislocation
9427	ECEL1	HP:0006201	Hypermobility of distal interphalangeal joints
9427	ECEL1	HP:0000007	Autosomal recessive inheritance
9427	ECEL1	HP:0002650	Scoliosis
9427	ECEL1	HP:0000194	Open mouth
9427	ECEL1	HP:0000160	Narrow mouth
9427	ECEL1	HP:0000175	Cleft palate
9427	ECEL1	HP:0003307	Hyperlordosis
9427	ECEL1	HP:0003577	Congenital onset
9427	ECEL1	HP:0004322	Short stature
9427	ECEL1	HP:0003199	Decreased muscle mass
9427	ECEL1	HP:0006467	Limited shoulder movement
9427	ECEL1	HP:0006389	Limited knee flexion
9427	ECEL1	HP:0000221	Furrowed tongue
9427	ECEL1	HP:0030001	Lagophthalmos
9427	ECEL1	HP:0012385	Camptodactyly
9427	ECEL1	HP:0002996	Limited elbow movement
9427	ECEL1	HP:0000347	Micrognathia
9427	ECEL1	HP:0000311	Round face
9427	ECEL1	HP:0002987	Elbow flexion contracture
9427	ECEL1	HP:0012473	Tongue atrophy
9427	ECEL1	HP:0000463	Anteverted nares
9427	ECEL1	HP:0000470	Short neck
9427	ECEL1	HP:0000414	Bulbous nose
9427	ECEL1	HP:0001762	Talipes equinovarus
9427	ECEL1	HP:0001848	Calcaneovalgus deformity
9427	ECEL1	HP:0000508	Ptosis
9439	MED23	HP:0002474	Expressive language delay
9439	MED23	HP:0001249	Intellectual disability
9439	MED23	HP:0001266	Choreoathetosis
9439	MED23	HP:0001257	Spasticity
9439	MED23	HP:0001332	Dystonia
9439	MED23	HP:0033725	Thin corpus callosum
9439	MED23	HP:0000007	Autosomal recessive inheritance
9439	MED23	HP:0008936	Axial hypotonia
9439	MED23	HP:0012110	Hypoplasia of the pons
9439	MED23	HP:0002187	Intellectual disability, profound
9439	MED23	HP:0003577	Congenital onset
9439	MED23	HP:0011968	Feeding difficulties
9439	MED23	HP:0002360	Sleep disturbance
9439	MED23	HP:0000737	Irritability
9439	MED23	HP:0000252	Microcephaly
9439	MED23	HP:0001629	Ventricular septal defect
9439	MED23	HP:0001631	Atrial septal defect
9440	MED17	HP:0001250	Seizure
9440	MED17	HP:0001263	Global developmental delay
9440	MED17	HP:0001257	Spasticity
9440	MED17	HP:0002521	Hypsarrhythmia
9440	MED17	HP:0002506	Diffuse cerebral atrophy
9440	MED17	HP:0001347	Hyperreflexia
9440	MED17	HP:0000007	Autosomal recessive inheritance
9440	MED17	HP:0002015	Dysphagia
9440	MED17	HP:0002169	Clonus
9440	MED17	HP:0011968	Feeding difficulties
9440	MED17	HP:0003676	Progressive
9440	MED17	HP:0000253	Progressive microcephaly
9440	MED17	HP:0001508	Failure to thrive
9440	MED17	HP:0005484	Secondary microcephaly
9442	MED27	HP:0009879	Simplified gyral pattern
9442	MED27	HP:0001272	Cerebellar atrophy
9442	MED27	HP:0001270	Motor delay
9442	MED27	HP:0001250	Seizure
9442	MED27	HP:0001252	Hypotonia
9442	MED27	HP:0001249	Intellectual disability
9442	MED27	HP:0001263	Global developmental delay
9442	MED27	HP:0001257	Spasticity
9442	MED27	HP:0002553	Highly arched eyebrow
9442	MED27	HP:0001332	Dystonia
9442	MED27	HP:0033725	Thin corpus callosum
9442	MED27	HP:0000012	Urinary urgency
9442	MED27	HP:0000007	Autosomal recessive inheritance
9442	MED27	HP:0002007	Frontal bossing
9442	MED27	HP:0002059	Cerebral atrophy
9442	MED27	HP:0003429	CNS hypomyelination
9442	MED27	HP:0010535	Sleep apnea
9442	MED27	HP:0002263	Exaggerated cupid's bow
9442	MED27	HP:0002236	Frontal upsweep of hair
9442	MED27	HP:0011968	Feeding difficulties
9442	MED27	HP:0002376	Developmental regression
9442	MED27	HP:0002307	Drooling
9442	MED27	HP:0000687	Widely spaced teeth
9442	MED27	HP:0000664	Synophrys
9442	MED27	HP:0000750	Delayed speech and language development
9442	MED27	HP:0000252	Microcephaly
9442	MED27	HP:0000369	Low-set ears
9442	MED27	HP:0000316	Hypertelorism
9442	MED27	HP:0005280	Depressed nasal bridge
9442	MED27	HP:0000463	Anteverted nares
9442	MED27	HP:0000518	Cataract
9442	MED27	HP:0000527	Long eyelashes
9442	MED27	HP:0000592	Blue sclerae
9445	ITM2B	HP:0001115	Posterior polar cataract
9445	ITM2B	HP:0001276	Hypertonia
9445	ITM2B	HP:0001251	Ataxia
9445	ITM2B	HP:0001257	Spasticity
9445	ITM2B	HP:0001337	Tremor
9445	ITM2B	HP:0000006	Autosomal dominant inheritance
9445	ITM2B	HP:0007663	Reduced visual acuity
9445	ITM2B	HP:0002080	Intention tremor
9445	ITM2B	HP:0002063	Rigidity
9445	ITM2B	HP:0002185	Neurofibrillary tangles
9445	ITM2B	HP:0003596	Middle age onset
9445	ITM2B	HP:0011970	Cerebral amyloid angiopathy
9445	ITM2B	HP:0002344	Progressive neurologic deterioration
9445	ITM2B	HP:0000613	Photophobia
9445	ITM2B	HP:0000603	Central scotoma
9445	ITM2B	HP:0000662	Nyctalopia
9445	ITM2B	HP:0000726	Dementia
9445	ITM2B	HP:0000709	Psychosis
9445	ITM2B	HP:0011462	Young adult onset
9445	ITM2B	HP:0000365	Hearing impairment
9445	ITM2B	HP:0000556	Retinal dystrophy
9445	ITM2B	HP:0000543	Optic disc pallor
9451	EIF2AK3	HP:0002480	Hepatic encephalopathy
9451	EIF2AK3	HP:0001276	Hypertonia
9451	EIF2AK3	HP:0100827	Lymphocytosis
9451	EIF2AK3	HP:0001250	Seizure
9451	EIF2AK3	HP:0001249	Intellectual disability
9451	EIF2AK3	HP:0001263	Global developmental delay
9451	EIF2AK3	HP:0006110	Shortening of all middle phalanges of the fingers
9451	EIF2AK3	HP:0410263	Brain imaging abnormality
9451	EIF2AK3	HP:0000083	Renal insufficiency
9451	EIF2AK3	HP:0001392	Abnormality of the liver
9451	EIF2AK3	HP:0002656	Epiphyseal dysplasia
9451	EIF2AK3	HP:0001324	Muscle weakness
9451	EIF2AK3	HP:0002654	Multiple epiphyseal dysplasia
9451	EIF2AK3	HP:0002673	Coxa valga
9451	EIF2AK3	HP:0000007	Autosomal recessive inheritance
9451	EIF2AK3	HP:0002652	Skeletal dysplasia
9451	EIF2AK3	HP:0001498	Carpal bone hypoplasia
9451	EIF2AK3	HP:0006274	Reduced pancreatic beta cells
9451	EIF2AK3	HP:0002719	Recurrent infections
9451	EIF2AK3	HP:0003311	Hypoplasia of the odontoid process
9451	EIF2AK3	HP:0003307	Hyperlordosis
9451	EIF2AK3	HP:0003301	Irregular vertebral endplates
9451	EIF2AK3	HP:0008134	Irregular tarsal ossification
9451	EIF2AK3	HP:0011787	Central hypothyroidism
9451	EIF2AK3	HP:0010585	Small epiphyses
9451	EIF2AK3	HP:0003593	Infantile onset
9451	EIF2AK3	HP:0002240	Hepatomegaly
9451	EIF2AK3	HP:0002355	Difficulty walking
9451	EIF2AK3	HP:0100651	Type I diabetes mellitus
9451	EIF2AK3	HP:0004236	Irregular carpal bones
9451	EIF2AK3	HP:0012622	Chronic kidney disease
9451	EIF2AK3	HP:0001944	Dehydration
9451	EIF2AK3	HP:0001945	Fever
9451	EIF2AK3	HP:0001993	Ketoacidosis
9451	EIF2AK3	HP:0001987	Hyperammonemia
9451	EIF2AK3	HP:0004325	Decreased body weight
9451	EIF2AK3	HP:0004322	Short stature
9451	EIF2AK3	HP:0003073	Hypoalbuminemia
9451	EIF2AK3	HP:0003071	Flattened epiphysis
9451	EIF2AK3	HP:0010168	Ivory epiphyses of the toes
9451	EIF2AK3	HP:0000926	Platyspondyly
9451	EIF2AK3	HP:0004467	Preauricular pit
9451	EIF2AK3	HP:0000857	Neonatal insulin-dependent diabetes mellitus
9451	EIF2AK3	HP:0000831	Insulin-resistant diabetes mellitus
9451	EIF2AK3	HP:0000821	Hypothyroidism
9451	EIF2AK3	HP:0010234	Ivory epiphyses of the phalanges of the hand
9451	EIF2AK3	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
9451	EIF2AK3	HP:0100255	Metaphyseal dysplasia
9451	EIF2AK3	HP:0000952	Jaundice
9451	EIF2AK3	HP:0000939	Osteoporosis
9451	EIF2AK3	HP:0002827	Hip dislocation
9451	EIF2AK3	HP:0000252	Microcephaly
9451	EIF2AK3	HP:0001552	Barrel-shaped chest
9451	EIF2AK3	HP:0000218	High palate
9451	EIF2AK3	HP:0002857	Genu valgum
9451	EIF2AK3	HP:0001541	Ascites
9451	EIF2AK3	HP:0002868	Narrow iliac wing
9451	EIF2AK3	HP:0030043	Hip subluxation
9451	EIF2AK3	HP:0001510	Growth delay
9451	EIF2AK3	HP:0006554	Acute hepatic failure
9451	EIF2AK3	HP:0002910	Elevated hepatic transaminase
9451	EIF2AK3	HP:0002904	Hyperbilirubinemia
9451	EIF2AK3	HP:0002902	Hyponatremia
9451	EIF2AK3	HP:0000316	Hypertelorism
9451	EIF2AK3	HP:0001631	Atrial septal defect
9451	EIF2AK3	HP:0001738	Exocrine pancreatic insufficiency
9451	EIF2AK3	HP:0001719	Double outlet right ventricle
9451	EIF2AK3	HP:0005280	Depressed nasal bridge
9451	EIF2AK3	HP:0000486	Strabismus
9451	EIF2AK3	HP:0000582	Upslanted palpebral fissure
9451	EIF2AK3	HP:0001891	Iron deficiency anemia
9451	EIF2AK3	HP:0001875	Neutropenia
9453	GGPS1	HP:0001270	Motor delay
9453	GGPS1	HP:0033686	Mitochondrial hypertrophy
9453	GGPS1	HP:0002505	Loss of ambulation
9453	GGPS1	HP:0032341	Reduced forced vital capacity
9453	GGPS1	HP:0003805	Rimmed vacuoles
9453	GGPS1	HP:0000007	Autosomal recessive inheritance
9453	GGPS1	HP:0002650	Scoliosis
9453	GGPS1	HP:0002033	Poor suck
9453	GGPS1	HP:0003323	Progressive muscle weakness
9453	GGPS1	HP:0002093	Respiratory insufficiency
9453	GGPS1	HP:0008222	Female infertility
9453	GGPS1	HP:0008209	Premature ovarian insufficiency
9453	GGPS1	HP:0003577	Congenital onset
9453	GGPS1	HP:0003687	Centrally nucleated skeletal muscle fibers
9453	GGPS1	HP:0004322	Short stature
9453	GGPS1	HP:0003236	Elevated circulating creatine kinase concentration
9453	GGPS1	HP:0001558	Decreased fetal movement
9453	GGPS1	HP:0001508	Failure to thrive
9453	GGPS1	HP:0001612	Weak cry
9453	GGPS1	HP:0000407	Sensorineural hearing impairment
9453	GGPS1	HP:0025717	Skeletal muscle autophagosome accumulation
9455	HOMER2	HP:0000006	Autosomal dominant inheritance
9455	HOMER2	HP:0000407	Sensorineural hearing impairment
9464	HAND2	HP:0100578	Lipoatrophy
9464	HAND2	HP:0003457	EMG abnormality
9464	HAND2	HP:0003198	Myopathy
9464	HAND2	HP:0003236	Elevated circulating creatine kinase concentration
9464	HAND2	HP:0000982	Palmoplantar keratoderma
9464	HAND2	HP:0001644	Dilated cardiomyopathy
9464	HAND2	HP:0000407	Sensorineural hearing impairment
9464	HAND2	HP:0001874	Abnormality of neutrophils
9469	CHST3	HP:0001156	Brachydactyly
9469	CHST3	HP:0008593	Prominent antitragus
9469	CHST3	HP:0009880	Broad distal phalanges of all fingers
9469	CHST3	HP:0009882	Short distal phalanx of finger
9469	CHST3	HP:0008551	Microtia
9469	CHST3	HP:0001290	Generalized hypotonia
9469	CHST3	HP:0001270	Motor delay
9469	CHST3	HP:0001252	Hypotonia
9469	CHST3	HP:0001249	Intellectual disability
9469	CHST3	HP:0100864	Short femoral neck
9469	CHST3	HP:0006067	Multiple carpal ossification centers
9469	CHST3	HP:0002553	Highly arched eyebrow
9469	CHST3	HP:0001222	Spatulate thumbs
9469	CHST3	HP:0002515	Waddling gait
9469	CHST3	HP:0003834	Shoulder dislocation
9469	CHST3	HP:0006099	Metacarpophalangeal joint hyperextensibility
9469	CHST3	HP:0001371	Flexion contracture
9469	CHST3	HP:0001373	Joint dislocation
9469	CHST3	HP:0001382	Joint hypermobility
9469	CHST3	HP:0000023	Inguinal hernia
9469	CHST3	HP:0001363	Craniosynostosis
9469	CHST3	HP:0012095	Multiple joint dislocation
9469	CHST3	HP:0002655	Spondyloepiphyseal dysplasia
9469	CHST3	HP:0000007	Autosomal recessive inheritance
9469	CHST3	HP:0002650	Scoliosis
9469	CHST3	HP:0002616	Aortic root aneurysm
9469	CHST3	HP:0008905	Rhizomelia
9469	CHST3	HP:0000160	Narrow mouth
9469	CHST3	HP:0000175	Cleft palate
9469	CHST3	HP:0005021	Bilateral elbow dislocations
9469	CHST3	HP:0007598	Bilateral single transverse palmar creases
9469	CHST3	HP:0002757	Recurrent fractures
9469	CHST3	HP:0002751	Kyphoscoliosis
9469	CHST3	HP:0002750	Delayed skeletal maturation
9469	CHST3	HP:0002007	Frontal bossing
9469	CHST3	HP:0003312	Abnormal form of the vertebral bodies
9469	CHST3	HP:0003301	Irregular vertebral endplates
9469	CHST3	HP:0011800	Midface retrusion
9469	CHST3	HP:0002092	Pulmonary arterial hypertension
9469	CHST3	HP:0010446	Tricuspid stenosis
9469	CHST3	HP:0003417	Coronal cleft vertebrae
9469	CHST3	HP:0002194	Delayed gross motor development
9469	CHST3	HP:0002162	Low posterior hairline
9469	CHST3	HP:0100490	Camptodactyly of finger
9469	CHST3	HP:0010585	Small epiphyses
9469	CHST3	HP:0010582	Irregular epiphyses
9469	CHST3	HP:0003577	Congenital onset
9469	CHST3	HP:0003521	Disproportionate short-trunk short stature
9469	CHST3	HP:0004976	Knee dislocation
9469	CHST3	HP:0001090	Abnormally large globe
9469	CHST3	HP:0009811	Abnormality of the elbow
9469	CHST3	HP:0009803	Short phalanx of finger
9469	CHST3	HP:0001087	Developmental glaucoma
9469	CHST3	HP:0008450	Narrow vertebral interpedicular distance
9469	CHST3	HP:0004298	Abnormality of the abdominal wall
9469	CHST3	HP:0000646	Amblyopia
9469	CHST3	HP:0010049	Short metacarpal
9469	CHST3	HP:0000684	Delayed eruption of teeth
9469	CHST3	HP:0000691	Microdontia
9469	CHST3	HP:0000687	Widely spaced teeth
9469	CHST3	HP:0004322	Short stature
9469	CHST3	HP:0005616	Accelerated skeletal maturation
9469	CHST3	HP:0030680	Abnormality of cardiovascular system morphology
9469	CHST3	HP:0003071	Flattened epiphysis
9469	CHST3	HP:0003083	Dislocated radial head
9469	CHST3	HP:0003051	Enlarged metaphyses
9469	CHST3	HP:0003037	Enlarged joints
9469	CHST3	HP:0003031	Ulnar bowing
9469	CHST3	HP:0003042	Elbow dislocation
9469	CHST3	HP:0003040	Arthropathy
9469	CHST3	HP:0003015	Flared metaphysis
9469	CHST3	HP:0003022	Hypoplasia of the ulna
9469	CHST3	HP:0000768	Pectus carinatum
9469	CHST3	HP:0009179	Deviation of the 5th finger
9469	CHST3	HP:0000774	Narrow chest
9469	CHST3	HP:0000776	Congenital diaphragmatic hernia
9469	CHST3	HP:0000914	Shield chest
9469	CHST3	HP:0000926	Platyspondyly
9469	CHST3	HP:0003184	Decreased hip abduction
9469	CHST3	HP:0000878	11 pairs of ribs
9469	CHST3	HP:0003093	Limited hip extension
9469	CHST3	HP:0003090	Hypoplasia of the capital femoral epiphysis
9469	CHST3	HP:0045075	Sparse eyebrow
9469	CHST3	HP:0000974	Hyperextensible skin
9469	CHST3	HP:0000973	Cutis laxa
9469	CHST3	HP:0000939	Osteoporosis
9469	CHST3	HP:0000938	Osteopenia
9469	CHST3	HP:0040160	Generalized osteoporosis
9469	CHST3	HP:0000274	Small face
9469	CHST3	HP:0006471	Fixed elbow flexion
9469	CHST3	HP:0006462	Generalized bone demineralization
9469	CHST3	HP:0002816	Genu recurvatum
9469	CHST3	HP:0002829	Arthralgia
9469	CHST3	HP:0002827	Hip dislocation
9469	CHST3	HP:0002808	Kyphosis
9469	CHST3	HP:0000238	Hydrocephalus
9469	CHST3	HP:0000248	Brachycephaly
9469	CHST3	HP:0001552	Barrel-shaped chest
9469	CHST3	HP:0000218	High palate
9469	CHST3	HP:0002857	Genu valgum
9469	CHST3	HP:0012368	Flat face
9469	CHST3	HP:0002938	Lumbar hyperlordosis
9469	CHST3	HP:0002945	Intervertebral space narrowing
9469	CHST3	HP:0005180	Tricuspid regurgitation
9469	CHST3	HP:0000365	Hearing impairment
9469	CHST3	HP:0000369	Low-set ears
9469	CHST3	HP:0000343	Long philtrum
9469	CHST3	HP:0000337	Broad forehead
9469	CHST3	HP:0000347	Micrognathia
9469	CHST3	HP:0001650	Aortic valve stenosis
9469	CHST3	HP:0002982	Tibial bowing
9469	CHST3	HP:0001647	Bicuspid aortic valve
9469	CHST3	HP:0000316	Hypertelorism
9469	CHST3	HP:0001642	Pulmonic stenosis
9469	CHST3	HP:0002974	Radioulnar synostosis
9469	CHST3	HP:0001659	Aortic regurgitation
9469	CHST3	HP:0002987	Elbow flexion contracture
9469	CHST3	HP:0001653	Mitral regurgitation
9469	CHST3	HP:0001655	Patent foramen ovale
9469	CHST3	HP:0001629	Ventricular septal defect
9469	CHST3	HP:0001623	Breech presentation
9469	CHST3	HP:0001640	Cardiomegaly
9469	CHST3	HP:0000308	Microretrognathia
9469	CHST3	HP:0002967	Cubitus valgus
9469	CHST3	HP:0001631	Atrial septal defect
9469	CHST3	HP:0001634	Mitral valve prolapse
9469	CHST3	HP:0006610	Wide intermamillary distance
9469	CHST3	HP:0001718	Mitral stenosis
9469	CHST3	HP:0001712	Left ventricular hypertrophy
9469	CHST3	HP:0001714	Ventricular hypertrophy
9469	CHST3	HP:0005280	Depressed nasal bridge
9469	CHST3	HP:0000494	Downslanted palpebral fissures
9469	CHST3	HP:0000470	Short neck
9469	CHST3	HP:0000465	Webbed neck
9469	CHST3	HP:0001772	Talipes equinovalgus
9469	CHST3	HP:0001763	Pes planus
9469	CHST3	HP:0001762	Talipes equinovarus
9469	CHST3	HP:0001840	Metatarsus adductus
9469	CHST3	HP:0001852	Sandal gap
9469	CHST3	HP:0000520	Proptosis
9469	CHST3	HP:0001822	Hallux valgus
9469	CHST3	HP:0000592	Blue sclerae
9469	CHST3	HP:0011220	Prominent forehead
9469	CHST3	HP:0000574	Thick eyebrow
9469	CHST3	HP:0000565	Esotropia
9469	CHST3	HP:0000540	Hypermetropia
9474	ATG5	HP:0001251	Ataxia
9474	ATG5	HP:0001260	Dysarthria
9474	ATG5	HP:0001263	Global developmental delay
9474	ATG5	HP:0001348	Brisk reflexes
9474	ATG5	HP:0000007	Autosomal recessive inheritance
9474	ATG5	HP:0001310	Dysmetria
9474	ATG5	HP:0001321	Cerebellar hypoplasia
9474	ATG5	HP:0002078	Truncal ataxia
9474	ATG5	HP:0003487	Babinski sign
9474	ATG5	HP:0003593	Infantile onset
9474	ATG5	HP:0003680	Nonprogressive
9474	ATG5	HP:0000666	Horizontal nystagmus
9474	ATG5	HP:0031936	Delayed ability to walk
9479	MAPK8IP1	HP:0000006	Autosomal dominant inheritance
9479	MAPK8IP1	HP:0005978	Type II diabetes mellitus
9479	MAPK8IP1	HP:0003584	Late onset
9479	MAPK8IP1	HP:0031819	Increased waist to hip ratio
9479	MAPK8IP1	HP:0000855	Insulin resistance
9487	PIGL	HP:0001176	Large hands
9487	PIGL	HP:0002488	Acute leukemia
9487	PIGL	HP:0001195	Single umbilical artery
9487	PIGL	HP:0010882	Pulmonary valve atresia
9487	PIGL	HP:0010864	Intellectual disability, severe
9487	PIGL	HP:0010850	EEG with spike-wave complexes
9487	PIGL	HP:0001290	Generalized hypotonia
9487	PIGL	HP:0001288	Gait disturbance
9487	PIGL	HP:0001250	Seizure
9487	PIGL	HP:0001252	Hypotonia
9487	PIGL	HP:0001251	Ataxia
9487	PIGL	HP:0001249	Intellectual disability
9487	PIGL	HP:0001263	Global developmental delay
9487	PIGL	HP:0002562	Low-set nipples
9487	PIGL	HP:0002557	Hypoplastic nipples
9487	PIGL	HP:0002558	Supernumerary nipple
9487	PIGL	HP:0006118	Shortening of all distal phalanges of the fingers
9487	PIGL	HP:0008760	Violent behavior
9487	PIGL	HP:0002553	Highly arched eyebrow
9487	PIGL	HP:0000081	Duplicated collecting system
9487	PIGL	HP:0000098	Tall stature
9487	PIGL	HP:0000077	Abnormality of the kidney
9487	PIGL	HP:0000074	Ureteropelvic junction obstruction
9487	PIGL	HP:0001385	Hip dysplasia
9487	PIGL	HP:0002696	Abnormal parietal bone morphology
9487	PIGL	HP:0001357	Plagiocephaly
9487	PIGL	HP:0007477	Abnormal dermatoglyphics
9487	PIGL	HP:0000007	Autosomal recessive inheritance
9487	PIGL	HP:0001336	Myoclonus
9487	PIGL	HP:0002650	Scoliosis
9487	PIGL	HP:0001315	Reduced tendon reflexes
9487	PIGL	HP:0000179	Thick lower lip vermilion
9487	PIGL	HP:0000193	Bifid uvula
9487	PIGL	HP:0000164	Abnormality of the dentition
9487	PIGL	HP:0000175	Cleft palate
9487	PIGL	HP:0002797	Osteolysis
9487	PIGL	HP:0000154	Wide mouth
9487	PIGL	HP:0008947	Infantile muscular hypotonia
9487	PIGL	HP:0000126	Hydronephrosis
9487	PIGL	HP:0002714	Downturned corners of mouth
9487	PIGL	HP:0002007	Frontal bossing
9487	PIGL	HP:0002069	Bilateral tonic-clonic seizure
9487	PIGL	HP:0002059	Cerebral atrophy
9487	PIGL	HP:0005930	Abnormal epiphysis morphology
9487	PIGL	HP:0009473	Joint contracture of the hand
9487	PIGL	HP:0002120	Cerebral cortical atrophy
9487	PIGL	HP:0002136	Broad-based gait
9487	PIGL	HP:0002251	Aganglionic megacolon
9487	PIGL	HP:0002213	Fine hair
9487	PIGL	HP:0100760	Clubbing of toes
9487	PIGL	HP:0002392	EEG with polyspike wave complexes
9487	PIGL	HP:0002342	Intellectual disability, moderate
9487	PIGL	HP:0001009	Telangiectasia
9487	PIGL	HP:0010804	Tented upper lip vermilion
9487	PIGL	HP:0200042	Skin ulcer
9487	PIGL	HP:0010783	Erythema
9487	PIGL	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
9487	PIGL	HP:0004969	Peripheral pulmonary artery stenosis
9487	PIGL	HP:0004209	Clinodactyly of the 5th finger
9487	PIGL	HP:0006808	Cerebral hypomyelination
9487	PIGL	HP:0004279	Short palm
9487	PIGL	HP:0000637	Long palpebral fissure
9487	PIGL	HP:0000691	Microdontia
9487	PIGL	HP:0000687	Widely spaced teeth
9487	PIGL	HP:0000657	Oculomotor apraxia
9487	PIGL	HP:0000668	Hypodontia
9487	PIGL	HP:0001999	Abnormal facial shape
9487	PIGL	HP:0000767	Pectus excavatum
9487	PIGL	HP:0100040	Broad 2nd toe
9487	PIGL	HP:0000717	Autism
9487	PIGL	HP:0000729	Autistic behavior
9487	PIGL	HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes
9487	PIGL	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
9487	PIGL	HP:0011471	Gastrostomy tube feeding in infancy
9487	PIGL	HP:0003155	Elevated circulating alkaline phosphatase concentration
9487	PIGL	HP:0000972	Palmoplantar hyperkeratosis
9487	PIGL	HP:0000962	Hyperkeratosis
9487	PIGL	HP:0008070	Sparse hair
9487	PIGL	HP:0008064	Ichthyosis
9487	PIGL	HP:0040194	Increased head circumference
9487	PIGL	HP:0040195	Decreased head circumference
9487	PIGL	HP:0000286	Epicanthus
9487	PIGL	HP:0000280	Coarse facial features
9487	PIGL	HP:0000289	Broad philtrum
9487	PIGL	HP:0002827	Hip dislocation
9487	PIGL	HP:0030084	Clinodactyly
9487	PIGL	HP:0000248	Brachycephaly
9487	PIGL	HP:0000218	High palate
9487	PIGL	HP:0001545	Anteriorly placed anus
9487	PIGL	HP:0001562	Oligohydramnios
9487	PIGL	HP:0001507	Growth abnormality
9487	PIGL	HP:0001520	Large for gestational age
9487	PIGL	HP:0001510	Growth delay
9487	PIGL	HP:0011069	Supernumerary tooth
9487	PIGL	HP:0012385	Camptodactyly
9487	PIGL	HP:0000378	Cupped ear
9487	PIGL	HP:0000396	Overfolded helix
9487	PIGL	HP:0000391	Thickened helices
9487	PIGL	HP:0006482	Abnormality of dental morphology
9487	PIGL	HP:0000365	Hearing impairment
9487	PIGL	HP:0000356	Abnormality of the outer ear
9487	PIGL	HP:0001669	Transposition of the great arteries
9487	PIGL	HP:0000347	Micrognathia
9487	PIGL	HP:0000316	Hypertelorism
9487	PIGL	HP:0000311	Round face
9487	PIGL	HP:0000322	Short philtrum
9487	PIGL	HP:0001629	Ventricular septal defect
9487	PIGL	HP:0001636	Tetralogy of Fallot
9487	PIGL	HP:0000303	Mandibular prognathia
9487	PIGL	HP:0007957	Corneal opacity
9487	PIGL	HP:0006660	Aplastic clavicle
9487	PIGL	HP:0000405	Conductive hearing impairment
9487	PIGL	HP:0005280	Depressed nasal bridge
9487	PIGL	HP:0000486	Strabismus
9487	PIGL	HP:0000480	Retinal coloboma
9487	PIGL	HP:0012471	Thick vermilion border
9487	PIGL	HP:0001792	Small nail
9487	PIGL	HP:0000457	Depressed nasal ridge
9487	PIGL	HP:0000470	Short neck
9487	PIGL	HP:0000465	Webbed neck
9487	PIGL	HP:0001773	Short foot
9487	PIGL	HP:0000414	Bulbous nose
9487	PIGL	HP:0000431	Wide nasal bridge
9487	PIGL	HP:0000426	Prominent nasal bridge
9487	PIGL	HP:0006721	Acute lymphoblastic leukemia
9487	PIGL	HP:0006709	Aplasia/Hypoplasia of the nipples
9487	PIGL	HP:0000508	Ptosis
9487	PIGL	HP:0001833	Long foot
9487	PIGL	HP:0000582	Upslanted palpebral fissure
9487	PIGL	HP:0000594	Shallow anterior chamber
9487	PIGL	HP:0011220	Prominent forehead
9487	PIGL	HP:0000565	Esotropia
9487	PIGL	HP:0000540	Hypermetropia
9488	PIGB	HP:0001182	Tapered finger
9488	PIGB	HP:0001199	Triphalangeal thumb
9488	PIGB	HP:0009909	Uplifted earlobe
9488	PIGB	HP:0009882	Short distal phalanx of finger
9488	PIGB	HP:0001290	Generalized hypotonia
9488	PIGB	HP:0001284	Areflexia
9488	PIGB	HP:0001250	Seizure
9488	PIGB	HP:0001265	Hyporeflexia
9488	PIGB	HP:0001263	Global developmental delay
9488	PIGB	HP:0002500	Abnormal cerebral white matter morphology
9488	PIGB	HP:0000007	Autosomal recessive inheritance
9488	PIGB	HP:0000154	Wide mouth
9488	PIGB	HP:0025404	Abnormal visual fixation
9488	PIGB	HP:0002079	Hypoplasia of the corpus callosum
9488	PIGB	HP:0003477	Peripheral axonal neuropathy
9488	PIGB	HP:0002119	Ventriculomegaly
9488	PIGB	HP:0002126	Polymicrogyria
9488	PIGB	HP:0011968	Feeding difficulties
9488	PIGB	HP:0010804	Tented upper lip vermilion
9488	PIGB	HP:0010808	Protruding tongue
9488	PIGB	HP:0007141	Sensorimotor neuropathy
9488	PIGB	HP:0003155	Elevated circulating alkaline phosphatase concentration
9488	PIGB	HP:0000280	Coarse facial features
9488	PIGB	HP:0000293	Full cheeks
9488	PIGB	HP:0000218	High palate
9488	PIGB	HP:0001522	Death in infancy
9488	PIGB	HP:0001508	Failure to thrive
9488	PIGB	HP:0001510	Growth delay
9488	PIGB	HP:0000377	Abnormal pinna morphology
9488	PIGB	HP:0000396	Overfolded helix
9488	PIGB	HP:0000365	Hearing impairment
9488	PIGB	HP:0000358	Posteriorly rotated ears
9488	PIGB	HP:0000369	Low-set ears
9488	PIGB	HP:0000341	Narrow forehead
9488	PIGB	HP:0000343	Long philtrum
9488	PIGB	HP:0000347	Micrognathia
9488	PIGB	HP:0000319	Smooth philtrum
9488	PIGB	HP:0000316	Hypertelorism
9488	PIGB	HP:0000307	Pointed chin
9488	PIGB	HP:0001792	Small nail
9488	PIGB	HP:0012402	Increased urine alpha-ketoglutarate concentration
9488	PIGB	HP:0001762	Talipes equinovarus
9488	PIGB	HP:0000431	Wide nasal bridge
9488	PIGB	HP:0000520	Proptosis
9488	PIGB	HP:0000505	Visual impairment
9488	PIGB	HP:0000582	Upslanted palpebral fissure
9488	PIGB	HP:0000543	Optic disc pallor
9493	KIF23	HP:0025196	Increased total iron binding capacity
9493	KIF23	HP:0010972	Anemia of inadequate production
9493	KIF23	HP:0025354	Abnormal cellular phenotype
9493	KIF23	HP:0000006	Autosomal dominant inheritance
9493	KIF23	HP:0012130	Abnormal erythroid lineage cell morphology
9493	KIF23	HP:0025435	Increased circulating lactate dehydrogenase concentration
9493	KIF23	HP:0003452	Increased serum iron
9493	KIF23	HP:0011891	Post-partum hemorrhage
9493	KIF23	HP:0002249	Melena
9493	KIF23	HP:0004810	Congenital hypoplastic anemia
9493	KIF23	HP:0002315	Headache
9493	KIF23	HP:0025035	Abnormal proerythroblast morphology
9493	KIF23	HP:0020181	Reduced haptoglobin level
9493	KIF23	HP:0005518	Increased mean corpuscular volume
9493	KIF23	HP:0001972	Macrocytic anemia
9493	KIF23	HP:0001903	Anemia
9493	KIF23	HP:0004322	Short stature
9493	KIF23	HP:0004447	Poikilocytosis
9493	KIF23	HP:0000980	Pallor
9493	KIF23	HP:0000952	Jaundice
9493	KIF23	HP:0000225	Gingival bleeding
9493	KIF23	HP:0012378	Fatigue
9493	KIF23	HP:0002910	Elevated hepatic transaminase
9493	KIF23	HP:0002904	Hyperbilirubinemia
9493	KIF23	HP:0030140	Oral cavity bleeding
9493	KIF23	HP:0011273	Anisocytosis
9493	KIF23	HP:0012543	Hemosiderinuria
9493	KIF23	HP:0001877	Abnormal erythrocyte morphology
9496	TBX4	HP:0100807	Long fingers
9496	TBX4	HP:0001252	Hypotonia
9496	TBX4	HP:0002553	Highly arched eyebrow
9496	TBX4	HP:0008801	Hypoplasia of the lesser trochanter
9496	TBX4	HP:0001376	Limitation of joint mobility
9496	TBX4	HP:0001385	Hip dysplasia
9496	TBX4	HP:0000049	Shawl scrotum
9496	TBX4	HP:0001347	Hyperreflexia
9496	TBX4	HP:0008784	Wide capital femoral epiphyses
9496	TBX4	HP:0000007	Autosomal recessive inheritance
9496	TBX4	HP:0000006	Autosomal dominant inheritance
9496	TBX4	HP:0002650	Scoliosis
9496	TBX4	HP:0002644	Abnormal pelvic girdle bone morphology
9496	TBX4	HP:0000160	Narrow mouth
9496	TBX4	HP:0000175	Cleft palate
9496	TBX4	HP:0007598	Bilateral single transverse palmar creases
9496	TBX4	HP:0002020	Gastroesophageal reflux
9496	TBX4	HP:0002007	Frontal bossing
9496	TBX4	HP:0011803	Bifid nose
9496	TBX4	HP:0002094	Dyspnea
9496	TBX4	HP:0002092	Pulmonary arterial hypertension
9496	TBX4	HP:0003370	Flat capital femoral epiphysis
9496	TBX4	HP:0005930	Abnormal epiphysis morphology
9496	TBX4	HP:0010511	Long toe
9496	TBX4	HP:0008368	Tarsal synostosis
9496	TBX4	HP:0009827	Amelia
9496	TBX4	HP:0004209	Clinodactyly of the 5th finger
9496	TBX4	HP:0011343	Moderate global developmental delay
9496	TBX4	HP:0011342	Mild global developmental delay
9496	TBX4	HP:0000687	Widely spaced teeth
9496	TBX4	HP:0004322	Short stature
9496	TBX4	HP:0003065	Patellar hypoplasia
9496	TBX4	HP:0005682	Talocalcaneal synostosis
9496	TBX4	HP:0000750	Delayed speech and language development
9496	TBX4	HP:0000708	Atypical behavior
9496	TBX4	HP:0003182	Shallow acetabular fossae
9496	TBX4	HP:0003097	Short femur
9496	TBX4	HP:0003279	Coxa magna
9496	TBX4	HP:0000960	Sacral dimple
9496	TBX4	HP:0000286	Epicanthus
9496	TBX4	HP:0001597	Abnormality of the nail
9496	TBX4	HP:0000272	Malar flattening
9496	TBX4	HP:0006443	Patellar aplasia
9496	TBX4	HP:0002815	Abnormality of the knee
9496	TBX4	HP:0002812	Coxa vara
9496	TBX4	HP:0002803	Congenital contracture
9496	TBX4	HP:0000252	Microcephaly
9496	TBX4	HP:0000218	High palate
9496	TBX4	HP:0001508	Failure to thrive
9496	TBX4	HP:0001511	Intrauterine growth retardation
9496	TBX4	HP:0000389	Chronic otitis media
9496	TBX4	HP:0006498	Aplasia/Hypoplasia of the patella
9496	TBX4	HP:0000365	Hearing impairment
9496	TBX4	HP:0002999	Patellar dislocation
9496	TBX4	HP:0000347	Micrognathia
9496	TBX4	HP:0000316	Hypertelorism
9496	TBX4	HP:0001643	Patent ductus arteriosus
9496	TBX4	HP:0001631	Atrial septal defect
9496	TBX4	HP:0000498	Blepharitis
9496	TBX4	HP:0005280	Depressed nasal bridge
9496	TBX4	HP:0000486	Strabismus
9496	TBX4	HP:0001763	Pes planus
9496	TBX4	HP:0000414	Bulbous nose
9496	TBX4	HP:0000411	Protruding ear
9496	TBX4	HP:0001762	Talipes equinovarus
9496	TBX4	HP:0000527	Long eyelashes
9496	TBX4	HP:0001852	Sandal gap
9496	TBX4	HP:0001800	Hypoplastic toenails
9499	MYOT	HP:0002460	Distal muscle weakness
9499	MYOT	HP:0003749	Pelvic girdle muscle weakness
9499	MYOT	HP:0003736	Autophagic vacuoles
9499	MYOT	HP:0003701	Proximal muscle weakness
9499	MYOT	HP:0003715	Myofibrillar myopathy
9499	MYOT	HP:0001271	Polyneuropathy
9499	MYOT	HP:0001284	Areflexia
9499	MYOT	HP:0001265	Hyporeflexia
9499	MYOT	HP:0001260	Dysarthria
9499	MYOT	HP:0002540	Inability to walk
9499	MYOT	HP:0000006	Autosomal dominant inheritance
9499	MYOT	HP:0002600	Hyporeflexia of lower limbs
9499	MYOT	HP:0002795	Abnormal respiratory system physiology
9499	MYOT	HP:0002792	Reduced vital capacity
9499	MYOT	HP:0003326	Myalgia
9499	MYOT	HP:0002015	Dysphagia
9499	MYOT	HP:0002093	Respiratory insufficiency
9499	MYOT	HP:0003458	EMG: myopathic abnormalities
9499	MYOT	HP:0003581	Adult onset
9499	MYOT	HP:0003552	Muscle stiffness
9499	MYOT	HP:0003551	Difficulty climbing stairs
9499	MYOT	HP:0003547	Shoulder girdle muscle weakness
9499	MYOT	HP:0003557	Increased variability in muscle fiber diameter
9499	MYOT	HP:0003698	Difficulty standing
9499	MYOT	HP:0003693	Distal amyotrophy
9499	MYOT	HP:0002355	Difficulty walking
9499	MYOT	HP:0003677	Slowly progressive
9499	MYOT	HP:0009830	Peripheral neuropathy
9499	MYOT	HP:0009073	Progressive proximal muscle weakness
9499	MYOT	HP:0009063	Progressive distal muscle weakness
9499	MYOT	HP:0009027	Foot dorsiflexor weakness
9499	MYOT	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies
9499	MYOT	HP:0003236	Elevated circulating creatine kinase concentration
9499	MYOT	HP:0100297	Increased endomysial connective tissue
9499	MYOT	HP:0000297	Facial hypotonia
9499	MYOT	HP:0002828	Multiple joint contractures
9499	MYOT	HP:0005085	Limited knee flexion/extension
9499	MYOT	HP:0006376	Limited elbow flexion
9499	MYOT	HP:0002878	Respiratory failure
9499	MYOT	HP:0001611	Hypernasal speech
9499	MYOT	HP:0001638	Cardiomyopathy
9499	MYOT	HP:0012496	Reduced maximal inspiratory pressure
9499	MYOT	HP:0030226	Abnormal muscle fiber myotilin
9499	MYOT	HP:0001771	Achilles tendon contracture
9499	MYOT	HP:0006794	Loss of ability to walk in first decade
9499	MYOT	HP:0012548	Fatty replacement of skeletal muscle
9499	MYOT	HP:0012515	Hip flexor weakness
9508	ADAMTS3	HP:0008572	External ear malformation
9508	ADAMTS3	HP:0100835	Benign neoplasm of the central nervous system
9508	ADAMTS3	HP:0001250	Seizure
9508	ADAMTS3	HP:0001249	Intellectual disability
9508	ADAMTS3	HP:0006101	Finger syndactyly
9508	ADAMTS3	HP:0000086	Ectopic kidney
9508	ADAMTS3	HP:0000085	Horseshoe kidney
9508	ADAMTS3	HP:0001363	Craniosynostosis
9508	ADAMTS3	HP:0000034	Hydrocele testis
9508	ADAMTS3	HP:0000007	Autosomal recessive inheritance
9508	ADAMTS3	HP:0001302	Pachygyria
9508	ADAMTS3	HP:0000160	Narrow mouth
9508	ADAMTS3	HP:0002716	Lymphadenopathy
9508	ADAMTS3	HP:0002024	Malabsorption
9508	ADAMTS3	HP:0002021	Pyloric stenosis
9508	ADAMTS3	HP:0002093	Respiratory insufficiency
9508	ADAMTS3	HP:0002076	Migraine
9508	ADAMTS3	HP:0002108	Spontaneous pneumothorax
9508	ADAMTS3	HP:0100490	Camptodactyly of finger
9508	ADAMTS3	HP:0011830	Abnormal oral mucosa morphology
9508	ADAMTS3	HP:0003577	Congenital onset
9508	ADAMTS3	HP:0002243	Protein-losing enteropathy
9508	ADAMTS3	HP:0002215	Sparse axillary hair
9508	ADAMTS3	HP:0002205	Recurrent respiratory infections
9508	ADAMTS3	HP:0100764	Lymphangioma
9508	ADAMTS3	HP:0011968	Feeding difficulties
9508	ADAMTS3	HP:0001055	Erysipelas
9508	ADAMTS3	HP:0001004	Lymphedema
9508	ADAMTS3	HP:0009804	Tooth agenesis
9508	ADAMTS3	HP:0000684	Delayed eruption of teeth
9508	ADAMTS3	HP:0001999	Abnormal facial shape
9508	ADAMTS3	HP:0000664	Synophrys
9508	ADAMTS3	HP:0004313	Decreased circulating antibody level
9508	ADAMTS3	HP:0100026	Arteriovenous malformation
9508	ADAMTS3	HP:0000774	Narrow chest
9508	ADAMTS3	HP:0010310	Chylothorax
9508	ADAMTS3	HP:0000286	Epicanthus
9508	ADAMTS3	HP:0000278	Retrognathia
9508	ADAMTS3	HP:0000212	Gingival overgrowth
9508	ADAMTS3	HP:0001561	Polyhydramnios
9508	ADAMTS3	HP:0001530	Mild postnatal growth retardation
9508	ADAMTS3	HP:0001541	Ascites
9508	ADAMTS3	HP:0011069	Supernumerary tooth
9508	ADAMTS3	HP:0012368	Flat face
9508	ADAMTS3	HP:0006521	Pulmonary lymphangiectasia
9508	ADAMTS3	HP:0002901	Hypocalcemia
9508	ADAMTS3	HP:0006482	Abnormality of dental morphology
9508	ADAMTS3	HP:0001698	Pericardial effusion
9508	ADAMTS3	HP:0000369	Low-set ears
9508	ADAMTS3	HP:0000337	Broad forehead
9508	ADAMTS3	HP:0000316	Hypertelorism
9508	ADAMTS3	HP:0000322	Short philtrum
9508	ADAMTS3	HP:0000405	Conductive hearing impairment
9508	ADAMTS3	HP:0005280	Depressed nasal bridge
9508	ADAMTS3	HP:0000486	Strabismus
9508	ADAMTS3	HP:0000463	Anteverted nares
9508	ADAMTS3	HP:0001789	Hydrops fetalis
9508	ADAMTS3	HP:0001744	Splenomegaly
9508	ADAMTS3	HP:0001760	Abnormal foot morphology
9508	ADAMTS3	HP:0000431	Wide nasal bridge
9508	ADAMTS3	HP:0000501	Glaucoma
9508	ADAMTS3	HP:0000582	Upslanted palpebral fissure
9508	ADAMTS3	HP:0001888	Lymphopenia
9509	ADAMTS2	HP:0001270	Motor delay
9509	ADAMTS2	HP:0001252	Hypotonia
9509	ADAMTS2	HP:0007392	Excessive wrinkled skin
9509	ADAMTS2	HP:0001373	Joint dislocation
9509	ADAMTS2	HP:0001367	Abnormal joint morphology
9509	ADAMTS2	HP:0001385	Hip dysplasia
9509	ADAMTS2	HP:0001388	Joint laxity
9509	ADAMTS2	HP:0001387	Joint stiffness
9509	ADAMTS2	HP:0000023	Inguinal hernia
9509	ADAMTS2	HP:0008897	Postnatal growth retardation
9509	ADAMTS2	HP:0002673	Coxa valga
9509	ADAMTS2	HP:0000007	Autosomal recessive inheritance
9509	ADAMTS2	HP:0002650	Scoliosis
9509	ADAMTS2	HP:0001476	Delayed closure of the anterior fontanelle
9509	ADAMTS2	HP:0002748	Rickets
9509	ADAMTS2	HP:0002749	Osteomalacia
9509	ADAMTS2	HP:0002020	Gastroesophageal reflux
9509	ADAMTS2	HP:0002036	Hiatus hernia
9509	ADAMTS2	HP:0100541	Femoral hernia
9509	ADAMTS2	HP:0010529	Echolalia
9509	ADAMTS2	HP:0003593	Infantile onset
9509	ADAMTS2	HP:0003577	Congenital onset
9509	ADAMTS2	HP:0004876	Spontaneous neonatal pneumothorax
9509	ADAMTS2	HP:0100790	Hernia
9509	ADAMTS2	HP:0200094	Frontal open bite
9509	ADAMTS2	HP:0010648	Dermal translucency
9509	ADAMTS2	HP:0003510	Severe short stature
9509	ADAMTS2	HP:0001058	Poor wound healing
9509	ADAMTS2	HP:0002381	Aphasia
9509	ADAMTS2	HP:0001030	Fragile skin
9509	ADAMTS2	HP:0001027	Soft, doughy skin
9509	ADAMTS2	HP:0001007	Hirsutism
9509	ADAMTS2	HP:0001001	Abnormality of subcutaneous fat tissue
9509	ADAMTS2	HP:0009826	Limb undergrowth
9509	ADAMTS2	HP:0001075	Atrophic scars
9509	ADAMTS2	HP:0009803	Short phalanx of finger
9509	ADAMTS2	HP:0100633	Esophagitis
9509	ADAMTS2	HP:0100699	Scarring
9509	ADAMTS2	HP:0010749	Blepharochalasis
9509	ADAMTS2	HP:0002300	Mutism
9509	ADAMTS2	HP:0000668	Hypodontia
9509	ADAMTS2	HP:0004322	Short stature
9509	ADAMTS2	HP:0005692	Joint hyperflexibility
9509	ADAMTS2	HP:0003010	Prolonged bleeding time
9509	ADAMTS2	HP:0005743	Avascular necrosis of the capital femoral epiphysis
9509	ADAMTS2	HP:0000978	Bruising susceptibility
9509	ADAMTS2	HP:0000974	Hyperextensible skin
9509	ADAMTS2	HP:0000963	Thin skin
9509	ADAMTS2	HP:0000939	Osteoporosis
9509	ADAMTS2	HP:0000938	Osteopenia
9509	ADAMTS2	HP:0000286	Epicanthus
9509	ADAMTS2	HP:0000278	Retrognathia
9509	ADAMTS2	HP:0000260	Wide anterior fontanel
9509	ADAMTS2	HP:0002812	Coxa vara
9509	ADAMTS2	HP:0002827	Hip dislocation
9509	ADAMTS2	HP:0001582	Redundant skin
9509	ADAMTS2	HP:0000222	Gingival hyperkeratosis
9509	ADAMTS2	HP:0000212	Gingival overgrowth
9509	ADAMTS2	HP:0000232	Everted lower lip vermilion
9509	ADAMTS2	HP:0000225	Gingival bleeding
9509	ADAMTS2	HP:0001537	Umbilical hernia
9509	ADAMTS2	HP:0000369	Low-set ears
9509	ADAMTS2	HP:0000347	Micrognathia
9509	ADAMTS2	HP:0001622	Premature birth
9509	ADAMTS2	HP:0005332	Recurrent mandibular subluxations
9509	ADAMTS2	HP:0005280	Depressed nasal bridge
9509	ADAMTS2	HP:0012471	Thick vermilion border
9509	ADAMTS2	HP:0000494	Downslanted palpebral fissures
9509	ADAMTS2	HP:0001788	Premature rupture of membranes
9509	ADAMTS2	HP:0000506	Telecanthus
9509	ADAMTS2	HP:0001831	Short toe
9509	ADAMTS2	HP:0000592	Blue sclerae
9509	ADAMTS2	HP:0000545	Myopia
9512	PMPCB	HP:0002421	Poor head control
9512	PMPCB	HP:0001272	Cerebellar atrophy
9512	PMPCB	HP:0001250	Seizure
9512	PMPCB	HP:0001252	Hypotonia
9512	PMPCB	HP:0001251	Ataxia
9512	PMPCB	HP:0001249	Intellectual disability
9512	PMPCB	HP:0001263	Global developmental delay
9512	PMPCB	HP:0001257	Spasticity
9512	PMPCB	HP:0007366	Atrophy/Degeneration affecting the brainstem
9512	PMPCB	HP:0002540	Inability to walk
9512	PMPCB	HP:0001332	Dystonia
9512	PMPCB	HP:0001344	Absent speech
9512	PMPCB	HP:0000007	Autosomal recessive inheritance
9512	PMPCB	HP:0001310	Dysmetria
9512	PMPCB	HP:0002151	Increased serum lactate
9512	PMPCB	HP:0003593	Infantile onset
9512	PMPCB	HP:0200134	Epileptic encephalopathy
9512	PMPCB	HP:0011968	Feeding difficulties
9512	PMPCB	HP:0002376	Developmental regression
9512	PMPCB	HP:0003676	Progressive
9512	PMPCB	HP:0002352	Leukoencephalopathy
9512	PMPCB	HP:0000648	Optic atrophy
9512	PMPCB	HP:0011463	Childhood onset
9512	PMPCB	HP:0001508	Failure to thrive
9512	PMPCB	HP:0000365	Hearing impairment
9512	PMPCB	HP:0005484	Secondary microcephaly
9512	PMPCB	HP:0000572	Visual loss
9516	LITAF	HP:0002460	Distal muscle weakness
9516	LITAF	HP:0007230	Decreased distal sensory nerve action potential
9516	LITAF	HP:0002403	Positive Romberg sign
9516	LITAF	HP:0001271	Polyneuropathy
9516	LITAF	HP:0001251	Ataxia
9516	LITAF	HP:0001265	Hyporeflexia
9516	LITAF	HP:0000006	Autosomal dominant inheritance
9516	LITAF	HP:0033748	Hypoesthesia
9516	LITAF	HP:0002066	Gait ataxia
9516	LITAF	HP:0003383	Onion bulb formation
9516	LITAF	HP:0003382	Hypertrophic nerve changes
9516	LITAF	HP:0003481	Segmental peripheral demyelination/remyelination
9516	LITAF	HP:0003431	Decreased motor nerve conduction velocity
9516	LITAF	HP:0003401	Paresthesia
9516	LITAF	HP:0003596	Middle age onset
9516	LITAF	HP:0003693	Distal amyotrophy
9516	LITAF	HP:0007141	Sensorimotor neuropathy
9516	LITAF	HP:0003621	Juvenile onset
9516	LITAF	HP:0000762	Decreased nerve conduction velocity
9516	LITAF	HP:0002936	Distal sensory impairment
9516	LITAF	HP:0001761	Pes cavus
9517	SPTLC2	HP:0002460	Distal muscle weakness
9517	SPTLC2	HP:0007328	Impaired pain sensation
9517	SPTLC2	HP:0031060	Impaired ability to dress oneself
9517	SPTLC2	HP:0007350	Hyperreflexia in upper limbs
9517	SPTLC2	HP:0002540	Inability to walk
9517	SPTLC2	HP:0033660	Hand paresthesia
9517	SPTLC2	HP:0007550	Hypohidrosis or hyperhidrosis
9517	SPTLC2	HP:0007460	Autoamputation of digits
9517	SPTLC2	HP:0001324	Muscle weakness
9517	SPTLC2	HP:0000006	Autosomal dominant inheritance
9517	SPTLC2	HP:0002600	Hyporeflexia of lower limbs
9517	SPTLC2	HP:0008959	Distal upper limb muscle weakness
9517	SPTLC2	HP:0002756	Pathologic fracture
9517	SPTLC2	HP:0002754	Osteomyelitis
9517	SPTLC2	HP:0002020	Gastroesophageal reflux
9517	SPTLC2	HP:0003376	Steppage gait
9517	SPTLC2	HP:0002141	Gait imbalance
9517	SPTLC2	HP:0003431	Decreased motor nerve conduction velocity
9517	SPTLC2	HP:0003409	Distal sensory impairment of all modalities
9517	SPTLC2	HP:0002166	Impaired vibration sensation in the lower limbs
9517	SPTLC2	HP:0003596	Middle age onset
9517	SPTLC2	HP:0002270	Abnormality of the autonomic nervous system
9517	SPTLC2	HP:0007021	Pain insensitivity
9517	SPTLC2	HP:0007002	Motor axonal neuropathy
9517	SPTLC2	HP:0007078	Decreased amplitude of sensory action potentials
9517	SPTLC2	HP:0001058	Poor wound healing
9517	SPTLC2	HP:0003693	Distal amyotrophy
9517	SPTLC2	HP:0001026	Penetrating foot ulcers
9517	SPTLC2	HP:0010834	Trophic changes related to pain
9517	SPTLC2	HP:0010829	Impaired temperature sensation
9517	SPTLC2	HP:0200042	Skin ulcer
9517	SPTLC2	HP:0007141	Sensorimotor neuropathy
9517	SPTLC2	HP:0009763	Limb pain
9517	SPTLC2	HP:0003621	Juvenile onset
9517	SPTLC2	HP:0009053	Distal lower limb muscle weakness
9517	SPTLC2	HP:0009027	Foot dorsiflexor weakness
9517	SPTLC2	HP:0006937	Impaired distal tactile sensation
9517	SPTLC2	HP:0012735	Cough
9517	SPTLC2	HP:0011463	Childhood onset
9517	SPTLC2	HP:0011462	Young adult onset
9517	SPTLC2	HP:0100287	EMG: slow motor conduction
9517	SPTLC2	HP:0000970	Anhidrosis
9517	SPTLC2	HP:0000962	Hyperkeratosis
9517	SPTLC2	HP:0002821	Neuropathic arthropathy
9517	SPTLC2	HP:0002936	Distal sensory impairment
9517	SPTLC2	HP:0000365	Hearing impairment
9517	SPTLC2	HP:0012534	Dysesthesia
9524	TECR	HP:0001249	Intellectual disability
9524	TECR	HP:0000007	Autosomal recessive inheritance
9524	TECR	HP:0000189	Narrow palate
9524	TECR	HP:0002080	Intention tremor
9524	TECR	HP:0003593	Infantile onset
9524	TECR	HP:0000750	Delayed speech and language development
9526	MPDU1	HP:0010864	Intellectual disability, severe
9526	MPDU1	HP:0001276	Hypertonia
9526	MPDU1	HP:0001250	Seizure
9526	MPDU1	HP:0001252	Hypotonia
9526	MPDU1	HP:0001251	Ataxia
9526	MPDU1	HP:0002521	Hypsarrhythmia
9526	MPDU1	HP:0001371	Flexion contracture
9526	MPDU1	HP:0001344	Absent speech
9526	MPDU1	HP:0000007	Autosomal recessive inheritance
9526	MPDU1	HP:0025474	Erythematous plaque
9526	MPDU1	HP:0008947	Infantile muscular hypotonia
9526	MPDU1	HP:0002059	Cerebral atrophy
9526	MPDU1	HP:0040288	Nasogastric tube feeding
9526	MPDU1	HP:0002119	Ventriculomegaly
9526	MPDU1	HP:0003593	Infantile onset
9526	MPDU1	HP:0011968	Feeding difficulties
9526	MPDU1	HP:0001019	Erythroderma
9526	MPDU1	HP:0008529	Absence of acoustic reflex
9526	MPDU1	HP:0003623	Neonatal onset
9526	MPDU1	HP:0003642	Type I transferrin isoform profile
9526	MPDU1	HP:0000639	Nystagmus
9526	MPDU1	HP:0000648	Optic atrophy
9526	MPDU1	HP:0011344	Severe global developmental delay
9526	MPDU1	HP:0000803	Renal cortical cysts
9526	MPDU1	HP:0012704	Widened subarachnoid space
9526	MPDU1	HP:0000824	Decreased response to growth hormone stimulation test
9526	MPDU1	HP:0003236	Elevated circulating creatine kinase concentration
9526	MPDU1	HP:0003256	Abnormality of the coagulation cascade
9526	MPDU1	HP:0000958	Dry skin
9526	MPDU1	HP:0000964	Eczema
9526	MPDU1	HP:0000962	Hyperkeratosis
9526	MPDU1	HP:0008064	Ichthyosis
9526	MPDU1	HP:0040189	Scaling skin
9526	MPDU1	HP:0000260	Wide anterior fontanel
9526	MPDU1	HP:0000242	Parietal bossing
9526	MPDU1	HP:0000252	Microcephaly
9526	MPDU1	HP:0000233	Thin vermilion border
9526	MPDU1	HP:0001522	Death in infancy
9526	MPDU1	HP:0001508	Failure to thrive
9526	MPDU1	HP:0012379	Abnormal circulating enzyme concentration or activity
9526	MPDU1	HP:0007965	Undetectable visual evoked potentials
9526	MPDU1	HP:0000486	Strabismus
9526	MPDU1	HP:0005478	Prominent frontal sinuses
9526	MPDU1	HP:0030353	Decreased serum insulin-like growth factor 1
9529	BAG5	HP:0033534	Increased circulating brain natriuretic peptide concentration
9529	BAG5	HP:0000007	Autosomal recessive inheritance
9529	BAG5	HP:0033755	Increased left ventricular end-diastolic volume
9529	BAG5	HP:0100578	Lipoatrophy
9529	BAG5	HP:0003457	EMG abnormality
9529	BAG5	HP:0004756	Ventricular tachycardia
9529	BAG5	HP:0003621	Juvenile onset
9529	BAG5	HP:0012666	Severely reduced left ventricular ejection fraction
9529	BAG5	HP:0011462	Young adult onset
9529	BAG5	HP:0003198	Myopathy
9529	BAG5	HP:0003236	Elevated circulating creatine kinase concentration
9529	BAG5	HP:0000982	Palmoplantar keratoderma
9529	BAG5	HP:0001644	Dilated cardiomyopathy
9529	BAG5	HP:0001663	Ventricular fibrillation
9529	BAG5	HP:0001635	Congestive heart failure
9529	BAG5	HP:0000407	Sensorineural hearing impairment
9529	BAG5	HP:0001874	Abnormality of neutrophils
9531	BAG3	HP:0002460	Distal muscle weakness
9531	BAG3	HP:0003701	Proximal muscle weakness
9531	BAG3	HP:0003700	Generalized amyotrophy
9531	BAG3	HP:0003715	Myofibrillar myopathy
9531	BAG3	HP:0001265	Hyporeflexia
9531	BAG3	HP:0007340	Lower limb muscle weakness
9531	BAG3	HP:0032341	Reduced forced vital capacity
9531	BAG3	HP:0000006	Autosomal dominant inheritance
9531	BAG3	HP:0002650	Scoliosis
9531	BAG3	HP:0033755	Increased left ventricular end-diastolic volume
9531	BAG3	HP:0003327	Axial muscle weakness
9531	BAG3	HP:0003306	Spinal rigidity
9531	BAG3	HP:0003324	Generalized muscle weakness
9531	BAG3	HP:0002093	Respiratory insufficiency
9531	BAG3	HP:0002091	Restrictive ventilatory defect
9531	BAG3	HP:0003388	Easy fatigability
9531	BAG3	HP:0100578	Lipoatrophy
9531	BAG3	HP:0003447	Axonal loss
9531	BAG3	HP:0003457	EMG abnormality
9531	BAG3	HP:0003458	EMG: myopathic abnormalities
9531	BAG3	HP:0003596	Middle age onset
9531	BAG3	HP:0003584	Late onset
9531	BAG3	HP:0003560	Muscular dystrophy
9531	BAG3	HP:0010628	Facial palsy
9531	BAG3	HP:0003691	Scapular winging
9531	BAG3	HP:0003678	Rapidly progressive
9531	BAG3	HP:0007108	Demyelinating peripheral neuropathy
9531	BAG3	HP:0003621	Juvenile onset
9531	BAG3	HP:0011463	Childhood onset
9531	BAG3	HP:0011462	Young adult onset
9531	BAG3	HP:0003198	Myopathy
9531	BAG3	HP:0003236	Elevated circulating creatine kinase concentration
9531	BAG3	HP:0000982	Palmoplantar keratoderma
9531	BAG3	HP:0008081	Pes valgus
9531	BAG3	HP:0006380	Knee flexion contracture
9531	BAG3	HP:0030051	Tip-toe gait
9531	BAG3	HP:0006597	Diaphragmatic paralysis
9531	BAG3	HP:0002936	Distal sensory impairment
9531	BAG3	HP:0002943	Thoracic scoliosis
9531	BAG3	HP:0001644	Dilated cardiomyopathy
9531	BAG3	HP:0001653	Mitral regurgitation
9531	BAG3	HP:0001639	Hypertrophic cardiomyopathy
9531	BAG3	HP:0001635	Congestive heart failure
9531	BAG3	HP:0001723	Restrictive cardiomyopathy
9531	BAG3	HP:0000407	Sensorineural hearing impairment
9531	BAG3	HP:0001761	Pes cavus
9531	BAG3	HP:0001874	Abnormality of neutrophils
9533	POLR1C	HP:0008551	Microtia
9533	POLR1C	HP:0002415	Leukodystrophy
9533	POLR1C	HP:0001272	Cerebellar atrophy
9533	POLR1C	HP:0001251	Ataxia
9533	POLR1C	HP:0001249	Intellectual disability
9533	POLR1C	HP:0001263	Global developmental delay
9533	POLR1C	HP:0001257	Spasticity
9533	POLR1C	HP:0002575	Tracheoesophageal fistula
9533	POLR1C	HP:0008736	Hypoplasia of penis
9533	POLR1C	HP:0000046	Small scrotum
9533	POLR1C	HP:0000028	Cryptorchidism
9533	POLR1C	HP:0000007	Autosomal recessive inheritance
9533	POLR1C	HP:0001337	Tremor
9533	POLR1C	HP:0001336	Myoclonus
9533	POLR1C	HP:0002652	Skeletal dysplasia
9533	POLR1C	HP:0000164	Abnormality of the dentition
9533	POLR1C	HP:0000160	Narrow mouth
9533	POLR1C	HP:0000162	Glossoptosis
9533	POLR1C	HP:0000175	Cleft palate
9533	POLR1C	HP:0000143	Rectovaginal fistula
9533	POLR1C	HP:0000154	Wide mouth
9533	POLR1C	HP:0005990	Thyroid hypoplasia
9533	POLR1C	HP:0002007	Frontal bossing
9533	POLR1C	HP:0002006	Facial cleft
9533	POLR1C	HP:0011800	Midface retrusion
9533	POLR1C	HP:0002084	Encephalocele
9533	POLR1C	HP:0002093	Respiratory insufficiency
9533	POLR1C	HP:0002079	Hypoplasia of the corpus callosum
9533	POLR1C	HP:0003429	CNS hypomyelination
9533	POLR1C	HP:0003593	Infantile onset
9533	POLR1C	HP:0003577	Congenital onset
9533	POLR1C	HP:0010669	Hypoplasia of the zygomatic bone
9533	POLR1C	HP:0002381	Aphasia
9533	POLR1C	HP:0010807	Open bite
9533	POLR1C	HP:0009804	Tooth agenesis
9533	POLR1C	HP:0009795	Branchial fistula
9533	POLR1C	HP:0000643	Blepharospasm
9533	POLR1C	HP:0000612	Iris coloboma
9533	POLR1C	HP:0000625	Eyelid coloboma
9533	POLR1C	HP:0011386	Narrow internal auditory canal
9533	POLR1C	HP:0000682	Abnormal dental enamel morphology
9533	POLR1C	HP:0000652	Lower eyelid coloboma
9533	POLR1C	HP:0000668	Hypodontia
9533	POLR1C	HP:0001999	Abnormal facial shape
9533	POLR1C	HP:0030680	Abnormality of cardiovascular system morphology
9533	POLR1C	HP:0031936	Delayed ability to walk
9533	POLR1C	HP:0004348	Abnormality of bone mineral density
9533	POLR1C	HP:0011463	Childhood onset
9533	POLR1C	HP:0000778	Hypoplasia of the thymus
9533	POLR1C	HP:0005701	Multiple enchondromatosis
9533	POLR1C	HP:0000925	Abnormality of the vertebral column
9533	POLR1C	HP:0000834	Abnormality of the adrenal glands
9533	POLR1C	HP:0000815	Hypergonadotropic hypogonadism
9533	POLR1C	HP:0000278	Retrognathia
9533	POLR1C	HP:0000294	Low anterior hairline
9533	POLR1C	HP:0001595	Abnormal hair morphology
9533	POLR1C	HP:0000272	Malar flattening
9533	POLR1C	HP:0000248	Brachycephaly
9533	POLR1C	HP:0000218	High palate
9533	POLR1C	HP:0000204	Cleft upper lip
9533	POLR1C	HP:0001508	Failure to thrive
9533	POLR1C	HP:0000384	Preauricular skin tag
9533	POLR1C	HP:0006482	Abnormality of dental morphology
9533	POLR1C	HP:0000370	Abnormality of the middle ear
9533	POLR1C	HP:0000347	Micrognathia
9533	POLR1C	HP:0000316	Hypertelorism
9533	POLR1C	HP:0001643	Patent ductus arteriosus
9533	POLR1C	HP:0000327	Hypoplasia of the maxilla
9533	POLR1C	HP:0005321	Mandibulofacial dysostosis
9533	POLR1C	HP:0000405	Conductive hearing impairment
9533	POLR1C	HP:0000486	Strabismus
9533	POLR1C	HP:0000494	Downslanted palpebral fissures
9533	POLR1C	HP:0000453	Choanal atresia
9533	POLR1C	HP:0000431	Wide nasal bridge
9533	POLR1C	HP:0000518	Cataract
9533	POLR1C	HP:0000505	Visual impairment
9533	POLR1C	HP:0000561	Absent eyelashes
9533	POLR1C	HP:0011219	Short face
9533	POLR1C	HP:0000568	Microphthalmia
9533	POLR1C	HP:0000545	Myopia
9555	MACROH2A1	HP:0001156	Brachydactyly
9555	MACROH2A1	HP:0001231	Abnormal fingernail morphology
9555	MACROH2A1	HP:0001387	Joint stiffness
9555	MACROH2A1	HP:0009832	Abnormal distal phalanx morphology of finger
9555	MACROH2A1	HP:0004209	Clinodactyly of the 5th finger
9555	MACROH2A1	HP:0003063	Abnormality of the humerus
9555	MACROH2A1	HP:0003042	Elbow dislocation
9555	MACROH2A1	HP:0040071	Abnormal morphology of ulna
9555	MACROH2A1	HP:0000256	Macrocephaly
9555	MACROH2A1	HP:0005048	Synostosis of carpal bones
9555	MACROH2A1	HP:0006501	Aplasia/Hypoplasia of the radius
9562	MINPP1	HP:0010862	Delayed fine motor development
9562	MINPP1	HP:0001276	Hypertonia
9562	MINPP1	HP:0001250	Seizure
9562	MINPP1	HP:0001252	Hypotonia
9562	MINPP1	HP:0001249	Intellectual disability
9562	MINPP1	HP:0001263	Global developmental delay
9562	MINPP1	HP:0001257	Spasticity
9562	MINPP1	HP:0008665	Clitoral hypertrophy
9562	MINPP1	HP:0002510	Spastic tetraplegia
9562	MINPP1	HP:0002509	Limb hypertonia
9562	MINPP1	HP:0002500	Abnormal cerebral white matter morphology
9562	MINPP1	HP:0000062	Ambiguous genitalia
9562	MINPP1	HP:0000054	Micropenis
9562	MINPP1	HP:0001347	Hyperreflexia
9562	MINPP1	HP:0000028	Cryptorchidism
9562	MINPP1	HP:0033725	Thin corpus callosum
9562	MINPP1	HP:0000010	Recurrent urinary tract infections
9562	MINPP1	HP:0001344	Absent speech
9562	MINPP1	HP:0000007	Autosomal recessive inheritance
9562	MINPP1	HP:0000006	Autosomal dominant inheritance
9562	MINPP1	HP:0001336	Myoclonus
9562	MINPP1	HP:0002653	Bone pain
9562	MINPP1	HP:0002650	Scoliosis
9562	MINPP1	HP:0001321	Cerebellar hypoplasia
9562	MINPP1	HP:0000151	Aplasia of the uterus
9562	MINPP1	HP:0008936	Axial hypotonia
9562	MINPP1	HP:0012110	Hypoplasia of the pons
9562	MINPP1	HP:0000133	Gonadal dysgenesis
9562	MINPP1	HP:0002757	Recurrent fractures
9562	MINPP1	HP:0001428	Somatic mutation
9562	MINPP1	HP:0002733	Abnormal lymph node morphology
9562	MINPP1	HP:0002730	Chronic noninfectious lymphadenopathy
9562	MINPP1	HP:0005994	Nodular goiter
9562	MINPP1	HP:0002015	Dysphagia
9562	MINPP1	HP:0002060	Abnormal cerebral morphology
9562	MINPP1	HP:0002079	Hypoplasia of the corpus callosum
9562	MINPP1	HP:0002071	Abnormality of extrapyramidal motor function
9562	MINPP1	HP:0002120	Cerebral cortical atrophy
9562	MINPP1	HP:0002119	Ventriculomegaly
9562	MINPP1	HP:0002104	Apnea
9562	MINPP1	HP:0002194	Delayed gross motor development
9562	MINPP1	HP:0002176	Spinal cord compression
9562	MINPP1	HP:0002380	Fasciculations
9562	MINPP1	HP:0002365	Hypoplasia of the brainstem
9562	MINPP1	HP:0003623	Neonatal onset
9562	MINPP1	HP:0000639	Nystagmus
9562	MINPP1	HP:0000648	Optic atrophy
9562	MINPP1	HP:0003003	Colon cancer
9562	MINPP1	HP:0006955	Olivopontocerebellar hypoplasia
9562	MINPP1	HP:0004305	Involuntary movements
9562	MINPP1	HP:0030674	Antenatal onset
9562	MINPP1	HP:0012856	Abnormal scrotal rugation
9562	MINPP1	HP:0000853	Goiter
9562	MINPP1	HP:0003202	Skeletal muscle atrophy
9562	MINPP1	HP:0040198	Non-medullary thyroid carcinoma
9562	MINPP1	HP:0012288	Neoplasm of head and neck
9562	MINPP1	HP:0000286	Epicanthus
9562	MINPP1	HP:0000252	Microcephaly
9562	MINPP1	HP:0000218	High palate
9562	MINPP1	HP:0000215	Thick upper lip vermilion
9562	MINPP1	HP:0002895	Papillary thyroid carcinoma
9562	MINPP1	HP:0006528	Chronic lung disease
9562	MINPP1	HP:0030197	Fatigable weakness of skeletal muscles
9562	MINPP1	HP:0000369	Low-set ears
9562	MINPP1	HP:0000347	Micrognathia
9562	MINPP1	HP:0000400	Macrotia
9562	MINPP1	HP:0005280	Depressed nasal bridge
9562	MINPP1	HP:0030261	Absent penis
9562	MINPP1	HP:0030260	Microphallus
9562	MINPP1	HP:0000448	Prominent nose
9562	MINPP1	HP:0000431	Wide nasal bridge
9562	MINPP1	HP:0006731	Follicular thyroid carcinoma
9562	MINPP1	HP:3000037	Abnormal neck blood vessel morphology
9562	MINPP1	HP:0006766	Papillary renal cell carcinoma
9562	MINPP1	HP:0000518	Cataract
9562	MINPP1	HP:0000508	Ptosis
9562	MINPP1	HP:0000582	Upslanted palpebral fissure
9562	MINPP1	HP:0012531	Pain
9563	H6PD	HP:0000007	Autosomal recessive inheritance
9563	H6PD	HP:0003596	Middle age onset
9563	H6PD	HP:0003581	Adult onset
9563	H6PD	HP:0001061	Acne
9563	H6PD	HP:0001007	Hirsutism
9563	H6PD	HP:0003621	Juvenile onset
9563	H6PD	HP:0000789	Infertility
9563	H6PD	HP:0000876	Oligomenorrhea
9563	H6PD	HP:0000826	Precocious puberty
9563	H6PD	HP:0001596	Alopecia
9563	H6PD	HP:0001513	Obesity
9563	H6PD	HP:0025710	Late young adult onset
9568	GABBR2	HP:0007328	Impaired pain sensation
9568	GABBR2	HP:0007281	Developmental stagnation
9568	GABBR2	HP:0010864	Intellectual disability, severe
9568	GABBR2	HP:0002421	Poor head control
9568	GABBR2	HP:0003763	Bruxism
9568	GABBR2	HP:0001298	Encephalopathy
9568	GABBR2	HP:0025269	Panic attack
9568	GABBR2	HP:0001290	Generalized hypotonia
9568	GABBR2	HP:0001273	Abnormal corpus callosum morphology
9568	GABBR2	HP:0001268	Mental deterioration
9568	GABBR2	HP:0001288	Gait disturbance
9568	GABBR2	HP:0001256	Intellectual disability, mild
9568	GABBR2	HP:0001250	Seizure
9568	GABBR2	HP:0001252	Hypotonia
9568	GABBR2	HP:0001251	Ataxia
9568	GABBR2	HP:0001249	Intellectual disability
9568	GABBR2	HP:0001265	Hyporeflexia
9568	GABBR2	HP:0001263	Global developmental delay
9568	GABBR2	HP:0001257	Spasticity
9568	GABBR2	HP:0002540	Inability to walk
9568	GABBR2	HP:0002521	Hypsarrhythmia
9568	GABBR2	HP:0002509	Limb hypertonia
9568	GABBR2	HP:0002505	Loss of ambulation
9568	GABBR2	HP:0003808	Abnormal muscle tone
9568	GABBR2	HP:0025387	Pill-rolling tremor
9568	GABBR2	HP:0001332	Dystonia
9568	GABBR2	HP:0001344	Absent speech
9568	GABBR2	HP:0001337	Tremor
9568	GABBR2	HP:0000006	Autosomal dominant inheritance
9568	GABBR2	HP:0001336	Myoclonus
9568	GABBR2	HP:0002650	Scoliosis
9568	GABBR2	HP:0001319	Neonatal hypotonia
9568	GABBR2	HP:0001315	Reduced tendon reflexes
9568	GABBR2	HP:0012171	Stereotypical hand wringing
9568	GABBR2	HP:0002793	Abnormal pattern of respiration
9568	GABBR2	HP:0032588	Hand apraxia
9568	GABBR2	HP:0002020	Gastroesophageal reflux
9568	GABBR2	HP:0002069	Bilateral tonic-clonic seizure
9568	GABBR2	HP:0002066	Gait ataxia
9568	GABBR2	HP:0002063	Rigidity
9568	GABBR2	HP:0002059	Cerebral atrophy
9568	GABBR2	HP:0002123	Generalized myoclonic seizure
9568	GABBR2	HP:0002119	Ventriculomegaly
9568	GABBR2	HP:0002133	Status epilepticus
9568	GABBR2	HP:0002104	Apnea
9568	GABBR2	HP:0002186	Apraxia
9568	GABBR2	HP:0002194	Delayed gross motor development
9568	GABBR2	HP:0002266	Focal clonic seizure
9568	GABBR2	HP:0003593	Infantile onset
9568	GABBR2	HP:0100703	Tongue thrusting
9568	GABBR2	HP:0100710	Impulsivity
9568	GABBR2	HP:0100716	Self-injurious behavior
9568	GABBR2	HP:0200134	Epileptic encephalopathy
9568	GABBR2	HP:0007018	Attention deficit hyperactivity disorder
9568	GABBR2	HP:0011968	Feeding difficulties
9568	GABBR2	HP:0002384	Focal impaired awareness seizure
9568	GABBR2	HP:0002360	Sleep disturbance
9568	GABBR2	HP:0002376	Developmental regression
9568	GABBR2	HP:0002371	Loss of speech
9568	GABBR2	HP:0002355	Difficulty walking
9568	GABBR2	HP:0002353	EEG abnormality
9568	GABBR2	HP:0002317	Unsteady gait
9568	GABBR2	HP:0010841	Multifocal epileptiform discharges
9568	GABBR2	HP:0010844	EEG with multifocal slow activity
9568	GABBR2	HP:0100660	Dyskinesia
9568	GABBR2	HP:0200055	Small hand
9568	GABBR2	HP:0002300	Mutism
9568	GABBR2	HP:0002307	Drooling
9568	GABBR2	HP:0000639	Nystagmus
9568	GABBR2	HP:0000648	Optic atrophy
9568	GABBR2	HP:0011344	Severe global developmental delay
9568	GABBR2	HP:0000668	Hypodontia
9568	GABBR2	HP:0004322	Short stature
9568	GABBR2	HP:0006979	Sleep-wake cycle disturbance
9568	GABBR2	HP:0004302	Functional motor deficit
9568	GABBR2	HP:0004305	Involuntary movements
9568	GABBR2	HP:0100022	Abnormality of movement
9568	GABBR2	HP:0100023	Recurrent hand flapping
9568	GABBR2	HP:0000735	Impaired social interactions
9568	GABBR2	HP:0000750	Delayed speech and language development
9568	GABBR2	HP:0012719	Functional abnormality of the gastrointestinal tract
9568	GABBR2	HP:0000748	Inappropriate laughter
9568	GABBR2	HP:0000717	Autism
9568	GABBR2	HP:0000713	Agitation
9568	GABBR2	HP:0000729	Autistic behavior
9568	GABBR2	HP:0000723	Restrictive behavior
9568	GABBR2	HP:0000708	Atypical behavior
9568	GABBR2	HP:0011443	Abnormality of coordination
9568	GABBR2	HP:0000817	Reduced eye contact
9568	GABBR2	HP:0045084	Limb myoclonus
9568	GABBR2	HP:0000256	Macrocephaly
9568	GABBR2	HP:0002808	Kyphosis
9568	GABBR2	HP:0000252	Microcephaly
9568	GABBR2	HP:0002883	Hyperventilation
9568	GABBR2	HP:0002882	Sudden episodic apnea
9568	GABBR2	HP:0002876	Episodic tachypnea
9568	GABBR2	HP:0001558	Decreased fetal movement
9568	GABBR2	HP:0001508	Failure to thrive
9568	GABBR2	HP:0001510	Growth delay
9568	GABBR2	HP:0007824	Total ophthalmoplegia
9568	GABBR2	HP:0012332	Abnormal autonomic nervous system physiology
9568	GABBR2	HP:0032792	Tonic seizure
9568	GABBR2	HP:0000348	High forehead
9568	GABBR2	HP:0030215	Inappropriate crying
9568	GABBR2	HP:0012469	Infantile spasms
9568	GABBR2	HP:0000494	Downslanted palpebral fissures
9568	GABBR2	HP:0012444	Brain atrophy
9568	GABBR2	HP:0012447	Abnormal myelination
9568	GABBR2	HP:0001773	Short foot
9568	GABBR2	HP:0005484	Secondary microcephaly
9568	GABBR2	HP:0000508	Ptosis
9568	GABBR2	HP:0000504	Abnormality of vision
9568	GABBR2	HP:0012547	Abnormal involuntary eye movements
9568	GABBR2	HP:0000546	Retinal degeneration
9569	GTF2IRD1	HP:0001181	Adducted thumb
9569	GTF2IRD1	HP:0001136	Retinal arteriolar tortuosity
9569	GTF2IRD1	HP:0010880	Increased nuchal translucency
9569	GTF2IRD1	HP:0001297	Stroke
9569	GTF2IRD1	HP:0100817	Renovascular hypertension
9569	GTF2IRD1	HP:0001288	Gait disturbance
9569	GTF2IRD1	HP:0001252	Hypotonia
9569	GTF2IRD1	HP:0001251	Ataxia
9569	GTF2IRD1	HP:0001249	Intellectual disability
9569	GTF2IRD1	HP:0001260	Dysarthria
9569	GTF2IRD1	HP:0001257	Spasticity
9569	GTF2IRD1	HP:0001231	Abnormal fingernail morphology
9569	GTF2IRD1	HP:0002575	Tracheoesophageal fistula
9569	GTF2IRD1	HP:0008736	Hypoplasia of penis
9569	GTF2IRD1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
9569	GTF2IRD1	HP:0008661	Urethral stenosis
9569	GTF2IRD1	HP:0000089	Renal hypoplasia
9569	GTF2IRD1	HP:0000083	Renal insufficiency
9569	GTF2IRD1	HP:0000093	Proteinuria
9569	GTF2IRD1	HP:0000076	Vesicoureteral reflux
9569	GTF2IRD1	HP:0000075	Renal duplication
9569	GTF2IRD1	HP:0000044	Hypogonadotropic hypogonadism
9569	GTF2IRD1	HP:0001388	Joint laxity
9569	GTF2IRD1	HP:0001387	Joint stiffness
9569	GTF2IRD1	HP:0000023	Inguinal hernia
9569	GTF2IRD1	HP:0000015	Bladder diverticulum
9569	GTF2IRD1	HP:0000014	Abnormality of the bladder
9569	GTF2IRD1	HP:0001347	Hyperreflexia
9569	GTF2IRD1	HP:0001361	Nystagmus-induced head nodding
9569	GTF2IRD1	HP:0000025	Functional abnormality of male internal genitalia
9569	GTF2IRD1	HP:0000028	Cryptorchidism
9569	GTF2IRD1	HP:0007495	Prematurely aged appearance
9569	GTF2IRD1	HP:0007477	Abnormal dermatoglyphics
9569	GTF2IRD1	HP:0000010	Recurrent urinary tract infections
9569	GTF2IRD1	HP:0001337	Tremor
9569	GTF2IRD1	HP:0001310	Dysmetria
9569	GTF2IRD1	HP:0002637	Cerebral ischemia
9569	GTF2IRD1	HP:0002650	Scoliosis
9569	GTF2IRD1	HP:0002644	Abnormal pelvic girdle bone morphology
9569	GTF2IRD1	HP:0002623	Overriding aorta
9569	GTF2IRD1	HP:0000179	Thick lower lip vermilion
9569	GTF2IRD1	HP:0000158	Macroglossia
9569	GTF2IRD1	HP:0000154	Wide mouth
9569	GTF2IRD1	HP:0000147	Polycystic ovaries
9569	GTF2IRD1	HP:0000121	Nephrocalcinosis
9569	GTF2IRD1	HP:0000125	Pelvic kidney
9569	GTF2IRD1	HP:0002750	Delayed skeletal maturation
9569	GTF2IRD1	HP:0002024	Malabsorption
9569	GTF2IRD1	HP:0002020	Gastroesophageal reflux
9569	GTF2IRD1	HP:0002019	Constipation
9569	GTF2IRD1	HP:0002017	Nausea and vomiting
9569	GTF2IRD1	HP:0002035	Rectal prolapse
9569	GTF2IRD1	HP:0002027	Abdominal pain
9569	GTF2IRD1	HP:0003312	Abnormal form of the vertebral bodies
9569	GTF2IRD1	HP:0003307	Hyperlordosis
9569	GTF2IRD1	HP:0005978	Type II diabetes mellitus
9569	GTF2IRD1	HP:0100539	Periorbital edema
9569	GTF2IRD1	HP:0100545	Arterial stenosis
9569	GTF2IRD1	HP:0002071	Abnormality of extrapyramidal motor function
9569	GTF2IRD1	HP:0002141	Gait imbalance
9569	GTF2IRD1	HP:0002150	Hypercalciuria
9569	GTF2IRD1	HP:0002120	Cerebral cortical atrophy
9569	GTF2IRD1	HP:0003422	Vertebral segmentation defect
9569	GTF2IRD1	HP:0002183	Phonophobia
9569	GTF2IRD1	HP:0002167	Abnormality of speech or vocalization
9569	GTF2IRD1	HP:0010526	Dysgraphia
9569	GTF2IRD1	HP:0002253	Colonic diverticula
9569	GTF2IRD1	HP:0002205	Recurrent respiratory infections
9569	GTF2IRD1	HP:0100785	Insomnia
9569	GTF2IRD1	HP:0010662	Abnormality of the diencephalon
9569	GTF2IRD1	HP:0010669	Hypoplasia of the zygomatic bone
9569	GTF2IRD1	HP:0007018	Attention deficit hyperactivity disorder
9569	GTF2IRD1	HP:0001052	Nevus flammeus
9569	GTF2IRD1	HP:0002376	Developmental regression
9569	GTF2IRD1	HP:0200021	Down-sloping shoulders
9569	GTF2IRD1	HP:0100659	Abnormal cerebral vascular morphology
9569	GTF2IRD1	HP:0010807	Open bite
9569	GTF2IRD1	HP:0100613	Death in early adulthood
9569	GTF2IRD1	HP:0001081	Cholelithiasis
9569	GTF2IRD1	HP:0008499	High hypermetropia
9569	GTF2IRD1	HP:0010780	Hyperacusis
9569	GTF2IRD1	HP:0002308	Chiari malformation
9569	GTF2IRD1	HP:0004969	Peripheral pulmonary artery stenosis
9569	GTF2IRD1	HP:0004209	Clinodactyly of the 5th finger
9569	GTF2IRD1	HP:0004295	Abnormal gastric mucosa morphology
9569	GTF2IRD1	HP:0005562	Multiple renal cysts
9569	GTF2IRD1	HP:0001969	Abnormal tubulointerstitial morphology
9569	GTF2IRD1	HP:0000635	Blue irides
9569	GTF2IRD1	HP:0000632	Lacrimation abnormality
9569	GTF2IRD1	HP:0000627	Posterior embryotoxon
9569	GTF2IRD1	HP:0000682	Abnormal dental enamel morphology
9569	GTF2IRD1	HP:0000691	Microdontia
9569	GTF2IRD1	HP:0000689	Dental malocclusion
9569	GTF2IRD1	HP:0000670	Carious teeth
9569	GTF2IRD1	HP:0012639	Abnormal nervous system morphology
9569	GTF2IRD1	HP:0000668	Hypodontia
9569	GTF2IRD1	HP:0004322	Short stature
9569	GTF2IRD1	HP:0004306	Abnormal endocardium morphology
9569	GTF2IRD1	HP:0004305	Involuntary movements
9569	GTF2IRD1	HP:0003072	Hypercalcemia
9569	GTF2IRD1	HP:0004381	Supravalvular aortic stenosis
9569	GTF2IRD1	HP:0004398	Peptic ulcer
9569	GTF2IRD1	HP:0005692	Joint hyperflexibility
9569	GTF2IRD1	HP:0003028	Abnormality of the ankle
9569	GTF2IRD1	HP:0100025	Overfriendliness
9569	GTF2IRD1	HP:0000767	Pectus excavatum
9569	GTF2IRD1	HP:0000739	Anxiety
9569	GTF2IRD1	HP:0000716	Depression
9569	GTF2IRD1	HP:0000717	Autism
9569	GTF2IRD1	HP:0000722	Compulsive behaviors
9569	GTF2IRD1	HP:0000787	Nephrolithiasis
9569	GTF2IRD1	HP:0003119	Abnormal circulating lipid concentration
9569	GTF2IRD1	HP:0004428	Elfin facies
9569	GTF2IRD1	HP:0003198	Myopathy
9569	GTF2IRD1	HP:0003196	Short nose
9569	GTF2IRD1	HP:0000826	Precocious puberty
9569	GTF2IRD1	HP:0000822	Hypertension
9569	GTF2IRD1	HP:0000821	Hypothyroidism
9569	GTF2IRD1	HP:0003236	Elevated circulating creatine kinase concentration
9569	GTF2IRD1	HP:0003298	Spina bifida occulta
9569	GTF2IRD1	HP:0000960	Sacral dimple
9569	GTF2IRD1	HP:0000939	Osteoporosis
9569	GTF2IRD1	HP:0000938	Osteopenia
9569	GTF2IRD1	HP:0100240	Synostosis of joints
9569	GTF2IRD1	HP:0008053	Aplasia/Hypoplasia of the iris
9569	GTF2IRD1	HP:0007720	Flat cornea
9569	GTF2IRD1	HP:0000286	Epicanthus
9569	GTF2IRD1	HP:0000280	Coarse facial features
9569	GTF2IRD1	HP:0000275	Narrow face
9569	GTF2IRD1	HP:0005113	Aortic arch aneurysm
9569	GTF2IRD1	HP:0002829	Arthralgia
9569	GTF2IRD1	HP:0002808	Kyphosis
9569	GTF2IRD1	HP:0000252	Microcephaly
9569	GTF2IRD1	HP:0001582	Redundant skin
9569	GTF2IRD1	HP:0000212	Gingival overgrowth
9569	GTF2IRD1	HP:0000232	Everted lower lip vermilion
9569	GTF2IRD1	HP:0001531	Failure to thrive in infancy
9569	GTF2IRD1	HP:0002857	Genu valgum
9569	GTF2IRD1	HP:0001537	Umbilical hernia
9569	GTF2IRD1	HP:0001513	Obesity
9569	GTF2IRD1	HP:0000389	Chronic otitis media
9569	GTF2IRD1	HP:0001609	Hoarse voice
9569	GTF2IRD1	HP:0001608	Abnormality of the voice
9569	GTF2IRD1	HP:0001618	Dysphonia
9569	GTF2IRD1	HP:0006482	Abnormality of dental morphology
9569	GTF2IRD1	HP:0000368	Low-set, posteriorly rotated ears
9569	GTF2IRD1	HP:0001671	Abnormal cardiac septum morphology
9569	GTF2IRD1	HP:0000343	Long philtrum
9569	GTF2IRD1	HP:0011001	Increased bone mineral density
9569	GTF2IRD1	HP:0000337	Broad forehead
9569	GTF2IRD1	HP:0002999	Patellar dislocation
9569	GTF2IRD1	HP:0000348	High forehead
9569	GTF2IRD1	HP:0000347	Micrognathia
9569	GTF2IRD1	HP:0001647	Bicuspid aortic valve
9569	GTF2IRD1	HP:0001643	Patent ductus arteriosus
9569	GTF2IRD1	HP:0001642	Pulmonic stenosis
9569	GTF2IRD1	HP:0001645	Sudden cardiac death
9569	GTF2IRD1	HP:0002974	Radioulnar synostosis
9569	GTF2IRD1	HP:0001658	Myocardial infarction
9569	GTF2IRD1	HP:0001653	Mitral regurgitation
9569	GTF2IRD1	HP:0001629	Ventricular septal defect
9569	GTF2IRD1	HP:0001626	Abnormality of the cardiovascular system
9569	GTF2IRD1	HP:0001640	Cardiomegaly
9569	GTF2IRD1	HP:0001639	Hypertrophic cardiomyopathy
9569	GTF2IRD1	HP:0001636	Tetralogy of Fallot
9569	GTF2IRD1	HP:0001635	Congestive heart failure
9569	GTF2IRD1	HP:0000307	Pointed chin
9569	GTF2IRD1	HP:0001631	Atrial septal defect
9569	GTF2IRD1	HP:0001634	Mitral valve prolapse
9569	GTF2IRD1	HP:0007957	Corneal opacity
9569	GTF2IRD1	HP:0005344	Abnormal carotid artery morphology
9569	GTF2IRD1	HP:0000407	Sensorineural hearing impairment
9569	GTF2IRD1	HP:0000400	Macrotia
9569	GTF2IRD1	HP:0000486	Strabismus
9569	GTF2IRD1	HP:0000485	Megalocornea
9569	GTF2IRD1	HP:0000464	Abnormality of the neck
9569	GTF2IRD1	HP:0012433	Abnormal social behavior
9569	GTF2IRD1	HP:0001763	Pes planus
9569	GTF2IRD1	HP:0000411	Protruding ear
9569	GTF2IRD1	HP:0000431	Wide nasal bridge
9569	GTF2IRD1	HP:0000518	Cataract
9569	GTF2IRD1	HP:0001822	Hallux valgus
9569	GTF2IRD1	HP:0000505	Visual impairment
9569	GTF2IRD1	HP:0000501	Glaucoma
9569	GTF2IRD1	HP:0001800	Hypoplastic toenails
9569	GTF2IRD1	HP:0000581	Blepharophimosis
9569	GTF2IRD1	HP:0000545	Myopia
9570	GOSR2	HP:0010850	EEG with spike-wave complexes
9570	GOSR2	HP:0001284	Areflexia
9570	GOSR2	HP:0001251	Ataxia
9570	GOSR2	HP:0001260	Dysarthria
9570	GOSR2	HP:0002505	Loss of ambulation
9570	GOSR2	HP:0000007	Autosomal recessive inheritance
9570	GOSR2	HP:0001337	Tremor
9570	GOSR2	HP:0001336	Myoclonus
9570	GOSR2	HP:0002650	Scoliosis
9570	GOSR2	HP:0002069	Bilateral tonic-clonic seizure
9570	GOSR2	HP:0002121	Generalized non-motor (absence) seizure
9570	GOSR2	HP:0003676	Progressive
9570	GOSR2	HP:0002355	Difficulty walking
9570	GOSR2	HP:0002354	Memory impairment
9570	GOSR2	HP:0010819	Atonic seizure
9570	GOSR2	HP:0011463	Childhood onset
9570	GOSR2	HP:0003236	Elevated circulating creatine kinase concentration
9570	GOSR2	HP:0032667	Myoclonic status epilepticus
9570	GOSR2	HP:0001761	Pes cavus
9573	GDF3	HP:0009911	Abnormal temporal bone morphology
9573	GDF3	HP:0002414	Spina bifida
9573	GDF3	HP:0001291	Abnormal cranial nerve morphology
9573	GDF3	HP:0010984	Digenic inheritance
9573	GDF3	HP:0008678	Renal hypoplasia/aplasia
9573	GDF3	HP:0000006	Autosomal dominant inheritance
9573	GDF3	HP:0002650	Scoliosis
9573	GDF3	HP:0000175	Cleft palate
9573	GDF3	HP:0007633	Bilateral microphthalmos
9573	GDF3	HP:0002023	Anal atresia
9573	GDF3	HP:0005988	Congenital muscular torticollis
9573	GDF3	HP:0004635	Cervical C5/C6 vertebrae fusion
9573	GDF3	HP:0100543	Cognitive impairment
9573	GDF3	HP:0004602	Cervical C2/C3 vertebral fusion
9573	GDF3	HP:0002162	Low posterior hairline
9573	GDF3	HP:0003577	Congenital onset
9573	GDF3	HP:0000639	Nystagmus
9573	GDF3	HP:0000612	Iris coloboma
9573	GDF3	HP:0005640	Abnormal vertebral segmentation and fusion
9573	GDF3	HP:0030680	Abnormality of cardiovascular system morphology
9573	GDF3	HP:0004397	Ectopic anus
9573	GDF3	HP:0004374	Hemiplegia/hemiparesis
9573	GDF3	HP:0003043	Abnormal shoulder morphology
9573	GDF3	HP:0000772	Abnormal rib morphology
9573	GDF3	HP:0000912	Sprengel anomaly
9573	GDF3	HP:0000925	Abnormality of the vertebral column
9573	GDF3	HP:0005107	Abnormal sacrum morphology
9573	GDF3	HP:0007766	Optic disc hypoplasia
9573	GDF3	HP:0007750	Hypoplasia of the fovea
9573	GDF3	HP:0002943	Thoracic scoliosis
9573	GDF3	HP:0000365	Hearing impairment
9573	GDF3	HP:0000324	Facial asymmetry
9573	GDF3	HP:0001629	Ventricular septal defect
9573	GDF3	HP:0000470	Short neck
9573	GDF3	HP:0000465	Webbed neck
9573	GDF3	HP:0030281	Cervical C3/C4 vertebral fusion
9573	GDF3	HP:0000505	Visual impairment
9573	GDF3	HP:0000589	Coloboma
9573	GDF3	HP:0000568	Microphthalmia
9573	GDF3	HP:0000567	Chorioretinal coloboma
9578	CDC42BPB	HP:0001182	Tapered finger
9578	CDC42BPB	HP:0001137	Alternating esotropia
9578	CDC42BPB	HP:0010952	Mild fetal ventriculomegaly
9578	CDC42BPB	HP:0010945	Fetal pyelectasis
9578	CDC42BPB	HP:0009909	Uplifted earlobe
9578	CDC42BPB	HP:0001274	Agenesis of corpus callosum
9578	CDC42BPB	HP:0001252	Hypotonia
9578	CDC42BPB	HP:0001249	Intellectual disability
9578	CDC42BPB	HP:0001263	Global developmental delay
9578	CDC42BPB	HP:0002572	Episodic vomiting
9578	CDC42BPB	HP:0001238	Slender finger
9578	CDC42BPB	HP:0100842	Septo-optic dysplasia
9578	CDC42BPB	HP:0002553	Highly arched eyebrow
9578	CDC42BPB	HP:0002509	Limb hypertonia
9578	CDC42BPB	HP:0000041	Chordee
9578	CDC42BPB	HP:0000054	Micropenis
9578	CDC42BPB	HP:0001382	Joint hypermobility
9578	CDC42BPB	HP:0000047	Hypospadias
9578	CDC42BPB	HP:0001357	Plagiocephaly
9578	CDC42BPB	HP:0000028	Cryptorchidism
9578	CDC42BPB	HP:0000010	Recurrent urinary tract infections
9578	CDC42BPB	HP:0001334	Communicating hydrocephalus
9578	CDC42BPB	HP:0000006	Autosomal dominant inheritance
9578	CDC42BPB	HP:0001320	Cerebellar vermis hypoplasia
9578	CDC42BPB	HP:0002650	Scoliosis
9578	CDC42BPB	HP:0001488	Bilateral ptosis
9578	CDC42BPB	HP:0000154	Wide mouth
9578	CDC42BPB	HP:0032592	Aplasia of the right hemidiaphragm
9578	CDC42BPB	HP:0004689	Short fourth metatarsal
9578	CDC42BPB	HP:0002007	Frontal bossing
9578	CDC42BPB	HP:0002099	Asthma
9578	CDC42BPB	HP:0004736	Crossed fused renal ectopia
9578	CDC42BPB	HP:0004704	Short fifth metatarsal
9578	CDC42BPB	HP:0010579	Cone-shaped epiphysis
9578	CDC42BPB	HP:0003577	Congenital onset
9578	CDC42BPB	HP:0100716	Self-injurious behavior
9578	CDC42BPB	HP:0002209	Sparse scalp hair
9578	CDC42BPB	HP:0200085	Limb tremor
9578	CDC42BPB	HP:0007018	Attention deficit hyperactivity disorder
9578	CDC42BPB	HP:0010627	Anterior pituitary hypoplasia
9578	CDC42BPB	HP:0002370	Poor coordination
9578	CDC42BPB	HP:0033454	Tube feeding
9578	CDC42BPB	HP:0009765	Low hanging columella
9578	CDC42BPB	HP:0003623	Neonatal onset
9578	CDC42BPB	HP:0000646	Amblyopia
9578	CDC42BPB	HP:0011327	Posterior plagiocephaly
9578	CDC42BPB	HP:0000687	Widely spaced teeth
9578	CDC42BPB	HP:0000664	Synophrys
9578	CDC42BPB	HP:0004322	Short stature
9578	CDC42BPB	HP:0000767	Pectus excavatum
9578	CDC42BPB	HP:0000739	Anxiety
9578	CDC42BPB	HP:0000718	Aggressive behavior
9578	CDC42BPB	HP:0000729	Autistic behavior
9578	CDC42BPB	HP:0011461	Fetal onset
9578	CDC42BPB	HP:0010296	Ankyloglossia
9578	CDC42BPB	HP:0000894	Short clavicles
9578	CDC42BPB	HP:0045075	Sparse eyebrow
9578	CDC42BPB	HP:0030820	Hooded eyelid
9578	CDC42BPB	HP:0000954	Single transverse palmar crease
9578	CDC42BPB	HP:0045025	Narrow palpebral fissure
9578	CDC42BPB	HP:0008081	Pes valgus
9578	CDC42BPB	HP:0008070	Sparse hair
9578	CDC42BPB	HP:0009381	Short finger
9578	CDC42BPB	HP:0000293	Full cheeks
9578	CDC42BPB	HP:0000294	Low anterior hairline
9578	CDC42BPB	HP:0000256	Macrocephaly
9578	CDC42BPB	HP:0000276	Long face
9578	CDC42BPB	HP:0000268	Dolichocephaly
9578	CDC42BPB	HP:0000252	Microcephaly
9578	CDC42BPB	HP:0000219	Thin upper lip vermilion
9578	CDC42BPB	HP:0001562	Oligohydramnios
9578	CDC42BPB	HP:0001561	Polyhydramnios
9578	CDC42BPB	HP:0001558	Decreased fetal movement
9578	CDC42BPB	HP:0001555	Asymmetry of the thorax
9578	CDC42BPB	HP:0002870	Obstructive sleep apnea
9578	CDC42BPB	HP:0001500	Broad finger
9578	CDC42BPB	HP:0001511	Intrauterine growth retardation
9578	CDC42BPB	HP:0006485	Agenesis of incisor
9578	CDC42BPB	HP:0000369	Low-set ears
9578	CDC42BPB	HP:0000337	Broad forehead
9578	CDC42BPB	HP:0000348	High forehead
9578	CDC42BPB	HP:0000347	Micrognathia
9578	CDC42BPB	HP:0000319	Smooth philtrum
9578	CDC42BPB	HP:0000316	Hypertelorism
9578	CDC42BPB	HP:0001643	Patent ductus arteriosus
9578	CDC42BPB	HP:0000322	Short philtrum
9578	CDC42BPB	HP:0001655	Patent foramen ovale
9578	CDC42BPB	HP:0000303	Mandibular prognathia
9578	CDC42BPB	HP:0005338	Sparse lateral eyebrow
9578	CDC42BPB	HP:0000407	Sensorineural hearing impairment
9578	CDC42BPB	HP:0000403	Recurrent otitis media
9578	CDC42BPB	HP:0005280	Depressed nasal bridge
9578	CDC42BPB	HP:0000486	Strabismus
9578	CDC42BPB	HP:0000476	Cystic hygroma
9578	CDC42BPB	HP:0000494	Downslanted palpebral fissures
9578	CDC42BPB	HP:0000463	Anteverted nares
9578	CDC42BPB	HP:0000455	Broad nasal tip
9578	CDC42BPB	HP:0001769	Broad foot
9578	CDC42BPB	HP:0001763	Pes planus
9578	CDC42BPB	HP:0000426	Prominent nasal bridge
9578	CDC42BPB	HP:0000421	Epistaxis
9578	CDC42BPB	HP:0000527	Long eyelashes
9578	CDC42BPB	HP:0000508	Ptosis
9578	CDC42BPB	HP:0000582	Upslanted palpebral fissure
9578	CDC42BPB	HP:0012541	Cephalohematoma
9578	CDC42BPB	HP:0000537	Epicanthus inversus
9581	PREPL	HP:0003701	Proximal muscle weakness
9581	PREPL	HP:0001270	Motor delay
9581	PREPL	HP:0001250	Seizure
9581	PREPL	HP:0001252	Hypotonia
9581	PREPL	HP:0002591	Polyphagia
9581	PREPL	HP:0001263	Global developmental delay
9581	PREPL	HP:0002515	Waddling gait
9581	PREPL	HP:0001324	Muscle weakness
9581	PREPL	HP:0000007	Autosomal recessive inheritance
9581	PREPL	HP:0000135	Hypogonadism
9581	PREPL	HP:0002007	Frontal bossing
9581	PREPL	HP:0003577	Congenital onset
9581	PREPL	HP:0200125	Mitochondrial respiratory chain defects
9581	PREPL	HP:0011968	Feeding difficulties
9581	PREPL	HP:0002342	Intellectual disability, moderate
9581	PREPL	HP:0010804	Tented upper lip vermilion
9581	PREPL	HP:0001943	Hypoglycemia
9581	PREPL	HP:0004322	Short stature
9581	PREPL	HP:0000787	Nephrolithiasis
9581	PREPL	HP:0003131	Cystinuria
9581	PREPL	HP:0003128	Lactic acidosis
9581	PREPL	HP:0000824	Decreased response to growth hormone stimulation test
9581	PREPL	HP:0000286	Epicanthus
9581	PREPL	HP:0000278	Retrognathia
9581	PREPL	HP:0000268	Dolichocephaly
9581	PREPL	HP:0001558	Decreased fetal movement
9581	PREPL	HP:0001508	Failure to thrive
9581	PREPL	HP:0001510	Growth delay
9581	PREPL	HP:0012378	Fatigue
9581	PREPL	HP:0030208	Anti-acetylcholine receptor antibody positivity
9581	PREPL	HP:0001611	Hypernasal speech
9581	PREPL	HP:0002901	Hypocalcemia
9581	PREPL	HP:0000368	Low-set, posteriorly rotated ears
9581	PREPL	HP:0005280	Depressed nasal bridge
9581	PREPL	HP:0000527	Long eyelashes
9581	PREPL	HP:0000508	Ptosis
9607	CARTPT	HP:0010982	Polygenic inheritance
9607	CARTPT	HP:0000007	Autosomal recessive inheritance
9607	CARTPT	HP:0000006	Autosomal dominant inheritance
9607	CARTPT	HP:0031819	Increased waist to hip ratio
9607	CARTPT	HP:0001513	Obesity
9607	CARTPT	HP:0012340	Decreased resting energy expenditure
9620	CELSR1	HP:0000006	Autosomal dominant inheritance
9620	CELSR1	HP:0003550	Predominantly lower limb lymphedema
9620	CELSR1	HP:0033986	Tortuous lymphatic vessels
9622	KLK4	HP:0000007	Autosomal recessive inheritance
9622	KLK4	HP:0006285	Enamel hypomineralization
9622	KLK4	HP:0006286	Yellow-brown discoloration of the teeth
9622	KLK4	HP:0003593	Infantile onset
9622	KLK4	HP:0000670	Carious teeth
9622	KLK4	HP:0009102	Anterior open-bite malocclusion
9622	KLK4	HP:0000705	Amelogenesis imperfecta
9627	SNCAIP	HP:0007311	Short stepped shuffling gait
9627	SNCAIP	HP:0003745	Sporadic
9627	SNCAIP	HP:0001260	Dysarthria
9627	SNCAIP	HP:0002529	Neuronal loss in central nervous system
9627	SNCAIP	HP:0001332	Dystonia
9627	SNCAIP	HP:0000012	Urinary urgency
9627	SNCAIP	HP:0001337	Tremor
9627	SNCAIP	HP:0000006	Autosomal dominant inheritance
9627	SNCAIP	HP:0001300	Parkinsonism
9627	SNCAIP	HP:0002019	Constipation
9627	SNCAIP	HP:0002015	Dysphagia
9627	SNCAIP	HP:0002067	Bradykinesia
9627	SNCAIP	HP:0002063	Rigidity
9627	SNCAIP	HP:0002172	Postural instability
9627	SNCAIP	HP:0003587	Insidious onset
9627	SNCAIP	HP:0003584	Late onset
9627	SNCAIP	HP:0003581	Adult onset
9627	SNCAIP	HP:0011960	Substantia nigra gliosis
9627	SNCAIP	HP:0002360	Sleep disturbance
9627	SNCAIP	HP:0003676	Progressive
9627	SNCAIP	HP:0002322	Resting tremor
9627	SNCAIP	HP:0031908	Micrographia
9627	SNCAIP	HP:0000751	Personality changes
9627	SNCAIP	HP:0000738	Hallucinations
9627	SNCAIP	HP:0000716	Depression
9627	SNCAIP	HP:0000726	Dementia
9627	SNCAIP	HP:0100315	Lewy bodies
9627	SNCAIP	HP:0000298	Mask-like facies
9627	SNCAIP	HP:0012332	Abnormal autonomic nervous system physiology
9627	SNCAIP	HP:0001621	Weak voice
9630	GNA14	HP:0010990	Abnormality of the common coagulation pathway
9630	GNA14	HP:0011900	Hypofibrinogenemia
9630	GNA14	HP:0003401	Paresthesia
9630	GNA14	HP:0005548	Megakaryocytopenia
9630	GNA14	HP:0001903	Anemia
9630	GNA14	HP:0011355	Localized skin lesion
9630	GNA14	HP:0000998	Hypertrichosis
9630	GNA14	HP:0000979	Purpura
9630	GNA14	HP:0000975	Hyperhidrosis
9630	GNA14	HP:0000967	Petechiae
9630	GNA14	HP:0008069	Neoplasm of the skin
9630	GNA14	HP:0000329	Facial hemangioma
9630	GNA14	HP:0031490	Hemangioma of the lip
9630	GNA14	HP:0000565	Esotropia
9630	GNA14	HP:0012531	Pain
9630	GNA14	HP:0001873	Thrombocytopenia
9631	NUP155	HP:0000007	Autosomal recessive inheritance
9631	NUP155	HP:0031295	Left atrial enlargement
9631	NUP155	HP:0004755	Supraventricular tachycardia
9631	NUP155	HP:0004749	Atrial flutter
9631	NUP155	HP:0003577	Congenital onset
9631	NUP155	HP:0034197	Third trimester onset
9631	NUP155	HP:0005110	Atrial fibrillation
9631	NUP155	HP:0001645	Sudden cardiac death
9632	SEC24C	HP:0001166	Arachnodactyly
9632	SEC24C	HP:0001161	Hand polydactyly
9632	SEC24C	HP:0001136	Retinal arteriolar tortuosity
9632	SEC24C	HP:0002435	Meningocele
9632	SEC24C	HP:0007302	Bipolar affective disorder
9632	SEC24C	HP:0007271	Occipital myelomeningocele
9632	SEC24C	HP:0002414	Spina bifida
9632	SEC24C	HP:0001281	Tetany
9632	SEC24C	HP:0001256	Intellectual disability, mild
9632	SEC24C	HP:0001250	Seizure
9632	SEC24C	HP:0001252	Hypotonia
9632	SEC24C	HP:0001249	Intellectual disability
9632	SEC24C	HP:0001263	Global developmental delay
9632	SEC24C	HP:0002566	Intestinal malrotation
9632	SEC24C	HP:0000089	Renal hypoplasia
9632	SEC24C	HP:0000076	Vesicoureteral reflux
9632	SEC24C	HP:0001369	Arthritis
9632	SEC24C	HP:0000047	Hypospadias
9632	SEC24C	HP:0000023	Inguinal hernia
9632	SEC24C	HP:0002691	Platybasia
9632	SEC24C	HP:0000028	Cryptorchidism
9632	SEC24C	HP:0008872	Feeding difficulties in infancy
9632	SEC24C	HP:0001328	Specific learning disability
9632	SEC24C	HP:0002650	Scoliosis
9632	SEC24C	HP:0002619	Varicose veins
9632	SEC24C	HP:0002607	Bowel incontinence
9632	SEC24C	HP:0000164	Abnormality of the dentition
9632	SEC24C	HP:0000160	Narrow mouth
9632	SEC24C	HP:0000175	Cleft palate
9632	SEC24C	HP:0000113	Polycystic kidney dysplasia
9632	SEC24C	HP:0000130	Abnormality of the uterus
9632	SEC24C	HP:0002721	Immunodeficiency
9632	SEC24C	HP:0002023	Anal atresia
9632	SEC24C	HP:0002020	Gastroesophageal reflux
9632	SEC24C	HP:0002019	Constipation
9632	SEC24C	HP:0003326	Myalgia
9632	SEC24C	HP:0002099	Asthma
9632	SEC24C	HP:0002139	Arrhinencephaly
9632	SEC24C	HP:0002101	Abnormal lung lobation
9632	SEC24C	HP:0002239	Gastrointestinal hemorrhage
9632	SEC24C	HP:0002251	Aganglionic megacolon
9632	SEC24C	HP:0100765	Abnormality of the tonsils
9632	SEC24C	HP:0100735	Hypertensive crisis
9632	SEC24C	HP:0100750	Atelectasis
9632	SEC24C	HP:0100753	Schizophrenia
9632	SEC24C	HP:0007018	Attention deficit hyperactivity disorder
9632	SEC24C	HP:0001051	Seborrheic dermatitis
9632	SEC24C	HP:0001053	Hypopigmented skin patches
9632	SEC24C	HP:0002381	Aphasia
9632	SEC24C	HP:0001061	Acne
9632	SEC24C	HP:0001081	Cholelithiasis
9632	SEC24C	HP:0005562	Multiple renal cysts
9632	SEC24C	HP:0000648	Optic atrophy
9632	SEC24C	HP:0000627	Posterior embryotoxon
9632	SEC24C	HP:0000600	Abnormality of the pharynx
9632	SEC24C	HP:0000682	Abnormal dental enamel morphology
9632	SEC24C	HP:0011324	Multiple suture craniosynostosis
9632	SEC24C	HP:0000670	Carious teeth
9632	SEC24C	HP:0001999	Abnormal facial shape
9632	SEC24C	HP:0004322	Short stature
9632	SEC24C	HP:0030680	Abnormality of cardiovascular system morphology
9632	SEC24C	HP:0005692	Joint hyperflexibility
9632	SEC24C	HP:0012732	Anorectal anomaly
9632	SEC24C	HP:0000765	Abnormal thorax morphology
9632	SEC24C	HP:0000739	Anxiety
9632	SEC24C	HP:0000716	Depression
9632	SEC24C	HP:0000717	Autism
9632	SEC24C	HP:0000708	Atypical behavior
9632	SEC24C	HP:0011496	Corneal neovascularization
9632	SEC24C	HP:0000778	Hypoplasia of the thymus
9632	SEC24C	HP:0000929	Abnormal skull morphology
9632	SEC24C	HP:0000836	Hyperthyroidism
9632	SEC24C	HP:0000829	Hypoparathyroidism
9632	SEC24C	HP:0000821	Hypothyroidism
9632	SEC24C	HP:0011662	Tricuspid atresia
9632	SEC24C	HP:0000979	Purpura
9632	SEC24C	HP:0000286	Epicanthus
9632	SEC24C	HP:0000262	Turricephaly
9632	SEC24C	HP:0000276	Long face
9632	SEC24C	HP:0000272	Malar flattening
9632	SEC24C	HP:0000238	Hydrocephalus
9632	SEC24C	HP:0000252	Microcephaly
9632	SEC24C	HP:0001561	Polyhydramnios
9632	SEC24C	HP:0001537	Umbilical hernia
9632	SEC24C	HP:0001508	Failure to thrive
9632	SEC24C	HP:0001511	Intrauterine growth retardation
9632	SEC24C	HP:0001513	Obesity
9632	SEC24C	HP:0006510	Chronic pulmonary obstruction
9632	SEC24C	HP:0000385	Small earlobe
9632	SEC24C	HP:0000396	Overfolded helix
9632	SEC24C	HP:0000389	Chronic otitis media
9632	SEC24C	HP:0001601	Laryngomalacia
9632	SEC24C	HP:0001611	Hypernasal speech
9632	SEC24C	HP:0002901	Hypocalcemia
9632	SEC24C	HP:0000365	Hearing impairment
9632	SEC24C	HP:0000369	Low-set ears
9632	SEC24C	HP:0000343	Long philtrum
9632	SEC24C	HP:0002999	Patellar dislocation
9632	SEC24C	HP:0000347	Micrognathia
9632	SEC24C	HP:0012303	Abnormal aortic arch morphology
9632	SEC24C	HP:0000316	Hypertelorism
9632	SEC24C	HP:0001646	Abnormal aortic valve morphology
9632	SEC24C	HP:0001643	Patent ductus arteriosus
9632	SEC24C	HP:0001660	Truncus arteriosus
9632	SEC24C	HP:0000322	Short philtrum
9632	SEC24C	HP:0002960	Autoimmunity
9632	SEC24C	HP:0001629	Ventricular septal defect
9632	SEC24C	HP:0001641	Abnormal pulmonary valve morphology
9632	SEC24C	HP:0001636	Tetralogy of Fallot
9632	SEC24C	HP:0001631	Atrial septal defect
9632	SEC24C	HP:0000405	Conductive hearing impairment
9632	SEC24C	HP:0000486	Strabismus
9632	SEC24C	HP:0000494	Downslanted palpebral fissures
9632	SEC24C	HP:0000492	Abnormal eyelid morphology
9632	SEC24C	HP:0000470	Short neck
9632	SEC24C	HP:0000453	Choanal atresia
9632	SEC24C	HP:0000414	Bulbous nose
9632	SEC24C	HP:0001744	Splenomegaly
9632	SEC24C	HP:0001762	Talipes equinovarus
9632	SEC24C	HP:0000431	Wide nasal bridge
9632	SEC24C	HP:0000426	Prominent nasal bridge
9632	SEC24C	HP:0005435	Impaired T cell function
9632	SEC24C	HP:0000518	Cataract
9632	SEC24C	HP:0001829	Foot polydactyly
9632	SEC24C	HP:0000506	Telecanthus
9632	SEC24C	HP:0000508	Ptosis
9632	SEC24C	HP:0000501	Glaucoma
9632	SEC24C	HP:0000582	Upslanted palpebral fissure
9632	SEC24C	HP:0000568	Microphthalmia
9632	SEC24C	HP:0001872	Abnormality of thrombocytes
9632	SEC24C	HP:0001873	Thrombocytopenia
9636	ISG15	HP:0001250	Seizure
9636	ISG15	HP:0000007	Autosomal recessive inheritance
9636	ISG15	HP:0002716	Lymphadenopathy
9636	ISG15	HP:0002721	Immunodeficiency
9636	ISG15	HP:0002135	Basal ganglia calcification
9636	ISG15	HP:0012759	Neurodevelopmental abnormality
9636	ISG15	HP:0004429	Recurrent viral infections
9636	ISG15	HP:0011274	Recurrent mycobacterial infections
9636	ISG15	HP:0031691	Severe viral infection
9639	ARHGEF10	HP:0000006	Autosomal dominant inheritance
9639	ARHGEF10	HP:0003383	Onion bulb formation
9639	ARHGEF10	HP:0003581	Adult onset
9639	ARHGEF10	HP:0000762	Decreased nerve conduction velocity
9639	ARHGEF10	HP:0011096	Peripheral demyelination
9640	ZNF592	HP:0001270	Motor delay
9640	ZNF592	HP:0001250	Seizure
9640	ZNF592	HP:0001252	Hypotonia
9640	ZNF592	HP:0001251	Ataxia
9640	ZNF592	HP:0001249	Intellectual disability
9640	ZNF592	HP:0001260	Dysarthria
9640	ZNF592	HP:0001257	Spasticity
9640	ZNF592	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9640	ZNF592	HP:0000083	Renal insufficiency
9640	ZNF592	HP:0000100	Nephrotic syndrome
9640	ZNF592	HP:0007153	Progressive extrapyramidal movement disorder
9640	ZNF592	HP:0000648	Optic atrophy
9640	ZNF592	HP:0000951	Abnormality of the skin
9640	ZNF592	HP:0000252	Microcephaly
9640	ZNF592	HP:0012444	Brain atrophy
9652	SKIC3	HP:0001194	Abnormalities of placenta or umbilical cord
9652	SKIC3	HP:0025156	Dependency on intravenous nutrition
9652	SKIC3	HP:0009891	Underdeveloped supraorbital ridges
9652	SKIC3	HP:0008551	Microtia
9652	SKIC3	HP:0009886	Trichorrhexis nodosa
9652	SKIC3	HP:0001256	Intellectual disability, mild
9652	SKIC3	HP:0002583	Colitis
9652	SKIC3	HP:0001263	Global developmental delay
9652	SKIC3	HP:0000089	Renal hypoplasia
9652	SKIC3	HP:0001396	Cholestasis
9652	SKIC3	HP:0001399	Hepatic failure
9652	SKIC3	HP:0001392	Abnormality of the liver
9652	SKIC3	HP:0001395	Hepatic fibrosis
9652	SKIC3	HP:0001394	Cirrhosis
9652	SKIC3	HP:0012023	Galactosuria
9652	SKIC3	HP:0012024	Hypergalactosemia
9652	SKIC3	HP:0000047	Hypospadias
9652	SKIC3	HP:0000023	Inguinal hernia
9652	SKIC3	HP:0007513	Generalized hypopigmentation
9652	SKIC3	HP:0000007	Autosomal recessive inheritance
9652	SKIC3	HP:0000193	Bifid uvula
9652	SKIC3	HP:0000160	Narrow mouth
9652	SKIC3	HP:0000154	Wide mouth
9652	SKIC3	HP:0006267	Large placenta
9652	SKIC3	HP:0000113	Polycystic kidney dysplasia
9652	SKIC3	HP:0002719	Recurrent infections
9652	SKIC3	HP:0002721	Immunodeficiency
9652	SKIC3	HP:0002007	Frontal bossing
9652	SKIC3	HP:0100543	Cognitive impairment
9652	SKIC3	HP:0002041	Intractable diarrhea
9652	SKIC3	HP:0003452	Increased serum iron
9652	SKIC3	HP:0004734	Renal cortical microcysts
9652	SKIC3	HP:0011877	Increased mean platelet volume
9652	SKIC3	HP:0002240	Hepatomegaly
9652	SKIC3	HP:0002224	Woolly hair
9652	SKIC3	HP:0002212	Curly hair
9652	SKIC3	HP:0002213	Fine hair
9652	SKIC3	HP:0002299	Brittle hair
9652	SKIC3	HP:0025085	Bloody diarrhea
9652	SKIC3	HP:0004969	Peripheral pulmonary artery stenosis
9652	SKIC3	HP:0005599	Hypopigmentation of hair
9652	SKIC3	HP:0001999	Abnormal facial shape
9652	SKIC3	HP:0004322	Short stature
9652	SKIC3	HP:0004313	Decreased circulating antibody level
9652	SKIC3	HP:0003073	Hypoalbuminemia
9652	SKIC3	HP:0011473	Villous atrophy
9652	SKIC3	HP:0000778	Hypoplasia of the thymus
9652	SKIC3	HP:0012758	Neurodevelopmental delay
9652	SKIC3	HP:0005743	Avascular necrosis of the capital femoral epiphysis
9652	SKIC3	HP:0003139	Panhypogammaglobulinemia
9652	SKIC3	HP:0000821	Hypothyroidism
9652	SKIC3	HP:0003235	Hypermethioninemia
9652	SKIC3	HP:0000958	Dry skin
9652	SKIC3	HP:0000957	Cafe-au-lait spot
9652	SKIC3	HP:0000952	Jaundice
9652	SKIC3	HP:0008070	Sparse hair
9652	SKIC3	HP:0030056	Uncombable hair
9652	SKIC3	HP:0002884	Hepatoblastoma
9652	SKIC3	HP:0001561	Polyhydramnios
9652	SKIC3	HP:0001508	Failure to thrive
9652	SKIC3	HP:0001518	Small for gestational age
9652	SKIC3	HP:0001511	Intrauterine growth retardation
9652	SKIC3	HP:0011031	Abnormality of iron homeostasis
9652	SKIC3	HP:0005263	Gastritis
9652	SKIC3	HP:0000369	Low-set ears
9652	SKIC3	HP:0000343	Long philtrum
9652	SKIC3	HP:0000337	Broad forehead
9652	SKIC3	HP:0001647	Bicuspid aortic valve
9652	SKIC3	HP:0000316	Hypertelorism
9652	SKIC3	HP:0001643	Patent ductus arteriosus
9652	SKIC3	HP:0001642	Pulmonic stenosis
9652	SKIC3	HP:0001659	Aortic regurgitation
9652	SKIC3	HP:0001629	Ventricular septal defect
9652	SKIC3	HP:0001627	Abnormal heart morphology
9652	SKIC3	HP:0001636	Tetralogy of Fallot
9652	SKIC3	HP:0001631	Atrial septal defect
9652	SKIC3	HP:0001732	Abnormality of the pancreas
9652	SKIC3	HP:0000494	Downslanted palpebral fissures
9652	SKIC3	HP:0000463	Anteverted nares
9652	SKIC3	HP:0011121	Abnormality of skin morphology
9652	SKIC3	HP:0000457	Depressed nasal ridge
9652	SKIC3	HP:0000445	Wide nose
9652	SKIC3	HP:0001744	Splenomegaly
9652	SKIC3	HP:0000431	Wide nasal bridge
9652	SKIC3	HP:0000520	Proptosis
9652	SKIC3	HP:0000501	Glaucoma
9652	SKIC3	HP:0001894	Thrombocytosis
9652	SKIC3	HP:0011220	Prominent forehead
9652	SKIC3	HP:0001888	Lymphopenia
9653	HS2ST1	HP:0001134	Anterior polar cataract
9653	HS2ST1	HP:0010958	Bilateral renal agenesis
9653	HS2ST1	HP:0009907	Attached earlobe
9653	HS2ST1	HP:0009890	High anterior hairline
9653	HS2ST1	HP:0009899	Prominent crus of helix
9653	HS2ST1	HP:0001276	Hypertonia
9653	HS2ST1	HP:0001274	Agenesis of corpus callosum
9653	HS2ST1	HP:0001270	Motor delay
9653	HS2ST1	HP:0001252	Hypotonia
9653	HS2ST1	HP:0001249	Intellectual disability
9653	HS2ST1	HP:0001263	Global developmental delay
9653	HS2ST1	HP:0002558	Supernumerary nipple
9653	HS2ST1	HP:0000072	Hydroureter
9653	HS2ST1	HP:0000028	Cryptorchidism
9653	HS2ST1	HP:0008873	Disproportionate short-limb short stature
9653	HS2ST1	HP:0000007	Autosomal recessive inheritance
9653	HS2ST1	HP:0002650	Scoliosis
9653	HS2ST1	HP:0000158	Macroglossia
9653	HS2ST1	HP:0000176	Submucous cleft hard palate
9653	HS2ST1	HP:0000154	Wide mouth
9653	HS2ST1	HP:0007676	Hypoplasia of the iris
9653	HS2ST1	HP:0000122	Unilateral renal agenesis
9653	HS2ST1	HP:0002002	Deep philtrum
9653	HS2ST1	HP:0002079	Hypoplasia of the corpus callosum
9653	HS2ST1	HP:0011927	Short digit
9653	HS2ST1	HP:0002188	Delayed CNS myelination
9653	HS2ST1	HP:0003577	Congenital onset
9653	HS2ST1	HP:0011968	Feeding difficulties
9653	HS2ST1	HP:0009836	Broad distal phalanx of finger
9653	HS2ST1	HP:0000627	Posterior embryotoxon
9653	HS2ST1	HP:0000629	Periorbital fullness
9653	HS2ST1	HP:0000691	Microdontia
9653	HS2ST1	HP:0010186	Broad distal phalanx of the toes
9653	HS2ST1	HP:0000767	Pectus excavatum
9653	HS2ST1	HP:0000750	Delayed speech and language development
9653	HS2ST1	HP:0003090	Hypoplasia of the capital femoral epiphysis
9653	HS2ST1	HP:0010282	Thin lower lip vermilion
9653	HS2ST1	HP:0003273	Hip contracture
9653	HS2ST1	HP:0000286	Epicanthus
9653	HS2ST1	HP:0000280	Coarse facial features
9653	HS2ST1	HP:0000278	Retrognathia
9653	HS2ST1	HP:0002808	Kyphosis
9653	HS2ST1	HP:0006380	Knee flexion contracture
9653	HS2ST1	HP:0000219	Thin upper lip vermilion
9653	HS2ST1	HP:0001562	Oligohydramnios
9653	HS2ST1	HP:0002857	Genu valgum
9653	HS2ST1	HP:0000358	Posteriorly rotated ears
9653	HS2ST1	HP:0000369	Low-set ears
9653	HS2ST1	HP:0000341	Narrow forehead
9653	HS2ST1	HP:0000316	Hypertelorism
9653	HS2ST1	HP:0002987	Elbow flexion contracture
9653	HS2ST1	HP:0000307	Pointed chin
9653	HS2ST1	HP:0005306	Capillary hemangioma
9653	HS2ST1	HP:0000407	Sensorineural hearing impairment
9653	HS2ST1	HP:0012450	Chronic constipation
9653	HS2ST1	HP:0000455	Broad nasal tip
9653	HS2ST1	HP:0000470	Short neck
9653	HS2ST1	HP:0000431	Wide nasal bridge
9653	HS2ST1	HP:0000582	Upslanted palpebral fissure
9653	HS2ST1	HP:0011232	Infra-orbital fold
9657	IQCB1	HP:0001141	Severely reduced visual acuity
9657	IQCB1	HP:0003774	Stage 5 chronic kidney disease
9657	IQCB1	HP:0001250	Seizure
9657	IQCB1	HP:0001252	Hypotonia
9657	IQCB1	HP:0001251	Ataxia
9657	IQCB1	HP:0001249	Intellectual disability
9657	IQCB1	HP:0001263	Global developmental delay
9657	IQCB1	HP:0000090	Nephronophthisis
9657	IQCB1	HP:0000007	Autosomal recessive inheritance
9657	IQCB1	HP:0002612	Congenital hepatic fibrosis
9657	IQCB1	HP:0002084	Encephalocele
9657	IQCB1	HP:0008209	Premature ovarian insufficiency
9657	IQCB1	HP:0010579	Cone-shaped epiphysis
9657	IQCB1	HP:0002269	Abnormality of neuronal migration
9657	IQCB1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
9657	IQCB1	HP:0012622	Chronic kidney disease
9657	IQCB1	HP:0000639	Nystagmus
9657	IQCB1	HP:0004322	Short stature
9657	IQCB1	HP:0004374	Hemiplegia/hemiparesis
9657	IQCB1	HP:0004348	Abnormality of bone mineral density
9657	IQCB1	HP:0012795	Abnormal optic disc morphology
9657	IQCB1	HP:0000822	Hypertension
9657	IQCB1	HP:0007703	Abnormality of retinal pigmentation
9657	IQCB1	HP:0000365	Hearing impairment
9657	IQCB1	HP:0000518	Cataract
9657	IQCB1	HP:0000510	Rod-cone dystrophy
9657	IQCB1	HP:0000512	Abnormal electroretinogram
9657	IQCB1	HP:0000529	Progressive visual loss
9657	IQCB1	HP:0000505	Visual impairment
9657	IQCB1	HP:0000563	Keratoconus
9657	IQCB1	HP:0000556	Retinal dystrophy
9662	CEP135	HP:0010864	Intellectual disability, severe
9662	CEP135	HP:0001274	Agenesis of corpus callosum
9662	CEP135	HP:0001263	Global developmental delay
9662	CEP135	HP:0007333	Hypoplasia of the frontal lobes
9662	CEP135	HP:0000076	Vesicoureteral reflux
9662	CEP135	HP:0001347	Hyperreflexia
9662	CEP135	HP:0000007	Autosomal recessive inheritance
9662	CEP135	HP:0001302	Pachygyria
9662	CEP135	HP:0000122	Unilateral renal agenesis
9662	CEP135	HP:0002119	Ventriculomegaly
9662	CEP135	HP:0003577	Congenital onset
9662	CEP135	HP:0002282	Gray matter heterotopia
9662	CEP135	HP:0004322	Short stature
9662	CEP135	HP:0011451	Primary microcephaly
9662	CEP135	HP:0003103	Abnormal cortical bone morphology
9662	CEP135	HP:0000278	Retrognathia
9662	CEP135	HP:0000252	Microcephaly
9662	CEP135	HP:0000219	Thin upper lip vermilion
9662	CEP135	HP:0001510	Growth delay
9662	CEP135	HP:0000340	Sloping forehead
9662	CEP135	HP:0000582	Upslanted palpebral fissure
9663	LPIN2	HP:0100820	Glomerulopathy
9663	LPIN2	HP:0010972	Anemia of inadequate production
9663	LPIN2	HP:0000093	Proteinuria
9663	LPIN2	HP:0001371	Flexion contracture
9663	LPIN2	HP:0001386	Joint swelling
9663	LPIN2	HP:0002659	Increased susceptibility to fractures
9663	LPIN2	HP:0000007	Autosomal recessive inheritance
9663	LPIN2	HP:0002653	Bone pain
9663	LPIN2	HP:0012132	Erythroid hyperplasia
9663	LPIN2	HP:0002754	Osteomyelitis
9663	LPIN2	HP:0001433	Hepatosplenomegaly
9663	LPIN2	HP:0002750	Delayed skeletal maturation
9663	LPIN2	HP:0002024	Malabsorption
9663	LPIN2	HP:0003326	Myalgia
9663	LPIN2	HP:0002113	Pulmonary infiltrates
9663	LPIN2	HP:0002240	Hepatomegaly
9663	LPIN2	HP:0003565	Elevated erythrocyte sedimentation rate
9663	LPIN2	HP:0100769	Synovitis
9663	LPIN2	HP:0004840	Hypochromic microcytic anemia
9663	LPIN2	HP:0004810	Congenital hypoplastic anemia
9663	LPIN2	HP:0001061	Acne
9663	LPIN2	HP:0002315	Headache
9663	LPIN2	HP:0200034	Papule
9663	LPIN2	HP:0025066	Decreased mean corpuscular volume
9663	LPIN2	HP:0200039	Pustule
9663	LPIN2	HP:0005561	Abnormality of bone marrow cell morphology
9663	LPIN2	HP:0001974	Leukocytosis
9663	LPIN2	HP:0001945	Fever
9663	LPIN2	HP:0001954	Recurrent fever
9663	LPIN2	HP:0001935	Microcytic anemia
9663	LPIN2	HP:0012647	Abnormal inflammatory response
9663	LPIN2	HP:0004326	Cachexia
9663	LPIN2	HP:0003025	Metaphyseal irregularity
9663	LPIN2	HP:0012735	Cough
9663	LPIN2	HP:0000823	Delayed puberty
9663	LPIN2	HP:0000988	Skin rash
9663	LPIN2	HP:0000969	Edema
9663	LPIN2	HP:0002829	Arthralgia
9663	LPIN2	HP:0001508	Failure to thrive
9663	LPIN2	HP:0001510	Growth delay
9663	LPIN2	HP:0002907	Microscopic hematuria
9663	LPIN2	HP:0011001	Increased bone mineral density
9663	LPIN2	HP:0011123	Inflammatory abnormality of the skin
9663	LPIN2	HP:0001744	Splenomegaly
9663	LPIN2	HP:0001824	Weight loss
9672	SDC3	HP:0010982	Polygenic inheritance
9672	SDC3	HP:0000007	Autosomal recessive inheritance
9672	SDC3	HP:0000006	Autosomal dominant inheritance
9672	SDC3	HP:0031819	Increased waist to hip ratio
9672	SDC3	HP:0001513	Obesity
9672	SDC3	HP:0012340	Decreased resting energy expenditure
9681	DEPDC5	HP:0002427	Expressive aphasia
9681	DEPDC5	HP:0025237	Confusional arousal
9681	DEPDC5	HP:0025236	Somnambulism
9681	DEPDC5	HP:0025235	Non-rapid eye movement parasomnia
9681	DEPDC5	HP:0001256	Intellectual disability, mild
9681	DEPDC5	HP:0001250	Seizure
9681	DEPDC5	HP:0001249	Intellectual disability
9681	DEPDC5	HP:0008765	Auditory hallucinations
9681	DEPDC5	HP:0410263	Brain imaging abnormality
9681	DEPDC5	HP:0007359	Focal-onset seizure
9681	DEPDC5	HP:0007334	Bilateral tonic-clonic seizure with focal onset
9681	DEPDC5	HP:0002521	Hypsarrhythmia
9681	DEPDC5	HP:0003829	Typified by incomplete penetrance
9681	DEPDC5	HP:0025373	Interictal EEG abnormality
9681	DEPDC5	HP:0000020	Urinary incontinence
9681	DEPDC5	HP:0012005	Deja vu aura
9681	DEPDC5	HP:0001345	Psychotic mentation
9681	DEPDC5	HP:0000006	Autosomal dominant inheritance
9681	DEPDC5	HP:0031284	Flushing
9681	DEPDC5	HP:0100543	Cognitive impairment
9681	DEPDC5	HP:0002069	Bilateral tonic-clonic seizure
9681	DEPDC5	HP:0002076	Migraine
9681	DEPDC5	HP:0002126	Polymicrogyria
9681	DEPDC5	HP:0002197	Generalized-onset seizure
9681	DEPDC5	HP:0003401	Paresthesia
9681	DEPDC5	HP:0002268	Paroxysmal dystonia
9681	DEPDC5	HP:0100710	Impulsivity
9681	DEPDC5	HP:0007018	Attention deficit hyperactivity disorder
9681	DEPDC5	HP:0032046	Focal cortical dysplasia
9681	DEPDC5	HP:0032047	Focal cortical dysplasia type I
9681	DEPDC5	HP:0032051	Focal cortical dysplasia type II
9681	DEPDC5	HP:0032052	Focal cortical dysplasia type IIa
9681	DEPDC5	HP:0002384	Focal impaired awareness seizure
9681	DEPDC5	HP:0002381	Aphasia
9681	DEPDC5	HP:0002367	Visual hallucinations
9681	DEPDC5	HP:0002349	Focal aware seizure
9681	DEPDC5	HP:0010841	Multifocal epileptiform discharges
9681	DEPDC5	HP:0007206	Hemimegalencephaly
9681	DEPDC5	HP:0031951	Nocturnal seizures
9681	DEPDC5	HP:0004305	Involuntary movements
9681	DEPDC5	HP:0000739	Anxiety
9681	DEPDC5	HP:0000733	Abnormal repetitive mannerisms
9681	DEPDC5	HP:0000716	Depression
9681	DEPDC5	HP:0000729	Autistic behavior
9681	DEPDC5	HP:0000708	Atypical behavior
9681	DEPDC5	HP:0000980	Pallor
9681	DEPDC5	HP:0002883	Hyperventilation
9681	DEPDC5	HP:0031535	Increased theta frequency activity in EEG
9681	DEPDC5	HP:0012332	Abnormal autonomic nervous system physiology
9681	DEPDC5	HP:0011193	EEG with focal spikes
9681	DEPDC5	HP:0011185	EEG with focal epileptiform discharges
9681	DEPDC5	HP:0011182	Interictal epileptiform activity
9681	DEPDC5	HP:0011174	Focal hyperkinetic seizure
9681	DEPDC5	HP:0011171	Simple febrile seizure
9681	DEPDC5	HP:0011154	Focal autonomic seizure
9681	DEPDC5	HP:0012469	Infantile spasms
9681	DEPDC5	HP:0031589	Suicidal ideation
9681	DEPDC5	HP:0012531	Pain
9688	NUP93	HP:0003774	Stage 5 chronic kidney disease
9688	NUP93	HP:0002586	Peritonitis
9688	NUP93	HP:0000097	Focal segmental glomerulosclerosis
9688	NUP93	HP:0000093	Proteinuria
9688	NUP93	HP:0000007	Autosomal recessive inheritance
9688	NUP93	HP:0002027	Abdominal pain
9688	NUP93	HP:0100539	Periorbital edema
9688	NUP93	HP:0011947	Respiratory tract infection
9688	NUP93	HP:0003676	Progressive
9688	NUP93	HP:0002315	Headache
9688	NUP93	HP:0012622	Chronic kidney disease
9688	NUP93	HP:0001967	Diffuse mesangial sclerosis
9688	NUP93	HP:0001945	Fever
9688	NUP93	HP:0003073	Hypoalbuminemia
9688	NUP93	HP:0000737	Irritability
9688	NUP93	HP:0000707	Abnormality of the nervous system
9688	NUP93	HP:0000790	Hematuria
9688	NUP93	HP:0000969	Edema
9688	NUP93	HP:0031504	Foamy urine
9688	NUP93	HP:0012588	Steroid-resistant nephrotic syndrome
9688	NUP93	HP:0012579	Minimal change glomerulonephritis
9692	PRORP	HP:0002495	Impaired vibratory sensation
9692	PRORP	HP:0001276	Hypertonia
9692	PRORP	HP:0001269	Hemiparesis
9692	PRORP	HP:0001284	Areflexia
9692	PRORP	HP:0001250	Seizure
9692	PRORP	HP:0001249	Intellectual disability
9692	PRORP	HP:0001263	Global developmental delay
9692	PRORP	HP:0032388	Periventricular nodular heterotopia
9692	PRORP	HP:0007340	Lower limb muscle weakness
9692	PRORP	HP:0012074	Tonic pupil
9692	PRORP	HP:0000007	Autosomal recessive inheritance
9692	PRORP	HP:0001337	Tremor
9692	PRORP	HP:0033748	Hypoesthesia
9692	PRORP	HP:0002650	Scoliosis
9692	PRORP	HP:0025406	Asthenia
9692	PRORP	HP:0003326	Myalgia
9692	PRORP	HP:0002076	Migraine
9692	PRORP	HP:0002151	Increased serum lactate
9692	PRORP	HP:0002197	Generalized-onset seizure
9692	PRORP	HP:0011968	Feeding difficulties
9692	PRORP	HP:0002354	Memory impairment
9692	PRORP	HP:0002315	Headache
9692	PRORP	HP:0008529	Absence of acoustic reflex
9692	PRORP	HP:0100654	Retrobulbar optic neuritis
9692	PRORP	HP:0011344	Severe global developmental delay
9692	PRORP	HP:0006989	Dysplastic corpus callosum
9692	PRORP	HP:0003074	Hyperglycemia
9692	PRORP	HP:0000729	Autistic behavior
9692	PRORP	HP:0000709	Psychosis
9692	PRORP	HP:0000786	Primary amenorrhea
9692	PRORP	HP:0004418	Thrombophlebitis
9692	PRORP	HP:0000815	Hypergonadotropic hypogonadism
9692	PRORP	HP:0030891	Periventricular white matter hyperintensities
9692	PRORP	HP:0000286	Epicanthus
9692	PRORP	HP:0032653	Elevated lactate:pyruvate ratio
9692	PRORP	HP:0000233	Thin vermilion border
9692	PRORP	HP:0001511	Intrauterine growth retardation
9692	PRORP	HP:0001513	Obesity
9692	PRORP	HP:0012377	Hemianopia
9692	PRORP	HP:0000316	Hypertelorism
9692	PRORP	HP:0001649	Tachycardia
9692	PRORP	HP:0000308	Microretrognathia
9692	PRORP	HP:0000407	Sensorineural hearing impairment
9692	PRORP	HP:0005484	Secondary microcephaly
9692	PRORP	HP:0000543	Optic disc pallor
9693	RAPGEF2	HP:0001250	Seizure
9693	RAPGEF2	HP:0000006	Autosomal dominant inheritance
9693	RAPGEF2	HP:0003581	Adult onset
9693	RAPGEF2	HP:0033054	Myoclonic tremor
9698	PUM1	HP:0001182	Tapered finger
9698	PUM1	HP:0001290	Generalized hypotonia
9698	PUM1	HP:0001270	Motor delay
9698	PUM1	HP:0001250	Seizure
9698	PUM1	HP:0001251	Ataxia
9698	PUM1	HP:0001249	Intellectual disability
9698	PUM1	HP:0001260	Dysarthria
9698	PUM1	HP:0001257	Spasticity
9698	PUM1	HP:0003829	Typified by incomplete penetrance
9698	PUM1	HP:0000006	Autosomal dominant inheritance
9698	PUM1	HP:0001310	Dysmetria
9698	PUM1	HP:0002072	Chorea
9698	PUM1	HP:0003676	Progressive
9698	PUM1	HP:0200055	Small hand
9698	PUM1	HP:0006855	Cerebellar vermis atrophy
9698	PUM1	HP:0000651	Diplopia
9698	PUM1	HP:0001999	Abnormal facial shape
9698	PUM1	HP:0004322	Short stature
9698	PUM1	HP:0000750	Delayed speech and language development
9698	PUM1	HP:0030084	Clinodactyly
9698	PUM1	HP:0000218	High palate
9698	PUM1	HP:0000369	Low-set ears
9698	PUM1	HP:0000341	Narrow forehead
9698	PUM1	HP:0000431	Wide nasal bridge
9698	PUM1	HP:0000508	Ptosis
9699	RIMS2	HP:0001251	Ataxia
9699	RIMS2	HP:0001263	Global developmental delay
9699	RIMS2	HP:0000007	Autosomal recessive inheritance
9699	RIMS2	HP:0007663	Reduced visual acuity
9699	RIMS2	HP:0000639	Nystagmus
9699	RIMS2	HP:0000613	Photophobia
9699	RIMS2	HP:0003074	Hyperglycemia
9699	RIMS2	HP:0000739	Anxiety
9699	RIMS2	HP:0000750	Delayed speech and language development
9699	RIMS2	HP:0000729	Autistic behavior
9699	RIMS2	HP:0030329	Retinal thinning
9699	RIMS2	HP:0000543	Optic disc pallor
9702	CEP57	HP:0010880	Increased nuchal translucency
9702	CEP57	HP:0100830	Round ear
9702	CEP57	HP:0001256	Intellectual disability, mild
9702	CEP57	HP:0001250	Seizure
9702	CEP57	HP:0001252	Hypotonia
9702	CEP57	HP:0001249	Intellectual disability
9702	CEP57	HP:0001263	Global developmental delay
9702	CEP57	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9702	CEP57	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9702	CEP57	HP:0010978	Abnormality of immune system physiology
9702	CEP57	HP:0000062	Ambiguous genitalia
9702	CEP57	HP:0001363	Craniosynostosis
9702	CEP57	HP:0001360	Holoprosencephaly
9702	CEP57	HP:0007565	Multiple cafe-au-lait spots
9702	CEP57	HP:0008846	Severe intrauterine growth retardation
9702	CEP57	HP:0002664	Neoplasm
9702	CEP57	HP:0000007	Autosomal recessive inheritance
9702	CEP57	HP:0002667	Nephroblastoma
9702	CEP57	HP:0000003	Multicystic kidney dysplasia
9702	CEP57	HP:0001305	Dandy-Walker malformation
9702	CEP57	HP:0008905	Rhizomelia
9702	CEP57	HP:0000160	Narrow mouth
9702	CEP57	HP:0000175	Cleft palate
9702	CEP57	HP:0012126	Stomach cancer
9702	CEP57	HP:0002797	Osteolysis
9702	CEP57	HP:0002750	Delayed skeletal maturation
9702	CEP57	HP:0032569	Temporal bossing
9702	CEP57	HP:0002007	Frontal bossing
9702	CEP57	HP:0002119	Ventriculomegaly
9702	CEP57	HP:0002101	Abnormal lung lobation
9702	CEP57	HP:0002104	Apnea
9702	CEP57	HP:0010535	Sleep apnea
9702	CEP57	HP:0002247	Duodenal atresia
9702	CEP57	HP:0003560	Muscular dystrophy
9702	CEP57	HP:0001000	Abnormality of skin pigmentation
9702	CEP57	HP:0100650	Vaginal neoplasm
9702	CEP57	HP:0200008	Intestinal polyposis
9702	CEP57	HP:0200040	Epidermoid cyst
9702	CEP57	HP:0004209	Clinodactyly of the 5th finger
9702	CEP57	HP:0000601	Hypotelorism
9702	CEP57	HP:0004322	Short stature
9702	CEP57	HP:0003003	Colon cancer
9702	CEP57	HP:0030680	Abnormality of cardiovascular system morphology
9702	CEP57	HP:0012745	Short palpebral fissure
9702	CEP57	HP:0003196	Short nose
9702	CEP57	HP:0000929	Abnormal skull morphology
9702	CEP57	HP:0000924	Abnormality of the skeletal system
9702	CEP57	HP:0000821	Hypothyroidism
9702	CEP57	HP:0000824	Decreased response to growth hormone stimulation test
9702	CEP57	HP:0000957	Cafe-au-lait spot
9702	CEP57	HP:0000954	Single transverse palmar crease
9702	CEP57	HP:0008070	Sparse hair
9702	CEP57	HP:0000286	Epicanthus
9702	CEP57	HP:0000276	Long face
9702	CEP57	HP:0000268	Dolichocephaly
9702	CEP57	HP:0002817	Abnormality of the upper limb
9702	CEP57	HP:0030084	Clinodactyly
9702	CEP57	HP:0000252	Microcephaly
9702	CEP57	HP:0001561	Polyhydramnios
9702	CEP57	HP:0002859	Rhabdomyosarcoma
9702	CEP57	HP:0001541	Ascites
9702	CEP57	HP:0002863	Myelodysplasia
9702	CEP57	HP:0001518	Small for gestational age
9702	CEP57	HP:0001511	Intrauterine growth retardation
9702	CEP57	HP:0001510	Growth delay
9702	CEP57	HP:0000365	Hearing impairment
9702	CEP57	HP:0000369	Low-set ears
9702	CEP57	HP:0000368	Low-set, posteriorly rotated ears
9702	CEP57	HP:0000340	Sloping forehead
9702	CEP57	HP:0001682	Subvalvular aortic stenosis
9702	CEP57	HP:0001680	Coarctation of aorta
9702	CEP57	HP:0001679	Abnormal aortic morphology
9702	CEP57	HP:0000348	High forehead
9702	CEP57	HP:0000347	Micrognathia
9702	CEP57	HP:0001659	Aortic regurgitation
9702	CEP57	HP:0000325	Triangular face
9702	CEP57	HP:0001629	Ventricular septal defect
9702	CEP57	HP:0001631	Atrial septal defect
9702	CEP57	HP:0007957	Corneal opacity
9702	CEP57	HP:0005280	Depressed nasal bridge
9702	CEP57	HP:0000478	Abnormality of the eye
9702	CEP57	HP:0000494	Downslanted palpebral fissures
9702	CEP57	HP:0000490	Deeply set eye
9702	CEP57	HP:0000457	Depressed nasal ridge
9702	CEP57	HP:0000445	Wide nose
9702	CEP57	HP:0000414	Bulbous nose
9702	CEP57	HP:0006721	Acute lymphoblastic leukemia
9702	CEP57	HP:0000518	Cataract
9702	CEP57	HP:0000504	Abnormality of vision
9702	CEP57	HP:0000501	Glaucoma
9702	CEP57	HP:0000581	Blepharophimosis
9702	CEP57	HP:0011220	Prominent forehead
9702	CEP57	HP:0000568	Microphthalmia
9711	RUBCN	HP:0001152	Saccadic smooth pursuit
9711	RUBCN	HP:0001272	Cerebellar atrophy
9711	RUBCN	HP:0001270	Motor delay
9711	RUBCN	HP:0001256	Intellectual disability, mild
9711	RUBCN	HP:0001250	Seizure
9711	RUBCN	HP:0001251	Ataxia
9711	RUBCN	HP:0001249	Intellectual disability
9711	RUBCN	HP:0001265	Hyporeflexia
9711	RUBCN	HP:0001260	Dysarthria
9711	RUBCN	HP:0001263	Global developmental delay
9711	RUBCN	HP:0000007	Autosomal recessive inheritance
9711	RUBCN	HP:0002600	Hyporeflexia of lower limbs
9711	RUBCN	HP:0002066	Gait ataxia
9711	RUBCN	HP:0002070	Limb ataxia
9711	RUBCN	HP:0002194	Delayed gross motor development
9711	RUBCN	HP:0002172	Postural instability
9711	RUBCN	HP:0003593	Infantile onset
9711	RUBCN	HP:0002395	Lower limb hyperreflexia
9711	RUBCN	HP:0003676	Progressive
9711	RUBCN	HP:0002317	Unsteady gait
9711	RUBCN	HP:0000639	Nystagmus
9711	RUBCN	HP:0031936	Delayed ability to walk
9711	RUBCN	HP:0000750	Delayed speech and language development
9711	RUBCN	HP:0012391	Hyporeflexia of upper limbs
9719	ADAMTSL2	HP:0001250	Seizure
9719	ADAMTSL2	HP:0001252	Hypotonia
9719	ADAMTSL2	HP:0001263	Global developmental delay
9719	ADAMTSL2	HP:0001239	Wrist flexion contracture
9719	ADAMTSL2	HP:0007392	Excessive wrinkled skin
9719	ADAMTSL2	HP:0001373	Joint dislocation
9719	ADAMTSL2	HP:0001367	Abnormal joint morphology
9719	ADAMTSL2	HP:0001385	Hip dysplasia
9719	ADAMTSL2	HP:0001387	Joint stiffness
9719	ADAMTSL2	HP:0000023	Inguinal hernia
9719	ADAMTSL2	HP:0002680	J-shaped sella turcica
9719	ADAMTSL2	HP:0006161	Short metacarpals with rounded proximal ends
9719	ADAMTSL2	HP:0002673	Coxa valga
9719	ADAMTSL2	HP:0000007	Autosomal recessive inheritance
9719	ADAMTSL2	HP:0002650	Scoliosis
9719	ADAMTSL2	HP:0000154	Wide mouth
9719	ADAMTSL2	HP:0002777	Tracheal stenosis
9719	ADAMTSL2	HP:0002748	Rickets
9719	ADAMTSL2	HP:0002749	Osteomalacia
9719	ADAMTSL2	HP:0002020	Gastroesophageal reflux
9719	ADAMTSL2	HP:0002036	Hiatus hernia
9719	ADAMTSL2	HP:0100541	Femoral hernia
9719	ADAMTSL2	HP:0010446	Tricuspid stenosis
9719	ADAMTSL2	HP:0009473	Joint contracture of the hand
9719	ADAMTSL2	HP:0100490	Camptodactyly of finger
9719	ADAMTSL2	HP:0010529	Echolalia
9719	ADAMTSL2	HP:0002240	Hepatomegaly
9719	ADAMTSL2	HP:0100790	Hernia
9719	ADAMTSL2	HP:0003510	Severe short stature
9719	ADAMTSL2	HP:0002381	Aphasia
9719	ADAMTSL2	HP:0001001	Abnormality of subcutaneous fat tissue
9719	ADAMTSL2	HP:0100679	Lack of skin elasticity
9719	ADAMTSL2	HP:0001072	Thickened skin
9719	ADAMTSL2	HP:0100633	Esophagitis
9719	ADAMTSL2	HP:0100699	Scarring
9719	ADAMTSL2	HP:0002300	Mutism
9719	ADAMTSL2	HP:0004279	Short palm
9719	ADAMTSL2	HP:0004322	Short stature
9719	ADAMTSL2	HP:0005692	Joint hyperflexibility
9719	ADAMTSL2	HP:0003010	Prolonged bleeding time
9719	ADAMTSL2	HP:0003026	Short long bone
9719	ADAMTSL2	HP:0000767	Pectus excavatum
9719	ADAMTSL2	HP:0005743	Avascular necrosis of the capital femoral epiphysis
9719	ADAMTSL2	HP:0003196	Short nose
9719	ADAMTSL2	HP:0003090	Hypoplasia of the capital femoral epiphysis
9719	ADAMTSL2	HP:0000974	Hyperextensible skin
9719	ADAMTSL2	HP:0000963	Thin skin
9719	ADAMTSL2	HP:0000939	Osteoporosis
9719	ADAMTSL2	HP:0000938	Osteopenia
9719	ADAMTSL2	HP:0000286	Epicanthus
9719	ADAMTSL2	HP:0000278	Retrognathia
9719	ADAMTSL2	HP:0002812	Coxa vara
9719	ADAMTSL2	HP:0002827	Hip dislocation
9719	ADAMTSL2	HP:0005041	Irregular capital femoral epiphysis
9719	ADAMTSL2	HP:0000240	Abnormality of skull size
9719	ADAMTSL2	HP:0000391	Thickened helices
9719	ADAMTSL2	HP:0000343	Long philtrum
9719	ADAMTSL2	HP:0000347	Micrognathia
9719	ADAMTSL2	HP:0001650	Aortic valve stenosis
9719	ADAMTSL2	HP:0000319	Smooth philtrum
9719	ADAMTSL2	HP:0000311	Round face
9719	ADAMTSL2	HP:0001620	High pitched voice
9719	ADAMTSL2	HP:0001635	Congestive heart failure
9719	ADAMTSL2	HP:0001718	Mitral stenosis
9719	ADAMTSL2	HP:0005280	Depressed nasal bridge
9719	ADAMTSL2	HP:0001792	Small nail
9719	ADAMTSL2	HP:0000463	Anteverted nares
9719	ADAMTSL2	HP:0001773	Short foot
9719	ADAMTSL2	HP:0000582	Upslanted palpebral fissure
9722	NOS1AP	HP:0003774	Stage 5 chronic kidney disease
9722	NOS1AP	HP:0001197	Abnormality of prenatal development or birth
9722	NOS1AP	HP:0001279	Syncope
9722	NOS1AP	HP:0001250	Seizure
9722	NOS1AP	HP:0007430	Generalized edema
9722	NOS1AP	HP:0000096	Glomerular sclerosis
9722	NOS1AP	HP:0000007	Autosomal recessive inheritance
9722	NOS1AP	HP:0031266	Podocyte foot process effacement
9722	NOS1AP	HP:0500018	Abnormal cardiac exercise stress test
9722	NOS1AP	HP:0000100	Nephrotic syndrome
9722	NOS1AP	HP:0004722	Thickened glomerular basement membrane
9722	NOS1AP	HP:0003593	Infantile onset
9722	NOS1AP	HP:0003623	Neonatal onset
9722	NOS1AP	HP:0004308	Ventricular arrhythmia
9722	NOS1AP	HP:0003075	Hypoproteinemia
9722	NOS1AP	HP:0005135	Abnormal T-wave
9722	NOS1AP	HP:0005184	Prolonged QTc interval
9722	NOS1AP	HP:0002907	Microscopic hematuria
9722	NOS1AP	HP:0002900	Hypokalemia
9722	NOS1AP	HP:0000365	Hearing impairment
9722	NOS1AP	HP:0001688	Sinus bradycardia
9722	NOS1AP	HP:0012332	Abnormal autonomic nervous system physiology
9722	NOS1AP	HP:0001664	Torsade de pointes
9722	NOS1AP	HP:0001645	Sudden cardiac death
9722	NOS1AP	HP:0012593	Nephrotic range proteinuria
9723	SEMA3E	HP:0001156	Brachydactyly
9723	SEMA3E	HP:0009906	Aplasia/Hypoplasia of the earlobes
9723	SEMA3E	HP:0008572	External ear malformation
9723	SEMA3E	HP:0008551	Microtia
9723	SEMA3E	HP:0002410	Aqueductal stenosis
9723	SEMA3E	HP:0001291	Abnormal cranial nerve morphology
9723	SEMA3E	HP:0001252	Hypotonia
9723	SEMA3E	HP:0001249	Intellectual disability
9723	SEMA3E	HP:0001263	Global developmental delay
9723	SEMA3E	HP:0002575	Tracheoesophageal fistula
9723	SEMA3E	HP:0008734	Decreased testicular size
9723	SEMA3E	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9723	SEMA3E	HP:0010978	Abnormality of immune system physiology
9723	SEMA3E	HP:0002553	Highly arched eyebrow
9723	SEMA3E	HP:0000085	Horseshoe kidney
9723	SEMA3E	HP:0000066	Labial hypoplasia
9723	SEMA3E	HP:0000076	Vesicoureteral reflux
9723	SEMA3E	HP:0000044	Hypogonadotropic hypogonadism
9723	SEMA3E	HP:0000054	Micropenis
9723	SEMA3E	HP:0000048	Bifid scrotum
9723	SEMA3E	HP:0001360	Holoprosencephaly
9723	SEMA3E	HP:0000028	Cryptorchidism
9723	SEMA3E	HP:0008897	Postnatal growth retardation
9723	SEMA3E	HP:0008872	Feeding difficulties in infancy
9723	SEMA3E	HP:0000008	Abnormal morphology of female internal genitalia
9723	SEMA3E	HP:0000007	Autosomal recessive inheritance
9723	SEMA3E	HP:0001305	Dandy-Walker malformation
9723	SEMA3E	HP:0002650	Scoliosis
9723	SEMA3E	HP:0000160	Narrow mouth
9723	SEMA3E	HP:0000175	Cleft palate
9723	SEMA3E	HP:0000126	Hydronephrosis
9723	SEMA3E	HP:0002020	Gastroesophageal reflux
9723	SEMA3E	HP:0002093	Respiratory insufficiency
9723	SEMA3E	HP:0010443	Bifid femur
9723	SEMA3E	HP:0002215	Sparse axillary hair
9723	SEMA3E	HP:0002225	Sparse pubic hair
9723	SEMA3E	HP:0100736	Abnormal soft palate morphology
9723	SEMA3E	HP:0010669	Hypoplasia of the zygomatic bone
9723	SEMA3E	HP:0007018	Attention deficit hyperactivity disorder
9723	SEMA3E	HP:0010628	Facial palsy
9723	SEMA3E	HP:0010751	Dimple chin
9723	SEMA3E	HP:0003621	Juvenile onset
9723	SEMA3E	HP:0004209	Clinodactyly of the 5th finger
9723	SEMA3E	HP:0006824	Cranial nerve paralysis
9723	SEMA3E	HP:0000639	Nystagmus
9723	SEMA3E	HP:0000632	Lacrimation abnormality
9723	SEMA3E	HP:0000648	Optic atrophy
9723	SEMA3E	HP:0000612	Iris coloboma
9723	SEMA3E	HP:0000625	Eyelid coloboma
9723	SEMA3E	HP:0011382	Hypoplasia of the semicircular canal
9723	SEMA3E	HP:0000684	Delayed eruption of teeth
9723	SEMA3E	HP:0004322	Short stature
9723	SEMA3E	HP:0030680	Abnormality of cardiovascular system morphology
9723	SEMA3E	HP:0004348	Abnormality of bone mineral density
9723	SEMA3E	HP:0000772	Abnormal rib morphology
9723	SEMA3E	HP:0000771	Gynecomastia
9723	SEMA3E	HP:0000717	Autism
9723	SEMA3E	HP:0000722	Compulsive behaviors
9723	SEMA3E	HP:0000789	Infertility
9723	SEMA3E	HP:0000786	Primary amenorrhea
9723	SEMA3E	HP:0004408	Abnormality of the sense of smell
9723	SEMA3E	HP:0000834	Abnormality of the adrenal glands
9723	SEMA3E	HP:0000830	Anterior hypopituitarism
9723	SEMA3E	HP:0000823	Delayed puberty
9723	SEMA3E	HP:0011611	Interrupted aortic arch
9723	SEMA3E	HP:0000286	Epicanthus
9723	SEMA3E	HP:0000275	Narrow face
9723	SEMA3E	HP:0005113	Aortic arch aneurysm
9723	SEMA3E	HP:0000252	Microcephaly
9723	SEMA3E	HP:0001561	Polyhydramnios
9723	SEMA3E	HP:0000204	Cleft upper lip
9723	SEMA3E	HP:0001511	Intrauterine growth retardation
9723	SEMA3E	HP:0000384	Preauricular skin tag
9723	SEMA3E	HP:0000396	Overfolded helix
9723	SEMA3E	HP:0002937	Hemivertebrae
9723	SEMA3E	HP:0001601	Laryngomalacia
9723	SEMA3E	HP:0000365	Hearing impairment
9723	SEMA3E	HP:0000359	Abnormality of the inner ear
9723	SEMA3E	HP:0000368	Low-set, posteriorly rotated ears
9723	SEMA3E	HP:0001671	Abnormal cardiac septum morphology
9723	SEMA3E	HP:0000316	Hypertelorism
9723	SEMA3E	HP:0001646	Abnormal aortic valve morphology
9723	SEMA3E	HP:0001643	Patent ductus arteriosus
9723	SEMA3E	HP:0002992	Abnormality of tibia morphology
9723	SEMA3E	HP:0000324	Facial asymmetry
9723	SEMA3E	HP:0001636	Tetralogy of Fallot
9723	SEMA3E	HP:0005280	Depressed nasal bridge
9723	SEMA3E	HP:0000486	Strabismus
9723	SEMA3E	HP:0000478	Abnormality of the eye
9723	SEMA3E	HP:0000458	Anosmia
9723	SEMA3E	HP:0000453	Choanal atresia
9723	SEMA3E	HP:0000528	Anophthalmia
9723	SEMA3E	HP:0000508	Ptosis
9723	SEMA3E	HP:0000504	Abnormality of vision
9723	SEMA3E	HP:0000568	Microphthalmia
9723	SEMA3E	HP:0000567	Chorioretinal coloboma
9723	SEMA3E	HP:0001883	Talipes
9725	TMEM63A	HP:0002421	Poor head control
9725	TMEM63A	HP:0002415	Leukodystrophy
9725	TMEM63A	HP:0001290	Generalized hypotonia
9725	TMEM63A	HP:0002599	Head titubation
9725	TMEM63A	HP:0001251	Ataxia
9725	TMEM63A	HP:0012043	Pendular nystagmus
9725	TMEM63A	HP:0000047	Hypospadias
9725	TMEM63A	HP:0001328	Specific learning disability
9725	TMEM63A	HP:0000006	Autosomal dominant inheritance
9725	TMEM63A	HP:0001310	Dysmetria
9725	TMEM63A	HP:0002080	Intention tremor
9725	TMEM63A	HP:0003487	Babinski sign
9725	TMEM63A	HP:0002188	Delayed CNS myelination
9725	TMEM63A	HP:0000648	Optic atrophy
9725	TMEM63A	HP:0031936	Delayed ability to walk
9725	TMEM63A	HP:0000545	Myopia
9731	CEP104	HP:0001161	Hand polydactyly
9731	CEP104	HP:0002419	Molar tooth sign on MRI
9731	CEP104	HP:0001290	Generalized hypotonia
9731	CEP104	HP:0001288	Gait disturbance
9731	CEP104	HP:0001250	Seizure
9731	CEP104	HP:0001252	Hypotonia
9731	CEP104	HP:0001251	Ataxia
9731	CEP104	HP:0001249	Intellectual disability
9731	CEP104	HP:0001263	Global developmental delay
9731	CEP104	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9731	CEP104	HP:0002553	Highly arched eyebrow
9731	CEP104	HP:0001388	Joint laxity
9731	CEP104	HP:0008872	Feeding difficulties in infancy
9731	CEP104	HP:0000007	Autosomal recessive inheritance
9731	CEP104	HP:0001337	Tremor
9731	CEP104	HP:0001320	Cerebellar vermis hypoplasia
9731	CEP104	HP:0002650	Scoliosis
9731	CEP104	HP:0001321	Cerebellar hypoplasia
9731	CEP104	HP:0012169	Self-biting
9731	CEP104	HP:0002793	Abnormal pattern of respiration
9731	CEP104	HP:0003312	Abnormal form of the vertebral bodies
9731	CEP104	HP:0002084	Encephalocele
9731	CEP104	HP:0002126	Polymicrogyria
9731	CEP104	HP:0002104	Apnea
9731	CEP104	HP:0003593	Infantile onset
9731	CEP104	HP:0002269	Abnormality of neuronal migration
9731	CEP104	HP:0002251	Aganglionic megacolon
9731	CEP104	HP:0001058	Poor wound healing
9731	CEP104	HP:0002346	Head tremor
9731	CEP104	HP:0002317	Unsteady gait
9731	CEP104	HP:0000639	Nystagmus
9731	CEP104	HP:0000612	Iris coloboma
9731	CEP104	HP:0000657	Oculomotor apraxia
9731	CEP104	HP:0030680	Abnormality of cardiovascular system morphology
9731	CEP104	HP:0004422	Biparietal narrowing
9731	CEP104	HP:0000864	Abnormality of the hypothalamus-pituitary axis
9731	CEP104	HP:0000276	Long face
9731	CEP104	HP:0000238	Hydrocephalus
9731	CEP104	HP:0002876	Episodic tachypnea
9731	CEP104	HP:0000202	Orofacial cleft
9731	CEP104	HP:0001696	Situs inversus totalis
9731	CEP104	HP:0000369	Low-set ears
9731	CEP104	HP:0000486	Strabismus
9731	CEP104	HP:0000463	Anteverted nares
9731	CEP104	HP:0000426	Prominent nasal bridge
9731	CEP104	HP:0000512	Abnormal electroretinogram
9731	CEP104	HP:0001829	Foot polydactyly
9731	CEP104	HP:0000508	Ptosis
9739	SETD1A	HP:0008551	Microtia
9739	SETD1A	HP:0001290	Generalized hypotonia
9739	SETD1A	HP:0001270	Motor delay
9739	SETD1A	HP:0001250	Seizure
9739	SETD1A	HP:0001249	Intellectual disability
9739	SETD1A	HP:0001263	Global developmental delay
9739	SETD1A	HP:0001382	Joint hypermobility
9739	SETD1A	HP:0001363	Craniosynostosis
9739	SETD1A	HP:0000034	Hydrocele testis
9739	SETD1A	HP:0000006	Autosomal dominant inheritance
9739	SETD1A	HP:0000154	Wide mouth
9739	SETD1A	HP:0002719	Recurrent infections
9739	SETD1A	HP:0002069	Bilateral tonic-clonic seizure
9739	SETD1A	HP:0002188	Delayed CNS myelination
9739	SETD1A	HP:0003593	Infantile onset
9739	SETD1A	HP:0100753	Schizophrenia
9739	SETD1A	HP:0011968	Feeding difficulties
9739	SETD1A	HP:0002360	Sleep disturbance
9739	SETD1A	HP:0010803	Everted upper lip vermilion
9739	SETD1A	HP:0000687	Widely spaced teeth
9739	SETD1A	HP:0004322	Short stature
9739	SETD1A	HP:0000739	Anxiety
9739	SETD1A	HP:0000736	Short attention span
9739	SETD1A	HP:0000750	Delayed speech and language development
9739	SETD1A	HP:0000718	Aggressive behavior
9739	SETD1A	HP:0000729	Autistic behavior
9739	SETD1A	HP:0011463	Childhood onset
9739	SETD1A	HP:0000286	Epicanthus
9739	SETD1A	HP:0000293	Full cheeks
9739	SETD1A	HP:0000256	Macrocephaly
9739	SETD1A	HP:0001562	Oligohydramnios
9739	SETD1A	HP:0001513	Obesity
9739	SETD1A	HP:0000365	Hearing impairment
9739	SETD1A	HP:0000369	Low-set ears
9739	SETD1A	HP:0000348	High forehead
9739	SETD1A	HP:0000316	Hypertelorism
9739	SETD1A	HP:0001655	Patent foramen ovale
9739	SETD1A	HP:0000494	Downslanted palpebral fissures
9739	SETD1A	HP:0000490	Deeply set eye
9739	SETD1A	HP:0000463	Anteverted nares
9739	SETD1A	HP:0012450	Chronic constipation
9739	SETD1A	HP:0000445	Wide nose
9739	SETD1A	HP:0000505	Visual impairment
9742	IFT140	HP:0001156	Brachydactyly
9742	IFT140	HP:0001162	Postaxial hand polydactyly
9742	IFT140	HP:0001141	Severely reduced visual acuity
9742	IFT140	HP:0003774	Stage 5 chronic kidney disease
9742	IFT140	HP:0002421	Poor head control
9742	IFT140	HP:0001256	Intellectual disability, mild
9742	IFT140	HP:0001250	Seizure
9742	IFT140	HP:0001252	Hypotonia
9742	IFT140	HP:0001251	Ataxia
9742	IFT140	HP:0001249	Intellectual disability
9742	IFT140	HP:0001263	Global developmental delay
9742	IFT140	HP:0001230	Broad metacarpals
9742	IFT140	HP:0007401	Macular atrophy
9742	IFT140	HP:0008736	Hypoplasia of penis
9742	IFT140	HP:0100864	Short femoral neck
9742	IFT140	HP:0000083	Renal insufficiency
9742	IFT140	HP:0000090	Nephronophthisis
9742	IFT140	HP:0001396	Cholestasis
9742	IFT140	HP:0001392	Abnormality of the liver
9742	IFT140	HP:0001395	Hepatic fibrosis
9742	IFT140	HP:0000073	Ureteral duplication
9742	IFT140	HP:0001347	Hyperreflexia
9742	IFT140	HP:0001363	Craniosynostosis
9742	IFT140	HP:0000035	Abnormal testis morphology
9742	IFT140	HP:0008872	Feeding difficulties in infancy
9742	IFT140	HP:0000010	Recurrent urinary tract infections
9742	IFT140	HP:0000007	Autosomal recessive inheritance
9742	IFT140	HP:0002652	Skeletal dysplasia
9742	IFT140	HP:0002644	Abnormal pelvic girdle bone morphology
9742	IFT140	HP:0002616	Aortic root aneurysm
9742	IFT140	HP:0002612	Congenital hepatic fibrosis
9742	IFT140	HP:0008905	Rhizomelia
9742	IFT140	HP:0000193	Bifid uvula
9742	IFT140	HP:0000191	Accessory oral frenulum
9742	IFT140	HP:0000158	Macroglossia
9742	IFT140	HP:0000135	Hypogonadism
9742	IFT140	HP:0000154	Wide mouth
9742	IFT140	HP:0007675	Progressive night blindness
9742	IFT140	HP:0000110	Renal dysplasia
9742	IFT140	HP:0000112	Nephropathy
9742	IFT140	HP:0000107	Renal cyst
9742	IFT140	HP:0001433	Hepatosplenomegaly
9742	IFT140	HP:0000105	Enlarged kidney
9742	IFT140	HP:0001407	Hepatic cysts
9742	IFT140	HP:0002007	Frontal bossing
9742	IFT140	HP:0005978	Type II diabetes mellitus
9742	IFT140	HP:0002084	Encephalocele
9742	IFT140	HP:0002093	Respiratory insufficiency
9742	IFT140	HP:0002079	Hypoplasia of the corpus callosum
9742	IFT140	HP:0011760	Pituitary growth hormone cell adenoma
9742	IFT140	HP:0002119	Ventriculomegaly
9742	IFT140	HP:0009576	Absent middle phalanx of 2nd finger
9742	IFT140	HP:0010579	Cone-shaped epiphysis
9742	IFT140	HP:0003593	Infantile onset
9742	IFT140	HP:0002269	Abnormality of neuronal migration
9742	IFT140	HP:0003577	Congenital onset
9742	IFT140	HP:0002240	Hepatomegaly
9742	IFT140	HP:0100702	Arachnoid cyst
9742	IFT140	HP:0002236	Frontal upsweep of hair
9742	IFT140	HP:0002209	Sparse scalp hair
9742	IFT140	HP:0002205	Recurrent respiratory infections
9742	IFT140	HP:0002286	Fair hair
9742	IFT140	HP:0009803	Short phalanx of finger
9742	IFT140	HP:0010743	Short metatarsal
9742	IFT140	HP:0003621	Juvenile onset
9742	IFT140	HP:0004944	Dilatation of the cerebral artery
9742	IFT140	HP:0004209	Clinodactyly of the 5th finger
9742	IFT140	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
9742	IFT140	HP:0005565	Reduced renal corticomedullary differentiation
9742	IFT140	HP:0012622	Chronic kidney disease
9742	IFT140	HP:0000639	Nystagmus
9742	IFT140	HP:0000648	Optic atrophy
9742	IFT140	HP:0000618	Blindness
9742	IFT140	HP:0000613	Photophobia
9742	IFT140	HP:0000608	Macular degeneration
9742	IFT140	HP:0000602	Ophthalmoplegia
9742	IFT140	HP:0001903	Anemia
9742	IFT140	HP:0001919	Acute kidney injury
9742	IFT140	HP:0000691	Microdontia
9742	IFT140	HP:0000687	Widely spaced teeth
9742	IFT140	HP:0000662	Nyctalopia
9742	IFT140	HP:0004322	Short stature
9742	IFT140	HP:0004374	Hemiplegia/hemiparesis
9742	IFT140	HP:0000772	Abnormal rib morphology
9742	IFT140	HP:0000766	Abnormal sternum morphology
9742	IFT140	HP:0000729	Autistic behavior
9742	IFT140	HP:0009162	Absent middle phalanx of 5th finger
9742	IFT140	HP:0012795	Abnormal optic disc morphology
9742	IFT140	HP:0011463	Childhood onset
9742	IFT140	HP:0011462	Young adult onset
9742	IFT140	HP:0000774	Narrow chest
9742	IFT140	HP:0000773	Short ribs
9742	IFT140	HP:0000790	Hematuria
9742	IFT140	HP:0000787	Nephrolithiasis
9742	IFT140	HP:0030799	Scaphocephaly
9742	IFT140	HP:0034281	Phalangeal cone-shaped epiphyses
9742	IFT140	HP:0000889	Abnormal clavicle morphology
9742	IFT140	HP:0000842	Hyperinsulinemia
9742	IFT140	HP:0003090	Hypoplasia of the capital femoral epiphysis
9742	IFT140	HP:0000822	Hypertension
9742	IFT140	HP:0040022	Clinodactyly of the 2nd finger
9742	IFT140	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
9742	IFT140	HP:0003259	Elevated circulating creatinine concentration
9742	IFT140	HP:0010306	Short thorax
9742	IFT140	HP:0000973	Cutis laxa
9742	IFT140	HP:0000987	Atypical scarring of skin
9742	IFT140	HP:0000969	Edema
9742	IFT140	HP:0000963	Thin skin
9742	IFT140	HP:0000938	Osteopenia
9742	IFT140	HP:0000944	Abnormal metaphysis morphology
9742	IFT140	HP:0005819	Short middle phalanx of finger
9742	IFT140	HP:0008046	Abnormal retinal vascular morphology
9742	IFT140	HP:0007703	Abnormality of retinal pigmentation
9742	IFT140	HP:0000286	Epicanthus
9742	IFT140	HP:0000293	Full cheeks
9742	IFT140	HP:0000260	Wide anterior fontanel
9742	IFT140	HP:0007737	Bone spicule pigmentation of the retina
9742	IFT140	HP:0000243	Trigonocephaly
9742	IFT140	HP:0000252	Microcephaly
9742	IFT140	HP:0012213	Decreased glomerular filtration rate
9742	IFT140	HP:0012207	Reduced sperm motility
9742	IFT140	HP:0000218	High palate
9742	IFT140	HP:0001537	Umbilical hernia
9742	IFT140	HP:0001508	Failure to thrive
9742	IFT140	HP:0001513	Obesity
9742	IFT140	HP:0007843	Attenuation of retinal blood vessels
9742	IFT140	HP:0005257	Thoracic hypoplasia
9742	IFT140	HP:0006557	Polycystic liver disease
9742	IFT140	HP:0000365	Hearing impairment
9742	IFT140	HP:0000358	Posteriorly rotated ears
9742	IFT140	HP:0011004	Abnormal systemic arterial morphology
9742	IFT140	HP:0000369	Low-set ears
9742	IFT140	HP:0000341	Narrow forehead
9742	IFT140	HP:0012330	Pyelonephritis
9742	IFT140	HP:0000348	High forehead
9742	IFT140	HP:0000347	Micrognathia
9742	IFT140	HP:0002983	Micromelia
9742	IFT140	HP:0000319	Smooth philtrum
9742	IFT140	HP:0000316	Hypertelorism
9742	IFT140	HP:0030151	Cholangitis
9742	IFT140	HP:0001634	Mitral valve prolapse
9742	IFT140	HP:0032988	Persistent head lag
9742	IFT140	HP:0007994	Peripheral visual field loss
9742	IFT140	HP:0000407	Sensorineural hearing impairment
9742	IFT140	HP:0001737	Pancreatic cysts
9742	IFT140	HP:0000405	Conductive hearing impairment
9742	IFT140	HP:0005280	Depressed nasal bridge
9742	IFT140	HP:0000463	Anteverted nares
9742	IFT140	HP:0000470	Short neck
9742	IFT140	HP:0001770	Toe syndactyly
9742	IFT140	HP:0001773	Short foot
9742	IFT140	HP:0000431	Wide nasal bridge
9742	IFT140	HP:0006703	Aplasia/Hypoplasia of the lungs
9742	IFT140	HP:0005487	Prominent metopic ridge
9742	IFT140	HP:0000518	Cataract
9742	IFT140	HP:0000510	Rod-cone dystrophy
9742	IFT140	HP:0000512	Abnormal electroretinogram
9742	IFT140	HP:0000529	Progressive visual loss
9742	IFT140	HP:0000505	Visual impairment
9742	IFT140	HP:0001830	Postaxial foot polydactyly
9742	IFT140	HP:0000501	Glaucoma
9742	IFT140	HP:0001831	Short toe
9742	IFT140	HP:0012591	Abnormal urinary electrolyte concentration
9742	IFT140	HP:0012592	Albuminuria
9742	IFT140	HP:0000582	Upslanted palpebral fissure
9742	IFT140	HP:0000563	Keratoconus
9742	IFT140	HP:0011220	Prominent forehead
9742	IFT140	HP:0000556	Retinal dystrophy
9742	IFT140	HP:0000572	Visual loss
9742	IFT140	HP:0012531	Pain
9742	IFT140	HP:0000550	Undetectable electroretinogram
9750	RIPOR2	HP:0002403	Positive Romberg sign
9750	RIPOR2	HP:0001263	Global developmental delay
9750	RIPOR2	HP:0000007	Autosomal recessive inheritance
9750	RIPOR2	HP:0000006	Autosomal dominant inheritance
9750	RIPOR2	HP:0003596	Middle age onset
9750	RIPOR2	HP:0003577	Congenital onset
9750	RIPOR2	HP:0003623	Neonatal onset
9750	RIPOR2	HP:0003621	Juvenile onset
9750	RIPOR2	HP:0000639	Nystagmus
9750	RIPOR2	HP:0011463	Childhood onset
9750	RIPOR2	HP:0011462	Young adult onset
9750	RIPOR2	HP:0004463	Absent brainstem auditory responses
9750	RIPOR2	HP:0000399	Prelingual sensorineural hearing impairment
9750	RIPOR2	HP:0000407	Sensorineural hearing impairment
9750	RIPOR2	HP:0001751	Abnormal vestibular function
9757	KMT2B	HP:0002465	Poor speech
9757	KMT2B	HP:0007325	Generalized dystonia
9757	KMT2B	HP:0007256	Abnormal pyramidal sign
9757	KMT2B	HP:0010864	Intellectual disability, severe
9757	KMT2B	HP:0002425	Anarthria
9757	KMT2B	HP:0001270	Motor delay
9757	KMT2B	HP:0001288	Gait disturbance
9757	KMT2B	HP:0001256	Intellectual disability, mild
9757	KMT2B	HP:0001252	Hypotonia
9757	KMT2B	HP:0001249	Intellectual disability
9757	KMT2B	HP:0001260	Dysarthria
9757	KMT2B	HP:0001263	Global developmental delay
9757	KMT2B	HP:0001257	Spasticity
9757	KMT2B	HP:0002544	Retrocollis
9757	KMT2B	HP:0003829	Typified by incomplete penetrance
9757	KMT2B	HP:0001397	Hepatic steatosis
9757	KMT2B	HP:0012048	Oromandibular dystonia
9757	KMT2B	HP:0012049	Laryngeal dystonia
9757	KMT2B	HP:0000020	Urinary incontinence
9757	KMT2B	HP:0001332	Dystonia
9757	KMT2B	HP:0001337	Tremor
9757	KMT2B	HP:0000006	Autosomal dominant inheritance
9757	KMT2B	HP:0001336	Myoclonus
9757	KMT2B	HP:0012179	Craniofacial dystonia
9757	KMT2B	HP:0000154	Wide mouth
9757	KMT2B	HP:0002719	Recurrent infections
9757	KMT2B	HP:0002020	Gastroesophageal reflux
9757	KMT2B	HP:0002019	Constipation
9757	KMT2B	HP:0004691	2-3 toe syndactyly
9757	KMT2B	HP:0002015	Dysphagia
9757	KMT2B	HP:0002007	Frontal bossing
9757	KMT2B	HP:0100543	Cognitive impairment
9757	KMT2B	HP:0100704	Cerebral visual impairment
9757	KMT2B	HP:0007018	Attention deficit hyperactivity disorder
9757	KMT2B	HP:0011968	Feeding difficulties
9757	KMT2B	HP:0003676	Progressive
9757	KMT2B	HP:0003621	Juvenile onset
9757	KMT2B	HP:0004209	Clinodactyly of the 5th finger
9757	KMT2B	HP:0004283	Narrow palm
9757	KMT2B	HP:0000639	Nystagmus
9757	KMT2B	HP:0000629	Periorbital fullness
9757	KMT2B	HP:0010055	Broad hallux
9757	KMT2B	HP:0011344	Severe global developmental delay
9757	KMT2B	HP:0004322	Short stature
9757	KMT2B	HP:0031959	Leg dystonia
9757	KMT2B	HP:0031960	Arm dystonia
9757	KMT2B	HP:0034197	Third trimester onset
9757	KMT2B	HP:0000739	Anxiety
9757	KMT2B	HP:0000750	Delayed speech and language development
9757	KMT2B	HP:0000716	Depression
9757	KMT2B	HP:0000729	Autistic behavior
9757	KMT2B	HP:0009183	Joint contracture of the 5th finger
9757	KMT2B	HP:0011463	Childhood onset
9757	KMT2B	HP:0012758	Neurodevelopmental delay
9757	KMT2B	HP:0003186	Inverted nipples
9757	KMT2B	HP:0000826	Precocious puberty
9757	KMT2B	HP:0000821	Hypothyroidism
9757	KMT2B	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging
9757	KMT2B	HP:0008070	Sparse hair
9757	KMT2B	HP:0000286	Epicanthus
9757	KMT2B	HP:0000278	Retrognathia
9757	KMT2B	HP:0000293	Full cheeks
9757	KMT2B	HP:0000276	Long face
9757	KMT2B	HP:0000252	Microcephaly
9757	KMT2B	HP:0000218	High palate
9757	KMT2B	HP:0030051	Tip-toe gait
9757	KMT2B	HP:0001511	Intrauterine growth retardation
9757	KMT2B	HP:0000387	Absent earlobe
9757	KMT2B	HP:0001618	Dysphonia
9757	KMT2B	HP:0000358	Posteriorly rotated ears
9757	KMT2B	HP:0001643	Patent ductus arteriosus
9757	KMT2B	HP:0000483	Astigmatism
9757	KMT2B	HP:0000486	Strabismus
9757	KMT2B	HP:0000496	Abnormality of eye movement
9757	KMT2B	HP:0000490	Deeply set eye
9757	KMT2B	HP:0000473	Torticollis
9757	KMT2B	HP:0000414	Bulbous nose
9757	KMT2B	HP:0000508	Ptosis
9757	KMT2B	HP:0000540	Hypermetropia
9758	FRMPD4	HP:0001250	Seizure
9758	FRMPD4	HP:0001251	Ataxia
9758	FRMPD4	HP:0001249	Intellectual disability
9758	FRMPD4	HP:0001263	Global developmental delay
9758	FRMPD4	HP:0001257	Spasticity
9758	FRMPD4	HP:0001347	Hyperreflexia
9758	FRMPD4	HP:0001344	Absent speech
9758	FRMPD4	HP:0001337	Tremor
9758	FRMPD4	HP:0001419	X-linked recessive inheritance
9758	FRMPD4	HP:0002079	Hypoplasia of the corpus callosum
9758	FRMPD4	HP:0002120	Cerebral cortical atrophy
9758	FRMPD4	HP:0002188	Delayed CNS myelination
9758	FRMPD4	HP:0002194	Delayed gross motor development
9758	FRMPD4	HP:0003593	Infantile onset
9758	FRMPD4	HP:0002236	Frontal upsweep of hair
9758	FRMPD4	HP:0000639	Nystagmus
9758	FRMPD4	HP:0000648	Optic atrophy
9758	FRMPD4	HP:0031936	Delayed ability to walk
9758	FRMPD4	HP:0000752	Hyperactivity
9758	FRMPD4	HP:0000750	Delayed speech and language development
9758	FRMPD4	HP:0000718	Aggressive behavior
9758	FRMPD4	HP:0000729	Autistic behavior
9758	FRMPD4	HP:0000278	Retrognathia
9758	FRMPD4	HP:0000243	Trigonocephaly
9758	FRMPD4	HP:0000218	High palate
9758	FRMPD4	HP:0000377	Abnormal pinna morphology
9758	FRMPD4	HP:0000348	High forehead
9758	FRMPD4	HP:0000486	Strabismus
9758	FRMPD4	HP:0000456	Bifid nasal tip
9758	FRMPD4	HP:0000431	Wide nasal bridge
9759	HDAC4	HP:0001187	Hyperextensibility of the finger joints
9759	HDAC4	HP:0001156	Brachydactyly
9759	HDAC4	HP:0001272	Cerebellar atrophy
9759	HDAC4	HP:0001250	Seizure
9759	HDAC4	HP:0001252	Hypotonia
9759	HDAC4	HP:0001249	Intellectual disability
9759	HDAC4	HP:0001265	Hyporeflexia
9759	HDAC4	HP:0001263	Global developmental delay
9759	HDAC4	HP:0002558	Supernumerary nipple
9759	HDAC4	HP:0006101	Finger syndactyly
9759	HDAC4	HP:0002553	Highly arched eyebrow
9759	HDAC4	HP:0001374	Congenital hip dislocation
9759	HDAC4	HP:0000028	Cryptorchidism
9759	HDAC4	HP:0008826	Dislocation of the femoral head
9759	HDAC4	HP:0033725	Thin corpus callosum
9759	HDAC4	HP:0001344	Absent speech
9759	HDAC4	HP:0002667	Nephroblastoma
9759	HDAC4	HP:0000003	Multicystic kidney dysplasia
9759	HDAC4	HP:0000006	Autosomal dominant inheritance
9759	HDAC4	HP:0002650	Scoliosis
9759	HDAC4	HP:0000179	Thick lower lip vermilion
9759	HDAC4	HP:0001476	Delayed closure of the anterior fontanelle
9759	HDAC4	HP:0007598	Bilateral single transverse palmar creases
9759	HDAC4	HP:0002779	Tracheomalacia
9759	HDAC4	HP:0000126	Hydronephrosis
9759	HDAC4	HP:0001428	Somatic mutation
9759	HDAC4	HP:0002714	Downturned corners of mouth
9759	HDAC4	HP:0002021	Pyloric stenosis
9759	HDAC4	HP:0002007	Frontal bossing
9759	HDAC4	HP:0011800	Midface retrusion
9759	HDAC4	HP:0002059	Cerebral atrophy
9759	HDAC4	HP:0002119	Ventriculomegaly
9759	HDAC4	HP:0002104	Apnea
9759	HDAC4	HP:0003593	Infantile onset
9759	HDAC4	HP:0003577	Congenital onset
9759	HDAC4	HP:0002236	Frontal upsweep of hair
9759	HDAC4	HP:0100716	Self-injurious behavior
9759	HDAC4	HP:0002209	Sparse scalp hair
9759	HDAC4	HP:0007021	Pain insensitivity
9759	HDAC4	HP:0007018	Attention deficit hyperactivity disorder
9759	HDAC4	HP:0011968	Feeding difficulties
9759	HDAC4	HP:0002360	Sleep disturbance
9759	HDAC4	HP:0009803	Short phalanx of finger
9759	HDAC4	HP:0200055	Small hand
9759	HDAC4	HP:0010761	Broad columella
9759	HDAC4	HP:0010743	Short metatarsal
9759	HDAC4	HP:0003623	Neonatal onset
9759	HDAC4	HP:0002307	Drooling
9759	HDAC4	HP:0004209	Clinodactyly of the 5th finger
9759	HDAC4	HP:0004279	Short palm
9759	HDAC4	HP:0000637	Long palpebral fissure
9759	HDAC4	HP:0000646	Amblyopia
9759	HDAC4	HP:0010049	Short metacarpal
9759	HDAC4	HP:0000684	Delayed eruption of teeth
9759	HDAC4	HP:0000687	Widely spaced teeth
9759	HDAC4	HP:0004322	Short stature
9759	HDAC4	HP:0030680	Abnormality of cardiovascular system morphology
9759	HDAC4	HP:0005692	Joint hyperflexibility
9759	HDAC4	HP:0031936	Delayed ability to walk
9759	HDAC4	HP:0000752	Hyperactivity
9759	HDAC4	HP:0000768	Pectus carinatum
9759	HDAC4	HP:0000733	Abnormal repetitive mannerisms
9759	HDAC4	HP:0000750	Delayed speech and language development
9759	HDAC4	HP:0000718	Aggressive behavior
9759	HDAC4	HP:0000717	Autism
9759	HDAC4	HP:0000722	Compulsive behaviors
9759	HDAC4	HP:0000708	Atypical behavior
9759	HDAC4	HP:0011463	Childhood onset
9759	HDAC4	HP:0000776	Congenital diaphragmatic hernia
9759	HDAC4	HP:0045075	Sparse eyebrow
9759	HDAC4	HP:0000964	Eczema
9759	HDAC4	HP:0045025	Narrow palpebral fissure
9759	HDAC4	HP:0011675	Arrhythmia
9759	HDAC4	HP:0000283	Broad face
9759	HDAC4	HP:0000280	Coarse facial features
9759	HDAC4	HP:0000256	Macrocephaly
9759	HDAC4	HP:0000272	Malar flattening
9759	HDAC4	HP:0002808	Kyphosis
9759	HDAC4	HP:0000252	Microcephaly
9759	HDAC4	HP:0000248	Brachycephaly
9759	HDAC4	HP:0000233	Thin vermilion border
9759	HDAC4	HP:0001537	Umbilical hernia
9759	HDAC4	HP:0001513	Obesity
9759	HDAC4	HP:0001601	Laryngomalacia
9759	HDAC4	HP:0001682	Subvalvular aortic stenosis
9759	HDAC4	HP:0001679	Abnormal aortic morphology
9759	HDAC4	HP:0000316	Hypertelorism
9759	HDAC4	HP:0001643	Patent ductus arteriosus
9759	HDAC4	HP:0000311	Round face
9759	HDAC4	HP:0006610	Wide intermamillary distance
9759	HDAC4	HP:0000407	Sensorineural hearing impairment
9759	HDAC4	HP:0000405	Conductive hearing impairment
9759	HDAC4	HP:0000400	Macrotia
9759	HDAC4	HP:0005280	Depressed nasal bridge
9759	HDAC4	HP:0000483	Astigmatism
9759	HDAC4	HP:0012469	Infantile spasms
9759	HDAC4	HP:0000490	Deeply set eye
9759	HDAC4	HP:0000463	Anteverted nares
9759	HDAC4	HP:0000455	Broad nasal tip
9759	HDAC4	HP:0000470	Short neck
9759	HDAC4	HP:0001770	Toe syndactyly
9759	HDAC4	HP:0001773	Short foot
9759	HDAC4	HP:0000445	Wide nose
9759	HDAC4	HP:0000430	Underdeveloped nasal alae
9759	HDAC4	HP:0001831	Short toe
9759	HDAC4	HP:0000582	Upslanted palpebral fissure
9759	HDAC4	HP:0000581	Blepharophimosis
9772	TMEM94	HP:0008577	Underfolded helix
9772	TMEM94	HP:0001290	Generalized hypotonia
9772	TMEM94	HP:0100807	Long fingers
9772	TMEM94	HP:0001270	Motor delay
9772	TMEM94	HP:0001263	Global developmental delay
9772	TMEM94	HP:0002566	Intestinal malrotation
9772	TMEM94	HP:0007359	Focal-onset seizure
9772	TMEM94	HP:0002553	Highly arched eyebrow
9772	TMEM94	HP:0000047	Hypospadias
9772	TMEM94	HP:0000028	Cryptorchidism
9772	TMEM94	HP:0001328	Specific learning disability
9772	TMEM94	HP:0000007	Autosomal recessive inheritance
9772	TMEM94	HP:0002650	Scoliosis
9772	TMEM94	HP:0002020	Gastroesophageal reflux
9772	TMEM94	HP:0002089	Pulmonary hypoplasia
9772	TMEM94	HP:0002069	Bilateral tonic-clonic seizure
9772	TMEM94	HP:0010557	Overlapping fingers
9772	TMEM94	HP:0010511	Long toe
9772	TMEM94	HP:0002263	Exaggerated cupid's bow
9772	TMEM94	HP:0003577	Congenital onset
9772	TMEM94	HP:0002205	Recurrent respiratory infections
9772	TMEM94	HP:0009748	Large earlobe
9772	TMEM94	HP:0007099	Chiari type I malformation
9772	TMEM94	HP:0004935	Pulmonary artery atresia
9772	TMEM94	HP:0030451	Mesenteric cyst
9772	TMEM94	HP:0000664	Synophrys
9772	TMEM94	HP:0031936	Delayed ability to walk
9772	TMEM94	HP:0000767	Pectus excavatum
9772	TMEM94	HP:0012725	Cutaneous syndactyly
9772	TMEM94	HP:0000750	Delayed speech and language development
9772	TMEM94	HP:0003196	Short nose
9772	TMEM94	HP:0011571	Parachute mitral valve
9772	TMEM94	HP:0000998	Hypertrichosis
9772	TMEM94	HP:0000256	Macrocephaly
9772	TMEM94	HP:0000219	Thin upper lip vermilion
9772	TMEM94	HP:0001539	Omphalocele
9772	TMEM94	HP:0000358	Posteriorly rotated ears
9772	TMEM94	HP:0000369	Low-set ears
9772	TMEM94	HP:0000343	Long philtrum
9772	TMEM94	HP:0000319	Smooth philtrum
9772	TMEM94	HP:0000316	Hypertelorism
9772	TMEM94	HP:0001643	Patent ductus arteriosus
9772	TMEM94	HP:0000322	Short philtrum
9772	TMEM94	HP:0000325	Triangular face
9772	TMEM94	HP:0001655	Patent foramen ovale
9772	TMEM94	HP:0001629	Ventricular septal defect
9772	TMEM94	HP:0001636	Tetralogy of Fallot
9772	TMEM94	HP:0000307	Pointed chin
9772	TMEM94	HP:0001631	Atrial septal defect
9772	TMEM94	HP:0006610	Wide intermamillary distance
9772	TMEM94	HP:0001719	Double outlet right ventricle
9772	TMEM94	HP:0005280	Depressed nasal bridge
9772	TMEM94	HP:0000486	Strabismus
9772	TMEM94	HP:0000490	Deeply set eye
9772	TMEM94	HP:0000463	Anteverted nares
9772	TMEM94	HP:0000465	Webbed neck
9772	TMEM94	HP:0000448	Prominent nose
9772	TMEM94	HP:0000431	Wide nasal bridge
9772	TMEM94	HP:0001845	Overlapping toe
9772	TMEM94	HP:0000545	Myopia
9775	EIF4A3	HP:0001263	Global developmental delay
9775	EIF4A3	HP:0001245	Small thenar eminence
9775	EIF4A3	HP:0008753	Aplasia of the epiglottis
9775	EIF4A3	HP:0008744	Abnormal aryepiglottic fold morphology
9775	EIF4A3	HP:0008807	Acetabular dysplasia
9775	EIF4A3	HP:0000007	Autosomal recessive inheritance
9775	EIF4A3	HP:0000193	Bifid uvula
9775	EIF4A3	HP:0000160	Narrow mouth
9775	EIF4A3	HP:0000175	Cleft palate
9775	EIF4A3	HP:0005011	Mesomelic arm shortening
9775	EIF4A3	HP:0006355	Agenesis of mandibular central incisor
9775	EIF4A3	HP:0010487	Small hypothenar eminence
9775	EIF4A3	HP:0009486	Radial deviation of the hand
9775	EIF4A3	HP:0009623	Proximal placement of thumb
9775	EIF4A3	HP:0100499	Tibial deviation of toes
9775	EIF4A3	HP:0003577	Congenital onset
9775	EIF4A3	HP:0011968	Feeding difficulties
9775	EIF4A3	HP:0004987	Mesomelic leg shortening
9775	EIF4A3	HP:0009803	Short phalanx of finger
9775	EIF4A3	HP:0010752	Cleft mandible
9775	EIF4A3	HP:0009778	Short thumb
9775	EIF4A3	HP:0004209	Clinodactyly of the 5th finger
9775	EIF4A3	HP:0009094	Cleft lower alveolar ridge
9775	EIF4A3	HP:0010049	Short metacarpal
9775	EIF4A3	HP:0004322	Short stature
9775	EIF4A3	HP:0003038	Fibular hypoplasia
9775	EIF4A3	HP:0000750	Delayed speech and language development
9775	EIF4A3	HP:0010109	Short hallux
9775	EIF4A3	HP:0005736	Short tibia
9775	EIF4A3	HP:0009237	Short 5th finger
9775	EIF4A3	HP:0005867	4-5 metacarpal synostosis
9775	EIF4A3	HP:0002827	Hip dislocation
9775	EIF4A3	HP:0000218	High palate
9775	EIF4A3	HP:0000201	Pierre-Robin sequence
9775	EIF4A3	HP:0030043	Hip subluxation
9775	EIF4A3	HP:0001608	Abnormality of the voice
9775	EIF4A3	HP:0000369	Low-set ears
9775	EIF4A3	HP:0000347	Micrognathia
9775	EIF4A3	HP:0002984	Hypoplasia of the radius
9775	EIF4A3	HP:0000308	Microretrognathia
9775	EIF4A3	HP:0000448	Prominent nose
9775	EIF4A3	HP:0000411	Protruding ear
9775	EIF4A3	HP:0001762	Talipes equinovarus
9780	PIEZO1	HP:0002593	Intestinal lymphangiectasia
9780	PIEZO1	HP:0001263	Global developmental delay
9780	PIEZO1	HP:0007430	Generalized edema
9780	PIEZO1	HP:0010972	Anemia of inadequate production
9780	PIEZO1	HP:0000034	Hydrocele testis
9780	PIEZO1	HP:0031188	Genital edema
9780	PIEZO1	HP:0000007	Autosomal recessive inheritance
9780	PIEZO1	HP:0000006	Autosomal dominant inheritance
9780	PIEZO1	HP:0002650	Scoliosis
9780	PIEZO1	HP:0002619	Varicose veins
9780	PIEZO1	HP:0002625	Deep venous thrombosis
9780	PIEZO1	HP:0025435	Increased circulating lactate dehydrogenase concentration
9780	PIEZO1	HP:0012115	Hepatitis
9780	PIEZO1	HP:0002020	Gastroesophageal reflux
9780	PIEZO1	HP:0002027	Abdominal pain
9780	PIEZO1	HP:0100539	Periorbital edema
9780	PIEZO1	HP:0030950	Pulmonary venous hypertension
9780	PIEZO1	HP:0008269	Increased red cell hemolysis by shear stress
9780	PIEZO1	HP:0003573	Increased total bilirubin
9780	PIEZO1	HP:0002240	Hepatomegaly
9780	PIEZO1	HP:0002202	Pleural effusion
9780	PIEZO1	HP:0020063	Increased hemoglobin concentration
9780	PIEZO1	HP:0004804	Congenital hemolytic anemia
9780	PIEZO1	HP:0001046	Intermittent jaundice
9780	PIEZO1	HP:0001004	Lymphedema
9780	PIEZO1	HP:0100658	Cellulitis
9780	PIEZO1	HP:0001081	Cholelithiasis
9780	PIEZO1	HP:0003641	Hemoglobinuria
9780	PIEZO1	HP:0032106	Conjunctival icterus
9780	PIEZO1	HP:0005535	Exercise-induced hemolysis
9780	PIEZO1	HP:0005518	Increased mean corpuscular volume
9780	PIEZO1	HP:0005502	Increased red cell osmotic fragility
9780	PIEZO1	HP:0001981	Schistocytosis
9780	PIEZO1	HP:0001972	Macrocytic anemia
9780	PIEZO1	HP:0001923	Reticulocytosis
9780	PIEZO1	HP:0001930	Nonspherocytic hemolytic anemia
9780	PIEZO1	HP:0001907	Thromboembolism
9780	PIEZO1	HP:0001901	Polycythemia
9780	PIEZO1	HP:0004322	Short stature
9780	PIEZO1	HP:0004392	Prune belly
9780	PIEZO1	HP:0000767	Pectus excavatum
9780	PIEZO1	HP:0000821	Hypothyroidism
9780	PIEZO1	HP:0003281	Increased circulating ferritin concentration
9780	PIEZO1	HP:0003265	Neonatal hyperbilirubinemia
9780	PIEZO1	HP:0010310	Chylothorax
9780	PIEZO1	HP:0000980	Pallor
9780	PIEZO1	HP:0000952	Jaundice
9780	PIEZO1	HP:0000969	Edema
9780	PIEZO1	HP:0000286	Epicanthus
9780	PIEZO1	HP:0000282	Facial edema
9780	PIEZO1	HP:0025548	Increased mean corpuscular hemoglobin concentration
9780	PIEZO1	HP:0001561	Polyhydramnios
9780	PIEZO1	HP:0001541	Ascites
9780	PIEZO1	HP:0011042	Abnormal blood potassium concentration
9780	PIEZO1	HP:0000378	Cupped ear
9780	PIEZO1	HP:0000377	Abnormal pinna morphology
9780	PIEZO1	HP:0000365	Hearing impairment
9780	PIEZO1	HP:0000347	Micrognathia
9780	PIEZO1	HP:0001631	Atrial septal defect
9780	PIEZO1	HP:0001790	Nonimmune hydrops fetalis
9780	PIEZO1	HP:0030242	Portal vein thrombosis
9780	PIEZO1	HP:0000465	Webbed neck
9780	PIEZO1	HP:0012431	Episodic fatigue
9780	PIEZO1	HP:0001744	Splenomegaly
9780	PIEZO1	HP:0001878	Hemolytic anemia
9782	MATR3	HP:0002483	Bulbar signs
9782	MATR3	HP:0002460	Distal muscle weakness
9782	MATR3	HP:0003738	Exercise-induced myalgia
9782	MATR3	HP:0001283	Bulbar palsy
9782	MATR3	HP:0001260	Dysarthria
9782	MATR3	HP:0001257	Spasticity
9782	MATR3	HP:0008756	Bowing of the vocal cords
9782	MATR3	HP:0007373	Motor neuron atrophy
9782	MATR3	HP:0007354	Amyotrophic lateral sclerosis
9782	MATR3	HP:0003805	Rimmed vacuoles
9782	MATR3	HP:0001347	Hyperreflexia
9782	MATR3	HP:0000006	Autosomal dominant inheritance
9782	MATR3	HP:0025425	Laryngospasm
9782	MATR3	HP:0002795	Abnormal respiratory system physiology
9782	MATR3	HP:0001430	Abnormality of the calf musculature
9782	MATR3	HP:0002747	Respiratory insufficiency due to muscle weakness
9782	MATR3	HP:0002017	Nausea and vomiting
9782	MATR3	HP:0002015	Dysphagia
9782	MATR3	HP:0003324	Generalized muscle weakness
9782	MATR3	HP:0002094	Dyspnea
9782	MATR3	HP:0003394	Muscle spasm
9782	MATR3	HP:0005934	Imperfect vocal cord adduction
9782	MATR3	HP:0008180	Mildly elevated creatine kinase
9782	MATR3	HP:0003470	Paralysis
9782	MATR3	HP:0003457	EMG abnormality
9782	MATR3	HP:0002127	Abnormal upper motor neuron morphology
9782	MATR3	HP:0002180	Neurodegeneration
9782	MATR3	HP:0003596	Middle age onset
9782	MATR3	HP:0003581	Adult onset
9782	MATR3	HP:0003547	Shoulder girdle muscle weakness
9782	MATR3	HP:0003557	Increased variability in muscle fiber diameter
9782	MATR3	HP:0430015	Abnormal morphology of musculature of pharynx
9782	MATR3	HP:0002366	Abnormal lower motor neuron morphology
9782	MATR3	HP:0002355	Difficulty walking
9782	MATR3	HP:0003687	Centrally nucleated skeletal muscle fibers
9782	MATR3	HP:0002317	Unsteady gait
9782	MATR3	HP:0007149	Distal upper limb amyotrophy
9782	MATR3	HP:0009071	Inflammatory myopathy
9782	MATR3	HP:0009053	Distal lower limb muscle weakness
9782	MATR3	HP:0000762	Decreased nerve conduction velocity
9782	MATR3	HP:0000739	Anxiety
9782	MATR3	HP:0000716	Depression
9782	MATR3	HP:0000712	Emotional lability
9782	MATR3	HP:0000713	Agitation
9782	MATR3	HP:0000726	Dementia
9782	MATR3	HP:0011462	Young adult onset
9782	MATR3	HP:0003236	Elevated circulating creatine kinase concentration
9782	MATR3	HP:0003202	Skeletal muscle atrophy
9782	MATR3	HP:0008049	Abnormality of the extraocular muscles
9782	MATR3	HP:0000217	Xerostomia
9782	MATR3	HP:0002878	Respiratory failure
9782	MATR3	HP:0031374	Ankle weakness
9782	MATR3	HP:0002835	Aspiration
9782	MATR3	HP:0012378	Fatigue
9782	MATR3	HP:0001609	Hoarse voice
9782	MATR3	HP:0002936	Distal sensory impairment
9782	MATR3	HP:0001604	Vocal cord paresis
9782	MATR3	HP:0030196	Fatigable weakness of respiratory muscles
9782	MATR3	HP:0030195	Fatigable weakness of swallowing muscles
9782	MATR3	HP:0030192	Fatigable weakness of bulbar muscles
9782	MATR3	HP:0001611	Hypernasal speech
9782	MATR3	HP:0001621	Weak voice
9782	MATR3	HP:0030237	Hand muscle weakness
9782	MATR3	HP:0012531	Pain
9785	DHX38	HP:0001116	Macular coloboma
9785	DHX38	HP:0001249	Intellectual disability
9785	DHX38	HP:0007401	Macular atrophy
9785	DHX38	HP:0008736	Hypoplasia of penis
9785	DHX38	HP:0001347	Hyperreflexia
9785	DHX38	HP:0000035	Abnormal testis morphology
9785	DHX38	HP:0000007	Autosomal recessive inheritance
9785	DHX38	HP:0000135	Hypogonadism
9785	DHX38	HP:0007675	Progressive night blindness
9785	DHX38	HP:0005978	Type II diabetes mellitus
9785	DHX38	HP:0030553	Visual acuity no light perception
9785	DHX38	HP:0000639	Nystagmus
9785	DHX38	HP:0000648	Optic atrophy
9785	DHX38	HP:0000618	Blindness
9785	DHX38	HP:0000613	Photophobia
9785	DHX38	HP:0000602	Ophthalmoplegia
9785	DHX38	HP:0000662	Nyctalopia
9785	DHX38	HP:0011463	Childhood onset
9785	DHX38	HP:0000842	Hyperinsulinemia
9785	DHX38	HP:0000987	Atypical scarring of skin
9785	DHX38	HP:0008046	Abnormal retinal vascular morphology
9785	DHX38	HP:0007703	Abnormality of retinal pigmentation
9785	DHX38	HP:0007737	Bone spicule pigmentation of the retina
9785	DHX38	HP:0001513	Obesity
9785	DHX38	HP:0007843	Attenuation of retinal blood vessels
9785	DHX38	HP:0000407	Sensorineural hearing impairment
9785	DHX38	HP:0000405	Conductive hearing impairment
9785	DHX38	HP:0000463	Anteverted nares
9785	DHX38	HP:0000431	Wide nasal bridge
9785	DHX38	HP:0000518	Cataract
9785	DHX38	HP:0000510	Rod-cone dystrophy
9785	DHX38	HP:0000512	Abnormal electroretinogram
9785	DHX38	HP:0000505	Visual impairment
9785	DHX38	HP:0000501	Glaucoma
9785	DHX38	HP:0000563	Keratoconus
9786	KIAA0586	HP:0001156	Brachydactyly
9786	KIAA0586	HP:0001161	Hand polydactyly
9786	KIAA0586	HP:0100954	Open operculum
9786	KIAA0586	HP:0002435	Meningocele
9786	KIAA0586	HP:0009921	Duane anomaly
9786	KIAA0586	HP:0002419	Molar tooth sign on MRI
9786	KIAA0586	HP:0001290	Generalized hypotonia
9786	KIAA0586	HP:0001273	Abnormal corpus callosum morphology
9786	KIAA0586	HP:0001288	Gait disturbance
9786	KIAA0586	HP:0001250	Seizure
9786	KIAA0586	HP:0001252	Hypotonia
9786	KIAA0586	HP:0001251	Ataxia
9786	KIAA0586	HP:0001249	Intellectual disability
9786	KIAA0586	HP:0001265	Hyporeflexia
9786	KIAA0586	HP:0001263	Global developmental delay
9786	KIAA0586	HP:0002558	Supernumerary nipple
9786	KIAA0586	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9786	KIAA0586	HP:0002553	Highly arched eyebrow
9786	KIAA0586	HP:0002516	Increased intracranial pressure
9786	KIAA0586	HP:0000083	Renal insufficiency
9786	KIAA0586	HP:0000054	Micropenis
9786	KIAA0586	HP:0000047	Hypospadias
9786	KIAA0586	HP:0008872	Feeding difficulties in infancy
9786	KIAA0586	HP:0008797	Early ossification of capital femoral epiphyses
9786	KIAA0586	HP:0001331	Absent septum pellucidum
9786	KIAA0586	HP:0001344	Absent speech
9786	KIAA0586	HP:0000007	Autosomal recessive inheritance
9786	KIAA0586	HP:0001337	Tremor
9786	KIAA0586	HP:0001305	Dandy-Walker malformation
9786	KIAA0586	HP:0001320	Cerebellar vermis hypoplasia
9786	KIAA0586	HP:0002650	Scoliosis
9786	KIAA0586	HP:0001321	Cerebellar hypoplasia
9786	KIAA0586	HP:0001317	Abnormal cerebellum morphology
9786	KIAA0586	HP:0000175	Cleft palate
9786	KIAA0586	HP:0012106	Rhizomelic leg shortening
9786	KIAA0586	HP:0002793	Abnormal pattern of respiration
9786	KIAA0586	HP:0002789	Tachypnea
9786	KIAA0586	HP:0000110	Renal dysplasia
9786	KIAA0586	HP:0002020	Gastroesophageal reflux
9786	KIAA0586	HP:0005989	Redundant neck skin
9786	KIAA0586	HP:0002007	Frontal bossing
9786	KIAA0586	HP:0003312	Abnormal form of the vertebral bodies
9786	KIAA0586	HP:0004629	Small cervical vertebral bodies
9786	KIAA0586	HP:0002089	Pulmonary hypoplasia
9786	KIAA0586	HP:0002085	Occipital encephalocele
9786	KIAA0586	HP:0002084	Encephalocele
9786	KIAA0586	HP:0010442	Polydactyly
9786	KIAA0586	HP:0002119	Ventriculomegaly
9786	KIAA0586	HP:0002134	Abnormal basal ganglia morphology
9786	KIAA0586	HP:0002126	Polymicrogyria
9786	KIAA0586	HP:0002100	Recurrent aspiration pneumonia
9786	KIAA0586	HP:0002104	Apnea
9786	KIAA0586	HP:0003411	Proximal femoral metaphyseal irregularity
9786	KIAA0586	HP:0011933	Elongated superior cerebellar peduncle
9786	KIAA0586	HP:0011927	Short digit
9786	KIAA0586	HP:0002195	Dysgenesis of the cerebellar vermis
9786	KIAA0586	HP:0004719	Hyperechogenic kidneys
9786	KIAA0586	HP:0010579	Cone-shaped epiphysis
9786	KIAA0586	HP:0002269	Abnormality of neuronal migration
9786	KIAA0586	HP:0002251	Aganglionic megacolon
9786	KIAA0586	HP:0002205	Recurrent respiratory infections
9786	KIAA0586	HP:0002280	Enlarged cisterna magna
9786	KIAA0586	HP:0007033	Cerebellar dysplasia
9786	KIAA0586	HP:0011968	Feeding difficulties
9786	KIAA0586	HP:0007082	Dilated third ventricle
9786	KIAA0586	HP:0002323	Anencephaly
9786	KIAA0586	HP:0004991	Rhizomelic arm shortening
9786	KIAA0586	HP:0008445	Cervical spinal canal stenosis
9786	KIAA0586	HP:0000639	Nystagmus
9786	KIAA0586	HP:0000612	Iris coloboma
9786	KIAA0586	HP:0010013	Abnormal 5th metacarpal morphology
9786	KIAA0586	HP:0000657	Oculomotor apraxia
9786	KIAA0586	HP:0006989	Dysplastic corpus callosum
9786	KIAA0586	HP:0004322	Short stature
9786	KIAA0586	HP:0006956	Lateral ventricle dilatation
9786	KIAA0586	HP:0030680	Abnormality of cardiovascular system morphology
9786	KIAA0586	HP:0000803	Renal cortical cysts
9786	KIAA0586	HP:0012795	Abnormal optic disc morphology
9786	KIAA0586	HP:0000774	Narrow chest
9786	KIAA0586	HP:0000773	Short ribs
9786	KIAA0586	HP:0000776	Congenital diaphragmatic hernia
9786	KIAA0586	HP:0004422	Biparietal narrowing
9786	KIAA0586	HP:0003170	Abnormal acetabulum morphology
9786	KIAA0586	HP:0000890	Long clavicles
9786	KIAA0586	HP:0000864	Abnormality of the hypothalamus-pituitary axis
9786	KIAA0586	HP:0100259	Postaxial polydactyly
9786	KIAA0586	HP:0100258	Preaxial polydactyly
9786	KIAA0586	HP:0000286	Epicanthus
9786	KIAA0586	HP:0001591	Bell-shaped thorax
9786	KIAA0586	HP:0000276	Long face
9786	KIAA0586	HP:0000238	Hydrocephalus
9786	KIAA0586	HP:0002876	Episodic tachypnea
9786	KIAA0586	HP:0001561	Polyhydramnios
9786	KIAA0586	HP:0000202	Orofacial cleft
9786	KIAA0586	HP:0001508	Failure to thrive
9786	KIAA0586	HP:0030048	Colpocephaly
9786	KIAA0586	HP:0031528	Subretinal deposits
9786	KIAA0586	HP:0000377	Abnormal pinna morphology
9786	KIAA0586	HP:0000396	Overfolded helix
9786	KIAA0586	HP:0005257	Thoracic hypoplasia
9786	KIAA0586	HP:0006528	Chronic lung disease
9786	KIAA0586	HP:0002910	Elevated hepatic transaminase
9786	KIAA0586	HP:0001696	Situs inversus totalis
9786	KIAA0586	HP:0000369	Low-set ears
9786	KIAA0586	HP:0000368	Low-set, posteriorly rotated ears
9786	KIAA0586	HP:0000347	Micrognathia
9786	KIAA0586	HP:0002983	Micromelia
9786	KIAA0586	HP:0000316	Hypertelorism
9786	KIAA0586	HP:0001631	Atrial septal defect
9786	KIAA0586	HP:0006610	Wide intermamillary distance
9786	KIAA0586	HP:0006660	Aplastic clavicle
9786	KIAA0586	HP:0006668	Twelfth rib hypoplasia
9786	KIAA0586	HP:0000407	Sensorineural hearing impairment
9786	KIAA0586	HP:0005280	Depressed nasal bridge
9786	KIAA0586	HP:0000486	Strabismus
9786	KIAA0586	HP:0000480	Retinal coloboma
9786	KIAA0586	HP:0000496	Abnormality of eye movement
9786	KIAA0586	HP:0000463	Anteverted nares
9786	KIAA0586	HP:0001789	Hydrops fetalis
9786	KIAA0586	HP:0000470	Short neck
9786	KIAA0586	HP:0000426	Prominent nasal bridge
9786	KIAA0586	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax
9786	KIAA0586	HP:0001829	Foot polydactyly
9786	KIAA0586	HP:0000508	Ptosis
9786	KIAA0586	HP:0000589	Coloboma
9786	KIAA0586	HP:0000556	Retinal dystrophy
9786	KIAA0586	HP:0000572	Visual loss
9786	KIAA0586	HP:0000545	Myopia
9790	BMS1	HP:0006101	Finger syndactyly
9790	BMS1	HP:0007383	Congenital localized absence of skin
9790	BMS1	HP:0001362	Calvarial skull defect
9790	BMS1	HP:0000006	Autosomal dominant inheritance
9790	BMS1	HP:0010628	Facial palsy
9790	BMS1	HP:0200042	Skin ulcer
9790	BMS1	HP:0003010	Prolonged bleeding time
9790	BMS1	HP:0004348	Abnormality of bone mineral density
9790	BMS1	HP:0004471	Aplasia cutis congenita over the scalp vertex
9790	BMS1	HP:0010301	Spinal dysraphism
9790	BMS1	HP:0001770	Toe syndactyly
9791	PTDSS1	HP:0001187	Hyperextensibility of the finger joints
9791	PTDSS1	HP:0001156	Brachydactyly
9791	PTDSS1	HP:0001167	Abnormal finger morphology
9791	PTDSS1	HP:0001159	Syndactyly
9791	PTDSS1	HP:0003745	Sporadic
9791	PTDSS1	HP:0001290	Generalized hypotonia
9791	PTDSS1	HP:0001274	Agenesis of corpus callosum
9791	PTDSS1	HP:0001252	Hypotonia
9791	PTDSS1	HP:0001249	Intellectual disability
9791	PTDSS1	HP:0001263	Global developmental delay
9791	PTDSS1	HP:0006101	Finger syndactyly
9791	PTDSS1	HP:0001376	Limitation of joint mobility
9791	PTDSS1	HP:0000041	Chordee
9791	PTDSS1	HP:0000036	Abnormal penis morphology
9791	PTDSS1	HP:0000039	Epispadias
9791	PTDSS1	HP:0001388	Joint laxity
9791	PTDSS1	HP:0000047	Hypospadias
9791	PTDSS1	HP:0000023	Inguinal hernia
9791	PTDSS1	HP:0002684	Thickened calvaria
9791	PTDSS1	HP:0000028	Cryptorchidism
9791	PTDSS1	HP:0007495	Prematurely aged appearance
9791	PTDSS1	HP:0006152	Proximal symphalangism of hands
9791	PTDSS1	HP:0001331	Absent septum pellucidum
9791	PTDSS1	HP:0001328	Specific learning disability
9791	PTDSS1	HP:0000006	Autosomal dominant inheritance
9791	PTDSS1	HP:0002650	Scoliosis
9791	PTDSS1	HP:0000193	Bifid uvula
9791	PTDSS1	HP:0000164	Abnormality of the dentition
9791	PTDSS1	HP:0000176	Submucous cleft hard palate
9791	PTDSS1	HP:0000175	Cleft palate
9791	PTDSS1	HP:0000171	Microglossia
9791	PTDSS1	HP:0000135	Hypogonadism
9791	PTDSS1	HP:0000154	Wide mouth
9791	PTDSS1	HP:0007678	Lacrimal duct stenosis
9791	PTDSS1	HP:0005019	Diaphyseal thickening
9791	PTDSS1	HP:0002705	High, narrow palate
9791	PTDSS1	HP:0006297	Enamel hypoplasia
9791	PTDSS1	HP:0002750	Delayed skeletal maturation
9791	PTDSS1	HP:0002007	Frontal bossing
9791	PTDSS1	HP:0100541	Femoral hernia
9791	PTDSS1	HP:0005916	Abnormal metacarpal morphology
9791	PTDSS1	HP:0002120	Cerebral cortical atrophy
9791	PTDSS1	HP:0002119	Ventriculomegaly
9791	PTDSS1	HP:0010554	Cutaneous finger syndactyly
9791	PTDSS1	HP:0010628	Facial palsy
9791	PTDSS1	HP:0010627	Anterior pituitary hypoplasia
9791	PTDSS1	HP:0003510	Severe short stature
9791	PTDSS1	HP:0001043	Prominent scalp veins
9791	PTDSS1	HP:0002342	Intellectual disability, moderate
9791	PTDSS1	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
9791	PTDSS1	HP:0009773	Symphalangism affecting the phalanges of the hand
9791	PTDSS1	HP:0004279	Short palm
9791	PTDSS1	HP:0000614	Abnormal nasolacrimal system morphology
9791	PTDSS1	HP:0000682	Abnormal dental enamel morphology
9791	PTDSS1	HP:0006989	Dysplastic corpus callosum
9791	PTDSS1	HP:0004322	Short stature
9791	PTDSS1	HP:0003070	Elbow ankylosis
9791	PTDSS1	HP:0005692	Joint hyperflexibility
9791	PTDSS1	HP:0003041	Humeroradial synostosis
9791	PTDSS1	HP:0003015	Flared metaphysis
9791	PTDSS1	HP:0004437	Cranial hyperostosis
9791	PTDSS1	HP:0003103	Abnormal cortical bone morphology
9791	PTDSS1	HP:0000916	Broad clavicles
9791	PTDSS1	HP:0004482	Relative macrocephaly
9791	PTDSS1	HP:0000885	Broad ribs
9791	PTDSS1	HP:0003241	External genital hypoplasia
9791	PTDSS1	HP:0003298	Spina bifida occulta
9791	PTDSS1	HP:0000973	Cutis laxa
9791	PTDSS1	HP:0000965	Cutis marmorata
9791	PTDSS1	HP:0000963	Thin skin
9791	PTDSS1	HP:0000944	Abnormal metaphysis morphology
9791	PTDSS1	HP:0008070	Sparse hair
9791	PTDSS1	HP:0008065	Aplasia/Hypoplasia of the skin
9791	PTDSS1	HP:0000256	Macrocephaly
9791	PTDSS1	HP:0000270	Delayed cranial suture closure
9791	PTDSS1	HP:0002808	Kyphosis
9791	PTDSS1	HP:0006380	Knee flexion contracture
9791	PTDSS1	HP:0000239	Large fontanelles
9791	PTDSS1	HP:0000238	Hydrocephalus
9791	PTDSS1	HP:0000252	Microcephaly
9791	PTDSS1	HP:0001582	Redundant skin
9791	PTDSS1	HP:0001545	Anteriorly placed anus
9791	PTDSS1	HP:0001508	Failure to thrive
9791	PTDSS1	HP:0001511	Intrauterine growth retardation
9791	PTDSS1	HP:0002937	Hemivertebrae
9791	PTDSS1	HP:0011002	Osteopetrosis
9791	PTDSS1	HP:0011001	Increased bone mineral density
9791	PTDSS1	HP:0000337	Broad forehead
9791	PTDSS1	HP:0000347	Micrognathia
9791	PTDSS1	HP:0000316	Hypertelorism
9791	PTDSS1	HP:0002987	Elbow flexion contracture
9791	PTDSS1	HP:0000303	Mandibular prognathia
9791	PTDSS1	HP:0006660	Aplastic clavicle
9791	PTDSS1	HP:0000407	Sensorineural hearing impairment
9791	PTDSS1	HP:0000400	Macrotia
9791	PTDSS1	HP:0012471	Thick vermilion border
9791	PTDSS1	HP:0000453	Choanal atresia
9791	PTDSS1	HP:0000452	Choanal stenosis
9791	PTDSS1	HP:0005477	Progressive sclerosis of skull base
9791	PTDSS1	HP:0005465	Facial hyperostosis
9791	PTDSS1	HP:0001804	Hypoplastic fingernail
9791	PTDSS1	HP:0001812	Hyperconvex fingernails
9791	PTDSS1	HP:0011220	Prominent forehead
9817	KEAP1	HP:0002671	Basal cell carcinoma
9817	KEAP1	HP:0005987	Multinodular goiter
9817	KEAP1	HP:0100528	Pleuropulmonary blastoma
9817	KEAP1	HP:0200063	Colorectal polyposis
9817	KEAP1	HP:0100615	Ovarian neoplasm
9817	KEAP1	HP:0100619	Sertoli cell neoplasm
9817	KEAP1	HP:0100617	Testicular seminoma
9817	KEAP1	HP:0007129	Cerebellar medulloblastoma
9817	KEAP1	HP:0005584	Renal cell carcinoma
9817	KEAP1	HP:0000836	Hyperthyroidism
9817	KEAP1	HP:0030071	Medulloepithelioma
9817	KEAP1	HP:0002890	Thyroid carcinoma
9817	KEAP1	HP:0030434	Pilomatrixoma
9817	KEAP1	HP:0006779	Alveolar rhabdomyosarcoma
9820	CUL7	HP:0001249	Intellectual disability
9820	CUL7	HP:0008734	Decreased testicular size
9820	CUL7	HP:0001374	Congenital hip dislocation
9820	CUL7	HP:0001373	Joint dislocation
9820	CUL7	HP:0001382	Joint hypermobility
9820	CUL7	HP:0000047	Hypospadias
9820	CUL7	HP:0008897	Postnatal growth retardation
9820	CUL7	HP:0008839	Hypoplastic pelvis
9820	CUL7	HP:0000007	Autosomal recessive inheritance
9820	CUL7	HP:0002650	Scoliosis
9820	CUL7	HP:0002643	Neonatal respiratory distress
9820	CUL7	HP:0000179	Thick lower lip vermilion
9820	CUL7	HP:0000144	Decreased fertility
9820	CUL7	HP:0002750	Delayed skeletal maturation
9820	CUL7	HP:0002007	Frontal bossing
9820	CUL7	HP:0003307	Hyperlordosis
9820	CUL7	HP:0011800	Midface retrusion
9820	CUL7	HP:0003691	Scapular winging
9820	CUL7	HP:0100659	Abnormal cerebral vascular morphology
9820	CUL7	HP:0009811	Abnormality of the elbow
9820	CUL7	HP:0100625	Enlarged thorax
9820	CUL7	HP:0004209	Clinodactyly of the 5th finger
9820	CUL7	HP:0000682	Abnormal dental enamel morphology
9820	CUL7	HP:0000684	Delayed eruption of teeth
9820	CUL7	HP:0004322	Short stature
9820	CUL7	HP:0005692	Joint hyperflexibility
9820	CUL7	HP:0003022	Hypoplasia of the ulna
9820	CUL7	HP:0000767	Pectus excavatum
9820	CUL7	HP:0000773	Short ribs
9820	CUL7	HP:0003100	Slender long bone
9820	CUL7	HP:0003175	Hypoplastic ischia
9820	CUL7	HP:0003173	Hypoplastic pubic bone
9820	CUL7	HP:0000888	Horizontal ribs
9820	CUL7	HP:0000883	Thin ribs
9820	CUL7	HP:0009237	Short 5th finger
9820	CUL7	HP:0004570	Increased vertebral height
9820	CUL7	HP:0003298	Spina bifida occulta
9820	CUL7	HP:0010306	Short thorax
9820	CUL7	HP:0000944	Abnormal metaphysis morphology
9820	CUL7	HP:0000272	Malar flattening
9820	CUL7	HP:0000268	Dolichocephaly
9820	CUL7	HP:0002827	Hip dislocation
9820	CUL7	HP:0002808	Kyphosis
9820	CUL7	HP:0000232	Everted lower lip vermilion
9820	CUL7	HP:0001518	Small for gestational age
9820	CUL7	HP:0001511	Intrauterine growth retardation
9820	CUL7	HP:0001510	Growth delay
9820	CUL7	HP:0000343	Long philtrum
9820	CUL7	HP:0000337	Broad forehead
9820	CUL7	HP:0002983	Micromelia
9820	CUL7	HP:0000325	Triangular face
9820	CUL7	HP:0000307	Pointed chin
9820	CUL7	HP:0000303	Mandibular prognathia
9820	CUL7	HP:0005280	Depressed nasal bridge
9820	CUL7	HP:0000463	Anteverted nares
9820	CUL7	HP:0000470	Short neck
9820	CUL7	HP:0001763	Pes planus
9820	CUL7	HP:0000414	Bulbous nose
9820	CUL7	HP:0000411	Protruding ear
9820	CUL7	HP:0001838	Rocker bottom foot
9820	CUL7	HP:0000574	Thick eyebrow
9821	RB1CC1	HP:0000006	Autosomal dominant inheritance
9821	RB1CC1	HP:0001428	Somatic mutation
9821	RB1CC1	HP:0003002	Breast carcinoma
9829	DNAJC6	HP:0007311	Short stepped shuffling gait
9829	DNAJC6	HP:0007256	Abnormal pyramidal sign
9829	DNAJC6	HP:0002425	Anarthria
9829	DNAJC6	HP:0025269	Panic attack
9829	DNAJC6	HP:0001250	Seizure
9829	DNAJC6	HP:0001249	Intellectual disability
9829	DNAJC6	HP:0002578	Gastroparesis
9829	DNAJC6	HP:0001265	Hyporeflexia
9829	DNAJC6	HP:0001260	Dysarthria
9829	DNAJC6	HP:0001257	Spasticity
9829	DNAJC6	HP:0002540	Inability to walk
9829	DNAJC6	HP:0002509	Limb hypertonia
9829	DNAJC6	HP:0002505	Loss of ambulation
9829	DNAJC6	HP:0025387	Pill-rolling tremor
9829	DNAJC6	HP:0001347	Hyperreflexia
9829	DNAJC6	HP:0001332	Dystonia
9829	DNAJC6	HP:0000007	Autosomal recessive inheritance
9829	DNAJC6	HP:0001337	Tremor
9829	DNAJC6	HP:0001336	Myoclonus
9829	DNAJC6	HP:0002650	Scoliosis
9829	DNAJC6	HP:0001300	Parkinsonism
9829	DNAJC6	HP:0008969	Leg muscle stiffness
9829	DNAJC6	HP:0002018	Nausea
9829	DNAJC6	HP:0002019	Constipation
9829	DNAJC6	HP:0040307	Male sexual dysfunction
9829	DNAJC6	HP:0002014	Diarrhea
9829	DNAJC6	HP:0030904	Glabellar reflex
9829	DNAJC6	HP:0100543	Cognitive impairment
9829	DNAJC6	HP:0002067	Bradykinesia
9829	DNAJC6	HP:0002066	Gait ataxia
9829	DNAJC6	HP:0003394	Muscle spasm
9829	DNAJC6	HP:0002063	Rigidity
9829	DNAJC6	HP:0002141	Gait imbalance
9829	DNAJC6	HP:0002172	Postural instability
9829	DNAJC6	HP:0100710	Impulsivity
9829	DNAJC6	HP:0100785	Insomnia
9829	DNAJC6	HP:0002362	Shuffling gait
9829	DNAJC6	HP:0003677	Slowly progressive
9829	DNAJC6	HP:0003678	Rapidly progressive
9829	DNAJC6	HP:0002322	Resting tremor
9829	DNAJC6	HP:0100660	Dyskinesia
9829	DNAJC6	HP:0007164	Slowed slurred speech
9829	DNAJC6	HP:0002304	Akinesia
9829	DNAJC6	HP:0003621	Juvenile onset
9829	DNAJC6	HP:0000651	Diplopia
9829	DNAJC6	HP:0012638	Abnormal nervous system physiology
9829	DNAJC6	HP:0004305	Involuntary movements
9829	DNAJC6	HP:0100022	Abnormality of movement
9829	DNAJC6	HP:0000738	Hallucinations
9829	DNAJC6	HP:0000739	Anxiety
9829	DNAJC6	HP:0000736	Short attention span
9829	DNAJC6	HP:0000735	Impaired social interactions
9829	DNAJC6	HP:0000741	Apathy
9829	DNAJC6	HP:0000716	Depression
9829	DNAJC6	HP:0000713	Agitation
9829	DNAJC6	HP:0000727	Frontal lobe dementia
9829	DNAJC6	HP:0000726	Dementia
9829	DNAJC6	HP:0004409	Hyposmia
9829	DNAJC6	HP:0030014	Female sexual dysfunction
9829	DNAJC6	HP:0012378	Fatigue
9829	DNAJC6	HP:0012332	Abnormal autonomic nervous system physiology
9829	DNAJC6	HP:0000338	Hypomimic face
9829	DNAJC6	HP:0001621	Weak voice
9829	DNAJC6	HP:0012444	Brain atrophy
9829	DNAJC6	HP:0012452	Restless legs
9829	DNAJC6	HP:0001761	Pes cavus
9829	DNAJC6	HP:0000571	Hypometric saccades
9829	DNAJC6	HP:0000551	Color vision defect
9837	GINS1	HP:0008897	Postnatal growth retardation
9837	GINS1	HP:0000007	Autosomal recessive inheritance
9837	GINS1	HP:0002719	Recurrent infections
9837	GINS1	HP:0002716	Lymphadenopathy
9837	GINS1	HP:0002014	Diarrhea
9837	GINS1	HP:0001999	Abnormal facial shape
9837	GINS1	HP:0004322	Short stature
9837	GINS1	HP:0034197	Third trimester onset
9837	GINS1	HP:0040219	Absent natural killer cells
9837	GINS1	HP:0000958	Dry skin
9837	GINS1	HP:0000964	Eczema
9837	GINS1	HP:0008064	Ichthyosis
9837	GINS1	HP:0000252	Microcephaly
9837	GINS1	HP:0001581	Recurrent skin infections
9837	GINS1	HP:0002863	Myelodysplasia
9837	GINS1	HP:0001511	Intrauterine growth retardation
9837	GINS1	HP:0001888	Lymphopenia
9837	GINS1	HP:0001875	Neutropenia
9839	ZEB2	HP:0001181	Adducted thumb
9839	ZEB2	HP:0001153	Septate vagina
9839	ZEB2	HP:0001166	Arachnodactyly
9839	ZEB2	HP:0001159	Syndactyly
9839	ZEB2	HP:0025100	Abnormal hippocampus morphology
9839	ZEB2	HP:0002465	Poor speech
9839	ZEB2	HP:0002474	Expressive language delay
9839	ZEB2	HP:0007328	Impaired pain sensation
9839	ZEB2	HP:0009918	Ectopia pupillae
9839	ZEB2	HP:0009909	Uplifted earlobe
9839	ZEB2	HP:0007270	Atypical absence seizure
9839	ZEB2	HP:0010864	Intellectual disability, severe
9839	ZEB2	HP:0003763	Bruxism
9839	ZEB2	HP:0003720	Generalized muscle hypertrophy
9839	ZEB2	HP:0001290	Generalized hypotonia
9839	ZEB2	HP:0001274	Agenesis of corpus callosum
9839	ZEB2	HP:0001273	Abnormal corpus callosum morphology
9839	ZEB2	HP:0001270	Motor delay
9839	ZEB2	HP:0001250	Seizure
9839	ZEB2	HP:0001252	Hypotonia
9839	ZEB2	HP:0001249	Intellectual disability
9839	ZEB2	HP:0001257	Spasticity
9839	ZEB2	HP:0002558	Supernumerary nipple
9839	ZEB2	HP:0002572	Episodic vomiting
9839	ZEB2	HP:0007359	Focal-onset seizure
9839	ZEB2	HP:0002540	Inability to walk
9839	ZEB2	HP:0002553	Highly arched eyebrow
9839	ZEB2	HP:0000077	Abnormality of the kidney
9839	ZEB2	HP:0000076	Vesicoureteral reflux
9839	ZEB2	HP:0000078	Abnormality of the genital system
9839	ZEB2	HP:0000075	Renal duplication
9839	ZEB2	HP:0001371	Flexion contracture
9839	ZEB2	HP:0000041	Chordee
9839	ZEB2	HP:0000054	Micropenis
9839	ZEB2	HP:0000048	Bifid scrotum
9839	ZEB2	HP:0000047	Hypospadias
9839	ZEB2	HP:0000020	Urinary incontinence
9839	ZEB2	HP:0001347	Hyperreflexia
9839	ZEB2	HP:0000034	Hydrocele testis
9839	ZEB2	HP:0000028	Cryptorchidism
9839	ZEB2	HP:0012081	Enlarged cerebellum
9839	ZEB2	HP:0410005	Cleft hard palate
9839	ZEB2	HP:0001344	Absent speech
9839	ZEB2	HP:0000003	Multicystic kidney dysplasia
9839	ZEB2	HP:0000006	Autosomal dominant inheritance
9839	ZEB2	HP:0001320	Cerebellar vermis hypoplasia
9839	ZEB2	HP:0002650	Scoliosis
9839	ZEB2	HP:0001321	Cerebellar hypoplasia
9839	ZEB2	HP:0002607	Bowel incontinence
9839	ZEB2	HP:0000179	Thick lower lip vermilion
9839	ZEB2	HP:0000194	Open mouth
9839	ZEB2	HP:0000193	Bifid uvula
9839	ZEB2	HP:0001492	Axenfeld anomaly
9839	ZEB2	HP:0000176	Submucous cleft hard palate
9839	ZEB2	HP:0000175	Cleft palate
9839	ZEB2	HP:0410031	Submucous cleft of soft and hard palate
9839	ZEB2	HP:0008947	Infantile muscular hypotonia
9839	ZEB2	HP:0000119	Abnormality of the genitourinary system
9839	ZEB2	HP:0002777	Tracheal stenosis
9839	ZEB2	HP:0000125	Pelvic kidney
9839	ZEB2	HP:0000126	Hydronephrosis
9839	ZEB2	HP:0002750	Delayed skeletal maturation
9839	ZEB2	HP:0002719	Recurrent infections
9839	ZEB2	HP:0002021	Pyloric stenosis
9839	ZEB2	HP:0002019	Constipation
9839	ZEB2	HP:0002015	Dysphagia
9839	ZEB2	HP:0002013	Vomiting
9839	ZEB2	HP:0002007	Frontal bossing
9839	ZEB2	HP:0040331	Focal hypointensity of cerebral white matter on MRI
9839	ZEB2	HP:0002079	Hypoplasia of the corpus callosum
9839	ZEB2	HP:0009487	Ulnar deviation of the hand
9839	ZEB2	HP:0002119	Ventriculomegaly
9839	ZEB2	HP:0002136	Broad-based gait
9839	ZEB2	HP:0002126	Polymicrogyria
9839	ZEB2	HP:0011886	Hyphema
9839	ZEB2	HP:0010511	Long toe
9839	ZEB2	HP:0002251	Aganglionic megacolon
9839	ZEB2	HP:0009748	Large earlobe
9839	ZEB2	HP:0007048	Large basal ganglia
9839	ZEB2	HP:0007010	Poor fine motor coordination
9839	ZEB2	HP:0007099	Chiari type I malformation
9839	ZEB2	HP:0002360	Sleep disturbance
9839	ZEB2	HP:0002335	Agenesis of cerebellar vermis
9839	ZEB2	HP:0002353	EEG abnormality
9839	ZEB2	HP:0001089	Iris atrophy
9839	ZEB2	HP:0007165	Periventricular heterotopia
9839	ZEB2	HP:0009765	Low hanging columella
9839	ZEB2	HP:0004961	Pulmonary artery sling
9839	ZEB2	HP:0002307	Drooling
9839	ZEB2	HP:0005580	Duplication of renal pelvis
9839	ZEB2	HP:0000648	Optic atrophy
9839	ZEB2	HP:0000612	Iris coloboma
9839	ZEB2	HP:0000615	Abnormal pupil morphology
9839	ZEB2	HP:0010055	Broad hallux
9839	ZEB2	HP:0000684	Delayed eruption of teeth
9839	ZEB2	HP:0000678	Dental crowding
9839	ZEB2	HP:0000692	Tooth malposition
9839	ZEB2	HP:0000687	Widely spaced teeth
9839	ZEB2	HP:0011317	Right unicoronal synostosis
9839	ZEB2	HP:0001999	Abnormal facial shape
9839	ZEB2	HP:0004322	Short stature
9839	ZEB2	HP:0006956	Lateral ventricle dilatation
9839	ZEB2	HP:0004313	Decreased circulating antibody level
9839	ZEB2	HP:0004362	Abnormality of enteric ganglion morphology
9839	ZEB2	HP:0031936	Delayed ability to walk
9839	ZEB2	HP:0000767	Pectus excavatum
9839	ZEB2	HP:0000768	Pectus carinatum
9839	ZEB2	HP:0000733	Abnormal repetitive mannerisms
9839	ZEB2	HP:0000750	Delayed speech and language development
9839	ZEB2	HP:0000707	Abnormality of the nervous system
9839	ZEB2	HP:0011451	Primary microcephaly
9839	ZEB2	HP:0004415	Pulmonary artery stenosis
9839	ZEB2	HP:0004414	Abnormality of the pulmonary artery
9839	ZEB2	HP:0030791	Abnormal jaw morphology
9839	ZEB2	HP:0040082	Happy demeanor
9839	ZEB2	HP:0003270	Abdominal distention
9839	ZEB2	HP:0000932	Abnormal posterior cranial fossa morphology
9839	ZEB2	HP:0000286	Epicanthus
9839	ZEB2	HP:0000252	Microcephaly
9839	ZEB2	HP:0000212	Gingival overgrowth
9839	ZEB2	HP:0002857	Genu valgum
9839	ZEB2	HP:0001508	Failure to thrive
9839	ZEB2	HP:0012385	Camptodactyly
9839	ZEB2	HP:0012372	Abnormal eye morphology
9839	ZEB2	HP:0000378	Cupped ear
9839	ZEB2	HP:0006482	Abnormality of dental morphology
9839	ZEB2	HP:0000358	Posteriorly rotated ears
9839	ZEB2	HP:0001680	Coarctation of aorta
9839	ZEB2	HP:0001650	Aortic valve stenosis
9839	ZEB2	HP:0001647	Bicuspid aortic valve
9839	ZEB2	HP:0000316	Hypertelorism
9839	ZEB2	HP:0001643	Patent ductus arteriosus
9839	ZEB2	HP:0001642	Pulmonic stenosis
9839	ZEB2	HP:0000322	Short philtrum
9839	ZEB2	HP:0001629	Ventricular septal defect
9839	ZEB2	HP:0001627	Abnormal heart morphology
9839	ZEB2	HP:0001641	Abnormal pulmonary valve morphology
9839	ZEB2	HP:0001636	Tetralogy of Fallot
9839	ZEB2	HP:0000307	Pointed chin
9839	ZEB2	HP:0001631	Atrial septal defect
9839	ZEB2	HP:0000303	Mandibular prognathia
9839	ZEB2	HP:0030303	Hypoplastic anterior commissure
9839	ZEB2	HP:0000407	Sensorineural hearing impairment
9839	ZEB2	HP:0000403	Recurrent otitis media
9839	ZEB2	HP:0005274	Prominent nasal tip
9839	ZEB2	HP:0000483	Astigmatism
9839	ZEB2	HP:0000486	Strabismus
9839	ZEB2	HP:0000480	Retinal coloboma
9839	ZEB2	HP:0000482	Microcornea
9839	ZEB2	HP:0000478	Abnormality of the eye
9839	ZEB2	HP:0000494	Downslanted palpebral fissures
9839	ZEB2	HP:0000490	Deeply set eye
9839	ZEB2	HP:0011120	Concave nasal ridge
9839	ZEB2	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
9839	ZEB2	HP:0012430	Cerebral white matter hypoplasia
9839	ZEB2	HP:0000437	Depressed nasal tip
9839	ZEB2	HP:0001763	Pes planus
9839	ZEB2	HP:0030264	Webbed penis
9839	ZEB2	HP:0000444	Convex nasal ridge
9839	ZEB2	HP:0001746	Asplenia
9839	ZEB2	HP:0000431	Wide nasal bridge
9839	ZEB2	HP:0005484	Secondary microcephaly
9839	ZEB2	HP:0000518	Cataract
9839	ZEB2	HP:0001848	Calcaneovalgus deformity
9839	ZEB2	HP:0001847	Long hallux
9839	ZEB2	HP:0001822	Hallux valgus
9839	ZEB2	HP:0000506	Telecanthus
9839	ZEB2	HP:0000508	Ptosis
9839	ZEB2	HP:0000505	Visual impairment
9839	ZEB2	HP:0011229	Broad eyebrow
9839	ZEB2	HP:0000568	Microphthalmia
9839	ZEB2	HP:0000565	Esotropia
9839	ZEB2	HP:0000567	Chorioretinal coloboma
9839	ZEB2	HP:0000539	Abnormality of refraction
9839	ZEB2	HP:0000545	Myopia
9841	ZBTB24	HP:0001270	Motor delay
9841	ZBTB24	HP:0001249	Intellectual disability
9841	ZBTB24	HP:0001263	Global developmental delay
9841	ZBTB24	HP:0010976	B lymphocytopenia
9841	ZBTB24	HP:0000007	Autosomal recessive inheritance
9841	ZBTB24	HP:0001334	Communicating hydrocephalus
9841	ZBTB24	HP:0000158	Macroglossia
9841	ZBTB24	HP:0002788	Recurrent upper respiratory tract infections
9841	ZBTB24	HP:0002719	Recurrent infections
9841	ZBTB24	HP:0002720	Decreased circulating IgA level
9841	ZBTB24	HP:0002721	Immunodeficiency
9841	ZBTB24	HP:0002024	Malabsorption
9841	ZBTB24	HP:0002014	Diarrhea
9841	ZBTB24	HP:0002090	Pneumonia
9841	ZBTB24	HP:0003577	Congenital onset
9841	ZBTB24	HP:0002205	Recurrent respiratory infections
9841	ZBTB24	HP:0010808	Protruding tongue
9841	ZBTB24	HP:0020102	Pneumocystis jirovecii pneumonia
9841	ZBTB24	HP:0001903	Anemia
9841	ZBTB24	HP:0004322	Short stature
9841	ZBTB24	HP:0004315	Decreased circulating IgG level
9841	ZBTB24	HP:0004313	Decreased circulating antibody level
9841	ZBTB24	HP:0003196	Short nose
9841	ZBTB24	HP:0004469	Chronic bronchitis
9841	ZBTB24	HP:0003220	Abnormality of chromosome stability
9841	ZBTB24	HP:0000286	Epicanthus
9841	ZBTB24	HP:0000278	Retrognathia
9841	ZBTB24	HP:0000256	Macrocephaly
9841	ZBTB24	HP:0000218	High palate
9841	ZBTB24	HP:0001537	Umbilical hernia
9841	ZBTB24	HP:0002850	Decreased circulating total IgM
9841	ZBTB24	HP:0001510	Growth delay
9841	ZBTB24	HP:0012368	Flat face
9841	ZBTB24	HP:0000369	Low-set ears
9841	ZBTB24	HP:0000347	Micrognathia
9841	ZBTB24	HP:0000316	Hypertelorism
9841	ZBTB24	HP:0000311	Round face
9841	ZBTB24	HP:0000331	Short chin
9841	ZBTB24	HP:0005374	Cellular immunodeficiency
9841	ZBTB24	HP:0005280	Depressed nasal bridge
9841	ZBTB24	HP:0000463	Anteverted nares
9841	ZBTB24	HP:0005401	Recurrent candida infections
9841	ZBTB24	HP:0001888	Lymphopenia
9841	ZBTB24	HP:0001874	Abnormality of neutrophils
9842	PLEKHM1	HP:0100959	Dense metaphyseal bands
9842	PLEKHM1	HP:0001293	Cranial nerve compression
9842	PLEKHM1	HP:0033701	Cortical sclerosis of the iliac wing
9842	PLEKHM1	HP:0031035	Chronic infection
9842	PLEKHM1	HP:0002684	Thickened calvaria
9842	PLEKHM1	HP:0002659	Increased susceptibility to fractures
9842	PLEKHM1	HP:0000007	Autosomal recessive inheritance
9842	PLEKHM1	HP:0000006	Autosomal dominant inheritance
9842	PLEKHM1	HP:0000164	Abnormality of the dentition
9842	PLEKHM1	HP:0025406	Asthenia
9842	PLEKHM1	HP:0002757	Recurrent fractures
9842	PLEKHM1	HP:0002754	Osteomyelitis
9842	PLEKHM1	HP:0001433	Hepatosplenomegaly
9842	PLEKHM1	HP:0004618	Sandwich appearance of vertebral bodies
9842	PLEKHM1	HP:0003418	Back pain
9842	PLEKHM1	HP:0002240	Hepatomegaly
9842	PLEKHM1	HP:0004975	Erlenmeyer flask deformity of the femurs
9842	PLEKHM1	HP:0001903	Anemia
9842	PLEKHM1	HP:0000689	Dental malocclusion
9842	PLEKHM1	HP:0005652	Cortical sclerosis
9842	PLEKHM1	HP:0004348	Abnormality of bone mineral density
9842	PLEKHM1	HP:0000768	Pectus carinatum
9842	PLEKHM1	HP:0000707	Abnormality of the nervous system
9842	PLEKHM1	HP:0011463	Childhood onset
9842	PLEKHM1	HP:0005746	Osteosclerosis of the base of the skull
9842	PLEKHM1	HP:0003155	Elevated circulating alkaline phosphatase concentration
9842	PLEKHM1	HP:0005789	Generalized osteosclerosis
9842	PLEKHM1	HP:0000843	Hyperparathyroidism
9842	PLEKHM1	HP:0000938	Osteopenia
9842	PLEKHM1	HP:0000230	Gingivitis
9842	PLEKHM1	HP:0012378	Fatigue
9842	PLEKHM1	HP:0002901	Hypocalcemia
9842	PLEKHM1	HP:0006480	Premature loss of teeth
9842	PLEKHM1	HP:0006482	Abnormality of dental morphology
9842	PLEKHM1	HP:0011002	Osteopetrosis
9842	PLEKHM1	HP:0007958	Optic atrophy from cranial nerve compression
9842	PLEKHM1	HP:0001744	Splenomegaly
9842	PLEKHM1	HP:0000505	Visual impairment
9842	PLEKHM1	HP:0001873	Thrombocytopenia
9851	KIAA0753	HP:0001156	Brachydactyly
9851	KIAA0753	HP:0001162	Postaxial hand polydactyly
9851	KIAA0753	HP:0001161	Hand polydactyly
9851	KIAA0753	HP:0001159	Syndactyly
9851	KIAA0753	HP:0002444	Hypothalamic hamartoma
9851	KIAA0753	HP:0002419	Molar tooth sign on MRI
9851	KIAA0753	HP:0001290	Generalized hypotonia
9851	KIAA0753	HP:0001274	Agenesis of corpus callosum
9851	KIAA0753	HP:0001288	Gait disturbance
9851	KIAA0753	HP:0001250	Seizure
9851	KIAA0753	HP:0001252	Hypotonia
9851	KIAA0753	HP:0001251	Ataxia
9851	KIAA0753	HP:0001249	Intellectual disability
9851	KIAA0753	HP:0001263	Global developmental delay
9851	KIAA0753	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9851	KIAA0753	HP:0008689	Bilateral cryptorchidism
9851	KIAA0753	HP:0008678	Renal hypoplasia/aplasia
9851	KIAA0753	HP:0003865	Bowed humerus
9851	KIAA0753	HP:0002553	Highly arched eyebrow
9851	KIAA0753	HP:0001371	Flexion contracture
9851	KIAA0753	HP:0000054	Micropenis
9851	KIAA0753	HP:0000047	Hypospadias
9851	KIAA0753	HP:0008873	Disproportionate short-limb short stature
9851	KIAA0753	HP:0008872	Feeding difficulties in infancy
9851	KIAA0753	HP:0006145	Central Y-shaped metacarpal
9851	KIAA0753	HP:0000007	Autosomal recessive inheritance
9851	KIAA0753	HP:0001337	Tremor
9851	KIAA0753	HP:0001320	Cerebellar vermis hypoplasia
9851	KIAA0753	HP:0002643	Neonatal respiratory distress
9851	KIAA0753	HP:0000180	Lobulated tongue
9851	KIAA0753	HP:0000199	Tongue nodules
9851	KIAA0753	HP:0000190	Abnormal oral frenulum morphology
9851	KIAA0753	HP:0000175	Cleft palate
9851	KIAA0753	HP:0000126	Hydronephrosis
9851	KIAA0753	HP:0000104	Renal agenesis
9851	KIAA0753	HP:0002714	Downturned corners of mouth
9851	KIAA0753	HP:0002007	Frontal bossing
9851	KIAA0753	HP:0011802	Hamartoma of tongue
9851	KIAA0753	HP:0002079	Hypoplasia of the corpus callosum
9851	KIAA0753	HP:0011755	Ectopic posterior pituitary
9851	KIAA0753	HP:0002119	Ventriculomegaly
9851	KIAA0753	HP:0002104	Apnea
9851	KIAA0753	HP:0002195	Dysgenesis of the cerebellar vermis
9851	KIAA0753	HP:0002194	Delayed gross motor development
9851	KIAA0753	HP:0002269	Abnormality of neuronal migration
9851	KIAA0753	HP:0003577	Congenital onset
9851	KIAA0753	HP:0007036	Hypoplasia of olfactory tract
9851	KIAA0753	HP:0011968	Feeding difficulties
9851	KIAA0753	HP:0007068	Inferior cerebellar vermis hypoplasia
9851	KIAA0753	HP:0033454	Tube feeding
9851	KIAA0753	HP:0009084	Midline notch of upper alveolar ridge
9851	KIAA0753	HP:0010066	Duplication of phalanx of hallux
9851	KIAA0753	HP:0034044	Trident pelvis
9851	KIAA0753	HP:0000639	Nystagmus
9851	KIAA0753	HP:0010055	Broad hallux
9851	KIAA0753	HP:0000691	Microdontia
9851	KIAA0753	HP:0000687	Widely spaced teeth
9851	KIAA0753	HP:0000657	Oculomotor apraxia
9851	KIAA0753	HP:0004322	Short stature
9851	KIAA0753	HP:0006956	Lateral ventricle dilatation
9851	KIAA0753	HP:0003026	Short long bone
9851	KIAA0753	HP:0000750	Delayed speech and language development
9851	KIAA0753	HP:0011461	Fetal onset
9851	KIAA0753	HP:0000774	Narrow chest
9851	KIAA0753	HP:0004422	Biparietal narrowing
9851	KIAA0753	HP:0005792	Short humerus
9851	KIAA0753	HP:0000824	Decreased response to growth hormone stimulation test
9851	KIAA0753	HP:0040019	Finger clinodactyly
9851	KIAA0753	HP:0000998	Hypertrichosis
9851	KIAA0753	HP:0100260	Mesoaxial polydactyly
9851	KIAA0753	HP:0100258	Preaxial polydactyly
9851	KIAA0753	HP:0000286	Epicanthus
9851	KIAA0753	HP:0000276	Long face
9851	KIAA0753	HP:0000218	High palate
9851	KIAA0753	HP:0002876	Episodic tachypnea
9851	KIAA0753	HP:0000200	Short lingual frenulum
9851	KIAA0753	HP:0001538	Protuberant abdomen
9851	KIAA0753	HP:0001508	Failure to thrive
9851	KIAA0753	HP:0001510	Growth delay
9851	KIAA0753	HP:0012368	Flat face
9851	KIAA0753	HP:0005257	Thoracic hypoplasia
9851	KIAA0753	HP:0000358	Posteriorly rotated ears
9851	KIAA0753	HP:0000369	Low-set ears
9851	KIAA0753	HP:0000368	Low-set, posteriorly rotated ears
9851	KIAA0753	HP:0000343	Long philtrum
9851	KIAA0753	HP:0000347	Micrognathia
9851	KIAA0753	HP:0000316	Hypertelorism
9851	KIAA0753	HP:0001627	Abnormal heart morphology
9851	KIAA0753	HP:0000405	Conductive hearing impairment
9851	KIAA0753	HP:0005280	Depressed nasal bridge
9851	KIAA0753	HP:0000486	Strabismus
9851	KIAA0753	HP:0000463	Anteverted nares
9851	KIAA0753	HP:0000455	Broad nasal tip
9851	KIAA0753	HP:0000431	Wide nasal bridge
9851	KIAA0753	HP:0000426	Prominent nasal bridge
9851	KIAA0753	HP:0012506	Small pituitary gland
9851	KIAA0753	HP:0001829	Foot polydactyly
9851	KIAA0753	HP:0030353	Decreased serum insulin-like growth factor 1
9851	KIAA0753	HP:0011220	Prominent forehead
9851	KIAA0753	HP:0000565	Esotropia
9851	KIAA0753	HP:0000540	Hypermetropia
9853	RUSC2	HP:0001182	Tapered finger
9853	RUSC2	HP:0003701	Proximal muscle weakness
9853	RUSC2	HP:0100807	Long fingers
9853	RUSC2	HP:0001270	Motor delay
9853	RUSC2	HP:0001252	Hypotonia
9853	RUSC2	HP:0001249	Intellectual disability
9853	RUSC2	HP:0001263	Global developmental delay
9853	RUSC2	HP:0001257	Spasticity
9853	RUSC2	HP:0100874	Thick hair
9853	RUSC2	HP:0001212	Prominent fingertip pads
9853	RUSC2	HP:0002553	Highly arched eyebrow
9853	RUSC2	HP:0002521	Hypsarrhythmia
9853	RUSC2	HP:0001388	Joint laxity
9853	RUSC2	HP:0001347	Hyperreflexia
9853	RUSC2	HP:0000007	Autosomal recessive inheritance
9853	RUSC2	HP:0001310	Dysmetria
9853	RUSC2	HP:0002650	Scoliosis
9853	RUSC2	HP:0008936	Axial hypotonia
9853	RUSC2	HP:0002079	Hypoplasia of the corpus callosum
9853	RUSC2	HP:0003487	Babinski sign
9853	RUSC2	HP:0002169	Clonus
9853	RUSC2	HP:0003593	Infantile onset
9853	RUSC2	HP:0003577	Congenital onset
9853	RUSC2	HP:0002353	EEG abnormality
9853	RUSC2	HP:0002317	Unsteady gait
9853	RUSC2	HP:0010819	Atonic seizure
9853	RUSC2	HP:0000698	Conical tooth
9853	RUSC2	HP:0000664	Synophrys
9853	RUSC2	HP:0031936	Delayed ability to walk
9853	RUSC2	HP:0000752	Hyperactivity
9853	RUSC2	HP:0000750	Delayed speech and language development
9853	RUSC2	HP:0000718	Aggressive behavior
9853	RUSC2	HP:0003199	Decreased muscle mass
9853	RUSC2	HP:0000276	Long face
9853	RUSC2	HP:0000268	Dolichocephaly
9853	RUSC2	HP:0000218	High palate
9853	RUSC2	HP:0000358	Posteriorly rotated ears
9853	RUSC2	HP:0000369	Low-set ears
9853	RUSC2	HP:0032792	Tonic seizure
9853	RUSC2	HP:0000316	Hypertelorism
9853	RUSC2	HP:0000303	Mandibular prognathia
9853	RUSC2	HP:0012469	Infantile spasms
9853	RUSC2	HP:0012444	Brain atrophy
9853	RUSC2	HP:0000448	Prominent nose
9853	RUSC2	HP:0000414	Bulbous nose
9853	RUSC2	HP:0001762	Talipes equinovarus
9853	RUSC2	HP:0001761	Pes cavus
9853	RUSC2	HP:0005484	Secondary microcephaly
9853	RUSC2	HP:0000527	Long eyelashes
9853	RUSC2	HP:0000574	Thick eyebrow
9860	LRIG2	HP:0000083	Renal insufficiency
9860	LRIG2	HP:0000076	Vesicoureteral reflux
9860	LRIG2	HP:0000021	Megacystis
9860	LRIG2	HP:0000020	Urinary incontinence
9860	LRIG2	HP:0000028	Cryptorchidism
9860	LRIG2	HP:0000010	Recurrent urinary tract infections
9860	LRIG2	HP:0000012	Urinary urgency
9860	LRIG2	HP:0000007	Autosomal recessive inheritance
9860	LRIG2	HP:0032465	Bladder trabeculation
9860	LRIG2	HP:0002607	Bowel incontinence
9860	LRIG2	HP:0000126	Hydronephrosis
9860	LRIG2	HP:0002019	Constipation
9860	LRIG2	HP:0003593	Infantile onset
9860	LRIG2	HP:0003621	Juvenile onset
9860	LRIG2	HP:0001959	Polydipsia
9860	LRIG2	HP:0000805	Enuresis
9860	LRIG2	HP:0011463	Childhood onset
9860	LRIG2	HP:0000796	Urethral obstruction
9860	LRIG2	HP:0000822	Hypertension
9860	LRIG2	HP:0000273	Facial grimacing
9860	LRIG2	HP:0005340	Spastic/hyperactive bladder
9863	MAGI2	HP:0003774	Stage 5 chronic kidney disease
9863	MAGI2	HP:0002586	Peritonitis
9863	MAGI2	HP:0000097	Focal segmental glomerulosclerosis
9863	MAGI2	HP:0000093	Proteinuria
9863	MAGI2	HP:0000007	Autosomal recessive inheritance
9863	MAGI2	HP:0002027	Abdominal pain
9863	MAGI2	HP:0100539	Periorbital edema
9863	MAGI2	HP:0003593	Infantile onset
9863	MAGI2	HP:0011947	Respiratory tract infection
9863	MAGI2	HP:0002315	Headache
9863	MAGI2	HP:0012622	Chronic kidney disease
9863	MAGI2	HP:0001967	Diffuse mesangial sclerosis
9863	MAGI2	HP:0001945	Fever
9863	MAGI2	HP:0003073	Hypoalbuminemia
9863	MAGI2	HP:0000737	Irritability
9863	MAGI2	HP:0000707	Abnormality of the nervous system
9863	MAGI2	HP:0000969	Edema
9863	MAGI2	HP:0031504	Foamy urine
9863	MAGI2	HP:0012588	Steroid-resistant nephrotic syndrome
9863	MAGI2	HP:0012579	Minimal change glomerulonephritis
9871	SEC24D	HP:0010862	Delayed fine motor development
9871	SEC24D	HP:0001252	Hypotonia
9871	SEC24D	HP:0001263	Global developmental delay
9871	SEC24D	HP:0008897	Postnatal growth retardation
9871	SEC24D	HP:0000007	Autosomal recessive inheritance
9871	SEC24D	HP:0001334	Communicating hydrocephalus
9871	SEC24D	HP:0002652	Skeletal dysplasia
9871	SEC24D	HP:0002650	Scoliosis
9871	SEC24D	HP:0002645	Wormian bones
9871	SEC24D	HP:0002757	Recurrent fractures
9871	SEC24D	HP:0002007	Frontal bossing
9871	SEC24D	HP:0003312	Abnormal form of the vertebral bodies
9871	SEC24D	HP:0011800	Midface retrusion
9871	SEC24D	HP:0010537	Wide cranial sutures
9871	SEC24D	HP:0000682	Abnormal dental enamel morphology
9871	SEC24D	HP:0000684	Delayed eruption of teeth
9871	SEC24D	HP:0004322	Short stature
9871	SEC24D	HP:0030674	Antenatal onset
9871	SEC24D	HP:0005692	Joint hyperflexibility
9871	SEC24D	HP:0000772	Abnormal rib morphology
9871	SEC24D	HP:0000767	Pectus excavatum
9871	SEC24D	HP:0000703	Dentinogenesis imperfecta
9871	SEC24D	HP:0004443	Lambdoidal craniosynostosis
9871	SEC24D	HP:0004440	Coronal craniosynostosis
9871	SEC24D	HP:0000926	Platyspondyly
9871	SEC24D	HP:0000883	Thin ribs
9871	SEC24D	HP:0000938	Osteopenia
9871	SEC24D	HP:0000944	Abnormal metaphysis morphology
9871	SEC24D	HP:0000262	Turricephaly
9871	SEC24D	HP:0000256	Macrocephaly
9871	SEC24D	HP:0002808	Kyphosis
9871	SEC24D	HP:0006367	Crumpled long bones
9871	SEC24D	HP:0000238	Hydrocephalus
9871	SEC24D	HP:0000218	High palate
9871	SEC24D	HP:0001562	Oligohydramnios
9871	SEC24D	HP:0002868	Narrow iliac wing
9871	SEC24D	HP:0001511	Intrauterine growth retardation
9871	SEC24D	HP:0001608	Abnormality of the voice
9871	SEC24D	HP:0006487	Bowing of the long bones
9871	SEC24D	HP:0000347	Micrognathia
9871	SEC24D	HP:0000316	Hypertelorism
9871	SEC24D	HP:0000325	Triangular face
9871	SEC24D	HP:0001620	High pitched voice
9871	SEC24D	HP:0000308	Microretrognathia
9871	SEC24D	HP:0000494	Downslanted palpebral fissures
9871	SEC24D	HP:0000520	Proptosis
9871	SEC24D	HP:0000592	Blue sclerae
9885	OSBPL2	HP:0000006	Autosomal dominant inheritance
9885	OSBPL2	HP:0000360	Tinnitus
9885	OSBPL2	HP:0000407	Sensorineural hearing impairment
9894	TELO2	HP:0001182	Tapered finger
9894	TELO2	HP:0001156	Brachydactyly
9894	TELO2	HP:0002465	Poor speech
9894	TELO2	HP:0010864	Intellectual disability, severe
9894	TELO2	HP:0001276	Hypertonia
9894	TELO2	HP:0001250	Seizure
9894	TELO2	HP:0001252	Hypotonia
9894	TELO2	HP:0001251	Ataxia
9894	TELO2	HP:0001249	Intellectual disability
9894	TELO2	HP:0001263	Global developmental delay
9894	TELO2	HP:0001257	Spasticity
9894	TELO2	HP:0410263	Brain imaging abnormality
9894	TELO2	HP:0002540	Inability to walk
9894	TELO2	HP:0000081	Duplicated collecting system
9894	TELO2	HP:0001388	Joint laxity
9894	TELO2	HP:0008780	Congenital bilateral hip dislocation
9894	TELO2	HP:0001344	Absent speech
9894	TELO2	HP:0000007	Autosomal recessive inheritance
9894	TELO2	HP:0000191	Accessory oral frenulum
9894	TELO2	HP:0000175	Cleft palate
9894	TELO2	HP:0008947	Infantile muscular hypotonia
9894	TELO2	HP:0007598	Bilateral single transverse palmar creases
9894	TELO2	HP:0002751	Kyphoscoliosis
9894	TELO2	HP:0002714	Downturned corners of mouth
9894	TELO2	HP:0004692	4-5 toe syndactyly
9894	TELO2	HP:0030962	Abnormal morphology of the great vessels
9894	TELO2	HP:0002141	Gait imbalance
9894	TELO2	HP:0003593	Infantile onset
9894	TELO2	HP:0003577	Congenital onset
9894	TELO2	HP:0100704	Cerebral visual impairment
9894	TELO2	HP:0011968	Feeding difficulties
9894	TELO2	HP:0020045	Esodeviation
9894	TELO2	HP:0002360	Sleep disturbance
9894	TELO2	HP:0008513	Bilateral conductive hearing impairment
9894	TELO2	HP:0200055	Small hand
9894	TELO2	HP:0010775	Vascular ring
9894	TELO2	HP:0003623	Neonatal onset
9894	TELO2	HP:0004209	Clinodactyly of the 5th finger
9894	TELO2	HP:0011344	Severe global developmental delay
9894	TELO2	HP:0001999	Abnormal facial shape
9894	TELO2	HP:0004322	Short stature
9894	TELO2	HP:0006979	Sleep-wake cycle disturbance
9894	TELO2	HP:0100022	Abnormality of movement
9894	TELO2	HP:0000767	Pectus excavatum
9894	TELO2	HP:0000768	Pectus carinatum
9894	TELO2	HP:0000749	Paroxysmal bursts of laughter
9894	TELO2	HP:0011451	Primary microcephaly
9894	TELO2	HP:0010296	Ankyloglossia
9894	TELO2	HP:0011590	Double aortic arch
9894	TELO2	HP:0003273	Hip contracture
9894	TELO2	HP:0030084	Clinodactyly
9894	TELO2	HP:0006380	Knee flexion contracture
9894	TELO2	HP:0001583	Rotary nystagmus
9894	TELO2	HP:0000252	Microcephaly
9894	TELO2	HP:0001511	Intrauterine growth retardation
9894	TELO2	HP:0000365	Hearing impairment
9894	TELO2	HP:0001680	Coarctation of aorta
9894	TELO2	HP:0000316	Hypertelorism
9894	TELO2	HP:0000308	Microretrognathia
9894	TELO2	HP:0001734	Annular pancreas
9894	TELO2	HP:0001773	Short foot
9894	TELO2	HP:0000519	Developmental cataract
9894	TELO2	HP:0001845	Overlapping toe
9894	TELO2	HP:0000510	Rod-cone dystrophy
9894	TELO2	HP:0001838	Rocker bottom foot
9894	TELO2	HP:0001800	Hypoplastic toenails
9894	TELO2	HP:0000582	Upslanted palpebral fissure
9894	TELO2	HP:0000592	Blue sclerae
9895	TECPR2	HP:0001290	Generalized hypotonia
9895	TECPR2	HP:0001272	Cerebellar atrophy
9895	TECPR2	HP:0001284	Areflexia
9895	TECPR2	HP:0001250	Seizure
9895	TECPR2	HP:0001252	Hypotonia
9895	TECPR2	HP:0001249	Intellectual disability
9895	TECPR2	HP:0001260	Dysarthria
9895	TECPR2	HP:0001263	Global developmental delay
9895	TECPR2	HP:0001258	Spastic paraplegia
9895	TECPR2	HP:0000007	Autosomal recessive inheritance
9895	TECPR2	HP:0001310	Dysmetria
9895	TECPR2	HP:0002020	Gastroesophageal reflux
9895	TECPR2	HP:0002066	Gait ataxia
9895	TECPR2	HP:0002064	Spastic gait
9895	TECPR2	HP:0002079	Hypoplasia of the corpus callosum
9895	TECPR2	HP:0002059	Cerebral atrophy
9895	TECPR2	HP:0002205	Recurrent respiratory infections
9895	TECPR2	HP:0000678	Dental crowding
9895	TECPR2	HP:0004322	Short stature
9895	TECPR2	HP:0000293	Full cheeks
9895	TECPR2	HP:0000294	Low anterior hairline
9895	TECPR2	HP:0000252	Microcephaly
9895	TECPR2	HP:0000248	Brachycephaly
9895	TECPR2	HP:0002871	Central apnea
9895	TECPR2	HP:0000338	Hypomimic face
9895	TECPR2	HP:0000311	Round face
9895	TECPR2	HP:0000475	Broad neck
9895	TECPR2	HP:0000470	Short neck
9896	FIG4	HP:0001182	Tapered finger
9896	FIG4	HP:0002483	Bulbar signs
9896	FIG4	HP:0001167	Abnormal finger morphology
9896	FIG4	HP:0002493	Upper motor neuron dysfunction
9896	FIG4	HP:0001159	Syndactyly
9896	FIG4	HP:0002460	Distal muscle weakness
9896	FIG4	HP:0010880	Increased nuchal translucency
9896	FIG4	HP:0010862	Delayed fine motor development
9896	FIG4	HP:0009881	Aplasia of the distal phalanges of the hand
9896	FIG4	HP:0009882	Short distal phalanx of finger
9896	FIG4	HP:0008551	Microtia
9896	FIG4	HP:0100817	Renovascular hypertension
9896	FIG4	HP:0001274	Agenesis of corpus callosum
9896	FIG4	HP:0001270	Motor delay
9896	FIG4	HP:0001288	Gait disturbance
9896	FIG4	HP:0001284	Areflexia
9896	FIG4	HP:0001250	Seizure
9896	FIG4	HP:0001252	Hypotonia
9896	FIG4	HP:0001249	Intellectual disability
9896	FIG4	HP:0001265	Hyporeflexia
9896	FIG4	HP:0001263	Global developmental delay
9896	FIG4	HP:0001257	Spasticity
9896	FIG4	HP:0002561	Absent nipple
9896	FIG4	HP:0002557	Hypoplastic nipples
9896	FIG4	HP:0008765	Auditory hallucinations
9896	FIG4	HP:0100852	Abnormal fear/anxiety-related behavior
9896	FIG4	HP:0007373	Motor neuron atrophy
9896	FIG4	HP:0007354	Amyotrophic lateral sclerosis
9896	FIG4	HP:0007333	Hypoplasia of the frontal lobes
9896	FIG4	HP:0007334	Bilateral tonic-clonic seizure with focal onset
9896	FIG4	HP:0008665	Clitoral hypertrophy
9896	FIG4	HP:0002539	Cortical dysplasia
9896	FIG4	HP:0002529	Neuronal loss in central nervous system
9896	FIG4	HP:0003828	Variable expressivity
9896	FIG4	HP:0000059	Hypoplastic labia majora
9896	FIG4	HP:0001374	Congenital hip dislocation
9896	FIG4	HP:0000054	Micropenis
9896	FIG4	HP:0000047	Hypospadias
9896	FIG4	HP:0002683	Abnormal calvaria morphology
9896	FIG4	HP:0001345	Psychotic mentation
9896	FIG4	HP:0002696	Abnormal parietal bone morphology
9896	FIG4	HP:0002692	Hypoplastic facial bones
9896	FIG4	HP:0000028	Cryptorchidism
9896	FIG4	HP:0008897	Postnatal growth retardation
9896	FIG4	HP:0008785	Delayed ossification of pubic rami
9896	FIG4	HP:0000007	Autosomal recessive inheritance
9896	FIG4	HP:0000006	Autosomal dominant inheritance
9896	FIG4	HP:0001302	Pachygyria
9896	FIG4	HP:0001320	Cerebellar vermis hypoplasia
9896	FIG4	HP:0001321	Cerebellar hypoplasia
9896	FIG4	HP:0000187	Broad alveolar ridges
9896	FIG4	HP:0000188	Short upper lip
9896	FIG4	HP:0000162	Glossoptosis
9896	FIG4	HP:0000174	Abnormal palate morphology
9896	FIG4	HP:0025430	High-pitched cry
9896	FIG4	HP:0025425	Laryngospasm
9896	FIG4	HP:0006323	Premature loss of primary teeth
9896	FIG4	HP:0007633	Bilateral microphthalmos
9896	FIG4	HP:0008935	Generalized neonatal hypotonia
9896	FIG4	HP:0002705	High, narrow palate
9896	FIG4	HP:0007598	Bilateral single transverse palmar creases
9896	FIG4	HP:0002795	Abnormal respiratory system physiology
9896	FIG4	HP:0031258	Delirium
9896	FIG4	HP:0002021	Pyloric stenosis
9896	FIG4	HP:0002017	Nausea and vomiting
9896	FIG4	HP:0005989	Redundant neck skin
9896	FIG4	HP:0003324	Generalized muscle weakness
9896	FIG4	HP:0002094	Dyspnea
9896	FIG4	HP:0002092	Pulmonary arterial hypertension
9896	FIG4	HP:0002069	Bilateral tonic-clonic seizure
9896	FIG4	HP:0003394	Muscle spasm
9896	FIG4	HP:0002079	Hypoplasia of the corpus callosum
9896	FIG4	HP:0003383	Onion bulb formation
9896	FIG4	HP:0004611	Anterior concavity of thoracic vertebrae
9896	FIG4	HP:0003474	Somatic sensory dysfunction
9896	FIG4	HP:0003470	Paralysis
9896	FIG4	HP:0002139	Arrhinencephaly
9896	FIG4	HP:0002119	Ventriculomegaly
9896	FIG4	HP:0003447	Axonal loss
9896	FIG4	HP:0002133	Status epilepticus
9896	FIG4	HP:0002126	Polymicrogyria
9896	FIG4	HP:0003431	Decreased motor nerve conduction velocity
9896	FIG4	HP:0002180	Neurodegeneration
9896	FIG4	HP:0002194	Delayed gross motor development
9896	FIG4	HP:0009576	Absent middle phalanx of 2nd finger
9896	FIG4	HP:0009565	Aplasia of the distal phalanx of the 2nd finger
9896	FIG4	HP:0010537	Wide cranial sutures
9896	FIG4	HP:0033258	Sudden unexpected death in epilepsy
9896	FIG4	HP:0009536	Short 2nd finger
9896	FIG4	HP:0003593	Infantile onset
9896	FIG4	HP:0003577	Congenital onset
9896	FIG4	HP:0003581	Adult onset
9896	FIG4	HP:0003561	Birth length less than 3rd percentile
9896	FIG4	HP:0002209	Sparse scalp hair
9896	FIG4	HP:0008362	Aplasia/Hypoplasia of the hallux
9896	FIG4	HP:0007024	Pseudobulbar paralysis
9896	FIG4	HP:0011968	Feeding difficulties
9896	FIG4	HP:0011951	Aspiration pneumonia
9896	FIG4	HP:0008386	Aplasia/Hypoplasia of the nails
9896	FIG4	HP:0002384	Focal impaired awareness seizure
9896	FIG4	HP:0002367	Visual hallucinations
9896	FIG4	HP:0002359	Frequent falls
9896	FIG4	HP:0003676	Progressive
9896	FIG4	HP:0004993	Slender long bones with narrow diaphyses
9896	FIG4	HP:0200021	Down-sloping shoulders
9896	FIG4	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
9896	FIG4	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand
9896	FIG4	HP:0009777	Absent thumb
9896	FIG4	HP:0009778	Short thumb
9896	FIG4	HP:0010743	Short metatarsal
9896	FIG4	HP:0003621	Juvenile onset
9896	FIG4	HP:0007182	Peripheral hypomyelination
9896	FIG4	HP:0010067	Aplasia/hypoplasia of the 1st metatarsal
9896	FIG4	HP:0000647	Sclerocornea
9896	FIG4	HP:0001920	Renal artery stenosis
9896	FIG4	HP:0010035	Aplasia of the 1st metacarpal
9896	FIG4	HP:0011344	Severe global developmental delay
9896	FIG4	HP:0000653	Sparse eyelashes
9896	FIG4	HP:0011309	Tapered toe
9896	FIG4	HP:0001999	Abnormal facial shape
9896	FIG4	HP:0004322	Short stature
9896	FIG4	HP:0004331	Decreased skull ossification
9896	FIG4	HP:0003015	Flared metaphysis
9896	FIG4	HP:0005684	Distal arthrogryposis
9896	FIG4	HP:0000762	Decreased nerve conduction velocity
9896	FIG4	HP:0012725	Cutaneous syndactyly
9896	FIG4	HP:0000737	Irritability
9896	FIG4	HP:0000739	Anxiety
9896	FIG4	HP:0000750	Delayed speech and language development
9896	FIG4	HP:0000716	Depression
9896	FIG4	HP:0000718	Aggressive behavior
9896	FIG4	HP:0000712	Emotional lability
9896	FIG4	HP:0000713	Agitation
9896	FIG4	HP:0000708	Atypical behavior
9896	FIG4	HP:0011451	Primary microcephaly
9896	FIG4	HP:0010102	Aplasia of the distal phalanx of the hallux
9896	FIG4	HP:0010107	Short proximal phalanx of hallux
9896	FIG4	HP:0000773	Short ribs
9896	FIG4	HP:0003180	Flat acetabular roof
9896	FIG4	HP:0005793	Shortening of all distal phalanges of the toes
9896	FIG4	HP:0000882	Hypoplastic scapulae
9896	FIG4	HP:0012809	Narrow nasal base
9896	FIG4	HP:0000822	Hypertension
9896	FIG4	HP:0000894	Short clavicles
9896	FIG4	HP:0003202	Skeletal muscle atrophy
9896	FIG4	HP:0030816	Gingival recession
9896	FIG4	HP:0045075	Sparse eyebrow
9896	FIG4	HP:0000972	Palmoplantar hyperkeratosis
9896	FIG4	HP:0000954	Single transverse palmar crease
9896	FIG4	HP:0000951	Abnormality of the skin
9896	FIG4	HP:0005819	Short middle phalanx of finger
9896	FIG4	HP:0040163	Abnormal pelvis bone morphology
9896	FIG4	HP:0009381	Short finger
9896	FIG4	HP:0012294	Abnormal occipital bone morphology
9896	FIG4	HP:0000286	Epicanthus
9896	FIG4	HP:0000256	Macrocephaly
9896	FIG4	HP:0000268	Dolichocephaly
9896	FIG4	HP:0006466	Ankle flexion contracture
9896	FIG4	HP:0002827	Hip dislocation
9896	FIG4	HP:0030084	Clinodactyly
9896	FIG4	HP:0002808	Kyphosis
9896	FIG4	HP:0000242	Parietal bossing
9896	FIG4	HP:0000239	Large fontanelles
9896	FIG4	HP:0000238	Hydrocephalus
9896	FIG4	HP:0000252	Microcephaly
9896	FIG4	HP:0000217	Xerostomia
9896	FIG4	HP:0000216	Broad secondary alveolar ridge
9896	FIG4	HP:0000219	Thin upper lip vermilion
9896	FIG4	HP:0002878	Respiratory failure
9896	FIG4	HP:0000218	High palate
9896	FIG4	HP:0001561	Polyhydramnios
9896	FIG4	HP:0000233	Thin vermilion border
9896	FIG4	HP:0001531	Failure to thrive in infancy
9896	FIG4	HP:0001525	Severe failure to thrive
9896	FIG4	HP:0001518	Small for gestational age
9896	FIG4	HP:0001511	Intrauterine growth retardation
9896	FIG4	HP:0001510	Growth delay
9896	FIG4	HP:0011061	Abnormality of dental structure
9896	FIG4	HP:0012378	Fatigue
9896	FIG4	HP:0012386	Absent hallux
9896	FIG4	HP:0000385	Small earlobe
9896	FIG4	HP:0000378	Cupped ear
9896	FIG4	HP:0000377	Abnormal pinna morphology
9896	FIG4	HP:0000395	Prominent antihelix
9896	FIG4	HP:0002936	Distal sensory impairment
9896	FIG4	HP:0030196	Fatigable weakness of respiratory muscles
9896	FIG4	HP:0030195	Fatigable weakness of swallowing muscles
9896	FIG4	HP:0030192	Fatigable weakness of bulbar muscles
9896	FIG4	HP:0000365	Hearing impairment
9896	FIG4	HP:0000369	Low-set ears
9896	FIG4	HP:0000348	High forehead
9896	FIG4	HP:0000347	Micrognathia
9896	FIG4	HP:0000316	Hypertelorism
9896	FIG4	HP:0030148	Heart murmur
9896	FIG4	HP:0000331	Short chin
9896	FIG4	HP:0000322	Short philtrum
9896	FIG4	HP:0001655	Patent foramen ovale
9896	FIG4	HP:0001629	Ventricular septal defect
9896	FIG4	HP:0001622	Premature birth
9896	FIG4	HP:0001640	Cardiomegaly
9896	FIG4	HP:0001636	Tetralogy of Fallot
9896	FIG4	HP:0001638	Cardiomyopathy
9896	FIG4	HP:0001631	Atrial septal defect
9896	FIG4	HP:0006628	Absent sternal ossification
9896	FIG4	HP:0006660	Aplastic clavicle
9896	FIG4	HP:0000407	Sensorineural hearing impairment
9896	FIG4	HP:0000486	Strabismus
9896	FIG4	HP:0000463	Anteverted nares
9896	FIG4	HP:0001789	Hydrops fetalis
9896	FIG4	HP:0001798	Anonychia
9896	FIG4	HP:0001770	Toe syndactyly
9896	FIG4	HP:0031589	Suicidal ideation
9896	FIG4	HP:0000411	Protruding ear
9896	FIG4	HP:0025709	Intermediate young adult onset
9896	FIG4	HP:0006713	Aplasia/Hypoplasia of the scapulae
9896	FIG4	HP:0006709	Aplasia/Hypoplasia of the nipples
9896	FIG4	HP:0006710	Aplasia/Hypoplasia of the clavicles
9896	FIG4	HP:0011297	Abnormal digit morphology
9896	FIG4	HP:0005474	Decreased calvarial ossification
9896	FIG4	HP:0005469	Flat occiput
9896	FIG4	HP:0005461	Craniofacial disproportion
9896	FIG4	HP:0000518	Cataract
9896	FIG4	HP:0001840	Metatarsus adductus
9896	FIG4	HP:0000520	Proptosis
9896	FIG4	HP:0001838	Rocker bottom foot
9896	FIG4	HP:0000505	Visual impairment
9896	FIG4	HP:0001831	Short toe
9896	FIG4	HP:0001817	Absent fingernail
9896	FIG4	HP:0000582	Upslanted palpebral fissure
9896	FIG4	HP:0000568	Microphthalmia
9896	FIG4	HP:0001871	Abnormality of blood and blood-forming tissues
9896	FIG4	HP:0012531	Pain
9897	WASHC5	HP:0001156	Brachydactyly
9897	WASHC5	HP:0001161	Hand polydactyly
9897	WASHC5	HP:0001159	Syndactyly
9897	WASHC5	HP:0001195	Single umbilical artery
9897	WASHC5	HP:0002406	Limb dysmetria
9897	WASHC5	HP:0007291	Posterior fossa cyst
9897	WASHC5	HP:0001290	Generalized hypotonia
9897	WASHC5	HP:0001252	Hypotonia
9897	WASHC5	HP:0001249	Intellectual disability
9897	WASHC5	HP:0001260	Dysarthria
9897	WASHC5	HP:0001263	Global developmental delay
9897	WASHC5	HP:0001258	Spastic paraplegia
9897	WASHC5	HP:0002566	Intestinal malrotation
9897	WASHC5	HP:0006101	Finger syndactyly
9897	WASHC5	HP:0008736	Hypoplasia of penis
9897	WASHC5	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9897	WASHC5	HP:0007350	Hyperreflexia in upper limbs
9897	WASHC5	HP:0007340	Lower limb muscle weakness
9897	WASHC5	HP:0000047	Hypospadias
9897	WASHC5	HP:0000023	Inguinal hernia
9897	WASHC5	HP:0000020	Urinary incontinence
9897	WASHC5	HP:0001347	Hyperreflexia
9897	WASHC5	HP:0008897	Postnatal growth retardation
9897	WASHC5	HP:0008872	Feeding difficulties in infancy
9897	WASHC5	HP:0000012	Urinary urgency
9897	WASHC5	HP:0000007	Autosomal recessive inheritance
9897	WASHC5	HP:0000006	Autosomal dominant inheritance
9897	WASHC5	HP:0001305	Dandy-Walker malformation
9897	WASHC5	HP:0002650	Scoliosis
9897	WASHC5	HP:0000175	Cleft palate
9897	WASHC5	HP:0002705	High, narrow palate
9897	WASHC5	HP:0000126	Hydronephrosis
9897	WASHC5	HP:0002023	Anal atresia
9897	WASHC5	HP:0002020	Gastroesophageal reflux
9897	WASHC5	HP:0002015	Dysphagia
9897	WASHC5	HP:0002007	Frontal bossing
9897	WASHC5	HP:0100561	Spinal cord lesion
9897	WASHC5	HP:0003394	Muscle spasm
9897	WASHC5	HP:0002064	Spastic gait
9897	WASHC5	HP:0002061	Lower limb spasticity
9897	WASHC5	HP:0002070	Limb ataxia
9897	WASHC5	HP:0003487	Babinski sign
9897	WASHC5	HP:0002119	Ventriculomegaly
9897	WASHC5	HP:0003457	EMG abnormality
9897	WASHC5	HP:0003419	Low back pain
9897	WASHC5	HP:0002169	Clonus
9897	WASHC5	HP:0002166	Impaired vibration sensation in the lower limbs
9897	WASHC5	HP:0002167	Abnormality of speech or vocalization
9897	WASHC5	HP:0002162	Low posterior hairline
9897	WASHC5	HP:0003596	Middle age onset
9897	WASHC5	HP:0002269	Abnormality of neuronal migration
9897	WASHC5	HP:0003587	Insidious onset
9897	WASHC5	HP:0002205	Recurrent respiratory infections
9897	WASHC5	HP:0007020	Progressive spastic paraplegia
9897	WASHC5	HP:0002395	Lower limb hyperreflexia
9897	WASHC5	HP:0003676	Progressive
9897	WASHC5	HP:0002355	Difficulty walking
9897	WASHC5	HP:0002314	Degeneration of the lateral corticospinal tracts
9897	WASHC5	HP:0000648	Optic atrophy
9897	WASHC5	HP:0000612	Iris coloboma
9897	WASHC5	HP:0009049	Peroneal muscle atrophy
9897	WASHC5	HP:0004322	Short stature
9897	WASHC5	HP:0006986	Upper limb spasticity
9897	WASHC5	HP:0004383	Hypoplastic left heart
9897	WASHC5	HP:0004397	Ectopic anus
9897	WASHC5	HP:0011462	Young adult onset
9897	WASHC5	HP:0003196	Short nose
9897	WASHC5	HP:0000921	Missing ribs
9897	WASHC5	HP:0000835	Adrenal hypoplasia
9897	WASHC5	HP:0000824	Decreased response to growth hormone stimulation test
9897	WASHC5	HP:0012898	Abnormal lower-limb motor evoked potentials
9897	WASHC5	HP:0003272	Abnormal hip bone morphology
9897	WASHC5	HP:0008075	Progressive pes cavus
9897	WASHC5	HP:0000256	Macrocephaly
9897	WASHC5	HP:0000269	Prominent occiput
9897	WASHC5	HP:0002808	Kyphosis
9897	WASHC5	HP:0000238	Hydrocephalus
9897	WASHC5	HP:0000235	Abnormality of the fontanelles or cranial sutures
9897	WASHC5	HP:0000248	Brachycephaly
9897	WASHC5	HP:0001522	Death in infancy
9897	WASHC5	HP:0000202	Orofacial cleft
9897	WASHC5	HP:0002839	Urinary bladder sphincter dysfunction
9897	WASHC5	HP:0001511	Intrauterine growth retardation
9897	WASHC5	HP:0000384	Preauricular skin tag
9897	WASHC5	HP:0002937	Hemivertebrae
9897	WASHC5	HP:0002921	Abnormal cerebrospinal fluid morphology
9897	WASHC5	HP:0000369	Low-set ears
9897	WASHC5	HP:0000337	Broad forehead
9897	WASHC5	HP:0000348	High forehead
9897	WASHC5	HP:0000347	Micrognathia
9897	WASHC5	HP:0001650	Aortic valve stenosis
9897	WASHC5	HP:0000316	Hypertelorism
9897	WASHC5	HP:0001642	Pulmonic stenosis
9897	WASHC5	HP:0000329	Facial hemangioma
9897	WASHC5	HP:0001629	Ventricular septal defect
9897	WASHC5	HP:0001636	Tetralogy of Fallot
9897	WASHC5	HP:0001631	Atrial septal defect
9897	WASHC5	HP:0001633	Abnormal mitral valve morphology
9897	WASHC5	HP:0006695	Atrioventricular canal defect
9897	WASHC5	HP:0001702	Abnormal tricuspid valve morphology
9897	WASHC5	HP:0001719	Double outlet right ventricle
9897	WASHC5	HP:0005280	Depressed nasal bridge
9897	WASHC5	HP:0000494	Downslanted palpebral fissures
9897	WASHC5	HP:0000470	Short neck
9897	WASHC5	HP:0000431	Wide nasal bridge
9897	WASHC5	HP:0001761	Pes cavus
9897	WASHC5	HP:0006709	Aplasia/Hypoplasia of the nipples
9897	WASHC5	HP:0000501	Glaucoma
9897	WASHC5	HP:0001804	Hypoplastic fingernail
9897	WASHC5	HP:0000589	Coloboma
9897	WASHC5	HP:0000567	Chorioretinal coloboma
9907	AP5Z1	HP:0001268	Mental deterioration
9907	AP5Z1	HP:0001256	Intellectual disability, mild
9907	AP5Z1	HP:0001251	Ataxia
9907	AP5Z1	HP:0001249	Intellectual disability
9907	AP5Z1	HP:0001263	Global developmental delay
9907	AP5Z1	HP:0001258	Spastic paraplegia
9907	AP5Z1	HP:0007340	Lower limb muscle weakness
9907	AP5Z1	HP:0000020	Urinary incontinence
9907	AP5Z1	HP:0001347	Hyperreflexia
9907	AP5Z1	HP:0033725	Thin corpus callosum
9907	AP5Z1	HP:0000007	Autosomal recessive inheritance
9907	AP5Z1	HP:0001336	Myoclonus
9907	AP5Z1	HP:0001310	Dysmetria
9907	AP5Z1	HP:0001300	Parkinsonism
9907	AP5Z1	HP:0003319	Abnormality of the cervical spine
9907	AP5Z1	HP:0100543	Cognitive impairment
9907	AP5Z1	HP:0002064	Spastic gait
9907	AP5Z1	HP:0002061	Lower limb spasticity
9907	AP5Z1	HP:0002079	Hypoplasia of the corpus callosum
9907	AP5Z1	HP:0002136	Broad-based gait
9907	AP5Z1	HP:0003596	Middle age onset
9907	AP5Z1	HP:0003593	Infantile onset
9907	AP5Z1	HP:0007020	Progressive spastic paraplegia
9907	AP5Z1	HP:0003676	Progressive
9907	AP5Z1	HP:0002313	Spastic paraparesis
9907	AP5Z1	HP:0009830	Peripheral neuropathy
9907	AP5Z1	HP:0003236	Elevated circulating creatine kinase concentration
9907	AP5Z1	HP:0030890	Hyperintensity of cerebral white matter on MRI
9907	AP5Z1	HP:0030891	Periventricular white matter hyperintensities
9907	AP5Z1	HP:0002839	Urinary bladder sphincter dysfunction
9907	AP5Z1	HP:0030051	Tip-toe gait
9907	AP5Z1	HP:0000488	Retinopathy
9915	ARNT2	HP:0001274	Agenesis of corpus callosum
9915	ARNT2	HP:0001250	Seizure
9915	ARNT2	HP:0001249	Intellectual disability
9915	ARNT2	HP:0001263	Global developmental delay
9915	ARNT2	HP:0001257	Spasticity
9915	ARNT2	HP:0002575	Tracheoesophageal fistula
9915	ARNT2	HP:0100842	Septo-optic dysplasia
9915	ARNT2	HP:0008736	Hypoplasia of penis
9915	ARNT2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
9915	ARNT2	HP:0000076	Vesicoureteral reflux
9915	ARNT2	HP:0000028	Cryptorchidism
9915	ARNT2	HP:0001331	Absent septum pellucidum
9915	ARNT2	HP:0000011	Neurogenic bladder
9915	ARNT2	HP:0000007	Autosomal recessive inheritance
9915	ARNT2	HP:0000175	Cleft palate
9915	ARNT2	HP:0000126	Hydronephrosis
9915	ARNT2	HP:0002020	Gastroesophageal reflux
9915	ARNT2	HP:0002019	Constipation
9915	ARNT2	HP:0002032	Esophageal atresia
9915	ARNT2	HP:0002079	Hypoplasia of the corpus callosum
9915	ARNT2	HP:0008245	Pituitary hypothyroidism
9915	ARNT2	HP:0010627	Anterior pituitary hypoplasia
9915	ARNT2	HP:0002360	Sleep disturbance
9915	ARNT2	HP:0009800	Maternal diabetes
9915	ARNT2	HP:0000639	Nystagmus
9915	ARNT2	HP:0000618	Blindness
9915	ARNT2	HP:0001959	Polydipsia
9915	ARNT2	HP:0000609	Optic nerve hypoplasia
9915	ARNT2	HP:0011344	Severe global developmental delay
9915	ARNT2	HP:0004322	Short stature
9915	ARNT2	HP:0030680	Abnormality of cardiovascular system morphology
9915	ARNT2	HP:0004374	Hemiplegia/hemiparesis
9915	ARNT2	HP:0000717	Autism
9915	ARNT2	HP:0000873	Diabetes insipidus
9915	ARNT2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
9915	ARNT2	HP:0000824	Decreased response to growth hormone stimulation test
9915	ARNT2	HP:0003228	Hypernatremia
9915	ARNT2	HP:0000958	Dry skin
9915	ARNT2	HP:0000966	Hypohidrosis
9915	ARNT2	HP:0000278	Retrognathia
9915	ARNT2	HP:0002827	Hip dislocation
9915	ARNT2	HP:0000252	Microcephaly
9915	ARNT2	HP:0001513	Obesity
9915	ARNT2	HP:0012378	Fatigue
9915	ARNT2	HP:0000407	Sensorineural hearing impairment
9915	ARNT2	HP:0000486	Strabismus
9915	ARNT2	HP:0000490	Deeply set eye
9915	ARNT2	HP:0012448	Delayed myelination
9915	ARNT2	HP:0000458	Anosmia
9915	ARNT2	HP:0005484	Secondary microcephaly
9915	ARNT2	HP:0000505	Visual impairment
9915	ARNT2	HP:0011220	Prominent forehead
9918	NCAPD2	HP:0001344	Absent speech
9918	NCAPD2	HP:0000007	Autosomal recessive inheritance
9918	NCAPD2	HP:0003577	Congenital onset
9918	NCAPD2	HP:0002342	Intellectual disability, moderate
9918	NCAPD2	HP:0004322	Short stature
9918	NCAPD2	HP:0000729	Autistic behavior
9918	NCAPD2	HP:0011451	Primary microcephaly
9918	NCAPD2	HP:0001518	Small for gestational age
9918	NCAPD2	HP:0000340	Sloping forehead
9922	IQSEC1	HP:0010864	Intellectual disability, severe
9922	IQSEC1	HP:0001290	Generalized hypotonia
9922	IQSEC1	HP:0001270	Motor delay
9922	IQSEC1	HP:0001250	Seizure
9922	IQSEC1	HP:0001263	Global developmental delay
9922	IQSEC1	HP:0001344	Absent speech
9922	IQSEC1	HP:0000007	Autosomal recessive inheritance
9922	IQSEC1	HP:0002066	Gait ataxia
9922	IQSEC1	HP:0002133	Status epilepticus
9922	IQSEC1	HP:0007018	Attention deficit hyperactivity disorder
9922	IQSEC1	HP:0004322	Short stature
9922	IQSEC1	HP:0031936	Delayed ability to walk
9922	IQSEC1	HP:0000718	Aggressive behavior
9922	IQSEC1	HP:0000252	Microcephaly
9922	IQSEC1	HP:0000505	Visual impairment
9927	MFN2	HP:0001155	Abnormality of the hand
9927	MFN2	HP:0002495	Impaired vibratory sensation
9927	MFN2	HP:0002460	Distal muscle weakness
9927	MFN2	HP:0007328	Impaired pain sensation
9927	MFN2	HP:0008587	Mild neurosensory hearing impairment
9927	MFN2	HP:0003731	Quadriceps muscle weakness
9927	MFN2	HP:0002403	Positive Romberg sign
9927	MFN2	HP:0003701	Proximal muscle weakness
9927	MFN2	HP:0001276	Hypertonia
9927	MFN2	HP:0025238	Foot pain
9927	MFN2	HP:0001268	Mental deterioration
9927	MFN2	HP:0001288	Gait disturbance
9927	MFN2	HP:0001284	Areflexia
9927	MFN2	HP:0001265	Hyporeflexia
9927	MFN2	HP:0001257	Spasticity
9927	MFN2	HP:0002522	Areflexia of lower limbs
9927	MFN2	HP:0003828	Variable expressivity
9927	MFN2	HP:0003829	Typified by incomplete penetrance
9927	MFN2	HP:0001371	Flexion contracture
9927	MFN2	HP:0001387	Joint stiffness
9927	MFN2	HP:0001347	Hyperreflexia
9927	MFN2	HP:0000007	Autosomal recessive inheritance
9927	MFN2	HP:0001337	Tremor
9927	MFN2	HP:0000006	Autosomal dominant inheritance
9927	MFN2	HP:0002650	Scoliosis
9927	MFN2	HP:0001315	Reduced tendon reflexes
9927	MFN2	HP:0031108	Triceps weakness
9927	MFN2	HP:0002601	Paresis of extensor muscles of the big toe
9927	MFN2	HP:0008944	Distal lower limb amyotrophy
9927	MFN2	HP:0002747	Respiratory insufficiency due to muscle weakness
9927	MFN2	HP:0003394	Muscle spasm
9927	MFN2	HP:0003390	Sensory axonal neuropathy
9927	MFN2	HP:0003378	Axonal degeneration/regeneration
9927	MFN2	HP:0003376	Steppage gait
9927	MFN2	HP:0003383	Onion bulb formation
9927	MFN2	HP:0003384	Peripheral axonal atrophy
9927	MFN2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
9927	MFN2	HP:0003477	Peripheral axonal neuropathy
9927	MFN2	HP:0002143	Abnormal spinal cord morphology
9927	MFN2	HP:0003474	Somatic sensory dysfunction
9927	MFN2	HP:0003487	Babinski sign
9927	MFN2	HP:0003448	Decreased sensory nerve conduction velocity
9927	MFN2	HP:0003431	Decreased motor nerve conduction velocity
9927	MFN2	HP:0003444	EMG: chronic denervation signs
9927	MFN2	HP:0003438	Absent Achilles reflex
9927	MFN2	HP:0003409	Distal sensory impairment of all modalities
9927	MFN2	HP:0002194	Delayed gross motor development
9927	MFN2	HP:0002174	Postural tremor
9927	MFN2	HP:0003401	Paresthesia
9927	MFN2	HP:0003593	Infantile onset
9927	MFN2	HP:0002240	Hepatomegaly
9927	MFN2	HP:0003551	Difficulty climbing stairs
9927	MFN2	HP:0007010	Poor fine motor coordination
9927	MFN2	HP:0003693	Distal amyotrophy
9927	MFN2	HP:0003690	Limb muscle weakness
9927	MFN2	HP:0002359	Frequent falls
9927	MFN2	HP:0002378	Hand tremor
9927	MFN2	HP:0001012	Multiple lipomas
9927	MFN2	HP:0002355	Difficulty walking
9927	MFN2	HP:0003677	Slowly progressive
9927	MFN2	HP:0010829	Impaired temperature sensation
9927	MFN2	HP:0009830	Peripheral neuropathy
9927	MFN2	HP:0003621	Juvenile onset
9927	MFN2	HP:0006844	Absent patellar reflexes
9927	MFN2	HP:0000649	Abnormality of visual evoked potentials
9927	MFN2	HP:0000648	Optic atrophy
9927	MFN2	HP:0000641	Dysmetric saccades
9927	MFN2	HP:0000603	Central scotoma
9927	MFN2	HP:0009053	Distal lower limb muscle weakness
9927	MFN2	HP:0009046	Difficulty running
9927	MFN2	HP:0009027	Foot dorsiflexor weakness
9927	MFN2	HP:0000662	Nyctalopia
9927	MFN2	HP:0006915	Inability to walk by childhood/adolescence
9927	MFN2	HP:0011463	Childhood onset
9927	MFN2	HP:0009124	Abnormal adipose tissue morphology
9927	MFN2	HP:0000855	Insulin resistance
9927	MFN2	HP:0006460	Increased laxity of ankles
9927	MFN2	HP:0002829	Arthralgia
9927	MFN2	HP:0002808	Kyphosis
9927	MFN2	HP:0000238	Hydrocephalus
9927	MFN2	HP:0001609	Hoarse voice
9927	MFN2	HP:0002938	Lumbar hyperlordosis
9927	MFN2	HP:0002936	Distal sensory impairment
9927	MFN2	HP:0001605	Vocal cord paralysis
9927	MFN2	HP:0001604	Vocal cord paresis
9927	MFN2	HP:0001618	Dysphonia
9927	MFN2	HP:0000365	Hearing impairment
9927	MFN2	HP:0000360	Tinnitus
9927	MFN2	HP:0007924	Slow decrease in visual acuity
9927	MFN2	HP:0000407	Sensorineural hearing impairment
9927	MFN2	HP:0030237	Hand muscle weakness
9927	MFN2	HP:0012452	Restless legs
9927	MFN2	HP:0000458	Anosmia
9927	MFN2	HP:0001765	Hammertoe
9927	MFN2	HP:0001760	Abnormal foot morphology
9927	MFN2	HP:0001761	Pes cavus
9927	MFN2	HP:0012531	Pain
9927	MFN2	HP:0000551	Color vision defect
9927	MFN2	HP:0012513	Upper limb pain
9927	MFN2	HP:0000543	Optic disc pallor
9928	KIF14	HP:0002465	Poor speech
9928	KIF14	HP:0002472	Small cerebral cortex
9928	KIF14	HP:0010958	Bilateral renal agenesis
9928	KIF14	HP:0010864	Intellectual disability, severe
9928	KIF14	HP:0009879	Simplified gyral pattern
9928	KIF14	HP:0001290	Generalized hypotonia
9928	KIF14	HP:0001274	Agenesis of corpus callosum
9928	KIF14	HP:0001249	Intellectual disability
9928	KIF14	HP:0001263	Global developmental delay
9928	KIF14	HP:0007333	Hypoplasia of the frontal lobes
9928	KIF14	HP:0000089	Renal hypoplasia
9928	KIF14	HP:0000076	Vesicoureteral reflux
9928	KIF14	HP:0001347	Hyperreflexia
9928	KIF14	HP:0000013	Hypoplasia of the uterus
9928	KIF14	HP:0000007	Autosomal recessive inheritance
9928	KIF14	HP:0001302	Pachygyria
9928	KIF14	HP:0001321	Cerebellar hypoplasia
9928	KIF14	HP:0032464	Ureteral hypoplasia
9928	KIF14	HP:0000193	Bifid uvula
9928	KIF14	HP:0000148	Vaginal atresia
9928	KIF14	HP:0000122	Unilateral renal agenesis
9928	KIF14	HP:0002079	Hypoplasia of the corpus callosum
9928	KIF14	HP:0002139	Arrhinencephaly
9928	KIF14	HP:0002119	Ventriculomegaly
9928	KIF14	HP:0002194	Delayed gross motor development
9928	KIF14	HP:0004719	Hyperechogenic kidneys
9928	KIF14	HP:0002282	Gray matter heterotopia
9928	KIF14	HP:0007018	Attention deficit hyperactivity disorder
9928	KIF14	HP:0002335	Agenesis of cerebellar vermis
9928	KIF14	HP:0009760	Antecubital pterygium
9928	KIF14	HP:0003623	Neonatal onset
9928	KIF14	HP:0006872	Cerebral hypoplasia
9928	KIF14	HP:0000618	Blindness
9928	KIF14	HP:0000609	Optic nerve hypoplasia
9928	KIF14	HP:0004322	Short stature
9928	KIF14	HP:0034198	Second trimester onset
9928	KIF14	HP:0011463	Childhood onset
9928	KIF14	HP:0003103	Abnormal cortical bone morphology
9928	KIF14	HP:0045028	Microlissencephaly
9928	KIF14	HP:0002804	Arthrogryposis multiplex congenita
9928	KIF14	HP:0000252	Microcephaly
9928	KIF14	HP:0000219	Thin upper lip vermilion
9928	KIF14	HP:0001562	Oligohydramnios
9928	KIF14	HP:0001511	Intrauterine growth retardation
9928	KIF14	HP:0001510	Growth delay
9928	KIF14	HP:0000369	Low-set ears
9928	KIF14	HP:0000340	Sloping forehead
9928	KIF14	HP:0000347	Micrognathia
9928	KIF14	HP:0012300	Ureteral agenesis
9928	KIF14	HP:0000486	Strabismus
9928	KIF14	HP:0000463	Anteverted nares
9928	KIF14	HP:0000431	Wide nasal bridge
9928	KIF14	HP:0001838	Rocker bottom foot
9928	KIF14	HP:0000582	Upslanted palpebral fissure
9928	KIF14	HP:0000568	Microphthalmia
9935	MAFB	HP:0001177	Preaxial hand polydactyly
9935	MAFB	HP:0001156	Brachydactyly
9935	MAFB	HP:0003774	Stage 5 chronic kidney disease
9935	MAFB	HP:0001199	Triphalangeal thumb
9935	MAFB	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
9935	MAFB	HP:0009921	Duane anomaly
9935	MAFB	HP:0008572	External ear malformation
9935	MAFB	HP:0001288	Gait disturbance
9935	MAFB	HP:0001250	Seizure
9935	MAFB	HP:0001263	Global developmental delay
9935	MAFB	HP:0001225	Wrist swelling
9935	MAFB	HP:0007400	Irregular hyperpigmentation
9935	MAFB	HP:0002540	Inability to walk
9935	MAFB	HP:0000083	Renal insufficiency
9935	MAFB	HP:0000086	Ectopic kidney
9935	MAFB	HP:0000093	Proteinuria
9935	MAFB	HP:0001376	Limitation of joint mobility
9935	MAFB	HP:0001357	Plagiocephaly
9935	MAFB	HP:0006234	Osteolysis involving tarsal bones
9935	MAFB	HP:0000006	Autosomal dominant inheritance
9935	MAFB	HP:0003974	Absent radius
9935	MAFB	HP:0001495	Carpal osteolysis
9935	MAFB	HP:0000175	Cleft palate
9935	MAFB	HP:0001473	Metatarsal osteolysis
9935	MAFB	HP:0002797	Osteolysis
9935	MAFB	HP:0005021	Bilateral elbow dislocations
9935	MAFB	HP:0000112	Nephropathy
9935	MAFB	HP:0002714	Downturned corners of mouth
9935	MAFB	HP:0003312	Abnormal form of the vertebral bodies
9935	MAFB	HP:0005930	Abnormal epiphysis morphology
9935	MAFB	HP:0009487	Ulnar deviation of the hand
9935	MAFB	HP:0003457	EMG abnormality
9935	MAFB	HP:0009601	Aplasia/Hypoplasia of the thumb
9935	MAFB	HP:0002162	Low posterior hairline
9935	MAFB	HP:0100490	Camptodactyly of finger
9935	MAFB	HP:0003593	Infantile onset
9935	MAFB	HP:0001053	Hypopigmented skin patches
9935	MAFB	HP:0003621	Juvenile onset
9935	MAFB	HP:0000639	Nystagmus
9935	MAFB	HP:0000634	Impaired ocular abduction
9935	MAFB	HP:0000646	Amblyopia
9935	MAFB	HP:0000643	Blepharospasm
9935	MAFB	HP:0000612	Iris coloboma
9935	MAFB	HP:0000615	Abnormal pupil morphology
9935	MAFB	HP:0011386	Narrow internal auditory canal
9935	MAFB	HP:0011365	Patchy hypopigmentation of hair
9935	MAFB	HP:0000661	Palpebral fissure narrowing on adduction
9935	MAFB	HP:0004326	Cachexia
9935	MAFB	HP:0005640	Abnormal vertebral segmentation and fusion
9935	MAFB	HP:0030680	Abnormality of cardiovascular system morphology
9935	MAFB	HP:0003019	Abnormality of the wrist
9935	MAFB	HP:0012745	Short palpebral fissure
9935	MAFB	HP:0012732	Anorectal anomaly
9935	MAFB	HP:0011463	Childhood onset
9935	MAFB	HP:0011462	Young adult onset
9935	MAFB	HP:0000776	Congenital diaphragmatic hernia
9935	MAFB	HP:0003100	Slender long bone
9935	MAFB	HP:0000822	Hypertension
9935	MAFB	HP:0003202	Skeletal muscle atrophy
9935	MAFB	HP:0003298	Spina bifida occulta
9935	MAFB	HP:0030836	Wrist pain
9935	MAFB	HP:0030840	Ankle pain
9935	MAFB	HP:0000938	Osteopenia
9935	MAFB	HP:0012246	Oculomotor nerve palsy
9935	MAFB	HP:0007766	Optic disc hypoplasia
9935	MAFB	HP:0002829	Arthralgia
9935	MAFB	HP:0000252	Microcephaly
9935	MAFB	HP:0001561	Polyhydramnios
9935	MAFB	HP:0000232	Everted lower lip vermilion
9935	MAFB	HP:0001504	Metacarpal osteolysis
9935	MAFB	HP:0007818	Central heterochromia
9935	MAFB	HP:0012385	Camptodactyly
9935	MAFB	HP:0000384	Preauricular skin tag
9935	MAFB	HP:0000365	Hearing impairment
9935	MAFB	HP:0000347	Micrognathia
9935	MAFB	HP:0000327	Hypoplasia of the maxilla
9935	MAFB	HP:0000325	Triangular face
9935	MAFB	HP:0002984	Hypoplasia of the radius
9935	MAFB	HP:0000324	Facial asymmetry
9935	MAFB	HP:0007957	Corneal opacity
9935	MAFB	HP:0007990	Hypoplastic iris stroma
9935	MAFB	HP:0000407	Sensorineural hearing impairment
9935	MAFB	HP:0000402	Stenosis of the external auditory canal
9935	MAFB	HP:0000486	Strabismus
9935	MAFB	HP:0000482	Microcornea
9935	MAFB	HP:0000496	Abnormality of eye movement
9935	MAFB	HP:0000490	Deeply set eye
9935	MAFB	HP:0000463	Anteverted nares
9935	MAFB	HP:0001785	Ankle swelling
9935	MAFB	HP:0000470	Short neck
9935	MAFB	HP:0000465	Webbed neck
9935	MAFB	HP:0001762	Talipes equinovarus
9935	MAFB	HP:0000431	Wide nasal bridge
9935	MAFB	HP:0001761	Pes cavus
9935	MAFB	HP:0000526	Aniridia
9935	MAFB	HP:0000520	Proptosis
9935	MAFB	HP:0000506	Telecanthus
9935	MAFB	HP:0000508	Ptosis
9935	MAFB	HP:0012586	Bilateral renal atrophy
9935	MAFB	HP:0000581	Blepharophimosis
9935	MAFB	HP:0000567	Chorioretinal coloboma
9935	MAFB	HP:0000542	Impaired ocular adduction
9939	RBM8A	HP:0001181	Adducted thumb
9939	RBM8A	HP:0010946	Dilatation of the renal pelvis
9939	RBM8A	HP:0002414	Spina bifida
9939	RBM8A	HP:0001270	Motor delay
9939	RBM8A	HP:0001250	Seizure
9939	RBM8A	HP:0001249	Intellectual disability
9939	RBM8A	HP:0001263	Global developmental delay
9939	RBM8A	HP:0006101	Finger syndactyly
9939	RBM8A	HP:0007413	Nevus flammeus of the forehead
9939	RBM8A	HP:0000085	Horseshoe kidney
9939	RBM8A	HP:0000077	Abnormality of the kidney
9939	RBM8A	HP:0000076	Vesicoureteral reflux
9939	RBM8A	HP:0000073	Ureteral duplication
9939	RBM8A	HP:0007514	Edema of the dorsum of hands
9939	RBM8A	HP:0012098	Edema of the dorsum of feet
9939	RBM8A	HP:0002673	Coxa valga
9939	RBM8A	HP:0000007	Autosomal recessive inheritance
9939	RBM8A	HP:0001320	Cerebellar vermis hypoplasia
9939	RBM8A	HP:0002650	Scoliosis
9939	RBM8A	HP:0001321	Cerebellar hypoplasia
9939	RBM8A	HP:0003974	Absent radius
9939	RBM8A	HP:0001498	Carpal bone hypoplasia
9939	RBM8A	HP:0000175	Cleft palate
9939	RBM8A	HP:0000151	Aplasia of the uterus
9939	RBM8A	HP:0008952	Shoulder muscle hypoplasia
9939	RBM8A	HP:0000119	Abnormality of the genitourinary system
9939	RBM8A	HP:0001433	Hepatosplenomegaly
9939	RBM8A	HP:0003396	Syringomyelia
9939	RBM8A	HP:0009487	Ulnar deviation of the hand
9939	RBM8A	HP:0009486	Radial deviation of the hand
9939	RBM8A	HP:0002188	Delayed CNS myelination
9939	RBM8A	HP:0004717	Axial malrotation of the kidney
9939	RBM8A	HP:0004712	Renal malrotation
9939	RBM8A	HP:0002245	Meckel diverticulum
9939	RBM8A	HP:0003577	Congenital onset
9939	RBM8A	HP:0009702	Carpal synostosis
9939	RBM8A	HP:0002389	Cavum septum pellucidum
9939	RBM8A	HP:0001051	Seborrheic dermatitis
9939	RBM8A	HP:0004977	Bilateral radial aplasia
9939	RBM8A	HP:0009829	Phocomelia
9939	RBM8A	HP:0009803	Short phalanx of finger
9939	RBM8A	HP:0100694	Tibial torsion
9939	RBM8A	HP:0009777	Absent thumb
9939	RBM8A	HP:0009778	Short thumb
9939	RBM8A	HP:0004209	Clinodactyly of the 5th finger
9939	RBM8A	HP:0001974	Leukocytosis
9939	RBM8A	HP:0001928	Abnormality of coagulation
9939	RBM8A	HP:0001903	Anemia
9939	RBM8A	HP:0011304	Broad thumb
9939	RBM8A	HP:0004322	Short stature
9939	RBM8A	HP:0004313	Decreased circulating antibody level
9939	RBM8A	HP:0003031	Ulnar bowing
9939	RBM8A	HP:0003043	Abnormal shoulder morphology
9939	RBM8A	HP:0003022	Hypoplasia of the ulna
9939	RBM8A	HP:0005773	Short forearm
9939	RBM8A	HP:0000891	Cervical ribs
9939	RBM8A	HP:0100327	Cow milk allergy
9939	RBM8A	HP:0000895	Lateral clavicle hook
9939	RBM8A	HP:0000996	Facial capillary hemangioma
9939	RBM8A	HP:0000272	Malar flattening
9939	RBM8A	HP:0006443	Patellar aplasia
9939	RBM8A	HP:0002827	Hip dislocation
9939	RBM8A	HP:0000248	Brachycephaly
9939	RBM8A	HP:0001522	Death in infancy
9939	RBM8A	HP:0006507	Aplasia/hypoplasia of the humerus
9939	RBM8A	HP:0002949	Fused cervical vertebrae
9939	RBM8A	HP:0006495	Aplasia/Hypoplasia of the ulna
9939	RBM8A	HP:0006498	Aplasia/Hypoplasia of the patella
9939	RBM8A	HP:0000368	Low-set, posteriorly rotated ears
9939	RBM8A	HP:0001671	Abnormal cardiac septum morphology
9939	RBM8A	HP:0000337	Broad forehead
9939	RBM8A	HP:0002999	Patellar dislocation
9939	RBM8A	HP:0001680	Coarctation of aorta
9939	RBM8A	HP:0000348	High forehead
9939	RBM8A	HP:0000347	Micrognathia
9939	RBM8A	HP:0030137	Prolonged bleeding following circumcision
9939	RBM8A	HP:0002980	Femoral bowing
9939	RBM8A	HP:0001643	Patent ductus arteriosus
9939	RBM8A	HP:0002990	Fibular aplasia
9939	RBM8A	HP:0002984	Hypoplasia of the radius
9939	RBM8A	HP:0001629	Ventricular septal defect
9939	RBM8A	HP:0002970	Genu varum
9939	RBM8A	HP:0001636	Tetralogy of Fallot
9939	RBM8A	HP:0001631	Atrial septal defect
9939	RBM8A	HP:0007957	Corneal opacity
9939	RBM8A	HP:0006695	Atrioventricular canal defect
9939	RBM8A	HP:0000407	Sensorineural hearing impairment
9939	RBM8A	HP:0001737	Pancreatic cysts
9939	RBM8A	HP:0000486	Strabismus
9939	RBM8A	HP:0000463	Anteverted nares
9939	RBM8A	HP:0001762	Talipes equinovarus
9939	RBM8A	HP:0000518	Cataract
9939	RBM8A	HP:0000508	Ptosis
9939	RBM8A	HP:0001880	Eosinophilia
9939	RBM8A	HP:0001873	Thrombocytopenia
9940	DLEC1	HP:0008872	Feeding difficulties in infancy
9940	DLEC1	HP:0002716	Lymphadenopathy
9940	DLEC1	HP:0002017	Nausea and vomiting
9940	DLEC1	HP:0100749	Chest pain
9940	DLEC1	HP:0012735	Cough
9940	DLEC1	HP:0011459	Esophageal carcinoma
9940	DLEC1	HP:0001608	Abnormality of the voice
9940	DLEC1	HP:0001864	Clinodactyly of the 5th toe
9948	WDR1	HP:0010976	B lymphocytopenia
9948	WDR1	HP:0001328	Specific learning disability
9948	WDR1	HP:0000007	Autosomal recessive inheritance
9948	WDR1	HP:0025452	Pyoderma gangrenosum
9948	WDR1	HP:0002719	Recurrent infections
9948	WDR1	HP:0002716	Lymphadenopathy
9948	WDR1	HP:0002014	Diarrhea
9948	WDR1	HP:0002110	Bronchiectasis
9948	WDR1	HP:0004854	Intermittent thrombocytopenia
9948	WDR1	HP:0009098	Chronic oral candidiasis
9948	WDR1	HP:0001954	Recurrent fever
9948	WDR1	HP:0031394	Abnormal CD4:CD8 ratio
9948	WDR1	HP:0006532	Recurrent pneumonia
9948	WDR1	HP:0025615	Abscess
9948	WDR1	HP:0011107	Recurrent aphthous stomatitis
9948	WDR1	HP:0001744	Splenomegaly
9948	WDR1	HP:0001875	Neutropenia
9949	AMMECR1	HP:0001182	Tapered finger
9949	AMMECR1	HP:0010864	Intellectual disability, severe
9949	AMMECR1	HP:0001290	Generalized hypotonia
9949	AMMECR1	HP:0100820	Glomerulopathy
9949	AMMECR1	HP:0001252	Hypotonia
9949	AMMECR1	HP:0001249	Intellectual disability
9949	AMMECR1	HP:0000083	Renal insufficiency
9949	AMMECR1	HP:0000093	Proteinuria
9949	AMMECR1	HP:0001382	Joint hypermobility
9949	AMMECR1	HP:0410005	Cleft hard palate
9949	AMMECR1	HP:0000193	Bifid uvula
9949	AMMECR1	HP:0000160	Narrow mouth
9949	AMMECR1	HP:0000176	Submucous cleft hard palate
9949	AMMECR1	HP:0000121	Nephrocalcinosis
9949	AMMECR1	HP:0000110	Renal dysplasia
9949	AMMECR1	HP:0001419	X-linked recessive inheritance
9949	AMMECR1	HP:0002003	Large forehead
9949	AMMECR1	HP:0011800	Midface retrusion
9949	AMMECR1	HP:0002150	Hypercalciuria
9949	AMMECR1	HP:0003593	Infantile onset
9949	AMMECR1	HP:0009836	Broad distal phalanx of finger
9949	AMMECR1	HP:0004209	Clinodactyly of the 5th finger
9949	AMMECR1	HP:0001903	Anemia
9949	AMMECR1	HP:0000684	Delayed eruption of teeth
9949	AMMECR1	HP:0000678	Dental crowding
9949	AMMECR1	HP:0000664	Synophrys
9949	AMMECR1	HP:0004322	Short stature
9949	AMMECR1	HP:0000750	Delayed speech and language development
9949	AMMECR1	HP:0004445	Elliptocytosis
9949	AMMECR1	HP:0003097	Short femur
9949	AMMECR1	HP:0000944	Abnormal metaphysis morphology
9949	AMMECR1	HP:0001595	Abnormal hair morphology
9949	AMMECR1	HP:0000272	Malar flattening
9949	AMMECR1	HP:0000219	Thin upper lip vermilion
9949	AMMECR1	HP:0001561	Polyhydramnios
9949	AMMECR1	HP:0000233	Thin vermilion border
9949	AMMECR1	HP:0011069	Supernumerary tooth
9949	AMMECR1	HP:0012368	Flat face
9949	AMMECR1	HP:0000396	Overfolded helix
9949	AMMECR1	HP:0002907	Microscopic hematuria
9949	AMMECR1	HP:0000365	Hearing impairment
9949	AMMECR1	HP:0000337	Broad forehead
9949	AMMECR1	HP:0000347	Micrognathia
9949	AMMECR1	HP:0001646	Abnormal aortic valve morphology
9949	AMMECR1	HP:0001643	Patent ductus arteriosus
9949	AMMECR1	HP:0001655	Patent foramen ovale
9949	AMMECR1	HP:0006610	Wide intermamillary distance
9949	AMMECR1	HP:0000407	Sensorineural hearing impairment
9949	AMMECR1	HP:0000405	Conductive hearing impairment
9949	AMMECR1	HP:0005280	Depressed nasal bridge
9949	AMMECR1	HP:0000486	Strabismus
9949	AMMECR1	HP:0012471	Thick vermilion border
9949	AMMECR1	HP:0000494	Downslanted palpebral fissures
9949	AMMECR1	HP:0000463	Anteverted nares
9949	AMMECR1	HP:0000470	Short neck
9949	AMMECR1	HP:0001763	Pes planus
9949	AMMECR1	HP:0000410	Mixed hearing impairment
9949	AMMECR1	HP:0001762	Talipes equinovarus
9949	AMMECR1	HP:0000518	Cataract
9949	AMMECR1	HP:0000565	Esotropia
9949	AMMECR1	HP:0001883	Talipes
9949	AMMECR1	HP:0000545	Myopia
9966	TNFSF15	HP:0001278	Orthostatic hypotension
9966	TNFSF15	HP:0001262	Excessive daytime somnolence
9966	TNFSF15	HP:0001399	Hepatic failure
9966	TNFSF15	HP:0001395	Hepatic fibrosis
9966	TNFSF15	HP:0001394	Cirrhosis
9966	TNFSF15	HP:0002613	Biliary cirrhosis
9966	TNFSF15	HP:0002608	Celiac disease
9966	TNFSF15	HP:0012115	Hepatitis
9966	TNFSF15	HP:0001409	Portal hypertension
9966	TNFSF15	HP:0001402	Hepatocellular carcinoma
9966	TNFSF15	HP:0003496	Increased circulating IgM level
9966	TNFSF15	HP:0003493	Antinuclear antibody positivity
9966	TNFSF15	HP:0011971	Dermatographic urticaria
9966	TNFSF15	HP:0002360	Sleep disturbance
9966	TNFSF15	HP:0003073	Hypoalbuminemia
9966	TNFSF15	HP:0004386	Gastrointestinal inflammation
9966	TNFSF15	HP:0003119	Abnormal circulating lipid concentration
9966	TNFSF15	HP:0003155	Elevated circulating alkaline phosphatase concentration
9966	TNFSF15	HP:0000820	Abnormality of the thyroid gland
9966	TNFSF15	HP:0003270	Abdominal distention
9966	TNFSF15	HP:0003261	Increased circulating IgA level
9966	TNFSF15	HP:0000989	Pruritus
9966	TNFSF15	HP:0000953	Hyperpigmentation of the skin
9966	TNFSF15	HP:0000952	Jaundice
9966	TNFSF15	HP:0000939	Osteoporosis
9966	TNFSF15	HP:0012203	Onychomycosis
9966	TNFSF15	HP:0001541	Ascites
9966	TNFSF15	HP:0002841	Recurrent fungal infections
9966	TNFSF15	HP:0012378	Fatigue
9966	TNFSF15	HP:0011040	Abnormal intrahepatic bile duct morphology
9966	TNFSF15	HP:0002908	Conjugated hyperbilirubinemia
9966	TNFSF15	HP:0002960	Autoimmunity
9968	MED12	HP:0001172	Abnormal thumb morphology
9968	MED12	HP:0001171	Split hand
9968	MED12	HP:0001187	Hyperextensibility of the finger joints
9968	MED12	HP:0001156	Brachydactyly
9968	MED12	HP:0001166	Arachnodactyly
9968	MED12	HP:0001159	Syndactyly
9968	MED12	HP:0009928	Thick nasal alae
9968	MED12	HP:0020206	Simple ear
9968	MED12	HP:0009890	High anterior hairline
9968	MED12	HP:0008551	Microtia
9968	MED12	HP:0008544	Abnormally folded helix
9968	MED12	HP:0001290	Generalized hypotonia
9968	MED12	HP:0001274	Agenesis of corpus callosum
9968	MED12	HP:0001270	Motor delay
9968	MED12	HP:0001250	Seizure
9968	MED12	HP:0001252	Hypotonia
9968	MED12	HP:0001249	Intellectual disability
9968	MED12	HP:0001263	Global developmental delay
9968	MED12	HP:0001257	Spasticity
9968	MED12	HP:0002566	Intestinal malrotation
9968	MED12	HP:0006101	Finger syndactyly
9968	MED12	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9968	MED12	HP:0031082	Impaired growth-hormone response to glucagon stimulation test
9968	MED12	HP:0001212	Prominent fingertip pads
9968	MED12	HP:0000083	Renal insufficiency
9968	MED12	HP:0000098	Tall stature
9968	MED12	HP:0001396	Cholestasis
9968	MED12	HP:0001399	Hepatic failure
9968	MED12	HP:0001395	Hepatic fibrosis
9968	MED12	HP:0001394	Cirrhosis
9968	MED12	HP:0000076	Vesicoureteral reflux
9968	MED12	HP:0000072	Hydroureter
9968	MED12	HP:0000046	Small scrotum
9968	MED12	HP:0001371	Flexion contracture
9968	MED12	HP:0000054	Micropenis
9968	MED12	HP:0001385	Hip dysplasia
9968	MED12	HP:0001388	Joint laxity
9968	MED12	HP:0001382	Joint hypermobility
9968	MED12	HP:0000053	Macroorchidism
9968	MED12	HP:0000047	Hypospadias
9968	MED12	HP:0000049	Shawl scrotum
9968	MED12	HP:0000023	Inguinal hernia
9968	MED12	HP:0001363	Craniosynostosis
9968	MED12	HP:0001357	Plagiocephaly
9968	MED12	HP:0000028	Cryptorchidism
9968	MED12	HP:0000010	Recurrent urinary tract infections
9968	MED12	HP:0001344	Absent speech
9968	MED12	HP:0001338	Partial agenesis of the corpus callosum
9968	MED12	HP:0002650	Scoliosis
9968	MED12	HP:0001317	Abnormal cerebellum morphology
9968	MED12	HP:0001319	Neonatal hypotonia
9968	MED12	HP:0002608	Celiac disease
9968	MED12	HP:0000189	Narrow palate
9968	MED12	HP:0000185	Cleft soft palate
9968	MED12	HP:0000179	Thick lower lip vermilion
9968	MED12	HP:0000194	Open mouth
9968	MED12	HP:0000164	Abnormality of the dentition
9968	MED12	HP:0000160	Narrow mouth
9968	MED12	HP:0000175	Cleft palate
9968	MED12	HP:0001476	Delayed closure of the anterior fontanelle
9968	MED12	HP:0000154	Wide mouth
9968	MED12	HP:0007678	Lacrimal duct stenosis
9968	MED12	HP:0008947	Infantile muscular hypotonia
9968	MED12	HP:0008935	Generalized neonatal hypotonia
9968	MED12	HP:0032524	Long thumb
9968	MED12	HP:0000126	Hydronephrosis
9968	MED12	HP:0002761	Generalized joint laxity
9968	MED12	HP:0001423	X-linked dominant inheritance
9968	MED12	HP:0001433	Hepatosplenomegaly
9968	MED12	HP:0001410	Decreased liver function
9968	MED12	HP:0001409	Portal hypertension
9968	MED12	HP:0001408	Bile duct proliferation
9968	MED12	HP:0001419	X-linked recessive inheritance
9968	MED12	HP:0002744	Bilateral cleft lip and palate
9968	MED12	HP:0002025	Anal stenosis
9968	MED12	HP:0002023	Anal atresia
9968	MED12	HP:0002021	Pyloric stenosis
9968	MED12	HP:0002020	Gastroesophageal reflux
9968	MED12	HP:0002019	Constipation
9968	MED12	HP:0002036	Hiatus hernia
9968	MED12	HP:0002027	Abdominal pain
9968	MED12	HP:0002002	Deep philtrum
9968	MED12	HP:0002013	Vomiting
9968	MED12	HP:0002007	Frontal bossing
9968	MED12	HP:0033196	Portal inflammation
9968	MED12	HP:0002092	Pulmonary arterial hypertension
9968	MED12	HP:0002040	Esophageal varix
9968	MED12	HP:0009466	Radial deviation of finger
9968	MED12	HP:0033149	Intrahepatic bile duct dilatation
9968	MED12	HP:0009487	Ulnar deviation of the hand
9968	MED12	HP:0009473	Joint contracture of the hand
9968	MED12	HP:0004785	Malrotation of colon
9968	MED12	HP:0002119	Ventriculomegaly
9968	MED12	HP:0002136	Broad-based gait
9968	MED12	HP:0010609	Skin tags
9968	MED12	HP:0002167	Abnormality of speech or vocalization
9968	MED12	HP:0100490	Camptodactyly of finger
9968	MED12	HP:0003593	Infantile onset
9968	MED12	HP:0002240	Hepatomegaly
9968	MED12	HP:0002236	Frontal upsweep of hair
9968	MED12	HP:0002250	Abnormal large intestine morphology
9968	MED12	HP:0002248	Hematemesis
9968	MED12	HP:0002213	Fine hair
9968	MED12	HP:0002282	Gray matter heterotopia
9968	MED12	HP:0100753	Schizophrenia
9968	MED12	HP:0007018	Attention deficit hyperactivity disorder
9968	MED12	HP:0011968	Feeding difficulties
9968	MED12	HP:0002342	Intellectual disability, moderate
9968	MED12	HP:0002321	Vertigo
9968	MED12	HP:0010773	Partial anomalous pulmonary venous return
9968	MED12	HP:0009778	Short thumb
9968	MED12	HP:0009762	Facial wrinkling
9968	MED12	HP:0004970	Ascending tubular aorta aneurysm
9968	MED12	HP:0002307	Drooling
9968	MED12	HP:0001971	Hypersplenism
9968	MED12	HP:0000639	Nystagmus
9968	MED12	HP:0000609	Optic nerve hypoplasia
9968	MED12	HP:0010055	Broad hallux
9968	MED12	HP:0000678	Dental crowding
9968	MED12	HP:0000691	Microdontia
9968	MED12	HP:0000687	Widely spaced teeth
9968	MED12	HP:0011304	Broad thumb
9968	MED12	HP:0004325	Decreased body weight
9968	MED12	HP:0004322	Short stature
9968	MED12	HP:0005692	Joint hyperflexibility
9968	MED12	HP:0000752	Hyperactivity
9968	MED12	HP:0000767	Pectus excavatum
9968	MED12	HP:0000766	Abnormal sternum morphology
9968	MED12	HP:0000738	Hallucinations
9968	MED12	HP:0000737	Irritability
9968	MED12	HP:0000735	Impaired social interactions
9968	MED12	HP:0000750	Delayed speech and language development
9968	MED12	HP:0012712	Mild hearing impairment
9968	MED12	HP:0000744	Low frustration tolerance
9968	MED12	HP:0000718	Aggressive behavior
9968	MED12	HP:0000717	Autism
9968	MED12	HP:0000712	Emotional lability
9968	MED12	HP:0000722	Compulsive behaviors
9968	MED12	HP:0000709	Psychosis
9968	MED12	HP:0000708	Atypical behavior
9968	MED12	HP:0000774	Narrow chest
9968	MED12	HP:0004415	Pulmonary artery stenosis
9968	MED12	HP:0003189	Long nose
9968	MED12	HP:0004482	Relative macrocephaly
9968	MED12	HP:0004492	Widely patent fontanelles and sutures
9968	MED12	HP:0004467	Preauricular pit
9968	MED12	HP:0100333	Unilateral cleft lip
9968	MED12	HP:0100334	Unilateral cleft palate
9968	MED12	HP:0000822	Hypertension
9968	MED12	HP:0040022	Clinodactyly of the 2nd finger
9968	MED12	HP:0005876	Progressive flexion contractures
9968	MED12	HP:0005852	Limited elbow extension and supination
9968	MED12	HP:0045075	Sparse eyebrow
9968	MED12	HP:0000989	Pruritus
9968	MED12	HP:0000957	Cafe-au-lait spot
9968	MED12	HP:0000954	Single transverse palmar crease
9968	MED12	HP:0000952	Jaundice
9968	MED12	HP:0000960	Sacral dimple
9968	MED12	HP:0000939	Osteoporosis
9968	MED12	HP:0008070	Sparse hair
9968	MED12	HP:0000286	Epicanthus
9968	MED12	HP:0000280	Coarse facial features
9968	MED12	HP:0000260	Wide anterior fontanel
9968	MED12	HP:0000256	Macrocephaly
9968	MED12	HP:0000275	Narrow face
9968	MED12	HP:0000276	Long face
9968	MED12	HP:0000272	Malar flattening
9968	MED12	HP:0000269	Prominent occiput
9968	MED12	HP:0002828	Multiple joint contractures
9968	MED12	HP:0030084	Clinodactyly
9968	MED12	HP:0000238	Hydrocephalus
9968	MED12	HP:0000248	Brachycephaly
9968	MED12	HP:0000219	Thin upper lip vermilion
9968	MED12	HP:0000218	High palate
9968	MED12	HP:0001545	Anteriorly placed anus
9968	MED12	HP:0000233	Thin vermilion border
9968	MED12	HP:0001537	Umbilical hernia
9968	MED12	HP:0001533	Slender build
9968	MED12	HP:0000204	Cleft upper lip
9968	MED12	HP:0001508	Failure to thrive
9968	MED12	HP:0002836	Bladder exstrophy
9968	MED12	HP:0001519	Disproportionate tall stature
9968	MED12	HP:0001510	Growth delay
9968	MED12	HP:0011090	Fused teeth
9968	MED12	HP:0012385	Camptodactyly
9968	MED12	HP:0000378	Cupped ear
9968	MED12	HP:0006579	Prolonged neonatal jaundice
9968	MED12	HP:0005209	Intrahepatic bile duct cysts
9968	MED12	HP:0001608	Abnormality of the voice
9968	MED12	HP:0002938	Lumbar hyperlordosis
9968	MED12	HP:0002944	Thoracolumbar scoliosis
9968	MED12	HP:0001611	Hypernasal speech
9968	MED12	HP:0002910	Elevated hepatic transaminase
9968	MED12	HP:0002904	Hyperbilirubinemia
9968	MED12	HP:0000365	Hearing impairment
9968	MED12	HP:0000358	Posteriorly rotated ears
9968	MED12	HP:0000369	Low-set ears
9968	MED12	HP:0000343	Long philtrum
9968	MED12	HP:0012330	Pyelonephritis
9968	MED12	HP:0001680	Coarctation of aorta
9968	MED12	HP:0000348	High forehead
9968	MED12	HP:0000347	Micrognathia
9968	MED12	HP:0000319	Smooth philtrum
9968	MED12	HP:0000316	Hypertelorism
9968	MED12	HP:0001643	Patent ductus arteriosus
9968	MED12	HP:0000331	Short chin
9968	MED12	HP:0000327	Hypoplasia of the maxilla
9968	MED12	HP:0030151	Cholangitis
9968	MED12	HP:0000322	Short philtrum
9968	MED12	HP:0000325	Triangular face
9968	MED12	HP:0001655	Patent foramen ovale
9968	MED12	HP:0001629	Ventricular septal defect
9968	MED12	HP:0001627	Abnormal heart morphology
9968	MED12	HP:0001620	High pitched voice
9968	MED12	HP:0001622	Premature birth
9968	MED12	HP:0030169	Gastric varix
9968	MED12	HP:0001631	Atrial septal defect
9968	MED12	HP:0001634	Mitral valve prolapse
9968	MED12	HP:0005343	Hypoplasia of the bladder
9968	MED12	HP:0000407	Sensorineural hearing impairment
9968	MED12	HP:0000402	Stenosis of the external auditory canal
9968	MED12	HP:0005280	Depressed nasal bridge
9968	MED12	HP:0000486	Strabismus
9968	MED12	HP:0012471	Thick vermilion border
9968	MED12	HP:0000494	Downslanted palpebral fissures
9968	MED12	HP:0000460	Narrow nose
9968	MED12	HP:0001788	Premature rupture of membranes
9968	MED12	HP:0000475	Broad neck
9968	MED12	HP:0000470	Short neck
9968	MED12	HP:0012433	Abnormal social behavior
9968	MED12	HP:0001763	Pes planus
9968	MED12	HP:0000453	Choanal atresia
9968	MED12	HP:0000448	Prominent nose
9968	MED12	HP:0000446	Narrow nasal bridge
9968	MED12	HP:0000414	Bulbous nose
9968	MED12	HP:0000411	Protruding ear
9968	MED12	HP:0001744	Splenomegaly
9968	MED12	HP:0000431	Wide nasal bridge
9968	MED12	HP:0000426	Prominent nasal bridge
9968	MED12	HP:0031766	Convergence excess esotropia
9968	MED12	HP:0005490	Postnatal macrocephaly
9968	MED12	HP:0012506	Small pituitary gland
9968	MED12	HP:0001845	Overlapping toe
9968	MED12	HP:0001837	Broad toe
9968	MED12	HP:0000508	Ptosis
9968	MED12	HP:0011266	Microtia, first degree
9968	MED12	HP:0000581	Blepharophimosis
9968	MED12	HP:0030353	Decreased serum insulin-like growth factor 1
9968	MED12	HP:0000580	Pigmentary retinopathy
9968	MED12	HP:0011220	Prominent forehead
9968	MED12	HP:0000568	Microphthalmia
9968	MED12	HP:0000540	Hypermetropia
9968	MED12	HP:0001873	Thrombocytopenia
9969	MED13	HP:0009921	Duane anomaly
9969	MED13	HP:0001252	Hypotonia
9969	MED13	HP:0001263	Global developmental delay
9969	MED13	HP:0000006	Autosomal dominant inheritance
9969	MED13	HP:0000154	Wide mouth
9969	MED13	HP:0002194	Delayed gross motor development
9969	MED13	HP:0007018	Attention deficit hyperactivity disorder
9969	MED13	HP:0000629	Periorbital fullness
9969	MED13	HP:0000664	Synophrys
9969	MED13	HP:0000750	Delayed speech and language development
9969	MED13	HP:0000729	Autistic behavior
9969	MED13	HP:0045025	Narrow palpebral fissure
9969	MED13	HP:0000219	Thin upper lip vermilion
9969	MED13	HP:0011098	Speech apraxia
9969	MED13	HP:0000319	Smooth philtrum
9969	MED13	HP:0000316	Hypertelorism
9969	MED13	HP:0011170	Generalized myoclonic-atonic seizure
9969	MED13	HP:0012450	Chronic constipation
9969	MED13	HP:0000431	Wide nasal bridge
9969	MED13	HP:0000426	Prominent nasal bridge
9971	NR1H4	HP:0001399	Hepatic failure
9971	NR1H4	HP:0001394	Cirrhosis
9971	NR1H4	HP:0000007	Autosomal recessive inheritance
9971	NR1H4	HP:0001337	Tremor
9971	NR1H4	HP:0002643	Neonatal respiratory distress
9971	NR1H4	HP:0012164	Asterixis
9971	NR1H4	HP:0006254	Elevated circulating alpha-fetoprotein concentration
9971	NR1H4	HP:0031248	Palmar pruritus
9971	NR1H4	HP:0002027	Abdominal pain
9971	NR1H4	HP:0030900	Pruritus on foot
9971	NR1H4	HP:0008151	Prolonged prothrombin time
9971	NR1H4	HP:0003593	Infantile onset
9971	NR1H4	HP:0003577	Congenital onset
9971	NR1H4	HP:0002202	Pleural effusion
9971	NR1H4	HP:0100785	Insomnia
9971	NR1H4	HP:0003678	Rapidly progressive
9971	NR1H4	HP:0100602	Preeclampsia
9971	NR1H4	HP:0025031	Abnormality of the digestive system
9971	NR1H4	HP:0001082	Cholecystitis
9971	NR1H4	HP:0003623	Neonatal onset
9971	NR1H4	HP:0001943	Hypoglycemia
9971	NR1H4	HP:0012689	Abnormal pineal melatonin secretion
9971	NR1H4	HP:0001987	Hyperammonemia
9971	NR1H4	HP:0031956	Elevated circulating aspartate aminotransferase concentration
9971	NR1H4	HP:0031964	Elevated circulating alanine aminotransferase concentration
9971	NR1H4	HP:0000716	Depression
9971	NR1H4	HP:0030782	Abnormal circulating interleukin concentration
9971	NR1H4	HP:0003155	Elevated circulating alkaline phosphatase concentration
9971	NR1H4	HP:0000821	Hypothyroidism
9971	NR1H4	HP:0000989	Pruritus
9971	NR1H4	HP:0000988	Skin rash
9971	NR1H4	HP:0000952	Jaundice
9971	NR1H4	HP:0012202	Increased serum bile acid concentration
9971	NR1H4	HP:0001522	Death in infancy
9971	NR1H4	HP:0001541	Ascites
9971	NR1H4	HP:0001508	Failure to thrive
9971	NR1H4	HP:0001518	Small for gestational age
9971	NR1H4	HP:0002910	Elevated hepatic transaminase
9971	NR1H4	HP:0002908	Conjugated hyperbilirubinemia
9971	NR1H4	HP:0002904	Hyperbilirubinemia
9971	NR1H4	HP:0002960	Autoimmunity
9971	NR1H4	HP:0001622	Premature birth
9971	NR1H4	HP:0001732	Abnormality of the pancreas
9971	NR1H4	HP:0001790	Nonimmune hydrops fetalis
9971	NR1H4	HP:0012420	Meconium stained amniotic fluid
9987	HNRNPDL	HP:0003749	Pelvic girdle muscle weakness
9987	HNRNPDL	HP:0001265	Hyporeflexia
9987	HNRNPDL	HP:0003829	Typified by incomplete penetrance
9987	HNRNPDL	HP:0003805	Rimmed vacuoles
9987	HNRNPDL	HP:0006203	Decreased movement range in interphalangeal joints
9987	HNRNPDL	HP:0000006	Autosomal dominant inheritance
9987	HNRNPDL	HP:0008948	Proximal upper limb amyotrophy
9987	HNRNPDL	HP:0008956	Proximal lower limb amyotrophy
9987	HNRNPDL	HP:0008116	Flexion limitation of toes
9987	HNRNPDL	HP:0003581	Adult onset
9987	HNRNPDL	HP:0003547	Shoulder girdle muscle weakness
9987	HNRNPDL	HP:0003677	Slowly progressive
9987	HNRNPDL	HP:0003198	Myopathy
9987	HNRNPDL	HP:0003236	Elevated circulating creatine kinase concentration
9987	HNRNPDL	HP:0006785	Limb-girdle muscular dystrophy
9987	HNRNPDL	HP:0000518	Cataract
9990	SLC12A6	HP:0001182	Tapered finger
9990	SLC12A6	HP:0002410	Aqueductal stenosis
9990	SLC12A6	HP:0100807	Long fingers
9990	SLC12A6	HP:0001271	Polyneuropathy
9990	SLC12A6	HP:0001274	Agenesis of corpus callosum
9990	SLC12A6	HP:0001270	Motor delay
9990	SLC12A6	HP:0001284	Areflexia
9990	SLC12A6	HP:0001256	Intellectual disability, mild
9990	SLC12A6	HP:0001250	Seizure
9990	SLC12A6	HP:0001252	Hypotonia
9990	SLC12A6	HP:0001249	Intellectual disability
9990	SLC12A6	HP:0001263	Global developmental delay
9990	SLC12A6	HP:0001257	Spasticity
9990	SLC12A6	HP:0007340	Lower limb muscle weakness
9990	SLC12A6	HP:0002540	Inability to walk
9990	SLC12A6	HP:0001371	Flexion contracture
9990	SLC12A6	HP:0001349	Facial diplegia
9990	SLC12A6	HP:0001363	Craniosynostosis
9990	SLC12A6	HP:0001324	Muscle weakness
9990	SLC12A6	HP:0001344	Absent speech
9990	SLC12A6	HP:0000007	Autosomal recessive inheritance
9990	SLC12A6	HP:0001337	Tremor
9990	SLC12A6	HP:0000006	Autosomal dominant inheritance
9990	SLC12A6	HP:0002650	Scoliosis
9990	SLC12A6	HP:0001319	Neonatal hypotonia
9990	SLC12A6	HP:0008997	Proximal muscle weakness in upper limbs
9990	SLC12A6	HP:0008954	Intrinsic hand muscle atrophy
9990	SLC12A6	HP:0008944	Distal lower limb amyotrophy
9990	SLC12A6	HP:0004691	2-3 toe syndactyly
9990	SLC12A6	HP:0002091	Restrictive ventilatory defect
9990	SLC12A6	HP:0003378	Axonal degeneration/regeneration
9990	SLC12A6	HP:0003383	Onion bulb formation
9990	SLC12A6	HP:0003477	Peripheral axonal neuropathy
9990	SLC12A6	HP:0002119	Ventriculomegaly
9990	SLC12A6	HP:0003448	Decreased sensory nerve conduction velocity
9990	SLC12A6	HP:0003447	Axonal loss
9990	SLC12A6	HP:0003431	Decreased motor nerve conduction velocity
9990	SLC12A6	HP:0003444	EMG: chronic denervation signs
9990	SLC12A6	HP:0003593	Infantile onset
9990	SLC12A6	HP:0200085	Limb tremor
9990	SLC12A6	HP:0007002	Motor axonal neuropathy
9990	SLC12A6	HP:0011968	Feeding difficulties
9990	SLC12A6	HP:0011947	Respiratory tract infection
9990	SLC12A6	HP:0003690	Limb muscle weakness
9990	SLC12A6	HP:0002359	Frequent falls
9990	SLC12A6	HP:0003676	Progressive
9990	SLC12A6	HP:0002353	EEG abnormality
9990	SLC12A6	HP:0007204	Diffuse white matter abnormalities
9990	SLC12A6	HP:0009830	Peripheral neuropathy
9990	SLC12A6	HP:0007149	Distal upper limb amyotrophy
9990	SLC12A6	HP:0007126	Proximal amyotrophy
9990	SLC12A6	HP:0007108	Demyelinating peripheral neuropathy
9990	SLC12A6	HP:0003623	Neonatal onset
9990	SLC12A6	HP:0007178	Motor polyneuropathy
9990	SLC12A6	HP:0000639	Nystagmus
9990	SLC12A6	HP:0009053	Distal lower limb muscle weakness
9990	SLC12A6	HP:0009027	Foot dorsiflexor weakness
9990	SLC12A6	HP:0006944	Abolished vibration sense
9990	SLC12A6	HP:0004374	Hemiplegia/hemiparesis
9990	SLC12A6	HP:0000763	Sensory neuropathy
9990	SLC12A6	HP:0000762	Decreased nerve conduction velocity
9990	SLC12A6	HP:0000709	Psychosis
9990	SLC12A6	HP:0011463	Childhood onset
9990	SLC12A6	HP:0003196	Short nose
9990	SLC12A6	HP:0040081	Abnormal circulating creatine kinase concentration
9990	SLC12A6	HP:0003202	Skeletal muscle atrophy
9990	SLC12A6	HP:0100297	Increased endomysial connective tissue
9990	SLC12A6	HP:0007703	Abnormality of retinal pigmentation
9990	SLC12A6	HP:0000294	Low anterior hairline
9990	SLC12A6	HP:0000262	Turricephaly
9990	SLC12A6	HP:0000276	Long face
9990	SLC12A6	HP:0000252	Microcephaly
9990	SLC12A6	HP:0000248	Brachycephaly
9990	SLC12A6	HP:0000218	High palate
9990	SLC12A6	HP:0002922	Increased CSF protein concentration
9990	SLC12A6	HP:0000341	Narrow forehead
9990	SLC12A6	HP:0000316	Hypertelorism
9990	SLC12A6	HP:0000327	Hypoplasia of the maxilla
9990	SLC12A6	HP:0000324	Facial asymmetry
9990	SLC12A6	HP:0011182	Interictal epileptiform activity
9990	SLC12A6	HP:0000400	Macrotia
9990	SLC12A6	HP:0000486	Strabismus
9990	SLC12A6	HP:0001771	Achilles tendon contracture
9990	SLC12A6	HP:0000431	Wide nasal bridge
9990	SLC12A6	HP:0000508	Ptosis
9990	SLC12A6	HP:0000565	Esotropia
9990	SLC12A6	HP:0000545	Myopia
9992	KCNE2	HP:0001197	Abnormality of prenatal development or birth
9992	KCNE2	HP:0001279	Syncope
9992	KCNE2	HP:0001250	Seizure
9992	KCNE2	HP:0000006	Autosomal dominant inheritance
9992	KCNE2	HP:0500018	Abnormal cardiac exercise stress test
9992	KCNE2	HP:0004757	Paroxysmal atrial fibrillation
9992	KCNE2	HP:0004754	Permanent atrial fibrillation
9992	KCNE2	HP:0003596	Middle age onset
9992	KCNE2	HP:0003584	Late onset
9992	KCNE2	HP:0003581	Adult onset
9992	KCNE2	HP:0001962	Palpitations
9992	KCNE2	HP:0004308	Ventricular arrhythmia
9992	KCNE2	HP:0005135	Abnormal T-wave
9992	KCNE2	HP:0005110	Atrial fibrillation
9992	KCNE2	HP:0005184	Prolonged QTc interval
9992	KCNE2	HP:0002900	Hypokalemia
9992	KCNE2	HP:0000365	Hearing impairment
9992	KCNE2	HP:0001695	Cardiac arrest
9992	KCNE2	HP:0001688	Sinus bradycardia
9992	KCNE2	HP:0012332	Abnormal autonomic nervous system physiology
9992	KCNE2	HP:0001664	Torsade de pointes
9992	KCNE2	HP:0001645	Sudden cardiac death
9992	KCNE2	HP:0001663	Ventricular fibrillation
9992	KCNE2	HP:0001657	Prolonged QT interval
9992	KCNE2	HP:0006699	Premature atrial contractions
9993	DGCR2	HP:0001155	Abnormality of the hand
9993	DGCR2	HP:0001252	Hypotonia
9993	DGCR2	HP:0001249	Intellectual disability
9993	DGCR2	HP:0000023	Inguinal hernia
9993	DGCR2	HP:0000028	Cryptorchidism
9993	DGCR2	HP:0001328	Specific learning disability
9993	DGCR2	HP:0000006	Autosomal dominant inheritance
9993	DGCR2	HP:0002627	Right aortic arch with mirror image branching
9993	DGCR2	HP:0000194	Open mouth
9993	DGCR2	HP:0000176	Submucous cleft hard palate
9993	DGCR2	HP:0000175	Cleft palate
9993	DGCR2	HP:0002719	Recurrent infections
9993	DGCR2	HP:0011999	Paranoia
9993	DGCR2	HP:0004935	Pulmonary artery atresia
9993	DGCR2	HP:0000627	Posterior embryotoxon
9993	DGCR2	HP:0004322	Short stature
9993	DGCR2	HP:0000718	Aggressive behavior
9993	DGCR2	HP:0000712	Emotional lability
9993	DGCR2	HP:0012841	Retinal vascular tortuosity
9993	DGCR2	HP:0000829	Hypoparathyroidism
9993	DGCR2	HP:0011590	Double aortic arch
9993	DGCR2	HP:0011611	Interrupted aortic arch
9993	DGCR2	HP:0045025	Narrow palpebral fissure
9993	DGCR2	HP:0000278	Retrognathia
9993	DGCR2	HP:0000252	Microcephaly
9993	DGCR2	HP:0000220	Velopharyngeal insufficiency
9993	DGCR2	HP:0001537	Umbilical hernia
9993	DGCR2	HP:0000201	Pierre-Robin sequence
9993	DGCR2	HP:0006549	Unilateral primary pulmonary dysgenesis
9993	DGCR2	HP:0002901	Hypocalcemia
9993	DGCR2	HP:0001629	Ventricular septal defect
9993	DGCR2	HP:0001636	Tetralogy of Fallot
9993	DGCR2	HP:0000414	Bulbous nose
9993	DGCR2	HP:0000430	Underdeveloped nasal alae
9993	DGCR2	HP:0005435	Impaired T cell function
9993	DGCR2	HP:0000598	Abnormality of the ear
9993	DGCR2	HP:0000581	Blepharophimosis
9993	DGCR2	HP:0001883	Talipes
9997	SCO2	HP:0002490	Increased CSF lactate
9997	SCO2	HP:0002453	Abnormal globus pallidus morphology
9997	SCO2	HP:0002451	Limb dystonia
9997	SCO2	HP:0002415	Leukodystrophy
9997	SCO2	HP:0001276	Hypertonia
9997	SCO2	HP:0001272	Cerebellar atrophy
9997	SCO2	HP:0001270	Motor delay
9997	SCO2	HP:0001268	Mental deterioration
9997	SCO2	HP:0001284	Areflexia
9997	SCO2	HP:0001254	Lethargy
9997	SCO2	HP:0001250	Seizure
9997	SCO2	HP:0001252	Hypotonia
9997	SCO2	HP:0001251	Ataxia
9997	SCO2	HP:0001249	Intellectual disability
9997	SCO2	HP:0001260	Dysarthria
9997	SCO2	HP:0001263	Global developmental delay
9997	SCO2	HP:0001257	Spasticity
9997	SCO2	HP:0007340	Lower limb muscle weakness
9997	SCO2	HP:0002538	Abnormal cerebral cortex morphology
9997	SCO2	HP:0002529	Neuronal loss in central nervous system
9997	SCO2	HP:0000091	Abnormal renal tubule morphology
9997	SCO2	HP:0001349	Facial diplegia
9997	SCO2	HP:0001332	Dystonia
9997	SCO2	HP:0001324	Muscle weakness
9997	SCO2	HP:0000007	Autosomal recessive inheritance
9997	SCO2	HP:0000006	Autosomal dominant inheritance
9997	SCO2	HP:0012195	Irregular respiration
9997	SCO2	HP:0001488	Bilateral ptosis
9997	SCO2	HP:0008947	Infantile muscular hypotonia
9997	SCO2	HP:0000110	Renal dysplasia
9997	SCO2	HP:0000104	Renal agenesis
9997	SCO2	HP:0001410	Decreased liver function
9997	SCO2	HP:0002033	Poor suck
9997	SCO2	HP:0002015	Dysphagia
9997	SCO2	HP:0002086	Abnormality of the respiratory system
9997	SCO2	HP:0002098	Respiratory distress
9997	SCO2	HP:0002072	Chorea
9997	SCO2	HP:0003376	Steppage gait
9997	SCO2	HP:0002059	Cerebral atrophy
9997	SCO2	HP:0002151	Increased serum lactate
9997	SCO2	HP:0002119	Ventriculomegaly
9997	SCO2	HP:0003444	EMG: chronic denervation signs
9997	SCO2	HP:0002104	Apnea
9997	SCO2	HP:0002166	Impaired vibration sensation in the lower limbs
9997	SCO2	HP:0002171	Gliosis
9997	SCO2	HP:0003593	Infantile onset
9997	SCO2	HP:0002240	Hepatomegaly
9997	SCO2	HP:0003557	Increased variability in muscle fiber diameter
9997	SCO2	HP:0003542	Increased serum pyruvate
9997	SCO2	HP:0200147	Neuronal loss in basal ganglia
9997	SCO2	HP:0002283	Global brain atrophy
9997	SCO2	HP:0010663	Abnormality of thalamus morphology
9997	SCO2	HP:0008347	Decreased activity of mitochondrial complex IV
9997	SCO2	HP:0011968	Feeding difficulties
9997	SCO2	HP:0032046	Focal cortical dysplasia
9997	SCO2	HP:0002380	Fasciculations
9997	SCO2	HP:0002363	Abnormal brainstem morphology
9997	SCO2	HP:0002359	Frequent falls
9997	SCO2	HP:0002376	Developmental regression
9997	SCO2	HP:0002339	Abnormal caudate nucleus morphology
9997	SCO2	HP:0007204	Diffuse white matter abnormalities
9997	SCO2	HP:0010836	Abnormal circulating copper concentration
9997	SCO2	HP:0100660	Dyskinesia
9997	SCO2	HP:0009830	Peripheral neuropathy
9997	SCO2	HP:0025045	Abnormal brain lactate level by MRS
9997	SCO2	HP:0007159	Fluctuations in consciousness
9997	SCO2	HP:0007141	Sensorimotor neuropathy
9997	SCO2	HP:0007110	Central hypoventilation
9997	SCO2	HP:0003623	Neonatal onset
9997	SCO2	HP:0002312	Clumsiness
9997	SCO2	HP:0007178	Motor polyneuropathy
9997	SCO2	HP:0000639	Nystagmus
9997	SCO2	HP:0000648	Optic atrophy
9997	SCO2	HP:0001947	Renal tubular acidosis
9997	SCO2	HP:0000602	Ophthalmoplegia
9997	SCO2	HP:0001903	Anemia
9997	SCO2	HP:0009055	Generalized limb muscle atrophy
9997	SCO2	HP:0009027	Foot dorsiflexor weakness
9997	SCO2	HP:0004305	Involuntary movements
9997	SCO2	HP:0006999	Basal ganglia gliosis
9997	SCO2	HP:0012707	Elevated brain lactate level by MRS
9997	SCO2	HP:0012758	Neurodevelopmental delay
9997	SCO2	HP:0003198	Myopathy
9997	SCO2	HP:0003128	Lactic acidosis
9997	SCO2	HP:0040081	Abnormal circulating creatine kinase concentration
9997	SCO2	HP:0000998	Hypertrichosis
9997	SCO2	HP:0000268	Dolichocephaly
9997	SCO2	HP:0030085	Abnormal CSF lactate concentration
9997	SCO2	HP:0031318	Myofiber disarray
9997	SCO2	HP:0032653	Elevated lactate:pyruvate ratio
9997	SCO2	HP:0002878	Respiratory failure
9997	SCO2	HP:0000218	High palate
9997	SCO2	HP:0001522	Death in infancy
9997	SCO2	HP:0001508	Failure to thrive
9997	SCO2	HP:0000365	Hearing impairment
9997	SCO2	HP:0001695	Cardiac arrest
9997	SCO2	HP:0011003	High myopia
9997	SCO2	HP:0001642	Pulmonic stenosis
9997	SCO2	HP:0001644	Dilated cardiomyopathy
9997	SCO2	HP:0001653	Mitral regurgitation
9997	SCO2	HP:0001626	Abnormality of the cardiovascular system
9997	SCO2	HP:0001639	Hypertrophic cardiomyopathy
9997	SCO2	HP:0001635	Congestive heart failure
9997	SCO2	HP:0001638	Cardiomyopathy
9997	SCO2	HP:0007941	Limited extraocular movements
9997	SCO2	HP:0005348	Inspiratory stridor
9997	SCO2	HP:0005280	Depressed nasal bridge
9997	SCO2	HP:0031546	Cardiac conduction abnormality
9997	SCO2	HP:0000496	Abnormality of eye movement
9997	SCO2	HP:0000488	Retinopathy
9997	SCO2	HP:0012444	Brain atrophy
9997	SCO2	HP:0001763	Pes planus
9997	SCO2	HP:0000508	Ptosis
9997	SCO2	HP:0000505	Visual impairment
9997	SCO2	HP:0001800	Hypoplastic toenails
9997	SCO2	HP:0000577	Exotropia
9997	SCO2	HP:0000570	Abnormal saccadic eye movements
10000	AKT3	HP:0001162	Postaxial hand polydactyly
10000	AKT3	HP:0010864	Intellectual disability, severe
10000	AKT3	HP:0010851	EEG with burst suppression
10000	AKT3	HP:0001269	Hemiparesis
10000	AKT3	HP:0001250	Seizure
10000	AKT3	HP:0001249	Intellectual disability
10000	AKT3	HP:0001263	Global developmental delay
10000	AKT3	HP:0025373	Interictal EEG abnormality
10000	AKT3	HP:0001355	Megalencephaly
10000	AKT3	HP:0000006	Autosomal dominant inheritance
10000	AKT3	HP:0001336	Myoclonus
10000	AKT3	HP:0001302	Pachygyria
10000	AKT3	HP:0000160	Narrow mouth
10000	AKT3	HP:0100542	Abnormal localization of kidney
10000	AKT3	HP:0002079	Hypoplasia of the corpus callosum
10000	AKT3	HP:0002119	Ventriculomegaly
10000	AKT3	HP:0002133	Status epilepticus
10000	AKT3	HP:0002126	Polymicrogyria
10000	AKT3	HP:0002171	Gliosis
10000	AKT3	HP:0002282	Gray matter heterotopia
10000	AKT3	HP:0032046	Focal cortical dysplasia
10000	AKT3	HP:0002392	EEG with polyspike wave complexes
10000	AKT3	HP:0007206	Hemimegalencephaly
10000	AKT3	HP:0010819	Atonic seizure
10000	AKT3	HP:0006824	Cranial nerve paralysis
10000	AKT3	HP:0000648	Optic atrophy
10000	AKT3	HP:0004302	Functional motor deficit
10000	AKT3	HP:0012757	Abnormal neuron morphology
10000	AKT3	HP:0000929	Abnormal skull morphology
10000	AKT3	HP:0030890	Hyperintensity of cerebral white matter on MRI
10000	AKT3	HP:0000974	Hyperextensible skin
10000	AKT3	HP:0000965	Cutis marmorata
10000	AKT3	HP:0012246	Oculomotor nerve palsy
10000	AKT3	HP:0000256	Macrocephaly
10000	AKT3	HP:0000267	Cranial asymmetry
10000	AKT3	HP:0005105	Abnormal nasal morphology
10000	AKT3	HP:0000238	Hydrocephalus
10000	AKT3	HP:0011097	Epileptic spasm
10000	AKT3	HP:0012377	Hemianopia
10000	AKT3	HP:0001671	Abnormal cardiac septum morphology
10000	AKT3	HP:0000348	High forehead
10000	AKT3	HP:0000316	Hypertelorism
10000	AKT3	HP:0001653	Mitral regurgitation
10000	AKT3	HP:0001629	Ventricular septal defect
10000	AKT3	HP:0011195	EEG with focal sharp slow waves
10000	AKT3	HP:0011193	EEG with focal spikes
10000	AKT3	HP:0011167	Focal tonic seizure
10000	AKT3	HP:0011153	Focal motor seizure
10000	AKT3	HP:0005280	Depressed nasal bridge
10000	AKT3	HP:0000506	Telecanthus
10000	AKT3	HP:0011215	Hemihypsarrhythmia
10002	NR2E3	HP:0001133	Constriction of peripheral visual field
10002	NR2E3	HP:0001249	Intellectual disability
10002	NR2E3	HP:0008736	Hypoplasia of penis
10002	NR2E3	HP:0012047	Hemeralopia
10002	NR2E3	HP:0001347	Hyperreflexia
10002	NR2E3	HP:0000035	Abnormal testis morphology
10002	NR2E3	HP:0000007	Autosomal recessive inheritance
10002	NR2E3	HP:0000006	Autosomal dominant inheritance
10002	NR2E3	HP:0000135	Hypogonadism
10002	NR2E3	HP:0007688	Undetectable light- and dark-adapted electroretinogram
10002	NR2E3	HP:0007675	Progressive night blindness
10002	NR2E3	HP:0007663	Reduced visual acuity
10002	NR2E3	HP:0005978	Type II diabetes mellitus
10002	NR2E3	HP:0003621	Juvenile onset
10002	NR2E3	HP:0030502	Retinoschisis
10002	NR2E3	HP:0000639	Nystagmus
10002	NR2E3	HP:0000648	Optic atrophy
10002	NR2E3	HP:0000642	Red-green dyschromatopsia
10002	NR2E3	HP:0000618	Blindness
10002	NR2E3	HP:0000613	Photophobia
10002	NR2E3	HP:0000602	Ophthalmoplegia
10002	NR2E3	HP:0000662	Nyctalopia
10002	NR2E3	HP:0100018	Nuclear cataract
10002	NR2E3	HP:0011462	Young adult onset
10002	NR2E3	HP:0000842	Hyperinsulinemia
10002	NR2E3	HP:0040049	Macular edema
10002	NR2E3	HP:0000987	Atypical scarring of skin
10002	NR2E3	HP:0000969	Edema
10002	NR2E3	HP:0008046	Abnormal retinal vascular morphology
10002	NR2E3	HP:0008028	Cystoid macular degeneration
10002	NR2E3	HP:0007703	Abnormality of retinal pigmentation
10002	NR2E3	HP:0007787	Posterior subcapsular cataract
10002	NR2E3	HP:0007773	Vitreoretinopathy
10002	NR2E3	HP:0001513	Obesity
10002	NR2E3	HP:0000407	Sensorineural hearing impairment
10002	NR2E3	HP:0000405	Conductive hearing impairment
10002	NR2E3	HP:0000463	Anteverted nares
10002	NR2E3	HP:0000431	Wide nasal bridge
10002	NR2E3	HP:0000518	Cataract
10002	NR2E3	HP:0000510	Rod-cone dystrophy
10002	NR2E3	HP:0000512	Abnormal electroretinogram
10002	NR2E3	HP:0000505	Visual impairment
10002	NR2E3	HP:0000501	Glaucoma
10002	NR2E3	HP:0000580	Pigmentary retinopathy
10002	NR2E3	HP:0000563	Keratoconus
10002	NR2E3	HP:0000550	Undetectable electroretinogram
10002	NR2E3	HP:0000552	Tritanomaly
10008	KCNE3	HP:0002486	Myotonia
10008	KCNE3	HP:0003752	Episodic flaccid weakness
10008	KCNE3	HP:0001279	Syncope
10008	KCNE3	HP:0000006	Autosomal dominant inheritance
10008	KCNE3	HP:0011715	Trifascicular block
10008	KCNE3	HP:0011712	Right bundle branch block
10008	KCNE3	HP:0011704	Sick sinus syndrome
10008	KCNE3	HP:0011705	First degree atrioventricular block
10008	KCNE3	HP:0008180	Mildly elevated creatine kinase
10008	KCNE3	HP:0008153	Periodic hypokalemic paresis
10008	KCNE3	HP:0003470	Paralysis
10008	KCNE3	HP:0003457	EMG abnormality
10008	KCNE3	HP:0004755	Supraventricular tachycardia
10008	KCNE3	HP:0004751	Paroxysmal ventricular tachycardia
10008	KCNE3	HP:0008256	Adrenocortical adenoma
10008	KCNE3	HP:0002203	Respiratory paralysis
10008	KCNE3	HP:0011998	Postprandial hyperglycemia
10008	KCNE3	HP:0003694	Late-onset proximal muscle weakness
10008	KCNE3	HP:0009020	Exercise-induced muscle fatigue
10008	KCNE3	HP:0004303	Abnormal muscle fiber morphology
10008	KCNE3	HP:0004308	Ventricular arrhythmia
10008	KCNE3	HP:0012726	Episodic hypokalemia
10008	KCNE3	HP:0012251	ST segment elevation
10008	KCNE3	HP:0012240	Increased intramyocellular lipid droplets
10008	KCNE3	HP:0030196	Fatigable weakness of respiratory muscles
10008	KCNE3	HP:0001695	Cardiac arrest
10008	KCNE3	HP:0001649	Tachycardia
10008	KCNE3	HP:0001663	Ventricular fibrillation
10008	KCNE3	HP:0006670	Impaired myocardial contractility
10011	SRA1	HP:0008734	Decreased testicular size
10011	SRA1	HP:0000044	Hypogonadotropic hypogonadism
10011	SRA1	HP:0000054	Micropenis
10011	SRA1	HP:0000028	Cryptorchidism
10011	SRA1	HP:0000007	Autosomal recessive inheritance
10011	SRA1	HP:0002215	Sparse axillary hair
10011	SRA1	HP:0002225	Sparse pubic hair
10011	SRA1	HP:0003621	Juvenile onset
10011	SRA1	HP:0000771	Gynecomastia
10011	SRA1	HP:0000789	Infertility
10011	SRA1	HP:0000786	Primary amenorrhea
10011	SRA1	HP:0004408	Abnormality of the sense of smell
10013	HDAC6	HP:0001256	Intellectual disability, mild
10013	HDAC6	HP:0001249	Intellectual disability
10013	HDAC6	HP:0006028	Metaphyseal cupping of metacarpals
10013	HDAC6	HP:0006208	Metaphyseal cupping of proximal phalanges
10013	HDAC6	HP:0001321	Cerebellar hypoplasia
10013	HDAC6	HP:0008905	Rhizomelia
10013	HDAC6	HP:0000154	Wide mouth
10013	HDAC6	HP:0001423	X-linked dominant inheritance
10013	HDAC6	HP:0002007	Frontal bossing
10013	HDAC6	HP:0008364	Abnormality of the calcaneus
10013	HDAC6	HP:0004279	Short palm
10013	HDAC6	HP:0004322	Short stature
10013	HDAC6	HP:0004331	Decreased skull ossification
10013	HDAC6	HP:0003021	Metaphyseal cupping
10013	HDAC6	HP:0012789	Hypoplasia of the calcaneus
10013	HDAC6	HP:0003196	Short nose
10013	HDAC6	HP:0000926	Platyspondyly
10013	HDAC6	HP:0000878	11 pairs of ribs
10013	HDAC6	HP:0000883	Thin ribs
10013	HDAC6	HP:0005871	Metaphyseal chondrodysplasia
10013	HDAC6	HP:0000962	Hyperkeratosis
10013	HDAC6	HP:0000256	Macrocephaly
10013	HDAC6	HP:0006402	Distal shortening of limbs
10013	HDAC6	HP:0000238	Hydrocephalus
10013	HDAC6	HP:0001522	Death in infancy
10013	HDAC6	HP:0002866	Hypoplastic iliac wing
10013	HDAC6	HP:0001511	Intrauterine growth retardation
10013	HDAC6	HP:0000369	Low-set ears
10013	HDAC6	HP:0000347	Micrognathia
10013	HDAC6	HP:0000322	Short philtrum
10013	HDAC6	HP:0000457	Depressed nasal ridge
10013	HDAC6	HP:0001773	Short foot
10013	HDAC6	HP:0000568	Microphthalmia
10015	PDCD6IP	HP:0009879	Simplified gyral pattern
10015	PDCD6IP	HP:0001250	Seizure
10015	PDCD6IP	HP:0001251	Ataxia
10015	PDCD6IP	HP:0001249	Intellectual disability
10015	PDCD6IP	HP:0001263	Global developmental delay
10015	PDCD6IP	HP:0012081	Enlarged cerebellum
10015	PDCD6IP	HP:0000007	Autosomal recessive inheritance
10015	PDCD6IP	HP:0004719	Hyperechogenic kidneys
10015	PDCD6IP	HP:0003577	Congenital onset
10015	PDCD6IP	HP:0005565	Reduced renal corticomedullary differentiation
10015	PDCD6IP	HP:0000752	Hyperactivity
10015	PDCD6IP	HP:0000712	Emotional lability
10015	PDCD6IP	HP:0011451	Primary microcephaly
10015	PDCD6IP	HP:0000348	High forehead
10015	PDCD6IP	HP:0000307	Pointed chin
10015	PDCD6IP	HP:0005326	Hypoplastic philtrum
10015	PDCD6IP	HP:0000486	Strabismus
10015	PDCD6IP	HP:0000490	Deeply set eye
10015	PDCD6IP	HP:0000574	Thick eyebrow
10019	SH2B3	HP:0002488	Acute leukemia
10019	SH2B3	HP:0001342	Cerebral hemorrhage
10019	SH2B3	HP:0000006	Autosomal dominant inheritance
10019	SH2B3	HP:0002641	Peripheral thrombosis
10019	SH2B3	HP:0012156	Hemophagocytosis
10019	SH2B3	HP:0001428	Somatic mutation
10019	SH2B3	HP:0100576	Amaurosis fugax
10019	SH2B3	HP:0008148	Impaired epinephrine-induced platelet aggregation
10019	SH2B3	HP:0011875	Abnormal platelet morphology
10019	SH2B3	HP:0003401	Paresthesia
10019	SH2B3	HP:0004866	Impaired ADP-induced platelet aggregation
10019	SH2B3	HP:0100749	Chest pain
10019	SH2B3	HP:0011974	Myelofibrosis
10019	SH2B3	HP:0008320	Impaired collagen-induced platelet aggregation
10019	SH2B3	HP:0001050	Plethora
10019	SH2B3	HP:0002321	Vertigo
10019	SH2B3	HP:0002315	Headache
10019	SH2B3	HP:0002326	Transient ischemic attack
10019	SH2B3	HP:0100659	Abnormal cerebral vascular morphology
10019	SH2B3	HP:0004936	Venous thrombosis
10019	SH2B3	HP:0005513	Increased megakaryocyte count
10019	SH2B3	HP:0005547	Myeloproliferative disorder
10019	SH2B3	HP:0005561	Abnormality of bone marrow cell morphology
10019	SH2B3	HP:0001945	Fever
10019	SH2B3	HP:0001900	Increased hemoglobin
10019	SH2B3	HP:0003010	Prolonged bleeding time
10019	SH2B3	HP:0004420	Arterial thrombosis
10019	SH2B3	HP:0000822	Hypertension
10019	SH2B3	HP:0000980	Pallor
10019	SH2B3	HP:0000979	Purpura
10019	SH2B3	HP:0002875	Exertional dyspnea
10019	SH2B3	HP:0002863	Myelodysplasia
10019	SH2B3	HP:0012378	Fatigue
10019	SH2B3	HP:0001658	Myocardial infarction
10019	SH2B3	HP:0001744	Splenomegaly
10019	SH2B3	HP:0001894	Thrombocytosis
10019	SH2B3	HP:0001899	Increased hematocrit
10019	SH2B3	HP:0001898	Increased red blood cell mass
10019	SH2B3	HP:0001872	Abnormality of thrombocytes
10020	GNE	HP:0002487	Hyperkinetic movements
10020	GNE	HP:0003791	Deposits immunoreactive to beta-amyloid protein
10020	GNE	HP:0002460	Distal muscle weakness
10020	GNE	HP:0002474	Expressive language delay
10020	GNE	HP:0410156	Increased level of N-acetylneuraminic acid in urine
10020	GNE	HP:0007210	Lower limb amyotrophy
10020	GNE	HP:0003731	Quadriceps muscle weakness
10020	GNE	HP:0003724	Shoulder girdle muscle atrophy
10020	GNE	HP:0001290	Generalized hypotonia
10020	GNE	HP:0001288	Gait disturbance
10020	GNE	HP:0001256	Intellectual disability, mild
10020	GNE	HP:0001250	Seizure
10020	GNE	HP:0001263	Global developmental delay
10020	GNE	HP:0002557	Hypoplastic nipples
10020	GNE	HP:0002574	Episodic abdominal pain
10020	GNE	HP:0007340	Lower limb muscle weakness
10020	GNE	HP:0003805	Rimmed vacuoles
10020	GNE	HP:0001382	Joint hypermobility
10020	GNE	HP:0000023	Inguinal hernia
10020	GNE	HP:0001324	Muscle weakness
10020	GNE	HP:0000007	Autosomal recessive inheritance
10020	GNE	HP:0000006	Autosomal dominant inheritance
10020	GNE	HP:0002650	Scoliosis
10020	GNE	HP:0000158	Macroglossia
10020	GNE	HP:0008963	Tibialis muscle weakness
10020	GNE	HP:0002705	High, narrow palate
10020	GNE	HP:0006251	Limited wrist extension
10020	GNE	HP:0002781	Upper airway obstruction
10020	GNE	HP:0012103	Abnormality of the mitochondrion
10020	GNE	HP:0001433	Hepatosplenomegaly
10020	GNE	HP:0001436	Abnormality of the foot musculature
10020	GNE	HP:0004691	2-3 toe syndactyly
10020	GNE	HP:0002007	Frontal bossing
10020	GNE	HP:0003376	Steppage gait
10020	GNE	HP:0008180	Mildly elevated creatine kinase
10020	GNE	HP:0008151	Prolonged prothrombin time
10020	GNE	HP:0003458	EMG: myopathic abnormalities
10020	GNE	HP:0003438	Absent Achilles reflex
10020	GNE	HP:0002162	Low posterior hairline
10020	GNE	HP:0010535	Sleep apnea
10020	GNE	HP:0003593	Infantile onset
10020	GNE	HP:0002240	Hepatomegaly
10020	GNE	HP:0003581	Adult onset
10020	GNE	HP:0003547	Shoulder girdle muscle weakness
10020	GNE	HP:0002230	Generalized hirsutism
10020	GNE	HP:0003557	Increased variability in muscle fiber diameter
10020	GNE	HP:0007010	Poor fine motor coordination
10020	GNE	HP:0007018	Attention deficit hyperactivity disorder
10020	GNE	HP:0010628	Facial palsy
10020	GNE	HP:0003693	Distal amyotrophy
10020	GNE	HP:0003691	Scapular winging
10020	GNE	HP:0001007	Hirsutism
10020	GNE	HP:0002354	Memory impairment
10020	GNE	HP:0003645	Prolonged partial thromboplastin time
10020	GNE	HP:0001081	Cholelithiasis
10020	GNE	HP:0008443	Neuropathic spinal arthropathy
10020	GNE	HP:0009077	Weakness of long finger extensor muscles
10020	GNE	HP:0000629	Periorbital fullness
10020	GNE	HP:0001939	Abnormality of metabolism/homeostasis
10020	GNE	HP:0009053	Distal lower limb muscle weakness
10020	GNE	HP:0009027	Foot dorsiflexor weakness
10020	GNE	HP:0001999	Abnormal facial shape
10020	GNE	HP:0000664	Synophrys
10020	GNE	HP:0000821	Hypothyroidism
10020	GNE	HP:0040047	Abnormal right hemidiaphragm morphology
10020	GNE	HP:0003236	Elevated circulating creatine kinase concentration
10020	GNE	HP:0100284	EMG: myotonic discharges
10020	GNE	HP:0000943	Dysostosis multiplex
10020	GNE	HP:0100299	Muscle fiber inclusion bodies
10020	GNE	HP:0000286	Epicanthus
10020	GNE	HP:0000280	Coarse facial features
10020	GNE	HP:0000256	Macrocephaly
10020	GNE	HP:0006467	Limited shoulder movement
10020	GNE	HP:0000219	Thin upper lip vermilion
10020	GNE	HP:0000218	High palate
10020	GNE	HP:0030007	EMG: positive sharp waves
10020	GNE	HP:0001538	Protuberant abdomen
10020	GNE	HP:0001507	Growth abnormality
10020	GNE	HP:0005257	Thoracic hypoplasia
10020	GNE	HP:0001609	Hoarse voice
10020	GNE	HP:0002910	Elevated hepatic transaminase
10020	GNE	HP:0000369	Low-set ears
10020	GNE	HP:0000343	Long philtrum
10020	GNE	HP:0000319	Smooth philtrum
10020	GNE	HP:0000316	Hypertelorism
10020	GNE	HP:0001638	Cardiomyopathy
10020	GNE	HP:0001744	Splenomegaly
10020	GNE	HP:0000431	Wide nasal bridge
10020	GNE	HP:0001847	Long hallux
10020	GNE	HP:0012548	Fatty replacement of skeletal muscle
10020	GNE	HP:0011220	Prominent forehead
10020	GNE	HP:0012515	Hip flexor weakness
10021	HCN4	HP:0001279	Syncope
10021	HCN4	HP:0001256	Intellectual disability, mild
10021	HCN4	HP:0000006	Autosomal dominant inheritance
10021	HCN4	HP:0011715	Trifascicular block
10021	HCN4	HP:0011712	Right bundle branch block
10021	HCN4	HP:0011704	Sick sinus syndrome
10021	HCN4	HP:0011705	First degree atrioventricular block
10021	HCN4	HP:0004757	Paroxysmal atrial fibrillation
10021	HCN4	HP:0004756	Ventricular tachycardia
10021	HCN4	HP:0004755	Supraventricular tachycardia
10021	HCN4	HP:0004751	Paroxysmal ventricular tachycardia
10021	HCN4	HP:0003593	Infantile onset
10021	HCN4	HP:0003577	Congenital onset
10021	HCN4	HP:0003581	Adult onset
10021	HCN4	HP:0003621	Juvenile onset
10021	HCN4	HP:0004308	Ventricular arrhythmia
10021	HCN4	HP:0030682	Left ventricular noncompaction
10021	HCN4	HP:0000750	Delayed speech and language development
10021	HCN4	HP:0012251	ST segment elevation
10021	HCN4	HP:0005110	Atrial fibrillation
10021	HCN4	HP:0005184	Prolonged QTc interval
10021	HCN4	HP:0001695	Cardiac arrest
10021	HCN4	HP:0001688	Sinus bradycardia
10021	HCN4	HP:0001664	Torsade de pointes
10021	HCN4	HP:0032794	Myoclonic seizure
10021	HCN4	HP:0001649	Tachycardia
10021	HCN4	HP:0001645	Sudden cardiac death
10021	HCN4	HP:0001663	Ventricular fibrillation
10021	HCN4	HP:0001662	Bradycardia
10021	HCN4	HP:0001659	Aortic regurgitation
10021	HCN4	HP:0001634	Mitral valve prolapse
10021	HCN4	HP:0001712	Left ventricular hypertrophy
10021	HCN4	HP:0025708	Early young adult onset
10026	PIGK	HP:0001156	Brachydactyly
10026	PIGK	HP:0008593	Prominent antitragus
10026	PIGK	HP:0009890	High anterior hairline
10026	PIGK	HP:0001290	Generalized hypotonia
10026	PIGK	HP:0001272	Cerebellar atrophy
10026	PIGK	HP:0001250	Seizure
10026	PIGK	HP:0001251	Ataxia
10026	PIGK	HP:0001263	Global developmental delay
10026	PIGK	HP:0000007	Autosomal recessive inheritance
10026	PIGK	HP:0003593	Infantile onset
10026	PIGK	HP:0000678	Dental crowding
10026	PIGK	HP:0003155	Elevated circulating alkaline phosphatase concentration
10026	PIGK	HP:0003282	Low alkaline phosphatase
10026	PIGK	HP:0000276	Long face
10026	PIGK	HP:0000219	Thin upper lip vermilion
10026	PIGK	HP:0005338	Sparse lateral eyebrow
10026	PIGK	HP:0011220	Prominent forehead
10026	PIGK	HP:0041048	Decreased expression of GPI-anchored proteins on the cell surface
10043	TOM1	HP:0100817	Renovascular hypertension
10043	TOM1	HP:0010976	B lymphocytopenia
10043	TOM1	HP:0000009	Functional abnormality of the bladder
10043	TOM1	HP:0000006	Autosomal dominant inheritance
10043	TOM1	HP:0012182	Oropharyngeal squamous cell carcinoma
10043	TOM1	HP:0012163	Carotid artery dilatation
10043	TOM1	HP:0012115	Hepatitis
10043	TOM1	HP:0002788	Recurrent upper respiratory tract infections
10043	TOM1	HP:0001433	Hepatosplenomegaly
10043	TOM1	HP:0002750	Delayed skeletal maturation
10043	TOM1	HP:0002719	Recurrent infections
10043	TOM1	HP:0002728	Chronic mucocutaneous candidiasis
10043	TOM1	HP:0002724	Recurrent Aspergillus infections
10043	TOM1	HP:0002720	Decreased circulating IgA level
10043	TOM1	HP:0002721	Immunodeficiency
10043	TOM1	HP:0002028	Chronic diarrhea
10043	TOM1	HP:0040313	Oligoarthritis
10043	TOM1	HP:0002014	Diarrhea
10043	TOM1	HP:0002013	Vomiting
10043	TOM1	HP:0002092	Pulmonary arterial hypertension
10043	TOM1	HP:0002110	Bronchiectasis
10043	TOM1	HP:0003593	Infantile onset
10043	TOM1	HP:0002242	Abnormal intestine morphology
10043	TOM1	HP:0002205	Recurrent respiratory infections
10043	TOM1	HP:0002206	Pulmonary fibrosis
10043	TOM1	HP:0020072	Persistent EBV viremia
10043	TOM1	HP:0002383	Infectious encephalitis
10043	TOM1	HP:0001019	Erythroderma
10043	TOM1	HP:0100651	Type I diabetes mellitus
10043	TOM1	HP:0100646	Thyroiditis
10043	TOM1	HP:0033454	Tube feeding
10043	TOM1	HP:0004966	Medial calcification of large arteries
10043	TOM1	HP:0003621	Juvenile onset
10043	TOM1	HP:0003613	Antiphospholipid antibody positivity
10043	TOM1	HP:0004944	Dilatation of the cerebral artery
10043	TOM1	HP:0001973	Autoimmune thrombocytopenia
10043	TOM1	HP:0001920	Renal artery stenosis
10043	TOM1	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
10043	TOM1	HP:0004322	Short stature
10043	TOM1	HP:0004315	Decreased circulating IgG level
10043	TOM1	HP:0004387	Enterocolitis
10043	TOM1	HP:0011473	Villous atrophy
10043	TOM1	HP:0011459	Esophageal carcinoma
10043	TOM1	HP:0000832	Primary hypothyroidism
10043	TOM1	HP:0000818	Abnormality of the endocrine system
10043	TOM1	HP:0000823	Delayed puberty
10043	TOM1	HP:0040218	Reduced natural killer cell count
10043	TOM1	HP:0000964	Eczema
10043	TOM1	HP:0000938	Osteopenia
10043	TOM1	HP:0040160	Generalized osteoporosis
10043	TOM1	HP:0001531	Failure to thrive in infancy
10043	TOM1	HP:0002850	Decreased circulating total IgM
10043	TOM1	HP:0001510	Growth delay
10043	TOM1	HP:0001655	Patent foramen ovale
10043	TOM1	HP:0002958	Immune dysregulation
10043	TOM1	HP:0001635	Congestive heart failure
10043	TOM1	HP:0005353	Recurrent herpes
10043	TOM1	HP:0011123	Inflammatory abnormality of the skin
10043	TOM1	HP:0005407	Decreased proportion of CD4-positive helper T cells
10043	TOM1	HP:0005403	T lymphocytopenia
10043	TOM1	HP:0005479	Decreased circulating IgE
10043	TOM1	HP:0030355	Abnormal circulating interferon-gamma concentration
10043	TOM1	HP:0001890	Autoimmune hemolytic anemia
10043	TOM1	HP:0030374	Decreased proportion of memory B cells
10043	TOM1	HP:0001888	Lymphopenia
10043	TOM1	HP:0001873	Thrombocytopenia
10046	MAMLD1	HP:0001290	Generalized hypotonia
10046	MAMLD1	HP:0008722	Urethral diverticulum
10046	MAMLD1	HP:0000054	Micropenis
10046	MAMLD1	HP:0001382	Joint hypermobility
10046	MAMLD1	HP:0000048	Bifid scrotum
10046	MAMLD1	HP:0000028	Cryptorchidism
10046	MAMLD1	HP:0000175	Cleft palate
10046	MAMLD1	HP:0001419	X-linked recessive inheritance
10046	MAMLD1	HP:0002023	Anal atresia
10046	MAMLD1	HP:0002032	Esophageal atresia
10046	MAMLD1	HP:0040314	Blind vagina
10046	MAMLD1	HP:0002093	Respiratory insufficiency
10046	MAMLD1	HP:0008226	Androgen insufficiency
10046	MAMLD1	HP:0003577	Congenital onset
10046	MAMLD1	HP:0011968	Feeding difficulties
10046	MAMLD1	HP:0100627	Displacement of the urethral meatus
10046	MAMLD1	HP:0000808	Penoscrotal hypospadias
10046	MAMLD1	HP:0000807	Glandular hypospadias
10046	MAMLD1	HP:0000739	Anxiety
10046	MAMLD1	HP:0000716	Depression
10046	MAMLD1	HP:0000776	Congenital diaphragmatic hernia
10046	MAMLD1	HP:0000883	Thin ribs
10046	MAMLD1	HP:0000818	Abnormality of the endocrine system
10046	MAMLD1	HP:0003244	Penile hypospadias
10046	MAMLD1	HP:0000278	Retrognathia
10046	MAMLD1	HP:0000218	High palate
10046	MAMLD1	HP:0001561	Polyhydramnios
10046	MAMLD1	HP:0001539	Omphalocele
10046	MAMLD1	HP:0001518	Small for gestational age
10046	MAMLD1	HP:0012435	Ventral shortening of foreskin
10049	DNAJB6	HP:0003749	Pelvic girdle muscle weakness
10049	DNAJB6	HP:0003715	Myofibrillar myopathy
10049	DNAJB6	HP:0001283	Bulbar palsy
10049	DNAJB6	HP:0001260	Dysarthria
10049	DNAJB6	HP:0002515	Waddling gait
10049	DNAJB6	HP:0002505	Loss of ambulation
10049	DNAJB6	HP:0003805	Rimmed vacuoles
10049	DNAJB6	HP:0001371	Flexion contracture
10049	DNAJB6	HP:0000006	Autosomal dominant inheritance
10049	DNAJB6	HP:0003326	Myalgia
10049	DNAJB6	HP:0002015	Dysphagia
10049	DNAJB6	HP:0003324	Generalized muscle weakness
10049	DNAJB6	HP:0002094	Dyspnea
10049	DNAJB6	HP:0003391	Gowers sign
10049	DNAJB6	HP:0030951	Skeletal muscle fibrosis
10049	DNAJB6	HP:0010548	Percussion myotonia
10049	DNAJB6	HP:0003555	Muscle fiber splitting
10049	DNAJB6	HP:0003551	Difficulty climbing stairs
10049	DNAJB6	HP:0003547	Shoulder girdle muscle weakness
10049	DNAJB6	HP:0003560	Muscular dystrophy
10049	DNAJB6	HP:0003557	Increased variability in muscle fiber diameter
10049	DNAJB6	HP:0033383	Decreased compound muscle action potential amplitude
10049	DNAJB6	HP:0010628	Facial palsy
10049	DNAJB6	HP:0003677	Slowly progressive
10049	DNAJB6	HP:0009046	Difficulty running
10049	DNAJB6	HP:0004303	Abnormal muscle fiber morphology
10049	DNAJB6	HP:0011462	Young adult onset
10049	DNAJB6	HP:0003236	Elevated circulating creatine kinase concentration
10049	DNAJB6	HP:0012548	Fatty replacement of skeletal muscle
10054	UBA2	HP:0009921	Duane anomaly
10054	UBA2	HP:0001270	Motor delay
10054	UBA2	HP:0001263	Global developmental delay
10054	UBA2	HP:0002558	Supernumerary nipple
10054	UBA2	HP:0002575	Tracheoesophageal fistula
10054	UBA2	HP:0006101	Finger syndactyly
10054	UBA2	HP:0007383	Congenital localized absence of skin
10054	UBA2	HP:0007385	Aplasia cutis congenita of scalp
10054	UBA2	HP:0000085	Horseshoe kidney
10054	UBA2	HP:0001385	Hip dysplasia
10054	UBA2	HP:0001362	Calvarial skull defect
10054	UBA2	HP:0000006	Autosomal dominant inheritance
10054	UBA2	HP:0003577	Congenital onset
10054	UBA2	HP:0002209	Sparse scalp hair
10054	UBA2	HP:0002205	Recurrent respiratory infections
10054	UBA2	HP:0011968	Feeding difficulties
10054	UBA2	HP:0010628	Facial palsy
10054	UBA2	HP:0200042	Skin ulcer
10054	UBA2	HP:0004209	Clinodactyly of the 5th finger
10054	UBA2	HP:0003010	Prolonged bleeding time
10054	UBA2	HP:0004348	Abnormality of bone mineral density
10054	UBA2	HP:0000750	Delayed speech and language development
10054	UBA2	HP:0000729	Autistic behavior
10054	UBA2	HP:0004471	Aplasia cutis congenita over the scalp vertex
10054	UBA2	HP:0100257	Ectrodactyly
10054	UBA2	HP:0010301	Spinal dysraphism
10054	UBA2	HP:0000278	Retrognathia
10054	UBA2	HP:0002827	Hip dislocation
10054	UBA2	HP:0001508	Failure to thrive
10054	UBA2	HP:0000369	Low-set ears
10054	UBA2	HP:0000348	High forehead
10054	UBA2	HP:0000486	Strabismus
10054	UBA2	HP:0001770	Toe syndactyly
10054	UBA2	HP:0000411	Protruding ear
10054	UBA2	HP:0001839	Split foot
10056	FARSB	HP:0001290	Generalized hypotonia
10056	FARSB	HP:0001250	Seizure
10056	FARSB	HP:0001252	Hypotonia
10056	FARSB	HP:0001263	Global developmental delay
10056	FARSB	HP:0002566	Intestinal malrotation
10056	FARSB	HP:0002514	Cerebral calcification
10056	FARSB	HP:0001397	Hepatic steatosis
10056	FARSB	HP:0001396	Cholestasis
10056	FARSB	HP:0001394	Cirrhosis
10056	FARSB	HP:0012050	Anasarca
10056	FARSB	HP:0000046	Small scrotum
10056	FARSB	HP:0001388	Joint laxity
10056	FARSB	HP:0000023	Inguinal hernia
10056	FARSB	HP:0001328	Specific learning disability
10056	FARSB	HP:0000010	Recurrent urinary tract infections
10056	FARSB	HP:0000007	Autosomal recessive inheritance
10056	FARSB	HP:0002650	Scoliosis
10056	FARSB	HP:0008936	Axial hypotonia
10056	FARSB	HP:0002789	Tachypnea
10056	FARSB	HP:0002753	Thin bony cortex
10056	FARSB	HP:0001410	Decreased liver function
10056	FARSB	HP:0001409	Portal hypertension
10056	FARSB	HP:0001408	Bile duct proliferation
10056	FARSB	HP:0002750	Delayed skeletal maturation
10056	FARSB	HP:0002748	Rickets
10056	FARSB	HP:0002020	Gastroesophageal reflux
10056	FARSB	HP:0002013	Vomiting
10056	FARSB	HP:0002097	Emphysema
10056	FARSB	HP:0002093	Respiratory insufficiency
10056	FARSB	HP:0002040	Esophageal varix
10056	FARSB	HP:0002059	Cerebral atrophy
10056	FARSB	HP:0100512	Low levels of vitamin D
10056	FARSB	HP:0008282	Unconjugated hyperbilirubinemia
10056	FARSB	HP:0003593	Infantile onset
10056	FARSB	HP:0003546	Exercise intolerance
10056	FARSB	HP:0011968	Feeding difficulties
10056	FARSB	HP:0002315	Headache
10056	FARSB	HP:0004944	Dilatation of the cerebral artery
10056	FARSB	HP:0004905	Low levels of vitamin A
10056	FARSB	HP:0001943	Hypoglycemia
10056	FARSB	HP:0000601	Hypotelorism
10056	FARSB	HP:0001903	Anemia
10056	FARSB	HP:0004322	Short stature
10056	FARSB	HP:0003073	Hypoalbuminemia
10056	FARSB	HP:0004349	Reduced bone mineral density
10056	FARSB	HP:0012735	Cough
10056	FARSB	HP:0000767	Pectus excavatum
10056	FARSB	HP:0011461	Fetal onset
10056	FARSB	HP:0000938	Osteopenia
10056	FARSB	HP:0000252	Microcephaly
10056	FARSB	HP:0002878	Respiratory failure
10056	FARSB	HP:0000218	High palate
10056	FARSB	HP:0001562	Oligohydramnios
10056	FARSB	HP:0001541	Ascites
10056	FARSB	HP:0001533	Slender build
10056	FARSB	HP:0001508	Failure to thrive
10056	FARSB	HP:0001518	Small for gestational age
10056	FARSB	HP:0001511	Intrauterine growth retardation
10056	FARSB	HP:0001510	Growth delay
10056	FARSB	HP:0006530	Abnormal pulmonary interstitial morphology
10056	FARSB	HP:0002910	Elevated hepatic transaminase
10056	FARSB	HP:0002901	Hypocalcemia
10056	FARSB	HP:0032988	Persistent head lag
10056	FARSB	HP:0000490	Deeply set eye
10056	FARSB	HP:0011220	Prominent forehead
10056	FARSB	HP:0001876	Pancytopenia
10058	ABCB6	HP:0003768	Periodic paralysis
10058	ABCB6	HP:0007565	Multiple cafe-au-lait spots
10058	ABCB6	HP:0000006	Autosomal dominant inheritance
10058	ABCB6	HP:0001480	Freckling
10058	ABCB6	HP:0003324	Generalized muscle weakness
10058	ABCB6	HP:0003394	Muscle spasm
10058	ABCB6	HP:0002153	Hyperkalemia
10058	ABCB6	HP:0020073	Hypopigmented macule
10058	ABCB6	HP:0004802	Episodic hemolytic anemia
10058	ABCB6	HP:0001053	Hypopigmented skin patches
10058	ABCB6	HP:0001034	Hypermelanotic macule
10058	ABCB6	HP:0002378	Hand tremor
10058	ABCB6	HP:0005518	Increased mean corpuscular volume
10058	ABCB6	HP:0005590	Spotty hypopigmentation
10058	ABCB6	HP:0001923	Reticulocytosis
10058	ABCB6	HP:0004322	Short stature
10058	ABCB6	HP:0012733	Macule
10058	ABCB6	HP:0011463	Childhood onset
10058	ABCB6	HP:0004446	Stomatocytosis
10058	ABCB6	HP:0000822	Hypertension
10058	ABCB6	HP:0000992	Cutaneous photosensitivity
10058	ABCB6	HP:0000365	Hearing impairment
10058	ABCB6	HP:0000589	Coloboma
10058	ABCB6	HP:0000568	Microphthalmia
10058	ABCB6	HP:0001878	Hemolytic anemia
10059	DNM1L	HP:0002490	Increased CSF lactate
10059	DNM1L	HP:0009921	Duane anomaly
10059	DNM1L	HP:0007256	Abnormal pyramidal sign
10059	DNM1L	HP:0001298	Encephalopathy
10059	DNM1L	HP:0001290	Generalized hypotonia
10059	DNM1L	HP:0001272	Cerebellar atrophy
10059	DNM1L	HP:0001270	Motor delay
10059	DNM1L	HP:0001269	Hemiparesis
10059	DNM1L	HP:0001288	Gait disturbance
10059	DNM1L	HP:0001284	Areflexia
10059	DNM1L	HP:0001250	Seizure
10059	DNM1L	HP:0001252	Hypotonia
10059	DNM1L	HP:0001251	Ataxia
10059	DNM1L	HP:0001263	Global developmental delay
10059	DNM1L	HP:0001258	Spastic paraplegia
10059	DNM1L	HP:0001257	Spasticity
10059	DNM1L	HP:0410263	Brain imaging abnormality
10059	DNM1L	HP:0007371	Corpus callosum atrophy
10059	DNM1L	HP:0007366	Atrophy/Degeneration affecting the brainstem
10059	DNM1L	HP:0007359	Focal-onset seizure
10059	DNM1L	HP:0002540	Inability to walk
10059	DNM1L	HP:0002518	Abnormal periventricular white matter morphology
10059	DNM1L	HP:0002506	Diffuse cerebral atrophy
10059	DNM1L	HP:0001332	Dystonia
10059	DNM1L	HP:0001344	Absent speech
10059	DNM1L	HP:0000007	Autosomal recessive inheritance
10059	DNM1L	HP:0001337	Tremor
10059	DNM1L	HP:0000006	Autosomal dominant inheritance
10059	DNM1L	HP:0002650	Scoliosis
10059	DNM1L	HP:0002643	Neonatal respiratory distress
10059	DNM1L	HP:0012169	Self-biting
10059	DNM1L	HP:0001488	Bilateral ptosis
10059	DNM1L	HP:0000135	Hypogonadism
10059	DNM1L	HP:0008936	Axial hypotonia
10059	DNM1L	HP:0012103	Abnormality of the mitochondrion
10059	DNM1L	HP:0003348	Hyperalaninemia
10059	DNM1L	HP:0003326	Myalgia
10059	DNM1L	HP:0002015	Dysphagia
10059	DNM1L	HP:0100543	Cognitive impairment
10059	DNM1L	HP:0002069	Bilateral tonic-clonic seizure
10059	DNM1L	HP:0002076	Migraine
10059	DNM1L	HP:0002059	Cerebral atrophy
10059	DNM1L	HP:0002151	Increased serum lactate
10059	DNM1L	HP:0002123	Generalized myoclonic seizure
10059	DNM1L	HP:0002135	Basal ganglia calcification
10059	DNM1L	HP:0002133	Status epilepticus
10059	DNM1L	HP:0002188	Delayed CNS myelination
10059	DNM1L	HP:0010553	Oculogyric crisis
10059	DNM1L	HP:0200134	Epileptic encephalopathy
10059	DNM1L	HP:0007021	Pain insensitivity
10059	DNM1L	HP:0011968	Feeding difficulties
10059	DNM1L	HP:0002384	Focal impaired awareness seizure
10059	DNM1L	HP:0002381	Aphasia
10059	DNM1L	HP:0003691	Scapular winging
10059	DNM1L	HP:0002376	Developmental regression
10059	DNM1L	HP:0003676	Progressive
10059	DNM1L	HP:0002355	Difficulty walking
10059	DNM1L	HP:0003677	Slowly progressive
10059	DNM1L	HP:0007141	Sensorimotor neuropathy
10059	DNM1L	HP:0003623	Neonatal onset
10059	DNM1L	HP:0002307	Drooling
10059	DNM1L	HP:0002305	Athetosis
10059	DNM1L	HP:0030515	Moderately reduced visual acuity
10059	DNM1L	HP:0006801	Hyperactive deep tendon reflexes
10059	DNM1L	HP:0000639	Nystagmus
10059	DNM1L	HP:0000648	Optic atrophy
10059	DNM1L	HP:0001972	Macrocytic anemia
10059	DNM1L	HP:0000602	Ophthalmoplegia
10059	DNM1L	HP:0000603	Central scotoma
10059	DNM1L	HP:0010055	Broad hallux
10059	DNM1L	HP:0000657	Oculomotor apraxia
10059	DNM1L	HP:0011304	Broad thumb
10059	DNM1L	HP:0000666	Horizontal nystagmus
10059	DNM1L	HP:0000738	Hallucinations
10059	DNM1L	HP:0012707	Elevated brain lactate level by MRS
10059	DNM1L	HP:0000711	Restlessness
10059	DNM1L	HP:0000726	Dementia
10059	DNM1L	HP:0011471	Gastrostomy tube feeding in infancy
10059	DNM1L	HP:0003198	Myopathy
10059	DNM1L	HP:0034298	Elevated circulating hexacosanoic acid concentration
10059	DNM1L	HP:0003128	Lactic acidosis
10059	DNM1L	HP:0000819	Diabetes mellitus
10059	DNM1L	HP:0000821	Hypothyroidism
10059	DNM1L	HP:0003202	Skeletal muscle atrophy
10059	DNM1L	HP:0000252	Microcephaly
10059	DNM1L	HP:0025514	Morning glory anomaly
10059	DNM1L	HP:0001558	Decreased fetal movement
10059	DNM1L	HP:0001522	Death in infancy
10059	DNM1L	HP:0001508	Failure to thrive
10059	DNM1L	HP:0012378	Fatigue
10059	DNM1L	HP:0000307	Pointed chin
10059	DNM1L	HP:0007924	Slow decrease in visual acuity
10059	DNM1L	HP:0030319	Weakness of facial musculature
10059	DNM1L	HP:0000407	Sensorineural hearing impairment
10059	DNM1L	HP:0000486	Strabismus
10059	DNM1L	HP:0000490	Deeply set eye
10059	DNM1L	HP:0001761	Pes cavus
10059	DNM1L	HP:0000518	Cataract
10059	DNM1L	HP:0000508	Ptosis
10059	DNM1L	HP:0000505	Visual impairment
10059	DNM1L	HP:0012569	Delayed menarche
10059	DNM1L	HP:0000552	Tritanomaly
10059	DNM1L	HP:0000551	Color vision defect
10059	DNM1L	HP:0012511	Temporal optic disc pallor
10059	DNM1L	HP:0000543	Optic disc pallor
10060	ABCC9	HP:0025169	Left ventricular systolic dysfunction
10060	ABCC9	HP:0009882	Short distal phalanx of finger
10060	ABCC9	HP:0001279	Syncope
10060	ABCC9	HP:0001256	Intellectual disability, mild
10060	ABCC9	HP:0001252	Hypotonia
10060	ABCC9	HP:0006101	Finger syndactyly
10060	ABCC9	HP:0001374	Congenital hip dislocation
10060	ABCC9	HP:0001377	Limited elbow extension
10060	ABCC9	HP:0002690	Large sella turcica
10060	ABCC9	HP:0008822	Hypoplastic ischiopubic rami
10060	ABCC9	HP:0002673	Coxa valga
10060	ABCC9	HP:0000007	Autosomal recessive inheritance
10060	ABCC9	HP:0000006	Autosomal dominant inheritance
10060	ABCC9	HP:0002652	Skeletal dysplasia
10060	ABCC9	HP:0002650	Scoliosis
10060	ABCC9	HP:0000179	Thick lower lip vermilion
10060	ABCC9	HP:0000154	Wide mouth
10060	ABCC9	HP:0007665	Curly eyelashes
10060	ABCC9	HP:0500093	Food allergy
10060	ABCC9	HP:0002750	Delayed skeletal maturation
10060	ABCC9	HP:0004634	Cuboid-shaped vertebral bodies
10060	ABCC9	HP:0003300	Ovoid vertebral bodies
10060	ABCC9	HP:0100578	Lipoatrophy
10060	ABCC9	HP:0011715	Trifascicular block
10060	ABCC9	HP:0011712	Right bundle branch block
10060	ABCC9	HP:0011704	Sick sinus syndrome
10060	ABCC9	HP:0011705	First degree atrioventricular block
10060	ABCC9	HP:0003457	EMG abnormality
10060	ABCC9	HP:0004757	Paroxysmal atrial fibrillation
10060	ABCC9	HP:0004756	Ventricular tachycardia
10060	ABCC9	HP:0004755	Supraventricular tachycardia
10060	ABCC9	HP:0004751	Paroxysmal ventricular tachycardia
10060	ABCC9	HP:0002162	Low posterior hairline
10060	ABCC9	HP:0002172	Postural instability
10060	ABCC9	HP:0033204	Triceps hyperreflexia
10060	ABCC9	HP:0010535	Sleep apnea
10060	ABCC9	HP:0003596	Middle age onset
10060	ABCC9	HP:0003593	Infantile onset
10060	ABCC9	HP:0003577	Congenital onset
10060	ABCC9	HP:0002230	Generalized hirsutism
10060	ABCC9	HP:0032012	Heterotropia
10060	ABCC9	HP:0020045	Esodeviation
10060	ABCC9	HP:0002395	Lower limb hyperreflexia
10060	ABCC9	HP:0001047	Atopic dermatitis
10060	ABCC9	HP:0001004	Lymphedema
10060	ABCC9	HP:0004975	Erlenmeyer flask deformity of the femurs
10060	ABCC9	HP:0010068	Broad first metatarsal
10060	ABCC9	HP:0010059	Broad hallux phalanx
10060	ABCC9	HP:0005590	Spotty hypopigmentation
10060	ABCC9	HP:0000639	Nystagmus
10060	ABCC9	HP:0000601	Hypotelorism
10060	ABCC9	HP:0010055	Broad hallux
10060	ABCC9	HP:0000689	Dental malocclusion
10060	ABCC9	HP:0004308	Ventricular arrhythmia
10060	ABCC9	HP:0005616	Accelerated skeletal maturation
10060	ABCC9	HP:0003016	Metaphyseal widening
10060	ABCC9	HP:0000739	Anxiety
10060	ABCC9	HP:0010109	Short hallux
10060	ABCC9	HP:0000774	Narrow chest
10060	ABCC9	HP:0003198	Myopathy
10060	ABCC9	HP:0000926	Platyspondyly
10060	ABCC9	HP:0000885	Broad ribs
10060	ABCC9	HP:0003236	Elevated circulating creatine kinase concentration
10060	ABCC9	HP:0004540	Congenital, generalized hypertrichosis
10060	ABCC9	HP:0030891	Periventricular white matter hyperintensities
10060	ABCC9	HP:0000982	Palmoplantar keratoderma
10060	ABCC9	HP:0000957	Cafe-au-lait spot
10060	ABCC9	HP:0000965	Cutis marmorata
10060	ABCC9	HP:0000939	Osteoporosis
10060	ABCC9	HP:0000944	Abnormal metaphysis morphology
10060	ABCC9	HP:0000286	Epicanthus
10060	ABCC9	HP:0000280	Coarse facial features
10060	ABCC9	HP:0000294	Low anterior hairline
10060	ABCC9	HP:0012251	ST segment elevation
10060	ABCC9	HP:0000256	Macrocephaly
10060	ABCC9	HP:0005129	Congenital hypertrophy of left ventricle
10060	ABCC9	HP:0001566	Widely-spaced maxillary central incisors
10060	ABCC9	HP:0000219	Thin upper lip vermilion
10060	ABCC9	HP:0000212	Gingival overgrowth
10060	ABCC9	HP:0000215	Thick upper lip vermilion
10060	ABCC9	HP:0001537	Umbilical hernia
10060	ABCC9	HP:0001520	Large for gestational age
10060	ABCC9	HP:0011081	Incisor macrodontia
10060	ABCC9	HP:0012378	Fatigue
10060	ABCC9	HP:0012368	Flat face
10060	ABCC9	HP:0002938	Lumbar hyperlordosis
10060	ABCC9	HP:0001695	Cardiac arrest
10060	ABCC9	HP:0001698	Pericardial effusion
10060	ABCC9	HP:0000343	Long philtrum
10060	ABCC9	HP:0000336	Prominent supraorbital ridges
10060	ABCC9	HP:0001647	Bicuspid aortic valve
10060	ABCC9	HP:0001649	Tachycardia
10060	ABCC9	HP:0001643	Patent ductus arteriosus
10060	ABCC9	HP:0001644	Dilated cardiomyopathy
10060	ABCC9	HP:0001663	Ventricular fibrillation
10060	ABCC9	HP:0001654	Abnormal heart valve morphology
10060	ABCC9	HP:0001640	Cardiomegaly
10060	ABCC9	HP:0001639	Hypertrophic cardiomyopathy
10060	ABCC9	HP:0001635	Congestive heart failure
10060	ABCC9	HP:0006670	Impaired myocardial contractility
10060	ABCC9	HP:0000407	Sensorineural hearing impairment
10060	ABCC9	HP:0005280	Depressed nasal bridge
10060	ABCC9	HP:0012471	Thick vermilion border
10060	ABCC9	HP:0000463	Anteverted nares
10060	ABCC9	HP:0000455	Broad nasal tip
10060	ABCC9	HP:0000470	Short neck
10060	ABCC9	HP:0001771	Achilles tendon contracture
10060	ABCC9	HP:0000431	Wide nasal bridge
10060	ABCC9	HP:0005445	Enlarged posterior fossa
10060	ABCC9	HP:0000527	Long eyelashes
10060	ABCC9	HP:0011220	Prominent forehead
10060	ABCC9	HP:0000574	Thick eyebrow
10060	ABCC9	HP:0000565	Esotropia
10060	ABCC9	HP:0001869	Deep plantar creases
10060	ABCC9	HP:0001874	Abnormality of neutrophils
10068	IL18BP	HP:0001259	Coma
10068	IL18BP	HP:0001399	Hepatic failure
10068	IL18BP	HP:0000007	Autosomal recessive inheritance
10068	IL18BP	HP:0002018	Nausea
10068	IL18BP	HP:0004787	Fulminant hepatitis
10068	IL18BP	HP:0002240	Hepatomegaly
10068	IL18BP	HP:0100651	Type I diabetes mellitus
10068	IL18BP	HP:0004396	Poor appetite
10068	IL18BP	HP:0000872	Hashimoto thyroiditis
10068	IL18BP	HP:0000952	Jaundice
10068	IL18BP	HP:0000225	Gingival bleeding
10068	IL18BP	HP:0012378	Fatigue
10068	IL18BP	HP:0002910	Elevated hepatic transaminase
10075	HUWE1	HP:0001182	Tapered finger
10075	HUWE1	HP:0001156	Brachydactyly
10075	HUWE1	HP:0001290	Generalized hypotonia
10075	HUWE1	HP:0001270	Motor delay
10075	HUWE1	HP:0001250	Seizure
10075	HUWE1	HP:0001249	Intellectual disability
10075	HUWE1	HP:0001264	Spastic diplegia
10075	HUWE1	HP:0001263	Global developmental delay
10075	HUWE1	HP:0001371	Flexion contracture
10075	HUWE1	HP:0000054	Micropenis
10075	HUWE1	HP:0000047	Hypospadias
10075	HUWE1	HP:0001347	Hyperreflexia
10075	HUWE1	HP:0001363	Craniosynostosis
10075	HUWE1	HP:0000028	Cryptorchidism
10075	HUWE1	HP:0001344	Absent speech
10075	HUWE1	HP:0002650	Scoliosis
10075	HUWE1	HP:0000179	Thick lower lip vermilion
10075	HUWE1	HP:0000160	Narrow mouth
10075	HUWE1	HP:0000154	Wide mouth
10075	HUWE1	HP:0002750	Delayed skeletal maturation
10075	HUWE1	HP:0001417	X-linked inheritance
10075	HUWE1	HP:0002079	Hypoplasia of the corpus callosum
10075	HUWE1	HP:0002059	Cerebral atrophy
10075	HUWE1	HP:0002119	Ventriculomegaly
10075	HUWE1	HP:0002162	Low posterior hairline
10075	HUWE1	HP:0003593	Infantile onset
10075	HUWE1	HP:0002360	Sleep disturbance
10075	HUWE1	HP:0002370	Poor coordination
10075	HUWE1	HP:0200055	Small hand
10075	HUWE1	HP:0000639	Nystagmus
10075	HUWE1	HP:0000648	Optic atrophy
10075	HUWE1	HP:0000601	Hypotelorism
10075	HUWE1	HP:0000677	Oligodontia
10075	HUWE1	HP:0004322	Short stature
10075	HUWE1	HP:0031936	Delayed ability to walk
10075	HUWE1	HP:0012745	Short palpebral fissure
10075	HUWE1	HP:0000752	Hyperactivity
10075	HUWE1	HP:0000767	Pectus excavatum
10075	HUWE1	HP:0000750	Delayed speech and language development
10075	HUWE1	HP:0003196	Short nose
10075	HUWE1	HP:0003202	Skeletal muscle atrophy
10075	HUWE1	HP:0000256	Macrocephaly
10075	HUWE1	HP:0000276	Long face
10075	HUWE1	HP:0030084	Clinodactyly
10075	HUWE1	HP:0000243	Trigonocephaly
10075	HUWE1	HP:0000252	Microcephaly
10075	HUWE1	HP:0000248	Brachycephaly
10075	HUWE1	HP:0000219	Thin upper lip vermilion
10075	HUWE1	HP:0000218	High palate
10075	HUWE1	HP:0001518	Small for gestational age
10075	HUWE1	HP:0012385	Camptodactyly
10075	HUWE1	HP:0000378	Cupped ear
10075	HUWE1	HP:0000365	Hearing impairment
10075	HUWE1	HP:0000358	Posteriorly rotated ears
10075	HUWE1	HP:0000369	Low-set ears
10075	HUWE1	HP:0000343	Long philtrum
10075	HUWE1	HP:0000348	High forehead
10075	HUWE1	HP:0000347	Micrognathia
10075	HUWE1	HP:0000316	Hypertelorism
10075	HUWE1	HP:0000322	Short philtrum
10075	HUWE1	HP:0000325	Triangular face
10075	HUWE1	HP:0005280	Depressed nasal bridge
10075	HUWE1	HP:0000486	Strabismus
10075	HUWE1	HP:0000494	Downslanted palpebral fissures
10075	HUWE1	HP:0000490	Deeply set eye
10075	HUWE1	HP:0001792	Small nail
10075	HUWE1	HP:0000455	Broad nasal tip
10075	HUWE1	HP:0001773	Short foot
10075	HUWE1	HP:0000414	Bulbous nose
10075	HUWE1	HP:0000411	Protruding ear
10075	HUWE1	HP:0001845	Overlapping toe
10075	HUWE1	HP:0000508	Ptosis
10075	HUWE1	HP:0000582	Upslanted palpebral fissure
10075	HUWE1	HP:0000581	Blepharophimosis
10075	HUWE1	HP:0000565	Esotropia
10075	HUWE1	HP:0000540	Hypermetropia
10075	HUWE1	HP:0000537	Epicanthus inversus
10075	HUWE1	HP:0000545	Myopia
10082	GPC6	HP:0010880	Increased nuchal translucency
10082	GPC6	HP:0001249	Intellectual disability
10082	GPC6	HP:0008800	Limited hip movement
10082	GPC6	HP:0001377	Limited elbow extension
10082	GPC6	HP:0001363	Craniosynostosis
10082	GPC6	HP:0000028	Cryptorchidism
10082	GPC6	HP:0008873	Disproportionate short-limb short stature
10082	GPC6	HP:0000007	Autosomal recessive inheritance
10082	GPC6	HP:0008905	Rhizomelia
10082	GPC6	HP:0005025	Hypoplastic distal humeri
10082	GPC6	HP:0012107	Increased fibular diameter
10082	GPC6	HP:0002007	Frontal bossing
10082	GPC6	HP:0100790	Hernia
10082	GPC6	HP:0001060	Axillary pterygium
10082	GPC6	HP:0001059	Pterygium
10082	GPC6	HP:0001028	Hemangioma
10082	GPC6	HP:0009756	Popliteal pterygium
10082	GPC6	HP:0004322	Short stature
10082	GPC6	HP:0030680	Abnormality of cardiovascular system morphology
10082	GPC6	HP:0003066	Limited knee extension
10082	GPC6	HP:0003038	Fibular hypoplasia
10082	GPC6	HP:0003042	Elbow dislocation
10082	GPC6	HP:0003027	Mesomelia
10082	GPC6	HP:0004415	Pulmonary artery stenosis
10082	GPC6	HP:0005736	Short tibia
10082	GPC6	HP:0003196	Short nose
10082	GPC6	HP:0005792	Short humerus
10082	GPC6	HP:0045025	Narrow palpebral fissure
10082	GPC6	HP:0000944	Abnormal metaphysis morphology
10082	GPC6	HP:0000286	Epicanthus
10082	GPC6	HP:0000272	Malar flattening
10082	GPC6	HP:0002818	Abnormal morphology of the radius
10082	GPC6	HP:0002823	Abnormality of femur morphology
10082	GPC6	HP:0005085	Limited knee flexion/extension
10082	GPC6	HP:0005050	Anterolateral radial head dislocation
10082	GPC6	HP:0005060	Limited elbow flexion/extension
10082	GPC6	HP:0006389	Limited knee flexion
10082	GPC6	HP:0006376	Limited elbow flexion
10082	GPC6	HP:0001537	Umbilical hernia
10082	GPC6	HP:0012368	Flat face
10082	GPC6	HP:0000358	Posteriorly rotated ears
10082	GPC6	HP:0000369	Low-set ears
10082	GPC6	HP:0000343	Long philtrum
10082	GPC6	HP:0000347	Micrognathia
10082	GPC6	HP:0002983	Micromelia
10082	GPC6	HP:0001629	Ventricular septal defect
10082	GPC6	HP:0001631	Atrial septal defect
10082	GPC6	HP:0005280	Depressed nasal bridge
10082	GPC6	HP:0000463	Anteverted nares
10082	GPC6	HP:0000470	Short neck
10082	GPC6	HP:0000431	Wide nasal bridge
10082	GPC6	HP:0000581	Blepharophimosis
10083	USH1C	HP:0008555	Absent vestibular function
10083	USH1C	HP:0001270	Motor delay
10083	USH1C	HP:0001251	Ataxia
10083	USH1C	HP:0001249	Intellectual disability
10083	USH1C	HP:0001263	Global developmental delay
10083	USH1C	HP:0007360	Aplasia/Hypoplasia of the cerebellum
10083	USH1C	HP:0000007	Autosomal recessive inheritance
10083	USH1C	HP:0012157	Subcortical cerebral atrophy
10083	USH1C	HP:0002120	Cerebral cortical atrophy
10083	USH1C	HP:0003593	Infantile onset
10083	USH1C	HP:0100753	Schizophrenia
10083	USH1C	HP:0008527	Congenital sensorineural hearing impairment
10083	USH1C	HP:0008499	High hypermetropia
10083	USH1C	HP:0000639	Nystagmus
10083	USH1C	HP:0000682	Abnormal dental enamel morphology
10083	USH1C	HP:0000662	Nyctalopia
10083	USH1C	HP:0000738	Hallucinations
10083	USH1C	HP:0000739	Anxiety
10083	USH1C	HP:0000716	Depression
10083	USH1C	HP:0007730	Iris hypopigmentation
10083	USH1C	HP:0012377	Hemianopia
10083	USH1C	HP:0000375	Abnormal cochlea morphology
10083	USH1C	HP:0000407	Sensorineural hearing impairment
10083	USH1C	HP:0001756	Vestibular hypofunction
10083	USH1C	HP:0000518	Cataract
10083	USH1C	HP:0000510	Rod-cone dystrophy
10083	USH1C	HP:0000512	Abnormal electroretinogram
10083	USH1C	HP:0000575	Scotoma
10083	USH1C	HP:0000572	Visual loss
10083	USH1C	HP:0000550	Undetectable electroretinogram
10084	PQBP1	HP:0001166	Arachnodactyly
10084	PQBP1	HP:0010864	Intellectual disability, severe
10084	PQBP1	HP:0001256	Intellectual disability, mild
10084	PQBP1	HP:0001250	Seizure
10084	PQBP1	HP:0001249	Intellectual disability
10084	PQBP1	HP:0001264	Spastic diplegia
10084	PQBP1	HP:0001263	Global developmental delay
10084	PQBP1	HP:0001257	Spasticity
10084	PQBP1	HP:0008734	Decreased testicular size
10084	PQBP1	HP:0003819	Death in childhood
10084	PQBP1	HP:0000089	Renal hypoplasia
10084	PQBP1	HP:0000047	Hypospadias
10084	PQBP1	HP:0001347	Hyperreflexia
10084	PQBP1	HP:0002650	Scoliosis
10084	PQBP1	HP:0000160	Narrow mouth
10084	PQBP1	HP:0000158	Macroglossia
10084	PQBP1	HP:0000175	Cleft palate
10084	PQBP1	HP:0001419	X-linked recessive inheritance
10084	PQBP1	HP:0002023	Anal atresia
10084	PQBP1	HP:0002033	Poor suck
10084	PQBP1	HP:0002059	Cerebral atrophy
10084	PQBP1	HP:0009473	Joint contracture of the hand
10084	PQBP1	HP:0008404	Nail dystrophy
10084	PQBP1	HP:0002299	Brittle hair
10084	PQBP1	HP:0002292	Frontal balding
10084	PQBP1	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
10084	PQBP1	HP:0009765	Low hanging columella
10084	PQBP1	HP:0004209	Clinodactyly of the 5th finger
10084	PQBP1	HP:0000618	Blindness
10084	PQBP1	HP:0011359	Dry hair
10084	PQBP1	HP:0004325	Decreased body weight
10084	PQBP1	HP:0004322	Short stature
10084	PQBP1	HP:0000767	Pectus excavatum
10084	PQBP1	HP:0000739	Anxiety
10084	PQBP1	HP:0008070	Sparse hair
10084	PQBP1	HP:0000286	Epicanthus
10084	PQBP1	HP:0000275	Narrow face
10084	PQBP1	HP:0000276	Long face
10084	PQBP1	HP:0000272	Malar flattening
10084	PQBP1	HP:0001572	Macrodontia
10084	PQBP1	HP:0000252	Microcephaly
10084	PQBP1	HP:0000248	Brachycephaly
10084	PQBP1	HP:0000219	Thin upper lip vermilion
10084	PQBP1	HP:0000218	High palate
10084	PQBP1	HP:0001522	Death in infancy
10084	PQBP1	HP:0001518	Small for gestational age
10084	PQBP1	HP:0001510	Growth delay
10084	PQBP1	HP:0012385	Camptodactyly
10084	PQBP1	HP:0000378	Cupped ear
10084	PQBP1	HP:0001696	Situs inversus totalis
10084	PQBP1	HP:0000365	Hearing impairment
10084	PQBP1	HP:0000347	Micrognathia
10084	PQBP1	HP:0000327	Hypoplasia of the maxilla
10084	PQBP1	HP:0000322	Short philtrum
10084	PQBP1	HP:0000325	Triangular face
10084	PQBP1	HP:0001629	Ventricular septal defect
10084	PQBP1	HP:0001636	Tetralogy of Fallot
10084	PQBP1	HP:0001631	Atrial septal defect
10084	PQBP1	HP:0000303	Mandibular prognathia
10084	PQBP1	HP:0005338	Sparse lateral eyebrow
10084	PQBP1	HP:0000400	Macrotia
10084	PQBP1	HP:0000486	Strabismus
10084	PQBP1	HP:0001786	Narrow foot
10084	PQBP1	HP:0000414	Bulbous nose
10084	PQBP1	HP:0000411	Protruding ear
10084	PQBP1	HP:0001741	Phimosis
10084	PQBP1	HP:0000431	Wide nasal bridge
10084	PQBP1	HP:0001761	Pes cavus
10084	PQBP1	HP:0000518	Cataract
10084	PQBP1	HP:0000506	Telecanthus
10084	PQBP1	HP:0000582	Upslanted palpebral fissure
10084	PQBP1	HP:0000589	Coloboma
10084	PQBP1	HP:0000568	Microphthalmia
10084	PQBP1	HP:0000540	Hypermetropia
10087	CERT1	HP:0003763	Bruxism
10087	CERT1	HP:0001249	Intellectual disability
10087	CERT1	HP:0001263	Global developmental delay
10087	CERT1	HP:0000006	Autosomal dominant inheritance
10087	CERT1	HP:0001488	Bilateral ptosis
10087	CERT1	HP:0008936	Axial hypotonia
10087	CERT1	HP:0004691	2-3 toe syndactyly
10087	CERT1	HP:0002069	Bilateral tonic-clonic seizure
10087	CERT1	HP:0002058	Myopathic facies
10087	CERT1	HP:0002136	Broad-based gait
10087	CERT1	HP:0100704	Cerebral visual impairment
10087	CERT1	HP:0002212	Curly hair
10087	CERT1	HP:0002208	Coarse hair
10087	CERT1	HP:0002307	Drooling
10087	CERT1	HP:0000687	Widely spaced teeth
10087	CERT1	HP:0000664	Synophrys
10087	CERT1	HP:0000286	Epicanthus
10087	CERT1	HP:0001562	Oligohydramnios
10087	CERT1	HP:0000365	Hearing impairment
10087	CERT1	HP:0000319	Smooth philtrum
10087	CERT1	HP:0006610	Wide intermamillary distance
10087	CERT1	HP:0000463	Anteverted nares
10087	CERT1	HP:0001773	Short foot
10087	CERT1	HP:0005484	Secondary microcephaly
10087	CERT1	HP:0000582	Upslanted palpebral fissure
10093	ARPC4	HP:0002475	Myelomeningocele
10093	ARPC4	HP:0025161	Frequent temper tantrums
10093	ARPC4	HP:0001270	Motor delay
10093	ARPC4	HP:0001256	Intellectual disability, mild
10093	ARPC4	HP:0007380	Facial telangiectasia
10093	ARPC4	HP:0000023	Inguinal hernia
10093	ARPC4	HP:0000006	Autosomal dominant inheritance
10093	ARPC4	HP:0002650	Scoliosis
10093	ARPC4	HP:0500041	Myopic astigmatism
10093	ARPC4	HP:0000126	Hydronephrosis
10093	ARPC4	HP:0002144	Tethered cord
10093	ARPC4	HP:0002186	Apraxia
10093	ARPC4	HP:0003593	Infantile onset
10093	ARPC4	HP:0100704	Cerebral visual impairment
10093	ARPC4	HP:0100710	Impulsivity
10093	ARPC4	HP:0007018	Attention deficit hyperactivity disorder
10093	ARPC4	HP:0020046	Accommodative esotropia
10093	ARPC4	HP:0004322	Short stature
10093	ARPC4	HP:0000752	Hyperactivity
10093	ARPC4	HP:0000750	Delayed speech and language development
10093	ARPC4	HP:0000718	Aggressive behavior
10093	ARPC4	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
10093	ARPC4	HP:0000252	Microcephaly
10093	ARPC4	HP:0001642	Pulmonic stenosis
10093	ARPC4	HP:0000486	Strabismus
10093	ARPC4	HP:0000519	Developmental cataract
10093	ARPC4	HP:0000577	Exotropia
10095	ARPC1B	HP:0032229	Perinuclear antineutrophil antibody positivity
10095	ARPC1B	HP:0100827	Lymphocytosis
10095	ARPC1B	HP:0001287	Meningitis
10095	ARPC1B	HP:0002573	Hematochezia
10095	ARPC1B	HP:0025289	Cervical lymphadenopathy
10095	ARPC1B	HP:0000007	Autosomal recessive inheritance
10095	ARPC1B	HP:0002633	Vasculitis
10095	ARPC1B	HP:0002719	Recurrent infections
10095	ARPC1B	HP:0002716	Lymphadenopathy
10095	ARPC1B	HP:0002037	Inflammation of the large intestine
10095	ARPC1B	HP:0003493	Antinuclear antibody positivity
10095	ARPC1B	HP:0011896	Subconjunctival hemorrhage
10095	ARPC1B	HP:0003593	Infantile onset
10095	ARPC1B	HP:0003565	Elevated erythrocyte sedimentation rate
10095	ARPC1B	HP:0200029	Vasculitis in the skin
10095	ARPC1B	HP:0100658	Cellulitis
10095	ARPC1B	HP:0025085	Bloody diarrhea
10095	ARPC1B	HP:0005537	Decreased mean platelet volume
10095	ARPC1B	HP:0031813	Colonic eosinophilia
10095	ARPC1B	HP:0000988	Skin rash
10095	ARPC1B	HP:0001508	Failure to thrive
10095	ARPC1B	HP:0006532	Recurrent pneumonia
10095	ARPC1B	HP:0000498	Blepharitis
10095	ARPC1B	HP:0011227	Elevated circulating C-reactive protein concentration
10095	ARPC1B	HP:0001873	Thrombocytopenia
10102	TSFM	HP:0001138	Optic neuropathy
10102	TSFM	HP:0001298	Encephalopathy
10102	TSFM	HP:0001290	Generalized hypotonia
10102	TSFM	HP:0001250	Seizure
10102	TSFM	HP:0001252	Hypotonia
10102	TSFM	HP:0001251	Ataxia
10102	TSFM	HP:0001263	Global developmental delay
10102	TSFM	HP:0003819	Death in childhood
10102	TSFM	HP:0008872	Feeding difficulties in infancy
10102	TSFM	HP:0001332	Dystonia
10102	TSFM	HP:0001324	Muscle weakness
10102	TSFM	HP:0000007	Autosomal recessive inheritance
10102	TSFM	HP:0001337	Tremor
10102	TSFM	HP:0001319	Neonatal hypotonia
10102	TSFM	HP:0002033	Poor suck
10102	TSFM	HP:0100543	Cognitive impairment
10102	TSFM	HP:0002094	Dyspnea
10102	TSFM	HP:0002093	Respiratory insufficiency
10102	TSFM	HP:0002069	Bilateral tonic-clonic seizure
10102	TSFM	HP:0002151	Increased serum lactate
10102	TSFM	HP:0002119	Ventriculomegaly
10102	TSFM	HP:0011924	Decreased activity of mitochondrial complex III
10102	TSFM	HP:0011923	Decreased activity of mitochondrial complex I
10102	TSFM	HP:0002240	Hepatomegaly
10102	TSFM	HP:0008347	Decreased activity of mitochondrial complex IV
10102	TSFM	HP:0003623	Neonatal onset
10102	TSFM	HP:0004900	Severe lactic acidosis
10102	TSFM	HP:0000648	Optic atrophy
10102	TSFM	HP:0001987	Hyperammonemia
10102	TSFM	HP:0000741	Apathy
10102	TSFM	HP:0003128	Lactic acidosis
10102	TSFM	HP:0003236	Elevated circulating creatine kinase concentration
10102	TSFM	HP:0003201	Rhabdomyolysis
10102	TSFM	HP:0032653	Elevated lactate:pyruvate ratio
10102	TSFM	HP:0002878	Respiratory failure
10102	TSFM	HP:0001558	Decreased fetal movement
10102	TSFM	HP:0001522	Death in infancy
10102	TSFM	HP:0001511	Intrauterine growth retardation
10102	TSFM	HP:0002902	Hyponatremia
10102	TSFM	HP:0005157	Concentric hypertrophic cardiomyopathy
10102	TSFM	HP:0001643	Patent ductus arteriosus
10102	TSFM	HP:0001644	Dilated cardiomyopathy
10102	TSFM	HP:0001655	Patent foramen ovale
10102	TSFM	HP:0000505	Visual impairment
10108	-	HP:0001159	Syndactyly
10108	-	HP:0007328	Impaired pain sensation
10108	-	HP:0003745	Sporadic
10108	-	HP:0001290	Generalized hypotonia
10108	-	HP:0001270	Motor delay
10108	-	HP:0001250	Seizure
10108	-	HP:0001249	Intellectual disability
10108	-	HP:0002591	Polyphagia
10108	-	HP:0001263	Global developmental delay
10108	-	HP:0000064	Hypoplastic labia minora
10108	-	HP:0000060	Clitoral hypoplasia
10108	-	HP:0000044	Hypogonadotropic hypogonadism
10108	-	HP:0000046	Small scrotum
10108	-	HP:0000054	Micropenis
10108	-	HP:0001385	Hip dysplasia
10108	-	HP:0000028	Cryptorchidism
10108	-	HP:0008872	Feeding difficulties in infancy
10108	-	HP:0007513	Generalized hypopigmentation
10108	-	HP:0001328	Specific learning disability
10108	-	HP:0000006	Autosomal dominant inheritance
10108	-	HP:0002650	Scoliosis
10108	-	HP:0001319	Neonatal hypotonia
10108	-	HP:0002791	Hypoventilation
10108	-	HP:0002714	Downturned corners of mouth
10108	-	HP:0002033	Poor suck
10108	-	HP:0005968	Temperature instability
10108	-	HP:0005978	Type II diabetes mellitus
10108	-	HP:0030919	Low 5-minute APGAR score
10108	-	HP:0030918	Low 1-minute APGAR score
10108	-	HP:0009466	Radial deviation of finger
10108	-	HP:0002119	Ventriculomegaly
10108	-	HP:0010535	Sleep apnea
10108	-	HP:0003577	Congenital onset
10108	-	HP:0002236	Frontal upsweep of hair
10108	-	HP:0100716	Self-injurious behavior
10108	-	HP:0002205	Recurrent respiratory infections
10108	-	HP:0007010	Poor fine motor coordination
10108	-	HP:0007015	Poor gross motor coordination
10108	-	HP:0007018	Attention deficit hyperactivity disorder
10108	-	HP:0002360	Sleep disturbance
10108	-	HP:0001010	Hypopigmentation of the skin
10108	-	HP:0200055	Small hand
10108	-	HP:0033454	Tube feeding
10108	-	HP:0031878	Acromicria
10108	-	HP:0004283	Narrow palm
10108	-	HP:0005599	Hypopigmentation of hair
10108	-	HP:0004279	Short palm
10108	-	HP:0000670	Carious teeth
10108	-	HP:0004322	Short stature
10108	-	HP:0012743	Abdominal obesity
10108	-	HP:0000750	Delayed speech and language development
10108	-	HP:0000717	Autism
10108	-	HP:0000709	Psychosis
10108	-	HP:0011461	Fetal onset
10108	-	HP:0000789	Infertility
10108	-	HP:0000786	Primary amenorrhea
10108	-	HP:0003199	Decreased muscle mass
10108	-	HP:0000876	Oligomenorrhea
10108	-	HP:0000846	Adrenal insufficiency
10108	-	HP:0000842	Hyperinsulinemia
10108	-	HP:0000826	Precocious puberty
10108	-	HP:0000824	Decreased response to growth hormone stimulation test
10108	-	HP:0000823	Delayed puberty
10108	-	HP:0003241	External genital hypoplasia
10108	-	HP:0000992	Cutaneous photosensitivity
10108	-	HP:0000939	Osteoporosis
10108	-	HP:0000938	Osteopenia
10108	-	HP:0000268	Dolichocephaly
10108	-	HP:0007730	Iris hypopigmentation
10108	-	HP:0030084	Clinodactyly
10108	-	HP:0002808	Kyphosis
10108	-	HP:0000219	Thin upper lip vermilion
10108	-	HP:0001562	Oligohydramnios
10108	-	HP:0001561	Polyhydramnios
10108	-	HP:0001558	Decreased fetal movement
10108	-	HP:0001531	Failure to thrive in infancy
10108	-	HP:0002857	Genu valgum
10108	-	HP:0001511	Intrauterine growth retardation
10108	-	HP:0001513	Obesity
10108	-	HP:0007874	Almond-shaped palpebral fissure
10108	-	HP:0000341	Narrow forehead
10108	-	HP:0001623	Breech presentation
10108	-	HP:0000486	Strabismus
10108	-	HP:0001773	Short foot
10108	-	HP:0000446	Narrow nasal bridge
10108	-	HP:0000582	Upslanted palpebral fissure
10108	-	HP:0000565	Esotropia
10108	-	HP:0000540	Hypermetropia
10108	-	HP:0000545	Myopia
10111	RAD50	HP:0001251	Ataxia
10111	RAD50	HP:0001249	Intellectual disability
10111	RAD50	HP:0001257	Spasticity
10111	RAD50	HP:0010997	Chromosomal breakage induced by ionizing radiation
10111	RAD50	HP:0000007	Autosomal recessive inheritance
10111	RAD50	HP:0012125	Prostate cancer
10111	RAD50	HP:0100615	Ovarian neoplasm
10111	RAD50	HP:0004322	Short stature
10111	RAD50	HP:0003002	Breast carcinoma
10111	RAD50	HP:0004313	Decreased circulating antibody level
10111	RAD50	HP:0000252	Microcephaly
10111	RAD50	HP:0002894	Neoplasm of the pancreas
10111	RAD50	HP:0002861	Melanoma
10111	RAD50	HP:0001510	Growth delay
10111	RAD50	HP:0011027	Abnormal fallopian tube morphology
10111	RAD50	HP:0000320	Bird-like facies
10111	RAD50	HP:0030406	Primary peritoneal carcinoma
10111	RAD50	HP:0000540	Hypermetropia
10112	KIF20A	HP:0001297	Stroke
10112	KIF20A	HP:0001279	Syncope
10112	KIF20A	HP:0008897	Postnatal growth retardation
10112	KIF20A	HP:0000007	Autosomal recessive inheritance
10112	KIF20A	HP:0031295	Left atrial enlargement
10112	KIF20A	HP:0002094	Dyspnea
10112	KIF20A	HP:0030950	Pulmonary venous hypertension
10112	KIF20A	HP:0010444	Pulmonary insufficiency
10112	KIF20A	HP:0100598	Pulmonary edema
10112	KIF20A	HP:0034548	Portal vein hypoplasia
10112	KIF20A	HP:0002240	Hepatomegaly
10112	KIF20A	HP:0002205	Recurrent respiratory infections
10112	KIF20A	HP:0001907	Thromboembolism
10112	KIF20A	HP:0011461	Fetal onset
10112	KIF20A	HP:0012764	Orthopnea
10112	KIF20A	HP:0030718	Right atrial enlargement
10112	KIF20A	HP:4000148	Portal artery hyperplasia
10112	KIF20A	HP:0005115	Supraventricular arrhythmia
10112	KIF20A	HP:0005110	Atrial fibrillation
10112	KIF20A	HP:0031329	Interstitial cardiac fibrosis
10112	KIF20A	HP:0001522	Death in infancy
10112	KIF20A	HP:0001541	Ascites
10112	KIF20A	HP:0012398	Peripheral edema
10112	KIF20A	HP:0005180	Tricuspid regurgitation
10112	KIF20A	HP:0005162	Abnormal left ventricular function
10112	KIF20A	HP:0001642	Pulmonic stenosis
10112	KIF20A	HP:0001653	Mitral regurgitation
10112	KIF20A	HP:0001639	Hypertrophic cardiomyopathy
10112	KIF20A	HP:0001723	Restrictive cardiomyopathy
10112	KIF20A	HP:0001789	Hydrops fetalis
10117	ENAM	HP:0000007	Autosomal recessive inheritance
10117	ENAM	HP:0000006	Autosomal dominant inheritance
10117	ENAM	HP:0006285	Enamel hypomineralization
10117	ENAM	HP:0006286	Yellow-brown discoloration of the teeth
10117	ENAM	HP:0000679	Taurodontia
10117	ENAM	HP:0009102	Anterior open-bite malocclusion
10117	ENAM	HP:0000705	Amelogenesis imperfecta
10125	RASGRP1	HP:0032218	Decreased proportion of CD4-positive T cells
10125	RASGRP1	HP:0100827	Lymphocytosis
10125	RASGRP1	HP:0001250	Seizure
10125	RASGRP1	HP:0002583	Colitis
10125	RASGRP1	HP:0025289	Cervical lymphadenopathy
10125	RASGRP1	HP:0031020	Bone marrow hypercellularity
10125	RASGRP1	HP:0000083	Renal insufficiency
10125	RASGRP1	HP:0000099	Glomerulonephritis
10125	RASGRP1	HP:0025379	Anti-thyroid peroxidase antibody positivity
10125	RASGRP1	HP:0001369	Arthritis
10125	RASGRP1	HP:0002671	Basal cell carcinoma
10125	RASGRP1	HP:0000007	Autosomal recessive inheritance
10125	RASGRP1	HP:0002633	Vasculitis
10125	RASGRP1	HP:0012190	T-cell lymphoma
10125	RASGRP1	HP:0012191	B-cell lymphoma
10125	RASGRP1	HP:0012189	Hodgkin lymphoma
10125	RASGRP1	HP:0012115	Hepatitis
10125	RASGRP1	HP:0002783	Recurrent lower respiratory tract infections
10125	RASGRP1	HP:0001433	Hepatosplenomegaly
10125	RASGRP1	HP:0001402	Hepatocellular carcinoma
10125	RASGRP1	HP:0002719	Recurrent infections
10125	RASGRP1	HP:0002716	Lymphadenopathy
10125	RASGRP1	HP:0002730	Chronic noninfectious lymphadenopathy
10125	RASGRP1	HP:0002725	Systemic lupus erythematosus
10125	RASGRP1	HP:0003453	Antineutrophil antibody positivity
10125	RASGRP1	HP:0002113	Pulmonary infiltrates
10125	RASGRP1	HP:0002110	Bronchiectasis
10125	RASGRP1	HP:0003496	Increased circulating IgM level
10125	RASGRP1	HP:0003493	Antinuclear antibody positivity
10125	RASGRP1	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells
10125	RASGRP1	HP:0008209	Premature ovarian insufficiency
10125	RASGRP1	HP:0002240	Hepatomegaly
10125	RASGRP1	HP:0002206	Pulmonary fibrosis
10125	RASGRP1	HP:0010702	Increased circulating antibody level
10125	RASGRP1	HP:0100721	Mediastinal lymphadenopathy
10125	RASGRP1	HP:0100759	Clubbing of fingers
10125	RASGRP1	HP:0010619	Fibroadenoma of the breast
10125	RASGRP1	HP:0032069	Anti-thyroglobulin antibody positivity
10125	RASGRP1	HP:0004844	Coombs-positive hemolytic anemia
10125	RASGRP1	HP:0001025	Urticaria
10125	RASGRP1	HP:0002315	Headache
10125	RASGRP1	HP:0100648	Neoplasm of the tongue
10125	RASGRP1	HP:0100646	Thyroiditis
10125	RASGRP1	HP:0003613	Antiphospholipid antibody positivity
10125	RASGRP1	HP:0005528	Bone marrow hypocellularity
10125	RASGRP1	HP:0001971	Hypersplenism
10125	RASGRP1	HP:0001973	Autoimmune thrombocytopenia
10125	RASGRP1	HP:0001923	Reticulocytosis
10125	RASGRP1	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
10125	RASGRP1	HP:0004315	Decreased circulating IgG level
10125	RASGRP1	HP:0030782	Abnormal circulating interleukin concentration
10125	RASGRP1	HP:0040126	Abnormal vitamin B12 level
10125	RASGRP1	HP:0000854	Thyroid adenoma
10125	RASGRP1	HP:0003237	Increased circulating IgG level
10125	RASGRP1	HP:0003212	Increased circulating IgE level
10125	RASGRP1	HP:0003261	Increased circulating IgA level
10125	RASGRP1	HP:0000978	Bruising susceptibility
10125	RASGRP1	HP:0008069	Neoplasm of the skin
10125	RASGRP1	HP:0031392	Abnormal proportion of CD4-positive T cells
10125	RASGRP1	HP:0031393	Abnormal proportion of CD8-positive T cells
10125	RASGRP1	HP:0031394	Abnormal CD4:CD8 ratio
10125	RASGRP1	HP:0030080	Burkitt lymphoma
10125	RASGRP1	HP:0002890	Thyroid carcinoma
10125	RASGRP1	HP:0001508	Failure to thrive
10125	RASGRP1	HP:0002850	Decreased circulating total IgM
10125	RASGRP1	HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
10125	RASGRP1	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
10125	RASGRP1	HP:0002848	Decreased specific anti-polysaccharide antibody level
10125	RASGRP1	HP:0005263	Gastritis
10125	RASGRP1	HP:0002923	Rheumatoid factor positive
10125	RASGRP1	HP:0002960	Autoimmunity
10125	RASGRP1	HP:0012490	Panniculitis
10125	RASGRP1	HP:0001789	Hydrops fetalis
10125	RASGRP1	HP:0011107	Recurrent aphthous stomatitis
10125	RASGRP1	HP:0030253	Defective T cell proliferation
10125	RASGRP1	HP:0001744	Splenomegaly
10125	RASGRP1	HP:0005407	Decreased proportion of CD4-positive helper T cells
10125	RASGRP1	HP:0005404	Increased B cell count
10125	RASGRP1	HP:0001892	Abnormal bleeding
10125	RASGRP1	HP:0001890	Autoimmune hemolytic anemia
10125	RASGRP1	HP:0001888	Lymphopenia
10125	RASGRP1	HP:0000554	Uveitis
10125	RASGRP1	HP:0012539	Non-Hodgkin lymphoma
10125	RASGRP1	HP:0001880	Eosinophilia
10126	DNAL4	HP:0002492	Morphological abnormality of the corticospinal tract
10126	DNAL4	HP:0025101	Dysgenesis of the hippocampus
10126	DNAL4	HP:0001274	Agenesis of corpus callosum
10126	DNAL4	HP:0001256	Intellectual disability, mild
10126	DNAL4	HP:0000044	Hypogonadotropic hypogonadism
10126	DNAL4	HP:0001328	Specific learning disability
10126	DNAL4	HP:0000007	Autosomal recessive inheritance
10126	DNAL4	HP:0001335	Bimanual synkinesia
10126	DNAL4	HP:0003326	Myalgia
10126	DNAL4	HP:0003388	Easy fatigability
10126	DNAL4	HP:0007010	Poor fine motor coordination
10126	DNAL4	HP:0002312	Clumsiness
10126	DNAL4	HP:0100021	Cerebral palsy
10126	DNAL4	HP:0100022	Abnormality of movement
10126	DNAL4	HP:0002949	Fused cervical vertebrae
10126	DNAL4	HP:0001696	Situs inversus totalis
10128	LRPPRC	HP:0025116	Fetal distress
10128	LRPPRC	HP:0002490	Increased CSF lactate
10128	LRPPRC	HP:0002465	Poor speech
10128	LRPPRC	HP:0007325	Generalized dystonia
10128	LRPPRC	HP:0007305	CNS demyelination
10128	LRPPRC	HP:0010883	Aortic valve atresia
10128	LRPPRC	HP:0009879	Simplified gyral pattern
10128	LRPPRC	HP:0002401	Stroke-like episode
10128	LRPPRC	HP:0001298	Encephalopathy
10128	LRPPRC	HP:0001290	Generalized hypotonia
10128	LRPPRC	HP:0001250	Seizure
10128	LRPPRC	HP:0001252	Hypotonia
10128	LRPPRC	HP:0001251	Ataxia
10128	LRPPRC	HP:0001263	Global developmental delay
10128	LRPPRC	HP:0001257	Spasticity
10128	LRPPRC	HP:0002540	Inability to walk
10128	LRPPRC	HP:0002553	Highly arched eyebrow
10128	LRPPRC	HP:0001397	Hepatic steatosis
10128	LRPPRC	HP:0000047	Hypospadias
10128	LRPPRC	HP:0000023	Inguinal hernia
10128	LRPPRC	HP:0001332	Dystonia
10128	LRPPRC	HP:0001324	Muscle weakness
10128	LRPPRC	HP:0001338	Partial agenesis of the corpus callosum
10128	LRPPRC	HP:0000007	Autosomal recessive inheritance
10128	LRPPRC	HP:0001337	Tremor
10128	LRPPRC	HP:0001310	Dysmetria
10128	LRPPRC	HP:0001320	Cerebellar vermis hypoplasia
10128	LRPPRC	HP:0002789	Tachypnea
10128	LRPPRC	HP:0001410	Decreased liver function
10128	LRPPRC	HP:0001414	Microvesicular hepatic steatosis
10128	LRPPRC	HP:0002020	Gastroesophageal reflux
10128	LRPPRC	HP:0002015	Dysphagia
10128	LRPPRC	HP:0002013	Vomiting
10128	LRPPRC	HP:0011800	Midface retrusion
10128	LRPPRC	HP:0002060	Abnormal cerebral morphology
10128	LRPPRC	HP:0002078	Truncal ataxia
10128	LRPPRC	HP:0002072	Chorea
10128	LRPPRC	HP:0100598	Pulmonary edema
10128	LRPPRC	HP:0002151	Increased serum lactate
10128	LRPPRC	HP:0002197	Generalized-onset seizure
10128	LRPPRC	HP:0002171	Gliosis
10128	LRPPRC	HP:0010536	Central sleep apnea
10128	LRPPRC	HP:0003593	Infantile onset
10128	LRPPRC	HP:0003577	Congenital onset
10128	LRPPRC	HP:0004898	Persistent lactic acidosis
10128	LRPPRC	HP:0008347	Decreased activity of mitochondrial complex IV
10128	LRPPRC	HP:0011968	Feeding difficulties
10128	LRPPRC	HP:0033379	Bilateral superior vena cava
10128	LRPPRC	HP:0020045	Esodeviation
10128	LRPPRC	HP:0003688	Cytochrome C oxidase-negative muscle fibers
10128	LRPPRC	HP:0002376	Developmental regression
10128	LRPPRC	HP:0002344	Progressive neurologic deterioration
10128	LRPPRC	HP:0001007	Hirsutism
10128	LRPPRC	HP:0003645	Prolonged partial thromboplastin time
10128	LRPPRC	HP:0010841	Multifocal epileptiform discharges
10128	LRPPRC	HP:0100660	Dyskinesia
10128	LRPPRC	HP:0009830	Peripheral neuropathy
10128	LRPPRC	HP:0003623	Neonatal onset
10128	LRPPRC	HP:0002310	Orofacial dyskinesia
10128	LRPPRC	HP:0007183	Focal T2 hyperintense basal ganglia lesion
10128	LRPPRC	HP:0004900	Severe lactic acidosis
10128	LRPPRC	HP:0005599	Hypopigmentation of hair
10128	LRPPRC	HP:0000639	Nystagmus
10128	LRPPRC	HP:0001943	Hypoglycemia
10128	LRPPRC	HP:0001946	Ketosis
10128	LRPPRC	HP:0001942	Metabolic acidosis
10128	LRPPRC	HP:0001987	Hyperammonemia
10128	LRPPRC	HP:0001999	Abnormal facial shape
10128	LRPPRC	HP:0003074	Hyperglycemia
10128	LRPPRC	HP:0100022	Abnormality of movement
10128	LRPPRC	HP:0000750	Delayed speech and language development
10128	LRPPRC	HP:0011471	Gastrostomy tube feeding in infancy
10128	LRPPRC	HP:0003128	Lactic acidosis
10128	LRPPRC	HP:0000822	Hypertension
10128	LRPPRC	HP:0011560	Mitral atresia
10128	LRPPRC	HP:0033044	Motor regression
10128	LRPPRC	HP:0000294	Low anterior hairline
10128	LRPPRC	HP:0000272	Malar flattening
10128	LRPPRC	HP:0012243	Abnormal reproductive system morphology
10128	LRPPRC	HP:0000252	Microcephaly
10128	LRPPRC	HP:0000248	Brachycephaly
10128	LRPPRC	HP:0002878	Respiratory failure
10128	LRPPRC	HP:0001545	Anteriorly placed anus
10128	LRPPRC	HP:0001522	Death in infancy
10128	LRPPRC	HP:0002870	Obstructive sleep apnea
10128	LRPPRC	HP:0001508	Failure to thrive
10128	LRPPRC	HP:0001518	Small for gestational age
10128	LRPPRC	HP:0011096	Peripheral demyelination
10128	LRPPRC	HP:0012379	Abnormal circulating enzyme concentration or activity
10128	LRPPRC	HP:0006565	Increased hepatocellular lipid droplets
10128	LRPPRC	HP:0002919	Ketonuria
10128	LRPPRC	HP:0000369	Low-set ears
10128	LRPPRC	HP:0001680	Coarctation of aorta
10128	LRPPRC	HP:0000347	Micrognathia
10128	LRPPRC	HP:0001647	Bicuspid aortic valve
10128	LRPPRC	HP:0000316	Hypertelorism
10128	LRPPRC	HP:0001653	Mitral regurgitation
10128	LRPPRC	HP:0001627	Abnormal heart morphology
10128	LRPPRC	HP:0001639	Hypertrophic cardiomyopathy
10128	LRPPRC	HP:0001635	Congestive heart failure
10128	LRPPRC	HP:0001712	Left ventricular hypertrophy
10128	LRPPRC	HP:0000486	Strabismus
10128	LRPPRC	HP:0000463	Anteverted nares
10128	LRPPRC	HP:0000474	Thickened nuchal skin fold
10128	LRPPRC	HP:0000431	Wide nasal bridge
10128	LRPPRC	HP:0011220	Prominent forehead
10128	LRPPRC	HP:0011203	EEG with abnormally slow frequencies
10128	LRPPRC	HP:0000565	Esotropia
10133	OPTN	HP:0001260	Dysarthria
10133	OPTN	HP:0001257	Spasticity
10133	OPTN	HP:0007373	Motor neuron atrophy
10133	OPTN	HP:0007354	Amyotrophic lateral sclerosis
10133	OPTN	HP:0002505	Loss of ambulation
10133	OPTN	HP:0001324	Muscle weakness
10133	OPTN	HP:0000007	Autosomal recessive inheritance
10133	OPTN	HP:0000006	Autosomal dominant inheritance
10133	OPTN	HP:0001308	Tongue fasciculations
10133	OPTN	HP:0025425	Laryngospasm
10133	OPTN	HP:0012108	Open angle glaucoma
10133	OPTN	HP:0002795	Abnormal respiratory system physiology
10133	OPTN	HP:0002017	Nausea and vomiting
10133	OPTN	HP:0002015	Dysphagia
10133	OPTN	HP:0003324	Generalized muscle weakness
10133	OPTN	HP:0002094	Dyspnea
10133	OPTN	HP:0003394	Muscle spasm
10133	OPTN	HP:0003470	Paralysis
10133	OPTN	HP:0002180	Neurodegeneration
10133	OPTN	HP:0003596	Middle age onset
10133	OPTN	HP:0003584	Late onset
10133	OPTN	HP:0002380	Fasciculations
10133	OPTN	HP:0003676	Progressive
10133	OPTN	HP:0000739	Anxiety
10133	OPTN	HP:0000716	Depression
10133	OPTN	HP:0000712	Emotional lability
10133	OPTN	HP:0000713	Agitation
10133	OPTN	HP:0011462	Young adult onset
10133	OPTN	HP:0003202	Skeletal muscle atrophy
10133	OPTN	HP:0000217	Xerostomia
10133	OPTN	HP:0002878	Respiratory failure
10133	OPTN	HP:0030007	EMG: positive sharp waves
10133	OPTN	HP:0012378	Fatigue
10133	OPTN	HP:0030196	Fatigable weakness of respiratory muscles
10133	OPTN	HP:0030195	Fatigable weakness of swallowing muscles
10133	OPTN	HP:0030192	Fatigable weakness of bulbar muscles
10133	OPTN	HP:0012473	Tongue atrophy
10133	OPTN	HP:0012531	Pain
10133	OPTN	HP:0000545	Myopia
10134	BCAP31	HP:0002445	Tetraplegia
10134	BCAP31	HP:0007256	Abnormal pyramidal sign
10134	BCAP31	HP:0010864	Intellectual disability, severe
10134	BCAP31	HP:0001272	Cerebellar atrophy
10134	BCAP31	HP:0001250	Seizure
10134	BCAP31	HP:0001263	Global developmental delay
10134	BCAP31	HP:0007371	Corpus callosum atrophy
10134	BCAP31	HP:0001332	Dystonia
10134	BCAP31	HP:0001419	X-linked recessive inheritance
10134	BCAP31	HP:0002059	Cerebral atrophy
10134	BCAP31	HP:0002120	Cerebral cortical atrophy
10134	BCAP31	HP:0003429	CNS hypomyelination
10134	BCAP31	HP:0003593	Infantile onset
10134	BCAP31	HP:0003577	Congenital onset
10134	BCAP31	HP:0006808	Cerebral hypomyelination
10134	BCAP31	HP:0000648	Optic atrophy
10134	BCAP31	HP:0001954	Recurrent fever
10134	BCAP31	HP:0001999	Abnormal facial shape
10134	BCAP31	HP:0000752	Hyperactivity
10134	BCAP31	HP:0000718	Aggressive behavior
10134	BCAP31	HP:0012762	Cerebral white matter atrophy
10134	BCAP31	HP:0000252	Microcephaly
10134	BCAP31	HP:0001508	Failure to thrive
10134	BCAP31	HP:0001511	Intrauterine growth retardation
10134	BCAP31	HP:0000365	Hearing impairment
10134	BCAP31	HP:0000407	Sensorineural hearing impairment
10134	BCAP31	HP:0000486	Strabismus
10134	BCAP31	HP:0000496	Abnormality of eye movement
10134	BCAP31	HP:0012444	Brain atrophy
10137	RBM12	HP:0003829	Typified by incomplete penetrance
10137	RBM12	HP:0000006	Autosomal dominant inheritance
10137	RBM12	HP:0100543	Cognitive impairment
10137	RBM12	HP:0100753	Schizophrenia
10142	AKAP9	HP:0001197	Abnormality of prenatal development or birth
10142	AKAP9	HP:0001279	Syncope
10142	AKAP9	HP:0001250	Seizure
10142	AKAP9	HP:0000006	Autosomal dominant inheritance
10142	AKAP9	HP:0500018	Abnormal cardiac exercise stress test
10142	AKAP9	HP:0011715	Trifascicular block
10142	AKAP9	HP:0011712	Right bundle branch block
10142	AKAP9	HP:0011704	Sick sinus syndrome
10142	AKAP9	HP:0011705	First degree atrioventricular block
10142	AKAP9	HP:0004755	Supraventricular tachycardia
10142	AKAP9	HP:0004751	Paroxysmal ventricular tachycardia
10142	AKAP9	HP:0003621	Juvenile onset
10142	AKAP9	HP:0004308	Ventricular arrhythmia
10142	AKAP9	HP:0012251	ST segment elevation
10142	AKAP9	HP:0005135	Abnormal T-wave
10142	AKAP9	HP:0005184	Prolonged QTc interval
10142	AKAP9	HP:0002900	Hypokalemia
10142	AKAP9	HP:0000365	Hearing impairment
10142	AKAP9	HP:0001695	Cardiac arrest
10142	AKAP9	HP:0001688	Sinus bradycardia
10142	AKAP9	HP:0012332	Abnormal autonomic nervous system physiology
10142	AKAP9	HP:0001664	Torsade de pointes
10142	AKAP9	HP:0001649	Tachycardia
10142	AKAP9	HP:0001645	Sudden cardiac death
10142	AKAP9	HP:0001663	Ventricular fibrillation
10144	FAM13A	HP:0025175	Honeycomb lung
10144	FAM13A	HP:0025179	Ground-glass opacification
10144	FAM13A	HP:0025390	Reticular pattern on pulmonary HRCT
10144	FAM13A	HP:0002020	Gastroesophageal reflux
10144	FAM13A	HP:0010444	Pulmonary insufficiency
10144	FAM13A	HP:0002110	Bronchiectasis
10144	FAM13A	HP:0002206	Pulmonary fibrosis
10144	FAM13A	HP:0100759	Clubbing of fingers
10144	FAM13A	HP:0012735	Cough
10144	FAM13A	HP:0030830	Crackles
10144	FAM13A	HP:0002875	Exertional dyspnea
10144	FAM13A	HP:0006530	Abnormal pulmonary interstitial morphology
10149	ADGRG2	HP:0000027	Azoospermia
10149	ADGRG2	HP:0001417	X-linked inheritance
10149	ADGRG2	HP:0011962	Obstructive azoospermia
10149	ADGRG2	HP:0011462	Young adult onset
10149	ADGRG2	HP:0000798	Oligospermia
10149	ADGRG2	HP:0012873	Absent vas deferens
10149	ADGRG2	HP:0003251	Male infertility
10149	ADGRG2	HP:0012210	Abnormal renal morphology
10155	TRIM28	HP:0002664	Neoplasm
10155	TRIM28	HP:0002667	Nephroblastoma
10155	TRIM28	HP:0002716	Lymphadenopathy
10155	TRIM28	HP:0002027	Abdominal pain
10155	TRIM28	HP:0100526	Neoplasm of the lung
10155	TRIM28	HP:0001945	Fever
10155	TRIM28	HP:0000790	Hematuria
10155	TRIM28	HP:0000822	Hypertension
10155	TRIM28	HP:0002896	Neoplasm of the liver
10155	TRIM28	HP:0000526	Aniridia
10155	TRIM28	HP:0001824	Weight loss
10157	AASS	HP:0500163	Hypoornithinemia
10157	AASS	HP:0500151	Hypercystinemia
10157	AASS	HP:0008589	Hypoplastic helices
10157	AASS	HP:0010850	EEG with spike-wave complexes
10157	AASS	HP:0001268	Mental deterioration
10157	AASS	HP:0001285	Spastic tetraparesis
10157	AASS	HP:0001256	Intellectual disability, mild
10157	AASS	HP:0001250	Seizure
10157	AASS	HP:0001252	Hypotonia
10157	AASS	HP:0001249	Intellectual disability
10157	AASS	HP:0001264	Spastic diplegia
10157	AASS	HP:0001263	Global developmental delay
10157	AASS	HP:0032397	Citrullinuria
10157	AASS	HP:0500204	Decreased CSF arginine concentration
10157	AASS	HP:0500243	Abnormal CSF ornithine concentration
10157	AASS	HP:0500208	Increased CSF lysine concentration
10157	AASS	HP:0025331	Upgaze palsy
10157	AASS	HP:0001348	Brisk reflexes
10157	AASS	HP:0001363	Craniosynostosis
10157	AASS	HP:0000007	Autosomal recessive inheritance
10157	AASS	HP:0001337	Tremor
10157	AASS	HP:0001310	Dysmetria
10157	AASS	HP:0008947	Infantile muscular hypotonia
10157	AASS	HP:0002020	Gastroesophageal reflux
10157	AASS	HP:0002033	Poor suck
10157	AASS	HP:0002015	Dysphagia
10157	AASS	HP:0002013	Vomiting
10157	AASS	HP:0100543	Cognitive impairment
10157	AASS	HP:0002066	Gait ataxia
10157	AASS	HP:0040288	Nasogastric tube feeding
10157	AASS	HP:0002161	Hyperlysinemia
10157	AASS	HP:0002179	Opisthotonus
10157	AASS	HP:0003593	Infantile onset
10157	AASS	HP:0002275	Poor motor coordination
10157	AASS	HP:0009739	Hypoplasia of the antihelix
10157	AASS	HP:0011968	Feeding difficulties
10157	AASS	HP:0011966	Elevated plasma citrulline
10157	AASS	HP:0001083	Ectopia lentis
10157	AASS	HP:0002312	Clumsiness
10157	AASS	HP:0004971	Pulmonary artery hypoplasia
10157	AASS	HP:0031867	Neck hypertonia
10157	AASS	HP:0006889	Intellectual disability, borderline
10157	AASS	HP:0000601	Hypotelorism
10157	AASS	HP:0001903	Anemia
10157	AASS	HP:0011342	Mild global developmental delay
10157	AASS	HP:0001987	Hyperammonemia
10157	AASS	HP:0001999	Abnormal facial shape
10157	AASS	HP:0004322	Short stature
10157	AASS	HP:0000752	Hyperactivity
10157	AASS	HP:0100022	Abnormality of movement
10157	AASS	HP:0000736	Short attention span
10157	AASS	HP:0000750	Delayed speech and language development
10157	AASS	HP:0000708	Atypical behavior
10157	AASS	HP:0012758	Neurodevelopmental delay
10157	AASS	HP:0003131	Cystinuria
10157	AASS	HP:0003297	Hyperlysinuria
10157	AASS	HP:0045074	Thin eyebrow
10157	AASS	HP:0003268	Argininuria
10157	AASS	HP:0000252	Microcephaly
10157	AASS	HP:0000218	High palate
10157	AASS	HP:0001508	Failure to thrive
10157	AASS	HP:0001507	Growth abnormality
10157	AASS	HP:0030051	Tip-toe gait
10157	AASS	HP:0012379	Abnormal circulating enzyme concentration or activity
10157	AASS	HP:0006532	Recurrent pneumonia
10157	AASS	HP:0002936	Distal sensory impairment
10157	AASS	HP:0011021	Abnormality of circulating enzyme level
10157	AASS	HP:0000319	Smooth philtrum
10157	AASS	HP:0011171	Simple febrile seizure
10157	AASS	HP:0000486	Strabismus
10157	AASS	HP:0000457	Depressed nasal ridge
10157	AASS	HP:0012403	Decreased urine alpha-ketoglutarate concentration
10159	ATP6AP2	HP:0032218	Decreased proportion of CD4-positive T cells
10159	ATP6AP2	HP:0001272	Cerebellar atrophy
10159	ATP6AP2	HP:0001270	Motor delay
10159	ATP6AP2	HP:0001288	Gait disturbance
10159	ATP6AP2	HP:0001250	Seizure
10159	ATP6AP2	HP:0001249	Intellectual disability
10159	ATP6AP2	HP:0001265	Hyporeflexia
10159	ATP6AP2	HP:0001263	Global developmental delay
10159	ATP6AP2	HP:0001257	Spasticity
10159	ATP6AP2	HP:0002540	Inability to walk
10159	ATP6AP2	HP:0002527	Falls
10159	ATP6AP2	HP:0002506	Diffuse cerebral atrophy
10159	ATP6AP2	HP:0001397	Hepatic steatosis
10159	ATP6AP2	HP:0000047	Hypospadias
10159	ATP6AP2	HP:0001350	Slurred speech
10159	ATP6AP2	HP:0001347	Hyperreflexia
10159	ATP6AP2	HP:0033725	Thin corpus callosum
10159	ATP6AP2	HP:0001310	Dysmetria
10159	ATP6AP2	HP:0002650	Scoliosis
10159	ATP6AP2	HP:0001300	Parkinsonism
10159	ATP6AP2	HP:0002600	Hyporeflexia of lower limbs
10159	ATP6AP2	HP:0001410	Decreased liver function
10159	ATP6AP2	HP:0001419	X-linked recessive inheritance
10159	ATP6AP2	HP:0001413	Micronodular cirrhosis
10159	ATP6AP2	HP:0002719	Recurrent infections
10159	ATP6AP2	HP:0011812	Agraphesthesia
10159	ATP6AP2	HP:0002069	Bilateral tonic-clonic seizure
10159	ATP6AP2	HP:0002067	Bradykinesia
10159	ATP6AP2	HP:0002063	Rigidity
10159	ATP6AP2	HP:0002079	Hypoplasia of the corpus callosum
10159	ATP6AP2	HP:0002059	Cerebral atrophy
10159	ATP6AP2	HP:0003487	Babinski sign
10159	ATP6AP2	HP:0003438	Absent Achilles reflex
10159	ATP6AP2	HP:0002188	Delayed CNS myelination
10159	ATP6AP2	HP:0002186	Apraxia
10159	ATP6AP2	HP:0010529	Echolalia
10159	ATP6AP2	HP:0010527	Astereognosia
10159	ATP6AP2	HP:0003596	Middle age onset
10159	ATP6AP2	HP:0003593	Infantile onset
10159	ATP6AP2	HP:0002240	Hepatomegaly
10159	ATP6AP2	HP:0007082	Dilated third ventricle
10159	ATP6AP2	HP:0007076	Extrapyramidal muscular rigidity
10159	ATP6AP2	HP:0002396	Cogwheel rigidity
10159	ATP6AP2	HP:0002359	Frequent falls
10159	ATP6AP2	HP:0002345	Action tremor
10159	ATP6AP2	HP:0003677	Slowly progressive
10159	ATP6AP2	HP:0002322	Resting tremor
10159	ATP6AP2	HP:0002317	Unsteady gait
10159	ATP6AP2	HP:0002313	Spastic paraparesis
10159	ATP6AP2	HP:0010819	Atonic seizure
10159	ATP6AP2	HP:0003623	Neonatal onset
10159	ATP6AP2	HP:0002307	Drooling
10159	ATP6AP2	HP:0003621	Juvenile onset
10159	ATP6AP2	HP:0006801	Hyperactive deep tendon reflexes
10159	ATP6AP2	HP:0006956	Lateral ventricle dilatation
10159	ATP6AP2	HP:0004313	Decreased circulating antibody level
10159	ATP6AP2	HP:0000750	Delayed speech and language development
10159	ATP6AP2	HP:0011448	Ankle clonus
10159	ATP6AP2	HP:0000973	Cutis laxa
10159	ATP6AP2	HP:0000952	Jaundice
10159	ATP6AP2	HP:0000298	Mask-like facies
10159	ATP6AP2	HP:0001541	Ascites
10159	ATP6AP2	HP:0001513	Obesity
10159	ATP6AP2	HP:0012391	Hyporeflexia of upper limbs
10159	ATP6AP2	HP:0002910	Elevated hepatic transaminase
10159	ATP6AP2	HP:0000369	Low-set ears
10159	ATP6AP2	HP:0000341	Narrow forehead
10159	ATP6AP2	HP:0000338	Hypomimic face
10159	ATP6AP2	HP:0000347	Micrognathia
10159	ATP6AP2	HP:0012301	Type II transferrin isoform profile
10159	ATP6AP2	HP:0001621	Weak voice
10159	ATP6AP2	HP:0031629	Impaired tandem gait
10159	ATP6AP2	HP:0001712	Left ventricular hypertrophy
10159	ATP6AP2	HP:0001763	Pes planus
10159	ATP6AP2	HP:0012407	Scissor gait
10159	ATP6AP2	HP:0025709	Intermediate young adult onset
10159	ATP6AP2	HP:0001848	Calcaneovalgus deformity
10161	LPAR6	HP:0025249	Comedo
10161	LPAR6	HP:0000007	Autosomal recessive inheritance
10161	LPAR6	HP:0000164	Abnormality of the dentition
10161	LPAR6	HP:0003577	Congenital onset
10161	LPAR6	HP:0002224	Woolly hair
10161	LPAR6	HP:0002217	Slow-growing hair
10161	LPAR6	HP:0002215	Sparse axillary hair
10161	LPAR6	HP:0002231	Sparse body hair
10161	LPAR6	HP:0002213	Fine hair
10161	LPAR6	HP:0002209	Sparse scalp hair
10161	LPAR6	HP:0002208	Coarse hair
10161	LPAR6	HP:0010719	Abnormality of hair texture
10161	LPAR6	HP:0002286	Fair hair
10161	LPAR6	HP:0002299	Brittle hair
10161	LPAR6	HP:0005599	Hypopigmentation of hair
10161	LPAR6	HP:0000615	Abnormal pupil morphology
10161	LPAR6	HP:0011359	Dry hair
10161	LPAR6	HP:0000653	Sparse eyelashes
10161	LPAR6	HP:0045075	Sparse eyebrow
10161	LPAR6	HP:0000975	Hyperhidrosis
10161	LPAR6	HP:0000971	Abnormal sweat gland morphology
10161	LPAR6	HP:0008070	Sparse hair
10161	LPAR6	HP:0001596	Alopecia
10161	LPAR6	HP:0005338	Sparse lateral eyebrow
10161	LPAR6	HP:0000486	Strabismus
10161	LPAR6	HP:0000479	Abnormal retinal morphology
10161	LPAR6	HP:0000518	Cataract
10161	LPAR6	HP:0001807	Ridged nail
10161	LPAR6	HP:0001803	Nail pits
10165	SLC25A13	HP:0002480	Hepatic encephalopathy
10165	SLC25A13	HP:0010916	Abnormal circulating alanine concentration
10165	SLC25A13	HP:0010903	Abnormal circulating glutamine concentration
10165	SLC25A13	HP:0010909	Abnormal circulating arginine concentration
10165	SLC25A13	HP:0500153	Hyperargininemia
10165	SLC25A13	HP:0001289	Confusion
10165	SLC25A13	HP:0001254	Lethargy
10165	SLC25A13	HP:0001250	Seizure
10165	SLC25A13	HP:0001263	Global developmental delay
10165	SLC25A13	HP:0001259	Coma
10165	SLC25A13	HP:0001397	Hepatic steatosis
10165	SLC25A13	HP:0001396	Cholestasis
10165	SLC25A13	HP:0001395	Hepatic fibrosis
10165	SLC25A13	HP:0001394	Cirrhosis
10165	SLC25A13	HP:0012024	Hypergalactosemia
10165	SLC25A13	HP:0000007	Autosomal recessive inheritance
10165	SLC25A13	HP:0001337	Tremor
10165	SLC25A13	HP:0012164	Asterixis
10165	SLC25A13	HP:0025435	Increased circulating lactate dehydrogenase concentration
10165	SLC25A13	HP:0006254	Elevated circulating alpha-fetoprotein concentration
10165	SLC25A13	HP:0001433	Hepatosplenomegaly
10165	SLC25A13	HP:0001406	Intrahepatic cholestasis
10165	SLC25A13	HP:0001403	Macrovesicular hepatic steatosis
10165	SLC25A13	HP:0001402	Hepatocellular carcinoma
10165	SLC25A13	HP:0001414	Microvesicular hepatic steatosis
10165	SLC25A13	HP:0031258	Delirium
10165	SLC25A13	HP:0003354	Hyperthreoninemia
10165	SLC25A13	HP:0040301	Increased urinary glycerol
10165	SLC25A13	HP:0002014	Diarrhea
10165	SLC25A13	HP:0002013	Vomiting
10165	SLC25A13	HP:0033193	Ballooning hepatocyte degeneration
10165	SLC25A13	HP:0033196	Portal inflammation
10165	SLC25A13	HP:0030948	Elevated gamma-glutamyltransferase level
10165	SLC25A13	HP:0008151	Prolonged prothrombin time
10165	SLC25A13	HP:0002155	Hypertriglyceridemia
10165	SLC25A13	HP:0002181	Cerebral edema
10165	SLC25A13	HP:0002161	Hyperlysinemia
10165	SLC25A13	HP:0010529	Echolalia
10165	SLC25A13	HP:0008281	Acute hyperammonemia
10165	SLC25A13	HP:0002240	Hepatomegaly
10165	SLC25A13	HP:0002239	Gastrointestinal hemorrhage
10165	SLC25A13	HP:0003581	Adult onset
10165	SLC25A13	HP:0100785	Insomnia
10165	SLC25A13	HP:0100738	Abnormal eating behavior
10165	SLC25A13	HP:0100754	Mania
10165	SLC25A13	HP:0011966	Elevated plasma citrulline
10165	SLC25A13	HP:0002360	Sleep disturbance
10165	SLC25A13	HP:0002354	Memory impairment
10165	SLC25A13	HP:0002329	Drowsiness
10165	SLC25A13	HP:0007159	Fluctuations in consciousness
10165	SLC25A13	HP:0003623	Neonatal onset
10165	SLC25A13	HP:0001903	Anemia
10165	SLC25A13	HP:0001987	Hyperammonemia
10165	SLC25A13	HP:0031956	Elevated circulating aspartate aminotransferase concentration
10165	SLC25A13	HP:0031964	Elevated circulating alanine aminotransferase concentration
10165	SLC25A13	HP:0004313	Decreased circulating antibody level
10165	SLC25A13	HP:0003077	Hyperlipidemia
10165	SLC25A13	HP:0003075	Hypoproteinemia
10165	SLC25A13	HP:0003073	Hypoalbuminemia
10165	SLC25A13	HP:0000805	Enuresis
10165	SLC25A13	HP:0004396	Poor appetite
10165	SLC25A13	HP:0000752	Hyperactivity
10165	SLC25A13	HP:0000738	Hallucinations
10165	SLC25A13	HP:0000737	Irritability
10165	SLC25A13	HP:0000746	Delusions
10165	SLC25A13	HP:0000718	Aggressive behavior
10165	SLC25A13	HP:0000711	Restlessness
10165	SLC25A13	HP:0000709	Psychosis
10165	SLC25A13	HP:0003124	Hypercholesterolemia
10165	SLC25A13	HP:0003119	Abnormal circulating lipid concentration
10165	SLC25A13	HP:0030765	Sleep terror
10165	SLC25A13	HP:0003155	Elevated circulating alkaline phosphatase concentration
10165	SLC25A13	HP:0003128	Lactic acidosis
10165	SLC25A13	HP:0003141	Increased LDL cholesterol concentration
10165	SLC25A13	HP:0003235	Hypermethioninemia
10165	SLC25A13	HP:0003233	Decreased HDL cholesterol concentration
10165	SLC25A13	HP:0003231	Hypertyrosinemia
10165	SLC25A13	HP:0045082	Decreased body mass index
10165	SLC25A13	HP:0000952	Jaundice
10165	SLC25A13	HP:0012278	Abnormal circulating serine concentration
10165	SLC25A13	HP:0012202	Increased serum bile acid concentration
10165	SLC25A13	HP:0001531	Failure to thrive in infancy
10165	SLC25A13	HP:0001508	Failure to thrive
10165	SLC25A13	HP:0001511	Intrauterine growth retardation
10165	SLC25A13	HP:0001510	Growth delay
10165	SLC25A13	HP:0006580	Portal fibrosis
10165	SLC25A13	HP:0002919	Ketonuria
10165	SLC25A13	HP:0002910	Elevated hepatic transaminase
10165	SLC25A13	HP:0002908	Conjugated hyperbilirubinemia
10165	SLC25A13	HP:0002904	Hyperbilirubinemia
10165	SLC25A13	HP:0025630	Argininosuccinic aciduria
10165	SLC25A13	HP:0030166	Night sweats
10165	SLC25A13	HP:0001733	Pancreatitis
10165	SLC25A13	HP:0000518	Cataract
10165	SLC25A13	HP:0012569	Delayed menarche
10165	SLC25A13	HP:0001892	Abnormal bleeding
10166	SLC25A15	HP:0002495	Impaired vibratory sensation
10166	SLC25A15	HP:0007256	Abnormal pyramidal sign
10166	SLC25A15	HP:0010864	Intellectual disability, severe
10166	SLC25A15	HP:0001290	Generalized hypotonia
10166	SLC25A15	HP:0001270	Motor delay
10166	SLC25A15	HP:0001289	Confusion
10166	SLC25A15	HP:0001254	Lethargy
10166	SLC25A15	HP:0001250	Seizure
10166	SLC25A15	HP:0001252	Hypotonia
10166	SLC25A15	HP:0001249	Intellectual disability
10166	SLC25A15	HP:0001264	Spastic diplegia
10166	SLC25A15	HP:0001263	Global developmental delay
10166	SLC25A15	HP:0001258	Spastic paraplegia
10166	SLC25A15	HP:0001257	Spasticity
10166	SLC25A15	HP:0001259	Coma
10166	SLC25A15	HP:0002572	Episodic vomiting
10166	SLC25A15	HP:0001399	Hepatic failure
10166	SLC25A15	HP:0012026	Hyperornithinemia
10166	SLC25A15	HP:0001347	Hyperreflexia
10166	SLC25A15	HP:0001328	Specific learning disability
10166	SLC25A15	HP:0000007	Autosomal recessive inheritance
10166	SLC25A15	HP:0001310	Dysmetria
10166	SLC25A15	HP:0012115	Hepatitis
10166	SLC25A15	HP:0002789	Tachypnea
10166	SLC25A15	HP:0001410	Decreased liver function
10166	SLC25A15	HP:0100543	Cognitive impairment
10166	SLC25A15	HP:0002064	Spastic gait
10166	SLC25A15	HP:0002078	Truncal ataxia
10166	SLC25A15	HP:0002075	Dysdiadochokinesis
10166	SLC25A15	HP:0002073	Progressive cerebellar ataxia
10166	SLC25A15	HP:0002038	Protein avoidance
10166	SLC25A15	HP:0034464	Homocitrullinuria
10166	SLC25A15	HP:0002123	Generalized myoclonic seizure
10166	SLC25A15	HP:0002120	Cerebral cortical atrophy
10166	SLC25A15	HP:0002168	Scanning speech
10166	SLC25A15	HP:0002169	Clonus
10166	SLC25A15	HP:0003593	Infantile onset
10166	SLC25A15	HP:0002240	Hepatomegaly
10166	SLC25A15	HP:0200119	Acute hepatitis
10166	SLC25A15	HP:0011968	Feeding difficulties
10166	SLC25A15	HP:0011965	Abnormal circulating citrulline concentration
10166	SLC25A15	HP:0007052	Multifocal cerebral white matter abnormalities
10166	SLC25A15	HP:0002370	Poor coordination
10166	SLC25A15	HP:0002313	Spastic paraparesis
10166	SLC25A15	HP:0003621	Juvenile onset
10166	SLC25A15	HP:0006846	Acute encephalopathy
10166	SLC25A15	HP:0001950	Respiratory alkalosis
10166	SLC25A15	HP:0001987	Hyperammonemia
10166	SLC25A15	HP:0000762	Decreased nerve conduction velocity
10166	SLC25A15	HP:0012758	Neurodevelopmental delay
10166	SLC25A15	HP:0040030	Chorioretinal hypopigmentation
10166	SLC25A15	HP:0003218	Oroticaciduria
10166	SLC25A15	HP:0003256	Abnormality of the coagulation cascade
10166	SLC25A15	HP:0001508	Failure to thrive
10166	SLC25A15	HP:0011098	Speech apraxia
10166	SLC25A15	HP:0007894	Hypopigmentation of the fundus
10166	SLC25A15	HP:0002910	Elevated hepatic transaminase
10166	SLC25A15	HP:0000533	Chorioretinal atrophy
10194	TSHZ1	HP:0000006	Autosomal dominant inheritance
10194	TSHZ1	HP:0004409	Hyposmia
10194	TSHZ1	HP:0000405	Conductive hearing impairment
10194	TSHZ1	HP:0000413	Atresia of the external auditory canal
10195	ALG3	HP:0001181	Adducted thumb
10195	ALG3	HP:0001141	Severely reduced visual acuity
10195	ALG3	HP:0100807	Long fingers
10195	ALG3	HP:0001276	Hypertonia
10195	ALG3	HP:0001272	Cerebellar atrophy
10195	ALG3	HP:0001285	Spastic tetraparesis
10195	ALG3	HP:0001250	Seizure
10195	ALG3	HP:0001252	Hypotonia
10195	ALG3	HP:0001263	Global developmental delay
10195	ALG3	HP:0002521	Hypsarrhythmia
10195	ALG3	HP:0001371	Flexion contracture
10195	ALG3	HP:0001347	Hyperreflexia
10195	ALG3	HP:0001332	Dystonia
10195	ALG3	HP:0000007	Autosomal recessive inheritance
10195	ALG3	HP:0001305	Dandy-Walker malformation
10195	ALG3	HP:0000193	Bifid uvula
10195	ALG3	HP:0012157	Subcortical cerebral atrophy
10195	ALG3	HP:0000158	Macroglossia
10195	ALG3	HP:0000172	Abnormal uvula morphology
10195	ALG3	HP:0008936	Axial hypotonia
10195	ALG3	HP:0012110	Hypoplasia of the pons
10195	ALG3	HP:0000119	Abnormality of the genitourinary system
10195	ALG3	HP:0001410	Decreased liver function
10195	ALG3	HP:0002719	Recurrent infections
10195	ALG3	HP:0002014	Diarrhea
10195	ALG3	HP:0002013	Vomiting
10195	ALG3	HP:0002089	Pulmonary hypoplasia
10195	ALG3	HP:0002086	Abnormality of the respiratory system
10195	ALG3	HP:0002060	Abnormal cerebral morphology
10195	ALG3	HP:0002079	Hypoplasia of the corpus callosum
10195	ALG3	HP:0002059	Cerebral atrophy
10195	ALG3	HP:0009473	Joint contracture of the hand
10195	ALG3	HP:0002164	Nail dysplasia
10195	ALG3	HP:0003577	Congenital onset
10195	ALG3	HP:0011968	Feeding difficulties
10195	ALG3	HP:0001010	Hypopigmentation of the skin
10195	ALG3	HP:0003642	Type I transferrin isoform profile
10195	ALG3	HP:0000639	Nystagmus
10195	ALG3	HP:0000648	Optic atrophy
10195	ALG3	HP:0000612	Iris coloboma
10195	ALG3	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
10195	ALG3	HP:0030680	Abnormality of cardiovascular system morphology
10195	ALG3	HP:0011473	Villous atrophy
10195	ALG3	HP:0009125	Lipodystrophy
10195	ALG3	HP:0012762	Cerebral white matter atrophy
10195	ALG3	HP:0003186	Inverted nipples
10195	ALG3	HP:0000818	Abnormality of the endocrine system
10195	ALG3	HP:0040064	Abnormality of limbs
10195	ALG3	HP:0005871	Metaphyseal chondrodysplasia
10195	ALG3	HP:0045005	Neural tube defect
10195	ALG3	HP:0000938	Osteopenia
10195	ALG3	HP:0000286	Epicanthus
10195	ALG3	HP:0002813	Abnormality of limb bone morphology
10195	ALG3	HP:0030084	Clinodactyly
10195	ALG3	HP:0002804	Arthrogryposis multiplex congenita
10195	ALG3	HP:0000252	Microcephaly
10195	ALG3	HP:0000218	High palate
10195	ALG3	HP:0001508	Failure to thrive
10195	ALG3	HP:0012379	Abnormal circulating enzyme concentration or activity
10195	ALG3	HP:0000377	Abnormal pinna morphology
10195	ALG3	HP:0000365	Hearing impairment
10195	ALG3	HP:0011024	Abnormality of the gastrointestinal tract
10195	ALG3	HP:0000366	Abnormality of the nose
10195	ALG3	HP:0012305	Coarctation of the descending aortic arch
10195	ALG3	HP:0001638	Cardiomyopathy
10195	ALG3	HP:0000400	Macrotia
10195	ALG3	HP:0005280	Depressed nasal bridge
10195	ALG3	HP:0000486	Strabismus
10195	ALG3	HP:0000478	Abnormality of the eye
10195	ALG3	HP:0001792	Small nail
10195	ALG3	HP:0012444	Brain atrophy
10195	ALG3	HP:0000414	Bulbous nose
10195	ALG3	HP:0001762	Talipes equinovarus
10195	ALG3	HP:0000431	Wide nasal bridge
10195	ALG3	HP:0000518	Cataract
10195	ALG3	HP:0012537	Food intolerance
10195	ALG3	HP:0001871	Abnormality of blood and blood-forming tissues
10195	ALG3	HP:0001864	Clinodactyly of the 5th toe
10203	CALCRL	HP:0007430	Generalized edema
10203	CALCRL	HP:0003826	Stillbirth
10203	CALCRL	HP:0000007	Autosomal recessive inheritance
10203	CALCRL	HP:0002202	Pleural effusion
10203	CALCRL	HP:0001561	Polyhydramnios
10203	CALCRL	HP:0001698	Pericardial effusion
10203	CALCRL	HP:0001790	Nonimmune hydrops fetalis
10205	MPZL2	HP:0000007	Autosomal recessive inheritance
10205	MPZL2	HP:0003621	Juvenile onset
10205	MPZL2	HP:0011463	Childhood onset
10205	MPZL2	HP:0000408	Progressive sensorineural hearing impairment
10210	TOPORS	HP:0001156	Brachydactyly
10210	TOPORS	HP:0001161	Hand polydactyly
10210	TOPORS	HP:0001159	Syndactyly
10210	TOPORS	HP:0002444	Hypothalamic hamartoma
10210	TOPORS	HP:0001123	Visual field defect
10210	TOPORS	HP:0002419	Molar tooth sign on MRI
10210	TOPORS	HP:0001290	Generalized hypotonia
10210	TOPORS	HP:0001288	Gait disturbance
10210	TOPORS	HP:0001250	Seizure
10210	TOPORS	HP:0001252	Hypotonia
10210	TOPORS	HP:0001251	Ataxia
10210	TOPORS	HP:0001249	Intellectual disability
10210	TOPORS	HP:0001263	Global developmental delay
10210	TOPORS	HP:0008736	Hypoplasia of penis
10210	TOPORS	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10210	TOPORS	HP:0008689	Bilateral cryptorchidism
10210	TOPORS	HP:0008678	Renal hypoplasia/aplasia
10210	TOPORS	HP:0002553	Highly arched eyebrow
10210	TOPORS	HP:0001347	Hyperreflexia
10210	TOPORS	HP:0000035	Abnormal testis morphology
10210	TOPORS	HP:0008872	Feeding difficulties in infancy
10210	TOPORS	HP:0006145	Central Y-shaped metacarpal
10210	TOPORS	HP:0001337	Tremor
10210	TOPORS	HP:0000006	Autosomal dominant inheritance
10210	TOPORS	HP:0001320	Cerebellar vermis hypoplasia
10210	TOPORS	HP:0000180	Lobulated tongue
10210	TOPORS	HP:0000199	Tongue nodules
10210	TOPORS	HP:0000190	Abnormal oral frenulum morphology
10210	TOPORS	HP:0000175	Cleft palate
10210	TOPORS	HP:0000135	Hypogonadism
10210	TOPORS	HP:0007675	Progressive night blindness
10210	TOPORS	HP:0000104	Renal agenesis
10210	TOPORS	HP:0002007	Frontal bossing
10210	TOPORS	HP:0005978	Type II diabetes mellitus
10210	TOPORS	HP:0011802	Hamartoma of tongue
10210	TOPORS	HP:0002104	Apnea
10210	TOPORS	HP:0002269	Abnormality of neuronal migration
10210	TOPORS	HP:0007036	Hypoplasia of olfactory tract
10210	TOPORS	HP:0009084	Midline notch of upper alveolar ridge
10210	TOPORS	HP:0000639	Nystagmus
10210	TOPORS	HP:0000648	Optic atrophy
10210	TOPORS	HP:0000618	Blindness
10210	TOPORS	HP:0000613	Photophobia
10210	TOPORS	HP:0000602	Ophthalmoplegia
10210	TOPORS	HP:0004322	Short stature
10210	TOPORS	HP:0004422	Biparietal narrowing
10210	TOPORS	HP:0000842	Hyperinsulinemia
10210	TOPORS	HP:0040019	Finger clinodactyly
10210	TOPORS	HP:0100260	Mesoaxial polydactyly
10210	TOPORS	HP:0100258	Preaxial polydactyly
10210	TOPORS	HP:0000987	Atypical scarring of skin
10210	TOPORS	HP:0008046	Abnormal retinal vascular morphology
10210	TOPORS	HP:0007722	Retinal pigment epithelial atrophy
10210	TOPORS	HP:0007703	Abnormality of retinal pigmentation
10210	TOPORS	HP:0000286	Epicanthus
10210	TOPORS	HP:0000276	Long face
10210	TOPORS	HP:0000218	High palate
10210	TOPORS	HP:0002876	Episodic tachypnea
10210	TOPORS	HP:0001508	Failure to thrive
10210	TOPORS	HP:0001510	Growth delay
10210	TOPORS	HP:0001513	Obesity
10210	TOPORS	HP:0007843	Attenuation of retinal blood vessels
10210	TOPORS	HP:0000368	Low-set, posteriorly rotated ears
10210	TOPORS	HP:0000347	Micrognathia
10210	TOPORS	HP:0000316	Hypertelorism
10210	TOPORS	HP:0001627	Abnormal heart morphology
10210	TOPORS	HP:0000407	Sensorineural hearing impairment
10210	TOPORS	HP:0000405	Conductive hearing impairment
10210	TOPORS	HP:0000463	Anteverted nares
10210	TOPORS	HP:0000455	Broad nasal tip
10210	TOPORS	HP:0000431	Wide nasal bridge
10210	TOPORS	HP:0000426	Prominent nasal bridge
10210	TOPORS	HP:0000518	Cataract
10210	TOPORS	HP:0000510	Rod-cone dystrophy
10210	TOPORS	HP:0000512	Abnormal electroretinogram
10210	TOPORS	HP:0001829	Foot polydactyly
10210	TOPORS	HP:0000505	Visual impairment
10210	TOPORS	HP:0000501	Glaucoma
10210	TOPORS	HP:0000563	Keratoconus
10210	TOPORS	HP:0000565	Esotropia
10216	PRG4	HP:0008610	Infantile sensorineural hearing impairment
10216	PRG4	HP:0002563	Constrictive pericarditis
10216	PRG4	HP:0001225	Wrist swelling
10216	PRG4	HP:0001239	Wrist flexion contracture
10216	PRG4	HP:0100864	Short femoral neck
10216	PRG4	HP:0008812	Flattened femoral head
10216	PRG4	HP:0012062	Bone cyst
10216	PRG4	HP:0001369	Arthritis
10216	PRG4	HP:0000007	Autosomal recessive inheritance
10216	PRG4	HP:0003940	Osteoarthritis of the elbow
10216	PRG4	HP:0002102	Pleuritis
10216	PRG4	HP:0011909	Flattened metacarpal heads
10216	PRG4	HP:0100490	Camptodactyly of finger
10216	PRG4	HP:0012649	Increased inflammatory response
10216	PRG4	HP:0003040	Arthropathy
10216	PRG4	HP:0100018	Nuclear cataract
10216	PRG4	HP:0005879	Congenital finger flexion contractures
10216	PRG4	HP:0000939	Osteoporosis
10216	PRG4	HP:0002812	Coxa vara
10216	PRG4	HP:0005086	Knee osteoarthritis
10216	PRG4	HP:0001541	Ascites
10216	PRG4	HP:0002938	Lumbar hyperlordosis
10216	PRG4	HP:0005197	Generalized morning stiffness
10216	PRG4	HP:0005195	Polyarticular arthropathy
10216	PRG4	HP:0005194	Flattened metatarsal heads
10216	PRG4	HP:0005186	Synovial hypertrophy
10216	PRG4	HP:0001653	Mitral regurgitation
10216	PRG4	HP:0001634	Mitral valve prolapse
10216	PRG4	HP:0001701	Pericarditis
10216	PRG4	HP:0001836	Camptodactyly of toe
10220	GDF11	HP:0002558	Supernumerary nipple
10220	GDF11	HP:0001382	Joint hypermobility
10220	GDF11	HP:0000023	Inguinal hernia
10220	GDF11	HP:0000006	Autosomal dominant inheritance
10220	GDF11	HP:0000176	Submucous cleft hard palate
10220	GDF11	HP:0011800	Midface retrusion
10220	GDF11	HP:0003577	Congenital onset
10220	GDF11	HP:0008416	Six lumbar vertebrae
10220	GDF11	HP:0003691	Scapular winging
10220	GDF11	HP:0000767	Pectus excavatum
10220	GDF11	HP:0100333	Unilateral cleft lip
10220	GDF11	HP:0100334	Unilateral cleft palate
10220	GDF11	HP:0005815	Supernumerary ribs
10220	GDF11	HP:0000286	Epicanthus
10220	GDF11	HP:0000269	Prominent occiput
10220	GDF11	HP:0000391	Thickened helices
10220	GDF11	HP:0000349	Widow's peak
10220	GDF11	HP:0000347	Micrognathia
10220	GDF11	HP:0000463	Anteverted nares
10220	GDF11	HP:0001763	Pes planus
10220	GDF11	HP:0011261	Darwin tubercle of helix
10220	GDF11	HP:0000592	Blue sclerae
10225	CD96	HP:0001162	Postaxial hand polydactyly
10225	CD96	HP:0001161	Hand polydactyly
10225	CD96	HP:0001290	Generalized hypotonia
10225	CD96	HP:0001250	Seizure
10225	CD96	HP:0001252	Hypotonia
10225	CD96	HP:0001249	Intellectual disability
10225	CD96	HP:0001263	Global developmental delay
10225	CD96	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10225	CD96	HP:0008678	Renal hypoplasia/aplasia
10225	CD96	HP:0010978	Abnormality of immune system physiology
10225	CD96	HP:0008665	Clitoral hypertrophy
10225	CD96	HP:0000085	Horseshoe kidney
10225	CD96	HP:0001376	Limitation of joint mobility
10225	CD96	HP:0001373	Joint dislocation
10225	CD96	HP:0000028	Cryptorchidism
10225	CD96	HP:0000003	Multicystic kidney dysplasia
10225	CD96	HP:0000006	Autosomal dominant inheritance
10225	CD96	HP:0002650	Scoliosis
10225	CD96	HP:0007601	Midline facial capillary hemangioma
10225	CD96	HP:0000191	Accessory oral frenulum
10225	CD96	HP:0000175	Cleft palate
10225	CD96	HP:0000154	Wide mouth
10225	CD96	HP:0007598	Bilateral single transverse palmar creases
10225	CD96	HP:0002750	Delayed skeletal maturation
10225	CD96	HP:0002019	Constipation
10225	CD96	HP:0009465	Ulnar deviation of finger
10225	CD96	HP:0009466	Radial deviation of finger
10225	CD96	HP:0010458	Female pseudohermaphroditism
10225	CD96	HP:0002240	Hepatomegaly
10225	CD96	HP:0010720	Abnormal hair pattern
10225	CD96	HP:0100720	Hypoplasia of the ear cartilage
10225	CD96	HP:0009826	Limb undergrowth
10225	CD96	HP:0004209	Clinodactyly of the 5th finger
10225	CD96	HP:0010049	Short metacarpal
10225	CD96	HP:0004322	Short stature
10225	CD96	HP:0030680	Abnormality of cardiovascular system morphology
10225	CD96	HP:0003083	Dislocated radial head
10225	CD96	HP:0000803	Renal cortical cysts
10225	CD96	HP:0004378	Abnormality of the anus
10225	CD96	HP:0009100	Thick anterior alveolar ridges
10225	CD96	HP:0000767	Pectus excavatum
10225	CD96	HP:0000776	Congenital diaphragmatic hernia
10225	CD96	HP:0004422	Biparietal narrowing
10225	CD96	HP:0003196	Short nose
10225	CD96	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
10225	CD96	HP:0000973	Cutis laxa
10225	CD96	HP:0000960	Sacral dimple
10225	CD96	HP:0000286	Epicanthus
10225	CD96	HP:0002827	Hip dislocation
10225	CD96	HP:0030084	Clinodactyly
10225	CD96	HP:0000243	Trigonocephaly
10225	CD96	HP:0000252	Microcephaly
10225	CD96	HP:0001582	Redundant skin
10225	CD96	HP:0000218	High palate
10225	CD96	HP:0000212	Gingival overgrowth
10225	CD96	HP:0001561	Polyhydramnios
10225	CD96	HP:0000233	Thin vermilion border
10225	CD96	HP:0001531	Failure to thrive in infancy
10225	CD96	HP:0001522	Death in infancy
10225	CD96	HP:0001539	Omphalocele
10225	CD96	HP:0001508	Failure to thrive
10225	CD96	HP:0000358	Posteriorly rotated ears
10225	CD96	HP:0000369	Low-set ears
10225	CD96	HP:0000368	Low-set, posteriorly rotated ears
10225	CD96	HP:0000343	Long philtrum
10225	CD96	HP:0000347	Micrognathia
10225	CD96	HP:0002983	Micromelia
10225	CD96	HP:0000319	Smooth philtrum
10225	CD96	HP:0001643	Patent ductus arteriosus
10225	CD96	HP:0001629	Ventricular septal defect
10225	CD96	HP:0006643	Fused sternal ossification centers
10225	CD96	HP:0005280	Depressed nasal bridge
10225	CD96	HP:0000486	Strabismus
10225	CD96	HP:0000463	Anteverted nares
10225	CD96	HP:0000470	Short neck
10225	CD96	HP:0001770	Toe syndactyly
10225	CD96	HP:0000431	Wide nasal bridge
10225	CD96	HP:0001830	Postaxial foot polydactyly
10225	CD96	HP:0000582	Upslanted palpebral fissure
10225	CD96	HP:0001883	Talipes
10229	COQ7	HP:0001290	Generalized hypotonia
10229	COQ7	HP:0001271	Polyneuropathy
10229	COQ7	HP:0001270	Motor delay
10229	COQ7	HP:0001252	Hypotonia
10229	COQ7	HP:0001263	Global developmental delay
10229	COQ7	HP:0001371	Flexion contracture
10229	COQ7	HP:0008897	Postnatal growth retardation
10229	COQ7	HP:0001324	Muscle weakness
10229	COQ7	HP:0000007	Autosomal recessive inheritance
10229	COQ7	HP:0000110	Renal dysplasia
10229	COQ7	HP:0002089	Pulmonary hypoplasia
10229	COQ7	HP:0002098	Respiratory distress
10229	COQ7	HP:0005932	Abnormal renal corticomedullary differentiation
10229	COQ7	HP:0003577	Congenital onset
10229	COQ7	HP:0011968	Feeding difficulties
10229	COQ7	HP:0000822	Hypertension
10229	COQ7	HP:0003259	Elevated circulating creatinine concentration
10229	COQ7	HP:0001562	Oligohydramnios
10229	COQ7	HP:0001518	Small for gestational age
10229	COQ7	HP:0001511	Intrauterine growth retardation
10229	COQ7	HP:0011096	Peripheral demyelination
10229	COQ7	HP:0000365	Hearing impairment
10229	COQ7	HP:0001712	Left ventricular hypertrophy
10229	COQ7	HP:0000505	Visual impairment
10229	COQ7	HP:0012531	Pain
10235	RASGRP2	HP:0000007	Autosomal recessive inheritance
10235	RASGRP2	HP:0006298	Prolonged bleeding after dental extraction
10235	RASGRP2	HP:0000132	Menorrhagia
10235	RASGRP2	HP:0008148	Impaired epinephrine-induced platelet aggregation
10235	RASGRP2	HP:0004866	Impaired ADP-induced platelet aggregation
10235	RASGRP2	HP:0003010	Prolonged bleeding time
10235	RASGRP2	HP:0011463	Childhood onset
10235	RASGRP2	HP:0000978	Bruising susceptibility
10235	RASGRP2	HP:0000421	Epistaxis
10236	HNRNPR	HP:0001156	Brachydactyly
10236	HNRNPR	HP:0001274	Agenesis of corpus callosum
10236	HNRNPR	HP:0001250	Seizure
10236	HNRNPR	HP:0001263	Global developmental delay
10236	HNRNPR	HP:0000066	Labial hypoplasia
10236	HNRNPR	HP:0000054	Micropenis
10236	HNRNPR	HP:0001385	Hip dysplasia
10236	HNRNPR	HP:0000028	Cryptorchidism
10236	HNRNPR	HP:0002673	Coxa valga
10236	HNRNPR	HP:0000006	Autosomal dominant inheritance
10236	HNRNPR	HP:0001320	Cerebellar vermis hypoplasia
10236	HNRNPR	HP:0002650	Scoliosis
10236	HNRNPR	HP:0002079	Hypoplasia of the corpus callosum
10236	HNRNPR	HP:0003577	Congenital onset
10236	HNRNPR	HP:0200134	Epileptic encephalopathy
10236	HNRNPR	HP:0007018	Attention deficit hyperactivity disorder
10236	HNRNPR	HP:0011968	Feeding difficulties
10236	HNRNPR	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
10236	HNRNPR	HP:0001007	Hirsutism
10236	HNRNPR	HP:0008450	Narrow vertebral interpedicular distance
10236	HNRNPR	HP:0009765	Low hanging columella
10236	HNRNPR	HP:0004209	Clinodactyly of the 5th finger
10236	HNRNPR	HP:0004279	Short palm
10236	HNRNPR	HP:0004227	Short distal phalanx of the 5th finger
10236	HNRNPR	HP:0000639	Nystagmus
10236	HNRNPR	HP:0010055	Broad hallux
10236	HNRNPR	HP:0011304	Broad thumb
10236	HNRNPR	HP:0012745	Short palpebral fissure
10236	HNRNPR	HP:0003183	Wide pubic symphysis
10236	HNRNPR	HP:0000878	11 pairs of ribs
10236	HNRNPR	HP:0000826	Precocious puberty
10236	HNRNPR	HP:0040022	Clinodactyly of the 2nd finger
10236	HNRNPR	HP:0005824	Clinodactyly of the 2nd toe
10236	HNRNPR	HP:0008081	Pes valgus
10236	HNRNPR	HP:0000248	Brachycephaly
10236	HNRNPR	HP:0001601	Laryngomalacia
10236	HNRNPR	HP:0000347	Micrognathia
10236	HNRNPR	HP:0001629	Ventricular septal defect
10236	HNRNPR	HP:0005280	Depressed nasal bridge
10236	HNRNPR	HP:0000486	Strabismus
10236	HNRNPR	HP:0000470	Short neck
10236	HNRNPR	HP:0001773	Short foot
10236	HNRNPR	HP:0000446	Narrow nasal bridge
10236	HNRNPR	HP:0000431	Wide nasal bridge
10236	HNRNPR	HP:0005484	Secondary microcephaly
10236	HNRNPR	HP:0000506	Telecanthus
10236	HNRNPR	HP:0000582	Upslanted palpebral fissure
10236	HNRNPR	HP:0000540	Hypermetropia
10243	GPHN	HP:0500152	Hypocystinemia
10243	GPHN	HP:0500181	Hypertaurinemia
10243	GPHN	HP:0002421	Poor head control
10243	GPHN	HP:0001290	Generalized hypotonia
10243	GPHN	HP:0001276	Hypertonia
10243	GPHN	HP:0001288	Gait disturbance
10243	GPHN	HP:0001250	Seizure
10243	GPHN	HP:0001251	Ataxia
10243	GPHN	HP:0001249	Intellectual disability
10243	GPHN	HP:0001257	Spasticity
10243	GPHN	HP:0002509	Limb hypertonia
10243	GPHN	HP:0003811	Neonatal death
10243	GPHN	HP:0001373	Joint dislocation
10243	GPHN	HP:0001387	Joint stiffness
10243	GPHN	HP:0000023	Inguinal hernia
10243	GPHN	HP:0001347	Hyperreflexia
10243	GPHN	HP:0000007	Autosomal recessive inheritance
10243	GPHN	HP:0000006	Autosomal dominant inheritance
10243	GPHN	HP:0001336	Myoclonus
10243	GPHN	HP:0001321	Cerebellar hypoplasia
10243	GPHN	HP:0008936	Axial hypotonia
10243	GPHN	HP:0012110	Hypoplasia of the pons
10243	GPHN	HP:0002020	Gastroesophageal reflux
10243	GPHN	HP:0002036	Hiatus hernia
10243	GPHN	HP:0002069	Bilateral tonic-clonic seizure
10243	GPHN	HP:0002063	Rigidity
10243	GPHN	HP:0002123	Generalized myoclonic seizure
10243	GPHN	HP:0002126	Polymicrogyria
10243	GPHN	HP:0002104	Apnea
10243	GPHN	HP:0002197	Generalized-onset seizure
10243	GPHN	HP:0002267	Exaggerated startle response
10243	GPHN	HP:0003593	Infantile onset
10243	GPHN	HP:0003570	Molybdenum cofactor deficiency
10243	GPHN	HP:0003552	Muscle stiffness
10243	GPHN	HP:0003537	Hypouricemia
10243	GPHN	HP:0100790	Hernia
10243	GPHN	HP:0011968	Feeding difficulties
10243	GPHN	HP:0002380	Fasciculations
10243	GPHN	HP:0002360	Sleep disturbance
10243	GPHN	HP:0002359	Frequent falls
10243	GPHN	HP:0002375	Hypokinesia
10243	GPHN	HP:0100633	Esophagitis
10243	GPHN	HP:0003623	Neonatal onset
10243	GPHN	HP:0003643	Sulfite oxidase deficiency
10243	GPHN	HP:0011344	Severe global developmental delay
10243	GPHN	HP:0031951	Nocturnal seizures
10243	GPHN	HP:0100022	Abnormality of movement
10243	GPHN	HP:0003166	Increased urinary taurine
10243	GPHN	HP:0002827	Hip dislocation
10243	GPHN	HP:0001537	Umbilical hernia
10243	GPHN	HP:0002835	Aspiration
10253	SPRY2	HP:0003774	Stage 5 chronic kidney disease
10253	SPRY2	HP:0000093	Proteinuria
10253	SPRY2	HP:0000006	Autosomal dominant inheritance
10253	SPRY2	HP:0003676	Progressive
10253	SPRY2	HP:0011462	Young adult onset
10253	SPRY2	HP:0000794	IgA deposition in the glomerulus
10253	SPRY2	HP:0000790	Hematuria
10253	SPRY2	HP:0000822	Hypertension
10253	SPRY2	HP:0012574	Mesangial hypercellularity
10262	SF3B4	HP:0001180	Hand oligodactyly
10262	SF3B4	HP:0001199	Triphalangeal thumb
10262	SF3B4	HP:0008551	Microtia
10262	SF3B4	HP:0002410	Aqueductal stenosis
10262	SF3B4	HP:0001249	Intellectual disability
10262	SF3B4	HP:0001263	Global developmental delay
10262	SF3B4	HP:0006101	Finger syndactyly
10262	SF3B4	HP:0008749	Laryngeal hypoplasia
10262	SF3B4	HP:0100840	Aplasia/Hypoplasia of the eyebrow
10262	SF3B4	HP:0008678	Renal hypoplasia/aplasia
10262	SF3B4	HP:0001377	Limited elbow extension
10262	SF3B4	HP:0001387	Joint stiffness
10262	SF3B4	HP:0000006	Autosomal dominant inheritance
10262	SF3B4	HP:0002652	Skeletal dysplasia
10262	SF3B4	HP:0002650	Scoliosis
10262	SF3B4	HP:0003974	Absent radius
10262	SF3B4	HP:0002644	Abnormal pelvic girdle bone morphology
10262	SF3B4	HP:0000175	Cleft palate
10262	SF3B4	HP:0000174	Abnormal palate morphology
10262	SF3B4	HP:0000154	Wide mouth
10262	SF3B4	HP:0007646	Absent lower eyelashes
10262	SF3B4	HP:0000122	Unilateral renal agenesis
10262	SF3B4	HP:0000130	Abnormality of the uterus
10262	SF3B4	HP:0003312	Abnormal form of the vertebral bodies
10262	SF3B4	HP:0003319	Abnormality of the cervical spine
10262	SF3B4	HP:0011800	Midface retrusion
10262	SF3B4	HP:0002093	Respiratory insufficiency
10262	SF3B4	HP:0009466	Radial deviation of finger
10262	SF3B4	HP:0002139	Arrhinencephaly
10262	SF3B4	HP:0002126	Polymicrogyria
10262	SF3B4	HP:0009601	Aplasia/Hypoplasia of the thumb
10262	SF3B4	HP:0003577	Congenital onset
10262	SF3B4	HP:0002251	Aganglionic megacolon
10262	SF3B4	HP:0010669	Hypoplasia of the zygomatic bone
10262	SF3B4	HP:0001025	Urticaria
10262	SF3B4	HP:0009829	Phocomelia
10262	SF3B4	HP:0009777	Absent thumb
10262	SF3B4	HP:0010055	Broad hallux
10262	SF3B4	HP:0000652	Lower eyelid coloboma
10262	SF3B4	HP:0004322	Short stature
10262	SF3B4	HP:0030680	Abnormality of cardiovascular system morphology
10262	SF3B4	HP:0003038	Fibular hypoplasia
10262	SF3B4	HP:0000750	Delayed speech and language development
10262	SF3B4	HP:0000776	Congenital diaphragmatic hernia
10262	SF3B4	HP:0000912	Sprengel anomaly
10262	SF3B4	HP:0100335	Non-midline cleft lip
10262	SF3B4	HP:0000813	Bicornuate uterus
10262	SF3B4	HP:0000278	Retrognathia
10262	SF3B4	HP:0000272	Malar flattening
10262	SF3B4	HP:0007776	Sparse lower eyelashes
10262	SF3B4	HP:0005105	Abnormal nasal morphology
10262	SF3B4	HP:0002814	Abnormality of the lower limb
10262	SF3B4	HP:0002827	Hip dislocation
10262	SF3B4	HP:0030084	Clinodactyly
10262	SF3B4	HP:0000238	Hydrocephalus
10262	SF3B4	HP:0000252	Microcephaly
10262	SF3B4	HP:0000220	Velopharyngeal insufficiency
10262	SF3B4	HP:0001543	Gastroschisis
10262	SF3B4	HP:0000211	Trismus
10262	SF3B4	HP:0000204	Cleft upper lip
10262	SF3B4	HP:0001511	Intrauterine growth retardation
10262	SF3B4	HP:0006501	Aplasia/Hypoplasia of the radius
10262	SF3B4	HP:0000384	Preauricular skin tag
10262	SF3B4	HP:0001607	Subglottic stenosis
10262	SF3B4	HP:0006495	Aplasia/Hypoplasia of the ulna
10262	SF3B4	HP:0000365	Hearing impairment
10262	SF3B4	HP:0000358	Posteriorly rotated ears
10262	SF3B4	HP:0000369	Low-set ears
10262	SF3B4	HP:0000368	Low-set, posteriorly rotated ears
10262	SF3B4	HP:0000347	Micrognathia
10262	SF3B4	HP:0001643	Patent ductus arteriosus
10262	SF3B4	HP:0002974	Radioulnar synostosis
10262	SF3B4	HP:0000327	Hypoplasia of the maxilla
10262	SF3B4	HP:0002984	Hypoplasia of the radius
10262	SF3B4	HP:0001629	Ventricular septal defect
10262	SF3B4	HP:0001622	Premature birth
10262	SF3B4	HP:0000308	Microretrognathia
10262	SF3B4	HP:0001636	Tetralogy of Fallot
10262	SF3B4	HP:0012478	Temporomandibular joint ankylosis
10262	SF3B4	HP:0005349	Hypoplasia of the epiglottis
10262	SF3B4	HP:0006657	Hypoplasia of first ribs
10262	SF3B4	HP:0000405	Conductive hearing impairment
10262	SF3B4	HP:0000494	Downslanted palpebral fissures
10262	SF3B4	HP:0001770	Toe syndactyly
10262	SF3B4	HP:0000413	Atresia of the external auditory canal
10262	SF3B4	HP:0001762	Talipes equinovarus
10262	SF3B4	HP:0000426	Prominent nasal bridge
10262	SF3B4	HP:0001849	Foot oligodactyly
10262	SF3B4	HP:0001845	Overlapping toe
10262	SF3B4	HP:0001822	Hallux valgus
10262	SF3B4	HP:0000508	Ptosis
10262	SF3B4	HP:0001831	Short toe
10265	IRX5	HP:0001182	Tapered finger
10265	IRX5	HP:0001159	Syndactyly
10265	IRX5	HP:0100807	Long fingers
10265	IRX5	HP:0001249	Intellectual disability
10265	IRX5	HP:0001263	Global developmental delay
10265	IRX5	HP:0001385	Hip dysplasia
10265	IRX5	HP:0000023	Inguinal hernia
10265	IRX5	HP:0001363	Craniosynostosis
10265	IRX5	HP:0000028	Cryptorchidism
10265	IRX5	HP:0000007	Autosomal recessive inheritance
10265	IRX5	HP:0000154	Wide mouth
10265	IRX5	HP:0006297	Enamel hypoplasia
10265	IRX5	HP:0002757	Recurrent fractures
10265	IRX5	HP:0002162	Low posterior hairline
10265	IRX5	HP:0010511	Long toe
10265	IRX5	HP:0009536	Short 2nd finger
10265	IRX5	HP:0003577	Congenital onset
10265	IRX5	HP:0200021	Down-sloping shoulders
10265	IRX5	HP:0010813	Abnormal number of hair whorls
10265	IRX5	HP:0009759	Neck pterygia
10265	IRX5	HP:0004209	Clinodactyly of the 5th finger
10265	IRX5	HP:0001935	Microcytic anemia
10265	IRX5	HP:0001931	Hypochromic anemia
10265	IRX5	HP:0011343	Moderate global developmental delay
10265	IRX5	HP:0000689	Dental malocclusion
10265	IRX5	HP:0000653	Sparse eyelashes
10265	IRX5	HP:0000668	Hypodontia
10265	IRX5	HP:0000767	Pectus excavatum
10265	IRX5	HP:0000829	Hypoparathyroidism
10265	IRX5	HP:0045075	Sparse eyebrow
10265	IRX5	HP:0000938	Osteopenia
10265	IRX5	HP:0008070	Sparse hair
10265	IRX5	HP:0000248	Brachycephaly
10265	IRX5	HP:0000219	Thin upper lip vermilion
10265	IRX5	HP:0000218	High palate
10265	IRX5	HP:0000232	Everted lower lip vermilion
10265	IRX5	HP:0000384	Preauricular skin tag
10265	IRX5	HP:0012371	Hyperplasia of midface
10265	IRX5	HP:0011003	High myopia
10265	IRX5	HP:0000369	Low-set ears
10265	IRX5	HP:0001674	Complete atrioventricular canal defect
10265	IRX5	HP:0000343	Long philtrum
10265	IRX5	HP:0000347	Micrognathia
10265	IRX5	HP:0000319	Smooth philtrum
10265	IRX5	HP:0000316	Hypertelorism
10265	IRX5	HP:0001653	Mitral regurgitation
10265	IRX5	HP:0001631	Atrial septal defect
10265	IRX5	HP:0006677	Prolonged QRS complex
10265	IRX5	HP:0005338	Sparse lateral eyebrow
10265	IRX5	HP:0000407	Sensorineural hearing impairment
10265	IRX5	HP:0000463	Anteverted nares
10265	IRX5	HP:0000431	Wide nasal bridge
10265	IRX5	HP:0000506	Telecanthus
10265	IRX5	HP:0000581	Blepharophimosis
10265	IRX5	HP:0011220	Prominent forehead
10269	ZMPSTE24	HP:0003774	Stage 5 chronic kidney disease
10269	ZMPSTE24	HP:0008647	Pubertal developmental failure in females
10269	ZMPSTE24	HP:0025169	Left ventricular systolic dysfunction
10269	ZMPSTE24	HP:0025168	Left ventricular diastolic dysfunction
10269	ZMPSTE24	HP:0001196	Short umbilical cord
10269	ZMPSTE24	HP:0009924	Aplasia/Hypoplasia involving the nose
10269	ZMPSTE24	HP:0009904	Prominent ear helix
10269	ZMPSTE24	HP:0010885	Avascular necrosis
10269	ZMPSTE24	HP:0008573	Low-frequency sensorineural hearing impairment
10269	ZMPSTE24	HP:0009882	Short distal phalanx of finger
10269	ZMPSTE24	HP:0003761	Calcinosis
10269	ZMPSTE24	HP:0001297	Stroke
10269	ZMPSTE24	HP:0002597	Abnormality of the vasculature
10269	ZMPSTE24	HP:0007418	Alopecia totalis
10269	ZMPSTE24	HP:0100840	Aplasia/Hypoplasia of the eyebrow
10269	ZMPSTE24	HP:0007394	Prominent superficial blood vessels
10269	ZMPSTE24	HP:0001211	Abnormal fingertip morphology
10269	ZMPSTE24	HP:0003826	Stillbirth
10269	ZMPSTE24	HP:0031013	Ankylosis
10269	ZMPSTE24	HP:0003811	Neonatal death
10269	ZMPSTE24	HP:0008800	Limited hip movement
10269	ZMPSTE24	HP:0000073	Ureteral duplication
10269	ZMPSTE24	HP:0025354	Abnormal cellular phenotype
10269	ZMPSTE24	HP:0001376	Limitation of joint mobility
10269	ZMPSTE24	HP:0001371	Flexion contracture
10269	ZMPSTE24	HP:0001387	Joint stiffness
10269	ZMPSTE24	HP:0000050	Hypoplastic male external genitalia
10269	ZMPSTE24	HP:0000047	Hypospadias
10269	ZMPSTE24	HP:0007543	Epidermal hyperkeratosis
10269	ZMPSTE24	HP:0007495	Prematurely aged appearance
10269	ZMPSTE24	HP:0007485	Absence of subcutaneous fat
10269	ZMPSTE24	HP:0002673	Coxa valga
10269	ZMPSTE24	HP:0000007	Autosomal recessive inheritance
10269	ZMPSTE24	HP:0002645	Wormian bones
10269	ZMPSTE24	HP:0002621	Atherosclerosis
10269	ZMPSTE24	HP:0000164	Abnormality of the dentition
10269	ZMPSTE24	HP:0000160	Narrow mouth
10269	ZMPSTE24	HP:0000176	Submucous cleft hard palate
10269	ZMPSTE24	HP:0002797	Osteolysis
10269	ZMPSTE24	HP:0006335	Persistence of primary teeth
10269	ZMPSTE24	HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands
10269	ZMPSTE24	HP:0006266	Small placenta
10269	ZMPSTE24	HP:0006267	Large placenta
10269	ZMPSTE24	HP:0006248	Limited wrist movement
10269	ZMPSTE24	HP:0002781	Upper airway obstruction
10269	ZMPSTE24	HP:0000134	Female hypogonadism
10269	ZMPSTE24	HP:0002758	Osteoarthritis
10269	ZMPSTE24	HP:0002751	Kyphoscoliosis
10269	ZMPSTE24	HP:0005995	Decreased adipose tissue around neck
10269	ZMPSTE24	HP:0002089	Pulmonary hypoplasia
10269	ZMPSTE24	HP:0002092	Pulmonary arterial hypertension
10269	ZMPSTE24	HP:0002170	Intracranial hemorrhage
10269	ZMPSTE24	HP:0100490	Camptodactyly of finger
10269	ZMPSTE24	HP:0008244	Congenital adrenal hypoplasia
10269	ZMPSTE24	HP:0010505	Limitation of movement at ankles
10269	ZMPSTE24	HP:0011832	Narrow nasal tip
10269	ZMPSTE24	HP:0003593	Infantile onset
10269	ZMPSTE24	HP:0003577	Congenital onset
10269	ZMPSTE24	HP:0002223	Absent eyebrow
10269	ZMPSTE24	HP:0200102	Sparse or absent eyelashes
10269	ZMPSTE24	HP:0002232	Patchy alopecia
10269	ZMPSTE24	HP:0008404	Nail dystrophy
10269	ZMPSTE24	HP:0002299	Brittle hair
10269	ZMPSTE24	HP:0010648	Dermal translucency
10269	ZMPSTE24	HP:0008391	Dystrophic fingernails
10269	ZMPSTE24	HP:0001034	Hypermelanotic macule
10269	ZMPSTE24	HP:0002362	Shuffling gait
10269	ZMPSTE24	HP:0001015	Prominent superficial veins
10269	ZMPSTE24	HP:0002326	Transient ischemic attack
10269	ZMPSTE24	HP:0200034	Papule
10269	ZMPSTE24	HP:0009839	Osteolytic defects of the distal phalanges of the hand
10269	ZMPSTE24	HP:0100678	Premature skin wrinkling
10269	ZMPSTE24	HP:0100679	Lack of skin elasticity
10269	ZMPSTE24	HP:0100613	Death in early adulthood
10269	ZMPSTE24	HP:0001070	Mottled pigmentation
10269	ZMPSTE24	HP:0009803	Short phalanx of finger
10269	ZMPSTE24	HP:0200041	Skin erosion
10269	ZMPSTE24	HP:0010766	Ectopic calcification
10269	ZMPSTE24	HP:0004970	Ascending tubular aorta aneurysm
10269	ZMPSTE24	HP:0003635	Loss of subcutaneous adipose tissue in limbs
10269	ZMPSTE24	HP:0005595	Generalized hyperkeratosis
10269	ZMPSTE24	HP:0000621	Entropion
10269	ZMPSTE24	HP:0001952	Glucose intolerance
10269	ZMPSTE24	HP:0009064	Generalized lipodystrophy
10269	ZMPSTE24	HP:0011354	Generalized abnormality of skin
10269	ZMPSTE24	HP:0000684	Delayed eruption of teeth
10269	ZMPSTE24	HP:0000678	Dental crowding
10269	ZMPSTE24	HP:0000695	Natal tooth
10269	ZMPSTE24	HP:0000685	Hypoplasia of teeth
10269	ZMPSTE24	HP:0009002	Loss of truncal subcutaneous adipose tissue
10269	ZMPSTE24	HP:0000653	Sparse eyelashes
10269	ZMPSTE24	HP:0000668	Hypodontia
10269	ZMPSTE24	HP:0004322	Short stature
10269	ZMPSTE24	HP:0004334	Dermal atrophy
10269	ZMPSTE24	HP:0004331	Decreased skull ossification
10269	ZMPSTE24	HP:0005659	Thoracic kyphoscoliosis
10269	ZMPSTE24	HP:0003077	Hyperlipidemia
10269	ZMPSTE24	HP:0003074	Hyperglycemia
10269	ZMPSTE24	HP:0004388	Microcolon
10269	ZMPSTE24	HP:0004382	Mitral valve calcification
10269	ZMPSTE24	HP:0004380	Aortic valve calcification
10269	ZMPSTE24	HP:0034197	Third trimester onset
10269	ZMPSTE24	HP:0004349	Reduced bone mineral density
10269	ZMPSTE24	HP:0012745	Short palpebral fissure
10269	ZMPSTE24	HP:0011414	Hydropic placenta
10269	ZMPSTE24	HP:0000765	Abnormal thorax morphology
10269	ZMPSTE24	HP:0011457	Loss of eyelashes
10269	ZMPSTE24	HP:0011461	Fetal onset
10269	ZMPSTE24	HP:0003121	Limb joint contracture
10269	ZMPSTE24	HP:0003196	Short nose
10269	ZMPSTE24	HP:0000924	Abnormality of the skeletal system
10269	ZMPSTE24	HP:0000905	Progressive clavicular acroosteolysis
10269	ZMPSTE24	HP:0004482	Relative macrocephaly
10269	ZMPSTE24	HP:0004492	Widely patent fontanelles and sutures
10269	ZMPSTE24	HP:0000883	Thin ribs
10269	ZMPSTE24	HP:0000855	Insulin resistance
10269	ZMPSTE24	HP:0000835	Adrenal hypoplasia
10269	ZMPSTE24	HP:0000831	Insulin-resistant diabetes mellitus
10269	ZMPSTE24	HP:0000842	Hyperinsulinemia
10269	ZMPSTE24	HP:0012804	Corneal ulceration
10269	ZMPSTE24	HP:0000822	Hypertension
10269	ZMPSTE24	HP:0000823	Delayed puberty
10269	ZMPSTE24	HP:0010296	Ankyloglossia
10269	ZMPSTE24	HP:0000894	Short clavicles
10269	ZMPSTE24	HP:0010219	Structural foot deformity
10269	ZMPSTE24	HP:0030880	Raynaud phenomenon
10269	ZMPSTE24	HP:0003292	Decreased serum leptin
10269	ZMPSTE24	HP:0045075	Sparse eyebrow
10269	ZMPSTE24	HP:0030838	Hip pain
10269	ZMPSTE24	HP:0000953	Hyperpigmentation of the skin
10269	ZMPSTE24	HP:0000961	Cyanosis
10269	ZMPSTE24	HP:0000963	Thin skin
10269	ZMPSTE24	HP:0000938	Osteopenia
10269	ZMPSTE24	HP:0008070	Sparse hair
10269	ZMPSTE24	HP:0040189	Scaling skin
10269	ZMPSTE24	HP:0000278	Retrognathia
10269	ZMPSTE24	HP:0000292	Loss of facial adipose tissue
10269	ZMPSTE24	HP:0001595	Abnormal hair morphology
10269	ZMPSTE24	HP:0001596	Alopecia
10269	ZMPSTE24	HP:0000260	Wide anterior fontanel
10269	ZMPSTE24	HP:0000270	Delayed cranial suture closure
10269	ZMPSTE24	HP:0006467	Limited shoulder movement
10269	ZMPSTE24	HP:0002827	Hip dislocation
10269	ZMPSTE24	HP:0002828	Multiple joint contractures
10269	ZMPSTE24	HP:0002804	Arthrogryposis multiplex congenita
10269	ZMPSTE24	HP:0006391	Overtubulated long bones
10269	ZMPSTE24	HP:0000239	Large fontanelles
10269	ZMPSTE24	HP:0000218	High palate
10269	ZMPSTE24	HP:0001544	Prominent umbilicus
10269	ZMPSTE24	HP:0002875	Exertional dyspnea
10269	ZMPSTE24	HP:0001562	Oligohydramnios
10269	ZMPSTE24	HP:0001561	Polyhydramnios
10269	ZMPSTE24	HP:0000233	Thin vermilion border
10269	ZMPSTE24	HP:0030002	Nocturnal lagophthalmos
10269	ZMPSTE24	HP:0001558	Decreased fetal movement
10269	ZMPSTE24	HP:0000200	Short lingual frenulum
10269	ZMPSTE24	HP:0001525	Severe failure to thrive
10269	ZMPSTE24	HP:0030053	Stiff skin
10269	ZMPSTE24	HP:0001511	Intrauterine growth retardation
10269	ZMPSTE24	HP:0001510	Growth delay
10269	ZMPSTE24	HP:0011079	Impacted tooth
10269	ZMPSTE24	HP:0005253	Increased anterioposterior diameter of thorax
10269	ZMPSTE24	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility
10269	ZMPSTE24	HP:0006585	Congenital pseudoarthrosis of the clavicle
10269	ZMPSTE24	HP:0006480	Premature loss of teeth
10269	ZMPSTE24	HP:0000369	Low-set ears
10269	ZMPSTE24	HP:0001669	Transposition of the great arteries
10269	ZMPSTE24	HP:0001681	Angina pectoris
10269	ZMPSTE24	HP:0000347	Micrognathia
10269	ZMPSTE24	HP:0001650	Aortic valve stenosis
10269	ZMPSTE24	HP:0000320	Bird-like facies
10269	ZMPSTE24	HP:0001651	Dextrocardia
10269	ZMPSTE24	HP:0000316	Hypertelorism
10269	ZMPSTE24	HP:0001646	Abnormal aortic valve morphology
10269	ZMPSTE24	HP:0001643	Patent ductus arteriosus
10269	ZMPSTE24	HP:0000331	Short chin
10269	ZMPSTE24	HP:0001658	Myocardial infarction
10269	ZMPSTE24	HP:0001659	Aortic regurgitation
10269	ZMPSTE24	HP:0001653	Mitral regurgitation
10269	ZMPSTE24	HP:0001620	High pitched voice
10269	ZMPSTE24	HP:0001622	Premature birth
10269	ZMPSTE24	HP:0001631	Atrial septal defect
10269	ZMPSTE24	HP:0001633	Abnormal mitral valve morphology
10269	ZMPSTE24	HP:0007957	Corneal opacity
10269	ZMPSTE24	HP:0012478	Temporomandibular joint ankylosis
10269	ZMPSTE24	HP:0005328	Progeroid facial appearance
10269	ZMPSTE24	HP:0006645	Thin clavicles
10269	ZMPSTE24	HP:0000405	Conductive hearing impairment
10269	ZMPSTE24	HP:0001718	Mitral stenosis
10269	ZMPSTE24	HP:0001714	Ventricular hypertrophy
10269	ZMPSTE24	HP:0005280	Depressed nasal bridge
10269	ZMPSTE24	HP:0012474	Carotid artery occlusion
10269	ZMPSTE24	HP:0000494	Downslanted palpebral fissures
10269	ZMPSTE24	HP:0000464	Abnormality of the neck
10269	ZMPSTE24	HP:0001788	Premature rupture of membranes
10269	ZMPSTE24	HP:0000465	Webbed neck
10269	ZMPSTE24	HP:0001799	Short nail
10269	ZMPSTE24	HP:0000436	Abnormal nasal tip morphology
10269	ZMPSTE24	HP:0000453	Choanal atresia
10269	ZMPSTE24	HP:0000444	Convex nasal ridge
10269	ZMPSTE24	HP:0000418	Narrow nasal ridge
10269	ZMPSTE24	HP:0025712	Spontaneous chorioamniotic separation
10269	ZMPSTE24	HP:0001757	High-frequency sensorineural hearing impairment
10269	ZMPSTE24	HP:0006710	Aplasia/Hypoplasia of the clavicles
10269	ZMPSTE24	HP:0005474	Decreased calvarial ossification
10269	ZMPSTE24	HP:0005461	Craniofacial disproportion
10269	ZMPSTE24	HP:0000520	Proptosis
10269	ZMPSTE24	HP:0001824	Weight loss
10269	ZMPSTE24	HP:0001838	Rocker bottom foot
10269	ZMPSTE24	HP:0000506	Telecanthus
10269	ZMPSTE24	HP:0001810	Dystrophic toenail
10269	ZMPSTE24	HP:0000581	Blepharophimosis
10269	ZMPSTE24	HP:0012569	Delayed menarche
10269	ZMPSTE24	HP:0000586	Shallow orbits
10269	ZMPSTE24	HP:0000561	Absent eyelashes
10269	ZMPSTE24	HP:0001870	Acroosteolysis of distal phalanges (feet)
10273	STUB1	HP:0001181	Adducted thumb
10273	STUB1	HP:0001152	Saccadic smooth pursuit
10273	STUB1	HP:0001166	Arachnodactyly
10273	STUB1	HP:0001105	Retinal atrophy
10273	STUB1	HP:0001272	Cerebellar atrophy
10273	STUB1	HP:0001268	Mental deterioration
10273	STUB1	HP:0001288	Gait disturbance
10273	STUB1	HP:0001250	Seizure
10273	STUB1	HP:0001251	Ataxia
10273	STUB1	HP:0001260	Dysarthria
10273	STUB1	HP:0001263	Global developmental delay
10273	STUB1	HP:0001257	Spasticity
10273	STUB1	HP:0007371	Corpus callosum atrophy
10273	STUB1	HP:0000020	Urinary incontinence
10273	STUB1	HP:0002679	Abnormal sella turcica morphology
10273	STUB1	HP:0001347	Hyperreflexia
10273	STUB1	HP:0001332	Dystonia
10273	STUB1	HP:0000007	Autosomal recessive inheritance
10273	STUB1	HP:0001337	Tremor
10273	STUB1	HP:0000006	Autosomal dominant inheritance
10273	STUB1	HP:0001310	Dysmetria
10273	STUB1	HP:0001321	Cerebellar hypoplasia
10273	STUB1	HP:0001300	Parkinsonism
10273	STUB1	HP:0000135	Hypogonadism
10273	STUB1	HP:0012104	Parietal cortical atrophy
10273	STUB1	HP:0012110	Hypoplasia of the pons
10273	STUB1	HP:0002015	Dysphagia
10273	STUB1	HP:0005978	Type II diabetes mellitus
10273	STUB1	HP:0100543	Cognitive impairment
10273	STUB1	HP:0002069	Bilateral tonic-clonic seizure
10273	STUB1	HP:0002066	Gait ataxia
10273	STUB1	HP:0002063	Rigidity
10273	STUB1	HP:0002061	Lower limb spasticity
10273	STUB1	HP:0002078	Truncal ataxia
10273	STUB1	HP:0002072	Chorea
10273	STUB1	HP:0002070	Limb ataxia
10273	STUB1	HP:0003487	Babinski sign
10273	STUB1	HP:0002167	Abnormality of speech or vocalization
10273	STUB1	HP:0002174	Postural tremor
10273	STUB1	HP:0002172	Postural instability
10273	STUB1	HP:0003581	Adult onset
10273	STUB1	HP:0100785	Insomnia
10273	STUB1	HP:0003693	Distal amyotrophy
10273	STUB1	HP:0002378	Hand tremor
10273	STUB1	HP:0003676	Progressive
10273	STUB1	HP:0002355	Difficulty walking
10273	STUB1	HP:0002354	Memory impairment
10273	STUB1	HP:0002346	Head tremor
10273	STUB1	HP:0002317	Unsteady gait
10273	STUB1	HP:0100651	Type I diabetes mellitus
10273	STUB1	HP:0010831	Impaired proprioception
10273	STUB1	HP:0001094	Iridocyclitis
10273	STUB1	HP:0006801	Hyperactive deep tendon reflexes
10273	STUB1	HP:0000640	Gaze-evoked nystagmus
10273	STUB1	HP:0000639	Nystagmus
10273	STUB1	HP:0000602	Ophthalmoplegia
10273	STUB1	HP:0000657	Oculomotor apraxia
10273	STUB1	HP:0001999	Abnormal facial shape
10273	STUB1	HP:0000666	Horizontal nystagmus
10273	STUB1	HP:0004326	Cachexia
10273	STUB1	HP:0000737	Irritability
10273	STUB1	HP:0000739	Anxiety
10273	STUB1	HP:0000716	Depression
10273	STUB1	HP:0011448	Ankle clonus
10273	STUB1	HP:0000789	Infertility
10273	STUB1	HP:0000876	Oligomenorrhea
10273	STUB1	HP:0000821	Hypothyroidism
10273	STUB1	HP:0012896	Abnormal motor evoked potentials
10273	STUB1	HP:0001596	Alopecia
10273	STUB1	HP:0011098	Speech apraxia
10273	STUB1	HP:0000365	Hearing impairment
10273	STUB1	HP:0005328	Progeroid facial appearance
10273	STUB1	HP:0001733	Pancreatitis
10273	STUB1	HP:0000501	Glaucoma
10273	STUB1	HP:0012569	Delayed menarche
10273	STUB1	HP:0012547	Abnormal involuntary eye movements
10273	STUB1	HP:0000544	External ophthalmoplegia
10274	STAG1	HP:0001195	Single umbilical artery
10274	STAG1	HP:0010880	Increased nuchal translucency
10274	STAG1	HP:0010864	Intellectual disability, severe
10274	STAG1	HP:0001250	Seizure
10274	STAG1	HP:0001252	Hypotonia
10274	STAG1	HP:0001249	Intellectual disability
10274	STAG1	HP:0001263	Global developmental delay
10274	STAG1	HP:0002558	Supernumerary nipple
10274	STAG1	HP:0000085	Horseshoe kidney
10274	STAG1	HP:0001377	Limited elbow extension
10274	STAG1	HP:0001388	Joint laxity
10274	STAG1	HP:0000050	Hypoplastic male external genitalia
10274	STAG1	HP:0000028	Cryptorchidism
10274	STAG1	HP:0000006	Autosomal dominant inheritance
10274	STAG1	HP:0002650	Scoliosis
10274	STAG1	HP:0001319	Neonatal hypotonia
10274	STAG1	HP:0000154	Wide mouth
10274	STAG1	HP:0006304	Widely-spaced incisors
10274	STAG1	HP:0002020	Gastroesophageal reflux
10274	STAG1	HP:0004691	2-3 toe syndactyly
10274	STAG1	HP:0002059	Cerebral atrophy
10274	STAG1	HP:0003593	Infantile onset
10274	STAG1	HP:0003577	Congenital onset
10274	STAG1	HP:0200134	Epileptic encephalopathy
10274	STAG1	HP:0011968	Feeding difficulties
10274	STAG1	HP:0007099	Chiari type I malformation
10274	STAG1	HP:0003623	Neonatal onset
10274	STAG1	HP:0004209	Clinodactyly of the 5th finger
10274	STAG1	HP:0001999	Abnormal facial shape
10274	STAG1	HP:0000664	Synophrys
10274	STAG1	HP:0004322	Short stature
10274	STAG1	HP:0000750	Delayed speech and language development
10274	STAG1	HP:0000729	Autistic behavior
10274	STAG1	HP:0045074	Thin eyebrow
10274	STAG1	HP:0000954	Single transverse palmar crease
10274	STAG1	HP:0000965	Cutis marmorata
10274	STAG1	HP:0002817	Abnormality of the upper limb
10274	STAG1	HP:0001566	Widely-spaced maxillary central incisors
10274	STAG1	HP:0000252	Microcephaly
10274	STAG1	HP:0000218	High palate
10274	STAG1	HP:0000202	Orofacial cleft
10274	STAG1	HP:0001508	Failure to thrive
10274	STAG1	HP:0001518	Small for gestational age
10274	STAG1	HP:0001511	Intrauterine growth retardation
10274	STAG1	HP:0000369	Low-set ears
10274	STAG1	HP:0000347	Micrognathia
10274	STAG1	HP:0001629	Ventricular septal defect
10274	STAG1	HP:0000486	Strabismus
10274	STAG1	HP:0000490	Deeply set eye
10274	STAG1	HP:0012444	Brain atrophy
10274	STAG1	HP:0000426	Prominent nasal bridge
10274	STAG1	HP:0000527	Long eyelashes
10277	UBE4B	HP:0001156	Brachydactyly
10277	UBE4B	HP:0002465	Poor speech
10277	UBE4B	HP:0001107	Ocular albinism
10277	UBE4B	HP:0008551	Microtia
10277	UBE4B	HP:0001274	Agenesis of corpus callosum
10277	UBE4B	HP:0001288	Gait disturbance
10277	UBE4B	HP:0001250	Seizure
10277	UBE4B	HP:0001252	Hypotonia
10277	UBE4B	HP:0001249	Intellectual disability
10277	UBE4B	HP:0002591	Polyphagia
10277	UBE4B	HP:0001263	Global developmental delay
10277	UBE4B	HP:0008736	Hypoplasia of penis
10277	UBE4B	HP:0001397	Hepatic steatosis
10277	UBE4B	HP:0001392	Abnormality of the liver
10277	UBE4B	HP:0000077	Abnormality of the kidney
10277	UBE4B	HP:0000055	Abnormality of female external genitalia
10277	UBE4B	HP:0001385	Hip dysplasia
10277	UBE4B	HP:0001387	Joint stiffness
10277	UBE4B	HP:0000047	Hypospadias
10277	UBE4B	HP:0000028	Cryptorchidism
10277	UBE4B	HP:0008872	Feeding difficulties in infancy
10277	UBE4B	HP:0001344	Absent speech
10277	UBE4B	HP:0002650	Scoliosis
10277	UBE4B	HP:0000160	Narrow mouth
10277	UBE4B	HP:0000135	Hypogonadism
10277	UBE4B	HP:0000126	Hydronephrosis
10277	UBE4B	HP:0000107	Renal cyst
10277	UBE4B	HP:0002715	Abnormality of the immune system
10277	UBE4B	HP:0002021	Pyloric stenosis
10277	UBE4B	HP:0002020	Gastroesophageal reflux
10277	UBE4B	HP:0002019	Constipation
10277	UBE4B	HP:0002015	Dysphagia
10277	UBE4B	HP:0002007	Frontal bossing
10277	UBE4B	HP:0011800	Midface retrusion
10277	UBE4B	HP:0100559	Lower limb asymmetry
10277	UBE4B	HP:0002120	Cerebral cortical atrophy
10277	UBE4B	HP:0002119	Ventriculomegaly
10277	UBE4B	HP:0003416	Spinal canal stenosis
10277	UBE4B	HP:0002167	Abnormality of speech or vocalization
10277	UBE4B	HP:0100490	Camptodactyly of finger
10277	UBE4B	HP:0002242	Abnormal intestine morphology
10277	UBE4B	HP:0100716	Self-injurious behavior
10277	UBE4B	HP:0002230	Generalized hirsutism
10277	UBE4B	HP:0001009	Telangiectasia
10277	UBE4B	HP:0002353	EEG abnormality
10277	UBE4B	HP:0008499	High hypermetropia
10277	UBE4B	HP:0004209	Clinodactyly of the 5th finger
10277	UBE4B	HP:0006824	Cranial nerve paralysis
10277	UBE4B	HP:0000639	Nystagmus
10277	UBE4B	HP:0000648	Optic atrophy
10277	UBE4B	HP:0004322	Short stature
10277	UBE4B	HP:0030680	Abnormality of cardiovascular system morphology
10277	UBE4B	HP:0004378	Abnormality of the anus
10277	UBE4B	HP:0004374	Hemiplegia/hemiparesis
10277	UBE4B	HP:0003006	Neuroblastoma
10277	UBE4B	HP:0012733	Macule
10277	UBE4B	HP:0000733	Abnormal repetitive mannerisms
10277	UBE4B	HP:0000750	Delayed speech and language development
10277	UBE4B	HP:0000717	Autism
10277	UBE4B	HP:0000708	Atypical behavior
10277	UBE4B	HP:0003198	Myopathy
10277	UBE4B	HP:0000902	Rib fusion
10277	UBE4B	HP:0000878	11 pairs of ribs
10277	UBE4B	HP:0000892	Bifid ribs
10277	UBE4B	HP:0000821	Hypothyroidism
10277	UBE4B	HP:0008066	Abnormal blistering of the skin
10277	UBE4B	HP:0000286	Epicanthus
10277	UBE4B	HP:0000270	Delayed cranial suture closure
10277	UBE4B	HP:0005113	Aortic arch aneurysm
10277	UBE4B	HP:0002808	Kyphosis
10277	UBE4B	HP:0000252	Microcephaly
10277	UBE4B	HP:0000248	Brachycephaly
10277	UBE4B	HP:0001508	Failure to thrive
10277	UBE4B	HP:0001513	Obesity
10277	UBE4B	HP:0000368	Low-set, posteriorly rotated ears
10277	UBE4B	HP:0001671	Abnormal cardiac septum morphology
10277	UBE4B	HP:0000343	Long philtrum
10277	UBE4B	HP:0001643	Patent ductus arteriosus
10277	UBE4B	HP:0001644	Dilated cardiomyopathy
10277	UBE4B	HP:0001654	Abnormal heart valve morphology
10277	UBE4B	HP:0001636	Tetralogy of Fallot
10277	UBE4B	HP:0000307	Pointed chin
10277	UBE4B	HP:0000407	Sensorineural hearing impairment
10277	UBE4B	HP:0001734	Annular pancreas
10277	UBE4B	HP:0000405	Conductive hearing impairment
10277	UBE4B	HP:0005280	Depressed nasal bridge
10277	UBE4B	HP:0000486	Strabismus
10277	UBE4B	HP:0000490	Deeply set eye
10277	UBE4B	HP:0000464	Abnormality of the neck
10277	UBE4B	HP:0000457	Depressed nasal ridge
10277	UBE4B	HP:0001773	Short foot
10277	UBE4B	HP:0001743	Abnormality of the spleen
10277	UBE4B	HP:0000431	Wide nasal bridge
10277	UBE4B	HP:0000518	Cataract
10277	UBE4B	HP:0001829	Foot polydactyly
10277	UBE4B	HP:0000505	Visual impairment
10277	UBE4B	HP:0000504	Abnormality of vision
10277	UBE4B	HP:0011228	Horizontal eyebrow
10277	UBE4B	HP:0000534	Abnormal eyebrow morphology
10280	SIGMAR1	HP:0002483	Bulbar signs
10280	SIGMAR1	HP:0002460	Distal muscle weakness
10280	SIGMAR1	HP:0007269	Spinal muscular atrophy
10280	SIGMAR1	HP:0002425	Anarthria
10280	SIGMAR1	HP:0003722	Neck flexor weakness
10280	SIGMAR1	HP:0003701	Proximal muscle weakness
10280	SIGMAR1	HP:0001276	Hypertonia
10280	SIGMAR1	HP:0002599	Head titubation
10280	SIGMAR1	HP:0001251	Ataxia
10280	SIGMAR1	HP:0001264	Spastic diplegia
10280	SIGMAR1	HP:0001263	Global developmental delay
10280	SIGMAR1	HP:0007354	Amyotrophic lateral sclerosis
10280	SIGMAR1	HP:0007340	Lower limb muscle weakness
10280	SIGMAR1	HP:0002540	Inability to walk
10280	SIGMAR1	HP:0002544	Retrocollis
10280	SIGMAR1	HP:0002530	Axial dystonia
10280	SIGMAR1	HP:0002505	Loss of ambulation
10280	SIGMAR1	HP:0012048	Oromandibular dystonia
10280	SIGMAR1	HP:0000020	Urinary incontinence
10280	SIGMAR1	HP:0001348	Brisk reflexes
10280	SIGMAR1	HP:0001347	Hyperreflexia
10280	SIGMAR1	HP:0001332	Dystonia
10280	SIGMAR1	HP:0001324	Muscle weakness
10280	SIGMAR1	HP:0000007	Autosomal recessive inheritance
10280	SIGMAR1	HP:0002650	Scoliosis
10280	SIGMAR1	HP:0001317	Abnormal cerebellum morphology
10280	SIGMAR1	HP:0001300	Parkinsonism
10280	SIGMAR1	HP:0002015	Dysphagia
10280	SIGMAR1	HP:0100543	Cognitive impairment
10280	SIGMAR1	HP:0002061	Lower limb spasticity
10280	SIGMAR1	HP:0002072	Chorea
10280	SIGMAR1	HP:0003487	Babinski sign
10280	SIGMAR1	HP:0003431	Decreased motor nerve conduction velocity
10280	SIGMAR1	HP:0003429	CNS hypomyelination
10280	SIGMAR1	HP:0003438	Absent Achilles reflex
10280	SIGMAR1	HP:0002169	Clonus
10280	SIGMAR1	HP:0002167	Abnormality of speech or vocalization
10280	SIGMAR1	HP:0002179	Opisthotonus
10280	SIGMAR1	HP:0033383	Decreased compound muscle action potential amplitude
10280	SIGMAR1	HP:0007083	Hyperactive patellar reflex
10280	SIGMAR1	HP:0003693	Distal amyotrophy
10280	SIGMAR1	HP:0003676	Progressive
10280	SIGMAR1	HP:0002355	Difficulty walking
10280	SIGMAR1	HP:0003677	Slowly progressive
10280	SIGMAR1	HP:0003621	Juvenile onset
10280	SIGMAR1	HP:0000639	Nystagmus
10280	SIGMAR1	HP:0000605	Supranuclear gaze palsy
10280	SIGMAR1	HP:0009027	Foot dorsiflexor weakness
10280	SIGMAR1	HP:0009005	Weakness of the intrinsic hand muscles
10280	SIGMAR1	HP:0006986	Upper limb spasticity
10280	SIGMAR1	HP:0004326	Cachexia
10280	SIGMAR1	HP:0031960	Arm dystonia
10280	SIGMAR1	HP:0031936	Delayed ability to walk
10280	SIGMAR1	HP:0000708	Atypical behavior
10280	SIGMAR1	HP:0011471	Gastrostomy tube feeding in infancy
10280	SIGMAR1	HP:0011463	Childhood onset
10280	SIGMAR1	HP:0005750	Lower-limb joint contracture
10280	SIGMAR1	HP:0100360	Upper-limb joint contracture
10280	SIGMAR1	HP:0003202	Skeletal muscle atrophy
10280	SIGMAR1	HP:0034337	Claw hand deformity
10280	SIGMAR1	HP:0100295	Muscle fiber atrophy
10280	SIGMAR1	HP:0000252	Microcephaly
10280	SIGMAR1	HP:0030051	Tip-toe gait
10280	SIGMAR1	HP:0001765	Hammertoe
10280	SIGMAR1	HP:0001761	Pes cavus
10283	CWC27	HP:0001156	Brachydactyly
10283	CWC27	HP:0001123	Visual field defect
10283	CWC27	HP:0025159	Hypoautofluorescent retinal lesion
10283	CWC27	HP:0009890	High anterior hairline
10283	CWC27	HP:0009882	Short distal phalanx of finger
10283	CWC27	HP:0001249	Intellectual disability
10283	CWC27	HP:0001263	Global developmental delay
10283	CWC27	HP:0000085	Horseshoe kidney
10283	CWC27	HP:0000023	Inguinal hernia
10283	CWC27	HP:0001363	Craniosynostosis
10283	CWC27	HP:0000028	Cryptorchidism
10283	CWC27	HP:0000007	Autosomal recessive inheritance
10283	CWC27	HP:0001319	Neonatal hypotonia
10283	CWC27	HP:0000107	Renal cyst
10283	CWC27	HP:0002007	Frontal bossing
10283	CWC27	HP:0002120	Cerebral cortical atrophy
10283	CWC27	HP:0002194	Delayed gross motor development
10283	CWC27	HP:0002223	Absent eyebrow
10283	CWC27	HP:0011968	Feeding difficulties
10283	CWC27	HP:0007099	Chiari type I malformation
10283	CWC27	HP:0002342	Intellectual disability, moderate
10283	CWC27	HP:0010761	Broad columella
10283	CWC27	HP:0030455	Abnormality of pattern visual evoked potentials
10283	CWC27	HP:0010049	Short metacarpal
10283	CWC27	HP:0000662	Nyctalopia
10283	CWC27	HP:0000653	Sparse eyelashes
10283	CWC27	HP:0001999	Abnormal facial shape
10283	CWC27	HP:0004322	Short stature
10283	CWC27	HP:0031936	Delayed ability to walk
10283	CWC27	HP:0000750	Delayed speech and language development
10283	CWC27	HP:0000707	Abnormality of the nervous system
10283	CWC27	HP:0000818	Abnormality of the endocrine system
10283	CWC27	HP:0005871	Metaphyseal chondrodysplasia
10283	CWC27	HP:0045075	Sparse eyebrow
10283	CWC27	HP:0100255	Metaphyseal dysplasia
10283	CWC27	HP:0000957	Cafe-au-lait spot
10283	CWC27	HP:0008070	Sparse hair
10283	CWC27	HP:0008064	Ichthyosis
10283	CWC27	HP:0001596	Alopecia
10283	CWC27	HP:0000256	Macrocephaly
10283	CWC27	HP:0001511	Intrauterine growth retardation
10283	CWC27	HP:0000369	Low-set ears
10283	CWC27	HP:0000347	Micrognathia
10283	CWC27	HP:0030148	Heart murmur
10283	CWC27	HP:0001629	Ventricular septal defect
10283	CWC27	HP:0005345	Abnormal vena cava morphology
10283	CWC27	HP:0007994	Peripheral visual field loss
10283	CWC27	HP:0000400	Macrotia
10283	CWC27	HP:0012471	Thick vermilion border
10283	CWC27	HP:0000494	Downslanted palpebral fissures
10283	CWC27	HP:0001792	Small nail
10283	CWC27	HP:0001763	Pes planus
10283	CWC27	HP:0000430	Underdeveloped nasal alae
10283	CWC27	HP:0000510	Rod-cone dystrophy
10283	CWC27	HP:0000512	Abnormal electroretinogram
10283	CWC27	HP:0001822	Hallux valgus
10283	CWC27	HP:0000561	Absent eyelashes
10283	CWC27	HP:0000546	Retinal degeneration
10290	SPEG	HP:0003701	Proximal muscle weakness
10290	SPEG	HP:0003700	Generalized amyotrophy
10290	SPEG	HP:0001290	Generalized hypotonia
10290	SPEG	HP:0100807	Long fingers
10290	SPEG	HP:0001270	Motor delay
10290	SPEG	HP:0001284	Areflexia
10290	SPEG	HP:0001256	Intellectual disability, mild
10290	SPEG	HP:0001260	Dysarthria
10290	SPEG	HP:0002515	Waddling gait
10290	SPEG	HP:0003803	Type 1 muscle fiber predominance
10290	SPEG	HP:0001349	Facial diplegia
10290	SPEG	HP:0001324	Muscle weakness
10290	SPEG	HP:0000007	Autosomal recessive inheritance
10290	SPEG	HP:0000193	Bifid uvula
10290	SPEG	HP:0000160	Narrow mouth
10290	SPEG	HP:0008936	Axial hypotonia
10290	SPEG	HP:0003327	Axial muscle weakness
10290	SPEG	HP:0003307	Hyperlordosis
10290	SPEG	HP:0003323	Progressive muscle weakness
10290	SPEG	HP:0002093	Respiratory insufficiency
10290	SPEG	HP:0003391	Gowers sign
10290	SPEG	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
10290	SPEG	HP:0003593	Infantile onset
10290	SPEG	HP:0003551	Difficulty climbing stairs
10290	SPEG	HP:0010628	Facial palsy
10290	SPEG	HP:0003691	Scapular winging
10290	SPEG	HP:0003687	Centrally nucleated skeletal muscle fibers
10290	SPEG	HP:0000602	Ophthalmoplegia
10290	SPEG	HP:0009046	Difficulty running
10290	SPEG	HP:0001999	Abnormal facial shape
10290	SPEG	HP:0000750	Delayed speech and language development
10290	SPEG	HP:0040081	Abnormal circulating creatine kinase concentration
10290	SPEG	HP:0003273	Hip contracture
10290	SPEG	HP:0000278	Retrognathia
10290	SPEG	HP:0000276	Long face
10290	SPEG	HP:0000218	High palate
10290	SPEG	HP:0001618	Dysphonia
10290	SPEG	HP:0000347	Micrognathia
10290	SPEG	HP:0001644	Dilated cardiomyopathy
10290	SPEG	HP:0001654	Abnormal heart valve morphology
10290	SPEG	HP:0001653	Mitral regurgitation
10290	SPEG	HP:0030319	Weakness of facial musculature
10290	SPEG	HP:0001712	Left ventricular hypertrophy
10290	SPEG	HP:0000411	Protruding ear
10290	SPEG	HP:0001762	Talipes equinovarus
10290	SPEG	HP:0001761	Pes cavus
10290	SPEG	HP:0000597	Ophthalmoparesis
10293	TRAIP	HP:0008633	Agonadism
10293	TRAIP	HP:0009879	Simplified gyral pattern
10293	TRAIP	HP:0001249	Intellectual disability
10293	TRAIP	HP:0001263	Global developmental delay
10293	TRAIP	HP:0008665	Clitoral hypertrophy
10293	TRAIP	HP:0000062	Ambiguous genitalia
10293	TRAIP	HP:0001385	Hip dysplasia
10293	TRAIP	HP:0001363	Craniosynostosis
10293	TRAIP	HP:0007495	Prematurely aged appearance
10293	TRAIP	HP:0000010	Recurrent urinary tract infections
10293	TRAIP	HP:0000007	Autosomal recessive inheritance
10293	TRAIP	HP:0002650	Scoliosis
10293	TRAIP	HP:0002750	Delayed skeletal maturation
10293	TRAIP	HP:0100543	Cognitive impairment
10293	TRAIP	HP:0002099	Asthma
10293	TRAIP	HP:0002119	Ventriculomegaly
10293	TRAIP	HP:0010579	Cone-shaped epiphysis
10293	TRAIP	HP:0002209	Sparse scalp hair
10293	TRAIP	HP:0002205	Recurrent respiratory infections
10293	TRAIP	HP:0009804	Tooth agenesis
10293	TRAIP	HP:0004971	Pulmonary artery hypoplasia
10293	TRAIP	HP:0004209	Clinodactyly of the 5th finger
10293	TRAIP	HP:0000682	Abnormal dental enamel morphology
10293	TRAIP	HP:0011342	Mild global developmental delay
10293	TRAIP	HP:0004322	Short stature
10293	TRAIP	HP:0004326	Cachexia
10293	TRAIP	HP:0005692	Joint hyperflexibility
10293	TRAIP	HP:0011461	Fetal onset
10293	TRAIP	HP:0000776	Congenital diaphragmatic hernia
10293	TRAIP	HP:0030799	Scaphocephaly
10293	TRAIP	HP:0000998	Hypertrichosis
10293	TRAIP	HP:0000275	Narrow face
10293	TRAIP	HP:0000276	Long face
10293	TRAIP	HP:0000268	Dolichocephaly
10293	TRAIP	HP:0000252	Microcephaly
10293	TRAIP	HP:0001561	Polyhydramnios
10293	TRAIP	HP:0001558	Decreased fetal movement
10293	TRAIP	HP:0001518	Small for gestational age
10293	TRAIP	HP:0001511	Intrauterine growth retardation
10293	TRAIP	HP:0000387	Absent earlobe
10293	TRAIP	HP:0000363	Abnormal earlobe morphology
10293	TRAIP	HP:0000347	Micrognathia
10293	TRAIP	HP:0001629	Ventricular septal defect
10293	TRAIP	HP:0001631	Atrial septal defect
10293	TRAIP	HP:0000494	Downslanted palpebral fissures
10293	TRAIP	HP:0000444	Convex nasal ridge
10293	TRAIP	HP:0000411	Protruding ear
10293	TRAIP	HP:0001762	Talipes equinovarus
10293	TRAIP	HP:0001852	Sandal gap
10293	TRAIP	HP:0000501	Glaucoma
10295	BCKDK	HP:0010892	Abnormal circulating branched chain amino acid concentration
10295	BCKDK	HP:0001250	Seizure
10295	BCKDK	HP:0001249	Intellectual disability
10295	BCKDK	HP:0000717	Autism
10297	APC2	HP:0001176	Large hands
10297	APC2	HP:0001156	Brachydactyly
10297	APC2	HP:0002465	Poor speech
10297	APC2	HP:0002442	Dyscalculia
10297	APC2	HP:0010957	Congenital posterior urethral valve
10297	APC2	HP:0010862	Delayed fine motor development
10297	APC2	HP:0010864	Intellectual disability, severe
10297	APC2	HP:0001276	Hypertonia
10297	APC2	HP:0001256	Intellectual disability, mild
10297	APC2	HP:0001250	Seizure
10297	APC2	HP:0001252	Hypotonia
10297	APC2	HP:0001249	Intellectual disability
10297	APC2	HP:0001263	Global developmental delay
10297	APC2	HP:0410263	Brain imaging abnormality
10297	APC2	HP:0032390	Periventricular ribbonlike heterotopia
10297	APC2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10297	APC2	HP:0002521	Hypsarrhythmia
10297	APC2	HP:0002510	Spastic tetraplegia
10297	APC2	HP:0000083	Renal insufficiency
10297	APC2	HP:0000098	Tall stature
10297	APC2	HP:0000077	Abnormality of the kidney
10297	APC2	HP:0000076	Vesicoureteral reflux
10297	APC2	HP:0000073	Ureteral duplication
10297	APC2	HP:0000074	Ureteropelvic junction obstruction
10297	APC2	HP:0001371	Flexion contracture
10297	APC2	HP:0001388	Joint laxity
10297	APC2	HP:0000047	Hypospadias
10297	APC2	HP:0000023	Inguinal hernia
10297	APC2	HP:0001363	Craniosynostosis
10297	APC2	HP:0000034	Hydrocele testis
10297	APC2	HP:0000028	Cryptorchidism
10297	APC2	HP:0002664	Neoplasm
10297	APC2	HP:0001339	Lissencephaly
10297	APC2	HP:0000007	Autosomal recessive inheritance
10297	APC2	HP:0001337	Tremor
10297	APC2	HP:0001320	Cerebellar vermis hypoplasia
10297	APC2	HP:0002650	Scoliosis
10297	APC2	HP:0001321	Cerebellar hypoplasia
10297	APC2	HP:0032447	Pulmonary bleb
10297	APC2	HP:0000189	Narrow palate
10297	APC2	HP:0000164	Abnormality of the dentition
10297	APC2	HP:0000144	Decreased fertility
10297	APC2	HP:0031284	Flushing
10297	APC2	HP:0012110	Hypoplasia of the pons
10297	APC2	HP:0000126	Hydronephrosis
10297	APC2	HP:0000104	Renal agenesis
10297	APC2	HP:0002020	Gastroesophageal reflux
10297	APC2	HP:0002019	Constipation
10297	APC2	HP:0004691	2-3 toe syndactyly
10297	APC2	HP:0002069	Bilateral tonic-clonic seizure
10297	APC2	HP:0002079	Hypoplasia of the corpus callosum
10297	APC2	HP:0002059	Cerebral atrophy
10297	APC2	HP:0003468	Abnormal vertebral morphology
10297	APC2	HP:0002123	Generalized myoclonic seizure
10297	APC2	HP:0002121	Generalized non-motor (absence) seizure
10297	APC2	HP:0002119	Ventriculomegaly
10297	APC2	HP:0004768	Sparse anterior scalp hair
10297	APC2	HP:0002197	Generalized-onset seizure
10297	APC2	HP:0002194	Delayed gross motor development
10297	APC2	HP:0009592	Astrocytoma
10297	APC2	HP:0003593	Infantile onset
10297	APC2	HP:0002251	Aganglionic megacolon
10297	APC2	HP:0002280	Enlarged cisterna magna
10297	APC2	HP:0007018	Attention deficit hyperactivity disorder
10297	APC2	HP:0011968	Feeding difficulties
10297	APC2	HP:0002389	Cavum septum pellucidum
10297	APC2	HP:0002384	Focal impaired awareness seizure
10297	APC2	HP:0002392	EEG with polyspike wave complexes
10297	APC2	HP:0002365	Hypoplasia of the brainstem
10297	APC2	HP:0001028	Hemangioma
10297	APC2	HP:0002370	Poor coordination
10297	APC2	HP:0002342	Intellectual disability, moderate
10297	APC2	HP:0001010	Hypopigmentation of the skin
10297	APC2	HP:0008498	No permanent dentition
10297	APC2	HP:0009797	Cholesteatoma
10297	APC2	HP:0010741	Pedal edema
10297	APC2	HP:0004942	Aortic aneurysm
10297	APC2	HP:0006891	Thick cerebral cortex
10297	APC2	HP:0000639	Nystagmus
10297	APC2	HP:0000696	Delayed eruption of permanent teeth
10297	APC2	HP:0000668	Hypodontia
10297	APC2	HP:0001998	Neonatal hypoglycemia
10297	APC2	HP:0005617	Bilateral camptodactyly
10297	APC2	HP:0005616	Accelerated skeletal maturation
10297	APC2	HP:0003072	Hypercalcemia
10297	APC2	HP:0003006	Neuroblastoma
10297	APC2	HP:0400000	Tall chin
10297	APC2	HP:0000752	Hyperactivity
10297	APC2	HP:0000767	Pectus excavatum
10297	APC2	HP:0000739	Anxiety
10297	APC2	HP:0000750	Delayed speech and language development
10297	APC2	HP:0000718	Aggressive behavior
10297	APC2	HP:0000729	Autistic behavior
10297	APC2	HP:0000708	Atypical behavior
10297	APC2	HP:0011463	Childhood onset
10297	APC2	HP:0012771	Increased arm span
10297	APC2	HP:0030736	Sacrococcygeal teratoma
10297	APC2	HP:0004482	Relative macrocephaly
10297	APC2	HP:0000821	Hypothyroidism
10297	APC2	HP:0003273	Hip contracture
10297	APC2	HP:0000953	Hyperpigmentation of the skin
10297	APC2	HP:0040194	Increased head circumference
10297	APC2	HP:0000280	Coarse facial features
10297	APC2	HP:0000256	Macrocephaly
10297	APC2	HP:0000275	Narrow face
10297	APC2	HP:0000276	Long face
10297	APC2	HP:0000268	Dolichocephaly
10297	APC2	HP:0006466	Ankle flexion contracture
10297	APC2	HP:0002808	Kyphosis
10297	APC2	HP:0001537	Umbilical hernia
10297	APC2	HP:0000389	Chronic otitis media
10297	APC2	HP:0006579	Prolonged neonatal jaundice
10297	APC2	HP:0000365	Hearing impairment
10297	APC2	HP:0032794	Myoclonic seizure
10297	APC2	HP:0001643	Patent ductus arteriosus
10297	APC2	HP:0001629	Ventricular septal defect
10297	APC2	HP:0001627	Abnormal heart morphology
10297	APC2	HP:0001631	Atrial septal defect
10297	APC2	HP:0000303	Mandibular prognathia
10297	APC2	HP:0000405	Conductive hearing impairment
10297	APC2	HP:0000483	Astigmatism
10297	APC2	HP:0000486	Strabismus
10297	APC2	HP:0012469	Infantile spasms
10297	APC2	HP:0000494	Downslanted palpebral fissures
10297	APC2	HP:0001792	Small nail
10297	APC2	HP:0012434	Delayed social development
10297	APC2	HP:0001763	Pes planus
10297	APC2	HP:0000448	Prominent nose
10297	APC2	HP:0001741	Phimosis
10297	APC2	HP:0001762	Talipes equinovarus
10297	APC2	HP:0000431	Wide nasal bridge
10297	APC2	HP:0006721	Acute lymphoblastic leukemia
10297	APC2	HP:0000518	Cataract
10297	APC2	HP:0030357	Small cell lung carcinoma
10297	APC2	HP:0011220	Prominent forehead
10297	APC2	HP:0000540	Hypermetropia
10297	APC2	HP:0000545	Myopia
10299	MARCHF6	HP:0010852	EEG with photoparoxysmal response
10299	MARCHF6	HP:0001249	Intellectual disability
10299	MARCHF6	HP:0007359	Focal-onset seizure
10299	MARCHF6	HP:0001351	Jerk-locked premyoclonus spikes
10299	MARCHF6	HP:0001340	Enhancement of the C-reflex
10299	MARCHF6	HP:0001337	Tremor
10299	MARCHF6	HP:0000006	Autosomal dominant inheritance
10299	MARCHF6	HP:0001336	Myoclonus
10299	MARCHF6	HP:0001312	Giant somatosensory evoked potentials
10299	MARCHF6	HP:0002069	Bilateral tonic-clonic seizure
10299	MARCHF6	HP:0100576	Amaurosis fugax
10299	MARCHF6	HP:0002197	Generalized-onset seizure
10299	MARCHF6	HP:0003581	Adult onset
10299	MARCHF6	HP:0002378	Hand tremor
10299	MARCHF6	HP:0002355	Difficulty walking
10299	MARCHF6	HP:0002353	EEG abnormality
10299	MARCHF6	HP:0003680	Nonprogressive
10299	MARCHF6	HP:0002315	Headache
10299	MARCHF6	HP:0011463	Childhood onset
10300	KATNB1	HP:0001182	Tapered finger
10300	KATNB1	HP:0001181	Adducted thumb
10300	KATNB1	HP:0009879	Simplified gyral pattern
10300	KATNB1	HP:0001272	Cerebellar atrophy
10300	KATNB1	HP:0001274	Agenesis of corpus callosum
10300	KATNB1	HP:0001270	Motor delay
10300	KATNB1	HP:0001250	Seizure
10300	KATNB1	HP:0001249	Intellectual disability
10300	KATNB1	HP:0001263	Global developmental delay
10300	KATNB1	HP:0001257	Spasticity
10300	KATNB1	HP:0002514	Cerebral calcification
10300	KATNB1	HP:0002509	Limb hypertonia
10300	KATNB1	HP:0003808	Abnormal muscle tone
10300	KATNB1	HP:0002683	Abnormal calvaria morphology
10300	KATNB1	HP:0001347	Hyperreflexia
10300	KATNB1	HP:0001339	Lissencephaly
10300	KATNB1	HP:0001338	Partial agenesis of the corpus callosum
10300	KATNB1	HP:0000007	Autosomal recessive inheritance
10300	KATNB1	HP:0001302	Pachygyria
10300	KATNB1	HP:0000154	Wide mouth
10300	KATNB1	HP:0006270	Hypoplastic spleen
10300	KATNB1	HP:0002015	Dysphagia
10300	KATNB1	HP:0002098	Respiratory distress
10300	KATNB1	HP:0002079	Hypoplasia of the corpus callosum
10300	KATNB1	HP:0002119	Ventriculomegaly
10300	KATNB1	HP:0002126	Polymicrogyria
10300	KATNB1	HP:0002269	Abnormality of neuronal migration
10300	KATNB1	HP:0003577	Congenital onset
10300	KATNB1	HP:0002280	Enlarged cisterna magna
10300	KATNB1	HP:0011968	Feeding difficulties
10300	KATNB1	HP:0007165	Periventricular heterotopia
10300	KATNB1	HP:0006818	4-layered lissencephaly
10300	KATNB1	HP:0011344	Severe global developmental delay
10300	KATNB1	HP:0000687	Widely spaced teeth
10300	KATNB1	HP:0001999	Abnormal facial shape
10300	KATNB1	HP:0000664	Synophrys
10300	KATNB1	HP:0012736	Profound global developmental delay
10300	KATNB1	HP:0011451	Primary microcephaly
10300	KATNB1	HP:0045028	Microlissencephaly
10300	KATNB1	HP:0000954	Single transverse palmar crease
10300	KATNB1	HP:0000268	Dolichocephaly
10300	KATNB1	HP:0000269	Prominent occiput
10300	KATNB1	HP:0000252	Microcephaly
10300	KATNB1	HP:0000219	Thin upper lip vermilion
10300	KATNB1	HP:0001511	Intrauterine growth retardation
10300	KATNB1	HP:0007874	Almond-shaped palpebral fissure
10300	KATNB1	HP:0000369	Low-set ears
10300	KATNB1	HP:0000341	Narrow forehead
10300	KATNB1	HP:0000340	Sloping forehead
10300	KATNB1	HP:0000350	Small forehead
10300	KATNB1	HP:0000316	Hypertelorism
10300	KATNB1	HP:0001655	Patent foramen ovale
10300	KATNB1	HP:0000308	Microretrognathia
10300	KATNB1	HP:0001631	Atrial septal defect
10300	KATNB1	HP:0006610	Wide intermamillary distance
10300	KATNB1	HP:0000400	Macrotia
10300	KATNB1	HP:0000479	Abnormal retinal morphology
10300	KATNB1	HP:0000463	Anteverted nares
10300	KATNB1	HP:0000445	Wide nose
10300	KATNB1	HP:0000414	Bulbous nose
10300	KATNB1	HP:0000431	Wide nasal bridge
10300	KATNB1	HP:0001838	Rocker bottom foot
10309	CCNO	HP:0025177	Peribronchovascular interstitial thickening
10309	CCNO	HP:0002566	Intestinal malrotation
10309	CCNO	HP:0001217	Clubbing
10309	CCNO	HP:0000007	Autosomal recessive inheritance
10309	CCNO	HP:0002643	Neonatal respiratory distress
10309	CCNO	HP:0000119	Abnormality of the genitourinary system
10309	CCNO	HP:0032543	Lithoptysis
10309	CCNO	HP:0031245	Productive cough
10309	CCNO	HP:0002011	Morphological central nervous system abnormality
10309	CCNO	HP:0100582	Nasal polyposis
10309	CCNO	HP:0002119	Ventriculomegaly
10309	CCNO	HP:0002110	Bronchiectasis
10309	CCNO	HP:0008222	Female infertility
10309	CCNO	HP:0002257	Chronic rhinitis
10309	CCNO	HP:0002205	Recurrent respiratory infections
10309	CCNO	HP:0100750	Atelectasis
10309	CCNO	HP:0032016	Abnormal sputum
10309	CCNO	HP:0011947	Respiratory tract infection
10309	CCNO	HP:0003676	Progressive
10309	CCNO	HP:0010772	Anomalous pulmonary venous return
10309	CCNO	HP:0030680	Abnormality of cardiovascular system morphology
10309	CCNO	HP:0000750	Delayed speech and language development
10309	CCNO	HP:0000789	Infertility
10309	CCNO	HP:0000924	Abnormality of the skeletal system
10309	CCNO	HP:0011539	Atrial situs ambiguous
10309	CCNO	HP:0011535	Abnormal atrial arrangement
10309	CCNO	HP:0030828	Wheezing
10309	CCNO	HP:0003251	Male infertility
10309	CCNO	HP:0011617	Pulmonary situs ambiguus
10309	CCNO	HP:0033036	Decreased nasal nitric oxide
10309	CCNO	HP:0025576	Abnormal inferior vena cava morphology
10309	CCNO	HP:0012265	Ciliary dyskinesia
10309	CCNO	HP:0000238	Hydrocephalus
10309	CCNO	HP:0012206	Abnormal sperm motility
10309	CCNO	HP:0002878	Respiratory failure
10309	CCNO	HP:0000389	Chronic otitis media
10309	CCNO	HP:0006536	Airway obstruction
10309	CCNO	HP:0001696	Situs inversus totalis
10309	CCNO	HP:0000365	Hearing impairment
10309	CCNO	HP:0001669	Transposition of the great arteries
10309	CCNO	HP:0031456	Ectopic pregnancy
10309	CCNO	HP:0001627	Abnormal heart morphology
10309	CCNO	HP:0005301	Persistent left superior vena cava
10309	CCNO	HP:0000403	Recurrent otitis media
10309	CCNO	HP:0000405	Conductive hearing impairment
10309	CCNO	HP:0001719	Double outlet right ventricle
10309	CCNO	HP:0011109	Chronic sinusitis
10309	CCNO	HP:0001746	Asplenia
10309	CCNO	HP:0001748	Polysplenia
10309	CCNO	HP:0001742	Nasal congestion
10309	CCNO	HP:0005425	Recurrent sinopulmonary infections
10309	CCNO	HP:0011274	Recurrent mycobacterial infections
10309	CCNO	HP:0000510	Rod-cone dystrophy
10312	TCIRG1	HP:0007209	Facial paralysis
10312	TCIRG1	HP:0001293	Cranial nerve compression
10312	TCIRG1	HP:0001291	Abnormal cranial nerve morphology
10312	TCIRG1	HP:0001281	Tetany
10312	TCIRG1	HP:0001250	Seizure
10312	TCIRG1	HP:0001249	Intellectual disability
10312	TCIRG1	HP:0031035	Chronic infection
10312	TCIRG1	HP:0002514	Cerebral calcification
10312	TCIRG1	HP:0001363	Craniosynostosis
10312	TCIRG1	HP:0002659	Increased susceptibility to fractures
10312	TCIRG1	HP:0000007	Autosomal recessive inheritance
10312	TCIRG1	HP:0001337	Tremor
10312	TCIRG1	HP:0002653	Bone pain
10312	TCIRG1	HP:0000164	Abnormality of the dentition
10312	TCIRG1	HP:0025452	Pyoderma gangrenosum
10312	TCIRG1	HP:0025435	Increased circulating lactate dehydrogenase concentration
10312	TCIRG1	HP:0025439	Pharyngitis
10312	TCIRG1	HP:0000155	Oral ulcer
10312	TCIRG1	HP:0006323	Premature loss of primary teeth
10312	TCIRG1	HP:0410018	Recurrent ear infections
10312	TCIRG1	HP:0002757	Recurrent fractures
10312	TCIRG1	HP:0002756	Pathologic fracture
10312	TCIRG1	HP:0002754	Osteomyelitis
10312	TCIRG1	HP:0001433	Hepatosplenomegaly
10312	TCIRG1	HP:0002718	Recurrent bacterial infections
10312	TCIRG1	HP:0002716	Lymphadenopathy
10312	TCIRG1	HP:0002027	Abdominal pain
10312	TCIRG1	HP:0002014	Diarrhea
10312	TCIRG1	HP:0002007	Frontal bossing
10312	TCIRG1	HP:0004618	Sandwich appearance of vertebral bodies
10312	TCIRG1	HP:0003301	Irregular vertebral endplates
10312	TCIRG1	HP:0002092	Pulmonary arterial hypertension
10312	TCIRG1	HP:0002090	Pneumonia
10312	TCIRG1	HP:0005930	Abnormal epiphysis morphology
10312	TCIRG1	HP:0002148	Hypophosphatemia
10312	TCIRG1	HP:0003453	Antineutrophil antibody positivity
10312	TCIRG1	HP:0004798	Recurrent infection of the gastrointestinal tract
10312	TCIRG1	HP:0002104	Apnea
10312	TCIRG1	HP:0003418	Back pain
10312	TCIRG1	HP:0010543	Opsoclonus
10312	TCIRG1	HP:0003593	Infantile onset
10312	TCIRG1	HP:0002240	Hepatomegaly
10312	TCIRG1	HP:0002257	Chronic rhinitis
10312	TCIRG1	HP:0002205	Recurrent respiratory infections
10312	TCIRG1	HP:0010719	Abnormality of hair texture
10312	TCIRG1	HP:0010628	Facial palsy
10312	TCIRG1	HP:0004808	Acute myeloid leukemia
10312	TCIRG1	HP:0001028	Hemangioma
10312	TCIRG1	HP:0002376	Developmental regression
10312	TCIRG1	HP:0004975	Erlenmeyer flask deformity of the femurs
10312	TCIRG1	HP:0100658	Cellulitis
10312	TCIRG1	HP:0100670	Coarse metaphyseal trabecularization
10312	TCIRG1	HP:0008479	Hypoplastic vertebral bodies
10312	TCIRG1	HP:0031846	Femur fracture
10312	TCIRG1	HP:0006824	Cranial nerve paralysis
10312	TCIRG1	HP:0000639	Nystagmus
10312	TCIRG1	HP:0000649	Abnormality of visual evoked potentials
10312	TCIRG1	HP:0000648	Optic atrophy
10312	TCIRG1	HP:0000618	Blindness
10312	TCIRG1	HP:0001945	Fever
10312	TCIRG1	HP:0001939	Abnormality of metabolism/homeostasis
10312	TCIRG1	HP:0001909	Leukemia
10312	TCIRG1	HP:0001903	Anemia
10312	TCIRG1	HP:0001915	Aplastic anemia
10312	TCIRG1	HP:0000682	Abnormal dental enamel morphology
10312	TCIRG1	HP:0000684	Delayed eruption of teeth
10312	TCIRG1	HP:0000689	Dental malocclusion
10312	TCIRG1	HP:0000670	Carious teeth
10312	TCIRG1	HP:0004322	Short stature
10312	TCIRG1	HP:0005652	Cortical sclerosis
10312	TCIRG1	HP:0004370	Abnormality of temperature regulation
10312	TCIRG1	HP:0003015	Flared metaphysis
10312	TCIRG1	HP:0004349	Reduced bone mineral density
10312	TCIRG1	HP:0004348	Abnormality of bone mineral density
10312	TCIRG1	HP:0000772	Abnormal rib morphology
10312	TCIRG1	HP:0100022	Abnormality of movement
10312	TCIRG1	HP:0000704	Periodontitis
10312	TCIRG1	HP:0000707	Abnormality of the nervous system
10312	TCIRG1	HP:0000774	Narrow chest
10312	TCIRG1	HP:0005746	Osteosclerosis of the base of the skull
10312	TCIRG1	HP:0004415	Pulmonary artery stenosis
10312	TCIRG1	HP:0004429	Recurrent viral infections
10312	TCIRG1	HP:0000926	Platyspondyly
10312	TCIRG1	HP:0003155	Elevated circulating alkaline phosphatase concentration
10312	TCIRG1	HP:0004493	Craniofacial hyperostosis
10312	TCIRG1	HP:0005789	Generalized osteosclerosis
10312	TCIRG1	HP:0000980	Pallor
10312	TCIRG1	HP:0000978	Bruising susceptibility
10312	TCIRG1	HP:0000938	Osteopenia
10312	TCIRG1	HP:0000944	Abnormal metaphysis morphology
10312	TCIRG1	HP:0008065	Aplasia/Hypoplasia of the skin
10312	TCIRG1	HP:0008066	Abnormal blistering of the skin
10312	TCIRG1	HP:0000256	Macrocephaly
10312	TCIRG1	HP:0002812	Coxa vara
10312	TCIRG1	HP:0000238	Hydrocephalus
10312	TCIRG1	HP:0001581	Recurrent skin infections
10312	TCIRG1	HP:0000230	Gingivitis
10312	TCIRG1	HP:0002863	Myelodysplasia
10312	TCIRG1	HP:0001508	Failure to thrive
10312	TCIRG1	HP:0001510	Growth delay
10312	TCIRG1	HP:0007807	Optic nerve compression
10312	TCIRG1	HP:0012384	Rhinitis
10312	TCIRG1	HP:0000388	Otitis media
10312	TCIRG1	HP:0002901	Hypocalcemia
10312	TCIRG1	HP:0006480	Premature loss of teeth
10312	TCIRG1	HP:0006482	Abnormality of dental morphology
10312	TCIRG1	HP:0006487	Bowing of the long bones
10312	TCIRG1	HP:0000365	Hearing impairment
10312	TCIRG1	HP:0011002	Osteopetrosis
10312	TCIRG1	HP:0011001	Increased bone mineral density
10312	TCIRG1	HP:0012311	Monocytosis
10312	TCIRG1	HP:0000316	Hypertelorism
10312	TCIRG1	HP:0001629	Ventricular septal defect
10312	TCIRG1	HP:0001641	Abnormal pulmonary valve morphology
10312	TCIRG1	HP:0007958	Optic atrophy from cranial nerve compression
10312	TCIRG1	HP:0011107	Recurrent aphthous stomatitis
10312	TCIRG1	HP:0001744	Splenomegaly
10312	TCIRG1	HP:0005425	Recurrent sinopulmonary infections
10312	TCIRG1	HP:0006721	Acute lymphoblastic leukemia
10312	TCIRG1	HP:0005450	Calvarial osteosclerosis
10312	TCIRG1	HP:0000505	Visual impairment
10312	TCIRG1	HP:0000597	Ophthalmoparesis
10312	TCIRG1	HP:0001888	Lymphopenia
10312	TCIRG1	HP:0001880	Eosinophilia
10312	TCIRG1	HP:0001873	Thrombocytopenia
10312	TCIRG1	HP:0001876	Pancytopenia
10312	TCIRG1	HP:0001875	Neutropenia
10319	LAMC3	HP:0001263	Global developmental delay
10319	LAMC3	HP:0000007	Autosomal recessive inheritance
10319	LAMC3	HP:0001302	Pachygyria
10319	LAMC3	HP:0002069	Bilateral tonic-clonic seizure
10319	LAMC3	HP:0002126	Polymicrogyria
10319	LAMC3	HP:0002353	EEG abnormality
10319	LAMC3	HP:0003621	Juvenile onset
10319	LAMC3	HP:0032909	Focal impaired awareness automatism seizure
10319	LAMC3	HP:0000572	Visual loss
10320	IKZF1	HP:0025116	Fetal distress
10320	IKZF1	HP:0003781	Excessive salivation
10320	IKZF1	HP:0100806	Sepsis
10320	IKZF1	HP:0010976	B lymphocytopenia
10320	IKZF1	HP:0003829	Typified by incomplete penetrance
10320	IKZF1	HP:0000083	Renal insufficiency
10320	IKZF1	HP:0000006	Autosomal dominant inheritance
10320	IKZF1	HP:0002718	Recurrent bacterial infections
10320	IKZF1	HP:0002017	Nausea and vomiting
10320	IKZF1	HP:0002027	Abdominal pain
10320	IKZF1	HP:0002014	Diarrhea
10320	IKZF1	HP:0002015	Dysphagia
10320	IKZF1	HP:0002094	Dyspnea
10320	IKZF1	HP:0002091	Restrictive ventilatory defect
10320	IKZF1	HP:0002043	Esophageal stricture
10320	IKZF1	HP:0100518	Dysuria
10320	IKZF1	HP:0002103	Abnormal pleura morphology
10320	IKZF1	HP:0003596	Middle age onset
10320	IKZF1	HP:0002239	Gastrointestinal hemorrhage
10320	IKZF1	HP:0002205	Recurrent respiratory infections
10320	IKZF1	HP:0100792	Acantholysis
10320	IKZF1	HP:0200020	Corneal erosion
10320	IKZF1	HP:0010783	Erythema
10320	IKZF1	HP:0003621	Juvenile onset
10320	IKZF1	HP:0000613	Photophobia
10320	IKZF1	HP:0001945	Fever
10320	IKZF1	HP:0001960	Hypokalemic metabolic alkalosis
10320	IKZF1	HP:0000621	Entropion
10320	IKZF1	HP:0001903	Anemia
10320	IKZF1	HP:0004313	Decreased circulating antibody level
10320	IKZF1	HP:0012735	Cough
10320	IKZF1	HP:0012733	Macule
10320	IKZF1	HP:0011463	Childhood onset
10320	IKZF1	HP:0011462	Young adult onset
10320	IKZF1	HP:0000795	Abnormality of the urethra
10320	IKZF1	HP:0004429	Recurrent viral infections
10320	IKZF1	HP:0008066	Abnormal blistering of the skin
10320	IKZF1	HP:0001561	Polyhydramnios
10320	IKZF1	HP:0030016	Dyspareunia
10320	IKZF1	HP:0002841	Recurrent fungal infections
10320	IKZF1	HP:0012378	Fatigue
10320	IKZF1	HP:0006554	Acute hepatic failure
10320	IKZF1	HP:0002910	Elevated hepatic transaminase
10320	IKZF1	HP:0001645	Sudden cardiac death
10320	IKZF1	HP:0001658	Myocardial infarction
10320	IKZF1	HP:0001637	Abnormal myocardium morphology
10320	IKZF1	HP:0005387	Combined immunodeficiency
10320	IKZF1	HP:0001733	Pancreatitis
10320	IKZF1	HP:0006721	Acute lymphoblastic leukemia
10320	IKZF1	HP:0001824	Weight loss
10320	IKZF1	HP:0000509	Conjunctivitis
10320	IKZF1	HP:0000505	Visual impairment
10320	IKZF1	HP:0001874	Abnormality of neutrophils
10320	IKZF1	HP:0001873	Thrombocytopenia
10320	IKZF1	HP:0001876	Pancytopenia
10324	KLHL41	HP:0001181	Adducted thumb
10324	KLHL41	HP:0002483	Bulbar signs
10324	KLHL41	HP:0003798	Nemaline bodies
10324	KLHL41	HP:0003722	Neck flexor weakness
10324	KLHL41	HP:0001290	Generalized hypotonia
10324	KLHL41	HP:0001270	Motor delay
10324	KLHL41	HP:0001288	Gait disturbance
10324	KLHL41	HP:0001284	Areflexia
10324	KLHL41	HP:0001265	Hyporeflexia
10324	KLHL41	HP:0002515	Waddling gait
10324	KLHL41	HP:0003803	Type 1 muscle fiber predominance
10324	KLHL41	HP:0001371	Flexion contracture
10324	KLHL41	HP:0000054	Micropenis
10324	KLHL41	HP:0000047	Hypospadias
10324	KLHL41	HP:0001349	Facial diplegia
10324	KLHL41	HP:0007514	Edema of the dorsum of hands
10324	KLHL41	HP:0001324	Muscle weakness
10324	KLHL41	HP:0000007	Autosomal recessive inheritance
10324	KLHL41	HP:0002650	Scoliosis
10324	KLHL41	HP:0001319	Neonatal hypotonia
10324	KLHL41	HP:0000175	Cleft palate
10324	KLHL41	HP:0002705	High, narrow palate
10324	KLHL41	HP:0002792	Reduced vital capacity
10324	KLHL41	HP:0002747	Respiratory insufficiency due to muscle weakness
10324	KLHL41	HP:0003327	Axial muscle weakness
10324	KLHL41	HP:0003325	Limb-girdle muscle weakness
10324	KLHL41	HP:0002015	Dysphagia
10324	KLHL41	HP:0003307	Hyperlordosis
10324	KLHL41	HP:0003306	Spinal rigidity
10324	KLHL41	HP:0003324	Generalized muscle weakness
10324	KLHL41	HP:0002089	Pulmonary hypoplasia
10324	KLHL41	HP:0002093	Respiratory insufficiency
10324	KLHL41	HP:0002067	Bradykinesia
10324	KLHL41	HP:0002068	Neuromuscular dysphagia
10324	KLHL41	HP:0002058	Myopathic facies
10324	KLHL41	HP:0008180	Mildly elevated creatine kinase
10324	KLHL41	HP:0003458	EMG: myopathic abnormalities
10324	KLHL41	HP:0003552	Muscle stiffness
10324	KLHL41	HP:0003546	Exercise intolerance
10324	KLHL41	HP:0003557	Increased variability in muscle fiber diameter
10324	KLHL41	HP:0007010	Poor fine motor coordination
10324	KLHL41	HP:0011968	Feeding difficulties
10324	KLHL41	HP:0010628	Facial palsy
10324	KLHL41	HP:0003691	Scapular winging
10324	KLHL41	HP:0003690	Limb muscle weakness
10324	KLHL41	HP:0002375	Hypokinesia
10324	KLHL41	HP:0002355	Difficulty walking
10324	KLHL41	HP:0002312	Clumsiness
10324	KLHL41	HP:0006829	Severe muscular hypotonia
10324	KLHL41	HP:0000602	Ophthalmoplegia
10324	KLHL41	HP:0009055	Generalized limb muscle atrophy
10324	KLHL41	HP:0009058	Increased muscle lipid content
10324	KLHL41	HP:0009025	Increased connective tissue
10324	KLHL41	HP:0009027	Foot dorsiflexor weakness
10324	KLHL41	HP:0001989	Fetal akinesia sequence
10324	KLHL41	HP:0000767	Pectus excavatum
10324	KLHL41	HP:0000765	Abnormal thorax morphology
10324	KLHL41	HP:0000774	Narrow chest
10324	KLHL41	HP:0000775	Abnormality of the diaphragm
10324	KLHL41	HP:0003198	Myopathy
10324	KLHL41	HP:0000883	Thin ribs
10324	KLHL41	HP:0003236	Elevated circulating creatine kinase concentration
10324	KLHL41	HP:0003202	Skeletal muscle atrophy
10324	KLHL41	HP:0005855	Multiple prenatal fractures
10324	KLHL41	HP:0000275	Narrow face
10324	KLHL41	HP:0000276	Long face
10324	KLHL41	HP:0002827	Hip dislocation
10324	KLHL41	HP:0002808	Kyphosis
10324	KLHL41	HP:0002804	Arthrogryposis multiplex congenita
10324	KLHL41	HP:0000239	Large fontanelles
10324	KLHL41	HP:0002878	Respiratory failure
10324	KLHL41	HP:0000218	High palate
10324	KLHL41	HP:0002877	Nocturnal hypoventilation
10324	KLHL41	HP:0001561	Polyhydramnios
10324	KLHL41	HP:0001558	Decreased fetal movement
10324	KLHL41	HP:0002857	Genu valgum
10324	KLHL41	HP:0001533	Slender build
10324	KLHL41	HP:0030200	Fatiguable weakness of proximal limb muscles
10324	KLHL41	HP:0030196	Fatigable weakness of respiratory muscles
10324	KLHL41	HP:0030192	Fatigable weakness of bulbar muscles
10324	KLHL41	HP:0030198	Fatigable weakness of distal limb muscles
10324	KLHL41	HP:0000369	Low-set ears
10324	KLHL41	HP:0000343	Long philtrum
10324	KLHL41	HP:0000347	Micrognathia
10324	KLHL41	HP:0000316	Hypertelorism
10324	KLHL41	HP:0001629	Ventricular septal defect
10324	KLHL41	HP:0001623	Breech presentation
10324	KLHL41	HP:0001622	Premature birth
10324	KLHL41	HP:0002970	Genu varum
10324	KLHL41	HP:0001638	Cardiomyopathy
10324	KLHL41	HP:0000470	Short neck
10324	KLHL41	HP:0000467	Neck muscle weakness
10324	KLHL41	HP:0001761	Pes cavus
10324	KLHL41	HP:0000508	Ptosis
10329	RXYLT1	HP:0007260	Type II lissencephaly
10329	RXYLT1	HP:0007227	Macrogyria
10329	RXYLT1	HP:0001274	Agenesis of corpus callosum
10329	RXYLT1	HP:0001284	Areflexia
10329	RXYLT1	HP:0001250	Seizure
10329	RXYLT1	HP:0001252	Hypotonia
10329	RXYLT1	HP:0001249	Intellectual disability
10329	RXYLT1	HP:0001265	Hyporeflexia
10329	RXYLT1	HP:0001263	Global developmental delay
10329	RXYLT1	HP:0008736	Hypoplasia of penis
10329	RXYLT1	HP:0002536	Abnormal cortical gyration
10329	RXYLT1	HP:0000028	Cryptorchidism
10329	RXYLT1	HP:0001331	Absent septum pellucidum
10329	RXYLT1	HP:0001328	Specific learning disability
10329	RXYLT1	HP:0001324	Muscle weakness
10329	RXYLT1	HP:0001339	Lissencephaly
10329	RXYLT1	HP:0000007	Autosomal recessive inheritance
10329	RXYLT1	HP:0001305	Dandy-Walker malformation
10329	RXYLT1	HP:0001302	Pachygyria
10329	RXYLT1	HP:0001321	Cerebellar hypoplasia
10329	RXYLT1	HP:0000193	Bifid uvula
10329	RXYLT1	HP:0000176	Submucous cleft hard palate
10329	RXYLT1	HP:0000175	Cleft palate
10329	RXYLT1	HP:0000133	Gonadal dysgenesis
10329	RXYLT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
10329	RXYLT1	HP:0002119	Ventriculomegaly
10329	RXYLT1	HP:0002126	Polymicrogyria
10329	RXYLT1	HP:0010508	Metatarsus valgus
10329	RXYLT1	HP:0002269	Abnormality of neuronal migration
10329	RXYLT1	HP:0003577	Congenital onset
10329	RXYLT1	HP:0003560	Muscular dystrophy
10329	RXYLT1	HP:0007033	Cerebellar dysplasia
10329	RXYLT1	HP:0002334	Abnormal cerebellar vermis morphology
10329	RXYLT1	HP:0000648	Optic atrophy
10329	RXYLT1	HP:0000612	Iris coloboma
10329	RXYLT1	HP:0040081	Abnormal circulating creatine kinase concentration
10329	RXYLT1	HP:0003202	Skeletal muscle atrophy
10329	RXYLT1	HP:0045040	Abnormal lactate dehydrogenase level
10329	RXYLT1	HP:0045005	Neural tube defect
10329	RXYLT1	HP:0000256	Macrocephaly
10329	RXYLT1	HP:0007731	Chorioretinal dysplasia
10329	RXYLT1	HP:0000238	Hydrocephalus
10329	RXYLT1	HP:0000252	Microcephaly
10329	RXYLT1	HP:0000358	Posteriorly rotated ears
10329	RXYLT1	HP:0000369	Low-set ears
10329	RXYLT1	HP:0007957	Corneal opacity
10329	RXYLT1	HP:0007973	Retinal dysplasia
10329	RXYLT1	HP:0000482	Microcornea
10329	RXYLT1	HP:0012400	Abnormal circulating aldolase concentration
10329	RXYLT1	HP:0000411	Protruding ear
10329	RXYLT1	HP:0000518	Cataract
10329	RXYLT1	HP:0000528	Anophthalmia
10329	RXYLT1	HP:0000501	Glaucoma
10329	RXYLT1	HP:0000587	Abnormal optic nerve morphology
10329	RXYLT1	HP:0000556	Retinal dystrophy
10329	RXYLT1	HP:0000568	Microphthalmia
10329	RXYLT1	HP:0000541	Retinal detachment
10342	TFG	HP:0002483	Bulbar signs
10342	TFG	HP:0002445	Tetraplegia
10342	TFG	HP:0007289	Limb fasciculations
10342	TFG	HP:0007220	Demyelinating motor neuropathy
10342	TFG	HP:0007210	Lower limb amyotrophy
10342	TFG	HP:0003701	Proximal muscle weakness
10342	TFG	HP:0001288	Gait disturbance
10342	TFG	HP:0001284	Areflexia
10342	TFG	HP:0001258	Spastic paraplegia
10342	TFG	HP:0001257	Spasticity
10342	TFG	HP:0410262	Lower cranial nerve dysfunction
10342	TFG	HP:0007340	Lower limb muscle weakness
10342	TFG	HP:0002540	Inability to walk
10342	TFG	HP:0002505	Loss of ambulation
10342	TFG	HP:0000079	Abnormality of the urinary system
10342	TFG	HP:0001347	Hyperreflexia
10342	TFG	HP:0001324	Muscle weakness
10342	TFG	HP:0000007	Autosomal recessive inheritance
10342	TFG	HP:0001337	Tremor
10342	TFG	HP:0000006	Autosomal dominant inheritance
10342	TFG	HP:0008944	Distal lower limb amyotrophy
10342	TFG	HP:0002015	Dysphagia
10342	TFG	HP:0002094	Dyspnea
10342	TFG	HP:0003394	Muscle spasm
10342	TFG	HP:0002061	Lower limb spasticity
10342	TFG	HP:0003380	Decreased number of peripheral myelinated nerve fibers
10342	TFG	HP:0008180	Mildly elevated creatine kinase
10342	TFG	HP:0003474	Somatic sensory dysfunction
10342	TFG	HP:0003487	Babinski sign
10342	TFG	HP:0003484	Upper limb muscle weakness
10342	TFG	HP:0002171	Gliosis
10342	TFG	HP:0010546	Muscle fibrillation
10342	TFG	HP:0003581	Adult onset
10342	TFG	HP:0003551	Difficulty climbing stairs
10342	TFG	HP:0004887	Respiratory failure requiring assisted ventilation
10342	TFG	HP:0011964	Intermittent painful muscle spasms
10342	TFG	HP:0011951	Aspiration pneumonia
10342	TFG	HP:0002380	Fasciculations
10342	TFG	HP:0002398	Degeneration of anterior horn cells
10342	TFG	HP:0003698	Difficulty standing
10342	TFG	HP:0002378	Hand tremor
10342	TFG	HP:0003677	Slowly progressive
10342	TFG	HP:0010827	Abnormality of the seventh cranial nerve
10342	TFG	HP:0009830	Peripheral neuropathy
10342	TFG	HP:0007141	Sensorimotor neuropathy
10342	TFG	HP:0007126	Proximal amyotrophy
10342	TFG	HP:0007178	Motor polyneuropathy
10342	TFG	HP:0000648	Optic atrophy
10342	TFG	HP:0003077	Hyperlipidemia
10342	TFG	HP:0003074	Hyperglycemia
10342	TFG	HP:0031910	Abnormal cranial nerve physiology
10342	TFG	HP:0031936	Delayed ability to walk
10342	TFG	HP:0012735	Cough
10342	TFG	HP:0000763	Sensory neuropathy
10342	TFG	HP:0011470	Nasogastric tube feeding in infancy
10342	TFG	HP:0011463	Childhood onset
10342	TFG	HP:0009130	Hand muscle atrophy
10342	TFG	HP:0003134	Abnormality of peripheral nerve conduction
10342	TFG	HP:0040078	Axonal degeneration
10342	TFG	HP:0003236	Elevated circulating creatine kinase concentration
10342	TFG	HP:0005109	Abnormality of the Achilles tendon
10342	TFG	HP:0002878	Respiratory failure
10342	TFG	HP:0030007	EMG: positive sharp waves
10342	TFG	HP:0030200	Fatiguable weakness of proximal limb muscles
10342	TFG	HP:0030179	Abnormal peripheral action potential amplitude
10342	TFG	HP:0002936	Distal sensory impairment
10342	TFG	HP:0011014	Abnormal glucose homeostasis
10342	TFG	HP:0012447	Abnormal myelination
10342	TFG	HP:0000572	Visual loss
10345	TRDN	HP:0001197	Abnormality of prenatal development or birth
10345	TRDN	HP:0003701	Proximal muscle weakness
10345	TRDN	HP:0001279	Syncope
10345	TRDN	HP:0001250	Seizure
10345	TRDN	HP:0000007	Autosomal recessive inheritance
10345	TRDN	HP:0000006	Autosomal dominant inheritance
10345	TRDN	HP:0025478	Atrial standstill
10345	TRDN	HP:0031273	Shock
10345	TRDN	HP:0500018	Abnormal cardiac exercise stress test
10345	TRDN	HP:0011704	Sick sinus syndrome
10345	TRDN	HP:0004758	Effort-induced polymorphic ventricular tachycardia
10345	TRDN	HP:0004757	Paroxysmal atrial fibrillation
10345	TRDN	HP:0004756	Ventricular tachycardia
10345	TRDN	HP:0003593	Infantile onset
10345	TRDN	HP:0002321	Vertigo
10345	TRDN	HP:0003621	Juvenile onset
10345	TRDN	HP:0034039	Ventricular couplet
10345	TRDN	HP:0034040	Bidirectional ventricular tachycardia
10345	TRDN	HP:0004308	Ventricular arrhythmia
10345	TRDN	HP:0011463	Childhood onset
10345	TRDN	HP:0011462	Young adult onset
10345	TRDN	HP:0005135	Abnormal T-wave
10345	TRDN	HP:0005184	Prolonged QTc interval
10345	TRDN	HP:0002900	Hypokalemia
10345	TRDN	HP:0000365	Hearing impairment
10345	TRDN	HP:0001695	Cardiac arrest
10345	TRDN	HP:0001688	Sinus bradycardia
10345	TRDN	HP:0012332	Abnormal autonomic nervous system physiology
10345	TRDN	HP:0001664	Torsade de pointes
10345	TRDN	HP:0001678	Atrioventricular block
10345	TRDN	HP:0001645	Sudden cardiac death
10345	TRDN	HP:0001644	Dilated cardiomyopathy
10345	TRDN	HP:0001657	Prolonged QT interval
10345	TRDN	HP:0006682	Premature ventricular contraction
10345	TRDN	HP:0006673	Reduced systolic function
10345	TRDN	HP:0031677	Polymorphic ventricular tachycardia
10347	ABCA7	HP:0002463	Language impairment
10347	ABCA7	HP:0003791	Deposits immunoreactive to beta-amyloid protein
10347	ABCA7	HP:0410170	Hippocampal atrophy
10347	ABCA7	HP:0001276	Hypertonia
10347	ABCA7	HP:0001289	Confusion
10347	ABCA7	HP:0001250	Seizure
10347	ABCA7	HP:0001251	Ataxia
10347	ABCA7	HP:0001249	Intellectual disability
10347	ABCA7	HP:0002511	Alzheimer disease
10347	ABCA7	HP:0000006	Autosomal dominant inheritance
10347	ABCA7	HP:0001336	Myoclonus
10347	ABCA7	HP:0001300	Parkinsonism
10347	ABCA7	HP:0002071	Abnormality of extrapyramidal motor function
10347	ABCA7	HP:0002120	Cerebral cortical atrophy
10347	ABCA7	HP:0002186	Apraxia
10347	ABCA7	HP:0002185	Neurofibrillary tangles
10347	ABCA7	HP:0010526	Dysgraphia
10347	ABCA7	HP:0010525	Finger agnosia
10347	ABCA7	HP:0003584	Late onset
10347	ABCA7	HP:0002381	Aphasia
10347	ABCA7	HP:0002354	Memory impairment
10347	ABCA7	HP:0000657	Oculomotor apraxia
10347	ABCA7	HP:0000738	Hallucinations
10347	ABCA7	HP:0000734	Disinhibition
10347	ABCA7	HP:0000716	Depression
10347	ABCA7	HP:0000713	Agitation
10347	ABCA7	HP:0000726	Dementia
10347	ABCA7	HP:0011446	Abnormality of higher mental function
10347	ABCA7	HP:0012759	Neurodevelopmental abnormality
10347	ABCA7	HP:0100256	Senile plaques
10347	ABCA7	HP:0030219	Semantic dementia
10347	ABCA7	HP:0012433	Abnormal social behavior
10347	ABCA7	HP:0000504	Abnormality of vision
10352	WARS2	HP:0002487	Hyperkinetic movements
10352	WARS2	HP:0002474	Expressive language delay
10352	WARS2	HP:0002451	Limb dystonia
10352	WARS2	HP:0025162	Severe temper tantrums
10352	WARS2	HP:0002421	Poor head control
10352	WARS2	HP:0003700	Generalized amyotrophy
10352	WARS2	HP:0001276	Hypertonia
10352	WARS2	HP:0001272	Cerebellar atrophy
10352	WARS2	HP:0001250	Seizure
10352	WARS2	HP:0001251	Ataxia
10352	WARS2	HP:0001249	Intellectual disability
10352	WARS2	HP:0001260	Dysarthria
10352	WARS2	HP:0001263	Global developmental delay
10352	WARS2	HP:0002518	Abnormal periventricular white matter morphology
10352	WARS2	HP:0002510	Spastic tetraplegia
10352	WARS2	HP:0002509	Limb hypertonia
10352	WARS2	HP:0002506	Diffuse cerebral atrophy
10352	WARS2	HP:0001347	Hyperreflexia
10352	WARS2	HP:0031165	Multifocal seizures
10352	WARS2	HP:0001332	Dystonia
10352	WARS2	HP:0001324	Muscle weakness
10352	WARS2	HP:0001344	Absent speech
10352	WARS2	HP:0000007	Autosomal recessive inheritance
10352	WARS2	HP:0001337	Tremor
10352	WARS2	HP:0001310	Dysmetria
10352	WARS2	HP:0001320	Cerebellar vermis hypoplasia
10352	WARS2	HP:0001300	Parkinsonism
10352	WARS2	HP:0008947	Infantile muscular hypotonia
10352	WARS2	HP:0008936	Axial hypotonia
10352	WARS2	HP:0025403	Stooped posture
10352	WARS2	HP:0002015	Dysphagia
10352	WARS2	HP:0002072	Chorea
10352	WARS2	HP:0002059	Cerebral atrophy
10352	WARS2	HP:0002151	Increased serum lactate
10352	WARS2	HP:0002119	Ventriculomegaly
10352	WARS2	HP:0002107	Pneumothorax
10352	WARS2	HP:0002188	Delayed CNS myelination
10352	WARS2	HP:0002187	Intellectual disability, profound
10352	WARS2	HP:0002198	Dilated fourth ventricle
10352	WARS2	HP:0002167	Abnormality of speech or vocalization
10352	WARS2	HP:0003593	Infantile onset
10352	WARS2	HP:0002283	Global brain atrophy
10352	WARS2	HP:0011968	Feeding difficulties
10352	WARS2	HP:0003698	Difficulty standing
10352	WARS2	HP:0002365	Hypoplasia of the brainstem
10352	WARS2	HP:0002376	Developmental regression
10352	WARS2	HP:0002345	Action tremor
10352	WARS2	HP:0002342	Intellectual disability, moderate
10352	WARS2	HP:0002355	Difficulty walking
10352	WARS2	HP:0002352	Leukoencephalopathy
10352	WARS2	HP:0100660	Dyskinesia
10352	WARS2	HP:0003623	Neonatal onset
10352	WARS2	HP:0002305	Athetosis
10352	WARS2	HP:0003621	Juvenile onset
10352	WARS2	HP:0000639	Nystagmus
10352	WARS2	HP:0000646	Amblyopia
10352	WARS2	HP:0000648	Optic atrophy
10352	WARS2	HP:0001943	Hypoglycemia
10352	WARS2	HP:0009062	Infantile axial hypotonia
10352	WARS2	HP:0001999	Abnormal facial shape
10352	WARS2	HP:0001998	Neonatal hypoglycemia
10352	WARS2	HP:0005656	Positional foot deformity
10352	WARS2	HP:0006956	Lateral ventricle dilatation
10352	WARS2	HP:0100022	Abnormality of movement
10352	WARS2	HP:0000739	Anxiety
10352	WARS2	HP:0000735	Impaired social interactions
10352	WARS2	HP:0012704	Widened subarachnoid space
10352	WARS2	HP:0000716	Depression
10352	WARS2	HP:0000718	Aggressive behavior
10352	WARS2	HP:0000709	Psychosis
10352	WARS2	HP:0011463	Childhood onset
10352	WARS2	HP:0003128	Lactic acidosis
10352	WARS2	HP:0003202	Skeletal muscle atrophy
10352	WARS2	HP:0007772	Impaired smooth pursuit
10352	WARS2	HP:0000219	Thin upper lip vermilion
10352	WARS2	HP:0000218	High palate
10352	WARS2	HP:0001511	Intrauterine growth retardation
10352	WARS2	HP:0001510	Growth delay
10352	WARS2	HP:0012379	Abnormal circulating enzyme concentration or activity
10352	WARS2	HP:0000369	Low-set ears
10352	WARS2	HP:0000343	Long philtrum
10352	WARS2	HP:0000316	Hypertelorism
10352	WARS2	HP:0001622	Premature birth
10352	WARS2	HP:0001638	Cardiomyopathy
10352	WARS2	HP:0000486	Strabismus
10352	WARS2	HP:0012448	Delayed myelination
10352	WARS2	HP:0012430	Cerebral white matter hypoplasia
10352	WARS2	HP:0000431	Wide nasal bridge
10352	WARS2	HP:0000510	Rod-cone dystrophy
10352	WARS2	HP:0000577	Exotropia
10352	WARS2	HP:0001873	Thrombocytopenia
10367	MICU1	HP:0010910	Hypervalinemia
10367	MICU1	HP:0003701	Proximal muscle weakness
10367	MICU1	HP:0001270	Motor delay
10367	MICU1	HP:0001250	Seizure
10367	MICU1	HP:0001252	Hypotonia
10367	MICU1	HP:0001251	Ataxia
10367	MICU1	HP:0001266	Choreoathetosis
10367	MICU1	HP:0001263	Global developmental delay
10367	MICU1	HP:0001388	Joint laxity
10367	MICU1	HP:0001332	Dystonia
10367	MICU1	HP:0001328	Specific learning disability
10367	MICU1	HP:0000007	Autosomal recessive inheritance
10367	MICU1	HP:0001337	Tremor
10367	MICU1	HP:0008981	Calf muscle hypertrophy
10367	MICU1	HP:0003394	Muscle spasm
10367	MICU1	HP:0003391	Gowers sign
10367	MICU1	HP:0002072	Chorea
10367	MICU1	HP:0002071	Abnormality of extrapyramidal motor function
10367	MICU1	HP:0003388	Easy fatigability
10367	MICU1	HP:0008180	Mildly elevated creatine kinase
10367	MICU1	HP:0003477	Peripheral axonal neuropathy
10367	MICU1	HP:0002133	Status epilepticus
10367	MICU1	HP:0002169	Clonus
10367	MICU1	HP:0002161	Hyperlysinemia
10367	MICU1	HP:0002240	Hepatomegaly
10367	MICU1	HP:0003557	Increased variability in muscle fiber diameter
10367	MICU1	HP:0007033	Cerebellar dysplasia
10367	MICU1	HP:0001027	Soft, doughy skin
10367	MICU1	HP:0002359	Frequent falls
10367	MICU1	HP:0002355	Difficulty walking
10367	MICU1	HP:0003687	Centrally nucleated skeletal muscle fibers
10367	MICU1	HP:0002322	Resting tremor
10367	MICU1	HP:0010804	Tented upper lip vermilion
10367	MICU1	HP:0007153	Progressive extrapyramidal movement disorder
10367	MICU1	HP:0007158	Progressive extrapyramidal muscular rigidity
10367	MICU1	HP:0002312	Clumsiness
10367	MICU1	HP:0002310	Orofacial dyskinesia
10367	MICU1	HP:0034051	Hypoplastic anterior limbs of the internal capsule
10367	MICU1	HP:0000646	Amblyopia
10367	MICU1	HP:0000648	Optic atrophy
10367	MICU1	HP:0001974	Leukocytosis
10367	MICU1	HP:0000602	Ophthalmoplegia
10367	MICU1	HP:0009046	Difficulty running
10367	MICU1	HP:0012650	Perisylvian polymicrogyria
10367	MICU1	HP:0004305	Involuntary movements
10367	MICU1	HP:0012751	Abnormal basal ganglia MRI signal intensity
10367	MICU1	HP:0000752	Hyperactivity
10367	MICU1	HP:0000750	Delayed speech and language development
10367	MICU1	HP:0000831	Insulin-resistant diabetes mellitus
10367	MICU1	HP:0003236	Elevated circulating creatine kinase concentration
10367	MICU1	HP:0040197	Encephalomalacia
10367	MICU1	HP:0000286	Epicanthus
10367	MICU1	HP:0000275	Narrow face
10367	MICU1	HP:0000252	Microcephaly
10367	MICU1	HP:0001510	Growth delay
10367	MICU1	HP:0002910	Elevated hepatic transaminase
10367	MICU1	HP:0002922	Increased CSF protein concentration
10367	MICU1	HP:0000365	Hearing impairment
10367	MICU1	HP:0000316	Hypertelorism
10367	MICU1	HP:0001629	Ventricular septal defect
10367	MICU1	HP:0001638	Cardiomyopathy
10367	MICU1	HP:0030230	Central core regions in muscle fibers
10367	MICU1	HP:0030235	Extremely elevated creatine kinase
10367	MICU1	HP:0000463	Anteverted nares
10367	MICU1	HP:0000470	Short neck
10367	MICU1	HP:0001744	Splenomegaly
10367	MICU1	HP:0000508	Ptosis
10369	CACNG2	HP:0001250	Seizure
10369	CACNG2	HP:0410263	Brain imaging abnormality
10369	CACNG2	HP:0000006	Autosomal dominant inheritance
10369	CACNG2	HP:0002342	Intellectual disability, moderate
10369	CACNG2	HP:0011463	Childhood onset
10370	CITED2	HP:0001156	Brachydactyly
10370	CITED2	HP:0009891	Underdeveloped supraorbital ridges
10370	CITED2	HP:0001297	Stroke
10370	CITED2	HP:0001279	Syncope
10370	CITED2	HP:0000028	Cryptorchidism
10370	CITED2	HP:0000006	Autosomal dominant inheritance
10370	CITED2	HP:0002718	Recurrent bacterial infections
10370	CITED2	HP:0005957	Breathing dysregulation
10370	CITED2	HP:0002094	Dyspnea
10370	CITED2	HP:0002092	Pulmonary arterial hypertension
10370	CITED2	HP:0002090	Pneumonia
10370	CITED2	HP:0011716	Junctional ectopic tachycardia
10370	CITED2	HP:0011712	Right bundle branch block
10370	CITED2	HP:0011710	Bundle branch block
10370	CITED2	HP:0011705	First degree atrioventricular block
10370	CITED2	HP:0011700	Automatic atrial tachycardia
10370	CITED2	HP:0004755	Supraventricular tachycardia
10370	CITED2	HP:0004749	Atrial flutter
10370	CITED2	HP:0003577	Congenital onset
10370	CITED2	HP:0003546	Exercise intolerance
10370	CITED2	HP:0002326	Transient ischemic attack
10370	CITED2	HP:0010772	Anomalous pulmonary venous return
10370	CITED2	HP:0010741	Pedal edema
10370	CITED2	HP:0004209	Clinodactyly of the 5th finger
10370	CITED2	HP:0001962	Palpitations
10370	CITED2	HP:0001907	Thromboembolism
10370	CITED2	HP:0012764	Orthopnea
10370	CITED2	HP:0004467	Preauricular pit
10370	CITED2	HP:0030718	Right atrial enlargement
10370	CITED2	HP:0000961	Cyanosis
10370	CITED2	HP:0011675	Arrhythmia
10370	CITED2	HP:0011682	Perimembranous ventricular septal defect
10370	CITED2	HP:0012250	ST segment depression
10370	CITED2	HP:0000268	Dolichocephaly
10370	CITED2	HP:0005133	Right ventricular dilatation
10370	CITED2	HP:0005115	Supraventricular arrhythmia
10370	CITED2	HP:0005110	Atrial fibrillation
10370	CITED2	HP:0005105	Abnormal nasal morphology
10370	CITED2	HP:0002875	Exertional dyspnea
10370	CITED2	HP:0000233	Thin vermilion border
10370	CITED2	HP:0001511	Intrauterine growth retardation
10370	CITED2	HP:0012378	Fatigue
10370	CITED2	HP:0012382	Left-to-right shunt
10370	CITED2	HP:0006536	Airway obstruction
10370	CITED2	HP:0005180	Tricuspid regurgitation
10370	CITED2	HP:0005162	Abnormal left ventricular function
10370	CITED2	HP:0001692	Atrial arrhythmia
10370	CITED2	HP:0000337	Broad forehead
10370	CITED2	HP:0001653	Mitral regurgitation
10370	CITED2	HP:0001636	Tetralogy of Fallot
10370	CITED2	HP:0001635	Congestive heart failure
10370	CITED2	HP:0001631	Atrial septal defect
10370	CITED2	HP:0001633	Abnormal mitral valve morphology
10370	CITED2	HP:0006699	Premature atrial contractions
10370	CITED2	HP:0005317	Increased pulmonary vascular resistance
10370	CITED2	HP:0001708	Right ventricular failure
10370	CITED2	HP:0031546	Cardiac conduction abnormality
10370	CITED2	HP:0000520	Proptosis
10370	CITED2	HP:0031663	Paradoxical splitting of the second heart sound
10370	CITED2	HP:0031664	Systolic heart murmur
10371	SEMA3A	HP:0001288	Gait disturbance
10371	SEMA3A	HP:0001279	Syncope
10371	SEMA3A	HP:0001250	Seizure
10371	SEMA3A	HP:0001252	Hypotonia
10371	SEMA3A	HP:0001251	Ataxia
10371	SEMA3A	HP:0001260	Dysarthria
10371	SEMA3A	HP:0008734	Decreased testicular size
10371	SEMA3A	HP:0008736	Hypoplasia of penis
10371	SEMA3A	HP:0000044	Hypogonadotropic hypogonadism
10371	SEMA3A	HP:0000054	Micropenis
10371	SEMA3A	HP:0000028	Cryptorchidism
10371	SEMA3A	HP:0000027	Azoospermia
10371	SEMA3A	HP:0001324	Muscle weakness
10371	SEMA3A	HP:0000008	Abnormal morphology of female internal genitalia
10371	SEMA3A	HP:0001335	Bimanual synkinesia
10371	SEMA3A	HP:0001337	Tremor
10371	SEMA3A	HP:0000006	Autosomal dominant inheritance
10371	SEMA3A	HP:0002652	Skeletal dysplasia
10371	SEMA3A	HP:0032466	Aplasia of the olfactory bulb
10371	SEMA3A	HP:0000175	Cleft palate
10371	SEMA3A	HP:0000144	Decreased fertility
10371	SEMA3A	HP:0000135	Hypogonadism
10371	SEMA3A	HP:0002757	Recurrent fractures
10371	SEMA3A	HP:0000104	Renal agenesis
10371	SEMA3A	HP:0002750	Delayed skeletal maturation
10371	SEMA3A	HP:0040326	Hypoplasia of the olfactory bulb
10371	SEMA3A	HP:0011715	Trifascicular block
10371	SEMA3A	HP:0011712	Right bundle branch block
10371	SEMA3A	HP:0011704	Sick sinus syndrome
10371	SEMA3A	HP:0011705	First degree atrioventricular block
10371	SEMA3A	HP:0004755	Supraventricular tachycardia
10371	SEMA3A	HP:0004751	Paroxysmal ventricular tachycardia
10371	SEMA3A	HP:0010550	Paraplegia
10371	SEMA3A	HP:0008214	Decreased serum estradiol
10371	SEMA3A	HP:0009804	Tooth agenesis
10371	SEMA3A	HP:0100639	Erectile dysfunction
10371	SEMA3A	HP:0000639	Nystagmus
10371	SEMA3A	HP:0004308	Ventricular arrhythmia
10371	SEMA3A	HP:0030680	Abnormality of cardiovascular system morphology
10371	SEMA3A	HP:0004349	Reduced bone mineral density
10371	SEMA3A	HP:0000771	Gynecomastia
10371	SEMA3A	HP:0000786	Primary amenorrhea
10371	SEMA3A	HP:0004409	Hyposmia
10371	SEMA3A	HP:0003187	Breast hypoplasia
10371	SEMA3A	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
10371	SEMA3A	HP:0000830	Anterior hypopituitarism
10371	SEMA3A	HP:0000823	Delayed puberty
10371	SEMA3A	HP:0040171	Decreased serum testosterone concentration
10371	SEMA3A	HP:0008064	Ichthyosis
10371	SEMA3A	HP:0012251	ST segment elevation
10371	SEMA3A	HP:0030016	Dyspareunia
10371	SEMA3A	HP:0001513	Obesity
10371	SEMA3A	HP:0001608	Abnormality of the voice
10371	SEMA3A	HP:0001695	Cardiac arrest
10371	SEMA3A	HP:0001649	Tachycardia
10371	SEMA3A	HP:0001663	Ventricular fibrillation
10371	SEMA3A	HP:0000407	Sensorineural hearing impairment
10371	SEMA3A	HP:0000458	Anosmia
10371	SEMA3A	HP:0001763	Pes planus
10371	SEMA3A	HP:0001761	Pes cavus
10371	SEMA3A	HP:0025708	Early young adult onset
10371	SEMA3A	HP:0000508	Ptosis
10371	SEMA3A	HP:0000505	Visual impairment
10371	SEMA3A	HP:0030344	Decreased circulating luteinizing hormone level
10371	SEMA3A	HP:0030341	Decreased circulating follicle stimulating hormone concentration
10371	SEMA3A	HP:0000551	Color vision defect
10379	IRF9	HP:0000007	Autosomal recessive inheritance
10379	IRF9	HP:0031123	Recurrent gastroenteritis
10379	IRF9	HP:0002110	Bronchiectasis
10379	IRF9	HP:0004429	Recurrent viral infections
10379	IRF9	HP:0010280	Stomatitis
10379	IRF9	HP:0000230	Gingivitis
10381	TUBB3	HP:0002497	Spastic ataxia
10381	TUBB3	HP:0002465	Poor speech
10381	TUBB3	HP:0025102	Dysgenesis of the basal ganglia
10381	TUBB3	HP:0025101	Dysgenesis of the hippocampus
10381	TUBB3	HP:0002474	Expressive language delay
10381	TUBB3	HP:0008619	Bilateral sensorineural hearing impairment
10381	TUBB3	HP:0007260	Type II lissencephaly
10381	TUBB3	HP:0020214	Startle-induced seizure
10381	TUBB3	HP:0010862	Delayed fine motor development
10381	TUBB3	HP:0009879	Simplified gyral pattern
10381	TUBB3	HP:0001274	Agenesis of corpus callosum
10381	TUBB3	HP:0001273	Abnormal corpus callosum morphology
10381	TUBB3	HP:0001250	Seizure
10381	TUBB3	HP:0001252	Hypotonia
10381	TUBB3	HP:0001251	Ataxia
10381	TUBB3	HP:0001249	Intellectual disability
10381	TUBB3	HP:0001264	Spastic diplegia
10381	TUBB3	HP:0001260	Dysarthria
10381	TUBB3	HP:0001263	Global developmental delay
10381	TUBB3	HP:0001257	Spasticity
10381	TUBB3	HP:0001239	Wrist flexion contracture
10381	TUBB3	HP:0032398	Dysgyria
10381	TUBB3	HP:0007359	Focal-onset seizure
10381	TUBB3	HP:0002540	Inability to walk
10381	TUBB3	HP:0002539	Cortical dysplasia
10381	TUBB3	HP:0002510	Spastic tetraplegia
10381	TUBB3	HP:0025336	Delayed ability to sit
10381	TUBB3	HP:0001388	Joint laxity
10381	TUBB3	HP:0001357	Plagiocephaly
10381	TUBB3	HP:0008897	Postnatal growth retardation
10381	TUBB3	HP:0008872	Feeding difficulties in infancy
10381	TUBB3	HP:0001332	Dystonia
10381	TUBB3	HP:0033725	Thin corpus callosum
10381	TUBB3	HP:0001328	Specific learning disability
10381	TUBB3	HP:0001339	Lissencephaly
10381	TUBB3	HP:0001338	Partial agenesis of the corpus callosum
10381	TUBB3	HP:0000006	Autosomal dominant inheritance
10381	TUBB3	HP:0001302	Pachygyria
10381	TUBB3	HP:0001320	Cerebellar vermis hypoplasia
10381	TUBB3	HP:0001321	Cerebellar hypoplasia
10381	TUBB3	HP:0001491	Congenital fibrosis of extraocular muscles
10381	TUBB3	HP:0001488	Bilateral ptosis
10381	TUBB3	HP:0001477	Compensatory chin elevation
10381	TUBB3	HP:0008936	Axial hypotonia
10381	TUBB3	HP:0012110	Hypoplasia of the pons
10381	TUBB3	HP:0002751	Kyphoscoliosis
10381	TUBB3	HP:0040327	Abnormal morphology of the olfactory bulb
10381	TUBB3	HP:0040326	Hypoplasia of the olfactory bulb
10381	TUBB3	HP:0030903	Grasp reflex
10381	TUBB3	HP:0002079	Hypoplasia of the corpus callosum
10381	TUBB3	HP:0009473	Joint contracture of the hand
10381	TUBB3	HP:0003477	Peripheral axonal neuropathy
10381	TUBB3	HP:0002121	Generalized non-motor (absence) seizure
10381	TUBB3	HP:0002119	Ventriculomegaly
10381	TUBB3	HP:0002134	Abnormal basal ganglia morphology
10381	TUBB3	HP:0002126	Polymicrogyria
10381	TUBB3	HP:0002194	Delayed gross motor development
10381	TUBB3	HP:0100490	Camptodactyly of finger
10381	TUBB3	HP:0003577	Congenital onset
10381	TUBB3	HP:0100785	Insomnia
10381	TUBB3	HP:0007048	Large basal ganglia
10381	TUBB3	HP:0010663	Abnormality of thalamus morphology
10381	TUBB3	HP:0007018	Attention deficit hyperactivity disorder
10381	TUBB3	HP:0010628	Facial palsy
10381	TUBB3	HP:0002365	Hypoplasia of the brainstem
10381	TUBB3	HP:0002363	Abnormal brainstem morphology
10381	TUBB3	HP:0002343	Normal pressure hydrocephalus
10381	TUBB3	HP:0002334	Abnormal cerebellar vermis morphology
10381	TUBB3	HP:0200055	Small hand
10381	TUBB3	HP:0030534	Abnormal best corrected visual acuity test
10381	TUBB3	HP:0006821	Frontal polymicrogyria
10381	TUBB3	HP:0031882	Agyria
10381	TUBB3	HP:0000639	Nystagmus
10381	TUBB3	HP:0000646	Amblyopia
10381	TUBB3	HP:0000609	Optic nerve hypoplasia
10381	TUBB3	HP:0009062	Infantile axial hypotonia
10381	TUBB3	HP:0012697	Small basal ganglia
10381	TUBB3	HP:0011344	Severe global developmental delay
10381	TUBB3	HP:0000657	Oculomotor apraxia
10381	TUBB3	HP:0006956	Lateral ventricle dilatation
10381	TUBB3	HP:0034180	Fusion of the caudate and putamen
10381	TUBB3	HP:0000733	Abnormal repetitive mannerisms
10381	TUBB3	HP:0000736	Short attention span
10381	TUBB3	HP:0000735	Impaired social interactions
10381	TUBB3	HP:0000750	Delayed speech and language development
10381	TUBB3	HP:0000712	Emotional lability
10381	TUBB3	HP:0011451	Primary microcephaly
10381	TUBB3	HP:0000286	Epicanthus
10381	TUBB3	HP:0000256	Macrocephaly
10381	TUBB3	HP:0012242	Superior rectus atrophy
10381	TUBB3	HP:0012241	Levator palpebrae superioris atrophy
10381	TUBB3	HP:0000252	Microcephaly
10381	TUBB3	HP:0000218	High palate
10381	TUBB3	HP:0002857	Genu valgum
10381	TUBB3	HP:0007831	Nonprogressive restrictive external ophthalmoplegia
10381	TUBB3	HP:0005216	Impaired mastication
10381	TUBB3	HP:0002943	Thoracic scoliosis
10381	TUBB3	HP:0000369	Low-set ears
10381	TUBB3	HP:0012332	Abnormal autonomic nervous system physiology
10381	TUBB3	HP:0000347	Micrognathia
10381	TUBB3	HP:0002967	Cubitus valgus
10381	TUBB3	HP:0030303	Hypoplastic anterior commissure
10381	TUBB3	HP:0030302	Agenesis of the anterior commissure
10381	TUBB3	HP:0000407	Sensorineural hearing impairment
10381	TUBB3	HP:0000486	Strabismus
10381	TUBB3	HP:0012469	Infantile spasms
10381	TUBB3	HP:0000494	Downslanted palpebral fissures
10381	TUBB3	HP:0000496	Abnormality of eye movement
10381	TUBB3	HP:0000473	Torticollis
10381	TUBB3	HP:0012434	Delayed social development
10381	TUBB3	HP:0001773	Short foot
10381	TUBB3	HP:0005469	Flat occiput
10381	TUBB3	HP:0012502	Abnormality of the internal capsule
10381	TUBB3	HP:0001840	Metatarsus adductus
10381	TUBB3	HP:0000508	Ptosis
10381	TUBB3	HP:0000577	Exotropia
10381	TUBB3	HP:0012547	Abnormal involuntary eye movements
10381	TUBB3	HP:0000572	Visual loss
10381	TUBB3	HP:0000570	Abnormal saccadic eye movements
10381	TUBB3	HP:0000565	Esotropia
10382	TUBB4A	HP:0002465	Poor speech
10382	TUBB4A	HP:0003782	Eunuchoid habitus
10382	TUBB4A	HP:0002451	Limb dystonia
10382	TUBB4A	HP:0007325	Generalized dystonia
10382	TUBB4A	HP:0009938	Sunken cheeks
10382	TUBB4A	HP:0003745	Sporadic
10382	TUBB4A	HP:0002415	Leukodystrophy
10382	TUBB4A	HP:0001272	Cerebellar atrophy
10382	TUBB4A	HP:0001270	Motor delay
10382	TUBB4A	HP:0001288	Gait disturbance
10382	TUBB4A	HP:0001250	Seizure
10382	TUBB4A	HP:0001252	Hypotonia
10382	TUBB4A	HP:0001251	Ataxia
10382	TUBB4A	HP:0001249	Intellectual disability
10382	TUBB4A	HP:0001266	Choreoathetosis
10382	TUBB4A	HP:0001260	Dysarthria
10382	TUBB4A	HP:0001257	Spasticity
10382	TUBB4A	HP:0007351	Upper limb postural tremor
10382	TUBB4A	HP:0012049	Laryngeal dystonia
10382	TUBB4A	HP:0001332	Dystonia
10382	TUBB4A	HP:0001328	Specific learning disability
10382	TUBB4A	HP:0001337	Tremor
10382	TUBB4A	HP:0000006	Autosomal dominant inheritance
10382	TUBB4A	HP:0001304	Torsion dystonia
10382	TUBB4A	HP:0000182	Movement abnormality of the tongue
10382	TUBB4A	HP:0000194	Open mouth
10382	TUBB4A	HP:0008936	Axial hypotonia
10382	TUBB4A	HP:0002751	Kyphoscoliosis
10382	TUBB4A	HP:0002015	Dysphagia
10382	TUBB4A	HP:0002098	Respiratory distress
10382	TUBB4A	HP:0002066	Gait ataxia
10382	TUBB4A	HP:0002063	Rigidity
10382	TUBB4A	HP:0002075	Dysdiadochokinesis
10382	TUBB4A	HP:0003593	Infantile onset
10382	TUBB4A	HP:0032005	Hemidystonia
10382	TUBB4A	HP:0002376	Developmental regression
10382	TUBB4A	HP:0003676	Progressive
10382	TUBB4A	HP:0003621	Juvenile onset
10382	TUBB4A	HP:0006808	Cerebral hypomyelination
10382	TUBB4A	HP:0000639	Nystagmus
10382	TUBB4A	HP:0000648	Optic atrophy
10382	TUBB4A	HP:0000643	Blepharospasm
10382	TUBB4A	HP:0000657	Oculomotor apraxia
10382	TUBB4A	HP:0004322	Short stature
10382	TUBB4A	HP:0004305	Involuntary movements
10382	TUBB4A	HP:0000750	Delayed speech and language development
10382	TUBB4A	HP:0000726	Dementia
10382	TUBB4A	HP:0011463	Childhood onset
10382	TUBB4A	HP:0011462	Young adult onset
10382	TUBB4A	HP:0000275	Narrow face
10382	TUBB4A	HP:0000252	Microcephaly
10382	TUBB4A	HP:0001533	Slender build
10382	TUBB4A	HP:0001618	Dysphonia
10382	TUBB4A	HP:0000473	Torticollis
10382	TUBB4A	HP:0000505	Visual impairment
10382	TUBB4A	HP:0000571	Hypometric saccades
10383	TUBB4B	HP:0001141	Severely reduced visual acuity
10383	TUBB4B	HP:0001250	Seizure
10383	TUBB4B	HP:0001252	Hypotonia
10383	TUBB4B	HP:0001249	Intellectual disability
10383	TUBB4B	HP:0001263	Global developmental delay
10383	TUBB4B	HP:0000006	Autosomal dominant inheritance
10383	TUBB4B	HP:0007663	Reduced visual acuity
10383	TUBB4B	HP:0500087	Peripapillary atrophy
10383	TUBB4B	HP:0002084	Encephalocele
10383	TUBB4B	HP:0002269	Abnormality of neuronal migration
10383	TUBB4B	HP:0003577	Congenital onset
10383	TUBB4B	HP:0008499	High hypermetropia
10383	TUBB4B	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
10383	TUBB4B	HP:0000639	Nystagmus
10383	TUBB4B	HP:0000613	Photophobia
10383	TUBB4B	HP:0004374	Hemiplegia/hemiparesis
10383	TUBB4B	HP:0012795	Abnormal optic disc morphology
10383	TUBB4B	HP:0011463	Childhood onset
10383	TUBB4B	HP:0007703	Abnormality of retinal pigmentation
10383	TUBB4B	HP:0007814	Retinal pigment epithelial mottling
10383	TUBB4B	HP:0000365	Hearing impairment
10383	TUBB4B	HP:0000407	Sensorineural hearing impairment
10383	TUBB4B	HP:0000518	Cataract
10383	TUBB4B	HP:0000512	Abnormal electroretinogram
10383	TUBB4B	HP:0000563	Keratoconus
10383	TUBB4B	HP:0000546	Retinal degeneration
10388	SYCP2	HP:0000007	Autosomal recessive inheritance
10388	SYCP2	HP:0030974	Cryptozoospermia
10388	SYCP2	HP:0011462	Young adult onset
10388	SYCP2	HP:0000798	Oligospermia
10388	SYCP2	HP:0003251	Male infertility
10395	DLC1	HP:0000006	Autosomal dominant inheritance
10395	DLC1	HP:0001428	Somatic mutation
10395	DLC1	HP:0005584	Renal cell carcinoma
10395	DLC1	HP:0002891	Uterine leiomyosarcoma
10395	DLC1	HP:0006753	Neoplasm of the stomach
10395	DLC1	HP:0006740	Transitional cell carcinoma of the bladder
10395	DLC1	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
10397	NDRG1	HP:0001171	Split hand
10397	NDRG1	HP:0001155	Abnormality of the hand
10397	NDRG1	HP:0002460	Distal muscle weakness
10397	NDRG1	HP:0007210	Lower limb amyotrophy
10397	NDRG1	HP:0003701	Proximal muscle weakness
10397	NDRG1	HP:0001270	Motor delay
10397	NDRG1	HP:0001288	Gait disturbance
10397	NDRG1	HP:0001284	Areflexia
10397	NDRG1	HP:0001265	Hyporeflexia
10397	NDRG1	HP:0002540	Inability to walk
10397	NDRG1	HP:0000007	Autosomal recessive inheritance
10397	NDRG1	HP:0008959	Distal upper limb muscle weakness
10397	NDRG1	HP:0002751	Kyphoscoliosis
10397	NDRG1	HP:0004696	Talipes cavus equinovarus
10397	NDRG1	HP:0003383	Onion bulb formation
10397	NDRG1	HP:0003474	Somatic sensory dysfunction
10397	NDRG1	HP:0003481	Segmental peripheral demyelination/remyelination
10397	NDRG1	HP:0003447	Axonal loss
10397	NDRG1	HP:0003431	Decreased motor nerve conduction velocity
10397	NDRG1	HP:0002174	Postural tremor
10397	NDRG1	HP:0007078	Decreased amplitude of sensory action potentials
10397	NDRG1	HP:0003693	Distal amyotrophy
10397	NDRG1	HP:0002317	Unsteady gait
10397	NDRG1	HP:0007108	Demyelinating peripheral neuropathy
10397	NDRG1	HP:0003621	Juvenile onset
10397	NDRG1	HP:0000649	Abnormality of visual evoked potentials
10397	NDRG1	HP:0009053	Distal lower limb muscle weakness
10397	NDRG1	HP:0006958	Abnormal auditory evoked potentials
10397	NDRG1	HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
10397	NDRG1	HP:0000762	Decreased nerve conduction velocity
10397	NDRG1	HP:0009129	Upper limb amyotrophy
10397	NDRG1	HP:0032649	Skewfoot
10397	NDRG1	HP:0002936	Distal sensory impairment
10397	NDRG1	HP:0000365	Hearing impairment
10397	NDRG1	HP:0000407	Sensorineural hearing impairment
10397	NDRG1	HP:0001765	Hammertoe
10397	NDRG1	HP:0001760	Abnormal foot morphology
10397	NDRG1	HP:0001761	Pes cavus
10398	MYL9	HP:0010945	Fetal pyelectasis
10398	MYL9	HP:0000021	Megacystis
10398	MYL9	HP:0000010	Recurrent urinary tract infections
10398	MYL9	HP:0000007	Autosomal recessive inheritance
10398	MYL9	HP:0002205	Recurrent respiratory infections
10398	MYL9	HP:0100771	Hypoperistalsis
10398	MYL9	HP:0011499	Mydriasis
10398	MYL9	HP:0012762	Cerebral white matter atrophy
10398	MYL9	HP:0000787	Nephrolithiasis
10398	MYL9	HP:0003270	Abdominal distention
10398	MYL9	HP:0001562	Oligohydramnios
10413	YAP1	HP:0001249	Intellectual disability
10413	YAP1	HP:0000006	Autosomal dominant inheritance
10413	YAP1	HP:0000175	Cleft palate
10413	YAP1	HP:0002744	Bilateral cleft lip and palate
10413	YAP1	HP:0003577	Congenital onset
10413	YAP1	HP:0000639	Nystagmus
10413	YAP1	HP:0000648	Optic atrophy
10413	YAP1	HP:0000612	Iris coloboma
10413	YAP1	HP:0000627	Posterior embryotoxon
10413	YAP1	HP:0000790	Hematuria
10413	YAP1	HP:0000204	Cleft upper lip
10413	YAP1	HP:0000365	Hearing impairment
10413	YAP1	HP:0007957	Corneal opacity
10413	YAP1	HP:0000407	Sensorineural hearing impairment
10413	YAP1	HP:0000486	Strabismus
10413	YAP1	HP:0000518	Cataract
10413	YAP1	HP:0000508	Ptosis
10413	YAP1	HP:0000505	Visual impairment
10413	YAP1	HP:0000501	Glaucoma
10413	YAP1	HP:0000568	Microphthalmia
10413	YAP1	HP:0000567	Chorioretinal coloboma
10413	YAP1	HP:0000541	Retinal detachment
10430	TMEM147	HP:0001270	Motor delay
10430	TMEM147	HP:0001252	Hypotonia
10430	TMEM147	HP:0001249	Intellectual disability
10430	TMEM147	HP:0033725	Thin corpus callosum
10430	TMEM147	HP:0001344	Absent speech
10430	TMEM147	HP:0000007	Autosomal recessive inheritance
10430	TMEM147	HP:0001335	Bimanual synkinesia
10430	TMEM147	HP:0000179	Thick lower lip vermilion
10430	TMEM147	HP:0000154	Wide mouth
10430	TMEM147	HP:0012104	Parietal cortical atrophy
10430	TMEM147	HP:0002751	Kyphoscoliosis
10430	TMEM147	HP:0002188	Delayed CNS myelination
10430	TMEM147	HP:0100716	Self-injurious behavior
10430	TMEM147	HP:0002212	Curly hair
10430	TMEM147	HP:0010804	Tented upper lip vermilion
10430	TMEM147	HP:0004209	Clinodactyly of the 5th finger
10430	TMEM147	HP:0000664	Synophrys
10430	TMEM147	HP:0006956	Lateral ventricle dilatation
10430	TMEM147	HP:0031936	Delayed ability to walk
10430	TMEM147	HP:0000752	Hyperactivity
10430	TMEM147	HP:0000739	Anxiety
10430	TMEM147	HP:0000750	Delayed speech and language development
10430	TMEM147	HP:0000718	Aggressive behavior
10430	TMEM147	HP:0011447	Hyposegmentation of neutrophil nuclei
10430	TMEM147	HP:0034295	Reduced cerebral white matter volume
10430	TMEM147	HP:0045075	Sparse eyebrow
10430	TMEM147	HP:0000954	Single transverse palmar crease
10430	TMEM147	HP:0008070	Sparse hair
10430	TMEM147	HP:0000286	Epicanthus
10430	TMEM147	HP:0000280	Coarse facial features
10430	TMEM147	HP:0000276	Long face
10430	TMEM147	HP:0000219	Thin upper lip vermilion
10430	TMEM147	HP:0000232	Everted lower lip vermilion
10430	TMEM147	HP:0000369	Low-set ears
10430	TMEM147	HP:0000343	Long philtrum
10430	TMEM147	HP:0032792	Tonic seizure
10430	TMEM147	HP:0000319	Smooth philtrum
10430	TMEM147	HP:0000316	Hypertelorism
10430	TMEM147	HP:0001655	Patent foramen ovale
10430	TMEM147	HP:0001631	Atrial septal defect
10430	TMEM147	HP:0000407	Sensorineural hearing impairment
10430	TMEM147	HP:0005280	Depressed nasal bridge
10430	TMEM147	HP:0000494	Downslanted palpebral fissures
10430	TMEM147	HP:0011220	Prominent forehead
10436	EMG1	HP:0001250	Seizure
10436	EMG1	HP:0001367	Abnormal joint morphology
10436	EMG1	HP:0001387	Joint stiffness
10436	EMG1	HP:0000028	Cryptorchidism
10436	EMG1	HP:0008872	Feeding difficulties in infancy
10436	EMG1	HP:0008850	Severe postnatal growth retardation
10436	EMG1	HP:0008846	Severe intrauterine growth retardation
10436	EMG1	HP:0000007	Autosomal recessive inheritance
10436	EMG1	HP:0002119	Ventriculomegaly
10436	EMG1	HP:0002101	Abnormal lung lobation
10436	EMG1	HP:0100490	Camptodactyly of finger
10436	EMG1	HP:0004209	Clinodactyly of the 5th finger
10436	EMG1	HP:0011344	Severe global developmental delay
10436	EMG1	HP:0004322	Short stature
10436	EMG1	HP:0030680	Abnormality of cardiovascular system morphology
10436	EMG1	HP:0000252	Microcephaly
10436	EMG1	HP:0001522	Death in infancy
10436	EMG1	HP:0000202	Orofacial cleft
10436	EMG1	HP:0001518	Small for gestational age
10436	EMG1	HP:0000340	Sloping forehead
10436	EMG1	HP:0000347	Micrognathia
10436	EMG1	HP:0000448	Prominent nose
10436	EMG1	HP:0001838	Rocker bottom foot
10452	TOMM40	HP:0002463	Language impairment
10452	TOMM40	HP:0003791	Deposits immunoreactive to beta-amyloid protein
10452	TOMM40	HP:0001276	Hypertonia
10452	TOMM40	HP:0001289	Confusion
10452	TOMM40	HP:0001250	Seizure
10452	TOMM40	HP:0001251	Ataxia
10452	TOMM40	HP:0001249	Intellectual disability
10452	TOMM40	HP:0001336	Myoclonus
10452	TOMM40	HP:0001300	Parkinsonism
10452	TOMM40	HP:0002120	Cerebral cortical atrophy
10452	TOMM40	HP:0002186	Apraxia
10452	TOMM40	HP:0002185	Neurofibrillary tangles
10452	TOMM40	HP:0010526	Dysgraphia
10452	TOMM40	HP:0010525	Finger agnosia
10452	TOMM40	HP:0002381	Aphasia
10452	TOMM40	HP:0002354	Memory impairment
10452	TOMM40	HP:0000657	Oculomotor apraxia
10452	TOMM40	HP:0000738	Hallucinations
10452	TOMM40	HP:0000734	Disinhibition
10452	TOMM40	HP:0000713	Agitation
10452	TOMM40	HP:0000726	Dementia
10452	TOMM40	HP:0011446	Abnormality of higher mental function
10452	TOMM40	HP:0012759	Neurodevelopmental abnormality
10452	TOMM40	HP:0030219	Semantic dementia
10452	TOMM40	HP:0012433	Abnormal social behavior
10452	TOMM40	HP:0000504	Abnormality of vision
10456	HAX1	HP:0002495	Impaired vibratory sensation
10456	HAX1	HP:0001250	Seizure
10456	HAX1	HP:0001249	Intellectual disability
10456	HAX1	HP:0001263	Global developmental delay
10456	HAX1	HP:0000007	Autosomal recessive inheritance
10456	HAX1	HP:0002718	Recurrent bacterial infections
10456	HAX1	HP:0003593	Infantile onset
10456	HAX1	HP:0002312	Clumsiness
10456	HAX1	HP:0011463	Childhood onset
10456	HAX1	HP:0002863	Myelodysplasia
10456	HAX1	HP:0000407	Sensorineural hearing impairment
10456	HAX1	HP:0000405	Conductive hearing impairment
10456	HAX1	HP:0006721	Acute lymphoblastic leukemia
10456	HAX1	HP:0001875	Neutropenia
10457	GPNMB	HP:0000007	Autosomal recessive inheritance
10457	GPNMB	HP:0001034	Hypermelanotic macule
10457	GPNMB	HP:0000989	Pruritus
10457	GPNMB	HP:0000958	Dry skin
10459	MAD2L2	HP:0001172	Abnormal thumb morphology
10459	MAD2L2	HP:0001199	Triphalangeal thumb
10459	MAD2L2	HP:0008572	External ear malformation
10459	MAD2L2	HP:0002414	Spina bifida
10459	MAD2L2	HP:0001249	Intellectual disability
10459	MAD2L2	HP:0001263	Global developmental delay
10459	MAD2L2	HP:0002575	Tracheoesophageal fistula
10459	MAD2L2	HP:0006101	Finger syndactyly
10459	MAD2L2	HP:0007400	Irregular hyperpigmentation
10459	MAD2L2	HP:0100867	Duodenal stenosis
10459	MAD2L2	HP:0008678	Renal hypoplasia/aplasia
10459	MAD2L2	HP:0000083	Renal insufficiency
10459	MAD2L2	HP:0001392	Abnormality of the liver
10459	MAD2L2	HP:0000079	Abnormality of the urinary system
10459	MAD2L2	HP:0000072	Hydroureter
10459	MAD2L2	HP:0012041	Decreased fertility in males
10459	MAD2L2	HP:0000047	Hypospadias
10459	MAD2L2	HP:0001347	Hyperreflexia
10459	MAD2L2	HP:0000035	Abnormal testis morphology
10459	MAD2L2	HP:0000028	Cryptorchidism
10459	MAD2L2	HP:0000027	Azoospermia
10459	MAD2L2	HP:0007565	Multiple cafe-au-lait spots
10459	MAD2L2	HP:0002664	Neoplasm
10459	MAD2L2	HP:0000010	Recurrent urinary tract infections
10459	MAD2L2	HP:0000007	Autosomal recessive inheritance
10459	MAD2L2	HP:0002650	Scoliosis
10459	MAD2L2	HP:0000175	Cleft palate
10459	MAD2L2	HP:0000135	Hypogonadism
10459	MAD2L2	HP:0006265	Aplasia/Hypoplasia of fingers
10459	MAD2L2	HP:0006254	Elevated circulating alpha-fetoprotein concentration
10459	MAD2L2	HP:0000130	Abnormality of the uterus
10459	MAD2L2	HP:0002023	Anal atresia
10459	MAD2L2	HP:0002007	Frontal bossing
10459	MAD2L2	HP:0100542	Abnormal localization of kidney
10459	MAD2L2	HP:0100587	Abnormal preputium morphology
10459	MAD2L2	HP:0010469	Absent testis
10459	MAD2L2	HP:0002119	Ventriculomegaly
10459	MAD2L2	HP:0002245	Meckel diverticulum
10459	MAD2L2	HP:0002251	Aganglionic megacolon
10459	MAD2L2	HP:0100760	Clubbing of toes
10459	MAD2L2	HP:0001053	Hypopigmented skin patches
10459	MAD2L2	HP:0001000	Abnormality of skin pigmentation
10459	MAD2L2	HP:0005528	Bone marrow hypocellularity
10459	MAD2L2	HP:0004209	Clinodactyly of the 5th finger
10459	MAD2L2	HP:0005522	Pyridoxine-responsive sideroblastic anemia
10459	MAD2L2	HP:0006824	Cranial nerve paralysis
10459	MAD2L2	HP:0000639	Nystagmus
10459	MAD2L2	HP:0001903	Anemia
10459	MAD2L2	HP:0012639	Abnormal nervous system morphology
10459	MAD2L2	HP:0004322	Short stature
10459	MAD2L2	HP:0003022	Hypoplasia of the ulna
10459	MAD2L2	HP:0004349	Reduced bone mineral density
10459	MAD2L2	HP:0012745	Short palpebral fissure
10459	MAD2L2	HP:0100026	Arteriovenous malformation
10459	MAD2L2	HP:0011463	Childhood onset
10459	MAD2L2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
10459	MAD2L2	HP:0000813	Bicornuate uterus
10459	MAD2L2	HP:0010293	Aplasia/Hypoplasia of the uvula
10459	MAD2L2	HP:0040071	Abnormal morphology of ulna
10459	MAD2L2	HP:0003220	Abnormality of chromosome stability
10459	MAD2L2	HP:0003221	Chromosomal breakage induced by crosslinking agents
10459	MAD2L2	HP:0008053	Aplasia/Hypoplasia of the iris
10459	MAD2L2	HP:0000286	Epicanthus
10459	MAD2L2	HP:0000268	Dolichocephaly
10459	MAD2L2	HP:0002817	Abnormality of the upper limb
10459	MAD2L2	HP:0002827	Hip dislocation
10459	MAD2L2	HP:0002823	Abnormality of femur morphology
10459	MAD2L2	HP:0000238	Hydrocephalus
10459	MAD2L2	HP:0000252	Microcephaly
10459	MAD2L2	HP:0012210	Abnormal renal morphology
10459	MAD2L2	HP:0000218	High palate
10459	MAD2L2	HP:0001562	Oligohydramnios
10459	MAD2L2	HP:0001537	Umbilical hernia
10459	MAD2L2	HP:0002863	Myelodysplasia
10459	MAD2L2	HP:0001511	Intrauterine growth retardation
10459	MAD2L2	HP:0001510	Growth delay
10459	MAD2L2	HP:0006501	Aplasia/Hypoplasia of the radius
10459	MAD2L2	HP:0007874	Almond-shaped palpebral fissure
10459	MAD2L2	HP:0000365	Hearing impairment
10459	MAD2L2	HP:0000364	Hearing abnormality
10459	MAD2L2	HP:0001671	Abnormal cardiac septum morphology
10459	MAD2L2	HP:0000340	Sloping forehead
10459	MAD2L2	HP:0001679	Abnormal aortic morphology
10459	MAD2L2	HP:0000347	Micrognathia
10459	MAD2L2	HP:0000316	Hypertelorism
10459	MAD2L2	HP:0001646	Abnormal aortic valve morphology
10459	MAD2L2	HP:0001643	Patent ductus arteriosus
10459	MAD2L2	HP:0000324	Facial asymmetry
10459	MAD2L2	HP:0001639	Hypertrophic cardiomyopathy
10459	MAD2L2	HP:0001636	Tetralogy of Fallot
10459	MAD2L2	HP:0001631	Atrial septal defect
10459	MAD2L2	HP:0005344	Abnormal carotid artery morphology
10459	MAD2L2	HP:0000483	Astigmatism
10459	MAD2L2	HP:0000486	Strabismus
10459	MAD2L2	HP:0000478	Abnormality of the eye
10459	MAD2L2	HP:0000492	Abnormal eyelid morphology
10459	MAD2L2	HP:0001770	Toe syndactyly
10459	MAD2L2	HP:0001763	Pes planus
10459	MAD2L2	HP:0000453	Choanal atresia
10459	MAD2L2	HP:0001760	Abnormal foot morphology
10459	MAD2L2	HP:0000518	Cataract
10459	MAD2L2	HP:0000520	Proptosis
10459	MAD2L2	HP:0001824	Weight loss
10459	MAD2L2	HP:0000508	Ptosis
10459	MAD2L2	HP:0000505	Visual impairment
10459	MAD2L2	HP:0000504	Abnormality of vision
10459	MAD2L2	HP:0000582	Upslanted palpebral fissure
10459	MAD2L2	HP:0000568	Microphthalmia
10459	MAD2L2	HP:0001871	Abnormality of blood and blood-forming tissues
10459	MAD2L2	HP:0001882	Leukopenia
10459	MAD2L2	HP:0001873	Thrombocytopenia
10459	MAD2L2	HP:0001875	Neutropenia
10461	MERTK	HP:0001133	Constriction of peripheral visual field
10461	MERTK	HP:0001249	Intellectual disability
10461	MERTK	HP:0007401	Macular atrophy
10461	MERTK	HP:0008736	Hypoplasia of penis
10461	MERTK	HP:0001347	Hyperreflexia
10461	MERTK	HP:0000035	Abnormal testis morphology
10461	MERTK	HP:0000007	Autosomal recessive inheritance
10461	MERTK	HP:0000135	Hypogonadism
10461	MERTK	HP:0007675	Progressive night blindness
10461	MERTK	HP:0005978	Type II diabetes mellitus
10461	MERTK	HP:0200070	Peripheral retinal atrophy
10461	MERTK	HP:0000639	Nystagmus
10461	MERTK	HP:0000648	Optic atrophy
10461	MERTK	HP:0000618	Blindness
10461	MERTK	HP:0000613	Photophobia
10461	MERTK	HP:0000602	Ophthalmoplegia
10461	MERTK	HP:0000662	Nyctalopia
10461	MERTK	HP:0011463	Childhood onset
10461	MERTK	HP:0000842	Hyperinsulinemia
10461	MERTK	HP:0000987	Atypical scarring of skin
10461	MERTK	HP:0008046	Abnormal retinal vascular morphology
10461	MERTK	HP:0007703	Abnormality of retinal pigmentation
10461	MERTK	HP:0001513	Obesity
10461	MERTK	HP:0000407	Sensorineural hearing impairment
10461	MERTK	HP:0000405	Conductive hearing impairment
10461	MERTK	HP:0000463	Anteverted nares
10461	MERTK	HP:0000431	Wide nasal bridge
10461	MERTK	HP:0000518	Cataract
10461	MERTK	HP:0000510	Rod-cone dystrophy
10461	MERTK	HP:0000512	Abnormal electroretinogram
10461	MERTK	HP:0000529	Progressive visual loss
10461	MERTK	HP:0000505	Visual impairment
10461	MERTK	HP:0000501	Glaucoma
10461	MERTK	HP:0000563	Keratoconus
10461	MERTK	HP:0000543	Optic disc pallor
10463	SLC30A9	HP:0001195	Single umbilical artery
10463	SLC30A9	HP:0032232	Increased circulating creatine kinase MB isoform
10463	SLC30A9	HP:0001274	Agenesis of corpus callosum
10463	SLC30A9	HP:0001266	Choreoathetosis
10463	SLC30A9	HP:0001263	Global developmental delay
10463	SLC30A9	HP:0002509	Limb hypertonia
10463	SLC30A9	HP:0000089	Renal hypoplasia
10463	SLC30A9	HP:0000083	Renal insufficiency
10463	SLC30A9	HP:0001332	Dystonia
10463	SLC30A9	HP:0000007	Autosomal recessive inheritance
10463	SLC30A9	HP:0001302	Pachygyria
10463	SLC30A9	HP:0002643	Neonatal respiratory distress
10463	SLC30A9	HP:0008936	Axial hypotonia
10463	SLC30A9	HP:0002070	Limb ataxia
10463	SLC30A9	HP:0100595	Camptocormia
10463	SLC30A9	HP:0002153	Hyperkalemia
10463	SLC30A9	HP:0004719	Hyperechogenic kidneys
10463	SLC30A9	HP:0003593	Infantile onset
10463	SLC30A9	HP:0100702	Arachnoid cyst
10463	SLC30A9	HP:0011968	Feeding difficulties
10463	SLC30A9	HP:0002376	Developmental regression
10463	SLC30A9	HP:0002355	Difficulty walking
10463	SLC30A9	HP:0100660	Dyskinesia
10463	SLC30A9	HP:0003621	Juvenile onset
10463	SLC30A9	HP:0001970	Tubulointerstitial nephritis
10463	SLC30A9	HP:0012625	Stage 3 chronic kidney disease
10463	SLC30A9	HP:0000648	Optic atrophy
10463	SLC30A9	HP:0011344	Severe global developmental delay
10463	SLC30A9	HP:0000657	Oculomotor apraxia
10463	SLC30A9	HP:0000750	Delayed speech and language development
10463	SLC30A9	HP:0011463	Childhood onset
10463	SLC30A9	HP:0011461	Fetal onset
10463	SLC30A9	HP:0000822	Hypertension
10463	SLC30A9	HP:0000297	Facial hypotonia
10463	SLC30A9	HP:0000252	Microcephaly
10463	SLC30A9	HP:0001531	Failure to thrive in infancy
10463	SLC30A9	HP:0001511	Intrauterine growth retardation
10463	SLC30A9	HP:0001510	Growth delay
10463	SLC30A9	HP:0012389	Appendicular hypotonia
10463	SLC30A9	HP:0000408	Progressive sensorineural hearing impairment
10463	SLC30A9	HP:0000486	Strabismus
10463	SLC30A9	HP:0000527	Long eyelashes
10463	SLC30A9	HP:0000508	Ptosis
10463	SLC30A9	HP:0000582	Upslanted palpebral fissure
10464	PIBF1	HP:0001161	Hand polydactyly
10464	PIBF1	HP:0001159	Syndactyly
10464	PIBF1	HP:0002419	Molar tooth sign on MRI
10464	PIBF1	HP:0001288	Gait disturbance
10464	PIBF1	HP:0001250	Seizure
10464	PIBF1	HP:0001252	Hypotonia
10464	PIBF1	HP:0001251	Ataxia
10464	PIBF1	HP:0001249	Intellectual disability
10464	PIBF1	HP:0001263	Global developmental delay
10464	PIBF1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10464	PIBF1	HP:0002553	Highly arched eyebrow
10464	PIBF1	HP:0008872	Feeding difficulties in infancy
10464	PIBF1	HP:0000007	Autosomal recessive inheritance
10464	PIBF1	HP:0001337	Tremor
10464	PIBF1	HP:0001320	Cerebellar vermis hypoplasia
10464	PIBF1	HP:0002650	Scoliosis
10464	PIBF1	HP:0002793	Abnormal pattern of respiration
10464	PIBF1	HP:0003312	Abnormal form of the vertebral bodies
10464	PIBF1	HP:0002084	Encephalocele
10464	PIBF1	HP:0002126	Polymicrogyria
10464	PIBF1	HP:0002104	Apnea
10464	PIBF1	HP:0002188	Delayed CNS myelination
10464	PIBF1	HP:0002269	Abnormality of neuronal migration
10464	PIBF1	HP:0002251	Aganglionic megacolon
10464	PIBF1	HP:0000639	Nystagmus
10464	PIBF1	HP:0000612	Iris coloboma
10464	PIBF1	HP:0000657	Oculomotor apraxia
10464	PIBF1	HP:0030680	Abnormality of cardiovascular system morphology
10464	PIBF1	HP:0004422	Biparietal narrowing
10464	PIBF1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
10464	PIBF1	HP:0000256	Macrocephaly
10464	PIBF1	HP:0000276	Long face
10464	PIBF1	HP:0000238	Hydrocephalus
10464	PIBF1	HP:0002876	Episodic tachypnea
10464	PIBF1	HP:0000202	Orofacial cleft
10464	PIBF1	HP:0001696	Situs inversus totalis
10464	PIBF1	HP:0000369	Low-set ears
10464	PIBF1	HP:0000486	Strabismus
10464	PIBF1	HP:0000463	Anteverted nares
10464	PIBF1	HP:0001744	Splenomegaly
10464	PIBF1	HP:0000426	Prominent nasal bridge
10464	PIBF1	HP:0001829	Foot polydactyly
10464	PIBF1	HP:0000508	Ptosis
10464	PIBF1	HP:0000548	Cone/cone-rod dystrophy
10466	COG5	HP:0010864	Intellectual disability, severe
10466	COG5	HP:0001272	Cerebellar atrophy
10466	COG5	HP:0001270	Motor delay
10466	COG5	HP:0001256	Intellectual disability, mild
10466	COG5	HP:0001250	Seizure
10466	COG5	HP:0001252	Hypotonia
10466	COG5	HP:0001249	Intellectual disability
10466	COG5	HP:0007366	Atrophy/Degeneration affecting the brainstem
10466	COG5	HP:0002506	Diffuse cerebral atrophy
10466	COG5	HP:0000054	Micropenis
10466	COG5	HP:0000020	Urinary incontinence
10466	COG5	HP:0001348	Brisk reflexes
10466	COG5	HP:0000028	Cryptorchidism
10466	COG5	HP:0000011	Neurogenic bladder
10466	COG5	HP:0000007	Autosomal recessive inheritance
10466	COG5	HP:0008947	Infantile muscular hypotonia
10466	COG5	HP:0001433	Hepatosplenomegaly
10466	COG5	HP:0002078	Truncal ataxia
10466	COG5	HP:0002059	Cerebral atrophy
10466	COG5	HP:0009473	Joint contracture of the hand
10466	COG5	HP:0100490	Camptodactyly of finger
10466	COG5	HP:0002240	Hepatomegaly
10466	COG5	HP:0100704	Cerebral visual impairment
10466	COG5	HP:0002342	Intellectual disability, moderate
10466	COG5	HP:0100678	Premature skin wrinkling
10466	COG5	HP:0004322	Short stature
10466	COG5	HP:0006956	Lateral ventricle dilatation
10466	COG5	HP:0000750	Delayed speech and language development
10466	COG5	HP:0000729	Autistic behavior
10466	COG5	HP:0011471	Gastrostomy tube feeding in infancy
10466	COG5	HP:0012762	Cerebral white matter atrophy
10466	COG5	HP:0003160	Abnormal isoelectric focusing of serum transferrin
10466	COG5	HP:0040019	Finger clinodactyly
10466	COG5	HP:0000278	Retrognathia
10466	COG5	HP:0000252	Microcephaly
10466	COG5	HP:0000218	High palate
10466	COG5	HP:0001562	Oligohydramnios
10466	COG5	HP:0002857	Genu valgum
10466	COG5	HP:0001511	Intrauterine growth retardation
10466	COG5	HP:0002910	Elevated hepatic transaminase
10466	COG5	HP:0000365	Hearing impairment
10466	COG5	HP:0000358	Posteriorly rotated ears
10466	COG5	HP:0000369	Low-set ears
10466	COG5	HP:0012301	Type II transferrin isoform profile
10466	COG5	HP:0000407	Sensorineural hearing impairment
10466	COG5	HP:0000486	Strabismus
10466	COG5	HP:0012448	Delayed myelination
10466	COG5	HP:0012444	Brain atrophy
10466	COG5	HP:0000470	Short neck
10466	COG5	HP:0000448	Prominent nose
10466	COG5	HP:0000431	Wide nasal bridge
10466	COG5	HP:0000599	Abnormality of the frontal hairline
10472	ZBTB18	HP:0010945	Fetal pyelectasis
10472	ZBTB18	HP:0010864	Intellectual disability, severe
10472	ZBTB18	HP:0003763	Bruxism
10472	ZBTB18	HP:0001290	Generalized hypotonia
10472	ZBTB18	HP:0001274	Agenesis of corpus callosum
10472	ZBTB18	HP:0001250	Seizure
10472	ZBTB18	HP:0001252	Hypotonia
10472	ZBTB18	HP:0001249	Intellectual disability
10472	ZBTB18	HP:0001263	Global developmental delay
10472	ZBTB18	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10472	ZBTB18	HP:0002553	Highly arched eyebrow
10472	ZBTB18	HP:0001344	Absent speech
10472	ZBTB18	HP:0000006	Autosomal dominant inheritance
10472	ZBTB18	HP:0012171	Stereotypical hand wringing
10472	ZBTB18	HP:0002020	Gastroesophageal reflux
10472	ZBTB18	HP:0002121	Generalized non-motor (absence) seizure
10472	ZBTB18	HP:0002190	Choroid plexus cyst
10472	ZBTB18	HP:0003593	Infantile onset
10472	ZBTB18	HP:0011968	Feeding difficulties
10472	ZBTB18	HP:0003508	Proportionate short stature
10472	ZBTB18	HP:0002376	Developmental regression
10472	ZBTB18	HP:0004322	Short stature
10472	ZBTB18	HP:0012745	Short palpebral fissure
10472	ZBTB18	HP:0000750	Delayed speech and language development
10472	ZBTB18	HP:0003189	Long nose
10472	ZBTB18	HP:0000286	Epicanthus
10472	ZBTB18	HP:0000252	Microcephaly
10472	ZBTB18	HP:0000219	Thin upper lip vermilion
10472	ZBTB18	HP:0000233	Thin vermilion border
10472	ZBTB18	HP:0001511	Intrauterine growth retardation
10472	ZBTB18	HP:0001510	Growth delay
10472	ZBTB18	HP:0000377	Abnormal pinna morphology
10472	ZBTB18	HP:0000369	Low-set ears
10472	ZBTB18	HP:0000347	Micrognathia
10472	ZBTB18	HP:0000319	Smooth philtrum
10472	ZBTB18	HP:0000316	Hypertelorism
10472	ZBTB18	HP:0000311	Round face
10472	ZBTB18	HP:0000322	Short philtrum
10472	ZBTB18	HP:0005280	Depressed nasal bridge
10472	ZBTB18	HP:0000506	Telecanthus
10472	ZBTB18	HP:0011220	Prominent forehead
10479	SLC9A6	HP:0001181	Adducted thumb
10479	SLC9A6	HP:0002487	Hyperkinetic movements
10479	SLC9A6	HP:0010864	Intellectual disability, severe
10479	SLC9A6	HP:0001290	Generalized hypotonia
10479	SLC9A6	HP:0001272	Cerebellar atrophy
10479	SLC9A6	HP:0001250	Seizure
10479	SLC9A6	HP:0001252	Hypotonia
10479	SLC9A6	HP:0001251	Ataxia
10479	SLC9A6	HP:0001238	Slender finger
10479	SLC9A6	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10479	SLC9A6	HP:0007360	Aplasia/Hypoplasia of the cerebellum
10479	SLC9A6	HP:0002529	Neuronal loss in central nervous system
10479	SLC9A6	HP:0001371	Flexion contracture
10479	SLC9A6	HP:0000020	Urinary incontinence
10479	SLC9A6	HP:0008872	Feeding difficulties in infancy
10479	SLC9A6	HP:0001332	Dystonia
10479	SLC9A6	HP:0001344	Absent speech
10479	SLC9A6	HP:0002607	Bowel incontinence
10479	SLC9A6	HP:0000194	Open mouth
10479	SLC9A6	HP:0001419	X-linked recessive inheritance
10479	SLC9A6	HP:0002020	Gastroesophageal reflux
10479	SLC9A6	HP:0002015	Dysphagia
10479	SLC9A6	HP:0002066	Gait ataxia
10479	SLC9A6	HP:0002078	Truncal ataxia
10479	SLC9A6	HP:0002120	Cerebral cortical atrophy
10479	SLC9A6	HP:0002119	Ventriculomegaly
10479	SLC9A6	HP:0002187	Intellectual disability, profound
10479	SLC9A6	HP:0002197	Generalized-onset seizure
10479	SLC9A6	HP:0002360	Sleep disturbance
10479	SLC9A6	HP:0002376	Developmental regression
10479	SLC9A6	HP:0007207	Photosensitive tonic-clonic seizure
10479	SLC9A6	HP:0100613	Death in early adulthood
10479	SLC9A6	HP:0002300	Mutism
10479	SLC9A6	HP:0002307	Drooling
10479	SLC9A6	HP:0006887	Intellectual disability, progressive
10479	SLC9A6	HP:0000639	Nystagmus
10479	SLC9A6	HP:0000602	Ophthalmoplegia
10479	SLC9A6	HP:0011344	Severe global developmental delay
10479	SLC9A6	HP:0004325	Decreased body weight
10479	SLC9A6	HP:0004326	Cachexia
10479	SLC9A6	HP:0005692	Joint hyperflexibility
10479	SLC9A6	HP:0012736	Profound global developmental delay
10479	SLC9A6	HP:0100024	Conspicuously happy disposition
10479	SLC9A6	HP:0000767	Pectus excavatum
10479	SLC9A6	HP:0000765	Abnormal thorax morphology
10479	SLC9A6	HP:0000733	Abnormal repetitive mannerisms
10479	SLC9A6	HP:0000748	Inappropriate laughter
10479	SLC9A6	HP:0000717	Autism
10479	SLC9A6	HP:0000774	Narrow chest
10479	SLC9A6	HP:0003199	Decreased muscle mass
10479	SLC9A6	HP:0003189	Long nose
10479	SLC9A6	HP:0040082	Happy demeanor
10479	SLC9A6	HP:0003202	Skeletal muscle atrophy
10479	SLC9A6	HP:0000275	Narrow face
10479	SLC9A6	HP:0000276	Long face
10479	SLC9A6	HP:0002804	Arthrogryposis multiplex congenita
10479	SLC9A6	HP:0000252	Microcephaly
10479	SLC9A6	HP:0000366	Abnormality of the nose
10479	SLC9A6	HP:0000303	Mandibular prognathia
10479	SLC9A6	HP:0011182	Interictal epileptiform activity
10479	SLC9A6	HP:0000400	Macrotia
10479	SLC9A6	HP:0000486	Strabismus
10479	SLC9A6	HP:0000490	Deeply set eye
10479	SLC9A6	HP:0001760	Abnormal foot morphology
10479	SLC9A6	HP:0006794	Loss of ability to walk in first decade
10479	SLC9A6	HP:0000574	Thick eyebrow
10483	SEC23B	HP:0001156	Brachydactyly
10483	SEC23B	HP:0001250	Seizure
10483	SEC23B	HP:0001251	Ataxia
10483	SEC23B	HP:0001249	Intellectual disability
10483	SEC23B	HP:0001263	Global developmental delay
10483	SEC23B	HP:0008675	Enlarged polycystic ovaries
10483	SEC23B	HP:0010972	Anemia of inadequate production
10483	SEC23B	HP:0002516	Increased intracranial pressure
10483	SEC23B	HP:0012062	Bone cyst
10483	SEC23B	HP:0000077	Abnormality of the kidney
10483	SEC23B	HP:0012032	Lipoma
10483	SEC23B	HP:0000036	Abnormal penis morphology
10483	SEC23B	HP:0007565	Multiple cafe-au-lait spots
10483	SEC23B	HP:0002664	Neoplasm
10483	SEC23B	HP:0000007	Autosomal recessive inheritance
10483	SEC23B	HP:0000006	Autosomal dominant inheritance
10483	SEC23B	HP:0002650	Scoliosis
10483	SEC23B	HP:0001317	Abnormal cerebellum morphology
10483	SEC23B	HP:0000158	Macroglossia
10483	SEC23B	HP:0001482	Subcutaneous nodule
10483	SEC23B	HP:0012114	Endometrial carcinoma
10483	SEC23B	HP:0000130	Abnormality of the uterus
10483	SEC23B	HP:0003352	Endopolyploidy on chromosome studies of bone marrow
10483	SEC23B	HP:0100543	Cognitive impairment
10483	SEC23B	HP:0100579	Mucosal telangiectasiae
10483	SEC23B	HP:0003596	Middle age onset
10483	SEC23B	HP:0003593	Infantile onset
10483	SEC23B	HP:0003584	Late onset
10483	SEC23B	HP:0100780	Conjunctival hamartoma
10483	SEC23B	HP:0009720	Adenoma sebaceum
10483	SEC23B	HP:0010614	Fibroma
10483	SEC23B	HP:0001053	Hypopigmented skin patches
10483	SEC23B	HP:0001048	Cavernous hemangioma
10483	SEC23B	HP:0001028	Hemangioma
10483	SEC23B	HP:0003655	Reduced level of N-acetylglucosaminyltransferase II
10483	SEC23B	HP:0200034	Papule
10483	SEC23B	HP:0200008	Intestinal polyposis
10483	SEC23B	HP:0200063	Colorectal polyposis
10483	SEC23B	HP:0001081	Cholelithiasis
10483	SEC23B	HP:0003621	Juvenile onset
10483	SEC23B	HP:0005595	Generalized hyperkeratosis
10483	SEC23B	HP:0005584	Renal cell carcinoma
10483	SEC23B	HP:0001923	Reticulocytosis
10483	SEC23B	HP:0004322	Short stature
10483	SEC23B	HP:0003002	Breast carcinoma
10483	SEC23B	HP:0004390	Hamartomatous polyposis
10483	SEC23B	HP:0100006	Neoplasm of the central nervous system
10483	SEC23B	HP:0000771	Gynecomastia
10483	SEC23B	HP:0012733	Macule
10483	SEC23B	HP:0012740	Papilloma
10483	SEC23B	HP:0000767	Pectus excavatum
10483	SEC23B	HP:0100031	Neoplasm of the thyroid gland
10483	SEC23B	HP:0000717	Autism
10483	SEC23B	HP:0011463	Childhood onset
10483	SEC23B	HP:0011462	Young adult onset
10483	SEC23B	HP:0000872	Hashimoto thyroiditis
10483	SEC23B	HP:0012844	Trichilemmoma
10483	SEC23B	HP:0000853	Goiter
10483	SEC23B	HP:0000820	Abnormality of the thyroid gland
10483	SEC23B	HP:0000995	Melanocytic nevus
10483	SEC23B	HP:0000982	Palmoplantar keratoderma
10483	SEC23B	HP:0000952	Jaundice
10483	SEC23B	HP:0008069	Neoplasm of the skin
10483	SEC23B	HP:0000256	Macrocephaly
10483	SEC23B	HP:0030075	Ductal carcinoma in situ
10483	SEC23B	HP:0002808	Kyphosis
10483	SEC23B	HP:0000221	Furrowed tongue
10483	SEC23B	HP:0000218	High palate
10483	SEC23B	HP:0002895	Papillary thyroid carcinoma
10483	SEC23B	HP:0002861	Melanoma
10483	SEC23B	HP:0002858	Meningioma
10483	SEC23B	HP:0001508	Failure to thrive
10483	SEC23B	HP:0000365	Hearing impairment
10483	SEC23B	HP:0005374	Cellular immunodeficiency
10483	SEC23B	HP:0001744	Splenomegaly
10483	SEC23B	HP:0006731	Follicular thyroid carcinoma
10483	SEC23B	HP:0000518	Cataract
10483	SEC23B	HP:0000545	Myopia
10484	SEC23A	HP:0008808	High iliac wing
10484	SEC23A	HP:0001388	Joint laxity
10484	SEC23A	HP:0000028	Cryptorchidism
10484	SEC23A	HP:0000007	Autosomal recessive inheritance
10484	SEC23A	HP:0002652	Skeletal dysplasia
10484	SEC23A	HP:0002650	Scoliosis
10484	SEC23A	HP:0000193	Bifid uvula
10484	SEC23A	HP:0000175	Cleft palate
10484	SEC23A	HP:0001476	Delayed closure of the anterior fontanelle
10484	SEC23A	HP:0000154	Wide mouth
10484	SEC23A	HP:0007648	Punctate cataract
10484	SEC23A	HP:0002020	Gastroesophageal reflux
10484	SEC23A	HP:0002007	Frontal bossing
10484	SEC23A	HP:0011800	Midface retrusion
10484	SEC23A	HP:0003577	Congenital onset
10484	SEC23A	HP:0002208	Coarse hair
10484	SEC23A	HP:0002299	Brittle hair
10484	SEC23A	HP:0001000	Abnormality of skin pigmentation
10484	SEC23A	HP:0008444	Posterior wedging of vertebral bodies
10484	SEC23A	HP:0000648	Optic atrophy
10484	SEC23A	HP:0000684	Delayed eruption of teeth
10484	SEC23A	HP:0000691	Microdontia
10484	SEC23A	HP:0000685	Hypoplasia of teeth
10484	SEC23A	HP:0000670	Carious teeth
10484	SEC23A	HP:0004322	Short stature
10484	SEC23A	HP:0004331	Decreased skull ossification
10484	SEC23A	HP:0005692	Joint hyperflexibility
10484	SEC23A	HP:0000750	Delayed speech and language development
10484	SEC23A	HP:0000774	Narrow chest
10484	SEC23A	HP:0000953	Hyperpigmentation of the skin
10484	SEC23A	HP:0000938	Osteopenia
10484	SEC23A	HP:0008070	Sparse hair
10484	SEC23A	HP:0008031	Posterior Y-sutural cataract
10484	SEC23A	HP:0000260	Wide anterior fontanel
10484	SEC23A	HP:0000256	Macrocephaly
10484	SEC23A	HP:0000272	Malar flattening
10484	SEC23A	HP:0000239	Large fontanelles
10484	SEC23A	HP:0000219	Thin upper lip vermilion
10484	SEC23A	HP:0000218	High palate
10484	SEC23A	HP:0000233	Thin vermilion border
10484	SEC23A	HP:0002868	Narrow iliac wing
10484	SEC23A	HP:0006480	Premature loss of teeth
10484	SEC23A	HP:0000343	Long philtrum
10484	SEC23A	HP:0000336	Prominent supraorbital ridges
10484	SEC23A	HP:0000319	Smooth philtrum
10484	SEC23A	HP:0000316	Hypertelorism
10484	SEC23A	HP:0000327	Hypoplasia of the maxilla
10484	SEC23A	HP:0005336	Forehead hyperpigmentation
10484	SEC23A	HP:0005306	Capillary hemangioma
10484	SEC23A	HP:0000463	Anteverted nares
10484	SEC23A	HP:0001763	Pes planus
10484	SEC23A	HP:0000445	Wide nose
10484	SEC23A	HP:0000431	Wide nasal bridge
10484	SEC23A	HP:0000426	Prominent nasal bridge
10484	SEC23A	HP:0000565	Esotropia
10486	CAP2	HP:0100578	Lipoatrophy
10486	CAP2	HP:0003457	EMG abnormality
10486	CAP2	HP:0003198	Myopathy
10486	CAP2	HP:0003236	Elevated circulating creatine kinase concentration
10486	CAP2	HP:0000982	Palmoplantar keratoderma
10486	CAP2	HP:0001644	Dilated cardiomyopathy
10486	CAP2	HP:0000407	Sensorineural hearing impairment
10486	CAP2	HP:0001874	Abnormality of neutrophils
10491	CRTAP	HP:0001249	Intellectual disability
10491	CRTAP	HP:0008796	Femoral retroversion
10491	CRTAP	HP:0000007	Autosomal recessive inheritance
10491	CRTAP	HP:0002650	Scoliosis
10491	CRTAP	HP:0002645	Wormian bones
10491	CRTAP	HP:0008905	Rhizomelia
10491	CRTAP	HP:0000126	Hydronephrosis
10491	CRTAP	HP:0002757	Recurrent fractures
10491	CRTAP	HP:0010537	Wide cranial sutures
10491	CRTAP	HP:0004960	Absent pulmonary artery
10491	CRTAP	HP:0004322	Short stature
10491	CRTAP	HP:0000767	Pectus excavatum
10491	CRTAP	HP:0000703	Dentinogenesis imperfecta
10491	CRTAP	HP:0000774	Narrow chest
10491	CRTAP	HP:0003179	Protrusio acetabuli
10491	CRTAP	HP:0005855	Multiple prenatal fractures
10491	CRTAP	HP:0000938	Osteopenia
10491	CRTAP	HP:0000260	Wide anterior fontanel
10491	CRTAP	HP:0000270	Delayed cranial suture closure
10491	CRTAP	HP:0002812	Coxa vara
10491	CRTAP	HP:0006367	Crumpled long bones
10491	CRTAP	HP:0001522	Death in infancy
10491	CRTAP	HP:0000364	Hearing abnormality
10491	CRTAP	HP:0000343	Long philtrum
10491	CRTAP	HP:0002983	Micromelia
10491	CRTAP	HP:0002979	Bowing of the legs
10491	CRTAP	HP:0000311	Round face
10491	CRTAP	HP:0002953	Vertebral compression fracture
10491	CRTAP	HP:0001623	Breech presentation
10491	CRTAP	HP:0005304	Hypoplastic pulmonary veins
10491	CRTAP	HP:0006640	Multiple rib fractures
10491	CRTAP	HP:0005474	Decreased calvarial ossification
10491	CRTAP	HP:0000520	Proptosis
10491	CRTAP	HP:0000592	Blue sclerae
10501	SEMA6B	HP:0010864	Intellectual disability, severe
10501	SEMA6B	HP:0001272	Cerebellar atrophy
10501	SEMA6B	HP:0001250	Seizure
10501	SEMA6B	HP:0001251	Ataxia
10501	SEMA6B	HP:0001263	Global developmental delay
10501	SEMA6B	HP:0025352	Typically de novo
10501	SEMA6B	HP:0001347	Hyperreflexia
10501	SEMA6B	HP:0000006	Autosomal dominant inheritance
10501	SEMA6B	HP:0001336	Myoclonus
10501	SEMA6B	HP:0001320	Cerebellar vermis hypoplasia
10501	SEMA6B	HP:0001312	Giant somatosensory evoked potentials
10501	SEMA6B	HP:0002725	Systemic lupus erythematosus
10501	SEMA6B	HP:0002080	Intention tremor
10501	SEMA6B	HP:0002063	Rigidity
10501	SEMA6B	HP:0002376	Developmental regression
10501	SEMA6B	HP:0031936	Delayed ability to walk
10501	SEMA6B	HP:0000750	Delayed speech and language development
10507	SEMA4D	HP:0003700	Generalized amyotrophy
10507	SEMA4D	HP:0001298	Encephalopathy
10507	SEMA4D	HP:0100869	Palmar telangiectasia
10507	SEMA4D	HP:0000083	Renal insufficiency
10507	SEMA4D	HP:0001396	Cholestasis
10507	SEMA4D	HP:0001395	Hepatic fibrosis
10507	SEMA4D	HP:0001394	Cirrhosis
10507	SEMA4D	HP:0002608	Celiac disease
10507	SEMA4D	HP:0012115	Hepatitis
10507	SEMA4D	HP:0001433	Hepatosplenomegaly
10507	SEMA4D	HP:0001409	Portal hypertension
10507	SEMA4D	HP:0001402	Hepatocellular carcinoma
10507	SEMA4D	HP:0002027	Abdominal pain
10507	SEMA4D	HP:0100512	Low levels of vitamin D
10507	SEMA4D	HP:0100513	Low levels of vitamin E
10507	SEMA4D	HP:0100575	Neoplasm of the gallbladder
10507	SEMA4D	HP:0040275	Adenocarcinoma of the large intestine
10507	SEMA4D	HP:0008151	Prolonged prothrombin time
10507	SEMA4D	HP:0003459	Polyclonal elevation of IgM
10507	SEMA4D	HP:0011892	Low levels of vitamin K
10507	SEMA4D	HP:0002240	Hepatomegaly
10507	SEMA4D	HP:0002202	Pleural effusion
10507	SEMA4D	HP:0100727	Histiocytosis
10507	SEMA4D	HP:0010638	Elevated alkaline phosphatase of hepatic origin
10507	SEMA4D	HP:0100651	Type I diabetes mellitus
10507	SEMA4D	HP:0100646	Thyroiditis
10507	SEMA4D	HP:0100626	Chronic hepatic failure
10507	SEMA4D	HP:0001081	Cholelithiasis
10507	SEMA4D	HP:0004905	Low levels of vitamin A
10507	SEMA4D	HP:0001945	Fever
10507	SEMA4D	HP:0003073	Hypoalbuminemia
10507	SEMA4D	HP:0012700	Abnormal large intestine physiology
10507	SEMA4D	HP:0000716	Depression
10507	SEMA4D	HP:0100279	Ulcerative colitis
10507	SEMA4D	HP:0000989	Pruritus
10507	SEMA4D	HP:0000952	Jaundice
10507	SEMA4D	HP:0000939	Osteoporosis
10507	SEMA4D	HP:0000938	Osteopenia
10507	SEMA4D	HP:0001541	Ascites
10507	SEMA4D	HP:0012378	Fatigue
10507	SEMA4D	HP:0011034	Amyloidosis
10507	SEMA4D	HP:0006554	Acute hepatic failure
10507	SEMA4D	HP:0002910	Elevated hepatic transaminase
10507	SEMA4D	HP:0030153	Cholangiocarcinoma
10507	SEMA4D	HP:0002960	Autoimmunity
10507	SEMA4D	HP:0030168	Dilated superficial abdominal veins
10507	SEMA4D	HP:0001635	Congestive heart failure
10507	SEMA4D	HP:0001733	Pancreatitis
10507	SEMA4D	HP:0012440	Abnormal biliary tract morphology
10507	SEMA4D	HP:0001744	Splenomegaly
10507	SEMA4D	HP:0005429	Recurrent systemic pyogenic infections
10507	SEMA4D	HP:0001824	Weight loss
10507	SEMA4D	HP:0000554	Uveitis
10507	SEMA4D	HP:0012522	Spider hemangioma
10507	SEMA4D	HP:0001879	Abnormal eosinophil morphology
10512	SEMA3C	HP:0001181	Adducted thumb
10512	SEMA3C	HP:0100806	Sepsis
10512	SEMA3C	HP:0001249	Intellectual disability
10512	SEMA3C	HP:0002019	Constipation
10512	SEMA3C	HP:0002017	Nausea and vomiting
10512	SEMA3C	HP:0002027	Abdominal pain
10512	SEMA3C	HP:0002014	Diarrhea
10512	SEMA3C	HP:0002251	Aganglionic megacolon
10512	SEMA3C	HP:0200008	Intestinal polyposis
10512	SEMA3C	HP:0004322	Short stature
10512	SEMA3C	HP:0100031	Neoplasm of the thyroid gland
10512	SEMA3C	HP:0012719	Functional abnormality of the gastrointestinal tract
10512	SEMA3C	HP:0001531	Failure to thrive in infancy
10512	SEMA3C	HP:0005214	Intestinal obstruction
10512	SEMA3C	HP:0000407	Sensorineural hearing impairment
10512	SEMA3C	HP:0001824	Weight loss
10516	FBLN5	HP:0001181	Adducted thumb
10516	FBLN5	HP:0001166	Arachnodactyly
10516	FBLN5	HP:0002460	Distal muscle weakness
10516	FBLN5	HP:0025167	Fragmented elastic fibers in the dermis
10516	FBLN5	HP:0001270	Motor delay
10516	FBLN5	HP:0001252	Hypotonia
10516	FBLN5	HP:0001249	Intellectual disability
10516	FBLN5	HP:0001263	Global developmental delay
10516	FBLN5	HP:0008722	Urethral diverticulum
10516	FBLN5	HP:0000076	Vesicoureteral reflux
10516	FBLN5	HP:0001388	Joint laxity
10516	FBLN5	HP:0001382	Joint hypermobility
10516	FBLN5	HP:0000023	Inguinal hernia
10516	FBLN5	HP:0000015	Bladder diverticulum
10516	FBLN5	HP:0001348	Brisk reflexes
10516	FBLN5	HP:0002677	Small foramen magnum
10516	FBLN5	HP:0008897	Postnatal growth retardation
10516	FBLN5	HP:0007522	Increased number of skin folds
10516	FBLN5	HP:0007495	Prematurely aged appearance
10516	FBLN5	HP:0001332	Dystonia
10516	FBLN5	HP:0000010	Recurrent urinary tract infections
10516	FBLN5	HP:0000007	Autosomal recessive inheritance
10516	FBLN5	HP:0000006	Autosomal dominant inheritance
10516	FBLN5	HP:0002650	Scoliosis
10516	FBLN5	HP:0002645	Wormian bones
10516	FBLN5	HP:0002617	Vascular dilatation
10516	FBLN5	HP:0008959	Distal upper limb muscle weakness
10516	FBLN5	HP:0008944	Distal lower limb amyotrophy
10516	FBLN5	HP:0000122	Unilateral renal agenesis
10516	FBLN5	HP:0002756	Pathologic fracture
10516	FBLN5	HP:0002021	Pyloric stenosis
10516	FBLN5	HP:0005989	Redundant neck skin
10516	FBLN5	HP:0002013	Vomiting
10516	FBLN5	HP:0002011	Morphological central nervous system abnormality
10516	FBLN5	HP:0011808	Decreased patellar reflex
10516	FBLN5	HP:0002097	Emphysema
10516	FBLN5	HP:0002093	Respiratory insufficiency
10516	FBLN5	HP:0100512	Low levels of vitamin D
10516	FBLN5	HP:0003477	Peripheral axonal neuropathy
10516	FBLN5	HP:0002110	Bronchiectasis
10516	FBLN5	HP:0002107	Pneumothorax
10516	FBLN5	HP:0003596	Middle age onset
10516	FBLN5	HP:0003577	Congenital onset
10516	FBLN5	HP:0002256	Small bowel diverticula
10516	FBLN5	HP:0003584	Late onset
10516	FBLN5	HP:0003581	Adult onset
10516	FBLN5	HP:0002205	Recurrent respiratory infections
10516	FBLN5	HP:0100790	Hernia
10516	FBLN5	HP:0010674	Abnormality of the curvature of the vertebral column
10516	FBLN5	HP:0010648	Dermal translucency
10516	FBLN5	HP:0011968	Feeding difficulties
10516	FBLN5	HP:0011950	Bronchiolitis
10516	FBLN5	HP:0003510	Severe short stature
10516	FBLN5	HP:0001058	Poor wound healing
10516	FBLN5	HP:0003693	Distal amyotrophy
10516	FBLN5	HP:0025082	Abnormal cutaneous elastic fiber morphology
10516	FBLN5	HP:0100678	Premature skin wrinkling
10516	FBLN5	HP:0100679	Lack of skin elasticity
10516	FBLN5	HP:0007149	Distal upper limb amyotrophy
10516	FBLN5	HP:0032153	Joint subluxation
10516	FBLN5	HP:0010750	Dermatochalasis
10516	FBLN5	HP:0004970	Ascending tubular aorta aneurysm
10516	FBLN5	HP:0004969	Peripheral pulmonary artery stenosis
10516	FBLN5	HP:0004948	Vascular tortuosity
10516	FBLN5	HP:0004942	Aortic aneurysm
10516	FBLN5	HP:0006844	Absent patellar reflexes
10516	FBLN5	HP:0012619	Multiple bladder diverticula
10516	FBLN5	HP:0000608	Macular degeneration
10516	FBLN5	HP:0009053	Distal lower limb muscle weakness
10516	FBLN5	HP:0001999	Abnormal facial shape
10516	FBLN5	HP:0030680	Abnormality of cardiovascular system morphology
10516	FBLN5	HP:0004381	Supravalvular aortic stenosis
10516	FBLN5	HP:0000767	Pectus excavatum
10516	FBLN5	HP:0000762	Decreased nerve conduction velocity
10516	FBLN5	HP:0000729	Autistic behavior
10516	FBLN5	HP:0011463	Childhood onset
10516	FBLN5	HP:0011462	Young adult onset
10516	FBLN5	HP:0000776	Congenital diaphragmatic hernia
10516	FBLN5	HP:0004426	Abnormal cheek morphology
10516	FBLN5	HP:0000929	Abnormal skull morphology
10516	FBLN5	HP:0011510	Drusen
10516	FBLN5	HP:0011506	Choroidal neovascularization
10516	FBLN5	HP:0030872	Abnormal cardiac ventricular function
10516	FBLN5	HP:0045027	Abnormality of the thoracic cavity
10516	FBLN5	HP:0000974	Hyperextensible skin
10516	FBLN5	HP:0000973	Cutis laxa
10516	FBLN5	HP:0000938	Osteopenia
10516	FBLN5	HP:0000260	Wide anterior fontanel
10516	FBLN5	HP:0000271	Abnormality of the face
10516	FBLN5	HP:0000270	Delayed cranial suture closure
10516	FBLN5	HP:0002816	Genu recurvatum
10516	FBLN5	HP:0002827	Hip dislocation
10516	FBLN5	HP:0000252	Microcephaly
10516	FBLN5	HP:0001582	Redundant skin
10516	FBLN5	HP:0001548	Overgrowth
10516	FBLN5	HP:0001562	Oligohydramnios
10516	FBLN5	HP:0001537	Umbilical hernia
10516	FBLN5	HP:0001511	Intrauterine growth retardation
10516	FBLN5	HP:0006532	Recurrent pneumonia
10516	FBLN5	HP:0002936	Distal sensory impairment
10516	FBLN5	HP:0011004	Abnormal systemic arterial morphology
10516	FBLN5	HP:0000369	Low-set ears
10516	FBLN5	HP:0012330	Pyelonephritis
10516	FBLN5	HP:0000337	Broad forehead
10516	FBLN5	HP:0001680	Coarctation of aorta
10516	FBLN5	HP:0001659	Aortic regurgitation
10516	FBLN5	HP:0001653	Mitral regurgitation
10516	FBLN5	HP:0000325	Triangular face
10516	FBLN5	HP:0001635	Congestive heart failure
10516	FBLN5	HP:0007957	Corneal opacity
10516	FBLN5	HP:0006698	Dilatation of the ventricular cavity
10516	FBLN5	HP:0000486	Strabismus
10516	FBLN5	HP:0000494	Downslanted palpebral fissures
10516	FBLN5	HP:0001763	Pes planus
10516	FBLN5	HP:0000411	Protruding ear
10516	FBLN5	HP:0001762	Talipes equinovarus
10516	FBLN5	HP:0001761	Pes cavus
10516	FBLN5	HP:0000518	Cataract
10516	FBLN5	HP:0000519	Developmental cataract
10516	FBLN5	HP:0000508	Ptosis
10516	FBLN5	HP:0011220	Prominent forehead
10516	FBLN5	HP:0001884	Talipes calcaneovalgus
10518	CIB2	HP:0001270	Motor delay
10518	CIB2	HP:0001251	Ataxia
10518	CIB2	HP:0001249	Intellectual disability
10518	CIB2	HP:0001263	Global developmental delay
10518	CIB2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
10518	CIB2	HP:0000007	Autosomal recessive inheritance
10518	CIB2	HP:0012157	Subcortical cerebral atrophy
10518	CIB2	HP:0002120	Cerebral cortical atrophy
10518	CIB2	HP:0003577	Congenital onset
10518	CIB2	HP:0100753	Schizophrenia
10518	CIB2	HP:0008499	High hypermetropia
10518	CIB2	HP:0000682	Abnormal dental enamel morphology
10518	CIB2	HP:0000662	Nyctalopia
10518	CIB2	HP:0000738	Hallucinations
10518	CIB2	HP:0000739	Anxiety
10518	CIB2	HP:0000716	Depression
10518	CIB2	HP:0011476	Profound sensorineural hearing impairment
10518	CIB2	HP:0007730	Iris hypopigmentation
10518	CIB2	HP:0012377	Hemianopia
10518	CIB2	HP:0000375	Abnormal cochlea morphology
10518	CIB2	HP:0000407	Sensorineural hearing impairment
10518	CIB2	HP:0001751	Abnormal vestibular function
10518	CIB2	HP:0001756	Vestibular hypofunction
10518	CIB2	HP:0000518	Cataract
10518	CIB2	HP:0000510	Rod-cone dystrophy
10518	CIB2	HP:0000512	Abnormal electroretinogram
10518	CIB2	HP:0000575	Scotoma
10518	CIB2	HP:0000572	Visual loss
10519	CIB1	HP:0007565	Multiple cafe-au-lait spots
10519	CIB1	HP:0002671	Basal cell carcinoma
10519	CIB1	HP:0000007	Autosomal recessive inheritance
10519	CIB1	HP:0002715	Abnormality of the immune system
10519	CIB1	HP:0100585	Telangiectasia of the skin
10519	CIB1	HP:0010610	Palmar pits
10519	CIB1	HP:0001051	Seborrheic dermatitis
10519	CIB1	HP:0001053	Hypopigmented skin patches
10519	CIB1	HP:0025092	Epidermal acanthosis
10519	CIB1	HP:0200035	Skin plaque
10519	CIB1	HP:0200034	Papule
10519	CIB1	HP:0200039	Pustule
10519	CIB1	HP:0200043	Verrucae
10519	CIB1	HP:0003621	Juvenile onset
10519	CIB1	HP:0011463	Childhood onset
10519	CIB1	HP:0011462	Young adult onset
10519	CIB1	HP:0001581	Recurrent skin infections
10519	CIB1	HP:0002860	Squamous cell carcinoma
10522	DEAF1	HP:0001156	Brachydactyly
10522	DEAF1	HP:0001161	Hand polydactyly
10522	DEAF1	HP:0007328	Impaired pain sensation
10522	DEAF1	HP:0001270	Motor delay
10522	DEAF1	HP:0001288	Gait disturbance
10522	DEAF1	HP:0001250	Seizure
10522	DEAF1	HP:0001252	Hypotonia
10522	DEAF1	HP:0001249	Intellectual disability
10522	DEAF1	HP:0001265	Hyporeflexia
10522	DEAF1	HP:0001263	Global developmental delay
10522	DEAF1	HP:0410263	Brain imaging abnormality
10522	DEAF1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10522	DEAF1	HP:0008678	Renal hypoplasia/aplasia
10522	DEAF1	HP:0001212	Prominent fingertip pads
10522	DEAF1	HP:0002515	Waddling gait
10522	DEAF1	HP:0000069	Abnormality of the ureter
10522	DEAF1	HP:0001388	Joint laxity
10522	DEAF1	HP:0001387	Joint stiffness
10522	DEAF1	HP:0008872	Feeding difficulties in infancy
10522	DEAF1	HP:0001344	Absent speech
10522	DEAF1	HP:0000007	Autosomal recessive inheritance
10522	DEAF1	HP:0000006	Autosomal dominant inheritance
10522	DEAF1	HP:0002650	Scoliosis
10522	DEAF1	HP:0000179	Thick lower lip vermilion
10522	DEAF1	HP:0000194	Open mouth
10522	DEAF1	HP:0000175	Cleft palate
10522	DEAF1	HP:0008947	Infantile muscular hypotonia
10522	DEAF1	HP:0002719	Recurrent infections
10522	DEAF1	HP:0002020	Gastroesophageal reflux
10522	DEAF1	HP:0002019	Constipation
10522	DEAF1	HP:0002007	Frontal bossing
10522	DEAF1	HP:0003312	Abnormal form of the vertebral bodies
10522	DEAF1	HP:0011800	Midface retrusion
10522	DEAF1	HP:0100542	Abnormal localization of kidney
10522	DEAF1	HP:0002069	Bilateral tonic-clonic seizure
10522	DEAF1	HP:0002066	Gait ataxia
10522	DEAF1	HP:0002141	Gait imbalance
10522	DEAF1	HP:0002155	Hypertriglyceridemia
10522	DEAF1	HP:0002119	Ventriculomegaly
10522	DEAF1	HP:0002136	Broad-based gait
10522	DEAF1	HP:0002133	Status epilepticus
10522	DEAF1	HP:0002167	Abnormality of speech or vocalization
10522	DEAF1	HP:0003593	Infantile onset
10522	DEAF1	HP:0100716	Self-injurious behavior
10522	DEAF1	HP:0002213	Fine hair
10522	DEAF1	HP:0100729	Large face
10522	DEAF1	HP:0007021	Pain insensitivity
10522	DEAF1	HP:0007016	Corticospinal tract hypoplasia
10522	DEAF1	HP:0007018	Attention deficit hyperactivity disorder
10522	DEAF1	HP:0011968	Feeding difficulties
10522	DEAF1	HP:0002360	Sleep disturbance
10522	DEAF1	HP:0002376	Developmental regression
10522	DEAF1	HP:0002353	EEG abnormality
10522	DEAF1	HP:0002317	Unsteady gait
10522	DEAF1	HP:0010832	Abnormality of pain sensation
10522	DEAF1	HP:0100660	Dyskinesia
10522	DEAF1	HP:0009830	Peripheral neuropathy
10522	DEAF1	HP:0010804	Tented upper lip vermilion
10522	DEAF1	HP:0010780	Hyperacusis
10522	DEAF1	HP:0002312	Clumsiness
10522	DEAF1	HP:0002307	Drooling
10522	DEAF1	HP:0004209	Clinodactyly of the 5th finger
10522	DEAF1	HP:0011344	Severe global developmental delay
10522	DEAF1	HP:0000680	Delayed eruption of primary teeth
10522	DEAF1	HP:0000679	Taurodontia
10522	DEAF1	HP:0000664	Synophrys
10522	DEAF1	HP:0004322	Short stature
10522	DEAF1	HP:0004305	Involuntary movements
10522	DEAF1	HP:0005607	Abnormal tracheobronchial morphology
10522	DEAF1	HP:0030680	Abnormality of cardiovascular system morphology
10522	DEAF1	HP:0000739	Anxiety
10522	DEAF1	HP:0000733	Abnormal repetitive mannerisms
10522	DEAF1	HP:0000750	Delayed speech and language development
10522	DEAF1	HP:0000718	Aggressive behavior
10522	DEAF1	HP:0000717	Autism
10522	DEAF1	HP:0000712	Emotional lability
10522	DEAF1	HP:0000713	Agitation
10522	DEAF1	HP:0000729	Autistic behavior
10522	DEAF1	HP:0003124	Hypercholesterolemia
10522	DEAF1	HP:0005709	2-3 toe cutaneous syndactyly
10522	DEAF1	HP:0003196	Short nose
10522	DEAF1	HP:0000817	Reduced eye contact
10522	DEAF1	HP:0000826	Precocious puberty
10522	DEAF1	HP:0000821	Hypothyroidism
10522	DEAF1	HP:0000823	Delayed puberty
10522	DEAF1	HP:0000960	Sacral dimple
10522	DEAF1	HP:0000286	Epicanthus
10522	DEAF1	HP:0000256	Macrocephaly
10522	DEAF1	HP:0000252	Microcephaly
10522	DEAF1	HP:0000248	Brachycephaly
10522	DEAF1	HP:0000218	High palate
10522	DEAF1	HP:0001558	Decreased fetal movement
10522	DEAF1	HP:0001531	Failure to thrive in infancy
10522	DEAF1	HP:0000204	Cleft upper lip
10522	DEAF1	HP:0030051	Tip-toe gait
10522	DEAF1	HP:0001513	Obesity
10522	DEAF1	HP:0012368	Flat face
10522	DEAF1	HP:0000389	Chronic otitis media
10522	DEAF1	HP:0001609	Hoarse voice
10522	DEAF1	HP:0000337	Broad forehead
10522	DEAF1	HP:0000349	Widow's peak
10522	DEAF1	HP:0000347	Micrognathia
10522	DEAF1	HP:0000316	Hypertelorism
10522	DEAF1	HP:0000322	Short philtrum
10522	DEAF1	HP:0000303	Mandibular prognathia
10522	DEAF1	HP:0000405	Conductive hearing impairment
10522	DEAF1	HP:0005280	Depressed nasal bridge
10522	DEAF1	HP:0000486	Strabismus
10522	DEAF1	HP:0000482	Microcornea
10522	DEAF1	HP:0000490	Deeply set eye
10522	DEAF1	HP:0000463	Anteverted nares
10522	DEAF1	HP:0001770	Toe syndactyly
10522	DEAF1	HP:0001763	Pes planus
10522	DEAF1	HP:0000431	Wide nasal bridge
10522	DEAF1	HP:0000582	Upslanted palpebral fissure
10522	DEAF1	HP:0011228	Horizontal eyebrow
10522	DEAF1	HP:0000541	Retinal detachment
10522	DEAF1	HP:0000545	Myopia
10524	KAT5	HP:0025161	Frequent temper tantrums
10524	KAT5	HP:0010864	Intellectual disability, severe
10524	KAT5	HP:0001272	Cerebellar atrophy
10524	KAT5	HP:0001250	Seizure
10524	KAT5	HP:0001263	Global developmental delay
10524	KAT5	HP:0000085	Horseshoe kidney
10524	KAT5	HP:0000076	Vesicoureteral reflux
10524	KAT5	HP:0000047	Hypospadias
10524	KAT5	HP:0000028	Cryptorchidism
10524	KAT5	HP:0000010	Recurrent urinary tract infections
10524	KAT5	HP:0001338	Partial agenesis of the corpus callosum
10524	KAT5	HP:0000006	Autosomal dominant inheritance
10524	KAT5	HP:0032471	Focal polymicrogyria
10524	KAT5	HP:0000179	Thick lower lip vermilion
10524	KAT5	HP:0012168	Head-banging
10524	KAT5	HP:0000176	Submucous cleft hard palate
10524	KAT5	HP:0000154	Wide mouth
10524	KAT5	HP:0003577	Congenital onset
10524	KAT5	HP:0007018	Attention deficit hyperactivity disorder
10524	KAT5	HP:0002360	Sleep disturbance
10524	KAT5	HP:0006989	Dysplastic corpus callosum
10524	KAT5	HP:0100333	Unilateral cleft lip
10524	KAT5	HP:0100334	Unilateral cleft palate
10524	KAT5	HP:0000252	Microcephaly
10524	KAT5	HP:0012368	Flat face
10524	KAT5	HP:0007874	Almond-shaped palpebral fissure
10524	KAT5	HP:0005164	Dysplastic pulmonary valve
10524	KAT5	HP:0011003	High myopia
10524	KAT5	HP:0000369	Low-set ears
10524	KAT5	HP:0000311	Round face
10524	KAT5	HP:0001629	Ventricular septal defect
10524	KAT5	HP:0000303	Mandibular prognathia
10524	KAT5	HP:0005338	Sparse lateral eyebrow
10524	KAT5	HP:0005280	Depressed nasal bridge
10524	KAT5	HP:0000486	Strabismus
10524	KAT5	HP:0000494	Downslanted palpebral fissures
10524	KAT5	HP:0000414	Bulbous nose
10524	KAT5	HP:0011225	Epiblepharon
10524	KAT5	HP:0000540	Hypermetropia
10525	HYOU1	HP:0009890	High anterior hairline
10525	HYOU1	HP:0100806	Sepsis
10525	HYOU1	HP:0001238	Slender finger
10525	HYOU1	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
10525	HYOU1	HP:0012089	Arteritis
10525	HYOU1	HP:0000007	Autosomal recessive inheritance
10525	HYOU1	HP:0002783	Recurrent lower respiratory tract infections
10525	HYOU1	HP:0002788	Recurrent upper respiratory tract infections
10525	HYOU1	HP:0002721	Immunodeficiency
10525	HYOU1	HP:0002024	Malabsorption
10525	HYOU1	HP:0002028	Chronic diarrhea
10525	HYOU1	HP:0002240	Hepatomegaly
10525	HYOU1	HP:0003623	Neonatal onset
10525	HYOU1	HP:0001943	Hypoglycemia
10525	HYOU1	HP:0004322	Short stature
10525	HYOU1	HP:0004313	Decreased circulating antibody level
10525	HYOU1	HP:0000768	Pectus carinatum
10525	HYOU1	HP:0040154	Acne inversa
10525	HYOU1	HP:0000275	Narrow face
10525	HYOU1	HP:0001581	Recurrent skin infections
10525	HYOU1	HP:0000218	High palate
10525	HYOU1	HP:0006579	Prolonged neonatal jaundice
10525	HYOU1	HP:0000347	Micrognathia
10525	HYOU1	HP:0012302	Herpes simplex encephalitis
10525	HYOU1	HP:0000300	Oval face
10525	HYOU1	HP:0000460	Narrow nose
10525	HYOU1	HP:0011107	Recurrent aphthous stomatitis
10525	HYOU1	HP:0000431	Wide nasal bridge
10525	HYOU1	HP:0030388	Decreased proportion of class-switched memory B cells
10526	IPO8	HP:0025116	Fetal distress
10526	IPO8	HP:0001166	Arachnodactyly
10526	IPO8	HP:0100802	Malposition of the stomach
10526	IPO8	HP:0001270	Motor delay
10526	IPO8	HP:0001252	Hypotonia
10526	IPO8	HP:0001249	Intellectual disability
10526	IPO8	HP:0001263	Global developmental delay
10526	IPO8	HP:0002566	Intestinal malrotation
10526	IPO8	HP:0007394	Prominent superficial blood vessels
10526	IPO8	HP:0410323	Drug allergy
10526	IPO8	HP:0000098	Tall stature
10526	IPO8	HP:0001373	Joint dislocation
10526	IPO8	HP:0001385	Hip dysplasia
10526	IPO8	HP:0001388	Joint laxity
10526	IPO8	HP:0001382	Joint hypermobility
10526	IPO8	HP:0000023	Inguinal hernia
10526	IPO8	HP:0001363	Craniosynostosis
10526	IPO8	HP:0000007	Autosomal recessive inheritance
10526	IPO8	HP:0002650	Scoliosis
10526	IPO8	HP:0002647	Aortic dissection
10526	IPO8	HP:0002616	Aortic root aneurysm
10526	IPO8	HP:0002617	Vascular dilatation
10526	IPO8	HP:0002608	Celiac disease
10526	IPO8	HP:0000185	Cleft soft palate
10526	IPO8	HP:0000193	Bifid uvula
10526	IPO8	HP:0012163	Carotid artery dilatation
10526	IPO8	HP:0000158	Macroglossia
10526	IPO8	HP:0002705	High, narrow palate
10526	IPO8	HP:0031298	Coronary sinus enlargement
10526	IPO8	HP:0000126	Hydronephrosis
10526	IPO8	HP:0002761	Generalized joint laxity
10526	IPO8	HP:0002720	Decreased circulating IgA level
10526	IPO8	HP:0002020	Gastroesophageal reflux
10526	IPO8	HP:0002028	Chronic diarrhea
10526	IPO8	HP:0002015	Dysphagia
10526	IPO8	HP:0002007	Frontal bossing
10526	IPO8	HP:0003316	Butterfly vertebrae
10526	IPO8	HP:0011819	Submucous cleft soft palate
10526	IPO8	HP:0002099	Asthma
10526	IPO8	HP:0002097	Emphysema
10526	IPO8	HP:0002094	Dyspnea
10526	IPO8	HP:0002092	Pulmonary arterial hypertension
10526	IPO8	HP:0033117	Duodenitis
10526	IPO8	HP:0002107	Pneumothorax
10526	IPO8	HP:0100490	Camptodactyly of finger
10526	IPO8	HP:0010511	Long toe
10526	IPO8	HP:0003577	Congenital onset
10526	IPO8	HP:0100718	Uterine rupture
10526	IPO8	HP:0002209	Sparse scalp hair
10526	IPO8	HP:0011968	Feeding difficulties
10526	IPO8	HP:0032061	Hypereosinophilia
10526	IPO8	HP:0001065	Striae distensae
10526	IPO8	HP:0001047	Atopic dermatitis
10526	IPO8	HP:0002376	Developmental regression
10526	IPO8	HP:0001007	Hirsutism
10526	IPO8	HP:0010809	Broad uvula
10526	IPO8	HP:0004970	Ascending tubular aorta aneurysm
10526	IPO8	HP:0004938	Tortuous cerebral arteries
10526	IPO8	HP:0004937	Pulmonary artery aneurysm
10526	IPO8	HP:0004944	Dilatation of the cerebral artery
10526	IPO8	HP:0004942	Aortic aneurysm
10526	IPO8	HP:0031869	Recurrent joint dislocation
10526	IPO8	HP:4000067	Iliac artery aneurysm
10526	IPO8	HP:0000639	Nystagmus
10526	IPO8	HP:0000637	Long palpebral fissure
10526	IPO8	HP:0000656	Ectropion
10526	IPO8	HP:0004322	Short stature
10526	IPO8	HP:0005692	Joint hyperflexibility
10526	IPO8	HP:0000767	Pectus excavatum
10526	IPO8	HP:0000768	Pectus carinatum
10526	IPO8	HP:0100310	Epidural hemorrhage
10526	IPO8	HP:0004459	Exostosis of the external auditory canal
10526	IPO8	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe
10526	IPO8	HP:0000821	Hypothyroidism
10526	IPO8	HP:0010297	Bifid tongue
10526	IPO8	HP:0011587	Abnormal branching pattern of the aortic arch
10526	IPO8	HP:0011595	Left aortic arch with retroesophageal right subclavian artery
10526	IPO8	HP:0003237	Increased circulating IgG level
10526	IPO8	HP:0003212	Increased circulating IgE level
10526	IPO8	HP:0003270	Abdominal distention
10526	IPO8	HP:0000978	Bruising susceptibility
10526	IPO8	HP:0000974	Hyperextensible skin
10526	IPO8	HP:0000973	Cutis laxa
10526	IPO8	HP:0000987	Atypical scarring of skin
10526	IPO8	HP:0000964	Eczema
10526	IPO8	HP:0000963	Thin skin
10526	IPO8	HP:0000278	Retrognathia
10526	IPO8	HP:0001596	Alopecia
10526	IPO8	HP:0000272	Malar flattening
10526	IPO8	HP:0000268	Dolichocephaly
10526	IPO8	HP:0005133	Right ventricular dilatation
10526	IPO8	HP:0005116	Arterial tortuosity
10526	IPO8	HP:0002827	Hip dislocation
10526	IPO8	HP:0002808	Kyphosis
10526	IPO8	HP:0000252	Microcephaly
10526	IPO8	HP:0000248	Brachycephaly
10526	IPO8	HP:0000218	High palate
10526	IPO8	HP:0001561	Polyhydramnios
10526	IPO8	HP:0002857	Genu valgum
10526	IPO8	HP:0001537	Umbilical hernia
10526	IPO8	HP:0000202	Orofacial cleft
10526	IPO8	HP:0001508	Failure to thrive
10526	IPO8	HP:0000378	Cupped ear
10526	IPO8	HP:0005231	Chronic gastritis
10526	IPO8	HP:0001695	Cardiac arrest
10526	IPO8	HP:0000358	Posteriorly rotated ears
10526	IPO8	HP:0011003	High myopia
10526	IPO8	HP:0000369	Low-set ears
10526	IPO8	HP:0001667	Right ventricular hypertrophy
10526	IPO8	HP:0000347	Micrognathia
10526	IPO8	HP:0000316	Hypertelorism
10526	IPO8	HP:0001643	Patent ductus arteriosus
10526	IPO8	HP:0001655	Patent foramen ovale
10526	IPO8	HP:0001629	Ventricular septal defect
10526	IPO8	HP:0000308	Microretrognathia
10526	IPO8	HP:0001631	Atrial septal defect
10526	IPO8	HP:0001634	Mitral valve prolapse
10526	IPO8	HP:0005302	Carotid artery tortuosity
10526	IPO8	HP:0006687	Aortic tortuosity
10526	IPO8	HP:0000400	Macrotia
10526	IPO8	HP:0001719	Double outlet right ventricle
10526	IPO8	HP:0005294	Arterial dissection
10526	IPO8	HP:0005280	Depressed nasal bridge
10526	IPO8	HP:0000490	Deeply set eye
10526	IPO8	HP:0012450	Chronic constipation
10526	IPO8	HP:0001763	Pes planus
10526	IPO8	HP:0001762	Talipes equinovarus
10526	IPO8	HP:0000426	Prominent nasal bridge
10526	IPO8	HP:0000520	Proptosis
10526	IPO8	HP:0001838	Rocker bottom foot
10526	IPO8	HP:0000508	Ptosis
10526	IPO8	HP:0000592	Blue sclerae
10526	IPO8	HP:0001892	Abnormal bleeding
10526	IPO8	HP:0000541	Retinal detachment
10528	NOP56	HP:0002495	Impaired vibratory sensation
10528	NOP56	HP:0001276	Hypertonia
10528	NOP56	HP:0001272	Cerebellar atrophy
10528	NOP56	HP:0001252	Hypotonia
10528	NOP56	HP:0001251	Ataxia
10528	NOP56	HP:0001260	Dysarthria
10528	NOP56	HP:0001347	Hyperreflexia
10528	NOP56	HP:0001324	Muscle weakness
10528	NOP56	HP:0000006	Autosomal dominant inheritance
10528	NOP56	HP:0001310	Dysmetria
10528	NOP56	HP:0001308	Tongue fasciculations
10528	NOP56	HP:0002607	Bowel incontinence
10528	NOP56	HP:0002015	Dysphagia
10528	NOP56	HP:0002080	Intention tremor
10528	NOP56	HP:0002066	Gait ataxia
10528	NOP56	HP:0002078	Truncal ataxia
10528	NOP56	HP:0002076	Migraine
10528	NOP56	HP:0002070	Limb ataxia
10528	NOP56	HP:0003487	Babinski sign
10528	NOP56	HP:0003445	EMG: neuropathic changes
10528	NOP56	HP:0007018	Attention deficit hyperactivity disorder
10528	NOP56	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
10528	NOP56	HP:0002380	Fasciculations
10528	NOP56	HP:0002378	Hand tremor
10528	NOP56	HP:0003676	Progressive
10528	NOP56	HP:0002355	Difficulty walking
10528	NOP56	HP:0002346	Head tremor
10528	NOP56	HP:0002321	Vertigo
10528	NOP56	HP:0002311	Incoordination
10528	NOP56	HP:0000639	Nystagmus
10528	NOP56	HP:0000651	Diplopia
10528	NOP56	HP:0000622	Blurred vision
10528	NOP56	HP:0003202	Skeletal muscle atrophy
10528	NOP56	HP:0045084	Limb myoclonus
10528	NOP56	HP:0007772	Impaired smooth pursuit
10528	NOP56	HP:0000365	Hearing impairment
10528	NOP56	HP:0012473	Tongue atrophy
10528	NOP56	HP:0000514	Slow saccadic eye movements
10528	NOP56	HP:0000511	Vertical supranuclear gaze palsy
10528	NOP56	HP:0000508	Ptosis
10531	PITRM1	HP:0001272	Cerebellar atrophy
10531	PITRM1	HP:0001256	Intellectual disability, mild
10531	PITRM1	HP:0001251	Ataxia
10531	PITRM1	HP:0001249	Intellectual disability
10531	PITRM1	HP:0001263	Global developmental delay
10531	PITRM1	HP:0001348	Brisk reflexes
10531	PITRM1	HP:0000007	Autosomal recessive inheritance
10531	PITRM1	HP:0001337	Tremor
10531	PITRM1	HP:0001310	Dysmetria
10531	PITRM1	HP:0025435	Increased circulating lactate dehydrogenase concentration
10531	PITRM1	HP:0002059	Cerebral atrophy
10531	PITRM1	HP:0002151	Increased serum lactate
10531	PITRM1	HP:0003593	Infantile onset
10531	PITRM1	HP:0003542	Increased serum pyruvate
10531	PITRM1	HP:0002317	Unsteady gait
10531	PITRM1	HP:0000725	Psychotic episodes
10531	PITRM1	HP:0011463	Childhood onset
10531	PITRM1	HP:0003236	Elevated circulating creatine kinase concentration
10531	PITRM1	HP:0030187	Titubation
10533	ATG7	HP:0008619	Bilateral sensorineural hearing impairment
10533	ATG7	HP:0003763	Bruxism
10533	ATG7	HP:0001298	Encephalopathy
10533	ATG7	HP:0001250	Seizure
10533	ATG7	HP:0001251	Ataxia
10533	ATG7	HP:0001266	Choreoathetosis
10533	ATG7	HP:0001260	Dysarthria
10533	ATG7	HP:0003819	Death in childhood
10533	ATG7	HP:0001332	Dystonia
10533	ATG7	HP:0001324	Muscle weakness
10533	ATG7	HP:0001344	Absent speech
10533	ATG7	HP:0000007	Autosomal recessive inheritance
10533	ATG7	HP:0001337	Tremor
10533	ATG7	HP:0001321	Cerebellar hypoplasia
10533	ATG7	HP:0008936	Axial hypotonia
10533	ATG7	HP:0002015	Dysphagia
10533	ATG7	HP:0004619	Lumbar kyphoscoliosis
10533	ATG7	HP:0002059	Cerebral atrophy
10533	ATG7	HP:0003593	Infantile onset
10533	ATG7	HP:0100753	Schizophrenia
10533	ATG7	HP:0011968	Feeding difficulties
10533	ATG7	HP:0100660	Dyskinesia
10533	ATG7	HP:0004209	Clinodactyly of the 5th finger
10533	ATG7	HP:0000648	Optic atrophy
10533	ATG7	HP:0034007	Posterior atrophy of corpus callosum
10533	ATG7	HP:0031936	Delayed ability to walk
10533	ATG7	HP:0000767	Pectus excavatum
10533	ATG7	HP:0000750	Delayed speech and language development
10533	ATG7	HP:0000742	Self-mutilation
10533	ATG7	HP:0000729	Autistic behavior
10533	ATG7	HP:0000278	Retrognathia
10533	ATG7	HP:0000276	Long face
10533	ATG7	HP:0000218	High palate
10533	ATG7	HP:0000212	Gingival overgrowth
10533	ATG7	HP:0001510	Growth delay
10533	ATG7	HP:0000319	Smooth philtrum
10533	ATG7	HP:0000486	Strabismus
10533	ATG7	HP:0000488	Retinopathy
10533	ATG7	HP:0001761	Pes cavus
10533	ATG7	HP:0000508	Ptosis
10533	ATG7	HP:0000544	External ophthalmoplegia
10535	RNASEH2A	HP:0007256	Abnormal pyramidal sign
10535	RNASEH2A	HP:0002415	Leukodystrophy
10535	RNASEH2A	HP:0001276	Hypertonia
10535	RNASEH2A	HP:0001272	Cerebellar atrophy
10535	RNASEH2A	HP:0001250	Seizure
10535	RNASEH2A	HP:0001263	Global developmental delay
10535	RNASEH2A	HP:0001257	Spasticity
10535	RNASEH2A	HP:0002514	Cerebral calcification
10535	RNASEH2A	HP:0002510	Spastic tetraplegia
10535	RNASEH2A	HP:0003819	Death in childhood
10535	RNASEH2A	HP:0001369	Arthritis
10535	RNASEH2A	HP:0000054	Micropenis
10535	RNASEH2A	HP:0001357	Plagiocephaly
10535	RNASEH2A	HP:0001332	Dystonia
10535	RNASEH2A	HP:0000007	Autosomal recessive inheritance
10535	RNASEH2A	HP:0001337	Tremor
10535	RNASEH2A	HP:0002650	Scoliosis
10535	RNASEH2A	HP:0008936	Axial hypotonia
10535	RNASEH2A	HP:0001433	Hepatosplenomegaly
10535	RNASEH2A	HP:0002093	Respiratory insufficiency
10535	RNASEH2A	HP:0002079	Hypoplasia of the corpus callosum
10535	RNASEH2A	HP:0002071	Abnormality of extrapyramidal motor function
10535	RNASEH2A	HP:0002059	Cerebral atrophy
10535	RNASEH2A	HP:0100578	Lipoatrophy
10535	RNASEH2A	HP:0002139	Arrhinencephaly
10535	RNASEH2A	HP:0002119	Ventriculomegaly
10535	RNASEH2A	HP:0002132	Porencephalic cyst
10535	RNASEH2A	HP:0002187	Intellectual disability, profound
10535	RNASEH2A	HP:0011834	Moyamoya phenomenon
10535	RNASEH2A	HP:0003593	Infantile onset
10535	RNASEH2A	HP:0002240	Hepatomegaly
10535	RNASEH2A	HP:0003552	Muscle stiffness
10535	RNASEH2A	HP:0200149	CSF lymphocytic pleiocytosis
10535	RNASEH2A	HP:0009709	Increased CSF interferon alpha
10535	RNASEH2A	HP:0009710	Chilblains
10535	RNASEH2A	HP:0009704	Chronic CSF lymphocytosis
10535	RNASEH2A	HP:0011968	Feeding difficulties
10535	RNASEH2A	HP:0004809	Neonatal alloimmune thrombocytopenia
10535	RNASEH2A	HP:0007076	Extrapyramidal muscular rigidity
10535	RNASEH2A	HP:0007052	Multifocal cerebral white matter abnormalities
10535	RNASEH2A	HP:0001063	Acrocyanosis
10535	RNASEH2A	HP:0002376	Developmental regression
10535	RNASEH2A	HP:0002371	Loss of speech
10535	RNASEH2A	HP:0002355	Difficulty walking
10535	RNASEH2A	HP:0002315	Headache
10535	RNASEH2A	HP:0002313	Spastic paraparesis
10535	RNASEH2A	HP:0100614	Myositis
10535	RNASEH2A	HP:0001087	Developmental glaucoma
10535	RNASEH2A	HP:0007108	Demyelinating peripheral neuropathy
10535	RNASEH2A	HP:0004963	Calcification of the aorta
10535	RNASEH2A	HP:0004942	Aortic aneurysm
10535	RNASEH2A	HP:0005550	Chronic lymphatic leukemia
10535	RNASEH2A	HP:0000639	Nystagmus
10535	RNASEH2A	HP:0001955	Unexplained fevers
10535	RNASEH2A	HP:0000625	Eyelid coloboma
10535	RNASEH2A	HP:0011344	Severe global developmental delay
10535	RNASEH2A	HP:0004322	Short stature
10535	RNASEH2A	HP:0004374	Hemiplegia/hemiparesis
10535	RNASEH2A	HP:0000737	Irritability
10535	RNASEH2A	HP:0000819	Diabetes mellitus
10535	RNASEH2A	HP:0000821	Hypothyroidism
10535	RNASEH2A	HP:0030880	Raynaud phenomenon
10535	RNASEH2A	HP:0000958	Dry skin
10535	RNASEH2A	HP:0000965	Cutis marmorata
10535	RNASEH2A	HP:0040140	Degeneration of the striatum
10535	RNASEH2A	HP:0002828	Multiple joint contractures
10535	RNASEH2A	HP:0000238	Hydrocephalus
10535	RNASEH2A	HP:0000253	Progressive microcephaly
10535	RNASEH2A	HP:0000252	Microcephaly
10535	RNASEH2A	HP:0030038	Enchondroma
10535	RNASEH2A	HP:0001511	Intrauterine growth retardation
10535	RNASEH2A	HP:0006579	Prolonged neonatal jaundice
10535	RNASEH2A	HP:0001609	Hoarse voice
10535	RNASEH2A	HP:0002910	Elevated hepatic transaminase
10535	RNASEH2A	HP:0000369	Low-set ears
10535	RNASEH2A	HP:0002960	Autoimmunity
10535	RNASEH2A	HP:0001640	Cardiomegaly
10535	RNASEH2A	HP:0001639	Hypertrophic cardiomyopathy
10535	RNASEH2A	HP:0012490	Panniculitis
10535	RNASEH2A	HP:0000496	Abnormality of eye movement
10535	RNASEH2A	HP:0012444	Brain atrophy
10535	RNASEH2A	HP:0000444	Convex nasal ridge
10535	RNASEH2A	HP:0001744	Splenomegaly
10535	RNASEH2A	HP:0000508	Ptosis
10535	RNASEH2A	HP:0000501	Glaucoma
10535	RNASEH2A	HP:0030356	Increased circulating interferon-gamma concentration
10535	RNASEH2A	HP:0001873	Thrombocytopenia
10535	RNASEH2A	HP:0001876	Pancytopenia
10555	AGPAT2	HP:0001176	Large hands
10555	AGPAT2	HP:0025128	Reduced intraabdominal adipose tissue
10555	AGPAT2	HP:0003758	Reduced subcutaneous adipose tissue
10555	AGPAT2	HP:0003716	Generalized muscular appearance from birth
10555	AGPAT2	HP:0003712	Skeletal muscle hypertrophy
10555	AGPAT2	HP:0001249	Intellectual disability
10555	AGPAT2	HP:0002591	Polyphagia
10555	AGPAT2	HP:0001263	Global developmental delay
10555	AGPAT2	HP:0008665	Clitoral hypertrophy
10555	AGPAT2	HP:0003809	Reduced intrathoracic adipose tissue
10555	AGPAT2	HP:0000098	Tall stature
10555	AGPAT2	HP:0012062	Bone cyst
10555	AGPAT2	HP:0001397	Hepatic steatosis
10555	AGPAT2	HP:0000065	Labial hypertrophy
10555	AGPAT2	HP:0001394	Cirrhosis
10555	AGPAT2	HP:0008887	Adipose tissue loss
10555	AGPAT2	HP:0000007	Autosomal recessive inheritance
10555	AGPAT2	HP:0000158	Macroglossia
10555	AGPAT2	HP:0000141	Amenorrhea
10555	AGPAT2	HP:0000147	Polycystic ovaries
10555	AGPAT2	HP:0010465	Precocious puberty in females
10555	AGPAT2	HP:0002155	Hypertriglyceridemia
10555	AGPAT2	HP:0002162	Low posterior hairline
10555	AGPAT2	HP:0003577	Congenital onset
10555	AGPAT2	HP:0002240	Hepatomegaly
10555	AGPAT2	HP:0001007	Hirsutism
10555	AGPAT2	HP:0001015	Prominent superficial veins
10555	AGPAT2	HP:0003623	Neonatal onset
10555	AGPAT2	HP:0001999	Abnormal facial shape
10555	AGPAT2	HP:0005616	Accelerated skeletal maturation
10555	AGPAT2	HP:0011407	Proportionate tall stature
10555	AGPAT2	HP:0011463	Childhood onset
10555	AGPAT2	HP:0009125	Lipodystrophy
10555	AGPAT2	HP:0000787	Nephrolithiasis
10555	AGPAT2	HP:0003124	Hypercholesterolemia
10555	AGPAT2	HP:0030796	Increased C-peptide level
10555	AGPAT2	HP:0000877	Insulin-resistant diabetes mellitus at puberty
10555	AGPAT2	HP:0000876	Oligomenorrhea
10555	AGPAT2	HP:0000855	Insulin resistance
10555	AGPAT2	HP:0000868	Decreased fertility in females
10555	AGPAT2	HP:0000842	Hyperinsulinemia
10555	AGPAT2	HP:0000819	Diabetes mellitus
10555	AGPAT2	HP:0003247	Overgrowth of external genitalia
10555	AGPAT2	HP:0003292	Decreased serum leptin
10555	AGPAT2	HP:0000998	Hypertrichosis
10555	AGPAT2	HP:0000956	Acanthosis nigricans
10555	AGPAT2	HP:0000294	Low anterior hairline
10555	AGPAT2	HP:0001544	Prominent umbilicus
10555	AGPAT2	HP:0001537	Umbilical hernia
10555	AGPAT2	HP:0001508	Failure to thrive
10555	AGPAT2	HP:0002833	Cystic angiomatosis of bone
10555	AGPAT2	HP:0002910	Elevated hepatic transaminase
10555	AGPAT2	HP:0000336	Prominent supraorbital ridges
10555	AGPAT2	HP:0000325	Triangular face
10555	AGPAT2	HP:0001639	Hypertrophic cardiomyopathy
10555	AGPAT2	HP:0001635	Congestive heart failure
10555	AGPAT2	HP:0001638	Cardiomyopathy
10555	AGPAT2	HP:0000303	Mandibular prognathia
10555	AGPAT2	HP:0001735	Acute pancreatitis
10555	AGPAT2	HP:0000400	Macrotia
10555	AGPAT2	HP:0001744	Splenomegaly
10555	AGPAT2	HP:0001833	Long foot
10558	SPTLC1	HP:0002483	Bulbar signs
10558	SPTLC1	HP:0002460	Distal muscle weakness
10558	SPTLC1	HP:0007267	Chronic axonal neuropathy
10558	SPTLC1	HP:0002425	Anarthria
10558	SPTLC1	HP:0003722	Neck flexor weakness
10558	SPTLC1	HP:0003701	Proximal muscle weakness
10558	SPTLC1	HP:0001276	Hypertonia
10558	SPTLC1	HP:0002599	Head titubation
10558	SPTLC1	HP:0001284	Areflexia
10558	SPTLC1	HP:0001251	Ataxia
10558	SPTLC1	HP:0001265	Hyporeflexia
10558	SPTLC1	HP:0001264	Spastic diplegia
10558	SPTLC1	HP:0001263	Global developmental delay
10558	SPTLC1	HP:0031060	Impaired ability to dress oneself
10558	SPTLC1	HP:0007354	Amyotrophic lateral sclerosis
10558	SPTLC1	HP:0002540	Inability to walk
10558	SPTLC1	HP:0002544	Retrocollis
10558	SPTLC1	HP:0002530	Axial dystonia
10558	SPTLC1	HP:0012048	Oromandibular dystonia
10558	SPTLC1	HP:0000020	Urinary incontinence
10558	SPTLC1	HP:0001348	Brisk reflexes
10558	SPTLC1	HP:0007550	Hypohidrosis or hyperhidrosis
10558	SPTLC1	HP:0006121	Acral ulceration
10558	SPTLC1	HP:0001332	Dystonia
10558	SPTLC1	HP:0001324	Muscle weakness
10558	SPTLC1	HP:0000006	Autosomal dominant inheritance
10558	SPTLC1	HP:0001308	Tongue fasciculations
10558	SPTLC1	HP:0002650	Scoliosis
10558	SPTLC1	HP:0001317	Abnormal cerebellum morphology
10558	SPTLC1	HP:0001300	Parkinsonism
10558	SPTLC1	HP:0002756	Pathologic fracture
10558	SPTLC1	HP:0002754	Osteomyelitis
10558	SPTLC1	HP:0002020	Gastroesophageal reflux
10558	SPTLC1	HP:0002015	Dysphagia
10558	SPTLC1	HP:0100543	Cognitive impairment
10558	SPTLC1	HP:0002061	Lower limb spasticity
10558	SPTLC1	HP:0002072	Chorea
10558	SPTLC1	HP:0003376	Steppage gait
10558	SPTLC1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
10558	SPTLC1	HP:0002141	Gait imbalance
10558	SPTLC1	HP:0003448	Decreased sensory nerve conduction velocity
10558	SPTLC1	HP:0003431	Decreased motor nerve conduction velocity
10558	SPTLC1	HP:0003429	CNS hypomyelination
10558	SPTLC1	HP:0003409	Distal sensory impairment of all modalities
10558	SPTLC1	HP:0002169	Clonus
10558	SPTLC1	HP:0002167	Abnormality of speech or vocalization
10558	SPTLC1	HP:0002179	Opisthotonus
10558	SPTLC1	HP:0002270	Abnormality of the autonomic nervous system
10558	SPTLC1	HP:0007021	Pain insensitivity
10558	SPTLC1	HP:0007002	Motor axonal neuropathy
10558	SPTLC1	HP:0007078	Decreased amplitude of sensory action potentials
10558	SPTLC1	HP:0001058	Poor wound healing
10558	SPTLC1	HP:0003693	Distal amyotrophy
10558	SPTLC1	HP:0002359	Frequent falls
10558	SPTLC1	HP:0001026	Penetrating foot ulcers
10558	SPTLC1	HP:0002378	Hand tremor
10558	SPTLC1	HP:0002355	Difficulty walking
10558	SPTLC1	HP:0010834	Trophic changes related to pain
10558	SPTLC1	HP:0010829	Impaired temperature sensation
10558	SPTLC1	HP:0200042	Skin ulcer
10558	SPTLC1	HP:0009763	Limb pain
10558	SPTLC1	HP:0006858	Impaired distal proprioception
10558	SPTLC1	HP:0000639	Nystagmus
10558	SPTLC1	HP:0000605	Supranuclear gaze palsy
10558	SPTLC1	HP:0009027	Foot dorsiflexor weakness
10558	SPTLC1	HP:0006986	Upper limb spasticity
10558	SPTLC1	HP:0004326	Cachexia
10558	SPTLC1	HP:0031960	Arm dystonia
10558	SPTLC1	HP:0006937	Impaired distal tactile sensation
10558	SPTLC1	HP:0031936	Delayed ability to walk
10558	SPTLC1	HP:0012735	Cough
10558	SPTLC1	HP:0000708	Atypical behavior
10558	SPTLC1	HP:0011471	Gastrostomy tube feeding in infancy
10558	SPTLC1	HP:0005750	Lower-limb joint contracture
10558	SPTLC1	HP:0100360	Upper-limb joint contracture
10558	SPTLC1	HP:0003202	Skeletal muscle atrophy
10558	SPTLC1	HP:0100287	EMG: slow motor conduction
10558	SPTLC1	HP:0000962	Hyperkeratosis
10558	SPTLC1	HP:0100295	Muscle fiber atrophy
10558	SPTLC1	HP:0002821	Neuropathic arthropathy
10558	SPTLC1	HP:0000252	Microcephaly
10558	SPTLC1	HP:0030051	Tip-toe gait
10558	SPTLC1	HP:0002936	Distal sensory impairment
10558	SPTLC1	HP:0000365	Hearing impairment
10558	SPTLC1	HP:0000407	Sensorineural hearing impairment
10558	SPTLC1	HP:0001761	Pes cavus
10558	SPTLC1	HP:0000518	Cataract
10558	SPTLC1	HP:0001886	Foot osteomyelitis
10558	SPTLC1	HP:0001868	Autoamputation of foot
10559	SLC35A1	HP:0002465	Poor speech
10559	SLC35A1	HP:0001298	Encephalopathy
10559	SLC35A1	HP:0001290	Generalized hypotonia
10559	SLC35A1	HP:0001250	Seizure
10559	SLC35A1	HP:0001251	Ataxia
10559	SLC35A1	HP:0001249	Intellectual disability
10559	SLC35A1	HP:0001265	Hyporeflexia
10559	SLC35A1	HP:0001260	Dysarthria
10559	SLC35A1	HP:0001263	Global developmental delay
10559	SLC35A1	HP:0000093	Proteinuria
10559	SLC35A1	HP:0031156	Decreased platelet glycoprotein Ib
10559	SLC35A1	HP:0000007	Autosomal recessive inheritance
10559	SLC35A1	HP:0012143	Abnormal megakaryocyte morphology
10559	SLC35A1	HP:0002718	Recurrent bacterial infections
10559	SLC35A1	HP:0003355	Aminoaciduria
10559	SLC35A1	HP:0002098	Respiratory distress
10559	SLC35A1	HP:0002090	Pneumonia
10559	SLC35A1	HP:0011883	Abnormal platelet granules
10559	SLC35A1	HP:0003593	Infantile onset
10559	SLC35A1	HP:0100658	Cellulitis
10559	SLC35A1	HP:0002310	Orofacial dyskinesia
10559	SLC35A1	HP:0000639	Nystagmus
10559	SLC35A1	HP:0001933	Subcutaneous hemorrhage
10559	SLC35A1	HP:0000601	Hypotelorism
10559	SLC35A1	HP:0001902	Giant platelets
10559	SLC35A1	HP:0003010	Prolonged bleeding time
10559	SLC35A1	HP:0040223	Pulmonary hemorrhage
10559	SLC35A1	HP:0040185	Macrothrombocytopenia
10559	SLC35A1	HP:0030084	Clinodactyly
10559	SLC35A1	HP:0000252	Microcephaly
10559	SLC35A1	HP:0001659	Aortic regurgitation
10559	SLC35A1	HP:0000322	Short philtrum
10559	SLC35A1	HP:0000490	Deeply set eye
10559	SLC35A1	HP:0000465	Webbed neck
10559	SLC35A1	HP:0012418	Hypoxemia
10559	SLC35A1	HP:0005469	Flat occiput
10559	SLC35A1	HP:0001892	Abnormal bleeding
10559	SLC35A1	HP:0001873	Thrombocytopenia
10559	SLC35A1	HP:0001875	Neutropenia
10560	SLC19A2	HP:0001297	Stroke
10560	SLC19A2	HP:0001254	Lethargy
10560	SLC19A2	HP:0001250	Seizure
10560	SLC19A2	HP:0001251	Ataxia
10560	SLC19A2	HP:0001263	Global developmental delay
10560	SLC19A2	HP:0000028	Cryptorchidism
10560	SLC19A2	HP:0000007	Autosomal recessive inheritance
10560	SLC19A2	HP:0003355	Aminoaciduria
10560	SLC19A2	HP:0002020	Gastroesophageal reflux
10560	SLC19A2	HP:0002014	Diarrhea
10560	SLC19A2	HP:0002039	Anorexia
10560	SLC19A2	HP:0003401	Paresthesia
10560	SLC19A2	HP:0004860	Thiamine-responsive megaloblastic anemia
10560	SLC19A2	HP:0002315	Headache
10560	SLC19A2	HP:0003621	Juvenile onset
10560	SLC19A2	HP:0000639	Nystagmus
10560	SLC19A2	HP:0000648	Optic atrophy
10560	SLC19A2	HP:0001924	Sideroblastic anemia
10560	SLC19A2	HP:0004322	Short stature
10560	SLC19A2	HP:0011463	Childhood onset
10560	SLC19A2	HP:0011462	Young adult onset
10560	SLC19A2	HP:0000819	Diabetes mellitus
10560	SLC19A2	HP:0000980	Pallor
10560	SLC19A2	HP:0000951	Abnormality of the skin
10560	SLC19A2	HP:0011675	Arrhythmia
10560	SLC19A2	HP:0001609	Hoarse voice
10560	SLC19A2	HP:0001696	Situs inversus totalis
10560	SLC19A2	HP:0001695	Cardiac arrest
10560	SLC19A2	HP:0001629	Ventricular septal defect
10560	SLC19A2	HP:0001635	Congestive heart failure
10560	SLC19A2	HP:0001638	Cardiomyopathy
10560	SLC19A2	HP:0001631	Atrial septal defect
10560	SLC19A2	HP:0006671	Paroxysmal atrial tachycardia
10560	SLC19A2	HP:0000407	Sensorineural hearing impairment
10560	SLC19A2	HP:0001889	Megaloblastic anemia
10560	SLC19A2	HP:0000556	Retinal dystrophy
10560	SLC19A2	HP:0000572	Visual loss
10560	SLC19A2	HP:0000546	Retinal degeneration
10560	SLC19A2	HP:0000548	Cone/cone-rod dystrophy
10560	SLC19A2	HP:0001873	Thrombocytopenia
10564	ARFGEF2	HP:0010864	Intellectual disability, severe
10564	ARFGEF2	HP:0001290	Generalized hypotonia
10564	ARFGEF2	HP:0001250	Seizure
10564	ARFGEF2	HP:0001252	Hypotonia
10564	ARFGEF2	HP:0001249	Intellectual disability
10564	ARFGEF2	HP:0001263	Global developmental delay
10564	ARFGEF2	HP:0032388	Periventricular nodular heterotopia
10564	ARFGEF2	HP:0007359	Focal-onset seizure
10564	ARFGEF2	HP:0002521	Hypsarrhythmia
10564	ARFGEF2	HP:0003834	Shoulder dislocation
10564	ARFGEF2	HP:0001382	Joint hypermobility
10564	ARFGEF2	HP:0000007	Autosomal recessive inheritance
10564	ARFGEF2	HP:0002650	Scoliosis
10564	ARFGEF2	HP:0002021	Pyloric stenosis
10564	ARFGEF2	HP:0002020	Gastroesophageal reflux
10564	ARFGEF2	HP:0002079	Hypoplasia of the corpus callosum
10564	ARFGEF2	HP:0003593	Infantile onset
10564	ARFGEF2	HP:0002273	Tetraparesis
10564	ARFGEF2	HP:0100790	Hernia
10564	ARFGEF2	HP:0007165	Periventricular heterotopia
10564	ARFGEF2	HP:0004942	Aortic aneurysm
10564	ARFGEF2	HP:0012639	Abnormal nervous system morphology
10564	ARFGEF2	HP:0000963	Thin skin
10564	ARFGEF2	HP:0000253	Progressive microcephaly
10564	ARFGEF2	HP:0000252	Microcephaly
10564	ARFGEF2	HP:0001508	Failure to thrive
10564	ARFGEF2	HP:0002999	Patellar dislocation
10564	ARFGEF2	HP:0001643	Patent ductus arteriosus
10564	ARFGEF2	HP:0001659	Aortic regurgitation
10564	ARFGEF2	HP:0001654	Abnormal heart valve morphology
10564	ARFGEF2	HP:0001892	Abnormal bleeding
10565	ARFGEF1	HP:0001263	Global developmental delay
10565	ARFGEF1	HP:0002521	Hypsarrhythmia
10565	ARFGEF1	HP:0001344	Absent speech
10565	ARFGEF1	HP:0000006	Autosomal dominant inheritance
10565	ARFGEF1	HP:0008936	Axial hypotonia
10565	ARFGEF1	HP:0002069	Bilateral tonic-clonic seizure
10565	ARFGEF1	HP:0003593	Infantile onset
10565	ARFGEF1	HP:0010841	Multifocal epileptiform discharges
10565	ARFGEF1	HP:0010819	Atonic seizure
10565	ARFGEF1	HP:0032792	Tonic seizure
10565	ARFGEF1	HP:0032794	Myoclonic seizure
10565	ARFGEF1	HP:0012469	Infantile spasms
10568	SLC34A2	HP:0025179	Ground-glass opacification
10568	SLC34A2	HP:0025178	Subpleural interstitial thickening
10568	SLC34A2	HP:0008703	Gonadal calcification
10568	SLC34A2	HP:0000007	Autosomal recessive inheritance
10568	SLC34A2	HP:0000144	Decreased fertility
10568	SLC34A2	HP:0002789	Tachypnea
10568	SLC34A2	HP:0031246	Nonproductive cough
10568	SLC34A2	HP:0100529	Abnormal blood phosphate concentration
10568	SLC34A2	HP:0002094	Dyspnea
10568	SLC34A2	HP:0002093	Respiratory insufficiency
10568	SLC34A2	HP:0002091	Restrictive ventilatory defect
10568	SLC34A2	HP:0003473	Fatigable weakness
10568	SLC34A2	HP:0002113	Pulmonary infiltrates
10568	SLC34A2	HP:0002110	Bronchiectasis
10568	SLC34A2	HP:0002107	Pneumothorax
10568	SLC34A2	HP:0002105	Hemoptysis
10568	SLC34A2	HP:0004724	Calcium nephrolithiasis
10568	SLC34A2	HP:0002240	Hepatomegaly
10568	SLC34A2	HP:0002206	Pulmonary fibrosis
10568	SLC34A2	HP:0032094	Increased circulating surfactant protein level
10568	SLC34A2	HP:0100749	Chest pain
10568	SLC34A2	HP:0100759	Clubbing of fingers
10568	SLC34A2	HP:0011947	Respiratory tract infection
10568	SLC34A2	HP:0003677	Slowly progressive
10568	SLC34A2	HP:0010766	Ectopic calcification
10568	SLC34A2	HP:0004963	Calcification of the aorta
10568	SLC34A2	HP:0003621	Juvenile onset
10568	SLC34A2	HP:0004241	Stippled calcification in carpal bones
10568	SLC34A2	HP:0001945	Fever
10568	SLC34A2	HP:0031944	Pleural thickening
10568	SLC34A2	HP:0004382	Mitral valve calcification
10568	SLC34A2	HP:0004363	Abnormal circulating calcium concentration
10568	SLC34A2	HP:0011463	Childhood onset
10568	SLC34A2	HP:0011462	Young adult onset
10568	SLC34A2	HP:0000790	Hematuria
10568	SLC34A2	HP:0030874	Oxygen desaturation on exertion
10568	SLC34A2	HP:0030879	Interlobular septal thickening
10568	SLC34A2	HP:0000961	Cyanosis
10568	SLC34A2	HP:0012215	Testicular microlithiasis
10568	SLC34A2	HP:0002878	Respiratory failure
10568	SLC34A2	HP:0002875	Exertional dyspnea
10568	SLC34A2	HP:0006514	Intraalveolar nodular calcifications
10568	SLC34A2	HP:0012398	Peripheral edema
10568	SLC34A2	HP:0012378	Fatigue
10568	SLC34A2	HP:0012387	Bronchitis
10568	SLC34A2	HP:0006520	Progressive pulmonary function impairment
10568	SLC34A2	HP:0005317	Increased pulmonary vascular resistance
10568	SLC34A2	HP:0001708	Right ventricular failure
10568	SLC34A2	HP:0012418	Hypoxemia
10568	SLC34A2	HP:0001824	Weight loss
10577	NPC2	HP:0001250	Seizure
10577	NPC2	HP:0001252	Hypotonia
10577	NPC2	HP:0001251	Ataxia
10577	NPC2	HP:0001249	Intellectual disability
10577	NPC2	HP:0001260	Dysarthria
10577	NPC2	HP:0001263	Global developmental delay
10577	NPC2	HP:0001257	Spasticity
10577	NPC2	HP:0002524	Cataplexy
10577	NPC2	HP:0003819	Death in childhood
10577	NPC2	HP:0001332	Dystonia
10577	NPC2	HP:0000007	Autosomal recessive inheritance
10577	NPC2	HP:0002643	Neonatal respiratory distress
10577	NPC2	HP:0003349	Low cholesterol esterification rate
10577	NPC2	HP:0002015	Dysphagia
10577	NPC2	HP:0002093	Respiratory insufficiency
10577	NPC2	HP:0002185	Neurofibrillary tangles
10577	NPC2	HP:0002240	Hepatomegaly
10577	NPC2	HP:0002206	Pulmonary fibrosis
10577	NPC2	HP:0002371	Loss of speech
10577	NPC2	HP:0003651	Foam cells
10577	NPC2	HP:0003623	Neonatal onset
10577	NPC2	HP:0003640	CNS foam cells
10577	NPC2	HP:0001982	Sea-blue histiocytosis
10577	NPC2	HP:0004333	Bone-marrow foam cells
10577	NPC2	HP:0000726	Dementia
10577	NPC2	HP:0000709	Psychosis
10577	NPC2	HP:0011463	Childhood onset
10577	NPC2	HP:0000952	Jaundice
10577	NPC2	HP:0002878	Respiratory failure
10577	NPC2	HP:0001561	Polyhydramnios
10577	NPC2	HP:0001522	Death in infancy
10577	NPC2	HP:0006579	Prolonged neonatal jaundice
10577	NPC2	HP:0001791	Fetal ascites
10577	NPC2	HP:0001744	Splenomegaly
10577	NPC2	HP:0000511	Vertical supranuclear gaze palsy
10584	COLEC10	HP:0001249	Intellectual disability
10584	COLEC10	HP:0001263	Global developmental delay
10584	COLEC10	HP:0002558	Supernumerary nipple
10584	COLEC10	HP:0008689	Bilateral cryptorchidism
10584	COLEC10	HP:0002553	Highly arched eyebrow
10584	COLEC10	HP:0000085	Horseshoe kidney
10584	COLEC10	HP:0000054	Micropenis
10584	COLEC10	HP:0000048	Bifid scrotum
10584	COLEC10	HP:0001363	Craniosynostosis
10584	COLEC10	HP:0000028	Cryptorchidism
10584	COLEC10	HP:0008897	Postnatal growth retardation
10584	COLEC10	HP:0000007	Autosomal recessive inheritance
10584	COLEC10	HP:0002650	Scoliosis
10584	COLEC10	HP:0000175	Cleft palate
10584	COLEC10	HP:0002714	Downturned corners of mouth
10584	COLEC10	HP:0002006	Facial cleft
10584	COLEC10	HP:0003307	Hyperlordosis
10584	COLEC10	HP:0002265	Large fleshy ears
10584	COLEC10	HP:0011968	Feeding difficulties
10584	COLEC10	HP:0004322	Short stature
10584	COLEC10	HP:0000808	Penoscrotal hypospadias
10584	COLEC10	HP:0040016	Prominent coccyx
10584	COLEC10	HP:0003298	Spina bifida occulta
10584	COLEC10	HP:0100258	Preaxial polydactyly
10584	COLEC10	HP:0000960	Sacral dimple
10584	COLEC10	HP:0005105	Abnormal nasal morphology
10584	COLEC10	HP:0002827	Hip dislocation
10584	COLEC10	HP:0002825	Caudal appendage
10584	COLEC10	HP:0030084	Clinodactyly
10584	COLEC10	HP:0006394	Limited pronation/supination of forearm
10584	COLEC10	HP:0001540	Diastasis recti
10584	COLEC10	HP:0030025	Auricular pit
10584	COLEC10	HP:0001537	Umbilical hernia
10584	COLEC10	HP:0000202	Orofacial cleft
10584	COLEC10	HP:0000204	Cleft upper lip
10584	COLEC10	HP:0001510	Growth delay
10584	COLEC10	HP:0000377	Abnormal pinna morphology
10584	COLEC10	HP:0000365	Hearing impairment
10584	COLEC10	HP:0000369	Low-set ears
10584	COLEC10	HP:0000316	Hypertelorism
10584	COLEC10	HP:0002974	Radioulnar synostosis
10584	COLEC10	HP:0007957	Corneal opacity
10584	COLEC10	HP:0000494	Downslanted palpebral fissures
10584	COLEC10	HP:0000506	Telecanthus
10584	COLEC10	HP:0000508	Ptosis
10584	COLEC10	HP:0000581	Blepharophimosis
10584	COLEC10	HP:0000593	Abnormal anterior chamber morphology
10584	COLEC10	HP:0000537	Epicanthus inversus
10585	POMT1	HP:0002465	Poor speech
10585	POMT1	HP:0003797	Limb-girdle muscle atrophy
10585	POMT1	HP:0002438	Cerebellar malformation
10585	POMT1	HP:0002435	Meningocele
10585	POMT1	HP:0001105	Retinal atrophy
10585	POMT1	HP:0007260	Type II lissencephaly
10585	POMT1	HP:0007256	Abnormal pyramidal sign
10585	POMT1	HP:0010864	Intellectual disability, severe
10585	POMT1	HP:0008551	Microtia
10585	POMT1	HP:0007227	Macrogyria
10585	POMT1	HP:0003741	Congenital muscular dystrophy
10585	POMT1	HP:0003733	Thigh hypertrophy
10585	POMT1	HP:0003707	Calf muscle pseudohypertrophy
10585	POMT1	HP:0003701	Proximal muscle weakness
10585	POMT1	HP:0003700	Generalized amyotrophy
10585	POMT1	HP:0003712	Skeletal muscle hypertrophy
10585	POMT1	HP:0007291	Posterior fossa cyst
10585	POMT1	HP:0001290	Generalized hypotonia
10585	POMT1	HP:0001276	Hypertonia
10585	POMT1	HP:0001272	Cerebellar atrophy
10585	POMT1	HP:0001274	Agenesis of corpus callosum
10585	POMT1	HP:0001270	Motor delay
10585	POMT1	HP:0001288	Gait disturbance
10585	POMT1	HP:0001284	Areflexia
10585	POMT1	HP:0001256	Intellectual disability, mild
10585	POMT1	HP:0001250	Seizure
10585	POMT1	HP:0001252	Hypotonia
10585	POMT1	HP:0001249	Intellectual disability
10585	POMT1	HP:0001265	Hyporeflexia
10585	POMT1	HP:0001263	Global developmental delay
10585	POMT1	HP:0001262	Excessive daytime somnolence
10585	POMT1	HP:0008736	Hypoplasia of penis
10585	POMT1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
10585	POMT1	HP:0007361	Abnormal pons morphology
10585	POMT1	HP:0002540	Inability to walk
10585	POMT1	HP:0002536	Abnormal cortical gyration
10585	POMT1	HP:0002518	Abnormal periventricular white matter morphology
10585	POMT1	HP:0002515	Waddling gait
10585	POMT1	HP:0003828	Variable expressivity
10585	POMT1	HP:0002505	Loss of ambulation
10585	POMT1	HP:0002500	Abnormal cerebral white matter morphology
10585	POMT1	HP:0003803	Type 1 muscle fiber predominance
10585	POMT1	HP:0001371	Flexion contracture
10585	POMT1	HP:0000054	Micropenis
10585	POMT1	HP:0000050	Hypoplastic male external genitalia
10585	POMT1	HP:0001349	Facial diplegia
10585	POMT1	HP:0001347	Hyperreflexia
10585	POMT1	HP:0001360	Holoprosencephaly
10585	POMT1	HP:0000028	Cryptorchidism
10585	POMT1	HP:0008872	Feeding difficulties in infancy
10585	POMT1	HP:0001331	Absent septum pellucidum
10585	POMT1	HP:0001328	Specific learning disability
10585	POMT1	HP:0001324	Muscle weakness
10585	POMT1	HP:0001344	Absent speech
10585	POMT1	HP:0001339	Lissencephaly
10585	POMT1	HP:0000007	Autosomal recessive inheritance
10585	POMT1	HP:0001305	Dandy-Walker malformation
10585	POMT1	HP:0001302	Pachygyria
10585	POMT1	HP:0001320	Cerebellar vermis hypoplasia
10585	POMT1	HP:0002650	Scoliosis
10585	POMT1	HP:0001321	Cerebellar hypoplasia
10585	POMT1	HP:0001317	Abnormal cerebellum morphology
10585	POMT1	HP:0001319	Neonatal hypotonia
10585	POMT1	HP:0001315	Reduced tendon reflexes
10585	POMT1	HP:0031108	Triceps weakness
10585	POMT1	HP:0000193	Bifid uvula
10585	POMT1	HP:0000158	Macroglossia
10585	POMT1	HP:0000176	Submucous cleft hard palate
10585	POMT1	HP:0000175	Cleft palate
10585	POMT1	HP:0008981	Calf muscle hypertrophy
10585	POMT1	HP:0008947	Infantile muscular hypotonia
10585	POMT1	HP:0012110	Hypoplasia of the pons
10585	POMT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
10585	POMT1	HP:0000110	Renal dysplasia
10585	POMT1	HP:0002751	Kyphoscoliosis
10585	POMT1	HP:0002023	Anal atresia
10585	POMT1	HP:0002027	Abdominal pain
10585	POMT1	HP:0003327	Axial muscle weakness
10585	POMT1	HP:0003325	Limb-girdle muscle weakness
10585	POMT1	HP:0003326	Myalgia
10585	POMT1	HP:0004637	Decreased cervical spine mobility
10585	POMT1	HP:0003306	Spinal rigidity
10585	POMT1	HP:0003324	Generalized muscle weakness
10585	POMT1	HP:0002085	Occipital encephalocele
10585	POMT1	HP:0100543	Cognitive impairment
10585	POMT1	HP:0002098	Respiratory distress
10585	POMT1	HP:0002094	Dyspnea
10585	POMT1	HP:0002093	Respiratory insufficiency
10585	POMT1	HP:0003394	Muscle spasm
10585	POMT1	HP:0003391	Gowers sign
10585	POMT1	HP:0002079	Hypoplasia of the corpus callosum
10585	POMT1	HP:0003388	Easy fatigability
10585	POMT1	HP:0008180	Mildly elevated creatine kinase
10585	POMT1	HP:0002120	Cerebral cortical atrophy
10585	POMT1	HP:0002119	Ventriculomegaly
10585	POMT1	HP:0003457	EMG abnormality
10585	POMT1	HP:0002126	Polymicrogyria
10585	POMT1	HP:0003458	EMG: myopathic abnormalities
10585	POMT1	HP:0002187	Intellectual disability, profound
10585	POMT1	HP:0002198	Dilated fourth ventricle
10585	POMT1	HP:0002169	Clonus
10585	POMT1	HP:0002167	Abnormality of speech or vocalization
10585	POMT1	HP:0010508	Metatarsus valgus
10585	POMT1	HP:0003593	Infantile onset
10585	POMT1	HP:0002269	Abnormality of neuronal migration
10585	POMT1	HP:0003577	Congenital onset
10585	POMT1	HP:0003551	Difficulty climbing stairs
10585	POMT1	HP:0003549	Abnormality of connective tissue
10585	POMT1	HP:0003560	Muscular dystrophy
10585	POMT1	HP:0003557	Increased variability in muscle fiber diameter
10585	POMT1	HP:0002282	Gray matter heterotopia
10585	POMT1	HP:0002280	Enlarged cisterna magna
10585	POMT1	HP:0007033	Cerebellar dysplasia
10585	POMT1	HP:0007015	Poor gross motor coordination
10585	POMT1	HP:0011968	Feeding difficulties
10585	POMT1	HP:0032046	Focal cortical dysplasia
10585	POMT1	HP:0010628	Facial palsy
10585	POMT1	HP:0002365	Hypoplasia of the brainstem
10585	POMT1	HP:0002363	Abnormal brainstem morphology
10585	POMT1	HP:0002359	Frequent falls
10585	POMT1	HP:0002355	Difficulty walking
10585	POMT1	HP:0003687	Centrally nucleated skeletal muscle fibers
10585	POMT1	HP:0002353	EEG abnormality
10585	POMT1	HP:0002350	Cerebellar cyst
10585	POMT1	HP:0003677	Slowly progressive
10585	POMT1	HP:0002334	Abnormal cerebellar vermis morphology
10585	POMT1	HP:0007204	Diffuse white matter abnormalities
10585	POMT1	HP:0010794	Impaired visuospatial constructive cognition
10585	POMT1	HP:0007126	Proximal amyotrophy
10585	POMT1	HP:0008443	Neuropathic spinal arthropathy
10585	POMT1	HP:0006829	Severe muscular hypotonia
10585	POMT1	HP:0031882	Agyria
10585	POMT1	HP:0006899	Fusion of the cerebellar hemispheres
10585	POMT1	HP:0006888	Meningoencephalocele
10585	POMT1	HP:0000648	Optic atrophy
10585	POMT1	HP:0000618	Blindness
10585	POMT1	HP:0000612	Iris coloboma
10585	POMT1	HP:0000609	Optic nerve hypoplasia
10585	POMT1	HP:0012695	Decreased thalamic volume
10585	POMT1	HP:0000659	Peters anomaly
10585	POMT1	HP:0006955	Olivopontocerebellar hypoplasia
10585	POMT1	HP:0004374	Hemiplegia/hemiparesis
10585	POMT1	HP:0012735	Cough
10585	POMT1	HP:0100022	Abnormality of movement
10585	POMT1	HP:0000750	Delayed speech and language development
10585	POMT1	HP:0000729	Autistic behavior
10585	POMT1	HP:0000707	Abnormality of the nervous system
10585	POMT1	HP:0012793	Kinked brainstem
10585	POMT1	HP:0003198	Myopathy
10585	POMT1	HP:0040081	Abnormal circulating creatine kinase concentration
10585	POMT1	HP:0003236	Elevated circulating creatine kinase concentration
10585	POMT1	HP:0003202	Skeletal muscle atrophy
10585	POMT1	HP:0045040	Abnormal lactate dehydrogenase level
10585	POMT1	HP:0040173	Abnormality of the tongue muscle
10585	POMT1	HP:0000298	Mask-like facies
10585	POMT1	HP:0000256	Macrocephaly
10585	POMT1	HP:0007731	Chorioretinal dysplasia
10585	POMT1	HP:0002827	Hip dislocation
10585	POMT1	HP:0002828	Multiple joint contractures
10585	POMT1	HP:0002803	Congenital contracture
10585	POMT1	HP:0030099	Reduced muscle fiber alpha dystroglycan
10585	POMT1	HP:0000238	Hydrocephalus
10585	POMT1	HP:0000252	Microcephaly
10585	POMT1	HP:0002878	Respiratory failure
10585	POMT1	HP:0000204	Cleft upper lip
10585	POMT1	HP:0030046	Hypoglycosylation of alpha-dystroglycan
10585	POMT1	HP:0030051	Tip-toe gait
10585	POMT1	HP:0001608	Abnormality of the voice
10585	POMT1	HP:0002938	Lumbar hyperlordosis
10585	POMT1	HP:0030197	Fatigable weakness of skeletal muscles
10585	POMT1	HP:0005162	Abnormal left ventricular function
10585	POMT1	HP:0000358	Posteriorly rotated ears
10585	POMT1	HP:0000369	Low-set ears
10585	POMT1	HP:0000340	Sloping forehead
10585	POMT1	HP:0000347	Micrognathia
10585	POMT1	HP:0001638	Cardiomyopathy
10585	POMT1	HP:0007957	Corneal opacity
10585	POMT1	HP:0007973	Retinal dysplasia
10585	POMT1	HP:0001712	Left ventricular hypertrophy
10585	POMT1	HP:0000486	Strabismus
10585	POMT1	HP:0000485	Megalocornea
10585	POMT1	HP:0000482	Microcornea
10585	POMT1	HP:0000478	Abnormality of the eye
10585	POMT1	HP:0012443	Abnormality of brain morphology
10585	POMT1	HP:0001771	Achilles tendon contracture
10585	POMT1	HP:0012400	Abnormal circulating aldolase concentration
10585	POMT1	HP:0000411	Protruding ear
10585	POMT1	HP:0000413	Atresia of the external auditory canal
10585	POMT1	HP:0000518	Cataract
10585	POMT1	HP:0000519	Developmental cataract
10585	POMT1	HP:0000528	Anophthalmia
10585	POMT1	HP:0000525	Abnormality iris morphology
10585	POMT1	HP:0000505	Visual impairment
10585	POMT1	HP:0000501	Glaucoma
10585	POMT1	HP:0000580	Pigmentary retinopathy
10585	POMT1	HP:0000587	Abnormal optic nerve morphology
10585	POMT1	HP:0000589	Coloboma
10585	POMT1	HP:0012548	Fatty replacement of skeletal muscle
10585	POMT1	HP:0000557	Buphthalmos
10585	POMT1	HP:0000556	Retinal dystrophy
10585	POMT1	HP:0000568	Microphthalmia
10585	POMT1	HP:0000541	Retinal detachment
10585	POMT1	HP:0000545	Myopia
10586	MAB21L2	HP:0001126	Cryptophthalmos
10586	MAB21L2	HP:0009918	Ectopia pupillae
10586	MAB21L2	HP:0006097	3-4 finger syndactyly
10586	MAB21L2	HP:0000047	Hypospadias
10586	MAB21L2	HP:0000007	Autosomal recessive inheritance
10586	MAB21L2	HP:0000006	Autosomal dominant inheritance
10586	MAB21L2	HP:0008905	Rhizomelia
10586	MAB21L2	HP:0005001	Recurrent patellar dislocation
10586	MAB21L2	HP:0004691	2-3 toe syndactyly
10586	MAB21L2	HP:0003577	Congenital onset
10586	MAB21L2	HP:0002342	Intellectual disability, moderate
10586	MAB21L2	HP:0000639	Nystagmus
10586	MAB21L2	HP:0000647	Sclerocornea
10586	MAB21L2	HP:0000629	Periorbital fullness
10586	MAB21L2	HP:0000826	Precocious puberty
10586	MAB21L2	HP:0000286	Epicanthus
10586	MAB21L2	HP:0000256	Macrocephaly
10586	MAB21L2	HP:0000343	Long philtrum
10586	MAB21L2	HP:0000486	Strabismus
10586	MAB21L2	HP:0000482	Microcornea
10586	MAB21L2	HP:0001763	Pes planus
10586	MAB21L2	HP:0000518	Cataract
10586	MAB21L2	HP:0000528	Anophthalmia
10586	MAB21L2	HP:0000527	Long eyelashes
10586	MAB21L2	HP:0000589	Coloboma
10586	MAB21L2	HP:0011220	Prominent forehead
10586	MAB21L2	HP:0000568	Microphthalmia
10587	TXNRD2	HP:0002445	Tetraplegia
10587	TXNRD2	HP:0001249	Intellectual disability
10587	TXNRD2	HP:0002574	Episodic abdominal pain
10587	TXNRD2	HP:0007440	Generalized hyperpigmentation
10587	TXNRD2	HP:0031074	Abnormal response to ACTH stimulation test
10587	TXNRD2	HP:0031076	Impaired cortisol response to insulin stimulation test
10587	TXNRD2	HP:0000098	Tall stature
10587	TXNRD2	HP:0000028	Cryptorchidism
10587	TXNRD2	HP:0000027	Azoospermia
10587	TXNRD2	HP:0001325	Hypoglycemic coma
10587	TXNRD2	HP:0000010	Recurrent urinary tract infections
10587	TXNRD2	HP:0000007	Autosomal recessive inheritance
10587	TXNRD2	HP:0002615	Hypotension
10587	TXNRD2	HP:0025451	Testicular adrenal rest tumor
10587	TXNRD2	HP:0000127	Renal salt wasting
10587	TXNRD2	HP:0031214	Decreased circulating dehydroepiandrosterone concentration
10587	TXNRD2	HP:0002719	Recurrent infections
10587	TXNRD2	HP:0002019	Constipation
10587	TXNRD2	HP:0002014	Diarrhea
10587	TXNRD2	HP:0002013	Vomiting
10587	TXNRD2	HP:0002039	Anorexia
10587	TXNRD2	HP:0100578	Lipoatrophy
10587	TXNRD2	HP:0008163	Decreased circulating cortisol level
10587	TXNRD2	HP:0002153	Hyperkalemia
10587	TXNRD2	HP:0003457	EMG abnormality
10587	TXNRD2	HP:0002173	Hypoglycemic seizures
10587	TXNRD2	HP:0100618	Leydig cell neoplasia
10587	TXNRD2	HP:0012605	Hypernatriuria
10587	TXNRD2	HP:0004319	Decreased circulating aldosterone level
10587	TXNRD2	HP:0012734	Ketotic hypoglycemia
10587	TXNRD2	HP:0003198	Myopathy
10587	TXNRD2	HP:0000851	Congenital hypothyroidism
10587	TXNRD2	HP:0000846	Adrenal insufficiency
10587	TXNRD2	HP:0000826	Precocious puberty
10587	TXNRD2	HP:0003236	Elevated circulating creatine kinase concentration
10587	TXNRD2	HP:0000982	Palmoplantar keratoderma
10587	TXNRD2	HP:0000953	Hyperpigmentation of the skin
10587	TXNRD2	HP:0001508	Failure to thrive
10587	TXNRD2	HP:0011043	Abnormal circulating adrenocorticotropin concentration
10587	TXNRD2	HP:0002902	Hyponatremia
10587	TXNRD2	HP:0001644	Dilated cardiomyopathy
10587	TXNRD2	HP:0002960	Autoimmunity
10587	TXNRD2	HP:0001639	Hypertrophic cardiomyopathy
10587	TXNRD2	HP:0000407	Sensorineural hearing impairment
10587	TXNRD2	HP:0012432	Chronic fatigue
10587	TXNRD2	HP:0001824	Weight loss
10587	TXNRD2	HP:0001874	Abnormality of neutrophils
10588	MTHFS	HP:0002465	Poor speech
10588	MTHFS	HP:0001272	Cerebellar atrophy
10588	MTHFS	HP:0001250	Seizure
10588	MTHFS	HP:0001263	Global developmental delay
10588	MTHFS	HP:0001257	Spasticity
10588	MTHFS	HP:0000007	Autosomal recessive inheritance
10588	MTHFS	HP:0002119	Ventriculomegaly
10588	MTHFS	HP:0003429	CNS hypomyelination
10588	MTHFS	HP:0002267	Exaggerated startle response
10588	MTHFS	HP:0100704	Cerebral visual impairment
10588	MTHFS	HP:0011968	Feeding difficulties
10588	MTHFS	HP:0004322	Short stature
10588	MTHFS	HP:0000252	Microcephaly
10588	MTHFS	HP:0012448	Delayed myelination
10594	PRPF8	HP:0001133	Constriction of peripheral visual field
10594	PRPF8	HP:0001249	Intellectual disability
10594	PRPF8	HP:0008736	Hypoplasia of penis
10594	PRPF8	HP:0003829	Typified by incomplete penetrance
10594	PRPF8	HP:0001347	Hyperreflexia
10594	PRPF8	HP:0000035	Abnormal testis morphology
10594	PRPF8	HP:0000006	Autosomal dominant inheritance
10594	PRPF8	HP:0000135	Hypogonadism
10594	PRPF8	HP:0007675	Progressive night blindness
10594	PRPF8	HP:0005978	Type II diabetes mellitus
10594	PRPF8	HP:0003621	Juvenile onset
10594	PRPF8	HP:0000639	Nystagmus
10594	PRPF8	HP:0000648	Optic atrophy
10594	PRPF8	HP:0000618	Blindness
10594	PRPF8	HP:0000613	Photophobia
10594	PRPF8	HP:0000602	Ophthalmoplegia
10594	PRPF8	HP:0000662	Nyctalopia
10594	PRPF8	HP:0030629	Perifoveal ring of hyperautofluorescence
10594	PRPF8	HP:0030672	Asteroid hyalosis
10594	PRPF8	HP:0011463	Childhood onset
10594	PRPF8	HP:0011462	Young adult onset
10594	PRPF8	HP:0011505	Cystoid macular edema
10594	PRPF8	HP:0000842	Hyperinsulinemia
10594	PRPF8	HP:0000987	Atypical scarring of skin
10594	PRPF8	HP:0008046	Abnormal retinal vascular morphology
10594	PRPF8	HP:0007703	Abnormality of retinal pigmentation
10594	PRPF8	HP:0007737	Bone spicule pigmentation of the retina
10594	PRPF8	HP:0001513	Obesity
10594	PRPF8	HP:0007843	Attenuation of retinal blood vessels
10594	PRPF8	HP:0000407	Sensorineural hearing impairment
10594	PRPF8	HP:0000405	Conductive hearing impairment
10594	PRPF8	HP:0000463	Anteverted nares
10594	PRPF8	HP:0012426	Optic disc drusen
10594	PRPF8	HP:0000431	Wide nasal bridge
10594	PRPF8	HP:0000518	Cataract
10594	PRPF8	HP:0000510	Rod-cone dystrophy
10594	PRPF8	HP:0000512	Abnormal electroretinogram
10594	PRPF8	HP:0000523	Subcapsular cataract
10594	PRPF8	HP:0000505	Visual impairment
10594	PRPF8	HP:0000501	Glaucoma
10594	PRPF8	HP:0000563	Keratoconus
10594	PRPF8	HP:0000546	Retinal degeneration
10599	SLCO1B1	HP:0010984	Digenic inheritance
10599	SLCO1B1	HP:0031137	Storage in hepatocytes
10599	SLCO1B1	HP:0010473	Porphyrinuria
10599	SLCO1B1	HP:0001046	Intermittent jaundice
10599	SLCO1B1	HP:0001000	Abnormality of skin pigmentation
10599	SLCO1B1	HP:0032106	Conjunctival icterus
10599	SLCO1B1	HP:0031811	Bilirubinuria
10599	SLCO1B1	HP:0000924	Abnormality of the skeletal system
10599	SLCO1B1	HP:0000989	Pruritus
10599	SLCO1B1	HP:0000952	Jaundice
10599	SLCO1B1	HP:0012379	Abnormal circulating enzyme concentration or activity
10599	SLCO1B1	HP:0002908	Conjugated hyperbilirubinemia
10599	SLCO1B1	HP:0002904	Hyperbilirubinemia
10606	PAICS	HP:0002575	Tracheoesophageal fistula
10606	PAICS	HP:0008743	Coronal hypospadias
10606	PAICS	HP:0008689	Bilateral cryptorchidism
10606	PAICS	HP:0003811	Neonatal death
10606	PAICS	HP:0000007	Autosomal recessive inheritance
10606	PAICS	HP:0002032	Esophageal atresia
10606	PAICS	HP:0008439	Lumbar hemivertebrae
10606	PAICS	HP:0004209	Clinodactyly of the 5th finger
10606	PAICS	HP:0004322	Short stature
10606	PAICS	HP:0011461	Fetal onset
10606	PAICS	HP:0003196	Short nose
10606	PAICS	HP:0000921	Missing ribs
10606	PAICS	HP:0004502	Bilateral choanal atresia
10606	PAICS	HP:0000248	Brachycephaly
10606	PAICS	HP:0001561	Polyhydramnios
10606	PAICS	HP:0012368	Flat face
10606	PAICS	HP:0000369	Low-set ears
10606	PAICS	HP:0000316	Hypertelorism
10606	PAICS	HP:0005280	Depressed nasal bridge
10606	PAICS	HP:0000463	Anteverted nares
10606	PAICS	HP:0000470	Short neck
10606	PAICS	HP:0000453	Choanal atresia
10606	PAICS	HP:0000452	Choanal stenosis
10606	PAICS	HP:0001762	Talipes equinovarus
10613	ERLIN1	HP:0001284	Areflexia
10613	ERLIN1	HP:0001260	Dysarthria
10613	ERLIN1	HP:0001257	Spasticity
10613	ERLIN1	HP:0001347	Hyperreflexia
10613	ERLIN1	HP:0000007	Autosomal recessive inheritance
10613	ERLIN1	HP:0001317	Abnormal cerebellum morphology
10613	ERLIN1	HP:0002064	Spastic gait
10613	ERLIN1	HP:0002061	Lower limb spasticity
10613	ERLIN1	HP:0003487	Babinski sign
10613	ERLIN1	HP:0002169	Clonus
10613	ERLIN1	HP:0002380	Fasciculations
10613	ERLIN1	HP:0003676	Progressive
10613	ERLIN1	HP:0002355	Difficulty walking
10613	ERLIN1	HP:0006844	Absent patellar reflexes
10613	ERLIN1	HP:0003202	Skeletal muscle atrophy
10613	ERLIN1	HP:0006380	Knee flexion contracture
10613	ERLIN1	HP:0030051	Tip-toe gait
10613	ERLIN1	HP:0002943	Thoracic scoliosis
10613	ERLIN1	HP:0012514	Lower limb pain
10616	RBCK1	HP:0003701	Proximal muscle weakness
10616	RBCK1	HP:0001250	Seizure
10616	RBCK1	HP:0002573	Hematochezia
10616	RBCK1	HP:0001396	Cholestasis
10616	RBCK1	HP:0001395	Hepatic fibrosis
10616	RBCK1	HP:0000076	Vesicoureteral reflux
10616	RBCK1	HP:0001324	Muscle weakness
10616	RBCK1	HP:0000007	Autosomal recessive inheritance
10616	RBCK1	HP:0002650	Scoliosis
10616	RBCK1	HP:0032435	Neonatal omphalitis
10616	RBCK1	HP:0002718	Recurrent bacterial infections
10616	RBCK1	HP:0002716	Lymphadenopathy
10616	RBCK1	HP:0002721	Immunodeficiency
10616	RBCK1	HP:0002037	Inflammation of the large intestine
10616	RBCK1	HP:0002027	Abdominal pain
10616	RBCK1	HP:0002028	Chronic diarrhea
10616	RBCK1	HP:0003326	Myalgia
10616	RBCK1	HP:0003593	Infantile onset
10616	RBCK1	HP:0002240	Hepatomegaly
10616	RBCK1	HP:0008404	Nail dystrophy
10616	RBCK1	HP:0003676	Progressive
10616	RBCK1	HP:0001019	Erythroderma
10616	RBCK1	HP:0003623	Neonatal onset
10616	RBCK1	HP:0001974	Leukocytosis
10616	RBCK1	HP:0001942	Metabolic acidosis
10616	RBCK1	HP:0001954	Recurrent fever
10616	RBCK1	HP:0001903	Anemia
10616	RBCK1	HP:0003075	Hypoproteinemia
10616	RBCK1	HP:0003236	Elevated circulating creatine kinase concentration
10616	RBCK1	HP:0003202	Skeletal muscle atrophy
10616	RBCK1	HP:0000964	Eczema
10616	RBCK1	HP:0000963	Thin skin
10616	RBCK1	HP:0002840	Lymphadenitis
10616	RBCK1	HP:0001508	Failure to thrive
10616	RBCK1	HP:0001510	Growth delay
10616	RBCK1	HP:0002910	Elevated hepatic transaminase
10616	RBCK1	HP:0001644	Dilated cardiomyopathy
10616	RBCK1	HP:0001635	Congestive heart failure
10616	RBCK1	HP:0001638	Cardiomyopathy
10616	RBCK1	HP:0001744	Splenomegaly
10616	RBCK1	HP:0000508	Ptosis
10617	STAMBP	HP:0001156	Brachydactyly
10617	STAMBP	HP:0009882	Short distal phalanx of finger
10617	STAMBP	HP:0001290	Generalized hypotonia
10617	STAMBP	HP:0001285	Spastic tetraparesis
10617	STAMBP	HP:0001250	Seizure
10617	STAMBP	HP:0001252	Hypotonia
10617	STAMBP	HP:0000076	Vesicoureteral reflux
10617	STAMBP	HP:0000007	Autosomal recessive inheritance
10617	STAMBP	HP:0001336	Myoclonus
10617	STAMBP	HP:0000175	Cleft palate
10617	STAMBP	HP:0002079	Hypoplasia of the corpus callosum
10617	STAMBP	HP:0002059	Cerebral atrophy
10617	STAMBP	HP:0003577	Congenital onset
10617	STAMBP	HP:0010721	Abnormal hair whorl
10617	STAMBP	HP:0000648	Optic atrophy
10617	STAMBP	HP:0011344	Severe global developmental delay
10617	STAMBP	HP:0004322	Short stature
10617	STAMBP	HP:0003196	Short nose
10617	STAMBP	HP:0030084	Clinodactyly
10617	STAMBP	HP:0000253	Progressive microcephaly
10617	STAMBP	HP:0001508	Failure to thrive
10617	STAMBP	HP:0001518	Small for gestational age
10617	STAMBP	HP:0000365	Hearing impairment
10617	STAMBP	HP:0000369	Low-set ears
10617	STAMBP	HP:0000340	Sloping forehead
10617	STAMBP	HP:0001667	Right ventricular hypertrophy
10617	STAMBP	HP:0000316	Hypertelorism
10617	STAMBP	HP:0000327	Hypoplasia of the maxilla
10617	STAMBP	HP:0001655	Patent foramen ovale
10617	STAMBP	HP:0001629	Ventricular septal defect
10617	STAMBP	HP:0001631	Atrial septal defect
10617	STAMBP	HP:0001792	Small nail
10617	STAMBP	HP:0012448	Delayed myelination
10617	STAMBP	HP:0000445	Wide nose
10617	STAMBP	HP:0000508	Ptosis
10621	POLR3F	HP:0000006	Autosomal dominant inheritance
10621	POLR3F	HP:0034319	CNS vasculitis with reactivation of varicella-zoster virus
10621	POLR3F	HP:0005318	Cerebral vasculitis
10625	IVNS1ABP	HP:0025188	Retinal vasculitis
10625	IVNS1ABP	HP:0002583	Colitis
10625	IVNS1ABP	HP:0002571	Achalasia
10625	IVNS1ABP	HP:0010976	B lymphocytopenia
10625	IVNS1ABP	HP:0000006	Autosomal dominant inheritance
10625	IVNS1ABP	HP:0002608	Celiac disease
10625	IVNS1ABP	HP:0002721	Immunodeficiency
10625	IVNS1ABP	HP:0003460	Decreased circulating total IgA
10625	IVNS1ABP	HP:0020083	Furuncle
10625	IVNS1ABP	HP:0200043	Verrucae
10625	IVNS1ABP	HP:0032132	Decreased circulating total IgG
10625	IVNS1ABP	HP:0004313	Decreased circulating antibody level
10625	IVNS1ABP	HP:0033004	Palmar warts
10625	IVNS1ABP	HP:0033005	Plantar warts
10625	IVNS1ABP	HP:0002850	Decreased circulating total IgM
10625	IVNS1ABP	HP:0011108	Recurrent sinusitis
10625	IVNS1ABP	HP:0012432	Chronic fatigue
10625	IVNS1ABP	HP:0005407	Decreased proportion of CD4-positive helper T cells
10630	PDPN	HP:0001156	Brachydactyly
10630	PDPN	HP:0002465	Poor speech
10630	PDPN	HP:0001107	Ocular albinism
10630	PDPN	HP:0008551	Microtia
10630	PDPN	HP:0001274	Agenesis of corpus callosum
10630	PDPN	HP:0001288	Gait disturbance
10630	PDPN	HP:0001250	Seizure
10630	PDPN	HP:0001252	Hypotonia
10630	PDPN	HP:0001249	Intellectual disability
10630	PDPN	HP:0002591	Polyphagia
10630	PDPN	HP:0001263	Global developmental delay
10630	PDPN	HP:0008736	Hypoplasia of penis
10630	PDPN	HP:0001397	Hepatic steatosis
10630	PDPN	HP:0001392	Abnormality of the liver
10630	PDPN	HP:0000077	Abnormality of the kidney
10630	PDPN	HP:0000055	Abnormality of female external genitalia
10630	PDPN	HP:0001385	Hip dysplasia
10630	PDPN	HP:0001387	Joint stiffness
10630	PDPN	HP:0000047	Hypospadias
10630	PDPN	HP:0000028	Cryptorchidism
10630	PDPN	HP:0008872	Feeding difficulties in infancy
10630	PDPN	HP:0001344	Absent speech
10630	PDPN	HP:0002650	Scoliosis
10630	PDPN	HP:0000160	Narrow mouth
10630	PDPN	HP:0000135	Hypogonadism
10630	PDPN	HP:0000126	Hydronephrosis
10630	PDPN	HP:0000107	Renal cyst
10630	PDPN	HP:0002715	Abnormality of the immune system
10630	PDPN	HP:0002021	Pyloric stenosis
10630	PDPN	HP:0002020	Gastroesophageal reflux
10630	PDPN	HP:0002019	Constipation
10630	PDPN	HP:0002015	Dysphagia
10630	PDPN	HP:0002007	Frontal bossing
10630	PDPN	HP:0011800	Midface retrusion
10630	PDPN	HP:0100559	Lower limb asymmetry
10630	PDPN	HP:0002120	Cerebral cortical atrophy
10630	PDPN	HP:0002119	Ventriculomegaly
10630	PDPN	HP:0003416	Spinal canal stenosis
10630	PDPN	HP:0002167	Abnormality of speech or vocalization
10630	PDPN	HP:0100490	Camptodactyly of finger
10630	PDPN	HP:0002242	Abnormal intestine morphology
10630	PDPN	HP:0100716	Self-injurious behavior
10630	PDPN	HP:0002230	Generalized hirsutism
10630	PDPN	HP:0001009	Telangiectasia
10630	PDPN	HP:0002353	EEG abnormality
10630	PDPN	HP:0008499	High hypermetropia
10630	PDPN	HP:0004209	Clinodactyly of the 5th finger
10630	PDPN	HP:0006824	Cranial nerve paralysis
10630	PDPN	HP:0000639	Nystagmus
10630	PDPN	HP:0000648	Optic atrophy
10630	PDPN	HP:0004322	Short stature
10630	PDPN	HP:0030680	Abnormality of cardiovascular system morphology
10630	PDPN	HP:0004378	Abnormality of the anus
10630	PDPN	HP:0004374	Hemiplegia/hemiparesis
10630	PDPN	HP:0003006	Neuroblastoma
10630	PDPN	HP:0012733	Macule
10630	PDPN	HP:0000733	Abnormal repetitive mannerisms
10630	PDPN	HP:0000750	Delayed speech and language development
10630	PDPN	HP:0000717	Autism
10630	PDPN	HP:0000708	Atypical behavior
10630	PDPN	HP:0003198	Myopathy
10630	PDPN	HP:0000902	Rib fusion
10630	PDPN	HP:0000878	11 pairs of ribs
10630	PDPN	HP:0000892	Bifid ribs
10630	PDPN	HP:0000821	Hypothyroidism
10630	PDPN	HP:0008066	Abnormal blistering of the skin
10630	PDPN	HP:0000286	Epicanthus
10630	PDPN	HP:0000270	Delayed cranial suture closure
10630	PDPN	HP:0005113	Aortic arch aneurysm
10630	PDPN	HP:0002808	Kyphosis
10630	PDPN	HP:0000252	Microcephaly
10630	PDPN	HP:0000248	Brachycephaly
10630	PDPN	HP:0001508	Failure to thrive
10630	PDPN	HP:0001513	Obesity
10630	PDPN	HP:0000368	Low-set, posteriorly rotated ears
10630	PDPN	HP:0001671	Abnormal cardiac septum morphology
10630	PDPN	HP:0000343	Long philtrum
10630	PDPN	HP:0001643	Patent ductus arteriosus
10630	PDPN	HP:0001644	Dilated cardiomyopathy
10630	PDPN	HP:0001654	Abnormal heart valve morphology
10630	PDPN	HP:0001636	Tetralogy of Fallot
10630	PDPN	HP:0000307	Pointed chin
10630	PDPN	HP:0000407	Sensorineural hearing impairment
10630	PDPN	HP:0001734	Annular pancreas
10630	PDPN	HP:0000405	Conductive hearing impairment
10630	PDPN	HP:0005280	Depressed nasal bridge
10630	PDPN	HP:0000486	Strabismus
10630	PDPN	HP:0000490	Deeply set eye
10630	PDPN	HP:0000464	Abnormality of the neck
10630	PDPN	HP:0000457	Depressed nasal ridge
10630	PDPN	HP:0001773	Short foot
10630	PDPN	HP:0001743	Abnormality of the spleen
10630	PDPN	HP:0000431	Wide nasal bridge
10630	PDPN	HP:0000518	Cataract
10630	PDPN	HP:0001829	Foot polydactyly
10630	PDPN	HP:0000505	Visual impairment
10630	PDPN	HP:0000504	Abnormality of vision
10630	PDPN	HP:0011228	Horizontal eyebrow
10630	PDPN	HP:0000534	Abnormal eyebrow morphology
10641	NPRL2	HP:0002427	Expressive aphasia
10641	NPRL2	HP:0001250	Seizure
10641	NPRL2	HP:0001249	Intellectual disability
10641	NPRL2	HP:0008765	Auditory hallucinations
10641	NPRL2	HP:0007359	Focal-onset seizure
10641	NPRL2	HP:0002521	Hypsarrhythmia
10641	NPRL2	HP:0003829	Typified by incomplete penetrance
10641	NPRL2	HP:0025373	Interictal EEG abnormality
10641	NPRL2	HP:0012005	Deja vu aura
10641	NPRL2	HP:0000006	Autosomal dominant inheritance
10641	NPRL2	HP:0031284	Flushing
10641	NPRL2	HP:0100543	Cognitive impairment
10641	NPRL2	HP:0002069	Bilateral tonic-clonic seizure
10641	NPRL2	HP:0002126	Polymicrogyria
10641	NPRL2	HP:0003401	Paresthesia
10641	NPRL2	HP:0032046	Focal cortical dysplasia
10641	NPRL2	HP:0002384	Focal impaired awareness seizure
10641	NPRL2	HP:0002367	Visual hallucinations
10641	NPRL2	HP:0002349	Focal aware seizure
10641	NPRL2	HP:0010841	Multifocal epileptiform discharges
10641	NPRL2	HP:0007206	Hemimegalencephaly
10641	NPRL2	HP:0031951	Nocturnal seizures
10641	NPRL2	HP:0000729	Autistic behavior
10641	NPRL2	HP:0000708	Atypical behavior
10641	NPRL2	HP:0000980	Pallor
10641	NPRL2	HP:0011185	EEG with focal epileptiform discharges
10641	NPRL2	HP:0011171	Simple febrile seizure
10641	NPRL2	HP:0012469	Infantile spasms
10641	NPRL2	HP:0012531	Pain
10644	IGF2BP2	HP:0000006	Autosomal dominant inheritance
10644	IGF2BP2	HP:0005978	Type II diabetes mellitus
10644	IGF2BP2	HP:0003584	Late onset
10644	IGF2BP2	HP:0031819	Increased waist to hip ratio
10644	IGF2BP2	HP:0000855	Insulin resistance
10651	MTX2	HP:0009882	Short distal phalanx of finger
10651	MTX2	HP:0001290	Generalized hypotonia
10651	MTX2	HP:0001252	Hypotonia
10651	MTX2	HP:0100864	Short femoral neck
10651	MTX2	HP:0003819	Death in childhood
10651	MTX2	HP:0000097	Focal segmental glomerulosclerosis
10651	MTX2	HP:0000093	Proteinuria
10651	MTX2	HP:0001376	Limitation of joint mobility
10651	MTX2	HP:0001371	Flexion contracture
10651	MTX2	HP:0001387	Joint stiffness
10651	MTX2	HP:0002680	J-shaped sella turcica
10651	MTX2	HP:0008897	Postnatal growth retardation
10651	MTX2	HP:0006191	Deep palmar crease
10651	MTX2	HP:0007495	Prematurely aged appearance
10651	MTX2	HP:0000007	Autosomal recessive inheritance
10651	MTX2	HP:0002645	Wormian bones
10651	MTX2	HP:0031107	Decreased fibular diameter
10651	MTX2	HP:0000164	Abnormality of the dentition
10651	MTX2	HP:0000160	Narrow mouth
10651	MTX2	HP:0002797	Osteolysis
10651	MTX2	HP:0001403	Macrovesicular hepatic steatosis
10651	MTX2	HP:0002007	Frontal bossing
10651	MTX2	HP:0002155	Hypertriglyceridemia
10651	MTX2	HP:0010575	Dysplasia of the femoral head
10651	MTX2	HP:0003593	Infantile onset
10651	MTX2	HP:0002240	Hepatomegaly
10651	MTX2	HP:0100783	Breast aplasia
10651	MTX2	HP:0008404	Nail dystrophy
10651	MTX2	HP:0001029	Poikiloderma
10651	MTX2	HP:0009839	Osteolytic defects of the distal phalanges of the hand
10651	MTX2	HP:0100679	Lack of skin elasticity
10651	MTX2	HP:0009771	Osteolytic defects of the phalanges of the hand
10651	MTX2	HP:0001952	Glucose intolerance
10651	MTX2	HP:0009064	Generalized lipodystrophy
10651	MTX2	HP:0000668	Hypodontia
10651	MTX2	HP:0004322	Short stature
10651	MTX2	HP:0004334	Dermal atrophy
10651	MTX2	HP:0003077	Hyperlipidemia
10651	MTX2	HP:0004382	Mitral valve calcification
10651	MTX2	HP:0003011	Abnormality of the musculature
10651	MTX2	HP:0000767	Pectus excavatum
10651	MTX2	HP:0011463	Childhood onset
10651	MTX2	HP:0000883	Thin ribs
10651	MTX2	HP:0000855	Insulin resistance
10651	MTX2	HP:0010284	Intra-oral hyperpigmentation
10651	MTX2	HP:0040217	Elevated hemoglobin A1c
10651	MTX2	HP:0045075	Sparse eyebrow
10651	MTX2	HP:0000972	Palmoplantar hyperkeratosis
10651	MTX2	HP:0000953	Hyperpigmentation of the skin
10651	MTX2	HP:0000963	Thin skin
10651	MTX2	HP:0000938	Osteopenia
10651	MTX2	HP:0005815	Supernumerary ribs
10651	MTX2	HP:0008070	Sparse hair
10651	MTX2	HP:0001596	Alopecia
10651	MTX2	HP:0000270	Delayed cranial suture closure
10651	MTX2	HP:0002829	Arthralgia
10651	MTX2	HP:0000239	Large fontanelles
10651	MTX2	HP:0000248	Brachycephaly
10651	MTX2	HP:0000218	High palate
10651	MTX2	HP:0002857	Genu valgum
10651	MTX2	HP:0002910	Elevated hepatic transaminase
10651	MTX2	HP:0005180	Tricuspid regurgitation
10651	MTX2	HP:0000365	Hearing impairment
10651	MTX2	HP:0000343	Long philtrum
10651	MTX2	HP:0000348	High forehead
10651	MTX2	HP:0000347	Micrognathia
10651	MTX2	HP:0000322	Short philtrum
10651	MTX2	HP:0001653	Mitral regurgitation
10651	MTX2	HP:0000325	Triangular face
10651	MTX2	HP:0001655	Patent foramen ovale
10651	MTX2	HP:0001620	High pitched voice
10651	MTX2	HP:0005328	Progeroid facial appearance
10651	MTX2	HP:0001712	Left ventricular hypertrophy
10651	MTX2	HP:0005280	Depressed nasal bridge
10651	MTX2	HP:0000418	Narrow nasal ridge
10651	MTX2	HP:0000414	Bulbous nose
10651	MTX2	HP:0000430	Underdeveloped nasal alae
10651	MTX2	HP:0006710	Aplasia/Hypoplasia of the clavicles
10651	MTX2	HP:0000518	Cataract
10651	MTX2	HP:0001852	Sandal gap
10651	MTX2	HP:0000520	Proptosis
10651	MTX2	HP:0000586	Shallow orbits
10651	MTX2	HP:0000561	Absent eyelashes
10651	MTX2	HP:0001870	Acroosteolysis of distal phalanges (feet)
10651	MTX2	HP:0000534	Abnormal eyebrow morphology
10653	SPINT2	HP:0002566	Intestinal malrotation
10653	SPINT2	HP:0000073	Ureteral duplication
10653	SPINT2	HP:0000007	Autosomal recessive inheritance
10653	SPINT2	HP:0000143	Rectovaginal fistula
10653	SPINT2	HP:0002023	Anal atresia
10653	SPINT2	HP:0200020	Corneal erosion
10653	SPINT2	HP:0001939	Abnormality of metabolism/homeostasis
10653	SPINT2	HP:0003270	Abdominal distention
10653	SPINT2	HP:0000973	Cutis laxa
10653	SPINT2	HP:0000256	Macrocephaly
10653	SPINT2	HP:0001561	Polyhydramnios
10653	SPINT2	HP:0005208	Secretory diarrhea
10653	SPINT2	HP:0000369	Low-set ears
10653	SPINT2	HP:0000316	Hypertelorism
10653	SPINT2	HP:0000453	Choanal atresia
10653	SPINT2	HP:0000588	Optic disc coloboma
10654	PMVK	HP:0000006	Autosomal dominant inheritance
10654	PMVK	HP:0001036	Parakeratosis
10654	PMVK	HP:0200044	Porokeratosis
10654	PMVK	HP:0003621	Juvenile onset
10654	PMVK	HP:0011462	Young adult onset
10654	PMVK	HP:0000992	Cutaneous photosensitivity
10654	PMVK	HP:0000989	Pruritus
10654	PMVK	HP:0000962	Hyperkeratosis
10654	PMVK	HP:0008065	Aplasia/Hypoplasia of the skin
10659	CELF2	HP:0002421	Poor head control
10659	CELF2	HP:0001298	Encephalopathy
10659	CELF2	HP:0001290	Generalized hypotonia
10659	CELF2	HP:0001273	Abnormal corpus callosum morphology
10659	CELF2	HP:0001268	Mental deterioration
10659	CELF2	HP:0001250	Seizure
10659	CELF2	HP:0001252	Hypotonia
10659	CELF2	HP:0001251	Ataxia
10659	CELF2	HP:0001249	Intellectual disability
10659	CELF2	HP:0001265	Hyporeflexia
10659	CELF2	HP:0001263	Global developmental delay
10659	CELF2	HP:0001257	Spasticity
10659	CELF2	HP:0002540	Inability to walk
10659	CELF2	HP:0002521	Hypsarrhythmia
10659	CELF2	HP:0002509	Limb hypertonia
10659	CELF2	HP:0025336	Delayed ability to sit
10659	CELF2	HP:0001337	Tremor
10659	CELF2	HP:0000006	Autosomal dominant inheritance
10659	CELF2	HP:0001336	Myoclonus
10659	CELF2	HP:0001315	Reduced tendon reflexes
10659	CELF2	HP:0012171	Stereotypical hand wringing
10659	CELF2	HP:0002020	Gastroesophageal reflux
10659	CELF2	HP:0002063	Rigidity
10659	CELF2	HP:0002059	Cerebral atrophy
10659	CELF2	HP:0033128	Delayed ability to crawl
10659	CELF2	HP:0002119	Ventriculomegaly
10659	CELF2	HP:0002133	Status epilepticus
10659	CELF2	HP:0003593	Infantile onset
10659	CELF2	HP:0100710	Impulsivity
10659	CELF2	HP:0200134	Epileptic encephalopathy
10659	CELF2	HP:0007018	Attention deficit hyperactivity disorder
10659	CELF2	HP:0011968	Feeding difficulties
10659	CELF2	HP:0002376	Developmental regression
10659	CELF2	HP:0002355	Difficulty walking
10659	CELF2	HP:0002317	Unsteady gait
10659	CELF2	HP:0010844	EEG with multifocal slow activity
10659	CELF2	HP:0100660	Dyskinesia
10659	CELF2	HP:0003623	Neonatal onset
10659	CELF2	HP:0000639	Nystagmus
10659	CELF2	HP:0000648	Optic atrophy
10659	CELF2	HP:0000668	Hypodontia
10659	CELF2	HP:0004322	Short stature
10659	CELF2	HP:0004305	Involuntary movements
10659	CELF2	HP:0031936	Delayed ability to walk
10659	CELF2	HP:0000750	Delayed speech and language development
10659	CELF2	HP:0000717	Autism
10659	CELF2	HP:0000729	Autistic behavior
10659	CELF2	HP:0000708	Atypical behavior
10659	CELF2	HP:0011443	Abnormality of coordination
10659	CELF2	HP:0000252	Microcephaly
10659	CELF2	HP:0001558	Decreased fetal movement
10659	CELF2	HP:0001508	Failure to thrive
10659	CELF2	HP:0011097	Epileptic spasm
10659	CELF2	HP:0000348	High forehead
10659	CELF2	HP:0032989	Delayed ability to roll over
10659	CELF2	HP:0000494	Downslanted palpebral fissures
10659	CELF2	HP:0012444	Brain atrophy
10659	CELF2	HP:0012447	Abnormal myelination
10659	CELF2	HP:0000508	Ptosis
10659	CELF2	HP:0000504	Abnormality of vision
10659	CELF2	HP:0012547	Abnormal involuntary eye movements
10659	CELF2	HP:0000546	Retinal degeneration
10660	LBX1	HP:0002572	Episodic vomiting
10660	LBX1	HP:0000007	Autosomal recessive inheritance
10660	LBX1	HP:0002046	Heat intolerance
10660	LBX1	HP:0002104	Apnea
10660	LBX1	HP:0011968	Feeding difficulties
10660	LBX1	HP:0007110	Central hypoventilation
10660	LBX1	HP:0003623	Neonatal onset
10660	LBX1	HP:0000875	Episodic hypertension
10660	LBX1	HP:0002878	Respiratory failure
10660	LBX1	HP:0012450	Chronic constipation
10661	KLF1	HP:0010972	Anemia of inadequate production
10661	KLF1	HP:0000054	Micropenis
10661	KLF1	HP:0000047	Hypospadias
10661	KLF1	HP:0000006	Autosomal dominant inheritance
10661	KLF1	HP:0012132	Erythroid hyperplasia
10661	KLF1	HP:0025435	Increased circulating lactate dehydrogenase concentration
10661	KLF1	HP:0001433	Hepatosplenomegaly
10661	KLF1	HP:0002027	Abdominal pain
10661	KLF1	HP:0003330	Abnormal bone structure
10661	KLF1	HP:0002007	Frontal bossing
10661	KLF1	HP:0002113	Pulmonary infiltrates
10661	KLF1	HP:0011904	Persistence of hemoglobin F
10661	KLF1	HP:0033281	Circulating nucleated red blood cells
10661	KLF1	HP:0008282	Unconjugated hyperbilirubinemia
10661	KLF1	HP:0003577	Congenital onset
10661	KLF1	HP:0002240	Hepatomegaly
10661	KLF1	HP:0008346	Increased red cell sickling tendency
10661	KLF1	HP:0004840	Hypochromic microcytic anemia
10661	KLF1	HP:0020062	Decreased hemoglobin concentration
10661	KLF1	HP:0032169	Severe infection
10661	KLF1	HP:0020181	Reduced haptoglobin level
10661	KLF1	HP:0003621	Juvenile onset
10661	KLF1	HP:0031851	Reduced hematocrit
10661	KLF1	HP:0001981	Schistocytosis
10661	KLF1	HP:0001923	Reticulocytosis
10661	KLF1	HP:0001903	Anemia
10661	KLF1	HP:0004322	Short stature
10661	KLF1	HP:0031965	Increased RBC distribution width
10661	KLF1	HP:0011461	Fetal onset
10661	KLF1	HP:0004447	Poikilocytosis
10661	KLF1	HP:0000821	Hypothyroidism
10661	KLF1	HP:0045047	HbS hemoglobin
10661	KLF1	HP:0000980	Pallor
10661	KLF1	HP:0000260	Wide anterior fontanel
10661	KLF1	HP:0002829	Arthralgia
10661	KLF1	HP:0002904	Hyperbilirubinemia
10661	KLF1	HP:0001639	Hypertrophic cardiomyopathy
10661	KLF1	HP:0000488	Retinopathy
10661	KLF1	HP:0001789	Hydrops fetalis
10661	KLF1	HP:0001746	Asplenia
10661	KLF1	HP:0001744	Splenomegaly
10661	KLF1	HP:0011273	Anisocytosis
10661	KLF1	HP:0001824	Weight loss
10661	KLF1	HP:0001878	Hemolytic anemia
10664	CTCF	HP:0025116	Fetal distress
10664	CTCF	HP:0025160	Abnormal temper tantrums
10664	CTCF	HP:0100806	Sepsis
10664	CTCF	HP:0001252	Hypotonia
10664	CTCF	HP:0001249	Intellectual disability
10664	CTCF	HP:0001263	Global developmental delay
10664	CTCF	HP:0001212	Prominent fingertip pads
10664	CTCF	HP:0002553	Highly arched eyebrow
10664	CTCF	HP:0000059	Hypoplastic labia majora
10664	CTCF	HP:0000023	Inguinal hernia
10664	CTCF	HP:0001363	Craniosynostosis
10664	CTCF	HP:0000028	Cryptorchidism
10664	CTCF	HP:0000006	Autosomal dominant inheritance
10664	CTCF	HP:0000164	Abnormality of the dentition
10664	CTCF	HP:0000160	Narrow mouth
10664	CTCF	HP:0000175	Cleft palate
10664	CTCF	HP:0002783	Recurrent lower respiratory tract infections
10664	CTCF	HP:0002719	Recurrent infections
10664	CTCF	HP:0002020	Gastroesophageal reflux
10664	CTCF	HP:0004691	2-3 toe syndactyly
10664	CTCF	HP:0002000	Short columella
10664	CTCF	HP:0011800	Midface retrusion
10664	CTCF	HP:0002092	Pulmonary arterial hypertension
10664	CTCF	HP:0002119	Ventriculomegaly
10664	CTCF	HP:0003577	Congenital onset
10664	CTCF	HP:0011968	Feeding difficulties
10664	CTCF	HP:0002360	Sleep disturbance
10664	CTCF	HP:0004209	Clinodactyly of the 5th finger
10664	CTCF	HP:0010059	Broad hallux phalanx
10664	CTCF	HP:0000675	Macrodontia of permanent maxillary central incisor
10664	CTCF	HP:0000691	Microdontia
10664	CTCF	HP:0001999	Abnormal facial shape
10664	CTCF	HP:0000664	Synophrys
10664	CTCF	HP:0004322	Short stature
10664	CTCF	HP:0000750	Delayed speech and language development
10664	CTCF	HP:0000729	Autistic behavior
10664	CTCF	HP:0000708	Atypical behavior
10664	CTCF	HP:0009183	Joint contracture of the 5th finger
10664	CTCF	HP:0011470	Nasogastric tube feeding in infancy
10664	CTCF	HP:0012758	Neurodevelopmental delay
10664	CTCF	HP:0003196	Short nose
10664	CTCF	HP:0040223	Pulmonary hemorrhage
10664	CTCF	HP:0000998	Hypertrichosis
10664	CTCF	HP:0000954	Single transverse palmar crease
10664	CTCF	HP:0000960	Sacral dimple
10664	CTCF	HP:0000938	Osteopenia
10664	CTCF	HP:0000286	Epicanthus
10664	CTCF	HP:0000252	Microcephaly
10664	CTCF	HP:0000219	Thin upper lip vermilion
10664	CTCF	HP:0000233	Thin vermilion border
10664	CTCF	HP:0001508	Failure to thrive
10664	CTCF	HP:0001518	Small for gestational age
10664	CTCF	HP:0011081	Incisor macrodontia
10664	CTCF	HP:0000378	Cupped ear
10664	CTCF	HP:0006579	Prolonged neonatal jaundice
10664	CTCF	HP:0006528	Chronic lung disease
10664	CTCF	HP:0000358	Posteriorly rotated ears
10664	CTCF	HP:0000369	Low-set ears
10664	CTCF	HP:0000368	Low-set, posteriorly rotated ears
10664	CTCF	HP:0000341	Narrow forehead
10664	CTCF	HP:0000343	Long philtrum
10664	CTCF	HP:0001680	Coarctation of aorta
10664	CTCF	HP:0000348	High forehead
10664	CTCF	HP:0000316	Hypertelorism
10664	CTCF	HP:0001643	Patent ductus arteriosus
10664	CTCF	HP:0000322	Short philtrum
10664	CTCF	HP:0001653	Mitral regurgitation
10664	CTCF	HP:0001631	Atrial septal defect
10664	CTCF	HP:0000486	Strabismus
10664	CTCF	HP:0000482	Microcornea
10664	CTCF	HP:0000490	Deeply set eye
10664	CTCF	HP:0000463	Anteverted nares
10664	CTCF	HP:0000455	Broad nasal tip
10664	CTCF	HP:0001741	Phimosis
10664	CTCF	HP:0000527	Long eyelashes
10664	CTCF	HP:0001852	Sandal gap
10664	CTCF	HP:0000574	Thick eyebrow
10664	CTCF	HP:0000540	Hypermetropia
10667	FARS2	HP:0002490	Increased CSF lactate
10667	FARS2	HP:0007210	Lower limb amyotrophy
10667	FARS2	HP:0002421	Poor head control
10667	FARS2	HP:0001272	Cerebellar atrophy
10667	FARS2	HP:0001250	Seizure
10667	FARS2	HP:0001252	Hypotonia
10667	FARS2	HP:0001260	Dysarthria
10667	FARS2	HP:0001263	Global developmental delay
10667	FARS2	HP:0001258	Spastic paraplegia
10667	FARS2	HP:0007366	Atrophy/Degeneration affecting the brainstem
10667	FARS2	HP:0008689	Bilateral cryptorchidism
10667	FARS2	HP:0002506	Diffuse cerebral atrophy
10667	FARS2	HP:0002505	Loss of ambulation
10667	FARS2	HP:0003800	Muscle abnormality related to mitochondrial dysfunction
10667	FARS2	HP:0003819	Death in childhood
10667	FARS2	HP:0001385	Hip dysplasia
10667	FARS2	HP:0000020	Urinary incontinence
10667	FARS2	HP:0025321	Copper accumulation in liver
10667	FARS2	HP:0001347	Hyperreflexia
10667	FARS2	HP:0008872	Feeding difficulties in infancy
10667	FARS2	HP:0001332	Dystonia
10667	FARS2	HP:0000011	Neurogenic bladder
10667	FARS2	HP:0001344	Absent speech
10667	FARS2	HP:0000007	Autosomal recessive inheritance
10667	FARS2	HP:0001336	Myoclonus
10667	FARS2	HP:0025488	Detrusor sphincter dyssynergia
10667	FARS2	HP:0008936	Axial hypotonia
10667	FARS2	HP:0002751	Kyphoscoliosis
10667	FARS2	HP:0003355	Aminoaciduria
10667	FARS2	HP:0002080	Intention tremor
10667	FARS2	HP:0002067	Bradykinesia
10667	FARS2	HP:0002068	Neuromuscular dysphagia
10667	FARS2	HP:0002061	Lower limb spasticity
10667	FARS2	HP:0002059	Cerebral atrophy
10667	FARS2	HP:0008110	Equinovarus deformity
10667	FARS2	HP:0003487	Babinski sign
10667	FARS2	HP:0002151	Increased serum lactate
10667	FARS2	HP:0002120	Cerebral cortical atrophy
10667	FARS2	HP:0002119	Ventriculomegaly
10667	FARS2	HP:0002171	Gliosis
10667	FARS2	HP:0010549	Weakness due to upper motor neuron dysfunction
10667	FARS2	HP:0002268	Paroxysmal dystonia
10667	FARS2	HP:0100785	Insomnia
10667	FARS2	HP:0007020	Progressive spastic paraplegia
10667	FARS2	HP:0011968	Feeding difficulties
10667	FARS2	HP:0002395	Lower limb hyperreflexia
10667	FARS2	HP:0002376	Developmental regression
10667	FARS2	HP:0002353	EEG abnormality
10667	FARS2	HP:0003677	Slowly progressive
10667	FARS2	HP:0025053	Elevated brain N-acetyl aspartate level by MRS
10667	FARS2	HP:0003623	Neonatal onset
10667	FARS2	HP:0001903	Anemia
10667	FARS2	HP:0000675	Macrodontia of permanent maxillary central incisor
10667	FARS2	HP:0006999	Basal ganglia gliosis
10667	FARS2	HP:0012736	Profound global developmental delay
10667	FARS2	HP:0012707	Elevated brain lactate level by MRS
10667	FARS2	HP:0003128	Lactic acidosis
10667	FARS2	HP:0000278	Retrognathia
10667	FARS2	HP:0000252	Microcephaly
10667	FARS2	HP:0002882	Sudden episodic apnea
10667	FARS2	HP:0001522	Death in infancy
10667	FARS2	HP:0001510	Growth delay
10667	FARS2	HP:0006568	Increased hepatic glycogen content
10667	FARS2	HP:0005216	Impaired mastication
10667	FARS2	HP:0000365	Hearing impairment
10667	FARS2	HP:0032794	Myoclonic seizure
10667	FARS2	HP:0000486	Strabismus
10667	FARS2	HP:0012465	Elevated hepatic iron concentration
10667	FARS2	HP:0012407	Scissor gait
10667	FARS2	HP:0000508	Ptosis
10667	FARS2	HP:0000505	Visual impairment
10667	FARS2	HP:0001873	Thrombocytopenia
10677	AVIL	HP:0003774	Stage 5 chronic kidney disease
10677	AVIL	HP:0000007	Autosomal recessive inheritance
10677	AVIL	HP:0031266	Podocyte foot process effacement
10677	AVIL	HP:0001967	Diffuse mesangial sclerosis
10677	AVIL	HP:0012588	Steroid-resistant nephrotic syndrome
10681	GNB5	HP:0010864	Intellectual disability, severe
10681	GNB5	HP:0002421	Poor head control
10681	GNB5	HP:0001290	Generalized hypotonia
10681	GNB5	HP:0001270	Motor delay
10681	GNB5	HP:0001250	Seizure
10681	GNB5	HP:0001252	Hypotonia
10681	GNB5	HP:0001249	Intellectual disability
10681	GNB5	HP:0001263	Global developmental delay
10681	GNB5	HP:0002521	Hypsarrhythmia
10681	GNB5	HP:0001344	Absent speech
10681	GNB5	HP:0000007	Autosomal recessive inheritance
10681	GNB5	HP:0002020	Gastroesophageal reflux
10681	GNB5	HP:0011704	Sick sinus syndrome
10681	GNB5	HP:0003593	Infantile onset
10681	GNB5	HP:0007010	Poor fine motor coordination
10681	GNB5	HP:0007018	Attention deficit hyperactivity disorder
10681	GNB5	HP:0000639	Nystagmus
10681	GNB5	HP:0000752	Hyperactivity
10681	GNB5	HP:0000750	Delayed speech and language development
10681	GNB5	HP:0000817	Reduced eye contact
10681	GNB5	HP:0011675	Arrhythmia
10681	GNB5	HP:0012248	Prolonged PR interval
10681	GNB5	HP:0000252	Microcephaly
10681	GNB5	HP:0005155	Ventricular escape rhythm
10681	GNB5	HP:0001662	Bradycardia
10681	GNB5	HP:0001655	Patent foramen ovale
10681	GNB5	HP:0001626	Abnormality of the cardiovascular system
10681	GNB5	HP:0000512	Abnormal electroretinogram
10681	GNB5	HP:0000563	Keratoconus
10681	GNB5	HP:0000546	Retinal degeneration
10682	EBP	HP:0001161	Hand polydactyly
10682	EBP	HP:0001134	Anterior polar cataract
10682	EBP	HP:0001104	Macular hypoplasia
10682	EBP	HP:0009941	Asymmetry of the mouth
10682	EBP	HP:0001197	Abnormality of prenatal development or birth
10682	EBP	HP:0001290	Generalized hypotonia
10682	EBP	HP:0100807	Long fingers
10682	EBP	HP:0001276	Hypertonia
10682	EBP	HP:0001250	Seizure
10682	EBP	HP:0001252	Hypotonia
10682	EBP	HP:0001249	Intellectual disability
10682	EBP	HP:0001263	Global developmental delay
10682	EBP	HP:0007431	Congenital ichthyosiform erythroderma
10682	EBP	HP:0002509	Limb hypertonia
10682	EBP	HP:0001371	Flexion contracture
10682	EBP	HP:0000028	Cryptorchidism
10682	EBP	HP:0008897	Postnatal growth retardation
10682	EBP	HP:0008850	Severe postnatal growth retardation
10682	EBP	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
10682	EBP	HP:0001344	Absent speech
10682	EBP	HP:0001305	Dandy-Walker malformation
10682	EBP	HP:0002650	Scoliosis
10682	EBP	HP:0002644	Abnormal pelvic girdle bone morphology
10682	EBP	HP:0008905	Rhizomelia
10682	EBP	HP:0025474	Erythematous plaque
10682	EBP	HP:0000175	Cleft palate
10682	EBP	HP:0007663	Reduced visual acuity
10682	EBP	HP:0008936	Axial hypotonia
10682	EBP	HP:0002777	Tracheal stenosis
10682	EBP	HP:0002787	Tracheal calcification
10682	EBP	HP:0000126	Hydronephrosis
10682	EBP	HP:0001423	X-linked dominant inheritance
10682	EBP	HP:0002751	Kyphoscoliosis
10682	EBP	HP:0001419	X-linked recessive inheritance
10682	EBP	HP:0004691	2-3 toe syndactyly
10682	EBP	HP:0005989	Redundant neck skin
10682	EBP	HP:0002007	Frontal bossing
10682	EBP	HP:0011800	Midface retrusion
10682	EBP	HP:0002088	Abnormal lung morphology
10682	EBP	HP:0100560	Upper limb asymmetry
10682	EBP	HP:0100556	Hemiatrophy
10682	EBP	HP:0100559	Lower limb asymmetry
10682	EBP	HP:0002079	Hypoplasia of the corpus callosum
10682	EBP	HP:0010442	Polydactyly
10682	EBP	HP:0008131	Tarsal stippling
10682	EBP	HP:0100569	Abnormally ossified vertebrae
10682	EBP	HP:0002119	Ventriculomegaly
10682	EBP	HP:0003465	Elevated 8(9)-cholestenol
10682	EBP	HP:0003462	Elevated 8-dehydrocholesterol
10682	EBP	HP:0004736	Crossed fused renal ectopia
10682	EBP	HP:0010557	Overlapping fingers
10682	EBP	HP:0003577	Congenital onset
10682	EBP	HP:0100702	Arachnoid cyst
10682	EBP	HP:0002232	Patchy alopecia
10682	EBP	HP:0002208	Coarse hair
10682	EBP	HP:0010720	Abnormal hair pattern
10682	EBP	HP:0010655	Epiphyseal stippling
10682	EBP	HP:0002342	Intellectual disability, moderate
10682	EBP	HP:0001019	Erythroderma
10682	EBP	HP:0008443	Neuropathic spinal arthropathy
10682	EBP	HP:0008434	Hypoplastic cervical vertebrae
10682	EBP	HP:0008420	Punctate vertebral calcifications
10682	EBP	HP:0005590	Spotty hypopigmentation
10682	EBP	HP:0004241	Stippled calcification in carpal bones
10682	EBP	HP:0000639	Nystagmus
10682	EBP	HP:0010055	Broad hallux
10682	EBP	HP:0000653	Sparse eyelashes
10682	EBP	HP:0001998	Neonatal hypoglycemia
10682	EBP	HP:0004322	Short stature
10682	EBP	HP:0006958	Abnormal auditory evoked potentials
10682	EBP	HP:0000752	Hyperactivity
10682	EBP	HP:0000765	Abnormal thorax morphology
10682	EBP	HP:0000718	Aggressive behavior
10682	EBP	HP:0005756	Neonatal epiphyseal stippling
10682	EBP	HP:0000929	Abnormal skull morphology
10682	EBP	HP:0004468	Anomalous tracheal cartilage
10682	EBP	HP:0004552	Scarring alopecia of scalp
10682	EBP	HP:0045075	Sparse eyebrow
10682	EBP	HP:0100259	Postaxial polydactyly
10682	EBP	HP:0000951	Abnormality of the skin
10682	EBP	HP:0000969	Edema
10682	EBP	HP:0000960	Sacral dimple
10682	EBP	HP:0045025	Narrow palpebral fissure
10682	EBP	HP:0008070	Sparse hair
10682	EBP	HP:0008064	Ichthyosis
10682	EBP	HP:0040189	Scaling skin
10682	EBP	HP:0001597	Abnormality of the nail
10682	EBP	HP:0000260	Wide anterior fontanel
10682	EBP	HP:0000272	Malar flattening
10682	EBP	HP:0002827	Hip dislocation
10682	EBP	HP:0002808	Kyphosis
10682	EBP	HP:0000238	Hydrocephalus
10682	EBP	HP:0000237	Small anterior fontanelle
10682	EBP	HP:0000218	High palate
10682	EBP	HP:0001561	Polyhydramnios
10682	EBP	HP:0001508	Failure to thrive
10682	EBP	HP:0002832	Calcific stippling
10682	EBP	HP:0012368	Flat face
10682	EBP	HP:0000377	Abnormal pinna morphology
10682	EBP	HP:0000396	Overfolded helix
10682	EBP	HP:0002937	Hemivertebrae
10682	EBP	HP:0000365	Hearing impairment
10682	EBP	HP:0000358	Posteriorly rotated ears
10682	EBP	HP:0000369	Low-set ears
10682	EBP	HP:0002999	Patellar dislocation
10682	EBP	HP:0000347	Micrognathia
10682	EBP	HP:0001650	Aortic valve stenosis
10682	EBP	HP:0000319	Smooth philtrum
10682	EBP	HP:0000316	Hypertelorism
10682	EBP	HP:0000324	Facial asymmetry
10682	EBP	HP:0001627	Abnormal heart morphology
10682	EBP	HP:0000308	Microretrognathia
10682	EBP	HP:0006619	Anterior rib punctate calcifications
10682	EBP	HP:0000407	Sensorineural hearing impairment
10682	EBP	HP:0005280	Depressed nasal bridge
10682	EBP	HP:0000482	Microcornea
10682	EBP	HP:0000494	Downslanted palpebral fissures
10682	EBP	HP:0011120	Concave nasal ridge
10682	EBP	HP:0000472	Long neck
10682	EBP	HP:0000474	Thickened nuchal skin fold
10682	EBP	HP:0000470	Short neck
10682	EBP	HP:0012433	Abnormal social behavior
10682	EBP	HP:0001776	Bilateral talipes equinovarus
10682	EBP	HP:0000414	Bulbous nose
10682	EBP	HP:0001762	Talipes equinovarus
10682	EBP	HP:0000426	Prominent nasal bridge
10682	EBP	HP:0000422	Abnormal nasal bridge morphology
10682	EBP	HP:0000518	Cataract
10682	EBP	HP:0001845	Overlapping toe
10682	EBP	HP:0000506	Telecanthus
10682	EBP	HP:0000501	Glaucoma
10682	EBP	HP:0000582	Upslanted palpebral fissure
10682	EBP	HP:0000568	Microphthalmia
10682	EBP	HP:0000565	Esotropia
10683	DLL3	HP:0002435	Meningocele
10683	DLL3	HP:0001249	Intellectual disability
10683	DLL3	HP:0006101	Finger syndactyly
10683	DLL3	HP:0010978	Abnormality of immune system physiology
10683	DLL3	HP:0000069	Abnormality of the ureter
10683	DLL3	HP:0000047	Hypospadias
10683	DLL3	HP:0000023	Inguinal hernia
10683	DLL3	HP:0000028	Cryptorchidism
10683	DLL3	HP:0000008	Abnormal morphology of female internal genitalia
10683	DLL3	HP:0000007	Autosomal recessive inheritance
10683	DLL3	HP:0002650	Scoliosis
10683	DLL3	HP:0000175	Cleft palate
10683	DLL3	HP:0002751	Kyphoscoliosis
10683	DLL3	HP:0003312	Abnormal form of the vertebral bodies
10683	DLL3	HP:0003310	Abnormality of the odontoid process
10683	DLL3	HP:0003305	Block vertebrae
10683	DLL3	HP:0002093	Respiratory insufficiency
10683	DLL3	HP:0100589	Urogenital fistula
10683	DLL3	HP:0003422	Vertebral segmentation defect
10683	DLL3	HP:0003418	Back pain
10683	DLL3	HP:0100490	Camptodactyly of finger
10683	DLL3	HP:0002205	Recurrent respiratory infections
10683	DLL3	HP:0003510	Severe short stature
10683	DLL3	HP:0003521	Disproportionate short-trunk short stature
10683	DLL3	HP:0010772	Anomalous pulmonary venous return
10683	DLL3	HP:0004322	Short stature
10683	DLL3	HP:0030680	Abnormality of cardiovascular system morphology
10683	DLL3	HP:0000772	Abnormal rib morphology
10683	DLL3	HP:0011461	Fetal onset
10683	DLL3	HP:0000776	Congenital diaphragmatic hernia
10683	DLL3	HP:0000902	Rib fusion
10683	DLL3	HP:0003298	Spina bifida occulta
10683	DLL3	HP:0003270	Abdominal distention
10683	DLL3	HP:0010306	Short thorax
10683	DLL3	HP:0000256	Macrocephaly
10683	DLL3	HP:0000269	Prominent occiput
10683	DLL3	HP:0005108	Abnormal intervertebral disk morphology
10683	DLL3	HP:0002808	Kyphosis
10683	DLL3	HP:0000252	Microcephaly
10683	DLL3	HP:0001522	Death in infancy
10683	DLL3	HP:0001537	Umbilical hernia
10683	DLL3	HP:0001538	Protuberant abdomen
10683	DLL3	HP:0001511	Intrauterine growth retardation
10683	DLL3	HP:0002937	Hemivertebrae
10683	DLL3	HP:0002948	Vertebral fusion
10683	DLL3	HP:0000368	Low-set, posteriorly rotated ears
10683	DLL3	HP:0000343	Long philtrum
10683	DLL3	HP:0000337	Broad forehead
10683	DLL3	HP:0006655	Rib segmentation abnormalities
10683	DLL3	HP:0005280	Depressed nasal bridge
10683	DLL3	HP:0000476	Cystic hygroma
10683	DLL3	HP:0000463	Anteverted nares
10683	DLL3	HP:0000470	Short neck
10686	CLDN16	HP:0001281	Tetany
10686	CLDN16	HP:0001250	Seizure
10686	CLDN16	HP:0008872	Feeding difficulties in infancy
10686	CLDN16	HP:0000010	Recurrent urinary tract infections
10686	CLDN16	HP:0000007	Autosomal recessive inheritance
10686	CLDN16	HP:0000121	Nephrocalcinosis
10686	CLDN16	HP:0000103	Polyuria
10686	CLDN16	HP:0002027	Abdominal pain
10686	CLDN16	HP:0002150	Hypercalciuria
10686	CLDN16	HP:0002149	Hyperuricemia
10686	CLDN16	HP:0008341	Distal renal tubular acidosis
10686	CLDN16	HP:0003621	Juvenile onset
10686	CLDN16	HP:0005567	Renal magnesium wasting
10686	CLDN16	HP:0012622	Chronic kidney disease
10686	CLDN16	HP:0000639	Nystagmus
10686	CLDN16	HP:0012608	Hypermagnesiuria
10686	CLDN16	HP:0001959	Polydipsia
10686	CLDN16	HP:0012637	Renal calcium wasting
10686	CLDN16	HP:0004363	Abnormal circulating calcium concentration
10686	CLDN16	HP:0000790	Hematuria
10686	CLDN16	HP:0000787	Nephrolithiasis
10686	CLDN16	HP:0003165	Elevated circulating parathyroid hormone level
10686	CLDN16	HP:0001508	Failure to thrive
10686	CLDN16	HP:0002917	Hypomagnesemia
10686	CLDN16	HP:0000483	Astigmatism
10686	CLDN16	HP:0000486	Strabismus
10686	CLDN16	HP:0012405	Hypocitraturia
10686	CLDN16	HP:0012406	Hypercitraturia
10686	CLDN16	HP:0000540	Hypermetropia
10686	CLDN16	HP:0000545	Myopia
10695	CNPY3	HP:0010851	EEG with burst suppression
10695	CNPY3	HP:0001250	Seizure
10695	CNPY3	HP:0001263	Global developmental delay
10695	CNPY3	HP:0002540	Inability to walk
10695	CNPY3	HP:0002521	Hypsarrhythmia
10695	CNPY3	HP:0002510	Spastic tetraplegia
10695	CNPY3	HP:0000007	Autosomal recessive inheritance
10695	CNPY3	HP:0001336	Myoclonus
10695	CNPY3	HP:0002187	Intellectual disability, profound
10695	CNPY3	HP:0003593	Infantile onset
10695	CNPY3	HP:0200134	Epileptic encephalopathy
10695	CNPY3	HP:0002283	Global brain atrophy
10695	CNPY3	HP:0002384	Focal impaired awareness seizure
10695	CNPY3	HP:0002376	Developmental regression
10695	CNPY3	HP:0000707	Abnormality of the nervous system
10695	CNPY3	HP:0034396	Hippocampal malrotation
10695	CNPY3	HP:0011097	Epileptic spasm
10695	CNPY3	HP:0032792	Tonic seizure
10695	CNPY3	HP:0032794	Myoclonic seizure
10695	CNPY3	HP:0012469	Infantile spasms
10695	CNPY3	HP:0011121	Abnormality of skin morphology
10699	CORIN	HP:0000093	Proteinuria
10699	CORIN	HP:0000077	Abnormality of the kidney
10699	CORIN	HP:0000006	Autosomal dominant inheritance
10699	CORIN	HP:0000147	Polycystic ovaries
10699	CORIN	HP:0002027	Abdominal pain
10699	CORIN	HP:0003581	Adult onset
10699	CORIN	HP:0100767	Abnormal placenta morphology
10699	CORIN	HP:0002360	Sleep disturbance
10699	CORIN	HP:0002315	Headache
10699	CORIN	HP:0100651	Type I diabetes mellitus
10699	CORIN	HP:0100602	Preeclampsia
10699	CORIN	HP:0012622	Chronic kidney disease
10699	CORIN	HP:0001919	Acute kidney injury
10699	CORIN	HP:0000707	Abnormality of the nervous system
10699	CORIN	HP:0004421	Elevated systolic blood pressure
10699	CORIN	HP:0000822	Hypertension
10699	CORIN	HP:0003259	Elevated circulating creatinine concentration
10699	CORIN	HP:0031418	Increased body mass index
10699	CORIN	HP:0005117	Elevated diastolic blood pressure
10699	CORIN	HP:0001518	Small for gestational age
10699	CORIN	HP:0001511	Intrauterine growth retardation
10699	CORIN	HP:0005202	Helicobacter pylori infection
10699	CORIN	HP:0002910	Elevated hepatic transaminase
10699	CORIN	HP:0002960	Autoimmunity
10699	CORIN	HP:0006707	Abnormality of the hepatic vasculature
10699	CORIN	HP:0000504	Abnormality of vision
10699	CORIN	HP:0001873	Thrombocytopenia
10715	CERS1	HP:0010852	EEG with photoparoxysmal response
10715	CERS1	HP:0001272	Cerebellar atrophy
10715	CERS1	HP:0001288	Gait disturbance
10715	CERS1	HP:0001249	Intellectual disability
10715	CERS1	HP:0001266	Choreoathetosis
10715	CERS1	HP:0001260	Dysarthria
10715	CERS1	HP:0001263	Global developmental delay
10715	CERS1	HP:0007366	Atrophy/Degeneration affecting the brainstem
10715	CERS1	HP:0002527	Falls
10715	CERS1	HP:0000007	Autosomal recessive inheritance
10715	CERS1	HP:0001336	Myoclonus
10715	CERS1	HP:0002069	Bilateral tonic-clonic seizure
10715	CERS1	HP:0002078	Truncal ataxia
10715	CERS1	HP:0002070	Limb ataxia
10715	CERS1	HP:0003593	Infantile onset
10715	CERS1	HP:0002344	Progressive neurologic deterioration
10715	CERS1	HP:0003676	Progressive
10715	CERS1	HP:0000639	Nystagmus
10715	CERS1	HP:0000750	Delayed speech and language development
10715	CERS1	HP:0000726	Dementia
10715	CERS1	HP:0034360	Action myoclonus
10716	TBR1	HP:0001188	Hand clenching
10716	TBR1	HP:0010864	Intellectual disability, severe
10716	TBR1	HP:0001290	Generalized hypotonia
10716	TBR1	HP:0100807	Long fingers
10716	TBR1	HP:0001250	Seizure
10716	TBR1	HP:0001249	Intellectual disability
10716	TBR1	HP:0001263	Global developmental delay
10716	TBR1	HP:0002540	Inability to walk
10716	TBR1	HP:0001388	Joint laxity
10716	TBR1	HP:0000006	Autosomal dominant inheritance
10716	TBR1	HP:0001302	Pachygyria
10716	TBR1	HP:0001319	Neonatal hypotonia
10716	TBR1	HP:0000190	Abnormal oral frenulum morphology
10716	TBR1	HP:0000175	Cleft palate
10716	TBR1	HP:0100490	Camptodactyly of finger
10716	TBR1	HP:0003593	Infantile onset
10716	TBR1	HP:0010078	Bullet-shaped distal phalanx of the hallux
10716	TBR1	HP:0011344	Severe global developmental delay
10716	TBR1	HP:0031936	Delayed ability to walk
10716	TBR1	HP:0000735	Impaired social interactions
10716	TBR1	HP:0000750	Delayed speech and language development
10716	TBR1	HP:0000717	Autism
10716	TBR1	HP:0000729	Autistic behavior
10716	TBR1	HP:0000708	Atypical behavior
10716	TBR1	HP:0000274	Small face
10716	TBR1	HP:0002871	Central apnea
10716	TBR1	HP:0001508	Failure to thrive
10716	TBR1	HP:0001518	Small for gestational age
10716	TBR1	HP:0001510	Growth delay
10716	TBR1	HP:0000368	Low-set, posteriorly rotated ears
10716	TBR1	HP:0000316	Hypertelorism
10716	TBR1	HP:0000322	Short philtrum
10716	TBR1	HP:0000494	Downslanted palpebral fissures
10716	TBR1	HP:0000470	Short neck
10716	TBR1	HP:0001770	Toe syndactyly
10716	TBR1	HP:0000518	Cataract
10716	TBR1	HP:0000525	Abnormality iris morphology
10716	TBR1	HP:0000589	Coloboma
10716	TBR1	HP:0000568	Microphthalmia
10717	AP4B1	HP:0002465	Poor speech
10717	AP4B1	HP:0002464	Spastic dysarthria
10717	AP4B1	HP:0100962	Shyness
10717	AP4B1	HP:0010864	Intellectual disability, severe
10717	AP4B1	HP:0001272	Cerebellar atrophy
10717	AP4B1	HP:0001250	Seizure
10717	AP4B1	HP:0001252	Hypotonia
10717	AP4B1	HP:0001260	Dysarthria
10717	AP4B1	HP:0001263	Global developmental delay
10717	AP4B1	HP:0001258	Spastic paraplegia
10717	AP4B1	HP:0001257	Spasticity
10717	AP4B1	HP:0002540	Inability to walk
10717	AP4B1	HP:0002518	Abnormal periventricular white matter morphology
10717	AP4B1	HP:0002515	Waddling gait
10717	AP4B1	HP:0008807	Acetabular dysplasia
10717	AP4B1	HP:0001371	Flexion contracture
10717	AP4B1	HP:0001347	Hyperreflexia
10717	AP4B1	HP:0001332	Dystonia
10717	AP4B1	HP:0000007	Autosomal recessive inheritance
10717	AP4B1	HP:0001319	Neonatal hypotonia
10717	AP4B1	HP:0000154	Wide mouth
10717	AP4B1	HP:0002761	Generalized joint laxity
10717	AP4B1	HP:0002079	Hypoplasia of the corpus callosum
10717	AP4B1	HP:0003487	Babinski sign
10717	AP4B1	HP:0002120	Cerebral cortical atrophy
10717	AP4B1	HP:0002119	Ventriculomegaly
10717	AP4B1	HP:0003577	Congenital onset
10717	AP4B1	HP:0007020	Progressive spastic paraplegia
10717	AP4B1	HP:0002355	Difficulty walking
10717	AP4B1	HP:0003677	Slowly progressive
10717	AP4B1	HP:0010803	Everted upper lip vermilion
10717	AP4B1	HP:0002307	Drooling
10717	AP4B1	HP:0000646	Amblyopia
10717	AP4B1	HP:0004322	Short stature
10717	AP4B1	HP:0000733	Abnormal repetitive mannerisms
10717	AP4B1	HP:0000750	Delayed speech and language development
10717	AP4B1	HP:0000280	Coarse facial features
10717	AP4B1	HP:0000297	Facial hypotonia
10717	AP4B1	HP:0002816	Genu recurvatum
10717	AP4B1	HP:0000252	Microcephaly
10717	AP4B1	HP:0000218	High palate
10717	AP4B1	HP:0025502	Overweight
10717	AP4B1	HP:0000341	Narrow forehead
10717	AP4B1	HP:0000322	Short philtrum
10717	AP4B1	HP:0000486	Strabismus
10717	AP4B1	HP:0001763	Pes planus
10717	AP4B1	HP:0000414	Bulbous nose
10717	AP4B1	HP:0001762	Talipes equinovarus
10717	AP4B1	HP:0000431	Wide nasal bridge
10730	YME1L1	HP:0002487	Hyperkinetic movements
10730	YME1L1	HP:0002465	Poor speech
10730	YME1L1	HP:0002474	Expressive language delay
10730	YME1L1	HP:0001270	Motor delay
10730	YME1L1	HP:0001250	Seizure
10730	YME1L1	HP:0001252	Hypotonia
10730	YME1L1	HP:0001251	Ataxia
10730	YME1L1	HP:0001249	Intellectual disability
10730	YME1L1	HP:0001263	Global developmental delay
10730	YME1L1	HP:0033685	Fiber type grouping
10730	YME1L1	HP:0002546	Incomprehensible speech
10730	YME1L1	HP:0001349	Facial diplegia
10730	YME1L1	HP:0001344	Absent speech
10730	YME1L1	HP:0000007	Autosomal recessive inheritance
10730	YME1L1	HP:0001310	Dysmetria
10730	YME1L1	HP:0001321	Cerebellar hypoplasia
10730	YME1L1	HP:0012172	Stereotypical body rocking
10730	YME1L1	HP:0002019	Constipation
10730	YME1L1	HP:0011800	Midface retrusion
10730	YME1L1	HP:0008180	Mildly elevated creatine kinase
10730	YME1L1	HP:0002151	Increased serum lactate
10730	YME1L1	HP:0002119	Ventriculomegaly
10730	YME1L1	HP:0003448	Decreased sensory nerve conduction velocity
10730	YME1L1	HP:0002188	Delayed CNS myelination
10730	YME1L1	HP:0010521	Gait apraxia
10730	YME1L1	HP:0003593	Infantile onset
10730	YME1L1	HP:0003557	Increased variability in muscle fiber diameter
10730	YME1L1	HP:0010729	Cherry red spot of the macula
10730	YME1L1	HP:0007018	Attention deficit hyperactivity disorder
10730	YME1L1	HP:0002352	Leukoencephalopathy
10730	YME1L1	HP:0002305	Athetosis
10730	YME1L1	HP:0000646	Amblyopia
10730	YME1L1	HP:0000648	Optic atrophy
10730	YME1L1	HP:0000609	Optic nerve hypoplasia
10730	YME1L1	HP:0004322	Short stature
10730	YME1L1	HP:0000752	Hyperactivity
10730	YME1L1	HP:0000256	Macrocephaly
10730	YME1L1	HP:0000252	Microcephaly
10730	YME1L1	HP:0000365	Hearing impairment
10730	YME1L1	HP:0011196	EEG with focal sharp waves
10730	YME1L1	HP:0000400	Macrotia
10730	YME1L1	HP:0000486	Strabismus
10730	YME1L1	HP:0012444	Brain atrophy
10730	YME1L1	HP:0001776	Bilateral talipes equinovarus
10730	YME1L1	HP:0001744	Splenomegaly
10730	YME1L1	HP:0000505	Visual impairment
10730	YME1L1	HP:0000540	Hypermetropia
10730	YME1L1	HP:0000545	Myopia
10733	PLK4	HP:0009879	Simplified gyral pattern
10733	PLK4	HP:0001276	Hypertonia
10733	PLK4	HP:0001272	Cerebellar atrophy
10733	PLK4	HP:0001250	Seizure
10733	PLK4	HP:0001249	Intellectual disability
10733	PLK4	HP:0001263	Global developmental delay
10733	PLK4	HP:0007401	Macular atrophy
10733	PLK4	HP:0007360	Aplasia/Hypoplasia of the cerebellum
10733	PLK4	HP:0001385	Hip dysplasia
10733	PLK4	HP:0001363	Craniosynostosis
10733	PLK4	HP:0007495	Prematurely aged appearance
10733	PLK4	HP:0001344	Absent speech
10733	PLK4	HP:0001338	Partial agenesis of the corpus callosum
10733	PLK4	HP:0000007	Autosomal recessive inheritance
10733	PLK4	HP:0002650	Scoliosis
10733	PLK4	HP:0001321	Cerebellar hypoplasia
10733	PLK4	HP:0012110	Hypoplasia of the pons
10733	PLK4	HP:0002750	Delayed skeletal maturation
10733	PLK4	HP:0004626	Lumbar scoliosis
10733	PLK4	HP:0100543	Cognitive impairment
10733	PLK4	HP:0002059	Cerebral atrophy
10733	PLK4	HP:0002120	Cerebral cortical atrophy
10733	PLK4	HP:0010579	Cone-shaped epiphysis
10733	PLK4	HP:0002269	Abnormality of neuronal migration
10733	PLK4	HP:0003577	Congenital onset
10733	PLK4	HP:0100702	Arachnoid cyst
10733	PLK4	HP:0002209	Sparse scalp hair
10733	PLK4	HP:0009804	Tooth agenesis
10733	PLK4	HP:0007165	Periventricular heterotopia
10733	PLK4	HP:0004209	Clinodactyly of the 5th finger
10733	PLK4	HP:0000639	Nystagmus
10733	PLK4	HP:0000648	Optic atrophy
10733	PLK4	HP:0000682	Abnormal dental enamel morphology
10733	PLK4	HP:0011342	Mild global developmental delay
10733	PLK4	HP:0004322	Short stature
10733	PLK4	HP:0004326	Cachexia
10733	PLK4	HP:0005692	Joint hyperflexibility
10733	PLK4	HP:0004422	Biparietal narrowing
10733	PLK4	HP:0007703	Abnormality of retinal pigmentation
10733	PLK4	HP:0000275	Narrow face
10733	PLK4	HP:0000252	Microcephaly
10733	PLK4	HP:0001511	Intrauterine growth retardation
10733	PLK4	HP:0000387	Absent earlobe
10733	PLK4	HP:0002943	Thoracic scoliosis
10733	PLK4	HP:0000363	Abnormal earlobe morphology
10733	PLK4	HP:0000340	Sloping forehead
10733	PLK4	HP:0000347	Micrognathia
10733	PLK4	HP:0000307	Pointed chin
10733	PLK4	HP:0000499	Abnormal eyelash morphology
10733	PLK4	HP:0000486	Strabismus
10733	PLK4	HP:0000482	Microcornea
10733	PLK4	HP:0000494	Downslanted palpebral fissures
10733	PLK4	HP:0000488	Retinopathy
10733	PLK4	HP:0000463	Anteverted nares
10733	PLK4	HP:0000448	Prominent nose
10733	PLK4	HP:0000444	Convex nasal ridge
10733	PLK4	HP:0000411	Protruding ear
10733	PLK4	HP:0001762	Talipes equinovarus
10733	PLK4	HP:0000431	Wide nasal bridge
10733	PLK4	HP:0000518	Cataract
10733	PLK4	HP:0001852	Sandal gap
10733	PLK4	HP:0000520	Proptosis
10733	PLK4	HP:0000505	Visual impairment
10733	PLK4	HP:0000501	Glaucoma
10733	PLK4	HP:0000568	Microphthalmia
10733	PLK4	HP:0000543	Optic disc pallor
10734	STAG3	HP:0031039	Early spermatogenesis maturation arrest
10734	STAG3	HP:0000007	Autosomal recessive inheritance
10734	STAG3	HP:0010464	Streak ovary
10734	STAG3	HP:0008232	Elevated circulating follicle stimulating hormone level
10734	STAG3	HP:0008209	Premature ovarian insufficiency
10734	STAG3	HP:0008214	Decreased serum estradiol
10734	STAG3	HP:0011969	Elevated circulating luteinizing hormone level
10734	STAG3	HP:0011961	Non-obstructive azoospermia
10734	STAG3	HP:0100615	Ovarian neoplasm
10734	STAG3	HP:0011462	Young adult onset
10734	STAG3	HP:0000786	Primary amenorrhea
10734	STAG3	HP:0003251	Male infertility
10735	STAG2	HP:0002465	Poor speech
10735	STAG2	HP:0002451	Limb dystonia
10735	STAG2	HP:0007301	Oromotor apraxia
10735	STAG2	HP:0009927	Aplasia of the nose
10735	STAG2	HP:0009932	Single naris
10735	STAG2	HP:0009914	Cyclopia
10735	STAG2	HP:0009890	High anterior hairline
10735	STAG2	HP:0008551	Microtia
10735	STAG2	HP:0001290	Generalized hypotonia
10735	STAG2	HP:0001274	Agenesis of corpus callosum
10735	STAG2	HP:0001254	Lethargy
10735	STAG2	HP:0001250	Seizure
10735	STAG2	HP:0001249	Intellectual disability
10735	STAG2	HP:0001263	Global developmental delay
10735	STAG2	HP:0001257	Spasticity
10735	STAG2	HP:0100842	Septo-optic dysplasia
10735	STAG2	HP:0002540	Inability to walk
10735	STAG2	HP:0002553	Highly arched eyebrow
10735	STAG2	HP:0002507	Semilobar holoprosencephaly
10735	STAG2	HP:0001371	Flexion contracture
10735	STAG2	HP:0001328	Specific learning disability
10735	STAG2	HP:0001344	Absent speech
10735	STAG2	HP:0002650	Scoliosis
10735	STAG2	HP:0001321	Cerebellar hypoplasia
10735	STAG2	HP:0000193	Bifid uvula
10735	STAG2	HP:0000161	Median cleft lip
10735	STAG2	HP:0000176	Submucous cleft hard palate
10735	STAG2	HP:0000175	Cleft palate
10735	STAG2	HP:0007665	Curly eyelashes
10735	STAG2	HP:0410030	Cleft lip
10735	STAG2	HP:0006315	Solitary median maxillary central incisor
10735	STAG2	HP:0008947	Infantile muscular hypotonia
10735	STAG2	HP:0000119	Abnormality of the genitourinary system
10735	STAG2	HP:0002793	Abnormal pattern of respiration
10735	STAG2	HP:0001419	X-linked recessive inheritance
10735	STAG2	HP:0001417	X-linked inheritance
10735	STAG2	HP:0002020	Gastroesophageal reflux
10735	STAG2	HP:0002019	Constipation
10735	STAG2	HP:0002033	Poor suck
10735	STAG2	HP:0002015	Dysphagia
10735	STAG2	HP:0002013	Vomiting
10735	STAG2	HP:0040327	Abnormal morphology of the olfactory bulb
10735	STAG2	HP:0002007	Frontal bossing
10735	STAG2	HP:0005968	Temperature instability
10735	STAG2	HP:0003316	Butterfly vertebrae
10735	STAG2	HP:0002079	Hypoplasia of the corpus callosum
10735	STAG2	HP:0010442	Polydactyly
10735	STAG2	HP:0011787	Central hypothyroidism
10735	STAG2	HP:0002270	Abnormality of the autonomic nervous system
10735	STAG2	HP:0100704	Cerebral visual impairment
10735	STAG2	HP:0002247	Duodenal atresia
10735	STAG2	HP:0010654	Aplasia of the falx cerebri
10735	STAG2	HP:0007018	Attention deficit hyperactivity disorder
10735	STAG2	HP:0011968	Feeding difficulties
10735	STAG2	HP:0011951	Aspiration pneumonia
10735	STAG2	HP:0002363	Abnormal brainstem morphology
10735	STAG2	HP:0002360	Sleep disturbance
10735	STAG2	HP:0002342	Intellectual disability, moderate
10735	STAG2	HP:0002317	Unsteady gait
10735	STAG2	HP:0008467	Thoracic hemivertebrae
10735	STAG2	HP:0008428	Vertebral clefting
10735	STAG2	HP:0004209	Clinodactyly of the 5th finger
10735	STAG2	HP:0031860	Abnormal heart rate variability
10735	STAG2	HP:0009099	Median cleft palate
10735	STAG2	HP:0009088	Speech articulation difficulties
10735	STAG2	HP:0000609	Optic nerve hypoplasia
10735	STAG2	HP:0000601	Hypotelorism
10735	STAG2	HP:0009062	Infantile axial hypotonia
10735	STAG2	HP:0001999	Abnormal facial shape
10735	STAG2	HP:0006988	Alobar holoprosencephaly
10735	STAG2	HP:0004322	Short stature
10735	STAG2	HP:0006979	Sleep-wake cycle disturbance
10735	STAG2	HP:0004383	Hypoplastic left heart
10735	STAG2	HP:0031936	Delayed ability to walk
10735	STAG2	HP:0000752	Hyperactivity
10735	STAG2	HP:0000737	Irritability
10735	STAG2	HP:0000739	Anxiety
10735	STAG2	HP:0000750	Delayed speech and language development
10735	STAG2	HP:0012718	Morphological abnormality of the gastrointestinal tract
10735	STAG2	HP:0000741	Apathy
10735	STAG2	HP:0000716	Depression
10735	STAG2	HP:0000729	Autistic behavior
10735	STAG2	HP:0000708	Atypical behavior
10735	STAG2	HP:0011471	Gastrostomy tube feeding in infancy
10735	STAG2	HP:0011442	Abnormal central motor function
10735	STAG2	HP:0000776	Congenital diaphragmatic hernia
10735	STAG2	HP:0000924	Abnormality of the skeletal system
10735	STAG2	HP:0004467	Preauricular pit
10735	STAG2	HP:0000873	Diabetes insipidus
10735	STAG2	HP:0000871	Panhypopituitarism
10735	STAG2	HP:0012806	Proboscis
10735	STAG2	HP:0000818	Abnormality of the endocrine system
10735	STAG2	HP:0000824	Decreased response to growth hormone stimulation test
10735	STAG2	HP:0040064	Abnormality of limbs
10735	STAG2	HP:0045075	Sparse eyebrow
10735	STAG2	HP:0045005	Neural tube defect
10735	STAG2	HP:0008050	Abnormality of the palpebral fissures
10735	STAG2	HP:0012285	Abnormal hypothalamus physiology
10735	STAG2	HP:0000286	Epicanthus
10735	STAG2	HP:0000297	Facial hypotonia
10735	STAG2	HP:0000293	Full cheeks
10735	STAG2	HP:0000294	Low anterior hairline
10735	STAG2	HP:0000256	Macrocephaly
10735	STAG2	HP:0000272	Malar flattening
10735	STAG2	HP:0002827	Hip dislocation
10735	STAG2	HP:0000238	Hydrocephalus
10735	STAG2	HP:0000252	Microcephaly
10735	STAG2	HP:0000219	Thin upper lip vermilion
10735	STAG2	HP:0000218	High palate
10735	STAG2	HP:0002871	Central apnea
10735	STAG2	HP:0001508	Failure to thrive
10735	STAG2	HP:0030048	Colpocephaly
10735	STAG2	HP:0001510	Growth delay
10735	STAG2	HP:0000384	Preauricular skin tag
10735	STAG2	HP:0006528	Chronic lung disease
10735	STAG2	HP:0000365	Hearing impairment
10735	STAG2	HP:0000369	Low-set ears
10735	STAG2	HP:0001671	Abnormal cardiac septum morphology
10735	STAG2	HP:0000340	Sloping forehead
10735	STAG2	HP:0000343	Long philtrum
10735	STAG2	HP:0001680	Coarctation of aorta
10735	STAG2	HP:0000347	Micrognathia
10735	STAG2	HP:0000319	Smooth philtrum
10735	STAG2	HP:0001643	Patent ductus arteriosus
10735	STAG2	HP:0000322	Short philtrum
10735	STAG2	HP:0000325	Triangular face
10735	STAG2	HP:0001655	Patent foramen ovale
10735	STAG2	HP:0001629	Ventricular septal defect
10735	STAG2	HP:0001627	Abnormal heart morphology
10735	STAG2	HP:0000303	Mandibular prognathia
10735	STAG2	HP:0000407	Sensorineural hearing impairment
10735	STAG2	HP:0001719	Double outlet right ventricle
10735	STAG2	HP:0005280	Depressed nasal bridge
10735	STAG2	HP:0012471	Thick vermilion border
10735	STAG2	HP:0000478	Abnormality of the eye
10735	STAG2	HP:0000457	Depressed nasal ridge
10735	STAG2	HP:0001763	Pes planus
10735	STAG2	HP:0000448	Prominent nose
10735	STAG2	HP:0000414	Bulbous nose
10735	STAG2	HP:0000431	Wide nasal bridge
10735	STAG2	HP:0000520	Proptosis
10736	SIX2	HP:0001263	Global developmental delay
10736	SIX2	HP:0000077	Abnormality of the kidney
10736	SIX2	HP:0002693	Abnormality of the skull base
10736	SIX2	HP:0002007	Frontal bossing
10736	SIX2	HP:0011330	Metopic synostosis
10736	SIX2	HP:0004322	Short stature
10736	SIX2	HP:0009119	Aplasia/Hypoplasia of the frontal sinuses
10736	SIX2	HP:0000820	Abnormality of the thyroid gland
10736	SIX2	HP:0010291	Prominent palatine ridges
10736	SIX2	HP:0000260	Wide anterior fontanel
10736	SIX2	HP:0000256	Macrocephaly
10736	SIX2	HP:0001518	Small for gestational age
10736	SIX2	HP:0001511	Intrauterine growth retardation
10736	SIX2	HP:0000358	Posteriorly rotated ears
10736	SIX2	HP:0000348	High forehead
10736	SIX2	HP:0000316	Hypertelorism
10736	SIX2	HP:0005280	Depressed nasal bridge
10736	SIX2	HP:0000455	Broad nasal tip
10736	SIX2	HP:0005494	Premature posterior fontanelle closure
10736	SIX2	HP:0005453	Absent/hypoplastic paranasal sinuses
10736	SIX2	HP:0000508	Ptosis
10736	SIX2	HP:0000537	Epicanthus inversus
10743	RAI1	HP:0001169	Broad palm
10743	RAI1	HP:0001156	Brachydactyly
10743	RAI1	HP:0001161	Hand polydactyly
10743	RAI1	HP:0002460	Distal muscle weakness
10743	RAI1	HP:0002474	Expressive language delay
10743	RAI1	HP:0007328	Impaired pain sensation
10743	RAI1	HP:0008609	Morphological abnormality of the middle ear
10743	RAI1	HP:0003745	Sporadic
10743	RAI1	HP:0001290	Generalized hypotonia
10743	RAI1	HP:0001288	Gait disturbance
10743	RAI1	HP:0001284	Areflexia
10743	RAI1	HP:0001256	Intellectual disability, mild
10743	RAI1	HP:0001250	Seizure
10743	RAI1	HP:0001252	Hypotonia
10743	RAI1	HP:0001249	Intellectual disability
10743	RAI1	HP:0001265	Hyporeflexia
10743	RAI1	HP:0001260	Dysarthria
10743	RAI1	HP:0001263	Global developmental delay
10743	RAI1	HP:0410263	Brain imaging abnormality
10743	RAI1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
10743	RAI1	HP:0008678	Renal hypoplasia/aplasia
10743	RAI1	HP:0000079	Abnormality of the urinary system
10743	RAI1	HP:0000069	Abnormality of the ureter
10743	RAI1	HP:0001388	Joint laxity
10743	RAI1	HP:0001387	Joint stiffness
10743	RAI1	HP:0032508	Polyembolokoilamania
10743	RAI1	HP:0032509	Onychotillomania
10743	RAI1	HP:0008872	Feeding difficulties in infancy
10743	RAI1	HP:0000006	Autosomal dominant inheritance
10743	RAI1	HP:0002650	Scoliosis
10743	RAI1	HP:0002623	Overriding aorta
10743	RAI1	HP:0000194	Open mouth
10743	RAI1	HP:0012168	Head-banging
10743	RAI1	HP:0000164	Abnormality of the dentition
10743	RAI1	HP:0000175	Cleft palate
10743	RAI1	HP:0000154	Wide mouth
10743	RAI1	HP:0008947	Infantile muscular hypotonia
10743	RAI1	HP:0032521	Self hugging
10743	RAI1	HP:0002715	Abnormality of the immune system
10743	RAI1	HP:0002020	Gastroesophageal reflux
10743	RAI1	HP:0002019	Constipation
10743	RAI1	HP:0004691	2-3 toe syndactyly
10743	RAI1	HP:0002007	Frontal bossing
10743	RAI1	HP:0003312	Abnormal form of the vertebral bodies
10743	RAI1	HP:0011800	Midface retrusion
10743	RAI1	HP:0100542	Abnormal localization of kidney
10743	RAI1	HP:0003396	Syringomyelia
10743	RAI1	HP:0002079	Hypoplasia of the corpus callosum
10743	RAI1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
10743	RAI1	HP:0002155	Hypertriglyceridemia
10743	RAI1	HP:0002119	Ventriculomegaly
10743	RAI1	HP:0002136	Broad-based gait
10743	RAI1	HP:0002167	Abnormality of speech or vocalization
10743	RAI1	HP:0010535	Sleep apnea
10743	RAI1	HP:0010529	Echolalia
10743	RAI1	HP:0100716	Self-injurious behavior
10743	RAI1	HP:0200101	Decreased/absent ankle reflexes
10743	RAI1	HP:0200136	Oral-pharyngeal dysphagia
10743	RAI1	HP:0100729	Large face
10743	RAI1	HP:0007010	Poor fine motor coordination
10743	RAI1	HP:0007016	Corticospinal tract hypoplasia
10743	RAI1	HP:0007018	Attention deficit hyperactivity disorder
10743	RAI1	HP:0002381	Aphasia
10743	RAI1	HP:0003693	Distal amyotrophy
10743	RAI1	HP:0002360	Sleep disturbance
10743	RAI1	HP:0002353	EEG abnormality
10743	RAI1	HP:0009830	Peripheral neuropathy
10743	RAI1	HP:0010804	Tented upper lip vermilion
10743	RAI1	HP:0010803	Everted upper lip vermilion
10743	RAI1	HP:0010807	Open bite
10743	RAI1	HP:0008499	High hypermetropia
10743	RAI1	HP:0010780	Hyperacusis
10743	RAI1	HP:0004942	Aortic aneurysm
10743	RAI1	HP:0004209	Clinodactyly of the 5th finger
10743	RAI1	HP:0031849	Sleep-wake inversion
10743	RAI1	HP:0004279	Short palm
10743	RAI1	HP:0000600	Abnormality of the pharynx
10743	RAI1	HP:0000680	Delayed eruption of primary teeth
10743	RAI1	HP:0000679	Taurodontia
10743	RAI1	HP:0009027	Foot dorsiflexor weakness
10743	RAI1	HP:0001999	Abnormal facial shape
10743	RAI1	HP:0000664	Synophrys
10743	RAI1	HP:0004324	Increased body weight
10743	RAI1	HP:0004322	Short stature
10743	RAI1	HP:0005607	Abnormal tracheobronchial morphology
10743	RAI1	HP:0030680	Abnormality of cardiovascular system morphology
10743	RAI1	HP:0031936	Delayed ability to walk
10743	RAI1	HP:0000752	Hyperactivity
10743	RAI1	HP:0000763	Sensory neuropathy
10743	RAI1	HP:0000762	Decreased nerve conduction velocity
10743	RAI1	HP:0000739	Anxiety
10743	RAI1	HP:0000733	Abnormal repetitive mannerisms
10743	RAI1	HP:0000750	Delayed speech and language development
10743	RAI1	HP:0000742	Self-mutilation
10743	RAI1	HP:0000717	Autism
10743	RAI1	HP:0000708	Atypical behavior
10743	RAI1	HP:0003124	Hypercholesterolemia
10743	RAI1	HP:0040129	Abnormal nerve conduction velocity
10743	RAI1	HP:0003196	Short nose
10743	RAI1	HP:0000826	Precocious puberty
10743	RAI1	HP:0000821	Hypothyroidism
10743	RAI1	HP:0000823	Delayed puberty
10743	RAI1	HP:0000820	Abnormality of the thyroid gland
10743	RAI1	HP:0008081	Pes valgus
10743	RAI1	HP:0000283	Broad face
10743	RAI1	HP:0000272	Malar flattening
10743	RAI1	HP:0000252	Microcephaly
10743	RAI1	HP:0000248	Brachycephaly
10743	RAI1	HP:0000220	Velopharyngeal insufficiency
10743	RAI1	HP:0012210	Abnormal renal morphology
10743	RAI1	HP:0000219	Thin upper lip vermilion
10743	RAI1	HP:0001558	Decreased fetal movement
10743	RAI1	HP:0001531	Failure to thrive in infancy
10743	RAI1	HP:0000202	Orofacial cleft
10743	RAI1	HP:0000204	Cleft upper lip
10743	RAI1	HP:0001508	Failure to thrive
10743	RAI1	HP:0001513	Obesity
10743	RAI1	HP:0011098	Speech apraxia
10743	RAI1	HP:0000377	Abnormal pinna morphology
10743	RAI1	HP:0000389	Chronic otitis media
10743	RAI1	HP:0001609	Hoarse voice
10743	RAI1	HP:0002936	Distal sensory impairment
10743	RAI1	HP:0001600	Abnormality of the larynx
10743	RAI1	HP:0002916	Abnormality of chromosome segregation
10743	RAI1	HP:0006482	Abnormality of dental morphology
10743	RAI1	HP:0000365	Hearing impairment
10743	RAI1	HP:0000356	Abnormality of the outer ear
10743	RAI1	HP:0000368	Low-set, posteriorly rotated ears
10743	RAI1	HP:0000343	Long philtrum
10743	RAI1	HP:0000337	Broad forehead
10743	RAI1	HP:0000347	Micrognathia
10743	RAI1	HP:0000319	Smooth philtrum
10743	RAI1	HP:0001647	Bicuspid aortic valve
10743	RAI1	HP:0000316	Hypertelorism
10743	RAI1	HP:0002973	Abnormal forearm morphology
10743	RAI1	HP:0000322	Short philtrum
10743	RAI1	HP:0000325	Triangular face
10743	RAI1	HP:0001655	Patent foramen ovale
10743	RAI1	HP:0001629	Ventricular septal defect
10743	RAI1	HP:0001627	Abnormal heart morphology
10743	RAI1	HP:0001631	Atrial septal defect
10743	RAI1	HP:0000303	Mandibular prognathia
10743	RAI1	HP:0005301	Persistent left superior vena cava
10743	RAI1	HP:0000405	Conductive hearing impairment
10743	RAI1	HP:0001719	Double outlet right ventricle
10743	RAI1	HP:0005280	Depressed nasal bridge
10743	RAI1	HP:0000486	Strabismus
10743	RAI1	HP:0000482	Microcornea
10743	RAI1	HP:0000478	Abnormality of the eye
10743	RAI1	HP:0000494	Downslanted palpebral fissures
10743	RAI1	HP:0000490	Deeply set eye
10743	RAI1	HP:0000463	Anteverted nares
10743	RAI1	HP:0012450	Chronic constipation
10743	RAI1	HP:0001770	Toe syndactyly
10743	RAI1	HP:0001763	Pes planus
10743	RAI1	HP:0000445	Wide nose
10743	RAI1	HP:0001760	Abnormal foot morphology
10743	RAI1	HP:0001762	Talipes equinovarus
10743	RAI1	HP:0000431	Wide nasal bridge
10743	RAI1	HP:0001852	Sandal gap
10743	RAI1	HP:0000582	Upslanted palpebral fissure
10743	RAI1	HP:0000541	Retinal detachment
10743	RAI1	HP:0000545	Myopia
10747	MASP2	HP:0000007	Autosomal recessive inheritance
10747	MASP2	HP:0002725	Systemic lupus erythematosus
10747	MASP2	HP:0004431	Complement deficiency
10747	MASP2	HP:0100279	Ulcerative colitis
10747	MASP2	HP:0006532	Recurrent pneumonia
10749	KIF1C	HP:0002497	Spastic ataxia
10749	KIF1C	HP:0007256	Abnormal pyramidal sign
10749	KIF1C	HP:0001272	Cerebellar atrophy
10749	KIF1C	HP:0002599	Head titubation
10749	KIF1C	HP:0001256	Intellectual disability, mild
10749	KIF1C	HP:0001260	Dysarthria
10749	KIF1C	HP:0001263	Global developmental delay
10749	KIF1C	HP:0001257	Spasticity
10749	KIF1C	HP:0002500	Abnormal cerebral white matter morphology
10749	KIF1C	HP:0025357	Erratic myoclonus
10749	KIF1C	HP:0001347	Hyperreflexia
10749	KIF1C	HP:0000007	Autosomal recessive inheritance
10749	KIF1C	HP:0001337	Tremor
10749	KIF1C	HP:0001310	Dysmetria
10749	KIF1C	HP:0007663	Reduced visual acuity
10749	KIF1C	HP:0002080	Intention tremor
10749	KIF1C	HP:0002066	Gait ataxia
10749	KIF1C	HP:0002072	Chorea
10749	KIF1C	HP:0002059	Cerebral atrophy
10749	KIF1C	HP:0003487	Babinski sign
10749	KIF1C	HP:0002169	Clonus
10749	KIF1C	HP:0002380	Fasciculations
10749	KIF1C	HP:0002395	Lower limb hyperreflexia
10749	KIF1C	HP:0003693	Distal amyotrophy
10749	KIF1C	HP:0002359	Frequent falls
10749	KIF1C	HP:0003676	Progressive
10749	KIF1C	HP:0002317	Unsteady gait
10749	KIF1C	HP:0009830	Peripheral neuropathy
10749	KIF1C	HP:0000668	Hypodontia
10749	KIF1C	HP:0000666	Horizontal nystagmus
10749	KIF1C	HP:0004322	Short stature
10749	KIF1C	HP:0000252	Microcephaly
10749	KIF1C	HP:0030051	Tip-toe gait
10749	KIF1C	HP:0011096	Peripheral demyelination
10749	KIF1C	HP:0030187	Titubation
10749	KIF1C	HP:0000473	Torticollis
10750	GRAP	HP:0000007	Autosomal recessive inheritance
10750	GRAP	HP:0000407	Sensorineural hearing impairment
10755	GIPC1	HP:0002460	Distal muscle weakness
10755	GIPC1	HP:0001283	Bulbar palsy
10755	GIPC1	HP:0001284	Areflexia
10755	GIPC1	HP:0008756	Bowing of the vocal cords
10755	GIPC1	HP:0002505	Loss of ambulation
10755	GIPC1	HP:0003805	Rimmed vacuoles
10755	GIPC1	HP:0031162	Impaired oropharyngeal swallow response
10755	GIPC1	HP:0000006	Autosomal dominant inheritance
10755	GIPC1	HP:0000183	Difficulty in tongue movements
10755	GIPC1	HP:0008997	Proximal muscle weakness in upper limbs
10755	GIPC1	HP:0008959	Distal upper limb muscle weakness
10755	GIPC1	HP:0008963	Tibialis muscle weakness
10755	GIPC1	HP:0008944	Distal lower limb amyotrophy
10755	GIPC1	HP:0002705	High, narrow palate
10755	GIPC1	HP:0002747	Respiratory insufficiency due to muscle weakness
10755	GIPC1	HP:0002091	Restrictive ventilatory defect
10755	GIPC1	HP:0002058	Myopathic facies
10755	GIPC1	HP:0003458	EMG: myopathic abnormalities
10755	GIPC1	HP:0002100	Recurrent aspiration pneumonia
10755	GIPC1	HP:0010550	Paraplegia
10755	GIPC1	HP:0003557	Increased variability in muscle fiber diameter
10755	GIPC1	HP:0200136	Oral-pharyngeal dysphagia
10755	GIPC1	HP:0008376	Nasal, dysarthic speech
10755	GIPC1	HP:0430015	Abnormal morphology of musculature of pharynx
10755	GIPC1	HP:0002355	Difficulty walking
10755	GIPC1	HP:0007149	Distal upper limb amyotrophy
10755	GIPC1	HP:0009073	Progressive proximal muscle weakness
10755	GIPC1	HP:0009063	Progressive distal muscle weakness
10755	GIPC1	HP:0009053	Distal lower limb muscle weakness
10755	GIPC1	HP:0009027	Foot dorsiflexor weakness
10755	GIPC1	HP:0011462	Young adult onset
10755	GIPC1	HP:0003236	Elevated circulating creatine kinase concentration
10755	GIPC1	HP:0100297	Increased endomysial connective tissue
10755	GIPC1	HP:0000218	High palate
10755	GIPC1	HP:0007838	Progressive ptosis
10755	GIPC1	HP:0001604	Vocal cord paresis
10755	GIPC1	HP:0030192	Fatigable weakness of bulbar muscles
10755	GIPC1	HP:0000301	Abnormality of facial musculature
10755	GIPC1	HP:0030319	Weakness of facial musculature
10755	GIPC1	HP:3000010	Abnormality of orbicularis oris muscle
10755	GIPC1	HP:0000408	Progressive sensorineural hearing impairment
10755	GIPC1	HP:3000005	Abnormality of masseter muscle
10755	GIPC1	HP:0001824	Weight loss
10755	GIPC1	HP:0000508	Ptosis
10755	GIPC1	HP:0000597	Ophthalmoparesis
10755	GIPC1	HP:0000590	Progressive external ophthalmoplegia
10755	GIPC1	HP:0012548	Fatty replacement of skeletal muscle
10755	GIPC1	HP:0000544	External ophthalmoplegia
10758	TRAF3IP2	HP:0100825	Cheilitis
10758	TRAF3IP2	HP:0001250	Seizure
10758	TRAF3IP2	HP:0001231	Abnormal fingernail morphology
10758	TRAF3IP2	HP:0008872	Feeding difficulties in infancy
10758	TRAF3IP2	HP:0000010	Recurrent urinary tract infections
10758	TRAF3IP2	HP:0000007	Autosomal recessive inheritance
10758	TRAF3IP2	HP:0000158	Macroglossia
10758	TRAF3IP2	HP:0000159	Abnormal lip morphology
10758	TRAF3IP2	HP:0000142	Abnormal vagina morphology
10758	TRAF3IP2	HP:0000153	Abnormality of the mouth
10758	TRAF3IP2	HP:0012115	Hepatitis
10758	TRAF3IP2	HP:0002719	Recurrent infections
10758	TRAF3IP2	HP:0002715	Abnormality of the immune system
10758	TRAF3IP2	HP:0002105	Hemoptysis
10758	TRAF3IP2	HP:0002205	Recurrent respiratory infections
10758	TRAF3IP2	HP:0008388	Abnormal toenail morphology
10758	TRAF3IP2	HP:0001051	Seborrheic dermatitis
10758	TRAF3IP2	HP:0200034	Papule
10758	TRAF3IP2	HP:0200042	Skin ulcer
10758	TRAF3IP2	HP:0010783	Erythema
10758	TRAF3IP2	HP:0003621	Juvenile onset
10758	TRAF3IP2	HP:0009098	Chronic oral candidiasis
10758	TRAF3IP2	HP:0000682	Abnormal dental enamel morphology
10758	TRAF3IP2	HP:0004306	Abnormal endocardium morphology
10758	TRAF3IP2	HP:0004370	Abnormality of temperature regulation
10758	TRAF3IP2	HP:0012735	Cough
10758	TRAF3IP2	HP:0011463	Childhood onset
10758	TRAF3IP2	HP:0000790	Hematuria
10758	TRAF3IP2	HP:0000989	Pruritus
10758	TRAF3IP2	HP:0000988	Skin rash
10758	TRAF3IP2	HP:0000951	Abnormality of the skin
10758	TRAF3IP2	HP:0000962	Hyperkeratosis
10758	TRAF3IP2	HP:0001597	Abnormality of the nail
10758	TRAF3IP2	HP:0012203	Onychomycosis
10758	TRAF3IP2	HP:0030016	Dyspareunia
10758	TRAF3IP2	HP:0000498	Blepharitis
10758	TRAF3IP2	HP:0000478	Abnormality of the eye
10758	TRAF3IP2	HP:0001821	Broad nail
10758	TRAF3IP2	HP:0000504	Abnormality of vision
10765	KDM5B	HP:0001263	Global developmental delay
10765	KDM5B	HP:0002558	Supernumerary nipple
10765	KDM5B	HP:0000047	Hypospadias
10765	KDM5B	HP:0000023	Inguinal hernia
10765	KDM5B	HP:0000028	Cryptorchidism
10765	KDM5B	HP:0001338	Partial agenesis of the corpus callosum
10765	KDM5B	HP:0000007	Autosomal recessive inheritance
10765	KDM5B	HP:0002066	Gait ataxia
10765	KDM5B	HP:0002079	Hypoplasia of the corpus callosum
10765	KDM5B	HP:0003593	Infantile onset
10765	KDM5B	HP:0011968	Feeding difficulties
10765	KDM5B	HP:0002342	Intellectual disability, moderate
10765	KDM5B	HP:0002317	Unsteady gait
10765	KDM5B	HP:0009765	Low hanging columella
10765	KDM5B	HP:0003623	Neonatal onset
10765	KDM5B	HP:0011344	Severe global developmental delay
10765	KDM5B	HP:0011343	Moderate global developmental delay
10765	KDM5B	HP:0031936	Delayed ability to walk
10765	KDM5B	HP:0000750	Delayed speech and language development
10765	KDM5B	HP:0000718	Aggressive behavior
10765	KDM5B	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
10765	KDM5B	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger
10765	KDM5B	HP:0000268	Dolichocephaly
10765	KDM5B	HP:0000233	Thin vermilion border
10765	KDM5B	HP:0000377	Abnormal pinna morphology
10765	KDM5B	HP:0001684	Secundum atrial septal defect
10765	KDM5B	HP:0000321	Square face
10765	KDM5B	HP:0000319	Smooth philtrum
10765	KDM5B	HP:0001631	Atrial septal defect
10765	KDM5B	HP:0000483	Astigmatism
10765	KDM5B	HP:0000486	Strabismus
10765	KDM5B	HP:0000494	Downslanted palpebral fissures
10765	KDM5B	HP:0000414	Bulbous nose
10765	KDM5B	HP:0000426	Prominent nasal bridge
10765	KDM5B	HP:0005487	Prominent metopic ridge
10765	KDM5B	HP:0000508	Ptosis
10765	KDM5B	HP:0000545	Myopia
10771	ZMYND11	HP:0001270	Motor delay
10771	ZMYND11	HP:0001256	Intellectual disability, mild
10771	ZMYND11	HP:0001252	Hypotonia
10771	ZMYND11	HP:0001263	Global developmental delay
10771	ZMYND11	HP:0002558	Supernumerary nipple
10771	ZMYND11	HP:0000006	Autosomal dominant inheritance
10771	ZMYND11	HP:0000154	Wide mouth
10771	ZMYND11	HP:0002069	Bilateral tonic-clonic seizure
10771	ZMYND11	HP:0003593	Infantile onset
10771	ZMYND11	HP:0000664	Synophrys
10771	ZMYND11	HP:0000735	Impaired social interactions
10771	ZMYND11	HP:0000750	Delayed speech and language development
10771	ZMYND11	HP:0000718	Aggressive behavior
10771	ZMYND11	HP:0000248	Brachycephaly
10771	ZMYND11	HP:0000396	Overfolded helix
10771	ZMYND11	HP:0000316	Hypertelorism
10771	ZMYND11	HP:0000508	Ptosis
10771	ZMYND11	HP:0000582	Upslanted palpebral fissure
10785	WDR4	HP:0001181	Adducted thumb
10785	WDR4	HP:0002410	Aqueductal stenosis
10785	WDR4	HP:0001276	Hypertonia
10785	WDR4	HP:0001272	Cerebellar atrophy
10785	WDR4	HP:0001270	Motor delay
10785	WDR4	HP:0001250	Seizure
10785	WDR4	HP:0001252	Hypotonia
10785	WDR4	HP:0001249	Intellectual disability
10785	WDR4	HP:0001263	Global developmental delay
10785	WDR4	HP:0001257	Spasticity
10785	WDR4	HP:0010978	Abnormality of immune system physiology
10785	WDR4	HP:0000097	Focal segmental glomerulosclerosis
10785	WDR4	HP:0000093	Proteinuria
10785	WDR4	HP:0001371	Flexion contracture
10785	WDR4	HP:0001348	Brisk reflexes
10785	WDR4	HP:0001344	Absent speech
10785	WDR4	HP:0001338	Partial agenesis of the corpus callosum
10785	WDR4	HP:0000007	Autosomal recessive inheritance
10785	WDR4	HP:0001302	Pachygyria
10785	WDR4	HP:0000164	Abnormality of the dentition
10785	WDR4	HP:0000154	Wide mouth
10785	WDR4	HP:0000100	Nephrotic syndrome
10785	WDR4	HP:0000112	Nephropathy
10785	WDR4	HP:0002750	Delayed skeletal maturation
10785	WDR4	HP:0002714	Downturned corners of mouth
10785	WDR4	HP:0002036	Hiatus hernia
10785	WDR4	HP:0100543	Cognitive impairment
10785	WDR4	HP:0002133	Status epilepticus
10785	WDR4	HP:0100490	Camptodactyly of finger
10785	WDR4	HP:0003593	Infantile onset
10785	WDR4	HP:0002269	Abnormality of neuronal migration
10785	WDR4	HP:0003577	Congenital onset
10785	WDR4	HP:0009748	Large earlobe
10785	WDR4	HP:0100720	Hypoplasia of the ear cartilage
10785	WDR4	HP:0002360	Sleep disturbance
10785	WDR4	HP:0002353	EEG abnormality
10785	WDR4	HP:0010804	Tented upper lip vermilion
10785	WDR4	HP:0004209	Clinodactyly of the 5th finger
10785	WDR4	HP:0006855	Cerebellar vermis atrophy
10785	WDR4	HP:0009085	Alveolar ridge overgrowth
10785	WDR4	HP:0000648	Optic atrophy
10785	WDR4	HP:0000629	Periorbital fullness
10785	WDR4	HP:0000601	Hypotelorism
10785	WDR4	HP:0000691	Microdontia
10785	WDR4	HP:0004325	Decreased body weight
10785	WDR4	HP:0004322	Short stature
10785	WDR4	HP:0003073	Hypoalbuminemia
10785	WDR4	HP:0004374	Hemiplegia/hemiparesis
10785	WDR4	HP:0031936	Delayed ability to walk
10785	WDR4	HP:0012736	Profound global developmental delay
10785	WDR4	HP:0000750	Delayed speech and language development
10785	WDR4	HP:0000749	Paroxysmal bursts of laughter
10785	WDR4	HP:0011461	Fetal onset
10785	WDR4	HP:0000821	Hypothyroidism
10785	WDR4	HP:0000824	Decreased response to growth hormone stimulation test
10785	WDR4	HP:0000286	Epicanthus
10785	WDR4	HP:0005108	Abnormal intervertebral disk morphology
10785	WDR4	HP:0000252	Microcephaly
10785	WDR4	HP:0000218	High palate
10785	WDR4	HP:0001508	Failure to thrive
10785	WDR4	HP:0001518	Small for gestational age
10785	WDR4	HP:0001511	Intrauterine growth retardation
10785	WDR4	HP:0001510	Growth delay
10785	WDR4	HP:0000348	High forehead
10785	WDR4	HP:0000347	Micrognathia
10785	WDR4	HP:0000316	Hypertelorism
10785	WDR4	HP:0000322	Short philtrum
10785	WDR4	HP:0001622	Premature birth
10785	WDR4	HP:0000400	Macrotia
10785	WDR4	HP:0005280	Depressed nasal bridge
10785	WDR4	HP:0000463	Anteverted nares
10785	WDR4	HP:0000520	Proptosis
10801	SEPTIN9	HP:0001271	Polyneuropathy
10801	SEPTIN9	HP:0001265	Hyporeflexia
10801	SEPTIN9	HP:0001324	Muscle weakness
10801	SEPTIN9	HP:0000006	Autosomal dominant inheritance
10801	SEPTIN9	HP:0000160	Narrow mouth
10801	SEPTIN9	HP:0000175	Cleft palate
10801	SEPTIN9	HP:0002093	Respiratory insufficiency
10801	SEPTIN9	HP:0033142	Long nasal bridge
10801	SEPTIN9	HP:0003457	EMG abnormality
10801	SEPTIN9	HP:0002167	Abnormality of speech or vocalization
10801	SEPTIN9	HP:0003401	Paresthesia
10801	SEPTIN9	HP:0001063	Acrocyanosis
10801	SEPTIN9	HP:0002360	Sleep disturbance
10801	SEPTIN9	HP:0003691	Scapular winging
10801	SEPTIN9	HP:0009830	Peripheral neuropathy
10801	SEPTIN9	HP:0000601	Hypotelorism
10801	SEPTIN9	HP:0004322	Short stature
10801	SEPTIN9	HP:0000764	Peripheral axonal degeneration
10801	SEPTIN9	HP:0000912	Sprengel anomaly
10801	SEPTIN9	HP:0040078	Axonal degeneration
10801	SEPTIN9	HP:0003202	Skeletal muscle atrophy
10801	SEPTIN9	HP:0045054	Brachial plexus neuropathy
10801	SEPTIN9	HP:0000286	Epicanthus
10801	SEPTIN9	HP:0002829	Arthralgia
10801	SEPTIN9	HP:0000369	Low-set ears
10801	SEPTIN9	HP:0000311	Round face
10801	SEPTIN9	HP:0000324	Facial asymmetry
10801	SEPTIN9	HP:0005280	Depressed nasal bridge
10801	SEPTIN9	HP:0000490	Deeply set eye
10801	SEPTIN9	HP:0000508	Ptosis
10801	SEPTIN9	HP:0000582	Upslanted palpebral fissure
10801	SEPTIN9	HP:0000581	Blepharophimosis
10804	GJB6	HP:0001155	Abnormality of the hand
10804	GJB6	HP:0003765	Psoriasiform dermatitis
10804	GJB6	HP:0008625	Severe sensorineural hearing impairment
10804	GJB6	HP:0008615	Adult onset sensorineural hearing impairment
10804	GJB6	HP:0100806	Sepsis
10804	GJB6	HP:0100838	Recurrent cutaneous abscess formation
10804	GJB6	HP:0002555	Absent pubic hair
10804	GJB6	HP:0007431	Congenital ichthyosiform erythroderma
10804	GJB6	HP:0007418	Alopecia totalis
10804	GJB6	HP:0010984	Digenic inheritance
10804	GJB6	HP:0003828	Variable expressivity
10804	GJB6	HP:0001369	Arthritis
10804	GJB6	HP:0008897	Postnatal growth retardation
10804	GJB6	HP:0007502	Follicular hyperkeratosis
10804	GJB6	HP:0008788	Delayed pubic bone ossification
10804	GJB6	HP:0002673	Coxa valga
10804	GJB6	HP:0000007	Autosomal recessive inheritance
10804	GJB6	HP:0000006	Autosomal dominant inheritance
10804	GJB6	HP:0001305	Dandy-Walker malformation
10804	GJB6	HP:0001320	Cerebellar vermis hypoplasia
10804	GJB6	HP:0000164	Abnormality of the dentition
10804	GJB6	HP:0031288	Cobblestone-like hyperkeratosis
10804	GJB6	HP:0001419	X-linked recessive inheritance
10804	GJB6	HP:0031250	Lip fissure
10804	GJB6	HP:0008138	Equinus calcaneus
10804	GJB6	HP:0004779	Brittle scalp hair
10804	GJB6	HP:0011911	Abnormal metacarpophalangeal joint morphology
10804	GJB6	HP:0002164	Nail dysplasia
10804	GJB6	HP:0011859	Punctate keratitis
10804	GJB6	HP:0002223	Absent eyebrow
10804	GJB6	HP:0002221	Absent axillary hair
10804	GJB6	HP:0002217	Slow-growing hair
10804	GJB6	HP:0002215	Sparse axillary hair
10804	GJB6	HP:0002225	Sparse pubic hair
10804	GJB6	HP:0002213	Fine hair
10804	GJB6	HP:0002209	Sparse scalp hair
10804	GJB6	HP:0008404	Nail dystrophy
10804	GJB6	HP:0002299	Brittle hair
10804	GJB6	HP:0100759	Clubbing of fingers
10804	GJB6	HP:0008383	Slow-growing nails
10804	GJB6	HP:0100648	Neoplasm of the tongue
10804	GJB6	HP:0200020	Corneal erosion
10804	GJB6	HP:0025092	Epidermal acanthosis
10804	GJB6	HP:0200036	Skin nodule
10804	GJB6	HP:0200035	Skin plaque
10804	GJB6	HP:0008527	Congenital sensorineural hearing impairment
10804	GJB6	HP:0025084	Folliculitis
10804	GJB6	HP:0009830	Peripheral neuropathy
10804	GJB6	HP:0001097	Keratoconjunctivitis sicca
10804	GJB6	HP:0001072	Thickened skin
10804	GJB6	HP:0032107	Limbal stem cell deficiency
10804	GJB6	HP:0005599	Hypopigmentation of hair
10804	GJB6	HP:0000613	Photophobia
10804	GJB6	HP:0011370	Recurrent cutaneous fungal infections
10804	GJB6	HP:0000653	Sparse eyelashes
10804	GJB6	HP:0001999	Abnormal facial shape
10804	GJB6	HP:0004322	Short stature
10804	GJB6	HP:0003065	Patellar hypoplasia
10804	GJB6	HP:0011496	Corneal neovascularization
10804	GJB6	HP:0012758	Neurodevelopmental delay
10804	GJB6	HP:0004458	Dilatated internal auditory canal
10804	GJB6	HP:0012844	Trichilemmoma
10804	GJB6	HP:0004552	Scarring alopecia of scalp
10804	GJB6	HP:0004528	Generalized hypotrichosis
10804	GJB6	HP:0045059	Hyperkeratotic papule
10804	GJB6	HP:0045075	Sparse eyebrow
10804	GJB6	HP:0030839	Knee pain
10804	GJB6	HP:0000972	Palmoplantar hyperkeratosis
10804	GJB6	HP:0000982	Palmoplantar keratoderma
10804	GJB6	HP:0000953	Hyperpigmentation of the skin
10804	GJB6	HP:0000968	Ectodermal dysplasia
10804	GJB6	HP:0000966	Hypohidrosis
10804	GJB6	HP:0008070	Sparse hair
10804	GJB6	HP:0040154	Acne inversa
10804	GJB6	HP:0008069	Neoplasm of the skin
10804	GJB6	HP:0040189	Scaling skin
10804	GJB6	HP:0008038	Aplastic/hypoplastic lacrimal glands
10804	GJB6	HP:0001596	Alopecia
10804	GJB6	HP:0006380	Knee flexion contracture
10804	GJB6	HP:0001581	Recurrent skin infections
10804	GJB6	HP:0000230	Gingivitis
10804	GJB6	HP:0002860	Squamous cell carcinoma
10804	GJB6	HP:0001508	Failure to thrive
10804	GJB6	HP:0000399	Prelingual sensorineural hearing impairment
10804	GJB6	HP:0000381	Stapes ankylosis
10804	GJB6	HP:0000365	Hearing impairment
10804	GJB6	HP:0025610	Posterior blepharitis
10804	GJB6	HP:0030318	Angular cheilitis
10804	GJB6	HP:0000498	Blepharitis
10804	GJB6	HP:0005328	Progeroid facial appearance
10804	GJB6	HP:0000408	Progressive sensorineural hearing impairment
10804	GJB6	HP:0000407	Sensorineural hearing impairment
10804	GJB6	HP:0000405	Conductive hearing impairment
10804	GJB6	HP:0000486	Strabismus
10804	GJB6	HP:0000491	Keratitis
10804	GJB6	HP:0001792	Small nail
10804	GJB6	HP:0001798	Anonychia
10804	GJB6	HP:0001751	Abnormal vestibular function
10804	GJB6	HP:0000410	Mixed hearing impairment
10804	GJB6	HP:0001760	Abnormal foot morphology
10804	GJB6	HP:0005406	Recurrent bacterial skin infections
10804	GJB6	HP:0005401	Recurrent candida infections
10804	GJB6	HP:0000518	Cataract
10804	GJB6	HP:0000509	Conjunctivitis
10804	GJB6	HP:0001805	Onychogryposis
10804	GJB6	HP:0001806	Onycholysis
10804	GJB6	HP:0011220	Prominent forehead
10804	GJB6	HP:0000572	Visual loss
10806	SDCCAG8	HP:0001162	Postaxial hand polydactyly
10806	SDCCAG8	HP:0003774	Stage 5 chronic kidney disease
10806	SDCCAG8	HP:0001256	Intellectual disability, mild
10806	SDCCAG8	HP:0001251	Ataxia
10806	SDCCAG8	HP:0001249	Intellectual disability
10806	SDCCAG8	HP:0001263	Global developmental delay
10806	SDCCAG8	HP:0006101	Finger syndactyly
10806	SDCCAG8	HP:0008736	Hypoplasia of penis
10806	SDCCAG8	HP:0008724	Hypoplasia of the ovary
10806	SDCCAG8	HP:0000083	Renal insufficiency
10806	SDCCAG8	HP:0000090	Nephronophthisis
10806	SDCCAG8	HP:0001395	Hepatic fibrosis
10806	SDCCAG8	HP:0000028	Cryptorchidism
10806	SDCCAG8	HP:0000007	Autosomal recessive inheritance
10806	SDCCAG8	HP:0000003	Multicystic kidney dysplasia
10806	SDCCAG8	HP:0002612	Congenital hepatic fibrosis
10806	SDCCAG8	HP:0000135	Hypogonadism
10806	SDCCAG8	HP:0007663	Reduced visual acuity
10806	SDCCAG8	HP:0000100	Nephrotic syndrome
10806	SDCCAG8	HP:0000110	Renal dysplasia
10806	SDCCAG8	HP:0000107	Renal cyst
10806	SDCCAG8	HP:0000104	Renal agenesis
10806	SDCCAG8	HP:0100543	Cognitive impairment
10806	SDCCAG8	HP:0002098	Respiratory distress
10806	SDCCAG8	HP:0010442	Polydactyly
10806	SDCCAG8	HP:0002167	Abnormality of speech or vocalization
10806	SDCCAG8	HP:0008209	Premature ovarian insufficiency
10806	SDCCAG8	HP:0010579	Cone-shaped epiphysis
10806	SDCCAG8	HP:0002230	Generalized hirsutism
10806	SDCCAG8	HP:0002205	Recurrent respiratory infections
10806	SDCCAG8	HP:0011950	Bronchiolitis
10806	SDCCAG8	HP:0010747	Medial flaring of the eyebrow
10806	SDCCAG8	HP:0012622	Chronic kidney disease
10806	SDCCAG8	HP:0000639	Nystagmus
10806	SDCCAG8	HP:0004322	Short stature
10806	SDCCAG8	HP:0004348	Abnormality of bone mineral density
10806	SDCCAG8	HP:0000822	Hypertension
10806	SDCCAG8	HP:0003241	External genital hypoplasia
10806	SDCCAG8	HP:0003202	Skeletal muscle atrophy
10806	SDCCAG8	HP:0007703	Abnormality of retinal pigmentation
10806	SDCCAG8	HP:0001513	Obesity
10806	SDCCAG8	HP:0000365	Hearing impairment
10806	SDCCAG8	HP:0000368	Low-set, posteriorly rotated ears
10806	SDCCAG8	HP:0000403	Recurrent otitis media
10806	SDCCAG8	HP:0000494	Downslanted palpebral fissures
10806	SDCCAG8	HP:0000470	Short neck
10806	SDCCAG8	HP:0000426	Prominent nasal bridge
10806	SDCCAG8	HP:0000518	Cataract
10806	SDCCAG8	HP:0000510	Rod-cone dystrophy
10806	SDCCAG8	HP:0000512	Abnormal electroretinogram
10806	SDCCAG8	HP:0000529	Progressive visual loss
10806	SDCCAG8	HP:0000505	Visual impairment
10806	SDCCAG8	HP:0000580	Pigmentary retinopathy
10806	SDCCAG8	HP:0000556	Retinal dystrophy
10806	SDCCAG8	HP:0000546	Retinal degeneration
10815	CPLX1	HP:0001177	Preaxial hand polydactyly
10815	CPLX1	HP:0001171	Split hand
10815	CPLX1	HP:0001166	Arachnodactyly
10815	CPLX1	HP:0025100	Abnormal hippocampus morphology
10815	CPLX1	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
10815	CPLX1	HP:0009918	Ectopia pupillae
10815	CPLX1	HP:0009890	High anterior hairline
10815	CPLX1	HP:0010864	Intellectual disability, severe
10815	CPLX1	HP:0008551	Microtia
10815	CPLX1	HP:0002421	Poor head control
10815	CPLX1	HP:0003745	Sporadic
10815	CPLX1	HP:0001290	Generalized hypotonia
10815	CPLX1	HP:0001272	Cerebellar atrophy
10815	CPLX1	HP:0001274	Agenesis of corpus callosum
10815	CPLX1	HP:0001270	Motor delay
10815	CPLX1	HP:0001288	Gait disturbance
10815	CPLX1	HP:0001256	Intellectual disability, mild
10815	CPLX1	HP:0001250	Seizure
10815	CPLX1	HP:0001252	Hypotonia
10815	CPLX1	HP:0001251	Ataxia
10815	CPLX1	HP:0001249	Intellectual disability
10815	CPLX1	HP:0001260	Dysarthria
10815	CPLX1	HP:0001263	Global developmental delay
10815	CPLX1	HP:0007385	Aplasia cutis congenita of scalp
10815	CPLX1	HP:0032388	Periventricular nodular heterotopia
10815	CPLX1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
10815	CPLX1	HP:0007359	Focal-onset seizure
10815	CPLX1	HP:0002540	Inability to walk
10815	CPLX1	HP:0002553	Highly arched eyebrow
10815	CPLX1	HP:0025373	Interictal EEG abnormality
10815	CPLX1	HP:0000077	Abnormality of the kidney
10815	CPLX1	HP:0000079	Abnormality of the urinary system
10815	CPLX1	HP:0000078	Abnormality of the genital system
10815	CPLX1	HP:0001385	Hip dysplasia
10815	CPLX1	HP:0000047	Hypospadias
10815	CPLX1	HP:0001362	Calvarial skull defect
10815	CPLX1	HP:0000028	Cryptorchidism
10815	CPLX1	HP:0008850	Severe postnatal growth retardation
10815	CPLX1	HP:0008830	Hypoplastic pubic rami
10815	CPLX1	HP:0001331	Absent septum pellucidum
10815	CPLX1	HP:0001344	Absent speech
10815	CPLX1	HP:0000007	Autosomal recessive inheritance
10815	CPLX1	HP:0000006	Autosomal dominant inheritance
10815	CPLX1	HP:0002650	Scoliosis
10815	CPLX1	HP:0000188	Short upper lip
10815	CPLX1	HP:0000159	Abnormal lip morphology
10815	CPLX1	HP:0000175	Cleft palate
10815	CPLX1	HP:0000153	Abnormality of the mouth
10815	CPLX1	HP:0000151	Aplasia of the uterus
10815	CPLX1	HP:0000119	Abnormality of the genitourinary system
10815	CPLX1	HP:0002750	Delayed skeletal maturation
10815	CPLX1	HP:0002719	Recurrent infections
10815	CPLX1	HP:0002715	Abnormality of the immune system
10815	CPLX1	HP:0002714	Downturned corners of mouth
10815	CPLX1	HP:0002721	Immunodeficiency
10815	CPLX1	HP:0002020	Gastroesophageal reflux
10815	CPLX1	HP:0003363	Abdominal situs inversus
10815	CPLX1	HP:0002011	Morphological central nervous system abnormality
10815	CPLX1	HP:0002007	Frontal bossing
10815	CPLX1	HP:0003312	Abnormal form of the vertebral bodies
10815	CPLX1	HP:0011800	Midface retrusion
10815	CPLX1	HP:0002069	Bilateral tonic-clonic seizure
10815	CPLX1	HP:0002057	Prominent glabella
10815	CPLX1	HP:0002144	Tethered cord
10815	CPLX1	HP:0003468	Abnormal vertebral morphology
10815	CPLX1	HP:0002123	Generalized myoclonic seizure
10815	CPLX1	HP:0002120	Cerebral cortical atrophy
10815	CPLX1	HP:0002119	Ventriculomegaly
10815	CPLX1	HP:0004794	Malrotation of small bowel
10815	CPLX1	HP:0002197	Generalized-onset seizure
10815	CPLX1	HP:0002162	Low posterior hairline
10815	CPLX1	HP:0011863	Abnormal sternal ossification
10815	CPLX1	HP:0033258	Sudden unexpected death in epilepsy
10815	CPLX1	HP:0003593	Infantile onset
10815	CPLX1	HP:0002205	Recurrent respiratory infections
10815	CPLX1	HP:0100790	Hernia
10815	CPLX1	HP:0200134	Epileptic encephalopathy
10815	CPLX1	HP:0011968	Feeding difficulties
10815	CPLX1	HP:0002389	Cavum septum pellucidum
10815	CPLX1	HP:0001028	Hemangioma
10815	CPLX1	HP:0002342	Intellectual disability, moderate
10815	CPLX1	HP:0002353	EEG abnormality
10815	CPLX1	HP:0010818	Generalized tonic seizure
10815	CPLX1	HP:0001080	Biliary tract abnormality
10815	CPLX1	HP:0007109	Periventricular cysts
10815	CPLX1	HP:0009778	Short thumb
10815	CPLX1	HP:0002312	Clumsiness
10815	CPLX1	HP:0006889	Intellectual disability, borderline
10815	CPLX1	HP:0006891	Thick cerebral cortex
10815	CPLX1	HP:0000639	Nystagmus
10815	CPLX1	HP:0000648	Optic atrophy
10815	CPLX1	HP:0000647	Sclerocornea
10815	CPLX1	HP:0000643	Blepharospasm
10815	CPLX1	HP:0000612	Iris coloboma
10815	CPLX1	HP:0000668	Hypodontia
10815	CPLX1	HP:0004322	Short stature
10815	CPLX1	HP:0030680	Abnormality of cardiovascular system morphology
10815	CPLX1	HP:0009193	Pseudoepiphyses of the metacarpals
10815	CPLX1	HP:0031936	Delayed ability to walk
10815	CPLX1	HP:0100021	Cerebral palsy
10815	CPLX1	HP:0100022	Abnormality of movement
10815	CPLX1	HP:0000765	Abnormal thorax morphology
10815	CPLX1	HP:0000750	Delayed speech and language development
10815	CPLX1	HP:0010109	Short hallux
10815	CPLX1	HP:0000776	Congenital diaphragmatic hernia
10815	CPLX1	HP:0003199	Decreased muscle mass
10815	CPLX1	HP:0000925	Abnormality of the vertebral column
10815	CPLX1	HP:0000902	Rib fusion
10815	CPLX1	HP:0004484	Craniofacial asymmetry
10815	CPLX1	HP:0004467	Preauricular pit
10815	CPLX1	HP:0000826	Precocious puberty
10815	CPLX1	HP:0045084	Limb myoclonus
10815	CPLX1	HP:0000954	Single transverse palmar crease
10815	CPLX1	HP:0000960	Sacral dimple
10815	CPLX1	HP:0000939	Osteoporosis
10815	CPLX1	HP:0000286	Epicanthus
10815	CPLX1	HP:0000288	Abnormality of the philtrum
10815	CPLX1	HP:0000268	Dolichocephaly
10815	CPLX1	HP:0002827	Hip dislocation
10815	CPLX1	HP:0002808	Kyphosis
10815	CPLX1	HP:0000238	Hydrocephalus
10815	CPLX1	HP:0000252	Microcephaly
10815	CPLX1	HP:0000219	Thin upper lip vermilion
10815	CPLX1	HP:0001558	Decreased fetal movement
10815	CPLX1	HP:0000202	Orofacial cleft
10815	CPLX1	HP:0000204	Cleft upper lip
10815	CPLX1	HP:0001508	Failure to thrive
10815	CPLX1	HP:0001519	Disproportionate tall stature
10815	CPLX1	HP:0001518	Small for gestational age
10815	CPLX1	HP:0001511	Intrauterine growth retardation
10815	CPLX1	HP:0001510	Growth delay
10815	CPLX1	HP:0011097	Epileptic spasm
10815	CPLX1	HP:0000384	Preauricular skin tag
10815	CPLX1	HP:0000377	Abnormal pinna morphology
10815	CPLX1	HP:0000389	Chronic otitis media
10815	CPLX1	HP:0005264	Abnormality of the gallbladder
10815	CPLX1	HP:0002948	Vertebral fusion
10815	CPLX1	HP:0000365	Hearing impairment
10815	CPLX1	HP:0000368	Low-set, posteriorly rotated ears
10815	CPLX1	HP:0001671	Abnormal cardiac septum morphology
10815	CPLX1	HP:0000343	Long philtrum
10815	CPLX1	HP:0000348	High forehead
10815	CPLX1	HP:0000347	Micrognathia
10815	CPLX1	HP:0032794	Myoclonic seizure
10815	CPLX1	HP:0000316	Hypertelorism
10815	CPLX1	HP:0002974	Radioulnar synostosis
10815	CPLX1	HP:0001654	Abnormal heart valve morphology
10815	CPLX1	HP:0000322	Short philtrum
10815	CPLX1	HP:0001629	Ventricular septal defect
10815	CPLX1	HP:0001631	Atrial septal defect
10815	CPLX1	HP:0011198	EEG with generalized epileptiform discharges
10815	CPLX1	HP:0011197	EEG with focal spike waves
10815	CPLX1	HP:0011171	Simple febrile seizure
10815	CPLX1	HP:0006655	Rib segmentation abnormalities
10815	CPLX1	HP:0000407	Sensorineural hearing impairment
10815	CPLX1	HP:0000405	Conductive hearing impairment
10815	CPLX1	HP:0000402	Stenosis of the external auditory canal
10815	CPLX1	HP:0000486	Strabismus
10815	CPLX1	HP:0000485	Megalocornea
10815	CPLX1	HP:0000494	Downslanted palpebral fissures
10815	CPLX1	HP:0000488	Retinopathy
10815	CPLX1	HP:0000465	Webbed neck
10815	CPLX1	HP:0000444	Convex nasal ridge
10815	CPLX1	HP:0000414	Bulbous nose
10815	CPLX1	HP:0001747	Accessory spleen
10815	CPLX1	HP:0001760	Abnormal foot morphology
10815	CPLX1	HP:0001762	Talipes equinovarus
10815	CPLX1	HP:0000431	Wide nasal bridge
10815	CPLX1	HP:0006703	Aplasia/Hypoplasia of the lungs
10815	CPLX1	HP:0006709	Aplasia/Hypoplasia of the nipples
10815	CPLX1	HP:0001845	Overlapping toe
10815	CPLX1	HP:0001841	Preaxial foot polydactyly
10815	CPLX1	HP:0001840	Metatarsus adductus
10815	CPLX1	HP:0000520	Proptosis
10815	CPLX1	HP:0000508	Ptosis
10815	CPLX1	HP:0001812	Hyperconvex fingernails
10815	CPLX1	HP:0000558	Rieger anomaly
10815	CPLX1	HP:0000574	Thick eyebrow
10841	FTCD	HP:0010904	Abnormal circulating histidine concentration
10841	FTCD	HP:0010864	Intellectual disability, severe
10841	FTCD	HP:0500170	Abnormal concentration of acylcarnitine in the urine
10841	FTCD	HP:0001249	Intellectual disability
10841	FTCD	HP:0000007	Autosomal recessive inheritance
10841	FTCD	HP:0003355	Aminoaciduria
10841	FTCD	HP:0004821	Hypersegmentation of neutrophil nuclei
10841	FTCD	HP:0032164	Increased blood folate concentration
10841	FTCD	HP:0003612	Positive ferric chloride test
10841	FTCD	HP:0001903	Anemia
10841	FTCD	HP:0011342	Mild global developmental delay
10841	FTCD	HP:0000750	Delayed speech and language development
10841	FTCD	HP:0000717	Autism
10841	FTCD	HP:0012758	Neurodevelopmental delay
10841	FTCD	HP:0001510	Growth delay
10841	FTCD	HP:0012379	Abnormal circulating enzyme concentration or activity
10841	FTCD	HP:0012335	Abnormality of folate metabolism
10841	FTCD	HP:0001631	Atrial septal defect
10841	FTCD	HP:0001889	Megaloblastic anemia
10842	PPP1R17	HP:0001114	Xanthelasma
10842	PPP1R17	HP:0010874	Tendon xanthomatosis
10842	PPP1R17	HP:0000007	Autosomal recessive inheritance
10842	PPP1R17	HP:0000006	Autosomal dominant inheritance
10842	PPP1R17	HP:0001084	Corneal arcus
10842	PPP1R17	HP:0003141	Increased LDL cholesterol concentration
10842	PPP1R17	HP:0001677	Coronary artery atherosclerosis
10844	TUBGCP2	HP:0002416	Subependymal cysts
10844	TUBGCP2	HP:0001257	Spasticity
10844	TUBGCP2	HP:0001348	Brisk reflexes
10844	TUBGCP2	HP:0032409	Subcortical band heterotopia
10844	TUBGCP2	HP:0000007	Autosomal recessive inheritance
10844	TUBGCP2	HP:0001302	Pachygyria
10844	TUBGCP2	HP:0006304	Widely-spaced incisors
10844	TUBGCP2	HP:0008936	Axial hypotonia
10844	TUBGCP2	HP:0011800	Midface retrusion
10844	TUBGCP2	HP:0002079	Hypoplasia of the corpus callosum
10844	TUBGCP2	HP:0003593	Infantile onset
10844	TUBGCP2	HP:0100704	Cerebral visual impairment
10844	TUBGCP2	HP:0000648	Optic atrophy
10844	TUBGCP2	HP:0000664	Synophrys
10844	TUBGCP2	HP:0000253	Progressive microcephaly
10844	TUBGCP2	HP:0000219	Thin upper lip vermilion
10844	TUBGCP2	HP:0000341	Narrow forehead
10844	TUBGCP2	HP:0000340	Sloping forehead
10844	TUBGCP2	HP:0000319	Smooth philtrum
10844	TUBGCP2	HP:0000327	Hypoplasia of the maxilla
10844	TUBGCP2	HP:0011182	Interictal epileptiform activity
10844	TUBGCP2	HP:0000414	Bulbous nose
10844	TUBGCP2	HP:0000411	Protruding ear
10844	TUBGCP2	HP:0000582	Upslanted palpebral fissure
10844	TUBGCP2	HP:0000574	Thick eyebrow
10845	CLPX	HP:0000006	Autosomal dominant inheritance
10845	CLPX	HP:0012187	Increased erythrocyte protoporphyrin concentration
10845	CLPX	HP:0003593	Infantile onset
10845	CLPX	HP:0000992	Cutaneous photosensitivity
10845	CLPX	HP:0001891	Iron deficiency anemia
10846	PDE10A	HP:0002487	Hyperkinetic movements
10846	PDE10A	HP:0001270	Motor delay
10846	PDE10A	HP:0001268	Mental deterioration
10846	PDE10A	HP:0001250	Seizure
10846	PDE10A	HP:0001249	Intellectual disability
10846	PDE10A	HP:0001260	Dysarthria
10846	PDE10A	HP:0010994	Abnormal corpus striatum morphology
10846	PDE10A	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
10846	PDE10A	HP:0000007	Autosomal recessive inheritance
10846	PDE10A	HP:0001337	Tremor
10846	PDE10A	HP:0000006	Autosomal dominant inheritance
10846	PDE10A	HP:0001300	Parkinsonism
10846	PDE10A	HP:0008936	Axial hypotonia
10846	PDE10A	HP:0031206	Striatal T2 hyperintensity
10846	PDE10A	HP:0002072	Chorea
10846	PDE10A	HP:0002194	Delayed gross motor development
10846	PDE10A	HP:0003593	Infantile onset
10846	PDE10A	HP:0011968	Feeding difficulties
10846	PDE10A	HP:0002359	Frequent falls
10846	PDE10A	HP:0003680	Nonprogressive
10846	PDE10A	HP:0002317	Unsteady gait
10846	PDE10A	HP:0100660	Dyskinesia
10846	PDE10A	HP:0002310	Orofacial dyskinesia
10846	PDE10A	HP:0002307	Drooling
10846	PDE10A	HP:0000739	Anxiety
10846	PDE10A	HP:0000726	Dementia
10846	PDE10A	HP:0011470	Nasogastric tube feeding in infancy
10846	PDE10A	HP:0100248	Hemiballismus
10846	PDE10A	HP:0012444	Brain atrophy
10847	SRCAP	HP:0001156	Brachydactyly
10847	SRCAP	HP:0002474	Expressive language delay
10847	SRCAP	HP:0003774	Stage 5 chronic kidney disease
10847	SRCAP	HP:0010957	Congenital posterior urethral valve
10847	SRCAP	HP:0010946	Dilatation of the renal pelvis
10847	SRCAP	HP:0025160	Abnormal temper tantrums
10847	SRCAP	HP:0008554	Cochlear malformation
10847	SRCAP	HP:0001256	Intellectual disability, mild
10847	SRCAP	HP:0001250	Seizure
10847	SRCAP	HP:0001252	Hypotonia
10847	SRCAP	HP:0001249	Intellectual disability
10847	SRCAP	HP:0001260	Dysarthria
10847	SRCAP	HP:0003879	Humeral pseudarthrosis
10847	SRCAP	HP:0001385	Hip dysplasia
10847	SRCAP	HP:0001388	Joint laxity
10847	SRCAP	HP:0001382	Joint hypermobility
10847	SRCAP	HP:0000047	Hypospadias
10847	SRCAP	HP:0000023	Inguinal hernia
10847	SRCAP	HP:0000028	Cryptorchidism
10847	SRCAP	HP:0001344	Absent speech
10847	SRCAP	HP:0000007	Autosomal recessive inheritance
10847	SRCAP	HP:0000006	Autosomal dominant inheritance
10847	SRCAP	HP:0002608	Celiac disease
10847	SRCAP	HP:0000154	Wide mouth
10847	SRCAP	HP:0006335	Persistence of primary teeth
10847	SRCAP	HP:0000121	Nephrocalcinosis
10847	SRCAP	HP:0000113	Polycystic kidney dysplasia
10847	SRCAP	HP:0000126	Hydronephrosis
10847	SRCAP	HP:0000107	Renal cyst
10847	SRCAP	HP:0000104	Renal agenesis
10847	SRCAP	HP:0002751	Kyphoscoliosis
10847	SRCAP	HP:0002750	Delayed skeletal maturation
10847	SRCAP	HP:0002714	Downturned corners of mouth
10847	SRCAP	HP:0002020	Gastroesophageal reflux
10847	SRCAP	HP:0002019	Constipation
10847	SRCAP	HP:0040288	Nasogastric tube feeding
10847	SRCAP	HP:0002136	Broad-based gait
10847	SRCAP	HP:0002162	Low posterior hairline
10847	SRCAP	HP:0009577	Short middle phalanx of the 2nd finger
10847	SRCAP	HP:0003593	Infantile onset
10847	SRCAP	HP:0100710	Impulsivity
10847	SRCAP	HP:0007018	Attention deficit hyperactivity disorder
10847	SRCAP	HP:0001047	Atopic dermatitis
10847	SRCAP	HP:0002342	Intellectual disability, moderate
10847	SRCAP	HP:0001007	Hirsutism
10847	SRCAP	HP:0009778	Short thumb
10847	SRCAP	HP:0009765	Low hanging columella
10847	SRCAP	HP:0004209	Clinodactyly of the 5th finger
10847	SRCAP	HP:0004220	Short middle phalanx of the 5th finger
10847	SRCAP	HP:0000629	Periorbital fullness
10847	SRCAP	HP:0010049	Short metacarpal
10847	SRCAP	HP:0010047	Short 5th metacarpal
10847	SRCAP	HP:0010034	Short 1st metacarpal
10847	SRCAP	HP:0000677	Oligodontia
10847	SRCAP	HP:0000691	Microdontia
10847	SRCAP	HP:0000670	Carious teeth
10847	SRCAP	HP:0011300	Broad fingertip
10847	SRCAP	HP:0011304	Broad thumb
10847	SRCAP	HP:0004322	Short stature
10847	SRCAP	HP:0003083	Dislocated radial head
10847	SRCAP	HP:0000807	Glandular hypospadias
10847	SRCAP	HP:0003037	Enlarged joints
10847	SRCAP	HP:0031936	Delayed ability to walk
10847	SRCAP	HP:0000739	Anxiety
10847	SRCAP	HP:0000736	Short attention span
10847	SRCAP	HP:0000750	Delayed speech and language development
10847	SRCAP	HP:0000718	Aggressive behavior
10847	SRCAP	HP:0000711	Restlessness
10847	SRCAP	HP:0000729	Autistic behavior
10847	SRCAP	HP:0000722	Compulsive behaviors
10847	SRCAP	HP:0000709	Psychosis
10847	SRCAP	HP:0005743	Avascular necrosis of the capital femoral epiphysis
10847	SRCAP	HP:0000914	Shield chest
10847	SRCAP	HP:0003189	Long nose
10847	SRCAP	HP:0012871	Varicocele
10847	SRCAP	HP:0000878	11 pairs of ribs
10847	SRCAP	HP:0000826	Precocious puberty
10847	SRCAP	HP:0011599	Mesocardia
10847	SRCAP	HP:0010252	Ivory epiphyses of the distal phalanges of the hand
10847	SRCAP	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
10847	SRCAP	HP:0000894	Short clavicles
10847	SRCAP	HP:0004554	Generalized hypertrichosis
10847	SRCAP	HP:0045025	Narrow palpebral fissure
10847	SRCAP	HP:0000286	Epicanthus
10847	SRCAP	HP:0000278	Retrognathia
10847	SRCAP	HP:0000256	Macrocephaly
10847	SRCAP	HP:0000276	Long face
10847	SRCAP	HP:0030084	Clinodactyly
10847	SRCAP	HP:0000252	Microcephaly
10847	SRCAP	HP:0000219	Thin upper lip vermilion
10847	SRCAP	HP:0000232	Everted lower lip vermilion
10847	SRCAP	HP:0001537	Umbilical hernia
10847	SRCAP	HP:0001518	Small for gestational age
10847	SRCAP	HP:0001510	Growth delay
10847	SRCAP	HP:0011098	Speech apraxia
10847	SRCAP	HP:0001611	Hypernasal speech
10847	SRCAP	HP:0000358	Posteriorly rotated ears
10847	SRCAP	HP:0000369	Low-set ears
10847	SRCAP	HP:0000343	Long philtrum
10847	SRCAP	HP:0001680	Coarctation of aorta
10847	SRCAP	HP:0000327	Hypoplasia of the maxilla
10847	SRCAP	HP:0000322	Short philtrum
10847	SRCAP	HP:0000325	Triangular face
10847	SRCAP	HP:0001620	High pitched voice
10847	SRCAP	HP:0001636	Tetralogy of Fallot
10847	SRCAP	HP:0001631	Atrial septal defect
10847	SRCAP	HP:0000303	Mandibular prognathia
10847	SRCAP	HP:0005301	Persistent left superior vena cava
10847	SRCAP	HP:0000403	Recurrent otitis media
10847	SRCAP	HP:0000405	Conductive hearing impairment
10847	SRCAP	HP:0000486	Strabismus
10847	SRCAP	HP:0000490	Deeply set eye
10847	SRCAP	HP:0000455	Broad nasal tip
10847	SRCAP	HP:0000470	Short neck
10847	SRCAP	HP:0000448	Prominent nose
10847	SRCAP	HP:0000446	Narrow nasal bridge
10847	SRCAP	HP:0000414	Bulbous nose
10847	SRCAP	HP:0000411	Protruding ear
10847	SRCAP	HP:0000431	Wide nasal bridge
10847	SRCAP	HP:0000430	Underdeveloped nasal alae
10847	SRCAP	HP:0000426	Prominent nasal bridge
10847	SRCAP	HP:0030424	Epididymal cyst
10847	SRCAP	HP:0005487	Prominent metopic ridge
10847	SRCAP	HP:0000527	Long eyelashes
10847	SRCAP	HP:0000593	Abnormal anterior chamber morphology
10847	SRCAP	HP:0011220	Prominent forehead
10847	SRCAP	HP:0012538	Gluten intolerance
10847	SRCAP	HP:0000540	Hypermetropia
10847	SRCAP	HP:0000545	Myopia
10861	SLC26A1	HP:0008672	Calcium oxalate nephrolithiasis
10861	SLC26A1	HP:0000074	Ureteropelvic junction obstruction
10861	SLC26A1	HP:0000007	Autosomal recessive inheritance
10861	SLC26A1	HP:0001919	Acute kidney injury
10861	SLC26A1	HP:0011463	Childhood onset
10861	SLC26A1	HP:0003159	Hyperoxaluria
10878	CFHR3	HP:0001269	Hemiparesis
10878	CFHR3	HP:0001250	Seizure
10878	CFHR3	HP:0001259	Coma
10878	CFHR3	HP:0000007	Autosomal recessive inheritance
10878	CFHR3	HP:0000006	Autosomal dominant inheritance
10878	CFHR3	HP:0002014	Diarrhea
10878	CFHR3	HP:0100543	Cognitive impairment
10878	CFHR3	HP:0100519	Anuria
10878	CFHR3	HP:0003584	Late onset
10878	CFHR3	HP:0002381	Aphasia
10878	CFHR3	HP:0005575	Hemolytic-uremic syndrome
10878	CFHR3	HP:0001981	Schistocytosis
10878	CFHR3	HP:0001945	Fever
10878	CFHR3	HP:0001923	Reticulocytosis
10878	CFHR3	HP:0001937	Microangiopathic hemolytic anemia
10878	CFHR3	HP:0000608	Macular degeneration
10878	CFHR3	HP:0001919	Acute kidney injury
10878	CFHR3	HP:0030499	Macular drusen
10878	CFHR3	HP:0012643	Foveal hypopigmentation
10878	CFHR3	HP:0003077	Hyperlipidemia
10878	CFHR3	HP:0003138	Increased blood urea nitrogen
10878	CFHR3	HP:0011506	Choroidal neovascularization
10878	CFHR3	HP:0000822	Hypertension
10878	CFHR3	HP:0003259	Elevated circulating creatinine concentration
10878	CFHR3	HP:0000979	Purpura
10878	CFHR3	HP:0025574	Macular hemorrhage
10878	CFHR3	HP:0031609	Geographic atrophy
10878	CFHR3	HP:0005356	Decreased circulating complement factor I concentration
10878	CFHR3	HP:0005369	Decreased circulating complement factor H concentration
10878	CFHR3	HP:0005421	Decreased circulating complement C3 concentration
10878	CFHR3	HP:0005416	Decreased circulating complement factor B concentration
10878	CFHR3	HP:0000529	Progressive visual loss
10878	CFHR3	HP:0001873	Thrombocytopenia
10891	PPARGC1A	HP:0001257	Spasticity
10891	PPARGC1A	HP:0007373	Motor neuron atrophy
10891	PPARGC1A	HP:0007354	Amyotrophic lateral sclerosis
10891	PPARGC1A	HP:0025425	Laryngospasm
10891	PPARGC1A	HP:0002795	Abnormal respiratory system physiology
10891	PPARGC1A	HP:0002017	Nausea and vomiting
10891	PPARGC1A	HP:0003324	Generalized muscle weakness
10891	PPARGC1A	HP:0002094	Dyspnea
10891	PPARGC1A	HP:0003394	Muscle spasm
10891	PPARGC1A	HP:0003470	Paralysis
10891	PPARGC1A	HP:0002180	Neurodegeneration
10891	PPARGC1A	HP:0000739	Anxiety
10891	PPARGC1A	HP:0000716	Depression
10891	PPARGC1A	HP:0000712	Emotional lability
10891	PPARGC1A	HP:0000713	Agitation
10891	PPARGC1A	HP:0003202	Skeletal muscle atrophy
10891	PPARGC1A	HP:0000217	Xerostomia
10891	PPARGC1A	HP:0002878	Respiratory failure
10891	PPARGC1A	HP:0012378	Fatigue
10891	PPARGC1A	HP:0030196	Fatigable weakness of respiratory muscles
10891	PPARGC1A	HP:0030195	Fatigable weakness of swallowing muscles
10891	PPARGC1A	HP:0030192	Fatigable weakness of bulbar muscles
10891	PPARGC1A	HP:0012531	Pain
10892	MALT1	HP:0000007	Autosomal recessive inheritance
10892	MALT1	HP:0012191	B-cell lymphoma
10892	MALT1	HP:0012123	Posterior uveitis
10892	MALT1	HP:0002750	Delayed skeletal maturation
10892	MALT1	HP:0002718	Recurrent bacterial infections
10892	MALT1	HP:0002716	Lymphadenopathy
10892	MALT1	HP:0002721	Immunodeficiency
10892	MALT1	HP:0002019	Constipation
10892	MALT1	HP:0002017	Nausea and vomiting
10892	MALT1	HP:0002027	Abdominal pain
10892	MALT1	HP:0002113	Pulmonary infiltrates
10892	MALT1	HP:0002205	Recurrent respiratory infections
10892	MALT1	HP:0100721	Mediastinal lymphadenopathy
10892	MALT1	HP:0000614	Abnormal nasolacrimal system morphology
10892	MALT1	HP:0001945	Fever
10892	MALT1	HP:0001903	Anemia
10892	MALT1	HP:0004429	Recurrent viral infections
10892	MALT1	HP:0000820	Abnormality of the thyroid gland
10892	MALT1	HP:0040088	Abnormal lymphocyte count
10892	MALT1	HP:0000975	Hyperhidrosis
10892	MALT1	HP:0000939	Osteoporosis
10892	MALT1	HP:0001510	Growth delay
10892	MALT1	HP:0012378	Fatigue
10892	MALT1	HP:0001824	Weight loss
10892	MALT1	HP:0000505	Visual impairment
10907	TXNL4A	HP:0000089	Renal hypoplasia
10907	TXNL4A	HP:0000023	Inguinal hernia
10907	TXNL4A	HP:0008872	Feeding difficulties in infancy
10907	TXNL4A	HP:0000007	Autosomal recessive inheritance
10907	TXNL4A	HP:0000193	Bifid uvula
10907	TXNL4A	HP:0000160	Narrow mouth
10907	TXNL4A	HP:0000175	Cleft palate
10907	TXNL4A	HP:0000174	Abnormal palate morphology
10907	TXNL4A	HP:0000122	Unilateral renal agenesis
10907	TXNL4A	HP:0004691	2-3 toe syndactyly
10907	TXNL4A	HP:0003577	Congenital onset
10907	TXNL4A	HP:0200138	Bilateral choanal atresia/stenosis
10907	TXNL4A	HP:0000652	Lower eyelid coloboma
10907	TXNL4A	HP:0004322	Short stature
10907	TXNL4A	HP:0012745	Short palpebral fissure
10907	TXNL4A	HP:0003196	Short nose
10907	TXNL4A	HP:0004502	Bilateral choanal atresia
10907	TXNL4A	HP:0000233	Thin vermilion border
10907	TXNL4A	HP:0000204	Cleft upper lip
10907	TXNL4A	HP:0000384	Preauricular skin tag
10907	TXNL4A	HP:0000365	Hearing impairment
10907	TXNL4A	HP:0001671	Abnormal cardiac septum morphology
10907	TXNL4A	HP:0000338	Hypomimic face
10907	TXNL4A	HP:0000347	Micrognathia
10907	TXNL4A	HP:0000316	Hypertelorism
10907	TXNL4A	HP:0000322	Short philtrum
10907	TXNL4A	HP:0001629	Ventricular septal defect
10907	TXNL4A	HP:0001631	Atrial septal defect
10907	TXNL4A	HP:0000303	Mandibular prognathia
10907	TXNL4A	HP:0000405	Conductive hearing impairment
10907	TXNL4A	HP:0000478	Abnormality of the eye
10907	TXNL4A	HP:0000453	Choanal atresia
10907	TXNL4A	HP:0000411	Protruding ear
10907	TXNL4A	HP:0000431	Wide nasal bridge
10907	TXNL4A	HP:0000430	Underdeveloped nasal alae
10907	TXNL4A	HP:0000426	Prominent nasal bridge
10907	TXNL4A	HP:0000504	Abnormality of vision
10907	TXNL4A	HP:0000581	Blepharophimosis
10908	PNPLA6	HP:0001155	Abnormality of the hand
10908	PNPLA6	HP:0001156	Brachydactyly
10908	PNPLA6	HP:0001161	Hand polydactyly
10908	PNPLA6	HP:0001135	Chorioretinal dystrophy
10908	PNPLA6	HP:0002460	Distal muscle weakness
10908	PNPLA6	HP:0007263	Spinocerebellar atrophy
10908	PNPLA6	HP:0009896	Abnormal antitragus morphology
10908	PNPLA6	HP:0001272	Cerebellar atrophy
10908	PNPLA6	HP:0001288	Gait disturbance
10908	PNPLA6	HP:0001284	Areflexia
10908	PNPLA6	HP:0001256	Intellectual disability, mild
10908	PNPLA6	HP:0001252	Hypotonia
10908	PNPLA6	HP:0001251	Ataxia
10908	PNPLA6	HP:0001249	Intellectual disability
10908	PNPLA6	HP:0001265	Hyporeflexia
10908	PNPLA6	HP:0001258	Spastic paraplegia
10908	PNPLA6	HP:0001257	Spasticity
10908	PNPLA6	HP:0002558	Supernumerary nipple
10908	PNPLA6	HP:0006101	Finger syndactyly
10908	PNPLA6	HP:0008736	Hypoplasia of penis
10908	PNPLA6	HP:0000083	Renal insufficiency
10908	PNPLA6	HP:0000044	Hypogonadotropic hypogonadism
10908	PNPLA6	HP:0000046	Small scrotum
10908	PNPLA6	HP:0000054	Micropenis
10908	PNPLA6	HP:0001347	Hyperreflexia
10908	PNPLA6	HP:0000028	Cryptorchidism
10908	PNPLA6	HP:0000007	Autosomal recessive inheritance
10908	PNPLA6	HP:0002612	Congenital hepatic fibrosis
10908	PNPLA6	HP:0000144	Decreased fertility
10908	PNPLA6	HP:0000135	Hypogonadism
10908	PNPLA6	HP:0007598	Bilateral single transverse palmar creases
10908	PNPLA6	HP:0005978	Type II diabetes mellitus
10908	PNPLA6	HP:0002080	Intention tremor
10908	PNPLA6	HP:0002066	Gait ataxia
10908	PNPLA6	HP:0002061	Lower limb spasticity
10908	PNPLA6	HP:0010442	Polydactyly
10908	PNPLA6	HP:0003477	Peripheral axonal neuropathy
10908	PNPLA6	HP:0003487	Babinski sign
10908	PNPLA6	HP:0002127	Abnormal upper motor neuron morphology
10908	PNPLA6	HP:0002168	Scanning speech
10908	PNPLA6	HP:0002167	Abnormality of speech or vocalization
10908	PNPLA6	HP:0007020	Progressive spastic paraplegia
10908	PNPLA6	HP:0007002	Motor axonal neuropathy
10908	PNPLA6	HP:0003510	Severe short stature
10908	PNPLA6	HP:0003693	Distal amyotrophy
10908	PNPLA6	HP:0003676	Progressive
10908	PNPLA6	HP:0009830	Peripheral neuropathy
10908	PNPLA6	HP:0100627	Displacement of the urethral meatus
10908	PNPLA6	HP:0003621	Juvenile onset
10908	PNPLA6	HP:0004209	Clinodactyly of the 5th finger
10908	PNPLA6	HP:0006827	Atrophy of the spinal cord
10908	PNPLA6	HP:0000639	Nystagmus
10908	PNPLA6	HP:0000648	Optic atrophy
10908	PNPLA6	HP:0000613	Photophobia
10908	PNPLA6	HP:0000612	Iris coloboma
10908	PNPLA6	HP:0009053	Distal lower limb muscle weakness
10908	PNPLA6	HP:0009055	Generalized limb muscle atrophy
10908	PNPLA6	HP:0004322	Short stature
10908	PNPLA6	HP:0030680	Abnormality of cardiovascular system morphology
10908	PNPLA6	HP:0004374	Hemiplegia/hemiparesis
10908	PNPLA6	HP:0000751	Personality changes
10908	PNPLA6	HP:0000771	Gynecomastia
10908	PNPLA6	HP:0000726	Dementia
10908	PNPLA6	HP:0000708	Atypical behavior
10908	PNPLA6	HP:0000864	Abnormality of the hypothalamus-pituitary axis
10908	PNPLA6	HP:0000824	Decreased response to growth hormone stimulation test
10908	PNPLA6	HP:0000823	Delayed puberty
10908	PNPLA6	HP:0004523	Long eyebrows
10908	PNPLA6	HP:0008070	Sparse hair
10908	PNPLA6	HP:0007703	Abnormality of retinal pigmentation
10908	PNPLA6	HP:0000286	Epicanthus
10908	PNPLA6	HP:0001596	Alopecia
10908	PNPLA6	HP:0000248	Brachycephaly
10908	PNPLA6	HP:0001518	Small for gestational age
10908	PNPLA6	HP:0001513	Obesity
10908	PNPLA6	HP:0007818	Central heterochromia
10908	PNPLA6	HP:0000368	Low-set, posteriorly rotated ears
10908	PNPLA6	HP:0000407	Sensorineural hearing impairment
10908	PNPLA6	HP:0000486	Strabismus
10908	PNPLA6	HP:0000518	Cataract
10908	PNPLA6	HP:0000512	Abnormal electroretinogram
10908	PNPLA6	HP:0000529	Progressive visual loss
10908	PNPLA6	HP:0000527	Long eyelashes
10908	PNPLA6	HP:0030339	Decreased circulating gonadotropin concentration
10908	PNPLA6	HP:0000580	Pigmentary retinopathy
10908	PNPLA6	HP:0000556	Retinal dystrophy
10908	PNPLA6	HP:0000533	Chorioretinal atrophy
10908	PNPLA6	HP:0000546	Retinal degeneration
10913	EDAR	HP:0001106	Periorbital hyperpigmentation
10913	EDAR	HP:0001231	Abnormal fingernail morphology
10913	EDAR	HP:0000007	Autosomal recessive inheritance
10913	EDAR	HP:0000006	Autosomal dominant inheritance
10913	EDAR	HP:0000164	Abnormality of the dentition
10913	EDAR	HP:0006323	Premature loss of primary teeth
10913	EDAR	HP:0007607	Hypohidrotic ectodermal dysplasia
10913	EDAR	HP:0002007	Frontal bossing
10913	EDAR	HP:0002047	Malignant hyperthermia
10913	EDAR	HP:0002046	Heat intolerance
10913	EDAR	HP:0002217	Slow-growing hair
10913	EDAR	HP:0002231	Sparse body hair
10913	EDAR	HP:0002213	Fine hair
10913	EDAR	HP:0008388	Abnormal toenail morphology
10913	EDAR	HP:0001000	Abnormality of skin pigmentation
10913	EDAR	HP:0010803	Everted upper lip vermilion
10913	EDAR	HP:0000607	Periorbital wrinkles
10913	EDAR	HP:0000698	Conical tooth
10913	EDAR	HP:0000674	Anodontia
10913	EDAR	HP:0000677	Oligodontia
10913	EDAR	HP:0000691	Microdontia
10913	EDAR	HP:0000685	Hypoplasia of teeth
10913	EDAR	HP:0000653	Sparse eyelashes
10913	EDAR	HP:0000668	Hypodontia
10913	EDAR	HP:0011463	Childhood onset
10913	EDAR	HP:0045075	Sparse eyebrow
10913	EDAR	HP:0000958	Dry skin
10913	EDAR	HP:0000970	Anhidrosis
10913	EDAR	HP:0000968	Ectodermal dysplasia
10913	EDAR	HP:0000964	Eczema
10913	EDAR	HP:0000966	Hypohidrosis
10913	EDAR	HP:0000963	Thin skin
10913	EDAR	HP:0008070	Sparse hair
10913	EDAR	HP:0001595	Abnormal hair morphology
10913	EDAR	HP:0001596	Alopecia
10913	EDAR	HP:0000232	Everted lower lip vermilion
10913	EDAR	HP:0006482	Abnormality of dental morphology
10913	EDAR	HP:0005280	Depressed nasal bridge
10913	EDAR	HP:0012471	Thick vermilion border
10913	EDAR	HP:0000457	Depressed nasal ridge
10913	EDAR	HP:0001807	Ridged nail
10913	EDAR	HP:0011220	Prominent forehead
10916	MAGED2	HP:0000103	Polyuria
10916	MAGED2	HP:0001419	X-linked recessive inheritance
10916	MAGED2	HP:0002150	Hypercalciuria
10916	MAGED2	HP:0003113	Hypochloremia
10916	MAGED2	HP:0000848	Increased circulating renin level
10916	MAGED2	HP:0001561	Polyhydramnios
10916	MAGED2	HP:0001563	Fetal polyuria
10916	MAGED2	HP:0002902	Hyponatremia
10916	MAGED2	HP:0002900	Hypokalemia
10916	MAGED2	HP:0001622	Premature birth
10916	MAGED2	HP:0012408	Medullary nephrocalcinosis
10935	PRDX3	HP:0001152	Saccadic smooth pursuit
10935	PRDX3	HP:0001272	Cerebellar atrophy
10935	PRDX3	HP:0001260	Dysarthria
10935	PRDX3	HP:0007366	Atrophy/Degeneration affecting the brainstem
10935	PRDX3	HP:0007338	Hypermetric saccades
10935	PRDX3	HP:0000007	Autosomal recessive inheritance
10935	PRDX3	HP:0000006	Autosomal dominant inheritance
10935	PRDX3	HP:0002015	Dysphagia
10935	PRDX3	HP:0002067	Bradykinesia
10935	PRDX3	HP:0002066	Gait ataxia
10935	PRDX3	HP:0002070	Limb ataxia
10935	PRDX3	HP:0003474	Somatic sensory dysfunction
10935	PRDX3	HP:0002174	Postural tremor
10935	PRDX3	HP:0003621	Juvenile onset
10935	PRDX3	HP:0000640	Gaze-evoked nystagmus
10935	PRDX3	HP:0011462	Young adult onset
10935	PRDX3	HP:0040129	Abnormal nerve conduction velocity
10935	PRDX3	HP:0045084	Limb myoclonus
10935	PRDX3	HP:0034327	Posterior corneal stroma punctiform multicolored opacities
10935	PRDX3	HP:0000338	Hypomimic face
10935	PRDX3	HP:0000473	Torticollis
10935	PRDX3	HP:0000508	Ptosis
10939	AFG3L2	HP:0002497	Spastic ataxia
10939	AFG3L2	HP:0002464	Spastic dysarthria
10939	AFG3L2	HP:0002460	Distal muscle weakness
10939	AFG3L2	HP:0002451	Limb dystonia
10939	AFG3L2	HP:0001272	Cerebellar atrophy
10939	AFG3L2	HP:0001256	Intellectual disability, mild
10939	AFG3L2	HP:0001251	Ataxia
10939	AFG3L2	HP:0001260	Dysarthria
10939	AFG3L2	HP:0001257	Spasticity
10939	AFG3L2	HP:0007340	Lower limb muscle weakness
10939	AFG3L2	HP:0001332	Dystonia
10939	AFG3L2	HP:0000007	Autosomal recessive inheritance
10939	AFG3L2	HP:0000006	Autosomal dominant inheritance
10939	AFG3L2	HP:0001336	Myoclonus
10939	AFG3L2	HP:0001310	Dysmetria
10939	AFG3L2	HP:0001321	Cerebellar hypoplasia
10939	AFG3L2	HP:0001300	Parkinsonism
10939	AFG3L2	HP:0007663	Reduced visual acuity
10939	AFG3L2	HP:0007641	Dyschromatopsia
10939	AFG3L2	HP:0002015	Dysphagia
10939	AFG3L2	HP:0100543	Cognitive impairment
10939	AFG3L2	HP:0002069	Bilateral tonic-clonic seizure
10939	AFG3L2	HP:0002066	Gait ataxia
10939	AFG3L2	HP:0002063	Rigidity
10939	AFG3L2	HP:0002075	Dysdiadochokinesis
10939	AFG3L2	HP:0002070	Limb ataxia
10939	AFG3L2	HP:0003383	Onion bulb formation
10939	AFG3L2	HP:0003477	Peripheral axonal neuropathy
10939	AFG3L2	HP:0003474	Somatic sensory dysfunction
10939	AFG3L2	HP:0003487	Babinski sign
10939	AFG3L2	HP:0002123	Generalized myoclonic seizure
10939	AFG3L2	HP:0011922	Abnormal activity of mitochondrial respiratory chain
10939	AFG3L2	HP:0003593	Infantile onset
10939	AFG3L2	HP:0008316	Abnormal mitochondria in muscle tissue
10939	AFG3L2	HP:0002395	Lower limb hyperreflexia
10939	AFG3L2	HP:0003693	Distal amyotrophy
10939	AFG3L2	HP:0003676	Progressive
10939	AFG3L2	HP:0002353	EEG abnormality
10939	AFG3L2	HP:0002354	Memory impairment
10939	AFG3L2	HP:0002346	Head tremor
10939	AFG3L2	HP:0003677	Slowly progressive
10939	AFG3L2	HP:0002313	Spastic paraparesis
10939	AFG3L2	HP:0007141	Sensorimotor neuropathy
10939	AFG3L2	HP:0007108	Demyelinating peripheral neuropathy
10939	AFG3L2	HP:0003621	Juvenile onset
10939	AFG3L2	HP:0006895	Lower limb hypertonia
10939	AFG3L2	HP:0000640	Gaze-evoked nystagmus
10939	AFG3L2	HP:0000639	Nystagmus
10939	AFG3L2	HP:0000648	Optic atrophy
10939	AFG3L2	HP:0000641	Dysmetric saccades
10939	AFG3L2	HP:0000613	Photophobia
10939	AFG3L2	HP:0000657	Oculomotor apraxia
10939	AFG3L2	HP:0000716	Depression
10939	AFG3L2	HP:0000708	Atypical behavior
10939	AFG3L2	HP:0030586	Abnormal Ishihara plate test
10939	AFG3L2	HP:0011463	Childhood onset
10939	AFG3L2	HP:0011462	Young adult onset
10939	AFG3L2	HP:0003200	Ragged-red muscle fibers
10939	AFG3L2	HP:0012240	Increased intramyocellular lipid droplets
10939	AFG3L2	HP:0030186	Kinetic tremor
10939	AFG3L2	HP:0000514	Slow saccadic eye movements
10939	AFG3L2	HP:0000508	Ptosis
10939	AFG3L2	HP:0000597	Ophthalmoparesis
10939	AFG3L2	HP:0000543	Optic disc pallor
10940	POP1	HP:0001156	Brachydactyly
10940	POP1	HP:0100864	Short femoral neck
10940	POP1	HP:0008802	Hypoplasia of the femoral head
10940	POP1	HP:0001371	Flexion contracture
10940	POP1	HP:0002680	J-shaped sella turcica
10940	POP1	HP:0008824	Hypoplastic iliac body
10940	POP1	HP:0002673	Coxa valga
10940	POP1	HP:0000007	Autosomal recessive inheritance
10940	POP1	HP:0000158	Macroglossia
10940	POP1	HP:0002750	Delayed skeletal maturation
10940	POP1	HP:0003307	Hyperlordosis
10940	POP1	HP:0003300	Ovoid vertebral bodies
10940	POP1	HP:0011800	Midface retrusion
10940	POP1	HP:0003423	Thoracolumbar kyphoscoliosis
10940	POP1	HP:0002164	Nail dysplasia
10940	POP1	HP:0003577	Congenital onset
10940	POP1	HP:0010646	Cervical spine instability
10940	POP1	HP:0008444	Posterior wedging of vertebral bodies
10940	POP1	HP:0000668	Hypodontia
10940	POP1	HP:0004322	Short stature
10940	POP1	HP:0000914	Shield chest
10940	POP1	HP:0004482	Relative macrocephaly
10940	POP1	HP:0100255	Metaphyseal dysplasia
10940	POP1	HP:0008070	Sparse hair
10940	POP1	HP:0002812	Coxa vara
10940	POP1	HP:0001511	Intrauterine growth retardation
10940	POP1	HP:0002967	Cubitus valgus
10940	POP1	HP:0001792	Small nail
10940	POP1	HP:0000470	Short neck
10943	MSL3	HP:0001181	Adducted thumb
10943	MSL3	HP:0003764	Nevus
10943	MSL3	HP:0001290	Generalized hypotonia
10943	MSL3	HP:0001250	Seizure
10943	MSL3	HP:0001249	Intellectual disability
10943	MSL3	HP:0001263	Global developmental delay
10943	MSL3	HP:0001344	Absent speech
10943	MSL3	HP:0001423	X-linked dominant inheritance
10943	MSL3	HP:0002714	Downturned corners of mouth
10943	MSL3	HP:0002020	Gastroesophageal reflux
10943	MSL3	HP:0002119	Ventriculomegaly
10943	MSL3	HP:0002191	Progressive spasticity
10943	MSL3	HP:0011968	Feeding difficulties
10943	MSL3	HP:0002395	Lower limb hyperreflexia
10943	MSL3	HP:0001028	Hemangioma
10943	MSL3	HP:0010804	Tented upper lip vermilion
10943	MSL3	HP:0004279	Short palm
10943	MSL3	HP:0001998	Neonatal hypoglycemia
10943	MSL3	HP:0031936	Delayed ability to walk
10943	MSL3	HP:0100022	Abnormality of movement
10943	MSL3	HP:0000750	Delayed speech and language development
10943	MSL3	HP:0012811	Wide nasal ridge
10943	MSL3	HP:0000826	Precocious puberty
10943	MSL3	HP:0000954	Single transverse palmar crease
10943	MSL3	HP:0000286	Epicanthus
10943	MSL3	HP:0000278	Retrognathia
10943	MSL3	HP:0000268	Dolichocephaly
10943	MSL3	HP:0012385	Camptodactyly
10943	MSL3	HP:0000384	Preauricular skin tag
10943	MSL3	HP:0000377	Abnormal pinna morphology
10943	MSL3	HP:0000365	Hearing impairment
10943	MSL3	HP:0000369	Low-set ears
10943	MSL3	HP:0000319	Smooth philtrum
10943	MSL3	HP:0000494	Downslanted palpebral fissures
10943	MSL3	HP:0000490	Deeply set eye
10943	MSL3	HP:0000463	Anteverted nares
10943	MSL3	HP:0012450	Chronic constipation
10943	MSL3	HP:0000470	Short neck
10943	MSL3	HP:0001773	Short foot
10943	MSL3	HP:0001769	Broad foot
10943	MSL3	HP:0000452	Choanal stenosis
10943	MSL3	HP:0000506	Telecanthus
10978	CLP1	HP:0001182	Tapered finger
10978	CLP1	HP:0010862	Delayed fine motor development
10978	CLP1	HP:0009879	Simplified gyral pattern
10978	CLP1	HP:0002421	Poor head control
10978	CLP1	HP:0001298	Encephalopathy
10978	CLP1	HP:0001290	Generalized hypotonia
10978	CLP1	HP:0001276	Hypertonia
10978	CLP1	HP:0001250	Seizure
10978	CLP1	HP:0001249	Intellectual disability
10978	CLP1	HP:0001263	Global developmental delay
10978	CLP1	HP:0001257	Spasticity
10978	CLP1	HP:0002538	Abnormal cerebral cortex morphology
10978	CLP1	HP:0002553	Highly arched eyebrow
10978	CLP1	HP:0002509	Limb hypertonia
10978	CLP1	HP:0001347	Hyperreflexia
10978	CLP1	HP:0000028	Cryptorchidism
10978	CLP1	HP:0001344	Absent speech
10978	CLP1	HP:0000007	Autosomal recessive inheritance
10978	CLP1	HP:0008936	Axial hypotonia
10978	CLP1	HP:0025405	Visual fixation instability
10978	CLP1	HP:0002751	Kyphoscoliosis
10978	CLP1	HP:0002020	Gastroesophageal reflux
10978	CLP1	HP:0002019	Constipation
10978	CLP1	HP:0003396	Syringomyelia
10978	CLP1	HP:0002079	Hypoplasia of the corpus callosum
10978	CLP1	HP:0002120	Cerebral cortical atrophy
10978	CLP1	HP:0002119	Ventriculomegaly
10978	CLP1	HP:0002194	Delayed gross motor development
10978	CLP1	HP:0003593	Infantile onset
10978	CLP1	HP:0100704	Cerebral visual impairment
10978	CLP1	HP:0002280	Enlarged cisterna magna
10978	CLP1	HP:0011968	Feeding difficulties
10978	CLP1	HP:0002363	Abnormal brainstem morphology
10978	CLP1	HP:0007141	Sensorimotor neuropathy
10978	CLP1	HP:0009765	Low hanging columella
10978	CLP1	HP:0000639	Nystagmus
10978	CLP1	HP:0000637	Long palpebral fissure
10978	CLP1	HP:0000648	Optic atrophy
10978	CLP1	HP:0000687	Widely spaced teeth
10978	CLP1	HP:0000664	Synophrys
10978	CLP1	HP:0000737	Irritability
10978	CLP1	HP:0000750	Delayed speech and language development
10978	CLP1	HP:0003196	Short nose
10978	CLP1	HP:0034295	Reduced cerebral white matter volume
10978	CLP1	HP:0000253	Progressive microcephaly
10978	CLP1	HP:0000252	Microcephaly
10978	CLP1	HP:0000219	Thin upper lip vermilion
10978	CLP1	HP:0000218	High palate
10978	CLP1	HP:0001510	Growth delay
10978	CLP1	HP:0000341	Narrow forehead
10978	CLP1	HP:0000486	Strabismus
10978	CLP1	HP:0012448	Delayed myelination
10978	CLP1	HP:0000470	Short neck
10978	CLP1	HP:0000414	Bulbous nose
10978	CLP1	HP:0000431	Wide nasal bridge
10978	CLP1	HP:0000430	Underdeveloped nasal alae
10978	CLP1	HP:0000527	Long eyelashes
10978	CLP1	HP:0000520	Proptosis
10978	CLP1	HP:0000505	Visual impairment
10978	CLP1	HP:0000565	Esotropia
10978	CLP1	HP:0000540	Hypermetropia
10982	MAPRE2	HP:0001182	Tapered finger
10982	MAPRE2	HP:0009909	Uplifted earlobe
10982	MAPRE2	HP:0008572	External ear malformation
10982	MAPRE2	HP:0008551	Microtia
10982	MAPRE2	HP:0001290	Generalized hypotonia
10982	MAPRE2	HP:0100807	Long fingers
10982	MAPRE2	HP:0001270	Motor delay
10982	MAPRE2	HP:0001250	Seizure
10982	MAPRE2	HP:0001252	Hypotonia
10982	MAPRE2	HP:0001249	Intellectual disability
10982	MAPRE2	HP:0001263	Global developmental delay
10982	MAPRE2	HP:0007400	Irregular hyperpigmentation
10982	MAPRE2	HP:0000070	Ureterocele
10982	MAPRE2	HP:0000046	Small scrotum
10982	MAPRE2	HP:0000045	Abnormality of the scrotum
10982	MAPRE2	HP:0000047	Hypospadias
10982	MAPRE2	HP:0000023	Inguinal hernia
10982	MAPRE2	HP:0000028	Cryptorchidism
10982	MAPRE2	HP:0007522	Increased number of skin folds
10982	MAPRE2	HP:0000006	Autosomal dominant inheritance
10982	MAPRE2	HP:0000160	Narrow mouth
10982	MAPRE2	HP:0000175	Cleft palate
10982	MAPRE2	HP:0004691	2-3 toe syndactyly
10982	MAPRE2	HP:0100560	Upper limb asymmetry
10982	MAPRE2	HP:0100559	Lower limb asymmetry
10982	MAPRE2	HP:0002079	Hypoplasia of the corpus callosum
10982	MAPRE2	HP:0034400	Circumferential skin creases on extremities
10982	MAPRE2	HP:0002119	Ventriculomegaly
10982	MAPRE2	HP:0003577	Congenital onset
10982	MAPRE2	HP:0002230	Generalized hirsutism
10982	MAPRE2	HP:0001072	Thickened skin
10982	MAPRE2	HP:0004209	Clinodactyly of the 5th finger
10982	MAPRE2	HP:0004279	Short palm
10982	MAPRE2	HP:0000691	Microdontia
10982	MAPRE2	HP:0000670	Carious teeth
10982	MAPRE2	HP:0000664	Synophrys
10982	MAPRE2	HP:0004322	Short stature
10982	MAPRE2	HP:0003011	Abnormality of the musculature
10982	MAPRE2	HP:0012745	Short palpebral fissure
10982	MAPRE2	HP:0000767	Pectus excavatum
10982	MAPRE2	HP:0000750	Delayed speech and language development
10982	MAPRE2	HP:0000969	Edema
10982	MAPRE2	HP:0000286	Epicanthus
10982	MAPRE2	HP:0000294	Low anterior hairline
10982	MAPRE2	HP:0000276	Long face
10982	MAPRE2	HP:0000271	Abnormality of the face
10982	MAPRE2	HP:0000252	Microcephaly
10982	MAPRE2	HP:0000219	Thin upper lip vermilion
10982	MAPRE2	HP:0001537	Umbilical hernia
10982	MAPRE2	HP:0012368	Flat face
10982	MAPRE2	HP:0000396	Overfolded helix
10982	MAPRE2	HP:0000358	Posteriorly rotated ears
10982	MAPRE2	HP:0000369	Low-set ears
10982	MAPRE2	HP:0000368	Low-set, posteriorly rotated ears
10982	MAPRE2	HP:0000343	Long philtrum
10982	MAPRE2	HP:0000347	Micrognathia
10982	MAPRE2	HP:0000316	Hypertelorism
10982	MAPRE2	HP:0001635	Congestive heart failure
10982	MAPRE2	HP:0006610	Wide intermamillary distance
10982	MAPRE2	HP:0005280	Depressed nasal bridge
10982	MAPRE2	HP:0000486	Strabismus
10982	MAPRE2	HP:0000482	Microcornea
10982	MAPRE2	HP:0000494	Downslanted palpebral fissures
10982	MAPRE2	HP:0000488	Retinopathy
10982	MAPRE2	HP:0000475	Broad neck
10982	MAPRE2	HP:0000470	Short neck
10982	MAPRE2	HP:0001763	Pes planus
10982	MAPRE2	HP:0000431	Wide nasal bridge
10982	MAPRE2	HP:0006768	Localized neuroblastoma
10982	MAPRE2	HP:0000508	Ptosis
10982	MAPRE2	HP:0000582	Upslanted palpebral fissure
10982	MAPRE2	HP:0000581	Blepharophimosis
10982	MAPRE2	HP:0000568	Microphthalmia
10984	KCNQ1OT1	HP:0002475	Myelomeningocele
10984	KCNQ1OT1	HP:0007328	Impaired pain sensation
10984	KCNQ1OT1	HP:0001256	Intellectual disability, mild
10984	KCNQ1OT1	HP:0000076	Vesicoureteral reflux
10984	KCNQ1OT1	HP:0000023	Inguinal hernia
10984	KCNQ1OT1	HP:0000028	Cryptorchidism
10984	KCNQ1OT1	HP:0002667	Nephroblastoma
10984	KCNQ1OT1	HP:0000006	Autosomal dominant inheritance
10984	KCNQ1OT1	HP:0001305	Dandy-Walker malformation
10984	KCNQ1OT1	HP:0002650	Scoliosis
10984	KCNQ1OT1	HP:0000164	Abnormality of the dentition
10984	KCNQ1OT1	HP:0000158	Macroglossia
10984	KCNQ1OT1	HP:0000150	Gonadoblastoma
10984	KCNQ1OT1	HP:0006277	Pancreatic hyperplasia
10984	KCNQ1OT1	HP:0000121	Nephrocalcinosis
10984	KCNQ1OT1	HP:0000105	Enlarged kidney
10984	KCNQ1OT1	HP:0011800	Midface retrusion
10984	KCNQ1OT1	HP:0008186	Adrenocortical cytomegaly
10984	KCNQ1OT1	HP:0002240	Hepatomegaly
10984	KCNQ1OT1	HP:0001052	Nevus flammeus
10984	KCNQ1OT1	HP:0008523	Posterior helix pit
10984	KCNQ1OT1	HP:0032165	Placental mesenchymal dysplasia
10984	KCNQ1OT1	HP:0001998	Neonatal hypoglycemia
10984	KCNQ1OT1	HP:0005616	Accelerated skeletal maturation
10984	KCNQ1OT1	HP:0030680	Abnormality of cardiovascular system morphology
10984	KCNQ1OT1	HP:0000803	Renal cortical cysts
10984	KCNQ1OT1	HP:0000787	Nephrolithiasis
10984	KCNQ1OT1	HP:0003247	Overgrowth of external genitalia
10984	KCNQ1OT1	HP:0000280	Coarse facial features
10984	KCNQ1OT1	HP:0000269	Prominent occiput
10984	KCNQ1OT1	HP:0000239	Large fontanelles
10984	KCNQ1OT1	HP:0002884	Hepatoblastoma
10984	KCNQ1OT1	HP:0001548	Overgrowth
10984	KCNQ1OT1	HP:0001555	Asymmetry of the thorax
10984	KCNQ1OT1	HP:0001528	Hemihypertrophy
10984	KCNQ1OT1	HP:0001540	Diastasis recti
10984	KCNQ1OT1	HP:0001539	Omphalocele
10984	KCNQ1OT1	HP:0000324	Facial asymmetry
10984	KCNQ1OT1	HP:0001640	Cardiomegaly
10984	KCNQ1OT1	HP:0001638	Cardiomyopathy
10984	KCNQ1OT1	HP:0006744	Adrenocortical carcinoma
10984	KCNQ1OT1	HP:0005487	Prominent metopic ridge
10984	KCNQ1OT1	HP:0000520	Proptosis
10991	SLC38A3	HP:0002421	Poor head control
10991	SLC38A3	HP:0001298	Encephalopathy
10991	SLC38A3	HP:0001290	Generalized hypotonia
10991	SLC38A3	HP:0001273	Abnormal corpus callosum morphology
10991	SLC38A3	HP:0001268	Mental deterioration
10991	SLC38A3	HP:0001250	Seizure
10991	SLC38A3	HP:0001251	Ataxia
10991	SLC38A3	HP:0001249	Intellectual disability
10991	SLC38A3	HP:0001265	Hyporeflexia
10991	SLC38A3	HP:0001263	Global developmental delay
10991	SLC38A3	HP:0001257	Spasticity
10991	SLC38A3	HP:0007334	Bilateral tonic-clonic seizure with focal onset
10991	SLC38A3	HP:0002540	Inability to walk
10991	SLC38A3	HP:0002521	Hypsarrhythmia
10991	SLC38A3	HP:0002509	Limb hypertonia
10991	SLC38A3	HP:0001347	Hyperreflexia
10991	SLC38A3	HP:0001344	Absent speech
10991	SLC38A3	HP:0000007	Autosomal recessive inheritance
10991	SLC38A3	HP:0001337	Tremor
10991	SLC38A3	HP:0001336	Myoclonus
10991	SLC38A3	HP:0001315	Reduced tendon reflexes
10991	SLC38A3	HP:0008936	Axial hypotonia
10991	SLC38A3	HP:0002020	Gastroesophageal reflux
10991	SLC38A3	HP:0002069	Bilateral tonic-clonic seizure
10991	SLC38A3	HP:0002063	Rigidity
10991	SLC38A3	HP:0002059	Cerebral atrophy
10991	SLC38A3	HP:0002123	Generalized myoclonic seizure
10991	SLC38A3	HP:0002133	Status epilepticus
10991	SLC38A3	HP:0003593	Infantile onset
10991	SLC38A3	HP:0002240	Hepatomegaly
10991	SLC38A3	HP:0100710	Impulsivity
10991	SLC38A3	HP:0200134	Epileptic encephalopathy
10991	SLC38A3	HP:0007018	Attention deficit hyperactivity disorder
10991	SLC38A3	HP:0011968	Feeding difficulties
10991	SLC38A3	HP:0002376	Developmental regression
10991	SLC38A3	HP:0002355	Difficulty walking
10991	SLC38A3	HP:0002317	Unsteady gait
10991	SLC38A3	HP:0010844	EEG with multifocal slow activity
10991	SLC38A3	HP:0100660	Dyskinesia
10991	SLC38A3	HP:0010821	Focal emotional seizure with laughing
10991	SLC38A3	HP:0003623	Neonatal onset
10991	SLC38A3	HP:0000639	Nystagmus
10991	SLC38A3	HP:0000648	Optic atrophy
10991	SLC38A3	HP:0000668	Hypodontia
10991	SLC38A3	HP:0004322	Short stature
10991	SLC38A3	HP:0004305	Involuntary movements
10991	SLC38A3	HP:0000750	Delayed speech and language development
10991	SLC38A3	HP:0000717	Autism
10991	SLC38A3	HP:0000708	Atypical behavior
10991	SLC38A3	HP:0011463	Childhood onset
10991	SLC38A3	HP:0011443	Abnormality of coordination
10991	SLC38A3	HP:0000252	Microcephaly
10991	SLC38A3	HP:0032663	Focal motor status epilepticus
10991	SLC38A3	HP:0001558	Decreased fetal movement
10991	SLC38A3	HP:0001508	Failure to thrive
10991	SLC38A3	HP:0001696	Situs inversus totalis
10991	SLC38A3	HP:0032792	Tonic seizure
10991	SLC38A3	HP:0000348	High forehead
10991	SLC38A3	HP:0001631	Atrial septal defect
10991	SLC38A3	HP:0000494	Downslanted palpebral fissures
10991	SLC38A3	HP:0012444	Brain atrophy
10991	SLC38A3	HP:0012447	Abnormal myelination
10991	SLC38A3	HP:0012450	Chronic constipation
10991	SLC38A3	HP:0000508	Ptosis
10991	SLC38A3	HP:0000505	Visual impairment
10991	SLC38A3	HP:0000504	Abnormality of vision
10991	SLC38A3	HP:0012547	Abnormal involuntary eye movements
10991	SLC38A3	HP:0000546	Retinal degeneration
10992	SF3B2	HP:0001140	Limbal dermoid
10992	SF3B2	HP:0008605	Unilateral external ear deformity
10992	SF3B2	HP:0009944	Partial duplication of thumb phalanx
10992	SF3B2	HP:0009892	Anotia
10992	SF3B2	HP:0008551	Microtia
10992	SF3B2	HP:0001274	Agenesis of corpus callosum
10992	SF3B2	HP:0001249	Intellectual disability
10992	SF3B2	HP:0000086	Ectopic kidney
10992	SF3B2	HP:0000076	Vesicoureteral reflux
10992	SF3B2	HP:0000074	Ureteropelvic junction obstruction
10992	SF3B2	HP:0012020	Right aortic arch
10992	SF3B2	HP:0000003	Multicystic kidney dysplasia
10992	SF3B2	HP:0000006	Autosomal dominant inheritance
10992	SF3B2	HP:0002650	Scoliosis
10992	SF3B2	HP:0000175	Cleft palate
10992	SF3B2	HP:0000154	Wide mouth
10992	SF3B2	HP:0000104	Renal agenesis
10992	SF3B2	HP:0004660	Hypoplasia of facial musculature
10992	SF3B2	HP:0003305	Block vertebrae
10992	SF3B2	HP:0002089	Pulmonary hypoplasia
10992	SF3B2	HP:0002085	Occipital encephalocele
10992	SF3B2	HP:0003577	Congenital onset
10992	SF3B2	HP:0008417	Vertebral hypoplasia
10992	SF3B2	HP:0100731	Transverse facial cleft
10992	SF3B2	HP:0009794	Branchial anomaly
10992	SF3B2	HP:0002308	Chiari malformation
10992	SF3B2	HP:0000636	Upper eyelid coloboma
10992	SF3B2	HP:0000646	Amblyopia
10992	SF3B2	HP:0011342	Mild global developmental delay
10992	SF3B2	HP:0011332	Hemifacial hypoplasia
10992	SF3B2	HP:0000891	Cervical ribs
10992	SF3B2	HP:0000272	Malar flattening
10992	SF3B2	HP:0000238	Hydrocephalus
10992	SF3B2	HP:0002857	Genu valgum
10992	SF3B2	HP:0000204	Cleft upper lip
10992	SF3B2	HP:0000384	Preauricular skin tag
10992	SF3B2	HP:0002937	Hemivertebrae
10992	SF3B2	HP:0001680	Coarctation of aorta
10992	SF3B2	HP:0000347	Micrognathia
10992	SF3B2	HP:0001643	Patent ductus arteriosus
10992	SF3B2	HP:0000327	Hypoplasia of the maxilla
10992	SF3B2	HP:0000324	Facial asymmetry
10992	SF3B2	HP:0001629	Ventricular septal defect
10992	SF3B2	HP:0001636	Tetralogy of Fallot
10992	SF3B2	HP:0000407	Sensorineural hearing impairment
10992	SF3B2	HP:0000405	Conductive hearing impairment
10992	SF3B2	HP:0000486	Strabismus
10992	SF3B2	HP:0000413	Atresia of the external auditory canal
10992	SF3B2	HP:0011272	Underdeveloped tragus
10992	SF3B2	HP:0011270	Duplicated tragus
10992	SF3B2	HP:0005439	Maxillozygomatic hypoplasia
10992	SF3B2	HP:0000528	Anophthalmia
10992	SF3B2	HP:0000508	Ptosis
10992	SF3B2	HP:0000581	Blepharophimosis
10992	SF3B2	HP:0000568	Microphthalmia
10999	SLC27A4	HP:0007549	Desquamation of skin soon after birth
10999	SLC27A4	HP:0007502	Follicular hyperkeratosis
10999	SLC27A4	HP:0007503	Generalized ichthyosis
10999	SLC27A4	HP:0000007	Autosomal recessive inheritance
10999	SLC27A4	HP:0002643	Neonatal respiratory distress
10999	SLC27A4	HP:0500093	Food allergy
10999	SLC27A4	HP:0002099	Asthma
10999	SLC27A4	HP:0002293	Alopecia of scalp
10999	SLC27A4	HP:0011971	Dermatographic urticaria
10999	SLC27A4	HP:0001019	Erythroderma
10999	SLC27A4	HP:0025092	Epidermal acanthosis
10999	SLC27A4	HP:0012768	Neonatal asphyxia
10999	SLC27A4	HP:0003193	Allergic rhinitis
10999	SLC27A4	HP:0000989	Pruritus
10999	SLC27A4	HP:0000953	Hyperpigmentation of the skin
10999	SLC27A4	HP:0008064	Ichthyosis
10999	SLC27A4	HP:0001561	Polyhydramnios
10999	SLC27A4	HP:0001622	Premature birth
10999	SLC27A4	HP:0025724	Caseous vernix-like desquamation
10999	SLC27A4	HP:0001880	Eosinophilia
11005	SPINK5	HP:0009886	Trichorrhexis nodosa
11005	SPINK5	HP:0001250	Seizure
11005	SPINK5	HP:0001249	Intellectual disability
11005	SPINK5	HP:0001263	Global developmental delay
11005	SPINK5	HP:0007400	Irregular hyperpigmentation
11005	SPINK5	HP:0000086	Ectopic kidney
11005	SPINK5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
11005	SPINK5	HP:0000007	Autosomal recessive inheritance
11005	SPINK5	HP:0500093	Food allergy
11005	SPINK5	HP:0000126	Hydronephrosis
11005	SPINK5	HP:0002719	Recurrent infections
11005	SPINK5	HP:0003355	Aminoaciduria
11005	SPINK5	HP:0002024	Malabsorption
11005	SPINK5	HP:0002099	Asthma
11005	SPINK5	HP:0002097	Emphysema
11005	SPINK5	HP:0004779	Brittle scalp hair
11005	SPINK5	HP:0002242	Abnormal intestine morphology
11005	SPINK5	HP:0002213	Fine hair
11005	SPINK5	HP:0002209	Sparse scalp hair
11005	SPINK5	HP:0002205	Recurrent respiratory infections
11005	SPINK5	HP:0002299	Brittle hair
11005	SPINK5	HP:0032061	Hypereosinophilia
11005	SPINK5	HP:0001036	Parakeratosis
11005	SPINK5	HP:0001025	Urticaria
11005	SPINK5	HP:0001019	Erythroderma
11005	SPINK5	HP:0100665	Angioedema
11005	SPINK5	HP:0004906	Hypernatremic dehydration
11005	SPINK5	HP:0001944	Dehydration
11005	SPINK5	HP:0000653	Sparse eyelashes
11005	SPINK5	HP:0004322	Short stature
11005	SPINK5	HP:0004315	Decreased circulating IgG level
11005	SPINK5	HP:0004313	Decreased circulating antibody level
11005	SPINK5	HP:0003011	Abnormality of the musculature
11005	SPINK5	HP:0011473	Villous atrophy
11005	SPINK5	HP:0003193	Allergic rhinitis
11005	SPINK5	HP:0100326	Immunologic hypersensitivity
11005	SPINK5	HP:0003212	Increased circulating IgE level
11005	SPINK5	HP:0045075	Sparse eyebrow
11005	SPINK5	HP:0000988	Skin rash
11005	SPINK5	HP:0000958	Dry skin
11005	SPINK5	HP:0000956	Acanthosis nigricans
11005	SPINK5	HP:0000964	Eczema
11005	SPINK5	HP:0008064	Ichthyosis
11005	SPINK5	HP:0001595	Abnormal hair morphology
11005	SPINK5	HP:0001508	Failure to thrive
11005	SPINK5	HP:0011100	Intestinal atresia
11011	TLK2	HP:0001156	Brachydactyly
11011	TLK2	HP:0001195	Single umbilical artery
11011	TLK2	HP:0025161	Frequent temper tantrums
11011	TLK2	HP:0001290	Generalized hypotonia
11011	TLK2	HP:0001270	Motor delay
11011	TLK2	HP:0001250	Seizure
11011	TLK2	HP:0001249	Intellectual disability
11011	TLK2	HP:0001263	Global developmental delay
11011	TLK2	HP:0001382	Joint hypermobility
11011	TLK2	HP:0001363	Craniosynostosis
11011	TLK2	HP:0000006	Autosomal dominant inheritance
11011	TLK2	HP:0002650	Scoliosis
11011	TLK2	HP:0000160	Narrow mouth
11011	TLK2	HP:0002019	Constipation
11011	TLK2	HP:0002014	Diarrhea
11011	TLK2	HP:0011800	Midface retrusion
11011	TLK2	HP:0003593	Infantile onset
11011	TLK2	HP:0003577	Congenital onset
11011	TLK2	HP:0002254	Intermittent diarrhea
11011	TLK2	HP:0007018	Attention deficit hyperactivity disorder
11011	TLK2	HP:0011968	Feeding difficulties
11011	TLK2	HP:0004322	Short stature
11011	TLK2	HP:0400000	Tall chin
11011	TLK2	HP:0000739	Anxiety
11011	TLK2	HP:0000750	Delayed speech and language development
11011	TLK2	HP:0000729	Autistic behavior
11011	TLK2	HP:0005780	Absent fourth finger distal interphalangeal crease
11011	TLK2	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger
11011	TLK2	HP:0000998	Hypertrichosis
11011	TLK2	HP:0000286	Epicanthus
11011	TLK2	HP:0000276	Long face
11011	TLK2	HP:0002808	Kyphosis
11011	TLK2	HP:0000252	Microcephaly
11011	TLK2	HP:0002883	Hyperventilation
11011	TLK2	HP:0000219	Thin upper lip vermilion
11011	TLK2	HP:0000218	High palate
11011	TLK2	HP:0001508	Failure to thrive
11011	TLK2	HP:0030051	Tip-toe gait
11011	TLK2	HP:0000388	Otitis media
11011	TLK2	HP:0001609	Hoarse voice
11011	TLK2	HP:0000358	Posteriorly rotated ears
11011	TLK2	HP:0000316	Hypertelorism
11011	TLK2	HP:0000307	Pointed chin
11011	TLK2	HP:0000486	Strabismus
11011	TLK2	HP:0000455	Broad nasal tip
11011	TLK2	HP:0001763	Pes planus
11011	TLK2	HP:0000426	Prominent nasal bridge
11011	TLK2	HP:0000506	Telecanthus
11011	TLK2	HP:0000508	Ptosis
11011	TLK2	HP:0000582	Upslanted palpebral fissure
11011	TLK2	HP:0000581	Blepharophimosis
11011	TLK2	HP:0000545	Myopia
11014	KDELR2	HP:0001270	Motor delay
11014	KDELR2	HP:0001252	Hypotonia
11014	KDELR2	HP:0001382	Joint hypermobility
11014	KDELR2	HP:0008873	Disproportionate short-limb short stature
11014	KDELR2	HP:0002673	Coxa valga
11014	KDELR2	HP:0000007	Autosomal recessive inheritance
11014	KDELR2	HP:0002650	Scoliosis
11014	KDELR2	HP:0002645	Wormian bones
11014	KDELR2	HP:0002757	Recurrent fractures
11014	KDELR2	HP:0003593	Infantile onset
11014	KDELR2	HP:0000767	Pectus excavatum
11014	KDELR2	HP:0011463	Childhood onset
11014	KDELR2	HP:0011461	Fetal onset
11014	KDELR2	HP:0000926	Platyspondyly
11014	KDELR2	HP:0000939	Osteoporosis
11014	KDELR2	HP:0008081	Pes valgus
11014	KDELR2	HP:0001591	Bell-shaped thorax
11014	KDELR2	HP:0002812	Coxa vara
11014	KDELR2	HP:0001552	Barrel-shaped chest
11014	KDELR2	HP:0006488	Bowing of the arm
11014	KDELR2	HP:0002979	Bowing of the legs
11014	KDELR2	HP:0001763	Pes planus
11019	LIAS	HP:0002415	Leukodystrophy
11019	LIAS	HP:0001298	Encephalopathy
11019	LIAS	HP:0001290	Generalized hypotonia
11019	LIAS	HP:0001270	Motor delay
11019	LIAS	HP:0001250	Seizure
11019	LIAS	HP:0001252	Hypotonia
11019	LIAS	HP:0001263	Global developmental delay
11019	LIAS	HP:0002510	Spastic tetraplegia
11019	LIAS	HP:0000007	Autosomal recessive inheritance
11019	LIAS	HP:0001336	Myoclonus
11019	LIAS	HP:0002093	Respiratory insufficiency
11019	LIAS	HP:0002059	Cerebral atrophy
11019	LIAS	HP:0002151	Increased serum lactate
11019	LIAS	HP:0002104	Apnea
11019	LIAS	HP:0002181	Cerebral edema
11019	LIAS	HP:0011968	Feeding difficulties
11019	LIAS	HP:0002360	Sleep disturbance
11019	LIAS	HP:0003623	Neonatal onset
11019	LIAS	HP:0003128	Lactic acidosis
11019	LIAS	HP:0034392	Joint contracture
11019	LIAS	HP:0000252	Microcephaly
11019	LIAS	HP:0001510	Growth delay
11019	LIAS	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
11019	LIAS	HP:0001639	Hypertrophic cardiomyopathy
11020	IFT27	HP:0001162	Postaxial hand polydactyly
11020	IFT27	HP:0001249	Intellectual disability
11020	IFT27	HP:0006101	Finger syndactyly
11020	IFT27	HP:0008736	Hypoplasia of penis
11020	IFT27	HP:0008724	Hypoplasia of the ovary
11020	IFT27	HP:0000089	Renal hypoplasia
11020	IFT27	HP:0000083	Renal insufficiency
11020	IFT27	HP:0001397	Hepatic steatosis
11020	IFT27	HP:0001395	Hepatic fibrosis
11020	IFT27	HP:0000028	Cryptorchidism
11020	IFT27	HP:0000007	Autosomal recessive inheritance
11020	IFT27	HP:0000003	Multicystic kidney dysplasia
11020	IFT27	HP:0000135	Hypogonadism
11020	IFT27	HP:0000126	Hydronephrosis
11020	IFT27	HP:0000100	Nephrotic syndrome
11020	IFT27	HP:0002167	Abnormality of speech or vocalization
11020	IFT27	HP:0003577	Congenital onset
11020	IFT27	HP:0002230	Generalized hirsutism
11020	IFT27	HP:0010747	Medial flaring of the eyebrow
11020	IFT27	HP:0000639	Nystagmus
11020	IFT27	HP:0004322	Short stature
11020	IFT27	HP:0004383	Hypoplastic left heart
11020	IFT27	HP:0004409	Hyposmia
11020	IFT27	HP:0000822	Hypertension
11020	IFT27	HP:0003241	External genital hypoplasia
11020	IFT27	HP:0003202	Skeletal muscle atrophy
11020	IFT27	HP:0100259	Postaxial polydactyly
11020	IFT27	HP:0001513	Obesity
11020	IFT27	HP:0000365	Hearing impairment
11020	IFT27	HP:0000368	Low-set, posteriorly rotated ears
11020	IFT27	HP:0001643	Patent ductus arteriosus
11020	IFT27	HP:0001629	Ventricular septal defect
11020	IFT27	HP:0001631	Atrial septal defect
11020	IFT27	HP:0000494	Downslanted palpebral fissures
11020	IFT27	HP:0000470	Short neck
11020	IFT27	HP:0000426	Prominent nasal bridge
11020	IFT27	HP:0000510	Rod-cone dystrophy
11020	IFT27	HP:0000512	Abnormal electroretinogram
11020	IFT27	HP:0000580	Pigmentary retinopathy
11023	VAX1	HP:0001274	Agenesis of corpus callosum
11023	VAX1	HP:0001263	Global developmental delay
11023	VAX1	HP:0000007	Autosomal recessive inheritance
11023	VAX1	HP:0000175	Cleft palate
11023	VAX1	HP:0003577	Congenital onset
11023	VAX1	HP:0012687	Agenesis of pineal gland
11023	VAX1	HP:0034396	Hippocampal malrotation
11023	VAX1	HP:0000204	Cleft upper lip
11023	VAX1	HP:0000568	Microphthalmia
11041	B4GAT1	HP:0007260	Type II lissencephaly
11041	B4GAT1	HP:0007227	Macrogyria
11041	B4GAT1	HP:0001274	Agenesis of corpus callosum
11041	B4GAT1	HP:0001284	Areflexia
11041	B4GAT1	HP:0001250	Seizure
11041	B4GAT1	HP:0001252	Hypotonia
11041	B4GAT1	HP:0001249	Intellectual disability
11041	B4GAT1	HP:0001265	Hyporeflexia
11041	B4GAT1	HP:0001263	Global developmental delay
11041	B4GAT1	HP:0001257	Spasticity
11041	B4GAT1	HP:0008734	Decreased testicular size
11041	B4GAT1	HP:0008736	Hypoplasia of penis
11041	B4GAT1	HP:0002539	Cortical dysplasia
11041	B4GAT1	HP:0002536	Abnormal cortical gyration
11041	B4GAT1	HP:0002500	Abnormal cerebral white matter morphology
11041	B4GAT1	HP:0000054	Micropenis
11041	B4GAT1	HP:0000028	Cryptorchidism
11041	B4GAT1	HP:0001331	Absent septum pellucidum
11041	B4GAT1	HP:0001328	Specific learning disability
11041	B4GAT1	HP:0001324	Muscle weakness
11041	B4GAT1	HP:0001339	Lissencephaly
11041	B4GAT1	HP:0000007	Autosomal recessive inheritance
11041	B4GAT1	HP:0001334	Communicating hydrocephalus
11041	B4GAT1	HP:0000003	Multicystic kidney dysplasia
11041	B4GAT1	HP:0001305	Dandy-Walker malformation
11041	B4GAT1	HP:0001302	Pachygyria
11041	B4GAT1	HP:0001321	Cerebellar hypoplasia
11041	B4GAT1	HP:0000193	Bifid uvula
11041	B4GAT1	HP:0000176	Submucous cleft hard palate
11041	B4GAT1	HP:0000175	Cleft palate
11041	B4GAT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
11041	B4GAT1	HP:0000126	Hydronephrosis
11041	B4GAT1	HP:0002085	Occipital encephalocele
11041	B4GAT1	HP:0100565	Hydromyelia
11041	B4GAT1	HP:0002119	Ventriculomegaly
11041	B4GAT1	HP:0002126	Polymicrogyria
11041	B4GAT1	HP:0010508	Metatarsus valgus
11041	B4GAT1	HP:0002269	Abnormality of neuronal migration
11041	B4GAT1	HP:0003560	Muscular dystrophy
11041	B4GAT1	HP:0002282	Gray matter heterotopia
11041	B4GAT1	HP:0002365	Hypoplasia of the brainstem
11041	B4GAT1	HP:0002335	Agenesis of cerebellar vermis
11041	B4GAT1	HP:0002323	Anencephaly
11041	B4GAT1	HP:0002334	Abnormal cerebellar vermis morphology
11041	B4GAT1	HP:0001093	Optic nerve dysplasia
11041	B4GAT1	HP:0006829	Severe muscular hypotonia
11041	B4GAT1	HP:0000648	Optic atrophy
11041	B4GAT1	HP:0000618	Blindness
11041	B4GAT1	HP:0000612	Iris coloboma
11041	B4GAT1	HP:0034198	Second trimester onset
11041	B4GAT1	HP:0100307	Cerebellar hemisphere hypoplasia
11041	B4GAT1	HP:0000878	11 pairs of ribs
11041	B4GAT1	HP:0040081	Abnormal circulating creatine kinase concentration
11041	B4GAT1	HP:0003236	Elevated circulating creatine kinase concentration
11041	B4GAT1	HP:0003202	Skeletal muscle atrophy
11041	B4GAT1	HP:0045040	Abnormal lactate dehydrogenase level
11041	B4GAT1	HP:0000256	Macrocephaly
11041	B4GAT1	HP:0007759	Opacification of the corneal stroma
11041	B4GAT1	HP:0007731	Chorioretinal dysplasia
11041	B4GAT1	HP:0000238	Hydrocephalus
11041	B4GAT1	HP:0000252	Microcephaly
11041	B4GAT1	HP:0000358	Posteriorly rotated ears
11041	B4GAT1	HP:0000369	Low-set ears
11041	B4GAT1	HP:0007957	Corneal opacity
11041	B4GAT1	HP:0007973	Retinal dysplasia
11041	B4GAT1	HP:0000482	Microcornea
11041	B4GAT1	HP:0012400	Abnormal circulating aldolase concentration
11041	B4GAT1	HP:0000411	Protruding ear
11041	B4GAT1	HP:0000518	Cataract
11041	B4GAT1	HP:0000528	Anophthalmia
11041	B4GAT1	HP:0000501	Glaucoma
11041	B4GAT1	HP:0000587	Abnormal optic nerve morphology
11041	B4GAT1	HP:0000556	Retinal dystrophy
11041	B4GAT1	HP:0000568	Microphthalmia
11041	B4GAT1	HP:0000541	Retinal detachment
11043	MID2	HP:0002465	Poor speech
11043	MID2	HP:0001250	Seizure
11043	MID2	HP:0001249	Intellectual disability
11043	MID2	HP:0001263	Global developmental delay
11043	MID2	HP:0007687	Unilateral ptosis
11043	MID2	HP:0001419	X-linked recessive inheritance
11043	MID2	HP:0003593	Infantile onset
11043	MID2	HP:0000648	Optic atrophy
11043	MID2	HP:0000752	Hyperactivity
11043	MID2	HP:0000276	Long face
11043	MID2	HP:0030084	Clinodactyly
11043	MID2	HP:0000322	Short philtrum
11043	MID2	HP:0000400	Macrotia
11043	MID2	HP:0000486	Strabismus
11055	ZPBP	HP:0000007	Autosomal recessive inheritance
11055	ZPBP	HP:0011462	Young adult onset
11055	ZPBP	HP:0003251	Male infertility
11055	ZPBP	HP:0012205	Globozoospermia
11077	HSF2BP	HP:0000007	Autosomal recessive inheritance
11077	HSF2BP	HP:0008222	Female infertility
11077	HSF2BP	HP:0008209	Premature ovarian insufficiency
11077	HSF2BP	HP:0000858	Irregular menstruation
11077	HSF2BP	HP:0000869	Secondary amenorrhea
11078	TRIOBP	HP:0008625	Severe sensorineural hearing impairment
11078	TRIOBP	HP:0000007	Autosomal recessive inheritance
11078	TRIOBP	HP:0003593	Infantile onset
11081	KERA	HP:0000007	Autosomal recessive inheritance
11081	KERA	HP:0007663	Reduced visual acuity
11081	KERA	HP:0001084	Corneal arcus
11081	KERA	HP:0100689	Decreased corneal thickness
11081	KERA	HP:0000647	Sclerocornea
11081	KERA	HP:0011463	Childhood onset
11081	KERA	HP:0007720	Flat cornea
11081	KERA	HP:0007957	Corneal opacity
11081	KERA	HP:0000568	Microphthalmia
11081	KERA	HP:0000540	Hypermetropia
11093	ADAMTS13	HP:0001297	Stroke
11093	ADAMTS13	HP:0001289	Confusion
11093	ADAMTS13	HP:0000093	Proteinuria
11093	ADAMTS13	HP:0000007	Autosomal recessive inheritance
11093	ADAMTS13	HP:0001337	Tremor
11093	ADAMTS13	HP:0002098	Respiratory distress
11093	ADAMTS13	HP:0002151	Increased serum lactate
11093	ADAMTS13	HP:0002326	Transient ischemic attack
11093	ADAMTS13	HP:0005575	Hemolytic-uremic syndrome
11093	ADAMTS13	HP:0001981	Schistocytosis
11093	ADAMTS13	HP:0001945	Fever
11093	ADAMTS13	HP:0001923	Reticulocytosis
11093	ADAMTS13	HP:0001937	Microangiopathic hemolytic anemia
11093	ADAMTS13	HP:0003138	Increased blood urea nitrogen
11093	ADAMTS13	HP:0003259	Elevated circulating creatinine concentration
11093	ADAMTS13	HP:0000952	Jaundice
11093	ADAMTS13	HP:0012211	Abnormal renal physiology
11093	ADAMTS13	HP:0006579	Prolonged neonatal jaundice
11093	ADAMTS13	HP:0002907	Microscopic hematuria
11093	ADAMTS13	HP:0001658	Myocardial infarction
11093	ADAMTS13	HP:0001873	Thrombocytopenia
11107	PRDM5	HP:0001166	Arachnodactyly
11107	PRDM5	HP:0001131	Corneal dystrophy
11107	PRDM5	HP:0001119	Keratoglobus
11107	PRDM5	HP:0009887	Abnormality of hair pigmentation
11107	PRDM5	HP:0001288	Gait disturbance
11107	PRDM5	HP:0001385	Hip dysplasia
11107	PRDM5	HP:0001382	Joint hypermobility
11107	PRDM5	HP:0000023	Inguinal hernia
11107	PRDM5	HP:0002659	Increased susceptibility to fractures
11107	PRDM5	HP:0000007	Autosomal recessive inheritance
11107	PRDM5	HP:0002650	Scoliosis
11107	PRDM5	HP:0001319	Neonatal hypotonia
11107	PRDM5	HP:0000164	Abnormality of the dentition
11107	PRDM5	HP:0000175	Cleft palate
11107	PRDM5	HP:0002757	Recurrent fractures
11107	PRDM5	HP:0003326	Myalgia
11107	PRDM5	HP:0100583	Corneal perforation
11107	PRDM5	HP:0005930	Abnormal epiphysis morphology
11107	PRDM5	HP:0100790	Hernia
11107	PRDM5	HP:0200020	Corneal erosion
11107	PRDM5	HP:0100689	Decreased corneal thickness
11107	PRDM5	HP:0000647	Sclerocornea
11107	PRDM5	HP:0005692	Joint hyperflexibility
11107	PRDM5	HP:0000978	Bruising susceptibility
11107	PRDM5	HP:0000977	Soft skin
11107	PRDM5	HP:0000974	Hyperextensible skin
11107	PRDM5	HP:0000939	Osteoporosis
11107	PRDM5	HP:0007720	Flat cornea
11107	PRDM5	HP:0001537	Umbilical hernia
11107	PRDM5	HP:0012385	Camptodactyly
11107	PRDM5	HP:0000365	Hearing impairment
11107	PRDM5	HP:0011003	High myopia
11107	PRDM5	HP:0001642	Pulmonic stenosis
11107	PRDM5	HP:0001634	Mitral valve prolapse
11107	PRDM5	HP:0000407	Sensorineural hearing impairment
11107	PRDM5	HP:0000405	Conductive hearing impairment
11107	PRDM5	HP:0000485	Megalocornea
11107	PRDM5	HP:0001763	Pes planus
11107	PRDM5	HP:0001822	Hallux valgus
11107	PRDM5	HP:0000501	Glaucoma
11107	PRDM5	HP:0000592	Blue sclerae
11107	PRDM5	HP:0000563	Keratoconus
11107	PRDM5	HP:0000559	Corneal scarring
11107	PRDM5	HP:0000572	Visual loss
11107	PRDM5	HP:0000541	Retinal detachment
11107	PRDM5	HP:0000545	Myopia
11113	CIT	HP:0010862	Delayed fine motor development
11113	CIT	HP:0010864	Intellectual disability, severe
11113	CIT	HP:0009879	Simplified gyral pattern
11113	CIT	HP:0001276	Hypertonia
11113	CIT	HP:0001274	Agenesis of corpus callosum
11113	CIT	HP:0001250	Seizure
11113	CIT	HP:0001249	Intellectual disability
11113	CIT	HP:0001263	Global developmental delay
11113	CIT	HP:0001257	Spasticity
11113	CIT	HP:0007333	Hypoplasia of the frontal lobes
11113	CIT	HP:0000076	Vesicoureteral reflux
11113	CIT	HP:0001347	Hyperreflexia
11113	CIT	HP:0000007	Autosomal recessive inheritance
11113	CIT	HP:0001302	Pachygyria
11113	CIT	HP:0001321	Cerebellar hypoplasia
11113	CIT	HP:0000122	Unilateral renal agenesis
11113	CIT	HP:0000104	Renal agenesis
11113	CIT	HP:0002079	Hypoplasia of the corpus callosum
11113	CIT	HP:0002119	Ventriculomegaly
11113	CIT	HP:0002194	Delayed gross motor development
11113	CIT	HP:0003577	Congenital onset
11113	CIT	HP:0002282	Gray matter heterotopia
11113	CIT	HP:0002365	Hypoplasia of the brainstem
11113	CIT	HP:0004322	Short stature
11113	CIT	HP:0000750	Delayed speech and language development
11113	CIT	HP:0011451	Primary microcephaly
11113	CIT	HP:0003103	Abnormal cortical bone morphology
11113	CIT	HP:0045028	Microlissencephaly
11113	CIT	HP:0000294	Low anterior hairline
11113	CIT	HP:0000252	Microcephaly
11113	CIT	HP:0000219	Thin upper lip vermilion
11113	CIT	HP:0001508	Failure to thrive
11113	CIT	HP:0001510	Growth delay
11113	CIT	HP:0000340	Sloping forehead
11113	CIT	HP:0000316	Hypertelorism
11113	CIT	HP:0000400	Macrotia
11113	CIT	HP:0012471	Thick vermilion border
11113	CIT	HP:0012434	Delayed social development
11113	CIT	HP:0000414	Bulbous nose
11113	CIT	HP:0000582	Upslanted palpebral fissure
11117	EMILIN1	HP:0001249	Intellectual disability
11117	EMILIN1	HP:0001245	Small thenar eminence
11117	EMILIN1	HP:0033685	Fiber type grouping
11117	EMILIN1	HP:0001382	Joint hypermobility
11117	EMILIN1	HP:0001347	Hyperreflexia
11117	EMILIN1	HP:0000006	Autosomal dominant inheritance
11117	EMILIN1	HP:0002758	Osteoarthritis
11117	EMILIN1	HP:0100550	Tendon rupture
11117	EMILIN1	HP:0002110	Bronchiectasis
11117	EMILIN1	HP:0002169	Clonus
11117	EMILIN1	HP:0033383	Decreased compound muscle action potential amplitude
11117	EMILIN1	HP:0003691	Scapular winging
11117	EMILIN1	HP:0009830	Peripheral neuropathy
11117	EMILIN1	HP:0007141	Sensorimotor neuropathy
11117	EMILIN1	HP:0004933	Ascending aortic dissection
11117	EMILIN1	HP:0009053	Distal lower limb muscle weakness
11117	EMILIN1	HP:0011463	Childhood onset
11117	EMILIN1	HP:0000978	Bruising susceptibility
11117	EMILIN1	HP:0012499	Descending aortic dissection
11117	EMILIN1	HP:0001763	Pes planus
11117	EMILIN1	HP:0001761	Pes cavus
11128	POLR3A	HP:0001176	Large hands
11128	POLR3A	HP:0025134	Increased serum estradiol
11128	POLR3A	HP:0002493	Upper motor neuron dysfunction
11128	POLR3A	HP:0002464	Spastic dysarthria
11128	POLR3A	HP:0002415	Leukodystrophy
11128	POLR3A	HP:0003758	Reduced subcutaneous adipose tissue
11128	POLR3A	HP:0002403	Positive Romberg sign
11128	POLR3A	HP:0003700	Generalized amyotrophy
11128	POLR3A	HP:0003712	Skeletal muscle hypertrophy
11128	POLR3A	HP:0001290	Generalized hypotonia
11128	POLR3A	HP:0100807	Long fingers
11128	POLR3A	HP:0001276	Hypertonia
11128	POLR3A	HP:0001272	Cerebellar atrophy
11128	POLR3A	HP:0001274	Agenesis of corpus callosum
11128	POLR3A	HP:0001289	Confusion
11128	POLR3A	HP:0001256	Intellectual disability, mild
11128	POLR3A	HP:0001250	Seizure
11128	POLR3A	HP:0001252	Hypotonia
11128	POLR3A	HP:0001251	Ataxia
11128	POLR3A	HP:0001249	Intellectual disability
11128	POLR3A	HP:0001260	Dysarthria
11128	POLR3A	HP:0001263	Global developmental delay
11128	POLR3A	HP:0001257	Spasticity
11128	POLR3A	HP:0010994	Abnormal corpus striatum morphology
11128	POLR3A	HP:0007359	Focal-onset seizure
11128	POLR3A	HP:0002509	Limb hypertonia
11128	POLR3A	HP:0002505	Loss of ambulation
11128	POLR3A	HP:0001397	Hepatic steatosis
11128	POLR3A	HP:0000076	Vesicoureteral reflux
11128	POLR3A	HP:0000044	Hypogonadotropic hypogonadism
11128	POLR3A	HP:0000040	Long penis
11128	POLR3A	HP:0001371	Flexion contracture
11128	POLR3A	HP:0001385	Hip dysplasia
11128	POLR3A	HP:0001382	Joint hypermobility
11128	POLR3A	HP:0000047	Hypospadias
11128	POLR3A	HP:0002684	Thickened calvaria
11128	POLR3A	HP:0001347	Hyperreflexia
11128	POLR3A	HP:0002692	Hypoplastic facial bones
11128	POLR3A	HP:0000028	Cryptorchidism
11128	POLR3A	HP:0008846	Severe intrauterine growth retardation
11128	POLR3A	HP:0007495	Prematurely aged appearance
11128	POLR3A	HP:0007485	Absence of subcutaneous fat
11128	POLR3A	HP:0001332	Dystonia
11128	POLR3A	HP:0001324	Muscle weakness
11128	POLR3A	HP:0000010	Recurrent urinary tract infections
11128	POLR3A	HP:0000007	Autosomal recessive inheritance
11128	POLR3A	HP:0001337	Tremor
11128	POLR3A	HP:0001310	Dysmetria
11128	POLR3A	HP:0001305	Dandy-Walker malformation
11128	POLR3A	HP:0002650	Scoliosis
11128	POLR3A	HP:0001321	Cerebellar hypoplasia
11128	POLR3A	HP:0000164	Abnormality of the dentition
11128	POLR3A	HP:0025460	High myoinositol in brain by MRS
11128	POLR3A	HP:0000160	Narrow mouth
11128	POLR3A	HP:0001476	Delayed closure of the anterior fontanelle
11128	POLR3A	HP:0000126	Hydronephrosis
11128	POLR3A	HP:0002751	Kyphoscoliosis
11128	POLR3A	HP:0002714	Downturned corners of mouth
11128	POLR3A	HP:0004691	2-3 toe syndactyly
11128	POLR3A	HP:0003326	Myalgia
11128	POLR3A	HP:0002015	Dysphagia
11128	POLR3A	HP:0002007	Frontal bossing
11128	POLR3A	HP:0005978	Type II diabetes mellitus
11128	POLR3A	HP:0011819	Submucous cleft soft palate
11128	POLR3A	HP:0002080	Intention tremor
11128	POLR3A	HP:0002090	Pneumonia
11128	POLR3A	HP:0002078	Truncal ataxia
11128	POLR3A	HP:0002079	Hypoplasia of the corpus callosum
11128	POLR3A	HP:0100581	Dilatation of renal calices
11128	POLR3A	HP:0100578	Lipoatrophy
11128	POLR3A	HP:0002155	Hypertriglyceridemia
11128	POLR3A	HP:0003487	Babinski sign
11128	POLR3A	HP:0002120	Cerebral cortical atrophy
11128	POLR3A	HP:0002134	Abnormal basal ganglia morphology
11128	POLR3A	HP:0002126	Polymicrogyria
11128	POLR3A	HP:0003429	CNS hypomyelination
11128	POLR3A	HP:0003413	Atlantoaxial abnormality
11128	POLR3A	HP:0002166	Impaired vibration sensation in the lower limbs
11128	POLR3A	HP:0002174	Postural tremor
11128	POLR3A	HP:0100490	Camptodactyly of finger
11128	POLR3A	HP:0010511	Long toe
11128	POLR3A	HP:0003593	Infantile onset
11128	POLR3A	HP:0003577	Congenital onset
11128	POLR3A	HP:0002223	Absent eyebrow
11128	POLR3A	HP:0002209	Sparse scalp hair
11128	POLR3A	HP:0002205	Recurrent respiratory infections
11128	POLR3A	HP:0100769	Synovitis
11128	POLR3A	HP:0002293	Alopecia of scalp
11128	POLR3A	HP:0010648	Dermal translucency
11128	POLR3A	HP:0011968	Feeding difficulties
11128	POLR3A	HP:0007099	Chiari type I malformation
11128	POLR3A	HP:0008386	Aplasia/Hypoplasia of the nails
11128	POLR3A	HP:0002376	Developmental regression
11128	POLR3A	HP:0001043	Prominent scalp veins
11128	POLR3A	HP:0002345	Action tremor
11128	POLR3A	HP:0003676	Progressive
11128	POLR3A	HP:0002342	Intellectual disability, moderate
11128	POLR3A	HP:0001007	Hirsutism
11128	POLR3A	HP:0100678	Premature skin wrinkling
11128	POLR3A	HP:0009830	Peripheral neuropathy
11128	POLR3A	HP:0100613	Death in early adulthood
11128	POLR3A	HP:0008476	Irregular sclerotic endplates
11128	POLR3A	HP:0008479	Hypoplastic vertebral bodies
11128	POLR3A	HP:0008469	Cervical vertebral dysplasia
11128	POLR3A	HP:0002312	Clumsiness
11128	POLR3A	HP:0002308	Chiari malformation
11128	POLR3A	HP:0002307	Drooling
11128	POLR3A	HP:0003621	Juvenile onset
11128	POLR3A	HP:0006858	Impaired distal proprioception
11128	POLR3A	HP:0000640	Gaze-evoked nystagmus
11128	POLR3A	HP:0000639	Nystagmus
11128	POLR3A	HP:0000648	Optic atrophy
11128	POLR3A	HP:0000617	Abnormality of ocular smooth pursuit
11128	POLR3A	HP:0001945	Fever
11128	POLR3A	HP:0000621	Entropion
11128	POLR3A	HP:0000601	Hypotelorism
11128	POLR3A	HP:0009059	Congenital generalized lipodystrophy
11128	POLR3A	HP:0000684	Delayed eruption of teeth
11128	POLR3A	HP:0000677	Oligodontia
11128	POLR3A	HP:0000695	Natal tooth
11128	POLR3A	HP:0009003	Increased subcutaneous truncal adipose tissue
11128	POLR3A	HP:0000656	Ectropion
11128	POLR3A	HP:0000653	Sparse eyelashes
11128	POLR3A	HP:0000668	Hypodontia
11128	POLR3A	HP:0000664	Synophrys
11128	POLR3A	HP:0004322	Short stature
11128	POLR3A	HP:0011410	Caesarian section
11128	POLR3A	HP:0000771	Gynecomastia
11128	POLR3A	HP:0011463	Childhood onset
11128	POLR3A	HP:0000778	Hypoplasia of the thymus
11128	POLR3A	HP:0000774	Narrow chest
11128	POLR3A	HP:0003100	Slender long bone
11128	POLR3A	HP:0004482	Relative macrocephaly
11128	POLR3A	HP:0004492	Widely patent fontanelles and sutures
11128	POLR3A	HP:0005792	Short humerus
11128	POLR3A	HP:0000883	Thin ribs
11128	POLR3A	HP:0000870	Increased circulating prolactin concentration
11128	POLR3A	HP:0000836	Hyperthyroidism
11128	POLR3A	HP:0012811	Wide nasal ridge
11128	POLR3A	HP:0003097	Short femur
11128	POLR3A	HP:0000815	Hypergonadotropic hypogonadism
11128	POLR3A	HP:0000824	Decreased response to growth hormone stimulation test
11128	POLR3A	HP:0000823	Delayed puberty
11128	POLR3A	HP:0045075	Sparse eyebrow
11128	POLR3A	HP:0003269	Sudanophilic leukodystrophy
11128	POLR3A	HP:0000958	Dry skin
11128	POLR3A	HP:0000956	Acanthosis nigricans
11128	POLR3A	HP:0000963	Thin skin
11128	POLR3A	HP:0000938	Osteopenia
11128	POLR3A	HP:0045025	Narrow palpebral fissure
11128	POLR3A	HP:0045017	Congenital malformation of the left heart
11128	POLR3A	HP:0000946	Hypoplastic ilia
11128	POLR3A	HP:0008070	Sparse hair
11128	POLR3A	HP:0000278	Retrognathia
11128	POLR3A	HP:0000292	Loss of facial adipose tissue
11128	POLR3A	HP:0001596	Alopecia
11128	POLR3A	HP:0000256	Macrocephaly
11128	POLR3A	HP:0000272	Malar flattening
11128	POLR3A	HP:0000267	Cranial asymmetry
11128	POLR3A	HP:0006470	Thin long bone diaphyses
11128	POLR3A	HP:0007766	Optic disc hypoplasia
11128	POLR3A	HP:0030084	Clinodactyly
11128	POLR3A	HP:0030088	Increased serum testosterone level
11128	POLR3A	HP:0000242	Parietal bossing
11128	POLR3A	HP:0000238	Hydrocephalus
11128	POLR3A	HP:0001581	Recurrent skin infections
11128	POLR3A	HP:0000248	Brachycephaly
11128	POLR3A	HP:0000219	Thin upper lip vermilion
11128	POLR3A	HP:0000233	Thin vermilion border
11128	POLR3A	HP:0030001	Lagophthalmos
11128	POLR3A	HP:0001533	Slender build
11128	POLR3A	HP:0001508	Failure to thrive
11128	POLR3A	HP:0001518	Small for gestational age
11128	POLR3A	HP:0001511	Intrauterine growth retardation
11128	POLR3A	HP:0001510	Growth delay
11128	POLR3A	HP:0000385	Small earlobe
11128	POLR3A	HP:0000387	Absent earlobe
11128	POLR3A	HP:0001601	Laryngomalacia
11128	POLR3A	HP:0005164	Dysplastic pulmonary valve
11128	POLR3A	HP:0006480	Premature loss of teeth
11128	POLR3A	HP:0000364	Hearing abnormality
11128	POLR3A	HP:0000358	Posteriorly rotated ears
11128	POLR3A	HP:0000369	Low-set ears
11128	POLR3A	HP:0000343	Long philtrum
11128	POLR3A	HP:0000337	Broad forehead
11128	POLR3A	HP:0000336	Prominent supraorbital ridges
11128	POLR3A	HP:0001684	Secundum atrial septal defect
11128	POLR3A	HP:0000347	Micrognathia
11128	POLR3A	HP:0000319	Smooth philtrum
11128	POLR3A	HP:0000316	Hypertelorism
11128	POLR3A	HP:0001642	Pulmonic stenosis
11128	POLR3A	HP:0000322	Short philtrum
11128	POLR3A	HP:0000325	Triangular face
11128	POLR3A	HP:0002970	Genu varum
11128	POLR3A	HP:0000307	Pointed chin
11128	POLR3A	HP:0007957	Corneal opacity
11128	POLR3A	HP:0005328	Progeroid facial appearance
11128	POLR3A	HP:0005341	Autonomic bladder dysfunction
11128	POLR3A	HP:0000403	Recurrent otitis media
11128	POLR3A	HP:0005280	Depressed nasal bridge
11128	POLR3A	HP:0000494	Downslanted palpebral fissures
11128	POLR3A	HP:0000490	Deeply set eye
11128	POLR3A	HP:0001792	Small nail
11128	POLR3A	HP:0000463	Anteverted nares
11128	POLR3A	HP:0000460	Narrow nose
11128	POLR3A	HP:0000472	Long neck
11128	POLR3A	HP:0000470	Short neck
11128	POLR3A	HP:0030265	Wide penis
11128	POLR3A	HP:0000444	Convex nasal ridge
11128	POLR3A	HP:0000418	Narrow nasal ridge
11128	POLR3A	HP:0001762	Talipes equinovarus
11128	POLR3A	HP:0000518	Cataract
11128	POLR3A	HP:0000511	Vertical supranuclear gaze palsy
11128	POLR3A	HP:0000520	Proptosis
11128	POLR3A	HP:0001833	Long foot
11128	POLR3A	HP:0000598	Abnormality of the ear
11128	POLR3A	HP:0000582	Upslanted palpebral fissure
11128	POLR3A	HP:0000580	Pigmentary retinopathy
11128	POLR3A	HP:0000592	Blue sclerae
11128	POLR3A	HP:0011229	Broad eyebrow
11128	POLR3A	HP:0000561	Absent eyelashes
11128	POLR3A	HP:0011220	Prominent forehead
11128	POLR3A	HP:0000540	Hypermetropia
11128	POLR3A	HP:0000545	Myopia
11133	KPTN	HP:0001270	Motor delay
11133	KPTN	HP:0001250	Seizure
11133	KPTN	HP:0001252	Hypotonia
11133	KPTN	HP:0001249	Intellectual disability
11133	KPTN	HP:0001263	Global developmental delay
11133	KPTN	HP:0001212	Prominent fingertip pads
11133	KPTN	HP:0001363	Craniosynostosis
11133	KPTN	HP:0000007	Autosomal recessive inheritance
11133	KPTN	HP:0001433	Hepatosplenomegaly
11133	KPTN	HP:0002007	Frontal bossing
11133	KPTN	HP:0100540	Palpebral edema
11133	KPTN	HP:0002069	Bilateral tonic-clonic seizure
11133	KPTN	HP:0002121	Generalized non-motor (absence) seizure
11133	KPTN	HP:0002119	Ventriculomegaly
11133	KPTN	HP:0002197	Generalized-onset seizure
11133	KPTN	HP:0002240	Hepatomegaly
11133	KPTN	HP:0100716	Self-injurious behavior
11133	KPTN	HP:0010845	EEG with generalized slow activity
11133	KPTN	HP:0003621	Juvenile onset
11133	KPTN	HP:0004209	Clinodactyly of the 5th finger
11133	KPTN	HP:0001963	Abnormal speech discrimination
11133	KPTN	HP:0031936	Delayed ability to walk
11133	KPTN	HP:0000739	Anxiety
11133	KPTN	HP:0000733	Abnormal repetitive mannerisms
11133	KPTN	HP:0000750	Delayed speech and language development
11133	KPTN	HP:0000729	Autistic behavior
11133	KPTN	HP:0011463	Childhood onset
11133	KPTN	HP:0030799	Scaphocephaly
11133	KPTN	HP:0045025	Narrow palpebral fissure
11133	KPTN	HP:0000278	Retrognathia
11133	KPTN	HP:0000256	Macrocephaly
11133	KPTN	HP:0000268	Dolichocephaly
11133	KPTN	HP:0000218	High palate
11133	KPTN	HP:0006532	Recurrent pneumonia
11133	KPTN	HP:0000316	Hypertelorism
11133	KPTN	HP:0000308	Microretrognathia
11133	KPTN	HP:0000303	Mandibular prognathia
11133	KPTN	HP:0000494	Downslanted palpebral fissures
11133	KPTN	HP:0000455	Broad nasal tip
11133	KPTN	HP:0001744	Splenomegaly
11133	KPTN	HP:0000431	Wide nasal bridge
11133	KPTN	HP:0011220	Prominent forehead
11136	SLC7A9	HP:0000083	Renal insufficiency
11136	SLC7A9	HP:0000010	Recurrent urinary tract infections
11136	SLC7A9	HP:0000007	Autosomal recessive inheritance
11136	SLC7A9	HP:0000006	Autosomal dominant inheritance
11136	SLC7A9	HP:0003532	Ornithinuria
11136	SLC7A9	HP:0000787	Nephrolithiasis
11136	SLC7A9	HP:0003131	Cystinuria
11136	SLC7A9	HP:0003297	Hyperlysinuria
11136	SLC7A9	HP:0003268	Argininuria
11141	IL1RAPL1	HP:0009909	Uplifted earlobe
11141	IL1RAPL1	HP:0001250	Seizure
11141	IL1RAPL1	HP:0001382	Joint hypermobility
11141	IL1RAPL1	HP:0000053	Macroorchidism
11141	IL1RAPL1	HP:0000194	Open mouth
11141	IL1RAPL1	HP:0001419	X-linked recessive inheritance
11141	IL1RAPL1	HP:0100710	Impulsivity
11141	IL1RAPL1	HP:0002342	Intellectual disability, moderate
11141	IL1RAPL1	HP:0010804	Tented upper lip vermilion
11141	IL1RAPL1	HP:0000678	Dental crowding
11141	IL1RAPL1	HP:0000664	Synophrys
11141	IL1RAPL1	HP:0000752	Hyperactivity
11141	IL1RAPL1	HP:0000717	Autism
11141	IL1RAPL1	HP:0003196	Short nose
11141	IL1RAPL1	HP:0000316	Hypertelorism
11141	IL1RAPL1	HP:0000303	Mandibular prognathia
11141	IL1RAPL1	HP:0000486	Strabismus
11141	IL1RAPL1	HP:0000582	Upslanted palpebral fissure
11146	GLMN	HP:0000006	Autosomal dominant inheritance
11146	GLMN	HP:0002629	Gastrointestinal arteriovenous malformation
11146	GLMN	HP:0002778	Abnormal tracheal morphology
11146	GLMN	HP:0010640	Abnormality of the nasal cavity
11146	GLMN	HP:0200036	Skin nodule
11146	GLMN	HP:0200035	Skin plaque
11146	GLMN	HP:0200034	Papule
11146	GLMN	HP:0001939	Abnormality of metabolism/homeostasis
11146	GLMN	HP:0011355	Localized skin lesion
11146	GLMN	HP:0011354	Generalized abnormality of skin
11146	GLMN	HP:0012721	Venous malformation
11146	GLMN	HP:0100026	Arteriovenous malformation
11146	GLMN	HP:0045026	Abnormal mediastinum morphology
11146	GLMN	HP:0000951	Abnormality of the skin
11146	GLMN	HP:0002817	Abnormality of the upper limb
11146	GLMN	HP:0002814	Abnormality of the lower limb
11146	GLMN	HP:0012210	Abnormal renal morphology
11146	GLMN	HP:0031445	Oral mucosa nodule
11146	GLMN	HP:0011297	Abnormal digit morphology
11149	BVES	HP:0003701	Proximal muscle weakness
11149	BVES	HP:0003713	Muscle fiber necrosis
11149	BVES	HP:0001279	Syncope
11149	BVES	HP:0002505	Loss of ambulation
11149	BVES	HP:0000007	Autosomal recessive inheritance
11149	BVES	HP:0003325	Limb-girdle muscle weakness
11149	BVES	HP:0003326	Myalgia
11149	BVES	HP:0011706	Second degree atrioventricular block
11149	BVES	HP:0003596	Middle age onset
11149	BVES	HP:0003546	Exercise intolerance
11149	BVES	HP:0003560	Muscular dystrophy
11149	BVES	HP:0003557	Increased variability in muscle fiber diameter
11149	BVES	HP:0003690	Limb muscle weakness
11149	BVES	HP:0002355	Difficulty walking
11149	BVES	HP:0003687	Centrally nucleated skeletal muscle fibers
11149	BVES	HP:0003621	Juvenile onset
11149	BVES	HP:0001962	Palpitations
11149	BVES	HP:0003236	Elevated circulating creatine kinase concentration
11149	BVES	HP:0003202	Skeletal muscle atrophy
11149	BVES	HP:0001688	Sinus bradycardia
11149	BVES	HP:0025708	Early young adult onset
11151	CORO1A	HP:0001263	Global developmental delay
11151	CORO1A	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine
11151	CORO1A	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
11151	CORO1A	HP:0000007	Autosomal recessive inheritance
11151	CORO1A	HP:0002783	Recurrent lower respiratory tract infections
11151	CORO1A	HP:0002788	Recurrent upper respiratory tract infections
11151	CORO1A	HP:0002721	Immunodeficiency
11151	CORO1A	HP:0002020	Gastroesophageal reflux
11151	CORO1A	HP:0003593	Infantile onset
11151	CORO1A	HP:0007018	Attention deficit hyperactivity disorder
11151	CORO1A	HP:0009098	Chronic oral candidiasis
11151	CORO1A	HP:4000166	Post-vaccination varicella zoster virus infection
11151	CORO1A	HP:0000403	Recurrent otitis media
11151	CORO1A	HP:0001888	Lymphopenia
11152	WDR45	HP:0002465	Poor speech
11152	WDR45	HP:0002454	Eye of the tiger anomaly of globus pallidus
11152	WDR45	HP:0002448	Progressive encephalopathy
11152	WDR45	HP:0001272	Cerebellar atrophy
11152	WDR45	HP:0001268	Mental deterioration
11152	WDR45	HP:0001250	Seizure
11152	WDR45	HP:0001249	Intellectual disability
11152	WDR45	HP:0001263	Global developmental delay
11152	WDR45	HP:0002521	Hypsarrhythmia
11152	WDR45	HP:0001332	Dystonia
11152	WDR45	HP:0001344	Absent speech
11152	WDR45	HP:0000007	Autosomal recessive inheritance
11152	WDR45	HP:0001337	Tremor
11152	WDR45	HP:0001336	Myoclonus
11152	WDR45	HP:0001300	Parkinsonism
11152	WDR45	HP:0007663	Reduced visual acuity
11152	WDR45	HP:0001423	X-linked dominant inheritance
11152	WDR45	HP:0002067	Bradykinesia
11152	WDR45	HP:0002063	Rigidity
11152	WDR45	HP:0002059	Cerebral atrophy
11152	WDR45	HP:0002180	Neurodegeneration
11152	WDR45	HP:0033329	Abnormal postural reflex
11152	WDR45	HP:0002360	Sleep disturbance
11152	WDR45	HP:0002376	Developmental regression
11152	WDR45	HP:0001022	Albinism
11152	WDR45	HP:0002313	Spastic paraparesis
11152	WDR45	HP:0008499	High hypermetropia
11152	WDR45	HP:0002304	Akinesia
11152	WDR45	HP:0000639	Nystagmus
11152	WDR45	HP:0000648	Optic atrophy
11152	WDR45	HP:0000613	Photophobia
11152	WDR45	HP:0012675	Iron accumulation in brain
11152	WDR45	HP:0012678	Iron accumulation in substantia nigra
11152	WDR45	HP:0031936	Delayed ability to walk
11152	WDR45	HP:0000739	Anxiety
11152	WDR45	HP:0000750	Delayed speech and language development
11152	WDR45	HP:0000743	Frontal release signs
11152	WDR45	HP:0000718	Aggressive behavior
11152	WDR45	HP:0000726	Dementia
11152	WDR45	HP:0000707	Abnormality of the nervous system
11152	WDR45	HP:0011463	Childhood onset
11152	WDR45	HP:0012805	Iris transillumination defect
11152	WDR45	HP:0012332	Abnormal autonomic nervous system physiology
11152	WDR45	HP:0012469	Infantile spasms
11152	WDR45	HP:0000496	Abnormality of eye movement
11152	WDR45	HP:0011121	Abnormality of skin morphology
11152	WDR45	HP:0000577	Exotropia
11152	WDR45	HP:0000565	Esotropia
11154	AP4S1	HP:0002465	Poor speech
11154	AP4S1	HP:0002464	Spastic dysarthria
11154	AP4S1	HP:0100962	Shyness
11154	AP4S1	HP:0010864	Intellectual disability, severe
11154	AP4S1	HP:0001276	Hypertonia
11154	AP4S1	HP:0001272	Cerebellar atrophy
11154	AP4S1	HP:0001250	Seizure
11154	AP4S1	HP:0001252	Hypotonia
11154	AP4S1	HP:0001263	Global developmental delay
11154	AP4S1	HP:0001258	Spastic paraplegia
11154	AP4S1	HP:0001257	Spasticity
11154	AP4S1	HP:0007359	Focal-onset seizure
11154	AP4S1	HP:0002518	Abnormal periventricular white matter morphology
11154	AP4S1	HP:0002515	Waddling gait
11154	AP4S1	HP:0002505	Loss of ambulation
11154	AP4S1	HP:0008807	Acetabular dysplasia
11154	AP4S1	HP:0001371	Flexion contracture
11154	AP4S1	HP:0001347	Hyperreflexia
11154	AP4S1	HP:0001332	Dystonia
11154	AP4S1	HP:0000007	Autosomal recessive inheritance
11154	AP4S1	HP:0000154	Wide mouth
11154	AP4S1	HP:0008936	Axial hypotonia
11154	AP4S1	HP:0002761	Generalized joint laxity
11154	AP4S1	HP:0002079	Hypoplasia of the corpus callosum
11154	AP4S1	HP:0003487	Babinski sign
11154	AP4S1	HP:0002120	Cerebral cortical atrophy
11154	AP4S1	HP:0003577	Congenital onset
11154	AP4S1	HP:0007020	Progressive spastic paraplegia
11154	AP4S1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
11154	AP4S1	HP:0002355	Difficulty walking
11154	AP4S1	HP:0010803	Everted upper lip vermilion
11154	AP4S1	HP:0002307	Drooling
11154	AP4S1	HP:0000646	Amblyopia
11154	AP4S1	HP:0004322	Short stature
11154	AP4S1	HP:0100021	Cerebral palsy
11154	AP4S1	HP:0000733	Abnormal repetitive mannerisms
11154	AP4S1	HP:0000280	Coarse facial features
11154	AP4S1	HP:0000297	Facial hypotonia
11154	AP4S1	HP:0002816	Genu recurvatum
11154	AP4S1	HP:0000252	Microcephaly
11154	AP4S1	HP:0000218	High palate
11154	AP4S1	HP:0025502	Overweight
11154	AP4S1	HP:0000341	Narrow forehead
11154	AP4S1	HP:0000316	Hypertelorism
11154	AP4S1	HP:0000322	Short philtrum
11154	AP4S1	HP:0000486	Strabismus
11154	AP4S1	HP:0012471	Thick vermilion border
11154	AP4S1	HP:0001763	Pes planus
11154	AP4S1	HP:0000448	Prominent nose
11154	AP4S1	HP:0000414	Bulbous nose
11154	AP4S1	HP:0001762	Talipes equinovarus
11154	AP4S1	HP:0000431	Wide nasal bridge
11155	LDB3	HP:0003736	Autophagic vacuoles
11155	LDB3	HP:0003715	Myofibrillar myopathy
11155	LDB3	HP:0001271	Polyneuropathy
11155	LDB3	HP:0001288	Gait disturbance
11155	LDB3	HP:0002505	Loss of ambulation
11155	LDB3	HP:0031189	Wrist drop
11155	LDB3	HP:0000006	Autosomal dominant inheritance
11155	LDB3	HP:0033755	Increased left ventricular end-diastolic volume
11155	LDB3	HP:0002600	Hyporeflexia of lower limbs
11155	LDB3	HP:0008997	Proximal muscle weakness in upper limbs
11155	LDB3	HP:0008969	Leg muscle stiffness
11155	LDB3	HP:0008954	Intrinsic hand muscle atrophy
11155	LDB3	HP:0003325	Limb-girdle muscle weakness
11155	LDB3	HP:0003323	Progressive muscle weakness
11155	LDB3	HP:0003324	Generalized muscle weakness
11155	LDB3	HP:0011808	Decreased patellar reflex
11155	LDB3	HP:0100578	Lipoatrophy
11155	LDB3	HP:0011713	Left bundle branch block
11155	LDB3	HP:0003457	EMG abnormality
11155	LDB3	HP:0003458	EMG: myopathic abnormalities
11155	LDB3	HP:0003445	EMG: neuropathic changes
11155	LDB3	HP:0003584	Late onset
11155	LDB3	HP:0003581	Adult onset
11155	LDB3	HP:0003555	Muscle fiber splitting
11155	LDB3	HP:0009830	Peripheral neuropathy
11155	LDB3	HP:0009072	Decreased Achilles reflex
11155	LDB3	HP:0009073	Progressive proximal muscle weakness
11155	LDB3	HP:0009077	Weakness of long finger extensor muscles
11155	LDB3	HP:0009063	Progressive distal muscle weakness
11155	LDB3	HP:0009027	Foot dorsiflexor weakness
11155	LDB3	HP:0009005	Weakness of the intrinsic hand muscles
11155	LDB3	HP:0004308	Ventricular arrhythmia
11155	LDB3	HP:0030682	Left ventricular noncompaction
11155	LDB3	HP:0012722	Heart block
11155	LDB3	HP:0003198	Myopathy
11155	LDB3	HP:0003236	Elevated circulating creatine kinase concentration
11155	LDB3	HP:0000982	Palmoplantar keratoderma
11155	LDB3	HP:0031374	Ankle weakness
11155	LDB3	HP:0030198	Fatigable weakness of distal limb muscles
11155	LDB3	HP:0005162	Abnormal left ventricular function
11155	LDB3	HP:0001645	Sudden cardiac death
11155	LDB3	HP:0001644	Dilated cardiomyopathy
11155	LDB3	HP:0001626	Abnormality of the cardiovascular system
11155	LDB3	HP:0001635	Congestive heart failure
11155	LDB3	HP:0001638	Cardiomyopathy
11155	LDB3	HP:0006685	Endocardial fibrosis
11155	LDB3	HP:0000407	Sensorineural hearing impairment
11155	LDB3	HP:0001712	Left ventricular hypertrophy
11155	LDB3	HP:0001874	Abnormality of neutrophils
11160	ERLIN2	HP:0002464	Spastic dysarthria
11160	ERLIN2	HP:0002460	Distal muscle weakness
11160	ERLIN2	HP:0007256	Abnormal pyramidal sign
11160	ERLIN2	HP:0010864	Intellectual disability, severe
11160	ERLIN2	HP:0001288	Gait disturbance
11160	ERLIN2	HP:0001285	Spastic tetraparesis
11160	ERLIN2	HP:0001250	Seizure
11160	ERLIN2	HP:0001249	Intellectual disability
11160	ERLIN2	HP:0001263	Global developmental delay
11160	ERLIN2	HP:0001258	Spastic paraplegia
11160	ERLIN2	HP:0001257	Spasticity
11160	ERLIN2	HP:0007350	Hyperreflexia in upper limbs
11160	ERLIN2	HP:0007340	Lower limb muscle weakness
11160	ERLIN2	HP:0002540	Inability to walk
11160	ERLIN2	HP:0001371	Flexion contracture
11160	ERLIN2	HP:0000014	Abnormality of the bladder
11160	ERLIN2	HP:0001347	Hyperreflexia
11160	ERLIN2	HP:0001324	Muscle weakness
11160	ERLIN2	HP:0001344	Absent speech
11160	ERLIN2	HP:0000007	Autosomal recessive inheritance
11160	ERLIN2	HP:0002650	Scoliosis
11160	ERLIN2	HP:0000158	Macroglossia
11160	ERLIN2	HP:0000154	Wide mouth
11160	ERLIN2	HP:0005997	Neck joint contracture
11160	ERLIN2	HP:0002015	Dysphagia
11160	ERLIN2	HP:0003306	Spinal rigidity
11160	ERLIN2	HP:0002064	Spastic gait
11160	ERLIN2	HP:0002061	Lower limb spasticity
11160	ERLIN2	HP:0002079	Hypoplasia of the corpus callosum
11160	ERLIN2	HP:0002141	Gait imbalance
11160	ERLIN2	HP:0003487	Babinski sign
11160	ERLIN2	HP:0002127	Abnormal upper motor neuron morphology
11160	ERLIN2	HP:0002193	Pseudobulbar behavioral symptoms
11160	ERLIN2	HP:0002166	Impaired vibration sensation in the lower limbs
11160	ERLIN2	HP:0100712	Abnormal lumbar spine morphology
11160	ERLIN2	HP:0002378	Hand tremor
11160	ERLIN2	HP:0002376	Developmental regression
11160	ERLIN2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
11160	ERLIN2	HP:0002371	Loss of speech
11160	ERLIN2	HP:0003676	Progressive
11160	ERLIN2	HP:0003677	Slowly progressive
11160	ERLIN2	HP:0000664	Synophrys
11160	ERLIN2	HP:0000666	Horizontal nystagmus
11160	ERLIN2	HP:0006986	Upper limb spasticity
11160	ERLIN2	HP:0031936	Delayed ability to walk
11160	ERLIN2	HP:0000763	Sensory neuropathy
11160	ERLIN2	HP:0011448	Ankle clonus
11160	ERLIN2	HP:0003121	Limb joint contracture
11160	ERLIN2	HP:0003202	Skeletal muscle atrophy
11160	ERLIN2	HP:0005830	Flexion contracture of toe
11160	ERLIN2	HP:0003273	Hip contracture
11160	ERLIN2	HP:0006466	Ankle flexion contracture
11160	ERLIN2	HP:0002808	Kyphosis
11160	ERLIN2	HP:0006380	Knee flexion contracture
11160	ERLIN2	HP:0001583	Rotary nystagmus
11160	ERLIN2	HP:0000218	High palate
11160	ERLIN2	HP:0000377	Abnormal pinna morphology
11160	ERLIN2	HP:0002987	Elbow flexion contracture
11160	ERLIN2	HP:0000322	Short philtrum
11160	ERLIN2	HP:0000486	Strabismus
11160	ERLIN2	HP:0012453	Bilateral wrist flexion contracture
11160	ERLIN2	HP:0001761	Pes cavus
11160	ERLIN2	HP:0000574	Thick eyebrow
11178	LZTS1	HP:0001428	Somatic mutation
11178	LZTS1	HP:0011459	Esophageal carcinoma
11181	TREH	HP:0000007	Autosomal recessive inheritance
11181	TREH	HP:0000118	Phenotypic abnormality
11181	TREH	HP:0002024	Malabsorption
11181	TREH	HP:0002027	Abdominal pain
11181	TREH	HP:0002014	Diarrhea
11181	TREH	HP:0002013	Vomiting
11181	TREH	HP:0003270	Abdominal distention
11181	TREH	HP:0012379	Abnormal circulating enzyme concentration or activity
11190	CEP250	HP:0000007	Autosomal recessive inheritance
11190	CEP250	HP:0007663	Reduced visual acuity
11190	CEP250	HP:0000613	Photophobia
11190	CEP250	HP:0001757	High-frequency sensorineural hearing impairment
11198	SUPT16H	HP:0001182	Tapered finger
11198	SUPT16H	HP:0002414	Spina bifida
11198	SUPT16H	HP:0001249	Intellectual disability
11198	SUPT16H	HP:0001263	Global developmental delay
11198	SUPT16H	HP:0100890	Cyst of the ductus choledochus
11198	SUPT16H	HP:0001357	Plagiocephaly
11198	SUPT16H	HP:0033725	Thin corpus callosum
11198	SUPT16H	HP:0001344	Absent speech
11198	SUPT16H	HP:0001338	Partial agenesis of the corpus callosum
11198	SUPT16H	HP:0000006	Autosomal dominant inheritance
11198	SUPT16H	HP:0002650	Scoliosis
11198	SUPT16H	HP:0000193	Bifid uvula
11198	SUPT16H	HP:0000160	Narrow mouth
11198	SUPT16H	HP:0002020	Gastroesophageal reflux
11198	SUPT16H	HP:0002007	Frontal bossing
11198	SUPT16H	HP:0002144	Tethered cord
11198	SUPT16H	HP:0002194	Delayed gross motor development
11198	SUPT16H	HP:0002263	Exaggerated cupid's bow
11198	SUPT16H	HP:0003593	Infantile onset
11198	SUPT16H	HP:0011971	Dermatographic urticaria
11198	SUPT16H	HP:0011968	Feeding difficulties
11198	SUPT16H	HP:0002384	Focal impaired awareness seizure
11198	SUPT16H	HP:0002360	Sleep disturbance
11198	SUPT16H	HP:0002349	Focal aware seizure
11198	SUPT16H	HP:0003623	Neonatal onset
11198	SUPT16H	HP:0000750	Delayed speech and language development
11198	SUPT16H	HP:0000729	Autistic behavior
11198	SUPT16H	HP:0012799	Unilateral facial palsy
11198	SUPT16H	HP:0000286	Epicanthus
11198	SUPT16H	HP:0000268	Dolichocephaly
11198	SUPT16H	HP:0000378	Cupped ear
11198	SUPT16H	HP:0000391	Thickened helices
11198	SUPT16H	HP:0000358	Posteriorly rotated ears
11198	SUPT16H	HP:0000369	Low-set ears
11198	SUPT16H	HP:0001680	Coarctation of aorta
11198	SUPT16H	HP:0000348	High forehead
11198	SUPT16H	HP:0000316	Hypertelorism
11198	SUPT16H	HP:0001643	Patent ductus arteriosus
11198	SUPT16H	HP:0006695	Atrioventricular canal defect
11198	SUPT16H	HP:0000486	Strabismus
11198	SUPT16H	HP:0012471	Thick vermilion border
11198	SUPT16H	HP:0000494	Downslanted palpebral fissures
11198	SUPT16H	HP:0012450	Chronic constipation
11198	SUPT16H	HP:0000455	Broad nasal tip
11198	SUPT16H	HP:0000473	Torticollis
11198	SUPT16H	HP:0000431	Wide nasal bridge
11200	CHEK2	HP:0009919	Retinoblastoma
11200	CHEK2	HP:0007378	Neoplasm of the gastrointestinal tract
11200	CHEK2	HP:0001386	Joint swelling
11200	CHEK2	HP:0002664	Neoplasm
11200	CHEK2	HP:0002669	Osteosarcoma
11200	CHEK2	HP:0002665	Lymphoma
11200	CHEK2	HP:0000006	Autosomal dominant inheritance
11200	CHEK2	HP:0012189	Hodgkin lymphoma
11200	CHEK2	HP:0012174	Glioblastoma multiforme
11200	CHEK2	HP:0012125	Prostate cancer
11200	CHEK2	HP:0012126	Stomach cancer
11200	CHEK2	HP:0025435	Increased circulating lactate dehydrogenase concentration
11200	CHEK2	HP:0002797	Osteolysis
11200	CHEK2	HP:0001428	Somatic mutation
11200	CHEK2	HP:0002756	Pathologic fracture
11200	CHEK2	HP:0100526	Neoplasm of the lung
11200	CHEK2	HP:0009592	Astrocytoma
11200	CHEK2	HP:0100768	Choriocarcinoma
11200	CHEK2	HP:0009733	Glioma
11200	CHEK2	HP:0009726	Renal neoplasm
11200	CHEK2	HP:0100743	Neoplasm of the rectum
11200	CHEK2	HP:0004808	Acute myeloid leukemia
11200	CHEK2	HP:0100605	Neoplasm of the larynx
11200	CHEK2	HP:0200063	Colorectal polyposis
11200	CHEK2	HP:0100615	Ovarian neoplasm
11200	CHEK2	HP:0010788	Testicular neoplasm
11200	CHEK2	HP:0005584	Renal cell carcinoma
11200	CHEK2	HP:0001945	Fever
11200	CHEK2	HP:0001909	Leukemia
11200	CHEK2	HP:0003002	Breast carcinoma
11200	CHEK2	HP:0003003	Colon cancer
11200	CHEK2	HP:0100006	Neoplasm of the central nervous system
11200	CHEK2	HP:0003155	Elevated circulating alkaline phosphatase concentration
11200	CHEK2	HP:0045040	Abnormal lactate dehydrogenase level
11200	CHEK2	HP:0100242	Sarcoma
11200	CHEK2	HP:0000944	Abnormal metaphysis morphology
11200	CHEK2	HP:0012288	Neoplasm of head and neck
11200	CHEK2	HP:0030070	Central primitive neuroectodermal tumor
11200	CHEK2	HP:0002894	Neoplasm of the pancreas
11200	CHEK2	HP:0002890	Thyroid carcinoma
11200	CHEK2	HP:0002891	Uterine leiomyosarcoma
11200	CHEK2	HP:0002888	Ependymoma
11200	CHEK2	HP:0002885	Medulloblastoma
11200	CHEK2	HP:0002861	Melanoma
11200	CHEK2	HP:0002858	Meningioma
11200	CHEK2	HP:0002859	Rhabdomyosarcoma
11200	CHEK2	HP:0002863	Myelodysplasia
11200	CHEK2	HP:0011027	Abnormal fallopian tube morphology
11200	CHEK2	HP:0006491	Abnormal tibial metaphysis morphology
11200	CHEK2	HP:0006489	Abnormal femoral metaphysis morphology
11200	CHEK2	HP:0006753	Neoplasm of the stomach
11200	CHEK2	HP:0006740	Transitional cell carcinoma of the bladder
11200	CHEK2	HP:0006744	Adrenocortical carcinoma
11200	CHEK2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
11200	CHEK2	HP:0030406	Primary peritoneal carcinoma
11200	CHEK2	HP:0006721	Acute lymphoblastic leukemia
11200	CHEK2	HP:0001824	Weight loss
11200	CHEK2	HP:0012539	Non-Hodgkin lymphoma
11200	CHEK2	HP:0030392	Choroid plexus carcinoma
11200	CHEK2	HP:0012531	Pain
11212	PLPBP	HP:0025116	Fetal distress
11212	PLPBP	HP:0002465	Poor speech
11212	PLPBP	HP:0020221	Clonic seizure
11212	PLPBP	HP:0020217	Focal aware motor seizure
11212	PLPBP	HP:0010851	EEG with burst suppression
11212	PLPBP	HP:0001276	Hypertonia
11212	PLPBP	HP:0001270	Motor delay
11212	PLPBP	HP:0001250	Seizure
11212	PLPBP	HP:0001252	Hypotonia
11212	PLPBP	HP:0001249	Intellectual disability
11212	PLPBP	HP:0001263	Global developmental delay
11212	PLPBP	HP:0007359	Focal-onset seizure
11212	PLPBP	HP:0002521	Hypsarrhythmia
11212	PLPBP	HP:0000007	Autosomal recessive inheritance
11212	PLPBP	HP:0001336	Myoclonus
11212	PLPBP	HP:0002643	Neonatal respiratory distress
11212	PLPBP	HP:0030917	Low APGAR score
11212	PLPBP	HP:0002093	Respiratory insufficiency
11212	PLPBP	HP:0002069	Bilateral tonic-clonic seizure
11212	PLPBP	HP:0002079	Hypoplasia of the corpus callosum
11212	PLPBP	HP:0002151	Increased serum lactate
11212	PLPBP	HP:0002119	Ventriculomegaly
11212	PLPBP	HP:0002133	Status epilepticus
11212	PLPBP	HP:0002104	Apnea
11212	PLPBP	HP:0002188	Delayed CNS myelination
11212	PLPBP	HP:0003593	Infantile onset
11212	PLPBP	HP:0002280	Enlarged cisterna magna
11212	PLPBP	HP:0011968	Feeding difficulties
11212	PLPBP	HP:0020045	Esodeviation
11212	PLPBP	HP:0010841	Multifocal epileptiform discharges
11212	PLPBP	HP:0010845	EEG with generalized slow activity
11212	PLPBP	HP:0010819	Atonic seizure
11212	PLPBP	HP:0003623	Neonatal onset
11212	PLPBP	HP:0001943	Hypoglycemia
11212	PLPBP	HP:0001942	Metabolic acidosis
11212	PLPBP	HP:0000629	Periorbital fullness
11212	PLPBP	HP:0000737	Irritability
11212	PLPBP	HP:0000750	Delayed speech and language development
11212	PLPBP	HP:0012704	Widened subarachnoid space
11212	PLPBP	HP:0000711	Restlessness
11212	PLPBP	HP:0012768	Neonatal asphyxia
11212	PLPBP	HP:0012758	Neurodevelopmental delay
11212	PLPBP	HP:0003128	Lactic acidosis
11212	PLPBP	HP:0000273	Facial grimacing
11212	PLPBP	HP:0000219	Thin upper lip vermilion
11212	PLPBP	HP:0001557	Prenatal movement abnormality
11212	PLPBP	HP:0011097	Epileptic spasm
11212	PLPBP	HP:0000343	Long philtrum
11212	PLPBP	HP:0032792	Tonic seizure
11212	PLPBP	HP:0032794	Myoclonic seizure
11212	PLPBP	HP:0011199	EEG with generalized sharp slow waves
11212	PLPBP	HP:0011198	EEG with generalized epileptiform discharges
11212	PLPBP	HP:0011166	Focal myoclonic seizure
11212	PLPBP	HP:0011152	Early onset absence seizures
11212	PLPBP	HP:0000496	Abnormality of eye movement
11212	PLPBP	HP:0012444	Brain atrophy
11212	PLPBP	HP:0012420	Meconium stained amniotic fluid
11212	PLPBP	HP:0005484	Secondary microcephaly
11212	PLPBP	HP:0000582	Upslanted palpebral fissure
11222	MRPL3	HP:0001263	Global developmental delay
11222	MRPL3	HP:0003819	Death in childhood
11222	MRPL3	HP:0001397	Hepatic steatosis
11222	MRPL3	HP:0000007	Autosomal recessive inheritance
11222	MRPL3	HP:0003348	Hyperalaninemia
11222	MRPL3	HP:0002094	Dyspnea
11222	MRPL3	HP:0030948	Elevated gamma-glutamyltransferase level
11222	MRPL3	HP:0002151	Increased serum lactate
11222	MRPL3	HP:0003593	Infantile onset
11222	MRPL3	HP:0002240	Hepatomegaly
11222	MRPL3	HP:0011968	Feeding difficulties
11222	MRPL3	HP:0003623	Neonatal onset
11222	MRPL3	HP:0001970	Tubulointerstitial nephritis
11222	MRPL3	HP:0001942	Metabolic acidosis
11222	MRPL3	HP:0001993	Ketoacidosis
11222	MRPL3	HP:0031956	Elevated circulating aspartate aminotransferase concentration
11222	MRPL3	HP:0031962	Elevated serum anion gap
11222	MRPL3	HP:0031964	Elevated circulating alanine aminotransferase concentration
11222	MRPL3	HP:0032653	Elevated lactate:pyruvate ratio
11222	MRPL3	HP:0001508	Failure to thrive
11222	MRPL3	HP:0001655	Patent foramen ovale
11222	MRPL3	HP:0001639	Hypertrophic cardiomyopathy
11224	RPL35	HP:0009944	Partial duplication of thumb phalanx
11224	RPL35	HP:0001199	Triphalangeal thumb
11224	RPL35	HP:0008551	Microtia
11224	RPL35	HP:0001254	Lethargy
11224	RPL35	HP:0001227	Abnormality of the thenar eminence
11224	RPL35	HP:0000085	Horseshoe kidney
11224	RPL35	HP:0000047	Hypospadias
11224	RPL35	HP:0002669	Osteosarcoma
11224	RPL35	HP:0000006	Autosomal dominant inheritance
11224	RPL35	HP:0000185	Cleft soft palate
11224	RPL35	HP:0012133	Erythroid hypoplasia
11224	RPL35	HP:0410030	Cleft lip
11224	RPL35	HP:0000119	Abnormality of the genitourinary system
11224	RPL35	HP:0000104	Renal agenesis
11224	RPL35	HP:0040276	Adenocarcinoma of the colon
11224	RPL35	HP:0011904	Persistence of hemoglobin F
11224	RPL35	HP:0004808	Acute myeloid leukemia
11224	RPL35	HP:0001087	Developmental glaucoma
11224	RPL35	HP:0020118	Radial artery aplasia
11224	RPL35	HP:0009777	Absent thumb
11224	RPL35	HP:0009778	Short thumb
11224	RPL35	HP:0005532	Macrocytic dyserythropoietic anemia
11224	RPL35	HP:0005518	Increased mean corpuscular volume
11224	RPL35	HP:0001903	Anemia
11224	RPL35	HP:0004322	Short stature
11224	RPL35	HP:0012758	Neurodevelopmental delay
11224	RPL35	HP:0000912	Sprengel anomaly
11224	RPL35	HP:0033074	Steroid-responsive anemia
11224	RPL35	HP:0000980	Pallor
11224	RPL35	HP:0000286	Epicanthus
11224	RPL35	HP:0000294	Low anterior hairline
11224	RPL35	HP:0002817	Abnormality of the upper limb
11224	RPL35	HP:0000234	Abnormality of the head
11224	RPL35	HP:0000252	Microcephaly
11224	RPL35	HP:0000218	High palate
11224	RPL35	HP:0002863	Myelodysplasia
11224	RPL35	HP:0001518	Small for gestational age
11224	RPL35	HP:0001510	Growth delay
11224	RPL35	HP:0000369	Low-set ears
11224	RPL35	HP:0001680	Coarctation of aorta
11224	RPL35	HP:0000347	Micrognathia
11224	RPL35	HP:0000316	Hypertelorism
11224	RPL35	HP:0001629	Ventricular septal defect
11224	RPL35	HP:0001627	Abnormal heart morphology
11224	RPL35	HP:0001631	Atrial septal defect
11224	RPL35	HP:0005280	Depressed nasal bridge
11224	RPL35	HP:0000486	Strabismus
11224	RPL35	HP:0001790	Nonimmune hydrops fetalis
11224	RPL35	HP:0000470	Short neck
11224	RPL35	HP:0000465	Webbed neck
11224	RPL35	HP:0030270	Elevated red cell adenosine deaminase level
11224	RPL35	HP:0012410	Pure red cell aplasia
11224	RPL35	HP:0000431	Wide nasal bridge
11224	RPL35	HP:0006758	Malignant genitourinary tract tumor
11224	RPL35	HP:0000519	Developmental cataract
11224	RPL35	HP:0000508	Ptosis
11224	RPL35	HP:0001894	Thrombocytosis
11224	RPL35	HP:0001896	Reticulocytopenia
11224	RPL35	HP:0001895	Normochromic anemia
11224	RPL35	HP:0001882	Leukopenia
11224	RPL35	HP:0001873	Thrombocytopenia
11224	RPL35	HP:0001875	Neutropenia
11231	SEC63	HP:0008872	Feeding difficulties in infancy
11231	SEC63	HP:0000006	Autosomal dominant inheritance
11231	SEC63	HP:0002617	Vascular dilatation
11231	SEC63	HP:0001407	Hepatic cysts
11231	SEC63	HP:0002020	Gastroesophageal reflux
11231	SEC63	HP:0002027	Abdominal pain
11231	SEC63	HP:0002086	Abnormality of the respiratory system
11231	SEC63	HP:0002093	Respiratory insufficiency
11231	SEC63	HP:0003418	Back pain
11231	SEC63	HP:0003573	Increased total bilirubin
11231	SEC63	HP:0002240	Hepatomegaly
11231	SEC63	HP:0002239	Gastrointestinal hemorrhage
11231	SEC63	HP:0003581	Adult onset
11231	SEC63	HP:0005562	Multiple renal cysts
11231	SEC63	HP:0003270	Abdominal distention
11231	SEC63	HP:0006557	Polycystic liver disease
11231	SEC63	HP:0001732	Abnormality of the pancreas
11232	POLG2	HP:0007302	Bipolar affective disorder
11232	POLG2	HP:0003731	Quadriceps muscle weakness
11232	POLG2	HP:0003737	Mitochondrial myopathy
11232	POLG2	HP:0001290	Generalized hypotonia
11232	POLG2	HP:0001276	Hypertonia
11232	POLG2	HP:0001272	Cerebellar atrophy
11232	POLG2	HP:0001288	Gait disturbance
11232	POLG2	HP:0001254	Lethargy
11232	POLG2	HP:0001250	Seizure
11232	POLG2	HP:0001252	Hypotonia
11232	POLG2	HP:0001251	Ataxia
11232	POLG2	HP:0002578	Gastroparesis
11232	POLG2	HP:0001265	Hyporeflexia
11232	POLG2	HP:0001260	Dysarthria
11232	POLG2	HP:0001263	Global developmental delay
11232	POLG2	HP:0001396	Cholestasis
11232	POLG2	HP:0001399	Hepatic failure
11232	POLG2	HP:0001392	Abnormality of the liver
11232	POLG2	HP:0001349	Facial diplegia
11232	POLG2	HP:0000017	Nocturia
11232	POLG2	HP:0000007	Autosomal recessive inheritance
11232	POLG2	HP:0001337	Tremor
11232	POLG2	HP:0000006	Autosomal dominant inheritance
11232	POLG2	HP:0000141	Amenorrhea
11232	POLG2	HP:0012108	Open angle glaucoma
11232	POLG2	HP:0012103	Abnormality of the mitochondrion
11232	POLG2	HP:0002020	Gastroesophageal reflux
11232	POLG2	HP:0002019	Constipation
11232	POLG2	HP:0003326	Myalgia
11232	POLG2	HP:0002015	Dysphagia
11232	POLG2	HP:0003323	Progressive muscle weakness
11232	POLG2	HP:0100543	Cognitive impairment
11232	POLG2	HP:0002093	Respiratory insufficiency
11232	POLG2	HP:0002067	Bradykinesia
11232	POLG2	HP:0002066	Gait ataxia
11232	POLG2	HP:0003394	Muscle spasm
11232	POLG2	HP:0002063	Rigidity
11232	POLG2	HP:0002079	Hypoplasia of the corpus callosum
11232	POLG2	HP:0002076	Migraine
11232	POLG2	HP:0002071	Abnormality of extrapyramidal motor function
11232	POLG2	HP:0003388	Easy fatigability
11232	POLG2	HP:0011713	Left bundle branch block
11232	POLG2	HP:0040270	Impaired glucose tolerance
11232	POLG2	HP:0003477	Peripheral axonal neuropathy
11232	POLG2	HP:0002151	Increased serum lactate
11232	POLG2	HP:0002120	Cerebral cortical atrophy
11232	POLG2	HP:0003458	EMG: myopathic abnormalities
11232	POLG2	HP:0003438	Absent Achilles reflex
11232	POLG2	HP:0008209	Premature ovarian insufficiency
11232	POLG2	HP:0003573	Increased total bilirubin
11232	POLG2	HP:0002240	Hepatomegaly
11232	POLG2	HP:0100704	Cerebral visual impairment
11232	POLG2	HP:0003581	Adult onset
11232	POLG2	HP:0003551	Difficulty climbing stairs
11232	POLG2	HP:0003547	Shoulder girdle muscle weakness
11232	POLG2	HP:0003546	Exercise intolerance
11232	POLG2	HP:0007042	Focal white matter lesions
11232	POLG2	HP:0011968	Feeding difficulties
11232	POLG2	HP:0008322	Abnormal mitochondrial morphology
11232	POLG2	HP:0010628	Facial palsy
11232	POLG2	HP:0002396	Cogwheel rigidity
11232	POLG2	HP:0003690	Limb muscle weakness
11232	POLG2	HP:0002359	Frequent falls
11232	POLG2	HP:0003688	Cytochrome C oxidase-negative muscle fibers
11232	POLG2	HP:0003689	Multiple mitochondrial DNA deletions
11232	POLG2	HP:0002375	Hypokinesia
11232	POLG2	HP:0003676	Progressive
11232	POLG2	HP:0002355	Difficulty walking
11232	POLG2	HP:0002322	Resting tremor
11232	POLG2	HP:0002315	Headache
11232	POLG2	HP:0009830	Peripheral neuropathy
11232	POLG2	HP:0001962	Palpitations
11232	POLG2	HP:0000648	Optic atrophy
11232	POLG2	HP:0001946	Ketosis
11232	POLG2	HP:0001942	Metabolic acidosis
11232	POLG2	HP:0001952	Glucose intolerance
11232	POLG2	HP:0000602	Ophthalmoplegia
11232	POLG2	HP:0012664	Reduced left ventricular ejection fraction
11232	POLG2	HP:0004308	Ventricular arrhythmia
11232	POLG2	HP:0000739	Anxiety
11232	POLG2	HP:0000716	Depression
11232	POLG2	HP:0003198	Myopathy
11232	POLG2	HP:0000853	Goiter
11232	POLG2	HP:0000836	Hyperthyroidism
11232	POLG2	HP:0000819	Diabetes mellitus
11232	POLG2	HP:0000821	Hypothyroidism
11232	POLG2	HP:0003236	Elevated circulating creatine kinase concentration
11232	POLG2	HP:0003200	Ragged-red muscle fibers
11232	POLG2	HP:0003270	Abdominal distention
11232	POLG2	HP:0034306	Ventricular bigeminy
11232	POLG2	HP:0000952	Jaundice
11232	POLG2	HP:0000969	Edema
11232	POLG2	HP:0000939	Osteoporosis
11232	POLG2	HP:0011675	Arrhythmia
11232	POLG2	HP:0005110	Atrial fibrillation
11232	POLG2	HP:0002875	Exertional dyspnea
11232	POLG2	HP:0001522	Death in infancy
11232	POLG2	HP:0001508	Failure to thrive
11232	POLG2	HP:0012378	Fatigue
11232	POLG2	HP:0002910	Elevated hepatic transaminase
11232	POLG2	HP:0000365	Hearing impairment
11232	POLG2	HP:0000338	Hypomimic face
11232	POLG2	HP:0001644	Dilated cardiomyopathy
11232	POLG2	HP:0001712	Left ventricular hypertrophy
11232	POLG2	HP:0000496	Abnormality of eye movement
11232	POLG2	HP:0025710	Late young adult onset
11232	POLG2	HP:0000518	Cataract
11232	POLG2	HP:0000508	Ptosis
11232	POLG2	HP:0000505	Visual impairment
11232	POLG2	HP:0000597	Ophthalmoparesis
11232	POLG2	HP:0000590	Progressive external ophthalmoplegia
11232	POLG2	HP:0000572	Visual loss
11232	POLG2	HP:0000544	External ophthalmoplegia
11234	HPS5	HP:0001107	Ocular albinism
11234	HPS5	HP:0000007	Autosomal recessive inheritance
11234	HPS5	HP:0007663	Reduced visual acuity
11234	HPS5	HP:0000132	Menorrhagia
11234	HPS5	HP:0033263	Absent platelet dense granules
11234	HPS5	HP:0003593	Infantile onset
11234	HPS5	HP:0004866	Impaired ADP-induced platelet aggregation
11234	HPS5	HP:0001022	Albinism
11234	HPS5	HP:0100608	Metrorrhagia
11234	HPS5	HP:0003623	Neonatal onset
11234	HPS5	HP:0003621	Juvenile onset
11234	HPS5	HP:0000639	Nystagmus
11234	HPS5	HP:0000666	Horizontal nystagmus
11234	HPS5	HP:0003010	Prolonged bleeding time
11234	HPS5	HP:0012805	Iris transillumination defect
11234	HPS5	HP:0000978	Bruising susceptibility
11234	HPS5	HP:0007750	Hypoplasia of the fovea
11234	HPS5	HP:0000486	Strabismus
11234	HPS5	HP:0000421	Epistaxis
11234	HPS5	HP:0001873	Thrombocytopenia
11235	PDCD10	HP:0033522	Cerebral cavernous malformation
11235	PDCD10	HP:0001250	Seizure
11235	PDCD10	HP:0002572	Episodic vomiting
11235	PDCD10	HP:0002516	Increased intracranial pressure
11235	PDCD10	HP:0001342	Cerebral hemorrhage
11235	PDCD10	HP:0000006	Autosomal dominant inheritance
11235	PDCD10	HP:0002650	Scoliosis
11235	PDCD10	HP:0100543	Cognitive impairment
11235	PDCD10	HP:0100561	Spinal cord lesion
11235	PDCD10	HP:0003470	Paralysis
11235	PDCD10	HP:0001028	Hemangioma
11235	PDCD10	HP:0002315	Headache
11235	PDCD10	HP:0003621	Juvenile onset
11235	PDCD10	HP:0012749	Focal T2 hypointense brainstem lesion
11235	PDCD10	HP:0012748	Focal T2 hyperintense brainstem lesion
11235	PDCD10	HP:0012721	Venous malformation
11235	PDCD10	HP:0011513	Retinal cavernous angioma
11235	PDCD10	HP:0002858	Meningioma
11235	PDCD10	HP:0007872	Choroidal hemangioma
11235	PDCD10	HP:0030430	Neuroma
11235	PDCD10	HP:0011276	Vascular skin abnormality
11236	RNF139	HP:0003745	Sporadic
11236	RNF139	HP:0005584	Renal cell carcinoma
11253	MAN1B1	HP:0002465	Poor speech
11253	MAN1B1	HP:0010864	Intellectual disability, severe
11253	MAN1B1	HP:0001270	Motor delay
11253	MAN1B1	HP:0001256	Intellectual disability, mild
11253	MAN1B1	HP:0001250	Seizure
11253	MAN1B1	HP:0001252	Hypotonia
11253	MAN1B1	HP:0001251	Ataxia
11253	MAN1B1	HP:0001249	Intellectual disability
11253	MAN1B1	HP:0002591	Polyphagia
11253	MAN1B1	HP:0001263	Global developmental delay
11253	MAN1B1	HP:0002553	Highly arched eyebrow
11253	MAN1B1	HP:0001371	Flexion contracture
11253	MAN1B1	HP:0001388	Joint laxity
11253	MAN1B1	HP:0001382	Joint hypermobility
11253	MAN1B1	HP:0007565	Multiple cafe-au-lait spots
11253	MAN1B1	HP:0000007	Autosomal recessive inheritance
11253	MAN1B1	HP:0001321	Cerebellar hypoplasia
11253	MAN1B1	HP:0008947	Infantile muscular hypotonia
11253	MAN1B1	HP:0004691	2-3 toe syndactyly
11253	MAN1B1	HP:0002007	Frontal bossing
11253	MAN1B1	HP:0002136	Broad-based gait
11253	MAN1B1	HP:0002342	Intellectual disability, moderate
11253	MAN1B1	HP:0002322	Resting tremor
11253	MAN1B1	HP:0010814	Abnormal position of hair whorl
11253	MAN1B1	HP:0010801	Underdeveloped nasolabial fold
11253	MAN1B1	HP:0007165	Periventricular heterotopia
11253	MAN1B1	HP:0004209	Clinodactyly of the 5th finger
11253	MAN1B1	HP:0001956	Truncal obesity
11253	MAN1B1	HP:0001999	Abnormal facial shape
11253	MAN1B1	HP:0004322	Short stature
11253	MAN1B1	HP:0000768	Pectus carinatum
11253	MAN1B1	HP:0000718	Aggressive behavior
11253	MAN1B1	HP:0000717	Autism
11253	MAN1B1	HP:0000729	Autistic behavior
11253	MAN1B1	HP:0000708	Atypical behavior
11253	MAN1B1	HP:0003186	Inverted nipples
11253	MAN1B1	HP:0004523	Long eyebrows
11253	MAN1B1	HP:0045075	Sparse eyebrow
11253	MAN1B1	HP:0000973	Cutis laxa
11253	MAN1B1	HP:0000286	Epicanthus
11253	MAN1B1	HP:0000256	Macrocephaly
11253	MAN1B1	HP:0000276	Long face
11253	MAN1B1	HP:0000272	Malar flattening
11253	MAN1B1	HP:0000268	Dolichocephaly
11253	MAN1B1	HP:0000219	Thin upper lip vermilion
11253	MAN1B1	HP:0001513	Obesity
11253	MAN1B1	HP:0000369	Low-set ears
11253	MAN1B1	HP:0012301	Type II transferrin isoform profile
11253	MAN1B1	HP:0000319	Smooth philtrum
11253	MAN1B1	HP:0000316	Hypertelorism
11253	MAN1B1	HP:0000331	Short chin
11253	MAN1B1	HP:0000322	Short philtrum
11253	MAN1B1	HP:0000307	Pointed chin
11253	MAN1B1	HP:0005338	Sparse lateral eyebrow
11253	MAN1B1	HP:0000400	Macrotia
11253	MAN1B1	HP:0000486	Strabismus
11253	MAN1B1	HP:0012471	Thick vermilion border
11253	MAN1B1	HP:0012472	Eclabion
11253	MAN1B1	HP:0000494	Downslanted palpebral fissures
11253	MAN1B1	HP:0000470	Short neck
11253	MAN1B1	HP:0012443	Abnormality of brain morphology
11253	MAN1B1	HP:0000448	Prominent nose
11253	MAN1B1	HP:0000445	Wide nose
11253	MAN1B1	HP:0000414	Bulbous nose
11253	MAN1B1	HP:0000431	Wide nasal bridge
11253	MAN1B1	HP:0005469	Flat occiput
11253	MAN1B1	HP:0000527	Long eyelashes
11253	MAN1B1	HP:0011229	Broad eyebrow
11253	MAN1B1	HP:0000540	Hypermetropia
11254	SLC6A14	HP:0032261	Nontuberculous mycobacterial pulmonary infection
11254	SLC6A14	HP:0002570	Steatorrhea
11254	SLC6A14	HP:0032342	Reduced forced expiratory volume in one second
11254	SLC6A14	HP:0001392	Abnormality of the liver
11254	SLC6A14	HP:0001394	Cirrhosis
11254	SLC6A14	HP:0002726	Recurrent Staphylococcus aureus infections
11254	SLC6A14	HP:0002724	Recurrent Aspergillus infections
11254	SLC6A14	HP:0002024	Malabsorption
11254	SLC6A14	HP:0002020	Gastroesophageal reflux
11254	SLC6A14	HP:0002035	Rectal prolapse
11254	SLC6A14	HP:0002099	Asthma
11254	SLC6A14	HP:0100582	Nasal polyposis
11254	SLC6A14	HP:0002110	Bronchiectasis
11254	SLC6A14	HP:0002107	Pneumothorax
11254	SLC6A14	HP:0002105	Hemoptysis
11254	SLC6A14	HP:0002205	Recurrent respiratory infections
11254	SLC6A14	HP:0000739	Anxiety
11254	SLC6A14	HP:0000716	Depression
11254	SLC6A14	HP:0000787	Nephrolithiasis
11254	SLC6A14	HP:0004401	Meconium ileus
11254	SLC6A14	HP:0012873	Absent vas deferens
11254	SLC6A14	HP:0045082	Decreased body mass index
11254	SLC6A14	HP:0000939	Osteoporosis
11254	SLC6A14	HP:0000938	Osteopenia
11254	SLC6A14	HP:0012236	Elevated sweat chloride
11254	SLC6A14	HP:0000246	Sinusitis
11254	SLC6A14	HP:0001508	Failure to thrive
11254	SLC6A14	HP:0002842	Recurrent Burkholderia cepacia infections
11254	SLC6A14	HP:0006536	Airway obstruction
11254	SLC6A14	HP:0002910	Elevated hepatic transaminase
11254	SLC6A14	HP:0000365	Hearing impairment
11254	SLC6A14	HP:0005376	Recurrent Haemophilus influenzae infections
11254	SLC6A14	HP:0001738	Exocrine pancreatic insufficiency
11261	CHP1	HP:0002460	Distal muscle weakness
11261	CHP1	HP:0007256	Abnormal pyramidal sign
11261	CHP1	HP:0001252	Hypotonia
11261	CHP1	HP:0001251	Ataxia
11261	CHP1	HP:0001249	Intellectual disability
11261	CHP1	HP:0001257	Spasticity
11261	CHP1	HP:0001347	Hyperreflexia
11261	CHP1	HP:0000007	Autosomal recessive inheritance
11261	CHP1	HP:0001310	Dysmetria
11261	CHP1	HP:0007663	Reduced visual acuity
11261	CHP1	HP:0008936	Axial hypotonia
11261	CHP1	HP:0002750	Delayed skeletal maturation
11261	CHP1	HP:0003487	Babinski sign
11261	CHP1	HP:0008209	Premature ovarian insufficiency
11261	CHP1	HP:0003693	Distal amyotrophy
11261	CHP1	HP:0002359	Frequent falls
11261	CHP1	HP:0003621	Juvenile onset
11261	CHP1	HP:0006855	Cerebellar vermis atrophy
11261	CHP1	HP:0006886	Impaired distal vibration sensation
11261	CHP1	HP:0031993	Hoffmann sign
11261	CHP1	HP:0011463	Childhood onset
11261	CHP1	HP:0001510	Growth delay
11261	CHP1	HP:0007941	Limited extraocular movements
11261	CHP1	HP:0001765	Hammertoe
11261	CHP1	HP:0001761	Pes cavus
11261	CHP1	HP:0000514	Slow saccadic eye movements
11274	USP18	HP:0025116	Fetal distress
11274	USP18	HP:0001290	Generalized hypotonia
11274	USP18	HP:0001254	Lethargy
11274	USP18	HP:0001250	Seizure
11274	USP18	HP:0002514	Cerebral calcification
11274	USP18	HP:0033677	Acute respiratory distress syndrome
11274	USP18	HP:0001342	Cerebral hemorrhage
11274	USP18	HP:0000007	Autosomal recessive inheritance
11274	USP18	HP:0001321	Cerebellar hypoplasia
11274	USP18	HP:0002093	Respiratory insufficiency
11274	USP18	HP:0005932	Abnormal renal corticomedullary differentiation
11274	USP18	HP:0002119	Ventriculomegaly
11274	USP18	HP:0002126	Polymicrogyria
11274	USP18	HP:0002240	Hepatomegaly
11274	USP18	HP:0002202	Pleural effusion
11274	USP18	HP:0002282	Gray matter heterotopia
11274	USP18	HP:0003623	Neonatal onset
11274	USP18	HP:0006956	Lateral ventricle dilatation
11274	USP18	HP:0011461	Fetal onset
11274	USP18	HP:0003128	Lactic acidosis
11274	USP18	HP:0000883	Thin ribs
11274	USP18	HP:0000967	Petechiae
11274	USP18	HP:0000252	Microcephaly
11274	USP18	HP:0001541	Ascites
11274	USP18	HP:0002910	Elevated hepatic transaminase
11274	USP18	HP:0001684	Secundum atrial septal defect
11274	USP18	HP:0001643	Patent ductus arteriosus
11274	USP18	HP:0001662	Bradycardia
11274	USP18	HP:0001873	Thrombocytopenia
11277	TREX1	HP:0001147	Retinal exudate
11277	TREX1	HP:0001123	Visual field defect
11277	TREX1	HP:0002448	Progressive encephalopathy
11277	TREX1	HP:0007321	Deep white matter hypodensities
11277	TREX1	HP:0007305	CNS demyelination
11277	TREX1	HP:0007256	Abnormal pyramidal sign
11277	TREX1	HP:0007229	Intracerebral periventricular calcifications
11277	TREX1	HP:0002421	Poor head control
11277	TREX1	HP:0002415	Leukodystrophy
11277	TREX1	HP:0001297	Stroke
11277	TREX1	HP:0100806	Sepsis
11277	TREX1	HP:0001276	Hypertonia
11277	TREX1	HP:0001269	Hemiparesis
11277	TREX1	HP:0001250	Seizure
11277	TREX1	HP:0001260	Dysarthria
11277	TREX1	HP:0001263	Global developmental delay
11277	TREX1	HP:0001257	Spasticity
11277	TREX1	HP:0410263	Brain imaging abnormality
11277	TREX1	HP:0007352	Cerebellar calcifications
11277	TREX1	HP:0002540	Inability to walk
11277	TREX1	HP:0002518	Abnormal periventricular white matter morphology
11277	TREX1	HP:0002514	Cerebral calcification
11277	TREX1	HP:0002510	Spastic tetraplegia
11277	TREX1	HP:0002500	Abnormal cerebral white matter morphology
11277	TREX1	HP:0000096	Glomerular sclerosis
11277	TREX1	HP:0000093	Proteinuria
11277	TREX1	HP:0001369	Arthritis
11277	TREX1	HP:0000054	Micropenis
11277	TREX1	HP:0001357	Plagiocephaly
11277	TREX1	HP:0008872	Feeding difficulties in infancy
11277	TREX1	HP:0007460	Autoamputation of digits
11277	TREX1	HP:0033726	Lupus nephritis
11277	TREX1	HP:0001332	Dystonia
11277	TREX1	HP:0025300	Malar rash
11277	TREX1	HP:0001344	Absent speech
11277	TREX1	HP:0000007	Autosomal recessive inheritance
11277	TREX1	HP:0001337	Tremor
11277	TREX1	HP:0000006	Autosomal dominant inheritance
11277	TREX1	HP:0002633	Vasculitis
11277	TREX1	HP:0002650	Scoliosis
11277	TREX1	HP:0008936	Axial hypotonia
11277	TREX1	HP:0000123	Nephritis
11277	TREX1	HP:0000112	Nephropathy
11277	TREX1	HP:0001433	Hepatosplenomegaly
11277	TREX1	HP:0001413	Micronodular cirrhosis
11277	TREX1	HP:0002725	Systemic lupus erythematosus
11277	TREX1	HP:0040328	Focal hyperintensity of cerebral white matter on MRI
11277	TREX1	HP:0040331	Focal hypointensity of cerebral white matter on MRI
11277	TREX1	HP:0002083	Migraine without aura
11277	TREX1	HP:0100543	Cognitive impairment
11277	TREX1	HP:0002090	Pneumonia
11277	TREX1	HP:0002062	Morphological abnormality of the pyramidal tract
11277	TREX1	HP:0002079	Hypoplasia of the corpus callosum
11277	TREX1	HP:0002076	Migraine
11277	TREX1	HP:0002077	Migraine with aura
11277	TREX1	HP:0030948	Elevated gamma-glutamyltransferase level
11277	TREX1	HP:0002071	Abnormality of extrapyramidal motor function
11277	TREX1	HP:0002059	Cerebral atrophy
11277	TREX1	HP:0100578	Lipoatrophy
11277	TREX1	HP:0002139	Arrhinencephaly
11277	TREX1	HP:0002119	Ventriculomegaly
11277	TREX1	HP:0002135	Basal ganglia calcification
11277	TREX1	HP:0002132	Porencephalic cyst
11277	TREX1	HP:0002102	Pleuritis
11277	TREX1	HP:0002186	Apraxia
11277	TREX1	HP:0002187	Intellectual disability, profound
11277	TREX1	HP:0002197	Generalized-onset seizure
11277	TREX1	HP:0003493	Antinuclear antibody positivity
11277	TREX1	HP:0008223	Compensated hypothyroidism
11277	TREX1	HP:0011834	Moyamoya phenomenon
11277	TREX1	HP:0003593	Infantile onset
11277	TREX1	HP:0002240	Hepatomegaly
11277	TREX1	HP:0002239	Gastrointestinal hemorrhage
11277	TREX1	HP:0003581	Adult onset
11277	TREX1	HP:0003552	Muscle stiffness
11277	TREX1	HP:0003565	Elevated erythrocyte sedimentation rate
11277	TREX1	HP:0200149	CSF lymphocytic pleiocytosis
11277	TREX1	HP:0009709	Increased CSF interferon alpha
11277	TREX1	HP:0009710	Chilblains
11277	TREX1	HP:0009704	Chronic CSF lymphocytosis
11277	TREX1	HP:0007017	Progressive forgetfulness
11277	TREX1	HP:0007009	Central nervous system degeneration
11277	TREX1	HP:0011954	Nodular regenerative hyperplasia of liver
11277	TREX1	HP:0004809	Neonatal alloimmune thrombocytopenia
11277	TREX1	HP:0007076	Extrapyramidal muscular rigidity
11277	TREX1	HP:0007052	Multifocal cerebral white matter abnormalities
11277	TREX1	HP:0002381	Aphasia
11277	TREX1	HP:0002395	Lower limb hyperreflexia
11277	TREX1	HP:0001063	Acrocyanosis
11277	TREX1	HP:0002376	Developmental regression
11277	TREX1	HP:0002371	Loss of speech
11277	TREX1	HP:0002344	Progressive neurologic deterioration
11277	TREX1	HP:0003676	Progressive
11277	TREX1	HP:0001009	Telangiectasia
11277	TREX1	HP:0002355	Difficulty walking
11277	TREX1	HP:0002354	Memory impairment
11277	TREX1	HP:0002352	Leukoencephalopathy
11277	TREX1	HP:0002315	Headache
11277	TREX1	HP:0002313	Spastic paraparesis
11277	TREX1	HP:0200029	Vasculitis in the skin
11277	TREX1	HP:0200030	Punctate vasculitis skin lesions
11277	TREX1	HP:0100614	Myositis
11277	TREX1	HP:0200042	Skin ulcer
11277	TREX1	HP:0001087	Developmental glaucoma
11277	TREX1	HP:0010783	Erythema
11277	TREX1	HP:0009763	Limb pain
11277	TREX1	HP:0007108	Demyelinating peripheral neuropathy
11277	TREX1	HP:0004963	Calcification of the aorta
11277	TREX1	HP:0003613	Antiphospholipid antibody positivity
11277	TREX1	HP:0004942	Aortic aneurysm
11277	TREX1	HP:0005550	Chronic lymphatic leukemia
11277	TREX1	HP:0000639	Nystagmus
11277	TREX1	HP:0001945	Fever
11277	TREX1	HP:0001955	Unexplained fevers
11277	TREX1	HP:0000625	Eyelid coloboma
11277	TREX1	HP:0004322	Short stature
11277	TREX1	HP:0031987	Diminished ability to concentrate
11277	TREX1	HP:0030666	Retinal neovascularization
11277	TREX1	HP:0004394	Multiple gastric polyps
11277	TREX1	HP:0004374	Hemiplegia/hemiparesis
11277	TREX1	HP:0000737	Irritability
11277	TREX1	HP:0000739	Anxiety
11277	TREX1	HP:0000741	Apathy
11277	TREX1	HP:0000742	Self-mutilation
11277	TREX1	HP:0000716	Depression
11277	TREX1	HP:0000726	Dementia
11277	TREX1	HP:0000709	Psychosis
11277	TREX1	HP:0000708	Atypical behavior
11277	TREX1	HP:0011463	Childhood onset
11277	TREX1	HP:0000790	Hematuria
11277	TREX1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
11277	TREX1	HP:0003155	Elevated circulating alkaline phosphatase concentration
11277	TREX1	HP:0000873	Diabetes insipidus
11277	TREX1	HP:0000819	Diabetes mellitus
11277	TREX1	HP:0000822	Hypertension
11277	TREX1	HP:0000821	Hypothyroidism
11277	TREX1	HP:0040049	Macular edema
11277	TREX1	HP:0030880	Raynaud phenomenon
11277	TREX1	HP:0003259	Elevated circulating creatinine concentration
11277	TREX1	HP:0000979	Purpura
11277	TREX1	HP:0000992	Cutaneous photosensitivity
11277	TREX1	HP:0000988	Skin rash
11277	TREX1	HP:0000958	Dry skin
11277	TREX1	HP:0000969	Edema
11277	TREX1	HP:0000965	Cutis marmorata
11277	TREX1	HP:0000967	Petechiae
11277	TREX1	HP:0040140	Degeneration of the striatum
11277	TREX1	HP:0008046	Abnormal retinal vascular morphology
11277	TREX1	HP:0001597	Abnormality of the nail
11277	TREX1	HP:0002829	Arthralgia
11277	TREX1	HP:0002828	Multiple joint contractures
11277	TREX1	HP:0000253	Progressive microcephaly
11277	TREX1	HP:0000252	Microcephaly
11277	TREX1	HP:0030038	Enchondroma
11277	TREX1	HP:0012377	Hemianopia
11277	TREX1	HP:0006579	Prolonged neonatal jaundice
11277	TREX1	HP:0001609	Hoarse voice
11277	TREX1	HP:0002910	Elevated hepatic transaminase
11277	TREX1	HP:0000369	Low-set ears
11277	TREX1	HP:0002960	Autoimmunity
11277	TREX1	HP:0001640	Cardiomegaly
11277	TREX1	HP:0001639	Hypertrophic cardiomyopathy
11277	TREX1	HP:0001638	Cardiomyopathy
11277	TREX1	HP:0031606	Retinal cotton wool spot
11277	TREX1	HP:0030319	Weakness of facial musculature
11277	TREX1	HP:0011163	Focal sensory seizure with somatosensory features
11277	TREX1	HP:0012490	Panniculitis
11277	TREX1	HP:0001701	Pericarditis
11277	TREX1	HP:0000486	Strabismus
11277	TREX1	HP:0000496	Abnormality of eye movement
11277	TREX1	HP:0012444	Brain atrophy
11277	TREX1	HP:0000444	Convex nasal ridge
11277	TREX1	HP:0001744	Splenomegaly
11277	TREX1	HP:0006707	Abnormality of the hepatic vasculature
11277	TREX1	HP:0000529	Progressive visual loss
11277	TREX1	HP:0000508	Ptosis
11277	TREX1	HP:0000505	Visual impairment
11277	TREX1	HP:0000501	Glaucoma
11277	TREX1	HP:0030356	Increased circulating interferon-gamma concentration
11277	TREX1	HP:0000573	Retinal hemorrhage
11277	TREX1	HP:0001895	Normochromic anemia
11277	TREX1	HP:0001897	Normocytic anemia
11277	TREX1	HP:0001882	Leukopenia
11277	TREX1	HP:0001878	Hemolytic anemia
11277	TREX1	HP:0001873	Thrombocytopenia
11280	SCN11A	HP:0001270	Motor delay
11280	SCN11A	HP:0001250	Seizure
11280	SCN11A	HP:0001324	Muscle weakness
11280	SCN11A	HP:0000006	Autosomal dominant inheritance
11280	SCN11A	HP:0002633	Vasculitis
11280	SCN11A	HP:0002019	Constipation
11280	SCN11A	HP:0002014	Diarrhea
11280	SCN11A	HP:0002045	Hypothermia
11280	SCN11A	HP:0003593	Infantile onset
11280	SCN11A	HP:0003577	Congenital onset
11280	SCN11A	HP:0002205	Recurrent respiratory infections
11280	SCN11A	HP:0007021	Pain insensitivity
11280	SCN11A	HP:0001058	Poor wound healing
11280	SCN11A	HP:0009830	Peripheral neuropathy
11280	SCN11A	HP:0010783	Erythema
11280	SCN11A	HP:0001909	Leukemia
11280	SCN11A	HP:0000975	Hyperhidrosis
11280	SCN11A	HP:0000989	Pruritus
11280	SCN11A	HP:0012332	Abnormal autonomic nervous system physiology
11280	SCN11A	HP:0001872	Abnormality of thrombocytes
11280	SCN11A	HP:0012531	Pain
11281	POU6F2	HP:0002664	Neoplasm
11281	POU6F2	HP:0002667	Nephroblastoma
11281	POU6F2	HP:0000006	Autosomal dominant inheritance
11281	POU6F2	HP:0001428	Somatic mutation
11281	POU6F2	HP:0002716	Lymphadenopathy
11281	POU6F2	HP:0002027	Abdominal pain
11281	POU6F2	HP:0100526	Neoplasm of the lung
11281	POU6F2	HP:0001945	Fever
11281	POU6F2	HP:0000790	Hematuria
11281	POU6F2	HP:0000822	Hypertension
11281	POU6F2	HP:0002896	Neoplasm of the liver
11281	POU6F2	HP:0000526	Aniridia
11281	POU6F2	HP:0001824	Weight loss
11284	PNKP	HP:0002495	Impaired vibratory sensation
11284	PNKP	HP:0002460	Distal muscle weakness
11284	PNKP	HP:0002442	Dyscalculia
11284	PNKP	HP:0002445	Tetraplegia
11284	PNKP	HP:0007256	Abnormal pyramidal sign
11284	PNKP	HP:0010864	Intellectual disability, severe
11284	PNKP	HP:0010851	EEG with burst suppression
11284	PNKP	HP:0010850	EEG with spike-wave complexes
11284	PNKP	HP:0009879	Simplified gyral pattern
11284	PNKP	HP:0002421	Poor head control
11284	PNKP	HP:0001272	Cerebellar atrophy
11284	PNKP	HP:0001270	Motor delay
11284	PNKP	HP:0001284	Areflexia
11284	PNKP	HP:0001250	Seizure
11284	PNKP	HP:0001252	Hypotonia
11284	PNKP	HP:0001251	Ataxia
11284	PNKP	HP:0001249	Intellectual disability
11284	PNKP	HP:0001265	Hyporeflexia
11284	PNKP	HP:0001266	Choreoathetosis
11284	PNKP	HP:0001260	Dysarthria
11284	PNKP	HP:0001263	Global developmental delay
11284	PNKP	HP:0001257	Spasticity
11284	PNKP	HP:0007366	Atrophy/Degeneration affecting the brainstem
11284	PNKP	HP:0007359	Focal-onset seizure
11284	PNKP	HP:0002521	Hypsarrhythmia
11284	PNKP	HP:0002506	Diffuse cerebral atrophy
11284	PNKP	HP:0000070	Ureterocele
11284	PNKP	HP:0000054	Micropenis
11284	PNKP	HP:0001332	Dystonia
11284	PNKP	HP:0000007	Autosomal recessive inheritance
11284	PNKP	HP:0001337	Tremor
11284	PNKP	HP:0001336	Myoclonus
11284	PNKP	HP:0001302	Pachygyria
11284	PNKP	HP:0000175	Cleft palate
11284	PNKP	HP:0008947	Infantile muscular hypotonia
11284	PNKP	HP:0008955	Progressive distal muscular atrophy
11284	PNKP	HP:0006254	Elevated circulating alpha-fetoprotein concentration
11284	PNKP	HP:0000110	Renal dysplasia
11284	PNKP	HP:0002751	Kyphoscoliosis
11284	PNKP	HP:0100543	Cognitive impairment
11284	PNKP	HP:0002069	Bilateral tonic-clonic seizure
11284	PNKP	HP:0002079	Hypoplasia of the corpus callosum
11284	PNKP	HP:0003474	Somatic sensory dysfunction
11284	PNKP	HP:0002121	Generalized non-motor (absence) seizure
11284	PNKP	HP:0002119	Ventriculomegaly
11284	PNKP	HP:0002131	Episodic ataxia
11284	PNKP	HP:0003431	Decreased motor nerve conduction velocity
11284	PNKP	HP:0002172	Postural instability
11284	PNKP	HP:0010522	Dyslexia
11284	PNKP	HP:0003581	Adult onset
11284	PNKP	HP:0100716	Self-injurious behavior
11284	PNKP	HP:0003560	Muscular dystrophy
11284	PNKP	HP:0003693	Distal amyotrophy
11284	PNKP	HP:0002360	Sleep disturbance
11284	PNKP	HP:0002376	Developmental regression
11284	PNKP	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
11284	PNKP	HP:0001009	Telangiectasia
11284	PNKP	HP:0002353	EEG abnormality
11284	PNKP	HP:0003678	Rapidly progressive
11284	PNKP	HP:0007204	Diffuse white matter abnormalities
11284	PNKP	HP:0100660	Dyskinesia
11284	PNKP	HP:0010819	Atonic seizure
11284	PNKP	HP:0010818	Generalized tonic seizure
11284	PNKP	HP:0009830	Peripheral neuropathy
11284	PNKP	HP:0007141	Sensorimotor neuropathy
11284	PNKP	HP:0003621	Juvenile onset
11284	PNKP	HP:0009053	Distal lower limb muscle weakness
11284	PNKP	HP:0000657	Oculomotor apraxia
11284	PNKP	HP:0003073	Hypoalbuminemia
11284	PNKP	HP:0000752	Hyperactivity
11284	PNKP	HP:0000736	Short attention span
11284	PNKP	HP:0000729	Autistic behavior
11284	PNKP	HP:0010174	Broad phalanx of the toes
11284	PNKP	HP:0011463	Childhood onset
11284	PNKP	HP:0003124	Hypercholesterolemia
11284	PNKP	HP:0000826	Precocious puberty
11284	PNKP	HP:0003202	Skeletal muscle atrophy
11284	PNKP	HP:0009381	Short finger
11284	PNKP	HP:0000253	Progressive microcephaly
11284	PNKP	HP:0000252	Microcephaly
11284	PNKP	HP:0001537	Umbilical hernia
11284	PNKP	HP:0001508	Failure to thrive
11284	PNKP	HP:0001500	Broad finger
11284	PNKP	HP:0001513	Obesity
11284	PNKP	HP:0002936	Distal sensory impairment
11284	PNKP	HP:0000340	Sloping forehead
11284	PNKP	HP:0001629	Ventricular septal defect
11284	PNKP	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
11284	PNKP	HP:0011169	Generalized clonic seizure
11284	PNKP	HP:0005280	Depressed nasal bridge
11284	PNKP	HP:0000486	Strabismus
11284	PNKP	HP:0012469	Infantile spasms
11284	PNKP	HP:0000463	Anteverted nares
11284	PNKP	HP:0012448	Delayed myelination
11284	PNKP	HP:0001780	Abnormal toe morphology
11284	PNKP	HP:0001761	Pes cavus
11284	PNKP	HP:0012554	Absent thumbnail
11284	PNKP	HP:0000570	Abnormal saccadic eye movements
11285	B4GALT7	HP:0001166	Arachnodactyly
11285	B4GALT7	HP:0001290	Generalized hypotonia
11285	B4GALT7	HP:0100813	Testicular torsion
11285	B4GALT7	HP:0001270	Motor delay
11285	B4GALT7	HP:0001252	Hypotonia
11285	B4GALT7	HP:0001263	Global developmental delay
11285	B4GALT7	HP:0001371	Flexion contracture
11285	B4GALT7	HP:0001373	Joint dislocation
11285	B4GALT7	HP:0001388	Joint laxity
11285	B4GALT7	HP:0001363	Craniosynostosis
11285	B4GALT7	HP:0000028	Cryptorchidism
11285	B4GALT7	HP:0007469	Palmoplantar cutis gyrata
11285	B4GALT7	HP:0002673	Coxa valga
11285	B4GALT7	HP:0000007	Autosomal recessive inheritance
11285	B4GALT7	HP:0002652	Skeletal dysplasia
11285	B4GALT7	HP:0002650	Scoliosis
11285	B4GALT7	HP:0000193	Bifid uvula
11285	B4GALT7	HP:0000160	Narrow mouth
11285	B4GALT7	HP:0000175	Cleft palate
11285	B4GALT7	HP:0006243	Phalangeal dislocation
11285	B4GALT7	HP:0002757	Recurrent fractures
11285	B4GALT7	HP:0002751	Kyphoscoliosis
11285	B4GALT7	HP:0011800	Midface retrusion
11285	B4GALT7	HP:0010511	Long toe
11285	B4GALT7	HP:0002209	Sparse scalp hair
11285	B4GALT7	HP:0001000	Abnormality of skin pigmentation
11285	B4GALT7	HP:0001075	Atrophic scars
11285	B4GALT7	HP:0011342	Mild global developmental delay
11285	B4GALT7	HP:0000653	Sparse eyelashes
11285	B4GALT7	HP:0011308	Slender toe
11285	B4GALT7	HP:0001999	Abnormal facial shape
11285	B4GALT7	HP:0004322	Short stature
11285	B4GALT7	HP:0005616	Accelerated skeletal maturation
11285	B4GALT7	HP:0003083	Dislocated radial head
11285	B4GALT7	HP:0005692	Joint hyperflexibility
11285	B4GALT7	HP:0003015	Flared metaphysis
11285	B4GALT7	HP:0000768	Pectus carinatum
11285	B4GALT7	HP:0009125	Lipodystrophy
11285	B4GALT7	HP:0000774	Narrow chest
11285	B4GALT7	HP:0004425	Flat forehead
11285	B4GALT7	HP:0000894	Short clavicles
11285	B4GALT7	HP:0003202	Skeletal muscle atrophy
11285	B4GALT7	HP:0045075	Sparse eyebrow
11285	B4GALT7	HP:0000974	Hyperextensible skin
11285	B4GALT7	HP:0000973	Cutis laxa
11285	B4GALT7	HP:0000987	Atypical scarring of skin
11285	B4GALT7	HP:0000954	Single transverse palmar crease
11285	B4GALT7	HP:0000963	Thin skin
11285	B4GALT7	HP:0000938	Osteopenia
11285	B4GALT7	HP:0000286	Epicanthus
11285	B4GALT7	HP:0000256	Macrocephaly
11285	B4GALT7	HP:0000274	Small face
11285	B4GALT7	HP:0002816	Genu recurvatum
11285	B4GALT7	HP:0000230	Gingivitis
11285	B4GALT7	HP:0001508	Failure to thrive
11285	B4GALT7	HP:0001510	Growth delay
11285	B4GALT7	HP:0000387	Absent earlobe
11285	B4GALT7	HP:0012368	Flat face
11285	B4GALT7	HP:0006481	Abnormality of primary teeth
11285	B4GALT7	HP:0006487	Bowing of the long bones
11285	B4GALT7	HP:0000369	Low-set ears
11285	B4GALT7	HP:0000337	Broad forehead
11285	B4GALT7	HP:0000347	Micrognathia
11285	B4GALT7	HP:0001650	Aortic valve stenosis
11285	B4GALT7	HP:0000316	Hypertelorism
11285	B4GALT7	HP:0001642	Pulmonic stenosis
11285	B4GALT7	HP:0002974	Radioulnar synostosis
11285	B4GALT7	HP:0005328	Progeroid facial appearance
11285	B4GALT7	HP:0001772	Talipes equinovalgus
11285	B4GALT7	HP:0001763	Pes planus
11285	B4GALT7	HP:0001762	Talipes equinovarus
11285	B4GALT7	HP:0000431	Wide nasal bridge
11285	B4GALT7	HP:0000520	Proptosis
11285	B4GALT7	HP:0000506	Telecanthus
11285	B4GALT7	HP:0000592	Blue sclerae
11285	B4GALT7	HP:0000540	Hypermetropia
11311	VPS45	HP:0001263	Global developmental delay
11311	VPS45	HP:0000007	Autosomal recessive inheritance
11311	VPS45	HP:0000105	Enlarged kidney
11311	VPS45	HP:0002719	Recurrent infections
11311	VPS45	HP:0002028	Chronic diarrhea
11311	VPS45	HP:0003593	Infantile onset
11311	VPS45	HP:0002240	Hepatomegaly
11311	VPS45	HP:0010702	Increased circulating antibody level
11311	VPS45	HP:0003623	Neonatal onset
11311	VPS45	HP:0001978	Extramedullary hematopoiesis
11311	VPS45	HP:0001903	Anemia
11311	VPS45	HP:0001508	Failure to thrive
11311	VPS45	HP:0001744	Splenomegaly
11311	VPS45	HP:0001882	Leukopenia
11311	VPS45	HP:0001873	Thrombocytopenia
11311	VPS45	HP:0001875	Neutropenia
11315	PARK7	HP:0025269	Panic attack
11315	PARK7	HP:0002578	Gastroparesis
11315	PARK7	HP:0001257	Spasticity
11315	PARK7	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
11315	PARK7	HP:0001348	Brisk reflexes
11315	PARK7	HP:0001347	Hyperreflexia
11315	PARK7	HP:0001332	Dystonia
11315	PARK7	HP:0000007	Autosomal recessive inheritance
11315	PARK7	HP:0001337	Tremor
11315	PARK7	HP:0002018	Nausea
11315	PARK7	HP:0002019	Constipation
11315	PARK7	HP:0040307	Male sexual dysfunction
11315	PARK7	HP:0002014	Diarrhea
11315	PARK7	HP:0100543	Cognitive impairment
11315	PARK7	HP:0002067	Bradykinesia
11315	PARK7	HP:0003394	Muscle spasm
11315	PARK7	HP:0002063	Rigidity
11315	PARK7	HP:0002141	Gait imbalance
11315	PARK7	HP:0002174	Postural tremor
11315	PARK7	HP:0002172	Postural instability
11315	PARK7	HP:0003581	Adult onset
11315	PARK7	HP:0100710	Impulsivity
11315	PARK7	HP:0100785	Insomnia
11315	PARK7	HP:0003677	Slowly progressive
11315	PARK7	HP:0002322	Resting tremor
11315	PARK7	HP:0100660	Dyskinesia
11315	PARK7	HP:0000651	Diplopia
11315	PARK7	HP:0000643	Blepharospasm
11315	PARK7	HP:0031959	Leg dystonia
11315	PARK7	HP:0000738	Hallucinations
11315	PARK7	HP:0000739	Anxiety
11315	PARK7	HP:0000736	Short attention span
11315	PARK7	HP:0000735	Impaired social interactions
11315	PARK7	HP:0000741	Apathy
11315	PARK7	HP:0000716	Depression
11315	PARK7	HP:0000713	Agitation
11315	PARK7	HP:0000727	Frontal lobe dementia
11315	PARK7	HP:0000726	Dementia
11315	PARK7	HP:0000725	Psychotic episodes
11315	PARK7	HP:0004409	Hyposmia
11315	PARK7	HP:0030014	Female sexual dysfunction
11315	PARK7	HP:0012332	Abnormal autonomic nervous system physiology
11315	PARK7	HP:0012452	Restless legs
11315	PARK7	HP:0000551	Color vision defect
11322	TMC6	HP:0007565	Multiple cafe-au-lait spots
11322	TMC6	HP:0002671	Basal cell carcinoma
11322	TMC6	HP:0000007	Autosomal recessive inheritance
11322	TMC6	HP:0002715	Abnormality of the immune system
11322	TMC6	HP:0100585	Telangiectasia of the skin
11322	TMC6	HP:0001051	Seborrheic dermatitis
11322	TMC6	HP:0001053	Hypopigmented skin patches
11322	TMC6	HP:0200035	Skin plaque
11322	TMC6	HP:0200034	Papule
11322	TMC6	HP:0200039	Pustule
11322	TMC6	HP:0200043	Verrucae
11322	TMC6	HP:0001939	Abnormality of metabolism/homeostasis
11322	TMC6	HP:0001581	Recurrent skin infections
11322	TMC6	HP:0002860	Squamous cell carcinoma
11330	CTRC	HP:0002570	Steatorrhea
11330	CTRC	HP:0000006	Autosomal dominant inheritance
11330	CTRC	HP:0410019	Epigastric pain
11330	CTRC	HP:0002018	Nausea
11330	CTRC	HP:0002027	Abdominal pain
11330	CTRC	HP:0030992	Abnormal pancreatic duct morphology
11330	CTRC	HP:0002013	Vomiting
11330	CTRC	HP:0008205	Insulin-dependent but ketosis-resistant diabetes
11330	CTRC	HP:0002202	Pleural effusion
11330	CTRC	HP:0009800	Maternal diabetes
11330	CTRC	HP:0001977	Abnormal thrombosis
11330	CTRC	HP:0001974	Leukocytosis
11330	CTRC	HP:0001945	Fever
11330	CTRC	HP:0004395	Malnutrition
11330	CTRC	HP:0100027	Recurrent pancreatitis
11330	CTRC	HP:0000819	Diabetes mellitus
11330	CTRC	HP:0000952	Jaundice
11330	CTRC	HP:0012379	Abnormal circulating enzyme concentration or activity
11330	CTRC	HP:0005236	Chronic calcifying pancreatitis
11330	CTRC	HP:0005213	Pancreatic calcification
11330	CTRC	HP:0005206	Pancreatic pseudocyst
11330	CTRC	HP:0001738	Exocrine pancreatic insufficiency
11330	CTRC	HP:0001733	Pancreatitis
11330	CTRC	HP:0030247	Splanchnic vein thrombosis
11330	CTRC	HP:0006725	Pancreatic adenocarcinoma
11330	CTRC	HP:0001824	Weight loss
11330	CTRC	HP:0011227	Elevated circulating C-reactive protein concentration
11340	EXOSC8	HP:0007269	Spinal muscular atrophy
11340	EXOSC8	HP:0001270	Motor delay
11340	EXOSC8	HP:0001285	Spastic tetraparesis
11340	EXOSC8	HP:0001250	Seizure
11340	EXOSC8	HP:0001252	Hypotonia
11340	EXOSC8	HP:0001251	Ataxia
11340	EXOSC8	HP:0001265	Hyporeflexia
11340	EXOSC8	HP:0001263	Global developmental delay
11340	EXOSC8	HP:0001257	Spasticity
11340	EXOSC8	HP:0007360	Aplasia/Hypoplasia of the cerebellum
11340	EXOSC8	HP:0003819	Death in childhood
11340	EXOSC8	HP:0001347	Hyperreflexia
11340	EXOSC8	HP:0033725	Thin corpus callosum
11340	EXOSC8	HP:0001324	Muscle weakness
11340	EXOSC8	HP:0000007	Autosomal recessive inheritance
11340	EXOSC8	HP:0001308	Tongue fasciculations
11340	EXOSC8	HP:0001320	Cerebellar vermis hypoplasia
11340	EXOSC8	HP:0012110	Hypoplasia of the pons
11340	EXOSC8	HP:0002093	Respiratory insufficiency
11340	EXOSC8	HP:0002079	Hypoplasia of the corpus callosum
11340	EXOSC8	HP:0003477	Peripheral axonal neuropathy
11340	EXOSC8	HP:0002120	Cerebral cortical atrophy
11340	EXOSC8	HP:0003593	Infantile onset
11340	EXOSC8	HP:0004886	Congenital laryngeal stridor
11340	EXOSC8	HP:0002280	Enlarged cisterna magna
11340	EXOSC8	HP:0011968	Feeding difficulties
11340	EXOSC8	HP:0002398	Degeneration of anterior horn cells
11340	EXOSC8	HP:0002350	Cerebellar cyst
11340	EXOSC8	HP:0000639	Nystagmus
11340	EXOSC8	HP:0000648	Optic atrophy
11340	EXOSC8	HP:0000737	Irritability
11340	EXOSC8	HP:0003202	Skeletal muscle atrophy
11340	EXOSC8	HP:0034392	Joint contracture
11340	EXOSC8	HP:0002804	Arthrogryposis multiplex congenita
11340	EXOSC8	HP:0000253	Progressive microcephaly
11340	EXOSC8	HP:0002878	Respiratory failure
11340	EXOSC8	HP:0001508	Failure to thrive
11340	EXOSC8	HP:0000365	Hearing impairment
11340	EXOSC8	HP:0000486	Strabismus
11340	EXOSC8	HP:0000529	Progressive visual loss
11340	EXOSC8	HP:0000505	Visual impairment
11340	EXOSC8	HP:0000565	Esotropia
11342	RNF13	HP:0001182	Tapered finger
11342	RNF13	HP:0001290	Generalized hypotonia
11342	RNF13	HP:0100806	Sepsis
11342	RNF13	HP:0001276	Hypertonia
11342	RNF13	HP:0001272	Cerebellar atrophy
11342	RNF13	HP:0001250	Seizure
11342	RNF13	HP:0001257	Spasticity
11342	RNF13	HP:0006070	Metacarpophalangeal joint contracture
11342	RNF13	HP:0006094	Finger joint hypermobility
11342	RNF13	HP:0025373	Interictal EEG abnormality
11342	RNF13	HP:0001371	Flexion contracture
11342	RNF13	HP:0001385	Hip dysplasia
11342	RNF13	HP:0001382	Joint hypermobility
11342	RNF13	HP:0000023	Inguinal hernia
11342	RNF13	HP:0008872	Feeding difficulties in infancy
11342	RNF13	HP:0007514	Edema of the dorsum of hands
11342	RNF13	HP:0012098	Edema of the dorsum of feet
11342	RNF13	HP:0000006	Autosomal dominant inheritance
11342	RNF13	HP:0002650	Scoliosis
11342	RNF13	HP:0025405	Visual fixation instability
11342	RNF13	HP:0002750	Delayed skeletal maturation
11342	RNF13	HP:0011800	Midface retrusion
11342	RNF13	HP:0002098	Respiratory distress
11342	RNF13	HP:0002069	Bilateral tonic-clonic seizure
11342	RNF13	HP:0002079	Hypoplasia of the corpus callosum
11342	RNF13	HP:0002188	Delayed CNS myelination
11342	RNF13	HP:0002187	Intellectual disability, profound
11342	RNF13	HP:0002164	Nail dysplasia
11342	RNF13	HP:0003577	Congenital onset
11342	RNF13	HP:0100704	Cerebral visual impairment
11342	RNF13	HP:0200134	Epileptic encephalopathy
11342	RNF13	HP:0011968	Feeding difficulties
11342	RNF13	HP:0010845	EEG with generalized slow activity
11342	RNF13	HP:0000668	Hypodontia
11342	RNF13	HP:0001999	Abnormal facial shape
11342	RNF13	HP:0000737	Irritability
11342	RNF13	HP:0000711	Restlessness
11342	RNF13	HP:0011471	Gastrostomy tube feeding in infancy
11342	RNF13	HP:0011432	High maternal circulating alpha-fetoprotein concentration
11342	RNF13	HP:0040126	Abnormal vitamin B12 level
11342	RNF13	HP:0003196	Short nose
11342	RNF13	HP:0005072	Hyperextensibility at wrists
11342	RNF13	HP:0000252	Microcephaly
11342	RNF13	HP:0001508	Failure to thrive
11342	RNF13	HP:0000341	Narrow forehead
11342	RNF13	HP:0000331	Short chin
11342	RNF13	HP:0011185	EEG with focal epileptiform discharges
11342	RNF13	HP:0000407	Sensorineural hearing impairment
11342	RNF13	HP:0012469	Infantile spasms
11342	RNF13	HP:0000496	Abnormality of eye movement
11342	RNF13	HP:0012448	Delayed myelination
11342	RNF13	HP:0000446	Narrow nasal bridge
11342	RNF13	HP:0000518	Cataract
22796	COG2	HP:0001252	Hypotonia
22796	COG2	HP:0001249	Intellectual disability
22796	COG2	HP:0001263	Global developmental delay
22796	COG2	HP:0002510	Spastic tetraplegia
22796	COG2	HP:0002506	Diffuse cerebral atrophy
22796	COG2	HP:0000007	Autosomal recessive inheritance
22796	COG2	HP:0001410	Decreased liver function
22796	COG2	HP:0002079	Hypoplasia of the corpus callosum
22796	COG2	HP:0003593	Infantile onset
22796	COG2	HP:0011967	Decreased circulating copper concentration
22796	COG2	HP:0002361	Psychomotor deterioration
22796	COG2	HP:0010837	Decreased circulating ceruloplasmin concentration
22796	COG2	HP:0010818	Generalized tonic seizure
22796	COG2	HP:0001999	Abnormal facial shape
22796	COG2	HP:0003256	Abnormality of the coagulation cascade
22796	COG2	HP:0002910	Elevated hepatic transaminase
22796	COG2	HP:0012345	Abnormal glycosylation
22796	COG2	HP:0005484	Secondary microcephaly
22796	COG2	HP:0012506	Small pituitary gland
22800	RRAS2	HP:0001156	Brachydactyly
22800	RRAS2	HP:0001270	Motor delay
22800	RRAS2	HP:0001252	Hypotonia
22800	RRAS2	HP:0001260	Dysarthria
22800	RRAS2	HP:0000078	Abnormality of the genital system
22800	RRAS2	HP:0000044	Hypogonadotropic hypogonadism
22800	RRAS2	HP:0000028	Cryptorchidism
22800	RRAS2	HP:0008872	Feeding difficulties in infancy
22800	RRAS2	HP:0007477	Abnormal dermatoglyphics
22800	RRAS2	HP:0001324	Muscle weakness
22800	RRAS2	HP:0000006	Autosomal dominant inheritance
22800	RRAS2	HP:0002650	Scoliosis
22800	RRAS2	HP:0000179	Thick lower lip vermilion
22800	RRAS2	HP:0002750	Delayed skeletal maturation
22800	RRAS2	HP:0011800	Midface retrusion
22800	RRAS2	HP:0002119	Ventriculomegaly
22800	RRAS2	HP:0003416	Spinal canal stenosis
22800	RRAS2	HP:0009623	Proximal placement of thumb
22800	RRAS2	HP:0002167	Abnormality of speech or vocalization
22800	RRAS2	HP:0002162	Low posterior hairline
22800	RRAS2	HP:0011869	Abnormal platelet function
22800	RRAS2	HP:0002240	Hepatomegaly
22800	RRAS2	HP:0002208	Coarse hair
22800	RRAS2	HP:0100763	Abnormality of the lymphatic system
22800	RRAS2	HP:0001047	Atopic dermatitis
22800	RRAS2	HP:0001004	Lymphedema
22800	RRAS2	HP:0001076	Glabellar hemangioma
22800	RRAS2	HP:0100625	Enlarged thorax
22800	RRAS2	HP:0002308	Chiari malformation
22800	RRAS2	HP:0004209	Clinodactyly of the 5th finger
22800	RRAS2	HP:0000639	Nystagmus
22800	RRAS2	HP:0000646	Amblyopia
22800	RRAS2	HP:0001928	Abnormality of coagulation
22800	RRAS2	HP:0011381	Aplasia of the semicircular canal
22800	RRAS2	HP:0011362	Abnormal hair quantity
22800	RRAS2	HP:0011342	Mild global developmental delay
22800	RRAS2	HP:0004322	Short stature
22800	RRAS2	HP:0030680	Abnormality of cardiovascular system morphology
22800	RRAS2	HP:0004381	Supravalvular aortic stenosis
22800	RRAS2	HP:0005692	Joint hyperflexibility
22800	RRAS2	HP:0000767	Pectus excavatum
22800	RRAS2	HP:0000768	Pectus carinatum
22800	RRAS2	HP:0004415	Pulmonary artery stenosis
22800	RRAS2	HP:0000878	11 pairs of ribs
22800	RRAS2	HP:0000824	Decreased response to growth hormone stimulation test
22800	RRAS2	HP:0000995	Melanocytic nevus
22800	RRAS2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
22800	RRAS2	HP:0011675	Arrhythmia
22800	RRAS2	HP:0000218	High palate
22800	RRAS2	HP:0001545	Anteriorly placed anus
22800	RRAS2	HP:0001561	Polyhydramnios
22800	RRAS2	HP:0000391	Thickened helices
22800	RRAS2	HP:0000368	Low-set, posteriorly rotated ears
22800	RRAS2	HP:0000348	High forehead
22800	RRAS2	HP:0000347	Micrognathia
22800	RRAS2	HP:0000316	Hypertelorism
22800	RRAS2	HP:0002974	Radioulnar synostosis
22800	RRAS2	HP:0000325	Triangular face
22800	RRAS2	HP:0001629	Ventricular septal defect
22800	RRAS2	HP:0001641	Abnormal pulmonary valve morphology
22800	RRAS2	HP:0001636	Tetralogy of Fallot
22800	RRAS2	HP:0006610	Wide intermamillary distance
22800	RRAS2	HP:0000407	Sensorineural hearing impairment
22800	RRAS2	HP:0000486	Strabismus
22800	RRAS2	HP:0000476	Cystic hygroma
22800	RRAS2	HP:0000494	Downslanted palpebral fissures
22800	RRAS2	HP:0000474	Thickened nuchal skin fold
22800	RRAS2	HP:0000465	Webbed neck
22800	RRAS2	HP:0001743	Abnormality of the spleen
22800	RRAS2	HP:0000520	Proptosis
22800	RRAS2	HP:0000508	Ptosis
22800	RRAS2	HP:0001892	Abnormal bleeding
22800	RRAS2	HP:0001888	Lymphopenia
22800	RRAS2	HP:0000565	Esotropia
22800	RRAS2	HP:0000540	Hypermetropia
22800	RRAS2	HP:0001873	Thrombocytopenia
22802	CLCA4	HP:0032261	Nontuberculous mycobacterial pulmonary infection
22802	CLCA4	HP:0002570	Steatorrhea
22802	CLCA4	HP:0032342	Reduced forced expiratory volume in one second
22802	CLCA4	HP:0001392	Abnormality of the liver
22802	CLCA4	HP:0001394	Cirrhosis
22802	CLCA4	HP:0002726	Recurrent Staphylococcus aureus infections
22802	CLCA4	HP:0002724	Recurrent Aspergillus infections
22802	CLCA4	HP:0002024	Malabsorption
22802	CLCA4	HP:0002020	Gastroesophageal reflux
22802	CLCA4	HP:0002035	Rectal prolapse
22802	CLCA4	HP:0002099	Asthma
22802	CLCA4	HP:0100582	Nasal polyposis
22802	CLCA4	HP:0002110	Bronchiectasis
22802	CLCA4	HP:0002107	Pneumothorax
22802	CLCA4	HP:0002105	Hemoptysis
22802	CLCA4	HP:0002205	Recurrent respiratory infections
22802	CLCA4	HP:0000739	Anxiety
22802	CLCA4	HP:0000716	Depression
22802	CLCA4	HP:0000787	Nephrolithiasis
22802	CLCA4	HP:0004401	Meconium ileus
22802	CLCA4	HP:0012873	Absent vas deferens
22802	CLCA4	HP:0045082	Decreased body mass index
22802	CLCA4	HP:0000939	Osteoporosis
22802	CLCA4	HP:0000938	Osteopenia
22802	CLCA4	HP:0012236	Elevated sweat chloride
22802	CLCA4	HP:0000246	Sinusitis
22802	CLCA4	HP:0001508	Failure to thrive
22802	CLCA4	HP:0002842	Recurrent Burkholderia cepacia infections
22802	CLCA4	HP:0006536	Airway obstruction
22802	CLCA4	HP:0002910	Elevated hepatic transaminase
22802	CLCA4	HP:0000365	Hearing impairment
22802	CLCA4	HP:0005376	Recurrent Haemophilus influenzae infections
22802	CLCA4	HP:0001738	Exocrine pancreatic insufficiency
22806	IKZF3	HP:0010976	B lymphocytopenia
22806	IKZF3	HP:0000006	Autosomal dominant inheritance
22806	IKZF3	HP:0012191	B-cell lymphoma
22806	IKZF3	HP:0002718	Recurrent bacterial infections
22806	IKZF3	HP:0020072	Persistent EBV viremia
22806	IKZF3	HP:0009789	Perianal abscess
22806	IKZF3	HP:0001744	Splenomegaly
22808	MRAS	HP:0001156	Brachydactyly
22808	MRAS	HP:0008619	Bilateral sensorineural hearing impairment
22808	MRAS	HP:0001252	Hypotonia
22808	MRAS	HP:0001260	Dysarthria
22808	MRAS	HP:0001263	Global developmental delay
22808	MRAS	HP:0000078	Abnormality of the genital system
22808	MRAS	HP:0000044	Hypogonadotropic hypogonadism
22808	MRAS	HP:0000028	Cryptorchidism
22808	MRAS	HP:0008872	Feeding difficulties in infancy
22808	MRAS	HP:0007517	Palmoplantar cutis laxa
22808	MRAS	HP:0007477	Abnormal dermatoglyphics
22808	MRAS	HP:0001324	Muscle weakness
22808	MRAS	HP:0000006	Autosomal dominant inheritance
22808	MRAS	HP:0002650	Scoliosis
22808	MRAS	HP:0000179	Thick lower lip vermilion
22808	MRAS	HP:0002750	Delayed skeletal maturation
22808	MRAS	HP:0011800	Midface retrusion
22808	MRAS	HP:0002167	Abnormality of speech or vocalization
22808	MRAS	HP:0002162	Low posterior hairline
22808	MRAS	HP:0011869	Abnormal platelet function
22808	MRAS	HP:0002240	Hepatomegaly
22808	MRAS	HP:0002208	Coarse hair
22808	MRAS	HP:0100763	Abnormality of the lymphatic system
22808	MRAS	HP:0001004	Lymphedema
22808	MRAS	HP:0100625	Enlarged thorax
22808	MRAS	HP:0004209	Clinodactyly of the 5th finger
22808	MRAS	HP:0000639	Nystagmus
22808	MRAS	HP:0001928	Abnormality of coagulation
22808	MRAS	HP:0011381	Aplasia of the semicircular canal
22808	MRAS	HP:0011362	Abnormal hair quantity
22808	MRAS	HP:0004322	Short stature
22808	MRAS	HP:0030680	Abnormality of cardiovascular system morphology
22808	MRAS	HP:0005692	Joint hyperflexibility
22808	MRAS	HP:0031936	Delayed ability to walk
22808	MRAS	HP:0000767	Pectus excavatum
22808	MRAS	HP:0000768	Pectus carinatum
22808	MRAS	HP:0000750	Delayed speech and language development
22808	MRAS	HP:0004415	Pulmonary artery stenosis
22808	MRAS	HP:0004482	Relative macrocephaly
22808	MRAS	HP:0000995	Melanocytic nevus
22808	MRAS	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
22808	MRAS	HP:0011675	Arrhythmia
22808	MRAS	HP:0000276	Long face
22808	MRAS	HP:0000218	High palate
22808	MRAS	HP:0000391	Thickened helices
22808	MRAS	HP:0000358	Posteriorly rotated ears
22808	MRAS	HP:0000369	Low-set ears
22808	MRAS	HP:0000368	Low-set, posteriorly rotated ears
22808	MRAS	HP:0000348	High forehead
22808	MRAS	HP:0000347	Micrognathia
22808	MRAS	HP:0000316	Hypertelorism
22808	MRAS	HP:0001642	Pulmonic stenosis
22808	MRAS	HP:0002974	Radioulnar synostosis
22808	MRAS	HP:0000325	Triangular face
22808	MRAS	HP:0001641	Abnormal pulmonary valve morphology
22808	MRAS	HP:0001639	Hypertrophic cardiomyopathy
22808	MRAS	HP:0000307	Pointed chin
22808	MRAS	HP:0001631	Atrial septal defect
22808	MRAS	HP:0006610	Wide intermamillary distance
22808	MRAS	HP:0000407	Sensorineural hearing impairment
22808	MRAS	HP:0005280	Depressed nasal bridge
22808	MRAS	HP:0000486	Strabismus
22808	MRAS	HP:0012471	Thick vermilion border
22808	MRAS	HP:0000476	Cystic hygroma
22808	MRAS	HP:0000494	Downslanted palpebral fissures
22808	MRAS	HP:0000474	Thickened nuchal skin fold
22808	MRAS	HP:0000465	Webbed neck
22808	MRAS	HP:0000414	Bulbous nose
22808	MRAS	HP:0001743	Abnormality of the spleen
22808	MRAS	HP:0000520	Proptosis
22808	MRAS	HP:0000508	Ptosis
22808	MRAS	HP:0001892	Abnormal bleeding
22827	PUF60	HP:0001177	Preaxial hand polydactyly
22827	PUF60	HP:0001155	Abnormality of the hand
22827	PUF60	HP:0002474	Expressive language delay
22827	PUF60	HP:0002414	Spina bifida
22827	PUF60	HP:0001290	Generalized hypotonia
22827	PUF60	HP:0100807	Long fingers
22827	PUF60	HP:0001274	Agenesis of corpus callosum
22827	PUF60	HP:0001250	Seizure
22827	PUF60	HP:0001249	Intellectual disability
22827	PUF60	HP:0001263	Global developmental delay
22827	PUF60	HP:0006009	Broad phalanx
22827	PUF60	HP:0009997	Duplication of phalanx of hand
22827	PUF60	HP:0002553	Highly arched eyebrow
22827	PUF60	HP:0003835	Shoulder subluxation
22827	PUF60	HP:0000089	Renal hypoplasia
22827	PUF60	HP:0000085	Horseshoe kidney
22827	PUF60	HP:0000077	Abnormality of the kidney
22827	PUF60	HP:0000076	Vesicoureteral reflux
22827	PUF60	HP:0001374	Congenital hip dislocation
22827	PUF60	HP:0001385	Hip dysplasia
22827	PUF60	HP:0001388	Joint laxity
22827	PUF60	HP:0000047	Hypospadias
22827	PUF60	HP:0000023	Inguinal hernia
22827	PUF60	HP:0008872	Feeding difficulties in infancy
22827	PUF60	HP:0000006	Autosomal dominant inheritance
22827	PUF60	HP:0002650	Scoliosis
22827	PUF60	HP:0025481	Cervical hemivertebrae
22827	PUF60	HP:0007687	Unilateral ptosis
22827	PUF60	HP:0007663	Reduced visual acuity
22827	PUF60	HP:0007633	Bilateral microphthalmos
22827	PUF60	HP:0000122	Unilateral renal agenesis
22827	PUF60	HP:0000125	Pelvic kidney
22827	PUF60	HP:0002761	Generalized joint laxity
22827	PUF60	HP:0000107	Renal cyst
22827	PUF60	HP:0000104	Renal agenesis
22827	PUF60	HP:0002020	Gastroesophageal reflux
22827	PUF60	HP:0004691	2-3 toe syndactyly
22827	PUF60	HP:0002015	Dysphagia
22827	PUF60	HP:0002098	Respiratory distress
22827	PUF60	HP:0002079	Hypoplasia of the corpus callosum
22827	PUF60	HP:0002059	Cerebral atrophy
22827	PUF60	HP:0011755	Ectopic posterior pituitary
22827	PUF60	HP:0002119	Ventriculomegaly
22827	PUF60	HP:0002101	Abnormal lung lobation
22827	PUF60	HP:0010609	Skin tags
22827	PUF60	HP:0010529	Echolalia
22827	PUF60	HP:0010511	Long toe
22827	PUF60	HP:0011842	Abnormal skeletal morphology
22827	PUF60	HP:0003577	Congenital onset
22827	PUF60	HP:0002239	Gastrointestinal hemorrhage
22827	PUF60	HP:0010722	Asymmetry of the ears
22827	PUF60	HP:0002283	Global brain atrophy
22827	PUF60	HP:0011968	Feeding difficulties
22827	PUF60	HP:0010628	Facial palsy
22827	PUF60	HP:0001052	Nevus flammeus
22827	PUF60	HP:0002360	Sleep disturbance
22827	PUF60	HP:0002342	Intellectual disability, moderate
22827	PUF60	HP:0009796	Branchial cyst
22827	PUF60	HP:0008467	Thoracic hemivertebrae
22827	PUF60	HP:0010733	Naevus flammeus of the eyelid
22827	PUF60	HP:0004209	Clinodactyly of the 5th finger
22827	PUF60	HP:0004279	Short palm
22827	PUF60	HP:0004220	Short middle phalanx of the 5th finger
22827	PUF60	HP:0000646	Amblyopia
22827	PUF60	HP:0000612	Iris coloboma
22827	PUF60	HP:0000609	Optic nerve hypoplasia
22827	PUF60	HP:0010055	Broad hallux
22827	PUF60	HP:0011332	Hemifacial hypoplasia
22827	PUF60	HP:0011304	Broad thumb
22827	PUF60	HP:0004322	Short stature
22827	PUF60	HP:0006970	Periventricular leukomalacia
22827	PUF60	HP:0005620	Hypermobility of interphalangeal joints
22827	PUF60	HP:0030680	Abnormality of cardiovascular system morphology
22827	PUF60	HP:0012745	Short palpebral fissure
22827	PUF60	HP:0000752	Hyperactivity
22827	PUF60	HP:0011406	Infancy onset short-trunk short stature
22827	PUF60	HP:0000767	Pectus excavatum
22827	PUF60	HP:0100033	Tics
22827	PUF60	HP:0000733	Abnormal repetitive mannerisms
22827	PUF60	HP:0000744	Low frustration tolerance
22827	PUF60	HP:0000729	Autistic behavior
22827	PUF60	HP:0011470	Nasogastric tube feeding in infancy
22827	PUF60	HP:0012795	Abnormal optic disc morphology
22827	PUF60	HP:0010109	Short hallux
22827	PUF60	HP:0000774	Narrow chest
22827	PUF60	HP:0003196	Short nose
22827	PUF60	HP:0000891	Cervical ribs
22827	PUF60	HP:0003097	Short femur
22827	PUF60	HP:0000817	Reduced eye contact
22827	PUF60	HP:0010289	Cleft maxillary alveolar ridge
22827	PUF60	HP:0040019	Finger clinodactyly
22827	PUF60	HP:0009237	Short 5th finger
22827	PUF60	HP:0003298	Spina bifida occulta
22827	PUF60	HP:0000998	Hypertrichosis
22827	PUF60	HP:0000974	Hyperextensible skin
22827	PUF60	HP:0000954	Single transverse palmar crease
22827	PUF60	HP:0008081	Pes valgus
22827	PUF60	HP:0011682	Perimembranous ventricular septal defect
22827	PUF60	HP:0000286	Epicanthus
22827	PUF60	HP:0000293	Full cheeks
22827	PUF60	HP:0002827	Hip dislocation
22827	PUF60	HP:0030084	Clinodactyly
22827	PUF60	HP:0000252	Microcephaly
22827	PUF60	HP:0000219	Thin upper lip vermilion
22827	PUF60	HP:0001562	Oligohydramnios
22827	PUF60	HP:0001518	Small for gestational age
22827	PUF60	HP:0001511	Intrauterine growth retardation
22827	PUF60	HP:0001510	Growth delay
22827	PUF60	HP:0011067	Mesiodens
22827	PUF60	HP:0007874	Almond-shaped palpebral fissure
22827	PUF60	HP:0002937	Hemivertebrae
22827	PUF60	HP:0002948	Vertebral fusion
22827	PUF60	HP:0002949	Fused cervical vertebrae
22827	PUF60	HP:0002942	Thoracic kyphosis
22827	PUF60	HP:0002943	Thoracic scoliosis
22827	PUF60	HP:0005176	Dysplastic aortic valve
22827	PUF60	HP:0000365	Hearing impairment
22827	PUF60	HP:0000358	Posteriorly rotated ears
22827	PUF60	HP:0000341	Narrow forehead
22827	PUF60	HP:0001671	Abnormal cardiac septum morphology
22827	PUF60	HP:0001674	Complete atrioventricular canal defect
22827	PUF60	HP:0000343	Long philtrum
22827	PUF60	HP:0001680	Coarctation of aorta
22827	PUF60	HP:0000347	Micrognathia
22827	PUF60	HP:0002983	Micromelia
22827	PUF60	HP:0000321	Square face
22827	PUF60	HP:0012304	Hypoplastic aortic arch
22827	PUF60	HP:0000319	Smooth philtrum
22827	PUF60	HP:0001647	Bicuspid aortic valve
22827	PUF60	HP:0001643	Patent ductus arteriosus
22827	PUF60	HP:0001660	Truncus arteriosus
22827	PUF60	HP:0001659	Aortic regurgitation
22827	PUF60	HP:0001629	Ventricular septal defect
22827	PUF60	HP:0001627	Abnormal heart morphology
22827	PUF60	HP:0000308	Microretrognathia
22827	PUF60	HP:0001636	Tetralogy of Fallot
22827	PUF60	HP:0000300	Oval face
22827	PUF60	HP:0000303	Mandibular prognathia
22827	PUF60	HP:0012487	Cerebellopontine angle arachnoid cyst
22827	PUF60	HP:0006695	Atrioventricular canal defect
22827	PUF60	HP:0005306	Capillary hemangioma
22827	PUF60	HP:0001738	Exocrine pancreatic insufficiency
22827	PUF60	HP:0000486	Strabismus
22827	PUF60	HP:0000480	Retinal coloboma
22827	PUF60	HP:0000490	Deeply set eye
22827	PUF60	HP:0000463	Anteverted nares
22827	PUF60	HP:0000455	Broad nasal tip
22827	PUF60	HP:0000470	Short neck
22827	PUF60	HP:0001763	Pes planus
22827	PUF60	HP:0000431	Wide nasal bridge
22827	PUF60	HP:0006712	Aplasia/Hypoplasia of the ribs
22827	PUF60	HP:0005484	Secondary microcephaly
22827	PUF60	HP:3000038	Abnormal cricoid cartilage morphology
22827	PUF60	HP:0001845	Overlapping toe
22827	PUF60	HP:0000527	Long eyelashes
22827	PUF60	HP:0001838	Rocker bottom foot
22827	PUF60	HP:0012584	Bilateral renal hypoplasia
22827	PUF60	HP:0000582	Upslanted palpebral fissure
22827	PUF60	HP:0000577	Exotropia
22827	PUF60	HP:0000589	Coloboma
22827	PUF60	HP:0011220	Prominent forehead
22827	PUF60	HP:0000574	Thick eyebrow
22827	PUF60	HP:0000568	Microphthalmia
22827	PUF60	HP:0000565	Esotropia
22827	PUF60	HP:0000540	Hypermetropia
22827	PUF60	HP:0001883	Talipes
22827	PUF60	HP:0000545	Myopia
22845	DOLK	HP:0002445	Tetraplegia
22845	DOLK	HP:0001270	Motor delay
22845	DOLK	HP:0001250	Seizure
22845	DOLK	HP:0001252	Hypotonia
22845	DOLK	HP:0001249	Intellectual disability
22845	DOLK	HP:0007359	Focal-onset seizure
22845	DOLK	HP:0002521	Hypsarrhythmia
22845	DOLK	HP:0025335	Delayed ability to stand
22845	DOLK	HP:0001344	Absent speech
22845	DOLK	HP:0000007	Autosomal recessive inheritance
22845	DOLK	HP:0008947	Infantile muscular hypotonia
22845	DOLK	HP:0002014	Diarrhea
22845	DOLK	HP:0002013	Vomiting
22845	DOLK	HP:0003323	Progressive muscle weakness
22845	DOLK	HP:0002069	Bilateral tonic-clonic seizure
22845	DOLK	HP:0100578	Lipoatrophy
22845	DOLK	HP:0003457	EMG abnormality
22845	DOLK	HP:0003593	Infantile onset
22845	DOLK	HP:0003577	Congenital onset
22845	DOLK	HP:0010841	Multifocal epileptiform discharges
22845	DOLK	HP:0010845	EEG with generalized slow activity
22845	DOLK	HP:0003642	Type I transferrin isoform profile
22845	DOLK	HP:0006829	Severe muscular hypotonia
22845	DOLK	HP:0000639	Nystagmus
22845	DOLK	HP:0011342	Mild global developmental delay
22845	DOLK	HP:0000653	Sparse eyelashes
22845	DOLK	HP:0001985	Hypoketotic hypoglycemia
22845	DOLK	HP:0004322	Short stature
22845	DOLK	HP:0031936	Delayed ability to walk
22845	DOLK	HP:0000729	Autistic behavior
22845	DOLK	HP:0030781	Increased circulating free fatty acid level
22845	DOLK	HP:0003198	Myopathy
22845	DOLK	HP:0000817	Reduced eye contact
22845	DOLK	HP:0003236	Elevated circulating creatine kinase concentration
22845	DOLK	HP:0045075	Sparse eyebrow
22845	DOLK	HP:0000982	Palmoplantar keratoderma
22845	DOLK	HP:0000958	Dry skin
22845	DOLK	HP:0000962	Hyperkeratosis
22845	DOLK	HP:0008064	Ichthyosis
22845	DOLK	HP:0011675	Arrhythmia
22845	DOLK	HP:0001596	Alopecia
22845	DOLK	HP:0000253	Progressive microcephaly
22845	DOLK	HP:0031319	Cardiomyocyte hypertrophy
22845	DOLK	HP:0031329	Interstitial cardiac fibrosis
22845	DOLK	HP:0001522	Death in infancy
22845	DOLK	HP:0001508	Failure to thrive
22845	DOLK	HP:0002835	Aspiration
22845	DOLK	HP:0012379	Abnormal circulating enzyme concentration or activity
22845	DOLK	HP:0002910	Elevated hepatic transaminase
22845	DOLK	HP:0001644	Dilated cardiomyopathy
22845	DOLK	HP:0001662	Bradycardia
22845	DOLK	HP:0001635	Congestive heart failure
22845	DOLK	HP:0000407	Sensorineural hearing impairment
22845	DOLK	HP:0000486	Strabismus
22845	DOLK	HP:0012469	Infantile spasms
22845	DOLK	HP:0011123	Inflammatory abnormality of the skin
22845	DOLK	HP:0005484	Secondary microcephaly
22845	DOLK	HP:0000505	Visual impairment
22845	DOLK	HP:0001874	Abnormality of neutrophils
22852	ANKRD26	HP:0000006	Autosomal dominant inheritance
22852	ANKRD26	HP:0011876	Abnormal platelet volume
22852	ANKRD26	HP:0001974	Leukocytosis
22852	ANKRD26	HP:0034010	Increased megakaryocyte colony forming unit count
22852	ANKRD26	HP:0000978	Bruising susceptibility
22852	ANKRD26	HP:0012524	Abnormal platelet shape
22852	ANKRD26	HP:0001873	Thrombocytopenia
22854	NTNG1	HP:0007328	Impaired pain sensation
22854	NTNG1	HP:0007281	Developmental stagnation
22854	NTNG1	HP:0025269	Panic attack
22854	NTNG1	HP:0001288	Gait disturbance
22854	NTNG1	HP:0001256	Intellectual disability, mild
22854	NTNG1	HP:0001250	Seizure
22854	NTNG1	HP:0001252	Hypotonia
22854	NTNG1	HP:0001249	Intellectual disability
22854	NTNG1	HP:0001257	Spasticity
22854	NTNG1	HP:0002540	Inability to walk
22854	NTNG1	HP:0002505	Loss of ambulation
22854	NTNG1	HP:0003808	Abnormal muscle tone
22854	NTNG1	HP:0025387	Pill-rolling tremor
22854	NTNG1	HP:0001332	Dystonia
22854	NTNG1	HP:0001337	Tremor
22854	NTNG1	HP:0002650	Scoliosis
22854	NTNG1	HP:0001319	Neonatal hypotonia
22854	NTNG1	HP:0012171	Stereotypical hand wringing
22854	NTNG1	HP:0002793	Abnormal pattern of respiration
22854	NTNG1	HP:0032588	Hand apraxia
22854	NTNG1	HP:0002066	Gait ataxia
22854	NTNG1	HP:0002123	Generalized myoclonic seizure
22854	NTNG1	HP:0002186	Apraxia
22854	NTNG1	HP:0002194	Delayed gross motor development
22854	NTNG1	HP:0100703	Tongue thrusting
22854	NTNG1	HP:0011968	Feeding difficulties
22854	NTNG1	HP:0002360	Sleep disturbance
22854	NTNG1	HP:0002376	Developmental regression
22854	NTNG1	HP:0002371	Loss of speech
22854	NTNG1	HP:0002353	EEG abnormality
22854	NTNG1	HP:0200055	Small hand
22854	NTNG1	HP:0002300	Mutism
22854	NTNG1	HP:0011344	Severe global developmental delay
22854	NTNG1	HP:0004302	Functional motor deficit
22854	NTNG1	HP:0004305	Involuntary movements
22854	NTNG1	HP:0100022	Abnormality of movement
22854	NTNG1	HP:0000735	Impaired social interactions
22854	NTNG1	HP:0012719	Functional abnormality of the gastrointestinal tract
22854	NTNG1	HP:0000748	Inappropriate laughter
22854	NTNG1	HP:0000713	Agitation
22854	NTNG1	HP:0000729	Autistic behavior
22854	NTNG1	HP:0000723	Restrictive behavior
22854	NTNG1	HP:0000817	Reduced eye contact
22854	NTNG1	HP:0045084	Limb myoclonus
22854	NTNG1	HP:0002808	Kyphosis
22854	NTNG1	HP:0002882	Sudden episodic apnea
22854	NTNG1	HP:0002876	Episodic tachypnea
22854	NTNG1	HP:0001510	Growth delay
22854	NTNG1	HP:0007824	Total ophthalmoplegia
22854	NTNG1	HP:0030215	Inappropriate crying
22854	NTNG1	HP:0012469	Infantile spasms
22854	NTNG1	HP:0001773	Short foot
22854	NTNG1	HP:0005484	Secondary microcephaly
22856	CHSY1	HP:0001156	Brachydactyly
22856	CHSY1	HP:0001159	Syndactyly
22856	CHSY1	HP:0002465	Poor speech
22856	CHSY1	HP:0009970	Partial duplication of the proximal phalanx of the 3rd finger
22856	CHSY1	HP:0009966	Complete duplication of the middle phalanx of the 3rd finger
22856	CHSY1	HP:0008619	Bilateral sensorineural hearing impairment
22856	CHSY1	HP:0008625	Severe sensorineural hearing impairment
22856	CHSY1	HP:0009942	Duplication of thumb phalanx
22856	CHSY1	HP:0009944	Partial duplication of thumb phalanx
22856	CHSY1	HP:0001249	Intellectual disability
22856	CHSY1	HP:0001263	Global developmental delay
22856	CHSY1	HP:0001234	Hitchhiker thumb
22856	CHSY1	HP:0002553	Highly arched eyebrow
22856	CHSY1	HP:0001357	Plagiocephaly
22856	CHSY1	HP:0006152	Proximal symphalangism of hands
22856	CHSY1	HP:0001328	Specific learning disability
22856	CHSY1	HP:0000007	Autosomal recessive inheritance
22856	CHSY1	HP:0000164	Abnormality of the dentition
22856	CHSY1	HP:0000160	Narrow mouth
22856	CHSY1	HP:0000175	Cleft palate
22856	CHSY1	HP:0002002	Deep philtrum
22856	CHSY1	HP:0009466	Radial deviation of finger
22856	CHSY1	HP:0009608	Complete duplication of proximal phalanx of the thumb
22856	CHSY1	HP:0010554	Cutaneous finger syndactyly
22856	CHSY1	HP:0009702	Carpal synostosis
22856	CHSY1	HP:0008368	Tarsal synostosis
22856	CHSY1	HP:0001090	Abnormally large globe
22856	CHSY1	HP:0010743	Short metatarsal
22856	CHSY1	HP:0004209	Clinodactyly of the 5th finger
22856	CHSY1	HP:0004279	Short palm
22856	CHSY1	HP:0000648	Optic atrophy
22856	CHSY1	HP:0010049	Short metacarpal
22856	CHSY1	HP:0000699	Diastema
22856	CHSY1	HP:0000677	Oligodontia
22856	CHSY1	HP:0000692	Tooth malposition
22856	CHSY1	HP:0000691	Microdontia
22856	CHSY1	HP:0000668	Hypodontia
22856	CHSY1	HP:0001999	Abnormal facial shape
22856	CHSY1	HP:0000664	Synophrys
22856	CHSY1	HP:0004322	Short stature
22856	CHSY1	HP:0012795	Abnormal optic disc morphology
22856	CHSY1	HP:0010109	Short hallux
22856	CHSY1	HP:0003196	Short nose
22856	CHSY1	HP:0100347	Tibial deviation of the 5th toe
22856	CHSY1	HP:0100345	Tibial deviation of the 2nd toe
22856	CHSY1	HP:0040022	Clinodactyly of the 2nd finger
22856	CHSY1	HP:0100266	Synostosis of carpals/tarsals
22856	CHSY1	HP:0040159	Abnormal spaced incisors
22856	CHSY1	HP:0030084	Clinodactyly
22856	CHSY1	HP:0005037	Proximal radio-ulnar synostosis
22856	CHSY1	HP:0001566	Widely-spaced maxillary central incisors
22856	CHSY1	HP:0001510	Growth delay
22856	CHSY1	HP:0011087	Talon cusp
22856	CHSY1	HP:0011078	Abnormality of canine
22856	CHSY1	HP:0000369	Low-set ears
22856	CHSY1	HP:0000347	Micrognathia
22856	CHSY1	HP:0000316	Hypertelorism
22856	CHSY1	HP:0000311	Round face
22856	CHSY1	HP:0002974	Radioulnar synostosis
22856	CHSY1	HP:0000327	Hypoplasia of the maxilla
22856	CHSY1	HP:0001773	Short foot
22856	CHSY1	HP:0011297	Abnormal digit morphology
22856	CHSY1	HP:0000517	Abnormal lens morphology
22856	CHSY1	HP:0000592	Blue sclerae
22858	CILK1	HP:0001156	Brachydactyly
22858	CILK1	HP:0001159	Syndactyly
22858	CILK1	HP:0001274	Agenesis of corpus callosum
22858	CILK1	HP:0001249	Intellectual disability
22858	CILK1	HP:0001234	Hitchhiker thumb
22858	CILK1	HP:0008749	Laryngeal hypoplasia
22858	CILK1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
22858	CILK1	HP:0003829	Typified by incomplete penetrance
22858	CILK1	HP:0000062	Ambiguous genitalia
22858	CILK1	HP:0000046	Small scrotum
22858	CILK1	HP:0000047	Hypospadias
22858	CILK1	HP:0001360	Holoprosencephaly
22858	CILK1	HP:0000028	Cryptorchidism
22858	CILK1	HP:0001331	Absent septum pellucidum
22858	CILK1	HP:0000007	Autosomal recessive inheritance
22858	CILK1	HP:0000006	Autosomal dominant inheritance
22858	CILK1	HP:0003956	Bowed forearm bones
22858	CILK1	HP:0032466	Aplasia of the olfactory bulb
22858	CILK1	HP:0032471	Focal polymicrogyria
22858	CILK1	HP:0000161	Median cleft lip
22858	CILK1	HP:0000153	Abnormality of the mouth
22858	CILK1	HP:0000105	Enlarged kidney
22858	CILK1	HP:0011800	Midface retrusion
22858	CILK1	HP:0002069	Bilateral tonic-clonic seizure
22858	CILK1	HP:0009487	Ulnar deviation of the hand
22858	CILK1	HP:0002123	Generalized myoclonic seizure
22858	CILK1	HP:0002121	Generalized non-motor (absence) seizure
22858	CILK1	HP:0002119	Ventriculomegaly
22858	CILK1	HP:0002133	Status epilepticus
22858	CILK1	HP:0002197	Generalized-onset seizure
22858	CILK1	HP:0010502	Fibular bowing
22858	CILK1	HP:0004719	Hyperechogenic kidneys
22858	CILK1	HP:0007000	Morning myoclonic jerks
22858	CILK1	HP:0002392	EEG with polyspike wave complexes
22858	CILK1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
22858	CILK1	HP:0007207	Photosensitive tonic-clonic seizure
22858	CILK1	HP:0009755	Ankyloblepharon
22858	CILK1	HP:0003623	Neonatal onset
22858	CILK1	HP:0003621	Juvenile onset
22858	CILK1	HP:0009099	Median cleft palate
22858	CILK1	HP:0000601	Hypotelorism
22858	CILK1	HP:0000695	Natal tooth
22858	CILK1	HP:0030674	Antenatal onset
22858	CILK1	HP:0000718	Aggressive behavior
22858	CILK1	HP:0011463	Childhood onset
22858	CILK1	HP:0000774	Narrow chest
22858	CILK1	HP:0000835	Adrenal hypoplasia
22858	CILK1	HP:0100336	Bilateral cleft lip
22858	CILK1	HP:0100259	Postaxial polydactyly
22858	CILK1	HP:0100258	Preaxial polydactyly
22858	CILK1	HP:0000954	Single transverse palmar crease
22858	CILK1	HP:0012245	Sex reversal
22858	CILK1	HP:0000268	Dolichocephaly
22858	CILK1	HP:0000238	Hydrocephalus
22858	CILK1	HP:0001552	Barrel-shaped chest
22858	CILK1	HP:0000215	Thick upper lip vermilion
22858	CILK1	HP:0001561	Polyhydramnios
22858	CILK1	HP:0000369	Low-set ears
22858	CILK1	HP:0000347	Micrognathia
22858	CILK1	HP:0002982	Tibial bowing
22858	CILK1	HP:0002983	Micromelia
22858	CILK1	HP:0006610	Wide intermamillary distance
22858	CILK1	HP:0005349	Hypoplasia of the epiglottis
22858	CILK1	HP:0000496	Abnormality of eye movement
22858	CILK1	HP:0000490	Deeply set eye
22858	CILK1	HP:0000437	Depressed nasal tip
22858	CILK1	HP:0030260	Microphallus
22858	CILK1	HP:0001762	Talipes equinovarus
22858	CILK1	HP:0000431	Wide nasal bridge
22858	CILK1	HP:0001852	Sandal gap
22859	ADGRL1	HP:0001250	Seizure
22859	ADGRL1	HP:0001252	Hypotonia
22859	ADGRL1	HP:0001249	Intellectual disability
22859	ADGRL1	HP:0001263	Global developmental delay
22859	ADGRL1	HP:0032388	Periventricular nodular heterotopia
22859	ADGRL1	HP:0025336	Delayed ability to sit
22859	ADGRL1	HP:0001382	Joint hypermobility
22859	ADGRL1	HP:0000006	Autosomal dominant inheritance
22859	ADGRL1	HP:0007018	Attention deficit hyperactivity disorder
22859	ADGRL1	HP:0002360	Sleep disturbance
22859	ADGRL1	HP:0031936	Delayed ability to walk
22859	ADGRL1	HP:0000750	Delayed speech and language development
22859	ADGRL1	HP:0000729	Autistic behavior
22859	ADGRL1	HP:0000256	Macrocephaly
22859	ADGRL1	HP:0025502	Overweight
22859	ADGRL1	HP:0000540	Hypermetropia
22861	NLRP1	HP:0100837	Atrophodermia vermiculata
22861	NLRP1	HP:0010982	Polygenic inheritance
22861	NLRP1	HP:0006094	Finger joint hypermobility
22861	NLRP1	HP:0032347	Cutaneous macular amyloidosis
22861	NLRP1	HP:0007502	Follicular hyperkeratosis
22861	NLRP1	HP:0000007	Autosomal recessive inheritance
22861	NLRP1	HP:0000006	Autosomal dominant inheritance
22861	NLRP1	HP:0003493	Antinuclear antibody positivity
22861	NLRP1	HP:0011859	Punctate keratitis
22861	NLRP1	HP:0003593	Infantile onset
22861	NLRP1	HP:0002240	Hepatomegaly
22861	NLRP1	HP:0002257	Chronic rhinitis
22861	NLRP1	HP:0008404	Nail dystrophy
22861	NLRP1	HP:0032061	Hypereosinophilia
22861	NLRP1	HP:0001036	Parakeratosis
22861	NLRP1	HP:0001045	Vitiligo
22861	NLRP1	HP:0100646	Thyroiditis
22861	NLRP1	HP:0025092	Epidermal acanthosis
22861	NLRP1	HP:0001097	Keratoconjunctivitis sicca
22861	NLRP1	HP:0032152	Keratosis pilaris
22861	NLRP1	HP:0032107	Limbal stem cell deficiency
22861	NLRP1	HP:0000613	Photophobia
22861	NLRP1	HP:0001954	Recurrent fever
22861	NLRP1	HP:0011496	Corneal neovascularization
22861	NLRP1	HP:0011463	Childhood onset
22861	NLRP1	HP:0030731	Carcinoma
22861	NLRP1	HP:0005764	Polyarticular arthritis
22861	NLRP1	HP:0003237	Increased circulating IgG level
22861	NLRP1	HP:0003261	Increased circulating IgA level
22861	NLRP1	HP:0000972	Palmoplantar hyperkeratosis
22861	NLRP1	HP:0033001	Laryngeal papilloma
22861	NLRP1	HP:0000982	Palmoplantar keratoderma
22861	NLRP1	HP:0000958	Dry skin
22861	NLRP1	HP:0000968	Ectodermal dysplasia
22861	NLRP1	HP:0002860	Squamous cell carcinoma
22861	NLRP1	HP:0001508	Failure to thrive
22861	NLRP1	HP:0001510	Growth delay
22861	NLRP1	HP:0011034	Amyloidosis
22861	NLRP1	HP:0001609	Hoarse voice
22861	NLRP1	HP:0000343	Long philtrum
22861	NLRP1	HP:0000470	Short neck
22861	NLRP1	HP:0001744	Splenomegaly
22861	NLRP1	HP:0000505	Visual impairment
22861	NLRP1	HP:0011227	Elevated circulating C-reactive protein concentration
22861	NLRP1	HP:0001890	Autoimmune hemolytic anemia
22861	NLRP1	HP:0000554	Uveitis
22866	CNKSR2	HP:0002421	Poor head control
22866	CNKSR2	HP:0001298	Encephalopathy
22866	CNKSR2	HP:0001290	Generalized hypotonia
22866	CNKSR2	HP:0001273	Abnormal corpus callosum morphology
22866	CNKSR2	HP:0001268	Mental deterioration
22866	CNKSR2	HP:0001250	Seizure
22866	CNKSR2	HP:0001251	Ataxia
22866	CNKSR2	HP:0001249	Intellectual disability
22866	CNKSR2	HP:0001265	Hyporeflexia
22866	CNKSR2	HP:0001263	Global developmental delay
22866	CNKSR2	HP:0001257	Spasticity
22866	CNKSR2	HP:0002521	Hypsarrhythmia
22866	CNKSR2	HP:0002509	Limb hypertonia
22866	CNKSR2	HP:0001328	Specific learning disability
22866	CNKSR2	HP:0001344	Absent speech
22866	CNKSR2	HP:0001337	Tremor
22866	CNKSR2	HP:0001336	Myoclonus
22866	CNKSR2	HP:0001315	Reduced tendon reflexes
22866	CNKSR2	HP:0001417	X-linked inheritance
22866	CNKSR2	HP:0002020	Gastroesophageal reflux
22866	CNKSR2	HP:0002063	Rigidity
22866	CNKSR2	HP:0002059	Cerebral atrophy
22866	CNKSR2	HP:0002120	Cerebral cortical atrophy
22866	CNKSR2	HP:0002133	Status epilepticus
22866	CNKSR2	HP:0100710	Impulsivity
22866	CNKSR2	HP:0007018	Attention deficit hyperactivity disorder
22866	CNKSR2	HP:0011968	Feeding difficulties
22866	CNKSR2	HP:0002376	Developmental regression
22866	CNKSR2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
22866	CNKSR2	HP:0002355	Difficulty walking
22866	CNKSR2	HP:0002317	Unsteady gait
22866	CNKSR2	HP:0010844	EEG with multifocal slow activity
22866	CNKSR2	HP:0100660	Dyskinesia
22866	CNKSR2	HP:0000639	Nystagmus
22866	CNKSR2	HP:0000648	Optic atrophy
22866	CNKSR2	HP:0000668	Hypodontia
22866	CNKSR2	HP:0004322	Short stature
22866	CNKSR2	HP:0004305	Involuntary movements
22866	CNKSR2	HP:0031936	Delayed ability to walk
22866	CNKSR2	HP:0000752	Hyperactivity
22866	CNKSR2	HP:0000750	Delayed speech and language development
22866	CNKSR2	HP:0000717	Autism
22866	CNKSR2	HP:0000708	Atypical behavior
22866	CNKSR2	HP:0011443	Abnormality of coordination
22866	CNKSR2	HP:0030891	Periventricular white matter hyperintensities
22866	CNKSR2	HP:0000252	Microcephaly
22866	CNKSR2	HP:0001558	Decreased fetal movement
22866	CNKSR2	HP:0001508	Failure to thrive
22866	CNKSR2	HP:0000348	High forehead
22866	CNKSR2	HP:0031491	Continuous spike and waves during slow sleep
22866	CNKSR2	HP:0000494	Downslanted palpebral fissures
22866	CNKSR2	HP:0012444	Brain atrophy
22866	CNKSR2	HP:0012447	Abnormal myelination
22866	CNKSR2	HP:0000508	Ptosis
22866	CNKSR2	HP:0000504	Abnormality of vision
22866	CNKSR2	HP:0012547	Abnormal involuntary eye movements
22866	CNKSR2	HP:0000546	Retinal degeneration
22868	FASTKD2	HP:0001290	Generalized hypotonia
22868	FASTKD2	HP:0001250	Seizure
22868	FASTKD2	HP:0001263	Global developmental delay
22868	FASTKD2	HP:0001350	Slurred speech
22868	FASTKD2	HP:0000007	Autosomal recessive inheritance
22868	FASTKD2	HP:0002600	Hyporeflexia of lower limbs
22868	FASTKD2	HP:0002059	Cerebral atrophy
22868	FASTKD2	HP:0002151	Increased serum lactate
22868	FASTKD2	HP:0100660	Dyskinesia
22868	FASTKD2	HP:0000639	Nystagmus
22868	FASTKD2	HP:0031936	Delayed ability to walk
22868	FASTKD2	HP:0012751	Abnormal basal ganglia MRI signal intensity
22868	FASTKD2	HP:0001639	Hypertrophic cardiomyopathy
22871	NLGN1	HP:0001263	Global developmental delay
22871	NLGN1	HP:0000006	Autosomal dominant inheritance
22871	NLGN1	HP:0007018	Attention deficit hyperactivity disorder
22871	NLGN1	HP:0000735	Impaired social interactions
22871	NLGN1	HP:0000729	Autistic behavior
22872	SEC31A	HP:0001276	Hypertonia
22872	SEC31A	HP:0001274	Agenesis of corpus callosum
22872	SEC31A	HP:0007359	Focal-onset seizure
22872	SEC31A	HP:0002540	Inability to walk
22872	SEC31A	HP:0002510	Spastic tetraplegia
22872	SEC31A	HP:0002507	Semilobar holoprosencephaly
22872	SEC31A	HP:0003819	Death in childhood
22872	SEC31A	HP:0001371	Flexion contracture
22872	SEC31A	HP:0000023	Inguinal hernia
22872	SEC31A	HP:0001347	Hyperreflexia
22872	SEC31A	HP:0000007	Autosomal recessive inheritance
22872	SEC31A	HP:0002020	Gastroesophageal reflux
22872	SEC31A	HP:0002119	Ventriculomegaly
22872	SEC31A	HP:0002197	Generalized-onset seizure
22872	SEC31A	HP:0007024	Pseudobulbar paralysis
22872	SEC31A	HP:0000648	Optic atrophy
22872	SEC31A	HP:0000776	Congenital diaphragmatic hernia
22872	SEC31A	HP:0011682	Perimembranous ventricular septal defect
22872	SEC31A	HP:0002827	Hip dislocation
22872	SEC31A	HP:0000218	High palate
22872	SEC31A	HP:0001537	Umbilical hernia
22872	SEC31A	HP:0001508	Failure to thrive
22872	SEC31A	HP:0002835	Aspiration
22872	SEC31A	HP:0030048	Colpocephaly
22872	SEC31A	HP:0001511	Intrauterine growth retardation
22872	SEC31A	HP:0000365	Hearing impairment
22872	SEC31A	HP:0000347	Micrognathia
22872	SEC31A	HP:0000325	Triangular face
22872	SEC31A	HP:0012471	Thick vermilion border
22872	SEC31A	HP:0001762	Talipes equinovarus
22872	SEC31A	HP:0000519	Developmental cataract
22872	SEC31A	HP:0000527	Long eyelashes
22873	DZIP1	HP:0003831	Typified by age-related disease onset
22873	DZIP1	HP:0000007	Autosomal recessive inheritance
22873	DZIP1	HP:0000006	Autosomal dominant inheritance
22873	DZIP1	HP:0032558	Absent sperm flagella
22873	DZIP1	HP:0032559	Short sperm flagella
22873	DZIP1	HP:0000798	Oligospermia
22873	DZIP1	HP:0003251	Male infertility
22873	DZIP1	HP:0012208	Immotile sperm
22873	DZIP1	HP:0001653	Mitral regurgitation
22873	DZIP1	HP:0001634	Mitral valve prolapse
22880	MORC2	HP:0001171	Split hand
22880	MORC2	HP:0002495	Impaired vibratory sensation
22880	MORC2	HP:0002493	Upper motor neuron dysfunction
22880	MORC2	HP:0003797	Limb-girdle muscle atrophy
22880	MORC2	HP:0002460	Distal muscle weakness
22880	MORC2	HP:0007327	Mixed demyelinating and axonal polyneuropathy
22880	MORC2	HP:0007269	Spinal muscular atrophy
22880	MORC2	HP:0007256	Abnormal pyramidal sign
22880	MORC2	HP:0007230	Decreased distal sensory nerve action potential
22880	MORC2	HP:0007210	Lower limb amyotrophy
22880	MORC2	HP:0002411	Myokymia
22880	MORC2	HP:0003701	Proximal muscle weakness
22880	MORC2	HP:0001290	Generalized hypotonia
22880	MORC2	HP:0001276	Hypertonia
22880	MORC2	HP:0001272	Cerebellar atrophy
22880	MORC2	HP:0001270	Motor delay
22880	MORC2	HP:0001288	Gait disturbance
22880	MORC2	HP:0001284	Areflexia
22880	MORC2	HP:0001250	Seizure
22880	MORC2	HP:0001252	Hypotonia
22880	MORC2	HP:0001251	Ataxia
22880	MORC2	HP:0001249	Intellectual disability
22880	MORC2	HP:0001265	Hyporeflexia
22880	MORC2	HP:0001263	Global developmental delay
22880	MORC2	HP:0001257	Spasticity
22880	MORC2	HP:0002540	Inability to walk
22880	MORC2	HP:0002515	Waddling gait
22880	MORC2	HP:0002500	Abnormal cerebral white matter morphology
22880	MORC2	HP:0000020	Urinary incontinence
22880	MORC2	HP:0001347	Hyperreflexia
22880	MORC2	HP:0031189	Wrist drop
22880	MORC2	HP:0001328	Specific learning disability
22880	MORC2	HP:0001337	Tremor
22880	MORC2	HP:0000006	Autosomal dominant inheritance
22880	MORC2	HP:0002650	Scoliosis
22880	MORC2	HP:0001315	Reduced tendon reflexes
22880	MORC2	HP:0008994	Proximal muscle weakness in lower limbs
22880	MORC2	HP:0008997	Proximal muscle weakness in upper limbs
22880	MORC2	HP:0007641	Dyschromatopsia
22880	MORC2	HP:0008959	Distal upper limb muscle weakness
22880	MORC2	HP:0008948	Proximal upper limb amyotrophy
22880	MORC2	HP:0008954	Intrinsic hand muscle atrophy
22880	MORC2	HP:0008944	Distal lower limb amyotrophy
22880	MORC2	HP:0002747	Respiratory insufficiency due to muscle weakness
22880	MORC2	HP:0003325	Limb-girdle muscle weakness
22880	MORC2	HP:0003324	Generalized muscle weakness
22880	MORC2	HP:0002066	Gait ataxia
22880	MORC2	HP:0003394	Muscle spasm
22880	MORC2	HP:0003390	Sensory axonal neuropathy
22880	MORC2	HP:0002059	Cerebral atrophy
22880	MORC2	HP:0009473	Joint contracture of the hand
22880	MORC2	HP:0003477	Peripheral axonal neuropathy
22880	MORC2	HP:0003474	Somatic sensory dysfunction
22880	MORC2	HP:0003487	Babinski sign
22880	MORC2	HP:0003484	Upper limb muscle weakness
22880	MORC2	HP:0003431	Decreased motor nerve conduction velocity
22880	MORC2	HP:0003438	Absent Achilles reflex
22880	MORC2	HP:0002188	Delayed CNS myelination
22880	MORC2	HP:0002194	Delayed gross motor development
22880	MORC2	HP:0002167	Abnormality of speech or vocalization
22880	MORC2	HP:0007002	Motor axonal neuropathy
22880	MORC2	HP:0007078	Decreased amplitude of sensory action potentials
22880	MORC2	HP:0002380	Fasciculations
22880	MORC2	HP:0003693	Distal amyotrophy
22880	MORC2	HP:0001047	Atopic dermatitis
22880	MORC2	HP:0002355	Difficulty walking
22880	MORC2	HP:0003677	Slowly progressive
22880	MORC2	HP:0010830	Impaired tactile sensation
22880	MORC2	HP:0002311	Incoordination
22880	MORC2	HP:0002312	Clumsiness
22880	MORC2	HP:0003621	Juvenile onset
22880	MORC2	HP:0006858	Impaired distal proprioception
22880	MORC2	HP:0006827	Atrophy of the spinal cord
22880	MORC2	HP:0006886	Impaired distal vibration sensation
22880	MORC2	HP:0009053	Distal lower limb muscle weakness
22880	MORC2	HP:0009046	Difficulty running
22880	MORC2	HP:0009027	Foot dorsiflexor weakness
22880	MORC2	HP:0001999	Abnormal facial shape
22880	MORC2	HP:0031947	Tongue tremor
22880	MORC2	HP:0004322	Short stature
22880	MORC2	HP:0004302	Functional motor deficit
22880	MORC2	HP:0006970	Periventricular leukomalacia
22880	MORC2	HP:0006937	Impaired distal tactile sensation
22880	MORC2	HP:0000750	Delayed speech and language development
22880	MORC2	HP:0012785	Flexion contracture of finger
22880	MORC2	HP:0011462	Young adult onset
22880	MORC2	HP:0009129	Upper limb amyotrophy
22880	MORC2	HP:0003130	Abnormal peripheral myelination
22880	MORC2	HP:0005879	Congenital finger flexion contractures
22880	MORC2	HP:0040131	Abnormal motor nerve conduction velocity
22880	MORC2	HP:0100290	Abnormality of peripheral somatosensory evoked potentials
22880	MORC2	HP:0007703	Abnormality of retinal pigmentation
22880	MORC2	HP:0000252	Microcephaly
22880	MORC2	HP:0030051	Tip-toe gait
22880	MORC2	HP:0012378	Fatigue
22880	MORC2	HP:0006597	Diaphragmatic paralysis
22880	MORC2	HP:0002936	Distal sensory impairment
22880	MORC2	HP:0000365	Hearing impairment
22880	MORC2	HP:0001620	High pitched voice
22880	MORC2	HP:0012473	Tongue atrophy
22880	MORC2	HP:0030237	Hand muscle weakness
22880	MORC2	HP:0012444	Brain atrophy
22880	MORC2	HP:0012447	Abnormal myelination
22880	MORC2	HP:0000467	Neck muscle weakness
22880	MORC2	HP:0001763	Pes planus
22880	MORC2	HP:0001765	Hammertoe
22880	MORC2	HP:0001761	Pes cavus
22880	MORC2	HP:0000518	Cataract
22880	MORC2	HP:0000580	Pigmentary retinopathy
22884	WDR37	HP:0001250	Seizure
22884	WDR37	HP:0001249	Intellectual disability
22884	WDR37	HP:0001263	Global developmental delay
22884	WDR37	HP:0008689	Bilateral cryptorchidism
22884	WDR37	HP:0001344	Absent speech
22884	WDR37	HP:0000006	Autosomal dominant inheritance
22884	WDR37	HP:0001317	Abnormal cerebellum morphology
22884	WDR37	HP:0002714	Downturned corners of mouth
22884	WDR37	HP:0005989	Redundant neck skin
22884	WDR37	HP:0010490	Abnormality of the palmar creases
22884	WDR37	HP:0000659	Peters anomaly
22884	WDR37	HP:0000286	Epicanthus
22884	WDR37	HP:0005180	Tricuspid regurgitation
22884	WDR37	HP:0000369	Low-set ears
22884	WDR37	HP:0000348	High forehead
22884	WDR37	HP:0000319	Smooth philtrum
22884	WDR37	HP:0000316	Hypertelorism
22884	WDR37	HP:0001643	Patent ductus arteriosus
22884	WDR37	HP:0001655	Patent foramen ovale
22884	WDR37	HP:0001629	Ventricular septal defect
22884	WDR37	HP:0001640	Cardiomegaly
22884	WDR37	HP:0001631	Atrial septal defect
22884	WDR37	HP:0006610	Wide intermamillary distance
22884	WDR37	HP:0000407	Sensorineural hearing impairment
22884	WDR37	HP:0000426	Prominent nasal bridge
22884	WDR37	HP:0005484	Secondary microcephaly
22884	WDR37	HP:0000589	Coloboma
22884	WDR37	HP:0000568	Microphthalmia
22891	ZNF365	HP:0002494	Abnormal rapid eye movement sleep
22891	ZNF365	HP:0001279	Syncope
22891	ZNF365	HP:0001262	Excessive daytime somnolence
22891	ZNF365	HP:0002524	Cataplexy
22891	ZNF365	HP:0001350	Slurred speech
22891	ZNF365	HP:0010534	Transient global amnesia
22891	ZNF365	HP:0100785	Insomnia
22891	ZNF365	HP:0002360	Sleep disturbance
22891	ZNF365	HP:0000738	Hallucinations
22891	ZNF365	HP:0000708	Atypical behavior
22891	ZNF365	HP:0001513	Obesity
22891	ZNF365	HP:0000478	Abnormality of the eye
22891	ZNF365	HP:0000504	Abnormality of vision
22897	CEP164	HP:0003774	Stage 5 chronic kidney disease
22897	CEP164	HP:0001250	Seizure
22897	CEP164	HP:0001251	Ataxia
22897	CEP164	HP:0001263	Global developmental delay
22897	CEP164	HP:0000090	Nephronophthisis
22897	CEP164	HP:0000007	Autosomal recessive inheritance
22897	CEP164	HP:0001320	Cerebellar vermis hypoplasia
22897	CEP164	HP:0002612	Congenital hepatic fibrosis
22897	CEP164	HP:0010442	Polydactyly
22897	CEP164	HP:0008209	Premature ovarian insufficiency
22897	CEP164	HP:0010579	Cone-shaped epiphysis
22897	CEP164	HP:0012622	Chronic kidney disease
22897	CEP164	HP:0000639	Nystagmus
22897	CEP164	HP:0000618	Blindness
22897	CEP164	HP:0004322	Short stature
22897	CEP164	HP:0004348	Abnormality of bone mineral density
22897	CEP164	HP:0000822	Hypertension
22897	CEP164	HP:0007703	Abnormality of retinal pigmentation
22897	CEP164	HP:0001513	Obesity
22897	CEP164	HP:0002910	Elevated hepatic transaminase
22897	CEP164	HP:0000518	Cataract
22897	CEP164	HP:0000529	Progressive visual loss
22897	CEP164	HP:0000505	Visual impairment
22897	CEP164	HP:0000556	Retinal dystrophy
22897	CEP164	HP:0000546	Retinal degeneration
22900	CARD8	HP:0000006	Autosomal dominant inheritance
22900	CARD8	HP:0032564	Ileitis
22900	CARD8	HP:0002027	Abdominal pain
22900	CARD8	HP:0002028	Chronic diarrhea
22900	CARD8	HP:0002013	Vomiting
22900	CARD8	HP:0033117	Duodenitis
22900	CARD8	HP:0033256	Pancolitis
22900	CARD8	HP:0002243	Protein-losing enteropathy
22900	CARD8	HP:0002242	Abnormal intestine morphology
22900	CARD8	HP:0025085	Bloody diarrhea
22900	CARD8	HP:0100633	Esophagitis
22900	CARD8	HP:0005263	Gastritis
22901	ARSG	HP:0001133	Constriction of peripheral visual field
22901	ARSG	HP:0001105	Retinal atrophy
22901	ARSG	HP:0001251	Ataxia
22901	ARSG	HP:0000007	Autosomal recessive inheritance
22901	ARSG	HP:0100753	Schizophrenia
22901	ARSG	HP:0008499	High hypermetropia
22901	ARSG	HP:0030529	Ring scotoma
22901	ARSG	HP:0000662	Nyctalopia
22901	ARSG	HP:0030631	Hyperautofluorescent macular lesion
22901	ARSG	HP:0000738	Hallucinations
22901	ARSG	HP:0000739	Anxiety
22901	ARSG	HP:0000716	Depression
22901	ARSG	HP:0007737	Bone spicule pigmentation of the retina
22901	ARSG	HP:0007730	Iris hypopigmentation
22901	ARSG	HP:0012377	Hemianopia
22901	ARSG	HP:0000375	Abnormal cochlea morphology
22901	ARSG	HP:0000408	Progressive sensorineural hearing impairment
22901	ARSG	HP:0000407	Sensorineural hearing impairment
22901	ARSG	HP:0000483	Astigmatism
22901	ARSG	HP:0001751	Abnormal vestibular function
22901	ARSG	HP:0001756	Vestibular hypofunction
22901	ARSG	HP:0000518	Cataract
22901	ARSG	HP:0000512	Abnormal electroretinogram
22901	ARSG	HP:0000575	Scotoma
22901	ARSG	HP:0000572	Visual loss
22901	ARSG	HP:0000546	Retinal degeneration
22906	TRAK1	HP:0002421	Poor head control
22906	TRAK1	HP:0001298	Encephalopathy
22906	TRAK1	HP:0001290	Generalized hypotonia
22906	TRAK1	HP:0001273	Abnormal corpus callosum morphology
22906	TRAK1	HP:0001268	Mental deterioration
22906	TRAK1	HP:0001250	Seizure
22906	TRAK1	HP:0001251	Ataxia
22906	TRAK1	HP:0001249	Intellectual disability
22906	TRAK1	HP:0001265	Hyporeflexia
22906	TRAK1	HP:0001263	Global developmental delay
22906	TRAK1	HP:0001257	Spasticity
22906	TRAK1	HP:0002521	Hypsarrhythmia
22906	TRAK1	HP:0002509	Limb hypertonia
22906	TRAK1	HP:0001371	Flexion contracture
22906	TRAK1	HP:0001347	Hyperreflexia
22906	TRAK1	HP:0000007	Autosomal recessive inheritance
22906	TRAK1	HP:0001337	Tremor
22906	TRAK1	HP:0001336	Myoclonus
22906	TRAK1	HP:0001315	Reduced tendon reflexes
22906	TRAK1	HP:0002020	Gastroesophageal reflux
22906	TRAK1	HP:0002098	Respiratory distress
22906	TRAK1	HP:0002063	Rigidity
22906	TRAK1	HP:0002059	Cerebral atrophy
22906	TRAK1	HP:0002120	Cerebral cortical atrophy
22906	TRAK1	HP:0002133	Status epilepticus
22906	TRAK1	HP:0002169	Clonus
22906	TRAK1	HP:0010546	Muscle fibrillation
22906	TRAK1	HP:0002267	Exaggerated startle response
22906	TRAK1	HP:0100710	Impulsivity
22906	TRAK1	HP:0007018	Attention deficit hyperactivity disorder
22906	TRAK1	HP:0011968	Feeding difficulties
22906	TRAK1	HP:0002376	Developmental regression
22906	TRAK1	HP:0003676	Progressive
22906	TRAK1	HP:0002355	Difficulty walking
22906	TRAK1	HP:0002317	Unsteady gait
22906	TRAK1	HP:0010844	EEG with multifocal slow activity
22906	TRAK1	HP:0100660	Dyskinesia
22906	TRAK1	HP:0000639	Nystagmus
22906	TRAK1	HP:0000648	Optic atrophy
22906	TRAK1	HP:0000668	Hypodontia
22906	TRAK1	HP:0004322	Short stature
22906	TRAK1	HP:0004305	Involuntary movements
22906	TRAK1	HP:0000750	Delayed speech and language development
22906	TRAK1	HP:0000717	Autism
22906	TRAK1	HP:0000708	Atypical behavior
22906	TRAK1	HP:0011443	Abnormality of coordination
22906	TRAK1	HP:0000252	Microcephaly
22906	TRAK1	HP:0001558	Decreased fetal movement
22906	TRAK1	HP:0001508	Failure to thrive
22906	TRAK1	HP:0000348	High forehead
22906	TRAK1	HP:0000494	Downslanted palpebral fissures
22906	TRAK1	HP:0012444	Brain atrophy
22906	TRAK1	HP:0012447	Abnormal myelination
22906	TRAK1	HP:0000508	Ptosis
22906	TRAK1	HP:0000504	Abnormality of vision
22906	TRAK1	HP:0012547	Abnormal involuntary eye movements
22906	TRAK1	HP:0000546	Retinal degeneration
22907	DHX30	HP:0001169	Broad palm
22907	DHX30	HP:0001182	Tapered finger
22907	DHX30	HP:0009899	Prominent crus of helix
22907	DHX30	HP:0003763	Bruxism
22907	DHX30	HP:0001272	Cerebellar atrophy
22907	DHX30	HP:0001270	Motor delay
22907	DHX30	HP:0001250	Seizure
22907	DHX30	HP:0001252	Hypotonia
22907	DHX30	HP:0001251	Ataxia
22907	DHX30	HP:0001249	Intellectual disability
22907	DHX30	HP:0001265	Hyporeflexia
22907	DHX30	HP:0001263	Global developmental delay
22907	DHX30	HP:0001212	Prominent fingertip pads
22907	DHX30	HP:0002540	Inability to walk
22907	DHX30	HP:0001382	Joint hypermobility
22907	DHX30	HP:0001332	Dystonia
22907	DHX30	HP:0001344	Absent speech
22907	DHX30	HP:0000006	Autosomal dominant inheritance
22907	DHX30	HP:0002650	Scoliosis
22907	DHX30	HP:0012171	Stereotypical hand wringing
22907	DHX30	HP:0000194	Open mouth
22907	DHX30	HP:0002072	Chorea
22907	DHX30	HP:0002059	Cerebral atrophy
22907	DHX30	HP:0002119	Ventriculomegaly
22907	DHX30	HP:0002188	Delayed CNS myelination
22907	DHX30	HP:0003593	Infantile onset
22907	DHX30	HP:0011968	Feeding difficulties
22907	DHX30	HP:0002360	Sleep disturbance
22907	DHX30	HP:0010808	Protruding tongue
22907	DHX30	HP:0011304	Broad thumb
22907	DHX30	HP:0000664	Synophrys
22907	DHX30	HP:0004305	Involuntary movements
22907	DHX30	HP:0031936	Delayed ability to walk
22907	DHX30	HP:0012724	Upper eyelid edema
22907	DHX30	HP:0000750	Delayed speech and language development
22907	DHX30	HP:0000729	Autistic behavior
22907	DHX30	HP:0045074	Thin eyebrow
22907	DHX30	HP:0000957	Cafe-au-lait spot
22907	DHX30	HP:0000954	Single transverse palmar crease
22907	DHX30	HP:0000963	Thin skin
22907	DHX30	HP:0000286	Epicanthus
22907	DHX30	HP:0000274	Small face
22907	DHX30	HP:0000276	Long face
22907	DHX30	HP:0000252	Microcephaly
22907	DHX30	HP:0000218	High palate
22907	DHX30	HP:0000232	Everted lower lip vermilion
22907	DHX30	HP:0000358	Posteriorly rotated ears
22907	DHX30	HP:0000369	Low-set ears
22907	DHX30	HP:0000349	Widow's peak
22907	DHX30	HP:0000348	High forehead
22907	DHX30	HP:0000319	Smooth philtrum
22907	DHX30	HP:0000303	Mandibular prognathia
22907	DHX30	HP:0032988	Persistent head lag
22907	DHX30	HP:0000400	Macrotia
22907	DHX30	HP:0005280	Depressed nasal bridge
22907	DHX30	HP:0000486	Strabismus
22907	DHX30	HP:0000494	Downslanted palpebral fissures
22907	DHX30	HP:0001763	Pes planus
22909	FAN1	HP:0003774	Stage 5 chronic kidney disease
22909	FAN1	HP:0001123	Visual field defect
22909	FAN1	HP:0007256	Abnormal pyramidal sign
22909	FAN1	HP:0001276	Hypertonia
22909	FAN1	HP:0001288	Gait disturbance
22909	FAN1	HP:0100835	Benign neoplasm of the central nervous system
22909	FAN1	HP:0001250	Seizure
22909	FAN1	HP:0001252	Hypotonia
22909	FAN1	HP:0001260	Dysarthria
22909	FAN1	HP:0002516	Increased intracranial pressure
22909	FAN1	HP:0000090	Nephronophthisis
22909	FAN1	HP:0000093	Proteinuria
22909	FAN1	HP:0001371	Flexion contracture
22909	FAN1	HP:0002671	Basal cell carcinoma
22909	FAN1	HP:0000007	Autosomal recessive inheritance
22909	FAN1	HP:0012174	Glioblastoma multiforme
22909	FAN1	HP:0001402	Hepatocellular carcinoma
22909	FAN1	HP:0002024	Malabsorption
22909	FAN1	HP:0002019	Constipation
22909	FAN1	HP:0002017	Nausea and vomiting
22909	FAN1	HP:0002027	Abdominal pain
22909	FAN1	HP:0002076	Migraine
22909	FAN1	HP:0100571	Cardiac diverticulum
22909	FAN1	HP:0100576	Amaurosis fugax
22909	FAN1	HP:0002167	Abnormality of speech or vocalization
22909	FAN1	HP:0010526	Dysgraphia
22909	FAN1	HP:0010524	Agnosia
22909	FAN1	HP:0003401	Paresthesia
22909	FAN1	HP:0002239	Gastrointestinal hemorrhage
22909	FAN1	HP:0100743	Neoplasm of the rectum
22909	FAN1	HP:0007018	Attention deficit hyperactivity disorder
22909	FAN1	HP:0010622	Neoplasm of the skeletal system
22909	FAN1	HP:0002376	Developmental regression
22909	FAN1	HP:0003676	Progressive
22909	FAN1	HP:0002354	Memory impairment
22909	FAN1	HP:0100660	Dyskinesia
22909	FAN1	HP:0200008	Intestinal polyposis
22909	FAN1	HP:0100615	Ovarian neoplasm
22909	FAN1	HP:0100613	Death in early adulthood
22909	FAN1	HP:0010786	Urinary tract neoplasm
22909	FAN1	HP:0001970	Tubulointerstitial nephritis
22909	FAN1	HP:0003003	Colon cancer
22909	FAN1	HP:0003076	Glycosuria
22909	FAN1	HP:0004374	Hemiplegia/hemiparesis
22909	FAN1	HP:0003006	Neuroblastoma
22909	FAN1	HP:0100031	Neoplasm of the thyroid gland
22909	FAN1	HP:0000738	Hallucinations
22909	FAN1	HP:0000737	Irritability
22909	FAN1	HP:0000739	Anxiety
22909	FAN1	HP:0000716	Depression
22909	FAN1	HP:0000708	Atypical behavior
22909	FAN1	HP:0000790	Hematuria
22909	FAN1	HP:0003138	Increased blood urea nitrogen
22909	FAN1	HP:0003259	Elevated circulating creatinine concentration
22909	FAN1	HP:0002894	Neoplasm of the pancreas
22909	FAN1	HP:0002893	Pituitary adenoma
22909	FAN1	HP:0001522	Death in infancy
22909	FAN1	HP:0012378	Fatigue
22909	FAN1	HP:0002910	Elevated hepatic transaminase
22909	FAN1	HP:0032948	Renal interstitial fibrosis
22909	FAN1	HP:0006725	Pancreatic adenocarcinoma
22909	FAN1	HP:0001824	Weight loss
22909	FAN1	HP:0000505	Visual impairment
22909	FAN1	HP:0041050	Renal tubular cyst
22917	ZP1	HP:0000007	Autosomal recessive inheritance
22917	ZP1	HP:0008222	Female infertility
22917	ZP1	HP:0011462	Young adult onset
22926	ATF6	HP:0001103	Abnormal macular morphology
22926	ATF6	HP:0007401	Macular atrophy
22926	ATF6	HP:0012043	Pendular nystagmus
22926	ATF6	HP:0000007	Autosomal recessive inheritance
22926	ATF6	HP:0007663	Reduced visual acuity
22926	ATF6	HP:0000639	Nystagmus
22926	ATF6	HP:0000613	Photophobia
22926	ATF6	HP:0000603	Central scotoma
22926	ATF6	HP:0030465	Undetectable light-adapted electroretinogram
22926	ATF6	HP:0000662	Nyctalopia
22926	ATF6	HP:0030620	Inner retinal layer loss on macular OCT
22926	ATF6	HP:0030584	Color vision test abnormality
22926	ATF6	HP:0011516	Achromatopsia
22926	ATF6	HP:0030825	Absent foveal reflex
22926	ATF6	HP:0007722	Retinal pigment epithelial atrophy
22926	ATF6	HP:0007703	Abnormality of retinal pigmentation
22926	ATF6	HP:0025549	Eccentric visual fixation
22926	ATF6	HP:0007750	Hypoplasia of the fovea
22926	ATF6	HP:0007695	Abnormal pupillary light reflex
22926	ATF6	HP:0007843	Attenuation of retinal blood vessels
22926	ATF6	HP:0007814	Retinal pigment epithelial mottling
22926	ATF6	HP:0007803	Monochromacy
22926	ATF6	HP:0000505	Visual impairment
22926	ATF6	HP:0000540	Hypermetropia
22926	ATF6	HP:0000539	Abnormality of refraction
22926	ATF6	HP:0000551	Color vision defect
22926	ATF6	HP:0000545	Myopia
22930	RAB3GAP1	HP:0001155	Abnormality of the hand
22930	RAB3GAP1	HP:0100952	Enlarged sylvian cistern
22930	RAB3GAP1	HP:0010864	Intellectual disability, severe
22930	RAB3GAP1	HP:0001274	Agenesis of corpus callosum
22930	RAB3GAP1	HP:0001250	Seizure
22930	RAB3GAP1	HP:0001252	Hypotonia
22930	RAB3GAP1	HP:0001249	Intellectual disability
22930	RAB3GAP1	HP:0001264	Spastic diplegia
22930	RAB3GAP1	HP:0001263	Global developmental delay
22930	RAB3GAP1	HP:0001257	Spasticity
22930	RAB3GAP1	HP:0008736	Hypoplasia of penis
22930	RAB3GAP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
22930	RAB3GAP1	HP:0000064	Hypoplastic labia minora
22930	RAB3GAP1	HP:0000060	Clitoral hypoplasia
22930	RAB3GAP1	HP:0000044	Hypogonadotropic hypogonadism
22930	RAB3GAP1	HP:0001387	Joint stiffness
22930	RAB3GAP1	HP:0001382	Joint hypermobility
22930	RAB3GAP1	HP:0001347	Hyperreflexia
22930	RAB3GAP1	HP:0000028	Cryptorchidism
22930	RAB3GAP1	HP:0008872	Feeding difficulties in infancy
22930	RAB3GAP1	HP:0007495	Prematurely aged appearance
22930	RAB3GAP1	HP:0007477	Abnormal dermatoglyphics
22930	RAB3GAP1	HP:0001339	Lissencephaly
22930	RAB3GAP1	HP:0000007	Autosomal recessive inheritance
22930	RAB3GAP1	HP:0001302	Pachygyria
22930	RAB3GAP1	HP:0001320	Cerebellar vermis hypoplasia
22930	RAB3GAP1	HP:0002650	Scoliosis
22930	RAB3GAP1	HP:0001321	Cerebellar hypoplasia
22930	RAB3GAP1	HP:0001317	Abnormal cerebellum morphology
22930	RAB3GAP1	HP:0000160	Narrow mouth
22930	RAB3GAP1	HP:0000126	Hydronephrosis
22930	RAB3GAP1	HP:0002751	Kyphoscoliosis
22930	RAB3GAP1	HP:0003307	Hyperlordosis
22930	RAB3GAP1	HP:0011800	Midface retrusion
22930	RAB3GAP1	HP:0100542	Abnormal localization of kidney
22930	RAB3GAP1	HP:0002079	Hypoplasia of the corpus callosum
22930	RAB3GAP1	HP:0002059	Cerebral atrophy
22930	RAB3GAP1	HP:0009465	Ulnar deviation of finger
22930	RAB3GAP1	HP:0002120	Cerebral cortical atrophy
22930	RAB3GAP1	HP:0002188	Delayed CNS myelination
22930	RAB3GAP1	HP:0002162	Low posterior hairline
22930	RAB3GAP1	HP:0100490	Camptodactyly of finger
22930	RAB3GAP1	HP:0003577	Congenital onset
22930	RAB3GAP1	HP:0100704	Cerebral visual impairment
22930	RAB3GAP1	HP:0002219	Facial hypertrichosis
22930	RAB3GAP1	HP:0002230	Generalized hirsutism
22930	RAB3GAP1	HP:0009738	Abnormal antihelix morphology
22930	RAB3GAP1	HP:0008388	Abnormal toenail morphology
22930	RAB3GAP1	HP:0009830	Peripheral neuropathy
22930	RAB3GAP1	HP:0009832	Abnormal distal phalanx morphology of finger
22930	RAB3GAP1	HP:0000649	Abnormality of visual evoked potentials
22930	RAB3GAP1	HP:0000648	Optic atrophy
22930	RAB3GAP1	HP:0000601	Hypotelorism
22930	RAB3GAP1	HP:0000692	Tooth malposition
22930	RAB3GAP1	HP:0012650	Perisylvian polymicrogyria
22930	RAB3GAP1	HP:0004325	Decreased body weight
22930	RAB3GAP1	HP:0004322	Short stature
22930	RAB3GAP1	HP:0006956	Lateral ventricle dilatation
22930	RAB3GAP1	HP:0031936	Delayed ability to walk
22930	RAB3GAP1	HP:0003196	Short nose
22930	RAB3GAP1	HP:0000823	Delayed puberty
22930	RAB3GAP1	HP:0003241	External genital hypoplasia
22930	RAB3GAP1	HP:0000998	Hypertrichosis
22930	RAB3GAP1	HP:0000939	Osteoporosis
22930	RAB3GAP1	HP:0007703	Abnormality of retinal pigmentation
22930	RAB3GAP1	HP:0000272	Malar flattening
22930	RAB3GAP1	HP:0002808	Kyphosis
22930	RAB3GAP1	HP:0000252	Microcephaly
22930	RAB3GAP1	HP:0000248	Brachycephaly
22930	RAB3GAP1	HP:0000221	Furrowed tongue
22930	RAB3GAP1	HP:0000218	High palate
22930	RAB3GAP1	HP:0000233	Thin vermilion border
22930	RAB3GAP1	HP:0000232	Everted lower lip vermilion
22930	RAB3GAP1	HP:0001508	Failure to thrive
22930	RAB3GAP1	HP:0001511	Intrauterine growth retardation
22930	RAB3GAP1	HP:0012385	Camptodactyly
22930	RAB3GAP1	HP:0000369	Low-set ears
22930	RAB3GAP1	HP:0000368	Low-set, posteriorly rotated ears
22930	RAB3GAP1	HP:0000341	Narrow forehead
22930	RAB3GAP1	HP:0000347	Micrognathia
22930	RAB3GAP1	HP:0000322	Short philtrum
22930	RAB3GAP1	HP:0000400	Macrotia
22930	RAB3GAP1	HP:0005280	Depressed nasal bridge
22930	RAB3GAP1	HP:0000480	Retinal coloboma
22930	RAB3GAP1	HP:0000482	Microcornea
22930	RAB3GAP1	HP:0000490	Deeply set eye
22930	RAB3GAP1	HP:0000463	Anteverted nares
22930	RAB3GAP1	HP:0012444	Brain atrophy
22930	RAB3GAP1	HP:0000455	Broad nasal tip
22930	RAB3GAP1	HP:0000431	Wide nasal bridge
22930	RAB3GAP1	HP:0000518	Cataract
22930	RAB3GAP1	HP:0000519	Developmental cataract
22930	RAB3GAP1	HP:0001845	Overlapping toe
22930	RAB3GAP1	HP:0000508	Ptosis
22930	RAB3GAP1	HP:0000568	Microphthalmia
22931	RAB18	HP:0002476	Primitive reflex
22931	RAB18	HP:0010864	Intellectual disability, severe
22931	RAB18	HP:0001250	Seizure
22931	RAB18	HP:0001252	Hypotonia
22931	RAB18	HP:0001263	Global developmental delay
22931	RAB18	HP:0001257	Spasticity
22931	RAB18	HP:0008734	Decreased testicular size
22931	RAB18	HP:0008736	Hypoplasia of penis
22931	RAB18	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
22931	RAB18	HP:0002540	Inability to walk
22931	RAB18	HP:0002510	Spastic tetraplegia
22931	RAB18	HP:0000064	Hypoplastic labia minora
22931	RAB18	HP:0000060	Clitoral hypoplasia
22931	RAB18	HP:0000046	Small scrotum
22931	RAB18	HP:0001371	Flexion contracture
22931	RAB18	HP:0000054	Micropenis
22931	RAB18	HP:0001387	Joint stiffness
22931	RAB18	HP:0000028	Cryptorchidism
22931	RAB18	HP:0008897	Postnatal growth retardation
22931	RAB18	HP:0001344	Absent speech
22931	RAB18	HP:0001339	Lissencephaly
22931	RAB18	HP:0000007	Autosomal recessive inheritance
22931	RAB18	HP:0001302	Pachygyria
22931	RAB18	HP:0001320	Cerebellar vermis hypoplasia
22931	RAB18	HP:0002650	Scoliosis
22931	RAB18	HP:0001317	Abnormal cerebellum morphology
22931	RAB18	HP:0000189	Narrow palate
22931	RAB18	HP:0008936	Axial hypotonia
22931	RAB18	HP:0000126	Hydronephrosis
22931	RAB18	HP:0002751	Kyphoscoliosis
22931	RAB18	HP:0002714	Downturned corners of mouth
22931	RAB18	HP:0100542	Abnormal localization of kidney
22931	RAB18	HP:0002069	Bilateral tonic-clonic seizure
22931	RAB18	HP:0002061	Lower limb spasticity
22931	RAB18	HP:0002079	Hypoplasia of the corpus callosum
22931	RAB18	HP:0002120	Cerebral cortical atrophy
22931	RAB18	HP:0002119	Ventriculomegaly
22931	RAB18	HP:0002126	Polymicrogyria
22931	RAB18	HP:0002187	Intellectual disability, profound
22931	RAB18	HP:0003577	Congenital onset
22931	RAB18	HP:0100704	Cerebral visual impairment
22931	RAB18	HP:0002230	Generalized hirsutism
22931	RAB18	HP:0002280	Enlarged cisterna magna
22931	RAB18	HP:0009830	Peripheral neuropathy
22931	RAB18	HP:0004209	Clinodactyly of the 5th finger
22931	RAB18	HP:0000639	Nystagmus
22931	RAB18	HP:0000649	Abnormality of visual evoked potentials
22931	RAB18	HP:0000648	Optic atrophy
22931	RAB18	HP:0000616	Miosis
22931	RAB18	HP:0004322	Short stature
22931	RAB18	HP:0011448	Ankle clonus
22931	RAB18	HP:0003199	Decreased muscle mass
22931	RAB18	HP:0003196	Short nose
22931	RAB18	HP:0000823	Delayed puberty
22931	RAB18	HP:0000998	Hypertrichosis
22931	RAB18	HP:0007703	Abnormality of retinal pigmentation
22931	RAB18	HP:0000294	Low anterior hairline
22931	RAB18	HP:0002808	Kyphosis
22931	RAB18	HP:0000252	Microcephaly
22931	RAB18	HP:0000248	Brachycephaly
22931	RAB18	HP:0000218	High palate
22931	RAB18	HP:0001511	Intrauterine growth retardation
22931	RAB18	HP:0000368	Low-set, posteriorly rotated ears
22931	RAB18	HP:0000347	Micrognathia
22931	RAB18	HP:0032794	Myoclonic seizure
22931	RAB18	HP:0000322	Short philtrum
22931	RAB18	HP:0006610	Wide intermamillary distance
22931	RAB18	HP:0000400	Macrotia
22931	RAB18	HP:0000480	Retinal coloboma
22931	RAB18	HP:0000482	Microcornea
22931	RAB18	HP:0000463	Anteverted nares
22931	RAB18	HP:0000431	Wide nasal bridge
22931	RAB18	HP:0005484	Secondary microcephaly
22931	RAB18	HP:0000518	Cataract
22931	RAB18	HP:0000519	Developmental cataract
22931	RAB18	HP:0000581	Blepharophimosis
22931	RAB18	HP:0000594	Shallow anterior chamber
22931	RAB18	HP:0000568	Microphthalmia
22934	RPIA	HP:0001271	Polyneuropathy
22934	RPIA	HP:0001250	Seizure
22934	RPIA	HP:0001251	Ataxia
22934	RPIA	HP:0001260	Dysarthria
22934	RPIA	HP:0001263	Global developmental delay
22934	RPIA	HP:0001257	Spasticity
22934	RPIA	HP:0000007	Autosomal recessive inheritance
22934	RPIA	HP:0410075	Increased level of xylitol in CSF
22934	RPIA	HP:0410073	Increased level of ribose in CSF
22934	RPIA	HP:0410074	Increased level of xylitol in urine
22934	RPIA	HP:0410071	Increased level of ribitol in CSF
22934	RPIA	HP:0410072	Increased level of ribose in urine
22934	RPIA	HP:0410070	Increased level of ribitol in urine
22934	RPIA	HP:0410059	Increased level of D-threitol in urine
22934	RPIA	HP:0410057	Increased level of D-threitol in plasma
22934	RPIA	HP:0410058	Increased level of D-threitol in CSF
22934	RPIA	HP:0410055	Decreased level of erythritol in urine
22934	RPIA	HP:0410056	Decreased CSF erythritol concentration
22934	RPIA	HP:0002352	Leukoencephalopathy
22934	RPIA	HP:0007141	Sensorimotor neuropathy
22934	RPIA	HP:0002311	Incoordination
22934	RPIA	HP:0000639	Nystagmus
22934	RPIA	HP:0000648	Optic atrophy
22934	RPIA	HP:0001939	Abnormality of metabolism/homeostasis
22934	RPIA	HP:0025550	Elevated circulating ribitol concentration
22943	DKK1	HP:0008615	Adult onset sensorineural hearing impairment
22943	DKK1	HP:0001293	Cranial nerve compression
22943	DKK1	HP:0025258	Stiff neck
22943	DKK1	HP:0001288	Gait disturbance
22943	DKK1	HP:0002516	Increased intracranial pressure
22943	DKK1	HP:0002512	Brain stem compression
22943	DKK1	HP:0012046	Areflexia of upper limbs
22943	DKK1	HP:0000020	Urinary incontinence
22943	DKK1	HP:0001324	Muscle weakness
22943	DKK1	HP:0002653	Bone pain
22943	DKK1	HP:0002650	Scoliosis
22943	DKK1	HP:0002757	Recurrent fractures
22943	DKK1	HP:0001437	Abnormality of the musculature of the lower limbs
22943	DKK1	HP:0002015	Dysphagia
22943	DKK1	HP:0003396	Syringomyelia
22943	DKK1	HP:0002066	Gait ataxia
22943	DKK1	HP:0002073	Progressive cerebellar ataxia
22943	DKK1	HP:0004608	Anteriorly placed odontoid process
22943	DKK1	HP:0004602	Cervical C2/C3 vertebral fusion
22943	DKK1	HP:0003474	Somatic sensory dysfunction
22943	DKK1	HP:0003487	Babinski sign
22943	DKK1	HP:0002196	Myelopathy
22943	DKK1	HP:0010558	Abnormality of the clivus
22943	DKK1	HP:0010536	Central sleep apnea
22943	DKK1	HP:0009591	Abnormality of the vestibulocochlear nerve
22943	DKK1	HP:0007099	Chiari type I malformation
22943	DKK1	HP:0007067	Distal peripheral sensory neuropathy
22943	DKK1	HP:0002395	Lower limb hyperreflexia
22943	DKK1	HP:0002321	Vertigo
22943	DKK1	HP:0002315	Headache
22943	DKK1	HP:0002331	Recurrent paroxysmal headache
22943	DKK1	HP:0010826	Abnormality of the twelfth cranial nerve
22943	DKK1	HP:0010825	Abnormality of the eleventh cranial nerve
22943	DKK1	HP:0006824	Cranial nerve paralysis
22943	DKK1	HP:0011389	Functional abnormality of the inner ear
22943	DKK1	HP:0000639	Nystagmus
22943	DKK1	HP:0000651	Diplopia
22943	DKK1	HP:0000613	Photophobia
22943	DKK1	HP:0005758	Basilar impression
22943	DKK1	HP:0040010	Small posterior fossa
22943	DKK1	HP:0030833	Neck pain
22943	DKK1	HP:0000939	Osteoporosis
22943	DKK1	HP:0002808	Kyphosis
22943	DKK1	HP:0012366	Basilar invagination
22943	DKK1	HP:0001605	Vocal cord paralysis
22943	DKK1	HP:0002949	Fused cervical vertebrae
22943	DKK1	HP:0030195	Fatigable weakness of swallowing muscles
22943	DKK1	HP:0000360	Tinnitus
22943	DKK1	HP:0002953	Vertebral compression fracture
22943	DKK1	HP:0012534	Dysesthesia
22947	DUX4L1	HP:0003307	Hyperlordosis
22947	DUX4L1	HP:0100540	Palpebral edema
22947	DUX4L1	HP:0003457	EMG abnormality
22947	DUX4L1	HP:0030680	Abnormality of cardiovascular system morphology
22947	DUX4L1	HP:0003236	Elevated circulating creatine kinase concentration
22947	DUX4L1	HP:0003202	Skeletal muscle atrophy
22947	DUX4L1	HP:0008046	Abnormal retinal vascular morphology
22947	DUX4L1	HP:0000298	Mask-like facies
22947	DUX4L1	HP:0000499	Abnormal eyelash morphology
22947	DUX4L1	HP:0000407	Sensorineural hearing impairment
22948	CCT5	HP:0007328	Impaired pain sensation
22948	CCT5	HP:0001288	Gait disturbance
22948	CCT5	HP:0001258	Spastic paraplegia
22948	CCT5	HP:0001257	Spasticity
22948	CCT5	HP:0001347	Hyperreflexia
22948	CCT5	HP:0006121	Acral ulceration
22948	CCT5	HP:0000007	Autosomal recessive inheritance
22948	CCT5	HP:0012153	Hypotriglyceridemia
22948	CCT5	HP:0002064	Spastic gait
22948	CCT5	HP:0002061	Lower limb spasticity
22948	CCT5	HP:0003390	Sensory axonal neuropathy
22948	CCT5	HP:0003477	Peripheral axonal neuropathy
22948	CCT5	HP:0002143	Abnormal spinal cord morphology
22948	CCT5	HP:0003487	Babinski sign
22948	CCT5	HP:0003431	Decreased motor nerve conduction velocity
22948	CCT5	HP:0003409	Distal sensory impairment of all modalities
22948	CCT5	HP:0002169	Clonus
22948	CCT5	HP:0007020	Progressive spastic paraplegia
22948	CCT5	HP:0007078	Decreased amplitude of sensory action potentials
22948	CCT5	HP:0003693	Distal amyotrophy
22948	CCT5	HP:0009830	Peripheral neuropathy
22948	CCT5	HP:0200042	Skin ulcer
22948	CCT5	HP:0006827	Atrophy of the spinal cord
22948	CCT5	HP:0034075	Decreased circulating apolipoprotein B concentration
22948	CCT5	HP:0011463	Childhood onset
22948	CCT5	HP:0002936	Distal sensory impairment
22948	CCT5	HP:0012332	Abnormal autonomic nervous system physiology
22948	CCT5	HP:0001760	Abnormal foot morphology
22948	CCT5	HP:0001886	Foot osteomyelitis
22953	P2RX2	HP:0000006	Autosomal dominant inheritance
22953	P2RX2	HP:0000365	Hearing impairment
22953	P2RX2	HP:0000360	Tinnitus
22953	P2RX2	HP:0000408	Progressive sensorineural hearing impairment
22954	TRIM32	HP:0001162	Postaxial hand polydactyly
22954	TRIM32	HP:0003749	Pelvic girdle muscle weakness
22954	TRIM32	HP:0003731	Quadriceps muscle weakness
22954	TRIM32	HP:0003724	Shoulder girdle muscle atrophy
22954	TRIM32	HP:0003722	Neck flexor weakness
22954	TRIM32	HP:0003738	Exercise-induced myalgia
22954	TRIM32	HP:0003707	Calf muscle pseudohypertrophy
22954	TRIM32	HP:0003701	Proximal muscle weakness
22954	TRIM32	HP:0001288	Gait disturbance
22954	TRIM32	HP:0001284	Areflexia
22954	TRIM32	HP:0001249	Intellectual disability
22954	TRIM32	HP:0001265	Hyporeflexia
22954	TRIM32	HP:0006101	Finger syndactyly
22954	TRIM32	HP:0008736	Hypoplasia of penis
22954	TRIM32	HP:0008724	Hypoplasia of the ovary
22954	TRIM32	HP:0002515	Waddling gait
22954	TRIM32	HP:0002505	Loss of ambulation
22954	TRIM32	HP:0000098	Tall stature
22954	TRIM32	HP:0001395	Hepatic fibrosis
22954	TRIM32	HP:0000077	Abnormality of the kidney
22954	TRIM32	HP:0000028	Cryptorchidism
22954	TRIM32	HP:0000007	Autosomal recessive inheritance
22954	TRIM32	HP:0000003	Multicystic kidney dysplasia
22954	TRIM32	HP:0000135	Hypogonadism
22954	TRIM32	HP:0008994	Proximal muscle weakness in lower limbs
22954	TRIM32	HP:0008988	Pelvic girdle muscle atrophy
22954	TRIM32	HP:0000100	Nephrotic syndrome
22954	TRIM32	HP:0003391	Gowers sign
22954	TRIM32	HP:0010442	Polydactyly
22954	TRIM32	HP:0003457	EMG abnormality
22954	TRIM32	HP:0003458	EMG: myopathic abnormalities
22954	TRIM32	HP:0002167	Abnormality of speech or vocalization
22954	TRIM32	HP:0003401	Paresthesia
22954	TRIM32	HP:0003577	Congenital onset
22954	TRIM32	HP:0003547	Shoulder girdle muscle weakness
22954	TRIM32	HP:0002230	Generalized hirsutism
22954	TRIM32	HP:0003560	Muscular dystrophy
22954	TRIM32	HP:0003557	Increased variability in muscle fiber diameter
22954	TRIM32	HP:0010628	Facial palsy
22954	TRIM32	HP:0003687	Centrally nucleated skeletal muscle fibers
22954	TRIM32	HP:0003677	Slowly progressive
22954	TRIM32	HP:0007126	Proximal amyotrophy
22954	TRIM32	HP:0010747	Medial flaring of the eyebrow
22954	TRIM32	HP:0000639	Nystagmus
22954	TRIM32	HP:0004322	Short stature
22954	TRIM32	HP:0011462	Young adult onset
22954	TRIM32	HP:0003198	Myopathy
22954	TRIM32	HP:0000822	Hypertension
22954	TRIM32	HP:0003236	Elevated circulating creatine kinase concentration
22954	TRIM32	HP:0003202	Skeletal muscle atrophy
22954	TRIM32	HP:0000298	Mask-like facies
22954	TRIM32	HP:0001513	Obesity
22954	TRIM32	HP:0000365	Hearing impairment
22954	TRIM32	HP:0000368	Low-set, posteriorly rotated ears
22954	TRIM32	HP:0000494	Downslanted palpebral fissures
22954	TRIM32	HP:0000488	Retinopathy
22954	TRIM32	HP:0000470	Short neck
22954	TRIM32	HP:0000426	Prominent nasal bridge
22954	TRIM32	HP:0000512	Abnormal electroretinogram
22954	TRIM32	HP:0000580	Pigmentary retinopathy
22978	NT5C2	HP:0001270	Motor delay
22978	NT5C2	HP:0001249	Intellectual disability
22978	NT5C2	HP:0001263	Global developmental delay
22978	NT5C2	HP:0001258	Spastic paraplegia
22978	NT5C2	HP:0012043	Pendular nystagmus
22978	NT5C2	HP:0001371	Flexion contracture
22978	NT5C2	HP:0001347	Hyperreflexia
22978	NT5C2	HP:0000007	Autosomal recessive inheritance
22978	NT5C2	HP:0002064	Spastic gait
22978	NT5C2	HP:0002061	Lower limb spasticity
22978	NT5C2	HP:0002079	Hypoplasia of the corpus callosum
22978	NT5C2	HP:0003487	Babinski sign
22978	NT5C2	HP:0003621	Juvenile onset
22978	NT5C2	HP:0000639	Nystagmus
22978	NT5C2	HP:0000648	Optic atrophy
22978	NT5C2	HP:0006989	Dysplastic corpus callosum
22978	NT5C2	HP:0011463	Childhood onset
22978	NT5C2	HP:0011462	Young adult onset
22978	NT5C2	HP:0003202	Skeletal muscle atrophy
22978	NT5C2	HP:0005830	Flexion contracture of toe
22978	NT5C2	HP:0006466	Ankle flexion contracture
22978	NT5C2	HP:0006380	Knee flexion contracture
22978	NT5C2	HP:0000486	Strabismus
22978	NT5C2	HP:0001762	Talipes equinovarus
22978	NT5C2	HP:0000545	Myopia
22983	MAST1	HP:0009879	Simplified gyral pattern
22983	MAST1	HP:0001290	Generalized hypotonia
22983	MAST1	HP:0001250	Seizure
22983	MAST1	HP:0001249	Intellectual disability
22983	MAST1	HP:0001263	Global developmental delay
22983	MAST1	HP:0002540	Inability to walk
22983	MAST1	HP:0001344	Absent speech
22983	MAST1	HP:0000006	Autosomal dominant inheritance
22983	MAST1	HP:0001320	Cerebellar vermis hypoplasia
22983	MAST1	HP:0001321	Cerebellar hypoplasia
22983	MAST1	HP:0002078	Truncal ataxia
22983	MAST1	HP:0002119	Ventriculomegaly
22983	MAST1	HP:0003593	Infantile onset
22983	MAST1	HP:0007074	Thick corpus callosum
22983	MAST1	HP:0002365	Hypoplasia of the brainstem
22983	MAST1	HP:0002317	Unsteady gait
22983	MAST1	HP:0007165	Periventricular heterotopia
22983	MAST1	HP:0000657	Oculomotor apraxia
22983	MAST1	HP:0004322	Short stature
22995	CEP152	HP:0010864	Intellectual disability, severe
22995	CEP152	HP:0009879	Simplified gyral pattern
22995	CEP152	HP:0001274	Agenesis of corpus callosum
22995	CEP152	HP:0001250	Seizure
22995	CEP152	HP:0001249	Intellectual disability
22995	CEP152	HP:0001263	Global developmental delay
22995	CEP152	HP:0007333	Hypoplasia of the frontal lobes
22995	CEP152	HP:0008665	Clitoral hypertrophy
22995	CEP152	HP:0002536	Abnormal cortical gyration
22995	CEP152	HP:0000076	Vesicoureteral reflux
22995	CEP152	HP:0001385	Hip dysplasia
22995	CEP152	HP:0000047	Hypospadias
22995	CEP152	HP:0001347	Hyperreflexia
22995	CEP152	HP:0001363	Craniosynostosis
22995	CEP152	HP:0000028	Cryptorchidism
22995	CEP152	HP:0007495	Prematurely aged appearance
22995	CEP152	HP:0000007	Autosomal recessive inheritance
22995	CEP152	HP:0001335	Bimanual synkinesia
22995	CEP152	HP:0001302	Pachygyria
22995	CEP152	HP:0002650	Scoliosis
22995	CEP152	HP:0000175	Cleft palate
22995	CEP152	HP:0006297	Enamel hypoplasia
22995	CEP152	HP:0000122	Unilateral renal agenesis
22995	CEP152	HP:0002750	Delayed skeletal maturation
22995	CEP152	HP:0100543	Cognitive impairment
22995	CEP152	HP:0002119	Ventriculomegaly
22995	CEP152	HP:0010579	Cone-shaped epiphysis
22995	CEP152	HP:0003577	Congenital onset
22995	CEP152	HP:0100710	Impulsivity
22995	CEP152	HP:0100716	Self-injurious behavior
22995	CEP152	HP:0002209	Sparse scalp hair
22995	CEP152	HP:0002282	Gray matter heterotopia
22995	CEP152	HP:0009804	Tooth agenesis
22995	CEP152	HP:0004209	Clinodactyly of the 5th finger
22995	CEP152	HP:0000682	Abnormal dental enamel morphology
22995	CEP152	HP:0011342	Mild global developmental delay
22995	CEP152	HP:0000677	Oligodontia
22995	CEP152	HP:0000668	Hypodontia
22995	CEP152	HP:0004322	Short stature
22995	CEP152	HP:0004326	Cachexia
22995	CEP152	HP:0005692	Joint hyperflexibility
22995	CEP152	HP:0100034	Motor tics
22995	CEP152	HP:0000718	Aggressive behavior
22995	CEP152	HP:0003103	Abnormal cortical bone morphology
22995	CEP152	HP:0000878	11 pairs of ribs
22995	CEP152	HP:0005819	Short middle phalanx of finger
22995	CEP152	HP:0000278	Retrognathia
22995	CEP152	HP:0001592	Selective tooth agenesis
22995	CEP152	HP:0000275	Narrow face
22995	CEP152	HP:0000252	Microcephaly
22995	CEP152	HP:0000219	Thin upper lip vermilion
22995	CEP152	HP:0000218	High palate
22995	CEP152	HP:0001511	Intrauterine growth retardation
22995	CEP152	HP:0001510	Growth delay
22995	CEP152	HP:0000387	Absent earlobe
22995	CEP152	HP:0000363	Abnormal earlobe morphology
22995	CEP152	HP:0000369	Low-set ears
22995	CEP152	HP:0000340	Sloping forehead
22995	CEP152	HP:0000347	Micrognathia
22995	CEP152	HP:0000324	Facial asymmetry
22995	CEP152	HP:0000486	Strabismus
22995	CEP152	HP:0000494	Downslanted palpebral fissures
22995	CEP152	HP:0001763	Pes planus
22995	CEP152	HP:0000444	Convex nasal ridge
22995	CEP152	HP:0000426	Prominent nasal bridge
22995	CEP152	HP:0001852	Sandal gap
22995	CEP152	HP:0000501	Glaucoma
22995	CEP152	HP:0000582	Upslanted palpebral fissure
22995	CEP152	HP:0000581	Blepharophimosis
22999	RIMS1	HP:0007401	Macular atrophy
22999	RIMS1	HP:0012045	Retinal flecks
22999	RIMS1	HP:0000006	Autosomal dominant inheritance
22999	RIMS1	HP:0000613	Photophobia
22999	RIMS1	HP:0000662	Nyctalopia
22999	RIMS1	HP:0011504	Bull's eye maculopathy
22999	RIMS1	HP:0007703	Abnormality of retinal pigmentation
22999	RIMS1	HP:0000505	Visual impairment
22999	RIMS1	HP:0000551	Color vision defect
22999	RIMS1	HP:0000548	Cone/cone-rod dystrophy
23001	WDFY3	HP:0001256	Intellectual disability, mild
23001	WDFY3	HP:0000006	Autosomal dominant inheritance
23001	WDFY3	HP:0002342	Intellectual disability, moderate
23001	WDFY3	HP:0000252	Microcephaly
23001	WDFY3	HP:0012443	Abnormality of brain morphology
23005	MAPKBP1	HP:0003774	Stage 5 chronic kidney disease
23005	MAPKBP1	HP:0000083	Renal insufficiency
23005	MAPKBP1	HP:0000090	Nephronophthisis
23005	MAPKBP1	HP:0000076	Vesicoureteral reflux
23005	MAPKBP1	HP:0000007	Autosomal recessive inheritance
23005	MAPKBP1	HP:0002650	Scoliosis
23005	MAPKBP1	HP:0000107	Renal cyst
23005	MAPKBP1	HP:0003676	Progressive
23005	MAPKBP1	HP:0003621	Juvenile onset
23005	MAPKBP1	HP:0011462	Young adult onset
23007	PLCH1	HP:0002465	Poor speech
23007	PLCH1	HP:0002451	Limb dystonia
23007	PLCH1	HP:0007301	Oromotor apraxia
23007	PLCH1	HP:0009932	Single naris
23007	PLCH1	HP:0009914	Cyclopia
23007	PLCH1	HP:0010883	Aortic valve atresia
23007	PLCH1	HP:0002416	Subependymal cysts
23007	PLCH1	HP:0002410	Aqueductal stenosis
23007	PLCH1	HP:0007291	Posterior fossa cyst
23007	PLCH1	HP:0001290	Generalized hypotonia
23007	PLCH1	HP:0001272	Cerebellar atrophy
23007	PLCH1	HP:0001274	Agenesis of corpus callosum
23007	PLCH1	HP:0001254	Lethargy
23007	PLCH1	HP:0001250	Seizure
23007	PLCH1	HP:0001249	Intellectual disability
23007	PLCH1	HP:0001263	Global developmental delay
23007	PLCH1	HP:0001257	Spasticity
23007	PLCH1	HP:0002540	Inability to walk
23007	PLCH1	HP:0032327	Interhemispheric cyst
23007	PLCH1	HP:0001371	Flexion contracture
23007	PLCH1	HP:0001360	Holoprosencephaly
23007	PLCH1	HP:0001331	Absent septum pellucidum
23007	PLCH1	HP:0001328	Specific learning disability
23007	PLCH1	HP:0001344	Absent speech
23007	PLCH1	HP:0001338	Partial agenesis of the corpus callosum
23007	PLCH1	HP:0000007	Autosomal recessive inheritance
23007	PLCH1	HP:0001305	Dandy-Walker malformation
23007	PLCH1	HP:0002650	Scoliosis
23007	PLCH1	HP:0000193	Bifid uvula
23007	PLCH1	HP:0000161	Median cleft lip
23007	PLCH1	HP:0000175	Cleft palate
23007	PLCH1	HP:0410030	Cleft lip
23007	PLCH1	HP:0006315	Solitary median maxillary central incisor
23007	PLCH1	HP:0008947	Infantile muscular hypotonia
23007	PLCH1	HP:0000119	Abnormality of the genitourinary system
23007	PLCH1	HP:0002793	Abnormal pattern of respiration
23007	PLCH1	HP:0002020	Gastroesophageal reflux
23007	PLCH1	HP:0002019	Constipation
23007	PLCH1	HP:0002033	Poor suck
23007	PLCH1	HP:0002015	Dysphagia
23007	PLCH1	HP:0002013	Vomiting
23007	PLCH1	HP:0040327	Abnormal morphology of the olfactory bulb
23007	PLCH1	HP:0002007	Frontal bossing
23007	PLCH1	HP:0005968	Temperature instability
23007	PLCH1	HP:0002069	Bilateral tonic-clonic seizure
23007	PLCH1	HP:0011787	Central hypothyroidism
23007	PLCH1	HP:0002119	Ventriculomegaly
23007	PLCH1	HP:0002270	Abnormality of the autonomic nervous system
23007	PLCH1	HP:0100704	Cerebral visual impairment
23007	PLCH1	HP:0002282	Gray matter heterotopia
23007	PLCH1	HP:0002280	Enlarged cisterna magna
23007	PLCH1	HP:0010654	Aplasia of the falx cerebri
23007	PLCH1	HP:0007018	Attention deficit hyperactivity disorder
23007	PLCH1	HP:0011968	Feeding difficulties
23007	PLCH1	HP:0011951	Aspiration pneumonia
23007	PLCH1	HP:0002363	Abnormal brainstem morphology
23007	PLCH1	HP:0002353	EEG abnormality
23007	PLCH1	HP:0007165	Periventricular heterotopia
23007	PLCH1	HP:0031860	Abnormal heart rate variability
23007	PLCH1	HP:0000601	Hypotelorism
23007	PLCH1	HP:0009062	Infantile axial hypotonia
23007	PLCH1	HP:0006988	Alobar holoprosencephaly
23007	PLCH1	HP:0004322	Short stature
23007	PLCH1	HP:0006979	Sleep-wake cycle disturbance
23007	PLCH1	HP:0000737	Irritability
23007	PLCH1	HP:0000739	Anxiety
23007	PLCH1	HP:0012718	Morphological abnormality of the gastrointestinal tract
23007	PLCH1	HP:0000741	Apathy
23007	PLCH1	HP:0000716	Depression
23007	PLCH1	HP:0000708	Atypical behavior
23007	PLCH1	HP:0011471	Gastrostomy tube feeding in infancy
23007	PLCH1	HP:0011461	Fetal onset
23007	PLCH1	HP:0011442	Abnormal central motor function
23007	PLCH1	HP:0000924	Abnormality of the skeletal system
23007	PLCH1	HP:0000873	Diabetes insipidus
23007	PLCH1	HP:0000871	Panhypopituitarism
23007	PLCH1	HP:0012806	Proboscis
23007	PLCH1	HP:0000818	Abnormality of the endocrine system
23007	PLCH1	HP:0000824	Decreased response to growth hormone stimulation test
23007	PLCH1	HP:0040064	Abnormality of limbs
23007	PLCH1	HP:0045005	Neural tube defect
23007	PLCH1	HP:0012285	Abnormal hypothalamus physiology
23007	PLCH1	HP:0000256	Macrocephaly
23007	PLCH1	HP:0002827	Hip dislocation
23007	PLCH1	HP:0000238	Hydrocephalus
23007	PLCH1	HP:0000252	Microcephaly
23007	PLCH1	HP:0000218	High palate
23007	PLCH1	HP:0002871	Central apnea
23007	PLCH1	HP:0001508	Failure to thrive
23007	PLCH1	HP:0001510	Growth delay
23007	PLCH1	HP:0006528	Chronic lung disease
23007	PLCH1	HP:0000369	Low-set ears
23007	PLCH1	HP:0001629	Ventricular septal defect
23007	PLCH1	HP:0001627	Abnormal heart morphology
23007	PLCH1	HP:0002951	Partial absence of cerebellar vermis
23007	PLCH1	HP:0000407	Sensorineural hearing impairment
23007	PLCH1	HP:0000400	Macrotia
23007	PLCH1	HP:0001719	Double outlet right ventricle
23007	PLCH1	HP:0000478	Abnormality of the eye
23007	PLCH1	HP:0000463	Anteverted nares
23007	PLCH1	HP:0000457	Depressed nasal ridge
23013	SPEN	HP:0001182	Tapered finger
23013	SPEN	HP:0001156	Brachydactyly
23013	SPEN	HP:0025116	Fetal distress
23013	SPEN	HP:0002465	Poor speech
23013	SPEN	HP:0001107	Ocular albinism
23013	SPEN	HP:0009890	High anterior hairline
23013	SPEN	HP:0008551	Microtia
23013	SPEN	HP:0001274	Agenesis of corpus callosum
23013	SPEN	HP:0001270	Motor delay
23013	SPEN	HP:0001288	Gait disturbance
23013	SPEN	HP:0001250	Seizure
23013	SPEN	HP:0001252	Hypotonia
23013	SPEN	HP:0001251	Ataxia
23013	SPEN	HP:0001249	Intellectual disability
23013	SPEN	HP:0002591	Polyphagia
23013	SPEN	HP:0001263	Global developmental delay
23013	SPEN	HP:0008736	Hypoplasia of penis
23013	SPEN	HP:0002553	Highly arched eyebrow
23013	SPEN	HP:0001397	Hepatic steatosis
23013	SPEN	HP:0001392	Abnormality of the liver
23013	SPEN	HP:0000077	Abnormality of the kidney
23013	SPEN	HP:0000055	Abnormality of female external genitalia
23013	SPEN	HP:0001385	Hip dysplasia
23013	SPEN	HP:0001387	Joint stiffness
23013	SPEN	HP:0000047	Hypospadias
23013	SPEN	HP:0000028	Cryptorchidism
23013	SPEN	HP:0008872	Feeding difficulties in infancy
23013	SPEN	HP:0001344	Absent speech
23013	SPEN	HP:0001337	Tremor
23013	SPEN	HP:0000006	Autosomal dominant inheritance
23013	SPEN	HP:0002650	Scoliosis
23013	SPEN	HP:0000160	Narrow mouth
23013	SPEN	HP:0000135	Hypogonadism
23013	SPEN	HP:0000154	Wide mouth
23013	SPEN	HP:0002705	High, narrow palate
23013	SPEN	HP:0000126	Hydronephrosis
23013	SPEN	HP:0000107	Renal cyst
23013	SPEN	HP:0002715	Abnormality of the immune system
23013	SPEN	HP:0002021	Pyloric stenosis
23013	SPEN	HP:0002020	Gastroesophageal reflux
23013	SPEN	HP:0002019	Constipation
23013	SPEN	HP:0002015	Dysphagia
23013	SPEN	HP:0002007	Frontal bossing
23013	SPEN	HP:0011800	Midface retrusion
23013	SPEN	HP:0100559	Lower limb asymmetry
23013	SPEN	HP:0002141	Gait imbalance
23013	SPEN	HP:0002120	Cerebral cortical atrophy
23013	SPEN	HP:0002119	Ventriculomegaly
23013	SPEN	HP:0003416	Spinal canal stenosis
23013	SPEN	HP:0002167	Abnormality of speech or vocalization
23013	SPEN	HP:0100490	Camptodactyly of finger
23013	SPEN	HP:0002242	Abnormal intestine morphology
23013	SPEN	HP:0100710	Impulsivity
23013	SPEN	HP:0100716	Self-injurious behavior
23013	SPEN	HP:0002230	Generalized hirsutism
23013	SPEN	HP:0009748	Large earlobe
23013	SPEN	HP:0002282	Gray matter heterotopia
23013	SPEN	HP:0007018	Attention deficit hyperactivity disorder
23013	SPEN	HP:0001065	Striae distensae
23013	SPEN	HP:0001028	Hemangioma
23013	SPEN	HP:0001009	Telangiectasia
23013	SPEN	HP:0001007	Hirsutism
23013	SPEN	HP:0002353	EEG abnormality
23013	SPEN	HP:0008499	High hypermetropia
23013	SPEN	HP:0002307	Drooling
23013	SPEN	HP:0004209	Clinodactyly of the 5th finger
23013	SPEN	HP:0006824	Cranial nerve paralysis
23013	SPEN	HP:0000639	Nystagmus
23013	SPEN	HP:0000637	Long palpebral fissure
23013	SPEN	HP:0000648	Optic atrophy
23013	SPEN	HP:0000629	Periorbital fullness
23013	SPEN	HP:0000678	Dental crowding
23013	SPEN	HP:0000664	Synophrys
23013	SPEN	HP:0004322	Short stature
23013	SPEN	HP:0030680	Abnormality of cardiovascular system morphology
23013	SPEN	HP:0004378	Abnormality of the anus
23013	SPEN	HP:0004374	Hemiplegia/hemiparesis
23013	SPEN	HP:0003006	Neuroblastoma
23013	SPEN	HP:0012733	Macule
23013	SPEN	HP:0000733	Abnormal repetitive mannerisms
23013	SPEN	HP:0000750	Delayed speech and language development
23013	SPEN	HP:0000718	Aggressive behavior
23013	SPEN	HP:0000717	Autism
23013	SPEN	HP:0000729	Autistic behavior
23013	SPEN	HP:0000708	Atypical behavior
23013	SPEN	HP:0003198	Myopathy
23013	SPEN	HP:0000902	Rib fusion
23013	SPEN	HP:0000878	11 pairs of ribs
23013	SPEN	HP:0000892	Bifid ribs
23013	SPEN	HP:0000826	Precocious puberty
23013	SPEN	HP:0000821	Hypothyroidism
23013	SPEN	HP:0004523	Long eyebrows
23013	SPEN	HP:0000958	Dry skin
23013	SPEN	HP:0045025	Narrow palpebral fissure
23013	SPEN	HP:0008066	Abnormal blistering of the skin
23013	SPEN	HP:0000286	Epicanthus
23013	SPEN	HP:0000280	Coarse facial features
23013	SPEN	HP:0000278	Retrognathia
23013	SPEN	HP:0000294	Low anterior hairline
23013	SPEN	HP:0000276	Long face
23013	SPEN	HP:0000270	Delayed cranial suture closure
23013	SPEN	HP:0005113	Aortic arch aneurysm
23013	SPEN	HP:0002808	Kyphosis
23013	SPEN	HP:0000252	Microcephaly
23013	SPEN	HP:0000248	Brachycephaly
23013	SPEN	HP:0000219	Thin upper lip vermilion
23013	SPEN	HP:0000218	High palate
23013	SPEN	HP:0001508	Failure to thrive
23013	SPEN	HP:0001513	Obesity
23013	SPEN	HP:0000365	Hearing impairment
23013	SPEN	HP:0000369	Low-set ears
23013	SPEN	HP:0000368	Low-set, posteriorly rotated ears
23013	SPEN	HP:0000341	Narrow forehead
23013	SPEN	HP:0001671	Abnormal cardiac septum morphology
23013	SPEN	HP:0000343	Long philtrum
23013	SPEN	HP:0000347	Micrognathia
23013	SPEN	HP:0000316	Hypertelorism
23013	SPEN	HP:0001643	Patent ductus arteriosus
23013	SPEN	HP:0001644	Dilated cardiomyopathy
23013	SPEN	HP:0001654	Abnormal heart valve morphology
23013	SPEN	HP:0000322	Short philtrum
23013	SPEN	HP:0001629	Ventricular septal defect
23013	SPEN	HP:0001636	Tetralogy of Fallot
23013	SPEN	HP:0000307	Pointed chin
23013	SPEN	HP:0000300	Oval face
23013	SPEN	HP:0000407	Sensorineural hearing impairment
23013	SPEN	HP:0001734	Annular pancreas
23013	SPEN	HP:0000405	Conductive hearing impairment
23013	SPEN	HP:0005274	Prominent nasal tip
23013	SPEN	HP:0005280	Depressed nasal bridge
23013	SPEN	HP:0000486	Strabismus
23013	SPEN	HP:0012471	Thick vermilion border
23013	SPEN	HP:0000494	Downslanted palpebral fissures
23013	SPEN	HP:0000490	Deeply set eye
23013	SPEN	HP:0001792	Small nail
23013	SPEN	HP:0000464	Abnormality of the neck
23013	SPEN	HP:0000463	Anteverted nares
23013	SPEN	HP:0000457	Depressed nasal ridge
23013	SPEN	HP:0001773	Short foot
23013	SPEN	HP:0001763	Pes planus
23013	SPEN	HP:0000414	Bulbous nose
23013	SPEN	HP:0001743	Abnormality of the spleen
23013	SPEN	HP:0000431	Wide nasal bridge
23013	SPEN	HP:0001761	Pes cavus
23013	SPEN	HP:0000426	Prominent nasal bridge
23013	SPEN	HP:0000518	Cataract
23013	SPEN	HP:0000527	Long eyelashes
23013	SPEN	HP:0001829	Foot polydactyly
23013	SPEN	HP:0000505	Visual impairment
23013	SPEN	HP:0000504	Abnormality of vision
23013	SPEN	HP:0000582	Upslanted palpebral fissure
23013	SPEN	HP:0011228	Horizontal eyebrow
23013	SPEN	HP:0000574	Thick eyebrow
23013	SPEN	HP:0000534	Abnormal eyebrow morphology
23019	CNOT1	HP:0001182	Tapered finger
23019	CNOT1	HP:0010938	Abnormal external nose morphology
23019	CNOT1	HP:0008551	Microtia
23019	CNOT1	HP:0001290	Generalized hypotonia
23019	CNOT1	HP:0100801	Pancreatic aplasia
23019	CNOT1	HP:0001274	Agenesis of corpus callosum
23019	CNOT1	HP:0001270	Motor delay
23019	CNOT1	HP:0001250	Seizure
23019	CNOT1	HP:0001249	Intellectual disability
23019	CNOT1	HP:0001260	Dysarthria
23019	CNOT1	HP:0001263	Global developmental delay
23019	CNOT1	HP:0001257	Spasticity
23019	CNOT1	HP:0001234	Hitchhiker thumb
23019	CNOT1	HP:0410289	Hypoamylasemia
23019	CNOT1	HP:0002507	Semilobar holoprosencephaly
23019	CNOT1	HP:0003811	Neonatal death
23019	CNOT1	HP:0000098	Tall stature
23019	CNOT1	HP:0001360	Holoprosencephaly
23019	CNOT1	HP:0001331	Absent septum pellucidum
23019	CNOT1	HP:0001324	Muscle weakness
23019	CNOT1	HP:0000006	Autosomal dominant inheritance
23019	CNOT1	HP:0006315	Solitary median maxillary central incisor
23019	CNOT1	HP:0031209	Decreased circulating lipoprotein lipase concentration
23019	CNOT1	HP:0002079	Hypoplasia of the corpus callosum
23019	CNOT1	HP:0030948	Elevated gamma-glutamyltransferase level
23019	CNOT1	HP:0003577	Congenital onset
23019	CNOT1	HP:0010669	Hypoplasia of the zygomatic bone
23019	CNOT1	HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb
23019	CNOT1	HP:0002384	Focal impaired awareness seizure
23019	CNOT1	HP:0002360	Sleep disturbance
23019	CNOT1	HP:0100651	Type I diabetes mellitus
23019	CNOT1	HP:0003623	Neonatal onset
23019	CNOT1	HP:0006870	Lobar holoprosencephaly
23019	CNOT1	HP:0000601	Hypotelorism
23019	CNOT1	HP:0001999	Abnormal facial shape
23019	CNOT1	HP:0004325	Decreased body weight
23019	CNOT1	HP:0004322	Short stature
23019	CNOT1	HP:0031964	Elevated circulating alanine aminotransferase concentration
23019	CNOT1	HP:0000750	Delayed speech and language development
23019	CNOT1	HP:0011467	Absent gallbladder
23019	CNOT1	HP:0030795	Reduced C-peptide level
23019	CNOT1	HP:0000873	Diabetes insipidus
23019	CNOT1	HP:0000857	Neonatal insulin-dependent diabetes mellitus
23019	CNOT1	HP:0040195	Decreased head circumference
23019	CNOT1	HP:0000286	Epicanthus
23019	CNOT1	HP:0000269	Prominent occiput
23019	CNOT1	HP:0000252	Microcephaly
23019	CNOT1	HP:0000218	High palate
23019	CNOT1	HP:0001518	Small for gestational age
23019	CNOT1	HP:0001511	Intrauterine growth retardation
23019	CNOT1	HP:0001510	Growth delay
23019	CNOT1	HP:0000377	Abnormal pinna morphology
23019	CNOT1	HP:0000369	Low-set ears
23019	CNOT1	HP:0000340	Sloping forehead
23019	CNOT1	HP:0000343	Long philtrum
23019	CNOT1	HP:0001622	Premature birth
23019	CNOT1	HP:0001738	Exocrine pancreatic insufficiency
23019	CNOT1	HP:0000407	Sensorineural hearing impairment
23019	CNOT1	HP:0000405	Conductive hearing impairment
23019	CNOT1	HP:0005280	Depressed nasal bridge
23019	CNOT1	HP:0012443	Abnormality of brain morphology
23019	CNOT1	HP:0012418	Hypoxemia
23020	SNRNP200	HP:0001249	Intellectual disability
23020	SNRNP200	HP:0008736	Hypoplasia of penis
23020	SNRNP200	HP:0001347	Hyperreflexia
23020	SNRNP200	HP:0000035	Abnormal testis morphology
23020	SNRNP200	HP:0000006	Autosomal dominant inheritance
23020	SNRNP200	HP:0000135	Hypogonadism
23020	SNRNP200	HP:0007675	Progressive night blindness
23020	SNRNP200	HP:0005978	Type II diabetes mellitus
23020	SNRNP200	HP:0000639	Nystagmus
23020	SNRNP200	HP:0000648	Optic atrophy
23020	SNRNP200	HP:0000618	Blindness
23020	SNRNP200	HP:0000613	Photophobia
23020	SNRNP200	HP:0000602	Ophthalmoplegia
23020	SNRNP200	HP:0000662	Nyctalopia
23020	SNRNP200	HP:0000842	Hyperinsulinemia
23020	SNRNP200	HP:0000987	Atypical scarring of skin
23020	SNRNP200	HP:0008046	Abnormal retinal vascular morphology
23020	SNRNP200	HP:0007722	Retinal pigment epithelial atrophy
23020	SNRNP200	HP:0007703	Abnormality of retinal pigmentation
23020	SNRNP200	HP:0007737	Bone spicule pigmentation of the retina
23020	SNRNP200	HP:0001513	Obesity
23020	SNRNP200	HP:0007843	Attenuation of retinal blood vessels
23020	SNRNP200	HP:0000407	Sensorineural hearing impairment
23020	SNRNP200	HP:0000405	Conductive hearing impairment
23020	SNRNP200	HP:0000463	Anteverted nares
23020	SNRNP200	HP:0000431	Wide nasal bridge
23020	SNRNP200	HP:0000518	Cataract
23020	SNRNP200	HP:0000510	Rod-cone dystrophy
23020	SNRNP200	HP:0000512	Abnormal electroretinogram
23020	SNRNP200	HP:0000505	Visual impairment
23020	SNRNP200	HP:0000501	Glaucoma
23020	SNRNP200	HP:0000563	Keratoconus
23020	SNRNP200	HP:0000543	Optic disc pallor
23022	PALLD	HP:0025318	Ovarian carcinoma
23022	PALLD	HP:0000006	Autosomal dominant inheritance
23022	PALLD	HP:0001433	Hepatosplenomegaly
23022	PALLD	HP:0002716	Lymphadenopathy
23022	PALLD	HP:0002017	Nausea and vomiting
23022	PALLD	HP:0002027	Abdominal pain
23022	PALLD	HP:0002039	Anorexia
23022	PALLD	HP:0100592	Peritoneal abscess
23022	PALLD	HP:0003418	Back pain
23022	PALLD	HP:0002254	Intermittent diarrhea
23022	PALLD	HP:0003002	Breast carcinoma
23022	PALLD	HP:0003003	Colon cancer
23022	PALLD	HP:0004389	Intestinal pseudo-obstruction
23022	PALLD	HP:0004396	Poor appetite
23022	PALLD	HP:0000819	Diabetes mellitus
23022	PALLD	HP:0000952	Jaundice
23022	PALLD	HP:0002896	Neoplasm of the liver
23022	PALLD	HP:0002861	Melanoma
23022	PALLD	HP:0005249	Functional intestinal obstruction
23022	PALLD	HP:0002910	Elevated hepatic transaminase
23022	PALLD	HP:0012334	Extrahepatic cholestasis
23022	PALLD	HP:0001738	Exocrine pancreatic insufficiency
23022	PALLD	HP:0012432	Chronic fatigue
23022	PALLD	HP:0006725	Pancreatic adenocarcinoma
23022	PALLD	HP:0001824	Weight loss
23025	UNC13A	HP:0001257	Spasticity
23025	UNC13A	HP:0007373	Motor neuron atrophy
23025	UNC13A	HP:0007354	Amyotrophic lateral sclerosis
23025	UNC13A	HP:0025425	Laryngospasm
23025	UNC13A	HP:0002795	Abnormal respiratory system physiology
23025	UNC13A	HP:0002017	Nausea and vomiting
23025	UNC13A	HP:0003324	Generalized muscle weakness
23025	UNC13A	HP:0002094	Dyspnea
23025	UNC13A	HP:0003394	Muscle spasm
23025	UNC13A	HP:0003470	Paralysis
23025	UNC13A	HP:0002180	Neurodegeneration
23025	UNC13A	HP:0000739	Anxiety
23025	UNC13A	HP:0000716	Depression
23025	UNC13A	HP:0000712	Emotional lability
23025	UNC13A	HP:0000713	Agitation
23025	UNC13A	HP:0003202	Skeletal muscle atrophy
23025	UNC13A	HP:0000217	Xerostomia
23025	UNC13A	HP:0002878	Respiratory failure
23025	UNC13A	HP:0012378	Fatigue
23025	UNC13A	HP:0030196	Fatigable weakness of respiratory muscles
23025	UNC13A	HP:0030195	Fatigable weakness of swallowing muscles
23025	UNC13A	HP:0030192	Fatigable weakness of bulbar muscles
23025	UNC13A	HP:0012531	Pain
23028	KDM1A	HP:0001182	Tapered finger
23028	KDM1A	HP:0001156	Brachydactyly
23028	KDM1A	HP:0009890	High anterior hairline
23028	KDM1A	HP:0001290	Generalized hypotonia
23028	KDM1A	HP:0001270	Motor delay
23028	KDM1A	HP:0001252	Hypotonia
23028	KDM1A	HP:0001263	Global developmental delay
23028	KDM1A	HP:0002558	Supernumerary nipple
23028	KDM1A	HP:0002553	Highly arched eyebrow
23028	KDM1A	HP:0000041	Chordee
23028	KDM1A	HP:0001382	Joint hypermobility
23028	KDM1A	HP:0000047	Hypospadias
23028	KDM1A	HP:0000028	Cryptorchidism
23028	KDM1A	HP:0012081	Enlarged cerebellum
23028	KDM1A	HP:0000006	Autosomal dominant inheritance
23028	KDM1A	HP:0001488	Bilateral ptosis
23028	KDM1A	HP:0000174	Abnormal palate morphology
23028	KDM1A	HP:0002714	Downturned corners of mouth
23028	KDM1A	HP:0002019	Constipation
23028	KDM1A	HP:0002007	Frontal bossing
23028	KDM1A	HP:0003396	Syringomyelia
23028	KDM1A	HP:0002079	Hypoplasia of the corpus callosum
23028	KDM1A	HP:0002144	Tethered cord
23028	KDM1A	HP:0003468	Abnormal vertebral morphology
23028	KDM1A	HP:0002188	Delayed CNS myelination
23028	KDM1A	HP:0002169	Clonus
23028	KDM1A	HP:0011832	Narrow nasal tip
23028	KDM1A	HP:0002209	Sparse scalp hair
23028	KDM1A	HP:0011968	Feeding difficulties
23028	KDM1A	HP:0009778	Short thumb
23028	KDM1A	HP:0004209	Clinodactyly of the 5th finger
23028	KDM1A	HP:0006895	Lower limb hypertonia
23028	KDM1A	HP:0000687	Widely spaced teeth
23028	KDM1A	HP:0000657	Oculomotor apraxia
23028	KDM1A	HP:0000664	Synophrys
23028	KDM1A	HP:0004322	Short stature
23028	KDM1A	HP:0031936	Delayed ability to walk
23028	KDM1A	HP:0000750	Delayed speech and language development
23028	KDM1A	HP:0045075	Sparse eyebrow
23028	KDM1A	HP:0000998	Hypertrichosis
23028	KDM1A	HP:0000256	Macrocephaly
23028	KDM1A	HP:0000248	Brachycephaly
23028	KDM1A	HP:0000219	Thin upper lip vermilion
23028	KDM1A	HP:0030048	Colpocephaly
23028	KDM1A	HP:0011078	Abnormality of canine
23028	KDM1A	HP:0000316	Hypertelorism
23028	KDM1A	HP:0001655	Patent foramen ovale
23028	KDM1A	HP:0000486	Strabismus
23028	KDM1A	HP:0000494	Downslanted palpebral fissures
23028	KDM1A	HP:0000463	Anteverted nares
23028	KDM1A	HP:0012448	Delayed myelination
23028	KDM1A	HP:0012430	Cerebral white matter hypoplasia
23028	KDM1A	HP:0000431	Wide nasal bridge
23028	KDM1A	HP:0000508	Ptosis
23028	KDM1A	HP:0001800	Hypoplastic toenails
23028	KDM1A	HP:0000577	Exotropia
23028	KDM1A	HP:0000592	Blue sclerae
23028	KDM1A	HP:0011220	Prominent forehead
23030	KDM4B	HP:0025101	Dysgenesis of the hippocampus
23030	KDM4B	HP:0010953	Noncommunicating hydrocephalus
23030	KDM4B	HP:0010862	Delayed fine motor development
23030	KDM4B	HP:0001274	Agenesis of corpus callosum
23030	KDM4B	HP:0001250	Seizure
23030	KDM4B	HP:0001252	Hypotonia
23030	KDM4B	HP:0001251	Ataxia
23030	KDM4B	HP:0001249	Intellectual disability
23030	KDM4B	HP:0001263	Global developmental delay
23030	KDM4B	HP:0000006	Autosomal dominant inheritance
23030	KDM4B	HP:0002714	Downturned corners of mouth
23030	KDM4B	HP:0002194	Delayed gross motor development
23030	KDM4B	HP:0002162	Low posterior hairline
23030	KDM4B	HP:0003593	Infantile onset
23030	KDM4B	HP:0007018	Attention deficit hyperactivity disorder
23030	KDM4B	HP:0010804	Tented upper lip vermilion
23030	KDM4B	HP:0002312	Clumsiness
23030	KDM4B	HP:0004209	Clinodactyly of the 5th finger
23030	KDM4B	HP:0004279	Short palm
23030	KDM4B	HP:0000664	Synophrys
23030	KDM4B	HP:0000750	Delayed speech and language development
23030	KDM4B	HP:0000718	Aggressive behavior
23030	KDM4B	HP:0000729	Autistic behavior
23030	KDM4B	HP:0045074	Thin eyebrow
23030	KDM4B	HP:0000954	Single transverse palmar crease
23030	KDM4B	HP:0045025	Narrow palpebral fissure
23030	KDM4B	HP:0008070	Sparse hair
23030	KDM4B	HP:0000297	Facial hypotonia
23030	KDM4B	HP:0000262	Turricephaly
23030	KDM4B	HP:0000215	Thick upper lip vermilion
23030	KDM4B	HP:0000358	Posteriorly rotated ears
23030	KDM4B	HP:0000369	Low-set ears
23030	KDM4B	HP:0000341	Narrow forehead
23030	KDM4B	HP:0000343	Long philtrum
23030	KDM4B	HP:0000347	Micrognathia
23030	KDM4B	HP:0000311	Round face
23030	KDM4B	HP:0000322	Short philtrum
23030	KDM4B	HP:0000324	Facial asymmetry
23030	KDM4B	HP:0000400	Macrotia
23030	KDM4B	HP:0012469	Infantile spasms
23030	KDM4B	HP:0000463	Anteverted nares
23030	KDM4B	HP:0001773	Short foot
23030	KDM4B	HP:0000414	Bulbous nose
23030	KDM4B	HP:0000431	Wide nasal bridge
23030	KDM4B	HP:0005487	Prominent metopic ridge
23030	KDM4B	HP:0000582	Upslanted palpebral fissure
23031	MAST3	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
23031	MAST3	HP:0001249	Intellectual disability
23031	MAST3	HP:0007334	Bilateral tonic-clonic seizure with focal onset
23031	MAST3	HP:0033725	Thin corpus callosum
23031	MAST3	HP:0000006	Autosomal dominant inheritance
23031	MAST3	HP:0002121	Generalized non-motor (absence) seizure
23031	MAST3	HP:0003593	Infantile onset
23031	MAST3	HP:0200134	Epileptic encephalopathy
23031	MAST3	HP:0002384	Focal impaired awareness seizure
23031	MAST3	HP:0010819	Atonic seizure
23031	MAST3	HP:0011463	Childhood onset
23031	MAST3	HP:0032660	Convulsive status epilepticus
23031	MAST3	HP:0032663	Focal motor status epilepticus
23031	MAST3	HP:0032792	Tonic seizure
23031	MAST3	HP:0032794	Myoclonic seizure
23031	MAST3	HP:0012506	Small pituitary gland
23036	ZNF292	HP:0001276	Hypertonia
23036	ZNF292	HP:0001250	Seizure
23036	ZNF292	HP:0001252	Hypotonia
23036	ZNF292	HP:0001249	Intellectual disability
23036	ZNF292	HP:0001263	Global developmental delay
23036	ZNF292	HP:0032388	Periventricular nodular heterotopia
23036	ZNF292	HP:0001212	Prominent fingertip pads
23036	ZNF292	HP:0001357	Plagiocephaly
23036	ZNF292	HP:0000006	Autosomal dominant inheritance
23036	ZNF292	HP:0001321	Cerebellar hypoplasia
23036	ZNF292	HP:0002119	Ventriculomegaly
23036	ZNF292	HP:0007018	Attention deficit hyperactivity disorder
23036	ZNF292	HP:0011968	Feeding difficulties
23036	ZNF292	HP:0004209	Clinodactyly of the 5th finger
23036	ZNF292	HP:0000639	Nystagmus
23036	ZNF292	HP:0000664	Synophrys
23036	ZNF292	HP:0000750	Delayed speech and language development
23036	ZNF292	HP:0000729	Autistic behavior
23036	ZNF292	HP:0000954	Single transverse palmar crease
23036	ZNF292	HP:0000286	Epicanthus
23036	ZNF292	HP:0000252	Microcephaly
23036	ZNF292	HP:0000219	Thin upper lip vermilion
23036	ZNF292	HP:0000218	High palate
23036	ZNF292	HP:0001510	Growth delay
23036	ZNF292	HP:0000378	Cupped ear
23036	ZNF292	HP:0000369	Low-set ears
23036	ZNF292	HP:0000347	Micrognathia
23036	ZNF292	HP:0000319	Smooth philtrum
23036	ZNF292	HP:0000316	Hypertelorism
23036	ZNF292	HP:0000331	Short chin
23036	ZNF292	HP:0000322	Short philtrum
23036	ZNF292	HP:0000307	Pointed chin
23036	ZNF292	HP:0005280	Depressed nasal bridge
23036	ZNF292	HP:0000486	Strabismus
23036	ZNF292	HP:0000463	Anteverted nares
23036	ZNF292	HP:0012450	Chronic constipation
23036	ZNF292	HP:0000414	Bulbous nose
23036	ZNF292	HP:0005487	Prominent metopic ridge
23036	ZNF292	HP:0000582	Upslanted palpebral fissure
23036	ZNF292	HP:0011220	Prominent forehead
23040	MYT1L	HP:0001249	Intellectual disability
23040	MYT1L	HP:0002591	Polyphagia
23040	MYT1L	HP:0001263	Global developmental delay
23040	MYT1L	HP:0033725	Thin corpus callosum
23040	MYT1L	HP:0000006	Autosomal dominant inheritance
23040	MYT1L	HP:0001319	Neonatal hypotonia
23040	MYT1L	HP:0000154	Wide mouth
23040	MYT1L	HP:0002059	Cerebral atrophy
23040	MYT1L	HP:0002121	Generalized non-motor (absence) seizure
23040	MYT1L	HP:0002194	Delayed gross motor development
23040	MYT1L	HP:0003593	Infantile onset
23040	MYT1L	HP:0002384	Focal impaired awareness seizure
23040	MYT1L	HP:0031936	Delayed ability to walk
23040	MYT1L	HP:0000750	Delayed speech and language development
23040	MYT1L	HP:0000742	Self-mutilation
23040	MYT1L	HP:0000718	Aggressive behavior
23040	MYT1L	HP:0000729	Autistic behavior
23040	MYT1L	HP:0012810	Wide nasal base
23040	MYT1L	HP:0000238	Hydrocephalus
23040	MYT1L	HP:0001513	Obesity
23040	MYT1L	HP:0001776	Bilateral talipes equinovarus
23040	MYT1L	HP:0000431	Wide nasal bridge
23043	TNIK	HP:0001249	Intellectual disability
23043	TNIK	HP:0000007	Autosomal recessive inheritance
23043	TNIK	HP:0002267	Exaggerated startle response
23043	TNIK	HP:0003593	Infantile onset
23043	TNIK	HP:0007018	Attention deficit hyperactivity disorder
23043	TNIK	HP:0000750	Delayed speech and language development
23043	TNIK	HP:0000712	Emotional lability
23064	SETX	HP:0001152	Saccadic smooth pursuit
23064	SETX	HP:0002460	Distal muscle weakness
23064	SETX	HP:0007267	Chronic axonal neuropathy
23064	SETX	HP:0007256	Abnormal pyramidal sign
23064	SETX	HP:0007240	Progressive gait ataxia
23064	SETX	HP:0001272	Cerebellar atrophy
23064	SETX	HP:0001271	Polyneuropathy
23064	SETX	HP:0001288	Gait disturbance
23064	SETX	HP:0001284	Areflexia
23064	SETX	HP:0001251	Ataxia
23064	SETX	HP:0001265	Hyporeflexia
23064	SETX	HP:0001266	Choreoathetosis
23064	SETX	HP:0001260	Dysarthria
23064	SETX	HP:0001258	Spastic paraplegia
23064	SETX	HP:0007354	Amyotrophic lateral sclerosis
23064	SETX	HP:0003828	Variable expressivity
23064	SETX	HP:0001347	Hyperreflexia
23064	SETX	HP:0001332	Dystonia
23064	SETX	HP:0000007	Autosomal recessive inheritance
23064	SETX	HP:0001337	Tremor
23064	SETX	HP:0000006	Autosomal dominant inheritance
23064	SETX	HP:0002650	Scoliosis
23064	SETX	HP:0001315	Reduced tendon reflexes
23064	SETX	HP:0006254	Elevated circulating alpha-fetoprotein concentration
23064	SETX	HP:0002015	Dysphagia
23064	SETX	HP:0002066	Gait ataxia
23064	SETX	HP:0002072	Chorea
23064	SETX	HP:0002070	Limb ataxia
23064	SETX	HP:0003477	Peripheral axonal neuropathy
23064	SETX	HP:0003474	Somatic sensory dysfunction
23064	SETX	HP:0002141	Gait imbalance
23064	SETX	HP:0003487	Babinski sign
23064	SETX	HP:0003431	Decreased motor nerve conduction velocity
23064	SETX	HP:0003405	Diffuse axonal swelling
23064	SETX	HP:0002169	Clonus
23064	SETX	HP:0002174	Postural tremor
23064	SETX	HP:0010546	Muscle fibrillation
23064	SETX	HP:0010702	Increased circulating antibody level
23064	SETX	HP:0033383	Decreased compound muscle action potential amplitude
23064	SETX	HP:0002398	Degeneration of anterior horn cells
23064	SETX	HP:0002366	Abnormal lower motor neuron morphology
23064	SETX	HP:0003693	Distal amyotrophy
23064	SETX	HP:0003676	Progressive
23064	SETX	HP:0002355	Difficulty walking
23064	SETX	HP:0002346	Head tremor
23064	SETX	HP:0003677	Slowly progressive
23064	SETX	HP:0010831	Impaired proprioception
23064	SETX	HP:0007141	Sensorimotor neuropathy
23064	SETX	HP:0003621	Juvenile onset
23064	SETX	HP:0006855	Cerebellar vermis atrophy
23064	SETX	HP:0006825	Pallor of dorsal columns of the spinal cord
23064	SETX	HP:0006827	Atrophy of the spinal cord
23064	SETX	HP:0006879	Pontocerebellar atrophy
23064	SETX	HP:0006886	Impaired distal vibration sensation
23064	SETX	HP:0000640	Gaze-evoked nystagmus
23064	SETX	HP:0000639	Nystagmus
23064	SETX	HP:0000657	Oculomotor apraxia
23064	SETX	HP:0006937	Impaired distal tactile sensation
23064	SETX	HP:0003073	Hypoalbuminemia
23064	SETX	HP:0000764	Peripheral axonal degeneration
23064	SETX	HP:0011462	Young adult onset
23064	SETX	HP:0003124	Hypercholesterolemia
23064	SETX	HP:0040078	Axonal degeneration
23064	SETX	HP:0003236	Elevated circulating creatine kinase concentration
23064	SETX	HP:0003202	Skeletal muscle atrophy
23064	SETX	HP:0030007	EMG: positive sharp waves
23064	SETX	HP:0002839	Urinary bladder sphincter dysfunction
23064	SETX	HP:0000486	Strabismus
23064	SETX	HP:0001761	Pes cavus
23064	SETX	HP:0000524	Conjunctival telangiectasia
23065	EMC1	HP:0001290	Generalized hypotonia
23065	EMC1	HP:0001272	Cerebellar atrophy
23065	EMC1	HP:0001250	Seizure
23065	EMC1	HP:0001249	Intellectual disability
23065	EMC1	HP:0001265	Hyporeflexia
23065	EMC1	HP:0001263	Global developmental delay
23065	EMC1	HP:0008755	Laryngotracheomalacia
23065	EMC1	HP:0007371	Corpus callosum atrophy
23065	EMC1	HP:0001212	Prominent fingertip pads
23065	EMC1	HP:0002509	Limb hypertonia
23065	EMC1	HP:0001332	Dystonia
23065	EMC1	HP:0000007	Autosomal recessive inheritance
23065	EMC1	HP:0002650	Scoliosis
23065	EMC1	HP:0000188	Short upper lip
23065	EMC1	HP:0008936	Axial hypotonia
23065	EMC1	HP:0002023	Anal atresia
23065	EMC1	HP:0002079	Hypoplasia of the corpus callosum
23065	EMC1	HP:0002059	Cerebral atrophy
23065	EMC1	HP:0002187	Intellectual disability, profound
23065	EMC1	HP:0100704	Cerebral visual impairment
23065	EMC1	HP:0001045	Vitiligo
23065	EMC1	HP:0003676	Progressive
23065	EMC1	HP:0002353	EEG abnormality
23065	EMC1	HP:0000649	Abnormality of visual evoked potentials
23065	EMC1	HP:0000648	Optic atrophy
23065	EMC1	HP:0001999	Abnormal facial shape
23065	EMC1	HP:0031954	Dystonic gait
23065	EMC1	HP:0000750	Delayed speech and language development
23065	EMC1	HP:0100275	Diffuse cerebellar atrophy
23065	EMC1	HP:0000278	Retrognathia
23065	EMC1	HP:0000294	Low anterior hairline
23065	EMC1	HP:0000253	Progressive microcephaly
23065	EMC1	HP:0000212	Gingival overgrowth
23065	EMC1	HP:0000377	Abnormal pinna morphology
23065	EMC1	HP:0000347	Micrognathia
23065	EMC1	HP:0000316	Hypertelorism
23065	EMC1	HP:0000322	Short philtrum
23065	EMC1	HP:0000483	Astigmatism
23065	EMC1	HP:0000486	Strabismus
23065	EMC1	HP:0000490	Deeply set eye
23065	EMC1	HP:0012444	Brain atrophy
23065	EMC1	HP:0005484	Secondary microcephaly
23065	EMC1	HP:0000512	Abnormal electroretinogram
23065	EMC1	HP:0000565	Esotropia
23065	EMC1	HP:0000540	Hypermetropia
23065	EMC1	HP:0000545	Myopia
23067	SETD1B	HP:0001182	Tapered finger
23067	SETD1B	HP:0001256	Intellectual disability, mild
23067	SETD1B	HP:0001263	Global developmental delay
23067	SETD1B	HP:0000006	Autosomal dominant inheritance
23067	SETD1B	HP:0000179	Thick lower lip vermilion
23067	SETD1B	HP:0002069	Bilateral tonic-clonic seizure
23067	SETD1B	HP:0002187	Intellectual disability, profound
23067	SETD1B	HP:0002392	EEG with polyspike wave complexes
23067	SETD1B	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
23067	SETD1B	HP:0000739	Anxiety
23067	SETD1B	HP:0000750	Delayed speech and language development
23067	SETD1B	HP:0000729	Autistic behavior
23067	SETD1B	HP:0000293	Full cheeks
23067	SETD1B	HP:0031535	Increased theta frequency activity in EEG
23067	SETD1B	HP:0000321	Square face
23067	SETD1B	HP:0032794	Myoclonic seizure
23067	SETD1B	HP:0011150	Myoclonic absence seizure
23067	SETD1B	HP:0000494	Downslanted palpebral fissures
23067	SETD1B	HP:0005469	Flat occiput
23067	SETD1B	HP:0000574	Thick eyebrow
23086	EXPH5	HP:0000007	Autosomal recessive inheritance
23086	EXPH5	HP:0001030	Fragile skin
23086	EXPH5	HP:0025092	Epidermal acanthosis
23086	EXPH5	HP:0000962	Hyperkeratosis
23090	ZNF423	HP:0001161	Hand polydactyly
23090	ZNF423	HP:0002419	Molar tooth sign on MRI
23090	ZNF423	HP:0001250	Seizure
23090	ZNF423	HP:0001252	Hypotonia
23090	ZNF423	HP:0001251	Ataxia
23090	ZNF423	HP:0001249	Intellectual disability
23090	ZNF423	HP:0001263	Global developmental delay
23090	ZNF423	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
23090	ZNF423	HP:0002553	Highly arched eyebrow
23090	ZNF423	HP:0000083	Renal insufficiency
23090	ZNF423	HP:0000090	Nephronophthisis
23090	ZNF423	HP:0000007	Autosomal recessive inheritance
23090	ZNF423	HP:0000006	Autosomal dominant inheritance
23090	ZNF423	HP:0001320	Cerebellar vermis hypoplasia
23090	ZNF423	HP:0002650	Scoliosis
23090	ZNF423	HP:0000113	Polycystic kidney dysplasia
23090	ZNF423	HP:0002789	Tachypnea
23090	ZNF423	HP:0000112	Nephropathy
23090	ZNF423	HP:0002084	Encephalocele
23090	ZNF423	HP:0002104	Apnea
23090	ZNF423	HP:0002269	Abnormality of neuronal migration
23090	ZNF423	HP:0002251	Aganglionic megacolon
23090	ZNF423	HP:0000639	Nystagmus
23090	ZNF423	HP:0000618	Blindness
23090	ZNF423	HP:0000612	Iris coloboma
23090	ZNF423	HP:0030680	Abnormality of cardiovascular system morphology
23090	ZNF423	HP:0000729	Autistic behavior
23090	ZNF423	HP:0000708	Atypical behavior
23090	ZNF423	HP:0004422	Biparietal narrowing
23090	ZNF423	HP:0000864	Abnormality of the hypothalamus-pituitary axis
23090	ZNF423	HP:0000276	Long face
23090	ZNF423	HP:0000238	Hydrocephalus
23090	ZNF423	HP:0001696	Situs inversus totalis
23090	ZNF423	HP:0000368	Low-set, posteriorly rotated ears
23090	ZNF423	HP:0000486	Strabismus
23090	ZNF423	HP:0000463	Anteverted nares
23090	ZNF423	HP:0000426	Prominent nasal bridge
23090	ZNF423	HP:0001829	Foot polydactyly
23090	ZNF423	HP:0000508	Ptosis
23090	ZNF423	HP:0000505	Visual impairment
23090	ZNF423	HP:0000556	Retinal dystrophy
23090	ZNF423	HP:0000567	Chorioretinal coloboma
23090	ZNF423	HP:0000546	Retinal degeneration
23092	ARHGAP26	HP:0000006	Autosomal dominant inheritance
23092	ARHGAP26	HP:0001428	Somatic mutation
23092	ARHGAP26	HP:0012209	Juvenile myelomonocytic leukemia
23093	TTLL5	HP:0000007	Autosomal recessive inheritance
23093	TTLL5	HP:0007663	Reduced visual acuity
23093	TTLL5	HP:0003596	Middle age onset
23093	TTLL5	HP:0000613	Photophobia
23093	TTLL5	HP:0000662	Nyctalopia
23093	TTLL5	HP:0030629	Perifoveal ring of hyperautofluorescence
23093	TTLL5	HP:0011463	Childhood onset
23093	TTLL5	HP:0011462	Young adult onset
23093	TTLL5	HP:0030844	Undetectable pattern electroretinogram
23093	TTLL5	HP:0007703	Abnormality of retinal pigmentation
23093	TTLL5	HP:0011003	High myopia
23093	TTLL5	HP:0000505	Visual impairment
23093	TTLL5	HP:0000551	Color vision defect
23093	TTLL5	HP:0000548	Cone/cone-rod dystrophy
23094	SIPA1L3	HP:0000007	Autosomal recessive inheritance
23094	SIPA1L3	HP:0000519	Developmental cataract
23095	KIF1B	HP:0002460	Distal muscle weakness
23095	KIF1B	HP:0008629	Pulsatile tinnitus
23095	KIF1B	HP:0003745	Sporadic
23095	KIF1B	HP:0025269	Panic attack
23095	KIF1B	HP:0001293	Cranial nerve compression
23095	KIF1B	HP:0001284	Areflexia
23095	KIF1B	HP:0001251	Ataxia
23095	KIF1B	HP:0001265	Hyporeflexia
23095	KIF1B	HP:0002574	Episodic abdominal pain
23095	KIF1B	HP:0003829	Typified by incomplete penetrance
23095	KIF1B	HP:0000096	Glomerular sclerosis
23095	KIF1B	HP:0000093	Proteinuria
23095	KIF1B	HP:0033823	Mediastinal mass
23095	KIF1B	HP:0002664	Neoplasm
23095	KIF1B	HP:0001342	Cerebral hemorrhage
23095	KIF1B	HP:0002668	Paraganglioma
23095	KIF1B	HP:0001337	Tremor
23095	KIF1B	HP:0000006	Autosomal dominant inheritance
23095	KIF1B	HP:0002666	Pheochromocytoma
23095	KIF1B	HP:0001336	Myoclonus
23095	KIF1B	HP:0002640	Hypertension associated with pheochromocytoma
23095	KIF1B	HP:0002653	Bone pain
23095	KIF1B	HP:0031284	Flushing
23095	KIF1B	HP:0001428	Somatic mutation
23095	KIF1B	HP:0002018	Nausea
23095	KIF1B	HP:0002027	Abdominal pain
23095	KIF1B	HP:0003345	Elevated urinary norepinephrine
23095	KIF1B	HP:0002014	Diarrhea
23095	KIF1B	HP:0003378	Axonal degeneration/regeneration
23095	KIF1B	HP:0003376	Steppage gait
23095	KIF1B	HP:0003383	Onion bulb formation
23095	KIF1B	HP:0003384	Peripheral axonal atrophy
23095	KIF1B	HP:0003380	Decreased number of peripheral myelinated nerve fibers
23095	KIF1B	HP:0011703	Sinus tachycardia
23095	KIF1B	HP:0003477	Peripheral axonal neuropathy
23095	KIF1B	HP:0003431	Decreased motor nerve conduction velocity
23095	KIF1B	HP:0002176	Spinal cord compression
23095	KIF1B	HP:0010543	Opsoclonus
23095	KIF1B	HP:0010532	Paroxysmal vertigo
23095	KIF1B	HP:0003596	Middle age onset
23095	KIF1B	HP:0002277	Horner syndrome
23095	KIF1B	HP:0003574	Positive regitine blocking test
23095	KIF1B	HP:0003528	Elevated calcitonin
23095	KIF1B	HP:0009711	Retinal capillary hemangioma
23095	KIF1B	HP:0100749	Chest pain
23095	KIF1B	HP:0011979	Elevated urinary dopamine
23095	KIF1B	HP:0011976	Elevated urinary catecholamines
23095	KIF1B	HP:0011977	Elevated urinary homovanillic acid
23095	KIF1B	HP:0011978	Elevated urinary vanillylmandelic acid
23095	KIF1B	HP:0010628	Facial palsy
23095	KIF1B	HP:0001069	Episodic hyperhidrosis
23095	KIF1B	HP:0003693	Distal amyotrophy
23095	KIF1B	HP:0003690	Limb muscle weakness
23095	KIF1B	HP:0001028	Hemangioma
23095	KIF1B	HP:0003677	Slowly progressive
23095	KIF1B	HP:0002331	Recurrent paroxysmal headache
23095	KIF1B	HP:0200036	Skin nodule
23095	KIF1B	HP:0009830	Peripheral neuropathy
23095	KIF1B	HP:0001095	Hypertensive retinopathy
23095	KIF1B	HP:0003639	Elevated urinary epinephrine
23095	KIF1B	HP:0005584	Renal cell carcinoma
23095	KIF1B	HP:0001962	Palpitations
23095	KIF1B	HP:0001945	Fever
23095	KIF1B	HP:0001920	Renal artery stenosis
23095	KIF1B	HP:0001903	Anemia
23095	KIF1B	HP:0009027	Foot dorsiflexor weakness
23095	KIF1B	HP:0003005	Ganglioneuroma
23095	KIF1B	HP:0003072	Hypercalcemia
23095	KIF1B	HP:0003006	Neuroblastoma
23095	KIF1B	HP:0000740	Episodic paroxysmal anxiety
23095	KIF1B	HP:0000790	Hematuria
23095	KIF1B	HP:0000875	Episodic hypertension
23095	KIF1B	HP:0000822	Hypertension
23095	KIF1B	HP:0000980	Pallor
23095	KIF1B	HP:0000975	Hyperhidrosis
23095	KIF1B	HP:0000957	Cafe-au-lait spot
23095	KIF1B	HP:0012222	Arachnoid hemangiomatosis
23095	KIF1B	HP:0002864	Paraganglioma of head and neck
23095	KIF1B	HP:0001508	Failure to thrive
23095	KIF1B	HP:0031500	Abdominal mass
23095	KIF1B	HP:0012378	Fatigue
23095	KIF1B	HP:0002936	Distal sensory impairment
23095	KIF1B	HP:0001605	Vocal cord paralysis
23095	KIF1B	HP:0001618	Dysphonia
23095	KIF1B	HP:0001649	Tachycardia
23095	KIF1B	HP:0001635	Congestive heart failure
23095	KIF1B	HP:0000405	Conductive hearing impairment
23095	KIF1B	HP:0001765	Hammertoe
23095	KIF1B	HP:0001761	Pes cavus
23095	KIF1B	HP:0006747	Ganglioneuroblastoma
23095	KIF1B	HP:0006748	Adrenal pheochromocytoma
23095	KIF1B	HP:0006737	Extraadrenal pheochromocytoma
23095	KIF1B	HP:0011281	Abnormality of urine catecholamine level
23095	KIF1B	HP:0000519	Developmental cataract
23095	KIF1B	HP:0000526	Aniridia
23095	KIF1B	HP:0001824	Weight loss
23096	IQSEC2	HP:0002487	Hyperkinetic movements
23096	IQSEC2	HP:0001156	Brachydactyly
23096	IQSEC2	HP:0001161	Hand polydactyly
23096	IQSEC2	HP:0002465	Poor speech
23096	IQSEC2	HP:0007328	Impaired pain sensation
23096	IQSEC2	HP:0010864	Intellectual disability, severe
23096	IQSEC2	HP:0001290	Generalized hypotonia
23096	IQSEC2	HP:0001288	Gait disturbance
23096	IQSEC2	HP:0001250	Seizure
23096	IQSEC2	HP:0001252	Hypotonia
23096	IQSEC2	HP:0001249	Intellectual disability
23096	IQSEC2	HP:0001265	Hyporeflexia
23096	IQSEC2	HP:0001263	Global developmental delay
23096	IQSEC2	HP:0008763	No social interaction
23096	IQSEC2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
23096	IQSEC2	HP:0008678	Renal hypoplasia/aplasia
23096	IQSEC2	HP:0000069	Abnormality of the ureter
23096	IQSEC2	HP:0001387	Joint stiffness
23096	IQSEC2	HP:0008872	Feeding difficulties in infancy
23096	IQSEC2	HP:0001344	Absent speech
23096	IQSEC2	HP:0002650	Scoliosis
23096	IQSEC2	HP:0012171	Stereotypical hand wringing
23096	IQSEC2	HP:0000194	Open mouth
23096	IQSEC2	HP:0000175	Cleft palate
23096	IQSEC2	HP:0001423	X-linked dominant inheritance
23096	IQSEC2	HP:0001419	X-linked recessive inheritance
23096	IQSEC2	HP:0002020	Gastroesophageal reflux
23096	IQSEC2	HP:0002019	Constipation
23096	IQSEC2	HP:0002007	Frontal bossing
23096	IQSEC2	HP:0003312	Abnormal form of the vertebral bodies
23096	IQSEC2	HP:0011800	Midface retrusion
23096	IQSEC2	HP:0100542	Abnormal localization of kidney
23096	IQSEC2	HP:0002069	Bilateral tonic-clonic seizure
23096	IQSEC2	HP:0002155	Hypertriglyceridemia
23096	IQSEC2	HP:0002119	Ventriculomegaly
23096	IQSEC2	HP:0002167	Abnormality of speech or vocalization
23096	IQSEC2	HP:0003593	Infantile onset
23096	IQSEC2	HP:0100716	Self-injurious behavior
23096	IQSEC2	HP:0100729	Large face
23096	IQSEC2	HP:0007016	Corticospinal tract hypoplasia
23096	IQSEC2	HP:0007018	Attention deficit hyperactivity disorder
23096	IQSEC2	HP:0002360	Sleep disturbance
23096	IQSEC2	HP:0002376	Developmental regression
23096	IQSEC2	HP:0002353	EEG abnormality
23096	IQSEC2	HP:0010819	Atonic seizure
23096	IQSEC2	HP:0009830	Peripheral neuropathy
23096	IQSEC2	HP:0010804	Tented upper lip vermilion
23096	IQSEC2	HP:0010780	Hyperacusis
23096	IQSEC2	HP:0004209	Clinodactyly of the 5th finger
23096	IQSEC2	HP:0000680	Delayed eruption of primary teeth
23096	IQSEC2	HP:0000679	Taurodontia
23096	IQSEC2	HP:0000664	Synophrys
23096	IQSEC2	HP:0000666	Horizontal nystagmus
23096	IQSEC2	HP:0004322	Short stature
23096	IQSEC2	HP:0005607	Abnormal tracheobronchial morphology
23096	IQSEC2	HP:0030680	Abnormality of cardiovascular system morphology
23096	IQSEC2	HP:0000739	Anxiety
23096	IQSEC2	HP:0000733	Abnormal repetitive mannerisms
23096	IQSEC2	HP:0000735	Impaired social interactions
23096	IQSEC2	HP:0000750	Delayed speech and language development
23096	IQSEC2	HP:0000718	Aggressive behavior
23096	IQSEC2	HP:0000717	Autism
23096	IQSEC2	HP:0000729	Autistic behavior
23096	IQSEC2	HP:0000708	Atypical behavior
23096	IQSEC2	HP:0003124	Hypercholesterolemia
23096	IQSEC2	HP:0003196	Short nose
23096	IQSEC2	HP:0000826	Precocious puberty
23096	IQSEC2	HP:0000821	Hypothyroidism
23096	IQSEC2	HP:0000823	Delayed puberty
23096	IQSEC2	HP:0000253	Progressive microcephaly
23096	IQSEC2	HP:0000252	Microcephaly
23096	IQSEC2	HP:0000248	Brachycephaly
23096	IQSEC2	HP:0001558	Decreased fetal movement
23096	IQSEC2	HP:0001531	Failure to thrive in infancy
23096	IQSEC2	HP:0000204	Cleft upper lip
23096	IQSEC2	HP:0001513	Obesity
23096	IQSEC2	HP:0000389	Chronic otitis media
23096	IQSEC2	HP:0001609	Hoarse voice
23096	IQSEC2	HP:0001611	Hypernasal speech
23096	IQSEC2	HP:0000337	Broad forehead
23096	IQSEC2	HP:0000347	Micrognathia
23096	IQSEC2	HP:0000316	Hypertelorism
23096	IQSEC2	HP:0000322	Short philtrum
23096	IQSEC2	HP:0000303	Mandibular prognathia
23096	IQSEC2	HP:0000405	Conductive hearing impairment
23096	IQSEC2	HP:0000400	Macrotia
23096	IQSEC2	HP:0005280	Depressed nasal bridge
23096	IQSEC2	HP:0030215	Inappropriate crying
23096	IQSEC2	HP:0000486	Strabismus
23096	IQSEC2	HP:0000482	Microcornea
23096	IQSEC2	HP:0000490	Deeply set eye
23096	IQSEC2	HP:0000463	Anteverted nares
23096	IQSEC2	HP:0001770	Toe syndactyly
23096	IQSEC2	HP:0001763	Pes planus
23096	IQSEC2	HP:0000431	Wide nasal bridge
23096	IQSEC2	HP:0001761	Pes cavus
23096	IQSEC2	HP:0005484	Secondary microcephaly
23096	IQSEC2	HP:0000582	Upslanted palpebral fissure
23096	IQSEC2	HP:0012557	EEG with centrotemporal focal spike waves
23096	IQSEC2	HP:0000541	Retinal detachment
23096	IQSEC2	HP:0000540	Hypermetropia
23096	IQSEC2	HP:0000545	Myopia
23097	CDK19	HP:0002421	Poor head control
23097	CDK19	HP:0001298	Encephalopathy
23097	CDK19	HP:0001290	Generalized hypotonia
23097	CDK19	HP:0001276	Hypertonia
23097	CDK19	HP:0001273	Abnormal corpus callosum morphology
23097	CDK19	HP:0001268	Mental deterioration
23097	CDK19	HP:0001250	Seizure
23097	CDK19	HP:0001251	Ataxia
23097	CDK19	HP:0001249	Intellectual disability
23097	CDK19	HP:0001265	Hyporeflexia
23097	CDK19	HP:0001263	Global developmental delay
23097	CDK19	HP:0001257	Spasticity
23097	CDK19	HP:0002521	Hypsarrhythmia
23097	CDK19	HP:0002509	Limb hypertonia
23097	CDK19	HP:0001337	Tremor
23097	CDK19	HP:0000006	Autosomal dominant inheritance
23097	CDK19	HP:0001336	Myoclonus
23097	CDK19	HP:0002650	Scoliosis
23097	CDK19	HP:0001315	Reduced tendon reflexes
23097	CDK19	HP:0000154	Wide mouth
23097	CDK19	HP:0002020	Gastroesophageal reflux
23097	CDK19	HP:0011800	Midface retrusion
23097	CDK19	HP:0002063	Rigidity
23097	CDK19	HP:0002059	Cerebral atrophy
23097	CDK19	HP:0002133	Status epilepticus
23097	CDK19	HP:0002188	Delayed CNS myelination
23097	CDK19	HP:0100710	Impulsivity
23097	CDK19	HP:0007018	Attention deficit hyperactivity disorder
23097	CDK19	HP:0011968	Feeding difficulties
23097	CDK19	HP:0002376	Developmental regression
23097	CDK19	HP:0002355	Difficulty walking
23097	CDK19	HP:0002317	Unsteady gait
23097	CDK19	HP:0010844	EEG with multifocal slow activity
23097	CDK19	HP:0100660	Dyskinesia
23097	CDK19	HP:0010806	U-Shaped upper lip vermilion
23097	CDK19	HP:0000639	Nystagmus
23097	CDK19	HP:0000648	Optic atrophy
23097	CDK19	HP:0000601	Hypotelorism
23097	CDK19	HP:0000687	Widely spaced teeth
23097	CDK19	HP:0000668	Hypodontia
23097	CDK19	HP:0004322	Short stature
23097	CDK19	HP:0004305	Involuntary movements
23097	CDK19	HP:0100023	Recurrent hand flapping
23097	CDK19	HP:0000750	Delayed speech and language development
23097	CDK19	HP:0000717	Autism
23097	CDK19	HP:0000708	Atypical behavior
23097	CDK19	HP:0011443	Abnormality of coordination
23097	CDK19	HP:0000954	Single transverse palmar crease
23097	CDK19	HP:0000252	Microcephaly
23097	CDK19	HP:0000218	High palate
23097	CDK19	HP:0001558	Decreased fetal movement
23097	CDK19	HP:0001508	Failure to thrive
23097	CDK19	HP:0000348	High forehead
23097	CDK19	HP:0000316	Hypertelorism
23097	CDK19	HP:0012469	Infantile spasms
23097	CDK19	HP:0000494	Downslanted palpebral fissures
23097	CDK19	HP:0012444	Brain atrophy
23097	CDK19	HP:0012447	Abnormal myelination
23097	CDK19	HP:0000448	Prominent nose
23097	CDK19	HP:0000414	Bulbous nose
23097	CDK19	HP:0000508	Ptosis
23097	CDK19	HP:0000504	Abnormality of vision
23097	CDK19	HP:0011228	Horizontal eyebrow
23097	CDK19	HP:0012547	Abnormal involuntary eye movements
23097	CDK19	HP:0000546	Retinal degeneration
23102	TBC1D2B	HP:0001272	Cerebellar atrophy
23102	TBC1D2B	HP:0001256	Intellectual disability, mild
23102	TBC1D2B	HP:0001250	Seizure
23102	TBC1D2B	HP:0001350	Slurred speech
23102	TBC1D2B	HP:0002690	Large sella turcica
23102	TBC1D2B	HP:0033720	EEG with occipital epileptiform discharges
23102	TBC1D2B	HP:0000007	Autosomal recessive inheritance
23102	TBC1D2B	HP:0007663	Reduced visual acuity
23102	TBC1D2B	HP:0006333	Crowded maxillary incisors
23102	TBC1D2B	HP:0008936	Axial hypotonia
23102	TBC1D2B	HP:0002066	Gait ataxia
23102	TBC1D2B	HP:0002119	Ventriculomegaly
23102	TBC1D2B	HP:0002187	Intellectual disability, profound
23102	TBC1D2B	HP:0100490	Camptodactyly of finger
23102	TBC1D2B	HP:0001047	Atopic dermatitis
23102	TBC1D2B	HP:0002376	Developmental regression
23102	TBC1D2B	HP:0006897	Abducens palsy
23102	TBC1D2B	HP:0000648	Optic atrophy
23102	TBC1D2B	HP:0011344	Severe global developmental delay
23102	TBC1D2B	HP:0000752	Hyperactivity
23102	TBC1D2B	HP:0100046	Cone-shaped epiphyses of the 2nd toe
23102	TBC1D2B	HP:0000748	Inappropriate laughter
23102	TBC1D2B	HP:0000729	Autistic behavior
23102	TBC1D2B	HP:0010164	Cone-shaped epiphyses of the toes
23102	TBC1D2B	HP:0100057	Cone-shaped epiphyses of the 3rd toe
23102	TBC1D2B	HP:0011463	Childhood onset
23102	TBC1D2B	HP:0100068	Cone-shaped epiphyses of the 4th toe
23102	TBC1D2B	HP:0030793	Jaw swelling
23102	TBC1D2B	HP:0005830	Flexion contracture of toe
23102	TBC1D2B	HP:0100271	Hyponasal speech
23102	TBC1D2B	HP:0000280	Coarse facial features
23102	TBC1D2B	HP:0000256	Macrocephaly
23102	TBC1D2B	HP:0000212	Gingival overgrowth
23102	TBC1D2B	HP:0001513	Obesity
23102	TBC1D2B	HP:0001609	Hoarse voice
23102	TBC1D2B	HP:0000327	Hypoplasia of the maxilla
23102	TBC1D2B	HP:0000303	Mandibular prognathia
23102	TBC1D2B	HP:0011198	EEG with generalized epileptiform discharges
23102	TBC1D2B	HP:0000484	Hyperopic astigmatism
23102	TBC1D2B	HP:0030215	Inappropriate crying
23102	TBC1D2B	HP:0000486	Strabismus
23102	TBC1D2B	HP:0001822	Hallux valgus
23102	TBC1D2B	HP:0000506	Telecanthus
23102	TBC1D2B	HP:0000508	Ptosis
23102	TBC1D2B	HP:0000581	Blepharophimosis
23102	TBC1D2B	HP:0000565	Esotropia
23111	SPART	HP:0001172	Abnormal thumb morphology
23111	SPART	HP:0001155	Abnormality of the hand
23111	SPART	HP:0001156	Brachydactyly
23111	SPART	HP:0002495	Impaired vibratory sensation
23111	SPART	HP:0002464	Spastic dysarthria
23111	SPART	HP:0025269	Panic attack
23111	SPART	HP:0001290	Generalized hypotonia
23111	SPART	HP:0001272	Cerebellar atrophy
23111	SPART	HP:0001270	Motor delay
23111	SPART	HP:0001256	Intellectual disability, mild
23111	SPART	HP:0001260	Dysarthria
23111	SPART	HP:0001263	Global developmental delay
23111	SPART	HP:0001258	Spastic paraplegia
23111	SPART	HP:0001257	Spasticity
23111	SPART	HP:0007340	Lower limb muscle weakness
23111	SPART	HP:0001371	Flexion contracture
23111	SPART	HP:0001382	Joint hypermobility
23111	SPART	HP:0001350	Slurred speech
23111	SPART	HP:0001347	Hyperreflexia
23111	SPART	HP:0001328	Specific learning disability
23111	SPART	HP:0000007	Autosomal recessive inheritance
23111	SPART	HP:0001310	Dysmetria
23111	SPART	HP:0001317	Abnormal cerebellum morphology
23111	SPART	HP:0000126	Hydronephrosis
23111	SPART	HP:0002751	Kyphoscoliosis
23111	SPART	HP:0002019	Constipation
23111	SPART	HP:0002015	Dysphagia
23111	SPART	HP:0100543	Cognitive impairment
23111	SPART	HP:0002064	Spastic gait
23111	SPART	HP:0002061	Lower limb spasticity
23111	SPART	HP:0100518	Dysuria
23111	SPART	HP:0005922	Abnormal hand morphology
23111	SPART	HP:0009487	Ulnar deviation of the hand
23111	SPART	HP:0003487	Babinski sign
23111	SPART	HP:0003484	Upper limb muscle weakness
23111	SPART	HP:0003693	Distal amyotrophy
23111	SPART	HP:0002360	Sleep disturbance
23111	SPART	HP:0002355	Difficulty walking
23111	SPART	HP:0002313	Spastic paraparesis
23111	SPART	HP:0002307	Drooling
23111	SPART	HP:0000639	Nystagmus
23111	SPART	HP:0004322	Short stature
23111	SPART	HP:0006986	Upper limb spasticity
23111	SPART	HP:0005639	Hyperextensible hand joints
23111	SPART	HP:0006938	Impaired vibration sensation at ankles
23111	SPART	HP:0000738	Hallucinations
23111	SPART	HP:0000739	Anxiety
23111	SPART	HP:0000750	Delayed speech and language development
23111	SPART	HP:0000712	Emotional lability
23111	SPART	HP:0000709	Psychosis
23111	SPART	HP:0011463	Childhood onset
23111	SPART	HP:0011449	Knee clonus
23111	SPART	HP:0011448	Ankle clonus
23111	SPART	HP:0000924	Abnormality of the skeletal system
23111	SPART	HP:0003202	Skeletal muscle atrophy
23111	SPART	HP:0000286	Epicanthus
23111	SPART	HP:0030084	Clinodactyly
23111	SPART	HP:0000252	Microcephaly
23111	SPART	HP:0002857	Genu valgum
23111	SPART	HP:0001510	Growth delay
23111	SPART	HP:0011094	Increased overbite
23111	SPART	HP:0011098	Speech apraxia
23111	SPART	HP:0012385	Camptodactyly
23111	SPART	HP:0012371	Hyperplasia of midface
23111	SPART	HP:0001609	Hoarse voice
23111	SPART	HP:0000369	Low-set ears
23111	SPART	HP:0000316	Hypertelorism
23111	SPART	HP:0005288	Abnormal nostril morphology
23111	SPART	HP:0000494	Downslanted palpebral fissures
23111	SPART	HP:0012450	Chronic constipation
23111	SPART	HP:0012443	Abnormality of brain morphology
23111	SPART	HP:0001773	Short foot
23111	SPART	HP:0001765	Hammertoe
23111	SPART	HP:0000448	Prominent nose
23111	SPART	HP:0001760	Abnormal foot morphology
23111	SPART	HP:0001761	Pes cavus
23112	TNRC6B	HP:0010862	Delayed fine motor development
23112	TNRC6B	HP:0001250	Seizure
23112	TNRC6B	HP:0001252	Hypotonia
23112	TNRC6B	HP:0001249	Intellectual disability
23112	TNRC6B	HP:0001263	Global developmental delay
23112	TNRC6B	HP:0002558	Supernumerary nipple
23112	TNRC6B	HP:0001382	Joint hypermobility
23112	TNRC6B	HP:0000023	Inguinal hernia
23112	TNRC6B	HP:0000028	Cryptorchidism
23112	TNRC6B	HP:0000006	Autosomal dominant inheritance
23112	TNRC6B	HP:0002023	Anal atresia
23112	TNRC6B	HP:0002194	Delayed gross motor development
23112	TNRC6B	HP:0007018	Attention deficit hyperactivity disorder
23112	TNRC6B	HP:0002360	Sleep disturbance
23112	TNRC6B	HP:0000750	Delayed speech and language development
23112	TNRC6B	HP:0000729	Autistic behavior
23112	TNRC6B	HP:0000826	Precocious puberty
23112	TNRC6B	HP:0000256	Macrocephaly
23112	TNRC6B	HP:0000252	Microcephaly
23112	TNRC6B	HP:0000219	Thin upper lip vermilion
23112	TNRC6B	HP:0000365	Hearing impairment
23112	TNRC6B	HP:0000347	Micrognathia
23112	TNRC6B	HP:0000325	Triangular face
23112	TNRC6B	HP:0000403	Recurrent otitis media
23112	TNRC6B	HP:0000494	Downslanted palpebral fissures
23114	NFASC	HP:0001187	Hyperextensibility of the finger joints
23114	NFASC	HP:0001276	Hypertonia
23114	NFASC	HP:0001272	Cerebellar atrophy
23114	NFASC	HP:0001250	Seizure
23114	NFASC	HP:0001252	Hypotonia
23114	NFASC	HP:0001251	Ataxia
23114	NFASC	HP:0001265	Hyporeflexia
23114	NFASC	HP:0001260	Dysarthria
23114	NFASC	HP:0001263	Global developmental delay
23114	NFASC	HP:0001347	Hyperreflexia
23114	NFASC	HP:0000007	Autosomal recessive inheritance
23114	NFASC	HP:0001336	Myoclonus
23114	NFASC	HP:0001310	Dysmetria
23114	NFASC	HP:0002643	Neonatal respiratory distress
23114	NFASC	HP:0000162	Glossoptosis
23114	NFASC	HP:0000175	Cleft palate
23114	NFASC	HP:0002080	Intention tremor
23114	NFASC	HP:0002093	Respiratory insufficiency
23114	NFASC	HP:0002075	Dysdiadochokinesis
23114	NFASC	HP:0003487	Babinski sign
23114	NFASC	HP:0004886	Congenital laryngeal stridor
23114	NFASC	HP:0002205	Recurrent respiratory infections
23114	NFASC	HP:0011968	Feeding difficulties
23114	NFASC	HP:0003623	Neonatal onset
23114	NFASC	HP:0031936	Delayed ability to walk
23114	NFASC	HP:0000762	Decreased nerve conduction velocity
23114	NFASC	HP:0000739	Anxiety
23114	NFASC	HP:0000718	Aggressive behavior
23114	NFASC	HP:0000878	11 pairs of ribs
23114	NFASC	HP:0000237	Small anterior fontanelle
23114	NFASC	HP:0000252	Microcephaly
23114	NFASC	HP:0001558	Decreased fetal movement
23114	NFASC	HP:0001508	Failure to thrive
23114	NFASC	HP:0000347	Micrognathia
23114	NFASC	HP:0000316	Hypertelorism
23114	NFASC	HP:0000431	Wide nasal bridge
23114	NFASC	HP:0000426	Prominent nasal bridge
23116	TOGARAM1	HP:0001161	Hand polydactyly
23116	TOGARAM1	HP:0025186	Marcus Gunn jaw winking synkinesis
23116	TOGARAM1	HP:0002419	Molar tooth sign on MRI
23116	TOGARAM1	HP:0001290	Generalized hypotonia
23116	TOGARAM1	HP:0001288	Gait disturbance
23116	TOGARAM1	HP:0001250	Seizure
23116	TOGARAM1	HP:0001252	Hypotonia
23116	TOGARAM1	HP:0001251	Ataxia
23116	TOGARAM1	HP:0001249	Intellectual disability
23116	TOGARAM1	HP:0001263	Global developmental delay
23116	TOGARAM1	HP:0008734	Decreased testicular size
23116	TOGARAM1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
23116	TOGARAM1	HP:0002553	Highly arched eyebrow
23116	TOGARAM1	HP:0000054	Micropenis
23116	TOGARAM1	HP:0001382	Joint hypermobility
23116	TOGARAM1	HP:0000028	Cryptorchidism
23116	TOGARAM1	HP:0008872	Feeding difficulties in infancy
23116	TOGARAM1	HP:0001344	Absent speech
23116	TOGARAM1	HP:0000007	Autosomal recessive inheritance
23116	TOGARAM1	HP:0001337	Tremor
23116	TOGARAM1	HP:0001320	Cerebellar vermis hypoplasia
23116	TOGARAM1	HP:0002650	Scoliosis
23116	TOGARAM1	HP:0002793	Abnormal pattern of respiration
23116	TOGARAM1	HP:0000126	Hydronephrosis
23116	TOGARAM1	HP:0002007	Frontal bossing
23116	TOGARAM1	HP:0003312	Abnormal form of the vertebral bodies
23116	TOGARAM1	HP:0002084	Encephalocele
23116	TOGARAM1	HP:0002079	Hypoplasia of the corpus callosum
23116	TOGARAM1	HP:0002126	Polymicrogyria
23116	TOGARAM1	HP:0002104	Apnea
23116	TOGARAM1	HP:0003593	Infantile onset
23116	TOGARAM1	HP:0002269	Abnormality of neuronal migration
23116	TOGARAM1	HP:0002240	Hepatomegaly
23116	TOGARAM1	HP:0002251	Aganglionic megacolon
23116	TOGARAM1	HP:0000639	Nystagmus
23116	TOGARAM1	HP:0000612	Iris coloboma
23116	TOGARAM1	HP:0000657	Oculomotor apraxia
23116	TOGARAM1	HP:0004322	Short stature
23116	TOGARAM1	HP:0030680	Abnormality of cardiovascular system morphology
23116	TOGARAM1	HP:0000729	Autistic behavior
23116	TOGARAM1	HP:0011461	Fetal onset
23116	TOGARAM1	HP:0004422	Biparietal narrowing
23116	TOGARAM1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
23116	TOGARAM1	HP:0100259	Postaxial polydactyly
23116	TOGARAM1	HP:0008070	Sparse hair
23116	TOGARAM1	HP:0000276	Long face
23116	TOGARAM1	HP:0000238	Hydrocephalus
23116	TOGARAM1	HP:0000218	High palate
23116	TOGARAM1	HP:0002876	Episodic tachypnea
23116	TOGARAM1	HP:0000202	Orofacial cleft
23116	TOGARAM1	HP:0001513	Obesity
23116	TOGARAM1	HP:0002938	Lumbar hyperlordosis
23116	TOGARAM1	HP:0001696	Situs inversus totalis
23116	TOGARAM1	HP:0000358	Posteriorly rotated ears
23116	TOGARAM1	HP:0000369	Low-set ears
23116	TOGARAM1	HP:0000316	Hypertelorism
23116	TOGARAM1	HP:0006610	Wide intermamillary distance
23116	TOGARAM1	HP:0000486	Strabismus
23116	TOGARAM1	HP:0000490	Deeply set eye
23116	TOGARAM1	HP:0000463	Anteverted nares
23116	TOGARAM1	HP:0000475	Broad neck
23116	TOGARAM1	HP:0000445	Wide nose
23116	TOGARAM1	HP:0000431	Wide nasal bridge
23116	TOGARAM1	HP:0000426	Prominent nasal bridge
23116	TOGARAM1	HP:0005487	Prominent metopic ridge
23116	TOGARAM1	HP:0001829	Foot polydactyly
23116	TOGARAM1	HP:0000508	Ptosis
23116	TOGARAM1	HP:0000568	Microphthalmia
23118	TAB2	HP:0001249	Intellectual disability
23118	TAB2	HP:0000006	Autosomal dominant inheritance
23118	TAB2	HP:0002750	Delayed skeletal maturation
23118	TAB2	HP:0004764	Myxomatous mitral valve degeneration
23118	TAB2	HP:0003577	Congenital onset
23118	TAB2	HP:0032092	Left ventricular outflow tract obstruction
23118	TAB2	HP:0004942	Aortic aneurysm
23118	TAB2	HP:0000678	Dental crowding
23118	TAB2	HP:0004322	Short stature
23118	TAB2	HP:0005692	Joint hyperflexibility
23118	TAB2	HP:0000951	Abnormality of the skin
23118	TAB2	HP:0011675	Arrhythmia
23118	TAB2	HP:0000276	Long face
23118	TAB2	HP:0000268	Dolichocephaly
23118	TAB2	HP:0005110	Atrial fibrillation
23118	TAB2	HP:0000218	High palate
23118	TAB2	HP:0000377	Abnormal pinna morphology
23118	TAB2	HP:0005180	Tricuspid regurgitation
23118	TAB2	HP:0000369	Low-set ears
23118	TAB2	HP:0001699	Sudden death
23118	TAB2	HP:0000337	Broad forehead
23118	TAB2	HP:0001682	Subvalvular aortic stenosis
23118	TAB2	HP:0000347	Micrognathia
23118	TAB2	HP:0001650	Aortic valve stenosis
23118	TAB2	HP:0001647	Bicuspid aortic valve
23118	TAB2	HP:0001642	Pulmonic stenosis
23118	TAB2	HP:0001659	Aortic regurgitation
23118	TAB2	HP:0001654	Abnormal heart valve morphology
23118	TAB2	HP:0000322	Short philtrum
23118	TAB2	HP:0001629	Ventricular septal defect
23118	TAB2	HP:0001636	Tetralogy of Fallot
23118	TAB2	HP:0001635	Congestive heart failure
23118	TAB2	HP:0001634	Mitral valve prolapse
23118	TAB2	HP:0000448	Prominent nose
23118	TAB2	HP:0000508	Ptosis
23126	POGZ	HP:0001156	Brachydactyly
23126	POGZ	HP:0008619	Bilateral sensorineural hearing impairment
23126	POGZ	HP:0010864	Intellectual disability, severe
23126	POGZ	HP:0001290	Generalized hypotonia
23126	POGZ	HP:0001272	Cerebellar atrophy
23126	POGZ	HP:0001270	Motor delay
23126	POGZ	HP:0001256	Intellectual disability, mild
23126	POGZ	HP:0001250	Seizure
23126	POGZ	HP:0001252	Hypotonia
23126	POGZ	HP:0001249	Intellectual disability
23126	POGZ	HP:0001263	Global developmental delay
23126	POGZ	HP:0002515	Waddling gait
23126	POGZ	HP:0000081	Duplicated collecting system
23126	POGZ	HP:0001388	Joint laxity
23126	POGZ	HP:0000023	Inguinal hernia
23126	POGZ	HP:0008872	Feeding difficulties in infancy
23126	POGZ	HP:0033725	Thin corpus callosum
23126	POGZ	HP:0001344	Absent speech
23126	POGZ	HP:0000006	Autosomal dominant inheritance
23126	POGZ	HP:0002645	Wormian bones
23126	POGZ	HP:0000194	Open mouth
23126	POGZ	HP:0000193	Bifid uvula
23126	POGZ	HP:0000160	Narrow mouth
23126	POGZ	HP:0012157	Subcortical cerebral atrophy
23126	POGZ	HP:0000175	Cleft palate
23126	POGZ	HP:0008947	Infantile muscular hypotonia
23126	POGZ	HP:0012110	Hypoplasia of the pons
23126	POGZ	HP:0002719	Recurrent infections
23126	POGZ	HP:0002714	Downturned corners of mouth
23126	POGZ	HP:0002721	Immunodeficiency
23126	POGZ	HP:0002020	Gastroesophageal reflux
23126	POGZ	HP:0002019	Constipation
23126	POGZ	HP:0002033	Poor suck
23126	POGZ	HP:0011800	Midface retrusion
23126	POGZ	HP:0002079	Hypoplasia of the corpus callosum
23126	POGZ	HP:0002059	Cerebral atrophy
23126	POGZ	HP:0002120	Cerebral cortical atrophy
23126	POGZ	HP:0002188	Delayed CNS myelination
23126	POGZ	HP:0002173	Hypoglycemic seizures
23126	POGZ	HP:0003593	Infantile onset
23126	POGZ	HP:0003577	Congenital onset
23126	POGZ	HP:0100716	Self-injurious behavior
23126	POGZ	HP:0002280	Enlarged cisterna magna
23126	POGZ	HP:0011968	Feeding difficulties
23126	POGZ	HP:0002384	Focal impaired awareness seizure
23126	POGZ	HP:0002360	Sleep disturbance
23126	POGZ	HP:0001045	Vitiligo
23126	POGZ	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
23126	POGZ	HP:0002353	EEG abnormality
23126	POGZ	HP:0008434	Hypoplastic cervical vertebrae
23126	POGZ	HP:0002311	Incoordination
23126	POGZ	HP:0006863	Severe expressive language delay
23126	POGZ	HP:0000639	Nystagmus
23126	POGZ	HP:0000649	Abnormality of visual evoked potentials
23126	POGZ	HP:0000648	Optic atrophy
23126	POGZ	HP:0000618	Blindness
23126	POGZ	HP:0000612	Iris coloboma
23126	POGZ	HP:0000609	Optic nerve hypoplasia
23126	POGZ	HP:0011304	Broad thumb
23126	POGZ	HP:0001999	Abnormal facial shape
23126	POGZ	HP:0004322	Short stature
23126	POGZ	HP:0000752	Hyperactivity
23126	POGZ	HP:0100025	Overfriendliness
23126	POGZ	HP:0100033	Tics
23126	POGZ	HP:0000737	Irritability
23126	POGZ	HP:0000739	Anxiety
23126	POGZ	HP:0000733	Abnormal repetitive mannerisms
23126	POGZ	HP:0000750	Delayed speech and language development
23126	POGZ	HP:0000718	Aggressive behavior
23126	POGZ	HP:0000729	Autistic behavior
23126	POGZ	HP:0000722	Compulsive behaviors
23126	POGZ	HP:0000776	Congenital diaphragmatic hernia
23126	POGZ	HP:0008070	Sparse hair
23126	POGZ	HP:0025573	Mild myopia
23126	POGZ	HP:0000297	Facial hypotonia
23126	POGZ	HP:0000272	Malar flattening
23126	POGZ	HP:0000252	Microcephaly
23126	POGZ	HP:0000248	Brachycephaly
23126	POGZ	HP:0000219	Thin upper lip vermilion
23126	POGZ	HP:0000218	High palate
23126	POGZ	HP:0000233	Thin vermilion border
23126	POGZ	HP:0002870	Obstructive sleep apnea
23126	POGZ	HP:0001508	Failure to thrive
23126	POGZ	HP:0001511	Intrauterine growth retardation
23126	POGZ	HP:0001513	Obesity
23126	POGZ	HP:0002933	Ventral hernia
23126	POGZ	HP:0011024	Abnormality of the gastrointestinal tract
23126	POGZ	HP:0000356	Abnormality of the outer ear
23126	POGZ	HP:0000358	Posteriorly rotated ears
23126	POGZ	HP:0000369	Low-set ears
23126	POGZ	HP:0000337	Broad forehead
23126	POGZ	HP:0000347	Micrognathia
23126	POGZ	HP:0000316	Hypertelorism
23126	POGZ	HP:0001643	Patent ductus arteriosus
23126	POGZ	HP:0000322	Short philtrum
23126	POGZ	HP:0001655	Patent foramen ovale
23126	POGZ	HP:0001627	Abnormal heart morphology
23126	POGZ	HP:0000307	Pointed chin
23126	POGZ	HP:0001631	Atrial septal defect
23126	POGZ	HP:0000303	Mandibular prognathia
23126	POGZ	HP:0000407	Sensorineural hearing impairment
23126	POGZ	HP:0005280	Depressed nasal bridge
23126	POGZ	HP:0000483	Astigmatism
23126	POGZ	HP:0000486	Strabismus
23126	POGZ	HP:0000494	Downslanted palpebral fissures
23126	POGZ	HP:0012448	Delayed myelination
23126	POGZ	HP:0012450	Chronic constipation
23126	POGZ	HP:0000455	Broad nasal tip
23126	POGZ	HP:0000470	Short neck
23126	POGZ	HP:0000437	Depressed nasal tip
23126	POGZ	HP:0001769	Broad foot
23126	POGZ	HP:0000510	Rod-cone dystrophy
23126	POGZ	HP:0000512	Abnormal electroretinogram
23126	POGZ	HP:0000505	Visual impairment
23126	POGZ	HP:0000582	Upslanted palpebral fissure
23126	POGZ	HP:0000577	Exotropia
23126	POGZ	HP:0000540	Hypermetropia
23126	POGZ	HP:0000545	Myopia
23129	PLXND1	HP:0001156	Brachydactyly
23129	PLXND1	HP:0001270	Motor delay
23129	PLXND1	HP:0001252	Hypotonia
23129	PLXND1	HP:0006101	Finger syndactyly
23129	PLXND1	HP:0031014	Arteria lusoria
23129	PLXND1	HP:0000044	Hypogonadotropic hypogonadism
23129	PLXND1	HP:0012020	Right aortic arch
23129	PLXND1	HP:0007565	Multiple cafe-au-lait spots
23129	PLXND1	HP:0008872	Feeding difficulties in infancy
23129	PLXND1	HP:0000194	Open mouth
23129	PLXND1	HP:0000175	Cleft palate
23129	PLXND1	HP:0002789	Tachypnea
23129	PLXND1	HP:0002015	Dysphagia
23129	PLXND1	HP:0002089	Pulmonary hypoplasia
23129	PLXND1	HP:0100598	Pulmonary edema
23129	PLXND1	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones
23129	PLXND1	HP:0002101	Abnormal lung lobation
23129	PLXND1	HP:0009601	Aplasia/Hypoplasia of the thumb
23129	PLXND1	HP:0100783	Breast aplasia
23129	PLXND1	HP:0010628	Facial palsy
23129	PLXND1	HP:0009804	Tooth agenesis
23129	PLXND1	HP:0009751	Aplasia of the pectoralis major muscle
23129	PLXND1	HP:0004971	Pulmonary artery hypoplasia
23129	PLXND1	HP:0004935	Pulmonary artery atresia
23129	PLXND1	HP:0004209	Clinodactyly of the 5th finger
23129	PLXND1	HP:0006824	Cranial nerve paralysis
23129	PLXND1	HP:0000602	Ophthalmoplegia
23129	PLXND1	HP:0000691	Microdontia
23129	PLXND1	HP:0001999	Abnormal facial shape
23129	PLXND1	HP:0000717	Autism
23129	PLXND1	HP:0000778	Hypoplasia of the thymus
23129	PLXND1	HP:0004415	Pulmonary artery stenosis
23129	PLXND1	HP:0004408	Abnormality of the sense of smell
23129	PLXND1	HP:0000849	Adrenocortical abnormality
23129	PLXND1	HP:0010295	Aplasia/Hypoplasia of the tongue
23129	PLXND1	HP:0040071	Abnormal morphology of ulna
23129	PLXND1	HP:0003202	Skeletal muscle atrophy
23129	PLXND1	HP:0045060	Aplasia/hypoplasia involving bones of the extremities
23129	PLXND1	HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta
23129	PLXND1	HP:0011640	Single coronary artery origin
23129	PLXND1	HP:0011611	Interrupted aortic arch
23129	PLXND1	HP:0000961	Cyanosis
23129	PLXND1	HP:0000286	Epicanthus
23129	PLXND1	HP:0000298	Mask-like facies
23129	PLXND1	HP:0025575	Abnormal superior vena cava morphology
23129	PLXND1	HP:0002804	Arthrogryposis multiplex congenita
23129	PLXND1	HP:0000218	High palate
23129	PLXND1	HP:0000232	Everted lower lip vermilion
23129	PLXND1	HP:0001522	Death in infancy
23129	PLXND1	HP:0001511	Intrauterine growth retardation
23129	PLXND1	HP:0006501	Aplasia/Hypoplasia of the radius
23129	PLXND1	HP:0001608	Abnormality of the voice
23129	PLXND1	HP:0000365	Hearing impairment
23129	PLXND1	HP:0001669	Transposition of the great arteries
23129	PLXND1	HP:0001667	Right ventricular hypertrophy
23129	PLXND1	HP:0000347	Micrognathia
23129	PLXND1	HP:0001649	Tachycardia
23129	PLXND1	HP:0001643	Patent ductus arteriosus
23129	PLXND1	HP:0001642	Pulmonic stenosis
23129	PLXND1	HP:0001660	Truncus arteriosus
23129	PLXND1	HP:0001659	Aortic regurgitation
23129	PLXND1	HP:0001654	Abnormal heart valve morphology
23129	PLXND1	HP:0001629	Ventricular septal defect
23129	PLXND1	HP:0001627	Abnormal heart morphology
23129	PLXND1	HP:0001640	Cardiomegaly
23129	PLXND1	HP:0001636	Tetralogy of Fallot
23129	PLXND1	HP:0001631	Atrial septal defect
23129	PLXND1	HP:0007957	Corneal opacity
23129	PLXND1	HP:0005301	Persistent left superior vena cava
23129	PLXND1	HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery
23129	PLXND1	HP:0000498	Blepharitis
23129	PLXND1	HP:0031653	Abnormal heart valve physiology
23129	PLXND1	HP:0004050	Absent hand
23129	PLXND1	HP:0000486	Strabismus
23129	PLXND1	HP:0001762	Talipes equinovarus
23129	PLXND1	HP:0006704	Abnormal coronary artery morphology
23129	PLXND1	HP:0000508	Ptosis
23129	PLXND1	HP:0000505	Visual impairment
23133	PHF8	HP:0001177	Preaxial hand polydactyly
23133	PHF8	HP:0001176	Large hands
23133	PHF8	HP:0001166	Arachnodactyly
23133	PHF8	HP:0001256	Intellectual disability, mild
23133	PHF8	HP:0001249	Intellectual disability
23133	PHF8	HP:0008734	Decreased testicular size
23133	PHF8	HP:0000028	Cryptorchidism
23133	PHF8	HP:0002650	Scoliosis
23133	PHF8	HP:0000175	Cleft palate
23133	PHF8	HP:0410030	Cleft lip
23133	PHF8	HP:0001419	X-linked recessive inheritance
23133	PHF8	HP:0002162	Low posterior hairline
23133	PHF8	HP:0010511	Long toe
23133	PHF8	HP:0000664	Synophrys
23133	PHF8	HP:0000750	Delayed speech and language development
23133	PHF8	HP:0000276	Long face
23133	PHF8	HP:0000252	Microcephaly
23133	PHF8	HP:0000202	Orofacial cleft
23133	PHF8	HP:0000204	Cleft upper lip
23133	PHF8	HP:0002942	Thoracic kyphosis
23133	PHF8	HP:0000340	Sloping forehead
23133	PHF8	HP:0000336	Prominent supraorbital ridges
23133	PHF8	HP:0000455	Broad nasal tip
23133	PHF8	HP:0001763	Pes planus
23133	PHF8	HP:0000582	Upslanted palpebral fissure
23135	KDM6B	HP:0001169	Broad palm
23135	KDM6B	HP:0001159	Syndactyly
23135	KDM6B	HP:0001270	Motor delay
23135	KDM6B	HP:0001252	Hypotonia
23135	KDM6B	HP:0001263	Global developmental delay
23135	KDM6B	HP:0002557	Hypoplastic nipples
23135	KDM6B	HP:0001382	Joint hypermobility
23135	KDM6B	HP:0000028	Cryptorchidism
23135	KDM6B	HP:0000006	Autosomal dominant inheritance
23135	KDM6B	HP:0000193	Bifid uvula
23135	KDM6B	HP:0000164	Abnormality of the dentition
23135	KDM6B	HP:0000154	Wide mouth
23135	KDM6B	HP:0003593	Infantile onset
23135	KDM6B	HP:0002384	Focal impaired awareness seizure
23135	KDM6B	HP:0001034	Hypermelanotic macule
23135	KDM6B	HP:0002360	Sleep disturbance
23135	KDM6B	HP:0001028	Hemangioma
23135	KDM6B	HP:0004209	Clinodactyly of the 5th finger
23135	KDM6B	HP:0000752	Hyperactivity
23135	KDM6B	HP:0000767	Pectus excavatum
23135	KDM6B	HP:0000750	Delayed speech and language development
23135	KDM6B	HP:0000729	Autistic behavior
23135	KDM6B	HP:0000957	Cafe-au-lait spot
23135	KDM6B	HP:0000286	Epicanthus
23135	KDM6B	HP:0000280	Coarse facial features
23135	KDM6B	HP:0000293	Full cheeks
23135	KDM6B	HP:0000268	Dolichocephaly
23135	KDM6B	HP:0011098	Speech apraxia
23135	KDM6B	HP:0000311	Round face
23135	KDM6B	HP:0000303	Mandibular prognathia
23135	KDM6B	HP:0000400	Macrotia
23135	KDM6B	HP:0005280	Depressed nasal bridge
23135	KDM6B	HP:0000486	Strabismus
23135	KDM6B	HP:0012471	Thick vermilion border
23135	KDM6B	HP:0000426	Prominent nasal bridge
23135	KDM6B	HP:0000506	Telecanthus
23135	KDM6B	HP:0000577	Exotropia
23135	KDM6B	HP:0011220	Prominent forehead
23135	KDM6B	HP:0000565	Esotropia
23141	ANKLE2	HP:0001181	Adducted thumb
23141	ANKLE2	HP:0010864	Intellectual disability, severe
23141	ANKLE2	HP:0009879	Simplified gyral pattern
23141	ANKLE2	HP:0001274	Agenesis of corpus callosum
23141	ANKLE2	HP:0001250	Seizure
23141	ANKLE2	HP:0001263	Global developmental delay
23141	ANKLE2	HP:0001257	Spasticity
23141	ANKLE2	HP:0007333	Hypoplasia of the frontal lobes
23141	ANKLE2	HP:0002510	Spastic tetraplegia
23141	ANKLE2	HP:0000076	Vesicoureteral reflux
23141	ANKLE2	HP:0001347	Hyperreflexia
23141	ANKLE2	HP:0000028	Cryptorchidism
23141	ANKLE2	HP:0000007	Autosomal recessive inheritance
23141	ANKLE2	HP:0001302	Pachygyria
23141	ANKLE2	HP:0000194	Open mouth
23141	ANKLE2	HP:0000122	Unilateral renal agenesis
23141	ANKLE2	HP:0002119	Ventriculomegaly
23141	ANKLE2	HP:0003577	Congenital onset
23141	ANKLE2	HP:0002282	Gray matter heterotopia
23141	ANKLE2	HP:0020073	Hypopigmented macule
23141	ANKLE2	HP:0001034	Hypermelanotic macule
23141	ANKLE2	HP:0002307	Drooling
23141	ANKLE2	HP:0004325	Decreased body weight
23141	ANKLE2	HP:0004322	Short stature
23141	ANKLE2	HP:0011451	Primary microcephaly
23141	ANKLE2	HP:0003103	Abnormal cortical bone morphology
23141	ANKLE2	HP:0006380	Knee flexion contracture
23141	ANKLE2	HP:0000252	Microcephaly
23141	ANKLE2	HP:0000219	Thin upper lip vermilion
23141	ANKLE2	HP:0001510	Growth delay
23141	ANKLE2	HP:0000340	Sloping forehead
23141	ANKLE2	HP:0000347	Micrognathia
23141	ANKLE2	HP:0000506	Telecanthus
23141	ANKLE2	HP:0000508	Ptosis
23141	ANKLE2	HP:0000501	Glaucoma
23141	ANKLE2	HP:0000582	Upslanted palpebral fissure
23149	FCHO1	HP:0002583	Colitis
23149	FCHO1	HP:0010976	B lymphocytopenia
23149	FCHO1	HP:0003819	Death in childhood
23149	FCHO1	HP:0000007	Autosomal recessive inheritance
23149	FCHO1	HP:0012191	B-cell lymphoma
23149	FCHO1	HP:0002716	Lymphadenopathy
23149	FCHO1	HP:0002028	Chronic diarrhea
23149	FCHO1	HP:0100501	Recurrent bronchiolitis
23149	FCHO1	HP:0003593	Infantile onset
23149	FCHO1	HP:0011463	Childhood onset
23149	FCHO1	HP:0001510	Growth delay
23149	FCHO1	HP:0006532	Recurrent pneumonia
23149	FCHO1	HP:0001744	Splenomegaly
23149	FCHO1	HP:0005403	T lymphocytopenia
23149	FCHO1	HP:0001888	Lymphopenia
23152	CIC	HP:0001166	Arachnodactyly
23152	CIC	HP:0002465	Poor speech
23152	CIC	HP:0001270	Motor delay
23152	CIC	HP:0001252	Hypotonia
23152	CIC	HP:0001249	Intellectual disability
23152	CIC	HP:0001263	Global developmental delay
23152	CIC	HP:0000006	Autosomal dominant inheritance
23152	CIC	HP:0001336	Myoclonus
23152	CIC	HP:0002650	Scoliosis
23152	CIC	HP:0002069	Bilateral tonic-clonic seizure
23152	CIC	HP:0002072	Chorea
23152	CIC	HP:0002121	Generalized non-motor (absence) seizure
23152	CIC	HP:0003593	Infantile onset
23152	CIC	HP:0007018	Attention deficit hyperactivity disorder
23152	CIC	HP:0002384	Focal impaired awareness seizure
23152	CIC	HP:0002360	Sleep disturbance
23152	CIC	HP:0002376	Developmental regression
23152	CIC	HP:0003623	Neonatal onset
23152	CIC	HP:0003621	Juvenile onset
23152	CIC	HP:0001998	Neonatal hypoglycemia
23152	CIC	HP:0000752	Hyperactivity
23152	CIC	HP:0100021	Cerebral palsy
23152	CIC	HP:0100023	Recurrent hand flapping
23152	CIC	HP:0000739	Anxiety
23152	CIC	HP:0000750	Delayed speech and language development
23152	CIC	HP:0000729	Autistic behavior
23152	CIC	HP:0011463	Childhood onset
23152	CIC	HP:0000988	Skin rash
23152	CIC	HP:0001533	Slender build
23152	CIC	HP:0032794	Myoclonic seizure
23152	CIC	HP:0001642	Pulmonic stenosis
23152	CIC	HP:0030148	Heart murmur
23152	CIC	HP:0001763	Pes planus
23154	NCDN	HP:0001249	Intellectual disability
23154	NCDN	HP:0007359	Focal-onset seizure
23154	NCDN	HP:0000006	Autosomal dominant inheritance
23154	NCDN	HP:0002188	Delayed CNS myelination
23154	NCDN	HP:0003593	Infantile onset
23154	NCDN	HP:0004322	Short stature
23154	NCDN	HP:0031936	Delayed ability to walk
23154	NCDN	HP:0000750	Delayed speech and language development
23154	NCDN	HP:0000286	Epicanthus
23154	NCDN	HP:0000218	High palate
23154	NCDN	HP:0011097	Epileptic spasm
23154	NCDN	HP:0032794	Myoclonic seizure
23154	NCDN	HP:0000316	Hypertelorism
23154	NCDN	HP:0000565	Esotropia
23155	CLCC1	HP:0000007	Autosomal recessive inheritance
23155	CLCC1	HP:0007663	Reduced visual acuity
23155	CLCC1	HP:0000613	Photophobia
23155	CLCC1	HP:0000662	Nyctalopia
23155	CLCC1	HP:0030609	Photoreceptor layer loss on macular OCT
23155	CLCC1	HP:0007737	Bone spicule pigmentation of the retina
23155	CLCC1	HP:0007843	Attenuation of retinal blood vessels
23155	CLCC1	HP:0000580	Pigmentary retinopathy
23155	CLCC1	HP:0000550	Undetectable electroretinogram
23155	CLCC1	HP:0000546	Retinal degeneration
23155	CLCC1	HP:0000543	Optic disc pallor
23162	MAPK8IP3	HP:0001272	Cerebellar atrophy
23162	MAPK8IP3	HP:0001252	Hypotonia
23162	MAPK8IP3	HP:0001251	Ataxia
23162	MAPK8IP3	HP:0001249	Intellectual disability
23162	MAPK8IP3	HP:0001263	Global developmental delay
23162	MAPK8IP3	HP:0001257	Spasticity
23162	MAPK8IP3	HP:0001238	Slender finger
23162	MAPK8IP3	HP:0002540	Inability to walk
23162	MAPK8IP3	HP:0000006	Autosomal dominant inheritance
23162	MAPK8IP3	HP:0002650	Scoliosis
23162	MAPK8IP3	HP:0001321	Cerebellar hypoplasia
23162	MAPK8IP3	HP:0000160	Narrow mouth
23162	MAPK8IP3	HP:0500041	Myopic astigmatism
23162	MAPK8IP3	HP:0002020	Gastroesophageal reflux
23162	MAPK8IP3	HP:0003307	Hyperlordosis
23162	MAPK8IP3	HP:0002079	Hypoplasia of the corpus callosum
23162	MAPK8IP3	HP:0002059	Cerebral atrophy
23162	MAPK8IP3	HP:0002197	Generalized-onset seizure
23162	MAPK8IP3	HP:0003593	Infantile onset
23162	MAPK8IP3	HP:0002240	Hepatomegaly
23162	MAPK8IP3	HP:0100704	Cerebral visual impairment
23162	MAPK8IP3	HP:0002317	Unsteady gait
23162	MAPK8IP3	HP:0200055	Small hand
23162	MAPK8IP3	HP:0004209	Clinodactyly of the 5th finger
23162	MAPK8IP3	HP:0000639	Nystagmus
23162	MAPK8IP3	HP:0012650	Perisylvian polymicrogyria
23162	MAPK8IP3	HP:0000668	Hypodontia
23162	MAPK8IP3	HP:0000664	Synophrys
23162	MAPK8IP3	HP:0004322	Short stature
23162	MAPK8IP3	HP:0031936	Delayed ability to walk
23162	MAPK8IP3	HP:0000712	Emotional lability
23162	MAPK8IP3	HP:0000729	Autistic behavior
23162	MAPK8IP3	HP:0011463	Childhood onset
23162	MAPK8IP3	HP:0009237	Short 5th finger
23162	MAPK8IP3	HP:0045025	Narrow palpebral fissure
23162	MAPK8IP3	HP:0008081	Pes valgus
23162	MAPK8IP3	HP:0040183	Encopresis
23162	MAPK8IP3	HP:0000293	Full cheeks
23162	MAPK8IP3	HP:0000276	Long face
23162	MAPK8IP3	HP:0002808	Kyphosis
23162	MAPK8IP3	HP:0001572	Macrodontia
23162	MAPK8IP3	HP:0000252	Microcephaly
23162	MAPK8IP3	HP:0000219	Thin upper lip vermilion
23162	MAPK8IP3	HP:0000218	High palate
23162	MAPK8IP3	HP:0002857	Genu valgum
23162	MAPK8IP3	HP:0001513	Obesity
23162	MAPK8IP3	HP:0002944	Thoracolumbar scoliosis
23162	MAPK8IP3	HP:0000369	Low-set ears
23162	MAPK8IP3	HP:0000343	Long philtrum
23162	MAPK8IP3	HP:0000347	Micrognathia
23162	MAPK8IP3	HP:0000316	Hypertelorism
23162	MAPK8IP3	HP:0000311	Round face
23162	MAPK8IP3	HP:0000322	Short philtrum
23162	MAPK8IP3	HP:0000486	Strabismus
23162	MAPK8IP3	HP:0000490	Deeply set eye
23162	MAPK8IP3	HP:0000463	Anteverted nares
23162	MAPK8IP3	HP:0012448	Delayed myelination
23162	MAPK8IP3	HP:0001773	Short foot
23162	MAPK8IP3	HP:0000411	Protruding ear
23162	MAPK8IP3	HP:0000426	Prominent nasal bridge
23162	MAPK8IP3	HP:0000582	Upslanted palpebral fissure
23162	MAPK8IP3	HP:0000574	Thick eyebrow
23165	NUP205	HP:0003774	Stage 5 chronic kidney disease
23165	NUP205	HP:0002586	Peritonitis
23165	NUP205	HP:0000097	Focal segmental glomerulosclerosis
23165	NUP205	HP:0000093	Proteinuria
23165	NUP205	HP:0000007	Autosomal recessive inheritance
23165	NUP205	HP:0002027	Abdominal pain
23165	NUP205	HP:0100539	Periorbital edema
23165	NUP205	HP:0011947	Respiratory tract infection
23165	NUP205	HP:0002315	Headache
23165	NUP205	HP:0012622	Chronic kidney disease
23165	NUP205	HP:0001967	Diffuse mesangial sclerosis
23165	NUP205	HP:0001945	Fever
23165	NUP205	HP:0003073	Hypoalbuminemia
23165	NUP205	HP:0000737	Irritability
23165	NUP205	HP:0000707	Abnormality of the nervous system
23165	NUP205	HP:0000969	Edema
23165	NUP205	HP:0031504	Foamy urine
23165	NUP205	HP:0012588	Steroid-resistant nephrotic syndrome
23165	NUP205	HP:0012579	Minimal change glomerulonephritis
23169	SLC35D1	HP:0001156	Brachydactyly
23169	SLC35D1	HP:0001231	Abnormal fingernail morphology
23169	SLC35D1	HP:0031026	Snail-like ilia
23169	SLC35D1	HP:0003826	Stillbirth
23169	SLC35D1	HP:0000028	Cryptorchidism
23169	SLC35D1	HP:0008873	Disproportionate short-limb short stature
23169	SLC35D1	HP:0000007	Autosomal recessive inheritance
23169	SLC35D1	HP:0000175	Cleft palate
23169	SLC35D1	HP:0005019	Diaphyseal thickening
23169	SLC35D1	HP:0012107	Increased fibular diameter
23169	SLC35D1	HP:0003312	Abnormal form of the vertebral bodies
23169	SLC35D1	HP:0003300	Ovoid vertebral bodies
23169	SLC35D1	HP:0011800	Midface retrusion
23169	SLC35D1	HP:0008108	Advanced tarsal ossification
23169	SLC35D1	HP:0001004	Lymphedema
23169	SLC35D1	HP:0009826	Limb undergrowth
23169	SLC35D1	HP:0008479	Hypoplastic vertebral bodies
23169	SLC35D1	HP:0008450	Narrow vertebral interpedicular distance
23169	SLC35D1	HP:0004233	Advanced ossification of carpal bones
23169	SLC35D1	HP:0005616	Accelerated skeletal maturation
23169	SLC35D1	HP:0003038	Fibular hypoplasia
23169	SLC35D1	HP:0003026	Short long bone
23169	SLC35D1	HP:0003025	Metaphyseal irregularity
23169	SLC35D1	HP:0011461	Fetal onset
23169	SLC35D1	HP:0000774	Narrow chest
23169	SLC35D1	HP:0000773	Short ribs
23169	SLC35D1	HP:0003196	Short nose
23169	SLC35D1	HP:0000926	Platyspondyly
23169	SLC35D1	HP:0003180	Flat acetabular roof
23169	SLC35D1	HP:0000907	Anterior rib cupping
23169	SLC35D1	HP:0000882	Hypoplastic scapulae
23169	SLC35D1	HP:0000895	Lateral clavicle hook
23169	SLC35D1	HP:0000947	Dumbbell-shaped long bone
23169	SLC35D1	HP:0000946	Hypoplastic ilia
23169	SLC35D1	HP:0000944	Abnormal metaphysis morphology
23169	SLC35D1	HP:0000256	Macrocephaly
23169	SLC35D1	HP:0000272	Malar flattening
23169	SLC35D1	HP:0000268	Dolichocephaly
23169	SLC35D1	HP:0001561	Polyhydramnios
23169	SLC35D1	HP:0001537	Umbilical hernia
23169	SLC35D1	HP:0001538	Protuberant abdomen
23169	SLC35D1	HP:0005257	Thoracic hypoplasia
23169	SLC35D1	HP:0002983	Micromelia
23169	SLC35D1	HP:0001790	Nonimmune hydrops fetalis
23169	SLC35D1	HP:0000470	Short neck
23169	SLC35D1	HP:0001776	Bilateral talipes equinovarus
23169	SLC35D1	HP:0001800	Hypoplastic toenails
23171	GPD1L	HP:0001279	Syncope
23171	GPD1L	HP:0000006	Autosomal dominant inheritance
23171	GPD1L	HP:0011715	Trifascicular block
23171	GPD1L	HP:0011712	Right bundle branch block
23171	GPD1L	HP:0011704	Sick sinus syndrome
23171	GPD1L	HP:0011705	First degree atrioventricular block
23171	GPD1L	HP:0004755	Supraventricular tachycardia
23171	GPD1L	HP:0004751	Paroxysmal ventricular tachycardia
23171	GPD1L	HP:0004308	Ventricular arrhythmia
23171	GPD1L	HP:0012248	Prolonged PR interval
23171	GPD1L	HP:0012251	ST segment elevation
23171	GPD1L	HP:0001695	Cardiac arrest
23171	GPD1L	HP:0001649	Tachycardia
23171	GPD1L	HP:0001645	Sudden cardiac death
23171	GPD1L	HP:0001663	Ventricular fibrillation
23175	LPIN1	HP:0010969	Abnormality of glycolipid metabolism
23175	LPIN1	HP:0003738	Exercise-induced myalgia
23175	LPIN1	HP:0001284	Areflexia
23175	LPIN1	HP:0001265	Hyporeflexia
23175	LPIN1	HP:0007340	Lower limb muscle weakness
23175	LPIN1	HP:0000083	Renal insufficiency
23175	LPIN1	HP:0001324	Muscle weakness
23175	LPIN1	HP:0000007	Autosomal recessive inheritance
23175	LPIN1	HP:0001315	Reduced tendon reflexes
23175	LPIN1	HP:0025435	Increased circulating lactate dehydrogenase concentration
23175	LPIN1	HP:0008997	Proximal muscle weakness in upper limbs
23175	LPIN1	HP:0008942	Acute rhabdomyolysis
23175	LPIN1	HP:0040319	Dark urine
23175	LPIN1	HP:0003326	Myalgia
23175	LPIN1	HP:0003394	Muscle spasm
23175	LPIN1	HP:0100520	Oliguria
23175	LPIN1	HP:0002153	Hyperkalemia
23175	LPIN1	HP:0002167	Abnormality of speech or vocalization
23175	LPIN1	HP:0003554	Type 2 muscle fiber atrophy
23175	LPIN1	HP:0003558	Viral infection-induced rhabdomyolysis
23175	LPIN1	HP:0008305	Exercise-induced myoglobinuria
23175	LPIN1	HP:0002355	Difficulty walking
23175	LPIN1	HP:0003652	Recurrent myoglobinuria
23175	LPIN1	HP:0100614	Myositis
23175	LPIN1	HP:0003621	Juvenile onset
23175	LPIN1	HP:0005521	Disseminated intravascular coagulation
23175	LPIN1	HP:0001945	Fever
23175	LPIN1	HP:0001919	Acute kidney injury
23175	LPIN1	HP:0011463	Childhood onset
23175	LPIN1	HP:0003236	Elevated circulating creatine kinase concentration
23175	LPIN1	HP:0045037	Abnormality of jaw muscles
23175	LPIN1	HP:0011675	Arrhythmia
23175	LPIN1	HP:0005216	Impaired mastication
23175	LPIN1	HP:0030195	Fatigable weakness of swallowing muscles
23175	LPIN1	HP:0002913	Myoglobinuria
23175	LPIN1	HP:0002910	Elevated hepatic transaminase
23175	LPIN1	HP:0002905	Hyperphosphatemia
23175	LPIN1	HP:0002901	Hypocalcemia
23175	LPIN1	HP:0030234	Highly elevated creatine kinase
23175	LPIN1	HP:0000467	Neck muscle weakness
23175	LPIN1	HP:0012544	Elevated circulating aldolase concentration
23184	MESD	HP:0009901	Crumpled ear
23184	MESD	HP:0001263	Global developmental delay
23184	MESD	HP:0002553	Highly arched eyebrow
23184	MESD	HP:0001357	Plagiocephaly
23184	MESD	HP:0008873	Disproportionate short-limb short stature
23184	MESD	HP:0000007	Autosomal recessive inheritance
23184	MESD	HP:0002645	Wormian bones
23184	MESD	HP:0000189	Narrow palate
23184	MESD	HP:0006349	Agenesis of permanent teeth
23184	MESD	HP:0002751	Kyphoscoliosis
23184	MESD	HP:0011800	Midface retrusion
23184	MESD	HP:0002194	Delayed gross motor development
23184	MESD	HP:0010804	Tented upper lip vermilion
23184	MESD	HP:0000750	Delayed speech and language development
23184	MESD	HP:0000774	Narrow chest
23184	MESD	HP:0005855	Multiple prenatal fractures
23184	MESD	HP:0008070	Sparse hair
23184	MESD	HP:0000278	Retrognathia
23184	MESD	HP:0000252	Microcephaly
23184	MESD	HP:0000248	Brachycephaly
23184	MESD	HP:0000218	High palate
23184	MESD	HP:0001555	Asymmetry of the thorax
23184	MESD	HP:0001511	Intrauterine growth retardation
23184	MESD	HP:0000358	Posteriorly rotated ears
23184	MESD	HP:0000369	Low-set ears
23184	MESD	HP:0002953	Vertebral compression fracture
23184	MESD	HP:0000307	Pointed chin
23184	MESD	HP:0000303	Mandibular prognathia
23184	MESD	HP:0005338	Sparse lateral eyebrow
23184	MESD	HP:0000414	Bulbous nose
23184	MESD	HP:0000592	Blue sclerae
23189	KANK1	HP:0001252	Hypotonia
23189	KANK1	HP:0001249	Intellectual disability
23189	KANK1	HP:0002510	Spastic tetraplegia
23189	KANK1	HP:0002059	Cerebral atrophy
23189	KANK1	HP:0002119	Ventriculomegaly
23189	KANK1	HP:0003577	Congenital onset
23189	KANK1	HP:0000639	Nystagmus
23189	KANK1	HP:0100021	Cerebral palsy
23189	KANK1	HP:0012275	Autosomal dominant inheritance with maternal imprinting
23193	GANAB	HP:0003774	Stage 5 chronic kidney disease
23193	GANAB	HP:0000083	Renal insufficiency
23193	GANAB	HP:0000010	Recurrent urinary tract infections
23193	GANAB	HP:0000006	Autosomal dominant inheritance
23193	GANAB	HP:0002616	Aortic root aneurysm
23193	GANAB	HP:0000113	Polycystic kidney dysplasia
23193	GANAB	HP:0000107	Renal cyst
23193	GANAB	HP:0000105	Enlarged kidney
23193	GANAB	HP:0001410	Decreased liver function
23193	GANAB	HP:0001407	Hepatic cysts
23193	GANAB	HP:0011760	Pituitary growth hormone cell adenoma
23193	GANAB	HP:0003596	Middle age onset
23193	GANAB	HP:0100702	Arachnoid cyst
23193	GANAB	HP:0003584	Late onset
23193	GANAB	HP:0003621	Juvenile onset
23193	GANAB	HP:0004944	Dilatation of the cerebral artery
23193	GANAB	HP:0012622	Chronic kidney disease
23193	GANAB	HP:0011462	Young adult onset
23193	GANAB	HP:0000790	Hematuria
23193	GANAB	HP:0000787	Nephrolithiasis
23193	GANAB	HP:0000822	Hypertension
23193	GANAB	HP:0003259	Elevated circulating creatinine concentration
23193	GANAB	HP:0012213	Decreased glomerular filtration rate
23193	GANAB	HP:0012207	Reduced sperm motility
23193	GANAB	HP:0006557	Polycystic liver disease
23193	GANAB	HP:0011004	Abnormal systemic arterial morphology
23193	GANAB	HP:0012330	Pyelonephritis
23193	GANAB	HP:0001634	Mitral valve prolapse
23193	GANAB	HP:0001737	Pancreatic cysts
23193	GANAB	HP:0012591	Abnormal urinary electrolyte concentration
23193	GANAB	HP:0012592	Albuminuria
23193	GANAB	HP:0012531	Pain
23203	PMPCA	HP:0001152	Saccadic smooth pursuit
23203	PMPCA	HP:0007272	Progressive psychomotor deterioration
23203	PMPCA	HP:0001290	Generalized hypotonia
23203	PMPCA	HP:0001272	Cerebellar atrophy
23203	PMPCA	HP:0001252	Hypotonia
23203	PMPCA	HP:0001251	Ataxia
23203	PMPCA	HP:0001249	Intellectual disability
23203	PMPCA	HP:0001265	Hyporeflexia
23203	PMPCA	HP:0001260	Dysarthria
23203	PMPCA	HP:0001263	Global developmental delay
23203	PMPCA	HP:0001257	Spasticity
23203	PMPCA	HP:0002506	Diffuse cerebral atrophy
23203	PMPCA	HP:0001348	Brisk reflexes
23203	PMPCA	HP:0001347	Hyperreflexia
23203	PMPCA	HP:0001324	Muscle weakness
23203	PMPCA	HP:0000007	Autosomal recessive inheritance
23203	PMPCA	HP:0001337	Tremor
23203	PMPCA	HP:0001310	Dysmetria
23203	PMPCA	HP:0001321	Cerebellar hypoplasia
23203	PMPCA	HP:0100543	Cognitive impairment
23203	PMPCA	HP:0002066	Gait ataxia
23203	PMPCA	HP:0002070	Limb ataxia
23203	PMPCA	HP:0002198	Dilated fourth ventricle
23203	PMPCA	HP:0002171	Gliosis
23203	PMPCA	HP:0003593	Infantile onset
23203	PMPCA	HP:0002275	Poor motor coordination
23203	PMPCA	HP:0002280	Enlarged cisterna magna
23203	PMPCA	HP:0003680	Nonprogressive
23203	PMPCA	HP:0002317	Unsteady gait
23203	PMPCA	HP:0009830	Peripheral neuropathy
23203	PMPCA	HP:0010794	Impaired visuospatial constructive cognition
23203	PMPCA	HP:0002311	Incoordination
23203	PMPCA	HP:0006855	Cerebellar vermis atrophy
23203	PMPCA	HP:0000640	Gaze-evoked nystagmus
23203	PMPCA	HP:0000639	Nystagmus
23203	PMPCA	HP:0000602	Ophthalmoplegia
23203	PMPCA	HP:0000657	Oculomotor apraxia
23203	PMPCA	HP:0004322	Short stature
23203	PMPCA	HP:0031936	Delayed ability to walk
23203	PMPCA	HP:0000750	Delayed speech and language development
23203	PMPCA	HP:0003128	Lactic acidosis
23203	PMPCA	HP:0001763	Pes planus
23203	PMPCA	HP:0001761	Pes cavus
23204	ARL6IP1	HP:0001271	Polyneuropathy
23204	ARL6IP1	HP:0001249	Intellectual disability
23204	ARL6IP1	HP:0001258	Spastic paraplegia
23204	ARL6IP1	HP:0001257	Spasticity
23204	ARL6IP1	HP:0002540	Inability to walk
23204	ARL6IP1	HP:0000007	Autosomal recessive inheritance
23204	ARL6IP1	HP:0003438	Absent Achilles reflex
23204	ARL6IP1	HP:0007083	Hyperactive patellar reflex
23204	ARL6IP1	HP:0002355	Difficulty walking
23204	ARL6IP1	HP:0007178	Motor polyneuropathy
23204	ARL6IP1	HP:0000763	Sensory neuropathy
23204	ARL6IP1	HP:0011463	Childhood onset
23204	ARL6IP1	HP:0005109	Abnormality of the Achilles tendon
23204	ARL6IP1	HP:0002815	Abnormality of the knee
23204	ARL6IP1	HP:0012407	Scissor gait
23209	MLC1	HP:0001270	Motor delay
23209	MLC1	HP:0001256	Intellectual disability, mild
23209	MLC1	HP:0001250	Seizure
23209	MLC1	HP:0001251	Ataxia
23209	MLC1	HP:0001257	Spasticity
23209	MLC1	HP:0007341	Diffuse swelling of cerebral white matter
23209	MLC1	HP:0001355	Megalencephaly
23209	MLC1	HP:0000007	Autosomal recessive inheritance
23209	MLC1	HP:0003593	Infantile onset
23209	MLC1	HP:0006943	Diffuse spongiform leukoencephalopathy
23209	MLC1	HP:0000256	Macrocephaly
23218	NBEAL2	HP:0000007	Autosomal recessive inheritance
23218	NBEAL2	HP:0012147	Reduced quantity of Von Willebrand factor
23218	NBEAL2	HP:0000140	Abnormality of the menstrual cycle
23218	NBEAL2	HP:0000132	Menorrhagia
23218	NBEAL2	HP:0011872	Impaired thrombin-induced platelet aggregation
23218	NBEAL2	HP:0011974	Myelofibrosis
23218	NBEAL2	HP:0008330	Reduced von Willebrand factor activity
23218	NBEAL2	HP:0008320	Impaired collagen-induced platelet aggregation
23218	NBEAL2	HP:0003676	Progressive
23218	NBEAL2	HP:0003010	Prolonged bleeding time
23218	NBEAL2	HP:0000978	Bruising susceptibility
23218	NBEAL2	HP:0002863	Myelodysplasia
23218	NBEAL2	HP:0001744	Splenomegaly
23218	NBEAL2	HP:0000421	Epistaxis
23218	NBEAL2	HP:0001892	Abnormal bleeding
23218	NBEAL2	HP:0001872	Abnormality of thrombocytes
23218	NBEAL2	HP:0012528	Abnormal number of alpha granules
23218	NBEAL2	HP:0001873	Thrombocytopenia
23219	FBXO28	HP:0001156	Brachydactyly
23219	FBXO28	HP:0010852	EEG with photoparoxysmal response
23219	FBXO28	HP:0001284	Areflexia
23219	FBXO28	HP:0001250	Seizure
23219	FBXO28	HP:0001252	Hypotonia
23219	FBXO28	HP:0001249	Intellectual disability
23219	FBXO28	HP:0001265	Hyporeflexia
23219	FBXO28	HP:0001266	Choreoathetosis
23219	FBXO28	HP:0001263	Global developmental delay
23219	FBXO28	HP:0031045	Acral blistering
23219	FBXO28	HP:0007359	Focal-onset seizure
23219	FBXO28	HP:0033725	Thin corpus callosum
23219	FBXO28	HP:0000006	Autosomal dominant inheritance
23219	FBXO28	HP:0001336	Myoclonus
23219	FBXO28	HP:0001302	Pachygyria
23219	FBXO28	HP:0002650	Scoliosis
23219	FBXO28	HP:0008936	Axial hypotonia
23219	FBXO28	HP:0006297	Enamel hypoplasia
23219	FBXO28	HP:0002020	Gastroesophageal reflux
23219	FBXO28	HP:0002015	Dysphagia
23219	FBXO28	HP:0002069	Bilateral tonic-clonic seizure
23219	FBXO28	HP:0002066	Gait ataxia
23219	FBXO28	HP:0002072	Chorea
23219	FBXO28	HP:0002059	Cerebral atrophy
23219	FBXO28	HP:0002119	Ventriculomegaly
23219	FBXO28	HP:0002126	Polymicrogyria
23219	FBXO28	HP:0002188	Delayed CNS myelination
23219	FBXO28	HP:0010536	Central sleep apnea
23219	FBXO28	HP:0002205	Recurrent respiratory infections
23219	FBXO28	HP:0002280	Enlarged cisterna magna
23219	FBXO28	HP:0001028	Hemangioma
23219	FBXO28	HP:0002376	Developmental regression
23219	FBXO28	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
23219	FBXO28	HP:0100660	Dyskinesia
23219	FBXO28	HP:0010804	Tented upper lip vermilion
23219	FBXO28	HP:0010808	Protruding tongue
23219	FBXO28	HP:0200055	Small hand
23219	FBXO28	HP:0002307	Drooling
23219	FBXO28	HP:0000691	Microdontia
23219	FBXO28	HP:0000664	Synophrys
23219	FBXO28	HP:0005619	Thoracolumbar kyphosis
23219	FBXO28	HP:0005617	Bilateral camptodactyly
23219	FBXO28	HP:0012745	Short palpebral fissure
23219	FBXO28	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
23219	FBXO28	HP:0000954	Single transverse palmar crease
23219	FBXO28	HP:0000218	High palate
23219	FBXO28	HP:0000212	Gingival overgrowth
23219	FBXO28	HP:0032667	Myoclonic status epilepticus
23219	FBXO28	HP:0001558	Decreased fetal movement
23219	FBXO28	HP:0002870	Obstructive sleep apnea
23219	FBXO28	HP:0002835	Aspiration
23219	FBXO28	HP:0012389	Appendicular hypotonia
23219	FBXO28	HP:0032792	Tonic seizure
23219	FBXO28	HP:0000347	Micrognathia
23219	FBXO28	HP:0032794	Myoclonic seizure
23219	FBXO28	HP:0002987	Elbow flexion contracture
23219	FBXO28	HP:0011147	Typical absence seizure
23219	FBXO28	HP:0005280	Depressed nasal bridge
23219	FBXO28	HP:0000486	Strabismus
23219	FBXO28	HP:0012469	Infantile spasms
23219	FBXO28	HP:0012444	Brain atrophy
23219	FBXO28	HP:0012450	Chronic constipation
23219	FBXO28	HP:0000455	Broad nasal tip
23219	FBXO28	HP:0001804	Hypoplastic fingernail
23219	FBXO28	HP:0000565	Esotropia
23219	FBXO28	HP:0000549	Abnormal conjugate eye movement
23221	RHOBTB2	HP:0001290	Generalized hypotonia
23221	RHOBTB2	HP:0001269	Hemiparesis
23221	RHOBTB2	HP:0001250	Seizure
23221	RHOBTB2	HP:0001249	Intellectual disability
23221	RHOBTB2	HP:0001263	Global developmental delay
23221	RHOBTB2	HP:0002540	Inability to walk
23221	RHOBTB2	HP:0003828	Variable expressivity
23221	RHOBTB2	HP:0002509	Limb hypertonia
23221	RHOBTB2	HP:0001332	Dystonia
23221	RHOBTB2	HP:0001344	Absent speech
23221	RHOBTB2	HP:0000006	Autosomal dominant inheritance
23221	RHOBTB2	HP:0001321	Cerebellar hypoplasia
23221	RHOBTB2	HP:0002079	Hypoplasia of the corpus callosum
23221	RHOBTB2	HP:0002072	Chorea
23221	RHOBTB2	HP:0002120	Cerebral cortical atrophy
23221	RHOBTB2	HP:0002119	Ventriculomegaly
23221	RHOBTB2	HP:0002133	Status epilepticus
23221	RHOBTB2	HP:0002376	Developmental regression
23221	RHOBTB2	HP:0001999	Abnormal facial shape
23221	RHOBTB2	HP:0000286	Epicanthus
23221	RHOBTB2	HP:0000252	Microcephaly
23221	RHOBTB2	HP:0000219	Thin upper lip vermilion
23221	RHOBTB2	HP:0000347	Micrognathia
23221	RHOBTB2	HP:0000319	Smooth philtrum
23221	RHOBTB2	HP:0000400	Macrotia
23221	RHOBTB2	HP:0005280	Depressed nasal bridge
23221	RHOBTB2	HP:0012448	Delayed myelination
23224	SYNE2	HP:0002486	Myotonia
23224	SYNE2	HP:0003701	Proximal muscle weakness
23224	SYNE2	HP:0001288	Gait disturbance
23224	SYNE2	HP:0001252	Hypotonia
23224	SYNE2	HP:0001249	Intellectual disability
23224	SYNE2	HP:0002515	Waddling gait
23224	SYNE2	HP:0003805	Rimmed vacuoles
23224	SYNE2	HP:0001387	Joint stiffness
23224	SYNE2	HP:0000006	Autosomal dominant inheritance
23224	SYNE2	HP:0002650	Scoliosis
23224	SYNE2	HP:0001315	Reduced tendon reflexes
23224	SYNE2	HP:0008994	Proximal muscle weakness in lower limbs
23224	SYNE2	HP:0008997	Proximal muscle weakness in upper limbs
23224	SYNE2	HP:0008948	Proximal upper limb amyotrophy
23224	SYNE2	HP:0008956	Proximal lower limb amyotrophy
23224	SYNE2	HP:0002747	Respiratory insufficiency due to muscle weakness
23224	SYNE2	HP:0003307	Hyperlordosis
23224	SYNE2	HP:0003306	Spinal rigidity
23224	SYNE2	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
23224	SYNE2	HP:0011807	Type 1 muscle fiber atrophy
23224	SYNE2	HP:0002093	Respiratory insufficiency
23224	SYNE2	HP:0002155	Hypertriglyceridemia
23224	SYNE2	HP:0003458	EMG: myopathic abnormalities
23224	SYNE2	HP:0003418	Back pain
23224	SYNE2	HP:0003560	Muscular dystrophy
23224	SYNE2	HP:0003557	Increased variability in muscle fiber diameter
23224	SYNE2	HP:0003691	Scapular winging
23224	SYNE2	HP:0003687	Centrally nucleated skeletal muscle fibers
23224	SYNE2	HP:0007126	Proximal amyotrophy
23224	SYNE2	HP:0003621	Juvenile onset
23224	SYNE2	HP:0000767	Pectus excavatum
23224	SYNE2	HP:0011463	Childhood onset
23224	SYNE2	HP:0009125	Lipodystrophy
23224	SYNE2	HP:0003198	Myopathy
23224	SYNE2	HP:0000912	Sprengel anomaly
23224	SYNE2	HP:0003141	Increased LDL cholesterol concentration
23224	SYNE2	HP:0003236	Elevated circulating creatine kinase concentration
23224	SYNE2	HP:0008064	Ichthyosis
23224	SYNE2	HP:0011675	Arrhythmia
23224	SYNE2	HP:0005115	Supraventricular arrhythmia
23224	SYNE2	HP:0002808	Kyphosis
23224	SYNE2	HP:0030051	Tip-toe gait
23224	SYNE2	HP:0001513	Obesity
23224	SYNE2	HP:0001605	Vocal cord paralysis
23224	SYNE2	HP:0005155	Ventricular escape rhythm
23224	SYNE2	HP:0030117	Absent muscle fiber emerin
23224	SYNE2	HP:0001678	Atrioventricular block
23224	SYNE2	HP:0001645	Sudden cardiac death
23224	SYNE2	HP:0001644	Dilated cardiomyopathy
23224	SYNE2	HP:0002987	Elbow flexion contracture
23224	SYNE2	HP:0001639	Hypertrophic cardiomyopathy
23224	SYNE2	HP:0001638	Cardiomyopathy
23224	SYNE2	HP:0001771	Achilles tendon contracture
23224	SYNE2	HP:0006785	Limb-girdle muscular dystrophy
23224	SYNE2	HP:0000508	Ptosis
23229	ARHGEF9	HP:0010864	Intellectual disability, severe
23229	ARHGEF9	HP:0001276	Hypertonia
23229	ARHGEF9	HP:0001263	Global developmental delay
23229	ARHGEF9	HP:0007333	Hypoplasia of the frontal lobes
23229	ARHGEF9	HP:0003819	Death in childhood
23229	ARHGEF9	HP:0012018	EEG with temporal focal spikes
23229	ARHGEF9	HP:0001419	X-linked recessive inheritance
23229	ARHGEF9	HP:0002069	Bilateral tonic-clonic seizure
23229	ARHGEF9	HP:0002267	Exaggerated startle response
23229	ARHGEF9	HP:0003593	Infantile onset
23229	ARHGEF9	HP:0003577	Congenital onset
23229	ARHGEF9	HP:0200134	Epileptic encephalopathy
23229	ARHGEF9	HP:0002384	Focal impaired awareness seizure
23229	ARHGEF9	HP:0002376	Developmental regression
23229	ARHGEF9	HP:0010818	Generalized tonic seizure
23229	ARHGEF9	HP:0006821	Frontal polymicrogyria
23229	ARHGEF9	HP:0011463	Childhood onset
23229	ARHGEF9	HP:0000243	Trigonocephaly
23229	ARHGEF9	HP:0001548	Overgrowth
23229	ARHGEF9	HP:0032792	Tonic seizure
23230	VPS13A	HP:0002487	Hyperkinetic movements
23230	VPS13A	HP:0002495	Impaired vibratory sensation
23230	VPS13A	HP:0025100	Abnormal hippocampus morphology
23230	VPS13A	HP:0002460	Distal muscle weakness
23230	VPS13A	HP:0002451	Limb dystonia
23230	VPS13A	HP:0007326	Progressive choreoathetosis
23230	VPS13A	HP:0003763	Bruxism
23230	VPS13A	HP:0001276	Hypertonia
23230	VPS13A	HP:0001268	Mental deterioration
23230	VPS13A	HP:0002599	Head titubation
23230	VPS13A	HP:0001284	Areflexia
23230	VPS13A	HP:0001250	Seizure
23230	VPS13A	HP:0001265	Hyporeflexia
23230	VPS13A	HP:0001260	Dysarthria
23230	VPS13A	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements
23230	VPS13A	HP:0002527	Falls
23230	VPS13A	HP:0002505	Loss of ambulation
23230	VPS13A	HP:0031008	Lingual dystonia
23230	VPS13A	HP:0012048	Oromandibular dystonia
23230	VPS13A	HP:0012049	Laryngeal dystonia
23230	VPS13A	HP:0001369	Arthritis
23230	VPS13A	HP:0025331	Upgaze palsy
23230	VPS13A	HP:0001350	Slurred speech
23230	VPS13A	HP:0001332	Dystonia
23230	VPS13A	HP:0000007	Autosomal recessive inheritance
23230	VPS13A	HP:0001315	Reduced tendon reflexes
23230	VPS13A	HP:0001300	Parkinsonism
23230	VPS13A	HP:0025479	Self-neglect
23230	VPS13A	HP:0012167	Hair-pulling
23230	VPS13A	HP:0012168	Head-banging
23230	VPS13A	HP:0025435	Increased circulating lactate dehydrogenase concentration
23230	VPS13A	HP:0025402	Square-wave jerks
23230	VPS13A	HP:0002015	Dysphagia
23230	VPS13A	HP:0002069	Bilateral tonic-clonic seizure
23230	VPS13A	HP:0002067	Bradykinesia
23230	VPS13A	HP:0002072	Chorea
23230	VPS13A	HP:0003380	Decreased number of peripheral myelinated nerve fibers
23230	VPS13A	HP:0008110	Equinovarus deformity
23230	VPS13A	HP:0003477	Peripheral axonal neuropathy
23230	VPS13A	HP:0002120	Cerebral cortical atrophy
23230	VPS13A	HP:0003445	EMG: neuropathic changes
23230	VPS13A	HP:0003438	Absent Achilles reflex
23230	VPS13A	HP:0002275	Poor motor coordination
23230	VPS13A	HP:0002240	Hepatomegaly
23230	VPS13A	HP:0100716	Self-injurious behavior
23230	VPS13A	HP:0011999	Paranoia
23230	VPS13A	HP:0007078	Decreased amplitude of sensory action potentials
23230	VPS13A	HP:0003693	Distal amyotrophy
23230	VPS13A	HP:0002360	Sleep disturbance
23230	VPS13A	HP:0003690	Limb muscle weakness
23230	VPS13A	HP:0003676	Progressive
23230	VPS13A	HP:0002340	Caudate atrophy
23230	VPS13A	HP:0002322	Resting tremor
23230	VPS13A	HP:0010808	Protruding tongue
23230	VPS13A	HP:0002310	Orofacial dyskinesia
23230	VPS13A	HP:0002307	Drooling
23230	VPS13A	HP:0031843	Bradyphrenia
23230	VPS13A	HP:0000643	Blepharospasm
23230	VPS13A	HP:0001927	Acanthocytosis
23230	VPS13A	HP:0012697	Small basal ganglia
23230	VPS13A	HP:0009049	Peroneal muscle atrophy
23230	VPS13A	HP:0012675	Iron accumulation in brain
23230	VPS13A	HP:0031956	Elevated circulating aspartate aminotransferase concentration
23230	VPS13A	HP:0004302	Functional motor deficit
23230	VPS13A	HP:0031964	Elevated circulating alanine aminotransferase concentration
23230	VPS13A	HP:0006956	Lateral ventricle dilatation
23230	VPS13A	HP:0004305	Involuntary movements
23230	VPS13A	HP:0031982	Abnormal putamen morphology
23230	VPS13A	HP:0006913	Frontal cortical atrophy
23230	VPS13A	HP:0031908	Micrographia
23230	VPS13A	HP:0000752	Hyperactivity
23230	VPS13A	HP:0000751	Personality changes
23230	VPS13A	HP:0000763	Sensory neuropathy
23230	VPS13A	HP:0100035	Phonic tics
23230	VPS13A	HP:0100033	Tics
23230	VPS13A	HP:0100034	Motor tics
23230	VPS13A	HP:0000737	Irritability
23230	VPS13A	HP:0000739	Anxiety
23230	VPS13A	HP:0000734	Disinhibition
23230	VPS13A	HP:0000736	Short attention span
23230	VPS13A	HP:0000741	Apathy
23230	VPS13A	HP:0000716	Depression
23230	VPS13A	HP:0000718	Aggressive behavior
23230	VPS13A	HP:0000712	Emotional lability
23230	VPS13A	HP:0000726	Dementia
23230	VPS13A	HP:0000722	Compulsive behaviors
23230	VPS13A	HP:0000709	Psychosis
23230	VPS13A	HP:0000708	Atypical behavior
23230	VPS13A	HP:0003198	Myopathy
23230	VPS13A	HP:0003236	Elevated circulating creatine kinase concentration
23230	VPS13A	HP:0003202	Skeletal muscle atrophy
23230	VPS13A	HP:0100295	Muscle fiber atrophy
23230	VPS13A	HP:0025517	Hypoplastic hippocampus
23230	VPS13A	HP:0012332	Abnormal autonomic nervous system physiology
23230	VPS13A	HP:0001644	Dilated cardiomyopathy
23230	VPS13A	HP:0012479	Temporomandibular joint crepitus
23230	VPS13A	HP:0000496	Abnormality of eye movement
23230	VPS13A	HP:0030220	Socially inappropriate behavior
23230	VPS13A	HP:0030272	Abnormal erythrocyte enzyme level
23230	VPS13A	HP:0001744	Splenomegaly
23230	VPS13A	HP:0001761	Pes cavus
23230	VPS13A	HP:0000514	Slow saccadic eye movements
23230	VPS13A	HP:0001824	Weight loss
23233	EXOC6B	HP:0001182	Tapered finger
23233	EXOC6B	HP:0001249	Intellectual disability
23233	EXOC6B	HP:0100864	Short femoral neck
23233	EXOC6B	HP:0001216	Delayed ossification of carpal bones
23233	EXOC6B	HP:0001377	Limited elbow extension
23233	EXOC6B	HP:0001385	Hip dysplasia
23233	EXOC6B	HP:0001388	Joint laxity
23233	EXOC6B	HP:0012095	Multiple joint dislocation
23233	EXOC6B	HP:0002659	Increased susceptibility to fractures
23233	EXOC6B	HP:0000007	Autosomal recessive inheritance
23233	EXOC6B	HP:0002650	Scoliosis
23233	EXOC6B	HP:0002651	Spondyloepimetaphyseal dysplasia
23233	EXOC6B	HP:0001498	Carpal bone hypoplasia
23233	EXOC6B	HP:0000175	Cleft palate
23233	EXOC6B	HP:0002751	Kyphoscoliosis
23233	EXOC6B	HP:0003301	Irregular vertebral endplates
23233	EXOC6B	HP:0009465	Ulnar deviation of finger
23233	EXOC6B	HP:0005930	Abnormal epiphysis morphology
23233	EXOC6B	HP:0003468	Abnormal vertebral morphology
23233	EXOC6B	HP:0003577	Congenital onset
23233	EXOC6B	HP:0004976	Knee dislocation
23233	EXOC6B	HP:0009811	Abnormality of the elbow
23233	EXOC6B	HP:0008450	Narrow vertebral interpedicular distance
23233	EXOC6B	HP:0011341	Long upper lip
23233	EXOC6B	HP:0001999	Abnormal facial shape
23233	EXOC6B	HP:0004322	Short stature
23233	EXOC6B	HP:0003083	Dislocated radial head
23233	EXOC6B	HP:0003015	Flared metaphysis
23233	EXOC6B	HP:0003025	Metaphyseal irregularity
23233	EXOC6B	HP:0031936	Delayed ability to walk
23233	EXOC6B	HP:0003022	Hypoplasia of the ulna
23233	EXOC6B	HP:0000768	Pectus carinatum
23233	EXOC6B	HP:0000926	Platyspondyly
23233	EXOC6B	HP:0000883	Thin ribs
23233	EXOC6B	HP:0004568	Beaking of vertebral bodies
23233	EXOC6B	HP:0000974	Hyperextensible skin
23233	EXOC6B	HP:0000946	Hypoplastic ilia
23233	EXOC6B	HP:0000944	Abnormal metaphysis morphology
23233	EXOC6B	HP:0000268	Dolichocephaly
23233	EXOC6B	HP:0006439	Radioulnar dislocation
23233	EXOC6B	HP:0002827	Hip dislocation
23233	EXOC6B	HP:0000218	High palate
23233	EXOC6B	HP:0001508	Failure to thrive
23233	EXOC6B	HP:0001513	Obesity
23233	EXOC6B	HP:0006543	Cardiorespiratory arrest
23233	EXOC6B	HP:0000365	Hearing impairment
23233	EXOC6B	HP:0002999	Patellar dislocation
23233	EXOC6B	HP:0000347	Micrognathia
23233	EXOC6B	HP:0002987	Elbow flexion contracture
23233	EXOC6B	HP:0001627	Abnormal heart morphology
23233	EXOC6B	HP:0000470	Short neck
23233	EXOC6B	HP:0001763	Pes planus
23233	EXOC6B	HP:0001762	Talipes equinovarus
23233	EXOC6B	HP:0000520	Proptosis
23233	EXOC6B	HP:0000592	Blue sclerae
23236	PLCB1	HP:0001257	Spasticity
23236	PLCB1	HP:0007359	Focal-onset seizure
23236	PLCB1	HP:0002521	Hypsarrhythmia
23236	PLCB1	HP:0001347	Hyperreflexia
23236	PLCB1	HP:0000007	Autosomal recessive inheritance
23236	PLCB1	HP:0001336	Myoclonus
23236	PLCB1	HP:0008936	Axial hypotonia
23236	PLCB1	HP:0002069	Bilateral tonic-clonic seizure
23236	PLCB1	HP:0003593	Infantile onset
23236	PLCB1	HP:0200134	Epileptic encephalopathy
23236	PLCB1	HP:0002376	Developmental regression
23236	PLCB1	HP:0000707	Abnormality of the nervous system
23236	PLCB1	HP:0011097	Epileptic spasm
23236	PLCB1	HP:0032792	Tonic seizure
23236	PLCB1	HP:0012469	Infantile spasms
23236	PLCB1	HP:0011121	Abnormality of skin morphology
23241	PACS2	HP:0020221	Clonic seizure
23241	PACS2	HP:0001250	Seizure
23241	PACS2	HP:0001252	Hypotonia
23241	PACS2	HP:0001249	Intellectual disability
23241	PACS2	HP:0001263	Global developmental delay
23241	PACS2	HP:0007359	Focal-onset seizure
23241	PACS2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
23241	PACS2	HP:0000028	Cryptorchidism
23241	PACS2	HP:0000006	Autosomal dominant inheritance
23241	PACS2	HP:0001320	Cerebellar vermis hypoplasia
23241	PACS2	HP:0000154	Wide mouth
23241	PACS2	HP:0002714	Downturned corners of mouth
23241	PACS2	HP:0002069	Bilateral tonic-clonic seizure
23241	PACS2	HP:0002136	Broad-based gait
23241	PACS2	HP:0002133	Status epilepticus
23241	PACS2	HP:0002266	Focal clonic seizure
23241	PACS2	HP:0003593	Infantile onset
23241	PACS2	HP:0200134	Epileptic encephalopathy
23241	PACS2	HP:0002280	Enlarged cisterna magna
23241	PACS2	HP:0010818	Generalized tonic seizure
23241	PACS2	HP:0003623	Neonatal onset
23241	PACS2	HP:0004209	Clinodactyly of the 5th finger
23241	PACS2	HP:0000639	Nystagmus
23241	PACS2	HP:0001903	Anemia
23241	PACS2	HP:0000675	Macrodontia of permanent maxillary central incisor
23241	PACS2	HP:0000687	Widely spaced teeth
23241	PACS2	HP:0000664	Synophrys
23241	PACS2	HP:0031936	Delayed ability to walk
23241	PACS2	HP:0000750	Delayed speech and language development
23241	PACS2	HP:0000729	Autistic behavior
23241	PACS2	HP:0000280	Coarse facial features
23241	PACS2	HP:0000219	Thin upper lip vermilion
23241	PACS2	HP:0000232	Everted lower lip vermilion
23241	PACS2	HP:0032792	Tonic seizure
23241	PACS2	HP:0001651	Dextrocardia
23241	PACS2	HP:0032794	Myoclonic seizure
23241	PACS2	HP:0000316	Hypertelorism
23241	PACS2	HP:0001629	Ventricular septal defect
23241	PACS2	HP:0001631	Atrial septal defect
23241	PACS2	HP:0011167	Focal tonic seizure
23241	PACS2	HP:0000483	Astigmatism
23241	PACS2	HP:0000486	Strabismus
23241	PACS2	HP:0000494	Downslanted palpebral fissures
23241	PACS2	HP:0000431	Wide nasal bridge
23241	PACS2	HP:0000540	Hypermetropia
23241	PACS2	HP:0000545	Myopia
23241	PACS2	HP:0001875	Neutropenia
23247	KATNIP	HP:0001161	Hand polydactyly
23247	KATNIP	HP:0001290	Generalized hypotonia
23247	KATNIP	HP:0001288	Gait disturbance
23247	KATNIP	HP:0001250	Seizure
23247	KATNIP	HP:0001252	Hypotonia
23247	KATNIP	HP:0001251	Ataxia
23247	KATNIP	HP:0001249	Intellectual disability
23247	KATNIP	HP:0001263	Global developmental delay
23247	KATNIP	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
23247	KATNIP	HP:0002553	Highly arched eyebrow
23247	KATNIP	HP:0000054	Micropenis
23247	KATNIP	HP:0008872	Feeding difficulties in infancy
23247	KATNIP	HP:0000007	Autosomal recessive inheritance
23247	KATNIP	HP:0001337	Tremor
23247	KATNIP	HP:0001320	Cerebellar vermis hypoplasia
23247	KATNIP	HP:0002650	Scoliosis
23247	KATNIP	HP:0000175	Cleft palate
23247	KATNIP	HP:0410030	Cleft lip
23247	KATNIP	HP:0002793	Abnormal pattern of respiration
23247	KATNIP	HP:0002788	Recurrent upper respiratory tract infections
23247	KATNIP	HP:0002007	Frontal bossing
23247	KATNIP	HP:0003312	Abnormal form of the vertebral bodies
23247	KATNIP	HP:0002084	Encephalocele
23247	KATNIP	HP:0011787	Central hypothyroidism
23247	KATNIP	HP:0002126	Polymicrogyria
23247	KATNIP	HP:0002104	Apnea
23247	KATNIP	HP:0002269	Abnormality of neuronal migration
23247	KATNIP	HP:0003577	Congenital onset
23247	KATNIP	HP:0002251	Aganglionic megacolon
23247	KATNIP	HP:0000639	Nystagmus
23247	KATNIP	HP:0000612	Iris coloboma
23247	KATNIP	HP:0000657	Oculomotor apraxia
23247	KATNIP	HP:0004322	Short stature
23247	KATNIP	HP:0030680	Abnormality of cardiovascular system morphology
23247	KATNIP	HP:0004422	Biparietal narrowing
23247	KATNIP	HP:0000871	Panhypopituitarism
23247	KATNIP	HP:0000864	Abnormality of the hypothalamus-pituitary axis
23247	KATNIP	HP:0000824	Decreased response to growth hormone stimulation test
23247	KATNIP	HP:0000276	Long face
23247	KATNIP	HP:0000238	Hydrocephalus
23247	KATNIP	HP:0002876	Episodic tachypnea
23247	KATNIP	HP:0000202	Orofacial cleft
23247	KATNIP	HP:0001696	Situs inversus totalis
23247	KATNIP	HP:0000369	Low-set ears
23247	KATNIP	HP:0000316	Hypertelorism
23247	KATNIP	HP:0000486	Strabismus
23247	KATNIP	HP:0000463	Anteverted nares
23247	KATNIP	HP:0000426	Prominent nasal bridge
23247	KATNIP	HP:0001829	Foot polydactyly
23247	KATNIP	HP:0000508	Ptosis
23250	ATP11A	HP:0025175	Honeycomb lung
23250	ATP11A	HP:0025179	Ground-glass opacification
23250	ATP11A	HP:0002415	Leukodystrophy
23250	ATP11A	HP:0001284	Areflexia
23250	ATP11A	HP:0001250	Seizure
23250	ATP11A	HP:0001263	Global developmental delay
23250	ATP11A	HP:0010976	B lymphocytopenia
23250	ATP11A	HP:0025352	Typically de novo
23250	ATP11A	HP:0001371	Flexion contracture
23250	ATP11A	HP:0025390	Reticular pattern on pulmonary HRCT
23250	ATP11A	HP:0033725	Thin corpus callosum
23250	ATP11A	HP:0000006	Autosomal dominant inheritance
23250	ATP11A	HP:0001308	Tongue fasciculations
23250	ATP11A	HP:0002020	Gastroesophageal reflux
23250	ATP11A	HP:0002059	Cerebral atrophy
23250	ATP11A	HP:0010444	Pulmonary insufficiency
23250	ATP11A	HP:0003477	Peripheral axonal neuropathy
23250	ATP11A	HP:0002119	Ventriculomegaly
23250	ATP11A	HP:0003431	Decreased motor nerve conduction velocity
23250	ATP11A	HP:0002110	Bronchiectasis
23250	ATP11A	HP:0002206	Pulmonary fibrosis
23250	ATP11A	HP:0100759	Clubbing of fingers
23250	ATP11A	HP:0003510	Severe short stature
23250	ATP11A	HP:0002376	Developmental regression
23250	ATP11A	HP:0003676	Progressive
23250	ATP11A	HP:0003623	Neonatal onset
23250	ATP11A	HP:0003621	Juvenile onset
23250	ATP11A	HP:0012735	Cough
23250	ATP11A	HP:0012704	Widened subarachnoid space
23250	ATP11A	HP:0011463	Childhood onset
23250	ATP11A	HP:0011462	Young adult onset
23250	ATP11A	HP:0000821	Hypothyroidism
23250	ATP11A	HP:0030830	Crackles
23250	ATP11A	HP:0000252	Microcephaly
23250	ATP11A	HP:0002875	Exertional dyspnea
23250	ATP11A	HP:0006530	Abnormal pulmonary interstitial morphology
23250	ATP11A	HP:0000407	Sensorineural hearing impairment
23250	ATP11A	HP:0000518	Cataract
23258	DENND5A	HP:0001250	Seizure
23258	DENND5A	HP:0001257	Spasticity
23258	DENND5A	HP:0002514	Cerebral calcification
23258	DENND5A	HP:0001347	Hyperreflexia
23258	DENND5A	HP:0001344	Absent speech
23258	DENND5A	HP:0000007	Autosomal recessive inheritance
23258	DENND5A	HP:0001336	Myoclonus
23258	DENND5A	HP:0001305	Dandy-Walker malformation
23258	DENND5A	HP:0000194	Open mouth
23258	DENND5A	HP:0008936	Axial hypotonia
23258	DENND5A	HP:0002007	Frontal bossing
23258	DENND5A	HP:0002119	Ventriculomegaly
23258	DENND5A	HP:0200134	Epileptic encephalopathy
23258	DENND5A	HP:0002353	EEG abnormality
23258	DENND5A	HP:0000648	Optic atrophy
23258	DENND5A	HP:0012736	Profound global developmental delay
23258	DENND5A	HP:0000280	Coarse facial features
23258	DENND5A	HP:0000238	Hydrocephalus
23258	DENND5A	HP:0000252	Microcephaly
23258	DENND5A	HP:0000215	Thick upper lip vermilion
23258	DENND5A	HP:0000322	Short philtrum
23258	DENND5A	HP:0000400	Macrotia
23258	DENND5A	HP:0000448	Prominent nose
23258	DENND5A	HP:0000527	Long eyelashes
23259	DDHD2	HP:0001288	Gait disturbance
23259	DDHD2	HP:0001249	Intellectual disability
23259	DDHD2	HP:0001260	Dysarthria
23259	DDHD2	HP:0001263	Global developmental delay
23259	DDHD2	HP:0001258	Spastic paraplegia
23259	DDHD2	HP:0007340	Lower limb muscle weakness
23259	DDHD2	HP:0000020	Urinary incontinence
23259	DDHD2	HP:0001347	Hyperreflexia
23259	DDHD2	HP:0000007	Autosomal recessive inheritance
23259	DDHD2	HP:0002607	Bowel incontinence
23259	DDHD2	HP:0008959	Distal upper limb muscle weakness
23259	DDHD2	HP:0002019	Constipation
23259	DDHD2	HP:0002015	Dysphagia
23259	DDHD2	HP:0003396	Syringomyelia
23259	DDHD2	HP:0002063	Rigidity
23259	DDHD2	HP:0002064	Spastic gait
23259	DDHD2	HP:0002079	Hypoplasia of the corpus callosum
23259	DDHD2	HP:0003487	Babinski sign
23259	DDHD2	HP:0008366	Foot joint contracture
23259	DDHD2	HP:0003676	Progressive
23259	DDHD2	HP:0000609	Optic nerve hypoplasia
23259	DDHD2	HP:0009053	Distal lower limb muscle weakness
23259	DDHD2	HP:0004322	Short stature
23259	DDHD2	HP:0006986	Upper limb spasticity
23259	DDHD2	HP:0006970	Periventricular leukomalacia
23259	DDHD2	HP:0011463	Childhood onset
23259	DDHD2	HP:0030891	Periventricular white matter hyperintensities
23259	DDHD2	HP:0007766	Optic disc hypoplasia
23259	DDHD2	HP:0000218	High palate
23259	DDHD2	HP:0030051	Tip-toe gait
23259	DDHD2	HP:0000338	Hypomimic face
23259	DDHD2	HP:0000486	Strabismus
23259	DDHD2	HP:0001761	Pes cavus
23259	DDHD2	HP:0000506	Telecanthus
23261	CAMTA1	HP:0002470	Nonprogressive cerebellar ataxia
23261	CAMTA1	HP:0410170	Hippocampal atrophy
23261	CAMTA1	HP:0007256	Abnormal pyramidal sign
23261	CAMTA1	HP:0002403	Positive Romberg sign
23261	CAMTA1	HP:0001256	Intellectual disability, mild
23261	CAMTA1	HP:0001250	Seizure
23261	CAMTA1	HP:0001251	Ataxia
23261	CAMTA1	HP:0001249	Intellectual disability
23261	CAMTA1	HP:0001260	Dysarthria
23261	CAMTA1	HP:0001263	Global developmental delay
23261	CAMTA1	HP:0002536	Abnormal cortical gyration
23261	CAMTA1	HP:0001348	Brisk reflexes
23261	CAMTA1	HP:0000006	Autosomal dominant inheritance
23261	CAMTA1	HP:0001310	Dysmetria
23261	CAMTA1	HP:0002650	Scoliosis
23261	CAMTA1	HP:0001321	Cerebellar hypoplasia
23261	CAMTA1	HP:0001319	Neonatal hypotonia
23261	CAMTA1	HP:0000179	Thick lower lip vermilion
23261	CAMTA1	HP:0000160	Narrow mouth
23261	CAMTA1	HP:0008936	Axial hypotonia
23261	CAMTA1	HP:0002714	Downturned corners of mouth
23261	CAMTA1	HP:0002020	Gastroesophageal reflux
23261	CAMTA1	HP:0002019	Constipation
23261	CAMTA1	HP:0002036	Hiatus hernia
23261	CAMTA1	HP:0002003	Large forehead
23261	CAMTA1	HP:0100540	Palpebral edema
23261	CAMTA1	HP:0002080	Intention tremor
23261	CAMTA1	HP:0002069	Bilateral tonic-clonic seizure
23261	CAMTA1	HP:0002066	Gait ataxia
23261	CAMTA1	HP:0010485	Hyperextensibility at elbow
23261	CAMTA1	HP:0002120	Cerebral cortical atrophy
23261	CAMTA1	HP:0002136	Broad-based gait
23261	CAMTA1	HP:0003593	Infantile onset
23261	CAMTA1	HP:0002236	Frontal upsweep of hair
23261	CAMTA1	HP:0007015	Poor gross motor coordination
23261	CAMTA1	HP:0007018	Attention deficit hyperactivity disorder
23261	CAMTA1	HP:0002378	Hand tremor
23261	CAMTA1	HP:0002354	Memory impairment
23261	CAMTA1	HP:0002317	Unsteady gait
23261	CAMTA1	HP:0002307	Drooling
23261	CAMTA1	HP:0004279	Short palm
23261	CAMTA1	HP:0000639	Nystagmus
23261	CAMTA1	HP:0004322	Short stature
23261	CAMTA1	HP:0400005	Short ear
23261	CAMTA1	HP:0000752	Hyperactivity
23261	CAMTA1	HP:0000750	Delayed speech and language development
23261	CAMTA1	HP:0000718	Aggressive behavior
23261	CAMTA1	HP:0000729	Autistic behavior
23261	CAMTA1	HP:0005768	2-4 toe cutaneous syndactyly
23261	CAMTA1	HP:0005709	2-3 toe cutaneous syndactyly
23261	CAMTA1	HP:0000256	Macrocephaly
23261	CAMTA1	HP:0000276	Long face
23261	CAMTA1	HP:0000218	High palate
23261	CAMTA1	HP:0025517	Hypoplastic hippocampus
23261	CAMTA1	HP:0000233	Thin vermilion border
23261	CAMTA1	HP:0011067	Mesiodens
23261	CAMTA1	HP:0000358	Posteriorly rotated ears
23261	CAMTA1	HP:0000369	Low-set ears
23261	CAMTA1	HP:0000343	Long philtrum
23261	CAMTA1	HP:0000337	Broad forehead
23261	CAMTA1	HP:0000347	Micrognathia
23261	CAMTA1	HP:0000316	Hypertelorism
23261	CAMTA1	HP:0000307	Pointed chin
23261	CAMTA1	HP:0011170	Generalized myoclonic-atonic seizure
23261	CAMTA1	HP:0011166	Focal myoclonic seizure
23261	CAMTA1	HP:0000483	Astigmatism
23261	CAMTA1	HP:0000486	Strabismus
23261	CAMTA1	HP:0000494	Downslanted palpebral fissures
23261	CAMTA1	HP:0000490	Deeply set eye
23261	CAMTA1	HP:0000463	Anteverted nares
23261	CAMTA1	HP:0012450	Chronic constipation
23261	CAMTA1	HP:0000454	Flared nostrils
23261	CAMTA1	HP:0012433	Abnormal social behavior
23261	CAMTA1	HP:0000445	Wide nose
23261	CAMTA1	HP:0000414	Bulbous nose
23261	CAMTA1	HP:0000411	Protruding ear
23261	CAMTA1	HP:0000527	Long eyelashes
23261	CAMTA1	HP:0000545	Myopia
23262	PPIP5K2	HP:0000007	Autosomal recessive inheritance
23262	PPIP5K2	HP:0000407	Sensorineural hearing impairment
23262	PPIP5K2	HP:0001751	Abnormal vestibular function
23265	EXOC7	HP:0009879	Simplified gyral pattern
23265	EXOC7	HP:0001263	Global developmental delay
23265	EXOC7	HP:0007359	Focal-onset seizure
23265	EXOC7	HP:0000007	Autosomal recessive inheritance
23265	EXOC7	HP:0001321	Cerebellar hypoplasia
23265	EXOC7	HP:0002079	Hypoplasia of the corpus callosum
23265	EXOC7	HP:0002120	Cerebral cortical atrophy
23265	EXOC7	HP:0003593	Infantile onset
23265	EXOC7	HP:0003577	Congenital onset
23265	EXOC7	HP:0002365	Hypoplasia of the brainstem
23265	EXOC7	HP:0012695	Decreased thalamic volume
23265	EXOC7	HP:0011463	Childhood onset
23265	EXOC7	HP:0011461	Fetal onset
23265	EXOC7	HP:0000278	Retrognathia
23265	EXOC7	HP:0002804	Arthrogryposis multiplex congenita
23265	EXOC7	HP:0000252	Microcephaly
23265	EXOC7	HP:0000218	High palate
23265	EXOC7	HP:0000369	Low-set ears
23265	EXOC7	HP:0000343	Long philtrum
23265	EXOC7	HP:0032794	Myoclonic seizure
23265	EXOC7	HP:0001838	Rocker bottom foot
23268	DNMBP	HP:0012043	Pendular nystagmus
23268	DNMBP	HP:0000007	Autosomal recessive inheritance
23268	DNMBP	HP:0007663	Reduced visual acuity
23268	DNMBP	HP:0003577	Congenital onset
23268	DNMBP	HP:0000646	Amblyopia
23268	DNMBP	HP:0000616	Miosis
23268	DNMBP	HP:0000518	Cataract
23268	DNMBP	HP:0000577	Exotropia
23279	NUP160	HP:0003774	Stage 5 chronic kidney disease
23279	NUP160	HP:0002586	Peritonitis
23279	NUP160	HP:0000097	Focal segmental glomerulosclerosis
23279	NUP160	HP:0000093	Proteinuria
23279	NUP160	HP:0000007	Autosomal recessive inheritance
23279	NUP160	HP:0002027	Abdominal pain
23279	NUP160	HP:0100539	Periorbital edema
23279	NUP160	HP:0011947	Respiratory tract infection
23279	NUP160	HP:0003676	Progressive
23279	NUP160	HP:0002315	Headache
23279	NUP160	HP:0003621	Juvenile onset
23279	NUP160	HP:0012625	Stage 3 chronic kidney disease
23279	NUP160	HP:0012622	Chronic kidney disease
23279	NUP160	HP:0001967	Diffuse mesangial sclerosis
23279	NUP160	HP:0001945	Fever
23279	NUP160	HP:0003073	Hypoalbuminemia
23279	NUP160	HP:0000737	Irritability
23279	NUP160	HP:0000707	Abnormality of the nervous system
23279	NUP160	HP:0000969	Edema
23279	NUP160	HP:0031504	Foamy urine
23279	NUP160	HP:0012588	Steroid-resistant nephrotic syndrome
23279	NUP160	HP:0012579	Minimal change glomerulonephritis
23287	AGTPBP1	HP:0001272	Cerebellar atrophy
23287	AGTPBP1	HP:0001270	Motor delay
23287	AGTPBP1	HP:0001250	Seizure
23287	AGTPBP1	HP:0001252	Hypotonia
23287	AGTPBP1	HP:0001251	Ataxia
23287	AGTPBP1	HP:0001265	Hyporeflexia
23287	AGTPBP1	HP:0001263	Global developmental delay
23287	AGTPBP1	HP:0001257	Spasticity
23287	AGTPBP1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
23287	AGTPBP1	HP:0002540	Inability to walk
23287	AGTPBP1	HP:0003803	Type 1 muscle fiber predominance
23287	AGTPBP1	HP:0025331	Upgaze palsy
23287	AGTPBP1	HP:0001347	Hyperreflexia
23287	AGTPBP1	HP:0001332	Dystonia
23287	AGTPBP1	HP:0033725	Thin corpus callosum
23287	AGTPBP1	HP:0001324	Muscle weakness
23287	AGTPBP1	HP:0001344	Absent speech
23287	AGTPBP1	HP:0000007	Autosomal recessive inheritance
23287	AGTPBP1	HP:0001308	Tongue fasciculations
23287	AGTPBP1	HP:0012110	Hypoplasia of the pons
23287	AGTPBP1	HP:0002747	Respiratory insufficiency due to muscle weakness
23287	AGTPBP1	HP:0003477	Peripheral axonal neuropathy
23287	AGTPBP1	HP:0002120	Cerebral cortical atrophy
23287	AGTPBP1	HP:0003593	Infantile onset
23287	AGTPBP1	HP:0002273	Tetraparesis
23287	AGTPBP1	HP:0003577	Congenital onset
23287	AGTPBP1	HP:0004886	Congenital laryngeal stridor
23287	AGTPBP1	HP:0002283	Global brain atrophy
23287	AGTPBP1	HP:0007002	Motor axonal neuropathy
23287	AGTPBP1	HP:0011968	Feeding difficulties
23287	AGTPBP1	HP:0002398	Degeneration of anterior horn cells
23287	AGTPBP1	HP:0002376	Developmental regression
23287	AGTPBP1	HP:0003676	Progressive
23287	AGTPBP1	HP:0002350	Cerebellar cyst
23287	AGTPBP1	HP:0000639	Nystagmus
23287	AGTPBP1	HP:0000648	Optic atrophy
23287	AGTPBP1	HP:0006989	Dysplastic corpus callosum
23287	AGTPBP1	HP:0011410	Caesarian section
23287	AGTPBP1	HP:0011463	Childhood onset
23287	AGTPBP1	HP:0003202	Skeletal muscle atrophy
23287	AGTPBP1	HP:0002804	Arthrogryposis multiplex congenita
23287	AGTPBP1	HP:0000253	Progressive microcephaly
23287	AGTPBP1	HP:0000252	Microcephaly
23287	AGTPBP1	HP:0002878	Respiratory failure
23287	AGTPBP1	HP:0001508	Failure to thrive
23287	AGTPBP1	HP:0000486	Strabismus
23287	AGTPBP1	HP:0000514	Slow saccadic eye movements
23287	AGTPBP1	HP:0000529	Progressive visual loss
23287	AGTPBP1	HP:0000565	Esotropia
23288	IQCE	HP:0001162	Postaxial hand polydactyly
23288	IQCE	HP:0000007	Autosomal recessive inheritance
23288	IQCE	HP:0004704	Short fifth metatarsal
23288	IQCE	HP:0003577	Congenital onset
23288	IQCE	HP:0005709	2-3 toe cutaneous syndactyly
23288	IQCE	HP:0001830	Postaxial foot polydactyly
23291	FBXW11	HP:0001156	Brachydactyly
23291	FBXW11	HP:0001290	Generalized hypotonia
23291	FBXW11	HP:0001276	Hypertonia
23291	FBXW11	HP:0001270	Motor delay
23291	FBXW11	HP:0001249	Intellectual disability
23291	FBXW11	HP:0001245	Small thenar eminence
23291	FBXW11	HP:0000089	Renal hypoplasia
23291	FBXW11	HP:0000023	Inguinal hernia
23291	FBXW11	HP:0000006	Autosomal dominant inheritance
23291	FBXW11	HP:0004691	2-3 toe syndactyly
23291	FBXW11	HP:0002079	Hypoplasia of the corpus callosum
23291	FBXW11	HP:0100710	Impulsivity
23291	FBXW11	HP:0100719	Lens coloboma
23291	FBXW11	HP:0100716	Self-injurious behavior
23291	FBXW11	HP:0006956	Lateral ventricle dilatation
23291	FBXW11	HP:0100021	Cerebral palsy
23291	FBXW11	HP:0000750	Delayed speech and language development
23291	FBXW11	HP:0000718	Aggressive behavior
23291	FBXW11	HP:0000729	Autistic behavior
23291	FBXW11	HP:0009183	Joint contracture of the 5th finger
23291	FBXW11	HP:0009274	Joint contracture of the 4th finger
23291	FBXW11	HP:0000278	Retrognathia
23291	FBXW11	HP:0001537	Umbilical hernia
23291	FBXW11	HP:0000378	Cupped ear
23291	FBXW11	HP:0000347	Micrognathia
23291	FBXW11	HP:0001642	Pulmonic stenosis
23291	FBXW11	HP:0001655	Patent foramen ovale
23291	FBXW11	HP:0000303	Mandibular prognathia
23291	FBXW11	HP:0000486	Strabismus
23291	FBXW11	HP:0000465	Webbed neck
23291	FBXW11	HP:0031717	Alternating exotropia
23291	FBXW11	HP:0001852	Sandal gap
23291	FBXW11	HP:0000568	Microphthalmia
23291	FBXW11	HP:0000545	Myopia
23299	BICD2	HP:0001188	Hand clenching
23299	BICD2	HP:0001181	Adducted thumb
23299	BICD2	HP:0002460	Distal muscle weakness
23299	BICD2	HP:0007269	Spinal muscular atrophy
23299	BICD2	HP:0007210	Lower limb amyotrophy
23299	BICD2	HP:0003701	Proximal muscle weakness
23299	BICD2	HP:0001270	Motor delay
23299	BICD2	HP:0001283	Bulbar palsy
23299	BICD2	HP:0001284	Areflexia
23299	BICD2	HP:0001249	Intellectual disability
23299	BICD2	HP:0001265	Hyporeflexia
23299	BICD2	HP:0007340	Lower limb muscle weakness
23299	BICD2	HP:0002515	Waddling gait
23299	BICD2	HP:0001374	Congenital hip dislocation
23299	BICD2	HP:0001371	Flexion contracture
23299	BICD2	HP:0001385	Hip dysplasia
23299	BICD2	HP:0001347	Hyperreflexia
23299	BICD2	HP:0000006	Autosomal dominant inheritance
23299	BICD2	HP:0001320	Cerebellar vermis hypoplasia
23299	BICD2	HP:0002650	Scoliosis
23299	BICD2	HP:0001321	Cerebellar hypoplasia
23299	BICD2	HP:0002600	Hyporeflexia of lower limbs
23299	BICD2	HP:0008994	Proximal muscle weakness in lower limbs
23299	BICD2	HP:0008944	Distal lower limb amyotrophy
23299	BICD2	HP:0002747	Respiratory insufficiency due to muscle weakness
23299	BICD2	HP:0030973	Postexertional symptom exacerbation
23299	BICD2	HP:0003327	Axial muscle weakness
23299	BICD2	HP:0003307	Hyperlordosis
23299	BICD2	HP:0011808	Decreased patellar reflex
23299	BICD2	HP:0011800	Midface retrusion
23299	BICD2	HP:0002091	Restrictive ventilatory defect
23299	BICD2	HP:0002061	Lower limb spasticity
23299	BICD2	HP:0003391	Gowers sign
23299	BICD2	HP:0002079	Hypoplasia of the corpus callosum
23299	BICD2	HP:0003376	Steppage gait
23299	BICD2	HP:0009487	Ulnar deviation of the hand
23299	BICD2	HP:0003487	Babinski sign
23299	BICD2	HP:0002120	Cerebral cortical atrophy
23299	BICD2	HP:0002119	Ventriculomegaly
23299	BICD2	HP:0002136	Broad-based gait
23299	BICD2	HP:0010557	Overlapping fingers
23299	BICD2	HP:0003593	Infantile onset
23299	BICD2	HP:0003577	Congenital onset
23299	BICD2	HP:0003547	Shoulder girdle muscle weakness
23299	BICD2	HP:0011968	Feeding difficulties
23299	BICD2	HP:0002380	Fasciculations
23299	BICD2	HP:0003691	Scapular winging
23299	BICD2	HP:0002355	Difficulty walking
23299	BICD2	HP:0003621	Juvenile onset
23299	BICD2	HP:0031846	Femur fracture
23299	BICD2	HP:0006829	Severe muscular hypotonia
23299	BICD2	HP:0009072	Decreased Achilles reflex
23299	BICD2	HP:0009053	Distal lower limb muscle weakness
23299	BICD2	HP:0009046	Difficulty running
23299	BICD2	HP:0012650	Perisylvian polymicrogyria
23299	BICD2	HP:0006956	Lateral ventricle dilatation
23299	BICD2	HP:0034197	Third trimester onset
23299	BICD2	HP:0034198	Second trimester onset
23299	BICD2	HP:0000767	Pectus excavatum
23299	BICD2	HP:0011463	Childhood onset
23299	BICD2	HP:0100309	Subdural hemorrhage
23299	BICD2	HP:0003236	Elevated circulating creatine kinase concentration
23299	BICD2	HP:0005853	Congenital foot contraction deformities
23299	BICD2	HP:0003202	Skeletal muscle atrophy
23299	BICD2	HP:0003298	Spina bifida occulta
23299	BICD2	HP:0003273	Hip contracture
23299	BICD2	HP:0000954	Single transverse palmar crease
23299	BICD2	HP:0000960	Sacral dimple
23299	BICD2	HP:0000256	Macrocephaly
23299	BICD2	HP:0005109	Abnormality of the Achilles tendon
23299	BICD2	HP:0002827	Hip dislocation
23299	BICD2	HP:0002828	Multiple joint contractures
23299	BICD2	HP:0002808	Kyphosis
23299	BICD2	HP:0002804	Arthrogryposis multiplex congenita
23299	BICD2	HP:0006380	Knee flexion contracture
23299	BICD2	HP:0002878	Respiratory failure
23299	BICD2	HP:0001561	Polyhydramnios
23299	BICD2	HP:0001558	Decreased fetal movement
23299	BICD2	HP:0002870	Obstructive sleep apnea
23299	BICD2	HP:0002871	Central apnea
23299	BICD2	HP:0030051	Tip-toe gait
23299	BICD2	HP:0000377	Abnormal pinna morphology
23299	BICD2	HP:0000347	Micrognathia
23299	BICD2	HP:0030237	Hand muscle weakness
23299	BICD2	HP:0001771	Achilles tendon contracture
23299	BICD2	HP:0001763	Pes planus
23299	BICD2	HP:0001762	Talipes equinovarus
23299	BICD2	HP:0001761	Pes cavus
23299	BICD2	HP:0012510	Extra-axial cerebrospinal fluid accumulation
23309	SIN3B	HP:0001256	Intellectual disability, mild
23309	SIN3B	HP:0001250	Seizure
23309	SIN3B	HP:0410263	Brain imaging abnormality
23309	SIN3B	HP:0002500	Abnormal cerebral white matter morphology
23309	SIN3B	HP:0001382	Joint hypermobility
23309	SIN3B	HP:0000164	Abnormality of the dentition
23309	SIN3B	HP:0002750	Delayed skeletal maturation
23309	SIN3B	HP:0002119	Ventriculomegaly
23309	SIN3B	HP:0002213	Fine hair
23309	SIN3B	HP:0032059	Mild malformation of cortical development
23309	SIN3B	HP:0001999	Abnormal facial shape
23309	SIN3B	HP:0006989	Dysplastic corpus callosum
23309	SIN3B	HP:0000736	Short attention span
23309	SIN3B	HP:0000729	Autistic behavior
23309	SIN3B	HP:0000722	Compulsive behaviors
23309	SIN3B	HP:0000924	Abnormality of the skeletal system
23309	SIN3B	HP:0040195	Decreased head circumference
23309	SIN3B	HP:0030084	Clinodactyly
23309	SIN3B	HP:0000365	Hearing impairment
23309	SIN3B	HP:0001808	Fragile nails
23310	NCAPD3	HP:0010864	Intellectual disability, severe
23310	NCAPD3	HP:0001274	Agenesis of corpus callosum
23310	NCAPD3	HP:0001250	Seizure
23310	NCAPD3	HP:0001263	Global developmental delay
23310	NCAPD3	HP:0007333	Hypoplasia of the frontal lobes
23310	NCAPD3	HP:0002509	Limb hypertonia
23310	NCAPD3	HP:0000076	Vesicoureteral reflux
23310	NCAPD3	HP:0001347	Hyperreflexia
23310	NCAPD3	HP:0000007	Autosomal recessive inheritance
23310	NCAPD3	HP:0001302	Pachygyria
23310	NCAPD3	HP:0000122	Unilateral renal agenesis
23310	NCAPD3	HP:0002119	Ventriculomegaly
23310	NCAPD3	HP:0003593	Infantile onset
23310	NCAPD3	HP:0002282	Gray matter heterotopia
23310	NCAPD3	HP:0011343	Moderate global developmental delay
23310	NCAPD3	HP:0004322	Short stature
23310	NCAPD3	HP:0003103	Abnormal cortical bone morphology
23310	NCAPD3	HP:0000252	Microcephaly
23310	NCAPD3	HP:0000219	Thin upper lip vermilion
23310	NCAPD3	HP:0001518	Small for gestational age
23310	NCAPD3	HP:0001510	Growth delay
23310	NCAPD3	HP:0000340	Sloping forehead
23310	NCAPD3	HP:0000582	Upslanted palpebral fissure
23312	DMXL2	HP:0007256	Abnormal pyramidal sign
23312	DMXL2	HP:0010851	EEG with burst suppression
23312	DMXL2	HP:0010850	EEG with spike-wave complexes
23312	DMXL2	HP:0002421	Poor head control
23312	DMXL2	HP:0001272	Cerebellar atrophy
23312	DMXL2	HP:0001271	Polyneuropathy
23312	DMXL2	HP:0001270	Motor delay
23312	DMXL2	HP:0001250	Seizure
23312	DMXL2	HP:0001251	Ataxia
23312	DMXL2	HP:0001249	Intellectual disability
23312	DMXL2	HP:0001266	Choreoathetosis
23312	DMXL2	HP:0001260	Dysarthria
23312	DMXL2	HP:0001263	Global developmental delay
23312	DMXL2	HP:0001257	Spasticity
23312	DMXL2	HP:0008734	Decreased testicular size
23312	DMXL2	HP:0007359	Focal-onset seizure
23312	DMXL2	HP:0031097	Abnormal thyroid-stimulating hormone level
23312	DMXL2	HP:0002521	Hypsarrhythmia
23312	DMXL2	HP:0002506	Diffuse cerebral atrophy
23312	DMXL2	HP:0000070	Ureterocele
23312	DMXL2	HP:0000044	Hypogonadotropic hypogonadism
23312	DMXL2	HP:0000054	Micropenis
23312	DMXL2	HP:0008897	Postnatal growth retardation
23312	DMXL2	HP:0001332	Dystonia
23312	DMXL2	HP:0000007	Autosomal recessive inheritance
23312	DMXL2	HP:0001337	Tremor
23312	DMXL2	HP:0000006	Autosomal dominant inheritance
23312	DMXL2	HP:0001336	Myoclonus
23312	DMXL2	HP:0001302	Pachygyria
23312	DMXL2	HP:0001321	Cerebellar hypoplasia
23312	DMXL2	HP:0000175	Cleft palate
23312	DMXL2	HP:0000135	Hypogonadism
23312	DMXL2	HP:0008994	Proximal muscle weakness in lower limbs
23312	DMXL2	HP:0008947	Infantile muscular hypotonia
23312	DMXL2	HP:0000110	Renal dysplasia
23312	DMXL2	HP:0005978	Type II diabetes mellitus
23312	DMXL2	HP:0002069	Bilateral tonic-clonic seizure
23312	DMXL2	HP:0002079	Hypoplasia of the corpus callosum
23312	DMXL2	HP:0002058	Myopathic facies
23312	DMXL2	HP:0011787	Central hypothyroidism
23312	DMXL2	HP:0002121	Generalized non-motor (absence) seizure
23312	DMXL2	HP:0002131	Episodic ataxia
23312	DMXL2	HP:0002187	Intellectual disability, profound
23312	DMXL2	HP:0002266	Focal clonic seizure
23312	DMXL2	HP:0003577	Congenital onset
23312	DMXL2	HP:0100716	Self-injurious behavior
23312	DMXL2	HP:0010627	Anterior pituitary hypoplasia
23312	DMXL2	HP:0002360	Sleep disturbance
23312	DMXL2	HP:0002376	Developmental regression
23312	DMXL2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
23312	DMXL2	HP:0003676	Progressive
23312	DMXL2	HP:0002342	Intellectual disability, moderate
23312	DMXL2	HP:0002353	EEG abnormality
23312	DMXL2	HP:0007204	Diffuse white matter abnormalities
23312	DMXL2	HP:0100660	Dyskinesia
23312	DMXL2	HP:0010819	Atonic seizure
23312	DMXL2	HP:0010818	Generalized tonic seizure
23312	DMXL2	HP:0009830	Peripheral neuropathy
23312	DMXL2	HP:0007108	Demyelinating peripheral neuropathy
23312	DMXL2	HP:0006829	Severe muscular hypotonia
23312	DMXL2	HP:0001943	Hypoglycemia
23312	DMXL2	HP:0004322	Short stature
23312	DMXL2	HP:0000752	Hyperactivity
23312	DMXL2	HP:0000729	Autistic behavior
23312	DMXL2	HP:0010174	Broad phalanx of the toes
23312	DMXL2	HP:0004408	Abnormality of the sense of smell
23312	DMXL2	HP:0000826	Precocious puberty
23312	DMXL2	HP:0040216	Hypoinsulinemia
23312	DMXL2	HP:0100287	EMG: slow motor conduction
23312	DMXL2	HP:0040171	Decreased serum testosterone concentration
23312	DMXL2	HP:0009381	Short finger
23312	DMXL2	HP:0000286	Epicanthus
23312	DMXL2	HP:0001596	Alopecia
23312	DMXL2	HP:0000268	Dolichocephaly
23312	DMXL2	HP:0000252	Microcephaly
23312	DMXL2	HP:0000218	High palate
23312	DMXL2	HP:0001537	Umbilical hernia
23312	DMXL2	HP:0001508	Failure to thrive
23312	DMXL2	HP:0001500	Broad finger
23312	DMXL2	HP:0000340	Sloping forehead
23312	DMXL2	HP:0000350	Small forehead
23312	DMXL2	HP:0032792	Tonic seizure
23312	DMXL2	HP:0032794	Myoclonic seizure
23312	DMXL2	HP:0001629	Ventricular septal defect
23312	DMXL2	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
23312	DMXL2	HP:0011169	Generalized clonic seizure
23312	DMXL2	HP:0000407	Sensorineural hearing impairment
23312	DMXL2	HP:0001730	Progressive hearing impairment
23312	DMXL2	HP:0005280	Depressed nasal bridge
23312	DMXL2	HP:0000486	Strabismus
23312	DMXL2	HP:0012469	Infantile spasms
23312	DMXL2	HP:0000494	Downslanted palpebral fissures
23312	DMXL2	HP:0000463	Anteverted nares
23312	DMXL2	HP:0012448	Delayed myelination
23312	DMXL2	HP:0011120	Concave nasal ridge
23312	DMXL2	HP:0001751	Abnormal vestibular function
23312	DMXL2	HP:0001761	Pes cavus
23312	DMXL2	HP:0030344	Decreased circulating luteinizing hormone level
23312	DMXL2	HP:0030341	Decreased circulating follicle stimulating hormone concentration
23312	DMXL2	HP:0012554	Absent thumbnail
23314	SATB2	HP:0001155	Abnormality of the hand
23314	SATB2	HP:0001166	Arachnodactyly
23314	SATB2	HP:0002465	Poor speech
23314	SATB2	HP:0025161	Frequent temper tantrums
23314	SATB2	HP:0010864	Intellectual disability, severe
23314	SATB2	HP:0001276	Hypertonia
23314	SATB2	HP:0001250	Seizure
23314	SATB2	HP:0001252	Hypotonia
23314	SATB2	HP:0001249	Intellectual disability
23314	SATB2	HP:0002591	Polyphagia
23314	SATB2	HP:0001263	Global developmental delay
23314	SATB2	HP:0001238	Slender finger
23314	SATB2	HP:0100886	Abnormality of globe location
23314	SATB2	HP:0008734	Decreased testicular size
23314	SATB2	HP:0410263	Brain imaging abnormality
23314	SATB2	HP:0002546	Incomprehensible speech
23314	SATB2	HP:0002500	Abnormal cerebral white matter morphology
23314	SATB2	HP:0000054	Micropenis
23314	SATB2	HP:0001382	Joint hypermobility
23314	SATB2	HP:0000023	Inguinal hernia
23314	SATB2	HP:0000028	Cryptorchidism
23314	SATB2	HP:0008897	Postnatal growth retardation
23314	SATB2	HP:0008872	Feeding difficulties in infancy
23314	SATB2	HP:0002659	Increased susceptibility to fractures
23314	SATB2	HP:0001344	Absent speech
23314	SATB2	HP:0000006	Autosomal dominant inheritance
23314	SATB2	HP:0002608	Celiac disease
23314	SATB2	HP:0000193	Bifid uvula
23314	SATB2	HP:0000164	Abnormality of the dentition
23314	SATB2	HP:0000160	Narrow mouth
23314	SATB2	HP:0000175	Cleft palate
23314	SATB2	HP:0006349	Agenesis of permanent teeth
23314	SATB2	HP:0008947	Infantile muscular hypotonia
23314	SATB2	HP:0002761	Generalized joint laxity
23314	SATB2	HP:0002020	Gastroesophageal reflux
23314	SATB2	HP:0002033	Poor suck
23314	SATB2	HP:0002015	Dysphagia
23314	SATB2	HP:0002011	Morphological central nervous system abnormality
23314	SATB2	HP:0002007	Frontal bossing
23314	SATB2	HP:0011800	Midface retrusion
23314	SATB2	HP:0100559	Lower limb asymmetry
23314	SATB2	HP:0002069	Bilateral tonic-clonic seizure
23314	SATB2	HP:0002061	Lower limb spasticity
23314	SATB2	HP:0002136	Broad-based gait
23314	SATB2	HP:0002104	Apnea
23314	SATB2	HP:0002164	Nail dysplasia
23314	SATB2	HP:0003593	Infantile onset
23314	SATB2	HP:0003577	Congenital onset
23314	SATB2	HP:0002213	Fine hair
23314	SATB2	HP:0007018	Attention deficit hyperactivity disorder
23314	SATB2	HP:0011968	Feeding difficulties
23314	SATB2	HP:0020045	Esodeviation
23314	SATB2	HP:0002360	Sleep disturbance
23314	SATB2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
23314	SATB2	HP:0002342	Intellectual disability, moderate
23314	SATB2	HP:0200055	Small hand
23314	SATB2	HP:0002307	Drooling
23314	SATB2	HP:0004209	Clinodactyly of the 5th finger
23314	SATB2	HP:0010059	Broad hallux phalanx
23314	SATB2	HP:0000620	Dacryocystitis
23314	SATB2	HP:0010055	Broad hallux
23314	SATB2	HP:0000698	Conical tooth
23314	SATB2	HP:0011344	Severe global developmental delay
23314	SATB2	HP:0011339	Abnormality of upper lip vermillion
23314	SATB2	HP:0000678	Dental crowding
23314	SATB2	HP:0000677	Oligodontia
23314	SATB2	HP:0000691	Microdontia
23314	SATB2	HP:0000689	Dental malocclusion
23314	SATB2	HP:0011304	Broad thumb
23314	SATB2	HP:0001999	Abnormal facial shape
23314	SATB2	HP:0004322	Short stature
23314	SATB2	HP:0005692	Joint hyperflexibility
23314	SATB2	HP:0000752	Hyperactivity
23314	SATB2	HP:0100024	Conspicuously happy disposition
23314	SATB2	HP:0000739	Anxiety
23314	SATB2	HP:0000750	Delayed speech and language development
23314	SATB2	HP:0000742	Self-mutilation
23314	SATB2	HP:0000718	Aggressive behavior
23314	SATB2	HP:0000717	Autism
23314	SATB2	HP:0000712	Emotional lability
23314	SATB2	HP:0000711	Restlessness
23314	SATB2	HP:0000729	Autistic behavior
23314	SATB2	HP:0000708	Atypical behavior
23314	SATB2	HP:0011470	Nasogastric tube feeding in infancy
23314	SATB2	HP:0003196	Short nose
23314	SATB2	HP:0000924	Abnormality of the skeletal system
23314	SATB2	HP:0003189	Long nose
23314	SATB2	HP:0004482	Relative macrocephaly
23314	SATB2	HP:0040082	Happy demeanor
23314	SATB2	HP:0003241	External genital hypoplasia
23314	SATB2	HP:0003272	Abnormal hip bone morphology
23314	SATB2	HP:0000951	Abnormality of the skin
23314	SATB2	HP:0000963	Thin skin
23314	SATB2	HP:0000938	Osteopenia
23314	SATB2	HP:0040160	Generalized osteoporosis
23314	SATB2	HP:0008070	Sparse hair
23314	SATB2	HP:0000297	Facial hypotonia
23314	SATB2	HP:0000256	Macrocephaly
23314	SATB2	HP:0000275	Narrow face
23314	SATB2	HP:0000276	Long face
23314	SATB2	HP:0000272	Malar flattening
23314	SATB2	HP:0002815	Abnormality of the knee
23314	SATB2	HP:0006390	Anterior tibial bowing
23314	SATB2	HP:0000252	Microcephaly
23314	SATB2	HP:0000248	Brachycephaly
23314	SATB2	HP:0000219	Thin upper lip vermilion
23314	SATB2	HP:0000218	High palate
23314	SATB2	HP:0000212	Gingival overgrowth
23314	SATB2	HP:0000233	Thin vermilion border
23314	SATB2	HP:0002870	Obstructive sleep apnea
23314	SATB2	HP:0000201	Pierre-Robin sequence
23314	SATB2	HP:0001510	Growth delay
23314	SATB2	HP:0012385	Camptodactyly
23314	SATB2	HP:0002938	Lumbar hyperlordosis
23314	SATB2	HP:0001601	Laryngomalacia
23314	SATB2	HP:0000356	Abnormality of the outer ear
23314	SATB2	HP:0000358	Posteriorly rotated ears
23314	SATB2	HP:0000369	Low-set ears
23314	SATB2	HP:0000343	Long philtrum
23314	SATB2	HP:0000337	Broad forehead
23314	SATB2	HP:0000348	High forehead
23314	SATB2	HP:0000347	Micrognathia
23314	SATB2	HP:0002982	Tibial bowing
23314	SATB2	HP:0000319	Smooth philtrum
23314	SATB2	HP:0000322	Short philtrum
23314	SATB2	HP:0000324	Facial asymmetry
23314	SATB2	HP:0001629	Ventricular septal defect
23314	SATB2	HP:0011147	Typical absence seizure
23314	SATB2	HP:0000486	Strabismus
23314	SATB2	HP:0000478	Abnormality of the eye
23314	SATB2	HP:0000494	Downslanted palpebral fissures
23314	SATB2	HP:0000490	Deeply set eye
23314	SATB2	HP:0000463	Anteverted nares
23314	SATB2	HP:0000460	Narrow nose
23314	SATB2	HP:0012448	Delayed myelination
23314	SATB2	HP:0000455	Broad nasal tip
23314	SATB2	HP:0000470	Short neck
23314	SATB2	HP:0001773	Short foot
23314	SATB2	HP:0012428	Prominent calcaneus
23314	SATB2	HP:0000444	Convex nasal ridge
23314	SATB2	HP:0000445	Wide nose
23314	SATB2	HP:0001776	Bilateral talipes equinovarus
23314	SATB2	HP:0000414	Bulbous nose
23314	SATB2	HP:0001762	Talipes equinovarus
23314	SATB2	HP:0000426	Prominent nasal bridge
23314	SATB2	HP:0005469	Flat occiput
23314	SATB2	HP:0000527	Long eyelashes
23314	SATB2	HP:0000504	Abnormality of vision
23314	SATB2	HP:0000589	Coloboma
23314	SATB2	HP:0011220	Prominent forehead
23314	SATB2	HP:0000540	Hypermetropia
23314	SATB2	HP:0001863	Toe clinodactyly
23316	CUX2	HP:0007270	Atypical absence seizure
23316	CUX2	HP:0001298	Encephalopathy
23316	CUX2	HP:0001272	Cerebellar atrophy
23316	CUX2	HP:0001268	Mental deterioration
23316	CUX2	HP:0001288	Gait disturbance
23316	CUX2	HP:0001249	Intellectual disability
23316	CUX2	HP:0001263	Global developmental delay
23316	CUX2	HP:0007359	Focal-onset seizure
23316	CUX2	HP:0002521	Hypsarrhythmia
23316	CUX2	HP:0002527	Falls
23316	CUX2	HP:0012075	Personality disorder
23316	CUX2	HP:0001332	Dystonia
23316	CUX2	HP:0000006	Autosomal dominant inheritance
23316	CUX2	HP:0001336	Myoclonus
23316	CUX2	HP:0002069	Bilateral tonic-clonic seizure
23316	CUX2	HP:0002123	Generalized myoclonic seizure
23316	CUX2	HP:0002121	Generalized non-motor (absence) seizure
23316	CUX2	HP:0003593	Infantile onset
23316	CUX2	HP:0200134	Epileptic encephalopathy
23316	CUX2	HP:0002363	Abnormal brainstem morphology
23316	CUX2	HP:0002376	Developmental regression
23316	CUX2	HP:0002353	EEG abnormality
23316	CUX2	HP:0100660	Dyskinesia
23316	CUX2	HP:0010819	Atonic seizure
23316	CUX2	HP:0010818	Generalized tonic seizure
23316	CUX2	HP:0002305	Athetosis
23316	CUX2	HP:0006813	Focal hemiclonic seizure
23316	CUX2	HP:0000752	Hyperactivity
23316	CUX2	HP:0100023	Recurrent hand flapping
23316	CUX2	HP:0000718	Aggressive behavior
23316	CUX2	HP:0000729	Autistic behavior
23316	CUX2	HP:0000708	Atypical behavior
23316	CUX2	HP:0011463	Childhood onset
23316	CUX2	HP:0032792	Tonic seizure
23316	CUX2	HP:0011195	EEG with focal sharp slow waves
23317	DNAJC13	HP:0001268	Mental deterioration
23317	DNAJC13	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
23317	DNAJC13	HP:0001332	Dystonia
23317	DNAJC13	HP:0001300	Parkinsonism
23317	DNAJC13	HP:0002015	Dysphagia
23317	DNAJC13	HP:0002067	Bradykinesia
23317	DNAJC13	HP:0003394	Muscle spasm
23317	DNAJC13	HP:0002063	Rigidity
23317	DNAJC13	HP:0002120	Cerebral cortical atrophy
23317	DNAJC13	HP:0002171	Gliosis
23317	DNAJC13	HP:0002172	Postural instability
23317	DNAJC13	HP:0100710	Impulsivity
23317	DNAJC13	HP:0100753	Schizophrenia
23317	DNAJC13	HP:0002367	Visual hallucinations
23317	DNAJC13	HP:0002362	Shuffling gait
23317	DNAJC13	HP:0002360	Sleep disturbance
23317	DNAJC13	HP:0002359	Frequent falls
23317	DNAJC13	HP:0002322	Resting tremor
23317	DNAJC13	HP:0100660	Dyskinesia
23317	DNAJC13	HP:0002304	Akinesia
23317	DNAJC13	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
23317	DNAJC13	HP:0000651	Diplopia
23317	DNAJC13	HP:0000744	Low frustration tolerance
23317	DNAJC13	HP:0000741	Apathy
23317	DNAJC13	HP:0000716	Depression
23317	DNAJC13	HP:0000713	Agitation
23317	DNAJC13	HP:0000726	Dementia
23317	DNAJC13	HP:0004409	Hyposmia
23317	DNAJC13	HP:0100315	Lewy bodies
23317	DNAJC13	HP:0031435	Monotonic speech
23317	DNAJC13	HP:0000338	Hypomimic face
23317	DNAJC13	HP:0005340	Spastic/hyperactive bladder
23317	DNAJC13	HP:0012450	Chronic constipation
23317	DNAJC13	HP:0001824	Weight loss
23321	TRIM2	HP:0001284	Areflexia
23321	TRIM2	HP:0001252	Hypotonia
23321	TRIM2	HP:0002540	Inability to walk
23321	TRIM2	HP:0001324	Muscle weakness
23321	TRIM2	HP:0000007	Autosomal recessive inheritance
23321	TRIM2	HP:0008954	Intrinsic hand muscle atrophy
23321	TRIM2	HP:0002779	Tracheomalacia
23321	TRIM2	HP:0002093	Respiratory insufficiency
23321	TRIM2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
23321	TRIM2	HP:0003477	Peripheral axonal neuropathy
23321	TRIM2	HP:0002136	Broad-based gait
23321	TRIM2	HP:0003431	Decreased motor nerve conduction velocity
23321	TRIM2	HP:0003593	Infantile onset
23321	TRIM2	HP:0031936	Delayed ability to walk
23321	TRIM2	HP:0003199	Decreased muscle mass
23321	TRIM2	HP:0040078	Axonal degeneration
23321	TRIM2	HP:0006380	Knee flexion contracture
23321	TRIM2	HP:0001605	Vocal cord paralysis
23321	TRIM2	HP:0001762	Talipes equinovarus
23321	TRIM2	HP:0001761	Pes cavus
23322	RPGRIP1L	HP:0001177	Preaxial hand polydactyly
23322	RPGRIP1L	HP:0001162	Postaxial hand polydactyly
23322	RPGRIP1L	HP:0001161	Hand polydactyly
23322	RPGRIP1L	HP:0003774	Stage 5 chronic kidney disease
23322	RPGRIP1L	HP:0002419	Molar tooth sign on MRI
23322	RPGRIP1L	HP:0001290	Generalized hypotonia
23322	RPGRIP1L	HP:0001274	Agenesis of corpus callosum
23322	RPGRIP1L	HP:0001273	Abnormal corpus callosum morphology
23322	RPGRIP1L	HP:0001288	Gait disturbance
23322	RPGRIP1L	HP:0001250	Seizure
23322	RPGRIP1L	HP:0001252	Hypotonia
23322	RPGRIP1L	HP:0001251	Ataxia
23322	RPGRIP1L	HP:0001249	Intellectual disability
23322	RPGRIP1L	HP:0001263	Global developmental delay
23322	RPGRIP1L	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
23322	RPGRIP1L	HP:0007360	Aplasia/Hypoplasia of the cerebellum
23322	RPGRIP1L	HP:0002553	Highly arched eyebrow
23322	RPGRIP1L	HP:0002508	Brainstem dysplasia
23322	RPGRIP1L	HP:0000083	Renal insufficiency
23322	RPGRIP1L	HP:0000090	Nephronophthisis
23322	RPGRIP1L	HP:0000092	Renal tubular atrophy
23322	RPGRIP1L	HP:0000068	Urethral atresia
23322	RPGRIP1L	HP:0000062	Ambiguous genitalia
23322	RPGRIP1L	HP:0001394	Cirrhosis
23322	RPGRIP1L	HP:0000073	Ureteral duplication
23322	RPGRIP1L	HP:0000037	Male pseudohermaphroditism
23322	RPGRIP1L	HP:0000023	Inguinal hernia
23322	RPGRIP1L	HP:0001347	Hyperreflexia
23322	RPGRIP1L	HP:0000028	Cryptorchidism
23322	RPGRIP1L	HP:0008872	Feeding difficulties in infancy
23322	RPGRIP1L	HP:0000007	Autosomal recessive inheritance
23322	RPGRIP1L	HP:0000003	Multicystic kidney dysplasia
23322	RPGRIP1L	HP:0001337	Tremor
23322	RPGRIP1L	HP:0001305	Dandy-Walker malformation
23322	RPGRIP1L	HP:0001320	Cerebellar vermis hypoplasia
23322	RPGRIP1L	HP:0002650	Scoliosis
23322	RPGRIP1L	HP:0002612	Congenital hepatic fibrosis
23322	RPGRIP1L	HP:0000175	Cleft palate
23322	RPGRIP1L	HP:0002793	Abnormal pattern of respiration
23322	RPGRIP1L	HP:0002790	Neonatal breathing dysregulation
23322	RPGRIP1L	HP:0002789	Tachypnea
23322	RPGRIP1L	HP:0000112	Nephropathy
23322	RPGRIP1L	HP:0000107	Renal cyst
23322	RPGRIP1L	HP:0001409	Portal hypertension
23322	RPGRIP1L	HP:0001408	Bile duct proliferation
23322	RPGRIP1L	HP:0002085	Occipital encephalocele
23322	RPGRIP1L	HP:0002084	Encephalocele
23322	RPGRIP1L	HP:0010459	True hermaphroditism
23322	RPGRIP1L	HP:0002126	Polymicrogyria
23322	RPGRIP1L	HP:0002104	Apnea
23322	RPGRIP1L	HP:0003593	Infantile onset
23322	RPGRIP1L	HP:0002269	Abnormality of neuronal migration
23322	RPGRIP1L	HP:0003577	Congenital onset
23322	RPGRIP1L	HP:0002240	Hepatomegaly
23322	RPGRIP1L	HP:0002251	Aganglionic megacolon
23322	RPGRIP1L	HP:0100732	Pancreatic fibrosis
23322	RPGRIP1L	HP:0011968	Feeding difficulties
23322	RPGRIP1L	HP:0002365	Hypoplasia of the brainstem
23322	RPGRIP1L	HP:0002342	Intellectual disability, moderate
23322	RPGRIP1L	HP:0002323	Anencephaly
23322	RPGRIP1L	HP:0100626	Chronic hepatic failure
23322	RPGRIP1L	HP:0006870	Lobar holoprosencephaly
23322	RPGRIP1L	HP:0000639	Nystagmus
23322	RPGRIP1L	HP:0000648	Optic atrophy
23322	RPGRIP1L	HP:0000647	Sclerocornea
23322	RPGRIP1L	HP:0000612	Iris coloboma
23322	RPGRIP1L	HP:0001903	Anemia
23322	RPGRIP1L	HP:0000657	Oculomotor apraxia
23322	RPGRIP1L	HP:0030680	Abnormality of cardiovascular system morphology
23322	RPGRIP1L	HP:0000729	Autistic behavior
23322	RPGRIP1L	HP:0004422	Biparietal narrowing
23322	RPGRIP1L	HP:0000864	Abnormality of the hypothalamus-pituitary axis
23322	RPGRIP1L	HP:0010295	Aplasia/Hypoplasia of the tongue
23322	RPGRIP1L	HP:0100259	Postaxial polydactyly
23322	RPGRIP1L	HP:0008053	Aplasia/Hypoplasia of the iris
23322	RPGRIP1L	HP:0000293	Full cheeks
23322	RPGRIP1L	HP:0000256	Macrocephaly
23322	RPGRIP1L	HP:0000276	Long face
23322	RPGRIP1L	HP:0000238	Hydrocephalus
23322	RPGRIP1L	HP:0002896	Neoplasm of the liver
23322	RPGRIP1L	HP:0000252	Microcephaly
23322	RPGRIP1L	HP:0000221	Furrowed tongue
23322	RPGRIP1L	HP:0002876	Episodic tachypnea
23322	RPGRIP1L	HP:0001562	Oligohydramnios
23322	RPGRIP1L	HP:0002857	Genu valgum
23322	RPGRIP1L	HP:0002871	Central apnea
23322	RPGRIP1L	HP:0000202	Orofacial cleft
23322	RPGRIP1L	HP:0000204	Cleft upper lip
23322	RPGRIP1L	HP:0006580	Portal fibrosis
23322	RPGRIP1L	HP:0005248	Intrahepatic biliary atresia
23322	RPGRIP1L	HP:0002910	Elevated hepatic transaminase
23322	RPGRIP1L	HP:0006487	Bowing of the long bones
23322	RPGRIP1L	HP:0001696	Situs inversus totalis
23322	RPGRIP1L	HP:0000369	Low-set ears
23322	RPGRIP1L	HP:0000368	Low-set, posteriorly rotated ears
23322	RPGRIP1L	HP:0000340	Sloping forehead
23322	RPGRIP1L	HP:0000347	Micrognathia
23322	RPGRIP1L	HP:0000316	Hypertelorism
23322	RPGRIP1L	HP:0032945	Renal interstitial inflammation
23322	RPGRIP1L	HP:0032948	Renal interstitial fibrosis
23322	RPGRIP1L	HP:0001737	Pancreatic cysts
23322	RPGRIP1L	HP:0000486	Strabismus
23322	RPGRIP1L	HP:0000482	Microcornea
23322	RPGRIP1L	HP:0000463	Anteverted nares
23322	RPGRIP1L	HP:0000457	Depressed nasal ridge
23322	RPGRIP1L	HP:0001746	Asplenia
23322	RPGRIP1L	HP:0001747	Accessory spleen
23322	RPGRIP1L	HP:0001744	Splenomegaly
23322	RPGRIP1L	HP:0000426	Prominent nasal bridge
23322	RPGRIP1L	HP:0006706	Cystic liver disease
23322	RPGRIP1L	HP:0000518	Cataract
23322	RPGRIP1L	HP:0000528	Anophthalmia
23322	RPGRIP1L	HP:0000508	Ptosis
23322	RPGRIP1L	HP:0000505	Visual impairment
23322	RPGRIP1L	HP:0001830	Postaxial foot polydactyly
23322	RPGRIP1L	HP:0000588	Optic disc coloboma
23322	RPGRIP1L	HP:0000556	Retinal dystrophy
23322	RPGRIP1L	HP:0000568	Microphthalmia
23322	RPGRIP1L	HP:0000567	Chorioretinal coloboma
23322	RPGRIP1L	HP:0000532	Abnormal chorioretinal morphology
23322	RPGRIP1L	HP:0001883	Talipes
23325	WASHC4	HP:0010862	Delayed fine motor development
23325	WASHC4	HP:0001252	Hypotonia
23325	WASHC4	HP:0001249	Intellectual disability
23325	WASHC4	HP:0001263	Global developmental delay
23325	WASHC4	HP:0001257	Spasticity
23325	WASHC4	HP:0002553	Highly arched eyebrow
23325	WASHC4	HP:0000007	Autosomal recessive inheritance
23325	WASHC4	HP:0002187	Intellectual disability, profound
23325	WASHC4	HP:0003593	Infantile onset
23325	WASHC4	HP:0100716	Self-injurious behavior
23325	WASHC4	HP:0003623	Neonatal onset
23325	WASHC4	HP:0034042	Dorsal hirsutism
23325	WASHC4	HP:0004322	Short stature
23325	WASHC4	HP:0031936	Delayed ability to walk
23325	WASHC4	HP:0012736	Profound global developmental delay
23325	WASHC4	HP:0000750	Delayed speech and language development
23325	WASHC4	HP:0000252	Microcephaly
23325	WASHC4	HP:0000219	Thin upper lip vermilion
23325	WASHC4	HP:0000369	Low-set ears
23325	WASHC4	HP:0000486	Strabismus
23325	WASHC4	HP:0000455	Broad nasal tip
23325	WASHC4	HP:0011220	Prominent forehead
23327	NEDD4L	HP:0001250	Seizure
23327	NEDD4L	HP:0001252	Hypotonia
23327	NEDD4L	HP:0001251	Ataxia
23327	NEDD4L	HP:0001249	Intellectual disability
23327	NEDD4L	HP:0001263	Global developmental delay
23327	NEDD4L	HP:0032388	Periventricular nodular heterotopia
23327	NEDD4L	HP:0007359	Focal-onset seizure
23327	NEDD4L	HP:0002539	Cortical dysplasia
23327	NEDD4L	HP:0002521	Hypsarrhythmia
23327	NEDD4L	HP:0003834	Shoulder dislocation
23327	NEDD4L	HP:0001382	Joint hypermobility
23327	NEDD4L	HP:0000028	Cryptorchidism
23327	NEDD4L	HP:0001344	Absent speech
23327	NEDD4L	HP:0000006	Autosomal dominant inheritance
23327	NEDD4L	HP:0002650	Scoliosis
23327	NEDD4L	HP:0000160	Narrow mouth
23327	NEDD4L	HP:0000175	Cleft palate
23327	NEDD4L	HP:0008936	Axial hypotonia
23327	NEDD4L	HP:0002021	Pyloric stenosis
23327	NEDD4L	HP:0002020	Gastroesophageal reflux
23327	NEDD4L	HP:0004691	2-3 toe syndactyly
23327	NEDD4L	HP:0002079	Hypoplasia of the corpus callosum
23327	NEDD4L	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger
23327	NEDD4L	HP:0002121	Generalized non-motor (absence) seizure
23327	NEDD4L	HP:0002126	Polymicrogyria
23327	NEDD4L	HP:0002188	Delayed CNS myelination
23327	NEDD4L	HP:0002194	Delayed gross motor development
23327	NEDD4L	HP:0002190	Choroid plexus cyst
23327	NEDD4L	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger
23327	NEDD4L	HP:0003593	Infantile onset
23327	NEDD4L	HP:0003577	Congenital onset
23327	NEDD4L	HP:0100704	Cerebral visual impairment
23327	NEDD4L	HP:0010712	1-4 toe syndactyly
23327	NEDD4L	HP:0010705	4-5 finger syndactyly
23327	NEDD4L	HP:0100790	Hernia
23327	NEDD4L	HP:0002282	Gray matter heterotopia
23327	NEDD4L	HP:0011968	Feeding difficulties
23327	NEDD4L	HP:0020049	Exodeviation
23327	NEDD4L	HP:0007165	Periventricular heterotopia
23327	NEDD4L	HP:0003623	Neonatal onset
23327	NEDD4L	HP:0004942	Aortic aneurysm
23327	NEDD4L	HP:0004209	Clinodactyly of the 5th finger
23327	NEDD4L	HP:0000678	Dental crowding
23327	NEDD4L	HP:0012639	Abnormal nervous system morphology
23327	NEDD4L	HP:0000666	Horizontal nystagmus
23327	NEDD4L	HP:0000750	Delayed speech and language development
23327	NEDD4L	HP:0003196	Short nose
23327	NEDD4L	HP:0034391	Elbow contracture
23327	NEDD4L	HP:0000963	Thin skin
23327	NEDD4L	HP:0000276	Long face
23327	NEDD4L	HP:0000268	Dolichocephaly
23327	NEDD4L	HP:0006380	Knee flexion contracture
23327	NEDD4L	HP:0000201	Pierre-Robin sequence
23327	NEDD4L	HP:0001508	Failure to thrive
23327	NEDD4L	HP:0002999	Patellar dislocation
23327	NEDD4L	HP:0000347	Micrognathia
23327	NEDD4L	HP:0000316	Hypertelorism
23327	NEDD4L	HP:0001643	Patent ductus arteriosus
23327	NEDD4L	HP:0000311	Round face
23327	NEDD4L	HP:0001659	Aortic regurgitation
23327	NEDD4L	HP:0001654	Abnormal heart valve morphology
23327	NEDD4L	HP:0001629	Ventricular septal defect
23327	NEDD4L	HP:0000308	Microretrognathia
23327	NEDD4L	HP:0032988	Persistent head lag
23327	NEDD4L	HP:0000407	Sensorineural hearing impairment
23327	NEDD4L	HP:0012469	Infantile spasms
23327	NEDD4L	HP:0000490	Deeply set eye
23327	NEDD4L	HP:0000463	Anteverted nares
23327	NEDD4L	HP:0001762	Talipes equinovarus
23327	NEDD4L	HP:0000520	Proptosis
23327	NEDD4L	HP:0001892	Abnormal bleeding
23327	NEDD4L	HP:0000543	Optic disc pallor
23327	NEDD4L	HP:0000545	Myopia
23328	SASH1	HP:0007441	Hyperpigmented/hypopigmented macules
23328	SASH1	HP:0000007	Autosomal recessive inheritance
23328	SASH1	HP:0000006	Autosomal dominant inheritance
23328	SASH1	HP:0001480	Freckling
23328	SASH1	HP:0005987	Multinodular goiter
23328	SASH1	HP:0003593	Infantile onset
23328	SASH1	HP:0008404	Nail dystrophy
23328	SASH1	HP:0009719	Hypomelanotic macule
23328	SASH1	HP:0002293	Alopecia of scalp
23328	SASH1	HP:0001034	Hypermelanotic macule
23328	SASH1	HP:0000982	Palmoplantar keratoderma
23328	SASH1	HP:0000958	Dry skin
23328	SASH1	HP:0040189	Scaling skin
23328	SASH1	HP:0001596	Alopecia
23328	SASH1	HP:0002860	Squamous cell carcinoma
23328	SASH1	HP:0006480	Premature loss of teeth
23328	SASH1	HP:0000524	Conjunctival telangiectasia
23334	SZT2	HP:0007270	Atypical absence seizure
23334	SZT2	HP:0002421	Poor head control
23334	SZT2	HP:0001298	Encephalopathy
23334	SZT2	HP:0001290	Generalized hypotonia
23334	SZT2	HP:0001273	Abnormal corpus callosum morphology
23334	SZT2	HP:0001268	Mental deterioration
23334	SZT2	HP:0001250	Seizure
23334	SZT2	HP:0001252	Hypotonia
23334	SZT2	HP:0001251	Ataxia
23334	SZT2	HP:0001249	Intellectual disability
23334	SZT2	HP:0001265	Hyporeflexia
23334	SZT2	HP:0001263	Global developmental delay
23334	SZT2	HP:0001257	Spasticity
23334	SZT2	HP:0007359	Focal-onset seizure
23334	SZT2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
23334	SZT2	HP:0002553	Highly arched eyebrow
23334	SZT2	HP:0002521	Hypsarrhythmia
23334	SZT2	HP:0002509	Limb hypertonia
23334	SZT2	HP:0001344	Absent speech
23334	SZT2	HP:0000007	Autosomal recessive inheritance
23334	SZT2	HP:0001337	Tremor
23334	SZT2	HP:0001336	Myoclonus
23334	SZT2	HP:0001315	Reduced tendon reflexes
23334	SZT2	HP:0002020	Gastroesophageal reflux
23334	SZT2	HP:0002063	Rigidity
23334	SZT2	HP:0002059	Cerebral atrophy
23334	SZT2	HP:0002121	Generalized non-motor (absence) seizure
23334	SZT2	HP:0002133	Status epilepticus
23334	SZT2	HP:0002197	Generalized-onset seizure
23334	SZT2	HP:0003593	Infantile onset
23334	SZT2	HP:0100710	Impulsivity
23334	SZT2	HP:0200134	Epileptic encephalopathy
23334	SZT2	HP:0007018	Attention deficit hyperactivity disorder
23334	SZT2	HP:0011968	Feeding difficulties
23334	SZT2	HP:0007074	Thick corpus callosum
23334	SZT2	HP:0002376	Developmental regression
23334	SZT2	HP:0002355	Difficulty walking
23334	SZT2	HP:0002353	EEG abnormality
23334	SZT2	HP:0002317	Unsteady gait
23334	SZT2	HP:0010844	EEG with multifocal slow activity
23334	SZT2	HP:0100660	Dyskinesia
23334	SZT2	HP:0000639	Nystagmus
23334	SZT2	HP:0000648	Optic atrophy
23334	SZT2	HP:0000668	Hypodontia
23334	SZT2	HP:0004322	Short stature
23334	SZT2	HP:0004305	Involuntary movements
23334	SZT2	HP:0012736	Profound global developmental delay
23334	SZT2	HP:0000750	Delayed speech and language development
23334	SZT2	HP:0000717	Autism
23334	SZT2	HP:0000708	Atypical behavior
23334	SZT2	HP:0011443	Abnormality of coordination
23334	SZT2	HP:0000252	Microcephaly
23334	SZT2	HP:0001562	Oligohydramnios
23334	SZT2	HP:0001561	Polyhydramnios
23334	SZT2	HP:0001558	Decreased fetal movement
23334	SZT2	HP:0001508	Failure to thrive
23334	SZT2	HP:0032792	Tonic seizure
23334	SZT2	HP:0000348	High forehead
23334	SZT2	HP:0001659	Aortic regurgitation
23334	SZT2	HP:0001631	Atrial septal defect
23334	SZT2	HP:0000494	Downslanted palpebral fissures
23334	SZT2	HP:0012444	Brain atrophy
23334	SZT2	HP:0012447	Abnormal myelination
23334	SZT2	HP:0000508	Ptosis
23334	SZT2	HP:0000504	Abnormality of vision
23334	SZT2	HP:0012547	Abnormal involuntary eye movements
23334	SZT2	HP:0000546	Retinal degeneration
23345	SYNE1	HP:0001188	Hand clenching
23345	SYNE1	HP:0001181	Adducted thumb
23345	SYNE1	HP:0002486	Myotonia
23345	SYNE1	HP:0002495	Impaired vibratory sensation
23345	SYNE1	HP:0002493	Upper motor neuron dysfunction
23345	SYNE1	HP:0007267	Chronic axonal neuropathy
23345	SYNE1	HP:0003701	Proximal muscle weakness
23345	SYNE1	HP:0001290	Generalized hypotonia
23345	SYNE1	HP:0001272	Cerebellar atrophy
23345	SYNE1	HP:0001271	Polyneuropathy
23345	SYNE1	HP:0001270	Motor delay
23345	SYNE1	HP:0001288	Gait disturbance
23345	SYNE1	HP:0001284	Areflexia
23345	SYNE1	HP:0001252	Hypotonia
23345	SYNE1	HP:0001251	Ataxia
23345	SYNE1	HP:0001249	Intellectual disability
23345	SYNE1	HP:0001265	Hyporeflexia
23345	SYNE1	HP:0001260	Dysarthria
23345	SYNE1	HP:0001257	Spasticity
23345	SYNE1	HP:0007366	Atrophy/Degeneration affecting the brainstem
23345	SYNE1	HP:0007340	Lower limb muscle weakness
23345	SYNE1	HP:0002540	Inability to walk
23345	SYNE1	HP:0002515	Waddling gait
23345	SYNE1	HP:0002500	Abnormal cerebral white matter morphology
23345	SYNE1	HP:0003805	Rimmed vacuoles
23345	SYNE1	HP:0001371	Flexion contracture
23345	SYNE1	HP:0001387	Joint stiffness
23345	SYNE1	HP:0000020	Urinary incontinence
23345	SYNE1	HP:0001347	Hyperreflexia
23345	SYNE1	HP:0000028	Cryptorchidism
23345	SYNE1	HP:0008897	Postnatal growth retardation
23345	SYNE1	HP:0000007	Autosomal recessive inheritance
23345	SYNE1	HP:0000006	Autosomal dominant inheritance
23345	SYNE1	HP:0001310	Dysmetria
23345	SYNE1	HP:0002650	Scoliosis
23345	SYNE1	HP:0001319	Neonatal hypotonia
23345	SYNE1	HP:0001315	Reduced tendon reflexes
23345	SYNE1	HP:0008994	Proximal muscle weakness in lower limbs
23345	SYNE1	HP:0008997	Proximal muscle weakness in upper limbs
23345	SYNE1	HP:0008948	Proximal upper limb amyotrophy
23345	SYNE1	HP:0008956	Proximal lower limb amyotrophy
23345	SYNE1	HP:0008935	Generalized neonatal hypotonia
23345	SYNE1	HP:0025402	Square-wave jerks
23345	SYNE1	HP:0002751	Kyphoscoliosis
23345	SYNE1	HP:0002747	Respiratory insufficiency due to muscle weakness
23345	SYNE1	HP:0003307	Hyperlordosis
23345	SYNE1	HP:0003306	Spinal rigidity
23345	SYNE1	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
23345	SYNE1	HP:0011807	Type 1 muscle fiber atrophy
23345	SYNE1	HP:0002086	Abnormality of the respiratory system
23345	SYNE1	HP:0002091	Restrictive ventilatory defect
23345	SYNE1	HP:0002066	Gait ataxia
23345	SYNE1	HP:0002061	Lower limb spasticity
23345	SYNE1	HP:0003390	Sensory axonal neuropathy
23345	SYNE1	HP:0003391	Gowers sign
23345	SYNE1	HP:0002070	Limb ataxia
23345	SYNE1	HP:0003477	Peripheral axonal neuropathy
23345	SYNE1	HP:0002155	Hypertriglyceridemia
23345	SYNE1	HP:0003487	Babinski sign
23345	SYNE1	HP:0003458	EMG: myopathic abnormalities
23345	SYNE1	HP:0003445	EMG: neuropathic changes
23345	SYNE1	HP:0003418	Back pain
23345	SYNE1	HP:0002194	Delayed gross motor development
23345	SYNE1	HP:0003581	Adult onset
23345	SYNE1	HP:0003560	Muscular dystrophy
23345	SYNE1	HP:0003557	Increased variability in muscle fiber diameter
23345	SYNE1	HP:0430025	Bilateral facial palsy
23345	SYNE1	HP:0002380	Fasciculations
23345	SYNE1	HP:0003691	Scapular winging
23345	SYNE1	HP:0003676	Progressive
23345	SYNE1	HP:0003687	Centrally nucleated skeletal muscle fibers
23345	SYNE1	HP:0003677	Slowly progressive
23345	SYNE1	HP:0007126	Proximal amyotrophy
23345	SYNE1	HP:0002312	Clumsiness
23345	SYNE1	HP:0007178	Motor polyneuropathy
23345	SYNE1	HP:0000639	Nystagmus
23345	SYNE1	HP:0031960	Arm dystonia
23345	SYNE1	HP:0031936	Delayed ability to walk
23345	SYNE1	HP:0000767	Pectus excavatum
23345	SYNE1	HP:0000736	Short attention span
23345	SYNE1	HP:0011471	Gastrostomy tube feeding in infancy
23345	SYNE1	HP:0012785	Flexion contracture of finger
23345	SYNE1	HP:0011463	Childhood onset
23345	SYNE1	HP:0011461	Fetal onset
23345	SYNE1	HP:0011448	Ankle clonus
23345	SYNE1	HP:0009125	Lipodystrophy
23345	SYNE1	HP:0003198	Myopathy
23345	SYNE1	HP:0000912	Sprengel anomaly
23345	SYNE1	HP:0003141	Increased LDL cholesterol concentration
23345	SYNE1	HP:0040081	Abnormal circulating creatine kinase concentration
23345	SYNE1	HP:0003236	Elevated circulating creatine kinase concentration
23345	SYNE1	HP:0003202	Skeletal muscle atrophy
23345	SYNE1	HP:0008064	Ichthyosis
23345	SYNE1	HP:0100297	Increased endomysial connective tissue
23345	SYNE1	HP:0000276	Long face
23345	SYNE1	HP:0005144	Ventricular septal hypertrophy
23345	SYNE1	HP:0005115	Supraventricular arrhythmia
23345	SYNE1	HP:0007772	Impaired smooth pursuit
23345	SYNE1	HP:0002808	Kyphosis
23345	SYNE1	HP:0002804	Arthrogryposis multiplex congenita
23345	SYNE1	HP:0000252	Microcephaly
23345	SYNE1	HP:0001561	Polyhydramnios
23345	SYNE1	HP:0001558	Decreased fetal movement
23345	SYNE1	HP:0001518	Small for gestational age
23345	SYNE1	HP:0030051	Tip-toe gait
23345	SYNE1	HP:0001513	Obesity
23345	SYNE1	HP:0030200	Fatiguable weakness of proximal limb muscles
23345	SYNE1	HP:0001605	Vocal cord paralysis
23345	SYNE1	HP:0005191	Congenital knee dislocation
23345	SYNE1	HP:0005155	Ventricular escape rhythm
23345	SYNE1	HP:0030117	Absent muscle fiber emerin
23345	SYNE1	HP:0000343	Long philtrum
23345	SYNE1	HP:0001678	Atrioventricular block
23345	SYNE1	HP:0001645	Sudden cardiac death
23345	SYNE1	HP:0001644	Dilated cardiomyopathy
23345	SYNE1	HP:0002987	Elbow flexion contracture
23345	SYNE1	HP:0001639	Hypertrophic cardiomyopathy
23345	SYNE1	HP:0030319	Weakness of facial musculature
23345	SYNE1	HP:0000400	Macrotia
23345	SYNE1	HP:0005280	Depressed nasal bridge
23345	SYNE1	HP:0000486	Strabismus
23345	SYNE1	HP:0000467	Neck muscle weakness
23345	SYNE1	HP:0001771	Achilles tendon contracture
23345	SYNE1	HP:0001776	Bilateral talipes equinovarus
23345	SYNE1	HP:0001762	Talipes equinovarus
23345	SYNE1	HP:0001761	Pes cavus
23345	SYNE1	HP:0031729	Moderate hypermetropia
23345	SYNE1	HP:0005469	Flat occiput
23345	SYNE1	HP:0006785	Limb-girdle muscular dystrophy
23345	SYNE1	HP:0000508	Ptosis
23345	SYNE1	HP:0000597	Ophthalmoparesis
23345	SYNE1	HP:0000570	Abnormal saccadic eye movements
23345	SYNE1	HP:0000540	Hypermetropia
23347	SMCHD1	HP:0009927	Aplasia of the nose
23347	SMCHD1	HP:0009932	Single naris
23347	SMCHD1	HP:0003749	Pelvic girdle muscle weakness
23347	SMCHD1	HP:0001249	Intellectual disability
23347	SMCHD1	HP:0008736	Hypoplasia of penis
23347	SMCHD1	HP:0010984	Digenic inheritance
23347	SMCHD1	HP:0000059	Hypoplastic labia majora
23347	SMCHD1	HP:0000044	Hypogonadotropic hypogonadism
23347	SMCHD1	HP:0000054	Micropenis
23347	SMCHD1	HP:0000047	Hypospadias
23347	SMCHD1	HP:0000023	Inguinal hernia
23347	SMCHD1	HP:0000028	Cryptorchidism
23347	SMCHD1	HP:0000006	Autosomal dominant inheritance
23347	SMCHD1	HP:0000193	Bifid uvula
23347	SMCHD1	HP:0000176	Submucous cleft hard palate
23347	SMCHD1	HP:0000175	Cleft palate
23347	SMCHD1	HP:0000135	Hypogonadism
23347	SMCHD1	HP:0006352	Failure of eruption of permanent teeth
23347	SMCHD1	HP:0410030	Cleft lip
23347	SMCHD1	HP:0008970	Scapulohumeral muscular dystrophy
23347	SMCHD1	HP:0040326	Hypoplasia of the olfactory bulb
23347	SMCHD1	HP:0003307	Hyperlordosis
23347	SMCHD1	HP:0011800	Midface retrusion
23347	SMCHD1	HP:0100540	Palpebral edema
23347	SMCHD1	HP:0100596	Absent nares
23347	SMCHD1	HP:0003457	EMG abnormality
23347	SMCHD1	HP:0003581	Adult onset
23347	SMCHD1	HP:0010628	Facial palsy
23347	SMCHD1	HP:0003691	Scapular winging
23347	SMCHD1	HP:0000646	Amblyopia
23347	SMCHD1	HP:0000618	Blindness
23347	SMCHD1	HP:0000612	Iris coloboma
23347	SMCHD1	HP:0009023	Abdominal wall muscle weakness
23347	SMCHD1	HP:0009027	Foot dorsiflexor weakness
23347	SMCHD1	HP:0000692	Tooth malposition
23347	SMCHD1	HP:0000689	Dental malocclusion
23347	SMCHD1	HP:0000685	Hypoplasia of teeth
23347	SMCHD1	HP:0000664	Synophrys
23347	SMCHD1	HP:0030664	Beevor's sign
23347	SMCHD1	HP:0030680	Abnormality of cardiovascular system morphology
23347	SMCHD1	HP:0000771	Gynecomastia
23347	SMCHD1	HP:0000786	Primary amenorrhea
23347	SMCHD1	HP:0004409	Hyposmia
23347	SMCHD1	HP:0003236	Elevated circulating creatine kinase concentration
23347	SMCHD1	HP:0003241	External genital hypoplasia
23347	SMCHD1	HP:0003202	Skeletal muscle atrophy
23347	SMCHD1	HP:0008046	Abnormal retinal vascular morphology
23347	SMCHD1	HP:0000298	Mask-like facies
23347	SMCHD1	HP:0000218	High palate
23347	SMCHD1	HP:0000377	Abnormal pinna morphology
23347	SMCHD1	HP:0000365	Hearing impairment
23347	SMCHD1	HP:0000316	Hypertelorism
23347	SMCHD1	HP:0000309	Abnormal midface morphology
23347	SMCHD1	HP:0000499	Abnormal eyelash morphology
23347	SMCHD1	HP:0000407	Sensorineural hearing impairment
23347	SMCHD1	HP:0000405	Conductive hearing impairment
23347	SMCHD1	HP:0000458	Anosmia
23347	SMCHD1	HP:0000453	Choanal atresia
23347	SMCHD1	HP:0000413	Atresia of the external auditory canal
23347	SMCHD1	HP:0011268	Absent tragus
23347	SMCHD1	HP:0006784	Paranasal sinus hypoplasia
23347	SMCHD1	HP:0000518	Cataract
23347	SMCHD1	HP:0000528	Anophthalmia
23347	SMCHD1	HP:0000589	Coloboma
23347	SMCHD1	HP:0000572	Visual loss
23347	SMCHD1	HP:0000568	Microphthalmia
23347	SMCHD1	HP:0000564	Lacrimal duct atresia
23363	OBSL1	HP:0001374	Congenital hip dislocation
23363	OBSL1	HP:0000047	Hypospadias
23363	OBSL1	HP:0002680	J-shaped sella turcica
23363	OBSL1	HP:0008839	Hypoplastic pelvis
23363	OBSL1	HP:0000007	Autosomal recessive inheritance
23363	OBSL1	HP:0002650	Scoliosis
23363	OBSL1	HP:0000144	Decreased fertility
23363	OBSL1	HP:0002750	Delayed skeletal maturation
23363	OBSL1	HP:0002007	Frontal bossing
23363	OBSL1	HP:0003307	Hyperlordosis
23363	OBSL1	HP:0011800	Midface retrusion
23363	OBSL1	HP:0003510	Severe short stature
23363	OBSL1	HP:0003691	Scapular winging
23363	OBSL1	HP:0100659	Abnormal cerebral vascular morphology
23363	OBSL1	HP:0009811	Abnormality of the elbow
23363	OBSL1	HP:0100625	Enlarged thorax
23363	OBSL1	HP:0004209	Clinodactyly of the 5th finger
23363	OBSL1	HP:0000682	Abnormal dental enamel morphology
23363	OBSL1	HP:0000684	Delayed eruption of teeth
23363	OBSL1	HP:0000689	Dental malocclusion
23363	OBSL1	HP:0004322	Short stature
23363	OBSL1	HP:0005692	Joint hyperflexibility
23363	OBSL1	HP:0003022	Hypoplasia of the ulna
23363	OBSL1	HP:0000768	Pectus carinatum
23363	OBSL1	HP:0011461	Fetal onset
23363	OBSL1	HP:0003100	Slender long bone
23363	OBSL1	HP:0003175	Hypoplastic ischia
23363	OBSL1	HP:0003173	Hypoplastic pubic bone
23363	OBSL1	HP:0004482	Relative macrocephaly
23363	OBSL1	HP:0000888	Horizontal ribs
23363	OBSL1	HP:0000883	Thin ribs
23363	OBSL1	HP:0009237	Short 5th finger
23363	OBSL1	HP:0004570	Increased vertebral height
23363	OBSL1	HP:0010306	Short thorax
23363	OBSL1	HP:0000944	Abnormal metaphysis morphology
23363	OBSL1	HP:0000272	Malar flattening
23363	OBSL1	HP:0000268	Dolichocephaly
23363	OBSL1	HP:0030084	Clinodactyly
23363	OBSL1	HP:0002808	Kyphosis
23363	OBSL1	HP:0000218	High palate
23363	OBSL1	HP:0000232	Everted lower lip vermilion
23363	OBSL1	HP:0001518	Small for gestational age
23363	OBSL1	HP:0001511	Intrauterine growth retardation
23363	OBSL1	HP:0002938	Lumbar hyperlordosis
23363	OBSL1	HP:0000343	Long philtrum
23363	OBSL1	HP:0000337	Broad forehead
23363	OBSL1	HP:0002983	Micromelia
23363	OBSL1	HP:0000325	Triangular face
23363	OBSL1	HP:0000307	Pointed chin
23363	OBSL1	HP:0005274	Prominent nasal tip
23363	OBSL1	HP:0005280	Depressed nasal bridge
23363	OBSL1	HP:0012471	Thick vermilion border
23363	OBSL1	HP:0000463	Anteverted nares
23363	OBSL1	HP:0000470	Short neck
23363	OBSL1	HP:0012428	Prominent calcaneus
23363	OBSL1	HP:0000414	Bulbous nose
23363	OBSL1	HP:0000411	Protruding ear
23363	OBSL1	HP:0001838	Rocker bottom foot
23363	OBSL1	HP:0011220	Prominent forehead
23363	OBSL1	HP:0000574	Thick eyebrow
23370	ARHGEF18	HP:0001123	Visual field defect
23370	ARHGEF18	HP:0001249	Intellectual disability
23370	ARHGEF18	HP:0008736	Hypoplasia of penis
23370	ARHGEF18	HP:0001347	Hyperreflexia
23370	ARHGEF18	HP:0000035	Abnormal testis morphology
23370	ARHGEF18	HP:0000007	Autosomal recessive inheritance
23370	ARHGEF18	HP:0000135	Hypogonadism
23370	ARHGEF18	HP:0007675	Progressive night blindness
23370	ARHGEF18	HP:0007663	Reduced visual acuity
23370	ARHGEF18	HP:0005978	Type II diabetes mellitus
23370	ARHGEF18	HP:0000639	Nystagmus
23370	ARHGEF18	HP:0000648	Optic atrophy
23370	ARHGEF18	HP:0000618	Blindness
23370	ARHGEF18	HP:0000613	Photophobia
23370	ARHGEF18	HP:0000602	Ophthalmoplegia
23370	ARHGEF18	HP:0000662	Nyctalopia
23370	ARHGEF18	HP:0030786	Photopsia
23370	ARHGEF18	HP:0011505	Cystoid macular edema
23370	ARHGEF18	HP:0000842	Hyperinsulinemia
23370	ARHGEF18	HP:0000987	Atypical scarring of skin
23370	ARHGEF18	HP:0008046	Abnormal retinal vascular morphology
23370	ARHGEF18	HP:0007703	Abnormality of retinal pigmentation
23370	ARHGEF18	HP:0001513	Obesity
23370	ARHGEF18	HP:0000407	Sensorineural hearing impairment
23370	ARHGEF18	HP:0000405	Conductive hearing impairment
23370	ARHGEF18	HP:0000463	Anteverted nares
23370	ARHGEF18	HP:0000431	Wide nasal bridge
23370	ARHGEF18	HP:0000518	Cataract
23370	ARHGEF18	HP:0000512	Abnormal electroretinogram
23370	ARHGEF18	HP:0000505	Visual impairment
23370	ARHGEF18	HP:0000501	Glaucoma
23370	ARHGEF18	HP:0000563	Keratoconus
23370	ARHGEF18	HP:0000543	Optic disc pallor
23384	SPECC1L	HP:0001169	Broad palm
23384	SPECC1L	HP:0001156	Brachydactyly
23384	SPECC1L	HP:0001195	Single umbilical artery
23384	SPECC1L	HP:0003745	Sporadic
23384	SPECC1L	HP:0025269	Panic attack
23384	SPECC1L	HP:0001263	Global developmental delay
23384	SPECC1L	HP:0006101	Finger syndactyly
23384	SPECC1L	HP:0002553	Highly arched eyebrow
23384	SPECC1L	HP:0000086	Ectopic kidney
23384	SPECC1L	HP:0000049	Shawl scrotum
23384	SPECC1L	HP:0000034	Hydrocele testis
23384	SPECC1L	HP:0000028	Cryptorchidism
23384	SPECC1L	HP:0006191	Deep palmar crease
23384	SPECC1L	HP:0000006	Autosomal dominant inheritance
23384	SPECC1L	HP:0002616	Aortic root aneurysm
23384	SPECC1L	HP:0001488	Bilateral ptosis
23384	SPECC1L	HP:0000175	Cleft palate
23384	SPECC1L	HP:0006288	Advanced eruption of teeth
23384	SPECC1L	HP:0002007	Frontal bossing
23384	SPECC1L	HP:0002089	Pulmonary hypoplasia
23384	SPECC1L	HP:0010458	Female pseudohermaphroditism
23384	SPECC1L	HP:0003577	Congenital onset
23384	SPECC1L	HP:0020073	Hypopigmented macule
23384	SPECC1L	HP:0200055	Small hand
23384	SPECC1L	HP:0010751	Dimple chin
23384	SPECC1L	HP:0004209	Clinodactyly of the 5th finger
23384	SPECC1L	HP:0000678	Dental crowding
23384	SPECC1L	HP:0000695	Natal tooth
23384	SPECC1L	HP:0004322	Short stature
23384	SPECC1L	HP:0000767	Pectus excavatum
23384	SPECC1L	HP:0000739	Anxiety
23384	SPECC1L	HP:0000729	Autistic behavior
23384	SPECC1L	HP:0004442	Sagittal craniosynostosis
23384	SPECC1L	HP:0004440	Coronal craniosynostosis
23384	SPECC1L	HP:0003196	Short nose
23384	SPECC1L	HP:0004467	Preauricular pit
23384	SPECC1L	HP:0000813	Bicornuate uterus
23384	SPECC1L	HP:0011675	Arrhythmia
23384	SPECC1L	HP:0000248	Brachycephaly
23384	SPECC1L	HP:0000219	Thin upper lip vermilion
23384	SPECC1L	HP:0000233	Thin vermilion border
23384	SPECC1L	HP:0000232	Everted lower lip vermilion
23384	SPECC1L	HP:0001537	Umbilical hernia
23384	SPECC1L	HP:0001539	Omphalocele
23384	SPECC1L	HP:0000202	Orofacial cleft
23384	SPECC1L	HP:0000204	Cleft upper lip
23384	SPECC1L	HP:0011039	Abnormal helix morphology
23384	SPECC1L	HP:0000369	Low-set ears
23384	SPECC1L	HP:0000343	Long philtrum
23384	SPECC1L	HP:0000349	Widow's peak
23384	SPECC1L	HP:0000347	Micrognathia
23384	SPECC1L	HP:0000316	Hypertelorism
23384	SPECC1L	HP:0001643	Patent ductus arteriosus
23384	SPECC1L	HP:0000311	Round face
23384	SPECC1L	HP:0001629	Ventricular septal defect
23384	SPECC1L	HP:0001636	Tetralogy of Fallot
23384	SPECC1L	HP:0001631	Atrial septal defect
23384	SPECC1L	HP:0005280	Depressed nasal bridge
23384	SPECC1L	HP:0000486	Strabismus
23384	SPECC1L	HP:0000494	Downslanted palpebral fissures
23384	SPECC1L	HP:0000463	Anteverted nares
23384	SPECC1L	HP:0031576	Tessier number 4 facial cleft
23384	SPECC1L	HP:0000431	Wide nasal bridge
23384	SPECC1L	HP:0000426	Prominent nasal bridge
23384	SPECC1L	HP:0000520	Proptosis
23384	SPECC1L	HP:0000508	Ptosis
23384	SPECC1L	HP:0001831	Short toe
23384	SPECC1L	HP:0000582	Upslanted palpebral fissure
23384	SPECC1L	HP:0000589	Coloboma
23384	SPECC1L	HP:0011220	Prominent forehead
23384	SPECC1L	HP:0001884	Talipes calcaneovalgus
23384	SPECC1L	HP:0000574	Thick eyebrow
23384	SPECC1L	HP:0000568	Microphthalmia
23385	NCSTN	HP:0000006	Autosomal dominant inheritance
23385	NCSTN	HP:0000987	Atypical scarring of skin
23385	NCSTN	HP:0040154	Acne inversa
23387	SIK3	HP:0001156	Brachydactyly
23387	SIK3	HP:0009891	Underdeveloped supraorbital ridges
23387	SIK3	HP:0001250	Seizure
23387	SIK3	HP:0001263	Global developmental delay
23387	SIK3	HP:0025336	Delayed ability to sit
23387	SIK3	HP:0002694	Sclerosis of skull base
23387	SIK3	HP:0002691	Platybasia
23387	SIK3	HP:0008788	Delayed pubic bone ossification
23387	SIK3	HP:0000007	Autosomal recessive inheritance
23387	SIK3	HP:0008905	Rhizomelia
23387	SIK3	HP:0002721	Immunodeficiency
23387	SIK3	HP:0002019	Constipation
23387	SIK3	HP:0004691	2-3 toe syndactyly
23387	SIK3	HP:0002007	Frontal bossing
23387	SIK3	HP:0002099	Asthma
23387	SIK3	HP:0010582	Irregular epiphyses
23387	SIK3	HP:0003577	Congenital onset
23387	SIK3	HP:0011968	Feeding difficulties
23387	SIK3	HP:0002308	Chiari malformation
23387	SIK3	HP:0004209	Clinodactyly of the 5th finger
23387	SIK3	HP:0003049	Ulnar deviation of the wrist
23387	SIK3	HP:0003027	Mesomelia
23387	SIK3	HP:0003025	Metaphyseal irregularity
23387	SIK3	HP:0000767	Pectus excavatum
23387	SIK3	HP:0000750	Delayed speech and language development
23387	SIK3	HP:0003193	Allergic rhinitis
23387	SIK3	HP:0003155	Elevated circulating alkaline phosphatase concentration
23387	SIK3	HP:0034391	Elbow contracture
23387	SIK3	HP:0000978	Bruising susceptibility
23387	SIK3	HP:0000964	Eczema
23387	SIK3	HP:0006380	Knee flexion contracture
23387	SIK3	HP:0000238	Hydrocephalus
23387	SIK3	HP:0000218	High palate
23387	SIK3	HP:0002850	Decreased circulating total IgM
23387	SIK3	HP:0000316	Hypertelorism
23387	SIK3	HP:0001643	Patent ductus arteriosus
23387	SIK3	HP:0001631	Atrial septal defect
23387	SIK3	HP:0001734	Annular pancreas
23387	SIK3	HP:0030353	Decreased serum insulin-like growth factor 1
23389	MED13L	HP:0001155	Abnormality of the hand
23389	MED13L	HP:0001159	Syndactyly
23389	MED13L	HP:0002465	Poor speech
23389	MED13L	HP:0001290	Generalized hypotonia
23389	MED13L	HP:0001270	Motor delay
23389	MED13L	HP:0001252	Hypotonia
23389	MED13L	HP:0001251	Ataxia
23389	MED13L	HP:0001260	Dysarthria
23389	MED13L	HP:0001263	Global developmental delay
23389	MED13L	HP:0001357	Plagiocephaly
23389	MED13L	HP:0000028	Cryptorchidism
23389	MED13L	HP:0001328	Specific learning disability
23389	MED13L	HP:0000006	Autosomal dominant inheritance
23389	MED13L	HP:0000194	Open mouth
23389	MED13L	HP:0000158	Macroglossia
23389	MED13L	HP:0000154	Wide mouth
23389	MED13L	HP:0007633	Bilateral microphthalmos
23389	MED13L	HP:0002719	Recurrent infections
23389	MED13L	HP:0002714	Downturned corners of mouth
23389	MED13L	HP:0002007	Frontal bossing
23389	MED13L	HP:0011800	Midface retrusion
23389	MED13L	HP:0003593	Infantile onset
23389	MED13L	HP:0002236	Frontal upsweep of hair
23389	MED13L	HP:0002342	Intellectual disability, moderate
23389	MED13L	HP:0002353	EEG abnormality
23389	MED13L	HP:0002313	Spastic paraparesis
23389	MED13L	HP:0010841	Multifocal epileptiform discharges
23389	MED13L	HP:0002311	Incoordination
23389	MED13L	HP:0000687	Widely spaced teeth
23389	MED13L	HP:0004322	Short stature
23389	MED13L	HP:0005612	Arthrogryposis-like hand anomaly
23389	MED13L	HP:0000752	Hyperactivity
23389	MED13L	HP:0100025	Overfriendliness
23389	MED13L	HP:0000750	Delayed speech and language development
23389	MED13L	HP:0000718	Aggressive behavior
23389	MED13L	HP:0000717	Autism
23389	MED13L	HP:0000711	Restlessness
23389	MED13L	HP:0000713	Agitation
23389	MED13L	HP:0000729	Autistic behavior
23389	MED13L	HP:0000708	Atypical behavior
23389	MED13L	HP:0003196	Short nose
23389	MED13L	HP:0007700	Ocular anterior segment dysgenesis
23389	MED13L	HP:0000286	Epicanthus
23389	MED13L	HP:0000294	Low anterior hairline
23389	MED13L	HP:0030084	Clinodactyly
23389	MED13L	HP:0000248	Brachycephaly
23389	MED13L	HP:0000218	High palate
23389	MED13L	HP:0000232	Everted lower lip vermilion
23389	MED13L	HP:0001537	Umbilical hernia
23389	MED13L	HP:0012385	Camptodactyly
23389	MED13L	HP:0000384	Preauricular skin tag
23389	MED13L	HP:0000365	Hearing impairment
23389	MED13L	HP:0000369	Low-set ears
23389	MED13L	HP:0000341	Narrow forehead
23389	MED13L	HP:0001669	Transposition of the great arteries
23389	MED13L	HP:0000337	Broad forehead
23389	MED13L	HP:0000316	Hypertelorism
23389	MED13L	HP:0000311	Round face
23389	MED13L	HP:0000325	Triangular face
23389	MED13L	HP:0001655	Patent foramen ovale
23389	MED13L	HP:0001629	Ventricular septal defect
23389	MED13L	HP:0001627	Abnormal heart morphology
23389	MED13L	HP:0000303	Mandibular prognathia
23389	MED13L	HP:0000400	Macrotia
23389	MED13L	HP:0005280	Depressed nasal bridge
23389	MED13L	HP:0000486	Strabismus
23389	MED13L	HP:0000470	Short neck
23389	MED13L	HP:0000414	Bulbous nose
23389	MED13L	HP:0001760	Abnormal foot morphology
23389	MED13L	HP:0001762	Talipes equinovarus
23389	MED13L	HP:0000431	Wide nasal bridge
23389	MED13L	HP:0000508	Ptosis
23389	MED13L	HP:0000582	Upslanted palpebral fissure
23389	MED13L	HP:0011228	Horizontal eyebrow
23389	MED13L	HP:0000589	Coloboma
23389	MED13L	HP:0011220	Prominent forehead
23389	MED13L	HP:0000540	Hypermetropia
23389	MED13L	HP:0000545	Myopia
23394	ADNP	HP:0001182	Tapered finger
23394	ADNP	HP:0001156	Brachydactyly
23394	ADNP	HP:0001167	Abnormal finger morphology
23394	ADNP	HP:0001118	Juvenile cataract
23394	ADNP	HP:0025160	Abnormal temper tantrums
23394	ADNP	HP:0009890	High anterior hairline
23394	ADNP	HP:0008551	Microtia
23394	ADNP	HP:0002421	Poor head control
23394	ADNP	HP:0003763	Bruxism
23394	ADNP	HP:0001276	Hypertonia
23394	ADNP	HP:0001270	Motor delay
23394	ADNP	HP:0001250	Seizure
23394	ADNP	HP:0001252	Hypotonia
23394	ADNP	HP:0001249	Intellectual disability
23394	ADNP	HP:0002591	Polyphagia
23394	ADNP	HP:0001263	Global developmental delay
23394	ADNP	HP:0002572	Episodic vomiting
23394	ADNP	HP:0001212	Prominent fingertip pads
23394	ADNP	HP:0001388	Joint laxity
23394	ADNP	HP:0000023	Inguinal hernia
23394	ADNP	HP:0000020	Urinary incontinence
23394	ADNP	HP:0001357	Plagiocephaly
23394	ADNP	HP:0000028	Cryptorchidism
23394	ADNP	HP:0000010	Recurrent urinary tract infections
23394	ADNP	HP:0001344	Absent speech
23394	ADNP	HP:0000006	Autosomal dominant inheritance
23394	ADNP	HP:0002650	Scoliosis
23394	ADNP	HP:0000179	Thick lower lip vermilion
23394	ADNP	HP:0001488	Bilateral ptosis
23394	ADNP	HP:0000154	Wide mouth
23394	ADNP	HP:0007651	Ectropion of lower eyelids
23394	ADNP	HP:0008947	Infantile muscular hypotonia
23394	ADNP	HP:0008935	Generalized neonatal hypotonia
23394	ADNP	HP:0002705	High, narrow palate
23394	ADNP	HP:0006288	Advanced eruption of teeth
23394	ADNP	HP:0002788	Recurrent upper respiratory tract infections
23394	ADNP	HP:0000105	Enlarged kidney
23394	ADNP	HP:0002020	Gastroesophageal reflux
23394	ADNP	HP:0002019	Constipation
23394	ADNP	HP:0004691	2-3 toe syndactyly
23394	ADNP	HP:0002028	Chronic diarrhea
23394	ADNP	HP:0002015	Dysphagia
23394	ADNP	HP:0002013	Vomiting
23394	ADNP	HP:0003307	Hyperlordosis
23394	ADNP	HP:0011800	Midface retrusion
23394	ADNP	HP:0002098	Respiratory distress
23394	ADNP	HP:0002079	Hypoplasia of the corpus callosum
23394	ADNP	HP:0002059	Cerebral atrophy
23394	ADNP	HP:0010442	Polydactyly
23394	ADNP	HP:0002119	Ventriculomegaly
23394	ADNP	HP:0002167	Abnormality of speech or vocalization
23394	ADNP	HP:0002171	Gliosis
23394	ADNP	HP:0010529	Echolalia
23394	ADNP	HP:0003593	Infantile onset
23394	ADNP	HP:0003577	Congenital onset
23394	ADNP	HP:0100704	Cerebral visual impairment
23394	ADNP	HP:0002209	Sparse scalp hair
23394	ADNP	HP:0002205	Recurrent respiratory infections
23394	ADNP	HP:0200136	Oral-pharyngeal dysphagia
23394	ADNP	HP:0007042	Focal white matter lesions
23394	ADNP	HP:0010677	Enuresis nocturna
23394	ADNP	HP:0007018	Attention deficit hyperactivity disorder
23394	ADNP	HP:0011968	Feeding difficulties
23394	ADNP	HP:0010628	Facial palsy
23394	ADNP	HP:0002360	Sleep disturbance
23394	ADNP	HP:0002376	Developmental regression
23394	ADNP	HP:0001007	Hirsutism
23394	ADNP	HP:0200006	Slanting of the palpebral fissure
23394	ADNP	HP:0200055	Small hand
23394	ADNP	HP:0003623	Neonatal onset
23394	ADNP	HP:0003621	Juvenile onset
23394	ADNP	HP:0004209	Clinodactyly of the 5th finger
23394	ADNP	HP:0000637	Long palpebral fissure
23394	ADNP	HP:0000646	Amblyopia
23394	ADNP	HP:0000612	Iris coloboma
23394	ADNP	HP:0000625	Eyelid coloboma
23394	ADNP	HP:0001956	Truncal obesity
23394	ADNP	HP:0010055	Broad hallux
23394	ADNP	HP:0011344	Severe global developmental delay
23394	ADNP	HP:0012683	Pineal cyst
23394	ADNP	HP:0011343	Moderate global developmental delay
23394	ADNP	HP:0011342	Mild global developmental delay
23394	ADNP	HP:0000677	Oligodontia
23394	ADNP	HP:0000691	Microdontia
23394	ADNP	HP:0011327	Posterior plagiocephaly
23394	ADNP	HP:0000687	Widely spaced teeth
23394	ADNP	HP:0000670	Carious teeth
23394	ADNP	HP:0011304	Broad thumb
23394	ADNP	HP:0004322	Short stature
23394	ADNP	HP:0006956	Lateral ventricle dilatation
23394	ADNP	HP:0030680	Abnormality of cardiovascular system morphology
23394	ADNP	HP:0012745	Short palpebral fissure
23394	ADNP	HP:0000752	Hyperactivity
23394	ADNP	HP:0000767	Pectus excavatum
23394	ADNP	HP:0000737	Irritability
23394	ADNP	HP:0000739	Anxiety
23394	ADNP	HP:0000735	Impaired social interactions
23394	ADNP	HP:0000750	Delayed speech and language development
23394	ADNP	HP:0000718	Aggressive behavior
23394	ADNP	HP:0000717	Autism
23394	ADNP	HP:0000729	Autistic behavior
23394	ADNP	HP:0000722	Compulsive behaviors
23394	ADNP	HP:0011471	Gastrostomy tube feeding in infancy
23394	ADNP	HP:0003196	Short nose
23394	ADNP	HP:0000824	Decreased response to growth hormone stimulation test
23394	ADNP	HP:0010296	Ankyloglossia
23394	ADNP	HP:0040082	Happy demeanor
23394	ADNP	HP:0000954	Single transverse palmar crease
23394	ADNP	HP:0000963	Thin skin
23394	ADNP	HP:0045025	Narrow palpebral fissure
23394	ADNP	HP:0008093	Short 4th toe
23394	ADNP	HP:0000286	Epicanthus
23394	ADNP	HP:0000283	Broad face
23394	ADNP	HP:0000280	Coarse facial features
23394	ADNP	HP:0001597	Abnormality of the nail
23394	ADNP	HP:0000276	Long face
23394	ADNP	HP:0006385	Short lower limbs
23394	ADNP	HP:0000243	Trigonocephaly
23394	ADNP	HP:0000252	Microcephaly
23394	ADNP	HP:0000248	Brachycephaly
23394	ADNP	HP:0000219	Thin upper lip vermilion
23394	ADNP	HP:0000233	Thin vermilion border
23394	ADNP	HP:0000232	Everted lower lip vermilion
23394	ADNP	HP:0002857	Genu valgum
23394	ADNP	HP:0001537	Umbilical hernia
23394	ADNP	HP:0001508	Failure to thrive
23394	ADNP	HP:0002835	Aspiration
23394	ADNP	HP:0001511	Intrauterine growth retardation
23394	ADNP	HP:0001513	Obesity
23394	ADNP	HP:0000378	Cupped ear
23394	ADNP	HP:0005216	Impaired mastication
23394	ADNP	HP:0000358	Posteriorly rotated ears
23394	ADNP	HP:0000369	Low-set ears
23394	ADNP	HP:0000343	Long philtrum
23394	ADNP	HP:0032792	Tonic seizure
23394	ADNP	HP:0000319	Smooth philtrum
23394	ADNP	HP:0000316	Hypertelorism
23394	ADNP	HP:0030148	Heart murmur
23394	ADNP	HP:0000331	Short chin
23394	ADNP	HP:0001653	Mitral regurgitation
23394	ADNP	HP:0001627	Abnormal heart morphology
23394	ADNP	HP:0001631	Atrial septal defect
23394	ADNP	HP:0001634	Mitral valve prolapse
23394	ADNP	HP:0006610	Wide intermamillary distance
23394	ADNP	HP:0011147	Typical absence seizure
23394	ADNP	HP:0005280	Depressed nasal bridge
23394	ADNP	HP:0000483	Astigmatism
23394	ADNP	HP:0000486	Strabismus
23394	ADNP	HP:0000494	Downslanted palpebral fissures
23394	ADNP	HP:0000463	Anteverted nares
23394	ADNP	HP:0012450	Chronic constipation
23394	ADNP	HP:0000455	Broad nasal tip
23394	ADNP	HP:0001788	Premature rupture of membranes
23394	ADNP	HP:0012443	Abnormality of brain morphology
23394	ADNP	HP:0001763	Pes planus
23394	ADNP	HP:0001780	Abnormal toe morphology
23394	ADNP	HP:0012420	Meconium stained amniotic fluid
23394	ADNP	HP:0000411	Protruding ear
23394	ADNP	HP:0000431	Wide nasal bridge
23394	ADNP	HP:0001852	Sandal gap
23394	ADNP	HP:0000508	Ptosis
23394	ADNP	HP:0000505	Visual impairment
23394	ADNP	HP:0000582	Upslanted palpebral fissure
23394	ADNP	HP:0000577	Exotropia
23394	ADNP	HP:0011220	Prominent forehead
23394	ADNP	HP:0000540	Hypermetropia
23395	LARS2	HP:0001270	Motor delay
23395	LARS2	HP:0001250	Seizure
23395	LARS2	HP:0008724	Hypoplasia of the ovary
23395	LARS2	HP:0000013	Hypoplasia of the uterus
23395	LARS2	HP:0000007	Autosomal recessive inheritance
23395	LARS2	HP:0000175	Cleft palate
23395	LARS2	HP:0001410	Decreased liver function
23395	LARS2	HP:0100543	Cognitive impairment
23395	LARS2	HP:0002093	Respiratory insufficiency
23395	LARS2	HP:0002066	Gait ataxia
23395	LARS2	HP:0008209	Premature ovarian insufficiency
23395	LARS2	HP:0008214	Decreased serum estradiol
23395	LARS2	HP:0003577	Congenital onset
23395	LARS2	HP:0002353	EEG abnormality
23395	LARS2	HP:0001924	Sideroblastic anemia
23395	LARS2	HP:0000786	Primary amenorrhea
23395	LARS2	HP:0003128	Lactic acidosis
23395	LARS2	HP:0000876	Oligomenorrhea
23395	LARS2	HP:0000869	Secondary amenorrhea
23395	LARS2	HP:0000837	Increased circulating gonadotropin level
23395	LARS2	HP:0000813	Bicornuate uterus
23395	LARS2	HP:0000822	Hypertension
23395	LARS2	HP:0000939	Osteoporosis
23395	LARS2	HP:0011675	Arrhythmia
23395	LARS2	HP:0001562	Oligohydramnios
23395	LARS2	HP:0001519	Disproportionate tall stature
23395	LARS2	HP:0001511	Intrauterine growth retardation
23395	LARS2	HP:0001513	Obesity
23395	LARS2	HP:0025643	Tarlov cyst
23395	LARS2	HP:0001643	Patent ductus arteriosus
23395	LARS2	HP:0001629	Ventricular septal defect
23395	LARS2	HP:0002967	Cubitus valgus
23395	LARS2	HP:0000408	Progressive sensorineural hearing impairment
23395	LARS2	HP:0000486	Strabismus
23395	LARS2	HP:0001873	Thrombocytopenia
23396	PIP5K1C	HP:0003811	Neonatal death
23396	PIP5K1C	HP:0000007	Autosomal recessive inheritance
23396	PIP5K1C	HP:0002093	Respiratory insufficiency
23396	PIP5K1C	HP:0003202	Skeletal muscle atrophy
23396	PIP5K1C	HP:0002828	Multiple joint contractures
23396	PIP5K1C	HP:0002804	Arthrogryposis multiplex congenita
23397	NCAPH	HP:0000007	Autosomal recessive inheritance
23397	NCAPH	HP:0003577	Congenital onset
23397	NCAPH	HP:0002342	Intellectual disability, moderate
23397	NCAPH	HP:0000252	Microcephaly
23397	NCAPH	HP:0001518	Small for gestational age
23397	NCAPH	HP:0000340	Sloping forehead
23400	ATP13A2	HP:0002478	Progressive spastic quadriplegia
23400	ATP13A2	HP:0001167	Abnormal finger morphology
23400	ATP13A2	HP:0002495	Impaired vibratory sensation
23400	ATP13A2	HP:0002493	Upper motor neuron dysfunction
23400	ATP13A2	HP:0007256	Abnormal pyramidal sign
23400	ATP13A2	HP:0007240	Progressive gait ataxia
23400	ATP13A2	HP:0002425	Anarthria
23400	ATP13A2	HP:0001276	Hypertonia
23400	ATP13A2	HP:0001272	Cerebellar atrophy
23400	ATP13A2	HP:0001268	Mental deterioration
23400	ATP13A2	HP:0001289	Confusion
23400	ATP13A2	HP:0001288	Gait disturbance
23400	ATP13A2	HP:0001254	Lethargy
23400	ATP13A2	HP:0001256	Intellectual disability, mild
23400	ATP13A2	HP:0001250	Seizure
23400	ATP13A2	HP:0001251	Ataxia
23400	ATP13A2	HP:0001260	Dysarthria
23400	ATP13A2	HP:0001258	Spastic paraplegia
23400	ATP13A2	HP:0001257	Spasticity
23400	ATP13A2	HP:0007350	Hyperreflexia in upper limbs
23400	ATP13A2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
23400	ATP13A2	HP:0002518	Abnormal periventricular white matter morphology
23400	ATP13A2	HP:0002527	Falls
23400	ATP13A2	HP:0002510	Spastic tetraplegia
23400	ATP13A2	HP:0002506	Diffuse cerebral atrophy
23400	ATP13A2	HP:0031008	Lingual dystonia
23400	ATP13A2	HP:0025331	Upgaze palsy
23400	ATP13A2	HP:0000020	Urinary incontinence
23400	ATP13A2	HP:0001348	Brisk reflexes
23400	ATP13A2	HP:0001347	Hyperreflexia
23400	ATP13A2	HP:0001332	Dystonia
23400	ATP13A2	HP:0001324	Muscle weakness
23400	ATP13A2	HP:0000011	Neurogenic bladder
23400	ATP13A2	HP:0000012	Urinary urgency
23400	ATP13A2	HP:0000007	Autosomal recessive inheritance
23400	ATP13A2	HP:0001337	Tremor
23400	ATP13A2	HP:0001336	Myoclonus
23400	ATP13A2	HP:0001300	Parkinsonism
23400	ATP13A2	HP:0002607	Bowel incontinence
23400	ATP13A2	HP:0000183	Difficulty in tongue movements
23400	ATP13A2	HP:0008969	Leg muscle stiffness
23400	ATP13A2	HP:0025403	Stooped posture
23400	ATP13A2	HP:0002015	Dysphagia
23400	ATP13A2	HP:0003324	Generalized muscle weakness
23400	ATP13A2	HP:0030902	Palmomental reflex
23400	ATP13A2	HP:0100543	Cognitive impairment
23400	ATP13A2	HP:0002067	Bradykinesia
23400	ATP13A2	HP:0002066	Gait ataxia
23400	ATP13A2	HP:0002063	Rigidity
23400	ATP13A2	HP:0003390	Sensory axonal neuropathy
23400	ATP13A2	HP:0002079	Hypoplasia of the corpus callosum
23400	ATP13A2	HP:0002073	Progressive cerebellar ataxia
23400	ATP13A2	HP:0003477	Peripheral axonal neuropathy
23400	ATP13A2	HP:0003487	Babinski sign
23400	ATP13A2	HP:0003482	EMG: axonal abnormality
23400	ATP13A2	HP:0002120	Cerebral cortical atrophy
23400	ATP13A2	HP:0002174	Postural tremor
23400	ATP13A2	HP:0002172	Postural instability
23400	ATP13A2	HP:0010553	Oculogyric crisis
23400	ATP13A2	HP:0003581	Adult onset
23400	ATP13A2	HP:0007020	Progressive spastic paraplegia
23400	ATP13A2	HP:0007083	Hyperactive patellar reflex
23400	ATP13A2	HP:0020049	Exodeviation
23400	ATP13A2	HP:0002385	Paraparesis
23400	ATP13A2	HP:0002395	Lower limb hyperreflexia
23400	ATP13A2	HP:0002367	Visual hallucinations
23400	ATP13A2	HP:0002375	Hypokinesia
23400	ATP13A2	HP:0002339	Abnormal caudate nucleus morphology
23400	ATP13A2	HP:0002355	Difficulty walking
23400	ATP13A2	HP:0003678	Rapidly progressive
23400	ATP13A2	HP:0002322	Resting tremor
23400	ATP13A2	HP:0010830	Impaired tactile sensation
23400	ATP13A2	HP:0100660	Dyskinesia
23400	ATP13A2	HP:0007153	Progressive extrapyramidal movement disorder
23400	ATP13A2	HP:0002304	Akinesia
23400	ATP13A2	HP:0003621	Juvenile onset
23400	ATP13A2	HP:0000639	Nystagmus
23400	ATP13A2	HP:0000643	Blepharospasm
23400	ATP13A2	HP:0001945	Fever
23400	ATP13A2	HP:0000605	Supranuclear gaze palsy
23400	ATP13A2	HP:0000658	Eyelid apraxia
23400	ATP13A2	HP:0000666	Horizontal nystagmus
23400	ATP13A2	HP:0000738	Hallucinations
23400	ATP13A2	HP:0000736	Short attention span
23400	ATP13A2	HP:0000741	Apathy
23400	ATP13A2	HP:0000716	Depression
23400	ATP13A2	HP:0000718	Aggressive behavior
23400	ATP13A2	HP:0000726	Dementia
23400	ATP13A2	HP:0000725	Psychotic episodes
23400	ATP13A2	HP:0011462	Young adult onset
23400	ATP13A2	HP:0011446	Abnormality of higher mental function
23400	ATP13A2	HP:0004409	Hyposmia
23400	ATP13A2	HP:0003202	Skeletal muscle atrophy
23400	ATP13A2	HP:0008075	Progressive pes cavus
23400	ATP13A2	HP:0000298	Mask-like facies
23400	ATP13A2	HP:0012378	Fatigue
23400	ATP13A2	HP:0002936	Distal sensory impairment
23400	ATP13A2	HP:0000338	Hypomimic face
23400	ATP13A2	HP:0000317	Facial myokymia
23400	ATP13A2	HP:0000486	Strabismus
23400	ATP13A2	HP:0000458	Anosmia
23400	ATP13A2	HP:0000473	Torticollis
23400	ATP13A2	HP:0001760	Abnormal foot morphology
23400	ATP13A2	HP:0001761	Pes cavus
23400	ATP13A2	HP:0000514	Slow saccadic eye movements
23400	ATP13A2	HP:0000511	Vertical supranuclear gaze palsy
23404	EXOSC2	HP:0001156	Brachydactyly
23404	EXOSC2	HP:0001131	Corneal dystrophy
23404	EXOSC2	HP:0001272	Cerebellar atrophy
23404	EXOSC2	HP:0001270	Motor delay
23404	EXOSC2	HP:0001256	Intellectual disability, mild
23404	EXOSC2	HP:0001263	Global developmental delay
23404	EXOSC2	HP:0000007	Autosomal recessive inheritance
23404	EXOSC2	HP:0001321	Cerebellar hypoplasia
23404	EXOSC2	HP:0002120	Cerebral cortical atrophy
23404	EXOSC2	HP:0002135	Basal ganglia calcification
23404	EXOSC2	HP:0002188	Delayed CNS myelination
23404	EXOSC2	HP:0003593	Infantile onset
23404	EXOSC2	HP:0002232	Patchy alopecia
23404	EXOSC2	HP:0009836	Broad distal phalanx of finger
23404	EXOSC2	HP:0010761	Broad columella
23404	EXOSC2	HP:0000639	Nystagmus
23404	EXOSC2	HP:0000662	Nyctalopia
23404	EXOSC2	HP:0011304	Broad thumb
23404	EXOSC2	HP:0004322	Short stature
23404	EXOSC2	HP:0012745	Short palpebral fissure
23404	EXOSC2	HP:0000750	Delayed speech and language development
23404	EXOSC2	HP:0012810	Wide nasal base
23404	EXOSC2	HP:0000822	Hypertension
23404	EXOSC2	HP:0000821	Hypothyroidism
23404	EXOSC2	HP:0008070	Sparse hair
23404	EXOSC2	HP:0000219	Thin upper lip vermilion
23404	EXOSC2	HP:0000365	Hearing impairment
23404	EXOSC2	HP:0000358	Posteriorly rotated ears
23404	EXOSC2	HP:0011003	High myopia
23404	EXOSC2	HP:0000369	Low-set ears
23404	EXOSC2	HP:0000343	Long philtrum
23404	EXOSC2	HP:0005328	Progeroid facial appearance
23404	EXOSC2	HP:0000486	Strabismus
23404	EXOSC2	HP:0000490	Deeply set eye
23404	EXOSC2	HP:0000463	Anteverted nares
23404	EXOSC2	HP:0011120	Concave nasal ridge
23404	EXOSC2	HP:0000455	Broad nasal tip
23404	EXOSC2	HP:0000510	Rod-cone dystrophy
23404	EXOSC2	HP:0000501	Glaucoma
23404	EXOSC2	HP:0000582	Upslanted palpebral fissure
23404	EXOSC2	HP:0011220	Prominent forehead
23404	EXOSC2	HP:0012510	Extra-axial cerebrospinal fluid accumulation
23404	EXOSC2	HP:0000545	Myopia
23405	DICER1	HP:0001263	Global developmental delay
23405	DICER1	HP:0025388	Thyroid nodule
23405	DICER1	HP:0000023	Inguinal hernia
23405	DICER1	HP:0002671	Basal cell carcinoma
23405	DICER1	HP:0002667	Nephroblastoma
23405	DICER1	HP:0000006	Autosomal dominant inheritance
23405	DICER1	HP:0032445	Pulmonary cyst
23405	DICER1	HP:0001442	Somatic mosaicism
23405	DICER1	HP:0000105	Enlarged kidney
23405	DICER1	HP:0030983	Ovarian thecoma
23405	DICER1	HP:0005987	Multinodular goiter
23405	DICER1	HP:0002007	Frontal bossing
23405	DICER1	HP:0100528	Pleuropulmonary blastoma
23405	DICER1	HP:0003577	Congenital onset
23405	DICER1	HP:0200063	Colorectal polyposis
23405	DICER1	HP:0100615	Ovarian neoplasm
23405	DICER1	HP:0100619	Sertoli cell neoplasm
23405	DICER1	HP:0100617	Testicular seminoma
23405	DICER1	HP:0007129	Cerebellar medulloblastoma
23405	DICER1	HP:0005584	Renal cell carcinoma
23405	DICER1	HP:0000767	Pectus excavatum
23405	DICER1	HP:0000717	Autism
23405	DICER1	HP:0004467	Preauricular pit
23405	DICER1	HP:0000853	Goiter
23405	DICER1	HP:0000866	Euthyroid multinodular goiter
23405	DICER1	HP:0000836	Hyperthyroidism
23405	DICER1	HP:0000960	Sacral dimple
23405	DICER1	HP:0000260	Wide anterior fontanel
23405	DICER1	HP:0000256	Macrocephaly
23405	DICER1	HP:0030071	Medulloepithelioma
23405	DICER1	HP:0002808	Kyphosis
23405	DICER1	HP:0001548	Overgrowth
23405	DICER1	HP:0002895	Papillary thyroid carcinoma
23405	DICER1	HP:0002890	Thyroid carcinoma
23405	DICER1	HP:0002885	Medulloblastoma
23405	DICER1	HP:0002859	Rhabdomyosarcoma
23405	DICER1	HP:0001537	Umbilical hernia
23405	DICER1	HP:0001538	Protuberant abdomen
23405	DICER1	HP:0001520	Large for gestational age
23405	DICER1	HP:0000347	Micrognathia
23405	DICER1	HP:0000316	Hypertelorism
23405	DICER1	HP:0005280	Depressed nasal bridge
23405	DICER1	HP:0000463	Anteverted nares
23405	DICER1	HP:0006743	Embryonal rhabdomyosarcoma
23405	DICER1	HP:0030434	Pilomatrixoma
23405	DICER1	HP:0006779	Alveolar rhabdomyosarcoma
23414	ZFPM2	HP:0001156	Brachydactyly
23414	ZFPM2	HP:0009891	Underdeveloped supraorbital ridges
23414	ZFPM2	HP:0002566	Intestinal malrotation
23414	ZFPM2	HP:0008726	Hypoplasia of the vagina
23414	ZFPM2	HP:0008730	Female external genitalia in individual with 46,XY karyotype
23414	ZFPM2	HP:0008734	Decreased testicular size
23414	ZFPM2	HP:0008736	Hypoplasia of penis
23414	ZFPM2	HP:0008665	Clitoral hypertrophy
23414	ZFPM2	HP:0000062	Ambiguous genitalia
23414	ZFPM2	HP:0000063	Fused labia minora
23414	ZFPM2	HP:0000058	Abnormal labia morphology
23414	ZFPM2	HP:0000045	Abnormality of the scrotum
23414	ZFPM2	HP:0000054	Micropenis
23414	ZFPM2	HP:0000047	Hypospadias
23414	ZFPM2	HP:0000030	Testicular gonadoblastoma
23414	ZFPM2	HP:0000028	Cryptorchidism
23414	ZFPM2	HP:0000027	Azoospermia
23414	ZFPM2	HP:0002667	Nephroblastoma
23414	ZFPM2	HP:0000006	Autosomal dominant inheritance
23414	ZFPM2	HP:0000142	Abnormal vagina morphology
23414	ZFPM2	HP:0000150	Gonadoblastoma
23414	ZFPM2	HP:0000149	Ovarian gonadoblastoma
23414	ZFPM2	HP:0000133	Gonadal dysgenesis
23414	ZFPM2	HP:0000100	Nephrotic syndrome
23414	ZFPM2	HP:0002750	Delayed skeletal maturation
23414	ZFPM2	HP:0002089	Pulmonary hypoplasia
23414	ZFPM2	HP:0002098	Respiratory distress
23414	ZFPM2	HP:0008193	Primary gonadal insufficiency
23414	ZFPM2	HP:0008187	Absence of secondary sex characteristics
23414	ZFPM2	HP:0010464	Streak ovary
23414	ZFPM2	HP:0008232	Elevated circulating follicle stimulating hormone level
23414	ZFPM2	HP:0008214	Decreased serum estradiol
23414	ZFPM2	HP:0003577	Congenital onset
23414	ZFPM2	HP:0002215	Sparse axillary hair
23414	ZFPM2	HP:0002225	Sparse pubic hair
23414	ZFPM2	HP:0100779	Urogenital sinus anomaly
23414	ZFPM2	HP:0011969	Elevated circulating luteinizing hormone level
23414	ZFPM2	HP:0004209	Clinodactyly of the 5th finger
23414	ZFPM2	HP:0030680	Abnormality of cardiovascular system morphology
23414	ZFPM2	HP:0000771	Gynecomastia
23414	ZFPM2	HP:0000729	Autistic behavior
23414	ZFPM2	HP:0000776	Congenital diaphragmatic hernia
23414	ZFPM2	HP:0000786	Primary amenorrhea
23414	ZFPM2	HP:0004467	Preauricular pit
23414	ZFPM2	HP:0012870	Vanishing testis
23414	ZFPM2	HP:0000884	Prominent sternum
23414	ZFPM2	HP:0000868	Decreased fertility in females
23414	ZFPM2	HP:0000837	Increased circulating gonadotropin level
23414	ZFPM2	HP:0000846	Adrenal insufficiency
23414	ZFPM2	HP:0000815	Hypergonadotropic hypogonadism
23414	ZFPM2	HP:0000812	Abnormal internal genitalia
23414	ZFPM2	HP:0000823	Delayed puberty
23414	ZFPM2	HP:0003251	Male infertility
23414	ZFPM2	HP:0010315	Aplasia/Hypoplasia of the diaphragm
23414	ZFPM2	HP:0000939	Osteoporosis
23414	ZFPM2	HP:0040171	Decreased serum testosterone concentration
23414	ZFPM2	HP:0012244	Abnormal sex determination
23414	ZFPM2	HP:0012245	Sex reversal
23414	ZFPM2	HP:0000268	Dolichocephaly
23414	ZFPM2	HP:0005105	Abnormal nasal morphology
23414	ZFPM2	HP:0000233	Thin vermilion border
23414	ZFPM2	HP:0001511	Intrauterine growth retardation
23414	ZFPM2	HP:0000337	Broad forehead
23414	ZFPM2	HP:0001636	Tetralogy of Fallot
23414	ZFPM2	HP:0012418	Hypoxemia
23414	ZFPM2	HP:0000520	Proptosis
23417	MLYCD	HP:0001290	Generalized hypotonia
23417	MLYCD	HP:0001250	Seizure
23417	MLYCD	HP:0001252	Hypotonia
23417	MLYCD	HP:0001249	Intellectual disability
23417	MLYCD	HP:0001263	Global developmental delay
23417	MLYCD	HP:0000007	Autosomal recessive inheritance
23417	MLYCD	HP:0001302	Pachygyria
23417	MLYCD	HP:0002643	Neonatal respiratory distress
23417	MLYCD	HP:0012120	Methylmalonic aciduria
23417	MLYCD	HP:0002019	Constipation
23417	MLYCD	HP:0002027	Abdominal pain
23417	MLYCD	HP:0002014	Diarrhea
23417	MLYCD	HP:0002013	Vomiting
23417	MLYCD	HP:0002188	Delayed CNS myelination
23417	MLYCD	HP:0033213	Elevated urine suberic acid level
23417	MLYCD	HP:0001943	Hypoglycemia
23417	MLYCD	HP:0001946	Ketosis
23417	MLYCD	HP:0001942	Metabolic acidosis
23417	MLYCD	HP:0004322	Short stature
23417	MLYCD	HP:0003128	Lactic acidosis
23417	MLYCD	HP:0011664	Left ventricular noncompaction cardiomyopathy
23417	MLYCD	HP:0001644	Dilated cardiomyopathy
23417	MLYCD	HP:0012450	Chronic constipation
23418	CRB1	HP:0001141	Severely reduced visual acuity
23418	CRB1	HP:0001116	Macular coloboma
23418	CRB1	HP:0001250	Seizure
23418	CRB1	HP:0001252	Hypotonia
23418	CRB1	HP:0001249	Intellectual disability
23418	CRB1	HP:0001263	Global developmental delay
23418	CRB1	HP:0008736	Hypoplasia of penis
23418	CRB1	HP:0001347	Hyperreflexia
23418	CRB1	HP:0000035	Abnormal testis morphology
23418	CRB1	HP:0000007	Autosomal recessive inheritance
23418	CRB1	HP:0000006	Autosomal dominant inheritance
23418	CRB1	HP:0000135	Hypogonadism
23418	CRB1	HP:0001483	Eye poking
23418	CRB1	HP:0007675	Progressive night blindness
23418	CRB1	HP:0007663	Reduced visual acuity
23418	CRB1	HP:0001417	X-linked inheritance
23418	CRB1	HP:0005978	Type II diabetes mellitus
23418	CRB1	HP:0002084	Encephalocele
23418	CRB1	HP:0003593	Infantile onset
23418	CRB1	HP:0002269	Abnormality of neuronal migration
23418	CRB1	HP:0008499	High hypermetropia
23418	CRB1	HP:0030505	Nummular pigmentation of the fundus
23418	CRB1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
23418	CRB1	HP:0000639	Nystagmus
23418	CRB1	HP:0000648	Optic atrophy
23418	CRB1	HP:0000618	Blindness
23418	CRB1	HP:0000613	Photophobia
23418	CRB1	HP:0000610	Abnormal choroid morphology
23418	CRB1	HP:0000602	Ophthalmoplegia
23418	CRB1	HP:0030491	Choriocapillaris atrophy
23418	CRB1	HP:0000662	Nyctalopia
23418	CRB1	HP:0004374	Hemiplegia/hemiparesis
23418	CRB1	HP:0012795	Abnormal optic disc morphology
23418	CRB1	HP:0011463	Childhood onset
23418	CRB1	HP:0000842	Hyperinsulinemia
23418	CRB1	HP:0000987	Atypical scarring of skin
23418	CRB1	HP:0008046	Abnormal retinal vascular morphology
23418	CRB1	HP:0007703	Abnormality of retinal pigmentation
23418	CRB1	HP:0007773	Vitreoretinopathy
23418	CRB1	HP:0007737	Bone spicule pigmentation of the retina
23418	CRB1	HP:0001513	Obesity
23418	CRB1	HP:0007843	Attenuation of retinal blood vessels
23418	CRB1	HP:0000365	Hearing impairment
23418	CRB1	HP:0007903	Paravenous chorioretinal atrophy
23418	CRB1	HP:0000407	Sensorineural hearing impairment
23418	CRB1	HP:0000405	Conductive hearing impairment
23418	CRB1	HP:0000486	Strabismus
23418	CRB1	HP:0000490	Deeply set eye
23418	CRB1	HP:0000463	Anteverted nares
23418	CRB1	HP:0000431	Wide nasal bridge
23418	CRB1	HP:0000518	Cataract
23418	CRB1	HP:0000510	Rod-cone dystrophy
23418	CRB1	HP:0000512	Abnormal electroretinogram
23418	CRB1	HP:0000505	Visual impairment
23418	CRB1	HP:0000501	Glaucoma
23418	CRB1	HP:0000580	Pigmentary retinopathy
23418	CRB1	HP:0000577	Exotropia
23418	CRB1	HP:0000563	Keratoconus
23418	CRB1	HP:0000568	Microphthalmia
23418	CRB1	HP:0000565	Esotropia
23418	CRB1	HP:0000540	Hypermetropia
23418	CRB1	HP:0000533	Chorioretinal atrophy
23418	CRB1	HP:0000550	Undetectable electroretinogram
23418	CRB1	HP:0000543	Optic disc pallor
23424	TDRD7	HP:0000007	Autosomal recessive inheritance
23424	TDRD7	HP:0000518	Cataract
23426	GRIP1	HP:0001126	Cryptophthalmos
23426	GRIP1	HP:0002475	Myelomeningocele
23426	GRIP1	HP:0010958	Bilateral renal agenesis
23426	GRIP1	HP:0008572	External ear malformation
23426	GRIP1	HP:0020206	Simple ear
23426	GRIP1	HP:0001249	Intellectual disability
23426	GRIP1	HP:0006101	Finger syndactyly
23426	GRIP1	HP:0008736	Hypoplasia of penis
23426	GRIP1	HP:0003826	Stillbirth
23426	GRIP1	HP:0000089	Renal hypoplasia
23426	GRIP1	HP:0000068	Urethral atresia
23426	GRIP1	HP:0000062	Ambiguous genitalia
23426	GRIP1	HP:0000046	Small scrotum
23426	GRIP1	HP:0000047	Hypospadias
23426	GRIP1	HP:0001362	Calvarial skull defect
23426	GRIP1	HP:0000028	Cryptorchidism
23426	GRIP1	HP:0000007	Autosomal recessive inheritance
23426	GRIP1	HP:0000003	Multicystic kidney dysplasia
23426	GRIP1	HP:0000142	Abnormal vagina morphology
23426	GRIP1	HP:0000148	Vaginal atresia
23426	GRIP1	HP:0002777	Tracheal stenosis
23426	GRIP1	HP:0002025	Anal stenosis
23426	GRIP1	HP:0002023	Anal atresia
23426	GRIP1	HP:0002089	Pulmonary hypoplasia
23426	GRIP1	HP:0002084	Encephalocele
23426	GRIP1	HP:0010458	Female pseudohermaphroditism
23426	GRIP1	HP:0002101	Abnormal lung lobation
23426	GRIP1	HP:0003422	Vertebral segmentation defect
23426	GRIP1	HP:0010720	Abnormal hair pattern
23426	GRIP1	HP:0100682	Tracheal atresia
23426	GRIP1	HP:0000618	Blindness
23426	GRIP1	HP:0000678	Dental crowding
23426	GRIP1	HP:0000689	Dental malocclusion
23426	GRIP1	HP:0030680	Abnormality of cardiovascular system morphology
23426	GRIP1	HP:0004397	Ectopic anus
23426	GRIP1	HP:0034198	Second trimester onset
23426	GRIP1	HP:0012725	Cutaneous syndactyly
23426	GRIP1	HP:0003191	Cleft ala nasi
23426	GRIP1	HP:0003183	Wide pubic symphysis
23426	GRIP1	HP:0034217	Sonographic non-visualized fetal bladder
23426	GRIP1	HP:0000813	Bicornuate uterus
23426	GRIP1	HP:0010297	Bifid tongue
23426	GRIP1	HP:0000238	Hydrocephalus
23426	GRIP1	HP:0000252	Microcephaly
23426	GRIP1	HP:0000218	High palate
23426	GRIP1	HP:0001562	Oligohydramnios
23426	GRIP1	HP:0001522	Death in infancy
23426	GRIP1	HP:0001541	Ascites
23426	GRIP1	HP:0001537	Umbilical hernia
23426	GRIP1	HP:0001539	Omphalocele
23426	GRIP1	HP:0000202	Orofacial cleft
23426	GRIP1	HP:0000204	Cleft upper lip
23426	GRIP1	HP:0001607	Subglottic stenosis
23426	GRIP1	HP:0001602	Laryngeal stenosis
23426	GRIP1	HP:0000370	Abnormality of the middle ear
23426	GRIP1	HP:0000369	Low-set ears
23426	GRIP1	HP:0000368	Low-set, posteriorly rotated ears
23426	GRIP1	HP:0000347	Micrognathia
23426	GRIP1	HP:0000316	Hypertelorism
23426	GRIP1	HP:0012300	Ureteral agenesis
23426	GRIP1	HP:0006610	Wide intermamillary distance
23426	GRIP1	HP:0007925	Lacrimal duct aplasia
23426	GRIP1	HP:0005343	Hypoplasia of the bladder
23426	GRIP1	HP:0007993	Malformed lacrimal duct
23426	GRIP1	HP:0000405	Conductive hearing impairment
23426	GRIP1	HP:0005280	Depressed nasal bridge
23426	GRIP1	HP:0001790	Nonimmune hydrops fetalis
23426	GRIP1	HP:0001770	Toe syndactyly
23426	GRIP1	HP:0000444	Convex nasal ridge
23426	GRIP1	HP:0000445	Wide nose
23426	GRIP1	HP:0000413	Atresia of the external auditory canal
23426	GRIP1	HP:0000431	Wide nasal bridge
23426	GRIP1	HP:0000430	Underdeveloped nasal alae
23426	GRIP1	HP:0004112	Midline nasal groove
23426	GRIP1	HP:0000528	Anophthalmia
23426	GRIP1	HP:0001831	Short toe
23426	GRIP1	HP:0000568	Microphthalmia
23431	AP4E1	HP:0002465	Poor speech
23431	AP4E1	HP:0002464	Spastic dysarthria
23431	AP4E1	HP:0100962	Shyness
23431	AP4E1	HP:0010864	Intellectual disability, severe
23431	AP4E1	HP:0025268	Stuttering
23431	AP4E1	HP:0001272	Cerebellar atrophy
23431	AP4E1	HP:0001250	Seizure
23431	AP4E1	HP:0001252	Hypotonia
23431	AP4E1	HP:0001263	Global developmental delay
23431	AP4E1	HP:0001258	Spastic paraplegia
23431	AP4E1	HP:0001257	Spasticity
23431	AP4E1	HP:0002540	Inability to walk
23431	AP4E1	HP:0002518	Abnormal periventricular white matter morphology
23431	AP4E1	HP:0002515	Waddling gait
23431	AP4E1	HP:0002510	Spastic tetraplegia
23431	AP4E1	HP:0008807	Acetabular dysplasia
23431	AP4E1	HP:0001371	Flexion contracture
23431	AP4E1	HP:0001347	Hyperreflexia
23431	AP4E1	HP:0001332	Dystonia
23431	AP4E1	HP:0000007	Autosomal recessive inheritance
23431	AP4E1	HP:0000006	Autosomal dominant inheritance
23431	AP4E1	HP:0001319	Neonatal hypotonia
23431	AP4E1	HP:0000154	Wide mouth
23431	AP4E1	HP:0002761	Generalized joint laxity
23431	AP4E1	HP:0002079	Hypoplasia of the corpus callosum
23431	AP4E1	HP:0003487	Babinski sign
23431	AP4E1	HP:0002120	Cerebral cortical atrophy
23431	AP4E1	HP:0002119	Ventriculomegaly
23431	AP4E1	HP:0003577	Congenital onset
23431	AP4E1	HP:0007020	Progressive spastic paraplegia
23431	AP4E1	HP:0002355	Difficulty walking
23431	AP4E1	HP:0010803	Everted upper lip vermilion
23431	AP4E1	HP:0003623	Neonatal onset
23431	AP4E1	HP:0002307	Drooling
23431	AP4E1	HP:0000639	Nystagmus
23431	AP4E1	HP:0000646	Amblyopia
23431	AP4E1	HP:0004322	Short stature
23431	AP4E1	HP:0031936	Delayed ability to walk
23431	AP4E1	HP:0000733	Abnormal repetitive mannerisms
23431	AP4E1	HP:0011463	Childhood onset
23431	AP4E1	HP:0003199	Decreased muscle mass
23431	AP4E1	HP:0003189	Long nose
23431	AP4E1	HP:0000280	Coarse facial features
23431	AP4E1	HP:0000297	Facial hypotonia
23431	AP4E1	HP:0000275	Narrow face
23431	AP4E1	HP:0002816	Genu recurvatum
23431	AP4E1	HP:0000252	Microcephaly
23431	AP4E1	HP:0000218	High palate
23431	AP4E1	HP:0025502	Overweight
23431	AP4E1	HP:0000395	Prominent antihelix
23431	AP4E1	HP:0000341	Narrow forehead
23431	AP4E1	HP:0000322	Short philtrum
23431	AP4E1	HP:0000307	Pointed chin
23431	AP4E1	HP:0000486	Strabismus
23431	AP4E1	HP:0000494	Downslanted palpebral fissures
23431	AP4E1	HP:0001763	Pes planus
23431	AP4E1	HP:0000414	Bulbous nose
23431	AP4E1	HP:0001762	Talipes equinovarus
23431	AP4E1	HP:0000431	Wide nasal bridge
23432	GPR161	HP:0001250	Seizure
23432	GPR161	HP:0001249	Intellectual disability
23432	GPR161	HP:0001263	Global developmental delay
23432	GPR161	HP:0100842	Septo-optic dysplasia
23432	GPR161	HP:0008736	Hypoplasia of penis
23432	GPR161	HP:0003829	Typified by incomplete penetrance
23432	GPR161	HP:0000028	Cryptorchidism
23432	GPR161	HP:0000007	Autosomal recessive inheritance
23432	GPR161	HP:0000006	Autosomal dominant inheritance
23432	GPR161	HP:0001428	Somatic mutation
23432	GPR161	HP:0011755	Ectopic posterior pituitary
23432	GPR161	HP:0001943	Hypoglycemia
23432	GPR161	HP:0004322	Short stature
23432	GPR161	HP:0000786	Primary amenorrhea
23432	GPR161	HP:0000873	Diabetes insipidus
23432	GPR161	HP:0000864	Abnormality of the hypothalamus-pituitary axis
23432	GPR161	HP:0000835	Adrenal hypoplasia
23432	GPR161	HP:0000821	Hypothyroidism
23432	GPR161	HP:0000823	Delayed puberty
23432	GPR161	HP:0002885	Medulloblastoma
23432	GPR161	HP:0001522	Death in infancy
23432	GPR161	HP:0001508	Failure to thrive
23435	TARDBP	HP:0002460	Distal muscle weakness
23435	TARDBP	HP:0002442	Dyscalculia
23435	TARDBP	HP:0008619	Bilateral sensorineural hearing impairment
23435	TARDBP	HP:0003701	Proximal muscle weakness
23435	TARDBP	HP:0003700	Generalized amyotrophy
23435	TARDBP	HP:0001283	Bulbar palsy
23435	TARDBP	HP:0001265	Hyporeflexia
23435	TARDBP	HP:0001260	Dysarthria
23435	TARDBP	HP:0001257	Spasticity
23435	TARDBP	HP:0007373	Motor neuron atrophy
23435	TARDBP	HP:0007354	Amyotrophic lateral sclerosis
23435	TARDBP	HP:0001324	Muscle weakness
23435	TARDBP	HP:0000006	Autosomal dominant inheritance
23435	TARDBP	HP:0001300	Parkinsonism
23435	TARDBP	HP:0025425	Laryngospasm
23435	TARDBP	HP:0002795	Abnormal respiratory system physiology
23435	TARDBP	HP:0002747	Respiratory insufficiency due to muscle weakness
23435	TARDBP	HP:0002017	Nausea and vomiting
23435	TARDBP	HP:0002015	Dysphagia
23435	TARDBP	HP:0003324	Generalized muscle weakness
23435	TARDBP	HP:0002094	Dyspnea
23435	TARDBP	HP:0003394	Muscle spasm
23435	TARDBP	HP:0002073	Progressive cerebellar ataxia
23435	TARDBP	HP:0002071	Abnormality of extrapyramidal motor function
23435	TARDBP	HP:0002145	Frontotemporal dementia
23435	TARDBP	HP:0003470	Paralysis
23435	TARDBP	HP:0003487	Babinski sign
23435	TARDBP	HP:0002127	Abnormal upper motor neuron morphology
23435	TARDBP	HP:0002186	Apraxia
23435	TARDBP	HP:0002180	Neurodegeneration
23435	TARDBP	HP:0002171	Gliosis
23435	TARDBP	HP:0010549	Weakness due to upper motor neuron dysfunction
23435	TARDBP	HP:0002273	Tetraparesis
23435	TARDBP	HP:0003584	Late onset
23435	TARDBP	HP:0002283	Global brain atrophy
23435	TARDBP	HP:0008322	Abnormal mitochondrial morphology
23435	TARDBP	HP:0002385	Paraparesis
23435	TARDBP	HP:0002380	Fasciculations
23435	TARDBP	HP:0002366	Abnormal lower motor neuron morphology
23435	TARDBP	HP:0003678	Rapidly progressive
23435	TARDBP	HP:0002314	Degeneration of the lateral corticospinal tracts
23435	TARDBP	HP:0002300	Mutism
23435	TARDBP	HP:0007190	Neuronal loss in the cerebral cortex
23435	TARDBP	HP:0000605	Supranuclear gaze palsy
23435	TARDBP	HP:0000738	Hallucinations
23435	TARDBP	HP:0000739	Anxiety
23435	TARDBP	HP:0000734	Disinhibition
23435	TARDBP	HP:0000741	Apathy
23435	TARDBP	HP:0000716	Depression
23435	TARDBP	HP:0000712	Emotional lability
23435	TARDBP	HP:0000713	Agitation
23435	TARDBP	HP:0000708	Atypical behavior
23435	TARDBP	HP:0003202	Skeletal muscle atrophy
23435	TARDBP	HP:0000217	Xerostomia
23435	TARDBP	HP:0002878	Respiratory failure
23435	TARDBP	HP:0012378	Fatigue
23435	TARDBP	HP:0030196	Fatigable weakness of respiratory muscles
23435	TARDBP	HP:0030195	Fatigable weakness of swallowing muscles
23435	TARDBP	HP:0030192	Fatigable weakness of bulbar muscles
23435	TARDBP	HP:0030223	Manifestations of perseverative thought or action
23435	TARDBP	HP:0000508	Ptosis
23435	TARDBP	HP:0012531	Pain
23438	HARS2	HP:0000007	Autosomal recessive inheritance
23438	HARS2	HP:0000141	Amenorrhea
23438	HARS2	HP:0010464	Streak ovary
23438	HARS2	HP:0000407	Sensorineural hearing impairment
23443	SLC35A3	HP:0010864	Intellectual disability, severe
23443	SLC35A3	HP:0001290	Generalized hypotonia
23443	SLC35A3	HP:0001256	Intellectual disability, mild
23443	SLC35A3	HP:0001249	Intellectual disability
23443	SLC35A3	HP:0001263	Global developmental delay
23443	SLC35A3	HP:0008807	Acetabular dysplasia
23443	SLC35A3	HP:0001385	Hip dysplasia
23443	SLC35A3	HP:0000007	Autosomal recessive inheritance
23443	SLC35A3	HP:0002650	Scoliosis
23443	SLC35A3	HP:0002121	Generalized non-motor (absence) seizure
23443	SLC35A3	HP:0100490	Camptodactyly of finger
23443	SLC35A3	HP:0003577	Congenital onset
23443	SLC35A3	HP:0002342	Intellectual disability, moderate
23443	SLC35A3	HP:0004976	Knee dislocation
23443	SLC35A3	HP:0000729	Autistic behavior
23443	SLC35A3	HP:0011461	Fetal onset
23443	SLC35A3	HP:0002827	Hip dislocation
23443	SLC35A3	HP:0002804	Arthrogryposis multiplex congenita
23443	SLC35A3	HP:0000252	Microcephaly
23443	SLC35A3	HP:0000308	Microretrognathia
23443	SLC35A3	HP:0011153	Focal motor seizure
23443	SLC35A3	HP:0001765	Hammertoe
23446	SLC44A1	HP:0001272	Cerebellar atrophy
23446	SLC44A1	HP:0001268	Mental deterioration
23446	SLC44A1	HP:0001260	Dysarthria
23446	SLC44A1	HP:0000020	Urinary incontinence
23446	SLC44A1	HP:0001332	Dystonia
23446	SLC44A1	HP:0000007	Autosomal recessive inheritance
23446	SLC44A1	HP:0002607	Bowel incontinence
23446	SLC44A1	HP:0002015	Dysphagia
23446	SLC44A1	HP:0002073	Progressive cerebellar ataxia
23446	SLC44A1	HP:0003487	Babinski sign
23446	SLC44A1	HP:0002169	Clonus
23446	SLC44A1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
23446	SLC44A1	HP:0002353	EEG abnormality
23446	SLC44A1	HP:0000648	Optic atrophy
23446	SLC44A1	HP:0000750	Delayed speech and language development
23446	SLC44A1	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging
23446	SLC44A1	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging
23446	SLC44A1	HP:0006579	Prolonged neonatal jaundice
23446	SLC44A1	HP:0000486	Strabismus
23446	SLC44A1	HP:0000514	Slow saccadic eye movements
23451	SF3B1	HP:0010920	Zonular cataract
23451	SF3B1	HP:0001231	Abnormal fingernail morphology
23451	SF3B1	HP:0031035	Chronic infection
23451	SF3B1	HP:0010972	Anemia of inadequate production
23451	SF3B1	HP:0012055	Ciliary body melanoma
23451	SF3B1	HP:0012054	Choroidal melanoma
23451	SF3B1	HP:0012136	Dysplastic granulopoesis
23451	SF3B1	HP:0012137	Abnormal number of granulocyte precursors
23451	SF3B1	HP:0012143	Abnormal megakaryocyte morphology
23451	SF3B1	HP:0012132	Erythroid hyperplasia
23451	SF3B1	HP:0001428	Somatic mutation
23451	SF3B1	HP:0100533	Inflammatory abnormality of the eye
23451	SF3B1	HP:0002240	Hepatomegaly
23451	SF3B1	HP:0200143	Megaloblastic erythroid hyperplasia
23451	SF3B1	HP:0004828	Refractory anemia with ringed sideroblasts
23451	SF3B1	HP:0004808	Acute myeloid leukemia
23451	SF3B1	HP:0200026	Ocular pain
23451	SF3B1	HP:0001098	Abnormal fundus morphology
23451	SF3B1	HP:0008494	Inferior lens subluxation
23451	SF3B1	HP:0005528	Bone marrow hypocellularity
23451	SF3B1	HP:0005513	Increased megakaryocyte count
23451	SF3B1	HP:0001974	Leukocytosis
23451	SF3B1	HP:0001931	Hypochromic anemia
23451	SF3B1	HP:0001913	Granulocytopenia
23451	SF3B1	HP:0011499	Mydriasis
23451	SF3B1	HP:0011447	Hyposegmentation of neutrophil nuclei
23451	SF3B1	HP:0030786	Photopsia
23451	SF3B1	HP:0011524	Iris melanoma
23451	SF3B1	HP:0030800	Abnormal visual accommodation
23451	SF3B1	HP:0000980	Pallor
23451	SF3B1	HP:0002863	Myelodysplasia
23451	SF3B1	HP:0001635	Congestive heart failure
23451	SF3B1	HP:0007902	Vitreous hemorrhage
23451	SF3B1	HP:0007906	Ocular hypertension
23451	SF3B1	HP:0001744	Splenomegaly
23451	SF3B1	HP:0012508	Metamorphopsia
23451	SF3B1	HP:0001892	Abnormal bleeding
23451	SF3B1	HP:0001894	Thrombocytosis
23451	SF3B1	HP:0000572	Visual loss
23451	SF3B1	HP:0001895	Normochromic anemia
23451	SF3B1	HP:0001897	Normocytic anemia
23451	SF3B1	HP:0000541	Retinal detachment
23451	SF3B1	HP:0000539	Abnormality of refraction
23451	SF3B1	HP:0001873	Thrombocytopenia
23451	SF3B1	HP:0001876	Pancytopenia
23451	SF3B1	HP:0001875	Neutropenia
23461	ABCA5	HP:0009928	Thick nasal alae
23461	ABCA5	HP:0001250	Seizure
23461	ABCA5	HP:0001251	Ataxia
23461	ABCA5	HP:0000007	Autosomal recessive inheritance
23461	ABCA5	HP:0000164	Abnormality of the dentition
23461	ABCA5	HP:0000169	Gingival fibromatosis
23461	ABCA5	HP:0100543	Cognitive impairment
23461	ABCA5	HP:0002230	Generalized hirsutism
23461	ABCA5	HP:0001007	Hirsutism
23461	ABCA5	HP:0002353	EEG abnormality
23461	ABCA5	HP:0000684	Delayed eruption of teeth
23461	ABCA5	HP:0000664	Synophrys
23461	ABCA5	HP:0012810	Wide nasal base
23461	ABCA5	HP:0004540	Congenital, generalized hypertrichosis
23461	ABCA5	HP:0000998	Hypertrichosis
23461	ABCA5	HP:0000286	Epicanthus
23461	ABCA5	HP:0000280	Coarse facial features
23461	ABCA5	HP:0000212	Gingival overgrowth
23461	ABCA5	HP:0000494	Downslanted palpebral fissures
23461	ABCA5	HP:0000414	Bulbous nose
23461	ABCA5	HP:0000574	Thick eyebrow
23474	ETHE1	HP:0007256	Abnormal pyramidal sign
23474	ETHE1	HP:0001298	Encephalopathy
23474	ETHE1	HP:0001290	Generalized hypotonia
23474	ETHE1	HP:0001250	Seizure
23474	ETHE1	HP:0001252	Hypotonia
23474	ETHE1	HP:0001251	Ataxia
23474	ETHE1	HP:0001249	Intellectual disability
23474	ETHE1	HP:0001263	Global developmental delay
23474	ETHE1	HP:0000007	Autosomal recessive inheritance
23474	ETHE1	HP:0002028	Chronic diarrhea
23474	ETHE1	HP:0002014	Diarrhea
23474	ETHE1	HP:0002071	Abnormality of extrapyramidal motor function
23474	ETHE1	HP:0003487	Babinski sign
23474	ETHE1	HP:0003593	Infantile onset
23474	ETHE1	HP:0011968	Feeding difficulties
23474	ETHE1	HP:0001063	Acrocyanosis
23474	ETHE1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
23474	ETHE1	HP:0002376	Developmental regression
23474	ETHE1	HP:0033446	Elevated circulating butyrylcarnitine concentration
23474	ETHE1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
23474	ETHE1	HP:0012747	Abnormal brainstem MRI signal intensity
23474	ETHE1	HP:0012751	Abnormal basal ganglia MRI signal intensity
23474	ETHE1	HP:0012758	Neurodevelopmental delay
23474	ETHE1	HP:0003128	Lactic acidosis
23474	ETHE1	HP:0012841	Retinal vascular tortuosity
23474	ETHE1	HP:0003219	Ethylmalonic aciduria
23474	ETHE1	HP:0000967	Petechiae
23474	ETHE1	HP:0008046	Abnormal retinal vascular morphology
23474	ETHE1	HP:0001522	Death in infancy
23474	ETHE1	HP:0001508	Failure to thrive
23476	BRD4	HP:0010880	Increased nuchal translucency
23476	BRD4	HP:0010864	Intellectual disability, severe
23476	BRD4	HP:0001276	Hypertonia
23476	BRD4	HP:0001250	Seizure
23476	BRD4	HP:0002580	Volvulus
23476	BRD4	HP:0001252	Hypotonia
23476	BRD4	HP:0001249	Intellectual disability
23476	BRD4	HP:0002557	Hypoplastic nipples
23476	BRD4	HP:0002566	Intestinal malrotation
23476	BRD4	HP:0008736	Hypoplasia of penis
23476	BRD4	HP:0007360	Aplasia/Hypoplasia of the cerebellum
23476	BRD4	HP:0002553	Highly arched eyebrow
23476	BRD4	HP:0000083	Renal insufficiency
23476	BRD4	HP:0000059	Hypoplastic labia majora
23476	BRD4	HP:0000076	Vesicoureteral reflux
23476	BRD4	HP:0001385	Hip dysplasia
23476	BRD4	HP:0001387	Joint stiffness
23476	BRD4	HP:0000047	Hypospadias
23476	BRD4	HP:0000028	Cryptorchidism
23476	BRD4	HP:0008872	Feeding difficulties in infancy
23476	BRD4	HP:0008850	Severe postnatal growth retardation
23476	BRD4	HP:0002664	Neoplasm
23476	BRD4	HP:0000003	Multicystic kidney dysplasia
23476	BRD4	HP:0012182	Oropharyngeal squamous cell carcinoma
23476	BRD4	HP:0012165	Oligodactyly
23476	BRD4	HP:0000175	Cleft palate
23476	BRD4	HP:0012142	Pancreatic squamous cell carcinoma
23476	BRD4	HP:0007665	Curly eyelashes
23476	BRD4	HP:0007598	Bilateral single transverse palmar creases
23476	BRD4	HP:0000130	Abnormality of the uterus
23476	BRD4	HP:0002750	Delayed skeletal maturation
23476	BRD4	HP:0002714	Downturned corners of mouth
23476	BRD4	HP:0002021	Pyloric stenosis
23476	BRD4	HP:0002020	Gastroesophageal reflux
23476	BRD4	HP:0002120	Cerebral cortical atrophy
23476	BRD4	HP:0002119	Ventriculomegaly
23476	BRD4	HP:0009623	Proximal placement of thumb
23476	BRD4	HP:0002167	Abnormality of speech or vocalization
23476	BRD4	HP:0002162	Low posterior hairline
23476	BRD4	HP:0002230	Generalized hirsutism
23476	BRD4	HP:0100757	Pancreatoblastoma
23476	BRD4	HP:0007018	Attention deficit hyperactivity disorder
23476	BRD4	HP:0002360	Sleep disturbance
23476	BRD4	HP:0009830	Peripheral neuropathy
23476	BRD4	HP:0200055	Small hand
23476	BRD4	HP:0004209	Clinodactyly of the 5th finger
23476	BRD4	HP:0000639	Nystagmus
23476	BRD4	HP:0001956	Truncal obesity
23476	BRD4	HP:0001909	Leukemia
23476	BRD4	HP:0010034	Short 1st metacarpal
23476	BRD4	HP:0000684	Delayed eruption of teeth
23476	BRD4	HP:0000687	Widely spaced teeth
23476	BRD4	HP:0000667	Phthisis bulbi
23476	BRD4	HP:0000664	Synophrys
23476	BRD4	HP:0004322	Short stature
23476	BRD4	HP:0030680	Abnormality of cardiovascular system morphology
23476	BRD4	HP:0003042	Elbow dislocation
23476	BRD4	HP:0003006	Neuroblastoma
23476	BRD4	HP:0000767	Pectus excavatum
23476	BRD4	HP:0000739	Anxiety
23476	BRD4	HP:0000717	Autism
23476	BRD4	HP:0000722	Compulsive behaviors
23476	BRD4	HP:0000776	Congenital diaphragmatic hernia
23476	BRD4	HP:0000786	Primary amenorrhea
23476	BRD4	HP:0003196	Short nose
23476	BRD4	HP:0000823	Delayed puberty
23476	BRD4	HP:0040071	Abnormal morphology of ulna
23476	BRD4	HP:0045026	Abnormal mediastinum morphology
23476	BRD4	HP:0010300	Abnormally low-pitched voice
23476	BRD4	HP:0000965	Cutis marmorata
23476	BRD4	HP:0000294	Low anterior hairline
23476	BRD4	HP:0012254	Ewing sarcoma
23476	BRD4	HP:0002827	Hip dislocation
23476	BRD4	HP:0000252	Microcephaly
23476	BRD4	HP:0000248	Brachycephaly
23476	BRD4	HP:0000218	High palate
23476	BRD4	HP:0000233	Thin vermilion border
23476	BRD4	HP:0001557	Prenatal movement abnormality
23476	BRD4	HP:0002860	Squamous cell carcinoma
23476	BRD4	HP:0001508	Failure to thrive
23476	BRD4	HP:0001511	Intrauterine growth retardation
23476	BRD4	HP:0000368	Low-set, posteriorly rotated ears
23476	BRD4	HP:0000343	Long philtrum
23476	BRD4	HP:0000347	Micrognathia
23476	BRD4	HP:0002983	Micromelia
23476	BRD4	HP:0002974	Radioulnar synostosis
23476	BRD4	HP:0001629	Ventricular septal defect
23476	BRD4	HP:0001622	Premature birth
23476	BRD4	HP:0001631	Atrial septal defect
23476	BRD4	HP:0000498	Blepharitis
23476	BRD4	HP:0000407	Sensorineural hearing impairment
23476	BRD4	HP:0000405	Conductive hearing impairment
23476	BRD4	HP:0000400	Macrotia
23476	BRD4	HP:0005280	Depressed nasal bridge
23476	BRD4	HP:0000486	Strabismus
23476	BRD4	HP:0000482	Microcornea
23476	BRD4	HP:0000463	Anteverted nares
23476	BRD4	HP:0000470	Short neck
23476	BRD4	HP:0001770	Toe syndactyly
23476	BRD4	HP:0001773	Short foot
23476	BRD4	HP:0000453	Choanal atresia
23476	BRD4	HP:0000413	Atresia of the external auditory canal
23476	BRD4	HP:0000518	Cataract
23476	BRD4	HP:0000527	Long eyelashes
23476	BRD4	HP:0000508	Ptosis
23476	BRD4	HP:0000501	Glaucoma
23476	BRD4	HP:0000574	Thick eyebrow
23476	BRD4	HP:0001883	Talipes
23476	BRD4	HP:0000545	Myopia
23479	ISCU	HP:0002460	Distal muscle weakness
23479	ISCU	HP:0003737	Mitochondrial myopathy
23479	ISCU	HP:0001284	Areflexia
23479	ISCU	HP:0001252	Hypotonia
23479	ISCU	HP:0001324	Muscle weakness
23479	ISCU	HP:0000007	Autosomal recessive inheritance
23479	ISCU	HP:0001488	Bilateral ptosis
23479	ISCU	HP:0002094	Dyspnea
23479	ISCU	HP:0003394	Muscle spasm
23479	ISCU	HP:0003388	Easy fatigability
23479	ISCU	HP:0002151	Increased serum lactate
23479	ISCU	HP:0011924	Decreased activity of mitochondrial complex III
23479	ISCU	HP:0011923	Decreased activity of mitochondrial complex I
23479	ISCU	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
23479	ISCU	HP:0003546	Exercise intolerance
23479	ISCU	HP:0003557	Increased variability in muscle fiber diameter
23479	ISCU	HP:0008347	Decreased activity of mitochondrial complex IV
23479	ISCU	HP:0008314	Decreased activity of mitochondrial complex II
23479	ISCU	HP:0008306	Abnormal iron deposition in mitochondria
23479	ISCU	HP:0002359	Frequent falls
23479	ISCU	HP:0002355	Difficulty walking
23479	ISCU	HP:0003621	Juvenile onset
23479	ISCU	HP:0001962	Palpitations
23479	ISCU	HP:0001924	Sideroblastic anemia
23479	ISCU	HP:0001903	Anemia
23479	ISCU	HP:0011463	Childhood onset
23479	ISCU	HP:0003198	Myopathy
23479	ISCU	HP:0003128	Lactic acidosis
23479	ISCU	HP:0003236	Elevated circulating creatine kinase concentration
23479	ISCU	HP:0003202	Skeletal muscle atrophy
23479	ISCU	HP:0003201	Rhabdomyolysis
23479	ISCU	HP:0012240	Increased intramyocellular lipid droplets
23479	ISCU	HP:0002913	Myoglobinuria
23479	ISCU	HP:0000597	Ophthalmoparesis
23479	ISCU	HP:0001882	Leukopenia
23483	TGDS	HP:0001181	Adducted thumb
23483	TGDS	HP:0009933	Narrow naris
23483	TGDS	HP:0001250	Seizure
23483	TGDS	HP:0001263	Global developmental delay
23483	TGDS	HP:0002553	Highly arched eyebrow
23483	TGDS	HP:0001373	Joint dislocation
23483	TGDS	HP:0001388	Joint laxity
23483	TGDS	HP:0001387	Joint stiffness
23483	TGDS	HP:0000023	Inguinal hernia
23483	TGDS	HP:0000028	Cryptorchidism
23483	TGDS	HP:0008897	Postnatal growth retardation
23483	TGDS	HP:0000007	Autosomal recessive inheritance
23483	TGDS	HP:0002650	Scoliosis
23483	TGDS	HP:0002623	Overriding aorta
23483	TGDS	HP:0000193	Bifid uvula
23483	TGDS	HP:0000160	Narrow mouth
23483	TGDS	HP:0000162	Glossoptosis
23483	TGDS	HP:0000175	Cleft palate
23483	TGDS	HP:0009464	Ulnar deviation of the 2nd finger
23483	TGDS	HP:0009467	Radial deviation of the 2nd finger
23483	TGDS	HP:0005930	Abnormal epiphysis morphology
23483	TGDS	HP:0002119	Ventriculomegaly
23483	TGDS	HP:0100490	Camptodactyly of finger
23483	TGDS	HP:0010508	Metatarsus valgus
23483	TGDS	HP:0003577	Congenital onset
23483	TGDS	HP:0010763	Low insertion of columella
23483	TGDS	HP:0004209	Clinodactyly of the 5th finger
23483	TGDS	HP:0010049	Short metacarpal
23483	TGDS	HP:0004322	Short stature
23483	TGDS	HP:0030680	Abnormality of cardiovascular system morphology
23483	TGDS	HP:0005692	Joint hyperflexibility
23483	TGDS	HP:0000767	Pectus excavatum
23483	TGDS	HP:0000768	Pectus carinatum
23483	TGDS	HP:0005792	Short humerus
23483	TGDS	HP:0003097	Short femur
23483	TGDS	HP:0010285	Oral synechia
23483	TGDS	HP:0045074	Thin eyebrow
23483	TGDS	HP:0000954	Single transverse palmar crease
23483	TGDS	HP:0000293	Full cheeks
23483	TGDS	HP:0000272	Malar flattening
23483	TGDS	HP:0000218	High palate
23483	TGDS	HP:0002857	Genu valgum
23483	TGDS	HP:0001537	Umbilical hernia
23483	TGDS	HP:0000201	Pierre-Robin sequence
23483	TGDS	HP:0000204	Cleft upper lip
23483	TGDS	HP:0001508	Failure to thrive
23483	TGDS	HP:0001511	Intrauterine growth retardation
23483	TGDS	HP:0012385	Camptodactyly
23483	TGDS	HP:0000389	Chronic otitis media
23483	TGDS	HP:0000369	Low-set ears
23483	TGDS	HP:0000368	Low-set, posteriorly rotated ears
23483	TGDS	HP:0001680	Coarctation of aorta
23483	TGDS	HP:0000347	Micrognathia
23483	TGDS	HP:0001651	Dextrocardia
23483	TGDS	HP:0000316	Hypertelorism
23483	TGDS	HP:0001629	Ventricular septal defect
23483	TGDS	HP:0001631	Atrial septal defect
23483	TGDS	HP:0000476	Cystic hygroma
23483	TGDS	HP:0000460	Narrow nose
23483	TGDS	HP:0000470	Short neck
23483	TGDS	HP:0001762	Talipes equinovarus
23483	TGDS	HP:0000520	Proptosis
23483	TGDS	HP:0001831	Short toe
23483	TGDS	HP:0000582	Upslanted palpebral fissure
23483	TGDS	HP:0000579	Nasolacrimal duct obstruction
23483	TGDS	HP:0030368	Hyperphalangy of the 2nd finger
23493	HEY2	HP:0001166	Arachnodactyly
23493	HEY2	HP:0001297	Stroke
23493	HEY2	HP:0000098	Tall stature
23493	HEY2	HP:0002686	Prenatal maternal abnormality
23493	HEY2	HP:0000023	Inguinal hernia
23493	HEY2	HP:0002650	Scoliosis
23493	HEY2	HP:0002647	Aortic dissection
23493	HEY2	HP:0002616	Aortic root aneurysm
23493	HEY2	HP:0012163	Carotid artery dilatation
23493	HEY2	HP:0002705	High, narrow palate
23493	HEY2	HP:0002140	Ischemic stroke
23493	HEY2	HP:0002138	Subarachnoid hemorrhage
23493	HEY2	HP:0002107	Pneumothorax
23493	HEY2	HP:0002105	Hemoptysis
23493	HEY2	HP:0003549	Abnormality of connective tissue
23493	HEY2	HP:0200146	Mucoid extracellular matrix accumulation
23493	HEY2	HP:0100775	Dural ectasia
23493	HEY2	HP:0100749	Chest pain
23493	HEY2	HP:0002326	Transient ischemic attack
23493	HEY2	HP:0004959	Descending thoracic aorta aneurysm
23493	HEY2	HP:0004933	Ascending aortic dissection
23493	HEY2	HP:0004950	Peripheral arterial stenosis
23493	HEY2	HP:0004944	Dilatation of the cerebral artery
23493	HEY2	HP:0000766	Abnormal sternum morphology
23493	HEY2	HP:0012763	Paroxysmal dyspnea
23493	HEY2	HP:0000822	Hypertension
23493	HEY2	HP:0000978	Bruising susceptibility
23493	HEY2	HP:0000965	Cutis marmorata
23493	HEY2	HP:0000278	Retrognathia
23493	HEY2	HP:0005112	Abdominal aortic aneurysm
23493	HEY2	HP:0002875	Exertional dyspnea
23493	HEY2	HP:0005162	Abnormal left ventricular function
23493	HEY2	HP:0001677	Coronary artery atherosclerosis
23493	HEY2	HP:0001647	Bicuspid aortic valve
23493	HEY2	HP:0000316	Hypertelorism
23493	HEY2	HP:0001643	Patent ductus arteriosus
23493	HEY2	HP:0001659	Aortic regurgitation
23493	HEY2	HP:0001640	Cardiomegaly
23493	HEY2	HP:0012499	Descending aortic dissection
23493	HEY2	HP:0011106	Hypovolemia
23493	HEY2	HP:0001763	Pes planus
23493	HEY2	HP:0000525	Abnormality iris morphology
23495	TNFRSF13B	HP:0001287	Meningitis
23495	TNFRSF13B	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine
23495	TNFRSF13B	HP:0001392	Abnormality of the liver
23495	TNFRSF13B	HP:0002664	Neoplasm
23495	TNFRSF13B	HP:0000007	Autosomal recessive inheritance
23495	TNFRSF13B	HP:0002665	Lymphoma
23495	TNFRSF13B	HP:0000006	Autosomal dominant inheritance
23495	TNFRSF13B	HP:0002633	Vasculitis
23495	TNFRSF13B	HP:0002718	Recurrent bacterial infections
23495	TNFRSF13B	HP:0002716	Lymphadenopathy
23495	TNFRSF13B	HP:0002729	Follicular hyperplasia
23495	TNFRSF13B	HP:0002720	Decreased circulating IgA level
23495	TNFRSF13B	HP:0002721	Immunodeficiency
23495	TNFRSF13B	HP:0002023	Anal atresia
23495	TNFRSF13B	HP:0002014	Diarrhea
23495	TNFRSF13B	HP:0002097	Emphysema
23495	TNFRSF13B	HP:0002090	Pneumonia
23495	TNFRSF13B	HP:0002091	Restrictive ventilatory defect
23495	TNFRSF13B	HP:0004798	Recurrent infection of the gastrointestinal tract
23495	TNFRSF13B	HP:0002110	Bronchiectasis
23495	TNFRSF13B	HP:0011839	Abnormal T cell count
23495	TNFRSF13B	HP:0002240	Hepatomegaly
23495	TNFRSF13B	HP:0002205	Recurrent respiratory infections
23495	TNFRSF13B	HP:0100723	Gastrointestinal stroma tumor
23495	TNFRSF13B	HP:0001973	Autoimmune thrombocytopenia
23495	TNFRSF13B	HP:0004315	Decreased circulating IgG level
23495	TNFRSF13B	HP:0004332	Abnormal lymphocyte morphology
23495	TNFRSF13B	HP:0004313	Decreased circulating antibody level
23495	TNFRSF13B	HP:0000979	Purpura
23495	TNFRSF13B	HP:0002829	Arthralgia
23495	TNFRSF13B	HP:0000248	Brachycephaly
23495	TNFRSF13B	HP:0001531	Failure to thrive in infancy
23495	TNFRSF13B	HP:0002837	Recurrent bronchitis
23495	TNFRSF13B	HP:0002850	Decreased circulating total IgM
23495	TNFRSF13B	HP:0000389	Chronic otitis media
23495	TNFRSF13B	HP:0000388	Otitis media
23495	TNFRSF13B	HP:0006532	Recurrent pneumonia
23495	TNFRSF13B	HP:0002910	Elevated hepatic transaminase
23495	TNFRSF13B	HP:0002960	Autoimmunity
23495	TNFRSF13B	HP:0005387	Combined immunodeficiency
23495	TNFRSF13B	HP:0000403	Recurrent otitis media
23495	TNFRSF13B	HP:0011108	Recurrent sinusitis
23495	TNFRSF13B	HP:0001744	Splenomegaly
23495	TNFRSF13B	HP:0005425	Recurrent sinopulmonary infections
23495	TNFRSF13B	HP:0006783	Posterior pharyngeal cleft
23495	TNFRSF13B	HP:0005435	Impaired T cell function
23495	TNFRSF13B	HP:0000509	Conjunctivitis
23495	TNFRSF13B	HP:0001888	Lymphopenia
23495	TNFRSF13B	HP:0001878	Hemolytic anemia
23498	HAAO	HP:0001249	Intellectual disability
23498	HAAO	HP:0001263	Global developmental delay
23498	HAAO	HP:0000089	Renal hypoplasia
23498	HAAO	HP:0000076	Vesicoureteral reflux
23498	HAAO	HP:0000007	Autosomal recessive inheritance
23498	HAAO	HP:0000193	Bifid uvula
23498	HAAO	HP:0000176	Submucous cleft hard palate
23498	HAAO	HP:0003316	Butterfly vertebrae
23498	HAAO	HP:0005950	Laryngeal web
23498	HAAO	HP:0002144	Tethered cord
23498	HAAO	HP:0003577	Congenital onset
23498	HAAO	HP:0004322	Short stature
23498	HAAO	HP:0004383	Hypoplastic left heart
23498	HAAO	HP:0012821	Unilateral vocal cord paresis
23498	HAAO	HP:0010301	Spinal dysraphism
23498	HAAO	HP:0010305	Absence of the sacrum
23498	HAAO	HP:0000252	Microcephaly
23498	HAAO	HP:0001601	Laryngomalacia
23498	HAAO	HP:0000376	Incomplete partition of the cochlea type II
23498	HAAO	HP:0001650	Aortic valve stenosis
23498	HAAO	HP:0001631	Atrial septal defect
23498	HAAO	HP:0000407	Sensorineural hearing impairment
23498	HAAO	HP:0001718	Mitral stenosis
23498	HAAO	HP:0001883	Talipes
23499	MACF1	HP:0025100	Abnormal hippocampus morphology
23499	MACF1	HP:0025101	Dysgenesis of the hippocampus
23499	MACF1	HP:0010864	Intellectual disability, severe
23499	MACF1	HP:0001250	Seizure
23499	MACF1	HP:0001252	Hypotonia
23499	MACF1	HP:0001263	Global developmental delay
23499	MACF1	HP:0001257	Spasticity
23499	MACF1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
23499	MACF1	HP:0025336	Delayed ability to sit
23499	MACF1	HP:0033725	Thin corpus callosum
23499	MACF1	HP:0000011	Neurogenic bladder
23499	MACF1	HP:0001344	Absent speech
23499	MACF1	HP:0001339	Lissencephaly
23499	MACF1	HP:0000006	Autosomal dominant inheritance
23499	MACF1	HP:0001302	Pachygyria
23499	MACF1	HP:0001320	Cerebellar vermis hypoplasia
23499	MACF1	HP:0008936	Axial hypotonia
23499	MACF1	HP:0012110	Hypoplasia of the pons
23499	MACF1	HP:0002015	Dysphagia
23499	MACF1	HP:0002069	Bilateral tonic-clonic seizure
23499	MACF1	HP:0002079	Hypoplasia of the corpus callosum
23499	MACF1	HP:0034405	Enlarged tectum
23499	MACF1	HP:0003593	Infantile onset
23499	MACF1	HP:0100704	Cerebral visual impairment
23499	MACF1	HP:0011968	Feeding difficulties
23499	MACF1	HP:0002384	Focal impaired awareness seizure
23499	MACF1	HP:0002365	Hypoplasia of the brainstem
23499	MACF1	HP:0003621	Juvenile onset
23499	MACF1	HP:0000609	Optic nerve hypoplasia
23499	MACF1	HP:0004322	Short stature
23499	MACF1	HP:0004305	Involuntary movements
23499	MACF1	HP:0031936	Delayed ability to walk
23499	MACF1	HP:0000733	Abnormal repetitive mannerisms
23499	MACF1	HP:0011463	Childhood onset
23499	MACF1	HP:0012758	Neurodevelopmental delay
23499	MACF1	HP:0100307	Cerebellar hemisphere hypoplasia
23499	MACF1	HP:0000286	Epicanthus
23499	MACF1	HP:0002827	Hip dislocation
23499	MACF1	HP:0000252	Microcephaly
23499	MACF1	HP:0000369	Low-set ears
23499	MACF1	HP:0032794	Myoclonic seizure
23499	MACF1	HP:0000316	Hypertelorism
23499	MACF1	HP:0000324	Facial asymmetry
23499	MACF1	HP:0001629	Ventricular septal defect
23499	MACF1	HP:0030303	Hypoplastic anterior commissure
23499	MACF1	HP:0030301	Abnormality of the anterior commissure
23499	MACF1	HP:0005280	Depressed nasal bridge
23499	MACF1	HP:0000486	Strabismus
23499	MACF1	HP:0012469	Infantile spasms
23500	DAAM2	HP:0003774	Stage 5 chronic kidney disease
23500	DAAM2	HP:0002586	Peritonitis
23500	DAAM2	HP:0000097	Focal segmental glomerulosclerosis
23500	DAAM2	HP:0000093	Proteinuria
23500	DAAM2	HP:0000007	Autosomal recessive inheritance
23500	DAAM2	HP:0031266	Podocyte foot process effacement
23500	DAAM2	HP:0002027	Abdominal pain
23500	DAAM2	HP:0100539	Periorbital edema
23500	DAAM2	HP:0033132	Renal cortical hyperechogenicity
23500	DAAM2	HP:0011947	Respiratory tract infection
23500	DAAM2	HP:0002315	Headache
23500	DAAM2	HP:0003621	Juvenile onset
23500	DAAM2	HP:0012622	Chronic kidney disease
23500	DAAM2	HP:0001967	Diffuse mesangial sclerosis
23500	DAAM2	HP:0001945	Fever
23500	DAAM2	HP:0003073	Hypoalbuminemia
23500	DAAM2	HP:0000737	Irritability
23500	DAAM2	HP:0000707	Abnormality of the nervous system
23500	DAAM2	HP:0011463	Childhood onset
23500	DAAM2	HP:0000969	Edema
23500	DAAM2	HP:0031504	Foamy urine
23500	DAAM2	HP:0012588	Steroid-resistant nephrotic syndrome
23500	DAAM2	HP:0012579	Minimal change glomerulonephritis
23503	ZFYVE26	HP:0001152	Saccadic smooth pursuit
23503	ZFYVE26	HP:0002495	Impaired vibratory sensation
23503	ZFYVE26	HP:0001288	Gait disturbance
23503	ZFYVE26	HP:0001250	Seizure
23503	ZFYVE26	HP:0001251	Ataxia
23503	ZFYVE26	HP:0001249	Intellectual disability
23503	ZFYVE26	HP:0001260	Dysarthria
23503	ZFYVE26	HP:0001258	Spastic paraplegia
23503	ZFYVE26	HP:0001257	Spasticity
23503	ZFYVE26	HP:0007340	Lower limb muscle weakness
23503	ZFYVE26	HP:0002500	Abnormal cerebral white matter morphology
23503	ZFYVE26	HP:0012045	Retinal flecks
23503	ZFYVE26	HP:0000020	Urinary incontinence
23503	ZFYVE26	HP:0001347	Hyperreflexia
23503	ZFYVE26	HP:0001328	Specific learning disability
23503	ZFYVE26	HP:0001324	Muscle weakness
23503	ZFYVE26	HP:0000012	Urinary urgency
23503	ZFYVE26	HP:0000007	Autosomal recessive inheritance
23503	ZFYVE26	HP:0000009	Functional abnormality of the bladder
23503	ZFYVE26	HP:0001317	Abnormal cerebellum morphology
23503	ZFYVE26	HP:0002607	Bowel incontinence
23503	ZFYVE26	HP:0007663	Reduced visual acuity
23503	ZFYVE26	HP:0008969	Leg muscle stiffness
23503	ZFYVE26	HP:0000118	Phenotypic abnormality
23503	ZFYVE26	HP:0100543	Cognitive impairment
23503	ZFYVE26	HP:0002064	Spastic gait
23503	ZFYVE26	HP:0002061	Lower limb spasticity
23503	ZFYVE26	HP:0002079	Hypoplasia of the corpus callosum
23503	ZFYVE26	HP:0002071	Abnormality of extrapyramidal motor function
23503	ZFYVE26	HP:0003477	Peripheral axonal neuropathy
23503	ZFYVE26	HP:0002145	Frontotemporal dementia
23503	ZFYVE26	HP:0003487	Babinski sign
23503	ZFYVE26	HP:0003484	Upper limb muscle weakness
23503	ZFYVE26	HP:0002169	Clonus
23503	ZFYVE26	HP:0010550	Paraplegia
23503	ZFYVE26	HP:0007024	Pseudobulbar paralysis
23503	ZFYVE26	HP:0002395	Lower limb hyperreflexia
23503	ZFYVE26	HP:0003693	Distal amyotrophy
23503	ZFYVE26	HP:0002378	Hand tremor
23503	ZFYVE26	HP:0003676	Progressive
23503	ZFYVE26	HP:0007108	Demyelinating peripheral neuropathy
23503	ZFYVE26	HP:0030506	Yellow/white lesions of the retina
23503	ZFYVE26	HP:0000639	Nystagmus
23503	ZFYVE26	HP:0000608	Macular degeneration
23503	ZFYVE26	HP:0006986	Upper limb spasticity
23503	ZFYVE26	HP:0000712	Emotional lability
23503	ZFYVE26	HP:0000726	Dementia
23503	ZFYVE26	HP:0000709	Psychosis
23503	ZFYVE26	HP:0000708	Atypical behavior
23503	ZFYVE26	HP:0000819	Diabetes mellitus
23503	ZFYVE26	HP:0030892	Deep cerebral white matter hyperintensities
23503	ZFYVE26	HP:0002839	Urinary bladder sphincter dysfunction
23503	ZFYVE26	HP:0000496	Abnormality of eye movement
23503	ZFYVE26	HP:0001761	Pes cavus
23503	ZFYVE26	HP:0000505	Visual impairment
23503	ZFYVE26	HP:0000580	Pigmentary retinopathy
23503	ZFYVE26	HP:0000546	Retinal degeneration
23509	POFUT1	HP:0001155	Abnormality of the hand
23509	POFUT1	HP:0001231	Abnormal fingernail morphology
23509	POFUT1	HP:0001369	Arthritis
23509	POFUT1	HP:0007502	Follicular hyperkeratosis
23509	POFUT1	HP:0007456	Progressive reticulate hyperpigmentation
23509	POFUT1	HP:0000006	Autosomal dominant inheritance
23509	POFUT1	HP:0025473	Hyperpigmented papule
23509	POFUT1	HP:0031293	Digital pitting scar
23509	POFUT1	HP:0007588	Reticular hyperpigmentation
23509	POFUT1	HP:0002046	Heat intolerance
23509	POFUT1	HP:0009719	Hypomelanotic macule
23509	POFUT1	HP:0010610	Palmar pits
23509	POFUT1	HP:0020073	Hypopigmented macule
23509	POFUT1	HP:0001034	Hypermelanotic macule
23509	POFUT1	HP:0200037	Skin vesicle
23509	POFUT1	HP:0200040	Epidermoid cyst
23509	POFUT1	HP:0011354	Generalized abnormality of skin
23509	POFUT1	HP:0009123	Mixed hypo- and hyperpigmentation of the skin
23509	POFUT1	HP:0012855	Scrotal hyperpigmentation
23509	POFUT1	HP:0045059	Hyperkeratotic papule
23509	POFUT1	HP:0000989	Pruritus
23509	POFUT1	HP:0000962	Hyperkeratosis
23509	POFUT1	HP:0040154	Acne inversa
23509	POFUT1	HP:0030052	Inguinal freckling
23509	POFUT1	HP:0031525	Keratoacanthoma
23509	POFUT1	HP:0031447	Penile freckling
23509	POFUT1	HP:0000464	Abnormality of the neck
23509	POFUT1	HP:0030442	Anal margin squamous cell carcinoma
23509	POFUT1	HP:0030350	Erythematous papule
23511	NUP188	HP:0002553	Highly arched eyebrow
23511	NUP188	HP:0025325	Sparse medial eyebrow
23511	NUP188	HP:0000007	Autosomal recessive inheritance
23511	NUP188	HP:0007598	Bilateral single transverse palmar creases
23511	NUP188	HP:0002079	Hypoplasia of the corpus callosum
23511	NUP188	HP:0002119	Ventriculomegaly
23511	NUP188	HP:0002188	Delayed CNS myelination
23511	NUP188	HP:0002353	EEG abnormality
23511	NUP188	HP:0011451	Primary microcephaly
23511	NUP188	HP:0011623	Muscular ventricular septal defect
23511	NUP188	HP:0011682	Perimembranous ventricular septal defect
23511	NUP188	HP:0000286	Epicanthus
23511	NUP188	HP:0000278	Retrognathia
23511	NUP188	HP:0030084	Clinodactyly
23511	NUP188	HP:0000243	Trigonocephaly
23511	NUP188	HP:0002878	Respiratory failure
23511	NUP188	HP:0000218	High palate
23511	NUP188	HP:0001558	Decreased fetal movement
23511	NUP188	HP:0000202	Orofacial cleft
23511	NUP188	HP:0001518	Small for gestational age
23511	NUP188	HP:0001511	Intrauterine growth retardation
23511	NUP188	HP:0012385	Camptodactyly
23511	NUP188	HP:0000369	Low-set ears
23511	NUP188	HP:0000341	Narrow forehead
23511	NUP188	HP:0006610	Wide intermamillary distance
23511	NUP188	HP:0000470	Short neck
23511	NUP188	HP:0000444	Convex nasal ridge
23511	NUP188	HP:0000431	Wide nasal bridge
23511	NUP188	HP:0011272	Underdeveloped tragus
23511	NUP188	HP:0005487	Prominent metopic ridge
23511	NUP188	HP:0000519	Developmental cataract
23511	NUP188	HP:0001838	Rocker bottom foot
23511	NUP188	HP:0011236	Angulated antihelix
23511	NUP188	HP:0011230	Laterally extended eyebrow
23511	NUP188	HP:0000568	Microphthalmia
23512	SUZ12	HP:0001176	Large hands
23512	SUZ12	HP:0001290	Generalized hypotonia
23512	SUZ12	HP:0001276	Hypertonia
23512	SUZ12	HP:0001274	Agenesis of corpus callosum
23512	SUZ12	HP:0001249	Intellectual disability
23512	SUZ12	HP:0001263	Global developmental delay
23512	SUZ12	HP:0001257	Spasticity
23512	SUZ12	HP:0001231	Abnormal fingernail morphology
23512	SUZ12	HP:0006101	Finger syndactyly
23512	SUZ12	HP:0008736	Hypoplasia of penis
23512	SUZ12	HP:0000098	Tall stature
23512	SUZ12	HP:0001387	Joint stiffness
23512	SUZ12	HP:0000023	Inguinal hernia
23512	SUZ12	HP:0000028	Cryptorchidism
23512	SUZ12	HP:0008872	Feeding difficulties in infancy
23512	SUZ12	HP:0000006	Autosomal dominant inheritance
23512	SUZ12	HP:0002650	Scoliosis
23512	SUZ12	HP:0002002	Deep philtrum
23512	SUZ12	HP:0002126	Polymicrogyria
23512	SUZ12	HP:0100490	Camptodactyly of finger
23512	SUZ12	HP:0002213	Fine hair
23512	SUZ12	HP:0003517	Birth length greater than 97th percentile
23512	SUZ12	HP:0011304	Broad thumb
23512	SUZ12	HP:0005616	Accelerated skeletal maturation
23512	SUZ12	HP:0030680	Abnormality of cardiovascular system morphology
23512	SUZ12	HP:0005692	Joint hyperflexibility
23512	SUZ12	HP:0012811	Wide nasal ridge
23512	SUZ12	HP:0000998	Hypertrichosis
23512	SUZ12	HP:0000995	Melanocytic nevus
23512	SUZ12	HP:0010300	Abnormally low-pitched voice
23512	SUZ12	HP:0000944	Abnormal metaphysis morphology
23512	SUZ12	HP:0000278	Retrognathia
23512	SUZ12	HP:0000256	Macrocephaly
23512	SUZ12	HP:0030084	Clinodactyly
23512	SUZ12	HP:0001582	Redundant skin
23512	SUZ12	HP:0001548	Overgrowth
23512	SUZ12	HP:0001545	Anteriorly placed anus
23512	SUZ12	HP:0001537	Umbilical hernia
23512	SUZ12	HP:0012385	Camptodactyly
23512	SUZ12	HP:0001609	Hoarse voice
23512	SUZ12	HP:0000368	Low-set, posteriorly rotated ears
23512	SUZ12	HP:0000343	Long philtrum
23512	SUZ12	HP:0000337	Broad forehead
23512	SUZ12	HP:0000336	Prominent supraorbital ridges
23512	SUZ12	HP:0000347	Micrognathia
23512	SUZ12	HP:0000316	Hypertelorism
23512	SUZ12	HP:0000311	Round face
23512	SUZ12	HP:0000303	Mandibular prognathia
23512	SUZ12	HP:0000400	Macrotia
23512	SUZ12	HP:0000494	Downslanted palpebral fissures
23512	SUZ12	HP:0001769	Broad foot
23512	SUZ12	HP:0001762	Talipes equinovarus
23512	SUZ12	HP:0001761	Pes cavus
23512	SUZ12	HP:0001852	Sandal gap
23512	SUZ12	HP:0001833	Long foot
23512	SUZ12	HP:0001800	Hypoplastic toenails
23512	SUZ12	HP:0001816	Thin nail
23512	SUZ12	HP:0001814	Deep-set nails
23512	SUZ12	HP:0011220	Prominent forehead
23514	SPIDR	HP:0001166	Arachnodactyly
23514	SPIDR	HP:0009888	Abnormality of secondary sexual hair
23514	SPIDR	HP:0001251	Ataxia
23514	SPIDR	HP:0008724	Hypoplasia of the ovary
23514	SPIDR	HP:0008684	Aplasia/hypoplasia of the uterus
23514	SPIDR	HP:0000062	Ambiguous genitalia
23514	SPIDR	HP:0000013	Hypoplasia of the uterus
23514	SPIDR	HP:0000007	Autosomal recessive inheritance
23514	SPIDR	HP:0031103	Decreased cirrculating antimullerian hormone circulation
23514	SPIDR	HP:0000144	Decreased fertility
23514	SPIDR	HP:0000133	Gonadal dysgenesis
23514	SPIDR	HP:0002750	Delayed skeletal maturation
23514	SPIDR	HP:0010464	Streak ovary
23514	SPIDR	HP:0008232	Elevated circulating follicle stimulating hormone level
23514	SPIDR	HP:0008209	Premature ovarian insufficiency
23514	SPIDR	HP:0008214	Decreased serum estradiol
23514	SPIDR	HP:0002225	Sparse pubic hair
23514	SPIDR	HP:0002206	Pulmonary fibrosis
23514	SPIDR	HP:0011969	Elevated circulating luteinizing hormone level
23514	SPIDR	HP:0003621	Juvenile onset
23514	SPIDR	HP:0001939	Abnormality of metabolism/homeostasis
23514	SPIDR	HP:0004322	Short stature
23514	SPIDR	HP:0005625	Osteoporosis of vertebrae
23514	SPIDR	HP:0004349	Reduced bone mineral density
23514	SPIDR	HP:0000786	Primary amenorrhea
23514	SPIDR	HP:0000869	Secondary amenorrhea
23514	SPIDR	HP:0000837	Increased circulating gonadotropin level
23514	SPIDR	HP:0000823	Delayed puberty
23514	SPIDR	HP:0010311	Aplasia/Hypoplasia of the breasts
23514	SPIDR	HP:0000938	Osteopenia
23514	SPIDR	HP:0000252	Microcephaly
23514	SPIDR	HP:0000365	Hearing impairment
23516	SLC39A14	HP:0002483	Bulbar signs
23516	SLC39A14	HP:0002465	Poor speech
23516	SLC39A14	HP:0002451	Limb dystonia
23516	SLC39A14	HP:0007325	Generalized dystonia
23516	SLC39A14	HP:0009926	Epiphora
23516	SLC39A14	HP:0001272	Cerebellar atrophy
23516	SLC39A14	HP:0001288	Gait disturbance
23516	SLC39A14	HP:0001252	Hypotonia
23516	SLC39A14	HP:0001249	Intellectual disability
23516	SLC39A14	HP:0001263	Global developmental delay
23516	SLC39A14	HP:0001257	Spasticity
23516	SLC39A14	HP:0002540	Inability to walk
23516	SLC39A14	HP:0002505	Loss of ambulation
23516	SLC39A14	HP:0012048	Oromandibular dystonia
23516	SLC39A14	HP:0001348	Brisk reflexes
23516	SLC39A14	HP:0001347	Hyperreflexia
23516	SLC39A14	HP:0001332	Dystonia
23516	SLC39A14	HP:0001344	Absent speech
23516	SLC39A14	HP:0000007	Autosomal recessive inheritance
23516	SLC39A14	HP:0001337	Tremor
23516	SLC39A14	HP:0000006	Autosomal dominant inheritance
23516	SLC39A14	HP:0002650	Scoliosis
23516	SLC39A14	HP:0001300	Parkinsonism
23516	SLC39A14	HP:0007663	Reduced visual acuity
23516	SLC39A14	HP:0008936	Axial hypotonia
23516	SLC39A14	HP:0002067	Bradykinesia
23516	SLC39A14	HP:0002059	Cerebral atrophy
23516	SLC39A14	HP:0003487	Babinski sign
23516	SLC39A14	HP:0002179	Opisthotonus
23516	SLC39A14	HP:0003593	Infantile onset
23516	SLC39A14	HP:0032097	Hypermanganesemia
23516	SLC39A14	HP:0010628	Facial palsy
23516	SLC39A14	HP:0007099	Chiari type I malformation
23516	SLC39A14	HP:0002375	Hypokinesia
23516	SLC39A14	HP:0002376	Developmental regression
23516	SLC39A14	HP:0002344	Progressive neurologic deterioration
23516	SLC39A14	HP:0003676	Progressive
23516	SLC39A14	HP:0002315	Headache
23516	SLC39A14	HP:0200026	Ocular pain
23516	SLC39A14	HP:0100660	Dyskinesia
23516	SLC39A14	HP:0002312	Clumsiness
23516	SLC39A14	HP:0003621	Juvenile onset
23516	SLC39A14	HP:0006895	Lower limb hypertonia
23516	SLC39A14	HP:0000648	Optic atrophy
23516	SLC39A14	HP:0009062	Infantile axial hypotonia
23516	SLC39A14	HP:0000737	Irritability
23516	SLC39A14	HP:0011462	Young adult onset
23516	SLC39A14	HP:0011448	Ankle clonus
23516	SLC39A14	HP:0003121	Limb joint contracture
23516	SLC39A14	HP:0005746	Osteosclerosis of the base of the skull
23516	SLC39A14	HP:0004409	Hyposmia
23516	SLC39A14	HP:0004490	Calvarial hyperostosis
23516	SLC39A14	HP:0003236	Elevated circulating creatine kinase concentration
23516	SLC39A14	HP:0005890	Hyperostosis cranialis interna
23516	SLC39A14	HP:0030890	Hyperintensity of cerebral white matter on MRI
23516	SLC39A14	HP:0000975	Hyperhidrosis
23516	SLC39A14	HP:0000265	Mastoiditis
23516	SLC39A14	HP:0000256	Macrocephaly
23516	SLC39A14	HP:0002828	Multiple joint contractures
23516	SLC39A14	HP:0000253	Progressive microcephaly
23516	SLC39A14	HP:0000252	Microcephaly
23516	SLC39A14	HP:0030051	Tip-toe gait
23516	SLC39A14	HP:0005216	Impaired mastication
23516	SLC39A14	HP:0000360	Tinnitus
23516	SLC39A14	HP:0000338	Hypomimic face
23516	SLC39A14	HP:0007906	Ocular hypertension
23516	SLC39A14	HP:0000407	Sensorineural hearing impairment
23516	SLC39A14	HP:0000458	Anosmia
23516	SLC39A14	HP:0001771	Achilles tendon contracture
23516	SLC39A14	HP:0001751	Abnormal vestibular function
23516	SLC39A14	HP:0012407	Scissor gait
23516	SLC39A14	HP:0005484	Secondary microcephaly
23516	SLC39A14	HP:0000520	Proptosis
23522	KAT6B	HP:0001156	Brachydactyly
23522	KAT6B	HP:0010864	Intellectual disability, severe
23522	KAT6B	HP:0001290	Generalized hypotonia
23522	KAT6B	HP:0001274	Agenesis of corpus callosum
23522	KAT6B	HP:0001270	Motor delay
23522	KAT6B	HP:0001250	Seizure
23522	KAT6B	HP:0001252	Hypotonia
23522	KAT6B	HP:0001249	Intellectual disability
23522	KAT6B	HP:0001263	Global developmental delay
23522	KAT6B	HP:0008683	Enlarged labia minora
23522	KAT6B	HP:0008665	Clitoral hypertrophy
23522	KAT6B	HP:0000066	Labial hypoplasia
23522	KAT6B	HP:0001374	Congenital hip dislocation
23522	KAT6B	HP:0000046	Small scrotum
23522	KAT6B	HP:0000054	Micropenis
23522	KAT6B	HP:0000047	Hypospadias
23522	KAT6B	HP:0000028	Cryptorchidism
23522	KAT6B	HP:0008823	Hypoplastic inferior pubic rami
23522	KAT6B	HP:0033725	Thin corpus callosum
23522	KAT6B	HP:0001328	Specific learning disability
23522	KAT6B	HP:0000003	Multicystic kidney dysplasia
23522	KAT6B	HP:0000006	Autosomal dominant inheritance
23522	KAT6B	HP:0001302	Pachygyria
23522	KAT6B	HP:0002650	Scoliosis
23522	KAT6B	HP:0000193	Bifid uvula
23522	KAT6B	HP:0000176	Submucous cleft hard palate
23522	KAT6B	HP:0000175	Cleft palate
23522	KAT6B	HP:0007598	Bilateral single transverse palmar creases
23522	KAT6B	HP:0032524	Long thumb
23522	KAT6B	HP:0000126	Hydronephrosis
23522	KAT6B	HP:0002025	Anal stenosis
23522	KAT6B	HP:0002023	Anal atresia
23522	KAT6B	HP:0002020	Gastroesophageal reflux
23522	KAT6B	HP:0005990	Thyroid hypoplasia
23522	KAT6B	HP:0002015	Dysphagia
23522	KAT6B	HP:0002089	Pulmonary hypoplasia
23522	KAT6B	HP:0008191	Thyroid agenesis
23522	KAT6B	HP:0008188	Thyroid dysgenesis
23522	KAT6B	HP:0004794	Malrotation of small bowel
23522	KAT6B	HP:0002104	Apnea
23522	KAT6B	HP:0100490	Camptodactyly of finger
23522	KAT6B	HP:0003593	Infantile onset
23522	KAT6B	HP:0002213	Fine hair
23522	KAT6B	HP:0002209	Sparse scalp hair
23522	KAT6B	HP:0002205	Recurrent respiratory infections
23522	KAT6B	HP:0009738	Abnormal antihelix morphology
23522	KAT6B	HP:0011968	Feeding difficulties
23522	KAT6B	HP:0003510	Severe short stature
23522	KAT6B	HP:0100648	Neoplasm of the tongue
23522	KAT6B	HP:0009803	Short phalanx of finger
23522	KAT6B	HP:0007165	Periventricular heterotopia
23522	KAT6B	HP:0004209	Clinodactyly of the 5th finger
23522	KAT6B	HP:0004279	Short palm
23522	KAT6B	HP:0006887	Intellectual disability, progressive
23522	KAT6B	HP:0000614	Abnormal nasolacrimal system morphology
23522	KAT6B	HP:0000684	Delayed eruption of teeth
23522	KAT6B	HP:0000691	Microdontia
23522	KAT6B	HP:0004322	Short stature
23522	KAT6B	HP:0005692	Joint hyperflexibility
23522	KAT6B	HP:0012745	Short palpebral fissure
23522	KAT6B	HP:0100028	Ectopic thyroid
23522	KAT6B	HP:0000750	Delayed speech and language development
23522	KAT6B	HP:0004426	Abnormal cheek morphology
23522	KAT6B	HP:0003175	Hypoplastic ischia
23522	KAT6B	HP:0003189	Long nose
23522	KAT6B	HP:0000821	Hypothyroidism
23522	KAT6B	HP:0003273	Hip contracture
23522	KAT6B	HP:0000946	Hypoplastic ilia
23522	KAT6B	HP:0000280	Coarse facial features
23522	KAT6B	HP:0000278	Retrognathia
23522	KAT6B	HP:0000269	Prominent occiput
23522	KAT6B	HP:0006443	Patellar aplasia
23522	KAT6B	HP:0002804	Arthrogryposis multiplex congenita
23522	KAT6B	HP:0006380	Knee flexion contracture
23522	KAT6B	HP:0000252	Microcephaly
23522	KAT6B	HP:0000219	Thin upper lip vermilion
23522	KAT6B	HP:0001545	Anteriorly placed anus
23522	KAT6B	HP:0001561	Polyhydramnios
23522	KAT6B	HP:0001508	Failure to thrive
23522	KAT6B	HP:0030048	Colpocephaly
23522	KAT6B	HP:0001510	Growth delay
23522	KAT6B	HP:0001601	Laryngomalacia
23522	KAT6B	HP:0000365	Hearing impairment
23522	KAT6B	HP:0000358	Posteriorly rotated ears
23522	KAT6B	HP:0000369	Low-set ears
23522	KAT6B	HP:0000340	Sloping forehead
23522	KAT6B	HP:0000343	Long philtrum
23522	KAT6B	HP:0002999	Patellar dislocation
23522	KAT6B	HP:0000347	Micrognathia
23522	KAT6B	HP:0000316	Hypertelorism
23522	KAT6B	HP:0001643	Patent ductus arteriosus
23522	KAT6B	HP:0002974	Radioulnar synostosis
23522	KAT6B	HP:0001644	Dilated cardiomyopathy
23522	KAT6B	HP:0001629	Ventricular septal defect
23522	KAT6B	HP:0001631	Atrial septal defect
23522	KAT6B	HP:0006695	Atrioventricular canal defect
23522	KAT6B	HP:0005280	Depressed nasal bridge
23522	KAT6B	HP:0000494	Downslanted palpebral fissures
23522	KAT6B	HP:0000448	Prominent nose
23522	KAT6B	HP:0000445	Wide nose
23522	KAT6B	HP:0000414	Bulbous nose
23522	KAT6B	HP:0001762	Talipes equinovarus
23522	KAT6B	HP:0000431	Wide nasal bridge
23522	KAT6B	HP:0000426	Prominent nasal bridge
23522	KAT6B	HP:0001847	Long hallux
23522	KAT6B	HP:0000581	Blepharophimosis
23522	KAT6B	HP:0000537	Epicanthus inversus
23529	CLCF1	HP:0001276	Hypertonia
23529	CLCF1	HP:0001250	Seizure
23529	CLCF1	HP:0025278	Cold-induced sweating
23529	CLCF1	HP:0001377	Limited elbow extension
23529	CLCF1	HP:0001376	Limitation of joint mobility
23529	CLCF1	HP:0001371	Flexion contracture
23529	CLCF1	HP:0000007	Autosomal recessive inheritance
23529	CLCF1	HP:0002650	Scoliosis
23529	CLCF1	HP:0000160	Narrow mouth
23529	CLCF1	HP:0004691	2-3 toe syndactyly
23529	CLCF1	HP:0100543	Cognitive impairment
23529	CLCF1	HP:0002093	Respiratory insufficiency
23529	CLCF1	HP:0002047	Malignant hyperthermia
23529	CLCF1	HP:0100490	Camptodactyly of finger
23529	CLCF1	HP:0100729	Large face
23529	CLCF1	HP:0011968	Feeding difficulties
23529	CLCF1	HP:0007141	Sensorimotor neuropathy
23529	CLCF1	HP:0000975	Hyperhidrosis
23529	CLCF1	HP:0000966	Hypohidrosis
23529	CLCF1	HP:0000293	Full cheeks
23529	CLCF1	HP:0030084	Clinodactyly
23529	CLCF1	HP:0002808	Kyphosis
23529	CLCF1	HP:0000218	High palate
23529	CLCF1	HP:0001522	Death in infancy
23529	CLCF1	HP:0002938	Lumbar hyperlordosis
23529	CLCF1	HP:0002944	Thoracolumbar scoliosis
23529	CLCF1	HP:0000343	Long philtrum
23529	CLCF1	HP:0000347	Micrognathia
23529	CLCF1	HP:0001645	Sudden cardiac death
23529	CLCF1	HP:0002967	Cubitus valgus
23529	CLCF1	HP:0030319	Weakness of facial musculature
23529	CLCF1	HP:0000463	Anteverted nares
23529	CLCF1	HP:0000445	Wide nose
23529	CLCF1	HP:0000411	Protruding ear
23530	NNT	HP:0002445	Tetraplegia
23530	NNT	HP:0001250	Seizure
23530	NNT	HP:0001249	Intellectual disability
23530	NNT	HP:0002574	Episodic abdominal pain
23530	NNT	HP:0007440	Generalized hyperpigmentation
23530	NNT	HP:0031076	Impaired cortisol response to insulin stimulation test
23530	NNT	HP:0000098	Tall stature
23530	NNT	HP:0000028	Cryptorchidism
23530	NNT	HP:0000027	Azoospermia
23530	NNT	HP:0001325	Hypoglycemic coma
23530	NNT	HP:0000010	Recurrent urinary tract infections
23530	NNT	HP:0000007	Autosomal recessive inheritance
23530	NNT	HP:0002615	Hypotension
23530	NNT	HP:0025451	Testicular adrenal rest tumor
23530	NNT	HP:0000127	Renal salt wasting
23530	NNT	HP:0031214	Decreased circulating dehydroepiandrosterone concentration
23530	NNT	HP:0002719	Recurrent infections
23530	NNT	HP:0002019	Constipation
23530	NNT	HP:0002014	Diarrhea
23530	NNT	HP:0002013	Vomiting
23530	NNT	HP:0002039	Anorexia
23530	NNT	HP:0008163	Decreased circulating cortisol level
23530	NNT	HP:0002153	Hyperkalemia
23530	NNT	HP:0002173	Hypoglycemic seizures
23530	NNT	HP:0100618	Leydig cell neoplasia
23530	NNT	HP:0012605	Hypernatriuria
23530	NNT	HP:0001943	Hypoglycemia
23530	NNT	HP:0004319	Decreased circulating aldosterone level
23530	NNT	HP:0012734	Ketotic hypoglycemia
23530	NNT	HP:0003154	Increased circulating ACTH level
23530	NNT	HP:0000851	Congenital hypothyroidism
23530	NNT	HP:0000846	Adrenal insufficiency
23530	NNT	HP:0000826	Precocious puberty
23530	NNT	HP:0040084	Abnormal circulating renin
23530	NNT	HP:0040085	Abnormal circulating aldosterone
23530	NNT	HP:0001508	Failure to thrive
23530	NNT	HP:0011043	Abnormal circulating adrenocorticotropin concentration
23530	NNT	HP:0002902	Hyponatremia
23530	NNT	HP:0002960	Autoimmunity
23530	NNT	HP:0001639	Hypertrophic cardiomyopathy
23530	NNT	HP:0012432	Chronic fatigue
23530	NNT	HP:0001824	Weight loss
23533	PIK3R5	HP:0001152	Saccadic smooth pursuit
23533	PIK3R5	HP:0007256	Abnormal pyramidal sign
23533	PIK3R5	HP:0001272	Cerebellar atrophy
23533	PIK3R5	HP:0001284	Areflexia
23533	PIK3R5	HP:0001251	Ataxia
23533	PIK3R5	HP:0001265	Hyporeflexia
23533	PIK3R5	HP:0001266	Choreoathetosis
23533	PIK3R5	HP:0001260	Dysarthria
23533	PIK3R5	HP:0001332	Dystonia
23533	PIK3R5	HP:0001324	Muscle weakness
23533	PIK3R5	HP:0000007	Autosomal recessive inheritance
23533	PIK3R5	HP:0001310	Dysmetria
23533	PIK3R5	HP:0006254	Elevated circulating alpha-fetoprotein concentration
23533	PIK3R5	HP:0002015	Dysphagia
23533	PIK3R5	HP:0003477	Peripheral axonal neuropathy
23533	PIK3R5	HP:0003474	Somatic sensory dysfunction
23533	PIK3R5	HP:0002141	Gait imbalance
23533	PIK3R5	HP:0003487	Babinski sign
23533	PIK3R5	HP:0002174	Postural tremor
23533	PIK3R5	HP:0003693	Distal amyotrophy
23533	PIK3R5	HP:0002359	Frequent falls
23533	PIK3R5	HP:0003676	Progressive
23533	PIK3R5	HP:0002346	Head tremor
23533	PIK3R5	HP:0007141	Sensorimotor neuropathy
23533	PIK3R5	HP:0003621	Juvenile onset
23533	PIK3R5	HP:0006855	Cerebellar vermis atrophy
23533	PIK3R5	HP:0000640	Gaze-evoked nystagmus
23533	PIK3R5	HP:0000639	Nystagmus
23533	PIK3R5	HP:0000657	Oculomotor apraxia
23533	PIK3R5	HP:0003073	Hypoalbuminemia
23533	PIK3R5	HP:0003124	Hypercholesterolemia
23533	PIK3R5	HP:0003236	Elevated circulating creatine kinase concentration
23533	PIK3R5	HP:0002839	Urinary bladder sphincter dysfunction
23533	PIK3R5	HP:0002936	Distal sensory impairment
23533	PIK3R5	HP:0000486	Strabismus
23533	PIK3R5	HP:0025708	Early young adult onset
23533	PIK3R5	HP:0000514	Slow saccadic eye movements
23534	TNPO3	HP:0002460	Distal muscle weakness
23534	TNPO3	HP:0003749	Pelvic girdle muscle weakness
23534	TNPO3	HP:0003736	Autophagic vacuoles
23534	TNPO3	HP:0001278	Orthostatic hypotension
23534	TNPO3	HP:0001270	Motor delay
23534	TNPO3	HP:0001262	Excessive daytime somnolence
23534	TNPO3	HP:0003805	Rimmed vacuoles
23534	TNPO3	HP:0001399	Hepatic failure
23534	TNPO3	HP:0001395	Hepatic fibrosis
23534	TNPO3	HP:0001394	Cirrhosis
23534	TNPO3	HP:0000006	Autosomal dominant inheritance
23534	TNPO3	HP:0002613	Biliary cirrhosis
23534	TNPO3	HP:0002608	Celiac disease
23534	TNPO3	HP:0012115	Hepatitis
23534	TNPO3	HP:0001409	Portal hypertension
23534	TNPO3	HP:0001402	Hepatocellular carcinoma
23534	TNPO3	HP:0002747	Respiratory insufficiency due to muscle weakness
23534	TNPO3	HP:0002015	Dysphagia
23534	TNPO3	HP:0003306	Spinal rigidity
23534	TNPO3	HP:0003458	EMG: myopathic abnormalities
23534	TNPO3	HP:0003496	Increased circulating IgM level
23534	TNPO3	HP:0003493	Antinuclear antibody positivity
23534	TNPO3	HP:0003581	Adult onset
23534	TNPO3	HP:0003551	Difficulty climbing stairs
23534	TNPO3	HP:0003547	Shoulder girdle muscle weakness
23534	TNPO3	HP:0003560	Muscular dystrophy
23534	TNPO3	HP:0011971	Dermatographic urticaria
23534	TNPO3	HP:0002360	Sleep disturbance
23534	TNPO3	HP:0003691	Scapular winging
23534	TNPO3	HP:0003687	Centrally nucleated skeletal muscle fibers
23534	TNPO3	HP:0003621	Juvenile onset
23534	TNPO3	HP:0009046	Difficulty running
23534	TNPO3	HP:0003073	Hypoalbuminemia
23534	TNPO3	HP:0004386	Gastrointestinal inflammation
23534	TNPO3	HP:0031936	Delayed ability to walk
23534	TNPO3	HP:0003119	Abnormal circulating lipid concentration
23534	TNPO3	HP:0034291	Elevated circulating creatine concentration
23534	TNPO3	HP:0003155	Elevated circulating alkaline phosphatase concentration
23534	TNPO3	HP:0000820	Abnormality of the thyroid gland
23534	TNPO3	HP:0034392	Joint contracture
23534	TNPO3	HP:0003270	Abdominal distention
23534	TNPO3	HP:0003261	Increased circulating IgA level
23534	TNPO3	HP:0000989	Pruritus
23534	TNPO3	HP:0000953	Hyperpigmentation of the skin
23534	TNPO3	HP:0000952	Jaundice
23534	TNPO3	HP:0000939	Osteoporosis
23534	TNPO3	HP:0100297	Increased endomysial connective tissue
23534	TNPO3	HP:0012203	Onychomycosis
23534	TNPO3	HP:0001541	Ascites
23534	TNPO3	HP:0002841	Recurrent fungal infections
23534	TNPO3	HP:0012378	Fatigue
23534	TNPO3	HP:0011040	Abnormal intrahepatic bile duct morphology
23534	TNPO3	HP:0002908	Conjugated hyperbilirubinemia
23534	TNPO3	HP:0002960	Autoimmunity
23534	TNPO3	HP:0000508	Ptosis
23545	ATP6V0A2	HP:0002465	Poor speech
23545	ATP6V0A2	HP:0025167	Fragmented elastic fibers in the dermis
23545	ATP6V0A2	HP:0001290	Generalized hypotonia
23545	ATP6V0A2	HP:0025244	Subretinal pigment epithelium hemorrhage
23545	ATP6V0A2	HP:0001270	Motor delay
23545	ATP6V0A2	HP:0001250	Seizure
23545	ATP6V0A2	HP:0001252	Hypotonia
23545	ATP6V0A2	HP:0001249	Intellectual disability
23545	ATP6V0A2	HP:0001263	Global developmental delay
23545	ATP6V0A2	HP:0001257	Spasticity
23545	ATP6V0A2	HP:0025201	Abnormal circulating apolipoprotein concentration
23545	ATP6V0A2	HP:0006114	Multiple palmar creases
23545	ATP6V0A2	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers
23545	ATP6V0A2	HP:0007414	Neonatal wrinkled skin of hands and feet
23545	ATP6V0A2	HP:0100874	Thick hair
23545	ATP6V0A2	HP:0007392	Excessive wrinkled skin
23545	ATP6V0A2	HP:0010989	Abnormality of the intrinsic pathway
23545	ATP6V0A2	HP:0001374	Congenital hip dislocation
23545	ATP6V0A2	HP:0001382	Joint hypermobility
23545	ATP6V0A2	HP:0000023	Inguinal hernia
23545	ATP6V0A2	HP:0001350	Slurred speech
23545	ATP6V0A2	HP:0000028	Cryptorchidism
23545	ATP6V0A2	HP:0008897	Postnatal growth retardation
23545	ATP6V0A2	HP:0007552	Abnormal subcutaneous fat tissue distribution
23545	ATP6V0A2	HP:0008872	Feeding difficulties in infancy
23545	ATP6V0A2	HP:0007517	Palmoplantar cutis laxa
23545	ATP6V0A2	HP:0006191	Deep palmar crease
23545	ATP6V0A2	HP:0007457	Prominent veins on trunk
23545	ATP6V0A2	HP:0001339	Lissencephaly
23545	ATP6V0A2	HP:0000007	Autosomal recessive inheritance
23545	ATP6V0A2	HP:0001305	Dandy-Walker malformation
23545	ATP6V0A2	HP:0001302	Pachygyria
23545	ATP6V0A2	HP:0001320	Cerebellar vermis hypoplasia
23545	ATP6V0A2	HP:0002650	Scoliosis
23545	ATP6V0A2	HP:0001321	Cerebellar hypoplasia
23545	ATP6V0A2	HP:0002645	Wormian bones
23545	ATP6V0A2	HP:0000160	Narrow mouth
23545	ATP6V0A2	HP:0001476	Delayed closure of the anterior fontanelle
23545	ATP6V0A2	HP:0008947	Infantile muscular hypotonia
23545	ATP6V0A2	HP:0002761	Generalized joint laxity
23545	ATP6V0A2	HP:0002751	Kyphoscoliosis
23545	ATP6V0A2	HP:0005989	Redundant neck skin
23545	ATP6V0A2	HP:0002007	Frontal bossing
23545	ATP6V0A2	HP:0011800	Midface retrusion
23545	ATP6V0A2	HP:0002097	Emphysema
23545	ATP6V0A2	HP:0002073	Progressive cerebellar ataxia
23545	ATP6V0A2	HP:0008113	Multiple plantar creases
23545	ATP6V0A2	HP:0002133	Status epilepticus
23545	ATP6V0A2	HP:0002126	Polymicrogyria
23545	ATP6V0A2	HP:0002187	Intellectual disability, profound
23545	ATP6V0A2	HP:0003577	Congenital onset
23545	ATP6V0A2	HP:0002208	Coarse hair
23545	ATP6V0A2	HP:0200141	Small, conical teeth
23545	ATP6V0A2	HP:0010719	Abnormality of hair texture
23545	ATP6V0A2	HP:0002299	Brittle hair
23545	ATP6V0A2	HP:0011995	Atrial septal dilatation
23545	ATP6V0A2	HP:0011968	Feeding difficulties
23545	ATP6V0A2	HP:0003691	Scapular winging
23545	ATP6V0A2	HP:0002361	Psychomotor deterioration
23545	ATP6V0A2	HP:0004993	Slender long bones with narrow diaphyses
23545	ATP6V0A2	HP:0010838	High nonceruloplasmin-bound serum copper
23545	ATP6V0A2	HP:0006891	Thick cerebral cortex
23545	ATP6V0A2	HP:0000684	Delayed eruption of teeth
23545	ATP6V0A2	HP:0000691	Microdontia
23545	ATP6V0A2	HP:0009004	Hypoplasia of the musculature
23545	ATP6V0A2	HP:0000670	Carious teeth
23545	ATP6V0A2	HP:0004322	Short stature
23545	ATP6V0A2	HP:0000767	Pectus excavatum
23545	ATP6V0A2	HP:0000750	Delayed speech and language development
23545	ATP6V0A2	HP:0000726	Dementia
23545	ATP6V0A2	HP:0009125	Lipodystrophy
23545	ATP6V0A2	HP:0003100	Slender long bone
23545	ATP6V0A2	HP:0004426	Abnormal cheek morphology
23545	ATP6V0A2	HP:0030799	Scaphocephaly
23545	ATP6V0A2	HP:0003199	Decreased muscle mass
23545	ATP6V0A2	HP:0003196	Short nose
23545	ATP6V0A2	HP:0003160	Abnormal isoelectric focusing of serum transferrin
23545	ATP6V0A2	HP:0000973	Cutis laxa
23545	ATP6V0A2	HP:0011623	Muscular ventricular septal defect
23545	ATP6V0A2	HP:0000938	Osteopenia
23545	ATP6V0A2	HP:0008070	Sparse hair
23545	ATP6V0A2	HP:0000286	Epicanthus
23545	ATP6V0A2	HP:0000260	Wide anterior fontanel
23545	ATP6V0A2	HP:0000270	Delayed cranial suture closure
23545	ATP6V0A2	HP:0000272	Malar flattening
23545	ATP6V0A2	HP:0002812	Coxa vara
23545	ATP6V0A2	HP:0002808	Kyphosis
23545	ATP6V0A2	HP:0000253	Progressive microcephaly
23545	ATP6V0A2	HP:0000252	Microcephaly
23545	ATP6V0A2	HP:0001582	Redundant skin
23545	ATP6V0A2	HP:0000218	High palate
23545	ATP6V0A2	HP:0001537	Umbilical hernia
23545	ATP6V0A2	HP:0001508	Failure to thrive
23545	ATP6V0A2	HP:0001511	Intrauterine growth retardation
23545	ATP6V0A2	HP:0012368	Flat face
23545	ATP6V0A2	HP:0001611	Hypernasal speech
23545	ATP6V0A2	HP:0011003	High myopia
23545	ATP6V0A2	HP:0000369	Low-set ears
23545	ATP6V0A2	HP:0000343	Long philtrum
23545	ATP6V0A2	HP:0000319	Smooth philtrum
23545	ATP6V0A2	HP:0000316	Hypertelorism
23545	ATP6V0A2	HP:0000308	Microretrognathia
23545	ATP6V0A2	HP:0005328	Progeroid facial appearance
23545	ATP6V0A2	HP:0005272	Prominent nasolabial fold
23545	ATP6V0A2	HP:0000486	Strabismus
23545	ATP6V0A2	HP:0000494	Downslanted palpebral fissures
23545	ATP6V0A2	HP:0000463	Anteverted nares
23545	ATP6V0A2	HP:0000455	Broad nasal tip
23545	ATP6V0A2	HP:0001788	Premature rupture of membranes
23545	ATP6V0A2	HP:0001799	Short nail
23545	ATP6V0A2	HP:0001763	Pes planus
23545	ATP6V0A2	HP:0001762	Talipes equinovarus
23545	ATP6V0A2	HP:0000431	Wide nasal bridge
23545	ATP6V0A2	HP:0005425	Recurrent sinopulmonary infections
23545	ATP6V0A2	HP:0001808	Fragile nails
23545	ATP6V0A2	HP:0000592	Blue sclerae
23545	ATP6V0A2	HP:0001869	Deep plantar creases
23545	ATP6V0A2	HP:0000545	Myopia
23554	TSPAN12	HP:0001147	Retinal exudate
23554	TSPAN12	HP:0001141	Severely reduced visual acuity
23554	TSPAN12	HP:0001270	Motor delay
23554	TSPAN12	HP:0100832	Vitreous floaters
23554	TSPAN12	HP:0001256	Intellectual disability, mild
23554	TSPAN12	HP:0000006	Autosomal dominant inheritance
23554	TSPAN12	HP:0001493	Falciform retinal fold
23554	TSPAN12	HP:0007685	Peripheral retinal avascularization
23554	TSPAN12	HP:0007663	Reduced visual acuity
23554	TSPAN12	HP:0001004	Lymphedema
23554	TSPAN12	HP:0030503	Macular telangiectasia
23554	TSPAN12	HP:0000618	Blindness
23554	TSPAN12	HP:0030490	Exudative vitreoretinopathy
23554	TSPAN12	HP:0030496	Macular exudate
23554	TSPAN12	HP:0011342	Mild global developmental delay
23554	TSPAN12	HP:0030666	Retinal neovascularization
23554	TSPAN12	HP:0004349	Reduced bone mineral density
23554	TSPAN12	HP:0100014	Epiretinal membrane
23554	TSPAN12	HP:0012795	Abnormal optic disc morphology
23554	TSPAN12	HP:0040049	Macular edema
23554	TSPAN12	HP:0007773	Vitreoretinopathy
23554	TSPAN12	HP:0012230	Rhegmatogenous retinal detachment
23554	TSPAN12	HP:0000252	Microcephaly
23554	TSPAN12	HP:0031526	Subretinal fluid
23554	TSPAN12	HP:0000365	Hearing impairment
23554	TSPAN12	HP:0007917	Tractional retinal detachment
23554	TSPAN12	HP:0007902	Vitreous hemorrhage
23554	TSPAN12	HP:0000518	Cataract
23554	TSPAN12	HP:0000505	Visual impairment
23554	TSPAN12	HP:0000594	Shallow anterior chamber
23554	TSPAN12	HP:0000568	Microphthalmia
23554	TSPAN12	HP:0000533	Chorioretinal atrophy
23556	PIGN	HP:0001182	Tapered finger
23556	PIGN	HP:0001156	Brachydactyly
23556	PIGN	HP:0008635	Hypertrophy of the urinary bladder
23556	PIGN	HP:0010880	Increased nuchal translucency
23556	PIGN	HP:0009882	Short distal phalanx of finger
23556	PIGN	HP:0008551	Microtia
23556	PIGN	HP:0001290	Generalized hypotonia
23556	PIGN	HP:0001272	Cerebellar atrophy
23556	PIGN	HP:0001274	Agenesis of corpus callosum
23556	PIGN	HP:0001250	Seizure
23556	PIGN	HP:0001252	Hypotonia
23556	PIGN	HP:0001249	Intellectual disability
23556	PIGN	HP:0001265	Hyporeflexia
23556	PIGN	HP:0001266	Choreoathetosis
23556	PIGN	HP:0001263	Global developmental delay
23556	PIGN	HP:0001257	Spasticity
23556	PIGN	HP:0002566	Intestinal malrotation
23556	PIGN	HP:0007441	Hyperpigmented/hypopigmented macules
23556	PIGN	HP:0008718	Unilateral renal dysplasia
23556	PIGN	HP:0008676	Congenital megaureter
23556	PIGN	HP:0003828	Variable expressivity
23556	PIGN	HP:0000076	Vesicoureteral reflux
23556	PIGN	HP:0000073	Ureteral duplication
23556	PIGN	HP:0000072	Hydroureter
23556	PIGN	HP:0000047	Hypospadias
23556	PIGN	HP:0001347	Hyperreflexia
23556	PIGN	HP:0000034	Hydrocele testis
23556	PIGN	HP:0000028	Cryptorchidism
23556	PIGN	HP:0008872	Feeding difficulties in infancy
23556	PIGN	HP:0006165	Proportionate shortening of all digits
23556	PIGN	HP:0001344	Absent speech
23556	PIGN	HP:0000007	Autosomal recessive inheritance
23556	PIGN	HP:0000003	Multicystic kidney dysplasia
23556	PIGN	HP:0001337	Tremor
23556	PIGN	HP:0001305	Dandy-Walker malformation
23556	PIGN	HP:0002616	Aortic root aneurysm
23556	PIGN	HP:0032464	Ureteral hypoplasia
23556	PIGN	HP:0032465	Bladder trabeculation
23556	PIGN	HP:0000194	Open mouth
23556	PIGN	HP:0000161	Median cleft lip
23556	PIGN	HP:0000160	Narrow mouth
23556	PIGN	HP:0000175	Cleft palate
23556	PIGN	HP:0000154	Wide mouth
23556	PIGN	HP:0008994	Proximal muscle weakness in lower limbs
23556	PIGN	HP:0006254	Elevated circulating alpha-fetoprotein concentration
23556	PIGN	HP:0000126	Hydronephrosis
23556	PIGN	HP:0000110	Renal dysplasia
23556	PIGN	HP:0002025	Anal stenosis
23556	PIGN	HP:0002023	Anal atresia
23556	PIGN	HP:0004681	Deep longitudinal plantar crease
23556	PIGN	HP:0002020	Gastroesophageal reflux
23556	PIGN	HP:0002015	Dysphagia
23556	PIGN	HP:0002007	Frontal bossing
23556	PIGN	HP:0003324	Generalized muscle weakness
23556	PIGN	HP:0002089	Pulmonary hypoplasia
23556	PIGN	HP:0002092	Pulmonary arterial hypertension
23556	PIGN	HP:0002079	Hypoplasia of the corpus callosum
23556	PIGN	HP:0002059	Cerebral atrophy
23556	PIGN	HP:0002120	Cerebral cortical atrophy
23556	PIGN	HP:0002119	Ventriculomegaly
23556	PIGN	HP:0002100	Recurrent aspiration pneumonia
23556	PIGN	HP:0004742	Abnormal renal collecting system morphology
23556	PIGN	HP:0010544	Vertical nystagmus
23556	PIGN	HP:0002265	Large fleshy ears
23556	PIGN	HP:0003577	Congenital onset
23556	PIGN	HP:0002251	Aganglionic megacolon
23556	PIGN	HP:0002247	Duodenal atresia
23556	PIGN	HP:0002286	Fair hair
23556	PIGN	HP:0025025	Rectovestibular fistula
23556	PIGN	HP:0010804	Tented upper lip vermilion
23556	PIGN	HP:0200055	Small hand
23556	PIGN	HP:0004969	Peripheral pulmonary artery stenosis
23556	PIGN	HP:0002305	Athetosis
23556	PIGN	HP:0004209	Clinodactyly of the 5th finger
23556	PIGN	HP:0006829	Severe muscular hypotonia
23556	PIGN	HP:0000639	Nystagmus
23556	PIGN	HP:0000646	Amblyopia
23556	PIGN	HP:0011344	Severe global developmental delay
23556	PIGN	HP:0011333	Asymmetric crying face
23556	PIGN	HP:0000664	Synophrys
23556	PIGN	HP:0004397	Ectopic anus
23556	PIGN	HP:0000774	Narrow chest
23556	PIGN	HP:0000776	Congenital diaphragmatic hernia
23556	PIGN	HP:0003196	Short nose
23556	PIGN	HP:0004488	Macrocephaly at birth
23556	PIGN	HP:0100335	Non-midline cleft lip
23556	PIGN	HP:0000813	Bicornuate uterus
23556	PIGN	HP:0010291	Prominent palatine ridges
23556	PIGN	HP:0010282	Thin lower lip vermilion
23556	PIGN	HP:0005830	Flexion contracture of toe
23556	PIGN	HP:0000932	Abnormal posterior cranial fossa morphology
23556	PIGN	HP:0000286	Epicanthus
23556	PIGN	HP:0000280	Coarse facial features
23556	PIGN	HP:0000293	Full cheeks
23556	PIGN	HP:0000256	Macrocephaly
23556	PIGN	HP:0000269	Prominent occiput
23556	PIGN	HP:0000219	Thin upper lip vermilion
23556	PIGN	HP:0000218	High palate
23556	PIGN	HP:0000212	Gingival overgrowth
23556	PIGN	HP:0001561	Polyhydramnios
23556	PIGN	HP:0000233	Thin vermilion border
23556	PIGN	HP:0002867	Abnormal ilium morphology
23556	PIGN	HP:0001539	Omphalocele
23556	PIGN	HP:0001520	Large for gestational age
23556	PIGN	HP:0000378	Cupped ear
23556	PIGN	HP:0000396	Overfolded helix
23556	PIGN	HP:0001615	Hoarse cry
23556	PIGN	HP:0000358	Posteriorly rotated ears
23556	PIGN	HP:0000369	Low-set ears
23556	PIGN	HP:0000368	Low-set, posteriorly rotated ears
23556	PIGN	HP:0000341	Narrow forehead
23556	PIGN	HP:0001671	Abnormal cardiac septum morphology
23556	PIGN	HP:0000343	Long philtrum
23556	PIGN	HP:0000337	Broad forehead
23556	PIGN	HP:0001667	Right ventricular hypertrophy
23556	PIGN	HP:0000350	Small forehead
23556	PIGN	HP:0001679	Abnormal aortic morphology
23556	PIGN	HP:0000347	Micrognathia
23556	PIGN	HP:0012303	Abnormal aortic arch morphology
23556	PIGN	HP:0000319	Smooth philtrum
23556	PIGN	HP:0000316	Hypertelorism
23556	PIGN	HP:0001643	Patent ductus arteriosus
23556	PIGN	HP:0001655	Patent foramen ovale
23556	PIGN	HP:0002951	Partial absence of cerebellar vermis
23556	PIGN	HP:0000308	Microretrognathia
23556	PIGN	HP:0001636	Tetralogy of Fallot
23556	PIGN	HP:0001631	Atrial septal defect
23556	PIGN	HP:0007957	Corneal opacity
23556	PIGN	HP:0006610	Wide intermamillary distance
23556	PIGN	HP:0000498	Blepharitis
23556	PIGN	HP:0005280	Depressed nasal bridge
23556	PIGN	HP:0000486	Strabismus
23556	PIGN	HP:0000463	Anteverted nares
23556	PIGN	HP:0012448	Delayed myelination
23556	PIGN	HP:0000474	Thickened nuchal skin fold
23556	PIGN	HP:0000470	Short neck
23556	PIGN	HP:0001773	Short foot
23556	PIGN	HP:0000431	Wide nasal bridge
23556	PIGN	HP:0001761	Pes cavus
23556	PIGN	HP:0006709	Aplasia/Hypoplasia of the nipples
23556	PIGN	HP:0011271	Prominent tragus
23556	PIGN	HP:0001804	Hypoplastic fingernail
23556	PIGN	HP:0011247	Prominent superior crus of antihelix
23556	PIGN	HP:0000582	Upslanted palpebral fissure
23556	PIGN	HP:0000568	Microphthalmia
23556	PIGN	HP:0000565	Esotropia
23556	PIGN	HP:0001869	Deep plantar creases
23558	WBP2	HP:0000007	Autosomal recessive inheritance
23558	WBP2	HP:0000365	Hearing impairment
23562	CLDN14	HP:0000007	Autosomal recessive inheritance
23562	CLDN14	HP:0003680	Nonprogressive
23562	CLDN14	HP:0000365	Hearing impairment
23562	CLDN14	HP:0000407	Sensorineural hearing impairment
23568	ARL2BP	HP:0001249	Intellectual disability
23568	ARL2BP	HP:0007401	Macular atrophy
23568	ARL2BP	HP:0008736	Hypoplasia of penis
23568	ARL2BP	HP:0001347	Hyperreflexia
23568	ARL2BP	HP:0000035	Abnormal testis morphology
23568	ARL2BP	HP:0000007	Autosomal recessive inheritance
23568	ARL2BP	HP:0000135	Hypogonadism
23568	ARL2BP	HP:0007675	Progressive night blindness
23568	ARL2BP	HP:0007663	Reduced visual acuity
23568	ARL2BP	HP:0031245	Productive cough
23568	ARL2BP	HP:0002719	Recurrent infections
23568	ARL2BP	HP:0005978	Type II diabetes mellitus
23568	ARL2BP	HP:0002110	Bronchiectasis
23568	ARL2BP	HP:0003623	Neonatal onset
23568	ARL2BP	HP:0000639	Nystagmus
23568	ARL2BP	HP:0000648	Optic atrophy
23568	ARL2BP	HP:0000618	Blindness
23568	ARL2BP	HP:0000613	Photophobia
23568	ARL2BP	HP:0000602	Ophthalmoplegia
23568	ARL2BP	HP:0011462	Young adult onset
23568	ARL2BP	HP:0000842	Hyperinsulinemia
23568	ARL2BP	HP:0000987	Atypical scarring of skin
23568	ARL2BP	HP:0033036	Decreased nasal nitric oxide
23568	ARL2BP	HP:0008046	Abnormal retinal vascular morphology
23568	ARL2BP	HP:0007703	Abnormality of retinal pigmentation
23568	ARL2BP	HP:0007787	Posterior subcapsular cataract
23568	ARL2BP	HP:0012207	Reduced sperm motility
23568	ARL2BP	HP:0001513	Obesity
23568	ARL2BP	HP:0001696	Situs inversus totalis
23568	ARL2BP	HP:0000407	Sensorineural hearing impairment
23568	ARL2BP	HP:0000405	Conductive hearing impairment
23568	ARL2BP	HP:0000463	Anteverted nares
23568	ARL2BP	HP:0001742	Nasal congestion
23568	ARL2BP	HP:0000431	Wide nasal bridge
23568	ARL2BP	HP:0000518	Cataract
23568	ARL2BP	HP:0000510	Rod-cone dystrophy
23568	ARL2BP	HP:0000512	Abnormal electroretinogram
23568	ARL2BP	HP:0000505	Visual impairment
23568	ARL2BP	HP:0000501	Glaucoma
23568	ARL2BP	HP:0000563	Keratoconus
23568	ARL2BP	HP:0000543	Optic disc pallor
23581	CASP14	HP:0000007	Autosomal recessive inheritance
23581	CASP14	HP:0040190	White scaling skin
23586	RIGI	HP:0000006	Autosomal dominant inheritance
23586	RIGI	HP:0002650	Scoliosis
23586	RIGI	HP:0000164	Abnormality of the dentition
23586	RIGI	HP:0032153	Joint subluxation
23586	RIGI	HP:0009771	Osteolytic defects of the phalanges of the hand
23586	RIGI	HP:0003621	Juvenile onset
23586	RIGI	HP:0004322	Short stature
23586	RIGI	HP:0004380	Aortic valve calcification
23586	RIGI	HP:0011463	Childhood onset
23586	RIGI	HP:0011462	Young adult onset
23586	RIGI	HP:0000962	Hyperkeratosis
23586	RIGI	HP:0000938	Osteopenia
23586	RIGI	HP:0011675	Arrhythmia
23586	RIGI	HP:0025526	Psoriasiform lesion
23586	RIGI	HP:0001650	Aortic valve stenosis
23586	RIGI	HP:0000501	Glaucoma
23590	PDSS1	HP:0033505	Livedo reticularis
23590	PDSS1	HP:0001284	Areflexia
23590	PDSS1	HP:0001256	Intellectual disability, mild
23590	PDSS1	HP:0000007	Autosomal recessive inheritance
23590	PDSS1	HP:0002092	Pulmonary arterial hypertension
23590	PDSS1	HP:0002151	Increased serum lactate
23590	PDSS1	HP:0100739	Bulimia
23590	PDSS1	HP:0009830	Peripheral neuropathy
23590	PDSS1	HP:0000648	Optic atrophy
23590	PDSS1	HP:0011463	Childhood onset
23590	PDSS1	HP:0000256	Macrocephaly
23590	PDSS1	HP:0032653	Elevated lactate:pyruvate ratio
23590	PDSS1	HP:0025502	Overweight
23590	PDSS1	HP:0001513	Obesity
23590	PDSS1	HP:0000365	Hearing impairment
23590	PDSS1	HP:0001659	Aortic regurgitation
23590	PDSS1	HP:0001653	Mitral regurgitation
23592	LEMD3	HP:0100925	Sclerosis of foot bone
23592	LEMD3	HP:0001159	Syndactyly
23592	LEMD3	HP:0003764	Nevus
23592	LEMD3	HP:0001256	Intellectual disability, mild
23592	LEMD3	HP:0001252	Hypotonia
23592	LEMD3	HP:0001263	Global developmental delay
23592	LEMD3	HP:0002566	Intestinal malrotation
23592	LEMD3	HP:0100898	Connective tissue nevi
23592	LEMD3	HP:0007417	Discoid lupus rash
23592	LEMD3	HP:0031051	Tarsal sclerosis
23592	LEMD3	HP:0000089	Renal hypoplasia
23592	LEMD3	HP:0000083	Renal insufficiency
23592	LEMD3	HP:0000086	Ectopic kidney
23592	LEMD3	HP:0000085	Horseshoe kidney
23592	LEMD3	HP:0000077	Abnormality of the kidney
23592	LEMD3	HP:0001376	Limitation of joint mobility
23592	LEMD3	HP:0001371	Flexion contracture
23592	LEMD3	HP:0001369	Arthritis
23592	LEMD3	HP:0001387	Joint stiffness
23592	LEMD3	HP:0001363	Craniosynostosis
23592	LEMD3	HP:0007513	Generalized hypopigmentation
23592	LEMD3	HP:0007488	Diffuse skin atrophy
23592	LEMD3	HP:0001328	Specific learning disability
23592	LEMD3	HP:0001337	Tremor
23592	LEMD3	HP:0000006	Autosomal dominant inheritance
23592	LEMD3	HP:0002652	Skeletal dysplasia
23592	LEMD3	HP:0002653	Bone pain
23592	LEMD3	HP:0002650	Scoliosis
23592	LEMD3	HP:0000164	Abnormality of the dentition
23592	LEMD3	HP:0000175	Cleft palate
23592	LEMD3	HP:0001474	Sclerotic scapulae
23592	LEMD3	HP:0001482	Subcutaneous nodule
23592	LEMD3	HP:0002757	Recurrent fractures
23592	LEMD3	HP:0002714	Downturned corners of mouth
23592	LEMD3	HP:0003330	Abnormal bone structure
23592	LEMD3	HP:0003326	Myalgia
23592	LEMD3	HP:0002007	Frontal bossing
23592	LEMD3	HP:0100559	Lower limb asymmetry
23592	LEMD3	HP:0003396	Syringomyelia
23592	LEMD3	HP:0030955	Alcoholism
23592	LEMD3	HP:0100569	Abnormally ossified vertebrae
23592	LEMD3	HP:0005930	Abnormal epiphysis morphology
23592	LEMD3	HP:0010554	Cutaneous finger syndactyly
23592	LEMD3	HP:0010562	Keloids
23592	LEMD3	HP:0011849	Abnormal bone ossification
23592	LEMD3	HP:0003577	Congenital onset
23592	LEMD3	HP:0100774	Hyperostosis
23592	LEMD3	HP:0001028	Hemangioma
23592	LEMD3	HP:0001012	Multiple lipomas
23592	LEMD3	HP:0001004	Lymphedema
23592	LEMD3	HP:0200034	Papule
23592	LEMD3	HP:0010816	Epidermal nevus
23592	LEMD3	HP:0032148	Episodic pain
23592	LEMD3	HP:0010739	Osteopoikilosis
23592	LEMD3	HP:0002308	Chiari malformation
23592	LEMD3	HP:0004209	Clinodactyly of the 5th finger
23592	LEMD3	HP:0004289	Sclerotic foci in hand bones
23592	LEMD3	HP:0004240	Sclerotic foci within carpal bones
23592	LEMD3	HP:0000620	Dacryocystitis
23592	LEMD3	HP:0009055	Generalized limb muscle atrophy
23592	LEMD3	HP:0010001	Complete duplication of the distal phalanges of the hand
23592	LEMD3	HP:0011314	Abnormal long bone morphology
23592	LEMD3	HP:0000668	Hypodontia
23592	LEMD3	HP:0000664	Synophrys
23592	LEMD3	HP:0004322	Short stature
23592	LEMD3	HP:0009106	Abnormal pelvis bone ossification
23592	LEMD3	HP:0000750	Delayed speech and language development
23592	LEMD3	HP:0009121	Abnormal axial skeleton morphology
23592	LEMD3	HP:0012758	Neurodevelopmental delay
23592	LEMD3	HP:0003103	Abnormal cortical bone morphology
23592	LEMD3	HP:0005789	Generalized osteosclerosis
23592	LEMD3	HP:0100324	Scleroderma
23592	LEMD3	HP:0000819	Diabetes mellitus
23592	LEMD3	HP:0000818	Abnormality of the endocrine system
23592	LEMD3	HP:0000822	Hypertension
23592	LEMD3	HP:0040068	Abnormality of limb bone
23592	LEMD3	HP:0003202	Skeletal muscle atrophy
23592	LEMD3	HP:0030838	Hip pain
23592	LEMD3	HP:0030840	Ankle pain
23592	LEMD3	HP:0000987	Atypical scarring of skin
23592	LEMD3	HP:0000982	Palmoplantar keratoderma
23592	LEMD3	HP:0000953	Hyperpigmentation of the skin
23592	LEMD3	HP:0000951	Abnormality of the skin
23592	LEMD3	HP:0000944	Abnormal metaphysis morphology
23592	LEMD3	HP:0040163	Abnormal pelvis bone morphology
23592	LEMD3	HP:0002829	Arthralgia
23592	LEMD3	HP:0002823	Abnormality of femur morphology
23592	LEMD3	HP:0000252	Microcephaly
23592	LEMD3	HP:0000233	Thin vermilion border
23592	LEMD3	HP:0001508	Failure to thrive
23592	LEMD3	HP:0001511	Intrauterine growth retardation
23592	LEMD3	HP:0001609	Hoarse voice
23592	LEMD3	HP:0000365	Hearing impairment
23592	LEMD3	HP:0011001	Increased bone mineral density
23592	LEMD3	HP:0001679	Abnormal aortic morphology
23592	LEMD3	HP:0000347	Micrognathia
23592	LEMD3	HP:0000316	Hypertelorism
23592	LEMD3	HP:0000325	Triangular face
23592	LEMD3	HP:0002960	Autoimmunity
23592	LEMD3	HP:0001627	Abnormal heart morphology
23592	LEMD3	HP:0005288	Abnormal nostril morphology
23592	LEMD3	HP:0000486	Strabismus
23592	LEMD3	HP:0000490	Deeply set eye
23592	LEMD3	HP:0000445	Wide nose
23592	LEMD3	HP:0001743	Abnormality of the spleen
23592	LEMD3	HP:0000426	Prominent nasal bridge
23592	LEMD3	HP:0005469	Flat occiput
23592	LEMD3	HP:0000505	Visual impairment
23592	LEMD3	HP:0000574	Thick eyebrow
23594	ORC6	HP:0009939	Mandibular aplasia
23594	ORC6	HP:0009892	Anotia
23594	ORC6	HP:0008551	Microtia
23594	ORC6	HP:0001270	Motor delay
23594	ORC6	HP:0001249	Intellectual disability
23594	ORC6	HP:0001263	Global developmental delay
23594	ORC6	HP:0008736	Hypoplasia of penis
23594	ORC6	HP:0008665	Clitoral hypertrophy
23594	ORC6	HP:0000064	Hypoplastic labia minora
23594	ORC6	HP:0000060	Clitoral hypoplasia
23594	ORC6	HP:0000059	Hypoplastic labia majora
23594	ORC6	HP:0000046	Small scrotum
23594	ORC6	HP:0000039	Epispadias
23594	ORC6	HP:0000054	Micropenis
23594	ORC6	HP:0000047	Hypospadias
23594	ORC6	HP:0001363	Craniosynostosis
23594	ORC6	HP:0000028	Cryptorchidism
23594	ORC6	HP:0001328	Specific learning disability
23594	ORC6	HP:0000007	Autosomal recessive inheritance
23594	ORC6	HP:0000193	Bifid uvula
23594	ORC6	HP:0000160	Narrow mouth
23594	ORC6	HP:0000176	Submucous cleft hard palate
23594	ORC6	HP:0000175	Cleft palate
23594	ORC6	HP:0002705	High, narrow palate
23594	ORC6	HP:0002780	Bronchomalacia
23594	ORC6	HP:0002779	Tracheomalacia
23594	ORC6	HP:0002750	Delayed skeletal maturation
23594	ORC6	HP:0002020	Gastroesophageal reflux
23594	ORC6	HP:0002098	Respiratory distress
23594	ORC6	HP:0002094	Dyspnea
23594	ORC6	HP:0005930	Abnormal epiphysis morphology
23594	ORC6	HP:0100490	Camptodactyly of finger
23594	ORC6	HP:0003577	Congenital onset
23594	ORC6	HP:0002215	Sparse axillary hair
23594	ORC6	HP:0003561	Birth length less than 3rd percentile
23594	ORC6	HP:0002225	Sparse pubic hair
23594	ORC6	HP:0100783	Breast aplasia
23594	ORC6	HP:0011968	Feeding difficulties
23594	ORC6	HP:0003510	Severe short stature
23594	ORC6	HP:0004209	Clinodactyly of the 5th finger
23594	ORC6	HP:0004322	Short stature
23594	ORC6	HP:0003065	Patellar hypoplasia
23594	ORC6	HP:0005692	Joint hyperflexibility
23594	ORC6	HP:0003042	Elbow dislocation
23594	ORC6	HP:0000772	Abnormal rib morphology
23594	ORC6	HP:0000750	Delayed speech and language development
23594	ORC6	HP:0000774	Narrow chest
23594	ORC6	HP:0000773	Short ribs
23594	ORC6	HP:0003100	Slender long bone
23594	ORC6	HP:0003187	Breast hypoplasia
23594	ORC6	HP:0010306	Short thorax
23594	ORC6	HP:0000278	Retrognathia
23594	ORC6	HP:0006443	Patellar aplasia
23594	ORC6	HP:0002812	Coxa vara
23594	ORC6	HP:0000252	Microcephaly
23594	ORC6	HP:0002878	Respiratory failure
23594	ORC6	HP:0001508	Failure to thrive
23594	ORC6	HP:0001511	Intrauterine growth retardation
23594	ORC6	HP:0001510	Growth delay
23594	ORC6	HP:0006532	Recurrent pneumonia
23594	ORC6	HP:0001601	Laryngomalacia
23594	ORC6	HP:0006498	Aplasia/Hypoplasia of the patella
23594	ORC6	HP:0000365	Hearing impairment
23594	ORC6	HP:0000356	Abnormality of the outer ear
23594	ORC6	HP:0000358	Posteriorly rotated ears
23594	ORC6	HP:0000369	Low-set ears
23594	ORC6	HP:0000347	Micrognathia
23594	ORC6	HP:0000327	Hypoplasia of the maxilla
23594	ORC6	HP:0000325	Triangular face
23594	ORC6	HP:0002970	Genu varum
23594	ORC6	HP:0000308	Microretrognathia
23594	ORC6	HP:0006628	Absent sternal ossification
23594	ORC6	HP:0006660	Aplastic clavicle
23594	ORC6	HP:0012471	Thick vermilion border
23594	ORC6	HP:0000494	Downslanted palpebral fissures
23594	ORC6	HP:0000413	Atresia of the external auditory canal
23594	ORC6	HP:0001762	Talipes equinovarus
23594	ORC6	HP:0000426	Prominent nasal bridge
23594	ORC6	HP:0011267	Microtia, third degree
23600	AMACR	HP:0001133	Constriction of peripheral visual field
23600	AMACR	HP:0002401	Stroke-like episode
23600	AMACR	HP:0001298	Encephalopathy
23600	AMACR	HP:0001269	Hemiparesis
23600	AMACR	HP:0001268	Mental deterioration
23600	AMACR	HP:0001250	Seizure
23600	AMACR	HP:0001251	Ataxia
23600	AMACR	HP:0001260	Dysarthria
23600	AMACR	HP:0001257	Spasticity
23600	AMACR	HP:0002573	Hematochezia
23600	AMACR	HP:0007359	Focal-onset seizure
23600	AMACR	HP:0033643	Increased circulating very long-chain fatty acid concentration
23600	AMACR	HP:0001399	Hepatic failure
23600	AMACR	HP:0001392	Abnormality of the liver
23600	AMACR	HP:0012053	Decreased circulating calcifediol concentration
23600	AMACR	HP:0001347	Hyperreflexia
23600	AMACR	HP:0001328	Specific learning disability
23600	AMACR	HP:0000007	Autosomal recessive inheritance
23600	AMACR	HP:0001337	Tremor
23600	AMACR	HP:0002611	Cholestatic liver disease
23600	AMACR	HP:0002630	Fat malabsorption
23600	AMACR	HP:0000135	Hypogonadism
23600	AMACR	HP:0001406	Intrahepatic cholestasis
23600	AMACR	HP:0030985	Decreased serum bile acid concentration
23600	AMACR	HP:0005978	Type II diabetes mellitus
23600	AMACR	HP:0002080	Intention tremor
23600	AMACR	HP:0002076	Migraine
23600	AMACR	HP:0100513	Low levels of vitamin E
23600	AMACR	HP:0034449	Increased phytanic acid:pristanic acid ratio
23600	AMACR	HP:0008151	Prolonged prothrombin time
23600	AMACR	HP:0002133	Status epilepticus
23600	AMACR	HP:0010571	Elevated circulating phytanic acid concentration
23600	AMACR	HP:0011892	Low levels of vitamin K
23600	AMACR	HP:0002240	Hepatomegaly
23600	AMACR	HP:0100753	Schizophrenia
23600	AMACR	HP:0200084	Giant cell hepatitis
23600	AMACR	HP:0002354	Memory impairment
23600	AMACR	HP:0003645	Prolonged partial thromboplastin time
23600	AMACR	HP:0001081	Cholelithiasis
23600	AMACR	HP:0007141	Sensorimotor neuropathy
23600	AMACR	HP:0003623	Neonatal onset
23600	AMACR	HP:0030516	Homonymous hemianopia
23600	AMACR	HP:0031956	Elevated circulating aspartate aminotransferase concentration
23600	AMACR	HP:0000763	Sensory neuropathy
23600	AMACR	HP:0000716	Depression
23600	AMACR	HP:0011462	Young adult onset
23600	AMACR	HP:0000815	Hypergonadotropic hypogonadism
23600	AMACR	HP:0003236	Elevated circulating creatine kinase concentration
23600	AMACR	HP:0003201	Rhabdomyolysis
23600	AMACR	HP:0001508	Failure to thrive
23600	AMACR	HP:0012379	Abnormal circulating enzyme concentration or activity
23600	AMACR	HP:0006579	Prolonged neonatal jaundice
23600	AMACR	HP:0002910	Elevated hepatic transaminase
23600	AMACR	HP:0002904	Hyperbilirubinemia
23600	AMACR	HP:0000518	Cataract
23600	AMACR	HP:0000510	Rod-cone dystrophy
23600	AMACR	HP:0000505	Visual impairment
23600	AMACR	HP:0000580	Pigmentary retinopathy
23607	CD2AP	HP:0003774	Stage 5 chronic kidney disease
23607	CD2AP	HP:0002586	Peritonitis
23607	CD2AP	HP:0000083	Renal insufficiency
23607	CD2AP	HP:0000097	Focal segmental glomerulosclerosis
23607	CD2AP	HP:0000093	Proteinuria
23607	CD2AP	HP:0002027	Abdominal pain
23607	CD2AP	HP:0100539	Periorbital edema
23607	CD2AP	HP:0011947	Respiratory tract infection
23607	CD2AP	HP:0002315	Headache
23607	CD2AP	HP:0012622	Chronic kidney disease
23607	CD2AP	HP:0001967	Diffuse mesangial sclerosis
23607	CD2AP	HP:0001945	Fever
23607	CD2AP	HP:0003073	Hypoalbuminemia
23607	CD2AP	HP:0000737	Irritability
23607	CD2AP	HP:0000707	Abnormality of the nervous system
23607	CD2AP	HP:0000790	Hematuria
23607	CD2AP	HP:0000822	Hypertension
23607	CD2AP	HP:0000969	Edema
23607	CD2AP	HP:0031504	Foamy urine
23607	CD2AP	HP:0012579	Minimal change glomerulonephritis
23630	KCNE5	HP:0001182	Tapered finger
23630	KCNE5	HP:0010864	Intellectual disability, severe
23630	KCNE5	HP:0100820	Glomerulopathy
23630	KCNE5	HP:0001279	Syncope
23630	KCNE5	HP:0001252	Hypotonia
23630	KCNE5	HP:0000083	Renal insufficiency
23630	KCNE5	HP:0000093	Proteinuria
23630	KCNE5	HP:0011715	Trifascicular block
23630	KCNE5	HP:0011712	Right bundle branch block
23630	KCNE5	HP:0011704	Sick sinus syndrome
23630	KCNE5	HP:0011705	First degree atrioventricular block
23630	KCNE5	HP:0004755	Supraventricular tachycardia
23630	KCNE5	HP:0004751	Paroxysmal ventricular tachycardia
23630	KCNE5	HP:0004308	Ventricular arrhythmia
23630	KCNE5	HP:0004445	Elliptocytosis
23630	KCNE5	HP:0000944	Abnormal metaphysis morphology
23630	KCNE5	HP:0001595	Abnormal hair morphology
23630	KCNE5	HP:0012251	ST segment elevation
23630	KCNE5	HP:0000272	Malar flattening
23630	KCNE5	HP:0000233	Thin vermilion border
23630	KCNE5	HP:0011069	Supernumerary tooth
23630	KCNE5	HP:0002907	Microscopic hematuria
23630	KCNE5	HP:0000365	Hearing impairment
23630	KCNE5	HP:0001695	Cardiac arrest
23630	KCNE5	HP:0001646	Abnormal aortic valve morphology
23630	KCNE5	HP:0001649	Tachycardia
23630	KCNE5	HP:0001643	Patent ductus arteriosus
23630	KCNE5	HP:0001663	Ventricular fibrillation
23630	KCNE5	HP:0005280	Depressed nasal bridge
23630	KCNE5	HP:0000486	Strabismus
23630	KCNE5	HP:0012471	Thick vermilion border
23630	KCNE5	HP:0000494	Downslanted palpebral fissures
23630	KCNE5	HP:0000463	Anteverted nares
23630	KCNE5	HP:0000545	Myopia
23636	NUP62	HP:0002446	Astrocytosis
23636	NUP62	HP:0007281	Developmental stagnation
23636	NUP62	HP:0001276	Hypertonia
23636	NUP62	HP:0001288	Gait disturbance
23636	NUP62	HP:0001285	Spastic tetraparesis
23636	NUP62	HP:0001256	Intellectual disability, mild
23636	NUP62	HP:0001251	Ataxia
23636	NUP62	HP:0001249	Intellectual disability
23636	NUP62	HP:0001266	Choreoathetosis
23636	NUP62	HP:0001260	Dysarthria
23636	NUP62	HP:0001257	Spasticity
23636	NUP62	HP:0007374	Atrophy/Degeneration involving the caudate nucleus
23636	NUP62	HP:0007340	Lower limb muscle weakness
23636	NUP62	HP:0002505	Loss of ambulation
23636	NUP62	HP:0012043	Pendular nystagmus
23636	NUP62	HP:0001347	Hyperreflexia
23636	NUP62	HP:0001332	Dystonia
23636	NUP62	HP:0000007	Autosomal recessive inheritance
23636	NUP62	HP:0001336	Myoclonus
23636	NUP62	HP:0007688	Undetectable light- and dark-adapted electroretinogram
23636	NUP62	HP:0008947	Infantile muscular hypotonia
23636	NUP62	HP:0002020	Gastroesophageal reflux
23636	NUP62	HP:0002015	Dysphagia
23636	NUP62	HP:0002066	Gait ataxia
23636	NUP62	HP:0002063	Rigidity
23636	NUP62	HP:0003487	Babinski sign
23636	NUP62	HP:0003484	Upper limb muscle weakness
23636	NUP62	HP:0002167	Abnormality of speech or vocalization
23636	NUP62	HP:0003593	Infantile onset
23636	NUP62	HP:0002273	Tetraparesis
23636	NUP62	HP:0002396	Cogwheel rigidity
23636	NUP62	HP:0002359	Frequent falls
23636	NUP62	HP:0002376	Developmental regression
23636	NUP62	HP:0000648	Optic atrophy
23636	NUP62	HP:0012697	Small basal ganglia
23636	NUP62	HP:0006999	Basal ganglia gliosis
23636	NUP62	HP:0000750	Delayed speech and language development
23636	NUP62	HP:0011463	Childhood onset
23636	NUP62	HP:0012758	Neurodevelopmental delay
23636	NUP62	HP:0001508	Failure to thrive
23636	NUP62	HP:0007811	Horizontal pendular nystagmus
23636	NUP62	HP:0006799	Basal ganglia cysts
23639	DNAAF11	HP:0025177	Peribronchovascular interstitial thickening
23639	DNAAF11	HP:0002566	Intestinal malrotation
23639	DNAAF11	HP:0001217	Clubbing
23639	DNAAF11	HP:0000007	Autosomal recessive inheritance
23639	DNAAF11	HP:0002643	Neonatal respiratory distress
23639	DNAAF11	HP:0000119	Abnormality of the genitourinary system
23639	DNAAF11	HP:0032543	Lithoptysis
23639	DNAAF11	HP:0031245	Productive cough
23639	DNAAF11	HP:0002011	Morphological central nervous system abnormality
23639	DNAAF11	HP:0100582	Nasal polyposis
23639	DNAAF11	HP:0002119	Ventriculomegaly
23639	DNAAF11	HP:0002110	Bronchiectasis
23639	DNAAF11	HP:0008222	Female infertility
23639	DNAAF11	HP:0002257	Chronic rhinitis
23639	DNAAF11	HP:0002205	Recurrent respiratory infections
23639	DNAAF11	HP:0100750	Atelectasis
23639	DNAAF11	HP:0032016	Abnormal sputum
23639	DNAAF11	HP:0011947	Respiratory tract infection
23639	DNAAF11	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
23639	DNAAF11	HP:0010772	Anomalous pulmonary venous return
23639	DNAAF11	HP:0030680	Abnormality of cardiovascular system morphology
23639	DNAAF11	HP:0000750	Delayed speech and language development
23639	DNAAF11	HP:0000924	Abnormality of the skeletal system
23639	DNAAF11	HP:0004469	Chronic bronchitis
23639	DNAAF11	HP:0011539	Atrial situs ambiguous
23639	DNAAF11	HP:0011535	Abnormal atrial arrangement
23639	DNAAF11	HP:0030828	Wheezing
23639	DNAAF11	HP:0003251	Male infertility
23639	DNAAF11	HP:0011617	Pulmonary situs ambiguus
23639	DNAAF11	HP:0025576	Abnormal inferior vena cava morphology
23639	DNAAF11	HP:0012259	Absent inner and outer dynein arms
23639	DNAAF11	HP:0012265	Ciliary dyskinesia
23639	DNAAF11	HP:0012263	Immotile cilia
23639	DNAAF11	HP:0000238	Hydrocephalus
23639	DNAAF11	HP:0012206	Abnormal sperm motility
23639	DNAAF11	HP:0002878	Respiratory failure
23639	DNAAF11	HP:0012384	Rhinitis
23639	DNAAF11	HP:0000389	Chronic otitis media
23639	DNAAF11	HP:0006536	Airway obstruction
23639	DNAAF11	HP:0001696	Situs inversus totalis
23639	DNAAF11	HP:0000365	Hearing impairment
23639	DNAAF11	HP:0001669	Transposition of the great arteries
23639	DNAAF11	HP:0031456	Ectopic pregnancy
23639	DNAAF11	HP:0001627	Abnormal heart morphology
23639	DNAAF11	HP:0005301	Persistent left superior vena cava
23639	DNAAF11	HP:0000403	Recurrent otitis media
23639	DNAAF11	HP:0000405	Conductive hearing impairment
23639	DNAAF11	HP:0001719	Double outlet right ventricle
23639	DNAAF11	HP:0011109	Chronic sinusitis
23639	DNAAF11	HP:0011108	Recurrent sinusitis
23639	DNAAF11	HP:0001746	Asplenia
23639	DNAAF11	HP:0001748	Polysplenia
23639	DNAAF11	HP:0001742	Nasal congestion
23639	DNAAF11	HP:0005425	Recurrent sinopulmonary infections
23639	DNAAF11	HP:0011274	Recurrent mycobacterial infections
23639	DNAAF11	HP:0000510	Rod-cone dystrophy
23646	PLD3	HP:0002403	Positive Romberg sign
23646	PLD3	HP:0001272	Cerebellar atrophy
23646	PLD3	HP:0001260	Dysarthria
23646	PLD3	HP:0000006	Autosomal dominant inheritance
23646	PLD3	HP:0001310	Dysmetria
23646	PLD3	HP:0002066	Gait ataxia
23646	PLD3	HP:0003390	Sensory axonal neuropathy
23646	PLD3	HP:0002070	Limb ataxia
23646	PLD3	HP:0003581	Adult onset
23646	PLD3	HP:0003677	Slowly progressive
23646	PLD3	HP:0000639	Nystagmus
23646	PLD3	HP:0008003	Jerky ocular pursuit movements
23646	PLD3	HP:0000514	Slow saccadic eye movements
23676	SMPX	HP:0003805	Rimmed vacuoles
23676	SMPX	HP:0008994	Proximal muscle weakness in lower limbs
23676	SMPX	HP:0008997	Proximal muscle weakness in upper limbs
23676	SMPX	HP:0008959	Distal upper limb muscle weakness
23676	SMPX	HP:0001423	X-linked dominant inheritance
23676	SMPX	HP:0001419	X-linked recessive inheritance
23676	SMPX	HP:0002747	Respiratory insufficiency due to muscle weakness
23676	SMPX	HP:0003596	Middle age onset
23676	SMPX	HP:0003557	Increased variability in muscle fiber diameter
23676	SMPX	HP:0003691	Scapular winging
23676	SMPX	HP:0003687	Centrally nucleated skeletal muscle fibers
23676	SMPX	HP:0009053	Distal lower limb muscle weakness
23676	SMPX	HP:0011463	Childhood onset
23676	SMPX	HP:0011462	Young adult onset
23676	SMPX	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies
23676	SMPX	HP:0005101	High-frequency hearing impairment
23676	SMPX	HP:0031318	Myofiber disarray
23676	SMPX	HP:0000365	Hearing impairment
23676	SMPX	HP:0001638	Cardiomyopathy
23676	SMPX	HP:0000407	Sensorineural hearing impairment
23676	SMPX	HP:0000518	Cataract
23676	SMPX	HP:0012548	Fatty replacement of skeletal muscle
23729	SHPK	HP:0025157	Increased urinary sedoheptulose
23729	SHPK	HP:0002570	Steatorrhea
23729	SHPK	HP:0100886	Abnormality of globe location
23729	SHPK	HP:0000083	Renal insufficiency
23729	SHPK	HP:0000091	Abnormal renal tubule morphology
23729	SHPK	HP:0001396	Cholestasis
23729	SHPK	HP:0001371	Flexion contracture
23729	SHPK	HP:0001385	Hip dysplasia
23729	SHPK	HP:0000023	Inguinal hernia
23729	SHPK	HP:0008850	Severe postnatal growth retardation
23729	SHPK	HP:0000007	Autosomal recessive inheritance
23729	SHPK	HP:0002611	Cholestatic liver disease
23729	SHPK	HP:0012157	Subcortical cerebral atrophy
23729	SHPK	HP:0012115	Hepatitis
23729	SHPK	HP:0001409	Portal hypertension
23729	SHPK	HP:0002119	Ventriculomegaly
23729	SHPK	HP:0011998	Postprandial hyperglycemia
23729	SHPK	HP:0004840	Hypochromic microcytic anemia
23729	SHPK	HP:0000601	Hypotelorism
23729	SHPK	HP:0001903	Anemia
23729	SHPK	HP:0004322	Short stature
23729	SHPK	HP:0011400	Abnormal CNS myelination
23729	SHPK	HP:0012768	Neonatal asphyxia
23729	SHPK	HP:0000256	Macrocephaly
23729	SHPK	HP:0002804	Arthrogryposis multiplex congenita
23729	SHPK	HP:0000239	Large fontanelles
23729	SHPK	HP:0001540	Diastasis recti
23729	SHPK	HP:0000348	High forehead
23729	SHPK	HP:0001623	Breech presentation
23729	SHPK	HP:0000586	Shallow orbits
23732	FRRS1L	HP:0002487	Hyperkinetic movements
23732	FRRS1L	HP:0007270	Atypical absence seizure
23732	FRRS1L	HP:0010864	Intellectual disability, severe
23732	FRRS1L	HP:0001272	Cerebellar atrophy
23732	FRRS1L	HP:0001288	Gait disturbance
23732	FRRS1L	HP:0001250	Seizure
23732	FRRS1L	HP:0001252	Hypotonia
23732	FRRS1L	HP:0001249	Intellectual disability
23732	FRRS1L	HP:0001266	Choreoathetosis
23732	FRRS1L	HP:0001263	Global developmental delay
23732	FRRS1L	HP:0001257	Spasticity
23732	FRRS1L	HP:0007359	Focal-onset seizure
23732	FRRS1L	HP:0012010	EEG with frontal focal spike waves
23732	FRRS1L	HP:0001345	Psychotic mentation
23732	FRRS1L	HP:0012001	EEG with generalized polyspikes
23732	FRRS1L	HP:0031165	Multifocal seizures
23732	FRRS1L	HP:0001332	Dystonia
23732	FRRS1L	HP:0001344	Absent speech
23732	FRRS1L	HP:0000007	Autosomal recessive inheritance
23732	FRRS1L	HP:0001336	Myoclonus
23732	FRRS1L	HP:0100543	Cognitive impairment
23732	FRRS1L	HP:0002069	Bilateral tonic-clonic seizure
23732	FRRS1L	HP:0002063	Rigidity
23732	FRRS1L	HP:0002072	Chorea
23732	FRRS1L	HP:0002059	Cerebral atrophy
23732	FRRS1L	HP:0002266	Focal clonic seizure
23732	FRRS1L	HP:0003593	Infantile onset
23732	FRRS1L	HP:0200134	Epileptic encephalopathy
23732	FRRS1L	HP:0002384	Focal impaired awareness seizure
23732	FRRS1L	HP:0002381	Aphasia
23732	FRRS1L	HP:0002396	Cogwheel rigidity
23732	FRRS1L	HP:0002375	Hypokinesia
23732	FRRS1L	HP:0002376	Developmental regression
23732	FRRS1L	HP:0002349	Focal aware seizure
23732	FRRS1L	HP:0002333	Motor deterioration
23732	FRRS1L	HP:0010819	Atonic seizure
23732	FRRS1L	HP:0002312	Clumsiness
23732	FRRS1L	HP:0006813	Focal hemiclonic seizure
23732	FRRS1L	HP:0009088	Speech articulation difficulties
23732	FRRS1L	HP:0000639	Nystagmus
23732	FRRS1L	HP:0000718	Aggressive behavior
23732	FRRS1L	HP:0000729	Autistic behavior
23732	FRRS1L	HP:0011463	Childhood onset
23732	FRRS1L	HP:0011098	Speech apraxia
23732	FRRS1L	HP:0031491	Continuous spike and waves during slow sleep
23732	FRRS1L	HP:0011182	Interictal epileptiform activity
23732	FRRS1L	HP:0011147	Typical absence seizure
23732	FRRS1L	HP:0011150	Myoclonic absence seizure
23732	FRRS1L	HP:0011153	Focal motor seizure
23732	FRRS1L	HP:0012557	EEG with centrotemporal focal spike waves
23742	NPAP1	HP:0001159	Syndactyly
23742	NPAP1	HP:0007328	Impaired pain sensation
23742	NPAP1	HP:0003745	Sporadic
23742	NPAP1	HP:0001290	Generalized hypotonia
23742	NPAP1	HP:0001270	Motor delay
23742	NPAP1	HP:0001250	Seizure
23742	NPAP1	HP:0001249	Intellectual disability
23742	NPAP1	HP:0002591	Polyphagia
23742	NPAP1	HP:0001263	Global developmental delay
23742	NPAP1	HP:0000064	Hypoplastic labia minora
23742	NPAP1	HP:0000060	Clitoral hypoplasia
23742	NPAP1	HP:0000044	Hypogonadotropic hypogonadism
23742	NPAP1	HP:0000046	Small scrotum
23742	NPAP1	HP:0000054	Micropenis
23742	NPAP1	HP:0001385	Hip dysplasia
23742	NPAP1	HP:0000028	Cryptorchidism
23742	NPAP1	HP:0008872	Feeding difficulties in infancy
23742	NPAP1	HP:0007513	Generalized hypopigmentation
23742	NPAP1	HP:0001328	Specific learning disability
23742	NPAP1	HP:0000006	Autosomal dominant inheritance
23742	NPAP1	HP:0002650	Scoliosis
23742	NPAP1	HP:0001319	Neonatal hypotonia
23742	NPAP1	HP:0002791	Hypoventilation
23742	NPAP1	HP:0002714	Downturned corners of mouth
23742	NPAP1	HP:0002033	Poor suck
23742	NPAP1	HP:0005968	Temperature instability
23742	NPAP1	HP:0005978	Type II diabetes mellitus
23742	NPAP1	HP:0030919	Low 5-minute APGAR score
23742	NPAP1	HP:0030918	Low 1-minute APGAR score
23742	NPAP1	HP:0009466	Radial deviation of finger
23742	NPAP1	HP:0002119	Ventriculomegaly
23742	NPAP1	HP:0010535	Sleep apnea
23742	NPAP1	HP:0003577	Congenital onset
23742	NPAP1	HP:0002236	Frontal upsweep of hair
23742	NPAP1	HP:0100716	Self-injurious behavior
23742	NPAP1	HP:0002205	Recurrent respiratory infections
23742	NPAP1	HP:0007010	Poor fine motor coordination
23742	NPAP1	HP:0007015	Poor gross motor coordination
23742	NPAP1	HP:0007018	Attention deficit hyperactivity disorder
23742	NPAP1	HP:0002360	Sleep disturbance
23742	NPAP1	HP:0001010	Hypopigmentation of the skin
23742	NPAP1	HP:0200055	Small hand
23742	NPAP1	HP:0033454	Tube feeding
23742	NPAP1	HP:0031878	Acromicria
23742	NPAP1	HP:0004283	Narrow palm
23742	NPAP1	HP:0005599	Hypopigmentation of hair
23742	NPAP1	HP:0004279	Short palm
23742	NPAP1	HP:0000670	Carious teeth
23742	NPAP1	HP:0004322	Short stature
23742	NPAP1	HP:0012743	Abdominal obesity
23742	NPAP1	HP:0000750	Delayed speech and language development
23742	NPAP1	HP:0000717	Autism
23742	NPAP1	HP:0000709	Psychosis
23742	NPAP1	HP:0011461	Fetal onset
23742	NPAP1	HP:0000789	Infertility
23742	NPAP1	HP:0000786	Primary amenorrhea
23742	NPAP1	HP:0003199	Decreased muscle mass
23742	NPAP1	HP:0000876	Oligomenorrhea
23742	NPAP1	HP:0000846	Adrenal insufficiency
23742	NPAP1	HP:0000842	Hyperinsulinemia
23742	NPAP1	HP:0000826	Precocious puberty
23742	NPAP1	HP:0000824	Decreased response to growth hormone stimulation test
23742	NPAP1	HP:0000823	Delayed puberty
23742	NPAP1	HP:0003241	External genital hypoplasia
23742	NPAP1	HP:0000992	Cutaneous photosensitivity
23742	NPAP1	HP:0000939	Osteoporosis
23742	NPAP1	HP:0000938	Osteopenia
23742	NPAP1	HP:0000268	Dolichocephaly
23742	NPAP1	HP:0007730	Iris hypopigmentation
23742	NPAP1	HP:0030084	Clinodactyly
23742	NPAP1	HP:0002808	Kyphosis
23742	NPAP1	HP:0000219	Thin upper lip vermilion
23742	NPAP1	HP:0001562	Oligohydramnios
23742	NPAP1	HP:0001561	Polyhydramnios
23742	NPAP1	HP:0001558	Decreased fetal movement
23742	NPAP1	HP:0001531	Failure to thrive in infancy
23742	NPAP1	HP:0002857	Genu valgum
23742	NPAP1	HP:0001511	Intrauterine growth retardation
23742	NPAP1	HP:0001513	Obesity
23742	NPAP1	HP:0007874	Almond-shaped palpebral fissure
23742	NPAP1	HP:0000341	Narrow forehead
23742	NPAP1	HP:0001623	Breech presentation
23742	NPAP1	HP:0000486	Strabismus
23742	NPAP1	HP:0001773	Short foot
23742	NPAP1	HP:0000446	Narrow nasal bridge
23742	NPAP1	HP:0000582	Upslanted palpebral fissure
23742	NPAP1	HP:0000565	Esotropia
23742	NPAP1	HP:0000540	Hypermetropia
23742	NPAP1	HP:0000545	Myopia
23746	AIPL1	HP:0001133	Constriction of peripheral visual field
23746	AIPL1	HP:0001141	Severely reduced visual acuity
23746	AIPL1	HP:0001250	Seizure
23746	AIPL1	HP:0001252	Hypotonia
23746	AIPL1	HP:0001249	Intellectual disability
23746	AIPL1	HP:0001263	Global developmental delay
23746	AIPL1	HP:0007401	Macular atrophy
23746	AIPL1	HP:0012043	Pendular nystagmus
23746	AIPL1	HP:0000007	Autosomal recessive inheritance
23746	AIPL1	HP:0000006	Autosomal dominant inheritance
23746	AIPL1	HP:0007688	Undetectable light- and dark-adapted electroretinogram
23746	AIPL1	HP:0007663	Reduced visual acuity
23746	AIPL1	HP:0001419	X-linked recessive inheritance
23746	AIPL1	HP:0002084	Encephalocele
23746	AIPL1	HP:0002269	Abnormality of neuronal migration
23746	AIPL1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
23746	AIPL1	HP:0000639	Nystagmus
23746	AIPL1	HP:0000618	Blindness
23746	AIPL1	HP:0000613	Photophobia
23746	AIPL1	HP:0000662	Nyctalopia
23746	AIPL1	HP:0004374	Hemiplegia/hemiparesis
23746	AIPL1	HP:0012795	Abnormal optic disc morphology
23746	AIPL1	HP:0007703	Abnormality of retinal pigmentation
23746	AIPL1	HP:0007843	Attenuation of retinal blood vessels
23746	AIPL1	HP:0000365	Hearing impairment
23746	AIPL1	HP:0031605	Abnormality of fundus pigmentation
23746	AIPL1	HP:0000518	Cataract
23746	AIPL1	HP:0000510	Rod-cone dystrophy
23746	AIPL1	HP:0000512	Abnormal electroretinogram
23746	AIPL1	HP:0000505	Visual impairment
23746	AIPL1	HP:0000563	Keratoconus
23746	AIPL1	HP:0000551	Color vision defect
23746	AIPL1	HP:0000548	Cone/cone-rod dystrophy
23746	AIPL1	HP:0000543	Optic disc pallor
23761	PISD	HP:0001249	Intellectual disability
23761	PISD	HP:0001263	Global developmental delay
23761	PISD	HP:0002663	Delayed epiphyseal ossification
23761	PISD	HP:0000007	Autosomal recessive inheritance
23761	PISD	HP:0002650	Scoliosis
23761	PISD	HP:0004322	Short stature
23761	PISD	HP:0007737	Bone spicule pigmentation of the retina
23761	PISD	HP:0000252	Microcephaly
23761	PISD	HP:0031367	Metaphyseal striations
23761	PISD	HP:0007814	Retinal pigment epithelial mottling
23761	PISD	HP:0000407	Sensorineural hearing impairment
23761	PISD	HP:0000546	Retinal degeneration
23761	PISD	HP:0000543	Optic disc pallor
23765	IL17RA	HP:0100825	Cheilitis
23765	IL17RA	HP:0001250	Seizure
23765	IL17RA	HP:0001231	Abnormal fingernail morphology
23765	IL17RA	HP:0033605	Pustular rash
23765	IL17RA	HP:0008872	Feeding difficulties in infancy
23765	IL17RA	HP:0000010	Recurrent urinary tract infections
23765	IL17RA	HP:0000007	Autosomal recessive inheritance
23765	IL17RA	HP:0000159	Abnormal lip morphology
23765	IL17RA	HP:0000142	Abnormal vagina morphology
23765	IL17RA	HP:0000153	Abnormality of the mouth
23765	IL17RA	HP:0012115	Hepatitis
23765	IL17RA	HP:0031292	Cutaneous abscess
23765	IL17RA	HP:0002719	Recurrent infections
23765	IL17RA	HP:0002715	Abnormality of the immune system
23765	IL17RA	HP:0002728	Chronic mucocutaneous candidiasis
23765	IL17RA	HP:0002726	Recurrent Staphylococcus aureus infections
23765	IL17RA	HP:0002090	Pneumonia
23765	IL17RA	HP:0002105	Hemoptysis
23765	IL17RA	HP:0002205	Recurrent respiratory infections
23765	IL17RA	HP:0008388	Abnormal toenail morphology
23765	IL17RA	HP:0200034	Papule
23765	IL17RA	HP:0025084	Folliculitis
23765	IL17RA	HP:0200039	Pustule
23765	IL17RA	HP:0200042	Skin ulcer
23765	IL17RA	HP:0010783	Erythema
23765	IL17RA	HP:0009098	Chronic oral candidiasis
23765	IL17RA	HP:0011370	Recurrent cutaneous fungal infections
23765	IL17RA	HP:0000682	Abnormal dental enamel morphology
23765	IL17RA	HP:0004332	Abnormal lymphocyte morphology
23765	IL17RA	HP:0004306	Abnormal endocardium morphology
23765	IL17RA	HP:0004370	Abnormality of temperature regulation
23765	IL17RA	HP:0012735	Cough
23765	IL17RA	HP:0000790	Hematuria
23765	IL17RA	HP:0000989	Pruritus
23765	IL17RA	HP:0000988	Skin rash
23765	IL17RA	HP:0000951	Abnormality of the skin
23765	IL17RA	HP:0000964	Eczema
23765	IL17RA	HP:0000962	Hyperkeratosis
23765	IL17RA	HP:0001597	Abnormality of the nail
23765	IL17RA	HP:0031409	Abnormal lymphocyte physiology
23765	IL17RA	HP:0001581	Recurrent skin infections
23765	IL17RA	HP:0030016	Dyspareunia
23765	IL17RA	HP:0002837	Recurrent bronchitis
23765	IL17RA	HP:0000403	Recurrent otitis media
23765	IL17RA	HP:0000478	Abnormality of the eye
23765	IL17RA	HP:0011132	Chronic furunculosis
23765	IL17RA	HP:0011108	Recurrent sinusitis
23765	IL17RA	HP:0001821	Broad nail
23765	IL17RA	HP:0000504	Abnormality of vision
23767	FLRT3	HP:0001288	Gait disturbance
23767	FLRT3	HP:0001250	Seizure
23767	FLRT3	HP:0001252	Hypotonia
23767	FLRT3	HP:0001251	Ataxia
23767	FLRT3	HP:0001260	Dysarthria
23767	FLRT3	HP:0008734	Decreased testicular size
23767	FLRT3	HP:0008736	Hypoplasia of penis
23767	FLRT3	HP:0010983	Oligogenic inheritance
23767	FLRT3	HP:0000044	Hypogonadotropic hypogonadism
23767	FLRT3	HP:0000054	Micropenis
23767	FLRT3	HP:0000028	Cryptorchidism
23767	FLRT3	HP:0001324	Muscle weakness
23767	FLRT3	HP:0000008	Abnormal morphology of female internal genitalia
23767	FLRT3	HP:0001335	Bimanual synkinesia
23767	FLRT3	HP:0001337	Tremor
23767	FLRT3	HP:0000006	Autosomal dominant inheritance
23767	FLRT3	HP:0002652	Skeletal dysplasia
23767	FLRT3	HP:0000175	Cleft palate
23767	FLRT3	HP:0000144	Decreased fertility
23767	FLRT3	HP:0410030	Cleft lip
23767	FLRT3	HP:0002757	Recurrent fractures
23767	FLRT3	HP:0000104	Renal agenesis
23767	FLRT3	HP:0002750	Delayed skeletal maturation
23767	FLRT3	HP:0010550	Paraplegia
23767	FLRT3	HP:0009804	Tooth agenesis
23767	FLRT3	HP:0100639	Erectile dysfunction
23767	FLRT3	HP:0003621	Juvenile onset
23767	FLRT3	HP:0000639	Nystagmus
23767	FLRT3	HP:0030680	Abnormality of cardiovascular system morphology
23767	FLRT3	HP:0004349	Reduced bone mineral density
23767	FLRT3	HP:0000771	Gynecomastia
23767	FLRT3	HP:0000786	Primary amenorrhea
23767	FLRT3	HP:0004409	Hyposmia
23767	FLRT3	HP:0003187	Breast hypoplasia
23767	FLRT3	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
23767	FLRT3	HP:0000830	Anterior hypopituitarism
23767	FLRT3	HP:0000823	Delayed puberty
23767	FLRT3	HP:0000939	Osteoporosis
23767	FLRT3	HP:0000938	Osteopenia
23767	FLRT3	HP:0008064	Ichthyosis
23767	FLRT3	HP:0030016	Dyspareunia
23767	FLRT3	HP:0001513	Obesity
23767	FLRT3	HP:0001608	Abnormality of the voice
23767	FLRT3	HP:0000365	Hearing impairment
23767	FLRT3	HP:0000407	Sensorineural hearing impairment
23767	FLRT3	HP:0000458	Anosmia
23767	FLRT3	HP:0001763	Pes planus
23767	FLRT3	HP:0001761	Pes cavus
23767	FLRT3	HP:0000508	Ptosis
23767	FLRT3	HP:0000505	Visual impairment
23767	FLRT3	HP:0000551	Color vision defect
23769	FLRT1	HP:0001260	Dysarthria
23769	FLRT1	HP:0002650	Scoliosis
23769	FLRT1	HP:0002600	Hyporeflexia of lower limbs
23769	FLRT1	HP:0008944	Distal lower limb amyotrophy
23769	FLRT1	HP:0002071	Abnormality of extrapyramidal motor function
23769	FLRT1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
23769	FLRT1	HP:0003477	Peripheral axonal neuropathy
23769	FLRT1	HP:0002194	Delayed gross motor development
23769	FLRT1	HP:0002166	Impaired vibration sensation in the lower limbs
23769	FLRT1	HP:0002267	Exaggerated startle response
23769	FLRT1	HP:0007020	Progressive spastic paraplegia
23769	FLRT1	HP:0007054	Proximal hyperreflexia
23769	FLRT1	HP:0003693	Distal amyotrophy
23769	FLRT1	HP:0002355	Difficulty walking
23769	FLRT1	HP:0000639	Nystagmus
23769	FLRT1	HP:0000648	Optic atrophy
23769	FLRT1	HP:0000975	Hyperhidrosis
23769	FLRT1	HP:0002828	Multiple joint contractures
23769	FLRT1	HP:0001761	Pes cavus
23769	FLRT1	HP:0000543	Optic disc pallor
23780	APOL2	HP:0410291	Negativism
23780	APOL2	HP:0000006	Autosomal dominant inheritance
23780	APOL2	HP:0100753	Schizophrenia
23780	APOL2	HP:0007086	Social and occupational deterioration
23780	APOL2	HP:0002353	EEG abnormality
23780	APOL2	HP:0000738	Hallucinations
23780	APOL2	HP:0000746	Delusions
24137	KIF4A	HP:0001249	Intellectual disability
24137	KIF4A	HP:0001419	X-linked recessive inheritance
24137	KIF4A	HP:0002069	Bilateral tonic-clonic seizure
24137	KIF4A	HP:0002121	Generalized non-motor (absence) seizure
24137	KIF4A	HP:0001999	Abnormal facial shape
24137	KIF4A	HP:0000750	Delayed speech and language development
24140	FTSJ1	HP:0009882	Short distal phalanx of finger
24140	FTSJ1	HP:0001250	Seizure
24140	FTSJ1	HP:0001249	Intellectual disability
24140	FTSJ1	HP:0001263	Global developmental delay
24140	FTSJ1	HP:0000179	Thick lower lip vermilion
24140	FTSJ1	HP:0001419	X-linked recessive inheritance
24140	FTSJ1	HP:0002194	Delayed gross motor development
24140	FTSJ1	HP:0003593	Infantile onset
24140	FTSJ1	HP:0100753	Schizophrenia
24140	FTSJ1	HP:0002342	Intellectual disability, moderate
24140	FTSJ1	HP:0000637	Long palpebral fissure
24140	FTSJ1	HP:0000629	Periorbital fullness
24140	FTSJ1	HP:0000739	Anxiety
24140	FTSJ1	HP:0000750	Delayed speech and language development
24140	FTSJ1	HP:0000718	Aggressive behavior
24140	FTSJ1	HP:0000717	Autism
24140	FTSJ1	HP:0011463	Childhood onset
24140	FTSJ1	HP:0000400	Macrotia
24140	FTSJ1	HP:0005280	Depressed nasal bridge
24145	PANX1	HP:0008669	Abnormal spermatogenesis
24145	PANX1	HP:0000006	Autosomal dominant inheritance
24145	PANX1	HP:0000147	Polycystic ovaries
24145	PANX1	HP:0032571	Increased oocyte death
24145	PANX1	HP:0008222	Female infertility
24145	PANX1	HP:0020155	Abnormal oocyte morphology
24145	PANX1	HP:0031515	Abnormal meiosis
24145	PANX1	HP:0031516	Oocyte arrest at metaphase I
24148	PRPF6	HP:0001133	Constriction of peripheral visual field
24148	PRPF6	HP:0001249	Intellectual disability
24148	PRPF6	HP:0008736	Hypoplasia of penis
24148	PRPF6	HP:0001347	Hyperreflexia
24148	PRPF6	HP:0000035	Abnormal testis morphology
24148	PRPF6	HP:0000006	Autosomal dominant inheritance
24148	PRPF6	HP:0000135	Hypogonadism
24148	PRPF6	HP:0007675	Progressive night blindness
24148	PRPF6	HP:0007663	Reduced visual acuity
24148	PRPF6	HP:0005978	Type II diabetes mellitus
24148	PRPF6	HP:0000639	Nystagmus
24148	PRPF6	HP:0000648	Optic atrophy
24148	PRPF6	HP:0000618	Blindness
24148	PRPF6	HP:0000613	Photophobia
24148	PRPF6	HP:0000602	Ophthalmoplegia
24148	PRPF6	HP:0000662	Nyctalopia
24148	PRPF6	HP:0011462	Young adult onset
24148	PRPF6	HP:0000842	Hyperinsulinemia
24148	PRPF6	HP:0000987	Atypical scarring of skin
24148	PRPF6	HP:0008046	Abnormal retinal vascular morphology
24148	PRPF6	HP:0007722	Retinal pigment epithelial atrophy
24148	PRPF6	HP:0007703	Abnormality of retinal pigmentation
24148	PRPF6	HP:0007787	Posterior subcapsular cataract
24148	PRPF6	HP:0007737	Bone spicule pigmentation of the retina
24148	PRPF6	HP:0001513	Obesity
24148	PRPF6	HP:0007843	Attenuation of retinal blood vessels
24148	PRPF6	HP:0007994	Peripheral visual field loss
24148	PRPF6	HP:0000407	Sensorineural hearing impairment
24148	PRPF6	HP:0000405	Conductive hearing impairment
24148	PRPF6	HP:0000463	Anteverted nares
24148	PRPF6	HP:0000431	Wide nasal bridge
24148	PRPF6	HP:0000518	Cataract
24148	PRPF6	HP:0000510	Rod-cone dystrophy
24148	PRPF6	HP:0000512	Abnormal electroretinogram
24148	PRPF6	HP:0000505	Visual impairment
24148	PRPF6	HP:0000501	Glaucoma
24148	PRPF6	HP:0000563	Keratoconus
24148	PRPF6	HP:0000543	Optic disc pallor
25776	CBY1	HP:0001161	Hand polydactyly
25776	CBY1	HP:0001288	Gait disturbance
25776	CBY1	HP:0001250	Seizure
25776	CBY1	HP:0001252	Hypotonia
25776	CBY1	HP:0001251	Ataxia
25776	CBY1	HP:0001249	Intellectual disability
25776	CBY1	HP:0001263	Global developmental delay
25776	CBY1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
25776	CBY1	HP:0002553	Highly arched eyebrow
25776	CBY1	HP:0008872	Feeding difficulties in infancy
25776	CBY1	HP:0001337	Tremor
25776	CBY1	HP:0001320	Cerebellar vermis hypoplasia
25776	CBY1	HP:0002650	Scoliosis
25776	CBY1	HP:0002793	Abnormal pattern of respiration
25776	CBY1	HP:0003312	Abnormal form of the vertebral bodies
25776	CBY1	HP:0002084	Encephalocele
25776	CBY1	HP:0002126	Polymicrogyria
25776	CBY1	HP:0002104	Apnea
25776	CBY1	HP:0002269	Abnormality of neuronal migration
25776	CBY1	HP:0002251	Aganglionic megacolon
25776	CBY1	HP:0000639	Nystagmus
25776	CBY1	HP:0000612	Iris coloboma
25776	CBY1	HP:0000657	Oculomotor apraxia
25776	CBY1	HP:0030680	Abnormality of cardiovascular system morphology
25776	CBY1	HP:0004422	Biparietal narrowing
25776	CBY1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
25776	CBY1	HP:0000276	Long face
25776	CBY1	HP:0000238	Hydrocephalus
25776	CBY1	HP:0002876	Episodic tachypnea
25776	CBY1	HP:0000202	Orofacial cleft
25776	CBY1	HP:0001696	Situs inversus totalis
25776	CBY1	HP:0000369	Low-set ears
25776	CBY1	HP:0000486	Strabismus
25776	CBY1	HP:0000463	Anteverted nares
25776	CBY1	HP:0000426	Prominent nasal bridge
25776	CBY1	HP:0001829	Foot polydactyly
25776	CBY1	HP:0000508	Ptosis
25778	DSTYK	HP:0003774	Stage 5 chronic kidney disease
25778	DSTYK	HP:0001256	Intellectual disability, mild
25778	DSTYK	HP:0001250	Seizure
25778	DSTYK	HP:0001258	Spastic paraplegia
25778	DSTYK	HP:0007340	Lower limb muscle weakness
25778	DSTYK	HP:0002515	Waddling gait
25778	DSTYK	HP:0003829	Typified by incomplete penetrance
25778	DSTYK	HP:0002505	Loss of ambulation
25778	DSTYK	HP:0000085	Horseshoe kidney
25778	DSTYK	HP:0000076	Vesicoureteral reflux
25778	DSTYK	HP:0000074	Ureteropelvic junction obstruction
25778	DSTYK	HP:0001347	Hyperreflexia
25778	DSTYK	HP:0000007	Autosomal recessive inheritance
25778	DSTYK	HP:0000006	Autosomal dominant inheritance
25778	DSTYK	HP:0002650	Scoliosis
25778	DSTYK	HP:0002607	Bowel incontinence
25778	DSTYK	HP:0002751	Kyphoscoliosis
25778	DSTYK	HP:0002064	Spastic gait
25778	DSTYK	HP:0003487	Babinski sign
25778	DSTYK	HP:0004771	Premature graying of body hair
25778	DSTYK	HP:0003577	Congenital onset
25778	DSTYK	HP:0002218	Silver-gray hair
25778	DSTYK	HP:0003691	Scapular winging
25778	DSTYK	HP:0001045	Vitiligo
25778	DSTYK	HP:0001003	Multiple lentigines
25778	DSTYK	HP:0009830	Peripheral neuropathy
25778	DSTYK	HP:0005586	Hyperpigmentation in sun-exposed areas
25778	DSTYK	HP:0004322	Short stature
25778	DSTYK	HP:0012701	Bowel urgency
25778	DSTYK	HP:0011463	Childhood onset
25778	DSTYK	HP:0000278	Retrognathia
25778	DSTYK	HP:0000275	Narrow face
25778	DSTYK	HP:0002827	Hip dislocation
25778	DSTYK	HP:0000252	Microcephaly
25778	DSTYK	HP:0000347	Micrognathia
25782	RAB3GAP2	HP:0001155	Abnormality of the hand
25782	RAB3GAP2	HP:0100952	Enlarged sylvian cistern
25782	RAB3GAP2	HP:0002464	Spastic dysarthria
25782	RAB3GAP2	HP:0008593	Prominent antitragus
25782	RAB3GAP2	HP:0010864	Intellectual disability, severe
25782	RAB3GAP2	HP:0001274	Agenesis of corpus callosum
25782	RAB3GAP2	HP:0001256	Intellectual disability, mild
25782	RAB3GAP2	HP:0001250	Seizure
25782	RAB3GAP2	HP:0001252	Hypotonia
25782	RAB3GAP2	HP:0001249	Intellectual disability
25782	RAB3GAP2	HP:0001264	Spastic diplegia
25782	RAB3GAP2	HP:0001263	Global developmental delay
25782	RAB3GAP2	HP:0001257	Spasticity
25782	RAB3GAP2	HP:0008736	Hypoplasia of penis
25782	RAB3GAP2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
25782	RAB3GAP2	HP:0006094	Finger joint hypermobility
25782	RAB3GAP2	HP:0000064	Hypoplastic labia minora
25782	RAB3GAP2	HP:0000060	Clitoral hypoplasia
25782	RAB3GAP2	HP:0000059	Hypoplastic labia majora
25782	RAB3GAP2	HP:0000044	Hypogonadotropic hypogonadism
25782	RAB3GAP2	HP:0000046	Small scrotum
25782	RAB3GAP2	HP:0001371	Flexion contracture
25782	RAB3GAP2	HP:0025336	Delayed ability to sit
25782	RAB3GAP2	HP:0000054	Micropenis
25782	RAB3GAP2	HP:0001388	Joint laxity
25782	RAB3GAP2	HP:0001387	Joint stiffness
25782	RAB3GAP2	HP:0000023	Inguinal hernia
25782	RAB3GAP2	HP:0000028	Cryptorchidism
25782	RAB3GAP2	HP:0008897	Postnatal growth retardation
25782	RAB3GAP2	HP:0008872	Feeding difficulties in infancy
25782	RAB3GAP2	HP:0007495	Prematurely aged appearance
25782	RAB3GAP2	HP:0007477	Abnormal dermatoglyphics
25782	RAB3GAP2	HP:0003992	Slender ulna
25782	RAB3GAP2	HP:0001344	Absent speech
25782	RAB3GAP2	HP:0001339	Lissencephaly
25782	RAB3GAP2	HP:0000007	Autosomal recessive inheritance
25782	RAB3GAP2	HP:0001302	Pachygyria
25782	RAB3GAP2	HP:0001320	Cerebellar vermis hypoplasia
25782	RAB3GAP2	HP:0002650	Scoliosis
25782	RAB3GAP2	HP:0001317	Abnormal cerebellum morphology
25782	RAB3GAP2	HP:0001315	Reduced tendon reflexes
25782	RAB3GAP2	HP:0008936	Axial hypotonia
25782	RAB3GAP2	HP:0002779	Tracheomalacia
25782	RAB3GAP2	HP:0000126	Hydronephrosis
25782	RAB3GAP2	HP:0004684	Talipes valgus
25782	RAB3GAP2	HP:0003307	Hyperlordosis
25782	RAB3GAP2	HP:0011800	Midface retrusion
25782	RAB3GAP2	HP:0100542	Abnormal localization of kidney
25782	RAB3GAP2	HP:0002061	Lower limb spasticity
25782	RAB3GAP2	HP:0002079	Hypoplasia of the corpus callosum
25782	RAB3GAP2	HP:0009465	Ulnar deviation of finger
25782	RAB3GAP2	HP:0002120	Cerebral cortical atrophy
25782	RAB3GAP2	HP:0002119	Ventriculomegaly
25782	RAB3GAP2	HP:0002126	Polymicrogyria
25782	RAB3GAP2	HP:0011918	Clinodactyly of the 4th toe
25782	RAB3GAP2	HP:0002169	Clonus
25782	RAB3GAP2	HP:0002162	Low posterior hairline
25782	RAB3GAP2	HP:0003577	Congenital onset
25782	RAB3GAP2	HP:0100704	Cerebral visual impairment
25782	RAB3GAP2	HP:0100702	Arachnoid cyst
25782	RAB3GAP2	HP:0002230	Generalized hirsutism
25782	RAB3GAP2	HP:0002205	Recurrent respiratory infections
25782	RAB3GAP2	HP:0009738	Abnormal antihelix morphology
25782	RAB3GAP2	HP:0010722	Asymmetry of the ears
25782	RAB3GAP2	HP:0002283	Global brain atrophy
25782	RAB3GAP2	HP:0007020	Progressive spastic paraplegia
25782	RAB3GAP2	HP:0008388	Abnormal toenail morphology
25782	RAB3GAP2	HP:0002378	Hand tremor
25782	RAB3GAP2	HP:0009830	Peripheral neuropathy
25782	RAB3GAP2	HP:0009832	Abnormal distal phalanx morphology of finger
25782	RAB3GAP2	HP:0009803	Short phalanx of finger
25782	RAB3GAP2	HP:0010740	Osteopathia striata
25782	RAB3GAP2	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
25782	RAB3GAP2	HP:0004279	Short palm
25782	RAB3GAP2	HP:0006887	Intellectual disability, progressive
25782	RAB3GAP2	HP:0000649	Abnormality of visual evoked potentials
25782	RAB3GAP2	HP:0000648	Optic atrophy
25782	RAB3GAP2	HP:0000601	Hypotelorism
25782	RAB3GAP2	HP:0010049	Short metacarpal
25782	RAB3GAP2	HP:0011344	Severe global developmental delay
25782	RAB3GAP2	HP:0000692	Tooth malposition
25782	RAB3GAP2	HP:0011300	Broad fingertip
25782	RAB3GAP2	HP:0004322	Short stature
25782	RAB3GAP2	HP:0031936	Delayed ability to walk
25782	RAB3GAP2	HP:0100022	Abnormality of movement
25782	RAB3GAP2	HP:0000767	Pectus excavatum
25782	RAB3GAP2	HP:0000768	Pectus carinatum
25782	RAB3GAP2	HP:0000750	Delayed speech and language development
25782	RAB3GAP2	HP:0005743	Avascular necrosis of the capital femoral epiphysis
25782	RAB3GAP2	HP:0004405	Prominent nipples
25782	RAB3GAP2	HP:0003196	Short nose
25782	RAB3GAP2	HP:0000823	Delayed puberty
25782	RAB3GAP2	HP:0030891	Periventricular white matter hyperintensities
25782	RAB3GAP2	HP:0007703	Abnormality of retinal pigmentation
25782	RAB3GAP2	HP:0000286	Epicanthus
25782	RAB3GAP2	HP:0000294	Low anterior hairline
25782	RAB3GAP2	HP:0000272	Malar flattening
25782	RAB3GAP2	HP:0006429	Broad femoral neck
25782	RAB3GAP2	HP:0002808	Kyphosis
25782	RAB3GAP2	HP:0000252	Microcephaly
25782	RAB3GAP2	HP:0000248	Brachycephaly
25782	RAB3GAP2	HP:0000221	Furrowed tongue
25782	RAB3GAP2	HP:0000218	High palate
25782	RAB3GAP2	HP:0000232	Everted lower lip vermilion
25782	RAB3GAP2	HP:0001511	Intrauterine growth retardation
25782	RAB3GAP2	HP:0002938	Lumbar hyperlordosis
25782	RAB3GAP2	HP:0002943	Thoracic scoliosis
25782	RAB3GAP2	HP:0000365	Hearing impairment
25782	RAB3GAP2	HP:0001695	Cardiac arrest
25782	RAB3GAP2	HP:0000358	Posteriorly rotated ears
25782	RAB3GAP2	HP:0000369	Low-set ears
25782	RAB3GAP2	HP:0000368	Low-set, posteriorly rotated ears
25782	RAB3GAP2	HP:0000343	Long philtrum
25782	RAB3GAP2	HP:0000347	Micrognathia
25782	RAB3GAP2	HP:0000327	Hypoplasia of the maxilla
25782	RAB3GAP2	HP:0000322	Short philtrum
25782	RAB3GAP2	HP:0001635	Congestive heart failure
25782	RAB3GAP2	HP:0001638	Cardiomyopathy
25782	RAB3GAP2	HP:0007965	Undetectable visual evoked potentials
25782	RAB3GAP2	HP:0000400	Macrotia
25782	RAB3GAP2	HP:0005280	Depressed nasal bridge
25782	RAB3GAP2	HP:0000486	Strabismus
25782	RAB3GAP2	HP:0000480	Retinal coloboma
25782	RAB3GAP2	HP:0000482	Microcornea
25782	RAB3GAP2	HP:0000494	Downslanted palpebral fissures
25782	RAB3GAP2	HP:0000490	Deeply set eye
25782	RAB3GAP2	HP:0000463	Anteverted nares
25782	RAB3GAP2	HP:0012447	Abnormal myelination
25782	RAB3GAP2	HP:0000455	Broad nasal tip
25782	RAB3GAP2	HP:0001763	Pes planus
25782	RAB3GAP2	HP:0001762	Talipes equinovarus
25782	RAB3GAP2	HP:0000431	Wide nasal bridge
25782	RAB3GAP2	HP:0000426	Prominent nasal bridge
25782	RAB3GAP2	HP:0005484	Secondary microcephaly
25782	RAB3GAP2	HP:0000518	Cataract
25782	RAB3GAP2	HP:0000519	Developmental cataract
25782	RAB3GAP2	HP:0001845	Overlapping toe
25782	RAB3GAP2	HP:0001840	Metatarsus adductus
25782	RAB3GAP2	HP:0001831	Short toe
25782	RAB3GAP2	HP:0000568	Microphthalmia
25782	RAB3GAP2	HP:0001864	Clinodactyly of the 5th toe
25788	RAD54B	HP:0002665	Lymphoma
25788	RAD54B	HP:0000006	Autosomal dominant inheritance
25788	RAD54B	HP:0001428	Somatic mutation
25788	RAD54B	HP:0005584	Renal cell carcinoma
25788	RAD54B	HP:0002891	Uterine leiomyosarcoma
25788	RAD54B	HP:0006753	Neoplasm of the stomach
25788	RAD54B	HP:0006740	Transitional cell carcinoma of the bladder
25788	RAD54B	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
25790	CFAP45	HP:0002566	Intestinal malrotation
25790	CFAP45	HP:0000007	Autosomal recessive inheritance
25790	CFAP45	HP:0010445	Primum atrial septal defect
25790	CFAP45	HP:0003577	Congenital onset
25790	CFAP45	HP:0002247	Duodenal atresia
25790	CFAP45	HP:0034011	Reduced progressive sperm motility
25790	CFAP45	HP:0011577	Partial atrioventricular canal defect
25790	CFAP45	HP:0033036	Decreased nasal nitric oxide
25790	CFAP45	HP:0000389	Chronic otitis media
25790	CFAP45	HP:0001696	Situs inversus totalis
25790	CFAP45	HP:0011109	Chronic sinusitis
25790	CFAP45	HP:0031590	Asthenopia
25790	CFAP45	HP:0001748	Polysplenia
25792	CIZ1	HP:0025269	Panic attack
25792	CIZ1	HP:0001272	Cerebellar atrophy
25792	CIZ1	HP:0002530	Axial dystonia
25792	CIZ1	HP:0001336	Myoclonus
25792	CIZ1	HP:0012179	Craniofacial dystonia
25792	CIZ1	HP:0002120	Cerebral cortical atrophy
25792	CIZ1	HP:0200085	Limb tremor
25792	CIZ1	HP:0002355	Difficulty walking
25792	CIZ1	HP:0002356	Writer's cramp
25792	CIZ1	HP:0002346	Head tremor
25792	CIZ1	HP:0002317	Unsteady gait
25792	CIZ1	HP:0004373	Focal dystonia
25792	CIZ1	HP:0012893	Neck muscle hypertrophy
25792	CIZ1	HP:0005115	Supraventricular arrhythmia
25792	CIZ1	HP:0002883	Hyperventilation
25792	CIZ1	HP:0001618	Dysphonia
25792	CIZ1	HP:0000473	Torticollis
25793	FBXO7	HP:0007256	Abnormal pyramidal sign
25793	FBXO7	HP:0001260	Dysarthria
25793	FBXO7	HP:0001257	Spasticity
25793	FBXO7	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
25793	FBXO7	HP:0001347	Hyperreflexia
25793	FBXO7	HP:0001332	Dystonia
25793	FBXO7	HP:0000011	Neurogenic bladder
25793	FBXO7	HP:0000007	Autosomal recessive inheritance
25793	FBXO7	HP:0001337	Tremor
25793	FBXO7	HP:0001336	Myoclonus
25793	FBXO7	HP:0001300	Parkinsonism
25793	FBXO7	HP:0002015	Dysphagia
25793	FBXO7	HP:0002080	Intention tremor
25793	FBXO7	HP:0100543	Cognitive impairment
25793	FBXO7	HP:0002067	Bradykinesia
25793	FBXO7	HP:0002063	Rigidity
25793	FBXO7	HP:0002061	Lower limb spasticity
25793	FBXO7	HP:0002071	Abnormality of extrapyramidal motor function
25793	FBXO7	HP:0003487	Babinski sign
25793	FBXO7	HP:0002172	Postural instability
25793	FBXO7	HP:0011960	Substantia nigra gliosis
25793	FBXO7	HP:0002367	Visual hallucinations
25793	FBXO7	HP:0002362	Shuffling gait
25793	FBXO7	HP:0002360	Sleep disturbance
25793	FBXO7	HP:0003677	Slowly progressive
25793	FBXO7	HP:0000726	Dementia
25793	FBXO7	HP:0011463	Childhood onset
25793	FBXO7	HP:0100315	Lewy bodies
25793	FBXO7	HP:0031435	Monotonic speech
25793	FBXO7	HP:0012332	Abnormal autonomic nervous system physiology
25793	FBXO7	HP:0000338	Hypomimic face
25793	FBXO7	HP:0012407	Scissor gait
25793	FBXO7	HP:0001762	Talipes equinovarus
25793	FBXO7	HP:0000514	Slow saccadic eye movements
25794	FSCN2	HP:0001249	Intellectual disability
25794	FSCN2	HP:0008736	Hypoplasia of penis
25794	FSCN2	HP:0001347	Hyperreflexia
25794	FSCN2	HP:0000035	Abnormal testis morphology
25794	FSCN2	HP:0000006	Autosomal dominant inheritance
25794	FSCN2	HP:0000135	Hypogonadism
25794	FSCN2	HP:0007675	Progressive night blindness
25794	FSCN2	HP:0005978	Type II diabetes mellitus
25794	FSCN2	HP:0000639	Nystagmus
25794	FSCN2	HP:0000648	Optic atrophy
25794	FSCN2	HP:0000618	Blindness
25794	FSCN2	HP:0000613	Photophobia
25794	FSCN2	HP:0000602	Ophthalmoplegia
25794	FSCN2	HP:0000662	Nyctalopia
25794	FSCN2	HP:0000842	Hyperinsulinemia
25794	FSCN2	HP:0000987	Atypical scarring of skin
25794	FSCN2	HP:0008046	Abnormal retinal vascular morphology
25794	FSCN2	HP:0007703	Abnormality of retinal pigmentation
25794	FSCN2	HP:0007737	Bone spicule pigmentation of the retina
25794	FSCN2	HP:0001513	Obesity
25794	FSCN2	HP:0007843	Attenuation of retinal blood vessels
25794	FSCN2	HP:0000407	Sensorineural hearing impairment
25794	FSCN2	HP:0000405	Conductive hearing impairment
25794	FSCN2	HP:0000463	Anteverted nares
25794	FSCN2	HP:0000431	Wide nasal bridge
25794	FSCN2	HP:0000518	Cataract
25794	FSCN2	HP:0000510	Rod-cone dystrophy
25794	FSCN2	HP:0000512	Abnormal electroretinogram
25794	FSCN2	HP:0000505	Visual impairment
25794	FSCN2	HP:0000501	Glaucoma
25794	FSCN2	HP:0000563	Keratoconus
25794	FSCN2	HP:0000533	Chorioretinal atrophy
25802	LMOD1	HP:0010956	Fetal megacystis
25802	LMOD1	HP:0100806	Sepsis
25802	LMOD1	HP:0002566	Intestinal malrotation
25802	LMOD1	HP:0003811	Neonatal death
25802	LMOD1	HP:0000072	Hydroureter
25802	LMOD1	HP:0000021	Megacystis
25802	LMOD1	HP:0000028	Cryptorchidism
25802	LMOD1	HP:0000007	Autosomal recessive inheritance
25802	LMOD1	HP:0000003	Multicystic kidney dysplasia
25802	LMOD1	HP:0000126	Hydronephrosis
25802	LMOD1	HP:0002017	Nausea and vomiting
25802	LMOD1	HP:0100544	Neoplasm of the heart
25802	LMOD1	HP:0100771	Hypoperistalsis
25802	LMOD1	HP:0030680	Abnormality of cardiovascular system morphology
25802	LMOD1	HP:0004388	Microcolon
25802	LMOD1	HP:0011461	Fetal onset
25802	LMOD1	HP:0003270	Abdominal distention
25802	LMOD1	HP:0001561	Polyhydramnios
25802	LMOD1	HP:0001522	Death in infancy
25802	LMOD1	HP:0001537	Umbilical hernia
25802	LMOD1	HP:0001539	Omphalocele
25802	LMOD1	HP:0011024	Abnormality of the gastrointestinal tract
25802	LMOD1	HP:0001627	Abnormal heart morphology
25814	ATXN10	HP:0007289	Limb fasciculations
25814	ATXN10	HP:0007256	Abnormal pyramidal sign
25814	ATXN10	HP:0003743	Genetic anticipation
25814	ATXN10	HP:0001290	Generalized hypotonia
25814	ATXN10	HP:0001272	Cerebellar atrophy
25814	ATXN10	HP:0001271	Polyneuropathy
25814	ATXN10	HP:0001250	Seizure
25814	ATXN10	HP:0001265	Hyporeflexia
25814	ATXN10	HP:0001260	Dysarthria
25814	ATXN10	HP:0003829	Typified by incomplete penetrance
25814	ATXN10	HP:0000020	Urinary incontinence
25814	ATXN10	HP:0001347	Hyperreflexia
25814	ATXN10	HP:0000012	Urinary urgency
25814	ATXN10	HP:0000006	Autosomal dominant inheritance
25814	ATXN10	HP:0001310	Dysmetria
25814	ATXN10	HP:0002015	Dysphagia
25814	ATXN10	HP:0002080	Intention tremor
25814	ATXN10	HP:0002067	Bradykinesia
25814	ATXN10	HP:0002066	Gait ataxia
25814	ATXN10	HP:0002061	Lower limb spasticity
25814	ATXN10	HP:0002062	Morphological abnormality of the pyramidal tract
25814	ATXN10	HP:0002075	Dysdiadochokinesis
25814	ATXN10	HP:0002073	Progressive cerebellar ataxia
25814	ATXN10	HP:0002070	Limb ataxia
25814	ATXN10	HP:0002071	Abnormality of extrapyramidal motor function
25814	ATXN10	HP:0002141	Gait imbalance
25814	ATXN10	HP:0003487	Babinski sign
25814	ATXN10	HP:0002133	Status epilepticus
25814	ATXN10	HP:0002197	Generalized-onset seizure
25814	ATXN10	HP:0002168	Scanning speech
25814	ATXN10	HP:0003596	Middle age onset
25814	ATXN10	HP:0002384	Focal impaired awareness seizure
25814	ATXN10	HP:0002360	Sleep disturbance
25814	ATXN10	HP:0002317	Unsteady gait
25814	ATXN10	HP:0100660	Dyskinesia
25814	ATXN10	HP:0002311	Incoordination
25814	ATXN10	HP:0000640	Gaze-evoked nystagmus
25814	ATXN10	HP:0000639	Nystagmus
25814	ATXN10	HP:0000762	Decreased nerve conduction velocity
25814	ATXN10	HP:0000741	Apathy
25814	ATXN10	HP:0000716	Depression
25814	ATXN10	HP:0000718	Aggressive behavior
25814	ATXN10	HP:0000726	Dementia
25814	ATXN10	HP:0011462	Young adult onset
25814	ATXN10	HP:0007772	Impaired smooth pursuit
25814	ATXN10	HP:0030186	Kinetic tremor
25814	ATXN10	HP:0002936	Distal sensory impairment
25814	ATXN10	HP:0011198	EEG with generalized epileptiform discharges
25814	ATXN10	HP:0011153	Focal motor seizure
25821	MTO1	HP:0002465	Poor speech
25821	MTO1	HP:0001250	Seizure
25821	MTO1	HP:0001252	Hypotonia
25821	MTO1	HP:0001263	Global developmental delay
25821	MTO1	HP:0001257	Spasticity
25821	MTO1	HP:0001332	Dystonia
25821	MTO1	HP:0000007	Autosomal recessive inheritance
25821	MTO1	HP:0003348	Hyperalaninemia
25821	MTO1	HP:0002151	Increased serum lactate
25821	MTO1	HP:0011924	Decreased activity of mitochondrial complex III
25821	MTO1	HP:0003593	Infantile onset
25821	MTO1	HP:0003577	Congenital onset
25821	MTO1	HP:0002202	Pleural effusion
25821	MTO1	HP:0011968	Feeding difficulties
25821	MTO1	HP:0000648	Optic atrophy
25821	MTO1	HP:0001943	Hypoglycemia
25821	MTO1	HP:0001942	Metabolic acidosis
25821	MTO1	HP:0001987	Hyperammonemia
25821	MTO1	HP:0003128	Lactic acidosis
25821	MTO1	HP:0001562	Oligohydramnios
25821	MTO1	HP:0001541	Ascites
25821	MTO1	HP:0001508	Failure to thrive
25821	MTO1	HP:0001518	Small for gestational age
25821	MTO1	HP:0001511	Intrauterine growth retardation
25821	MTO1	HP:0001698	Pericardial effusion
25821	MTO1	HP:0001662	Bradycardia
25821	MTO1	HP:0001640	Cardiomegaly
25821	MTO1	HP:0001639	Hypertrophic cardiomyopathy
25828	TXN2	HP:0002490	Increased CSF lactate
25828	TXN2	HP:0001138	Optic neuropathy
25828	TXN2	HP:0002416	Subependymal cysts
25828	TXN2	HP:0003739	Myoclonic spasms
25828	TXN2	HP:0001290	Generalized hypotonia
25828	TXN2	HP:0001272	Cerebellar atrophy
25828	TXN2	HP:0001250	Seizure
25828	TXN2	HP:0002579	Gastrointestinal dysmotility
25828	TXN2	HP:0001263	Global developmental delay
25828	TXN2	HP:0001257	Spasticity
25828	TXN2	HP:0003808	Abnormal muscle tone
25828	TXN2	HP:0001332	Dystonia
25828	TXN2	HP:0000007	Autosomal recessive inheritance
25828	TXN2	HP:0002069	Bilateral tonic-clonic seizure
25828	TXN2	HP:0002151	Increased serum lactate
25828	TXN2	HP:0011924	Decreased activity of mitochondrial complex III
25828	TXN2	HP:0011923	Decreased activity of mitochondrial complex I
25828	TXN2	HP:0002188	Delayed CNS myelination
25828	TXN2	HP:0002180	Neurodegeneration
25828	TXN2	HP:0003593	Infantile onset
25828	TXN2	HP:0003577	Congenital onset
25828	TXN2	HP:0002283	Global brain atrophy
25828	TXN2	HP:0011968	Feeding difficulties
25828	TXN2	HP:0002370	Poor coordination
25828	TXN2	HP:0003676	Progressive
25828	TXN2	HP:0009830	Peripheral neuropathy
25828	TXN2	HP:0000648	Optic atrophy
25828	TXN2	HP:0011344	Severe global developmental delay
25828	TXN2	HP:0011451	Primary microcephaly
25828	TXN2	HP:0040078	Axonal degeneration
25828	TXN2	HP:0030884	Gastrojejunal tube feeding in infancy
25828	TXN2	HP:0100275	Diffuse cerebellar atrophy
25828	TXN2	HP:0000252	Microcephaly
25828	TXN2	HP:0002922	Increased CSF protein concentration
25828	TXN2	HP:0012332	Abnormal autonomic nervous system physiology
25828	TXN2	HP:0000488	Retinopathy
25828	TXN2	HP:0012448	Delayed myelination
25836	NIPBL	HP:0001180	Hand oligodactyly
25836	NIPBL	HP:0010880	Increased nuchal translucency
25836	NIPBL	HP:0010864	Intellectual disability, severe
25836	NIPBL	HP:0003745	Sporadic
25836	NIPBL	HP:0001276	Hypertonia
25836	NIPBL	HP:0001250	Seizure
25836	NIPBL	HP:0002580	Volvulus
25836	NIPBL	HP:0001252	Hypotonia
25836	NIPBL	HP:0001249	Intellectual disability
25836	NIPBL	HP:0002557	Hypoplastic nipples
25836	NIPBL	HP:0002566	Intestinal malrotation
25836	NIPBL	HP:0008736	Hypoplasia of penis
25836	NIPBL	HP:0007360	Aplasia/Hypoplasia of the cerebellum
25836	NIPBL	HP:0002553	Highly arched eyebrow
25836	NIPBL	HP:0000089	Renal hypoplasia
25836	NIPBL	HP:0000083	Renal insufficiency
25836	NIPBL	HP:0000086	Ectopic kidney
25836	NIPBL	HP:0000093	Proteinuria
25836	NIPBL	HP:0000059	Hypoplastic labia majora
25836	NIPBL	HP:0000076	Vesicoureteral reflux
25836	NIPBL	HP:0001377	Limited elbow extension
25836	NIPBL	HP:0001385	Hip dysplasia
25836	NIPBL	HP:0001387	Joint stiffness
25836	NIPBL	HP:0000050	Hypoplastic male external genitalia
25836	NIPBL	HP:0000047	Hypospadias
25836	NIPBL	HP:0000023	Inguinal hernia
25836	NIPBL	HP:0000028	Cryptorchidism
25836	NIPBL	HP:0008872	Feeding difficulties in infancy
25836	NIPBL	HP:0008850	Severe postnatal growth retardation
25836	NIPBL	HP:0000003	Multicystic kidney dysplasia
25836	NIPBL	HP:0000006	Autosomal dominant inheritance
25836	NIPBL	HP:0003997	Hypoplastic radial head
25836	NIPBL	HP:0012165	Oligodactyly
25836	NIPBL	HP:0000175	Cleft palate
25836	NIPBL	HP:0007665	Curly eyelashes
25836	NIPBL	HP:0002705	High, narrow palate
25836	NIPBL	HP:0007598	Bilateral single transverse palmar creases
25836	NIPBL	HP:0000130	Abnormality of the uterus
25836	NIPBL	HP:0000107	Renal cyst
25836	NIPBL	HP:0031228	Abnormal incisura morphology
25836	NIPBL	HP:0002750	Delayed skeletal maturation
25836	NIPBL	HP:0002714	Downturned corners of mouth
25836	NIPBL	HP:0002021	Pyloric stenosis
25836	NIPBL	HP:0002020	Gastroesophageal reflux
25836	NIPBL	HP:0002036	Hiatus hernia
25836	NIPBL	HP:0004691	2-3 toe syndactyly
25836	NIPBL	HP:0002090	Pneumonia
25836	NIPBL	HP:0004785	Malrotation of colon
25836	NIPBL	HP:0002120	Cerebral cortical atrophy
25836	NIPBL	HP:0002119	Ventriculomegaly
25836	NIPBL	HP:0009623	Proximal placement of thumb
25836	NIPBL	HP:0002167	Abnormality of speech or vocalization
25836	NIPBL	HP:0002162	Low posterior hairline
25836	NIPBL	HP:0100716	Self-injurious behavior
25836	NIPBL	HP:0002230	Generalized hirsutism
25836	NIPBL	HP:0007018	Attention deficit hyperactivity disorder
25836	NIPBL	HP:0002360	Sleep disturbance
25836	NIPBL	HP:0001007	Hirsutism
25836	NIPBL	HP:0009829	Phocomelia
25836	NIPBL	HP:0009830	Peripheral neuropathy
25836	NIPBL	HP:0200055	Small hand
25836	NIPBL	HP:0004209	Clinodactyly of the 5th finger
25836	NIPBL	HP:0005565	Reduced renal corticomedullary differentiation
25836	NIPBL	HP:0000639	Nystagmus
25836	NIPBL	HP:0000648	Optic atrophy
25836	NIPBL	HP:0001956	Truncal obesity
25836	NIPBL	HP:0010034	Short 1st metacarpal
25836	NIPBL	HP:0000684	Delayed eruption of teeth
25836	NIPBL	HP:0000687	Widely spaced teeth
25836	NIPBL	HP:0000667	Phthisis bulbi
25836	NIPBL	HP:0000664	Synophrys
25836	NIPBL	HP:0004322	Short stature
25836	NIPBL	HP:0030680	Abnormality of cardiovascular system morphology
25836	NIPBL	HP:0003083	Dislocated radial head
25836	NIPBL	HP:0003042	Elbow dislocation
25836	NIPBL	HP:0000767	Pectus excavatum
25836	NIPBL	HP:0000739	Anxiety
25836	NIPBL	HP:0000750	Delayed speech and language development
25836	NIPBL	HP:0000717	Autism
25836	NIPBL	HP:0000722	Compulsive behaviors
25836	NIPBL	HP:0000776	Congenital diaphragmatic hernia
25836	NIPBL	HP:0000786	Primary amenorrhea
25836	NIPBL	HP:0003196	Short nose
25836	NIPBL	HP:0000879	Short sternum
25836	NIPBL	HP:0000823	Delayed puberty
25836	NIPBL	HP:0040071	Abnormal morphology of ulna
25836	NIPBL	HP:0010300	Abnormally low-pitched voice
25836	NIPBL	HP:0000954	Single transverse palmar crease
25836	NIPBL	HP:0000965	Cutis marmorata
25836	NIPBL	HP:0005815	Supernumerary ribs
25836	NIPBL	HP:0000294	Low anterior hairline
25836	NIPBL	HP:0002827	Hip dislocation
25836	NIPBL	HP:0000252	Microcephaly
25836	NIPBL	HP:0000248	Brachycephaly
25836	NIPBL	HP:0001551	Abnormal umbilicus morphology
25836	NIPBL	HP:0012210	Abnormal renal morphology
25836	NIPBL	HP:0000219	Thin upper lip vermilion
25836	NIPBL	HP:0000218	High palate
25836	NIPBL	HP:0000233	Thin vermilion border
25836	NIPBL	HP:0001557	Prenatal movement abnormality
25836	NIPBL	HP:0000204	Cleft upper lip
25836	NIPBL	HP:0001508	Failure to thrive
25836	NIPBL	HP:0001511	Intrauterine growth retardation
25836	NIPBL	HP:0000388	Otitis media
25836	NIPBL	HP:0005217	Duplication of internal organs
25836	NIPBL	HP:0001612	Weak cry
25836	NIPBL	HP:0000369	Low-set ears
25836	NIPBL	HP:0000368	Low-set, posteriorly rotated ears
25836	NIPBL	HP:0000343	Long philtrum
25836	NIPBL	HP:0000347	Micrognathia
25836	NIPBL	HP:0002983	Micromelia
25836	NIPBL	HP:0002974	Radioulnar synostosis
25836	NIPBL	HP:0002987	Elbow flexion contracture
25836	NIPBL	HP:0002984	Hypoplasia of the radius
25836	NIPBL	HP:0001629	Ventricular septal defect
25836	NIPBL	HP:0001622	Premature birth
25836	NIPBL	HP:0001631	Atrial septal defect
25836	NIPBL	HP:0000498	Blepharitis
25836	NIPBL	HP:0000407	Sensorineural hearing impairment
25836	NIPBL	HP:0000405	Conductive hearing impairment
25836	NIPBL	HP:0000400	Macrotia
25836	NIPBL	HP:0005280	Depressed nasal bridge
25836	NIPBL	HP:0000483	Astigmatism
25836	NIPBL	HP:0000486	Strabismus
25836	NIPBL	HP:0000482	Microcornea
25836	NIPBL	HP:0000463	Anteverted nares
25836	NIPBL	HP:0000470	Short neck
25836	NIPBL	HP:0001770	Toe syndactyly
25836	NIPBL	HP:0001773	Short foot
25836	NIPBL	HP:0000453	Choanal atresia
25836	NIPBL	HP:0000413	Atresia of the external auditory canal
25836	NIPBL	HP:0000518	Cataract
25836	NIPBL	HP:0000527	Long eyelashes
25836	NIPBL	HP:0000520	Proptosis
25836	NIPBL	HP:0000508	Ptosis
25836	NIPBL	HP:0000501	Glaucoma
25836	NIPBL	HP:0000588	Optic disc coloboma
25836	NIPBL	HP:0000574	Thick eyebrow
25836	NIPBL	HP:0001883	Talipes
25836	NIPBL	HP:0001873	Thrombocytopenia
25836	NIPBL	HP:0000545	Myopia
25839	COG4	HP:0009882	Short distal phalanx of finger
25839	COG4	HP:0001290	Generalized hypotonia
25839	COG4	HP:0001276	Hypertonia
25839	COG4	HP:0001270	Motor delay
25839	COG4	HP:0001250	Seizure
25839	COG4	HP:0001251	Ataxia
25839	COG4	HP:0001263	Global developmental delay
25839	COG4	HP:0100874	Thick hair
25839	COG4	HP:0002509	Limb hypertonia
25839	COG4	HP:0001399	Hepatic failure
25839	COG4	HP:0001394	Cirrhosis
25839	COG4	HP:0001347	Hyperreflexia
25839	COG4	HP:0008897	Postnatal growth retardation
25839	COG4	HP:0001344	Absent speech
25839	COG4	HP:0002673	Coxa valga
25839	COG4	HP:0000007	Autosomal recessive inheritance
25839	COG4	HP:0000006	Autosomal dominant inheritance
25839	COG4	HP:0008936	Axial hypotonia
25839	COG4	HP:0008935	Generalized neonatal hypotonia
25839	COG4	HP:0002788	Recurrent upper respiratory tract infections
25839	COG4	HP:0001433	Hepatosplenomegaly
25839	COG4	HP:0002028	Chronic diarrhea
25839	COG4	HP:0002007	Frontal bossing
25839	COG4	HP:0003311	Hypoplasia of the odontoid process
25839	COG4	HP:0003301	Irregular vertebral endplates
25839	COG4	HP:0003396	Syringomyelia
25839	COG4	HP:0002079	Hypoplasia of the corpus callosum
25839	COG4	HP:0002059	Cerebral atrophy
25839	COG4	HP:0002119	Ventriculomegaly
25839	COG4	HP:0004798	Recurrent infection of the gastrointestinal tract
25839	COG4	HP:0002176	Spinal cord compression
25839	COG4	HP:0011833	Overhanging nasal tip
25839	COG4	HP:0010580	Enlarged epiphyses
25839	COG4	HP:0003577	Congenital onset
25839	COG4	HP:0002240	Hepatomegaly
25839	COG4	HP:0002254	Intermittent diarrhea
25839	COG4	HP:0002205	Recurrent respiratory infections
25839	COG4	HP:0011968	Feeding difficulties
25839	COG4	HP:0001015	Prominent superficial veins
25839	COG4	HP:0200055	Small hand
25839	COG4	HP:0010743	Short metatarsal
25839	COG4	HP:0004279	Short palm
25839	COG4	HP:0006892	Frontotemporal cerebral atrophy
25839	COG4	HP:0000639	Nystagmus
25839	COG4	HP:0010049	Short metacarpal
25839	COG4	HP:0000662	Nyctalopia
25839	COG4	HP:0001999	Abnormal facial shape
25839	COG4	HP:0004322	Short stature
25839	COG4	HP:0009193	Pseudoepiphyses of the metacarpals
25839	COG4	HP:0003067	Madelung deformity
25839	COG4	HP:0003015	Flared metaphysis
25839	COG4	HP:0000767	Pectus excavatum
25839	COG4	HP:0000768	Pectus carinatum
25839	COG4	HP:0000737	Irritability
25839	COG4	HP:0000750	Delayed speech and language development
25839	COG4	HP:0003124	Hypercholesterolemia
25839	COG4	HP:0000926	Platyspondyly
25839	COG4	HP:0003155	Elevated circulating alkaline phosphatase concentration
25839	COG4	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
25839	COG4	HP:0003256	Abnormality of the coagulation cascade
25839	COG4	HP:0004582	Irregularity of vertebral bodies
25839	COG4	HP:0040187	Neonatal sepsis
25839	COG4	HP:0000260	Wide anterior fontanel
25839	COG4	HP:0000272	Malar flattening
25839	COG4	HP:0006442	Hypoplasia of proximal fibula
25839	COG4	HP:0006391	Overtubulated long bones
25839	COG4	HP:0000252	Microcephaly
25839	COG4	HP:0001531	Failure to thrive in infancy
25839	COG4	HP:0001508	Failure to thrive
25839	COG4	HP:0001511	Intrauterine growth retardation
25839	COG4	HP:0001510	Growth delay
25839	COG4	HP:0012358	Abnormal protein O-linked glycosylation
25839	COG4	HP:0006583	Fatal liver failure in infancy
25839	COG4	HP:0002910	Elevated hepatic transaminase
25839	COG4	HP:0000365	Hearing impairment
25839	COG4	HP:0012347	Abnormal protein N-linked glycosylation
25839	COG4	HP:0000340	Sloping forehead
25839	COG4	HP:0000347	Micrognathia
25839	COG4	HP:0012301	Type II transferrin isoform profile
25839	COG4	HP:0011172	Complex febrile seizure
25839	COG4	HP:0005328	Progeroid facial appearance
25839	COG4	HP:0000407	Sensorineural hearing impairment
25839	COG4	HP:0000444	Convex nasal ridge
25839	COG4	HP:0000446	Narrow nasal bridge
25839	COG4	HP:0001744	Splenomegaly
25839	COG4	HP:0001762	Talipes equinovarus
25839	COG4	HP:0000518	Cataract
25839	COG4	HP:0000520	Proptosis
25839	COG4	HP:0000592	Blue sclerae
25839	COG4	HP:0011220	Prominent forehead
25839	COG4	HP:0001873	Thrombocytopenia
25839	COG4	HP:0001875	Neutropenia
25861	WHRN	HP:0008555	Absent vestibular function
25861	WHRN	HP:0001251	Ataxia
25861	WHRN	HP:0007360	Aplasia/Hypoplasia of the cerebellum
25861	WHRN	HP:0000007	Autosomal recessive inheritance
25861	WHRN	HP:0012157	Subcortical cerebral atrophy
25861	WHRN	HP:0002120	Cerebral cortical atrophy
25861	WHRN	HP:0003577	Congenital onset
25861	WHRN	HP:0100753	Schizophrenia
25861	WHRN	HP:0000639	Nystagmus
25861	WHRN	HP:0000682	Abnormal dental enamel morphology
25861	WHRN	HP:0000691	Microdontia
25861	WHRN	HP:0000662	Nyctalopia
25861	WHRN	HP:0000670	Carious teeth
25861	WHRN	HP:0000738	Hallucinations
25861	WHRN	HP:0000739	Anxiety
25861	WHRN	HP:0000716	Depression
25861	WHRN	HP:0007730	Iris hypopigmentation
25861	WHRN	HP:0011073	Abnormality of dental color
25861	WHRN	HP:0012377	Hemianopia
25861	WHRN	HP:0000365	Hearing impairment
25861	WHRN	HP:0000359	Abnormality of the inner ear
25861	WHRN	HP:0000407	Sensorineural hearing impairment
25861	WHRN	HP:0001751	Abnormal vestibular function
25861	WHRN	HP:0000518	Cataract
25861	WHRN	HP:0000510	Rod-cone dystrophy
25861	WHRN	HP:0000512	Abnormal electroretinogram
25861	WHRN	HP:0000575	Scotoma
25861	WHRN	HP:0000572	Visual loss
25861	WHRN	HP:0000545	Myopia
25871	NEPRO	HP:0001156	Brachydactyly
25871	NEPRO	HP:0009890	High anterior hairline
25871	NEPRO	HP:0001290	Generalized hypotonia
25871	NEPRO	HP:0001270	Motor delay
25871	NEPRO	HP:0001263	Global developmental delay
25871	NEPRO	HP:0001382	Joint hypermobility
25871	NEPRO	HP:0001357	Plagiocephaly
25871	NEPRO	HP:0000007	Autosomal recessive inheritance
25871	NEPRO	HP:0002020	Gastroesophageal reflux
25871	NEPRO	HP:0011800	Midface retrusion
25871	NEPRO	HP:0003423	Thoracolumbar kyphoscoliosis
25871	NEPRO	HP:0002176	Spinal cord compression
25871	NEPRO	HP:0002209	Sparse scalp hair
25871	NEPRO	HP:0002205	Recurrent respiratory infections
25871	NEPRO	HP:0011968	Feeding difficulties
25871	NEPRO	HP:0003510	Severe short stature
25871	NEPRO	HP:0009844	Broad middle phalanx of finger
25871	NEPRO	HP:0010049	Short metacarpal
25871	NEPRO	HP:0000677	Oligodontia
25871	NEPRO	HP:0003021	Metaphyseal cupping
25871	NEPRO	HP:0000767	Pectus excavatum
25871	NEPRO	HP:0000774	Narrow chest
25871	NEPRO	HP:0000926	Platyspondyly
25871	NEPRO	HP:0003177	Squared iliac bones
25871	NEPRO	HP:0004568	Beaking of vertebral bodies
25871	NEPRO	HP:0000973	Cutis laxa
25871	NEPRO	HP:0005819	Short middle phalanx of finger
25871	NEPRO	HP:0000278	Retrognathia
25871	NEPRO	HP:0000260	Wide anterior fontanel
25871	NEPRO	HP:0002857	Genu valgum
25871	NEPRO	HP:0030043	Hip subluxation
25871	NEPRO	HP:0002980	Femoral bowing
25871	NEPRO	HP:0005280	Depressed nasal bridge
25871	NEPRO	HP:0001792	Small nail
25871	NEPRO	HP:0004060	Trident hand
25871	NEPRO	HP:0011229	Broad eyebrow
25885	POLR1A	HP:0009892	Anotia
25885	POLR1A	HP:0008551	Microtia
25885	POLR1A	HP:0008807	Acetabular dysplasia
25885	POLR1A	HP:0000006	Autosomal dominant inheritance
25885	POLR1A	HP:0000175	Cleft palate
25885	POLR1A	HP:0000174	Abnormal palate morphology
25885	POLR1A	HP:0011800	Midface retrusion
25885	POLR1A	HP:0003577	Congenital onset
25885	POLR1A	HP:0000636	Upper eyelid coloboma
25885	POLR1A	HP:0000652	Lower eyelid coloboma
25885	POLR1A	HP:0004325	Decreased body weight
25885	POLR1A	HP:0004322	Short stature
25885	POLR1A	HP:0012745	Short palpebral fissure
25885	POLR1A	HP:0003196	Short nose
25885	POLR1A	HP:0034260	Aplastic zygomatic arch
25885	POLR1A	HP:0004502	Bilateral choanal atresia
25885	POLR1A	HP:0000278	Retrognathia
25885	POLR1A	HP:0000252	Microcephaly
25885	POLR1A	HP:0001671	Abnormal cardiac septum morphology
25885	POLR1A	HP:0000347	Micrognathia
25885	POLR1A	HP:0002980	Femoral bowing
25885	POLR1A	HP:0000316	Hypertelorism
25885	POLR1A	HP:0001643	Patent ductus arteriosus
25885	POLR1A	HP:0000327	Hypoplasia of the maxilla
25885	POLR1A	HP:0030307	Flared lower limb metaphysis
25885	POLR1A	HP:0000400	Macrotia
25885	POLR1A	HP:0000478	Abnormality of the eye
25885	POLR1A	HP:0000494	Downslanted palpebral fissures
25885	POLR1A	HP:0000453	Choanal atresia
25885	POLR1A	HP:0000431	Wide nasal bridge
25885	POLR1A	HP:0000426	Prominent nasal bridge
25885	POLR1A	HP:0000504	Abnormality of vision
25885	POLR1A	HP:0011224	Ablepharon
25886	POC1A	HP:0001156	Brachydactyly
25886	POC1A	HP:0009882	Short distal phalanx of finger
25886	POC1A	HP:0008551	Microtia
25886	POC1A	HP:0001290	Generalized hypotonia
25886	POC1A	HP:0001252	Hypotonia
25886	POC1A	HP:0001263	Global developmental delay
25886	POC1A	HP:0100864	Short femoral neck
25886	POC1A	HP:0002515	Waddling gait
25886	POC1A	HP:0000060	Clitoral hypoplasia
25886	POC1A	HP:0008839	Hypoplastic pelvis
25886	POC1A	HP:0000007	Autosomal recessive inheritance
25886	POC1A	HP:0008905	Rhizomelia
25886	POC1A	HP:0000164	Abnormality of the dentition
25886	POC1A	HP:0002164	Nail dysplasia
25886	POC1A	HP:0010579	Cone-shaped epiphysis
25886	POC1A	HP:0002376	Developmental regression
25886	POC1A	HP:0200055	Small hand
25886	POC1A	HP:0010743	Short metatarsal
25886	POC1A	HP:0009765	Low hanging columella
25886	POC1A	HP:0010049	Short metacarpal
25886	POC1A	HP:0000798	Oligospermia
25886	POC1A	HP:0003187	Breast hypoplasia
25886	POC1A	HP:0000819	Diabetes mellitus
25886	POC1A	HP:0004590	Hypoplastic sacrum
25886	POC1A	HP:0000938	Osteopenia
25886	POC1A	HP:0008070	Sparse hair
25886	POC1A	HP:0000256	Macrocephaly
25886	POC1A	HP:0000276	Long face
25886	POC1A	HP:0030084	Clinodactyly
25886	POC1A	HP:0000252	Microcephaly
25886	POC1A	HP:0001508	Failure to thrive
25886	POC1A	HP:0001518	Small for gestational age
25886	POC1A	HP:0001510	Growth delay
25886	POC1A	HP:0000358	Posteriorly rotated ears
25886	POC1A	HP:0000369	Low-set ears
25886	POC1A	HP:0000343	Long philtrum
25886	POC1A	HP:0000348	High forehead
25886	POC1A	HP:0000316	Hypertelorism
25886	POC1A	HP:0000325	Triangular face
25886	POC1A	HP:0001620	High pitched voice
25886	POC1A	HP:0000307	Pointed chin
25886	POC1A	HP:0000303	Mandibular prognathia
25886	POC1A	HP:0000490	Deeply set eye
25886	POC1A	HP:0001792	Small nail
25886	POC1A	HP:0000455	Broad nasal tip
25886	POC1A	HP:0001773	Short foot
25886	POC1A	HP:0000448	Prominent nose
25886	POC1A	HP:0011220	Prominent forehead
25894	PLEKHG4	HP:0002495	Impaired vibratory sensation
25894	PLEKHG4	HP:0001288	Gait disturbance
25894	PLEKHG4	HP:0001284	Areflexia
25894	PLEKHG4	HP:0001251	Ataxia
25894	PLEKHG4	HP:0001260	Dysarthria
25894	PLEKHG4	HP:0003390	Sensory axonal neuropathy
25894	PLEKHG4	HP:0003438	Absent Achilles reflex
25894	PLEKHG4	HP:0007002	Motor axonal neuropathy
25894	PLEKHG4	HP:0002333	Motor deterioration
25894	PLEKHG4	HP:0010830	Impaired tactile sensation
25894	PLEKHG4	HP:0010831	Impaired proprioception
25894	PLEKHG4	HP:0009830	Peripheral neuropathy
25913	POT1	HP:0003764	Nevus
25913	POT1	HP:0003829	Typified by incomplete penetrance
25913	POT1	HP:0000006	Autosomal dominant inheritance
25913	POT1	HP:0001480	Freckling
25913	POT1	HP:0100526	Neoplasm of the lung
25913	POT1	HP:0002071	Abnormality of extrapyramidal motor function
25913	POT1	HP:0009592	Astrocytoma
25913	POT1	HP:0003581	Adult onset
25913	POT1	HP:0100763	Abnormality of the lymphatic system
25913	POT1	HP:0009733	Glioma
25913	POT1	HP:0009726	Renal neoplasm
25913	POT1	HP:0001909	Leukemia
25913	POT1	HP:0100013	Neoplasm of the breast
25913	POT1	HP:0000958	Dry skin
25913	POT1	HP:0001595	Abnormal hair morphology
25913	POT1	HP:0031413	Short telomere length
25913	POT1	HP:0002894	Neoplasm of the pancreas
25913	POT1	HP:0002861	Melanoma
25913	POT1	HP:0000488	Retinopathy
25913	POT1	HP:0006753	Neoplasm of the stomach
25914	RTTN	HP:0002487	Hyperkinetic movements
25914	RTTN	HP:0002465	Poor speech
25914	RTTN	HP:0008619	Bilateral sensorineural hearing impairment
25914	RTTN	HP:0009905	Thin ear helix
25914	RTTN	HP:0007256	Abnormal pyramidal sign
25914	RTTN	HP:0010864	Intellectual disability, severe
25914	RTTN	HP:0009879	Simplified gyral pattern
25914	RTTN	HP:0001276	Hypertonia
25914	RTTN	HP:0001272	Cerebellar atrophy
25914	RTTN	HP:0001274	Agenesis of corpus callosum
25914	RTTN	HP:0001250	Seizure
25914	RTTN	HP:0001260	Dysarthria
25914	RTTN	HP:0001257	Spasticity
25914	RTTN	HP:0007333	Hypoplasia of the frontal lobes
25914	RTTN	HP:0002539	Cortical dysplasia
25914	RTTN	HP:0002518	Abnormal periventricular white matter morphology
25914	RTTN	HP:0001371	Flexion contracture
25914	RTTN	HP:0000047	Hypospadias
25914	RTTN	HP:0001363	Craniosynostosis
25914	RTTN	HP:0000028	Cryptorchidism
25914	RTTN	HP:0001339	Lissencephaly
25914	RTTN	HP:0000007	Autosomal recessive inheritance
25914	RTTN	HP:0001302	Pachygyria
25914	RTTN	HP:0001321	Cerebellar hypoplasia
25914	RTTN	HP:0000160	Narrow mouth
25914	RTTN	HP:0007633	Bilateral microphthalmos
25914	RTTN	HP:0000122	Unilateral renal agenesis
25914	RTTN	HP:0012110	Hypoplasia of the pons
25914	RTTN	HP:0000125	Pelvic kidney
25914	RTTN	HP:0002079	Hypoplasia of the corpus callosum
25914	RTTN	HP:0002059	Cerebral atrophy
25914	RTTN	HP:0002119	Ventriculomegaly
25914	RTTN	HP:0002126	Polymicrogyria
25914	RTTN	HP:0004742	Abnormal renal collecting system morphology
25914	RTTN	HP:0100490	Camptodactyly of finger
25914	RTTN	HP:0100702	Arachnoid cyst
25914	RTTN	HP:0100716	Self-injurious behavior
25914	RTTN	HP:0002247	Duodenal atresia
25914	RTTN	HP:0010705	4-5 finger syndactyly
25914	RTTN	HP:0010692	2-5 finger syndactyly
25914	RTTN	HP:0003510	Severe short stature
25914	RTTN	HP:0003502	Mild short stature
25914	RTTN	HP:0002360	Sleep disturbance
25914	RTTN	HP:0002342	Intellectual disability, moderate
25914	RTTN	HP:0002353	EEG abnormality
25914	RTTN	HP:0007165	Periventricular heterotopia
25914	RTTN	HP:0010767	Sacrococcygeal pilonidal abnormality
25914	RTTN	HP:0006870	Lobar holoprosencephaly
25914	RTTN	HP:0006872	Cerebral hypoplasia
25914	RTTN	HP:0000609	Optic nerve hypoplasia
25914	RTTN	HP:0000601	Hypotelorism
25914	RTTN	HP:0009062	Infantile axial hypotonia
25914	RTTN	HP:0011344	Severe global developmental delay
25914	RTTN	HP:0001999	Abnormal facial shape
25914	RTTN	HP:0004325	Decreased body weight
25914	RTTN	HP:0006989	Dysplastic corpus callosum
25914	RTTN	HP:0004322	Short stature
25914	RTTN	HP:0006955	Olivopontocerebellar hypoplasia
25914	RTTN	HP:0000733	Abnormal repetitive mannerisms
25914	RTTN	HP:0000750	Delayed speech and language development
25914	RTTN	HP:0000883	Thin ribs
25914	RTTN	HP:0000964	Eczema
25914	RTTN	HP:0012294	Abnormal occipital bone morphology
25914	RTTN	HP:0000278	Retrognathia
25914	RTTN	HP:0006466	Ankle flexion contracture
25914	RTTN	HP:0002828	Multiple joint contractures
25914	RTTN	HP:0006380	Knee flexion contracture
25914	RTTN	HP:0000252	Microcephaly
25914	RTTN	HP:0001525	Severe failure to thrive
25914	RTTN	HP:0001511	Intrauterine growth retardation
25914	RTTN	HP:0007843	Attenuation of retinal blood vessels
25914	RTTN	HP:0001696	Situs inversus totalis
25914	RTTN	HP:0000368	Low-set, posteriorly rotated ears
25914	RTTN	HP:0000340	Sloping forehead
25914	RTTN	HP:0000319	Smooth philtrum
25914	RTTN	HP:0000315	Abnormality of the orbital region
25914	RTTN	HP:0000308	Microretrognathia
25914	RTTN	HP:0030260	Microphallus
25914	RTTN	HP:0000431	Wide nasal bridge
25914	RTTN	HP:0000426	Prominent nasal bridge
25914	RTTN	HP:0005487	Prominent metopic ridge
25914	RTTN	HP:0000520	Proptosis
25914	RTTN	HP:0000582	Upslanted palpebral fissure
25914	RTTN	HP:0000568	Microphthalmia
25914	RTTN	HP:0000543	Optic disc pallor
25915	NDUFAF3	HP:0025116	Fetal distress
25915	NDUFAF3	HP:0002490	Increased CSF lactate
25915	NDUFAF3	HP:0001138	Optic neuropathy
25915	NDUFAF3	HP:0002453	Abnormal globus pallidus morphology
25915	NDUFAF3	HP:0002421	Poor head control
25915	NDUFAF3	HP:0002415	Leukodystrophy
25915	NDUFAF3	HP:0003737	Mitochondrial myopathy
25915	NDUFAF3	HP:0001298	Encephalopathy
25915	NDUFAF3	HP:0001276	Hypertonia
25915	NDUFAF3	HP:0001268	Mental deterioration
25915	NDUFAF3	HP:0001254	Lethargy
25915	NDUFAF3	HP:0001250	Seizure
25915	NDUFAF3	HP:0001252	Hypotonia
25915	NDUFAF3	HP:0001251	Ataxia
25915	NDUFAF3	HP:0001249	Intellectual disability
25915	NDUFAF3	HP:0001263	Global developmental delay
25915	NDUFAF3	HP:0001257	Spasticity
25915	NDUFAF3	HP:0002538	Abnormal cerebral cortex morphology
25915	NDUFAF3	HP:0000091	Abnormal renal tubule morphology
25915	NDUFAF3	HP:0000072	Hydroureter
25915	NDUFAF3	HP:0001347	Hyperreflexia
25915	NDUFAF3	HP:0001332	Dystonia
25915	NDUFAF3	HP:0001324	Muscle weakness
25915	NDUFAF3	HP:0000007	Autosomal recessive inheritance
25915	NDUFAF3	HP:0001336	Myoclonus
25915	NDUFAF3	HP:0001488	Bilateral ptosis
25915	NDUFAF3	HP:0008947	Infantile muscular hypotonia
25915	NDUFAF3	HP:0000114	Proximal tubulopathy
25915	NDUFAF3	HP:0000126	Hydronephrosis
25915	NDUFAF3	HP:0000110	Renal dysplasia
25915	NDUFAF3	HP:0000104	Renal agenesis
25915	NDUFAF3	HP:0001410	Decreased liver function
25915	NDUFAF3	HP:0002033	Poor suck
25915	NDUFAF3	HP:0002015	Dysphagia
25915	NDUFAF3	HP:0002013	Vomiting
25915	NDUFAF3	HP:0002086	Abnormality of the respiratory system
25915	NDUFAF3	HP:0002098	Respiratory distress
25915	NDUFAF3	HP:0002093	Respiratory insufficiency
25915	NDUFAF3	HP:0002072	Chorea
25915	NDUFAF3	HP:0002151	Increased serum lactate
25915	NDUFAF3	HP:0002119	Ventriculomegaly
25915	NDUFAF3	HP:0002104	Apnea
25915	NDUFAF3	HP:0011923	Decreased activity of mitochondrial complex I
25915	NDUFAF3	HP:0003593	Infantile onset
25915	NDUFAF3	HP:0002240	Hepatomegaly
25915	NDUFAF3	HP:0003542	Increased serum pyruvate
25915	NDUFAF3	HP:0200147	Neuronal loss in basal ganglia
25915	NDUFAF3	HP:0002283	Global brain atrophy
25915	NDUFAF3	HP:0010663	Abnormality of thalamus morphology
25915	NDUFAF3	HP:0011968	Feeding difficulties
25915	NDUFAF3	HP:0008316	Abnormal mitochondria in muscle tissue
25915	NDUFAF3	HP:0002363	Abnormal brainstem morphology
25915	NDUFAF3	HP:0002376	Developmental regression
25915	NDUFAF3	HP:0002339	Abnormal caudate nucleus morphology
25915	NDUFAF3	HP:0002352	Leukoencephalopathy
25915	NDUFAF3	HP:0007204	Diffuse white matter abnormalities
25915	NDUFAF3	HP:0100660	Dyskinesia
25915	NDUFAF3	HP:0009830	Peripheral neuropathy
25915	NDUFAF3	HP:0025045	Abnormal brain lactate level by MRS
25915	NDUFAF3	HP:0007159	Fluctuations in consciousness
25915	NDUFAF3	HP:0007110	Central hypoventilation
25915	NDUFAF3	HP:0003623	Neonatal onset
25915	NDUFAF3	HP:0000639	Nystagmus
25915	NDUFAF3	HP:0000648	Optic atrophy
25915	NDUFAF3	HP:0001947	Renal tubular acidosis
25915	NDUFAF3	HP:0000618	Blindness
25915	NDUFAF3	HP:0001943	Hypoglycemia
25915	NDUFAF3	HP:0000602	Ophthalmoplegia
25915	NDUFAF3	HP:0001903	Anemia
25915	NDUFAF3	HP:0004305	Involuntary movements
25915	NDUFAF3	HP:0006999	Basal ganglia gliosis
25915	NDUFAF3	HP:0012748	Focal T2 hyperintense brainstem lesion
25915	NDUFAF3	HP:0012707	Elevated brain lactate level by MRS
25915	NDUFAF3	HP:0012758	Neurodevelopmental delay
25915	NDUFAF3	HP:0003128	Lactic acidosis
25915	NDUFAF3	HP:0000819	Diabetes mellitus
25915	NDUFAF3	HP:0000817	Reduced eye contact
25915	NDUFAF3	HP:0000998	Hypertrichosis
25915	NDUFAF3	HP:0007704	Paroxysmal involuntary eye movements
25915	NDUFAF3	HP:0000260	Wide anterior fontanel
25915	NDUFAF3	HP:0000256	Macrocephaly
25915	NDUFAF3	HP:0030085	Abnormal CSF lactate concentration
25915	NDUFAF3	HP:0000252	Microcephaly
25915	NDUFAF3	HP:0002878	Respiratory failure
25915	NDUFAF3	HP:0001522	Death in infancy
25915	NDUFAF3	HP:0001508	Failure to thrive
25915	NDUFAF3	HP:0001511	Intrauterine growth retardation
25915	NDUFAF3	HP:0000365	Hearing impairment
25915	NDUFAF3	HP:0032794	Myoclonic seizure
25915	NDUFAF3	HP:0001642	Pulmonic stenosis
25915	NDUFAF3	HP:0001644	Dilated cardiomyopathy
25915	NDUFAF3	HP:0001653	Mitral regurgitation
25915	NDUFAF3	HP:0001626	Abnormality of the cardiovascular system
25915	NDUFAF3	HP:0001639	Hypertrophic cardiomyopathy
25915	NDUFAF3	HP:0001635	Congestive heart failure
25915	NDUFAF3	HP:0007941	Limited extraocular movements
25915	NDUFAF3	HP:0000407	Sensorineural hearing impairment
25915	NDUFAF3	HP:0000486	Strabismus
25915	NDUFAF3	HP:0031546	Cardiac conduction abnormality
25915	NDUFAF3	HP:0000496	Abnormality of eye movement
25915	NDUFAF3	HP:0000488	Retinopathy
25915	NDUFAF3	HP:0000508	Ptosis
25915	NDUFAF3	HP:0000505	Visual impairment
25915	NDUFAF3	HP:0000570	Abnormal saccadic eye movements
25915	NDUFAF3	HP:0000543	Optic disc pallor
25923	ATL3	HP:0002460	Distal muscle weakness
25923	ATL3	HP:0007328	Impaired pain sensation
25923	ATL3	HP:0031060	Impaired ability to dress oneself
25923	ATL3	HP:0002540	Inability to walk
25923	ATL3	HP:0007550	Hypohidrosis or hyperhidrosis
25923	ATL3	HP:0001324	Muscle weakness
25923	ATL3	HP:0000006	Autosomal dominant inheritance
25923	ATL3	HP:0033748	Hypoesthesia
25923	ATL3	HP:0002600	Hyporeflexia of lower limbs
25923	ATL3	HP:0002756	Pathologic fracture
25923	ATL3	HP:0002754	Osteomyelitis
25923	ATL3	HP:0002020	Gastroesophageal reflux
25923	ATL3	HP:0003390	Sensory axonal neuropathy
25923	ATL3	HP:0003376	Steppage gait
25923	ATL3	HP:0002141	Gait imbalance
25923	ATL3	HP:0002270	Abnormality of the autonomic nervous system
25923	ATL3	HP:0007021	Pain insensitivity
25923	ATL3	HP:0007002	Motor axonal neuropathy
25923	ATL3	HP:0007078	Decreased amplitude of sensory action potentials
25923	ATL3	HP:0001058	Poor wound healing
25923	ATL3	HP:0003693	Distal amyotrophy
25923	ATL3	HP:0001026	Penetrating foot ulcers
25923	ATL3	HP:0010834	Trophic changes related to pain
25923	ATL3	HP:0010829	Impaired temperature sensation
25923	ATL3	HP:0200042	Skin ulcer
25923	ATL3	HP:0009771	Osteolytic defects of the phalanges of the hand
25923	ATL3	HP:0009763	Limb pain
25923	ATL3	HP:0003621	Juvenile onset
25923	ATL3	HP:0009027	Foot dorsiflexor weakness
25923	ATL3	HP:0041162	Metatarsal fracture
25923	ATL3	HP:0006937	Impaired distal tactile sensation
25923	ATL3	HP:0012735	Cough
25923	ATL3	HP:0011462	Young adult onset
25923	ATL3	HP:0100287	EMG: slow motor conduction
25923	ATL3	HP:0000962	Hyperkeratosis
25923	ATL3	HP:0002821	Neuropathic arthropathy
25923	ATL3	HP:0002936	Distal sensory impairment
25923	ATL3	HP:0000365	Hearing impairment
25923	ATL3	HP:0001822	Hallux valgus
25929	GEMIN5	HP:0001272	Cerebellar atrophy
25929	GEMIN5	HP:0001270	Motor delay
25929	GEMIN5	HP:0001284	Areflexia
25929	GEMIN5	HP:0001252	Hypotonia
25929	GEMIN5	HP:0001251	Ataxia
25929	GEMIN5	HP:0001263	Global developmental delay
25929	GEMIN5	HP:0002540	Inability to walk
25929	GEMIN5	HP:0001348	Brisk reflexes
25929	GEMIN5	HP:0000007	Autosomal recessive inheritance
25929	GEMIN5	HP:0003593	Infantile onset
25929	GEMIN5	HP:0003577	Congenital onset
25929	GEMIN5	HP:0003676	Progressive
25929	GEMIN5	HP:0000750	Delayed speech and language development
25929	GEMIN5	HP:0011463	Childhood onset
25929	GEMIN5	HP:0012389	Appendicular hypotonia
25930	PTPN23	HP:0007281	Developmental stagnation
25930	PTPN23	HP:0001298	Encephalopathy
25930	PTPN23	HP:0001276	Hypertonia
25930	PTPN23	HP:0001257	Spasticity
25930	PTPN23	HP:0002521	Hypsarrhythmia
25930	PTPN23	HP:0000007	Autosomal recessive inheritance
25930	PTPN23	HP:0008936	Axial hypotonia
25930	PTPN23	HP:0025404	Abnormal visual fixation
25930	PTPN23	HP:0002033	Poor suck
25930	PTPN23	HP:0002079	Hypoplasia of the corpus callosum
25930	PTPN23	HP:0000609	Optic nerve hypoplasia
25930	PTPN23	HP:0006956	Lateral ventricle dilatation
25930	PTPN23	HP:0012736	Profound global developmental delay
25930	PTPN23	HP:0011471	Gastrostomy tube feeding in infancy
25930	PTPN23	HP:0000252	Microcephaly
25930	PTPN23	HP:0032792	Tonic seizure
25930	PTPN23	HP:0032794	Myoclonic seizure
25930	PTPN23	HP:0001623	Breech presentation
25930	PTPN23	HP:0011153	Focal motor seizure
25930	PTPN23	HP:0012469	Infantile spasms
25939	SAMHD1	HP:0007321	Deep white matter hypodensities
25939	SAMHD1	HP:0007256	Abnormal pyramidal sign
25939	SAMHD1	HP:0007229	Intracerebral periventricular calcifications
25939	SAMHD1	HP:0002415	Leukodystrophy
25939	SAMHD1	HP:0001276	Hypertonia
25939	SAMHD1	HP:0001250	Seizure
25939	SAMHD1	HP:0001263	Global developmental delay
25939	SAMHD1	HP:0001257	Spasticity
25939	SAMHD1	HP:0002514	Cerebral calcification
25939	SAMHD1	HP:0002510	Spastic tetraplegia
25939	SAMHD1	HP:0001371	Flexion contracture
25939	SAMHD1	HP:0001369	Arthritis
25939	SAMHD1	HP:0000054	Micropenis
25939	SAMHD1	HP:0001357	Plagiocephaly
25939	SAMHD1	HP:0008872	Feeding difficulties in infancy
25939	SAMHD1	HP:0001332	Dystonia
25939	SAMHD1	HP:0000007	Autosomal recessive inheritance
25939	SAMHD1	HP:0001337	Tremor
25939	SAMHD1	HP:0000006	Autosomal dominant inheritance
25939	SAMHD1	HP:0002650	Scoliosis
25939	SAMHD1	HP:0008936	Axial hypotonia
25939	SAMHD1	HP:0001433	Hepatosplenomegaly
25939	SAMHD1	HP:0002079	Hypoplasia of the corpus callosum
25939	SAMHD1	HP:0002071	Abnormality of extrapyramidal motor function
25939	SAMHD1	HP:0100578	Lipoatrophy
25939	SAMHD1	HP:0002139	Arrhinencephaly
25939	SAMHD1	HP:0002119	Ventriculomegaly
25939	SAMHD1	HP:0002135	Basal ganglia calcification
25939	SAMHD1	HP:0002132	Porencephalic cyst
25939	SAMHD1	HP:0002187	Intellectual disability, profound
25939	SAMHD1	HP:0011834	Moyamoya phenomenon
25939	SAMHD1	HP:0003593	Infantile onset
25939	SAMHD1	HP:0003577	Congenital onset
25939	SAMHD1	HP:0003552	Muscle stiffness
25939	SAMHD1	HP:0200149	CSF lymphocytic pleiocytosis
25939	SAMHD1	HP:0009709	Increased CSF interferon alpha
25939	SAMHD1	HP:0009710	Chilblains
25939	SAMHD1	HP:0009704	Chronic CSF lymphocytosis
25939	SAMHD1	HP:0004809	Neonatal alloimmune thrombocytopenia
25939	SAMHD1	HP:0007076	Extrapyramidal muscular rigidity
25939	SAMHD1	HP:0007052	Multifocal cerebral white matter abnormalities
25939	SAMHD1	HP:0001063	Acrocyanosis
25939	SAMHD1	HP:0002376	Developmental regression
25939	SAMHD1	HP:0002371	Loss of speech
25939	SAMHD1	HP:0002355	Difficulty walking
25939	SAMHD1	HP:0002352	Leukoencephalopathy
25939	SAMHD1	HP:0002315	Headache
25939	SAMHD1	HP:0002313	Spastic paraparesis
25939	SAMHD1	HP:0100614	Myositis
25939	SAMHD1	HP:0001087	Developmental glaucoma
25939	SAMHD1	HP:0007108	Demyelinating peripheral neuropathy
25939	SAMHD1	HP:0004963	Calcification of the aorta
25939	SAMHD1	HP:0003623	Neonatal onset
25939	SAMHD1	HP:0004942	Aortic aneurysm
25939	SAMHD1	HP:0005550	Chronic lymphatic leukemia
25939	SAMHD1	HP:0000639	Nystagmus
25939	SAMHD1	HP:0001955	Unexplained fevers
25939	SAMHD1	HP:0000625	Eyelid coloboma
25939	SAMHD1	HP:0004322	Short stature
25939	SAMHD1	HP:0030674	Antenatal onset
25939	SAMHD1	HP:0004374	Hemiplegia/hemiparesis
25939	SAMHD1	HP:0003040	Arthropathy
25939	SAMHD1	HP:0000737	Irritability
25939	SAMHD1	HP:0011463	Childhood onset
25939	SAMHD1	HP:0000819	Diabetes mellitus
25939	SAMHD1	HP:0000821	Hypothyroidism
25939	SAMHD1	HP:0030880	Raynaud phenomenon
25939	SAMHD1	HP:0000992	Cutaneous photosensitivity
25939	SAMHD1	HP:0000958	Dry skin
25939	SAMHD1	HP:0000965	Cutis marmorata
25939	SAMHD1	HP:0040140	Degeneration of the striatum
25939	SAMHD1	HP:0040189	Scaling skin
25939	SAMHD1	HP:0002828	Multiple joint contractures
25939	SAMHD1	HP:0000252	Microcephaly
25939	SAMHD1	HP:0030038	Enchondroma
25939	SAMHD1	HP:0006579	Prolonged neonatal jaundice
25939	SAMHD1	HP:0001609	Hoarse voice
25939	SAMHD1	HP:0002910	Elevated hepatic transaminase
25939	SAMHD1	HP:0000369	Low-set ears
25939	SAMHD1	HP:0002960	Autoimmunity
25939	SAMHD1	HP:0001640	Cardiomegaly
25939	SAMHD1	HP:0001639	Hypertrophic cardiomyopathy
25939	SAMHD1	HP:0012490	Panniculitis
25939	SAMHD1	HP:0000496	Abnormality of eye movement
25939	SAMHD1	HP:0012444	Brain atrophy
25939	SAMHD1	HP:0000444	Convex nasal ridge
25939	SAMHD1	HP:0000508	Ptosis
25939	SAMHD1	HP:0000501	Glaucoma
25939	SAMHD1	HP:0030356	Increased circulating interferon-gamma concentration
25939	SAMHD1	HP:0001873	Thrombocytopenia
25942	SIN3A	HP:0001172	Abnormal thumb morphology
25942	SIN3A	HP:0001156	Brachydactyly
25942	SIN3A	HP:0001166	Arachnodactyly
25942	SIN3A	HP:0002475	Myelomeningocele
25942	SIN3A	HP:0009916	Anisocoria
25942	SIN3A	HP:0009909	Uplifted earlobe
25942	SIN3A	HP:0009890	High anterior hairline
25942	SIN3A	HP:0010862	Delayed fine motor development
25942	SIN3A	HP:0010864	Intellectual disability, severe
25942	SIN3A	HP:0003745	Sporadic
25942	SIN3A	HP:0001270	Motor delay
25942	SIN3A	HP:0001256	Intellectual disability, mild
25942	SIN3A	HP:0001250	Seizure
25942	SIN3A	HP:0001252	Hypotonia
25942	SIN3A	HP:0001249	Intellectual disability
25942	SIN3A	HP:0001263	Global developmental delay
25942	SIN3A	HP:0410263	Brain imaging abnormality
25942	SIN3A	HP:0002539	Cortical dysplasia
25942	SIN3A	HP:0002500	Abnormal cerebral white matter morphology
25942	SIN3A	HP:0001388	Joint laxity
25942	SIN3A	HP:0001382	Joint hypermobility
25942	SIN3A	HP:0000047	Hypospadias
25942	SIN3A	HP:0000023	Inguinal hernia
25942	SIN3A	HP:0000028	Cryptorchidism
25942	SIN3A	HP:0008897	Postnatal growth retardation
25942	SIN3A	HP:0008872	Feeding difficulties in infancy
25942	SIN3A	HP:0000006	Autosomal dominant inheritance
25942	SIN3A	HP:0002650	Scoliosis
25942	SIN3A	HP:0000179	Thick lower lip vermilion
25942	SIN3A	HP:0000194	Open mouth
25942	SIN3A	HP:0000164	Abnormality of the dentition
25942	SIN3A	HP:0000160	Narrow mouth
25942	SIN3A	HP:0000174	Abnormal palate morphology
25942	SIN3A	HP:0002705	High, narrow palate
25942	SIN3A	HP:0002750	Delayed skeletal maturation
25942	SIN3A	HP:0002719	Recurrent infections
25942	SIN3A	HP:0002023	Anal atresia
25942	SIN3A	HP:0002020	Gastroesophageal reflux
25942	SIN3A	HP:0002019	Constipation
25942	SIN3A	HP:0002007	Frontal bossing
25942	SIN3A	HP:0005978	Type II diabetes mellitus
25942	SIN3A	HP:0002079	Hypoplasia of the corpus callosum
25942	SIN3A	HP:0009466	Radial deviation of finger
25942	SIN3A	HP:0040262	Glue ear
25942	SIN3A	HP:0002119	Ventriculomegaly
25942	SIN3A	HP:0009623	Proximal placement of thumb
25942	SIN3A	HP:0002188	Delayed CNS myelination
25942	SIN3A	HP:0002170	Intracranial hemorrhage
25942	SIN3A	HP:0010535	Sleep apnea
25942	SIN3A	HP:0011833	Overhanging nasal tip
25942	SIN3A	HP:0003593	Infantile onset
25942	SIN3A	HP:0002275	Poor motor coordination
25942	SIN3A	HP:0003577	Congenital onset
25942	SIN3A	HP:0002213	Fine hair
25942	SIN3A	HP:0100790	Hernia
25942	SIN3A	HP:0007018	Attention deficit hyperactivity disorder
25942	SIN3A	HP:0011968	Feeding difficulties
25942	SIN3A	HP:0032059	Mild malformation of cortical development
25942	SIN3A	HP:0032077	Male urethral meatus stenosis
25942	SIN3A	HP:0430028	Hyperplasia of the maxilla
25942	SIN3A	HP:0002360	Sleep disturbance
25942	SIN3A	HP:0002376	Developmental regression
25942	SIN3A	HP:0200055	Small hand
25942	SIN3A	HP:0009795	Branchial fistula
25942	SIN3A	HP:0009778	Short thumb
25942	SIN3A	HP:0010747	Medial flaring of the eyebrow
25942	SIN3A	HP:0003623	Neonatal onset
25942	SIN3A	HP:0004209	Clinodactyly of the 5th finger
25942	SIN3A	HP:0004279	Short palm
25942	SIN3A	HP:0000639	Nystagmus
25942	SIN3A	HP:0000612	Iris coloboma
25942	SIN3A	HP:0001999	Abnormal facial shape
25942	SIN3A	HP:0006989	Dysplastic corpus callosum
25942	SIN3A	HP:0004322	Short stature
25942	SIN3A	HP:0034198	Second trimester onset
25942	SIN3A	HP:0012745	Short palpebral fissure
25942	SIN3A	HP:0012741	Unilateral cryptorchidism
25942	SIN3A	HP:0000752	Hyperactivity
25942	SIN3A	HP:0100024	Conspicuously happy disposition
25942	SIN3A	HP:0000739	Anxiety
25942	SIN3A	HP:0000736	Short attention span
25942	SIN3A	HP:0000750	Delayed speech and language development
25942	SIN3A	HP:0000718	Aggressive behavior
25942	SIN3A	HP:0000717	Autism
25942	SIN3A	HP:0000729	Autistic behavior
25942	SIN3A	HP:0000722	Compulsive behaviors
25942	SIN3A	HP:0000708	Atypical behavior
25942	SIN3A	HP:0011463	Childhood onset
25942	SIN3A	HP:0000776	Congenital diaphragmatic hernia
25942	SIN3A	HP:0003196	Short nose
25942	SIN3A	HP:0000924	Abnormality of the skeletal system
25942	SIN3A	HP:0012810	Wide nasal base
25942	SIN3A	HP:0000824	Decreased response to growth hormone stimulation test
25942	SIN3A	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger
25942	SIN3A	HP:0033052	Psychogenic non-epileptic seizure
25942	SIN3A	HP:0000964	Eczema
25942	SIN3A	HP:0040195	Decreased head circumference
25942	SIN3A	HP:0000286	Epicanthus
25942	SIN3A	HP:0000275	Narrow face
25942	SIN3A	HP:0000276	Long face
25942	SIN3A	HP:0030084	Clinodactyly
25942	SIN3A	HP:0002808	Kyphosis
25942	SIN3A	HP:0000252	Microcephaly
25942	SIN3A	HP:0000219	Thin upper lip vermilion
25942	SIN3A	HP:0000218	High palate
25942	SIN3A	HP:0001561	Polyhydramnios
25942	SIN3A	HP:0001508	Failure to thrive
25942	SIN3A	HP:0001518	Small for gestational age
25942	SIN3A	HP:0001511	Intrauterine growth retardation
25942	SIN3A	HP:0001510	Growth delay
25942	SIN3A	HP:0001513	Obesity
25942	SIN3A	HP:0012378	Fatigue
25942	SIN3A	HP:0000378	Cupped ear
25942	SIN3A	HP:0000391	Thickened helices
25942	SIN3A	HP:0000365	Hearing impairment
25942	SIN3A	HP:0000356	Abnormality of the outer ear
25942	SIN3A	HP:0025646	Bilateral polymicrogyria
25942	SIN3A	HP:0000343	Long philtrum
25942	SIN3A	HP:0000337	Broad forehead
25942	SIN3A	HP:0000348	High forehead
25942	SIN3A	HP:0000319	Smooth philtrum
25942	SIN3A	HP:0000316	Hypertelorism
25942	SIN3A	HP:0000322	Short philtrum
25942	SIN3A	HP:0000325	Triangular face
25942	SIN3A	HP:0000324	Facial asymmetry
25942	SIN3A	HP:0001627	Abnormal heart morphology
25942	SIN3A	HP:0000308	Microretrognathia
25942	SIN3A	HP:0000307	Pointed chin
25942	SIN3A	HP:0000407	Sensorineural hearing impairment
25942	SIN3A	HP:0000400	Macrotia
25942	SIN3A	HP:0005280	Depressed nasal bridge
25942	SIN3A	HP:0000486	Strabismus
25942	SIN3A	HP:0000494	Downslanted palpebral fissures
25942	SIN3A	HP:0000490	Deeply set eye
25942	SIN3A	HP:0001795	Hyperconvex nail
25942	SIN3A	HP:0000463	Anteverted nares
25942	SIN3A	HP:0000454	Flared nostrils
25942	SIN3A	HP:0001770	Toe syndactyly
25942	SIN3A	HP:0001773	Short foot
25942	SIN3A	HP:0011100	Intestinal atresia
25942	SIN3A	HP:0030260	Microphallus
25942	SIN3A	HP:0001780	Abnormal toe morphology
25942	SIN3A	HP:0000445	Wide nose
25942	SIN3A	HP:0000411	Protruding ear
25942	SIN3A	HP:0001741	Phimosis
25942	SIN3A	HP:0000431	Wide nasal bridge
25942	SIN3A	HP:0000430	Underdeveloped nasal alae
25942	SIN3A	HP:0000426	Prominent nasal bridge
25942	SIN3A	HP:0000518	Cataract
25942	SIN3A	HP:0001845	Overlapping toe
25942	SIN3A	HP:0001808	Fragile nails
25942	SIN3A	HP:0011229	Broad eyebrow
25942	SIN3A	HP:0000586	Shallow orbits
25942	SIN3A	HP:0000589	Coloboma
25942	SIN3A	HP:0011220	Prominent forehead
25942	SIN3A	HP:0000568	Microphthalmia
25942	SIN3A	HP:0000540	Hypermetropia
25953	PNKD	HP:0002487	Hyperkinetic movements
25953	PNKD	HP:0002411	Myokymia
25953	PNKD	HP:0001266	Choreoathetosis
25953	PNKD	HP:0001260	Dysarthria
25953	PNKD	HP:0001387	Joint stiffness
25953	PNKD	HP:0001332	Dystonia
25953	PNKD	HP:0000006	Autosomal dominant inheritance
25953	PNKD	HP:0025401	Staring gaze
25953	PNKD	HP:0002015	Dysphagia
25953	PNKD	HP:0003324	Generalized muscle weakness
25953	PNKD	HP:0002094	Dyspnea
25953	PNKD	HP:0002063	Rigidity
25953	PNKD	HP:0002072	Chorea
25953	PNKD	HP:0002167	Abnormality of speech or vocalization
25953	PNKD	HP:0002268	Paroxysmal dystonia
25953	PNKD	HP:0003593	Infantile onset
25953	PNKD	HP:0007098	Paroxysmal choreoathetosis
25953	PNKD	HP:0100660	Dyskinesia
25953	PNKD	HP:0007166	Paroxysmal dyskinesia
25953	PNKD	HP:0004305	Involuntary movements
25953	PNKD	HP:0011463	Childhood onset
25953	PNKD	HP:0000273	Facial grimacing
25953	PNKD	HP:0000211	Trismus
25953	PNKD	HP:0000473	Torticollis
25959	KANK2	HP:0000093	Proteinuria
25959	KANK2	HP:0000007	Autosomal recessive inheritance
25959	KANK2	HP:0000100	Nephrotic syndrome
25959	KANK2	HP:0002224	Woolly hair
25959	KANK2	HP:0002231	Sparse body hair
25959	KANK2	HP:0002209	Sparse scalp hair
25959	KANK2	HP:0009775	Amniotic constriction ring
25959	KANK2	HP:0000653	Sparse eyelashes
25959	KANK2	HP:0011463	Childhood onset
25959	KANK2	HP:0000790	Hematuria
25959	KANK2	HP:0045075	Sparse eyebrow
25959	KANK2	HP:0000982	Palmoplantar keratoderma
25959	KANK2	HP:0001820	Leukonychia
25959	KANK2	HP:0012579	Minimal change glomerulonephritis
25970	SH2B1	HP:0001166	Arachnodactyly
25970	SH2B1	HP:0001161	Hand polydactyly
25970	SH2B1	HP:0001270	Motor delay
25970	SH2B1	HP:0001256	Intellectual disability, mild
25970	SH2B1	HP:0001250	Seizure
25970	SH2B1	HP:0001249	Intellectual disability
25970	SH2B1	HP:0001266	Choreoathetosis
25970	SH2B1	HP:0002591	Polyphagia
25970	SH2B1	HP:0001263	Global developmental delay
25970	SH2B1	HP:0008763	No social interaction
25970	SH2B1	HP:0410263	Brain imaging abnormality
25970	SH2B1	HP:0000093	Proteinuria
25970	SH2B1	HP:0000077	Abnormality of the kidney
25970	SH2B1	HP:0000076	Vesicoureteral reflux
25970	SH2B1	HP:0001363	Craniosynostosis
25970	SH2B1	HP:0002691	Platybasia
25970	SH2B1	HP:0001332	Dystonia
25970	SH2B1	HP:0001328	Specific learning disability
25970	SH2B1	HP:0000003	Multicystic kidney dysplasia
25970	SH2B1	HP:0002650	Scoliosis
25970	SH2B1	HP:0001319	Neonatal hypotonia
25970	SH2B1	HP:0000160	Narrow mouth
25970	SH2B1	HP:0000175	Cleft palate
25970	SH2B1	HP:0000104	Renal agenesis
25970	SH2B1	HP:0002021	Pyloric stenosis
25970	SH2B1	HP:0002020	Gastroesophageal reflux
25970	SH2B1	HP:0011800	Midface retrusion
25970	SH2B1	HP:0003396	Syringomyelia
25970	SH2B1	HP:0002076	Migraine
25970	SH2B1	HP:0003468	Abnormal vertebral morphology
25970	SH2B1	HP:0002149	Hyperuricemia
25970	SH2B1	HP:0002119	Ventriculomegaly
25970	SH2B1	HP:0100702	Arachnoid cyst
25970	SH2B1	HP:0002251	Aganglionic megacolon
25970	SH2B1	HP:0002280	Enlarged cisterna magna
25970	SH2B1	HP:0007018	Attention deficit hyperactivity disorder
25970	SH2B1	HP:0011968	Feeding difficulties
25970	SH2B1	HP:0007099	Chiari type I malformation
25970	SH2B1	HP:0007166	Paroxysmal dyskinesia
25970	SH2B1	HP:0006863	Severe expressive language delay
25970	SH2B1	HP:0009088	Speech articulation difficulties
25970	SH2B1	HP:0012622	Chronic kidney disease
25970	SH2B1	HP:0011351	Moderate receptive language delay
25970	SH2B1	HP:0001999	Abnormal facial shape
25970	SH2B1	HP:0004322	Short stature
25970	SH2B1	HP:0003077	Hyperlipidemia
25970	SH2B1	HP:0003074	Hyperglycemia
25970	SH2B1	HP:0000733	Abnormal repetitive mannerisms
25970	SH2B1	HP:0000735	Impaired social interactions
25970	SH2B1	HP:0000750	Delayed speech and language development
25970	SH2B1	HP:0000718	Aggressive behavior
25970	SH2B1	HP:0000717	Autism
25970	SH2B1	HP:0000729	Autistic behavior
25970	SH2B1	HP:0000708	Atypical behavior
25970	SH2B1	HP:0000776	Congenital diaphragmatic hernia
25970	SH2B1	HP:0000902	Rib fusion
25970	SH2B1	HP:0000842	Hyperinsulinemia
25970	SH2B1	HP:0000294	Low anterior hairline
25970	SH2B1	HP:0000256	Macrocephaly
25970	SH2B1	HP:0002808	Kyphosis
25970	SH2B1	HP:0001508	Failure to thrive
25970	SH2B1	HP:0001513	Obesity
25970	SH2B1	HP:0011098	Speech apraxia
25970	SH2B1	HP:0002910	Elevated hepatic transaminase
25970	SH2B1	HP:0000337	Broad forehead
25970	SH2B1	HP:0000347	Micrognathia
25970	SH2B1	HP:0001651	Dextrocardia
25970	SH2B1	HP:0000316	Hypertelorism
25970	SH2B1	HP:0001646	Abnormal aortic valve morphology
25970	SH2B1	HP:0001627	Abnormal heart morphology
25970	SH2B1	HP:0000300	Oval face
25970	SH2B1	HP:0001631	Atrial septal defect
25970	SH2B1	HP:0000407	Sensorineural hearing impairment
25970	SH2B1	HP:0000405	Conductive hearing impairment
25970	SH2B1	HP:0012450	Chronic constipation
25970	SH2B1	HP:0000426	Prominent nasal bridge
25970	SH2B1	HP:0000510	Rod-cone dystrophy
25970	SH2B1	HP:0000556	Retinal dystrophy
25973	PARS2	HP:0002421	Poor head control
25973	PARS2	HP:0001298	Encephalopathy
25973	PARS2	HP:0001290	Generalized hypotonia
25973	PARS2	HP:0001273	Abnormal corpus callosum morphology
25973	PARS2	HP:0001268	Mental deterioration
25973	PARS2	HP:0001250	Seizure
25973	PARS2	HP:0001251	Ataxia
25973	PARS2	HP:0001249	Intellectual disability
25973	PARS2	HP:0001265	Hyporeflexia
25973	PARS2	HP:0001263	Global developmental delay
25973	PARS2	HP:0001257	Spasticity
25973	PARS2	HP:0002521	Hypsarrhythmia
25973	PARS2	HP:0002509	Limb hypertonia
25973	PARS2	HP:0001347	Hyperreflexia
25973	PARS2	HP:0008872	Feeding difficulties in infancy
25973	PARS2	HP:0001344	Absent speech
25973	PARS2	HP:0000007	Autosomal recessive inheritance
25973	PARS2	HP:0001337	Tremor
25973	PARS2	HP:0001336	Myoclonus
25973	PARS2	HP:0001315	Reduced tendon reflexes
25973	PARS2	HP:0000194	Open mouth
25973	PARS2	HP:0008936	Axial hypotonia
25973	PARS2	HP:0001410	Decreased liver function
25973	PARS2	HP:0002020	Gastroesophageal reflux
25973	PARS2	HP:0002063	Rigidity
25973	PARS2	HP:0002079	Hypoplasia of the corpus callosum
25973	PARS2	HP:0002059	Cerebral atrophy
25973	PARS2	HP:0003487	Babinski sign
25973	PARS2	HP:0002120	Cerebral cortical atrophy
25973	PARS2	HP:0002133	Status epilepticus
25973	PARS2	HP:0003429	CNS hypomyelination
25973	PARS2	HP:0100704	Cerebral visual impairment
25973	PARS2	HP:0100710	Impulsivity
25973	PARS2	HP:0200134	Epileptic encephalopathy
25973	PARS2	HP:0007018	Attention deficit hyperactivity disorder
25973	PARS2	HP:0011968	Feeding difficulties
25973	PARS2	HP:0002376	Developmental regression
25973	PARS2	HP:0002355	Difficulty walking
25973	PARS2	HP:0002317	Unsteady gait
25973	PARS2	HP:0010844	EEG with multifocal slow activity
25973	PARS2	HP:0100660	Dyskinesia
25973	PARS2	HP:0000639	Nystagmus
25973	PARS2	HP:0000648	Optic atrophy
25973	PARS2	HP:0000668	Hypodontia
25973	PARS2	HP:0004322	Short stature
25973	PARS2	HP:0004305	Involuntary movements
25973	PARS2	HP:0006913	Frontal cortical atrophy
25973	PARS2	HP:0012736	Profound global developmental delay
25973	PARS2	HP:0000750	Delayed speech and language development
25973	PARS2	HP:0000717	Autism
25973	PARS2	HP:0000708	Atypical behavior
25973	PARS2	HP:0011443	Abnormality of coordination
25973	PARS2	HP:0003196	Short nose
25973	PARS2	HP:0000252	Microcephaly
25973	PARS2	HP:0001558	Decreased fetal movement
25973	PARS2	HP:0001508	Failure to thrive
25973	PARS2	HP:0006579	Prolonged neonatal jaundice
25973	PARS2	HP:0000340	Sloping forehead
25973	PARS2	HP:0000348	High forehead
25973	PARS2	HP:0000316	Hypertelorism
25973	PARS2	HP:0000331	Short chin
25973	PARS2	HP:0000322	Short philtrum
25973	PARS2	HP:0001638	Cardiomyopathy
25973	PARS2	HP:0000494	Downslanted palpebral fissures
25973	PARS2	HP:0000463	Anteverted nares
25973	PARS2	HP:0012444	Brain atrophy
25973	PARS2	HP:0012447	Abnormal myelination
25973	PARS2	HP:0000431	Wide nasal bridge
25973	PARS2	HP:0005484	Secondary microcephaly
25973	PARS2	HP:0000520	Proptosis
25973	PARS2	HP:0000508	Ptosis
25973	PARS2	HP:0000504	Abnormality of vision
25973	PARS2	HP:0000582	Upslanted palpebral fissure
25973	PARS2	HP:0012547	Abnormal involuntary eye movements
25973	PARS2	HP:0000546	Retinal degeneration
25973	PARS2	HP:0000543	Optic disc pallor
25974	MMACHC	HP:0001116	Macular coloboma
25974	MMACHC	HP:0007258	Severe demyelination of the white matter
25974	MMACHC	HP:0001298	Encephalopathy
25974	MMACHC	HP:0001297	Stroke
25974	MMACHC	HP:0001290	Generalized hypotonia
25974	MMACHC	HP:0100820	Glomerulopathy
25974	MMACHC	HP:0001268	Mental deterioration
25974	MMACHC	HP:0001289	Confusion
25974	MMACHC	HP:0001254	Lethargy
25974	MMACHC	HP:0001250	Seizure
25974	MMACHC	HP:0001252	Hypotonia
25974	MMACHC	HP:0001251	Ataxia
25974	MMACHC	HP:0001249	Intellectual disability
25974	MMACHC	HP:0001263	Global developmental delay
25974	MMACHC	HP:0008765	Auditory hallucinations
25974	MMACHC	HP:0000083	Renal insufficiency
25974	MMACHC	HP:0000093	Proteinuria
25974	MMACHC	HP:0008872	Feeding difficulties in infancy
25974	MMACHC	HP:0000007	Autosomal recessive inheritance
25974	MMACHC	HP:0001337	Tremor
25974	MMACHC	HP:0002625	Deep venous thrombosis
25974	MMACHC	HP:0012120	Methylmalonic aciduria
25974	MMACHC	HP:0007663	Reduced visual acuity
25974	MMACHC	HP:0000112	Nephropathy
25974	MMACHC	HP:0031258	Delirium
25974	MMACHC	HP:0002098	Respiratory distress
25974	MMACHC	HP:0002092	Pulmonary arterial hypertension
25974	MMACHC	HP:0002071	Abnormality of extrapyramidal motor function
25974	MMACHC	HP:0002045	Hypothermia
25974	MMACHC	HP:0002059	Cerebral atrophy
25974	MMACHC	HP:0002156	Homocystinuria
25974	MMACHC	HP:0002120	Cerebral cortical atrophy
25974	MMACHC	HP:0002167	Abnormality of speech or vocalization
25974	MMACHC	HP:0002160	Hyperhomocystinemia
25974	MMACHC	HP:0003593	Infantile onset
25974	MMACHC	HP:0003524	Decreased methionine synthase activity
25974	MMACHC	HP:0002204	Pulmonary embolism
25974	MMACHC	HP:0007010	Poor fine motor coordination
25974	MMACHC	HP:0011968	Feeding difficulties
25974	MMACHC	HP:0002376	Developmental regression
25974	MMACHC	HP:0002354	Memory impairment
25974	MMACHC	HP:0002352	Leukoencephalopathy
25974	MMACHC	HP:0003658	Hypomethioninemia
25974	MMACHC	HP:0006827	Atrophy of the spinal cord
25974	MMACHC	HP:0005575	Hemolytic-uremic syndrome
25974	MMACHC	HP:0000639	Nystagmus
25974	MMACHC	HP:0000648	Optic atrophy
25974	MMACHC	HP:0001944	Dehydration
25974	MMACHC	HP:0001943	Hypoglycemia
25974	MMACHC	HP:0001942	Metabolic acidosis
25974	MMACHC	HP:0001907	Thromboembolism
25974	MMACHC	HP:0001987	Hyperammonemia
25974	MMACHC	HP:0001999	Abnormal facial shape
25974	MMACHC	HP:0000751	Personality changes
25974	MMACHC	HP:0000726	Dementia
25974	MMACHC	HP:0000709	Psychosis
25974	MMACHC	HP:0000708	Atypical behavior
25974	MMACHC	HP:0000707	Abnormality of the nervous system
25974	MMACHC	HP:0000790	Hematuria
25974	MMACHC	HP:0012758	Neurodevelopmental delay
25974	MMACHC	HP:0040126	Abnormal vitamin B12 level
25974	MMACHC	HP:0100309	Subdural hemorrhage
25974	MMACHC	HP:0003153	Cystathioninuria
25974	MMACHC	HP:0003145	Decreased adenosylcobalamin
25974	MMACHC	HP:0010280	Stomatitis
25974	MMACHC	HP:0003210	Decreased methylmalonyl-CoA mutase activity
25974	MMACHC	HP:0003223	Decreased methylcobalamin
25974	MMACHC	HP:0030891	Periventricular white matter hyperintensities
25974	MMACHC	HP:0003286	Cystathioninemia
25974	MMACHC	HP:0008002	Abnormality of macular pigmentation
25974	MMACHC	HP:0000952	Jaundice
25974	MMACHC	HP:0000276	Long face
25974	MMACHC	HP:0000238	Hydrocephalus
25974	MMACHC	HP:0000252	Microcephaly
25974	MMACHC	HP:0000206	Glossitis
25974	MMACHC	HP:0001508	Failure to thrive
25974	MMACHC	HP:0001511	Intrauterine growth retardation
25974	MMACHC	HP:0001510	Growth delay
25974	MMACHC	HP:0011096	Peripheral demyelination
25974	MMACHC	HP:0002919	Ketonuria
25974	MMACHC	HP:0002912	Methylmalonic acidemia
25974	MMACHC	HP:0000369	Low-set ears
25974	MMACHC	HP:0000348	High forehead
25974	MMACHC	HP:0000319	Smooth philtrum
25974	MMACHC	HP:0001644	Dilated cardiomyopathy
25974	MMACHC	HP:0001627	Abnormal heart morphology
25974	MMACHC	HP:0000400	Macrotia
25974	MMACHC	HP:0031544	Elevated circulating palmitoleylcarnitine concentration
25974	MMACHC	HP:0012469	Infantile spasms
25974	MMACHC	HP:0001789	Hydrops fetalis
25974	MMACHC	HP:0012443	Abnormality of brain morphology
25974	MMACHC	HP:0000505	Visual impairment
25974	MMACHC	HP:0000580	Pigmentary retinopathy
25974	MMACHC	HP:0001889	Megaloblastic anemia
25974	MMACHC	HP:0000546	Retinal degeneration
25974	MMACHC	HP:0001873	Thrombocytopenia
25974	MMACHC	HP:0001875	Neutropenia
25977	NECAP1	HP:0002421	Poor head control
25977	NECAP1	HP:0001298	Encephalopathy
25977	NECAP1	HP:0001290	Generalized hypotonia
25977	NECAP1	HP:0001273	Abnormal corpus callosum morphology
25977	NECAP1	HP:0001268	Mental deterioration
25977	NECAP1	HP:0001250	Seizure
25977	NECAP1	HP:0001251	Ataxia
25977	NECAP1	HP:0001249	Intellectual disability
25977	NECAP1	HP:0001265	Hyporeflexia
25977	NECAP1	HP:0001263	Global developmental delay
25977	NECAP1	HP:0001257	Spasticity
25977	NECAP1	HP:0002521	Hypsarrhythmia
25977	NECAP1	HP:0002509	Limb hypertonia
25977	NECAP1	HP:0031165	Multifocal seizures
25977	NECAP1	HP:0000007	Autosomal recessive inheritance
25977	NECAP1	HP:0001337	Tremor
25977	NECAP1	HP:0001336	Myoclonus
25977	NECAP1	HP:0001315	Reduced tendon reflexes
25977	NECAP1	HP:0008936	Axial hypotonia
25977	NECAP1	HP:0002020	Gastroesophageal reflux
25977	NECAP1	HP:0002063	Rigidity
25977	NECAP1	HP:0002059	Cerebral atrophy
25977	NECAP1	HP:0002133	Status epilepticus
25977	NECAP1	HP:0003577	Congenital onset
25977	NECAP1	HP:0100710	Impulsivity
25977	NECAP1	HP:0200134	Epileptic encephalopathy
25977	NECAP1	HP:0007018	Attention deficit hyperactivity disorder
25977	NECAP1	HP:0011968	Feeding difficulties
25977	NECAP1	HP:0002376	Developmental regression
25977	NECAP1	HP:0002355	Difficulty walking
25977	NECAP1	HP:0002317	Unsteady gait
25977	NECAP1	HP:0010844	EEG with multifocal slow activity
25977	NECAP1	HP:0100660	Dyskinesia
25977	NECAP1	HP:0010818	Generalized tonic seizure
25977	NECAP1	HP:0000639	Nystagmus
25977	NECAP1	HP:0000648	Optic atrophy
25977	NECAP1	HP:0000668	Hypodontia
25977	NECAP1	HP:0004322	Short stature
25977	NECAP1	HP:0004305	Involuntary movements
25977	NECAP1	HP:0012736	Profound global developmental delay
25977	NECAP1	HP:0000750	Delayed speech and language development
25977	NECAP1	HP:0000717	Autism
25977	NECAP1	HP:0000708	Atypical behavior
25977	NECAP1	HP:0011443	Abnormality of coordination
25977	NECAP1	HP:0000252	Microcephaly
25977	NECAP1	HP:0001558	Decreased fetal movement
25977	NECAP1	HP:0001508	Failure to thrive
25977	NECAP1	HP:0000348	High forehead
25977	NECAP1	HP:0011182	Interictal epileptiform activity
25977	NECAP1	HP:0000494	Downslanted palpebral fissures
25977	NECAP1	HP:0012444	Brain atrophy
25977	NECAP1	HP:0012447	Abnormal myelination
25977	NECAP1	HP:0000508	Ptosis
25977	NECAP1	HP:0000504	Abnormality of vision
25977	NECAP1	HP:0012547	Abnormal involuntary eye movements
25977	NECAP1	HP:0000546	Retinal degeneration
25978	CHMP2B	HP:0002493	Upper motor neuron dysfunction
25978	CHMP2B	HP:0002465	Poor speech
25978	CHMP2B	HP:0002442	Dyscalculia
25978	CHMP2B	HP:0002446	Astrocytosis
25978	CHMP2B	HP:0002427	Expressive aphasia
25978	CHMP2B	HP:0001297	Stroke
25978	CHMP2B	HP:0001268	Mental deterioration
25978	CHMP2B	HP:0001288	Gait disturbance
25978	CHMP2B	HP:0001257	Spasticity
25978	CHMP2B	HP:0007373	Motor neuron atrophy
25978	CHMP2B	HP:0007354	Amyotrophic lateral sclerosis
25978	CHMP2B	HP:0002529	Neuronal loss in central nervous system
25978	CHMP2B	HP:0002500	Abnormal cerebral white matter morphology
25978	CHMP2B	HP:0000020	Urinary incontinence
25978	CHMP2B	HP:0001347	Hyperreflexia
25978	CHMP2B	HP:0001332	Dystonia
25978	CHMP2B	HP:0000006	Autosomal dominant inheritance
25978	CHMP2B	HP:0001336	Myoclonus
25978	CHMP2B	HP:0001300	Parkinsonism
25978	CHMP2B	HP:0025425	Laryngospasm
25978	CHMP2B	HP:0002795	Abnormal respiratory system physiology
25978	CHMP2B	HP:0002017	Nausea and vomiting
25978	CHMP2B	HP:0003324	Generalized muscle weakness
25978	CHMP2B	HP:0002094	Dyspnea
25978	CHMP2B	HP:0002069	Bilateral tonic-clonic seizure
25978	CHMP2B	HP:0003394	Muscle spasm
25978	CHMP2B	HP:0002063	Rigidity
25978	CHMP2B	HP:0002071	Abnormality of extrapyramidal motor function
25978	CHMP2B	HP:0002145	Frontotemporal dementia
25978	CHMP2B	HP:0003470	Paralysis
25978	CHMP2B	HP:0003487	Babinski sign
25978	CHMP2B	HP:0002120	Cerebral cortical atrophy
25978	CHMP2B	HP:0002186	Apraxia
25978	CHMP2B	HP:0002185	Neurofibrillary tangles
25978	CHMP2B	HP:0002180	Neurodegeneration
25978	CHMP2B	HP:0002167	Abnormality of speech or vocalization
25978	CHMP2B	HP:0010529	Echolalia
25978	CHMP2B	HP:0010522	Dyslexia
25978	CHMP2B	HP:0010526	Dysgraphia
25978	CHMP2B	HP:0010523	Alexia
25978	CHMP2B	HP:0003596	Middle age onset
25978	CHMP2B	HP:0002380	Fasciculations
25978	CHMP2B	HP:0002381	Aphasia
25978	CHMP2B	HP:0002366	Abnormal lower motor neuron morphology
25978	CHMP2B	HP:0002371	Loss of speech
25978	CHMP2B	HP:0002354	Memory impairment
25978	CHMP2B	HP:0007112	Temporal cortical atrophy
25978	CHMP2B	HP:0002300	Mutism
25978	CHMP2B	HP:0002310	Orofacial dyskinesia
25978	CHMP2B	HP:0006892	Frontotemporal cerebral atrophy
25978	CHMP2B	HP:0012671	Abulia
25978	CHMP2B	HP:0012658	Abnormal brain FDG positron emission tomography
25978	CHMP2B	HP:0006977	Deficit in grammar
25978	CHMP2B	HP:0030692	Brain neoplasm
25978	CHMP2B	HP:0000757	Lack of insight
25978	CHMP2B	HP:0000751	Personality changes
25978	CHMP2B	HP:0000737	Irritability
25978	CHMP2B	HP:0000739	Anxiety
25978	CHMP2B	HP:0000734	Disinhibition
25978	CHMP2B	HP:0000733	Abnormal repetitive mannerisms
25978	CHMP2B	HP:0000741	Apathy
25978	CHMP2B	HP:0000743	Frontal release signs
25978	CHMP2B	HP:0000719	Inappropriate behavior
25978	CHMP2B	HP:0000716	Depression
25978	CHMP2B	HP:0000718	Aggressive behavior
25978	CHMP2B	HP:0000712	Emotional lability
25978	CHMP2B	HP:0000711	Restlessness
25978	CHMP2B	HP:0000713	Agitation
25978	CHMP2B	HP:0000710	Hyperorality
25978	CHMP2B	HP:0000726	Dementia
25978	CHMP2B	HP:0000723	Restrictive behavior
25978	CHMP2B	HP:0000709	Psychosis
25978	CHMP2B	HP:0000708	Atypical behavior
25978	CHMP2B	HP:0030784	Anomic aphasia
25978	CHMP2B	HP:0100315	Lewy bodies
25978	CHMP2B	HP:0003202	Skeletal muscle atrophy
25978	CHMP2B	HP:0100256	Senile plaques
25978	CHMP2B	HP:0000217	Xerostomia
25978	CHMP2B	HP:0002878	Respiratory failure
25978	CHMP2B	HP:0012378	Fatigue
25978	CHMP2B	HP:0030196	Fatigable weakness of respiratory muscles
25978	CHMP2B	HP:0030195	Fatigable weakness of swallowing muscles
25978	CHMP2B	HP:0030192	Fatigable weakness of bulbar muscles
25978	CHMP2B	HP:0030213	Emotional blunting
25978	CHMP2B	HP:0030212	Collectionism
25978	CHMP2B	HP:0030223	Manifestations of perseverative thought or action
25978	CHMP2B	HP:0030222	Visual agnosia
25978	CHMP2B	HP:0012444	Brain atrophy
25978	CHMP2B	HP:0000474	Thickened nuchal skin fold
25978	CHMP2B	HP:0011204	EEG with continuous slow activity
25978	CHMP2B	HP:0030391	Spoken word recognition deficit
25978	CHMP2B	HP:0012531	Pain
25981	DNAH1	HP:0025177	Peribronchovascular interstitial thickening
25981	DNAH1	HP:0002566	Intestinal malrotation
25981	DNAH1	HP:0001217	Clubbing
25981	DNAH1	HP:0012020	Right aortic arch
25981	DNAH1	HP:0000007	Autosomal recessive inheritance
25981	DNAH1	HP:0002643	Neonatal respiratory distress
25981	DNAH1	HP:0000119	Abnormality of the genitourinary system
25981	DNAH1	HP:0032543	Lithoptysis
25981	DNAH1	HP:0032558	Absent sperm flagella
25981	DNAH1	HP:0032559	Short sperm flagella
25981	DNAH1	HP:0032560	Coiled sperm flagella
25981	DNAH1	HP:0031245	Productive cough
25981	DNAH1	HP:0002011	Morphological central nervous system abnormality
25981	DNAH1	HP:0100582	Nasal polyposis
25981	DNAH1	HP:0002119	Ventriculomegaly
25981	DNAH1	HP:0002110	Bronchiectasis
25981	DNAH1	HP:0008222	Female infertility
25981	DNAH1	HP:0002257	Chronic rhinitis
25981	DNAH1	HP:0100750	Atelectasis
25981	DNAH1	HP:0032016	Abnormal sputum
25981	DNAH1	HP:0033393	Irregularly shaped sperm tail
25981	DNAH1	HP:0011947	Respiratory tract infection
25981	DNAH1	HP:0010772	Anomalous pulmonary venous return
25981	DNAH1	HP:0030680	Abnormality of cardiovascular system morphology
25981	DNAH1	HP:0000750	Delayed speech and language development
25981	DNAH1	HP:0011463	Childhood onset
25981	DNAH1	HP:0011462	Young adult onset
25981	DNAH1	HP:0000924	Abnormality of the skeletal system
25981	DNAH1	HP:0011539	Atrial situs ambiguous
25981	DNAH1	HP:0011535	Abnormal atrial arrangement
25981	DNAH1	HP:0000853	Goiter
25981	DNAH1	HP:0000821	Hypothyroidism
25981	DNAH1	HP:0030828	Wheezing
25981	DNAH1	HP:0003251	Male infertility
25981	DNAH1	HP:0011617	Pulmonary situs ambiguus
25981	DNAH1	HP:0025576	Abnormal inferior vena cava morphology
25981	DNAH1	HP:0031417	Rhinorrhea
25981	DNAH1	HP:0000238	Hydrocephalus
25981	DNAH1	HP:0012206	Abnormal sperm motility
25981	DNAH1	HP:0012207	Reduced sperm motility
25981	DNAH1	HP:0002878	Respiratory failure
25981	DNAH1	HP:0000389	Chronic otitis media
25981	DNAH1	HP:0006536	Airway obstruction
25981	DNAH1	HP:0001696	Situs inversus totalis
25981	DNAH1	HP:0000365	Hearing impairment
25981	DNAH1	HP:0001669	Transposition of the great arteries
25981	DNAH1	HP:0031456	Ectopic pregnancy
25981	DNAH1	HP:0001651	Dextrocardia
25981	DNAH1	HP:0001627	Abnormal heart morphology
25981	DNAH1	HP:0005301	Persistent left superior vena cava
25981	DNAH1	HP:0000403	Recurrent otitis media
25981	DNAH1	HP:0000405	Conductive hearing impairment
25981	DNAH1	HP:0001719	Double outlet right ventricle
25981	DNAH1	HP:0011109	Chronic sinusitis
25981	DNAH1	HP:0001746	Asplenia
25981	DNAH1	HP:0001748	Polysplenia
25981	DNAH1	HP:0001742	Nasal congestion
25981	DNAH1	HP:0005425	Recurrent sinopulmonary infections
25981	DNAH1	HP:0011274	Recurrent mycobacterial infections
25981	DNAH1	HP:0000510	Rod-cone dystrophy
26005	C2CD3	HP:0001162	Postaxial hand polydactyly
26005	C2CD3	HP:0100954	Open operculum
26005	C2CD3	HP:0010864	Intellectual disability, severe
26005	C2CD3	HP:0009879	Simplified gyral pattern
26005	C2CD3	HP:0002419	Molar tooth sign on MRI
26005	C2CD3	HP:0001290	Generalized hypotonia
26005	C2CD3	HP:0001252	Hypotonia
26005	C2CD3	HP:0001249	Intellectual disability
26005	C2CD3	HP:0001263	Global developmental delay
26005	C2CD3	HP:0008753	Aplasia of the epiglottis
26005	C2CD3	HP:0008689	Bilateral cryptorchidism
26005	C2CD3	HP:0000039	Epispadias
26005	C2CD3	HP:0000054	Micropenis
26005	C2CD3	HP:0001360	Holoprosencephaly
26005	C2CD3	HP:0000028	Cryptorchidism
26005	C2CD3	HP:0001344	Absent speech
26005	C2CD3	HP:0001338	Partial agenesis of the corpus callosum
26005	C2CD3	HP:0000007	Autosomal recessive inheritance
26005	C2CD3	HP:0001305	Dandy-Walker malformation
26005	C2CD3	HP:0001320	Cerebellar vermis hypoplasia
26005	C2CD3	HP:0001321	Cerebellar hypoplasia
26005	C2CD3	HP:0000180	Lobulated tongue
26005	C2CD3	HP:0000191	Accessory oral frenulum
26005	C2CD3	HP:0000175	Cleft palate
26005	C2CD3	HP:0410030	Cleft lip
26005	C2CD3	HP:0011802	Hamartoma of tongue
26005	C2CD3	HP:0002085	Occipital encephalocele
26005	C2CD3	HP:0002079	Hypoplasia of the corpus callosum
26005	C2CD3	HP:0002126	Polymicrogyria
26005	C2CD3	HP:0003429	CNS hypomyelination
26005	C2CD3	HP:0002198	Dilated fourth ventricle
26005	C2CD3	HP:0010535	Sleep apnea
26005	C2CD3	HP:0003577	Congenital onset
26005	C2CD3	HP:0007082	Dilated third ventricle
26005	C2CD3	HP:0032118	Retinitis
26005	C2CD3	HP:0007165	Periventricular heterotopia
26005	C2CD3	HP:0010066	Duplication of phalanx of hallux
26005	C2CD3	HP:0010051	Deviation of the hallux
26005	C2CD3	HP:0010055	Broad hallux
26005	C2CD3	HP:0000695	Natal tooth
26005	C2CD3	HP:0001999	Abnormal facial shape
26005	C2CD3	HP:0011471	Gastrostomy tube feeding in infancy
26005	C2CD3	HP:0000773	Short ribs
26005	C2CD3	HP:0010297	Bifid tongue
26005	C2CD3	HP:0100258	Preaxial polydactyly
26005	C2CD3	HP:0000243	Trigonocephaly
26005	C2CD3	HP:0000252	Microcephaly
26005	C2CD3	HP:0001545	Anteriorly placed anus
26005	C2CD3	HP:0011069	Supernumerary tooth
26005	C2CD3	HP:0000358	Posteriorly rotated ears
26005	C2CD3	HP:0000369	Low-set ears
26005	C2CD3	HP:0000368	Low-set, posteriorly rotated ears
26005	C2CD3	HP:0000340	Sloping forehead
26005	C2CD3	HP:0000347	Micrognathia
26005	C2CD3	HP:0001643	Patent ductus arteriosus
26005	C2CD3	HP:0001629	Ventricular septal defect
26005	C2CD3	HP:0000308	Microretrognathia
26005	C2CD3	HP:0001631	Atrial septal defect
26005	C2CD3	HP:0000480	Retinal coloboma
26005	C2CD3	HP:0012447	Abnormal myelination
26005	C2CD3	HP:0000470	Short neck
26005	C2CD3	HP:0000465	Webbed neck
26005	C2CD3	HP:0000414	Bulbous nose
26005	C2CD3	HP:0000506	Telecanthus
26005	C2CD3	HP:0001830	Postaxial foot polydactyly
26005	C2CD3	HP:0012583	Unilateral renal hypoplasia
26005	C2CD3	HP:0000582	Upslanted palpebral fissure
26005	C2CD3	HP:0000588	Optic disc coloboma
26007	TKFC	HP:0001131	Corneal dystrophy
26007	TKFC	HP:0001270	Motor delay
26007	TKFC	HP:0001263	Global developmental delay
26007	TKFC	HP:0001397	Hepatic steatosis
26007	TKFC	HP:0000007	Autosomal recessive inheritance
26007	TKFC	HP:0001321	Cerebellar hypoplasia
26007	TKFC	HP:0002028	Chronic diarrhea
26007	TKFC	HP:0002136	Broad-based gait
26007	TKFC	HP:0002188	Delayed CNS myelination
26007	TKFC	HP:0002240	Hepatomegaly
26007	TKFC	HP:0000639	Nystagmus
26007	TKFC	HP:0001935	Microcytic anemia
26007	TKFC	HP:0031964	Elevated circulating alanine aminotransferase concentration
26007	TKFC	HP:0003073	Hypoalbuminemia
26007	TKFC	HP:0000750	Delayed speech and language development
26007	TKFC	HP:0003198	Myopathy
26007	TKFC	HP:0003128	Lactic acidosis
26007	TKFC	HP:0001531	Failure to thrive in infancy
26007	TKFC	HP:0001644	Dilated cardiomyopathy
26007	TKFC	HP:0001639	Hypertrophic cardiomyopathy
26007	TKFC	HP:0006673	Reduced systolic function
26007	TKFC	HP:0001733	Pancreatitis
26007	TKFC	HP:0000486	Strabismus
26007	TKFC	HP:0000518	Cataract
26007	TKFC	HP:0000512	Abnormal electroretinogram
26007	TKFC	HP:0000501	Glaucoma
26007	TKFC	HP:0000568	Microphthalmia
26007	TKFC	HP:0000545	Myopia
26011	TENM4	HP:0003828	Variable expressivity
26011	TENM4	HP:0003829	Typified by incomplete penetrance
26011	TENM4	HP:0003831	Typified by age-related disease onset
26011	TENM4	HP:0000006	Autosomal dominant inheritance
26011	TENM4	HP:0002080	Intention tremor
26011	TENM4	HP:0002067	Bradykinesia
26011	TENM4	HP:0002174	Postural tremor
26011	TENM4	HP:0003677	Slowly progressive
26011	TENM4	HP:0031947	Tongue tremor
26011	TENM4	HP:0030186	Kinetic tremor
26012	NSMF	HP:0003782	Eunuchoid habitus
26012	NSMF	HP:0009921	Duane anomaly
26012	NSMF	HP:0008734	Decreased testicular size
26012	NSMF	HP:0008724	Hypoplasia of the ovary
26012	NSMF	HP:0000044	Hypogonadotropic hypogonadism
26012	NSMF	HP:0000054	Micropenis
26012	NSMF	HP:0000026	Male hypogonadism
26012	NSMF	HP:0000028	Cryptorchidism
26012	NSMF	HP:0000027	Azoospermia
26012	NSMF	HP:0000002	Abnormality of body height
26012	NSMF	HP:0000013	Hypoplasia of the uterus
26012	NSMF	HP:0000006	Autosomal dominant inheritance
26012	NSMF	HP:0000164	Abnormality of the dentition
26012	NSMF	HP:0000175	Cleft palate
26012	NSMF	HP:0410030	Cleft lip
26012	NSMF	HP:0000118	Phenotypic abnormality
26012	NSMF	HP:0000134	Female hypogonadism
26012	NSMF	HP:0002761	Generalized joint laxity
26012	NSMF	HP:0002750	Delayed skeletal maturation
26012	NSMF	HP:0011803	Bifid nose
26012	NSMF	HP:0008197	Absence of pubertal development
26012	NSMF	HP:0008187	Absence of secondary sex characteristics
26012	NSMF	HP:0002231	Sparse body hair
26012	NSMF	HP:0011961	Non-obstructive azoospermia
26012	NSMF	HP:0008527	Congenital sensorineural hearing impairment
26012	NSMF	HP:0000802	Impotence
26012	NSMF	HP:0000771	Gynecomastia
26012	NSMF	HP:0000739	Anxiety
26012	NSMF	HP:0000716	Depression
26012	NSMF	HP:0000786	Primary amenorrhea
26012	NSMF	HP:0004409	Hyposmia
26012	NSMF	HP:0003187	Breast hypoplasia
26012	NSMF	HP:0000869	Secondary amenorrhea
26012	NSMF	HP:0000823	Delayed puberty
26012	NSMF	HP:0000939	Osteoporosis
26012	NSMF	HP:0000938	Osteopenia
26012	NSMF	HP:0040171	Decreased serum testosterone concentration
26012	NSMF	HP:0030084	Clinodactyly
26012	NSMF	HP:0030019	Increased female libido
26012	NSMF	HP:0012385	Camptodactyly
26012	NSMF	HP:0001608	Abnormality of the voice
26012	NSMF	HP:0000316	Hypertelorism
26012	NSMF	HP:0006610	Wide intermamillary distance
26012	NSMF	HP:0005280	Depressed nasal bridge
26012	NSMF	HP:0000458	Anosmia
26022	TMEM98	HP:0000006	Autosomal dominant inheritance
26022	TMEM98	HP:0007663	Reduced visual acuity
26022	TMEM98	HP:0012109	Angle closure glaucoma
26022	TMEM98	HP:0003577	Congenital onset
26022	TMEM98	HP:0008499	High hypermetropia
26022	TMEM98	HP:0000610	Abnormal choroid morphology
26022	TMEM98	HP:0007703	Abnormality of retinal pigmentation
26022	TMEM98	HP:0000486	Strabismus
26022	TMEM98	HP:0012426	Optic disc drusen
26022	TMEM98	HP:0000501	Glaucoma
26022	TMEM98	HP:0000568	Microphthalmia
26022	TMEM98	HP:0000540	Hypermetropia
26038	CHD5	HP:0008551	Microtia
26038	CHD5	HP:0001270	Motor delay
26038	CHD5	HP:0001250	Seizure
26038	CHD5	HP:0001252	Hypotonia
26038	CHD5	HP:0001249	Intellectual disability
26038	CHD5	HP:0001363	Craniosynostosis
26038	CHD5	HP:0000006	Autosomal dominant inheritance
26038	CHD5	HP:0012166	Skin-picking
26038	CHD5	HP:0002007	Frontal bossing
26038	CHD5	HP:0003593	Infantile onset
26038	CHD5	HP:0100716	Self-injurious behavior
26038	CHD5	HP:0007018	Attention deficit hyperactivity disorder
26038	CHD5	HP:0000664	Synophrys
26038	CHD5	HP:0000750	Delayed speech and language development
26038	CHD5	HP:0000718	Aggressive behavior
26038	CHD5	HP:0000729	Autistic behavior
26038	CHD5	HP:0000286	Epicanthus
26038	CHD5	HP:0000378	Cupped ear
26038	CHD5	HP:0000358	Posteriorly rotated ears
26038	CHD5	HP:0000369	Low-set ears
26038	CHD5	HP:0000347	Micrognathia
26038	CHD5	HP:0000322	Short philtrum
26038	CHD5	HP:0005274	Prominent nasal tip
26038	CHD5	HP:0000426	Prominent nasal bridge
26038	CHD5	HP:0000582	Upslanted palpebral fissure
26040	SETBP1	HP:0001162	Postaxial hand polydactyly
26040	SETBP1	HP:0008628	Abnormality of the stapes
26040	SETBP1	HP:0008610	Infantile sensorineural hearing impairment
26040	SETBP1	HP:0025161	Frequent temper tantrums
26040	SETBP1	HP:0010864	Intellectual disability, severe
26040	SETBP1	HP:0009882	Short distal phalanx of finger
26040	SETBP1	HP:0025259	Stiff elbow
26040	SETBP1	HP:0001276	Hypertonia
26040	SETBP1	HP:0001270	Motor delay
26040	SETBP1	HP:0001256	Intellectual disability, mild
26040	SETBP1	HP:0001250	Seizure
26040	SETBP1	HP:0001252	Hypotonia
26040	SETBP1	HP:0001249	Intellectual disability
26040	SETBP1	HP:0001263	Global developmental delay
26040	SETBP1	HP:0001257	Spasticity
26040	SETBP1	HP:0002557	Hypoplastic nipples
26040	SETBP1	HP:0002546	Incomprehensible speech
26040	SETBP1	HP:0002521	Hypsarrhythmia
26040	SETBP1	HP:0000064	Hypoplastic labia minora
26040	SETBP1	HP:0000059	Hypoplastic labia majora
26040	SETBP1	HP:0000078	Abnormality of the genital system
26040	SETBP1	HP:0000072	Hydroureter
26040	SETBP1	HP:0000071	Ureteral stenosis
26040	SETBP1	HP:0000069	Abnormality of the ureter
26040	SETBP1	HP:0000046	Small scrotum
26040	SETBP1	HP:0000054	Micropenis
26040	SETBP1	HP:0001385	Hip dysplasia
26040	SETBP1	HP:0000047	Hypospadias
26040	SETBP1	HP:0000023	Inguinal hernia
26040	SETBP1	HP:0002694	Sclerosis of skull base
26040	SETBP1	HP:0000028	Cryptorchidism
26040	SETBP1	HP:0008897	Postnatal growth retardation
26040	SETBP1	HP:0001344	Absent speech
26040	SETBP1	HP:0002667	Nephroblastoma
26040	SETBP1	HP:0000006	Autosomal dominant inheritance
26040	SETBP1	HP:0002650	Scoliosis
26040	SETBP1	HP:0002645	Wormian bones
26040	SETBP1	HP:0000187	Broad alveolar ridges
26040	SETBP1	HP:0000189	Narrow palate
26040	SETBP1	HP:0000194	Open mouth
26040	SETBP1	HP:0000160	Narrow mouth
26040	SETBP1	HP:0000158	Macroglossia
26040	SETBP1	HP:0000168	Abnormality of the gingiva
26040	SETBP1	HP:0000154	Wide mouth
26040	SETBP1	HP:0000126	Hydronephrosis
26040	SETBP1	HP:0000107	Renal cyst
26040	SETBP1	HP:0002751	Kyphoscoliosis
26040	SETBP1	HP:0002015	Dysphagia
26040	SETBP1	HP:0002007	Frontal bossing
26040	SETBP1	HP:0003307	Hyperlordosis
26040	SETBP1	HP:0011800	Midface retrusion
26040	SETBP1	HP:0002089	Pulmonary hypoplasia
26040	SETBP1	HP:0002098	Respiratory distress
26040	SETBP1	HP:0002079	Hypoplasia of the corpus callosum
26040	SETBP1	HP:0002059	Cerebral atrophy
26040	SETBP1	HP:0010464	Streak ovary
26040	SETBP1	HP:0011787	Central hypothyroidism
26040	SETBP1	HP:0002120	Cerebral cortical atrophy
26040	SETBP1	HP:0002119	Ventriculomegaly
26040	SETBP1	HP:0002187	Intellectual disability, profound
26040	SETBP1	HP:0002197	Generalized-onset seizure
26040	SETBP1	HP:0002190	Choroid plexus cyst
26040	SETBP1	HP:0002179	Opisthotonus
26040	SETBP1	HP:0010554	Cutaneous finger syndactyly
26040	SETBP1	HP:0010557	Overlapping fingers
26040	SETBP1	HP:0003593	Infantile onset
26040	SETBP1	HP:0002251	Aganglionic megacolon
26040	SETBP1	HP:0100716	Self-injurious behavior
26040	SETBP1	HP:0009748	Large earlobe
26040	SETBP1	HP:0007018	Attention deficit hyperactivity disorder
26040	SETBP1	HP:0032075	Splenopancreatic fusion
26040	SETBP1	HP:0007099	Chiari type I malformation
26040	SETBP1	HP:0001052	Nevus flammeus
26040	SETBP1	HP:0002381	Aphasia
26040	SETBP1	HP:0002360	Sleep disturbance
26040	SETBP1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
26040	SETBP1	HP:0002342	Intellectual disability, moderate
26040	SETBP1	HP:0001007	Hirsutism
26040	SETBP1	HP:0002353	EEG abnormality
26040	SETBP1	HP:0009792	Teratoma
26040	SETBP1	HP:0002300	Mutism
26040	SETBP1	HP:0010055	Broad hallux
26040	SETBP1	HP:0010034	Short 1st metacarpal
26040	SETBP1	HP:0000684	Delayed eruption of teeth
26040	SETBP1	HP:0000678	Dental crowding
26040	SETBP1	HP:0001999	Abnormal facial shape
26040	SETBP1	HP:0000664	Synophrys
26040	SETBP1	HP:0012745	Short palpebral fissure
26040	SETBP1	HP:0009104	Aplasia/Hypoplasia of the pubic bone
26040	SETBP1	HP:0000752	Hyperactivity
26040	SETBP1	HP:0012736	Profound global developmental delay
26040	SETBP1	HP:0000765	Abnormal thorax morphology
26040	SETBP1	HP:0000739	Anxiety
26040	SETBP1	HP:0000750	Delayed speech and language development
26040	SETBP1	HP:0000718	Aggressive behavior
26040	SETBP1	HP:0000729	Autistic behavior
26040	SETBP1	HP:0011471	Gastrostomy tube feeding in infancy
26040	SETBP1	HP:0012758	Neurodevelopmental delay
26040	SETBP1	HP:0000787	Nephrolithiasis
26040	SETBP1	HP:0030736	Sacrococcygeal teratoma
26040	SETBP1	HP:0003196	Short nose
26040	SETBP1	HP:0003173	Hypoplastic pubic bone
26040	SETBP1	HP:0004492	Widely patent fontanelles and sutures
26040	SETBP1	HP:0000879	Short sternum
26040	SETBP1	HP:0000890	Long clavicles
26040	SETBP1	HP:0000889	Abnormal clavicle morphology
26040	SETBP1	HP:0000885	Broad ribs
26040	SETBP1	HP:0000813	Bicornuate uterus
26040	SETBP1	HP:0010296	Ankyloglossia
26040	SETBP1	HP:0004554	Generalized hypertrichosis
26040	SETBP1	HP:0000998	Hypertrichosis
26040	SETBP1	HP:0000957	Cafe-au-lait spot
26040	SETBP1	HP:0000954	Single transverse palmar crease
26040	SETBP1	HP:0000935	Thickened cortex of long bones
26040	SETBP1	HP:0045005	Neural tube defect
26040	SETBP1	HP:0000280	Coarse facial features
26040	SETBP1	HP:0000278	Retrognathia
26040	SETBP1	HP:0000260	Wide anterior fontanel
26040	SETBP1	HP:0000276	Long face
26040	SETBP1	HP:0000272	Malar flattening
26040	SETBP1	HP:0006392	Increased density of long bones
26040	SETBP1	HP:0006387	Wide distal femoral metaphysis
26040	SETBP1	HP:0000248	Brachycephaly
26040	SETBP1	HP:0002884	Hepatoblastoma
26040	SETBP1	HP:0000219	Thin upper lip vermilion
26040	SETBP1	HP:0000218	High palate
26040	SETBP1	HP:0001545	Anteriorly placed anus
26040	SETBP1	HP:0002888	Ependymoma
26040	SETBP1	HP:0001531	Failure to thrive in infancy
26040	SETBP1	HP:0001537	Umbilical hernia
26040	SETBP1	HP:0001508	Failure to thrive
26040	SETBP1	HP:0001513	Obesity
26040	SETBP1	HP:0011097	Epileptic spasm
26040	SETBP1	HP:0012385	Camptodactyly
26040	SETBP1	HP:0011039	Abnormal helix morphology
26040	SETBP1	HP:0006532	Recurrent pneumonia
26040	SETBP1	HP:0002938	Lumbar hyperlordosis
26040	SETBP1	HP:0001605	Vocal cord paralysis
26040	SETBP1	HP:0001601	Laryngomalacia
26040	SETBP1	HP:0000365	Hearing impairment
26040	SETBP1	HP:0000356	Abnormality of the outer ear
26040	SETBP1	HP:0000375	Abnormal cochlea morphology
26040	SETBP1	HP:0000369	Low-set ears
26040	SETBP1	HP:0000341	Narrow forehead
26040	SETBP1	HP:0000340	Sloping forehead
26040	SETBP1	HP:0000343	Long philtrum
26040	SETBP1	HP:0012324	Myeloid leukemia
26040	SETBP1	HP:0000337	Broad forehead
26040	SETBP1	HP:0000348	High forehead
26040	SETBP1	HP:0000347	Micrognathia
26040	SETBP1	HP:0002982	Tibial bowing
26040	SETBP1	HP:0000316	Hypertelorism
26040	SETBP1	HP:0002974	Radioulnar synostosis
26040	SETBP1	HP:0000329	Facial hemangioma
26040	SETBP1	HP:0000322	Short philtrum
26040	SETBP1	HP:0001627	Abnormal heart morphology
26040	SETBP1	HP:0000307	Pointed chin
26040	SETBP1	HP:0001631	Atrial septal defect
26040	SETBP1	HP:0005349	Hypoplasia of the epiglottis
26040	SETBP1	HP:0006657	Hypoplasia of first ribs
26040	SETBP1	HP:0001739	Abnormal nasopharynx morphology
26040	SETBP1	HP:0001734	Annular pancreas
26040	SETBP1	HP:0005280	Depressed nasal bridge
26040	SETBP1	HP:0000483	Astigmatism
26040	SETBP1	HP:0000486	Strabismus
26040	SETBP1	HP:0012471	Thick vermilion border
26040	SETBP1	HP:0000494	Downslanted palpebral fissures
26040	SETBP1	HP:0000490	Deeply set eye
26040	SETBP1	HP:0001795	Hyperconvex nail
26040	SETBP1	HP:0000463	Anteverted nares
26040	SETBP1	HP:0000455	Broad nasal tip
26040	SETBP1	HP:0000470	Short neck
26040	SETBP1	HP:0012433	Abnormal social behavior
26040	SETBP1	HP:0000452	Choanal stenosis
26040	SETBP1	HP:0000445	Wide nose
26040	SETBP1	HP:0001762	Talipes equinovarus
26040	SETBP1	HP:0001761	Pes cavus
26040	SETBP1	HP:0005495	Metopic suture patent to nasal root
26040	SETBP1	HP:0001845	Overlapping toe
26040	SETBP1	HP:0001852	Sandal gap
26040	SETBP1	HP:0000520	Proptosis
26040	SETBP1	HP:0000522	Alacrima
26040	SETBP1	HP:0000508	Ptosis
26040	SETBP1	HP:0000505	Visual impairment
26040	SETBP1	HP:0000586	Shallow orbits
26040	SETBP1	HP:0011220	Prominent forehead
26040	SETBP1	HP:0000540	Hypermetropia
26040	SETBP1	HP:0000545	Myopia
26047	CNTNAP2	HP:0002465	Poor speech
26047	CNTNAP2	HP:0002463	Language impairment
26047	CNTNAP2	HP:0025160	Abnormal temper tantrums
26047	CNTNAP2	HP:0010863	Receptive language delay
26047	CNTNAP2	HP:0010864	Intellectual disability, severe
26047	CNTNAP2	HP:0001290	Generalized hypotonia
26047	CNTNAP2	HP:0001270	Motor delay
26047	CNTNAP2	HP:0001268	Mental deterioration
26047	CNTNAP2	HP:0001284	Areflexia
26047	CNTNAP2	HP:0001250	Seizure
26047	CNTNAP2	HP:0001252	Hypotonia
26047	CNTNAP2	HP:0001251	Ataxia
26047	CNTNAP2	HP:0001249	Intellectual disability
26047	CNTNAP2	HP:0001265	Hyporeflexia
26047	CNTNAP2	HP:0001263	Global developmental delay
26047	CNTNAP2	HP:0001257	Spasticity
26047	CNTNAP2	HP:0007359	Focal-onset seizure
26047	CNTNAP2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
26047	CNTNAP2	HP:0002539	Cortical dysplasia
26047	CNTNAP2	HP:0012001	EEG with generalized polyspikes
26047	CNTNAP2	HP:0001344	Absent speech
26047	CNTNAP2	HP:0000007	Autosomal recessive inheritance
26047	CNTNAP2	HP:0001315	Reduced tendon reflexes
26047	CNTNAP2	HP:0012171	Stereotypical hand wringing
26047	CNTNAP2	HP:0012166	Skin-picking
26047	CNTNAP2	HP:0002061	Lower limb spasticity
26047	CNTNAP2	HP:0002133	Status epilepticus
26047	CNTNAP2	HP:0002197	Generalized-onset seizure
26047	CNTNAP2	HP:0002194	Delayed gross motor development
26047	CNTNAP2	HP:0003593	Infantile onset
26047	CNTNAP2	HP:0002269	Abnormality of neuronal migration
26047	CNTNAP2	HP:0002240	Hepatomegaly
26047	CNTNAP2	HP:0004879	Intermittent hyperventilation
26047	CNTNAP2	HP:0007018	Attention deficit hyperactivity disorder
26047	CNTNAP2	HP:0011968	Feeding difficulties
26047	CNTNAP2	HP:0032046	Focal cortical dysplasia
26047	CNTNAP2	HP:0007064	Progressive language deterioration
26047	CNTNAP2	HP:0002384	Focal impaired awareness seizure
26047	CNTNAP2	HP:0002342	Intellectual disability, moderate
26047	CNTNAP2	HP:0002353	EEG abnormality
26047	CNTNAP2	HP:0002349	Focal aware seizure
26047	CNTNAP2	HP:0010845	EEG with generalized slow activity
26047	CNTNAP2	HP:0006855	Cerebellar vermis atrophy
26047	CNTNAP2	HP:0000639	Nystagmus
26047	CNTNAP2	HP:0006970	Periventricular leukomalacia
26047	CNTNAP2	HP:0031936	Delayed ability to walk
26047	CNTNAP2	HP:0000752	Hyperactivity
26047	CNTNAP2	HP:0100021	Cerebral palsy
26047	CNTNAP2	HP:0000735	Impaired social interactions
26047	CNTNAP2	HP:0000750	Delayed speech and language development
26047	CNTNAP2	HP:0000744	Low frustration tolerance
26047	CNTNAP2	HP:0000742	Self-mutilation
26047	CNTNAP2	HP:0000718	Aggressive behavior
26047	CNTNAP2	HP:0000717	Autism
26047	CNTNAP2	HP:0000729	Autistic behavior
26047	CNTNAP2	HP:0000708	Atypical behavior
26047	CNTNAP2	HP:0012757	Abnormal neuron morphology
26047	CNTNAP2	HP:0000817	Reduced eye contact
26047	CNTNAP2	HP:0000826	Precocious puberty
26047	CNTNAP2	HP:0100258	Preaxial polydactyly
26047	CNTNAP2	HP:0000280	Coarse facial features
26047	CNTNAP2	HP:0000256	Macrocephaly
26047	CNTNAP2	HP:0002883	Hyperventilation
26047	CNTNAP2	HP:0001513	Obesity
26047	CNTNAP2	HP:0000316	Hypertelorism
26047	CNTNAP2	HP:0011193	EEG with focal spikes
26047	CNTNAP2	HP:0011198	EEG with generalized epileptiform discharges
26047	CNTNAP2	HP:0011182	Interictal epileptiform activity
26047	CNTNAP2	HP:0000494	Downslanted palpebral fissures
26047	CNTNAP2	HP:0001761	Pes cavus
26053	AUTS2	HP:0025112	Auditory sensitivity
26053	AUTS2	HP:0010862	Delayed fine motor development
26053	AUTS2	HP:0001290	Generalized hypotonia
26053	AUTS2	HP:0001276	Hypertonia
26053	AUTS2	HP:0001250	Seizure
26053	AUTS2	HP:0001249	Intellectual disability
26053	AUTS2	HP:0001263	Global developmental delay
26053	AUTS2	HP:0001257	Spasticity
26053	AUTS2	HP:0008762	Repetitive compulsive behavior
26053	AUTS2	HP:0002553	Highly arched eyebrow
26053	AUTS2	HP:0000023	Inguinal hernia
26053	AUTS2	HP:0001347	Hyperreflexia
26053	AUTS2	HP:0000028	Cryptorchidism
26053	AUTS2	HP:0008872	Feeding difficulties in infancy
26053	AUTS2	HP:0006184	Decreased palmar creases
26053	AUTS2	HP:0001328	Specific learning disability
26053	AUTS2	HP:0000006	Autosomal dominant inheritance
26053	AUTS2	HP:0002650	Scoliosis
26053	AUTS2	HP:0000160	Narrow mouth
26053	AUTS2	HP:0001488	Bilateral ptosis
26053	AUTS2	HP:0000154	Wide mouth
26053	AUTS2	HP:0002002	Deep philtrum
26053	AUTS2	HP:0009473	Joint contracture of the hand
26053	AUTS2	HP:0003593	Infantile onset
26053	AUTS2	HP:0007018	Attention deficit hyperactivity disorder
26053	AUTS2	HP:0011968	Feeding difficulties
26053	AUTS2	HP:0003623	Neonatal onset
26053	AUTS2	HP:0004209	Clinodactyly of the 5th finger
26053	AUTS2	HP:0004283	Narrow palm
26053	AUTS2	HP:0001999	Abnormal facial shape
26053	AUTS2	HP:0004322	Short stature
26053	AUTS2	HP:0012745	Short palpebral fissure
26053	AUTS2	HP:0000752	Hyperactivity
26053	AUTS2	HP:0100021	Cerebral palsy
26053	AUTS2	HP:0000733	Abnormal repetitive mannerisms
26053	AUTS2	HP:0000750	Delayed speech and language development
26053	AUTS2	HP:0000729	Autistic behavior
26053	AUTS2	HP:0000722	Compulsive behaviors
26053	AUTS2	HP:0009183	Joint contracture of the 5th finger
26053	AUTS2	HP:0100277	Periauricular skin pits
26053	AUTS2	HP:0000964	Eczema
26053	AUTS2	HP:0000286	Epicanthus
26053	AUTS2	HP:0000278	Retrognathia
26053	AUTS2	HP:0002808	Kyphosis
26053	AUTS2	HP:0002803	Congenital contracture
26053	AUTS2	HP:0002804	Arthrogryposis multiplex congenita
26053	AUTS2	HP:0000252	Microcephaly
26053	AUTS2	HP:0000248	Brachycephaly
26053	AUTS2	HP:0001537	Umbilical hernia
26053	AUTS2	HP:0001518	Small for gestational age
26053	AUTS2	HP:0001511	Intrauterine growth retardation
26053	AUTS2	HP:0000369	Low-set ears
26053	AUTS2	HP:0000347	Micrognathia
26053	AUTS2	HP:0000316	Hypertelorism
26053	AUTS2	HP:0000322	Short philtrum
26053	AUTS2	HP:0001627	Abnormal heart morphology
26053	AUTS2	HP:0001631	Atrial septal defect
26053	AUTS2	HP:0005274	Prominent nasal tip
26053	AUTS2	HP:0005280	Depressed nasal bridge
26053	AUTS2	HP:0000486	Strabismus
26053	AUTS2	HP:0012471	Thick vermilion border
26053	AUTS2	HP:0000494	Downslanted palpebral fissures
26053	AUTS2	HP:0000463	Anteverted nares
26053	AUTS2	HP:0012443	Abnormality of brain morphology
26053	AUTS2	HP:0001760	Abnormal foot morphology
26053	AUTS2	HP:0000431	Wide nasal bridge
26053	AUTS2	HP:0000520	Proptosis
26053	AUTS2	HP:0000508	Ptosis
26053	AUTS2	HP:0000582	Upslanted palpebral fissure
26053	AUTS2	HP:0000574	Thick eyebrow
26057	ANKRD17	HP:0009928	Thick nasal alae
26057	ANKRD17	HP:0009890	High anterior hairline
26057	ANKRD17	HP:0001270	Motor delay
26057	ANKRD17	HP:0001250	Seizure
26057	ANKRD17	HP:0001263	Global developmental delay
26057	ANKRD17	HP:0001382	Joint hypermobility
26057	ANKRD17	HP:0008897	Postnatal growth retardation
26057	ANKRD17	HP:0000006	Autosomal dominant inheritance
26057	ANKRD17	HP:0002650	Scoliosis
26057	ANKRD17	HP:0000175	Cleft palate
26057	ANKRD17	HP:0410030	Cleft lip
26057	ANKRD17	HP:0000122	Unilateral renal agenesis
26057	ANKRD17	HP:0002750	Delayed skeletal maturation
26057	ANKRD17	HP:0002719	Recurrent infections
26057	ANKRD17	HP:0011800	Midface retrusion
26057	ANKRD17	HP:0007018	Attention deficit hyperactivity disorder
26057	ANKRD17	HP:0011968	Feeding difficulties
26057	ANKRD17	HP:0002353	EEG abnormality
26057	ANKRD17	HP:0000629	Periorbital fullness
26057	ANKRD17	HP:0004322	Short stature
26057	ANKRD17	HP:0000750	Delayed speech and language development
26057	ANKRD17	HP:0000729	Autistic behavior
26057	ANKRD17	HP:0000256	Macrocephaly
26057	ANKRD17	HP:0000252	Microcephaly
26057	ANKRD17	HP:0000248	Brachycephaly
26057	ANKRD17	HP:0000219	Thin upper lip vermilion
26057	ANKRD17	HP:0000201	Pierre-Robin sequence
26057	ANKRD17	HP:0007874	Almond-shaped palpebral fissure
26057	ANKRD17	HP:0000319	Smooth philtrum
26057	ANKRD17	HP:0000322	Short philtrum
26057	ANKRD17	HP:0000325	Triangular face
26057	ANKRD17	HP:0000486	Strabismus
26057	ANKRD17	HP:0000490	Deeply set eye
26057	ANKRD17	HP:0000454	Flared nostrils
26057	ANKRD17	HP:0000582	Upslanted palpebral fissure
26058	GIGYF2	HP:0001268	Mental deterioration
26058	GIGYF2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
26058	GIGYF2	HP:0001332	Dystonia
26058	GIGYF2	HP:0000006	Autosomal dominant inheritance
26058	GIGYF2	HP:0001300	Parkinsonism
26058	GIGYF2	HP:0002015	Dysphagia
26058	GIGYF2	HP:0002067	Bradykinesia
26058	GIGYF2	HP:0003394	Muscle spasm
26058	GIGYF2	HP:0002063	Rigidity
26058	GIGYF2	HP:0002120	Cerebral cortical atrophy
26058	GIGYF2	HP:0002171	Gliosis
26058	GIGYF2	HP:0002172	Postural instability
26058	GIGYF2	HP:0100710	Impulsivity
26058	GIGYF2	HP:0100753	Schizophrenia
26058	GIGYF2	HP:0002367	Visual hallucinations
26058	GIGYF2	HP:0002362	Shuffling gait
26058	GIGYF2	HP:0002360	Sleep disturbance
26058	GIGYF2	HP:0002359	Frequent falls
26058	GIGYF2	HP:0002322	Resting tremor
26058	GIGYF2	HP:0100660	Dyskinesia
26058	GIGYF2	HP:0002304	Akinesia
26058	GIGYF2	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
26058	GIGYF2	HP:0000651	Diplopia
26058	GIGYF2	HP:0000744	Low frustration tolerance
26058	GIGYF2	HP:0000741	Apathy
26058	GIGYF2	HP:0000716	Depression
26058	GIGYF2	HP:0000713	Agitation
26058	GIGYF2	HP:0000726	Dementia
26058	GIGYF2	HP:0004409	Hyposmia
26058	GIGYF2	HP:0100315	Lewy bodies
26058	GIGYF2	HP:0031435	Monotonic speech
26058	GIGYF2	HP:0000338	Hypomimic face
26058	GIGYF2	HP:0005340	Spastic/hyperactive bladder
26058	GIGYF2	HP:0012450	Chronic constipation
26058	GIGYF2	HP:0001824	Weight loss
26060	APPL1	HP:0002594	Pancreatic hypoplasia
26060	APPL1	HP:0000077	Abnormality of the kidney
26060	APPL1	HP:0012028	Hepatocellular adenoma
26060	APPL1	HP:0000006	Autosomal dominant inheritance
26060	APPL1	HP:0000119	Abnormality of the genitourinary system
26060	APPL1	HP:0000112	Nephropathy
26060	APPL1	HP:0000107	Renal cyst
26060	APPL1	HP:0008255	Transient neonatal diabetes mellitus
26060	APPL1	HP:0003596	Middle age onset
26060	APPL1	HP:0004924	Abnormal oral glucose tolerance
26060	APPL1	HP:0004904	Maturity-onset diabetes of the young
26060	APPL1	HP:0001953	Diabetic ketoacidosis
26060	APPL1	HP:0001952	Glucose intolerance
26060	APPL1	HP:0001998	Neonatal hypoglycemia
26060	APPL1	HP:0003076	Glycosuria
26060	APPL1	HP:0003074	Hyperglycemia
26060	APPL1	HP:0011462	Young adult onset
26060	APPL1	HP:0030794	Abnormal circulating C-peptide concentration
26060	APPL1	HP:0000831	Insulin-resistant diabetes mellitus
26060	APPL1	HP:0000819	Diabetes mellitus
26060	APPL1	HP:0000825	Hyperinsulinemic hypoglycemia
26060	APPL1	HP:0040214	Abnormal circulating insulin concentration
26060	APPL1	HP:0040217	Elevated hemoglobin A1c
26060	APPL1	HP:0040216	Hypoinsulinemia
26060	APPL1	HP:0000956	Acanthosis nigricans
26060	APPL1	HP:0030057	Autoimmune antibody positivity
26060	APPL1	HP:0025502	Overweight
26060	APPL1	HP:0001520	Large for gestational age
26060	APPL1	HP:0001511	Intrauterine growth retardation
26060	APPL1	HP:0001513	Obesity
26060	APPL1	HP:0001738	Exocrine pancreatic insufficiency
26060	APPL1	HP:0000488	Retinopathy
26090	ABHD12	HP:0001272	Cerebellar atrophy
26090	ABHD12	HP:0001251	Ataxia
26090	ABHD12	HP:0001265	Hyporeflexia
26090	ABHD12	HP:0001260	Dysarthria
26090	ABHD12	HP:0001257	Spasticity
26090	ABHD12	HP:0001347	Hyperreflexia
26090	ABHD12	HP:0000007	Autosomal recessive inheritance
26090	ABHD12	HP:0001310	Dysmetria
26090	ABHD12	HP:0002080	Intention tremor
26090	ABHD12	HP:0003487	Babinski sign
26090	ABHD12	HP:0003693	Distal amyotrophy
26090	ABHD12	HP:0003677	Slowly progressive
26090	ABHD12	HP:0007141	Sensorimotor neuropathy
26090	ABHD12	HP:0007108	Demyelinating peripheral neuropathy
26090	ABHD12	HP:0003621	Juvenile onset
26090	ABHD12	HP:0000639	Nystagmus
26090	ABHD12	HP:0000648	Optic atrophy
26090	ABHD12	HP:0000762	Decreased nerve conduction velocity
26090	ABHD12	HP:0011463	Childhood onset
26090	ABHD12	HP:0011462	Young adult onset
26090	ABHD12	HP:0002936	Distal sensory impairment
26090	ABHD12	HP:0000407	Sensorineural hearing impairment
26090	ABHD12	HP:0001771	Achilles tendon contracture
26090	ABHD12	HP:0001761	Pes cavus
26090	ABHD12	HP:0000518	Cataract
26090	ABHD12	HP:0000510	Rod-cone dystrophy
26090	ABHD12	HP:0000523	Subcapsular cataract
26092	TOR1AIP1	HP:0002460	Distal muscle weakness
26092	TOR1AIP1	HP:0032359	Decreased forced expiratory flow 25-75%
26092	TOR1AIP1	HP:0001324	Muscle weakness
26092	TOR1AIP1	HP:0000007	Autosomal recessive inheritance
26092	TOR1AIP1	HP:0003306	Spinal rigidity
26092	TOR1AIP1	HP:0100490	Camptodactyly of finger
26092	TOR1AIP1	HP:0003551	Difficulty climbing stairs
26092	TOR1AIP1	HP:0003560	Muscular dystrophy
26092	TOR1AIP1	HP:0003557	Increased variability in muscle fiber diameter
26092	TOR1AIP1	HP:0009697	Contracture of the distal interphalangeal joint of the fingers
26092	TOR1AIP1	HP:0003687	Centrally nucleated skeletal muscle fibers
26092	TOR1AIP1	HP:0003677	Slowly progressive
26092	TOR1AIP1	HP:0003621	Juvenile onset
26092	TOR1AIP1	HP:0007181	Interosseus muscle atrophy
26092	TOR1AIP1	HP:0003236	Elevated circulating creatine kinase concentration
26092	TOR1AIP1	HP:0034392	Joint contracture
26092	TOR1AIP1	HP:0100297	Increased endomysial connective tissue
26092	TOR1AIP1	HP:0006466	Ankle flexion contracture
26092	TOR1AIP1	HP:0006682	Premature ventricular contraction
26092	TOR1AIP1	HP:0025708	Early young adult onset
26100	WIPI2	HP:0002465	Poor speech
26100	WIPI2	HP:0010864	Intellectual disability, severe
26100	WIPI2	HP:0001260	Dysarthria
26100	WIPI2	HP:0001263	Global developmental delay
26100	WIPI2	HP:0000007	Autosomal recessive inheritance
26100	WIPI2	HP:0002059	Cerebral atrophy
26100	WIPI2	HP:0100660	Dyskinesia
26100	WIPI2	HP:0009778	Short thumb
26100	WIPI2	HP:0004209	Clinodactyly of the 5th finger
26100	WIPI2	HP:0004322	Short stature
26100	WIPI2	HP:0000750	Delayed speech and language development
26100	WIPI2	HP:0011675	Arrhythmia
26100	WIPI2	HP:0002808	Kyphosis
26100	WIPI2	HP:0012385	Camptodactyly
26100	WIPI2	HP:0001845	Overlapping toe
26115	TANC2	HP:0002497	Spastic ataxia
26115	TANC2	HP:0001290	Generalized hypotonia
26115	TANC2	HP:0001270	Motor delay
26115	TANC2	HP:0001250	Seizure
26115	TANC2	HP:0001249	Intellectual disability
26115	TANC2	HP:0001382	Joint hypermobility
26115	TANC2	HP:0001363	Craniosynostosis
26115	TANC2	HP:0000006	Autosomal dominant inheritance
26115	TANC2	HP:0002650	Scoliosis
26115	TANC2	HP:0007018	Attention deficit hyperactivity disorder
26115	TANC2	HP:0002360	Sleep disturbance
26115	TANC2	HP:0002376	Developmental regression
26115	TANC2	HP:0000687	Widely spaced teeth
26115	TANC2	HP:0000739	Anxiety
26115	TANC2	HP:0000750	Delayed speech and language development
26115	TANC2	HP:0000729	Autistic behavior
26115	TANC2	HP:0000252	Microcephaly
26115	TANC2	HP:0012450	Chronic constipation
26119	LDLRAP1	HP:0001138	Optic neuropathy
26119	LDLRAP1	HP:0010874	Tendon xanthomatosis
26119	LDLRAP1	HP:0001397	Hepatic steatosis
26119	LDLRAP1	HP:0000007	Autosomal recessive inheritance
26119	LDLRAP1	HP:0002621	Atherosclerosis
26119	LDLRAP1	HP:0002094	Dyspnea
26119	LDLRAP1	HP:0002155	Hypertriglyceridemia
26119	LDLRAP1	HP:0003563	Decreased LDL cholesterol concentration
26119	LDLRAP1	HP:0007201	Cerebral artery atherosclerosis
26119	LDLRAP1	HP:0004963	Calcification of the aorta
26119	LDLRAP1	HP:0004950	Peripheral arterial stenosis
26119	LDLRAP1	HP:0001920	Renal artery stenosis
26119	LDLRAP1	HP:0012638	Abnormal nervous system physiology
26119	LDLRAP1	HP:0003077	Hyperlipidemia
26119	LDLRAP1	HP:0004381	Supravalvular aortic stenosis
26119	LDLRAP1	HP:0000799	Renal steatosis
26119	LDLRAP1	HP:0003124	Hypercholesterolemia
26119	LDLRAP1	HP:0004416	Precocious atherosclerosis
26119	LDLRAP1	HP:0003141	Increased LDL cholesterol concentration
26119	LDLRAP1	HP:0000822	Hypertension
26119	LDLRAP1	HP:0030882	Coronary artery aneurysm
26119	LDLRAP1	HP:0100261	Abnormal tendon morphology
26119	LDLRAP1	HP:0000991	Xanthomatosis
26119	LDLRAP1	HP:0002829	Arthralgia
26119	LDLRAP1	HP:0012397	Aortic atherosclerotic lesion
26119	LDLRAP1	HP:0012373	Abnormal eye physiology
26119	LDLRAP1	HP:0005177	Premature arteriosclerosis
26119	LDLRAP1	HP:0005181	Premature coronary artery atherosclerosis
26119	LDLRAP1	HP:0005162	Abnormal left ventricular function
26119	LDLRAP1	HP:0001681	Angina pectoris
26119	LDLRAP1	HP:0001677	Coronary artery atherosclerosis
26119	LDLRAP1	HP:0001645	Sudden cardiac death
26119	LDLRAP1	HP:0030148	Heart murmur
26119	LDLRAP1	HP:0001658	Myocardial infarction
26119	LDLRAP1	HP:0001653	Mitral regurgitation
26119	LDLRAP1	HP:0006693	Myocardial steatosis
26119	LDLRAP1	HP:3000062	Abnormal internal carotid artery morphology
26121	PRPF31	HP:0001133	Constriction of peripheral visual field
26121	PRPF31	HP:0001249	Intellectual disability
26121	PRPF31	HP:0007401	Macular atrophy
26121	PRPF31	HP:0008736	Hypoplasia of penis
26121	PRPF31	HP:0003829	Typified by incomplete penetrance
26121	PRPF31	HP:0001347	Hyperreflexia
26121	PRPF31	HP:0000035	Abnormal testis morphology
26121	PRPF31	HP:0000006	Autosomal dominant inheritance
26121	PRPF31	HP:0000135	Hypogonadism
26121	PRPF31	HP:0007675	Progressive night blindness
26121	PRPF31	HP:0007663	Reduced visual acuity
26121	PRPF31	HP:0005978	Type II diabetes mellitus
26121	PRPF31	HP:0000639	Nystagmus
26121	PRPF31	HP:0000648	Optic atrophy
26121	PRPF31	HP:0000618	Blindness
26121	PRPF31	HP:0000613	Photophobia
26121	PRPF31	HP:0000608	Macular degeneration
26121	PRPF31	HP:0000602	Ophthalmoplegia
26121	PRPF31	HP:0000662	Nyctalopia
26121	PRPF31	HP:0030629	Perifoveal ring of hyperautofluorescence
26121	PRPF31	HP:0000842	Hyperinsulinemia
26121	PRPF31	HP:0040049	Macular edema
26121	PRPF31	HP:0000987	Atypical scarring of skin
26121	PRPF31	HP:0008046	Abnormal retinal vascular morphology
26121	PRPF31	HP:0007703	Abnormality of retinal pigmentation
26121	PRPF31	HP:0007737	Bone spicule pigmentation of the retina
26121	PRPF31	HP:0001513	Obesity
26121	PRPF31	HP:0000407	Sensorineural hearing impairment
26121	PRPF31	HP:0000405	Conductive hearing impairment
26121	PRPF31	HP:0000463	Anteverted nares
26121	PRPF31	HP:0000431	Wide nasal bridge
26121	PRPF31	HP:0000518	Cataract
26121	PRPF31	HP:0000510	Rod-cone dystrophy
26121	PRPF31	HP:0000512	Abnormal electroretinogram
26121	PRPF31	HP:0000505	Visual impairment
26121	PRPF31	HP:0000501	Glaucoma
26121	PRPF31	HP:0000563	Keratoconus
26121	PRPF31	HP:0000543	Optic disc pallor
26123	TCTN3	HP:0001177	Preaxial hand polydactyly
26123	TCTN3	HP:0001171	Split hand
26123	TCTN3	HP:0001156	Brachydactyly
26123	TCTN3	HP:0001162	Postaxial hand polydactyly
26123	TCTN3	HP:0001161	Hand polydactyly
26123	TCTN3	HP:0001159	Syndactyly
26123	TCTN3	HP:0002444	Hypothalamic hamartoma
26123	TCTN3	HP:0002419	Molar tooth sign on MRI
26123	TCTN3	HP:0001290	Generalized hypotonia
26123	TCTN3	HP:0001274	Agenesis of corpus callosum
26123	TCTN3	HP:0001288	Gait disturbance
26123	TCTN3	HP:0001250	Seizure
26123	TCTN3	HP:0001252	Hypotonia
26123	TCTN3	HP:0001251	Ataxia
26123	TCTN3	HP:0001249	Intellectual disability
26123	TCTN3	HP:0001263	Global developmental delay
26123	TCTN3	HP:0006101	Finger syndactyly
26123	TCTN3	HP:0008734	Decreased testicular size
26123	TCTN3	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
26123	TCTN3	HP:0008689	Bilateral cryptorchidism
26123	TCTN3	HP:0008678	Renal hypoplasia/aplasia
26123	TCTN3	HP:0002553	Highly arched eyebrow
26123	TCTN3	HP:0000085	Horseshoe kidney
26123	TCTN3	HP:0000068	Urethral atresia
26123	TCTN3	HP:0000062	Ambiguous genitalia
26123	TCTN3	HP:0000073	Ureteral duplication
26123	TCTN3	HP:0001373	Joint dislocation
26123	TCTN3	HP:0000037	Male pseudohermaphroditism
26123	TCTN3	HP:0001367	Abnormal joint morphology
26123	TCTN3	HP:0001388	Joint laxity
26123	TCTN3	HP:0000028	Cryptorchidism
26123	TCTN3	HP:0008872	Feeding difficulties in infancy
26123	TCTN3	HP:0006145	Central Y-shaped metacarpal
26123	TCTN3	HP:0001328	Specific learning disability
26123	TCTN3	HP:0000007	Autosomal recessive inheritance
26123	TCTN3	HP:0000003	Multicystic kidney dysplasia
26123	TCTN3	HP:0001337	Tremor
26123	TCTN3	HP:0001305	Dandy-Walker malformation
26123	TCTN3	HP:0001320	Cerebellar vermis hypoplasia
26123	TCTN3	HP:0002612	Congenital hepatic fibrosis
26123	TCTN3	HP:0000180	Lobulated tongue
26123	TCTN3	HP:0000199	Tongue nodules
26123	TCTN3	HP:0000193	Bifid uvula
26123	TCTN3	HP:0000190	Abnormal oral frenulum morphology
26123	TCTN3	HP:0000191	Accessory oral frenulum
26123	TCTN3	HP:0000161	Median cleft lip
26123	TCTN3	HP:0012157	Subcortical cerebral atrophy
26123	TCTN3	HP:0000157	Abnormality of the tongue
26123	TCTN3	HP:0000176	Submucous cleft hard palate
26123	TCTN3	HP:0000175	Cleft palate
26123	TCTN3	HP:0000168	Abnormality of the gingiva
26123	TCTN3	HP:0000143	Rectovaginal fistula
26123	TCTN3	HP:0002705	High, narrow palate
26123	TCTN3	HP:0000107	Renal cyst
26123	TCTN3	HP:0000104	Renal agenesis
26123	TCTN3	HP:0002751	Kyphoscoliosis
26123	TCTN3	HP:0002023	Anal atresia
26123	TCTN3	HP:0002007	Frontal bossing
26123	TCTN3	HP:0005944	Bilateral lung agenesis
26123	TCTN3	HP:0011802	Hamartoma of tongue
26123	TCTN3	HP:0002089	Pulmonary hypoplasia
26123	TCTN3	HP:0002085	Occipital encephalocele
26123	TCTN3	HP:0002084	Encephalocele
26123	TCTN3	HP:0002059	Cerebral atrophy
26123	TCTN3	HP:0010469	Absent testis
26123	TCTN3	HP:0010459	True hermaphroditism
26123	TCTN3	HP:0002139	Arrhinencephaly
26123	TCTN3	HP:0002120	Cerebral cortical atrophy
26123	TCTN3	HP:0002132	Porencephalic cyst
26123	TCTN3	HP:0002104	Apnea
26123	TCTN3	HP:0100490	Camptodactyly of finger
26123	TCTN3	HP:0010566	Hamartoma
26123	TCTN3	HP:0008207	Primary adrenal insufficiency
26123	TCTN3	HP:0011830	Abnormal oral mucosa morphology
26123	TCTN3	HP:0002269	Abnormality of neuronal migration
26123	TCTN3	HP:0003577	Congenital onset
26123	TCTN3	HP:0004871	Perineal fistula
26123	TCTN3	HP:0002205	Recurrent respiratory infections
26123	TCTN3	HP:0100732	Pancreatic fibrosis
26123	TCTN3	HP:0007036	Hypoplasia of olfactory tract
26123	TCTN3	HP:0011968	Feeding difficulties
26123	TCTN3	HP:0003510	Severe short stature
26123	TCTN3	HP:0025023	Rectal atresia
26123	TCTN3	HP:0002335	Agenesis of cerebellar vermis
26123	TCTN3	HP:0002323	Anencephaly
26123	TCTN3	HP:0006870	Lobar holoprosencephaly
26123	TCTN3	HP:0009084	Midline notch of upper alveolar ridge
26123	TCTN3	HP:0034044	Trident pelvis
26123	TCTN3	HP:0000639	Nystagmus
26123	TCTN3	HP:0000648	Optic atrophy
26123	TCTN3	HP:0000647	Sclerocornea
26123	TCTN3	HP:0004322	Short stature
26123	TCTN3	HP:0030680	Abnormality of cardiovascular system morphology
26123	TCTN3	HP:0034198	Second trimester onset
26123	TCTN3	HP:0000767	Pectus excavatum
26123	TCTN3	HP:0009118	Aplasia/Hypoplasia of the mandible
26123	TCTN3	HP:0005772	Aplasia/Hypoplasia of the tibia
26123	TCTN3	HP:0004422	Biparietal narrowing
26123	TCTN3	HP:0005736	Short tibia
26123	TCTN3	HP:0003196	Short nose
26123	TCTN3	HP:0100308	Cerebral cortical hemiatrophy
26123	TCTN3	HP:0010295	Aplasia/Hypoplasia of the tongue
26123	TCTN3	HP:0040019	Finger clinodactyly
26123	TCTN3	HP:0010285	Oral synechia
26123	TCTN3	HP:0030868	Monorchism
26123	TCTN3	HP:0100260	Mesoaxial polydactyly
26123	TCTN3	HP:0100259	Postaxial polydactyly
26123	TCTN3	HP:0100258	Preaxial polydactyly
26123	TCTN3	HP:0009381	Short finger
26123	TCTN3	HP:0008053	Aplasia/Hypoplasia of the iris
26123	TCTN3	HP:0000286	Epicanthus
26123	TCTN3	HP:0000278	Retrognathia
26123	TCTN3	HP:0000293	Full cheeks
26123	TCTN3	HP:0000276	Long face
26123	TCTN3	HP:0030084	Clinodactyly
26123	TCTN3	HP:0000238	Hydrocephalus
26123	TCTN3	HP:0000252	Microcephaly
26123	TCTN3	HP:0000221	Furrowed tongue
26123	TCTN3	HP:0000218	High palate
26123	TCTN3	HP:0002876	Episodic tachypnea
26123	TCTN3	HP:0001562	Oligohydramnios
26123	TCTN3	HP:0000202	Orofacial cleft
26123	TCTN3	HP:0001508	Failure to thrive
26123	TCTN3	HP:0001511	Intrauterine growth retardation
26123	TCTN3	HP:0001510	Growth delay
26123	TCTN3	HP:0012385	Camptodactyly
26123	TCTN3	HP:0005248	Intrahepatic biliary atresia
26123	TCTN3	HP:0001601	Laryngomalacia
26123	TCTN3	HP:0006487	Bowing of the long bones
26123	TCTN3	HP:0001696	Situs inversus totalis
26123	TCTN3	HP:0000356	Abnormality of the outer ear
26123	TCTN3	HP:0000358	Posteriorly rotated ears
26123	TCTN3	HP:0000369	Low-set ears
26123	TCTN3	HP:0000368	Low-set, posteriorly rotated ears
26123	TCTN3	HP:0000340	Sloping forehead
26123	TCTN3	HP:0000347	Micrognathia
26123	TCTN3	HP:0002983	Micromelia
26123	TCTN3	HP:0000316	Hypertelorism
26123	TCTN3	HP:0000322	Short philtrum
26123	TCTN3	HP:0001629	Ventricular septal defect
26123	TCTN3	HP:0001627	Abnormal heart morphology
26123	TCTN3	HP:0002970	Genu varum
26123	TCTN3	HP:0001737	Pancreatic cysts
26123	TCTN3	HP:0000405	Conductive hearing impairment
26123	TCTN3	HP:0000482	Microcornea
26123	TCTN3	HP:0000496	Abnormality of eye movement
26123	TCTN3	HP:0000455	Broad nasal tip
26123	TCTN3	HP:0000457	Depressed nasal ridge
26123	TCTN3	HP:0001770	Toe syndactyly
26123	TCTN3	HP:0000453	Choanal atresia
26123	TCTN3	HP:0000445	Wide nose
26123	TCTN3	HP:0001746	Asplenia
26123	TCTN3	HP:0001747	Accessory spleen
26123	TCTN3	HP:0001762	Talipes equinovarus
26123	TCTN3	HP:0000426	Prominent nasal bridge
26123	TCTN3	HP:0006706	Cystic liver disease
26123	TCTN3	HP:0011267	Microtia, third degree
26123	TCTN3	HP:0000518	Cataract
26123	TCTN3	HP:0000528	Anophthalmia
26123	TCTN3	HP:0000520	Proptosis
26123	TCTN3	HP:0001829	Foot polydactyly
26123	TCTN3	HP:0001830	Postaxial foot polydactyly
26123	TCTN3	HP:0001800	Hypoplastic toenails
26123	TCTN3	HP:0000598	Abnormality of the ear
26123	TCTN3	HP:0011255	Absent crus of helix
26123	TCTN3	HP:0000568	Microphthalmia
26123	TCTN3	HP:0000565	Esotropia
26123	TCTN3	HP:0000532	Abnormal chorioretinal morphology
26123	TCTN3	HP:0001883	Talipes
26128	KIFBP	HP:0001182	Tapered finger
26128	KIFBP	HP:0001250	Seizure
26128	KIFBP	HP:0001252	Hypotonia
26128	KIFBP	HP:0001249	Intellectual disability
26128	KIFBP	HP:0001263	Global developmental delay
26128	KIFBP	HP:0006101	Finger syndactyly
26128	KIFBP	HP:0002553	Highly arched eyebrow
26128	KIFBP	HP:0002509	Limb hypertonia
26128	KIFBP	HP:0000076	Vesicoureteral reflux
26128	KIFBP	HP:0000048	Bifid scrotum
26128	KIFBP	HP:0000047	Hypospadias
26128	KIFBP	HP:0001328	Specific learning disability
26128	KIFBP	HP:0000007	Autosomal recessive inheritance
26128	KIFBP	HP:0001302	Pachygyria
26128	KIFBP	HP:0000175	Cleft palate
26128	KIFBP	HP:0002079	Hypoplasia of the corpus callosum
26128	KIFBP	HP:0002119	Ventriculomegaly
26128	KIFBP	HP:0002126	Polymicrogyria
26128	KIFBP	HP:0003577	Congenital onset
26128	KIFBP	HP:0002251	Aganglionic megacolon
26128	KIFBP	HP:0002209	Sparse scalp hair
26128	KIFBP	HP:0002365	Hypoplasia of the brainstem
26128	KIFBP	HP:0200020	Corneal erosion
26128	KIFBP	HP:0200055	Small hand
26128	KIFBP	HP:0004209	Clinodactyly of the 5th finger
26128	KIFBP	HP:0000612	Iris coloboma
26128	KIFBP	HP:0000677	Oligodontia
26128	KIFBP	HP:0000664	Synophrys
26128	KIFBP	HP:0004322	Short stature
26128	KIFBP	HP:0012704	Widened subarachnoid space
26128	KIFBP	HP:0012804	Corneal ulceration
26128	KIFBP	HP:0045075	Sparse eyebrow
26128	KIFBP	HP:0008070	Sparse hair
26128	KIFBP	HP:0000252	Microcephaly
26128	KIFBP	HP:0000232	Everted lower lip vermilion
26128	KIFBP	HP:0000369	Low-set ears
26128	KIFBP	HP:0000340	Sloping forehead
26128	KIFBP	HP:0000316	Hypertelorism
26128	KIFBP	HP:0000327	Hypoplasia of the maxilla
26128	KIFBP	HP:0001659	Aortic regurgitation
26128	KIFBP	HP:0000322	Short philtrum
26128	KIFBP	HP:0001629	Ventricular septal defect
26128	KIFBP	HP:0000307	Pointed chin
26128	KIFBP	HP:0006610	Wide intermamillary distance
26128	KIFBP	HP:0000400	Macrotia
26128	KIFBP	HP:0000485	Megalocornea
26128	KIFBP	HP:0012471	Thick vermilion border
26128	KIFBP	HP:0000494	Downslanted palpebral fissures
26128	KIFBP	HP:0000470	Short neck
26128	KIFBP	HP:0012427	Increased femoral anteversion
26128	KIFBP	HP:0000414	Bulbous nose
26128	KIFBP	HP:0000431	Wide nasal bridge
26128	KIFBP	HP:0000426	Prominent nasal bridge
26128	KIFBP	HP:0000506	Telecanthus
26128	KIFBP	HP:0000508	Ptosis
26128	KIFBP	HP:0000592	Blue sclerae
26128	KIFBP	HP:0000574	Thick eyebrow
26128	KIFBP	HP:0000540	Hypermetropia
26130	GAPVD1	HP:0003774	Stage 5 chronic kidney disease
26130	GAPVD1	HP:0002586	Peritonitis
26130	GAPVD1	HP:0000097	Focal segmental glomerulosclerosis
26130	GAPVD1	HP:0000093	Proteinuria
26130	GAPVD1	HP:0002027	Abdominal pain
26130	GAPVD1	HP:0100539	Periorbital edema
26130	GAPVD1	HP:0011947	Respiratory tract infection
26130	GAPVD1	HP:0002315	Headache
26130	GAPVD1	HP:0012622	Chronic kidney disease
26130	GAPVD1	HP:0001967	Diffuse mesangial sclerosis
26130	GAPVD1	HP:0001945	Fever
26130	GAPVD1	HP:0003073	Hypoalbuminemia
26130	GAPVD1	HP:0000737	Irritability
26130	GAPVD1	HP:0000707	Abnormality of the nervous system
26130	GAPVD1	HP:0000969	Edema
26130	GAPVD1	HP:0031504	Foamy urine
26130	GAPVD1	HP:0012579	Minimal change glomerulonephritis
26137	ZBTB20	HP:0001115	Posterior polar cataract
26137	ZBTB20	HP:0009882	Short distal phalanx of finger
26137	ZBTB20	HP:0008541	Superiorly displaced ears
26137	ZBTB20	HP:0003745	Sporadic
26137	ZBTB20	HP:0001288	Gait disturbance
26137	ZBTB20	HP:0001250	Seizure
26137	ZBTB20	HP:0001252	Hypotonia
26137	ZBTB20	HP:0001251	Ataxia
26137	ZBTB20	HP:0001249	Intellectual disability
26137	ZBTB20	HP:0001263	Global developmental delay
26137	ZBTB20	HP:0008689	Bilateral cryptorchidism
26137	ZBTB20	HP:0002550	Absent facial hair
26137	ZBTB20	HP:0002514	Cerebral calcification
26137	ZBTB20	HP:0012062	Bone cyst
26137	ZBTB20	HP:0001371	Flexion contracture
26137	ZBTB20	HP:0001385	Hip dysplasia
26137	ZBTB20	HP:0001382	Joint hypermobility
26137	ZBTB20	HP:0001357	Plagiocephaly
26137	ZBTB20	HP:0000028	Cryptorchidism
26137	ZBTB20	HP:0000006	Autosomal dominant inheritance
26137	ZBTB20	HP:0002650	Scoliosis
26137	ZBTB20	HP:0000179	Thick lower lip vermilion
26137	ZBTB20	HP:0000160	Narrow mouth
26137	ZBTB20	HP:0000174	Abnormal palate morphology
26137	ZBTB20	HP:0000135	Hypogonadism
26137	ZBTB20	HP:0002797	Osteolysis
26137	ZBTB20	HP:0006254	Elevated circulating alpha-fetoprotein concentration
26137	ZBTB20	HP:0002714	Downturned corners of mouth
26137	ZBTB20	HP:0040309	Increased size of the mandible
26137	ZBTB20	HP:0003312	Abnormal form of the vertebral bodies
26137	ZBTB20	HP:0003301	Irregular vertebral endplates
26137	ZBTB20	HP:0011800	Midface retrusion
26137	ZBTB20	HP:0002079	Hypoplasia of the corpus callosum
26137	ZBTB20	HP:0002119	Ventriculomegaly
26137	ZBTB20	HP:0002180	Neurodegeneration
26137	ZBTB20	HP:0003577	Congenital onset
26137	ZBTB20	HP:0100716	Self-injurious behavior
26137	ZBTB20	HP:0002221	Absent axillary hair
26137	ZBTB20	HP:0002231	Sparse body hair
26137	ZBTB20	HP:0002209	Sparse scalp hair
26137	ZBTB20	HP:0100789	Torus palatinus
26137	ZBTB20	HP:0100753	Schizophrenia
26137	ZBTB20	HP:0007018	Attention deficit hyperactivity disorder
26137	ZBTB20	HP:0008391	Dystrophic fingernails
26137	ZBTB20	HP:0003693	Distal amyotrophy
26137	ZBTB20	HP:0002360	Sleep disturbance
26137	ZBTB20	HP:0002376	Developmental regression
26137	ZBTB20	HP:0003623	Neonatal onset
26137	ZBTB20	HP:0001956	Truncal obesity
26137	ZBTB20	HP:0001952	Glucose intolerance
26137	ZBTB20	HP:0001903	Anemia
26137	ZBTB20	HP:0000664	Synophrys
26137	ZBTB20	HP:0004322	Short stature
26137	ZBTB20	HP:0004349	Reduced bone mineral density
26137	ZBTB20	HP:0000771	Gynecomastia
26137	ZBTB20	HP:0000767	Pectus excavatum
26137	ZBTB20	HP:0100033	Tics
26137	ZBTB20	HP:0000739	Anxiety
26137	ZBTB20	HP:0000750	Delayed speech and language development
26137	ZBTB20	HP:0000718	Aggressive behavior
26137	ZBTB20	HP:0000717	Autism
26137	ZBTB20	HP:0000711	Restlessness
26137	ZBTB20	HP:0000774	Narrow chest
26137	ZBTB20	HP:0005758	Basilar impression
26137	ZBTB20	HP:0003198	Myopathy
26137	ZBTB20	HP:0000819	Diabetes mellitus
26137	ZBTB20	HP:0000815	Hypergonadotropic hypogonadism
26137	ZBTB20	HP:0000821	Hypothyroidism
26137	ZBTB20	HP:0000823	Delayed puberty
26137	ZBTB20	HP:0003202	Skeletal muscle atrophy
26137	ZBTB20	HP:0003273	Hip contracture
26137	ZBTB20	HP:0000939	Osteoporosis
26137	ZBTB20	HP:0040160	Generalized osteoporosis
26137	ZBTB20	HP:0000286	Epicanthus
26137	ZBTB20	HP:0000256	Macrocephaly
26137	ZBTB20	HP:0000272	Malar flattening
26137	ZBTB20	HP:0005121	Posterior scalloping of vertebral bodies
26137	ZBTB20	HP:0005103	Calcification of the auricular cartilage
26137	ZBTB20	HP:0002808	Kyphosis
26137	ZBTB20	HP:0006380	Knee flexion contracture
26137	ZBTB20	HP:0000238	Hydrocephalus
26137	ZBTB20	HP:0000248	Brachycephaly
26137	ZBTB20	HP:0000218	High palate
26137	ZBTB20	HP:0002857	Genu valgum
26137	ZBTB20	HP:0002868	Narrow iliac wing
26137	ZBTB20	HP:0000365	Hearing impairment
26137	ZBTB20	HP:0000337	Broad forehead
26137	ZBTB20	HP:0000316	Hypertelorism
26137	ZBTB20	HP:0000327	Hypoplasia of the maxilla
26137	ZBTB20	HP:0000405	Conductive hearing impairment
26137	ZBTB20	HP:0000400	Macrotia
26137	ZBTB20	HP:0005280	Depressed nasal bridge
26137	ZBTB20	HP:0000486	Strabismus
26137	ZBTB20	HP:0000494	Downslanted palpebral fissures
26137	ZBTB20	HP:0000490	Deeply set eye
26137	ZBTB20	HP:0000463	Anteverted nares
26137	ZBTB20	HP:0000455	Broad nasal tip
26137	ZBTB20	HP:0001798	Anonychia
26137	ZBTB20	HP:0000431	Wide nasal bridge
26137	ZBTB20	HP:0001761	Pes cavus
26137	ZBTB20	HP:0000518	Cataract
26137	ZBTB20	HP:0001840	Metatarsus adductus
26137	ZBTB20	HP:0000508	Ptosis
26137	ZBTB20	HP:0011220	Prominent forehead
26146	TRAF3IP1	HP:0003774	Stage 5 chronic kidney disease
26146	TRAF3IP1	HP:0001251	Ataxia
26146	TRAF3IP1	HP:0001263	Global developmental delay
26146	TRAF3IP1	HP:0000090	Nephronophthisis
26146	TRAF3IP1	HP:0008802	Hypoplasia of the femoral head
26146	TRAF3IP1	HP:0001396	Cholestasis
26146	TRAF3IP1	HP:0001395	Hepatic fibrosis
26146	TRAF3IP1	HP:0000007	Autosomal recessive inheritance
26146	TRAF3IP1	HP:0002612	Congenital hepatic fibrosis
26146	TRAF3IP1	HP:0000135	Hypogonadism
26146	TRAF3IP1	HP:0010442	Polydactyly
26146	TRAF3IP1	HP:0008209	Premature ovarian insufficiency
26146	TRAF3IP1	HP:0010579	Cone-shaped epiphysis
26146	TRAF3IP1	HP:0001970	Tubulointerstitial nephritis
26146	TRAF3IP1	HP:0012622	Chronic kidney disease
26146	TRAF3IP1	HP:0000639	Nystagmus
26146	TRAF3IP1	HP:0000608	Macular degeneration
26146	TRAF3IP1	HP:0004322	Short stature
26146	TRAF3IP1	HP:0004348	Abnormality of bone mineral density
26146	TRAF3IP1	HP:0004469	Chronic bronchitis
26146	TRAF3IP1	HP:0000822	Hypertension
26146	TRAF3IP1	HP:0000938	Osteopenia
26146	TRAF3IP1	HP:0007703	Abnormality of retinal pigmentation
26146	TRAF3IP1	HP:0001513	Obesity
26146	TRAF3IP1	HP:0000486	Strabismus
26146	TRAF3IP1	HP:0000518	Cataract
26146	TRAF3IP1	HP:0000510	Rod-cone dystrophy
26146	TRAF3IP1	HP:0000529	Progressive visual loss
26146	TRAF3IP1	HP:0000505	Visual impairment
26146	TRAF3IP1	HP:0000556	Retinal dystrophy
26154	ABCA12	HP:0001161	Hand polydactyly
26154	ABCA12	HP:0100806	Sepsis
26154	ABCA12	HP:0001270	Motor delay
26154	ABCA12	HP:0001258	Spastic paraplegia
26154	ABCA12	HP:0007431	Congenital ichthyosiform erythroderma
26154	ABCA12	HP:0100840	Aplasia/Hypoplasia of the eyebrow
26154	ABCA12	HP:0001217	Clubbing
26154	ABCA12	HP:0003811	Neonatal death
26154	ABCA12	HP:0000083	Renal insufficiency
26154	ABCA12	HP:0001376	Limitation of joint mobility
26154	ABCA12	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
26154	ABCA12	HP:0000007	Autosomal recessive inheritance
26154	ABCA12	HP:0000164	Abnormality of the dentition
26154	ABCA12	HP:0001433	Hepatosplenomegaly
26154	ABCA12	HP:0100543	Cognitive impairment
26154	ABCA12	HP:0002093	Respiratory insufficiency
26154	ABCA12	HP:0002063	Rigidity
26154	ABCA12	HP:0002047	Malignant hyperthermia
26154	ABCA12	HP:0003577	Congenital onset
26154	ABCA12	HP:0100716	Self-injurious behavior
26154	ABCA12	HP:0002205	Recurrent respiratory infections
26154	ABCA12	HP:0100758	Gangrene
26154	ABCA12	HP:0001019	Erythroderma
26154	ABCA12	HP:0200020	Corneal erosion
26154	ABCA12	HP:0100679	Lack of skin elasticity
26154	ABCA12	HP:0001944	Dehydration
26154	ABCA12	HP:0000656	Ectropion
26154	ABCA12	HP:0004322	Short stature
26154	ABCA12	HP:0000989	Pruritus
26154	ABCA12	HP:0000982	Palmoplantar keratoderma
26154	ABCA12	HP:0000958	Dry skin
26154	ABCA12	HP:0000966	Hypohidrosis
26154	ABCA12	HP:0000962	Hyperkeratosis
26154	ABCA12	HP:0008070	Sparse hair
26154	ABCA12	HP:0008064	Ichthyosis
26154	ABCA12	HP:0009381	Short finger
26154	ABCA12	HP:0001597	Abnormality of the nail
26154	ABCA12	HP:0001596	Alopecia
26154	ABCA12	HP:0000232	Everted lower lip vermilion
26154	ABCA12	HP:0001522	Death in infancy
26154	ABCA12	HP:0001508	Failure to thrive
26154	ABCA12	HP:0011039	Abnormal helix morphology
26154	ABCA12	HP:0000389	Chronic otitis media
26154	ABCA12	HP:0000365	Hearing impairment
26154	ABCA12	HP:0000364	Hearing abnormality
26154	ABCA12	HP:0001645	Sudden cardiac death
26154	ABCA12	HP:0001622	Premature birth
26154	ABCA12	HP:0012472	Eclabion
26154	ABCA12	HP:0000491	Keratitis
26154	ABCA12	HP:0000457	Depressed nasal ridge
26154	ABCA12	HP:0000518	Cataract
26154	ABCA12	HP:0000520	Proptosis
26154	ABCA12	HP:0001829	Foot polydactyly
26154	ABCA12	HP:0001820	Leukonychia
26160	IFT172	HP:0001156	Brachydactyly
26160	IFT172	HP:0001162	Postaxial hand polydactyly
26160	IFT172	HP:0001133	Constriction of peripheral visual field
26160	IFT172	HP:0001249	Intellectual disability
26160	IFT172	HP:0001263	Global developmental delay
26160	IFT172	HP:0006101	Finger syndactyly
26160	IFT172	HP:0008736	Hypoplasia of penis
26160	IFT172	HP:0008724	Hypoplasia of the ovary
26160	IFT172	HP:0008689	Bilateral cryptorchidism
26160	IFT172	HP:0002516	Increased intracranial pressure
26160	IFT172	HP:0000083	Renal insufficiency
26160	IFT172	HP:0000090	Nephronophthisis
26160	IFT172	HP:0000093	Proteinuria
26160	IFT172	HP:0001396	Cholestasis
26160	IFT172	HP:0001399	Hepatic failure
26160	IFT172	HP:0001392	Abnormality of the liver
26160	IFT172	HP:0001395	Hepatic fibrosis
26160	IFT172	HP:0012047	Hemeralopia
26160	IFT172	HP:0000054	Micropenis
26160	IFT172	HP:0001347	Hyperreflexia
26160	IFT172	HP:0000035	Abnormal testis morphology
26160	IFT172	HP:0000026	Male hypogonadism
26160	IFT172	HP:0000028	Cryptorchidism
26160	IFT172	HP:0008872	Feeding difficulties in infancy
26160	IFT172	HP:0000007	Autosomal recessive inheritance
26160	IFT172	HP:0000003	Multicystic kidney dysplasia
26160	IFT172	HP:0002652	Skeletal dysplasia
26160	IFT172	HP:0001320	Cerebellar vermis hypoplasia
26160	IFT172	HP:0002650	Scoliosis
26160	IFT172	HP:0002644	Abnormal pelvic girdle bone morphology
26160	IFT172	HP:0000135	Hypogonadism
26160	IFT172	HP:0007675	Progressive night blindness
26160	IFT172	HP:0000100	Nephrotic syndrome
26160	IFT172	HP:0000112	Nephropathy
26160	IFT172	HP:0004691	2-3 toe syndactyly
26160	IFT172	HP:0005978	Type II diabetes mellitus
26160	IFT172	HP:0002099	Asthma
26160	IFT172	HP:0002093	Respiratory insufficiency
26160	IFT172	HP:0040270	Impaired glucose tolerance
26160	IFT172	HP:0002119	Ventriculomegaly
26160	IFT172	HP:0002167	Abnormality of speech or vocalization
26160	IFT172	HP:0010579	Cone-shaped epiphysis
26160	IFT172	HP:0003577	Congenital onset
26160	IFT172	HP:0002240	Hepatomegaly
26160	IFT172	HP:0002230	Generalized hirsutism
26160	IFT172	HP:0001085	Papilledema
26160	IFT172	HP:0010747	Medial flaring of the eyebrow
26160	IFT172	HP:0006889	Intellectual disability, borderline
26160	IFT172	HP:0012622	Chronic kidney disease
26160	IFT172	HP:0000639	Nystagmus
26160	IFT172	HP:0000648	Optic atrophy
26160	IFT172	HP:0000618	Blindness
26160	IFT172	HP:0000613	Photophobia
26160	IFT172	HP:0001952	Glucose intolerance
26160	IFT172	HP:0000602	Ophthalmoplegia
26160	IFT172	HP:0000662	Nyctalopia
26160	IFT172	HP:0000657	Oculomotor apraxia
26160	IFT172	HP:0004322	Short stature
26160	IFT172	HP:0030629	Perifoveal ring of hyperautofluorescence
26160	IFT172	HP:0003026	Short long bone
26160	IFT172	HP:0000772	Abnormal rib morphology
26160	IFT172	HP:0000766	Abnormal sternum morphology
26160	IFT172	HP:0000750	Delayed speech and language development
26160	IFT172	HP:0000774	Narrow chest
26160	IFT172	HP:0000773	Short ribs
26160	IFT172	HP:0003124	Hypercholesterolemia
26160	IFT172	HP:0000889	Abnormal clavicle morphology
26160	IFT172	HP:0012841	Retinal vascular tortuosity
26160	IFT172	HP:0000842	Hyperinsulinemia
26160	IFT172	HP:0000822	Hypertension
26160	IFT172	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
26160	IFT172	HP:0000895	Lateral clavicle hook
26160	IFT172	HP:0003202	Skeletal muscle atrophy
26160	IFT172	HP:0100259	Postaxial polydactyly
26160	IFT172	HP:0010306	Short thorax
26160	IFT172	HP:0000987	Atypical scarring of skin
26160	IFT172	HP:0000944	Abnormal metaphysis morphology
26160	IFT172	HP:0008046	Abnormal retinal vascular morphology
26160	IFT172	HP:0007703	Abnormality of retinal pigmentation
26160	IFT172	HP:0001591	Bell-shaped thorax
26160	IFT172	HP:0000238	Hydrocephalus
26160	IFT172	HP:0002857	Genu valgum
26160	IFT172	HP:0000202	Orofacial cleft
26160	IFT172	HP:0001513	Obesity
26160	IFT172	HP:0007843	Attenuation of retinal blood vessels
26160	IFT172	HP:0005257	Thoracic hypoplasia
26160	IFT172	HP:0002910	Elevated hepatic transaminase
26160	IFT172	HP:0000365	Hearing impairment
26160	IFT172	HP:0000368	Low-set, posteriorly rotated ears
26160	IFT172	HP:0002983	Micromelia
26160	IFT172	HP:0001629	Ventricular septal defect
26160	IFT172	HP:0001631	Atrial septal defect
26160	IFT172	HP:0006644	Thoracic dysplasia
26160	IFT172	HP:0000407	Sensorineural hearing impairment
26160	IFT172	HP:0000405	Conductive hearing impairment
26160	IFT172	HP:0001733	Pancreatitis
26160	IFT172	HP:0000483	Astigmatism
26160	IFT172	HP:0000494	Downslanted palpebral fissures
26160	IFT172	HP:0000463	Anteverted nares
26160	IFT172	HP:0000470	Short neck
26160	IFT172	HP:0001770	Toe syndactyly
26160	IFT172	HP:0001773	Short foot
26160	IFT172	HP:0012426	Optic disc drusen
26160	IFT172	HP:0001744	Splenomegaly
26160	IFT172	HP:0000431	Wide nasal bridge
26160	IFT172	HP:0000426	Prominent nasal bridge
26160	IFT172	HP:0006703	Aplasia/Hypoplasia of the lungs
26160	IFT172	HP:0000518	Cataract
26160	IFT172	HP:0001841	Preaxial foot polydactyly
26160	IFT172	HP:0000510	Rod-cone dystrophy
26160	IFT172	HP:0000512	Abnormal electroretinogram
26160	IFT172	HP:0000505	Visual impairment
26160	IFT172	HP:0001830	Postaxial foot polydactyly
26160	IFT172	HP:0000501	Glaucoma
26160	IFT172	HP:0000580	Pigmentary retinopathy
26160	IFT172	HP:0000563	Keratoconus
26160	IFT172	HP:0000540	Hypermetropia
26160	IFT172	HP:0000546	Retinal degeneration
26160	IFT172	HP:0000543	Optic disc pallor
26173	INTS1	HP:0001288	Gait disturbance
26173	INTS1	HP:0001250	Seizure
26173	INTS1	HP:0001252	Hypotonia
26173	INTS1	HP:0001263	Global developmental delay
26173	INTS1	HP:0002540	Inability to walk
26173	INTS1	HP:0001344	Absent speech
26173	INTS1	HP:0000007	Autosomal recessive inheritance
26173	INTS1	HP:0002650	Scoliosis
26173	INTS1	HP:0000175	Cleft palate
26173	INTS1	HP:0410030	Cleft lip
26173	INTS1	HP:0000110	Renal dysplasia
26173	INTS1	HP:0002714	Downturned corners of mouth
26173	INTS1	HP:0002002	Deep philtrum
26173	INTS1	HP:0002007	Frontal bossing
26173	INTS1	HP:0007068	Inferior cerebellar vermis hypoplasia
26173	INTS1	HP:0002355	Difficulty walking
26173	INTS1	HP:0011344	Severe global developmental delay
26173	INTS1	HP:0004322	Short stature
26173	INTS1	HP:0000767	Pectus excavatum
26173	INTS1	HP:0000729	Autistic behavior
26173	INTS1	HP:0003196	Short nose
26173	INTS1	HP:0045025	Narrow palpebral fissure
26173	INTS1	HP:0000286	Epicanthus
26173	INTS1	HP:0000293	Full cheeks
26173	INTS1	HP:0000268	Dolichocephaly
26173	INTS1	HP:0000369	Low-set ears
26173	INTS1	HP:0000343	Long philtrum
26173	INTS1	HP:0000316	Hypertelorism
26173	INTS1	HP:0001627	Abnormal heart morphology
26173	INTS1	HP:0000308	Microretrognathia
26173	INTS1	HP:0000483	Astigmatism
26173	INTS1	HP:0000486	Strabismus
26173	INTS1	HP:0000480	Retinal coloboma
26173	INTS1	HP:0000470	Short neck
26173	INTS1	HP:0000414	Bulbous nose
26173	INTS1	HP:0000411	Protruding ear
26173	INTS1	HP:0000431	Wide nasal bridge
26173	INTS1	HP:0000518	Cataract
26173	INTS1	HP:0001845	Overlapping toe
26173	INTS1	HP:0011228	Horizontal eyebrow
26173	INTS1	HP:0000568	Microphthalmia
26175	LYSET	HP:0003886	Wide humerus
26175	LYSET	HP:0033725	Thin corpus callosum
26175	LYSET	HP:0000007	Autosomal recessive inheritance
26175	LYSET	HP:0002650	Scoliosis
26175	LYSET	HP:0003593	Infantile onset
26175	LYSET	HP:0003510	Severe short stature
26175	LYSET	HP:0002355	Difficulty walking
26175	LYSET	HP:0003180	Flat acetabular roof
26175	LYSET	HP:0003270	Abdominal distention
26175	LYSET	HP:0000943	Dysostosis multiplex
26175	LYSET	HP:0000280	Coarse facial features
26175	LYSET	HP:0002827	Hip dislocation
26175	LYSET	HP:0033985	Elongated femoral neck
26175	LYSET	HP:0002866	Hypoplastic iliac wing
26175	LYSET	HP:0002937	Hemivertebrae
26175	LYSET	HP:0006633	Glenoid fossa hypoplasia
26191	PTPN22	HP:0001155	Abnormality of the hand
26191	PTPN22	HP:0001123	Visual field defect
26191	PTPN22	HP:0100820	Glomerulopathy
26191	PTPN22	HP:0001287	Meningitis
26191	PTPN22	HP:0001250	Seizure
26191	PTPN22	HP:0001251	Ataxia
26191	PTPN22	HP:0002591	Polyphagia
26191	PTPN22	HP:0000083	Renal insufficiency
26191	PTPN22	HP:0000093	Proteinuria
26191	PTPN22	HP:0001399	Hepatic failure
26191	PTPN22	HP:0000071	Ureteral stenosis
26191	PTPN22	HP:0001371	Flexion contracture
26191	PTPN22	HP:0001370	Rheumatoid arthritis
26191	PTPN22	HP:0001369	Arthritis
26191	PTPN22	HP:0001386	Joint swelling
26191	PTPN22	HP:0001387	Joint stiffness
26191	PTPN22	HP:0001382	Joint hypermobility
26191	PTPN22	HP:0001384	Abnormal hip joint morphology
26191	PTPN22	HP:0000024	Prostatitis
26191	PTPN22	HP:0008850	Severe postnatal growth retardation
26191	PTPN22	HP:0008843	Hip osteoarthritis
26191	PTPN22	HP:0006150	Swan neck-like deformities of the fingers
26191	PTPN22	HP:0033726	Lupus nephritis
26191	PTPN22	HP:0025300	Malar rash
26191	PTPN22	HP:0001324	Muscle weakness
26191	PTPN22	HP:0000006	Autosomal dominant inheritance
26191	PTPN22	HP:0002637	Cerebral ischemia
26191	PTPN22	HP:0002633	Vasculitis
26191	PTPN22	HP:0002647	Aortic dissection
26191	PTPN22	HP:0000163	Abnormal oral cavity morphology
26191	PTPN22	HP:0007663	Reduced visual acuity
26191	PTPN22	HP:0410050	Decreased level of 1,5 anhydroglucitol in serum
26191	PTPN22	HP:0006252	Interphalangeal joint erosions
26191	PTPN22	HP:0000123	Nephritis
26191	PTPN22	HP:0000126	Hydronephrosis
26191	PTPN22	HP:0000103	Polyuria
26191	PTPN22	HP:0001433	Hepatosplenomegaly
26191	PTPN22	HP:0002716	Lymphadenopathy
26191	PTPN22	HP:0002725	Systemic lupus erythematosus
26191	PTPN22	HP:0002017	Nausea and vomiting
26191	PTPN22	HP:0002027	Abdominal pain
26191	PTPN22	HP:0040313	Oligoarthritis
26191	PTPN22	HP:0003326	Myalgia
26191	PTPN22	HP:0003319	Abnormality of the cervical spine
26191	PTPN22	HP:0100533	Inflammatory abnormality of the eye
26191	PTPN22	HP:0100539	Periorbital edema
26191	PTPN22	HP:0100543	Cognitive impairment
26191	PTPN22	HP:0002093	Respiratory insufficiency
26191	PTPN22	HP:0002091	Restrictive ventilatory defect
26191	PTPN22	HP:0002039	Anorexia
26191	PTPN22	HP:0100576	Amaurosis fugax
26191	PTPN22	HP:0002102	Pleuritis
26191	PTPN22	HP:0002103	Abnormal pleura morphology
26191	PTPN22	HP:0002113	Pulmonary infiltrates
26191	PTPN22	HP:0002105	Hemoptysis
26191	PTPN22	HP:0011911	Abnormal metacarpophalangeal joint morphology
26191	PTPN22	HP:0003493	Antinuclear antibody positivity
26191	PTPN22	HP:0003401	Paresthesia
26191	PTPN22	HP:0002239	Gastrointestinal hemorrhage
26191	PTPN22	HP:0002216	Premature graying of hair
26191	PTPN22	HP:0003565	Elevated erythrocyte sedimentation rate
26191	PTPN22	HP:0002209	Sparse scalp hair
26191	PTPN22	HP:0002205	Recurrent respiratory infections
26191	PTPN22	HP:0002206	Pulmonary fibrosis
26191	PTPN22	HP:0100769	Synovitis
26191	PTPN22	HP:0100776	Recurrent pharyngitis
26191	PTPN22	HP:0100721	Mediastinal lymphadenopathy
26191	PTPN22	HP:0100749	Chest pain
26191	PTPN22	HP:0002290	Poliosis
26191	PTPN22	HP:0100758	Gangrene
26191	PTPN22	HP:0001053	Hypopigmented skin patches
26191	PTPN22	HP:0001045	Vitiligo
26191	PTPN22	HP:0002321	Vertigo
26191	PTPN22	HP:0002315	Headache
26191	PTPN22	HP:0200034	Papule
26191	PTPN22	HP:0009830	Peripheral neuropathy
26191	PTPN22	HP:0001094	Iridocyclitis
26191	PTPN22	HP:0200042	Skin ulcer
26191	PTPN22	HP:0100686	Enthesitis
26191	PTPN22	HP:0010754	Abnormality of the temporomandibular joint
26191	PTPN22	HP:0002301	Hemiplegia
26191	PTPN22	HP:0004936	Venous thrombosis
26191	PTPN22	HP:0003613	Antiphospholipid antibody positivity
26191	PTPN22	HP:0006824	Cranial nerve paralysis
26191	PTPN22	HP:0000639	Nystagmus
26191	PTPN22	HP:0000651	Diplopia
26191	PTPN22	HP:0000648	Optic atrophy
26191	PTPN22	HP:0001945	Fever
26191	PTPN22	HP:0001959	Polydipsia
26191	PTPN22	HP:0001903	Anemia
26191	PTPN22	HP:0001993	Ketoacidosis
26191	PTPN22	HP:0012649	Increased inflammatory response
26191	PTPN22	HP:0004322	Short stature
26191	PTPN22	HP:0003074	Hyperglycemia
26191	PTPN22	HP:0003028	Abnormality of the ankle
26191	PTPN22	HP:0003043	Abnormal shoulder morphology
26191	PTPN22	HP:0003019	Abnormality of the wrist
26191	PTPN22	HP:0012735	Cough
26191	PTPN22	HP:0000763	Sensory neuropathy
26191	PTPN22	HP:0000716	Depression
26191	PTPN22	HP:0000709	Psychosis
26191	PTPN22	HP:0000790	Hematuria
26191	PTPN22	HP:0004420	Arterial thrombosis
26191	PTPN22	HP:0005764	Polyarticular arthritis
26191	PTPN22	HP:0030782	Abnormal circulating interleukin concentration
26191	PTPN22	HP:0000873	Diabetes insipidus
26191	PTPN22	HP:0000864	Abnormality of the hypothalamus-pituitary axis
26191	PTPN22	HP:0000819	Diabetes mellitus
26191	PTPN22	HP:0000822	Hypertension
26191	PTPN22	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
26191	PTPN22	HP:0000979	Purpura
26191	PTPN22	HP:0000975	Hyperhidrosis
26191	PTPN22	HP:0000992	Cutaneous photosensitivity
26191	PTPN22	HP:0000988	Skin rash
26191	PTPN22	HP:0033034	Anti-citrullinated protein antibody positivity
26191	PTPN22	HP:0011675	Arrhythmia
26191	PTPN22	HP:0012276	Digital flexor tenosynovitis
26191	PTPN22	HP:0001596	Alopecia
26191	PTPN22	HP:0005112	Abdominal aortic aneurysm
26191	PTPN22	HP:0002829	Arthralgia
26191	PTPN22	HP:0005086	Knee osteoarthritis
26191	PTPN22	HP:0000246	Sinusitis
26191	PTPN22	HP:0001530	Mild postnatal growth retardation
26191	PTPN22	HP:0000206	Glossitis
26191	PTPN22	HP:0001508	Failure to thrive
26191	PTPN22	HP:0006510	Chronic pulmonary obstruction
26191	PTPN22	HP:0007833	Anterior chamber synechiae
26191	PTPN22	HP:0012378	Fatigue
26191	PTPN22	HP:0000389	Chronic otitis media
26191	PTPN22	HP:0000388	Otitis media
26191	PTPN22	HP:0005244	Gastrointestinal infarctions
26191	PTPN22	HP:0005216	Impaired mastication
26191	PTPN22	HP:0005214	Intestinal obstruction
26191	PTPN22	HP:0006535	Recurrent intrapulmonary hemorrhage
26191	PTPN22	HP:0002923	Rheumatoid factor positive
26191	PTPN22	HP:0005186	Synovial hypertrophy
26191	PTPN22	HP:0000365	Hearing impairment
26191	PTPN22	HP:0000366	Abnormality of the nose
26191	PTPN22	HP:0001681	Angina pectoris
26191	PTPN22	HP:0001645	Sudden cardiac death
26191	PTPN22	HP:0002960	Autoimmunity
26191	PTPN22	HP:0002955	Granulomatosis
26191	PTPN22	HP:0000499	Abnormal eyelash morphology
26191	PTPN22	HP:0000407	Sensorineural hearing impairment
26191	PTPN22	HP:0000405	Conductive hearing impairment
26191	PTPN22	HP:0001733	Pancreatitis
26191	PTPN22	HP:0001701	Pericarditis
26191	PTPN22	HP:0011134	Low-grade fever
26191	PTPN22	HP:0000488	Retinopathy
26191	PTPN22	HP:0001785	Ankle swelling
26191	PTPN22	HP:0000421	Epistaxis
26191	PTPN22	HP:0000518	Cataract
26191	PTPN22	HP:0000520	Proptosis
26191	PTPN22	HP:0001824	Weight loss
26191	PTPN22	HP:0000508	Ptosis
26191	PTPN22	HP:0000505	Visual impairment
26191	PTPN22	HP:0001832	Abnormal metatarsal morphology
26191	PTPN22	HP:0000501	Glaucoma
26191	PTPN22	HP:0000597	Ophthalmoparesis
26191	PTPN22	HP:0000585	Band keratopathy
26191	PTPN22	HP:0030356	Increased circulating interferon-gamma concentration
26191	PTPN22	HP:0011227	Elevated circulating C-reactive protein concentration
26191	PTPN22	HP:0000554	Uveitis
26191	PTPN22	HP:0000572	Visual loss
26191	PTPN22	HP:0001872	Abnormality of thrombocytes
26191	PTPN22	HP:0000541	Retinal detachment
26191	PTPN22	HP:0000534	Abnormal eyebrow morphology
26191	PTPN22	HP:0001882	Leukopenia
26191	PTPN22	HP:0001878	Hemolytic anemia
26191	PTPN22	HP:0001873	Thrombocytopenia
26224	FBXL3	HP:0002465	Poor speech
26224	FBXL3	HP:0001249	Intellectual disability
26224	FBXL3	HP:0001260	Dysarthria
26224	FBXL3	HP:0001263	Global developmental delay
26224	FBXL3	HP:0001373	Joint dislocation
26224	FBXL3	HP:0001388	Joint laxity
26224	FBXL3	HP:0000007	Autosomal recessive inheritance
26224	FBXL3	HP:0003593	Infantile onset
26224	FBXL3	HP:0010044	Short 4th metacarpal
26224	FBXL3	HP:0004322	Short stature
26224	FBXL3	HP:0006979	Sleep-wake cycle disturbance
26224	FBXL3	HP:0031936	Delayed ability to walk
26224	FBXL3	HP:0000750	Delayed speech and language development
26224	FBXL3	HP:0000718	Aggressive behavior
26224	FBXL3	HP:0000894	Short clavicles
26224	FBXL3	HP:0000252	Microcephaly
26224	FBXL3	HP:0000218	High palate
26224	FBXL3	HP:0000308	Microretrognathia
26224	FBXL3	HP:0000486	Strabismus
26224	FBXL3	HP:0000448	Prominent nose
26224	FBXL3	HP:0000414	Bulbous nose
26224	FBXL3	HP:0000431	Wide nasal bridge
26224	FBXL3	HP:0000508	Ptosis
26227	PHGDH	HP:0001181	Adducted thumb
26227	PHGDH	HP:0001196	Short umbilical cord
26227	PHGDH	HP:0007281	Developmental stagnation
26227	PHGDH	HP:0007266	Cerebral dysmyelination
26227	PHGDH	HP:0002414	Spina bifida
26227	PHGDH	HP:0100807	Long fingers
26227	PHGDH	HP:0001276	Hypertonia
26227	PHGDH	HP:0001274	Agenesis of corpus callosum
26227	PHGDH	HP:0001250	Seizure
26227	PHGDH	HP:0001249	Intellectual disability
26227	PHGDH	HP:0001257	Spasticity
26227	PHGDH	HP:0007430	Generalized edema
26227	PHGDH	HP:0006101	Finger syndactyly
26227	PHGDH	HP:0008734	Decreased testicular size
26227	PHGDH	HP:0002536	Abnormal cortical gyration
26227	PHGDH	HP:0002521	Hypsarrhythmia
26227	PHGDH	HP:0003826	Stillbirth
26227	PHGDH	HP:0002510	Spastic tetraplegia
26227	PHGDH	HP:0003811	Neonatal death
26227	PHGDH	HP:0000023	Inguinal hernia
26227	PHGDH	HP:0000028	Cryptorchidism
26227	PHGDH	HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin
26227	PHGDH	HP:0007503	Generalized ichthyosis
26227	PHGDH	HP:0001339	Lissencephaly
26227	PHGDH	HP:0000007	Autosomal recessive inheritance
26227	PHGDH	HP:0001305	Dandy-Walker malformation
26227	PHGDH	HP:0001321	Cerebellar hypoplasia
26227	PHGDH	HP:0000179	Thick lower lip vermilion
26227	PHGDH	HP:0000175	Cleft palate
26227	PHGDH	HP:0000136	Bifid uterus
26227	PHGDH	HP:0000135	Hypogonadism
26227	PHGDH	HP:0006266	Small placenta
26227	PHGDH	HP:0000104	Renal agenesis
26227	PHGDH	HP:0031244	Swollen lip
26227	PHGDH	HP:0002020	Gastroesophageal reflux
26227	PHGDH	HP:0002013	Vomiting
26227	PHGDH	HP:0002089	Pulmonary hypoplasia
26227	PHGDH	HP:0002069	Bilateral tonic-clonic seizure
26227	PHGDH	HP:0002079	Hypoplasia of the corpus callosum
26227	PHGDH	HP:0009466	Radial deviation of finger
26227	PHGDH	HP:0009473	Joint contracture of the hand
26227	PHGDH	HP:0002123	Generalized myoclonic seizure
26227	PHGDH	HP:0002121	Generalized non-motor (absence) seizure
26227	PHGDH	HP:0002119	Ventriculomegaly
26227	PHGDH	HP:0002190	Choroid plexus cyst
26227	PHGDH	HP:0003577	Congenital onset
26227	PHGDH	HP:0100704	Cerebral visual impairment
26227	PHGDH	HP:0010719	Abnormality of hair texture
26227	PHGDH	HP:0034691	Reduced 3-phosphoglycerate dehydrogenase activity
26227	PHGDH	HP:0011968	Feeding difficulties
26227	PHGDH	HP:0001059	Pterygium
26227	PHGDH	HP:0002324	Hydranencephaly
26227	PHGDH	HP:0010821	Focal emotional seizure with laughing
26227	PHGDH	HP:0009826	Limb undergrowth
26227	PHGDH	HP:0010819	Atonic seizure
26227	PHGDH	HP:0100633	Esophagitis
26227	PHGDH	HP:0002305	Athetosis
26227	PHGDH	HP:0006872	Cerebral hypoplasia
26227	PHGDH	HP:0006808	Cerebral hypomyelination
26227	PHGDH	HP:0000639	Nystagmus
26227	PHGDH	HP:0011344	Severe global developmental delay
26227	PHGDH	HP:0011343	Moderate global developmental delay
26227	PHGDH	HP:0001989	Fetal akinesia sequence
26227	PHGDH	HP:0001999	Abnormal facial shape
26227	PHGDH	HP:0004322	Short stature
26227	PHGDH	HP:0000737	Irritability
26227	PHGDH	HP:0000708	Atypical behavior
26227	PHGDH	HP:0011451	Primary microcephaly
26227	PHGDH	HP:0012762	Cerebral white matter atrophy
26227	PHGDH	HP:0008064	Ichthyosis
26227	PHGDH	HP:0012279	Hyposerinemia
26227	PHGDH	HP:0012277	Hypoglycinemia
26227	PHGDH	HP:0030084	Clinodactyly
26227	PHGDH	HP:0000252	Microcephaly
26227	PHGDH	HP:0001561	Polyhydramnios
26227	PHGDH	HP:0001558	Decreased fetal movement
26227	PHGDH	HP:0001537	Umbilical hernia
26227	PHGDH	HP:0000204	Cleft upper lip
26227	PHGDH	HP:0001508	Failure to thrive
26227	PHGDH	HP:0001511	Intrauterine growth retardation
26227	PHGDH	HP:0001510	Growth delay
26227	PHGDH	HP:0011097	Epileptic spasm
26227	PHGDH	HP:0012385	Camptodactyly
26227	PHGDH	HP:0000369	Low-set ears
26227	PHGDH	HP:0000340	Sloping forehead
26227	PHGDH	HP:0001669	Transposition of the great arteries
26227	PHGDH	HP:0000347	Micrognathia
26227	PHGDH	HP:0002983	Micromelia
26227	PHGDH	HP:0000316	Hypertelorism
26227	PHGDH	HP:0001643	Patent ductus arteriosus
26227	PHGDH	HP:0001655	Patent foramen ovale
26227	PHGDH	HP:0001629	Ventricular septal defect
26227	PHGDH	HP:0000400	Macrotia
26227	PHGDH	HP:0030215	Inappropriate crying
26227	PHGDH	HP:0012448	Delayed myelination
26227	PHGDH	HP:0012444	Brain atrophy
26227	PHGDH	HP:0000457	Depressed nasal ridge
26227	PHGDH	HP:0000475	Broad neck
26227	PHGDH	HP:0000470	Short neck
26227	PHGDH	HP:0001770	Toe syndactyly
26227	PHGDH	HP:0000445	Wide nose
26227	PHGDH	HP:0000518	Cataract
26227	PHGDH	HP:0001848	Calcaneovalgus deformity
26227	PHGDH	HP:0000519	Developmental cataract
26227	PHGDH	HP:0000520	Proptosis
26227	PHGDH	HP:0001838	Rocker bottom foot
26227	PHGDH	HP:0011224	Ablepharon
26227	PHGDH	HP:0000561	Absent eyelashes
26227	PHGDH	HP:0001889	Megaloblastic anemia
26227	PHGDH	HP:0000568	Microphthalmia
26227	PHGDH	HP:0000565	Esotropia
26227	PHGDH	HP:0001873	Thrombocytopenia
26229	B3GAT3	HP:0008593	Prominent antitragus
26229	B3GAT3	HP:0009880	Broad distal phalanges of all fingers
26229	B3GAT3	HP:0008551	Microtia
26229	B3GAT3	HP:0001290	Generalized hypotonia
26229	B3GAT3	HP:0001270	Motor delay
26229	B3GAT3	HP:0001252	Hypotonia
26229	B3GAT3	HP:0001222	Spatulate thumbs
26229	B3GAT3	HP:0003834	Shoulder dislocation
26229	B3GAT3	HP:0006099	Metacarpophalangeal joint hyperextensibility
26229	B3GAT3	HP:0001382	Joint hypermobility
26229	B3GAT3	HP:0000023	Inguinal hernia
26229	B3GAT3	HP:0001363	Craniosynostosis
26229	B3GAT3	HP:0012095	Multiple joint dislocation
26229	B3GAT3	HP:0000007	Autosomal recessive inheritance
26229	B3GAT3	HP:0002650	Scoliosis
26229	B3GAT3	HP:0002616	Aortic root aneurysm
26229	B3GAT3	HP:0008905	Rhizomelia
26229	B3GAT3	HP:0000160	Narrow mouth
26229	B3GAT3	HP:0000175	Cleft palate
26229	B3GAT3	HP:0005021	Bilateral elbow dislocations
26229	B3GAT3	HP:0002757	Recurrent fractures
26229	B3GAT3	HP:0002750	Delayed skeletal maturation
26229	B3GAT3	HP:0002007	Frontal bossing
26229	B3GAT3	HP:0011800	Midface retrusion
26229	B3GAT3	HP:0002162	Low posterior hairline
26229	B3GAT3	HP:0004976	Knee dislocation
26229	B3GAT3	HP:0001090	Abnormally large globe
26229	B3GAT3	HP:0001087	Developmental glaucoma
26229	B3GAT3	HP:0004298	Abnormality of the abdominal wall
26229	B3GAT3	HP:0000646	Amblyopia
26229	B3GAT3	HP:0000691	Microdontia
26229	B3GAT3	HP:0004322	Short stature
26229	B3GAT3	HP:0005616	Accelerated skeletal maturation
26229	B3GAT3	HP:0003083	Dislocated radial head
26229	B3GAT3	HP:0003051	Enlarged metaphyses
26229	B3GAT3	HP:0003015	Flared metaphysis
26229	B3GAT3	HP:0000768	Pectus carinatum
26229	B3GAT3	HP:0000774	Narrow chest
26229	B3GAT3	HP:0000776	Congenital diaphragmatic hernia
26229	B3GAT3	HP:0000926	Platyspondyly
26229	B3GAT3	HP:0000878	11 pairs of ribs
26229	B3GAT3	HP:0000974	Hyperextensible skin
26229	B3GAT3	HP:0000973	Cutis laxa
26229	B3GAT3	HP:0000939	Osteoporosis
26229	B3GAT3	HP:0000938	Osteopenia
26229	B3GAT3	HP:0040160	Generalized osteoporosis
26229	B3GAT3	HP:0000274	Small face
26229	B3GAT3	HP:0002827	Hip dislocation
26229	B3GAT3	HP:0000238	Hydrocephalus
26229	B3GAT3	HP:0000248	Brachycephaly
26229	B3GAT3	HP:0002857	Genu valgum
26229	B3GAT3	HP:0012368	Flat face
26229	B3GAT3	HP:0000369	Low-set ears
26229	B3GAT3	HP:0000343	Long philtrum
26229	B3GAT3	HP:0000337	Broad forehead
26229	B3GAT3	HP:0000347	Micrognathia
26229	B3GAT3	HP:0001647	Bicuspid aortic valve
26229	B3GAT3	HP:0000316	Hypertelorism
26229	B3GAT3	HP:0002974	Radioulnar synostosis
26229	B3GAT3	HP:0002987	Elbow flexion contracture
26229	B3GAT3	HP:0001655	Patent foramen ovale
26229	B3GAT3	HP:0001640	Cardiomegaly
26229	B3GAT3	HP:0000308	Microretrognathia
26229	B3GAT3	HP:0001631	Atrial septal defect
26229	B3GAT3	HP:0001634	Mitral valve prolapse
26229	B3GAT3	HP:0001712	Left ventricular hypertrophy
26229	B3GAT3	HP:0005280	Depressed nasal bridge
26229	B3GAT3	HP:0000494	Downslanted palpebral fissures
26229	B3GAT3	HP:0000470	Short neck
26229	B3GAT3	HP:0000465	Webbed neck
26229	B3GAT3	HP:0001772	Talipes equinovalgus
26229	B3GAT3	HP:0001763	Pes planus
26229	B3GAT3	HP:0001762	Talipes equinovarus
26229	B3GAT3	HP:0001840	Metatarsus adductus
26229	B3GAT3	HP:0001852	Sandal gap
26229	B3GAT3	HP:0000520	Proptosis
26229	B3GAT3	HP:0001822	Hallux valgus
26229	B3GAT3	HP:0000592	Blue sclerae
26229	B3GAT3	HP:0011220	Prominent forehead
26229	B3GAT3	HP:0000574	Thick eyebrow
26229	B3GAT3	HP:0000565	Esotropia
26229	B3GAT3	HP:0000540	Hypermetropia
26235	FBXL4	HP:0002415	Leukodystrophy
26235	FBXL4	HP:0001298	Encephalopathy
26235	FBXL4	HP:0001272	Cerebellar atrophy
26235	FBXL4	HP:0001250	Seizure
26235	FBXL4	HP:0001252	Hypotonia
26235	FBXL4	HP:0001251	Ataxia
26235	FBXL4	HP:0001266	Choreoathetosis
26235	FBXL4	HP:0001263	Global developmental delay
26235	FBXL4	HP:0002500	Abnormal cerebral white matter morphology
26235	FBXL4	HP:0000047	Hypospadias
26235	FBXL4	HP:0001357	Plagiocephaly
26235	FBXL4	HP:0001332	Dystonia
26235	FBXL4	HP:0000007	Autosomal recessive inheritance
26235	FBXL4	HP:0002650	Scoliosis
26235	FBXL4	HP:0002719	Recurrent infections
26235	FBXL4	HP:0002020	Gastroesophageal reflux
26235	FBXL4	HP:0003348	Hyperalaninemia
26235	FBXL4	HP:0002015	Dysphagia
26235	FBXL4	HP:0002079	Hypoplasia of the corpus callosum
26235	FBXL4	HP:0002059	Cerebral atrophy
26235	FBXL4	HP:0002151	Increased serum lactate
26235	FBXL4	HP:0002119	Ventriculomegaly
26235	FBXL4	HP:0010602	Type 2 muscle fiber predominance
26235	FBXL4	HP:0011924	Decreased activity of mitochondrial complex III
26235	FBXL4	HP:0011923	Decreased activity of mitochondrial complex I
26235	FBXL4	HP:0002188	Delayed CNS myelination
26235	FBXL4	HP:0200125	Mitochondrial respiratory chain defects
26235	FBXL4	HP:0008347	Decreased activity of mitochondrial complex IV
26235	FBXL4	HP:0000639	Nystagmus
26235	FBXL4	HP:0001947	Renal tubular acidosis
26235	FBXL4	HP:0011344	Severe global developmental delay
26235	FBXL4	HP:0001987	Hyperammonemia
26235	FBXL4	HP:0003128	Lactic acidosis
26235	FBXL4	HP:0003202	Skeletal muscle atrophy
26235	FBXL4	HP:0011675	Arrhythmia
26235	FBXL4	HP:0000286	Epicanthus
26235	FBXL4	HP:0000275	Narrow face
26235	FBXL4	HP:0000252	Microcephaly
26235	FBXL4	HP:0000232	Everted lower lip vermilion
26235	FBXL4	HP:0001508	Failure to thrive
26235	FBXL4	HP:0001518	Small for gestational age
26235	FBXL4	HP:0001510	Growth delay
26235	FBXL4	HP:0000377	Abnormal pinna morphology
26235	FBXL4	HP:0002910	Elevated hepatic transaminase
26235	FBXL4	HP:0001639	Hypertrophic cardiomyopathy
26235	FBXL4	HP:0000494	Downslanted palpebral fissures
26235	FBXL4	HP:0011120	Concave nasal ridge
26235	FBXL4	HP:0001773	Short foot
26235	FBXL4	HP:0000411	Protruding ear
26235	FBXL4	HP:0000518	Cataract
26235	FBXL4	HP:0000574	Thick eyebrow
26235	FBXL4	HP:0001875	Neutropenia
26249	KLHL3	HP:0000007	Autosomal recessive inheritance
26249	KLHL3	HP:0000006	Autosomal dominant inheritance
26249	KLHL3	HP:0002153	Hyperkalemia
26249	KLHL3	HP:0008242	Pseudohypoaldosteronism
26249	KLHL3	HP:0004918	Hyperchloremic metabolic acidosis
26249	KLHL3	HP:0011462	Young adult onset
26249	KLHL3	HP:0011423	Hyperchloremia
26249	KLHL3	HP:0000822	Hypertension
26258	BLOC1S6	HP:0001107	Ocular albinism
26258	BLOC1S6	HP:0001263	Global developmental delay
26258	BLOC1S6	HP:0000007	Autosomal recessive inheritance
26258	BLOC1S6	HP:0001010	Hypopigmentation of the skin
26258	BLOC1S6	HP:0000639	Nystagmus
26258	BLOC1S6	HP:0001581	Recurrent skin infections
26258	BLOC1S6	HP:0007894	Hypopigmentation of the fundus
26258	BLOC1S6	HP:0030402	Abnormal platelet aggregation
26258	BLOC1S6	HP:0001882	Leukopenia
26258	BLOC1S6	HP:0001873	Thrombocytopenia
26275	HIBCH	HP:0001298	Encephalopathy
26275	HIBCH	HP:0001274	Agenesis of corpus callosum
26275	HIBCH	HP:0001270	Motor delay
26275	HIBCH	HP:0002599	Head titubation
26275	HIBCH	HP:0001254	Lethargy
26275	HIBCH	HP:0001250	Seizure
26275	HIBCH	HP:0001252	Hypotonia
26275	HIBCH	HP:0001251	Ataxia
26275	HIBCH	HP:0001263	Global developmental delay
26275	HIBCH	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
26275	HIBCH	HP:0002521	Hypsarrhythmia
26275	HIBCH	HP:0001347	Hyperreflexia
26275	HIBCH	HP:0000028	Cryptorchidism
26275	HIBCH	HP:0001332	Dystonia
26275	HIBCH	HP:0000007	Autosomal recessive inheritance
26275	HIBCH	HP:0001336	Myoclonus
26275	HIBCH	HP:0001310	Dysmetria
26275	HIBCH	HP:0003355	Aminoaciduria
26275	HIBCH	HP:0002013	Vomiting
26275	HIBCH	HP:0002093	Respiratory insufficiency
26275	HIBCH	HP:0002078	Truncal ataxia
26275	HIBCH	HP:0003468	Abnormal vertebral morphology
26275	HIBCH	HP:0002151	Increased serum lactate
26275	HIBCH	HP:0002119	Ventriculomegaly
26275	HIBCH	HP:0003593	Infantile onset
26275	HIBCH	HP:0011968	Feeding difficulties
26275	HIBCH	HP:0002360	Sleep disturbance
26275	HIBCH	HP:0002376	Developmental regression
26275	HIBCH	HP:0002344	Progressive neurologic deterioration
26275	HIBCH	HP:0002352	Leukoencephalopathy
26275	HIBCH	HP:0000639	Nystagmus
26275	HIBCH	HP:0001942	Metabolic acidosis
26275	HIBCH	HP:0012697	Small basal ganglia
26275	HIBCH	HP:0011334	Facial shape deformation
26275	HIBCH	HP:0000737	Irritability
26275	HIBCH	HP:0000925	Abnormality of the vertebral column
26275	HIBCH	HP:0003287	Abnormality of mitochondrial metabolism
26275	HIBCH	HP:0000286	Epicanthus
26275	HIBCH	HP:0001508	Failure to thrive
26275	HIBCH	HP:0001636	Tetralogy of Fallot
26275	HIBCH	HP:0000486	Strabismus
26275	HIBCH	HP:0012469	Infantile spasms
26276	VPS33B	HP:0001290	Generalized hypotonia
26276	VPS33B	HP:0001252	Hypotonia
26276	VPS33B	HP:0001263	Global developmental delay
26276	VPS33B	HP:0000093	Proteinuria
26276	VPS33B	HP:0000092	Renal tubular atrophy
26276	VPS33B	HP:0001396	Cholestasis
26276	VPS33B	HP:0001385	Hip dysplasia
26276	VPS33B	HP:0007545	Congenital palmoplantar hyperkeratosis
26276	VPS33B	HP:0007460	Autoamputation of digits
26276	VPS33B	HP:0001339	Lissencephaly
26276	VPS33B	HP:0000007	Autosomal recessive inheritance
26276	VPS33B	HP:0002611	Cholestatic liver disease
26276	VPS33B	HP:0000121	Nephrocalcinosis
26276	VPS33B	HP:0000112	Nephropathy
26276	VPS33B	HP:0003355	Aminoaciduria
26276	VPS33B	HP:0030948	Elevated gamma-glutamyltransferase level
26276	VPS33B	HP:0003593	Infantile onset
26276	VPS33B	HP:0003577	Congenital onset
26276	VPS33B	HP:0002240	Hepatomegaly
26276	VPS33B	HP:0200084	Giant cell hepatitis
26276	VPS33B	HP:0003645	Prolonged partial thromboplastin time
26276	VPS33B	HP:0009806	Nephrogenic diabetes insipidus
26276	VPS33B	HP:0005565	Reduced renal corticomedullary differentiation
26276	VPS33B	HP:0001947	Renal tubular acidosis
26276	VPS33B	HP:0001944	Dehydration
26276	VPS33B	HP:0001942	Metabolic acidosis
26276	VPS33B	HP:0004322	Short stature
26276	VPS33B	HP:0031956	Elevated circulating aspartate aminotransferase concentration
26276	VPS33B	HP:0031964	Elevated circulating alanine aminotransferase concentration
26276	VPS33B	HP:0000989	Pruritus
26276	VPS33B	HP:0000952	Jaundice
26276	VPS33B	HP:0008064	Ichthyosis
26276	VPS33B	HP:0002804	Arthrogryposis multiplex congenita
26276	VPS33B	HP:0000252	Microcephaly
26276	VPS33B	HP:0012202	Increased serum bile acid concentration
26276	VPS33B	HP:0001562	Oligohydramnios
26276	VPS33B	HP:0001522	Death in infancy
26276	VPS33B	HP:0001508	Failure to thrive
26276	VPS33B	HP:0001518	Small for gestational age
26276	VPS33B	HP:0005248	Intrahepatic biliary atresia
26276	VPS33B	HP:0002910	Elevated hepatic transaminase
26276	VPS33B	HP:0002908	Conjugated hyperbilirubinemia
26276	VPS33B	HP:0002904	Hyperbilirubinemia
26276	VPS33B	HP:0000365	Hearing impairment
26276	VPS33B	HP:0000369	Low-set ears
26276	VPS33B	HP:0000340	Sloping forehead
26276	VPS33B	HP:0001667	Right ventricular hypertrophy
26276	VPS33B	HP:0000347	Micrognathia
26276	VPS33B	HP:0001655	Patent foramen ovale
26276	VPS33B	HP:0001629	Ventricular septal defect
26276	VPS33B	HP:0001631	Atrial septal defect
26276	VPS33B	HP:0000407	Sensorineural hearing impairment
26276	VPS33B	HP:0001744	Splenomegaly
26276	VPS33B	HP:0001762	Talipes equinovarus
26276	VPS33B	HP:0001892	Abnormal bleeding
26276	VPS33B	HP:0001884	Talipes calcaneovalgus
26276	VPS33B	HP:0001873	Thrombocytopenia
26277	TINF2	HP:0009926	Epiphora
26277	TINF2	HP:0010885	Avascular necrosis
26277	TINF2	HP:0003745	Sporadic
26277	TINF2	HP:0001276	Hypertonia
26277	TINF2	HP:0001251	Ataxia
26277	TINF2	HP:0001249	Intellectual disability
26277	TINF2	HP:0001265	Hyporeflexia
26277	TINF2	HP:0001263	Global developmental delay
26277	TINF2	HP:0001231	Abnormal fingernail morphology
26277	TINF2	HP:0002575	Tracheoesophageal fistula
26277	TINF2	HP:0007440	Generalized hyperpigmentation
26277	TINF2	HP:0007427	Reticulated skin pigmentation
26277	TINF2	HP:0007392	Excessive wrinkled skin
26277	TINF2	HP:0008661	Urethral stenosis
26277	TINF2	HP:0002514	Cerebral calcification
26277	TINF2	HP:0001399	Hepatic failure
26277	TINF2	HP:0001394	Cirrhosis
26277	TINF2	HP:0000035	Abnormal testis morphology
26277	TINF2	HP:0000028	Cryptorchidism
26277	TINF2	HP:0002664	Neoplasm
26277	TINF2	HP:0001328	Specific learning disability
26277	TINF2	HP:0000008	Abnormal morphology of female internal genitalia
26277	TINF2	HP:0002665	Lymphoma
26277	TINF2	HP:0000006	Autosomal dominant inheritance
26277	TINF2	HP:0002639	Budd-Chiari syndrome
26277	TINF2	HP:0002650	Scoliosis
26277	TINF2	HP:0001321	Cerebellar hypoplasia
26277	TINF2	HP:0002605	Hepatic necrosis
26277	TINF2	HP:0000164	Abnormality of the dentition
26277	TINF2	HP:0007617	Fine, reticulate skin pigmentation
26277	TINF2	HP:0007588	Reticular hyperpigmentation
26277	TINF2	HP:0002757	Recurrent fractures
26277	TINF2	HP:0002745	Oral leukoplakia
26277	TINF2	HP:0002721	Immunodeficiency
26277	TINF2	HP:0002024	Malabsorption
26277	TINF2	HP:0002094	Dyspnea
26277	TINF2	HP:0010450	Esophageal stenosis
26277	TINF2	HP:0100585	Telangiectasia of the skin
26277	TINF2	HP:0002120	Cerebral cortical atrophy
26277	TINF2	HP:0002119	Ventriculomegaly
26277	TINF2	HP:0002164	Nail dysplasia
26277	TINF2	HP:0002240	Hepatomegaly
26277	TINF2	HP:0002216	Premature graying of hair
26277	TINF2	HP:0002213	Fine hair
26277	TINF2	HP:0002209	Sparse scalp hair
26277	TINF2	HP:0002205	Recurrent respiratory infections
26277	TINF2	HP:0002206	Pulmonary fibrosis
26277	TINF2	HP:0008402	Ridged fingernail
26277	TINF2	HP:0008404	Nail dystrophy
26277	TINF2	HP:0010624	Aplastic/hypoplastic toenail
26277	TINF2	HP:0001053	Hypopigmented skin patches
26277	TINF2	HP:0001034	Hypermelanotic macule
26277	TINF2	HP:0002344	Progressive neurologic deterioration
26277	TINF2	HP:0200037	Skin vesicle
26277	TINF2	HP:0100670	Coarse metaphyseal trabecularization
26277	TINF2	HP:0100627	Displacement of the urethral meatus
26277	TINF2	HP:0200042	Skin ulcer
26277	TINF2	HP:0003621	Juvenile onset
26277	TINF2	HP:0005528	Bone marrow hypocellularity
26277	TINF2	HP:0005518	Increased mean corpuscular volume
26277	TINF2	HP:0000639	Nystagmus
26277	TINF2	HP:0001928	Abnormality of coagulation
26277	TINF2	HP:0000600	Abnormality of the pharynx
26277	TINF2	HP:0001903	Anemia
26277	TINF2	HP:0001915	Aplastic anemia
26277	TINF2	HP:0011358	Generalized hypopigmentation of hair
26277	TINF2	HP:0011364	White hair
26277	TINF2	HP:0000679	Taurodontia
26277	TINF2	HP:0000670	Carious teeth
26277	TINF2	HP:0000668	Hypodontia
26277	TINF2	HP:0004322	Short stature
26277	TINF2	HP:0004334	Dermal atrophy
26277	TINF2	HP:0012732	Anorectal anomaly
26277	TINF2	HP:0012733	Macule
26277	TINF2	HP:0000750	Delayed speech and language development
26277	TINF2	HP:0000704	Periodontitis
26277	TINF2	HP:0011463	Childhood onset
26277	TINF2	HP:0011462	Young adult onset
26277	TINF2	HP:0005743	Avascular necrosis of the capital femoral epiphysis
26277	TINF2	HP:0000819	Diabetes mellitus
26277	TINF2	HP:0003220	Abnormality of chromosome stability
26277	TINF2	HP:0045051	Decreased DLCO
26277	TINF2	HP:0000975	Hyperhidrosis
26277	TINF2	HP:0000982	Palmoplantar keratoderma
26277	TINF2	HP:0000958	Dry skin
26277	TINF2	HP:0000939	Osteoporosis
26277	TINF2	HP:0008070	Sparse hair
26277	TINF2	HP:0008065	Aplasia/Hypoplasia of the skin
26277	TINF2	HP:0008066	Abnormal blistering of the skin
26277	TINF2	HP:0001596	Alopecia
26277	TINF2	HP:0031413	Short telomere length
26277	TINF2	HP:0012227	Urethral stricture
26277	TINF2	HP:0000252	Microcephaly
26277	TINF2	HP:0002894	Neoplasm of the pancreas
26277	TINF2	HP:0002863	Myelodysplasia
26277	TINF2	HP:0001508	Failure to thrive
26277	TINF2	HP:0001511	Intrauterine growth retardation
26277	TINF2	HP:0001510	Growth delay
26277	TINF2	HP:0007898	Exudative retinopathy
26277	TINF2	HP:0006515	Interstitial pneumonitis
26277	TINF2	HP:0006480	Premature loss of teeth
26277	TINF2	HP:0000365	Hearing impairment
26277	TINF2	HP:0000327	Hypoplasia of the maxilla
26277	TINF2	HP:0000499	Abnormal eyelash morphology
26277	TINF2	HP:0000498	Blepharitis
26277	TINF2	HP:0005374	Cellular immunodeficiency
26277	TINF2	HP:0000485	Megalocornea
26277	TINF2	HP:0001744	Splenomegaly
26277	TINF2	HP:0006739	Squamous cell carcinoma of the skin
26277	TINF2	HP:0000518	Cataract
26277	TINF2	HP:0001807	Ridged nail
26277	TINF2	HP:0001803	Nail pits
26277	TINF2	HP:0001888	Lymphopenia
26277	TINF2	HP:0000555	Leukocoria
26277	TINF2	HP:0000534	Abnormal eyebrow morphology
26277	TINF2	HP:0001881	Abnormal leukocyte morphology
26277	TINF2	HP:0001882	Leukopenia
26277	TINF2	HP:0001874	Abnormality of neutrophils
26277	TINF2	HP:0001873	Thrombocytopenia
26277	TINF2	HP:0001876	Pancytopenia
26278	SACS	HP:0002497	Spastic ataxia
26278	SACS	HP:0002495	Impaired vibratory sensation
26278	SACS	HP:0002493	Upper motor neuron dysfunction
26278	SACS	HP:0002460	Distal muscle weakness
26278	SACS	HP:0007256	Abnormal pyramidal sign
26278	SACS	HP:0007240	Progressive gait ataxia
26278	SACS	HP:0007221	Progressive truncal ataxia
26278	SACS	HP:0001272	Cerebellar atrophy
26278	SACS	HP:0001251	Ataxia
26278	SACS	HP:0001249	Intellectual disability
26278	SACS	HP:0001260	Dysarthria
26278	SACS	HP:0001257	Spasticity
26278	SACS	HP:0007361	Abnormal pons morphology
26278	SACS	HP:0002527	Falls
26278	SACS	HP:0000020	Urinary incontinence
26278	SACS	HP:0001347	Hyperreflexia
26278	SACS	HP:0006150	Swan neck-like deformities of the fingers
26278	SACS	HP:0001324	Muscle weakness
26278	SACS	HP:0000012	Urinary urgency
26278	SACS	HP:0000007	Autosomal recessive inheritance
26278	SACS	HP:0001310	Dysmetria
26278	SACS	HP:0001320	Cerebellar vermis hypoplasia
26278	SACS	HP:0002650	Scoliosis
26278	SACS	HP:0001317	Abnormal cerebellum morphology
26278	SACS	HP:0012104	Parietal cortical atrophy
26278	SACS	HP:0002015	Dysphagia
26278	SACS	HP:0002080	Intention tremor
26278	SACS	HP:0002066	Gait ataxia
26278	SACS	HP:0002064	Spastic gait
26278	SACS	HP:0002061	Lower limb spasticity
26278	SACS	HP:0002079	Hypoplasia of the corpus callosum
26278	SACS	HP:0002073	Progressive cerebellar ataxia
26278	SACS	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
26278	SACS	HP:0003383	Onion bulb formation
26278	SACS	HP:0003487	Babinski sign
26278	SACS	HP:0003448	Decreased sensory nerve conduction velocity
26278	SACS	HP:0003431	Decreased motor nerve conduction velocity
26278	SACS	HP:0003438	Absent Achilles reflex
26278	SACS	HP:0011931	Abnormal cerebellar peduncle morphology
26278	SACS	HP:0002168	Scanning speech
26278	SACS	HP:0002166	Impaired vibration sensation in the lower limbs
26278	SACS	HP:0003593	Infantile onset
26278	SACS	HP:0100702	Arachnoid cyst
26278	SACS	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
26278	SACS	HP:0007083	Hyperactive patellar reflex
26278	SACS	HP:0003693	Distal amyotrophy
26278	SACS	HP:0002355	Difficulty walking
26278	SACS	HP:0002317	Unsteady gait
26278	SACS	HP:0010830	Impaired tactile sensation
26278	SACS	HP:0009830	Peripheral neuropathy
26278	SACS	HP:0007141	Sensorimotor neuropathy
26278	SACS	HP:0007108	Demyelinating peripheral neuropathy
26278	SACS	HP:0006855	Cerebellar vermis atrophy
26278	SACS	HP:0000639	Nystagmus
26278	SACS	HP:0009049	Peroneal muscle atrophy
26278	SACS	HP:0009027	Foot dorsiflexor weakness
26278	SACS	HP:0000802	Impotence
26278	SACS	HP:0000708	Atypical behavior
26278	SACS	HP:0012896	Abnormal motor evoked potentials
26278	SACS	HP:4000169	Pontine T2 hypointensity
26278	SACS	HP:0007772	Impaired smooth pursuit
26278	SACS	HP:0002936	Distal sensory impairment
26278	SACS	HP:0001634	Mitral valve prolapse
26278	SACS	HP:0007922	Hypermyelinated retinal nerve fibers
26278	SACS	HP:0007979	Gaze-evoked horizontal nystagmus
26278	SACS	HP:0001765	Hammertoe
26278	SACS	HP:0001760	Abnormal foot morphology
26278	SACS	HP:0001761	Pes cavus
26281	FGF20	HP:0010958	Bilateral renal agenesis
26281	FGF20	HP:0002575	Tracheoesophageal fistula
26281	FGF20	HP:0000008	Abnormal morphology of female internal genitalia
26281	FGF20	HP:0000007	Autosomal recessive inheritance
26281	FGF20	HP:0000175	Cleft palate
26281	FGF20	HP:0000104	Renal agenesis
26281	FGF20	HP:0002009	Potter facies
26281	FGF20	HP:0002089	Pulmonary hypoplasia
26281	FGF20	HP:0100589	Urogenital fistula
26281	FGF20	HP:0010497	Sirenomelia
26281	FGF20	HP:0002242	Abnormal intestine morphology
26281	FGF20	HP:0001958	Nonketotic hypoglycemia
26281	FGF20	HP:0030674	Antenatal onset
26281	FGF20	HP:0030680	Abnormality of cardiovascular system morphology
26281	FGF20	HP:0100335	Non-midline cleft lip
26281	FGF20	HP:0000286	Epicanthus
26281	FGF20	HP:0005107	Abnormal sacrum morphology
26281	FGF20	HP:0001582	Redundant skin
26281	FGF20	HP:0001562	Oligohydramnios
26281	FGF20	HP:0001563	Fetal polyuria
26281	FGF20	HP:0000369	Low-set ears
26281	FGF20	HP:0000316	Hypertelorism
26281	FGF20	HP:0000457	Depressed nasal ridge
26281	FGF20	HP:0025700	Anhydramnios
26284	ERAL1	HP:0000013	Hypoplasia of the uterus
26284	ERAL1	HP:0000007	Autosomal recessive inheritance
26284	ERAL1	HP:0010464	Streak ovary
26284	ERAL1	HP:0008209	Premature ovarian insufficiency
26284	ERAL1	HP:0000786	Primary amenorrhea
26284	ERAL1	HP:0000858	Irregular menstruation
26284	ERAL1	HP:0000869	Secondary amenorrhea
26284	ERAL1	HP:0000407	Sensorineural hearing impairment
26353	HSPB8	HP:0002460	Distal muscle weakness
26353	HSPB8	HP:0001284	Areflexia
26353	HSPB8	HP:0001265	Hyporeflexia
26353	HSPB8	HP:0002522	Areflexia of lower limbs
26353	HSPB8	HP:0000006	Autosomal dominant inheritance
26353	HSPB8	HP:0002650	Scoliosis
26353	HSPB8	HP:0002601	Paresis of extensor muscles of the big toe
26353	HSPB8	HP:0002600	Hyporeflexia of lower limbs
26353	HSPB8	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
26353	HSPB8	HP:0003477	Peripheral axonal neuropathy
26353	HSPB8	HP:0003470	Paralysis
26353	HSPB8	HP:0003444	EMG: chronic denervation signs
26353	HSPB8	HP:0003445	EMG: neuropathic changes
26353	HSPB8	HP:0007078	Decreased amplitude of sensory action potentials
26353	HSPB8	HP:0003693	Distal amyotrophy
26353	HSPB8	HP:0003621	Juvenile onset
26353	HSPB8	HP:0009053	Distal lower limb muscle weakness
26353	HSPB8	HP:0011462	Young adult onset
26353	HSPB8	HP:0002936	Distal sensory impairment
26353	HSPB8	HP:0001761	Pes cavus
26503	SLC17A5	HP:0001290	Generalized hypotonia
26503	SLC17A5	HP:0001250	Seizure
26503	SLC17A5	HP:0001252	Hypotonia
26503	SLC17A5	HP:0001251	Ataxia
26503	SLC17A5	HP:0001249	Intellectual disability
26503	SLC17A5	HP:0001260	Dysarthria
26503	SLC17A5	HP:0001263	Global developmental delay
26503	SLC17A5	HP:0001257	Spasticity
26503	SLC17A5	HP:0002540	Inability to walk
26503	SLC17A5	HP:0003819	Death in childhood
26503	SLC17A5	HP:0002684	Thickened calvaria
26503	SLC17A5	HP:0002680	J-shaped sella turcica
26503	SLC17A5	HP:0000007	Autosomal recessive inheritance
26503	SLC17A5	HP:0000100	Nephrotic syndrome
26503	SLC17A5	HP:0002059	Cerebral atrophy
26503	SLC17A5	HP:0002240	Hepatomegaly
26503	SLC17A5	HP:0002286	Fair hair
26503	SLC17A5	HP:0001010	Hypopigmentation of the skin
26503	SLC17A5	HP:0002305	Athetosis
26503	SLC17A5	HP:0000639	Nystagmus
26503	SLC17A5	HP:0001922	Vacuolated lymphocytes
26503	SLC17A5	HP:0001939	Abnormality of metabolism/homeostasis
26503	SLC17A5	HP:0003025	Metaphyseal irregularity
26503	SLC17A5	HP:0000765	Abnormal thorax morphology
26503	SLC17A5	HP:0000750	Delayed speech and language development
26503	SLC17A5	HP:0000938	Osteopenia
26503	SLC17A5	HP:0000286	Epicanthus
26503	SLC17A5	HP:0000280	Coarse facial features
26503	SLC17A5	HP:0000238	Hydrocephalus
26503	SLC17A5	HP:0000218	High palate
26503	SLC17A5	HP:0000212	Gingival overgrowth
26503	SLC17A5	HP:0001541	Ascites
26503	SLC17A5	HP:0001508	Failure to thrive
26503	SLC17A5	HP:0001510	Growth delay
26503	SLC17A5	HP:0002908	Conjugated hyperbilirubinemia
26503	SLC17A5	HP:0001622	Premature birth
26503	SLC17A5	HP:0001640	Cardiomegaly
26503	SLC17A5	HP:0001635	Congestive heart failure
26503	SLC17A5	HP:0000463	Anteverted nares
26503	SLC17A5	HP:0001789	Hydrops fetalis
26503	SLC17A5	HP:0001744	Splenomegaly
26503	SLC17A5	HP:0001760	Abnormal foot morphology
26503	SLC17A5	HP:0000508	Ptosis
26503	SLC17A5	HP:0000577	Exotropia
26504	CNNM4	HP:0007401	Macular atrophy
26504	CNNM4	HP:0012043	Pendular nystagmus
26504	CNNM4	HP:0000007	Autosomal recessive inheritance
26504	CNNM4	HP:0033785	Enamel agenesis
26504	CNNM4	HP:0006286	Yellow-brown discoloration of the teeth
26504	CNNM4	HP:0003593	Infantile onset
26504	CNNM4	HP:0008499	High hypermetropia
26504	CNNM4	HP:0000639	Nystagmus
26504	CNNM4	HP:0000648	Optic atrophy
26504	CNNM4	HP:0000613	Photophobia
26504	CNNM4	HP:0000682	Abnormal dental enamel morphology
26504	CNNM4	HP:0000662	Nyctalopia
26504	CNNM4	HP:0000670	Carious teeth
26504	CNNM4	HP:0000705	Amelogenesis imperfecta
26504	CNNM4	HP:0007703	Abnormality of retinal pigmentation
26504	CNNM4	HP:0007737	Bone spicule pigmentation of the retina
26504	CNNM4	HP:0007843	Attenuation of retinal blood vessels
26504	CNNM4	HP:0007814	Retinal pigment epithelial mottling
26504	CNNM4	HP:0007803	Monochromacy
26504	CNNM4	HP:0011073	Abnormality of dental color
26504	CNNM4	HP:0000505	Visual impairment
26504	CNNM4	HP:0000575	Scotoma
26504	CNNM4	HP:0000551	Color vision defect
26504	CNNM4	HP:0000548	Cone/cone-rod dystrophy
26504	CNNM4	HP:0000543	Optic disc pallor
26509	MYOF	HP:0000006	Autosomal dominant inheritance
26509	MYOF	HP:0031244	Swollen lip
26509	MYOF	HP:0033250	Nailfold capillary tortuosity
26509	MYOF	HP:0100665	Angioedema
26509	MYOF	HP:0000282	Facial edema
26509	MYOF	HP:0030254	Nail bed hemorrhage
26511	CHIC2	HP:0000006	Autosomal dominant inheritance
26511	CHIC2	HP:0001428	Somatic mutation
26511	CHIC2	HP:0004808	Acute myeloid leukemia
26525	IL36RN	HP:0003765	Psoriasiform dermatitis
26525	IL36RN	HP:0025252	Geographic tongue
26525	IL36RN	HP:0000007	Autosomal recessive inheritance
26525	IL36RN	HP:0040313	Oligoarthritis
26525	IL36RN	HP:0011897	Neutrophilia
26525	IL36RN	HP:0003593	Infantile onset
26525	IL36RN	HP:0008404	Nail dystrophy
26525	IL36RN	HP:0001036	Parakeratosis
26525	IL36RN	HP:0025092	Epidermal acanthosis
26525	IL36RN	HP:0200039	Pustule
26525	IL36RN	HP:0010783	Erythema
26525	IL36RN	HP:0003623	Neonatal onset
26525	IL36RN	HP:0003621	Juvenile onset
26525	IL36RN	HP:0001974	Leukocytosis
26525	IL36RN	HP:0001945	Fever
26525	IL36RN	HP:0011463	Childhood onset
26525	IL36RN	HP:0011462	Young adult onset
26525	IL36RN	HP:0005764	Polyarticular arthritis
26525	IL36RN	HP:0000221	Furrowed tongue
26525	IL36RN	HP:0030151	Cholangitis
26525	IL36RN	HP:0011227	Elevated circulating C-reactive protein concentration
26580	BSCL2	HP:0001176	Large hands
26580	BSCL2	HP:0001171	Split hand
26580	BSCL2	HP:0025128	Reduced intraabdominal adipose tissue
26580	BSCL2	HP:0002495	Impaired vibratory sensation
26580	BSCL2	HP:0002460	Distal muscle weakness
26580	BSCL2	HP:0002451	Limb dystonia
26580	BSCL2	HP:0002448	Progressive encephalopathy
26580	BSCL2	HP:0007272	Progressive psychomotor deterioration
26580	BSCL2	HP:0007256	Abnormal pyramidal sign
26580	BSCL2	HP:0010875	Chaddock reflex
26580	BSCL2	HP:0003758	Reduced subcutaneous adipose tissue
26580	BSCL2	HP:0003716	Generalized muscular appearance from birth
26580	BSCL2	HP:0003712	Skeletal muscle hypertrophy
26580	BSCL2	HP:0001298	Encephalopathy
26580	BSCL2	HP:0001268	Mental deterioration
26580	BSCL2	HP:0001256	Intellectual disability, mild
26580	BSCL2	HP:0001250	Seizure
26580	BSCL2	HP:0001251	Ataxia
26580	BSCL2	HP:0001249	Intellectual disability
26580	BSCL2	HP:0002591	Polyphagia
26580	BSCL2	HP:0001263	Global developmental delay
26580	BSCL2	HP:0001258	Spastic paraplegia
26580	BSCL2	HP:0001257	Spasticity
26580	BSCL2	HP:0007340	Lower limb muscle weakness
26580	BSCL2	HP:0008665	Clitoral hypertrophy
26580	BSCL2	HP:0002529	Neuronal loss in central nervous system
26580	BSCL2	HP:0003809	Reduced intrathoracic adipose tissue
26580	BSCL2	HP:0000098	Tall stature
26580	BSCL2	HP:0012062	Bone cyst
26580	BSCL2	HP:0001397	Hepatic steatosis
26580	BSCL2	HP:0000065	Labial hypertrophy
26580	BSCL2	HP:0001394	Cirrhosis
26580	BSCL2	HP:0001348	Brisk reflexes
26580	BSCL2	HP:0001347	Hyperreflexia
26580	BSCL2	HP:0008887	Adipose tissue loss
26580	BSCL2	HP:0001332	Dystonia
26580	BSCL2	HP:0000007	Autosomal recessive inheritance
26580	BSCL2	HP:0001337	Tremor
26580	BSCL2	HP:0000006	Autosomal dominant inheritance
26580	BSCL2	HP:0001336	Myoclonus
26580	BSCL2	HP:0000158	Macroglossia
26580	BSCL2	HP:0000144	Decreased fertility
26580	BSCL2	HP:0000141	Amenorrhea
26580	BSCL2	HP:0000147	Polycystic ovaries
26580	BSCL2	HP:0008944	Distal lower limb amyotrophy
26580	BSCL2	HP:0001436	Abnormality of the foot musculature
26580	BSCL2	HP:0005978	Type II diabetes mellitus
26580	BSCL2	HP:0100543	Cognitive impairment
26580	BSCL2	HP:0002066	Gait ataxia
26580	BSCL2	HP:0002064	Spastic gait
26580	BSCL2	HP:0003392	First dorsal interossei muscle weakness
26580	BSCL2	HP:0002061	Lower limb spasticity
26580	BSCL2	HP:0003393	Thenar muscle atrophy
26580	BSCL2	HP:0002059	Cerebral atrophy
26580	BSCL2	HP:0010465	Precocious puberty in females
26580	BSCL2	HP:0002155	Hypertriglyceridemia
26580	BSCL2	HP:0003487	Babinski sign
26580	BSCL2	HP:0003484	Upper limb muscle weakness
26580	BSCL2	HP:0002133	Status epilepticus
26580	BSCL2	HP:0003431	Decreased motor nerve conduction velocity
26580	BSCL2	HP:0003426	First dorsal interossei muscle atrophy
26580	BSCL2	HP:0003427	Thenar muscle weakness
26580	BSCL2	HP:0003435	Cold-induced hand cramps
26580	BSCL2	HP:0002166	Impaired vibration sensation in the lower limbs
26580	BSCL2	HP:0002162	Low posterior hairline
26580	BSCL2	HP:0002174	Postural tremor
26580	BSCL2	HP:0002275	Poor motor coordination
26580	BSCL2	HP:0002273	Tetraparesis
26580	BSCL2	HP:0003577	Congenital onset
26580	BSCL2	HP:0002240	Hepatomegaly
26580	BSCL2	HP:0003581	Adult onset
26580	BSCL2	HP:0002230	Generalized hirsutism
26580	BSCL2	HP:0033383	Decreased compound muscle action potential amplitude
26580	BSCL2	HP:0003693	Distal amyotrophy
26580	BSCL2	HP:0002360	Sleep disturbance
26580	BSCL2	HP:0002359	Frequent falls
26580	BSCL2	HP:0002376	Developmental regression
26580	BSCL2	HP:0002371	Loss of speech
26580	BSCL2	HP:0003676	Progressive
26580	BSCL2	HP:0002340	Caudate atrophy
26580	BSCL2	HP:0001007	Hirsutism
26580	BSCL2	HP:0002355	Difficulty walking
26580	BSCL2	HP:0001015	Prominent superficial veins
26580	BSCL2	HP:0003677	Slowly progressive
26580	BSCL2	HP:0002317	Unsteady gait
26580	BSCL2	HP:0003621	Juvenile onset
26580	BSCL2	HP:0007178	Motor polyneuropathy
26580	BSCL2	HP:0006858	Impaired distal proprioception
26580	BSCL2	HP:0009064	Generalized lipodystrophy
26580	BSCL2	HP:0009053	Distal lower limb muscle weakness
26580	BSCL2	HP:0009027	Foot dorsiflexor weakness
26580	BSCL2	HP:0001999	Abnormal facial shape
26580	BSCL2	HP:0006937	Impaired distal tactile sensation
26580	BSCL2	HP:0005616	Accelerated skeletal maturation
26580	BSCL2	HP:0000752	Hyperactivity
26580	BSCL2	HP:0011407	Proportionate tall stature
26580	BSCL2	HP:0000750	Delayed speech and language development
26580	BSCL2	HP:0009130	Hand muscle atrophy
26580	BSCL2	HP:0009125	Lipodystrophy
26580	BSCL2	HP:0000787	Nephrolithiasis
26580	BSCL2	HP:0003124	Hypercholesterolemia
26580	BSCL2	HP:0030796	Increased C-peptide level
26580	BSCL2	HP:0003198	Myopathy
26580	BSCL2	HP:0000877	Insulin-resistant diabetes mellitus at puberty
26580	BSCL2	HP:0000876	Oligomenorrhea
26580	BSCL2	HP:0000855	Insulin resistance
26580	BSCL2	HP:0000868	Decreased fertility in females
26580	BSCL2	HP:0000842	Hyperinsulinemia
26580	BSCL2	HP:0000819	Diabetes mellitus
26580	BSCL2	HP:0000822	Hypertension
26580	BSCL2	HP:0003247	Overgrowth of external genitalia
26580	BSCL2	HP:0040217	Elevated hemoglobin A1c
26580	BSCL2	HP:0003292	Decreased serum leptin
26580	BSCL2	HP:0030839	Knee pain
26580	BSCL2	HP:0030838	Hip pain
26580	BSCL2	HP:0000998	Hypertrichosis
26580	BSCL2	HP:0000956	Acanthosis nigricans
26580	BSCL2	HP:0040131	Abnormal motor nerve conduction velocity
26580	BSCL2	HP:0008081	Pes valgus
26580	BSCL2	HP:0000280	Coarse facial features
26580	BSCL2	HP:0000294	Low anterior hairline
26580	BSCL2	HP:0005144	Ventricular septal hypertrophy
26580	BSCL2	HP:0002878	Respiratory failure
26580	BSCL2	HP:0001544	Prominent umbilicus
26580	BSCL2	HP:0001537	Umbilical hernia
26580	BSCL2	HP:0001508	Failure to thrive
26580	BSCL2	HP:0031374	Ankle weakness
26580	BSCL2	HP:0002833	Cystic angiomatosis of bone
26580	BSCL2	HP:0002936	Distal sensory impairment
26580	BSCL2	HP:0002910	Elevated hepatic transaminase
26580	BSCL2	HP:0000336	Prominent supraorbital ridges
26580	BSCL2	HP:0000325	Triangular face
26580	BSCL2	HP:0001620	High pitched voice
26580	BSCL2	HP:0001639	Hypertrophic cardiomyopathy
26580	BSCL2	HP:0001635	Congestive heart failure
26580	BSCL2	HP:0000303	Mandibular prognathia
26580	BSCL2	HP:0001735	Acute pancreatitis
26580	BSCL2	HP:0000400	Macrotia
26580	BSCL2	HP:0030237	Hand muscle weakness
26580	BSCL2	HP:0001763	Pes planus
26580	BSCL2	HP:0001765	Hammertoe
26580	BSCL2	HP:0001744	Splenomegaly
26580	BSCL2	HP:0001761	Pes cavus
26580	BSCL2	HP:0001833	Long foot
26585	GREM1	HP:0002576	Intussusception
26585	GREM1	HP:0002573	Hematochezia
26585	GREM1	HP:0100896	Rectal polyposis
26585	GREM1	HP:0007378	Neoplasm of the gastrointestinal tract
26585	GREM1	HP:0012198	Juvenile colonic polyposis
26585	GREM1	HP:0012183	Hyperplastic colonic polyposis
26585	GREM1	HP:0012125	Prostate cancer
26585	GREM1	HP:0012114	Endometrial carcinoma
26585	GREM1	HP:0040276	Adenocarcinoma of the colon
26585	GREM1	HP:0100743	Neoplasm of the rectum
26585	GREM1	HP:0200063	Colorectal polyposis
26585	GREM1	HP:0005505	Refractory anemia
26585	GREM1	HP:0003003	Colon cancer
26585	GREM1	HP:0100245	Desmoid tumors
26585	GREM1	HP:0002890	Thyroid carcinoma
26585	GREM1	HP:0005227	Adenomatous colonic polyposis
26585	GREM1	HP:0006771	Duodenal adenocarcinoma
26585	GREM1	HP:0001892	Abnormal bleeding
26608	TBL2	HP:0001181	Adducted thumb
26608	TBL2	HP:0001136	Retinal arteriolar tortuosity
26608	TBL2	HP:0010880	Increased nuchal translucency
26608	TBL2	HP:0001297	Stroke
26608	TBL2	HP:0100817	Renovascular hypertension
26608	TBL2	HP:0001288	Gait disturbance
26608	TBL2	HP:0001252	Hypotonia
26608	TBL2	HP:0001251	Ataxia
26608	TBL2	HP:0001249	Intellectual disability
26608	TBL2	HP:0001260	Dysarthria
26608	TBL2	HP:0001257	Spasticity
26608	TBL2	HP:0001231	Abnormal fingernail morphology
26608	TBL2	HP:0002575	Tracheoesophageal fistula
26608	TBL2	HP:0008736	Hypoplasia of penis
26608	TBL2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
26608	TBL2	HP:0008661	Urethral stenosis
26608	TBL2	HP:0000089	Renal hypoplasia
26608	TBL2	HP:0000083	Renal insufficiency
26608	TBL2	HP:0000093	Proteinuria
26608	TBL2	HP:0000076	Vesicoureteral reflux
26608	TBL2	HP:0000075	Renal duplication
26608	TBL2	HP:0000044	Hypogonadotropic hypogonadism
26608	TBL2	HP:0001388	Joint laxity
26608	TBL2	HP:0001387	Joint stiffness
26608	TBL2	HP:0000023	Inguinal hernia
26608	TBL2	HP:0000015	Bladder diverticulum
26608	TBL2	HP:0000014	Abnormality of the bladder
26608	TBL2	HP:0001347	Hyperreflexia
26608	TBL2	HP:0001361	Nystagmus-induced head nodding
26608	TBL2	HP:0000025	Functional abnormality of male internal genitalia
26608	TBL2	HP:0000028	Cryptorchidism
26608	TBL2	HP:0007495	Prematurely aged appearance
26608	TBL2	HP:0007477	Abnormal dermatoglyphics
26608	TBL2	HP:0000010	Recurrent urinary tract infections
26608	TBL2	HP:0001337	Tremor
26608	TBL2	HP:0001310	Dysmetria
26608	TBL2	HP:0002637	Cerebral ischemia
26608	TBL2	HP:0002650	Scoliosis
26608	TBL2	HP:0002644	Abnormal pelvic girdle bone morphology
26608	TBL2	HP:0002623	Overriding aorta
26608	TBL2	HP:0000179	Thick lower lip vermilion
26608	TBL2	HP:0000158	Macroglossia
26608	TBL2	HP:0000154	Wide mouth
26608	TBL2	HP:0000147	Polycystic ovaries
26608	TBL2	HP:0000121	Nephrocalcinosis
26608	TBL2	HP:0000125	Pelvic kidney
26608	TBL2	HP:0002750	Delayed skeletal maturation
26608	TBL2	HP:0002024	Malabsorption
26608	TBL2	HP:0002020	Gastroesophageal reflux
26608	TBL2	HP:0002019	Constipation
26608	TBL2	HP:0002017	Nausea and vomiting
26608	TBL2	HP:0002035	Rectal prolapse
26608	TBL2	HP:0002027	Abdominal pain
26608	TBL2	HP:0003312	Abnormal form of the vertebral bodies
26608	TBL2	HP:0003307	Hyperlordosis
26608	TBL2	HP:0005978	Type II diabetes mellitus
26608	TBL2	HP:0100539	Periorbital edema
26608	TBL2	HP:0100545	Arterial stenosis
26608	TBL2	HP:0002071	Abnormality of extrapyramidal motor function
26608	TBL2	HP:0002141	Gait imbalance
26608	TBL2	HP:0002150	Hypercalciuria
26608	TBL2	HP:0002120	Cerebral cortical atrophy
26608	TBL2	HP:0003422	Vertebral segmentation defect
26608	TBL2	HP:0002183	Phonophobia
26608	TBL2	HP:0002167	Abnormality of speech or vocalization
26608	TBL2	HP:0010526	Dysgraphia
26608	TBL2	HP:0002253	Colonic diverticula
26608	TBL2	HP:0002205	Recurrent respiratory infections
26608	TBL2	HP:0100785	Insomnia
26608	TBL2	HP:0010662	Abnormality of the diencephalon
26608	TBL2	HP:0010669	Hypoplasia of the zygomatic bone
26608	TBL2	HP:0007018	Attention deficit hyperactivity disorder
26608	TBL2	HP:0001052	Nevus flammeus
26608	TBL2	HP:0002376	Developmental regression
26608	TBL2	HP:0200021	Down-sloping shoulders
26608	TBL2	HP:0100659	Abnormal cerebral vascular morphology
26608	TBL2	HP:0010807	Open bite
26608	TBL2	HP:0100613	Death in early adulthood
26608	TBL2	HP:0001081	Cholelithiasis
26608	TBL2	HP:0008499	High hypermetropia
26608	TBL2	HP:0010780	Hyperacusis
26608	TBL2	HP:0002308	Chiari malformation
26608	TBL2	HP:0004969	Peripheral pulmonary artery stenosis
26608	TBL2	HP:0004209	Clinodactyly of the 5th finger
26608	TBL2	HP:0004295	Abnormal gastric mucosa morphology
26608	TBL2	HP:0005562	Multiple renal cysts
26608	TBL2	HP:0001969	Abnormal tubulointerstitial morphology
26608	TBL2	HP:0000635	Blue irides
26608	TBL2	HP:0000632	Lacrimation abnormality
26608	TBL2	HP:0000627	Posterior embryotoxon
26608	TBL2	HP:0000682	Abnormal dental enamel morphology
26608	TBL2	HP:0000691	Microdontia
26608	TBL2	HP:0000689	Dental malocclusion
26608	TBL2	HP:0000670	Carious teeth
26608	TBL2	HP:0012639	Abnormal nervous system morphology
26608	TBL2	HP:0000668	Hypodontia
26608	TBL2	HP:0004322	Short stature
26608	TBL2	HP:0004306	Abnormal endocardium morphology
26608	TBL2	HP:0004305	Involuntary movements
26608	TBL2	HP:0003072	Hypercalcemia
26608	TBL2	HP:0004381	Supravalvular aortic stenosis
26608	TBL2	HP:0004398	Peptic ulcer
26608	TBL2	HP:0005692	Joint hyperflexibility
26608	TBL2	HP:0003028	Abnormality of the ankle
26608	TBL2	HP:0100025	Overfriendliness
26608	TBL2	HP:0000767	Pectus excavatum
26608	TBL2	HP:0000739	Anxiety
26608	TBL2	HP:0000716	Depression
26608	TBL2	HP:0000717	Autism
26608	TBL2	HP:0000722	Compulsive behaviors
26608	TBL2	HP:0000787	Nephrolithiasis
26608	TBL2	HP:0003119	Abnormal circulating lipid concentration
26608	TBL2	HP:0004428	Elfin facies
26608	TBL2	HP:0003198	Myopathy
26608	TBL2	HP:0003196	Short nose
26608	TBL2	HP:0000826	Precocious puberty
26608	TBL2	HP:0000822	Hypertension
26608	TBL2	HP:0000821	Hypothyroidism
26608	TBL2	HP:0003236	Elevated circulating creatine kinase concentration
26608	TBL2	HP:0003298	Spina bifida occulta
26608	TBL2	HP:0000960	Sacral dimple
26608	TBL2	HP:0000939	Osteoporosis
26608	TBL2	HP:0000938	Osteopenia
26608	TBL2	HP:0100240	Synostosis of joints
26608	TBL2	HP:0008053	Aplasia/Hypoplasia of the iris
26608	TBL2	HP:0007720	Flat cornea
26608	TBL2	HP:0000286	Epicanthus
26608	TBL2	HP:0000280	Coarse facial features
26608	TBL2	HP:0000275	Narrow face
26608	TBL2	HP:0005113	Aortic arch aneurysm
26608	TBL2	HP:0002829	Arthralgia
26608	TBL2	HP:0002808	Kyphosis
26608	TBL2	HP:0000252	Microcephaly
26608	TBL2	HP:0001582	Redundant skin
26608	TBL2	HP:0000212	Gingival overgrowth
26608	TBL2	HP:0000232	Everted lower lip vermilion
26608	TBL2	HP:0001531	Failure to thrive in infancy
26608	TBL2	HP:0002857	Genu valgum
26608	TBL2	HP:0001537	Umbilical hernia
26608	TBL2	HP:0001513	Obesity
26608	TBL2	HP:0000389	Chronic otitis media
26608	TBL2	HP:0001609	Hoarse voice
26608	TBL2	HP:0001608	Abnormality of the voice
26608	TBL2	HP:0001618	Dysphonia
26608	TBL2	HP:0006482	Abnormality of dental morphology
26608	TBL2	HP:0000368	Low-set, posteriorly rotated ears
26608	TBL2	HP:0001671	Abnormal cardiac septum morphology
26608	TBL2	HP:0000343	Long philtrum
26608	TBL2	HP:0011001	Increased bone mineral density
26608	TBL2	HP:0000337	Broad forehead
26608	TBL2	HP:0002999	Patellar dislocation
26608	TBL2	HP:0000348	High forehead
26608	TBL2	HP:0000347	Micrognathia
26608	TBL2	HP:0001647	Bicuspid aortic valve
26608	TBL2	HP:0001643	Patent ductus arteriosus
26608	TBL2	HP:0001642	Pulmonic stenosis
26608	TBL2	HP:0001645	Sudden cardiac death
26608	TBL2	HP:0002974	Radioulnar synostosis
26608	TBL2	HP:0001658	Myocardial infarction
26608	TBL2	HP:0001653	Mitral regurgitation
26608	TBL2	HP:0001629	Ventricular septal defect
26608	TBL2	HP:0001626	Abnormality of the cardiovascular system
26608	TBL2	HP:0001640	Cardiomegaly
26608	TBL2	HP:0001639	Hypertrophic cardiomyopathy
26608	TBL2	HP:0001636	Tetralogy of Fallot
26608	TBL2	HP:0001635	Congestive heart failure
26608	TBL2	HP:0000307	Pointed chin
26608	TBL2	HP:0001631	Atrial septal defect
26608	TBL2	HP:0001634	Mitral valve prolapse
26608	TBL2	HP:0007957	Corneal opacity
26608	TBL2	HP:0005344	Abnormal carotid artery morphology
26608	TBL2	HP:0000407	Sensorineural hearing impairment
26608	TBL2	HP:0000400	Macrotia
26608	TBL2	HP:0000486	Strabismus
26608	TBL2	HP:0000485	Megalocornea
26608	TBL2	HP:0000464	Abnormality of the neck
26608	TBL2	HP:0012433	Abnormal social behavior
26608	TBL2	HP:0001763	Pes planus
26608	TBL2	HP:0000411	Protruding ear
26608	TBL2	HP:0000431	Wide nasal bridge
26608	TBL2	HP:0000518	Cataract
26608	TBL2	HP:0001822	Hallux valgus
26608	TBL2	HP:0000505	Visual impairment
26608	TBL2	HP:0000501	Glaucoma
26608	TBL2	HP:0001800	Hypoplastic toenails
26608	TBL2	HP:0000581	Blepharophimosis
26608	TBL2	HP:0000545	Myopia
26610	ELP4	HP:0001132	Lens subluxation
26610	ELP4	HP:0000006	Autosomal dominant inheritance
26610	ELP4	HP:0003577	Congenital onset
26610	ELP4	HP:0000646	Amblyopia
26610	ELP4	HP:0000648	Optic atrophy
26610	ELP4	HP:0000612	Iris coloboma
26610	ELP4	HP:0000518	Cataract
26610	ELP4	HP:0000526	Aniridia
26873	OPLAH	HP:0008672	Calcium oxalate nephrolithiasis
26873	OPLAH	HP:0000007	Autosomal recessive inheritance
26873	OPLAH	HP:0000006	Autosomal dominant inheritance
26873	OPLAH	HP:0410132	Increased level of L-pyroglutamic acid in urine
26873	OPLAH	HP:0002027	Abdominal pain
26873	OPLAH	HP:0002014	Diarrhea
26873	OPLAH	HP:0002013	Vomiting
26873	OPLAH	HP:0004387	Enterocolitis
26873	OPLAH	HP:0003137	Prolinuria
26873	OPLAH	HP:0040142	Reduced 5-oxoprolinase level
26960	NBEA	HP:0001250	Seizure
26960	NBEA	HP:0001252	Hypotonia
26960	NBEA	HP:0001263	Global developmental delay
26960	NBEA	HP:0007359	Focal-onset seizure
26960	NBEA	HP:0001332	Dystonia
26960	NBEA	HP:0000006	Autosomal dominant inheritance
26960	NBEA	HP:0002719	Recurrent infections
26960	NBEA	HP:0002069	Bilateral tonic-clonic seizure
26960	NBEA	HP:0002121	Generalized non-motor (absence) seizure
26960	NBEA	HP:0002136	Broad-based gait
26960	NBEA	HP:0003593	Infantile onset
26960	NBEA	HP:0007018	Attention deficit hyperactivity disorder
26960	NBEA	HP:0002376	Developmental regression
26960	NBEA	HP:0031936	Delayed ability to walk
26960	NBEA	HP:0000750	Delayed speech and language development
26960	NBEA	HP:0000718	Aggressive behavior
26960	NBEA	HP:0000729	Autistic behavior
26960	NBEA	HP:0011463	Childhood onset
26960	NBEA	HP:0000964	Eczema
26960	NBEA	HP:0000252	Microcephaly
26960	NBEA	HP:0032794	Myoclonic seizure
26960	NBEA	HP:0011182	Interictal epileptiform activity
26999	CYFIP2	HP:0010851	EEG with burst suppression
26999	CYFIP2	HP:0002421	Poor head control
26999	CYFIP2	HP:0001298	Encephalopathy
26999	CYFIP2	HP:0001290	Generalized hypotonia
26999	CYFIP2	HP:0001272	Cerebellar atrophy
26999	CYFIP2	HP:0001273	Abnormal corpus callosum morphology
26999	CYFIP2	HP:0001268	Mental deterioration
26999	CYFIP2	HP:0001250	Seizure
26999	CYFIP2	HP:0001251	Ataxia
26999	CYFIP2	HP:0001249	Intellectual disability
26999	CYFIP2	HP:0001265	Hyporeflexia
26999	CYFIP2	HP:0001263	Global developmental delay
26999	CYFIP2	HP:0001257	Spasticity
26999	CYFIP2	HP:0002553	Highly arched eyebrow
26999	CYFIP2	HP:0002521	Hypsarrhythmia
26999	CYFIP2	HP:0002509	Limb hypertonia
26999	CYFIP2	HP:0001347	Hyperreflexia
26999	CYFIP2	HP:0001357	Plagiocephaly
26999	CYFIP2	HP:0001344	Absent speech
26999	CYFIP2	HP:0001337	Tremor
26999	CYFIP2	HP:0000006	Autosomal dominant inheritance
26999	CYFIP2	HP:0001336	Myoclonus
26999	CYFIP2	HP:0001315	Reduced tendon reflexes
26999	CYFIP2	HP:0002020	Gastroesophageal reflux
26999	CYFIP2	HP:0002063	Rigidity
26999	CYFIP2	HP:0002059	Cerebral atrophy
26999	CYFIP2	HP:0002119	Ventriculomegaly
26999	CYFIP2	HP:0002133	Status epilepticus
26999	CYFIP2	HP:0100710	Impulsivity
26999	CYFIP2	HP:0200134	Epileptic encephalopathy
26999	CYFIP2	HP:0007018	Attention deficit hyperactivity disorder
26999	CYFIP2	HP:0011968	Feeding difficulties
26999	CYFIP2	HP:0002376	Developmental regression
26999	CYFIP2	HP:0002355	Difficulty walking
26999	CYFIP2	HP:0002317	Unsteady gait
26999	CYFIP2	HP:0010844	EEG with multifocal slow activity
26999	CYFIP2	HP:0100660	Dyskinesia
26999	CYFIP2	HP:0010804	Tented upper lip vermilion
26999	CYFIP2	HP:0000639	Nystagmus
26999	CYFIP2	HP:0000648	Optic atrophy
26999	CYFIP2	HP:0000668	Hypodontia
26999	CYFIP2	HP:0004322	Short stature
26999	CYFIP2	HP:0004305	Involuntary movements
26999	CYFIP2	HP:0000750	Delayed speech and language development
26999	CYFIP2	HP:0000717	Autism
26999	CYFIP2	HP:0000708	Atypical behavior
26999	CYFIP2	HP:0011443	Abnormality of coordination
26999	CYFIP2	HP:0000252	Microcephaly
26999	CYFIP2	HP:0001558	Decreased fetal movement
26999	CYFIP2	HP:0001508	Failure to thrive
26999	CYFIP2	HP:0000348	High forehead
26999	CYFIP2	HP:0000494	Downslanted palpebral fissures
26999	CYFIP2	HP:0012444	Brain atrophy
26999	CYFIP2	HP:0012447	Abnormal myelination
26999	CYFIP2	HP:0000508	Ptosis
26999	CYFIP2	HP:0000504	Abnormality of vision
26999	CYFIP2	HP:0012547	Abnormal involuntary eye movements
26999	CYFIP2	HP:0000546	Retinal degeneration
27010	TPK1	HP:0002490	Increased CSF lactate
27010	TPK1	HP:0020221	Clonic seizure
27010	TPK1	HP:0001298	Encephalopathy
27010	TPK1	HP:0001288	Gait disturbance
27010	TPK1	HP:0001250	Seizure
27010	TPK1	HP:0001252	Hypotonia
27010	TPK1	HP:0001251	Ataxia
27010	TPK1	HP:0001260	Dysarthria
27010	TPK1	HP:0001263	Global developmental delay
27010	TPK1	HP:0001257	Spasticity
27010	TPK1	HP:0001332	Dystonia
27010	TPK1	HP:0000007	Autosomal recessive inheritance
27010	TPK1	HP:0002080	Intention tremor
27010	TPK1	HP:0002066	Gait ataxia
27010	TPK1	HP:0002061	Lower limb spasticity
27010	TPK1	HP:0002078	Truncal ataxia
27010	TPK1	HP:0002151	Increased serum lactate
27010	TPK1	HP:0002131	Episodic ataxia
27010	TPK1	HP:0003593	Infantile onset
27010	TPK1	HP:0002283	Global brain atrophy
27010	TPK1	HP:0002376	Developmental regression
27010	TPK1	HP:0002371	Loss of speech
27010	TPK1	HP:0002355	Difficulty walking
27010	TPK1	HP:0002321	Vertigo
27010	TPK1	HP:0000639	Nystagmus
27010	TPK1	HP:0000602	Ophthalmoplegia
27010	TPK1	HP:0000750	Delayed speech and language development
27010	TPK1	HP:0011463	Childhood onset
27010	TPK1	HP:0003128	Lactic acidosis
27010	TPK1	HP:0000252	Microcephaly
27010	TPK1	HP:0001618	Dysphonia
27010	TPK1	HP:0001712	Left ventricular hypertrophy
27010	TPK1	HP:0012402	Increased urine alpha-ketoglutarate concentration
27019	DNAI1	HP:0025177	Peribronchovascular interstitial thickening
27019	DNAI1	HP:0002566	Intestinal malrotation
27019	DNAI1	HP:0001217	Clubbing
27019	DNAI1	HP:0002688	Absent frontal sinuses
27019	DNAI1	HP:0000007	Autosomal recessive inheritance
27019	DNAI1	HP:0001334	Communicating hydrocephalus
27019	DNAI1	HP:0002643	Neonatal respiratory distress
27019	DNAI1	HP:0000119	Abnormality of the genitourinary system
27019	DNAI1	HP:0032543	Lithoptysis
27019	DNAI1	HP:0031245	Productive cough
27019	DNAI1	HP:0002011	Morphological central nervous system abnormality
27019	DNAI1	HP:0002090	Pneumonia
27019	DNAI1	HP:0100582	Nasal polyposis
27019	DNAI1	HP:0002119	Ventriculomegaly
27019	DNAI1	HP:0002110	Bronchiectasis
27019	DNAI1	HP:0008222	Female infertility
27019	DNAI1	HP:0002257	Chronic rhinitis
27019	DNAI1	HP:0100750	Atelectasis
27019	DNAI1	HP:0032016	Abnormal sputum
27019	DNAI1	HP:0011947	Respiratory tract infection
27019	DNAI1	HP:0002315	Headache
27019	DNAI1	HP:0010772	Anomalous pulmonary venous return
27019	DNAI1	HP:0030680	Abnormality of cardiovascular system morphology
27019	DNAI1	HP:0000750	Delayed speech and language development
27019	DNAI1	HP:0000924	Abnormality of the skeletal system
27019	DNAI1	HP:0011539	Atrial situs ambiguous
27019	DNAI1	HP:0011535	Abnormal atrial arrangement
27019	DNAI1	HP:0030828	Wheezing
27019	DNAI1	HP:0003251	Male infertility
27019	DNAI1	HP:0011617	Pulmonary situs ambiguus
27019	DNAI1	HP:0025576	Abnormal inferior vena cava morphology
27019	DNAI1	HP:0012265	Ciliary dyskinesia
27019	DNAI1	HP:0012263	Immotile cilia
27019	DNAI1	HP:0012256	Absent outer dynein arms
27019	DNAI1	HP:0000238	Hydrocephalus
27019	DNAI1	HP:0012206	Abnormal sperm motility
27019	DNAI1	HP:0002878	Respiratory failure
27019	DNAI1	HP:0002837	Recurrent bronchitis
27019	DNAI1	HP:0000389	Chronic otitis media
27019	DNAI1	HP:0006536	Airway obstruction
27019	DNAI1	HP:0001696	Situs inversus totalis
27019	DNAI1	HP:0000365	Hearing impairment
27019	DNAI1	HP:0001669	Transposition of the great arteries
27019	DNAI1	HP:0031456	Ectopic pregnancy
27019	DNAI1	HP:0001627	Abnormal heart morphology
27019	DNAI1	HP:0005301	Persistent left superior vena cava
27019	DNAI1	HP:0000403	Recurrent otitis media
27019	DNAI1	HP:0000405	Conductive hearing impairment
27019	DNAI1	HP:0001719	Double outlet right ventricle
27019	DNAI1	HP:0000481	Abnormal cornea morphology
27019	DNAI1	HP:0000458	Anosmia
27019	DNAI1	HP:0011109	Chronic sinusitis
27019	DNAI1	HP:0001746	Asplenia
27019	DNAI1	HP:0001748	Polysplenia
27019	DNAI1	HP:0001742	Nasal congestion
27019	DNAI1	HP:0005425	Recurrent sinopulmonary infections
27019	DNAI1	HP:0011274	Recurrent mycobacterial infections
27019	DNAI1	HP:0000510	Rod-cone dystrophy
27022	FOXD3	HP:0000006	Autosomal dominant inheritance
27022	FOXD3	HP:0001045	Vitiligo
27022	FOXD3	HP:0003621	Juvenile onset
27022	FOXD3	HP:0000872	Hashimoto thyroiditis
27030	MLH3	HP:0001123	Visual field defect
27030	MLH3	HP:0007256	Abnormal pyramidal sign
27030	MLH3	HP:0001276	Hypertonia
27030	MLH3	HP:0001288	Gait disturbance
27030	MLH3	HP:0100835	Benign neoplasm of the central nervous system
27030	MLH3	HP:0001250	Seizure
27030	MLH3	HP:0001252	Hypotonia
27030	MLH3	HP:0001260	Dysarthria
27030	MLH3	HP:0002516	Increased intracranial pressure
27030	MLH3	HP:0001371	Flexion contracture
27030	MLH3	HP:0002671	Basal cell carcinoma
27030	MLH3	HP:0000006	Autosomal dominant inheritance
27030	MLH3	HP:0012174	Glioblastoma multiforme
27030	MLH3	HP:0012114	Endometrial carcinoma
27030	MLH3	HP:0001428	Somatic mutation
27030	MLH3	HP:0001402	Hepatocellular carcinoma
27030	MLH3	HP:0002024	Malabsorption
27030	MLH3	HP:0002019	Constipation
27030	MLH3	HP:0002017	Nausea and vomiting
27030	MLH3	HP:0002027	Abdominal pain
27030	MLH3	HP:0002076	Migraine
27030	MLH3	HP:0100571	Cardiac diverticulum
27030	MLH3	HP:0100576	Amaurosis fugax
27030	MLH3	HP:0002167	Abnormality of speech or vocalization
27030	MLH3	HP:0010526	Dysgraphia
27030	MLH3	HP:0010524	Agnosia
27030	MLH3	HP:0003401	Paresthesia
27030	MLH3	HP:0002239	Gastrointestinal hemorrhage
27030	MLH3	HP:0100743	Neoplasm of the rectum
27030	MLH3	HP:0007018	Attention deficit hyperactivity disorder
27030	MLH3	HP:0010622	Neoplasm of the skeletal system
27030	MLH3	HP:0002376	Developmental regression
27030	MLH3	HP:0002354	Memory impairment
27030	MLH3	HP:0100660	Dyskinesia
27030	MLH3	HP:0200008	Intestinal polyposis
27030	MLH3	HP:0100615	Ovarian neoplasm
27030	MLH3	HP:0100613	Death in early adulthood
27030	MLH3	HP:0010786	Urinary tract neoplasm
27030	MLH3	HP:0005584	Renal cell carcinoma
27030	MLH3	HP:0003003	Colon cancer
27030	MLH3	HP:0004374	Hemiplegia/hemiparesis
27030	MLH3	HP:0003006	Neuroblastoma
27030	MLH3	HP:0100031	Neoplasm of the thyroid gland
27030	MLH3	HP:0000738	Hallucinations
27030	MLH3	HP:0000737	Irritability
27030	MLH3	HP:0000739	Anxiety
27030	MLH3	HP:0000716	Depression
27030	MLH3	HP:0000708	Atypical behavior
27030	MLH3	HP:0002894	Neoplasm of the pancreas
27030	MLH3	HP:0002893	Pituitary adenoma
27030	MLH3	HP:0002891	Uterine leiomyosarcoma
27030	MLH3	HP:0001522	Death in infancy
27030	MLH3	HP:0012378	Fatigue
27030	MLH3	HP:0006753	Neoplasm of the stomach
27030	MLH3	HP:0006740	Transitional cell carcinoma of the bladder
27030	MLH3	HP:0006725	Pancreatic adenocarcinoma
27030	MLH3	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
27030	MLH3	HP:0001824	Weight loss
27030	MLH3	HP:0000505	Visual impairment
27031	NPHP3	HP:0003774	Stage 5 chronic kidney disease
27031	NPHP3	HP:0001276	Hypertonia
27031	NPHP3	HP:0001251	Ataxia
27031	NPHP3	HP:0001263	Global developmental delay
27031	NPHP3	HP:0002566	Intestinal malrotation
27031	NPHP3	HP:0003811	Neonatal death
27031	NPHP3	HP:0000083	Renal insufficiency
27031	NPHP3	HP:0000090	Nephronophthisis
27031	NPHP3	HP:0000093	Proteinuria
27031	NPHP3	HP:0000092	Renal tubular atrophy
27031	NPHP3	HP:0001396	Cholestasis
27031	NPHP3	HP:0001395	Hepatic fibrosis
27031	NPHP3	HP:0001394	Cirrhosis
27031	NPHP3	HP:0000023	Inguinal hernia
27031	NPHP3	HP:0000007	Autosomal recessive inheritance
27031	NPHP3	HP:0000003	Multicystic kidney dysplasia
27031	NPHP3	HP:0001305	Dandy-Walker malformation
27031	NPHP3	HP:0002612	Congenital hepatic fibrosis
27031	NPHP3	HP:0002613	Biliary cirrhosis
27031	NPHP3	HP:0006276	Hyperechogenic pancreas
27031	NPHP3	HP:0000113	Polycystic kidney dysplasia
27031	NPHP3	HP:0000110	Renal dysplasia
27031	NPHP3	HP:0000108	Renal corticomedullary cysts
27031	NPHP3	HP:0000103	Polyuria
27031	NPHP3	HP:0001433	Hepatosplenomegaly
27031	NPHP3	HP:0000105	Enlarged kidney
27031	NPHP3	HP:0001409	Portal hypertension
27031	NPHP3	HP:0001408	Bile duct proliferation
27031	NPHP3	HP:0001407	Hepatic cysts
27031	NPHP3	HP:0002009	Potter facies
27031	NPHP3	HP:0005999	Ureteral atresia
27031	NPHP3	HP:0002089	Pulmonary hypoplasia
27031	NPHP3	HP:0002190	Choroid plexus cyst
27031	NPHP3	HP:0008209	Premature ovarian insufficiency
27031	NPHP3	HP:0010579	Cone-shaped epiphysis
27031	NPHP3	HP:0003593	Infantile onset
27031	NPHP3	HP:0003577	Congenital onset
27031	NPHP3	HP:0002240	Hepatomegaly
27031	NPHP3	HP:0100732	Pancreatic fibrosis
27031	NPHP3	HP:0100611	Multiple glomerular cysts
27031	NPHP3	HP:0005576	Tubulointerstitial fibrosis
27031	NPHP3	HP:0012622	Chronic kidney disease
27031	NPHP3	HP:0001959	Polydipsia
27031	NPHP3	HP:0004322	Short stature
27031	NPHP3	HP:0000805	Enuresis
27031	NPHP3	HP:0004348	Abnormality of bone mineral density
27031	NPHP3	HP:0000790	Hematuria
27031	NPHP3	HP:0004467	Preauricular pit
27031	NPHP3	HP:0000822	Hypertension
27031	NPHP3	HP:0007703	Abnormality of retinal pigmentation
27031	NPHP3	HP:0000239	Large fontanelles
27031	NPHP3	HP:0001562	Oligohydramnios
27031	NPHP3	HP:0001561	Polyhydramnios
27031	NPHP3	HP:0006563	Malformation of the hepatic ductal plate
27031	NPHP3	HP:0001696	Situs inversus totalis
27031	NPHP3	HP:0001667	Right ventricular hypertrophy
27031	NPHP3	HP:0000348	High forehead
27031	NPHP3	HP:0001650	Aortic valve stenosis
27031	NPHP3	HP:0001643	Patent ductus arteriosus
27031	NPHP3	HP:0030146	Abnormal liver parenchyma morphology
27031	NPHP3	HP:0001631	Atrial septal defect
27031	NPHP3	HP:0001737	Pancreatic cysts
27031	NPHP3	HP:0001732	Abnormality of the pancreas
27031	NPHP3	HP:0012440	Abnormal biliary tract morphology
27031	NPHP3	HP:0001746	Asplenia
27031	NPHP3	HP:0001748	Polysplenia
27031	NPHP3	HP:0001744	Splenomegaly
27031	NPHP3	HP:0000518	Cataract
27031	NPHP3	HP:0000529	Progressive visual loss
27031	NPHP3	HP:0000505	Visual impairment
27031	NPHP3	HP:0001830	Postaxial foot polydactyly
27031	NPHP3	HP:0000556	Retinal dystrophy
27032	ATP2C1	HP:0000006	Autosomal dominant inheritance
27032	ATP2C1	HP:0100792	Acantholysis
27032	ATP2C1	HP:0200037	Skin vesicle
27032	ATP2C1	HP:0200041	Skin erosion
27032	ATP2C1	HP:0010783	Erythema
27032	ATP2C1	HP:0000962	Hyperkeratosis
27034	ACAD8	HP:0001252	Hypotonia
27034	ACAD8	HP:0000007	Autosomal recessive inheritance
27034	ACAD8	HP:0002013	Vomiting
27034	ACAD8	HP:0001944	Dehydration
27034	ACAD8	HP:0001903	Anemia
27034	ACAD8	HP:0011342	Mild global developmental delay
27034	ACAD8	HP:0012734	Ketotic hypoglycemia
27034	ACAD8	HP:0000750	Delayed speech and language development
27034	ACAD8	HP:0003234	Decreased plasma carnitine
27034	ACAD8	HP:0003215	Dicarboxylic aciduria
27034	ACAD8	HP:0045045	Elevated circulating acylcarnitine concentration
27034	ACAD8	HP:0001642	Pulmonic stenosis
27034	ACAD8	HP:0001644	Dilated cardiomyopathy
27040	LAT	HP:0032247	Persistent CMV viremia
27040	LAT	HP:0032218	Decreased proportion of CD4-positive T cells
27040	LAT	HP:0500270	Increased proportion of gamma-delta T cells
27040	LAT	HP:0003819	Death in childhood
27040	LAT	HP:0000007	Autosomal recessive inheritance
27040	LAT	HP:0012176	Abnormal natural killer cell morphology
27040	LAT	HP:0002719	Recurrent infections
27040	LAT	HP:0002716	Lymphadenopathy
27040	LAT	HP:0002721	Immunodeficiency
27040	LAT	HP:0002110	Bronchiectasis
27040	LAT	HP:0004844	Coombs-positive hemolytic anemia
27040	LAT	HP:0020072	Persistent EBV viremia
27040	LAT	HP:0001973	Autoimmune thrombocytopenia
27040	LAT	HP:0004313	Decreased circulating antibody level
27040	LAT	HP:0001522	Death in infancy
27040	LAT	HP:0001508	Failure to thrive
27040	LAT	HP:0006528	Chronic lung disease
27040	LAT	HP:0006532	Recurrent pneumonia
27040	LAT	HP:0002958	Immune dysregulation
27040	LAT	HP:0001744	Splenomegaly
27040	LAT	HP:0001888	Lymphopenia
27063	ANKRD1	HP:0100578	Lipoatrophy
27063	ANKRD1	HP:0003457	EMG abnormality
27063	ANKRD1	HP:0003198	Myopathy
27063	ANKRD1	HP:0003236	Elevated circulating creatine kinase concentration
27063	ANKRD1	HP:0000982	Palmoplantar keratoderma
27063	ANKRD1	HP:0001644	Dilated cardiomyopathy
27063	ANKRD1	HP:0000407	Sensorineural hearing impairment
27063	ANKRD1	HP:0001874	Abnormality of neutrophils
27068	PPA2	HP:0001250	Seizure
27068	PPA2	HP:0001252	Hypotonia
27068	PPA2	HP:0000007	Autosomal recessive inheritance
27068	PPA2	HP:0003593	Infantile onset
27068	PPA2	HP:0100749	Chest pain
27068	PPA2	HP:0003621	Juvenile onset
27068	PPA2	HP:0001942	Metabolic acidosis
27068	PPA2	HP:0011463	Childhood onset
27068	PPA2	HP:0012819	Myocarditis
27068	PPA2	HP:0001685	Myocardial fibrosis
27068	PPA2	HP:0001645	Sudden cardiac death
27068	PPA2	HP:0001662	Bradycardia
27068	PPA2	HP:0001639	Hypertrophic cardiomyopathy
27068	PPA2	HP:0001635	Congestive heart failure
27072	VPS41	HP:0002493	Upper motor neuron dysfunction
27072	VPS41	HP:0002454	Eye of the tiger anomaly of globus pallidus
27072	VPS41	HP:0007325	Generalized dystonia
27072	VPS41	HP:0007256	Abnormal pyramidal sign
27072	VPS41	HP:0001272	Cerebellar atrophy
27072	VPS41	HP:0001270	Motor delay
27072	VPS41	HP:0001250	Seizure
27072	VPS41	HP:0001252	Hypotonia
27072	VPS41	HP:0001251	Ataxia
27072	VPS41	HP:0001249	Intellectual disability
27072	VPS41	HP:0001260	Dysarthria
27072	VPS41	HP:0001263	Global developmental delay
27072	VPS41	HP:0007371	Corpus callosum atrophy
27072	VPS41	HP:0007338	Hypermetric saccades
27072	VPS41	HP:0002540	Inability to walk
27072	VPS41	HP:0001344	Absent speech
27072	VPS41	HP:0000007	Autosomal recessive inheritance
27072	VPS41	HP:0001336	Myoclonus
27072	VPS41	HP:0008936	Axial hypotonia
27072	VPS41	HP:0025404	Abnormal visual fixation
27072	VPS41	HP:0002066	Gait ataxia
27072	VPS41	HP:0002061	Lower limb spasticity
27072	VPS41	HP:0002078	Truncal ataxia
27072	VPS41	HP:0002073	Progressive cerebellar ataxia
27072	VPS41	HP:0002070	Limb ataxia
27072	VPS41	HP:0002058	Myopathic facies
27072	VPS41	HP:0003477	Peripheral axonal neuropathy
27072	VPS41	HP:0003474	Somatic sensory dysfunction
27072	VPS41	HP:0010522	Dyslexia
27072	VPS41	HP:0003593	Infantile onset
27072	VPS41	HP:0002380	Fasciculations
27072	VPS41	HP:0002366	Abnormal lower motor neuron morphology
27072	VPS41	HP:0002317	Unsteady gait
27072	VPS41	HP:0010831	Impaired proprioception
27072	VPS41	HP:0007141	Sensorimotor neuropathy
27072	VPS41	HP:0006855	Cerebellar vermis atrophy
27072	VPS41	HP:0000639	Nystagmus
27072	VPS41	HP:0012678	Iron accumulation in substantia nigra
27072	VPS41	HP:0011463	Childhood onset
27072	VPS41	HP:0007814	Retinal pigment epithelial mottling
27072	VPS41	HP:0000496	Abnormality of eye movement
27072	VPS41	HP:0001761	Pes cavus
27072	VPS41	HP:0000570	Abnormal saccadic eye movements
27072	VPS41	HP:0000543	Optic disc pallor
27077	B9D1	HP:0001177	Preaxial hand polydactyly
27077	B9D1	HP:0001162	Postaxial hand polydactyly
27077	B9D1	HP:0001161	Hand polydactyly
27077	B9D1	HP:0010946	Dilatation of the renal pelvis
27077	B9D1	HP:0002419	Molar tooth sign on MRI
27077	B9D1	HP:0001288	Gait disturbance
27077	B9D1	HP:0001250	Seizure
27077	B9D1	HP:0001252	Hypotonia
27077	B9D1	HP:0001251	Ataxia
27077	B9D1	HP:0001249	Intellectual disability
27077	B9D1	HP:0001263	Global developmental delay
27077	B9D1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
27077	B9D1	HP:0002553	Highly arched eyebrow
27077	B9D1	HP:0000068	Urethral atresia
27077	B9D1	HP:0000062	Ambiguous genitalia
27077	B9D1	HP:0000073	Ureteral duplication
27077	B9D1	HP:0000037	Male pseudohermaphroditism
27077	B9D1	HP:0000028	Cryptorchidism
27077	B9D1	HP:0008872	Feeding difficulties in infancy
27077	B9D1	HP:0000007	Autosomal recessive inheritance
27077	B9D1	HP:0000003	Multicystic kidney dysplasia
27077	B9D1	HP:0001337	Tremor
27077	B9D1	HP:0001305	Dandy-Walker malformation
27077	B9D1	HP:0001320	Cerebellar vermis hypoplasia
27077	B9D1	HP:0002650	Scoliosis
27077	B9D1	HP:0002612	Congenital hepatic fibrosis
27077	B9D1	HP:0000179	Thick lower lip vermilion
27077	B9D1	HP:0000175	Cleft palate
27077	B9D1	HP:0008936	Axial hypotonia
27077	B9D1	HP:0002793	Abnormal pattern of respiration
27077	B9D1	HP:0002007	Frontal bossing
27077	B9D1	HP:0003312	Abnormal form of the vertebral bodies
27077	B9D1	HP:0002085	Occipital encephalocele
27077	B9D1	HP:0002084	Encephalocele
27077	B9D1	HP:0002066	Gait ataxia
27077	B9D1	HP:0010442	Polydactyly
27077	B9D1	HP:0010459	True hermaphroditism
27077	B9D1	HP:0002126	Polymicrogyria
27077	B9D1	HP:0002104	Apnea
27077	B9D1	HP:0003593	Infantile onset
27077	B9D1	HP:0002269	Abnormality of neuronal migration
27077	B9D1	HP:0002251	Aganglionic megacolon
27077	B9D1	HP:0100732	Pancreatic fibrosis
27077	B9D1	HP:0020045	Esodeviation
27077	B9D1	HP:0002323	Anencephaly
27077	B9D1	HP:0009826	Limb undergrowth
27077	B9D1	HP:0006870	Lobar holoprosencephaly
27077	B9D1	HP:0000639	Nystagmus
27077	B9D1	HP:0000648	Optic atrophy
27077	B9D1	HP:0000647	Sclerocornea
27077	B9D1	HP:0000612	Iris coloboma
27077	B9D1	HP:0000657	Oculomotor apraxia
27077	B9D1	HP:0030680	Abnormality of cardiovascular system morphology
27077	B9D1	HP:0034199	Late first trimester onset
27077	B9D1	HP:0004422	Biparietal narrowing
27077	B9D1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
27077	B9D1	HP:0034217	Sonographic non-visualized fetal bladder
27077	B9D1	HP:0010295	Aplasia/Hypoplasia of the tongue
27077	B9D1	HP:0000932	Abnormal posterior cranial fossa morphology
27077	B9D1	HP:0008053	Aplasia/Hypoplasia of the iris
27077	B9D1	HP:0000293	Full cheeks
27077	B9D1	HP:0000276	Long face
27077	B9D1	HP:0000238	Hydrocephalus
27077	B9D1	HP:0000252	Microcephaly
27077	B9D1	HP:0000221	Furrowed tongue
27077	B9D1	HP:0002876	Episodic tachypnea
27077	B9D1	HP:0001562	Oligohydramnios
27077	B9D1	HP:0000202	Orofacial cleft
27077	B9D1	HP:0006487	Bowing of the long bones
27077	B9D1	HP:0001696	Situs inversus totalis
27077	B9D1	HP:0000369	Low-set ears
27077	B9D1	HP:0000368	Low-set, posteriorly rotated ears
27077	B9D1	HP:0000340	Sloping forehead
27077	B9D1	HP:0000347	Micrognathia
27077	B9D1	HP:0000316	Hypertelorism
27077	B9D1	HP:0000325	Triangular face
27077	B9D1	HP:0001737	Pancreatic cysts
27077	B9D1	HP:0000486	Strabismus
27077	B9D1	HP:0000482	Microcornea
27077	B9D1	HP:0000488	Retinopathy
27077	B9D1	HP:0000463	Anteverted nares
27077	B9D1	HP:0000457	Depressed nasal ridge
27077	B9D1	HP:0001746	Asplenia
27077	B9D1	HP:0001747	Accessory spleen
27077	B9D1	HP:0001762	Talipes equinovarus
27077	B9D1	HP:0000426	Prominent nasal bridge
27077	B9D1	HP:0006706	Cystic liver disease
27077	B9D1	HP:0000518	Cataract
27077	B9D1	HP:0000528	Anophthalmia
27077	B9D1	HP:0001829	Foot polydactyly
27077	B9D1	HP:0000508	Ptosis
27077	B9D1	HP:0001830	Postaxial foot polydactyly
27077	B9D1	HP:0000568	Microphthalmia
27077	B9D1	HP:0000532	Abnormal chorioretinal morphology
27077	B9D1	HP:0001883	Talipes
27086	FOXP1	HP:0002463	Language impairment
27086	FOXP1	HP:0002474	Expressive language delay
27086	FOXP1	HP:0007301	Oromotor apraxia
27086	FOXP1	HP:0008589	Hypoplastic helices
27086	FOXP1	HP:0010864	Intellectual disability, severe
27086	FOXP1	HP:0001290	Generalized hypotonia
27086	FOXP1	HP:0001270	Motor delay
27086	FOXP1	HP:0001256	Intellectual disability, mild
27086	FOXP1	HP:0001250	Seizure
27086	FOXP1	HP:0001252	Hypotonia
27086	FOXP1	HP:0001249	Intellectual disability
27086	FOXP1	HP:0001263	Global developmental delay
27086	FOXP1	HP:0001257	Spasticity
27086	FOXP1	HP:0008762	Repetitive compulsive behavior
27086	FOXP1	HP:0410263	Brain imaging abnormality
27086	FOXP1	HP:0001212	Prominent fingertip pads
27086	FOXP1	HP:0000077	Abnormality of the kidney
27086	FOXP1	HP:0001371	Flexion contracture
27086	FOXP1	HP:0008872	Feeding difficulties in infancy
27086	FOXP1	HP:0000006	Autosomal dominant inheritance
27086	FOXP1	HP:0012191	B-cell lymphoma
27086	FOXP1	HP:0000194	Open mouth
27086	FOXP1	HP:0012123	Posterior uveitis
27086	FOXP1	HP:0000119	Abnormality of the genitourinary system
27086	FOXP1	HP:0002788	Recurrent upper respiratory tract infections
27086	FOXP1	HP:0002716	Lymphadenopathy
27086	FOXP1	HP:0002714	Downturned corners of mouth
27086	FOXP1	HP:0002019	Constipation
27086	FOXP1	HP:0002017	Nausea and vomiting
27086	FOXP1	HP:0040303	Decreased serum iron
27086	FOXP1	HP:0002027	Abdominal pain
27086	FOXP1	HP:0002092	Pulmonary arterial hypertension
27086	FOXP1	HP:0002113	Pulmonary infiltrates
27086	FOXP1	HP:0002188	Delayed CNS myelination
27086	FOXP1	HP:0002194	Delayed gross motor development
27086	FOXP1	HP:0011823	Chin with horizontal crease
27086	FOXP1	HP:0003593	Infantile onset
27086	FOXP1	HP:0002236	Frontal upsweep of hair
27086	FOXP1	HP:0100716	Self-injurious behavior
27086	FOXP1	HP:0002205	Recurrent respiratory infections
27086	FOXP1	HP:0100721	Mediastinal lymphadenopathy
27086	FOXP1	HP:0007018	Attention deficit hyperactivity disorder
27086	FOXP1	HP:0011968	Feeding difficulties
27086	FOXP1	HP:0002342	Intellectual disability, moderate
27086	FOXP1	HP:0002353	EEG abnormality
27086	FOXP1	HP:0002307	Drooling
27086	FOXP1	HP:0009088	Speech articulation difficulties
27086	FOXP1	HP:0000639	Nystagmus
27086	FOXP1	HP:0000614	Abnormal nasolacrimal system morphology
27086	FOXP1	HP:0001945	Fever
27086	FOXP1	HP:0001903	Anemia
27086	FOXP1	HP:0000805	Enuresis
27086	FOXP1	HP:0031936	Delayed ability to walk
27086	FOXP1	HP:0000739	Anxiety
27086	FOXP1	HP:0000736	Short attention span
27086	FOXP1	HP:0000732	Inflexible adherence to routines or rituals
27086	FOXP1	HP:0000750	Delayed speech and language development
27086	FOXP1	HP:0000718	Aggressive behavior
27086	FOXP1	HP:0000729	Autistic behavior
27086	FOXP1	HP:0000708	Atypical behavior
27086	FOXP1	HP:0003196	Short nose
27086	FOXP1	HP:0000819	Diabetes mellitus
27086	FOXP1	HP:0000821	Hypothyroidism
27086	FOXP1	HP:0000820	Abnormality of the thyroid gland
27086	FOXP1	HP:0000975	Hyperhidrosis
27086	FOXP1	HP:0000954	Single transverse palmar crease
27086	FOXP1	HP:0000278	Retrognathia
27086	FOXP1	HP:0000256	Macrocephaly
27086	FOXP1	HP:0000272	Malar flattening
27086	FOXP1	HP:0030084	Clinodactyly
27086	FOXP1	HP:0001581	Recurrent skin infections
27086	FOXP1	HP:0025502	Overweight
27086	FOXP1	HP:0001531	Failure to thrive in infancy
27086	FOXP1	HP:0001508	Failure to thrive
27086	FOXP1	HP:0001513	Obesity
27086	FOXP1	HP:0011098	Speech apraxia
27086	FOXP1	HP:0012393	Allergy
27086	FOXP1	HP:0012378	Fatigue
27086	FOXP1	HP:0000316	Hypertelorism
27086	FOXP1	HP:0001627	Abnormal heart morphology
27086	FOXP1	HP:0000303	Mandibular prognathia
27086	FOXP1	HP:0000403	Recurrent otitis media
27086	FOXP1	HP:0005272	Prominent nasolabial fold
27086	FOXP1	HP:0000486	Strabismus
27086	FOXP1	HP:0012471	Thick vermilion border
27086	FOXP1	HP:0000478	Abnormality of the eye
27086	FOXP1	HP:0000494	Downslanted palpebral fissures
27086	FOXP1	HP:0000455	Broad nasal tip
27086	FOXP1	HP:0011298	Prominent digit pad
27086	FOXP1	HP:0001824	Weight loss
27086	FOXP1	HP:0000508	Ptosis
27086	FOXP1	HP:0000505	Visual impairment
27086	FOXP1	HP:0000598	Abnormality of the ear
27086	FOXP1	HP:0000581	Blepharophimosis
27086	FOXP1	HP:0011220	Prominent forehead
27086	FOXP1	HP:0000539	Abnormality of refraction
27089	UQCRQ	HP:0010864	Intellectual disability, severe
27089	UQCRQ	HP:0001290	Generalized hypotonia
27089	UQCRQ	HP:0001252	Hypotonia
27089	UQCRQ	HP:0001251	Ataxia
27089	UQCRQ	HP:0001249	Intellectual disability
27089	UQCRQ	HP:0001263	Global developmental delay
27089	UQCRQ	HP:0002540	Inability to walk
27089	UQCRQ	HP:0001347	Hyperreflexia
27089	UQCRQ	HP:0001332	Dystonia
27089	UQCRQ	HP:0001344	Absent speech
27089	UQCRQ	HP:0000007	Autosomal recessive inheritance
27089	UQCRQ	HP:0002071	Abnormality of extrapyramidal motor function
27089	UQCRQ	HP:0002151	Increased serum lactate
27089	UQCRQ	HP:0002305	Athetosis
27102	EIF2AK1	HP:0001252	Hypotonia
27102	EIF2AK1	HP:0001260	Dysarthria
27102	EIF2AK1	HP:0025352	Typically de novo
27102	EIF2AK1	HP:0000012	Urinary urgency
27102	EIF2AK1	HP:0000006	Autosomal dominant inheritance
27102	EIF2AK1	HP:0002067	Bradykinesia
27102	EIF2AK1	HP:0002061	Lower limb spasticity
27102	EIF2AK1	HP:0003593	Infantile onset
27102	EIF2AK1	HP:0007018	Attention deficit hyperactivity disorder
27102	EIF2AK1	HP:0031936	Delayed ability to walk
27102	EIF2AK1	HP:0000739	Anxiety
27102	EIF2AK1	HP:0000750	Delayed speech and language development
27107	ZBTB11	HP:0001252	Hypotonia
27107	ZBTB11	HP:0001251	Ataxia
27107	ZBTB11	HP:0001260	Dysarthria
27107	ZBTB11	HP:0001263	Global developmental delay
27107	ZBTB11	HP:0001257	Spasticity
27107	ZBTB11	HP:0000007	Autosomal recessive inheritance
27107	ZBTB11	HP:0001321	Cerebellar hypoplasia
27107	ZBTB11	HP:0002119	Ventriculomegaly
27107	ZBTB11	HP:0430028	Hyperplasia of the maxilla
27107	ZBTB11	HP:0002342	Intellectual disability, moderate
27107	ZBTB11	HP:0002307	Drooling
27107	ZBTB11	HP:0031936	Delayed ability to walk
27107	ZBTB11	HP:0000750	Delayed speech and language development
27107	ZBTB11	HP:0000297	Facial hypotonia
27107	ZBTB11	HP:0000252	Microcephaly
27125	AFF4	HP:0001156	Brachydactyly
27125	AFF4	HP:0009937	Facial hirsutism
27125	AFF4	HP:0009894	Thickened ears
27125	AFF4	HP:0001249	Intellectual disability
27125	AFF4	HP:0002578	Gastroparesis
27125	AFF4	HP:0001263	Global developmental delay
27125	AFF4	HP:0001231	Abnormal fingernail morphology
27125	AFF4	HP:0100874	Thick hair
27125	AFF4	HP:0002553	Highly arched eyebrow
27125	AFF4	HP:0000085	Horseshoe kidney
27125	AFF4	HP:0000076	Vesicoureteral reflux
27125	AFF4	HP:0000047	Hypospadias
27125	AFF4	HP:0025313	Exophoria
27125	AFF4	HP:0001357	Plagiocephaly
27125	AFF4	HP:0000028	Cryptorchidism
27125	AFF4	HP:0000006	Autosomal dominant inheritance
27125	AFF4	HP:0002645	Wormian bones
27125	AFF4	HP:0002616	Aortic root aneurysm
27125	AFF4	HP:0000162	Glossoptosis
27125	AFF4	HP:0000158	Macroglossia
27125	AFF4	HP:0002705	High, narrow palate
27125	AFF4	HP:0002779	Tracheomalacia
27125	AFF4	HP:0002714	Downturned corners of mouth
27125	AFF4	HP:0002020	Gastroesophageal reflux
27125	AFF4	HP:0002019	Constipation
27125	AFF4	HP:0002086	Abnormality of the respiratory system
27125	AFF4	HP:0002099	Asthma
27125	AFF4	HP:0002092	Pulmonary arterial hypertension
27125	AFF4	HP:0004602	Cervical C2/C3 vertebral fusion
27125	AFF4	HP:0003468	Abnormal vertebral morphology
27125	AFF4	HP:0010535	Sleep apnea
27125	AFF4	HP:0011842	Abnormal skeletal morphology
27125	AFF4	HP:0003577	Congenital onset
27125	AFF4	HP:0002212	Curly hair
27125	AFF4	HP:0002208	Coarse hair
27125	AFF4	HP:0011951	Aspiration pneumonia
27125	AFF4	HP:0008388	Abnormal toenail morphology
27125	AFF4	HP:0200055	Small hand
27125	AFF4	HP:0010772	Anomalous pulmonary venous return
27125	AFF4	HP:0000646	Amblyopia
27125	AFF4	HP:0000648	Optic atrophy
27125	AFF4	HP:0000664	Synophrys
27125	AFF4	HP:0004322	Short stature
27125	AFF4	HP:0003074	Hyperglycemia
27125	AFF4	HP:0003038	Fibular hypoplasia
27125	AFF4	HP:0000771	Gynecomastia
27125	AFF4	HP:0011471	Gastrostomy tube feeding in infancy
27125	AFF4	HP:0003196	Short nose
27125	AFF4	HP:0000821	Hypothyroidism
27125	AFF4	HP:0000824	Decreased response to growth hormone stimulation test
27125	AFF4	HP:0000956	Acanthosis nigricans
27125	AFF4	HP:0000280	Coarse facial features
27125	AFF4	HP:0000293	Full cheeks
27125	AFF4	HP:0006434	Hypoplasia of proximal radius
27125	AFF4	HP:0000252	Microcephaly
27125	AFF4	HP:0000219	Thin upper lip vermilion
27125	AFF4	HP:0000218	High palate
27125	AFF4	HP:0030043	Hip subluxation
27125	AFF4	HP:0001513	Obesity
27125	AFF4	HP:0000378	Cupped ear
27125	AFF4	HP:0000391	Thickened helices
27125	AFF4	HP:0006528	Chronic lung disease
27125	AFF4	HP:0001607	Subglottic stenosis
27125	AFF4	HP:0001601	Laryngomalacia
27125	AFF4	HP:0000365	Hearing impairment
27125	AFF4	HP:0000368	Low-set, posteriorly rotated ears
27125	AFF4	HP:0000341	Narrow forehead
27125	AFF4	HP:0000343	Long philtrum
27125	AFF4	HP:0000347	Micrognathia
27125	AFF4	HP:0000316	Hypertelorism
27125	AFF4	HP:0001643	Patent ductus arteriosus
27125	AFF4	HP:0000311	Round face
27125	AFF4	HP:0001655	Patent foramen ovale
27125	AFF4	HP:0001629	Ventricular septal defect
27125	AFF4	HP:0001627	Abnormal heart morphology
27125	AFF4	HP:0001635	Congestive heart failure
27125	AFF4	HP:0000407	Sensorineural hearing impairment
27125	AFF4	HP:0000405	Conductive hearing impairment
27125	AFF4	HP:0000486	Strabismus
27125	AFF4	HP:0000494	Downslanted palpebral fissures
27125	AFF4	HP:0000463	Anteverted nares
27125	AFF4	HP:0000410	Mixed hearing impairment
27125	AFF4	HP:0001744	Splenomegaly
27125	AFF4	HP:0000518	Cataract
27125	AFF4	HP:0000527	Long eyelashes
27125	AFF4	HP:0000520	Proptosis
27125	AFF4	HP:0000508	Ptosis
27125	AFF4	HP:0001800	Hypoplastic toenails
27125	AFF4	HP:0011221	Vertical forehead creases
27125	AFF4	HP:0000574	Thick eyebrow
27125	AFF4	HP:0000545	Myopia
27130	INVS	HP:0003774	Stage 5 chronic kidney disease
27130	INVS	HP:0001251	Ataxia
27130	INVS	HP:0001263	Global developmental delay
27130	INVS	HP:0000090	Nephronophthisis
27130	INVS	HP:0000007	Autosomal recessive inheritance
27130	INVS	HP:0002612	Congenital hepatic fibrosis
27130	INVS	HP:0000105	Enlarged kidney
27130	INVS	HP:0005976	Hyperkalemic metabolic acidosis
27130	INVS	HP:0002089	Pulmonary hypoplasia
27130	INVS	HP:0002093	Respiratory insufficiency
27130	INVS	HP:0010444	Pulmonary insufficiency
27130	INVS	HP:0002153	Hyperkalemia
27130	INVS	HP:0004743	Chronic tubulointerstitial nephritis
27130	INVS	HP:0004734	Renal cortical microcysts
27130	INVS	HP:0008209	Premature ovarian insufficiency
27130	INVS	HP:0004719	Hyperechogenic kidneys
27130	INVS	HP:0010579	Cone-shaped epiphysis
27130	INVS	HP:0005564	Absence of renal corticomedullary differentiation
27130	INVS	HP:0012622	Chronic kidney disease
27130	INVS	HP:0004322	Short stature
27130	INVS	HP:0004348	Abnormality of bone mineral density
27130	INVS	HP:0000822	Hypertension
27130	INVS	HP:0003259	Elevated circulating creatinine concentration
27130	INVS	HP:0007703	Abnormality of retinal pigmentation
27130	INVS	HP:0002878	Respiratory failure
27130	INVS	HP:0001562	Oligohydramnios
27130	INVS	HP:0001696	Situs inversus totalis
27130	INVS	HP:0000518	Cataract
27130	INVS	HP:0000529	Progressive visual loss
27130	INVS	HP:0000505	Visual impairment
27130	INVS	HP:0000556	Retinal dystrophy
27148	STK36	HP:0025177	Peribronchovascular interstitial thickening
27148	STK36	HP:0002566	Intestinal malrotation
27148	STK36	HP:0001217	Clubbing
27148	STK36	HP:0032341	Reduced forced vital capacity
27148	STK36	HP:0032342	Reduced forced expiratory volume in one second
27148	STK36	HP:0000007	Autosomal recessive inheritance
27148	STK36	HP:0002643	Neonatal respiratory distress
27148	STK36	HP:0000119	Abnormality of the genitourinary system
27148	STK36	HP:0032543	Lithoptysis
27148	STK36	HP:0031245	Productive cough
27148	STK36	HP:0002011	Morphological central nervous system abnormality
27148	STK36	HP:0100582	Nasal polyposis
27148	STK36	HP:0002119	Ventriculomegaly
27148	STK36	HP:0002110	Bronchiectasis
27148	STK36	HP:0008222	Female infertility
27148	STK36	HP:0002257	Chronic rhinitis
27148	STK36	HP:0100750	Atelectasis
27148	STK36	HP:0032016	Abnormal sputum
27148	STK36	HP:0011947	Respiratory tract infection
27148	STK36	HP:0010772	Anomalous pulmonary venous return
27148	STK36	HP:0030680	Abnormality of cardiovascular system morphology
27148	STK36	HP:0000750	Delayed speech and language development
27148	STK36	HP:0000924	Abnormality of the skeletal system
27148	STK36	HP:0011539	Atrial situs ambiguous
27148	STK36	HP:0011535	Abnormal atrial arrangement
27148	STK36	HP:0030828	Wheezing
27148	STK36	HP:0003251	Male infertility
27148	STK36	HP:0011617	Pulmonary situs ambiguus
27148	STK36	HP:0025576	Abnormal inferior vena cava morphology
27148	STK36	HP:0012265	Ciliary dyskinesia
27148	STK36	HP:0000238	Hydrocephalus
27148	STK36	HP:0012206	Abnormal sperm motility
27148	STK36	HP:0012207	Reduced sperm motility
27148	STK36	HP:0002878	Respiratory failure
27148	STK36	HP:0000389	Chronic otitis media
27148	STK36	HP:0006532	Recurrent pneumonia
27148	STK36	HP:0006536	Airway obstruction
27148	STK36	HP:0001696	Situs inversus totalis
27148	STK36	HP:0000365	Hearing impairment
27148	STK36	HP:0001669	Transposition of the great arteries
27148	STK36	HP:0031456	Ectopic pregnancy
27148	STK36	HP:0001627	Abnormal heart morphology
27148	STK36	HP:0005301	Persistent left superior vena cava
27148	STK36	HP:0000403	Recurrent otitis media
27148	STK36	HP:0000405	Conductive hearing impairment
27148	STK36	HP:0001719	Double outlet right ventricle
27148	STK36	HP:0011109	Chronic sinusitis
27148	STK36	HP:0011108	Recurrent sinusitis
27148	STK36	HP:0001746	Asplenia
27148	STK36	HP:0001748	Polysplenia
27148	STK36	HP:0001742	Nasal congestion
27148	STK36	HP:0005425	Recurrent sinopulmonary infections
27148	STK36	HP:0011274	Recurrent mycobacterial infections
27148	STK36	HP:0000510	Rod-cone dystrophy
27151	CPAMD8	HP:0009917	Persistent pupillary membrane
27151	CPAMD8	HP:0009918	Ectopia pupillae
27151	CPAMD8	HP:0025358	Uveal ectropion
27151	CPAMD8	HP:0000007	Autosomal recessive inheritance
27151	CPAMD8	HP:0007676	Hypoplasia of the iris
27151	CPAMD8	HP:0001093	Optic nerve dysplasia
27151	CPAMD8	HP:0001083	Ectopia lentis
27151	CPAMD8	HP:0100693	Iridodonesis
27151	CPAMD8	HP:0012805	Iris transillumination defect
27151	CPAMD8	HP:0012376	Microphakia
27151	CPAMD8	HP:0007957	Corneal opacity
27151	CPAMD8	HP:0000518	Cataract
27152	INTU	HP:0001153	Septate vagina
27152	INTU	HP:0009944	Partial duplication of thumb phalanx
27152	INTU	HP:0008551	Microtia
27152	INTU	HP:0003762	Uterus didelphys
27152	INTU	HP:0100818	Long thorax
27152	INTU	HP:0008749	Laryngeal hypoplasia
27152	INTU	HP:0003811	Neonatal death
27152	INTU	HP:0000089	Renal hypoplasia
27152	INTU	HP:0000054	Micropenis
27152	INTU	HP:0006145	Central Y-shaped metacarpal
27152	INTU	HP:0000007	Autosomal recessive inheritance
27152	INTU	HP:0000161	Median cleft lip
27152	INTU	HP:0000175	Cleft palate
27152	INTU	HP:0410030	Cleft lip
27152	INTU	HP:0002705	High, narrow palate
27152	INTU	HP:0002023	Anal atresia
27152	INTU	HP:0002007	Frontal bossing
27152	INTU	HP:0011802	Hamartoma of tongue
27152	INTU	HP:0002089	Pulmonary hypoplasia
27152	INTU	HP:0003375	Narrow greater sciatic notch
27152	INTU	HP:0010442	Polydactyly
27152	INTU	HP:0002119	Ventriculomegaly
27152	INTU	HP:0003429	CNS hypomyelination
27152	INTU	HP:0002162	Low posterior hairline
27152	INTU	HP:0009577	Short middle phalanx of the 2nd finger
27152	INTU	HP:0100759	Clubbing of fingers
27152	INTU	HP:0100628	Esophageal diverticulum
27152	INTU	HP:0000695	Natal tooth
27152	INTU	HP:0004325	Decreased body weight
27152	INTU	HP:0004322	Short stature
27152	INTU	HP:0003038	Fibular hypoplasia
27152	INTU	HP:0003026	Short long bone
27152	INTU	HP:0000750	Delayed speech and language development
27152	INTU	HP:0011467	Absent gallbladder
27152	INTU	HP:0000774	Narrow chest
27152	INTU	HP:0000773	Short ribs
27152	INTU	HP:0005736	Short tibia
27152	INTU	HP:0003173	Hypoplastic pubic bone
27152	INTU	HP:0003186	Inverted nipples
27152	INTU	HP:0004491	Large posterior fontanelle
27152	INTU	HP:0000888	Horizontal ribs
27152	INTU	HP:0000895	Lateral clavicle hook
27152	INTU	HP:0100259	Postaxial polydactyly
27152	INTU	HP:0100258	Preaxial polydactyly
27152	INTU	HP:0000278	Retrognathia
27152	INTU	HP:0000260	Wide anterior fontanel
27152	INTU	HP:0030084	Clinodactyly
27152	INTU	HP:0000248	Brachycephaly
27152	INTU	HP:0000377	Abnormal pinna morphology
27152	INTU	HP:0000365	Hearing impairment
27152	INTU	HP:0000369	Low-set ears
27152	INTU	HP:0001674	Complete atrioventricular canal defect
27152	INTU	HP:0000347	Micrognathia
27152	INTU	HP:0000316	Hypertelorism
27152	INTU	HP:0001636	Tetralogy of Fallot
27152	INTU	HP:0006610	Wide intermamillary distance
27152	INTU	HP:0005285	Absent nasal bridge
27152	INTU	HP:0005280	Depressed nasal bridge
27152	INTU	HP:0000470	Short neck
27152	INTU	HP:0000448	Prominent nose
27152	INTU	HP:0005474	Decreased calvarial ossification
27152	INTU	HP:0005487	Prominent metopic ridge
27152	INTU	HP:0000568	Microphthalmia
27161	AGO2	HP:0008589	Hypoplastic helices
27161	AGO2	HP:0010863	Receptive language delay
27161	AGO2	HP:0001270	Motor delay
27161	AGO2	HP:0001250	Seizure
27161	AGO2	HP:0001252	Hypotonia
27161	AGO2	HP:0001249	Intellectual disability
27161	AGO2	HP:0001357	Plagiocephaly
27161	AGO2	HP:0000006	Autosomal dominant inheritance
27161	AGO2	HP:0000194	Open mouth
27161	AGO2	HP:0002793	Abnormal pattern of respiration
27161	AGO2	HP:0002020	Gastroesophageal reflux
27161	AGO2	HP:0002007	Frontal bossing
27161	AGO2	HP:0010537	Wide cranial sutures
27161	AGO2	HP:0003593	Infantile onset
27161	AGO2	HP:0007018	Attention deficit hyperactivity disorder
27161	AGO2	HP:0011968	Feeding difficulties
27161	AGO2	HP:0004209	Clinodactyly of the 5th finger
27161	AGO2	HP:0000689	Dental malocclusion
27161	AGO2	HP:0000750	Delayed speech and language development
27161	AGO2	HP:0000718	Aggressive behavior
27161	AGO2	HP:0000729	Autistic behavior
27161	AGO2	HP:0030799	Scaphocephaly
27161	AGO2	HP:0000286	Epicanthus
27161	AGO2	HP:0000219	Thin upper lip vermilion
27161	AGO2	HP:0000396	Overfolded helix
27161	AGO2	HP:0000365	Hearing impairment
27161	AGO2	HP:0001647	Bicuspid aortic valve
27161	AGO2	HP:0001643	Patent ductus arteriosus
27161	AGO2	HP:0001642	Pulmonic stenosis
27161	AGO2	HP:0001655	Patent foramen ovale
27161	AGO2	HP:0001631	Atrial septal defect
27161	AGO2	HP:0000486	Strabismus
27161	AGO2	HP:0000490	Deeply set eye
27161	AGO2	HP:0000431	Wide nasal bridge
27161	AGO2	HP:0000505	Visual impairment
27161	AGO2	HP:0000582	Upslanted palpebral fissure
27178	IL37	HP:0001270	Motor delay
27178	IL37	HP:0000007	Autosomal recessive inheritance
27178	IL37	HP:0003593	Infantile onset
27178	IL37	HP:0003565	Elevated erythrocyte sedimentation rate
27178	IL37	HP:0025085	Bloody diarrhea
27178	IL37	HP:0001974	Leukocytosis
27178	IL37	HP:0001903	Anemia
27178	IL37	HP:0100279	Ulcerative colitis
27178	IL37	HP:0011227	Elevated circulating C-reactive protein concentration
27183	VPS4A	HP:0010864	Intellectual disability, severe
27183	VPS4A	HP:0001270	Motor delay
27183	VPS4A	HP:0001250	Seizure
27183	VPS4A	HP:0001252	Hypotonia
27183	VPS4A	HP:0001251	Ataxia
27183	VPS4A	HP:0001257	Spasticity
27183	VPS4A	HP:0001332	Dystonia
27183	VPS4A	HP:0033725	Thin corpus callosum
27183	VPS4A	HP:0001344	Absent speech
27183	VPS4A	HP:0000006	Autosomal dominant inheritance
27183	VPS4A	HP:0001320	Cerebellar vermis hypoplasia
27183	VPS4A	HP:0001321	Cerebellar hypoplasia
27183	VPS4A	HP:0000135	Hypogonadism
27183	VPS4A	HP:0025405	Visual fixation instability
27183	VPS4A	HP:0001414	Microvesicular hepatic steatosis
27183	VPS4A	HP:0002719	Recurrent infections
27183	VPS4A	HP:0002072	Chorea
27183	VPS4A	HP:0002059	Cerebral atrophy
27183	VPS4A	HP:0002126	Polymicrogyria
27183	VPS4A	HP:0002240	Hepatomegaly
27183	VPS4A	HP:0011968	Feeding difficulties
27183	VPS4A	HP:0002360	Sleep disturbance
27183	VPS4A	HP:0100613	Death in early adulthood
27183	VPS4A	HP:0001081	Cholelithiasis
27183	VPS4A	HP:0006879	Pontocerebellar atrophy
27183	VPS4A	HP:0011344	Severe global developmental delay
27183	VPS4A	HP:0000750	Delayed speech and language development
27183	VPS4A	HP:0011451	Primary microcephaly
27183	VPS4A	HP:0009125	Lipodystrophy
27183	VPS4A	HP:0030854	Scleral staphyloma
27183	VPS4A	HP:0000252	Microcephaly
27183	VPS4A	HP:0000407	Sensorineural hearing impairment
27183	VPS4A	HP:0000519	Developmental cataract
27183	VPS4A	HP:0000505	Visual impairment
27183	VPS4A	HP:0000556	Retinal dystrophy
27184	DISC2	HP:0410291	Negativism
27184	DISC2	HP:0000006	Autosomal dominant inheritance
27184	DISC2	HP:0100753	Schizophrenia
27184	DISC2	HP:0007086	Social and occupational deterioration
27184	DISC2	HP:0002353	EEG abnormality
27184	DISC2	HP:0000738	Hallucinations
27184	DISC2	HP:0000746	Delusions
27185	DISC1	HP:0001274	Agenesis of corpus callosum
27185	DISC1	HP:0001321	Cerebellar hypoplasia
27185	DISC1	HP:0002719	Recurrent infections
27185	DISC1	HP:0002098	Respiratory distress
27185	DISC1	HP:0002119	Ventriculomegaly
27185	DISC1	HP:0002126	Polymicrogyria
27185	DISC1	HP:0011451	Primary microcephaly
27229	TUBGCP4	HP:0001276	Hypertonia
27229	TUBGCP4	HP:0001250	Seizure
27229	TUBGCP4	HP:0001249	Intellectual disability
27229	TUBGCP4	HP:0001263	Global developmental delay
27229	TUBGCP4	HP:0007360	Aplasia/Hypoplasia of the cerebellum
27229	TUBGCP4	HP:0000007	Autosomal recessive inheritance
27229	TUBGCP4	HP:0002650	Scoliosis
27229	TUBGCP4	HP:0007663	Reduced visual acuity
27229	TUBGCP4	HP:0002120	Cerebral cortical atrophy
27229	TUBGCP4	HP:0002269	Abnormality of neuronal migration
27229	TUBGCP4	HP:0003577	Congenital onset
27229	TUBGCP4	HP:0000639	Nystagmus
27229	TUBGCP4	HP:0000648	Optic atrophy
27229	TUBGCP4	HP:0001999	Abnormal facial shape
27229	TUBGCP4	HP:0004322	Short stature
27229	TUBGCP4	HP:0004422	Biparietal narrowing
27229	TUBGCP4	HP:0007703	Abnormality of retinal pigmentation
27229	TUBGCP4	HP:0007731	Chorioretinal dysplasia
27229	TUBGCP4	HP:0000252	Microcephaly
27229	TUBGCP4	HP:0001511	Intrauterine growth retardation
27229	TUBGCP4	HP:0000340	Sloping forehead
27229	TUBGCP4	HP:0000307	Pointed chin
27229	TUBGCP4	HP:0000499	Abnormal eyelash morphology
27229	TUBGCP4	HP:0000486	Strabismus
27229	TUBGCP4	HP:0000463	Anteverted nares
27229	TUBGCP4	HP:0000411	Protruding ear
27229	TUBGCP4	HP:0000431	Wide nasal bridge
27229	TUBGCP4	HP:0000505	Visual impairment
27229	TUBGCP4	HP:0000568	Microphthalmia
27232	GNMT	HP:0000007	Autosomal recessive inheritance
27232	GNMT	HP:0002240	Hepatomegaly
27232	GNMT	HP:0003235	Hypermethioninemia
27232	GNMT	HP:0002910	Elevated hepatic transaminase
27235	COQ2	HP:0002494	Abnormal rapid eye movement sleep
27235	COQ2	HP:0008652	Autonomic erectile dysfunction
27235	COQ2	HP:0007256	Abnormal pyramidal sign
27235	COQ2	HP:0003745	Sporadic
27235	COQ2	HP:0001298	Encephalopathy
27235	COQ2	HP:0001278	Orthostatic hypotension
27235	COQ2	HP:0001272	Cerebellar atrophy
27235	COQ2	HP:0001270	Motor delay
27235	COQ2	HP:0001250	Seizure
27235	COQ2	HP:0001252	Hypotonia
27235	COQ2	HP:0001251	Ataxia
27235	COQ2	HP:0001249	Intellectual disability
27235	COQ2	HP:0001260	Dysarthria
27235	COQ2	HP:0001263	Global developmental delay
27235	COQ2	HP:0002572	Episodic vomiting
27235	COQ2	HP:0007430	Generalized edema
27235	COQ2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
27235	COQ2	HP:0002542	Olivopontocerebellar atrophy
27235	COQ2	HP:0002530	Axial dystonia
27235	COQ2	HP:0002506	Diffuse cerebral atrophy
27235	COQ2	HP:0002505	Loss of ambulation
27235	COQ2	HP:0000097	Focal segmental glomerulosclerosis
27235	COQ2	HP:0000096	Glomerular sclerosis
27235	COQ2	HP:0000093	Proteinuria
27235	COQ2	HP:0001399	Hepatic failure
27235	COQ2	HP:0000020	Urinary incontinence
27235	COQ2	HP:0001347	Hyperreflexia
27235	COQ2	HP:0001328	Specific learning disability
27235	COQ2	HP:0000012	Urinary urgency
27235	COQ2	HP:0000007	Autosomal recessive inheritance
27235	COQ2	HP:0001337	Tremor
27235	COQ2	HP:0000006	Autosomal dominant inheritance
27235	COQ2	HP:0001336	Myoclonus
27235	COQ2	HP:0001300	Parkinsonism
27235	COQ2	HP:0008947	Infantile muscular hypotonia
27235	COQ2	HP:0000100	Nephrotic syndrome
27235	COQ2	HP:0000107	Renal cyst
27235	COQ2	HP:0002019	Constipation
27235	COQ2	HP:0002015	Dysphagia
27235	COQ2	HP:0003323	Progressive muscle weakness
27235	COQ2	HP:0100543	Cognitive impairment
27235	COQ2	HP:0002067	Bradykinesia
27235	COQ2	HP:0002068	Neuromuscular dysphagia
27235	COQ2	HP:0002066	Gait ataxia
27235	COQ2	HP:0002063	Rigidity
27235	COQ2	HP:0002073	Progressive cerebellar ataxia
27235	COQ2	HP:0002070	Limb ataxia
27235	COQ2	HP:0100595	Camptocormia
27235	COQ2	HP:0040293	Right hemiplegia
27235	COQ2	HP:0003487	Babinski sign
27235	COQ2	HP:0002151	Increased serum lactate
27235	COQ2	HP:0002136	Broad-based gait
27235	COQ2	HP:0002133	Status epilepticus
27235	COQ2	HP:0002180	Neurodegeneration
27235	COQ2	HP:0002168	Scanning speech
27235	COQ2	HP:0002174	Postural tremor
27235	COQ2	HP:0002172	Postural instability
27235	COQ2	HP:0010545	Downbeat nystagmus
27235	COQ2	HP:0010536	Central sleep apnea
27235	COQ2	HP:0003593	Infantile onset
27235	COQ2	HP:0100704	Cerebral visual impairment
27235	COQ2	HP:0003581	Adult onset
27235	COQ2	HP:0011968	Feeding difficulties
27235	COQ2	HP:0002359	Frequent falls
27235	COQ2	HP:0002376	Developmental regression
27235	COQ2	HP:0003676	Progressive
27235	COQ2	HP:0002322	Resting tremor
27235	COQ2	HP:0003652	Recurrent myoglobinuria
27235	COQ2	HP:0001089	Iris atrophy
27235	COQ2	HP:0002310	Orofacial dyskinesia
27235	COQ2	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
27235	COQ2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
27235	COQ2	HP:0004900	Severe lactic acidosis
27235	COQ2	HP:0000640	Gaze-evoked nystagmus
27235	COQ2	HP:0001970	Tubulointerstitial nephritis
27235	COQ2	HP:0000639	Nystagmus
27235	COQ2	HP:0001947	Renal tubular acidosis
27235	COQ2	HP:0001903	Anemia
27235	COQ2	HP:0012670	Orthostatic syncope
27235	COQ2	HP:0012658	Abnormal brain FDG positron emission tomography
27235	COQ2	HP:0003073	Hypoalbuminemia
27235	COQ2	HP:0000802	Impotence
27235	COQ2	HP:0000739	Anxiety
27235	COQ2	HP:0000741	Apathy
27235	COQ2	HP:0000716	Depression
27235	COQ2	HP:0011471	Gastrostomy tube feeding in infancy
27235	COQ2	HP:0003128	Lactic acidosis
27235	COQ2	HP:0000815	Hypergonadotropic hypogonadism
27235	COQ2	HP:0003236	Elevated circulating creatine kinase concentration
27235	COQ2	HP:0030880	Raynaud phenomenon
27235	COQ2	HP:0003202	Skeletal muscle atrophy
27235	COQ2	HP:0003200	Ragged-red muscle fibers
27235	COQ2	HP:0010307	Stridor
27235	COQ2	HP:0000970	Anhidrosis
27235	COQ2	HP:0000966	Hypohidrosis
27235	COQ2	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle
27235	COQ2	HP:0001562	Oligohydramnios
27235	COQ2	HP:0030015	Female anorgasmia
27235	COQ2	HP:0001511	Intrauterine growth retardation
27235	COQ2	HP:0012378	Fatigue
27235	COQ2	HP:0001618	Dysphonia
27235	COQ2	HP:0012332	Abnormal autonomic nervous system physiology
27235	COQ2	HP:0001640	Cardiomegaly
27235	COQ2	HP:0001639	Hypertrophic cardiomyopathy
27235	COQ2	HP:0007965	Undetectable visual evoked potentials
27235	COQ2	HP:0011193	EEG with focal spikes
27235	COQ2	HP:0005341	Autonomic bladder dysfunction
27235	COQ2	HP:0000407	Sensorineural hearing impairment
27235	COQ2	HP:0000510	Rod-cone dystrophy
27235	COQ2	HP:0000508	Ptosis
27235	COQ2	HP:0012597	Heavy proteinuria
27235	COQ2	HP:0000572	Visual loss
27235	COQ2	HP:0001876	Pancytopenia
27238	GPKOW	HP:0001181	Adducted thumb
27238	GPKOW	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
27238	GPKOW	HP:0007360	Aplasia/Hypoplasia of the cerebellum
27238	GPKOW	HP:0008678	Renal hypoplasia/aplasia
27238	GPKOW	HP:0001376	Limitation of joint mobility
27238	GPKOW	HP:0001360	Holoprosencephaly
27238	GPKOW	HP:0007477	Abnormal dermatoglyphics
27238	GPKOW	HP:0002120	Cerebral cortical atrophy
27238	GPKOW	HP:0002103	Abnormal pleura morphology
27238	GPKOW	HP:0100490	Camptodactyly of finger
27238	GPKOW	HP:0010662	Abnormality of the diencephalon
27238	GPKOW	HP:0002324	Hydranencephaly
27238	GPKOW	HP:0100625	Enlarged thorax
27238	GPKOW	HP:0002828	Multiple joint contractures
27238	GPKOW	HP:0000252	Microcephaly
27238	GPKOW	HP:0001558	Decreased fetal movement
27238	GPKOW	HP:0001511	Intrauterine growth retardation
27238	GPKOW	HP:0000369	Low-set ears
27238	GPKOW	HP:0000340	Sloping forehead
27238	GPKOW	HP:0000347	Micrognathia
27238	GPKOW	HP:0000490	Deeply set eye
27238	GPKOW	HP:0000470	Short neck
27238	GPKOW	HP:0006703	Aplasia/Hypoplasia of the lungs
27238	GPKOW	HP:0000581	Blepharophimosis
27241	BBS9	HP:0001156	Brachydactyly
27241	BBS9	HP:0001162	Postaxial hand polydactyly
27241	BBS9	HP:0001159	Syndactyly
27241	BBS9	HP:0001249	Intellectual disability
27241	BBS9	HP:0002591	Polyphagia
27241	BBS9	HP:0001263	Global developmental delay
27241	BBS9	HP:0006101	Finger syndactyly
27241	BBS9	HP:0008736	Hypoplasia of penis
27241	BBS9	HP:0008724	Hypoplasia of the ovary
27241	BBS9	HP:0000083	Renal insufficiency
27241	BBS9	HP:0001395	Hepatic fibrosis
27241	BBS9	HP:0000028	Cryptorchidism
27241	BBS9	HP:0000007	Autosomal recessive inheritance
27241	BBS9	HP:0000003	Multicystic kidney dysplasia
27241	BBS9	HP:0000135	Hypogonadism
27241	BBS9	HP:0000100	Nephrotic syndrome
27241	BBS9	HP:0010442	Polydactyly
27241	BBS9	HP:0002167	Abnormality of speech or vocalization
27241	BBS9	HP:0003577	Congenital onset
27241	BBS9	HP:0002230	Generalized hirsutism
27241	BBS9	HP:0010747	Medial flaring of the eyebrow
27241	BBS9	HP:0000639	Nystagmus
27241	BBS9	HP:0001959	Polydipsia
27241	BBS9	HP:0001956	Truncal obesity
27241	BBS9	HP:0004322	Short stature
27241	BBS9	HP:0003074	Hyperglycemia
27241	BBS9	HP:0000750	Delayed speech and language development
27241	BBS9	HP:0000858	Irregular menstruation
27241	BBS9	HP:0000822	Hypertension
27241	BBS9	HP:0003202	Skeletal muscle atrophy
27241	BBS9	HP:0100259	Postaxial polydactyly
27241	BBS9	HP:0007737	Bone spicule pigmentation of the retina
27241	BBS9	HP:0001513	Obesity
27241	BBS9	HP:0007843	Attenuation of retinal blood vessels
27241	BBS9	HP:0000365	Hearing impairment
27241	BBS9	HP:0000368	Low-set, posteriorly rotated ears
27241	BBS9	HP:0000483	Astigmatism
27241	BBS9	HP:0000486	Strabismus
27241	BBS9	HP:0000494	Downslanted palpebral fissures
27241	BBS9	HP:0000470	Short neck
27241	BBS9	HP:0000426	Prominent nasal bridge
27241	BBS9	HP:0000518	Cataract
27241	BBS9	HP:0000510	Rod-cone dystrophy
27241	BBS9	HP:0000512	Abnormal electroretinogram
27241	BBS9	HP:0001830	Postaxial foot polydactyly
27241	BBS9	HP:0000580	Pigmentary retinopathy
27241	BBS9	HP:0000546	Retinal degeneration
27245	AHDC1	HP:0002474	Expressive language delay
27245	AHDC1	HP:0009909	Uplifted earlobe
27245	AHDC1	HP:0009879	Simplified gyral pattern
27245	AHDC1	HP:0025267	Snoring
27245	AHDC1	HP:0001273	Abnormal corpus callosum morphology
27245	AHDC1	HP:0001270	Motor delay
27245	AHDC1	HP:0001250	Seizure
27245	AHDC1	HP:0001252	Hypotonia
27245	AHDC1	HP:0001251	Ataxia
27245	AHDC1	HP:0001249	Intellectual disability
27245	AHDC1	HP:0001263	Global developmental delay
27245	AHDC1	HP:0025336	Delayed ability to sit
27245	AHDC1	HP:0001388	Joint laxity
27245	AHDC1	HP:0001363	Craniosynostosis
27245	AHDC1	HP:0000006	Autosomal dominant inheritance
27245	AHDC1	HP:0002650	Scoliosis
27245	AHDC1	HP:0002781	Upper airway obstruction
27245	AHDC1	HP:0002779	Tracheomalacia
27245	AHDC1	HP:0002079	Hypoplasia of the corpus callosum
27245	AHDC1	HP:0002188	Delayed CNS myelination
27245	AHDC1	HP:0003577	Congenital onset
27245	AHDC1	HP:0100704	Cerebral visual impairment
27245	AHDC1	HP:0004887	Respiratory failure requiring assisted ventilation
27245	AHDC1	HP:0011968	Feeding difficulties
27245	AHDC1	HP:0002353	EEG abnormality
27245	AHDC1	HP:0001999	Abnormal facial shape
27245	AHDC1	HP:0006951	Retrocerebellar cyst
27245	AHDC1	HP:0031936	Delayed ability to walk
27245	AHDC1	HP:0000750	Delayed speech and language development
27245	AHDC1	HP:0000717	Autism
27245	AHDC1	HP:0011477	Upbeat nystagmus
27245	AHDC1	HP:0000925	Abnormality of the vertebral column
27245	AHDC1	HP:0025573	Mild myopia
27245	AHDC1	HP:0002870	Obstructive sleep apnea
27245	AHDC1	HP:0001508	Failure to thrive
27245	AHDC1	HP:0000385	Small earlobe
27245	AHDC1	HP:0001601	Laryngomalacia
27245	AHDC1	HP:0000365	Hearing impairment
27245	AHDC1	HP:0000369	Low-set ears
27245	AHDC1	HP:0000347	Micrognathia
27245	AHDC1	HP:0000316	Hypertelorism
27245	AHDC1	HP:0005280	Depressed nasal bridge
27245	AHDC1	HP:0000486	Strabismus
27245	AHDC1	HP:0000494	Downslanted palpebral fissures
27245	AHDC1	HP:0000490	Deeply set eye
27245	AHDC1	HP:0012448	Delayed myelination
27245	AHDC1	HP:0012443	Abnormality of brain morphology
27245	AHDC1	HP:0000411	Protruding ear
27245	AHDC1	HP:0000508	Ptosis
27245	AHDC1	HP:0000582	Upslanted palpebral fissure
27245	AHDC1	HP:0000565	Esotropia
27247	NFU1	HP:0002490	Increased CSF lactate
27247	NFU1	HP:0007209	Facial paralysis
27247	NFU1	HP:0001285	Spastic tetraparesis
27247	NFU1	HP:0001254	Lethargy
27247	NFU1	HP:0001263	Global developmental delay
27247	NFU1	HP:0410309	Alpha-aminoadipic aciduria
27247	NFU1	HP:0007359	Focal-onset seizure
27247	NFU1	HP:0500230	Increased CSF glycine concentration
27247	NFU1	HP:0003811	Neonatal death
27247	NFU1	HP:0001324	Muscle weakness
27247	NFU1	HP:0000007	Autosomal recessive inheritance
27247	NFU1	HP:0001336	Myoclonus
27247	NFU1	HP:0008972	Decreased activity of mitochondrial respiratory chain
27247	NFU1	HP:0008936	Axial hypotonia
27247	NFU1	HP:0002092	Pulmonary arterial hypertension
27247	NFU1	HP:0002093	Respiratory insufficiency
27247	NFU1	HP:0002071	Abnormality of extrapyramidal motor function
27247	NFU1	HP:0002154	Hyperglycinemia
27247	NFU1	HP:0002151	Increased serum lactate
27247	NFU1	HP:0002179	Opisthotonus
27247	NFU1	HP:0003593	Infantile onset
27247	NFU1	HP:0011968	Feeding difficulties
27247	NFU1	HP:0008314	Decreased activity of mitochondrial complex II
27247	NFU1	HP:0002376	Developmental regression
27247	NFU1	HP:0002352	Leukoencephalopathy
27247	NFU1	HP:0003648	Lacticaciduria
27247	NFU1	HP:0003623	Neonatal onset
27247	NFU1	HP:0004911	Episodic metabolic acidosis
27247	NFU1	HP:0033418	Elevated circulating 2-hydroxybutyric acid concentration
27247	NFU1	HP:0011463	Childhood onset
27247	NFU1	HP:0003108	Hyperglycinuria
27247	NFU1	HP:0003128	Lactic acidosis
27247	NFU1	HP:0033044	Motor regression
27247	NFU1	HP:0002878	Respiratory failure
27247	NFU1	HP:0001522	Death in infancy
27247	NFU1	HP:0001508	Failure to thrive
27247	NFU1	HP:0012402	Increased urine alpha-ketoglutarate concentration
27249	MMADHC	HP:0002497	Spastic ataxia
27249	MMADHC	HP:0001290	Generalized hypotonia
27249	MMADHC	HP:0001288	Gait disturbance
27249	MMADHC	HP:0001254	Lethargy
27249	MMADHC	HP:0001250	Seizure
27249	MMADHC	HP:0001252	Hypotonia
27249	MMADHC	HP:0001249	Intellectual disability
27249	MMADHC	HP:0001263	Global developmental delay
27249	MMADHC	HP:0001332	Dystonia
27249	MMADHC	HP:0000007	Autosomal recessive inheritance
27249	MMADHC	HP:0012120	Methylmalonic aciduria
27249	MMADHC	HP:0002039	Anorexia
27249	MMADHC	HP:0002156	Homocystinuria
27249	MMADHC	HP:0002120	Cerebral cortical atrophy
27249	MMADHC	HP:0002160	Hyperhomocystinemia
27249	MMADHC	HP:0003593	Infantile onset
27249	MMADHC	HP:0003524	Decreased methionine synthase activity
27249	MMADHC	HP:0003658	Hypomethioninemia
27249	MMADHC	HP:0005518	Increased mean corpuscular volume
27249	MMADHC	HP:0000639	Nystagmus
27249	MMADHC	HP:0001980	Megaloblastic bone marrow
27249	MMADHC	HP:0100022	Abnormality of movement
27249	MMADHC	HP:0000708	Atypical behavior
27249	MMADHC	HP:0003145	Decreased adenosylcobalamin
27249	MMADHC	HP:0003210	Decreased methylmalonyl-CoA mutase activity
27249	MMADHC	HP:0003223	Decreased methylcobalamin
27249	MMADHC	HP:0000980	Pallor
27249	MMADHC	HP:0001508	Failure to thrive
27249	MMADHC	HP:0012378	Fatigue
27249	MMADHC	HP:0002912	Methylmalonic acidemia
27249	MMADHC	HP:0001889	Megaloblastic anemia
27286	SRPX2	HP:0002463	Language impairment
27286	SRPX2	HP:0007301	Oromotor apraxia
27286	SRPX2	HP:0007270	Atypical absence seizure
27286	SRPX2	HP:0001256	Intellectual disability, mild
27286	SRPX2	HP:0001250	Seizure
27286	SRPX2	HP:0001249	Intellectual disability
27286	SRPX2	HP:0001260	Dysarthria
27286	SRPX2	HP:0001263	Global developmental delay
27286	SRPX2	HP:0001257	Spasticity
27286	SRPX2	HP:0007359	Focal-onset seizure
27286	SRPX2	HP:0007332	Focal hemifacial clonic seizure
27286	SRPX2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
27286	SRPX2	HP:0002546	Incomprehensible speech
27286	SRPX2	HP:0002510	Spastic tetraplegia
27286	SRPX2	HP:0002509	Limb hypertonia
27286	SRPX2	HP:0001371	Flexion contracture
27286	SRPX2	HP:0012015	EEG with frontal focal spikes
27286	SRPX2	HP:0012017	EEG with parietal focal spikes
27286	SRPX2	HP:0012014	EEG with central focal spikes
27286	SRPX2	HP:0001349	Facial diplegia
27286	SRPX2	HP:0001347	Hyperreflexia
27286	SRPX2	HP:0410011	Abnormality of masticatory muscle
27286	SRPX2	HP:0001328	Specific learning disability
27286	SRPX2	HP:0001326	EEG with irregular generalized spike and wave complexes
27286	SRPX2	HP:0032407	Bilateral perisylvian polymicrogyria
27286	SRPX2	HP:0000006	Autosomal dominant inheritance
27286	SRPX2	HP:0001310	Dysmetria
27286	SRPX2	HP:0001320	Cerebellar vermis hypoplasia
27286	SRPX2	HP:0025425	Laryngospasm
27286	SRPX2	HP:0008947	Infantile muscular hypotonia
27286	SRPX2	HP:0002020	Gastroesophageal reflux
27286	SRPX2	HP:0002015	Dysphagia
27286	SRPX2	HP:0002061	Lower limb spasticity
27286	SRPX2	HP:0002079	Hypoplasia of the corpus callosum
27286	SRPX2	HP:0002076	Migraine
27286	SRPX2	HP:0011755	Ectopic posterior pituitary
27286	SRPX2	HP:0002104	Apnea
27286	SRPX2	HP:0010535	Sleep apnea
27286	SRPX2	HP:0003401	Paresthesia
27286	SRPX2	HP:0002269	Abnormality of neuronal migration
27286	SRPX2	HP:0007033	Cerebellar dysplasia
27286	SRPX2	HP:0007024	Pseudobulbar paralysis
27286	SRPX2	HP:0007018	Attention deficit hyperactivity disorder
27286	SRPX2	HP:0011968	Feeding difficulties
27286	SRPX2	HP:0002385	Paraparesis
27286	SRPX2	HP:0002392	EEG with polyspike wave complexes
27286	SRPX2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
27286	SRPX2	HP:0010808	Protruding tongue
27286	SRPX2	HP:0002307	Drooling
27286	SRPX2	HP:0020190	Perisylvian predominant thick cortex pachygyria
27286	SRPX2	HP:0009088	Speech articulation difficulties
27286	SRPX2	HP:0006889	Intellectual disability, borderline
27286	SRPX2	HP:0000639	Nystagmus
27286	SRPX2	HP:0005684	Distal arthrogryposis
27286	SRPX2	HP:0000767	Pectus excavatum
27286	SRPX2	HP:0000739	Anxiety
27286	SRPX2	HP:0000736	Short attention span
27286	SRPX2	HP:0000750	Delayed speech and language development
27286	SRPX2	HP:0000716	Depression
27286	SRPX2	HP:0000712	Emotional lability
27286	SRPX2	HP:0010300	Abnormally low-pitched voice
27286	SRPX2	HP:0000252	Microcephaly
27286	SRPX2	HP:0002835	Aspiration
27286	SRPX2	HP:0001511	Intrauterine growth retardation
27286	SRPX2	HP:0011098	Speech apraxia
27286	SRPX2	HP:0001611	Hypernasal speech
27286	SRPX2	HP:0000365	Hearing impairment
27286	SRPX2	HP:0031434	Abnormal prosody
27286	SRPX2	HP:0000347	Micrognathia
27286	SRPX2	HP:0031491	Continuous spike and waves during slow sleep
27286	SRPX2	HP:0011196	EEG with focal sharp waves
27286	SRPX2	HP:0011198	EEG with generalized epileptiform discharges
27286	SRPX2	HP:0011157	Focal sensory seizure
27286	SRPX2	HP:0030319	Weakness of facial musculature
27286	SRPX2	HP:0012469	Infantile spasms
27286	SRPX2	HP:0000453	Choanal atresia
27286	SRPX2	HP:0012557	EEG with centrotemporal focal spike waves
27286	SRPX2	HP:0012534	Dysesthesia
27315	PGAP2	HP:0001195	Single umbilical artery
27315	PGAP2	HP:0010864	Intellectual disability, severe
27315	PGAP2	HP:0010850	EEG with spike-wave complexes
27315	PGAP2	HP:0001290	Generalized hypotonia
27315	PGAP2	HP:0001288	Gait disturbance
27315	PGAP2	HP:0001256	Intellectual disability, mild
27315	PGAP2	HP:0001250	Seizure
27315	PGAP2	HP:0001252	Hypotonia
27315	PGAP2	HP:0001251	Ataxia
27315	PGAP2	HP:0001249	Intellectual disability
27315	PGAP2	HP:0001263	Global developmental delay
27315	PGAP2	HP:0002558	Supernumerary nipple
27315	PGAP2	HP:0006118	Shortening of all distal phalanges of the fingers
27315	PGAP2	HP:0002553	Highly arched eyebrow
27315	PGAP2	HP:0001385	Hip dysplasia
27315	PGAP2	HP:0002696	Abnormal parietal bone morphology
27315	PGAP2	HP:0001357	Plagiocephaly
27315	PGAP2	HP:0001344	Absent speech
27315	PGAP2	HP:0000007	Autosomal recessive inheritance
27315	PGAP2	HP:0001336	Myoclonus
27315	PGAP2	HP:0002650	Scoliosis
27315	PGAP2	HP:0001315	Reduced tendon reflexes
27315	PGAP2	HP:0000193	Bifid uvula
27315	PGAP2	HP:0000175	Cleft palate
27315	PGAP2	HP:0008947	Infantile muscular hypotonia
27315	PGAP2	HP:0000126	Hydronephrosis
27315	PGAP2	HP:0002714	Downturned corners of mouth
27315	PGAP2	HP:0002069	Bilateral tonic-clonic seizure
27315	PGAP2	HP:0002059	Cerebral atrophy
27315	PGAP2	HP:0003577	Congenital onset
27315	PGAP2	HP:0002251	Aganglionic megacolon
27315	PGAP2	HP:0002392	EEG with polyspike wave complexes
27315	PGAP2	HP:0002342	Intellectual disability, moderate
27315	PGAP2	HP:0001009	Telangiectasia
27315	PGAP2	HP:0010804	Tented upper lip vermilion
27315	PGAP2	HP:0006808	Cerebral hypomyelination
27315	PGAP2	HP:0000637	Long palpebral fissure
27315	PGAP2	HP:0000657	Oculomotor apraxia
27315	PGAP2	HP:0001999	Abnormal facial shape
27315	PGAP2	HP:0000767	Pectus excavatum
27315	PGAP2	HP:0000729	Autistic behavior
27315	PGAP2	HP:0011471	Gastrostomy tube feeding in infancy
27315	PGAP2	HP:0003196	Short nose
27315	PGAP2	HP:0003155	Elevated circulating alkaline phosphatase concentration
27315	PGAP2	HP:0040194	Increased head circumference
27315	PGAP2	HP:0040195	Decreased head circumference
27315	PGAP2	HP:0000286	Epicanthus
27315	PGAP2	HP:0000280	Coarse facial features
27315	PGAP2	HP:0000289	Broad philtrum
27315	PGAP2	HP:0030084	Clinodactyly
27315	PGAP2	HP:0000252	Microcephaly
27315	PGAP2	HP:0000248	Brachycephaly
27315	PGAP2	HP:0000218	High palate
27315	PGAP2	HP:0001545	Anteriorly placed anus
27315	PGAP2	HP:0001562	Oligohydramnios
27315	PGAP2	HP:0001510	Growth delay
27315	PGAP2	HP:0000378	Cupped ear
27315	PGAP2	HP:0000391	Thickened helices
27315	PGAP2	HP:0002905	Hyperphosphatemia
27315	PGAP2	HP:0000365	Hearing impairment
27315	PGAP2	HP:0000347	Micrognathia
27315	PGAP2	HP:0000316	Hypertelorism
27315	PGAP2	HP:0000311	Round face
27315	PGAP2	HP:0000322	Short philtrum
27315	PGAP2	HP:0000303	Mandibular prognathia
27315	PGAP2	HP:0001792	Small nail
27315	PGAP2	HP:0000455	Broad nasal tip
27315	PGAP2	HP:0000470	Short neck
27315	PGAP2	HP:0000414	Bulbous nose
27315	PGAP2	HP:0000431	Wide nasal bridge
27315	PGAP2	HP:0000426	Prominent nasal bridge
27315	PGAP2	HP:0000582	Upslanted palpebral fissure
27315	PGAP2	HP:0000594	Shallow anterior chamber
27315	PGAP2	HP:0000565	Esotropia
27315	PGAP2	HP:0000540	Hypermetropia
27316	RBMX	HP:0008619	Bilateral sensorineural hearing impairment
27316	RBMX	HP:0000053	Macroorchidism
27316	RBMX	HP:0000179	Thick lower lip vermilion
27316	RBMX	HP:0001419	X-linked recessive inheritance
27316	RBMX	HP:0002342	Intellectual disability, moderate
27316	RBMX	HP:0000629	Periorbital fullness
27316	RBMX	HP:0045025	Narrow palpebral fissure
27316	RBMX	HP:0000280	Coarse facial features
27316	RBMX	HP:0001513	Obesity
27316	RBMX	HP:0000336	Prominent supraorbital ridges
27316	RBMX	HP:0000400	Macrotia
27316	RBMX	HP:0000414	Bulbous nose
27316	RBMX	HP:0000581	Blepharophimosis
27327	TNRC6A	HP:0000006	Autosomal dominant inheritance
27327	TNRC6A	HP:0003581	Adult onset
27327	TNRC6A	HP:0033054	Myoclonic tremor
27329	ANGPTL3	HP:0000007	Autosomal recessive inheritance
27329	ANGPTL3	HP:0012153	Hypotriglyceridemia
27329	ANGPTL3	HP:0003563	Decreased LDL cholesterol concentration
27341	RRP7A	HP:0001249	Intellectual disability
27341	RRP7A	HP:0000007	Autosomal recessive inheritance
27341	RRP7A	HP:0003577	Congenital onset
27341	RRP7A	HP:0000750	Delayed speech and language development
27341	RRP7A	HP:0000252	Microcephaly
27341	RRP7A	HP:0000340	Sloping forehead
27429	HTRA2	HP:0002490	Increased CSF lactate
27429	HTRA2	HP:0025269	Panic attack
27429	HTRA2	HP:0001290	Generalized hypotonia
27429	HTRA2	HP:0001276	Hypertonia
27429	HTRA2	HP:0001250	Seizure
27429	HTRA2	HP:0001252	Hypotonia
27429	HTRA2	HP:0002578	Gastroparesis
27429	HTRA2	HP:0001257	Spasticity
27429	HTRA2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
27429	HTRA2	HP:0003811	Neonatal death
27429	HTRA2	HP:0001347	Hyperreflexia
27429	HTRA2	HP:0001332	Dystonia
27429	HTRA2	HP:0000007	Autosomal recessive inheritance
27429	HTRA2	HP:0001337	Tremor
27429	HTRA2	HP:0000006	Autosomal dominant inheritance
27429	HTRA2	HP:0002018	Nausea
27429	HTRA2	HP:0002019	Constipation
27429	HTRA2	HP:0002033	Poor suck
27429	HTRA2	HP:0040307	Male sexual dysfunction
27429	HTRA2	HP:0002014	Diarrhea
27429	HTRA2	HP:0002015	Dysphagia
27429	HTRA2	HP:0003344	3-Methylglutaric aciduria
27429	HTRA2	HP:0005943	Respiratory arrest
27429	HTRA2	HP:0100543	Cognitive impairment
27429	HTRA2	HP:0002067	Bradykinesia
27429	HTRA2	HP:0003394	Muscle spasm
27429	HTRA2	HP:0002063	Rigidity
27429	HTRA2	HP:0002079	Hypoplasia of the corpus callosum
27429	HTRA2	HP:0002059	Cerebral atrophy
27429	HTRA2	HP:0002141	Gait imbalance
27429	HTRA2	HP:0002151	Increased serum lactate
27429	HTRA2	HP:0002119	Ventriculomegaly
27429	HTRA2	HP:0002104	Apnea
27429	HTRA2	HP:0002169	Clonus
27429	HTRA2	HP:0002172	Postural instability
27429	HTRA2	HP:0100710	Impulsivity
27429	HTRA2	HP:0003535	3-Methylglutaconic aciduria
27429	HTRA2	HP:0100785	Insomnia
27429	HTRA2	HP:0011968	Feeding difficulties
27429	HTRA2	HP:0100660	Dyskinesia
27429	HTRA2	HP:0003623	Neonatal onset
27429	HTRA2	HP:0000651	Diplopia
27429	HTRA2	HP:0001998	Neonatal hypoglycemia
27429	HTRA2	HP:0000738	Hallucinations
27429	HTRA2	HP:0000739	Anxiety
27429	HTRA2	HP:0000736	Short attention span
27429	HTRA2	HP:0000735	Impaired social interactions
27429	HTRA2	HP:0000741	Apathy
27429	HTRA2	HP:0012707	Elevated brain lactate level by MRS
27429	HTRA2	HP:0000716	Depression
27429	HTRA2	HP:0000713	Agitation
27429	HTRA2	HP:0000727	Frontal lobe dementia
27429	HTRA2	HP:0000726	Dementia
27429	HTRA2	HP:0004409	Hyposmia
27429	HTRA2	HP:0040213	Hypopnea
27429	HTRA2	HP:0000952	Jaundice
27429	HTRA2	HP:0002878	Respiratory failure
27429	HTRA2	HP:0030014	Female sexual dysfunction
27429	HTRA2	HP:0001522	Death in infancy
27429	HTRA2	HP:0001508	Failure to thrive
27429	HTRA2	HP:0001510	Growth delay
27429	HTRA2	HP:0012332	Abnormal autonomic nervous system physiology
27429	HTRA2	HP:0001643	Patent ductus arteriosus
27429	HTRA2	HP:0001662	Bradycardia
27429	HTRA2	HP:0000407	Sensorineural hearing impairment
27429	HTRA2	HP:0012452	Restless legs
27429	HTRA2	HP:0005484	Secondary microcephaly
27429	HTRA2	HP:0000518	Cataract
27429	HTRA2	HP:0000551	Color vision defect
27429	HTRA2	HP:0001875	Neutropenia
27445	PCLO	HP:0002421	Poor head control
27445	PCLO	HP:0001272	Cerebellar atrophy
27445	PCLO	HP:0001250	Seizure
27445	PCLO	HP:0001263	Global developmental delay
27445	PCLO	HP:0001257	Spasticity
27445	PCLO	HP:0007366	Atrophy/Degeneration affecting the brainstem
27445	PCLO	HP:0001347	Hyperreflexia
27445	PCLO	HP:0000007	Autosomal recessive inheritance
27445	PCLO	HP:0001321	Cerebellar hypoplasia
27445	PCLO	HP:0001319	Neonatal hypotonia
27445	PCLO	HP:0008936	Axial hypotonia
27445	PCLO	HP:0002705	High, narrow palate
27445	PCLO	HP:0012110	Hypoplasia of the pons
27445	PCLO	HP:0002714	Downturned corners of mouth
27445	PCLO	HP:0002079	Hypoplasia of the corpus callosum
27445	PCLO	HP:0002059	Cerebral atrophy
27445	PCLO	HP:0003593	Infantile onset
27445	PCLO	HP:0003577	Congenital onset
27445	PCLO	HP:0002365	Hypoplasia of the brainstem
27445	PCLO	HP:0003676	Progressive
27445	PCLO	HP:0000637	Long palpebral fissure
27445	PCLO	HP:0000648	Optic atrophy
27445	PCLO	HP:0004325	Decreased body weight
27445	PCLO	HP:0004322	Short stature
27445	PCLO	HP:0034295	Reduced cerebral white matter volume
27445	PCLO	HP:0000293	Full cheeks
27445	PCLO	HP:0000253	Progressive microcephaly
27445	PCLO	HP:0000248	Brachycephaly
27445	PCLO	HP:0000218	High palate
27445	PCLO	HP:0000365	Hearing impairment
27445	PCLO	HP:0000369	Low-set ears
27445	PCLO	HP:0000343	Long philtrum
27445	PCLO	HP:0000400	Macrotia
27445	PCLO	HP:0005280	Depressed nasal bridge
27445	PCLO	HP:0000520	Proptosis
27445	PCLO	HP:0000543	Optic disc pallor
28234	SLCO1B3	HP:0010984	Digenic inheritance
28234	SLCO1B3	HP:0031137	Storage in hepatocytes
28234	SLCO1B3	HP:0010473	Porphyrinuria
28234	SLCO1B3	HP:0001046	Intermittent jaundice
28234	SLCO1B3	HP:0001000	Abnormality of skin pigmentation
28234	SLCO1B3	HP:0032106	Conjunctival icterus
28234	SLCO1B3	HP:0031811	Bilirubinuria
28234	SLCO1B3	HP:0000924	Abnormality of the skeletal system
28234	SLCO1B3	HP:0000989	Pruritus
28234	SLCO1B3	HP:0000952	Jaundice
28234	SLCO1B3	HP:0012379	Abnormal circulating enzyme concentration or activity
28234	SLCO1B3	HP:0002908	Conjugated hyperbilirubinemia
28234	SLCO1B3	HP:0002904	Hyperbilirubinemia
28514	DLL1	HP:0002465	Poor speech
28514	DLL1	HP:0002474	Expressive language delay
28514	DLL1	HP:0002451	Limb dystonia
28514	DLL1	HP:0007301	Oromotor apraxia
28514	DLL1	HP:0009932	Single naris
28514	DLL1	HP:0009914	Cyclopia
28514	DLL1	HP:0002418	Abnormal midbrain morphology
28514	DLL1	HP:0001290	Generalized hypotonia
28514	DLL1	HP:0001274	Agenesis of corpus callosum
28514	DLL1	HP:0001273	Abnormal corpus callosum morphology
28514	DLL1	HP:0001254	Lethargy
28514	DLL1	HP:0001250	Seizure
28514	DLL1	HP:0001252	Hypotonia
28514	DLL1	HP:0001251	Ataxia
28514	DLL1	HP:0001249	Intellectual disability
28514	DLL1	HP:0001263	Global developmental delay
28514	DLL1	HP:0001257	Spasticity
28514	DLL1	HP:0008736	Hypoplasia of penis
28514	DLL1	HP:0007375	Abnormal septum pellucidum morphology
28514	DLL1	HP:0002540	Inability to walk
28514	DLL1	HP:0002539	Cortical dysplasia
28514	DLL1	HP:0000062	Ambiguous genitalia
28514	DLL1	HP:0001371	Flexion contracture
28514	DLL1	HP:0001355	Megalencephaly
28514	DLL1	HP:0001360	Holoprosencephaly
28514	DLL1	HP:0001328	Specific learning disability
28514	DLL1	HP:0001344	Absent speech
28514	DLL1	HP:0000006	Autosomal dominant inheritance
28514	DLL1	HP:0002650	Scoliosis
28514	DLL1	HP:0000193	Bifid uvula
28514	DLL1	HP:0000161	Median cleft lip
28514	DLL1	HP:0000175	Cleft palate
28514	DLL1	HP:0006315	Solitary median maxillary central incisor
28514	DLL1	HP:0008947	Infantile muscular hypotonia
28514	DLL1	HP:0012110	Hypoplasia of the pons
28514	DLL1	HP:0000119	Abnormality of the genitourinary system
28514	DLL1	HP:0002793	Abnormal pattern of respiration
28514	DLL1	HP:0000104	Renal agenesis
28514	DLL1	HP:0002020	Gastroesophageal reflux
28514	DLL1	HP:0002019	Constipation
28514	DLL1	HP:0002033	Poor suck
28514	DLL1	HP:0002015	Dysphagia
28514	DLL1	HP:0002013	Vomiting
28514	DLL1	HP:0040327	Abnormal morphology of the olfactory bulb
28514	DLL1	HP:0005968	Temperature instability
28514	DLL1	HP:0002099	Asthma
28514	DLL1	HP:0011787	Central hypothyroidism
28514	DLL1	HP:0003468	Abnormal vertebral morphology
28514	DLL1	HP:0002119	Ventriculomegaly
28514	DLL1	HP:0003458	EMG: myopathic abnormalities
28514	DLL1	HP:0002270	Abnormality of the autonomic nervous system
28514	DLL1	HP:0002269	Abnormality of neuronal migration
28514	DLL1	HP:0100704	Cerebral visual impairment
28514	DLL1	HP:0100710	Impulsivity
28514	DLL1	HP:0002247	Duodenal atresia
28514	DLL1	HP:0010654	Aplasia of the falx cerebri
28514	DLL1	HP:0007018	Attention deficit hyperactivity disorder
28514	DLL1	HP:0010644	Midnasal stenosis
28514	DLL1	HP:0011968	Feeding difficulties
28514	DLL1	HP:0011951	Aspiration pneumonia
28514	DLL1	HP:0002363	Abnormal brainstem morphology
28514	DLL1	HP:0001028	Hemangioma
28514	DLL1	HP:0010804	Tented upper lip vermilion
28514	DLL1	HP:0009800	Maternal diabetes
28514	DLL1	HP:0031860	Abnormal heart rate variability
28514	DLL1	HP:0000612	Iris coloboma
28514	DLL1	HP:0000601	Hypotelorism
28514	DLL1	HP:0009062	Infantile axial hypotonia
28514	DLL1	HP:0012650	Perisylvian polymicrogyria
28514	DLL1	HP:0001999	Abnormal facial shape
28514	DLL1	HP:0004322	Short stature
28514	DLL1	HP:0006979	Sleep-wake cycle disturbance
28514	DLL1	HP:0030680	Abnormality of cardiovascular system morphology
28514	DLL1	HP:0031913	Rhombencephalosynapsis
28514	DLL1	HP:0000772	Abnormal rib morphology
28514	DLL1	HP:0000737	Irritability
28514	DLL1	HP:0000739	Anxiety
28514	DLL1	HP:0000736	Short attention span
28514	DLL1	HP:0012718	Morphological abnormality of the gastrointestinal tract
28514	DLL1	HP:0000741	Apathy
28514	DLL1	HP:0000716	Depression
28514	DLL1	HP:0000729	Autistic behavior
28514	DLL1	HP:0000708	Atypical behavior
28514	DLL1	HP:0011471	Gastrostomy tube feeding in infancy
28514	DLL1	HP:0011442	Abnormal central motor function
28514	DLL1	HP:0003196	Short nose
28514	DLL1	HP:0000924	Abnormality of the skeletal system
28514	DLL1	HP:0004478	Ethmoidal encephalocele
28514	DLL1	HP:0000873	Diabetes insipidus
28514	DLL1	HP:0000871	Panhypopituitarism
28514	DLL1	HP:0000863	Central diabetes insipidus
28514	DLL1	HP:0000830	Anterior hypopituitarism
28514	DLL1	HP:0012806	Proboscis
28514	DLL1	HP:0000818	Abnormality of the endocrine system
28514	DLL1	HP:0000826	Precocious puberty
28514	DLL1	HP:0000821	Hypothyroidism
28514	DLL1	HP:0000824	Decreased response to growth hormone stimulation test
28514	DLL1	HP:0040064	Abnormality of limbs
28514	DLL1	HP:0045005	Neural tube defect
28514	DLL1	HP:0012285	Abnormal hypothalamus physiology
28514	DLL1	HP:0000256	Macrocephaly
28514	DLL1	HP:0002827	Hip dislocation
28514	DLL1	HP:0000238	Hydrocephalus
28514	DLL1	HP:0000252	Microcephaly
28514	DLL1	HP:0000218	High palate
28514	DLL1	HP:0001545	Anteriorly placed anus
28514	DLL1	HP:0002871	Central apnea
28514	DLL1	HP:0000202	Orofacial cleft
28514	DLL1	HP:0001508	Failure to thrive
28514	DLL1	HP:0001511	Intrauterine growth retardation
28514	DLL1	HP:0001510	Growth delay
28514	DLL1	HP:0006528	Chronic lung disease
28514	DLL1	HP:0001680	Coarctation of aorta
28514	DLL1	HP:0000322	Short philtrum
28514	DLL1	HP:0001627	Abnormal heart morphology
28514	DLL1	HP:0001622	Premature birth
28514	DLL1	HP:0001636	Tetralogy of Fallot
28514	DLL1	HP:0000407	Sensorineural hearing impairment
28514	DLL1	HP:0000486	Strabismus
28514	DLL1	HP:0000478	Abnormality of the eye
28514	DLL1	HP:0000463	Anteverted nares
28514	DLL1	HP:0000457	Depressed nasal ridge
28514	DLL1	HP:0012443	Abnormality of brain morphology
28514	DLL1	HP:0000453	Choanal atresia
28514	DLL1	HP:0000446	Narrow nasal bridge
28755	TRAC	HP:0000007	Autosomal recessive inheritance
28755	TRAC	HP:0002716	Lymphadenopathy
28755	TRAC	HP:0002014	Diarrhea
28755	TRAC	HP:0003593	Infantile onset
28755	TRAC	HP:0002240	Hepatomegaly
28755	TRAC	HP:0002232	Patchy alopecia
28755	TRAC	HP:0002205	Recurrent respiratory infections
28755	TRAC	HP:0032061	Hypereosinophilia
28755	TRAC	HP:0020072	Persistent EBV viremia
28755	TRAC	HP:0001045	Vitiligo
28755	TRAC	HP:0032170	Severe varicella zoster infection
28755	TRAC	HP:0009098	Chronic oral candidiasis
28755	TRAC	HP:0011463	Childhood onset
28755	TRAC	HP:0001508	Failure to thrive
28755	TRAC	HP:0002960	Autoimmunity
28755	TRAC	HP:0000403	Recurrent otitis media
28755	TRAC	HP:0001744	Splenomegaly
28755	TRAC	HP:0001890	Autoimmune hemolytic anemia
28755	TRAC	HP:0001875	Neutropenia
28952	CCDC22	HP:0001156	Brachydactyly
28952	CCDC22	HP:0001161	Hand polydactyly
28952	CCDC22	HP:0001159	Syndactyly
28952	CCDC22	HP:0002465	Poor speech
28952	CCDC22	HP:0001195	Single umbilical artery
28952	CCDC22	HP:0009882	Short distal phalanx of finger
28952	CCDC22	HP:0001290	Generalized hypotonia
28952	CCDC22	HP:0001252	Hypotonia
28952	CCDC22	HP:0001249	Intellectual disability
28952	CCDC22	HP:0001263	Global developmental delay
28952	CCDC22	HP:0002566	Intestinal malrotation
28952	CCDC22	HP:0006101	Finger syndactyly
28952	CCDC22	HP:0008736	Hypoplasia of penis
28952	CCDC22	HP:0007360	Aplasia/Hypoplasia of the cerebellum
28952	CCDC22	HP:0000047	Hypospadias
28952	CCDC22	HP:0000023	Inguinal hernia
28952	CCDC22	HP:0000028	Cryptorchidism
28952	CCDC22	HP:0008897	Postnatal growth retardation
28952	CCDC22	HP:0008872	Feeding difficulties in infancy
28952	CCDC22	HP:0001305	Dandy-Walker malformation
28952	CCDC22	HP:0002650	Scoliosis
28952	CCDC22	HP:0001321	Cerebellar hypoplasia
28952	CCDC22	HP:0000175	Cleft palate
28952	CCDC22	HP:0002705	High, narrow palate
28952	CCDC22	HP:0000126	Hydronephrosis
28952	CCDC22	HP:0001419	X-linked recessive inheritance
28952	CCDC22	HP:0002023	Anal atresia
28952	CCDC22	HP:0002020	Gastroesophageal reflux
28952	CCDC22	HP:0002007	Frontal bossing
28952	CCDC22	HP:0002119	Ventriculomegaly
28952	CCDC22	HP:0002167	Abnormality of speech or vocalization
28952	CCDC22	HP:0002162	Low posterior hairline
28952	CCDC22	HP:0002269	Abnormality of neuronal migration
28952	CCDC22	HP:0002205	Recurrent respiratory infections
28952	CCDC22	HP:0010808	Protruding tongue
28952	CCDC22	HP:0000648	Optic atrophy
28952	CCDC22	HP:0000612	Iris coloboma
28952	CCDC22	HP:0010055	Broad hallux
28952	CCDC22	HP:0004322	Short stature
28952	CCDC22	HP:0004383	Hypoplastic left heart
28952	CCDC22	HP:0004397	Ectopic anus
28952	CCDC22	HP:0003196	Short nose
28952	CCDC22	HP:0000921	Missing ribs
28952	CCDC22	HP:0000835	Adrenal hypoplasia
28952	CCDC22	HP:0003272	Abnormal hip bone morphology
28952	CCDC22	HP:0000256	Macrocephaly
28952	CCDC22	HP:0000269	Prominent occiput
28952	CCDC22	HP:0030084	Clinodactyly
28952	CCDC22	HP:0002808	Kyphosis
28952	CCDC22	HP:0000238	Hydrocephalus
28952	CCDC22	HP:0000235	Abnormality of the fontanelles or cranial sutures
28952	CCDC22	HP:0001522	Death in infancy
28952	CCDC22	HP:0000202	Orofacial cleft
28952	CCDC22	HP:0001510	Growth delay
28952	CCDC22	HP:0012385	Camptodactyly
28952	CCDC22	HP:0000384	Preauricular skin tag
28952	CCDC22	HP:0002937	Hemivertebrae
28952	CCDC22	HP:0000369	Low-set ears
28952	CCDC22	HP:0000337	Broad forehead
28952	CCDC22	HP:0000347	Micrognathia
28952	CCDC22	HP:0001650	Aortic valve stenosis
28952	CCDC22	HP:0000316	Hypertelorism
28952	CCDC22	HP:0001643	Patent ductus arteriosus
28952	CCDC22	HP:0001642	Pulmonic stenosis
28952	CCDC22	HP:0000329	Facial hemangioma
28952	CCDC22	HP:0000322	Short philtrum
28952	CCDC22	HP:0001629	Ventricular septal defect
28952	CCDC22	HP:0001636	Tetralogy of Fallot
28952	CCDC22	HP:0001631	Atrial septal defect
28952	CCDC22	HP:0001633	Abnormal mitral valve morphology
28952	CCDC22	HP:0006695	Atrioventricular canal defect
28952	CCDC22	HP:0001702	Abnormal tricuspid valve morphology
28952	CCDC22	HP:0005280	Depressed nasal bridge
28952	CCDC22	HP:0000494	Downslanted palpebral fissures
28952	CCDC22	HP:0000475	Broad neck
28952	CCDC22	HP:0000470	Short neck
28952	CCDC22	HP:0000431	Wide nasal bridge
28952	CCDC22	HP:0006709	Aplasia/Hypoplasia of the nipples
28952	CCDC22	HP:0001845	Overlapping toe
28952	CCDC22	HP:0000501	Glaucoma
28952	CCDC22	HP:0001804	Hypoplastic fingernail
28952	CCDC22	HP:0000582	Upslanted palpebral fissure
28952	CCDC22	HP:0000567	Chorioretinal coloboma
28956	LAMTOR2	HP:0007443	Partial albinism
28956	LAMTOR2	HP:0000007	Autosomal recessive inheritance
28956	LAMTOR2	HP:0002721	Immunodeficiency
28956	LAMTOR2	HP:0001010	Hypopigmentation of the skin
28956	LAMTOR2	HP:0005599	Hypopigmentation of hair
28956	LAMTOR2	HP:0004322	Short stature
28956	LAMTOR2	HP:0000280	Coarse facial features
28956	LAMTOR2	HP:0002850	Decreased circulating total IgM
28956	LAMTOR2	HP:0006538	Recurrent bronchopulmonary infections
28956	LAMTOR2	HP:0001875	Neutropenia
28957	MRPS28	HP:0001290	Generalized hypotonia
28957	MRPS28	HP:0000028	Cryptorchidism
28957	MRPS28	HP:0000007	Autosomal recessive inheritance
28957	MRPS28	HP:0002015	Dysphagia
28957	MRPS28	HP:0002151	Increased serum lactate
28957	MRPS28	HP:0002240	Hepatomegaly
28957	MRPS28	HP:0004279	Short palm
28957	MRPS28	HP:0001944	Dehydration
28957	MRPS28	HP:0001943	Hypoglycemia
28957	MRPS28	HP:0001942	Metabolic acidosis
28957	MRPS28	HP:0000926	Platyspondyly
28957	MRPS28	HP:0010248	Cone-shaped epiphyses of the distal phalanges of the hand
28957	MRPS28	HP:0000252	Microcephaly
28957	MRPS28	HP:0001508	Failure to thrive
28957	MRPS28	HP:0001511	Intrauterine growth retardation
28957	MRPS28	HP:0002910	Elevated hepatic transaminase
28957	MRPS28	HP:0000358	Posteriorly rotated ears
28957	MRPS28	HP:0000369	Low-set ears
28957	MRPS28	HP:0000343	Long philtrum
28957	MRPS28	HP:0000311	Round face
28957	MRPS28	HP:0000407	Sensorineural hearing impairment
28957	MRPS28	HP:0000470	Short neck
28957	MRPS28	HP:0001770	Toe syndactyly
28957	MRPS28	HP:0000518	Cataract
28957	MRPS28	HP:0000508	Ptosis
28958	COA3	HP:0001263	Global developmental delay
28958	COA3	HP:0000007	Autosomal recessive inheritance
28958	COA3	HP:0100543	Cognitive impairment
28958	COA3	HP:0003546	Exercise intolerance
28958	COA3	HP:0008347	Decreased activity of mitochondrial complex IV
28958	COA3	HP:0003688	Cytochrome C oxidase-negative muscle fibers
28958	COA3	HP:0007141	Sensorimotor neuropathy
28958	COA3	HP:0004322	Short stature
28958	COA3	HP:0000286	Epicanthus
28958	COA3	HP:0001513	Obesity
28958	COA3	HP:0000490	Deeply set eye
28960	DCPS	HP:0001156	Brachydactyly
28960	DCPS	HP:0001250	Seizure
28960	DCPS	HP:0001252	Hypotonia
28960	DCPS	HP:0001263	Global developmental delay
28960	DCPS	HP:0002540	Inability to walk
28960	DCPS	HP:0025336	Delayed ability to sit
28960	DCPS	HP:0001388	Joint laxity
28960	DCPS	HP:0001344	Absent speech
28960	DCPS	HP:0000007	Autosomal recessive inheritance
28960	DCPS	HP:0000160	Narrow mouth
28960	DCPS	HP:0002066	Gait ataxia
28960	DCPS	HP:0003577	Congenital onset
28960	DCPS	HP:0001010	Hypopigmentation of the skin
28960	DCPS	HP:0031936	Delayed ability to walk
28960	DCPS	HP:0000750	Delayed speech and language development
28960	DCPS	HP:0003196	Short nose
28960	DCPS	HP:0000252	Microcephaly
28960	DCPS	HP:0000219	Thin upper lip vermilion
28960	DCPS	HP:0012368	Flat face
28960	DCPS	HP:0000369	Low-set ears
28960	DCPS	HP:0001631	Atrial septal defect
28960	DCPS	HP:0000490	Deeply set eye
28960	DCPS	HP:0012450	Chronic constipation
28960	DCPS	HP:0001852	Sandal gap
28962	OSTM1	HP:0025116	Fetal distress
28962	OSTM1	HP:0001141	Severely reduced visual acuity
28962	OSTM1	HP:0002421	Poor head control
28962	OSTM1	HP:0001290	Generalized hypotonia
28962	OSTM1	HP:0001276	Hypertonia
28962	OSTM1	HP:0001274	Agenesis of corpus callosum
28962	OSTM1	HP:0001250	Seizure
28962	OSTM1	HP:0001263	Global developmental delay
28962	OSTM1	HP:0003826	Stillbirth
28962	OSTM1	HP:0002510	Spastic tetraplegia
28962	OSTM1	HP:0002509	Limb hypertonia
28962	OSTM1	HP:0001399	Hepatic failure
28962	OSTM1	HP:0001347	Hyperreflexia
28962	OSTM1	HP:0001338	Partial agenesis of the corpus callosum
28962	OSTM1	HP:0000007	Autosomal recessive inheritance
28962	OSTM1	HP:0008936	Axial hypotonia
28962	OSTM1	HP:0001433	Hepatosplenomegaly
28962	OSTM1	HP:0002090	Pneumonia
28962	OSTM1	HP:0002059	Cerebral atrophy
28962	OSTM1	HP:0002119	Ventriculomegaly
28962	OSTM1	HP:0002197	Generalized-onset seizure
28962	OSTM1	HP:0002169	Clonus
28962	OSTM1	HP:0003593	Infantile onset
28962	OSTM1	HP:0002240	Hepatomegaly
28962	OSTM1	HP:0010628	Facial palsy
28962	OSTM1	HP:0004840	Hypochromic microcytic anemia
28962	OSTM1	HP:0007204	Diffuse white matter abnormalities
28962	OSTM1	HP:0009830	Peripheral neuropathy
28962	OSTM1	HP:0003623	Neonatal onset
28962	OSTM1	HP:0006824	Cranial nerve paralysis
28962	OSTM1	HP:0000639	Nystagmus
28962	OSTM1	HP:0000648	Optic atrophy
28962	OSTM1	HP:0001978	Extramedullary hematopoiesis
28962	OSTM1	HP:0001974	Leukocytosis
28962	OSTM1	HP:0001903	Anemia
28962	OSTM1	HP:0004322	Short stature
28962	OSTM1	HP:0004330	Increased skull ossification
28962	OSTM1	HP:0003015	Flared metaphysis
28962	OSTM1	HP:0000737	Irritability
28962	OSTM1	HP:0011499	Mydriasis
28962	OSTM1	HP:0004437	Cranial hyperostosis
28962	OSTM1	HP:0003256	Abnormality of the coagulation cascade
28962	OSTM1	HP:0000238	Hydrocephalus
28962	OSTM1	HP:0000252	Microcephaly
28962	OSTM1	HP:0002878	Respiratory failure
28962	OSTM1	HP:0000212	Gingival overgrowth
28962	OSTM1	HP:0025517	Hypoplastic hippocampus
28962	OSTM1	HP:0001541	Ascites
28962	OSTM1	HP:0030043	Hip subluxation
28962	OSTM1	HP:0001510	Growth delay
28962	OSTM1	HP:0002904	Hyperbilirubinemia
28962	OSTM1	HP:0002901	Hypocalcemia
28962	OSTM1	HP:0000343	Long philtrum
28962	OSTM1	HP:0011002	Osteopetrosis
28962	OSTM1	HP:0011001	Increased bone mineral density
28962	OSTM1	HP:0000347	Micrognathia
28962	OSTM1	HP:0000321	Square face
28962	OSTM1	HP:0007965	Undetectable visual evoked potentials
28962	OSTM1	HP:0030328	Decreased osteoclast count
28962	OSTM1	HP:0000405	Conductive hearing impairment
28962	OSTM1	HP:0012444	Brain atrophy
28962	OSTM1	HP:0012447	Abnormal myelination
28962	OSTM1	HP:0001744	Splenomegaly
28962	OSTM1	HP:0000520	Proptosis
28962	OSTM1	HP:0000505	Visual impairment
28962	OSTM1	HP:0000543	Optic disc pallor
28962	OSTM1	HP:0001873	Thrombocytopenia
28962	OSTM1	HP:0001876	Pancytopenia
28976	ACAD9	HP:0001298	Encephalopathy
28976	ACAD9	HP:0001297	Stroke
28976	ACAD9	HP:0001290	Generalized hypotonia
28976	ACAD9	HP:0001252	Hypotonia
28976	ACAD9	HP:0003819	Death in childhood
28976	ACAD9	HP:0001397	Hepatic steatosis
28976	ACAD9	HP:0001399	Hepatic failure
28976	ACAD9	HP:0001324	Muscle weakness
28976	ACAD9	HP:0000007	Autosomal recessive inheritance
28976	ACAD9	HP:0025435	Increased circulating lactate dehydrogenase concentration
28976	ACAD9	HP:0001414	Microvesicular hepatic steatosis
28976	ACAD9	HP:0003326	Myalgia
28976	ACAD9	HP:0003324	Generalized muscle weakness
28976	ACAD9	HP:0008151	Prolonged prothrombin time
28976	ACAD9	HP:0003473	Fatigable weakness
28976	ACAD9	HP:0002151	Increased serum lactate
28976	ACAD9	HP:0003458	EMG: myopathic abnormalities
28976	ACAD9	HP:0011923	Decreased activity of mitochondrial complex I
28976	ACAD9	HP:0002181	Cerebral edema
28976	ACAD9	HP:0003577	Congenital onset
28976	ACAD9	HP:0003546	Exercise intolerance
28976	ACAD9	HP:0008331	Elevated creatine kinase after exercise
28976	ACAD9	HP:0001943	Hypoglycemia
28976	ACAD9	HP:0001958	Nonketotic hypoglycemia
28976	ACAD9	HP:0001987	Hyperammonemia
28976	ACAD9	HP:0003198	Myopathy
28976	ACAD9	HP:0003128	Lactic acidosis
28976	ACAD9	HP:0003234	Decreased plasma carnitine
28976	ACAD9	HP:0003215	Dicarboxylic aciduria
28976	ACAD9	HP:0045045	Elevated circulating acylcarnitine concentration
28976	ACAD9	HP:0011695	Cerebellar hemorrhage
28976	ACAD9	HP:0001522	Death in infancy
28976	ACAD9	HP:0001508	Failure to thrive
28976	ACAD9	HP:0006554	Acute hepatic failure
28976	ACAD9	HP:0002910	Elevated hepatic transaminase
28976	ACAD9	HP:0001645	Sudden cardiac death
28976	ACAD9	HP:0001644	Dilated cardiomyopathy
28976	ACAD9	HP:0001639	Hypertrophic cardiomyopathy
28976	ACAD9	HP:0001635	Congestive heart failure
28976	ACAD9	HP:0001873	Thrombocytopenia
28981	IFT81	HP:0001156	Brachydactyly
28981	IFT81	HP:0001159	Syndactyly
28981	IFT81	HP:0001290	Generalized hypotonia
28981	IFT81	HP:0000062	Ambiguous genitalia
28981	IFT81	HP:0000007	Autosomal recessive inheritance
28981	IFT81	HP:0011800	Midface retrusion
28981	IFT81	HP:0002089	Pulmonary hypoplasia
28981	IFT81	HP:0002098	Respiratory distress
28981	IFT81	HP:0000774	Narrow chest
28981	IFT81	HP:0000773	Short ribs
28981	IFT81	HP:0004482	Relative macrocephaly
28981	IFT81	HP:0000888	Horizontal ribs
28981	IFT81	HP:0000895	Lateral clavicle hook
28981	IFT81	HP:0100259	Postaxial polydactyly
28981	IFT81	HP:0000946	Hypoplastic ilia
28981	IFT81	HP:0000268	Dolichocephaly
28981	IFT81	HP:0000269	Prominent occiput
28981	IFT81	HP:0002878	Respiratory failure
28981	IFT81	HP:0001539	Omphalocele
28981	IFT81	HP:0005257	Thoracic hypoplasia
28981	IFT81	HP:0000369	Low-set ears
28981	IFT81	HP:0000343	Long philtrum
28981	IFT81	HP:0002983	Micromelia
28981	IFT81	HP:0002984	Hypoplasia of the radius
28981	IFT81	HP:0001629	Ventricular septal defect
28981	IFT81	HP:0005280	Depressed nasal bridge
28981	IFT81	HP:0000520	Proptosis
28981	IFT81	HP:0011220	Prominent forehead
28982	FLVCR1	HP:0002460	Distal muscle weakness
28982	FLVCR1	HP:0010871	Sensory ataxia
28982	FLVCR1	HP:0002403	Positive Romberg sign
28982	FLVCR1	HP:0001290	Generalized hypotonia
28982	FLVCR1	HP:0001288	Gait disturbance
28982	FLVCR1	HP:0001284	Areflexia
28982	FLVCR1	HP:0001250	Seizure
28982	FLVCR1	HP:0001251	Ataxia
28982	FLVCR1	HP:0002579	Gastrointestinal dysmotility
28982	FLVCR1	HP:0001249	Intellectual disability
28982	FLVCR1	HP:0002571	Achalasia
28982	FLVCR1	HP:0000020	Urinary incontinence
28982	FLVCR1	HP:0000010	Recurrent urinary tract infections
28982	FLVCR1	HP:0000007	Autosomal recessive inheritance
28982	FLVCR1	HP:0002650	Scoliosis
28982	FLVCR1	HP:0002607	Bowel incontinence
28982	FLVCR1	HP:0002754	Osteomyelitis
28982	FLVCR1	HP:0002066	Gait ataxia
28982	FLVCR1	HP:0003394	Muscle spasm
28982	FLVCR1	HP:0040272	Hyperintensity of MRI T2 signal of the spinal cord
28982	FLVCR1	HP:0009473	Joint contracture of the hand
28982	FLVCR1	HP:0002143	Abnormal spinal cord morphology
28982	FLVCR1	HP:0003448	Decreased sensory nerve conduction velocity
28982	FLVCR1	HP:0002136	Broad-based gait
28982	FLVCR1	HP:0002194	Delayed gross motor development
28982	FLVCR1	HP:0002166	Impaired vibration sensation in the lower limbs
28982	FLVCR1	HP:0003677	Slowly progressive
28982	FLVCR1	HP:0010831	Impaired proprioception
28982	FLVCR1	HP:0030529	Ring scotoma
28982	FLVCR1	HP:0000648	Optic atrophy
28982	FLVCR1	HP:0000618	Blindness
28982	FLVCR1	HP:0000662	Nyctalopia
28982	FLVCR1	HP:0031936	Delayed ability to walk
28982	FLVCR1	HP:0012785	Flexion contracture of finger
28982	FLVCR1	HP:0011463	Childhood onset
28982	FLVCR1	HP:0040078	Axonal degeneration
28982	FLVCR1	HP:0003202	Skeletal muscle atrophy
28982	FLVCR1	HP:0045010	Abnormality of peripheral nerves
28982	FLVCR1	HP:0040132	Abnormal sensory nerve conduction velocity
28982	FLVCR1	HP:0007737	Bone spicule pigmentation of the retina
28982	FLVCR1	HP:0002808	Kyphosis
28982	FLVCR1	HP:0007843	Attenuation of retinal blood vessels
28982	FLVCR1	HP:0011096	Peripheral demyelination
28982	FLVCR1	HP:0012385	Camptodactyly
28982	FLVCR1	HP:0030147	Truncal titubation
28982	FLVCR1	HP:0000518	Cataract
28982	FLVCR1	HP:0000510	Rod-cone dystrophy
28982	FLVCR1	HP:0000580	Pigmentary retinopathy
28982	FLVCR1	HP:0000572	Visual loss
28982	FLVCR1	HP:0012532	Chronic pain
28982	FLVCR1	HP:0000550	Undetectable electroretinogram
29071	C1GALT1C1	HP:0001428	Somatic mutation
29071	C1GALT1C1	HP:0002960	Autoimmunity
29071	C1GALT1C1	HP:0001877	Abnormal erythrocyte morphology
29072	SETD2	HP:0001176	Large hands
29072	SETD2	HP:0002442	Dyscalculia
29072	SETD2	HP:0010957	Congenital posterior urethral valve
29072	SETD2	HP:0100962	Shyness
29072	SETD2	HP:0009890	High anterior hairline
29072	SETD2	HP:0010864	Intellectual disability, severe
29072	SETD2	HP:0001290	Generalized hypotonia
29072	SETD2	HP:0001256	Intellectual disability, mild
29072	SETD2	HP:0001250	Seizure
29072	SETD2	HP:0001252	Hypotonia
29072	SETD2	HP:0001249	Intellectual disability
29072	SETD2	HP:0002591	Polyphagia
29072	SETD2	HP:0001263	Global developmental delay
29072	SETD2	HP:0410263	Brain imaging abnormality
29072	SETD2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
29072	SETD2	HP:0000083	Renal insufficiency
29072	SETD2	HP:0000098	Tall stature
29072	SETD2	HP:0000077	Abnormality of the kidney
29072	SETD2	HP:0000076	Vesicoureteral reflux
29072	SETD2	HP:0000073	Ureteral duplication
29072	SETD2	HP:0000074	Ureteropelvic junction obstruction
29072	SETD2	HP:0001371	Flexion contracture
29072	SETD2	HP:0001388	Joint laxity
29072	SETD2	HP:0000047	Hypospadias
29072	SETD2	HP:0000023	Inguinal hernia
29072	SETD2	HP:0001350	Slurred speech
29072	SETD2	HP:0001363	Craniosynostosis
29072	SETD2	HP:0000034	Hydrocele testis
29072	SETD2	HP:0000028	Cryptorchidism
29072	SETD2	HP:0002664	Neoplasm
29072	SETD2	HP:0001337	Tremor
29072	SETD2	HP:0000006	Autosomal dominant inheritance
29072	SETD2	HP:0001320	Cerebellar vermis hypoplasia
29072	SETD2	HP:0002650	Scoliosis
29072	SETD2	HP:0032447	Pulmonary bleb
29072	SETD2	HP:0000164	Abnormality of the dentition
29072	SETD2	HP:0000144	Decreased fertility
29072	SETD2	HP:0000147	Polycystic ovaries
29072	SETD2	HP:0031284	Flushing
29072	SETD2	HP:0000126	Hydronephrosis
29072	SETD2	HP:0000104	Renal agenesis
29072	SETD2	HP:0002020	Gastroesophageal reflux
29072	SETD2	HP:0002019	Constipation
29072	SETD2	HP:0004691	2-3 toe syndactyly
29072	SETD2	HP:0002069	Bilateral tonic-clonic seizure
29072	SETD2	HP:0003396	Syringomyelia
29072	SETD2	HP:0002059	Cerebral atrophy
29072	SETD2	HP:0003468	Abnormal vertebral morphology
29072	SETD2	HP:0002123	Generalized myoclonic seizure
29072	SETD2	HP:0002121	Generalized non-motor (absence) seizure
29072	SETD2	HP:0002119	Ventriculomegaly
29072	SETD2	HP:0004768	Sparse anterior scalp hair
29072	SETD2	HP:0009592	Astrocytoma
29072	SETD2	HP:0002251	Aganglionic megacolon
29072	SETD2	HP:0002280	Enlarged cisterna magna
29072	SETD2	HP:0007018	Attention deficit hyperactivity disorder
29072	SETD2	HP:0011968	Feeding difficulties
29072	SETD2	HP:0002389	Cavum septum pellucidum
29072	SETD2	HP:0002384	Focal impaired awareness seizure
29072	SETD2	HP:0001028	Hemangioma
29072	SETD2	HP:0002370	Poor coordination
29072	SETD2	HP:0002342	Intellectual disability, moderate
29072	SETD2	HP:0001010	Hypopigmentation of the skin
29072	SETD2	HP:0001007	Hirsutism
29072	SETD2	HP:0008498	No permanent dentition
29072	SETD2	HP:0009797	Cholesteatoma
29072	SETD2	HP:0010741	Pedal edema
29072	SETD2	HP:0002308	Chiari malformation
29072	SETD2	HP:0004942	Aortic aneurysm
29072	SETD2	HP:0004233	Advanced ossification of carpal bones
29072	SETD2	HP:0000639	Nystagmus
29072	SETD2	HP:0000696	Delayed eruption of permanent teeth
29072	SETD2	HP:0000668	Hypodontia
29072	SETD2	HP:0001998	Neonatal hypoglycemia
29072	SETD2	HP:0004322	Short stature
29072	SETD2	HP:0005617	Bilateral camptodactyly
29072	SETD2	HP:0005616	Accelerated skeletal maturation
29072	SETD2	HP:0003072	Hypercalcemia
29072	SETD2	HP:0003006	Neuroblastoma
29072	SETD2	HP:0400000	Tall chin
29072	SETD2	HP:0000767	Pectus excavatum
29072	SETD2	HP:0000739	Anxiety
29072	SETD2	HP:0000750	Delayed speech and language development
29072	SETD2	HP:0000718	Aggressive behavior
29072	SETD2	HP:0000729	Autistic behavior
29072	SETD2	HP:0000708	Atypical behavior
29072	SETD2	HP:0012771	Increased arm span
29072	SETD2	HP:0030736	Sacrococcygeal teratoma
29072	SETD2	HP:0003189	Long nose
29072	SETD2	HP:0000858	Irregular menstruation
29072	SETD2	HP:0000821	Hypothyroidism
29072	SETD2	HP:0003273	Hip contracture
29072	SETD2	HP:0000953	Hyperpigmentation of the skin
29072	SETD2	HP:0040194	Increased head circumference
29072	SETD2	HP:0000280	Coarse facial features
29072	SETD2	HP:0000256	Macrocephaly
29072	SETD2	HP:0000275	Narrow face
29072	SETD2	HP:0000276	Long face
29072	SETD2	HP:0000272	Malar flattening
29072	SETD2	HP:0000268	Dolichocephaly
29072	SETD2	HP:0006466	Ankle flexion contracture
29072	SETD2	HP:0002808	Kyphosis
29072	SETD2	HP:0001548	Overgrowth
29072	SETD2	HP:0001537	Umbilical hernia
29072	SETD2	HP:0001513	Obesity
29072	SETD2	HP:0000389	Chronic otitis media
29072	SETD2	HP:0006579	Prolonged neonatal jaundice
29072	SETD2	HP:0000365	Hearing impairment
29072	SETD2	HP:0000348	High forehead
29072	SETD2	HP:0001643	Patent ductus arteriosus
29072	SETD2	HP:0001629	Ventricular septal defect
29072	SETD2	HP:0001627	Abnormal heart morphology
29072	SETD2	HP:0000307	Pointed chin
29072	SETD2	HP:0001631	Atrial septal defect
29072	SETD2	HP:0000303	Mandibular prognathia
29072	SETD2	HP:0000403	Recurrent otitis media
29072	SETD2	HP:0000405	Conductive hearing impairment
29072	SETD2	HP:0000483	Astigmatism
29072	SETD2	HP:0000486	Strabismus
29072	SETD2	HP:0000494	Downslanted palpebral fissures
29072	SETD2	HP:0001792	Small nail
29072	SETD2	HP:0001763	Pes planus
29072	SETD2	HP:0001741	Phimosis
29072	SETD2	HP:0001762	Talipes equinovarus
29072	SETD2	HP:0006721	Acute lymphoblastic leukemia
29072	SETD2	HP:0000518	Cataract
29072	SETD2	HP:0001833	Long foot
29072	SETD2	HP:0030357	Small cell lung carcinoma
29072	SETD2	HP:0011220	Prominent forehead
29072	SETD2	HP:0000540	Hypermetropia
29072	SETD2	HP:0000545	Myopia
29078	NDUFAF4	HP:0025116	Fetal distress
29078	NDUFAF4	HP:0002490	Increased CSF lactate
29078	NDUFAF4	HP:0001138	Optic neuropathy
29078	NDUFAF4	HP:0007305	CNS demyelination
29078	NDUFAF4	HP:0002421	Poor head control
29078	NDUFAF4	HP:0002415	Leukodystrophy
29078	NDUFAF4	HP:0003737	Mitochondrial myopathy
29078	NDUFAF4	HP:0001298	Encephalopathy
29078	NDUFAF4	HP:0001290	Generalized hypotonia
29078	NDUFAF4	HP:0001272	Cerebellar atrophy
29078	NDUFAF4	HP:0001254	Lethargy
29078	NDUFAF4	HP:0001252	Hypotonia
29078	NDUFAF4	HP:0001251	Ataxia
29078	NDUFAF4	HP:0001263	Global developmental delay
29078	NDUFAF4	HP:0002510	Spastic tetraplegia
29078	NDUFAF4	HP:0003811	Neonatal death
29078	NDUFAF4	HP:0001371	Flexion contracture
29078	NDUFAF4	HP:0001347	Hyperreflexia
29078	NDUFAF4	HP:0001332	Dystonia
29078	NDUFAF4	HP:0001324	Muscle weakness
29078	NDUFAF4	HP:0000007	Autosomal recessive inheritance
29078	NDUFAF4	HP:0000114	Proximal tubulopathy
29078	NDUFAF4	HP:0002013	Vomiting
29078	NDUFAF4	HP:0002093	Respiratory insufficiency
29078	NDUFAF4	HP:0002069	Bilateral tonic-clonic seizure
29078	NDUFAF4	HP:0002151	Increased serum lactate
29078	NDUFAF4	HP:0011923	Decreased activity of mitochondrial complex I
29078	NDUFAF4	HP:0003577	Congenital onset
29078	NDUFAF4	HP:0002240	Hepatomegaly
29078	NDUFAF4	HP:0003542	Increased serum pyruvate
29078	NDUFAF4	HP:0011968	Feeding difficulties
29078	NDUFAF4	HP:0008316	Abnormal mitochondria in muscle tissue
29078	NDUFAF4	HP:0002352	Leukoencephalopathy
29078	NDUFAF4	HP:0000639	Nystagmus
29078	NDUFAF4	HP:0000648	Optic atrophy
29078	NDUFAF4	HP:0000618	Blindness
29078	NDUFAF4	HP:0001943	Hypoglycemia
29078	NDUFAF4	HP:0001942	Metabolic acidosis
29078	NDUFAF4	HP:0012748	Focal T2 hyperintense brainstem lesion
29078	NDUFAF4	HP:0000737	Irritability
29078	NDUFAF4	HP:0003198	Myopathy
29078	NDUFAF4	HP:0003128	Lactic acidosis
29078	NDUFAF4	HP:0000819	Diabetes mellitus
29078	NDUFAF4	HP:0000817	Reduced eye contact
29078	NDUFAF4	HP:0007704	Paroxysmal involuntary eye movements
29078	NDUFAF4	HP:0002808	Kyphosis
29078	NDUFAF4	HP:0000252	Microcephaly
29078	NDUFAF4	HP:0001508	Failure to thrive
29078	NDUFAF4	HP:0001511	Intrauterine growth retardation
29078	NDUFAF4	HP:0000365	Hearing impairment
29078	NDUFAF4	HP:0001639	Hypertrophic cardiomyopathy
29078	NDUFAF4	HP:0000407	Sensorineural hearing impairment
29078	NDUFAF4	HP:0000486	Strabismus
29078	NDUFAF4	HP:0000508	Ptosis
29078	NDUFAF4	HP:0000543	Optic disc pallor
29081	METTL5	HP:0010864	Intellectual disability, severe
29081	METTL5	HP:0001290	Generalized hypotonia
29081	METTL5	HP:0001274	Agenesis of corpus callosum
29081	METTL5	HP:0001250	Seizure
29081	METTL5	HP:0001263	Global developmental delay
29081	METTL5	HP:0001257	Spasticity
29081	METTL5	HP:0007333	Hypoplasia of the frontal lobes
29081	METTL5	HP:0000076	Vesicoureteral reflux
29081	METTL5	HP:0001347	Hyperreflexia
29081	METTL5	HP:0000007	Autosomal recessive inheritance
29081	METTL5	HP:0001302	Pachygyria
29081	METTL5	HP:0000122	Unilateral renal agenesis
29081	METTL5	HP:0002119	Ventriculomegaly
29081	METTL5	HP:0011833	Overhanging nasal tip
29081	METTL5	HP:0002282	Gray matter heterotopia
29081	METTL5	HP:0007018	Attention deficit hyperactivity disorder
29081	METTL5	HP:0004325	Decreased body weight
29081	METTL5	HP:0004322	Short stature
29081	METTL5	HP:0000750	Delayed speech and language development
29081	METTL5	HP:0000718	Aggressive behavior
29081	METTL5	HP:0000729	Autistic behavior
29081	METTL5	HP:0003103	Abnormal cortical bone morphology
29081	METTL5	HP:0012811	Wide nasal ridge
29081	METTL5	HP:0012810	Wide nasal base
29081	METTL5	HP:0012809	Narrow nasal base
29081	METTL5	HP:0000252	Microcephaly
29081	METTL5	HP:0000219	Thin upper lip vermilion
29081	METTL5	HP:0001510	Growth delay
29081	METTL5	HP:0000358	Posteriorly rotated ears
29081	METTL5	HP:0000369	Low-set ears
29081	METTL5	HP:0000340	Sloping forehead
29081	METTL5	HP:0000343	Long philtrum
29081	METTL5	HP:0001684	Secundum atrial septal defect
29081	METTL5	HP:0000400	Macrotia
29081	METTL5	HP:0000486	Strabismus
29081	METTL5	HP:0000455	Broad nasal tip
29081	METTL5	HP:0000448	Prominent nose
29081	METTL5	HP:0000582	Upslanted palpebral fissure
29089	UBE2T	HP:0001172	Abnormal thumb morphology
29089	UBE2T	HP:0009942	Duplication of thumb phalanx
29089	UBE2T	HP:0001199	Triphalangeal thumb
29089	UBE2T	HP:0008572	External ear malformation
29089	UBE2T	HP:0002414	Spina bifida
29089	UBE2T	HP:0001249	Intellectual disability
29089	UBE2T	HP:0001263	Global developmental delay
29089	UBE2T	HP:0002575	Tracheoesophageal fistula
29089	UBE2T	HP:0006101	Finger syndactyly
29089	UBE2T	HP:0007400	Irregular hyperpigmentation
29089	UBE2T	HP:0100867	Duodenal stenosis
29089	UBE2T	HP:0008678	Renal hypoplasia/aplasia
29089	UBE2T	HP:0000083	Renal insufficiency
29089	UBE2T	HP:0001392	Abnormality of the liver
29089	UBE2T	HP:0000079	Abnormality of the urinary system
29089	UBE2T	HP:0000072	Hydroureter
29089	UBE2T	HP:0012041	Decreased fertility in males
29089	UBE2T	HP:0000047	Hypospadias
29089	UBE2T	HP:0001347	Hyperreflexia
29089	UBE2T	HP:0000035	Abnormal testis morphology
29089	UBE2T	HP:0000028	Cryptorchidism
29089	UBE2T	HP:0000027	Azoospermia
29089	UBE2T	HP:0007565	Multiple cafe-au-lait spots
29089	UBE2T	HP:0002664	Neoplasm
29089	UBE2T	HP:0000010	Recurrent urinary tract infections
29089	UBE2T	HP:0000007	Autosomal recessive inheritance
29089	UBE2T	HP:0002650	Scoliosis
29089	UBE2T	HP:0000175	Cleft palate
29089	UBE2T	HP:0000135	Hypogonadism
29089	UBE2T	HP:0006265	Aplasia/Hypoplasia of fingers
29089	UBE2T	HP:0000130	Abnormality of the uterus
29089	UBE2T	HP:0002023	Anal atresia
29089	UBE2T	HP:0002007	Frontal bossing
29089	UBE2T	HP:0100542	Abnormal localization of kidney
29089	UBE2T	HP:0100587	Abnormal preputium morphology
29089	UBE2T	HP:0010469	Absent testis
29089	UBE2T	HP:0002119	Ventriculomegaly
29089	UBE2T	HP:0002245	Meckel diverticulum
29089	UBE2T	HP:0003577	Congenital onset
29089	UBE2T	HP:0002251	Aganglionic megacolon
29089	UBE2T	HP:0100760	Clubbing of toes
29089	UBE2T	HP:0010628	Facial palsy
29089	UBE2T	HP:0004808	Acute myeloid leukemia
29089	UBE2T	HP:0001053	Hypopigmented skin patches
29089	UBE2T	HP:0001000	Abnormality of skin pigmentation
29089	UBE2T	HP:0009778	Short thumb
29089	UBE2T	HP:0005528	Bone marrow hypocellularity
29089	UBE2T	HP:0004209	Clinodactyly of the 5th finger
29089	UBE2T	HP:0005522	Pyridoxine-responsive sideroblastic anemia
29089	UBE2T	HP:0006824	Cranial nerve paralysis
29089	UBE2T	HP:0000639	Nystagmus
29089	UBE2T	HP:0001903	Anemia
29089	UBE2T	HP:0012639	Abnormal nervous system morphology
29089	UBE2T	HP:0004322	Short stature
29089	UBE2T	HP:0003022	Hypoplasia of the ulna
29089	UBE2T	HP:0004349	Reduced bone mineral density
29089	UBE2T	HP:0012745	Short palpebral fissure
29089	UBE2T	HP:0100026	Arteriovenous malformation
29089	UBE2T	HP:0000864	Abnormality of the hypothalamus-pituitary axis
29089	UBE2T	HP:0000813	Bicornuate uterus
29089	UBE2T	HP:0010293	Aplasia/Hypoplasia of the uvula
29089	UBE2T	HP:0040071	Abnormal morphology of ulna
29089	UBE2T	HP:0003220	Abnormality of chromosome stability
29089	UBE2T	HP:0003221	Chromosomal breakage induced by crosslinking agents
29089	UBE2T	HP:0008053	Aplasia/Hypoplasia of the iris
29089	UBE2T	HP:0000286	Epicanthus
29089	UBE2T	HP:0000268	Dolichocephaly
29089	UBE2T	HP:0002817	Abnormality of the upper limb
29089	UBE2T	HP:0002827	Hip dislocation
29089	UBE2T	HP:0002823	Abnormality of femur morphology
29089	UBE2T	HP:0000238	Hydrocephalus
29089	UBE2T	HP:0000252	Microcephaly
29089	UBE2T	HP:0012210	Abnormal renal morphology
29089	UBE2T	HP:0000218	High palate
29089	UBE2T	HP:0001562	Oligohydramnios
29089	UBE2T	HP:0001537	Umbilical hernia
29089	UBE2T	HP:0002863	Myelodysplasia
29089	UBE2T	HP:0001511	Intrauterine growth retardation
29089	UBE2T	HP:0001510	Growth delay
29089	UBE2T	HP:0006501	Aplasia/Hypoplasia of the radius
29089	UBE2T	HP:0007874	Almond-shaped palpebral fissure
29089	UBE2T	HP:0000365	Hearing impairment
29089	UBE2T	HP:0000364	Hearing abnormality
29089	UBE2T	HP:0001671	Abnormal cardiac septum morphology
29089	UBE2T	HP:0000340	Sloping forehead
29089	UBE2T	HP:0001679	Abnormal aortic morphology
29089	UBE2T	HP:0000347	Micrognathia
29089	UBE2T	HP:0000316	Hypertelorism
29089	UBE2T	HP:0001646	Abnormal aortic valve morphology
29089	UBE2T	HP:0001643	Patent ductus arteriosus
29089	UBE2T	HP:0000324	Facial asymmetry
29089	UBE2T	HP:0001639	Hypertrophic cardiomyopathy
29089	UBE2T	HP:0001636	Tetralogy of Fallot
29089	UBE2T	HP:0001631	Atrial septal defect
29089	UBE2T	HP:0005344	Abnormal carotid artery morphology
29089	UBE2T	HP:0000483	Astigmatism
29089	UBE2T	HP:0000486	Strabismus
29089	UBE2T	HP:0000478	Abnormality of the eye
29089	UBE2T	HP:0000492	Abnormal eyelid morphology
29089	UBE2T	HP:0001770	Toe syndactyly
29089	UBE2T	HP:0001763	Pes planus
29089	UBE2T	HP:0000453	Choanal atresia
29089	UBE2T	HP:0001760	Abnormal foot morphology
29089	UBE2T	HP:0000518	Cataract
29089	UBE2T	HP:0000520	Proptosis
29089	UBE2T	HP:0001824	Weight loss
29089	UBE2T	HP:0000508	Ptosis
29089	UBE2T	HP:0000505	Visual impairment
29089	UBE2T	HP:0000504	Abnormality of vision
29089	UBE2T	HP:0000582	Upslanted palpebral fissure
29089	UBE2T	HP:0000568	Microphthalmia
29089	UBE2T	HP:0001871	Abnormality of blood and blood-forming tissues
29089	UBE2T	HP:0001882	Leukopenia
29089	UBE2T	HP:0001873	Thrombocytopenia
29089	UBE2T	HP:0001876	Pancytopenia
29098	RANGRF	HP:0001279	Syncope
29098	RANGRF	HP:0011715	Trifascicular block
29098	RANGRF	HP:0011712	Right bundle branch block
29098	RANGRF	HP:0011704	Sick sinus syndrome
29098	RANGRF	HP:0011705	First degree atrioventricular block
29098	RANGRF	HP:0004755	Supraventricular tachycardia
29098	RANGRF	HP:0004751	Paroxysmal ventricular tachycardia
29098	RANGRF	HP:0004308	Ventricular arrhythmia
29098	RANGRF	HP:0012251	ST segment elevation
29098	RANGRF	HP:0001695	Cardiac arrest
29098	RANGRF	HP:0001649	Tachycardia
29098	RANGRF	HP:0001663	Ventricular fibrillation
29110	TBK1	HP:0025143	Chills
29110	TBK1	HP:0002463	Language impairment
29110	TBK1	HP:0002460	Distal muscle weakness
29110	TBK1	HP:0002442	Dyscalculia
29110	TBK1	HP:0008619	Bilateral sensorineural hearing impairment
29110	TBK1	HP:0003701	Proximal muscle weakness
29110	TBK1	HP:0003700	Generalized amyotrophy
29110	TBK1	HP:0001269	Hemiparesis
29110	TBK1	HP:0001268	Mental deterioration
29110	TBK1	HP:0001287	Meningitis
29110	TBK1	HP:0001289	Confusion
29110	TBK1	HP:0001283	Bulbar palsy
29110	TBK1	HP:0001254	Lethargy
29110	TBK1	HP:0001250	Seizure
29110	TBK1	HP:0001265	Hyporeflexia
29110	TBK1	HP:0001260	Dysarthria
29110	TBK1	HP:0001262	Excessive daytime somnolence
29110	TBK1	HP:0001257	Spasticity
29110	TBK1	HP:0001259	Coma
29110	TBK1	HP:0007373	Motor neuron atrophy
29110	TBK1	HP:0007354	Amyotrophic lateral sclerosis
29110	TBK1	HP:0003829	Typified by incomplete penetrance
29110	TBK1	HP:0001347	Hyperreflexia
29110	TBK1	HP:0031179	Nuchal rigidity
29110	TBK1	HP:0001324	Muscle weakness
29110	TBK1	HP:0000006	Autosomal dominant inheritance
29110	TBK1	HP:0001300	Parkinsonism
29110	TBK1	HP:0025425	Laryngospasm
29110	TBK1	HP:0002795	Abnormal respiratory system physiology
29110	TBK1	HP:0002721	Immunodeficiency
29110	TBK1	HP:0002017	Nausea and vomiting
29110	TBK1	HP:0002015	Dysphagia
29110	TBK1	HP:0003324	Generalized muscle weakness
29110	TBK1	HP:0002094	Dyspnea
29110	TBK1	HP:0003394	Muscle spasm
29110	TBK1	HP:0002073	Progressive cerebellar ataxia
29110	TBK1	HP:0002071	Abnormality of extrapyramidal motor function
29110	TBK1	HP:0030955	Alcoholism
29110	TBK1	HP:0002145	Frontotemporal dementia
29110	TBK1	HP:0003470	Paralysis
29110	TBK1	HP:0003487	Babinski sign
29110	TBK1	HP:0002120	Cerebral cortical atrophy
29110	TBK1	HP:0002133	Status epilepticus
29110	TBK1	HP:0002127	Abnormal upper motor neuron morphology
29110	TBK1	HP:0002186	Apraxia
29110	TBK1	HP:0002180	Neurodegeneration
29110	TBK1	HP:0002181	Cerebral edema
29110	TBK1	HP:0002167	Abnormality of speech or vocalization
29110	TBK1	HP:0002171	Gliosis
29110	TBK1	HP:0011897	Neutrophilia
29110	TBK1	HP:0010549	Weakness due to upper motor neuron dysfunction
29110	TBK1	HP:0003596	Middle age onset
29110	TBK1	HP:0003593	Infantile onset
29110	TBK1	HP:0002273	Tetraparesis
29110	TBK1	HP:0003581	Adult onset
29110	TBK1	HP:0004887	Respiratory failure requiring assisted ventilation
29110	TBK1	HP:0200149	CSF lymphocytic pleiocytosis
29110	TBK1	HP:0002283	Global brain atrophy
29110	TBK1	HP:0011972	Hypoglycorrhachia
29110	TBK1	HP:0008322	Abnormal mitochondrial morphology
29110	TBK1	HP:0002384	Focal impaired awareness seizure
29110	TBK1	HP:0002385	Paraparesis
29110	TBK1	HP:0002380	Fasciculations
29110	TBK1	HP:0002366	Abnormal lower motor neuron morphology
29110	TBK1	HP:0003676	Progressive
29110	TBK1	HP:0002353	EEG abnormality
29110	TBK1	HP:0002349	Focal aware seizure
29110	TBK1	HP:0002315	Headache
29110	TBK1	HP:0002314	Degeneration of the lateral corticospinal tracts
29110	TBK1	HP:0002300	Mutism
29110	TBK1	HP:0003621	Juvenile onset
29110	TBK1	HP:0007190	Neuronal loss in the cerebral cortex
29110	TBK1	HP:0007185	Loss of consciousness
29110	TBK1	HP:0001974	Leukocytosis
29110	TBK1	HP:0001945	Fever
29110	TBK1	HP:0000605	Supranuclear gaze palsy
29110	TBK1	HP:0004302	Functional motor deficit
29110	TBK1	HP:0004372	Reduced consciousness/confusion
29110	TBK1	HP:0000751	Personality changes
29110	TBK1	HP:0000738	Hallucinations
29110	TBK1	HP:0000739	Anxiety
29110	TBK1	HP:0000734	Disinhibition
29110	TBK1	HP:0000741	Apathy
29110	TBK1	HP:0000716	Depression
29110	TBK1	HP:0000712	Emotional lability
29110	TBK1	HP:0000713	Agitation
29110	TBK1	HP:0000708	Atypical behavior
29110	TBK1	HP:0003202	Skeletal muscle atrophy
29110	TBK1	HP:0000217	Xerostomia
29110	TBK1	HP:0002878	Respiratory failure
29110	TBK1	HP:0012378	Fatigue
29110	TBK1	HP:0030196	Fatigable weakness of respiratory muscles
29110	TBK1	HP:0030195	Fatigable weakness of swallowing muscles
29110	TBK1	HP:0030192	Fatigable weakness of bulbar muscles
29110	TBK1	HP:0002922	Increased CSF protein concentration
29110	TBK1	HP:0002902	Hyponatremia
29110	TBK1	HP:0012302	Herpes simplex encephalitis
29110	TBK1	HP:0030223	Manifestations of perseverative thought or action
29110	TBK1	HP:0012443	Abnormality of brain morphology
29110	TBK1	HP:0000508	Ptosis
29110	TBK1	HP:0011227	Elevated circulating C-reactive protein concentration
29110	TBK1	HP:0012531	Pain
29119	CTNNA3	HP:0000006	Autosomal dominant inheritance
29119	CTNNA3	HP:0011713	Left bundle branch block
29119	CTNNA3	HP:0011705	First degree atrioventricular block
29119	CTNNA3	HP:0004756	Ventricular tachycardia
29119	CTNNA3	HP:0003621	Juvenile onset
29119	CTNNA3	HP:0005133	Right ventricular dilatation
29123	ANKRD11	HP:0001159	Syndactyly
29123	ANKRD11	HP:0001250	Seizure
29123	ANKRD11	HP:0001249	Intellectual disability
29123	ANKRD11	HP:0001263	Global developmental delay
29123	ANKRD11	HP:0002553	Highly arched eyebrow
29123	ANKRD11	HP:0000039	Epispadias
29123	ANKRD11	HP:0001385	Hip dysplasia
29123	ANKRD11	HP:0000028	Cryptorchidism
29123	ANKRD11	HP:0000006	Autosomal dominant inheritance
29123	ANKRD11	HP:0002650	Scoliosis
29123	ANKRD11	HP:0000175	Cleft palate
29123	ANKRD11	HP:0000154	Wide mouth
29123	ANKRD11	HP:0006315	Solitary median maxillary central incisor
29123	ANKRD11	HP:0002750	Delayed skeletal maturation
29123	ANKRD11	HP:0002015	Dysphagia
29123	ANKRD11	HP:0002007	Frontal bossing
29123	ANKRD11	HP:0002079	Hypoplasia of the corpus callosum
29123	ANKRD11	HP:0009464	Ulnar deviation of the 2nd finger
29123	ANKRD11	HP:0009466	Radial deviation of finger
29123	ANKRD11	HP:0002119	Ventriculomegaly
29123	ANKRD11	HP:0009623	Proximal placement of thumb
29123	ANKRD11	HP:0002162	Low posterior hairline
29123	ANKRD11	HP:0011842	Abnormal skeletal morphology
29123	ANKRD11	HP:0010720	Abnormal hair pattern
29123	ANKRD11	HP:0007018	Attention deficit hyperactivity disorder
29123	ANKRD11	HP:0011968	Feeding difficulties
29123	ANKRD11	HP:0002342	Intellectual disability, moderate
29123	ANKRD11	HP:0002353	EEG abnormality
29123	ANKRD11	HP:0008513	Bilateral conductive hearing impairment
29123	ANKRD11	HP:0010804	Tented upper lip vermilion
29123	ANKRD11	HP:0007165	Periventricular heterotopia
29123	ANKRD11	HP:0008438	Vertebral arch anomaly
29123	ANKRD11	HP:0004209	Clinodactyly of the 5th finger
29123	ANKRD11	HP:0005518	Increased mean corpuscular volume
29123	ANKRD11	HP:0004279	Short palm
29123	ANKRD11	HP:0000639	Nystagmus
29123	ANKRD11	HP:0000637	Long palpebral fissure
29123	ANKRD11	HP:0000609	Optic nerve hypoplasia
29123	ANKRD11	HP:0000677	Oligodontia
29123	ANKRD11	HP:0000664	Synophrys
29123	ANKRD11	HP:0004322	Short stature
29123	ANKRD11	HP:0012725	Cutaneous syndactyly
29123	ANKRD11	HP:0000750	Delayed speech and language development
29123	ANKRD11	HP:0000717	Autism
29123	ANKRD11	HP:0004422	Biparietal narrowing
29123	ANKRD11	HP:0000902	Rib fusion
29123	ANKRD11	HP:0004474	Persistent open anterior fontanelle
29123	ANKRD11	HP:0000891	Cervical ribs
29123	ANKRD11	HP:0040019	Finger clinodactyly
29123	ANKRD11	HP:0000954	Single transverse palmar crease
29123	ANKRD11	HP:0045017	Congenital malformation of the left heart
29123	ANKRD11	HP:0000294	Low anterior hairline
29123	ANKRD11	HP:0000276	Long face
29123	ANKRD11	HP:0002808	Kyphosis
29123	ANKRD11	HP:0001572	Macrodontia
29123	ANKRD11	HP:0001566	Widely-spaced maxillary central incisors
29123	ANKRD11	HP:0000252	Microcephaly
29123	ANKRD11	HP:0000248	Brachycephaly
29123	ANKRD11	HP:0000219	Thin upper lip vermilion
29123	ANKRD11	HP:0000218	High palate
29123	ANKRD11	HP:0030048	Colpocephaly
29123	ANKRD11	HP:0000384	Preauricular skin tag
29123	ANKRD11	HP:0000389	Chronic otitis media
29123	ANKRD11	HP:0002948	Vertebral fusion
29123	ANKRD11	HP:0002942	Thoracic kyphosis
29123	ANKRD11	HP:0000365	Hearing impairment
29123	ANKRD11	HP:0000358	Posteriorly rotated ears
29123	ANKRD11	HP:0000343	Long philtrum
29123	ANKRD11	HP:0000348	High forehead
29123	ANKRD11	HP:0000347	Micrognathia
29123	ANKRD11	HP:0000319	Smooth philtrum
29123	ANKRD11	HP:0000316	Hypertelorism
29123	ANKRD11	HP:0000311	Round face
29123	ANKRD11	HP:0001644	Dilated cardiomyopathy
29123	ANKRD11	HP:0001653	Mitral regurgitation
29123	ANKRD11	HP:0000325	Triangular face
29123	ANKRD11	HP:0001629	Ventricular septal defect
29123	ANKRD11	HP:0000307	Pointed chin
29123	ANKRD11	HP:0000400	Macrotia
29123	ANKRD11	HP:0000483	Astigmatism
29123	ANKRD11	HP:0000486	Strabismus
29123	ANKRD11	HP:0012471	Thick vermilion border
29123	ANKRD11	HP:0000494	Downslanted palpebral fissures
29123	ANKRD11	HP:0000463	Anteverted nares
29123	ANKRD11	HP:0000470	Short neck
29123	ANKRD11	HP:0000465	Webbed neck
29123	ANKRD11	HP:0000411	Protruding ear
29123	ANKRD11	HP:0000430	Underdeveloped nasal alae
29123	ANKRD11	HP:0000426	Prominent nasal bridge
29123	ANKRD11	HP:0000506	Telecanthus
29123	ANKRD11	HP:0000508	Ptosis
29123	ANKRD11	HP:0000505	Visual impairment
29123	ANKRD11	HP:0000582	Upslanted palpebral fissure
29123	ANKRD11	HP:0000574	Thick eyebrow
29123	ANKRD11	HP:0001873	Thrombocytopenia
29123	ANKRD11	HP:0000545	Myopia
29127	RACGAP1	HP:0025196	Increased total iron binding capacity
29127	RACGAP1	HP:0025354	Abnormal cellular phenotype
29127	RACGAP1	HP:0000007	Autosomal recessive inheritance
29127	RACGAP1	HP:0012130	Abnormal erythroid lineage cell morphology
29127	RACGAP1	HP:0003452	Increased serum iron
29127	RACGAP1	HP:0011891	Post-partum hemorrhage
29127	RACGAP1	HP:0002249	Melena
29127	RACGAP1	HP:0002315	Headache
29127	RACGAP1	HP:0025035	Abnormal proerythroblast morphology
29127	RACGAP1	HP:0005532	Macrocytic dyserythropoietic anemia
29127	RACGAP1	HP:0005518	Increased mean corpuscular volume
29127	RACGAP1	HP:0001972	Macrocytic anemia
29127	RACGAP1	HP:0001903	Anemia
29127	RACGAP1	HP:0004322	Short stature
29127	RACGAP1	HP:0011463	Childhood onset
29127	RACGAP1	HP:0004447	Poikilocytosis
29127	RACGAP1	HP:0000980	Pallor
29127	RACGAP1	HP:0000225	Gingival bleeding
29127	RACGAP1	HP:0012378	Fatigue
29127	RACGAP1	HP:0002910	Elevated hepatic transaminase
29127	RACGAP1	HP:0002904	Hyperbilirubinemia
29127	RACGAP1	HP:0030140	Oral cavity bleeding
29127	RACGAP1	HP:0011273	Anisocytosis
29127	RACGAP1	HP:0001877	Abnormal erythrocyte morphology
29760	BLNK	HP:0008572	External ear malformation
29760	BLNK	HP:0100806	Sepsis
29760	BLNK	HP:0001287	Meningitis
29760	BLNK	HP:0001369	Arthritis
29760	BLNK	HP:0000007	Autosomal recessive inheritance
29760	BLNK	HP:0012115	Hepatitis
29760	BLNK	HP:0002754	Osteomyelitis
29760	BLNK	HP:0002719	Recurrent infections
29760	BLNK	HP:0002718	Recurrent bacterial infections
29760	BLNK	HP:0002720	Decreased circulating IgA level
29760	BLNK	HP:0002721	Immunodeficiency
29760	BLNK	HP:0002024	Malabsorption
29760	BLNK	HP:0002014	Diarrhea
29760	BLNK	HP:0002110	Bronchiectasis
29760	BLNK	HP:0003593	Infantile onset
29760	BLNK	HP:0002243	Protein-losing enteropathy
29760	BLNK	HP:0002205	Recurrent respiratory infections
29760	BLNK	HP:0100658	Cellulitis
29760	BLNK	HP:0200043	Verrucae
29760	BLNK	HP:0001944	Dehydration
29760	BLNK	HP:0001945	Fever
29760	BLNK	HP:0004315	Decreased circulating IgG level
29760	BLNK	HP:0012735	Cough
29760	BLNK	HP:0004432	Agammaglobulinemia
29760	BLNK	HP:0000988	Skin rash
29760	BLNK	HP:0000286	Epicanthus
29760	BLNK	HP:0001581	Recurrent skin infections
29760	BLNK	HP:0000246	Sinusitis
29760	BLNK	HP:0000218	High palate
29760	BLNK	HP:0001508	Failure to thrive
29760	BLNK	HP:0002850	Decreased circulating total IgM
29760	BLNK	HP:0002843	Abnormal T cell morphology
29760	BLNK	HP:0012378	Fatigue
29760	BLNK	HP:0000389	Chronic otitis media
29760	BLNK	HP:0006532	Recurrent pneumonia
29760	BLNK	HP:0000316	Hypertelorism
29760	BLNK	HP:0000403	Recurrent otitis media
29760	BLNK	HP:0011109	Chronic sinusitis
29760	BLNK	HP:0000509	Conjunctivitis
29760	BLNK	HP:0001875	Neutropenia
29775	CARD10	HP:0000007	Autosomal recessive inheritance
29775	CARD10	HP:0032446	Pulmonary bulla
29775	CARD10	HP:0002783	Recurrent lower respiratory tract infections
29775	CARD10	HP:0002099	Asthma
29775	CARD10	HP:0002110	Bronchiectasis
29775	CARD10	HP:0003493	Antinuclear antibody positivity
29775	CARD10	HP:0003565	Elevated erythrocyte sedimentation rate
29775	CARD10	HP:0032069	Anti-thyroglobulin antibody positivity
29775	CARD10	HP:0004840	Hypochromic microcytic anemia
29775	CARD10	HP:0003621	Juvenile onset
29775	CARD10	HP:0031891	Decreased eosinophil count
29775	CARD10	HP:0031944	Pleural thickening
29775	CARD10	HP:0034163	Reduced circulating interleukin 10 concentration
29775	CARD10	HP:0034165	Reduced circulating interleukin 21 concentration
29775	CARD10	HP:0034168	Reduced circulating interleukin 22 concentration
29775	CARD10	HP:0034174	Reduced circulating interleukin 27 concentration
29775	CARD10	HP:0034177	Reduced circulating interleukin 17A concentration
29775	CARD10	HP:0034171	Reduced circulating interleukin 23 concentration
29775	CARD10	HP:0003237	Increased circulating IgG level
29775	CARD10	HP:0003212	Increased circulating IgE level
29775	CARD10	HP:0003261	Increased circulating IgA level
29775	CARD10	HP:0100280	Crohn's disease
29775	CARD10	HP:0002923	Rheumatoid factor positive
29775	CARD10	HP:0011227	Elevated circulating C-reactive protein concentration
29851	ICOS	HP:0001287	Meningitis
29851	ICOS	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine
29851	ICOS	HP:0010976	B lymphocytopenia
29851	ICOS	HP:0001392	Abnormality of the liver
29851	ICOS	HP:0002664	Neoplasm
29851	ICOS	HP:0000007	Autosomal recessive inheritance
29851	ICOS	HP:0002665	Lymphoma
29851	ICOS	HP:0000006	Autosomal dominant inheritance
29851	ICOS	HP:0002633	Vasculitis
29851	ICOS	HP:0002718	Recurrent bacterial infections
29851	ICOS	HP:0002716	Lymphadenopathy
29851	ICOS	HP:0002729	Follicular hyperplasia
29851	ICOS	HP:0002720	Decreased circulating IgA level
29851	ICOS	HP:0002721	Immunodeficiency
29851	ICOS	HP:0002023	Anal atresia
29851	ICOS	HP:0002014	Diarrhea
29851	ICOS	HP:0002097	Emphysema
29851	ICOS	HP:0002090	Pneumonia
29851	ICOS	HP:0002091	Restrictive ventilatory defect
29851	ICOS	HP:0002110	Bronchiectasis
29851	ICOS	HP:0011839	Abnormal T cell count
29851	ICOS	HP:0002240	Hepatomegaly
29851	ICOS	HP:0002205	Recurrent respiratory infections
29851	ICOS	HP:0100723	Gastrointestinal stroma tumor
29851	ICOS	HP:0001973	Autoimmune thrombocytopenia
29851	ICOS	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
29851	ICOS	HP:0004315	Decreased circulating IgG level
29851	ICOS	HP:0004313	Decreased circulating antibody level
29851	ICOS	HP:0011463	Childhood onset
29851	ICOS	HP:0011462	Young adult onset
29851	ICOS	HP:0000979	Purpura
29851	ICOS	HP:0002829	Arthralgia
29851	ICOS	HP:0000248	Brachycephaly
29851	ICOS	HP:0001531	Failure to thrive in infancy
29851	ICOS	HP:0002837	Recurrent bronchitis
29851	ICOS	HP:0002850	Decreased circulating total IgM
29851	ICOS	HP:0000389	Chronic otitis media
29851	ICOS	HP:0000388	Otitis media
29851	ICOS	HP:0006532	Recurrent pneumonia
29851	ICOS	HP:0002910	Elevated hepatic transaminase
29851	ICOS	HP:0002960	Autoimmunity
29851	ICOS	HP:0005387	Combined immunodeficiency
29851	ICOS	HP:0000403	Recurrent otitis media
29851	ICOS	HP:0011108	Recurrent sinusitis
29851	ICOS	HP:0001744	Splenomegaly
29851	ICOS	HP:0006783	Posterior pharyngeal cleft
29851	ICOS	HP:0005435	Impaired T cell function
29851	ICOS	HP:0000509	Conjunctivitis
29851	ICOS	HP:0001888	Lymphopenia
29851	ICOS	HP:0030388	Decreased proportion of class-switched memory B cells
29851	ICOS	HP:0001878	Hemolytic anemia
29880	ALG5	HP:0003774	Stage 5 chronic kidney disease
29880	ALG5	HP:0000083	Renal insufficiency
29880	ALG5	HP:0000010	Recurrent urinary tract infections
29880	ALG5	HP:0000006	Autosomal dominant inheritance
29880	ALG5	HP:0002616	Aortic root aneurysm
29880	ALG5	HP:0000107	Renal cyst
29880	ALG5	HP:0000105	Enlarged kidney
29880	ALG5	HP:0001407	Hepatic cysts
29880	ALG5	HP:0011760	Pituitary growth hormone cell adenoma
29880	ALG5	HP:0100702	Arachnoid cyst
29880	ALG5	HP:0003581	Adult onset
29880	ALG5	HP:0004944	Dilatation of the cerebral artery
29880	ALG5	HP:0005562	Multiple renal cysts
29880	ALG5	HP:0012622	Chronic kidney disease
29880	ALG5	HP:0000790	Hematuria
29880	ALG5	HP:0000787	Nephrolithiasis
29880	ALG5	HP:0000822	Hypertension
29880	ALG5	HP:0003259	Elevated circulating creatinine concentration
29880	ALG5	HP:0012213	Decreased glomerular filtration rate
29880	ALG5	HP:0012207	Reduced sperm motility
29880	ALG5	HP:0006557	Polycystic liver disease
29880	ALG5	HP:0011004	Abnormal systemic arterial morphology
29880	ALG5	HP:0012330	Pyelonephritis
29880	ALG5	HP:0001634	Mitral valve prolapse
29880	ALG5	HP:0032948	Renal interstitial fibrosis
29880	ALG5	HP:0001737	Pancreatic cysts
29880	ALG5	HP:0012591	Abnormal urinary electrolyte concentration
29880	ALG5	HP:0012592	Albuminuria
29880	ALG5	HP:0012585	Renal atrophy
29880	ALG5	HP:0012531	Pain
29887	SNX10	HP:0001363	Craniosynostosis
29887	SNX10	HP:0000007	Autosomal recessive inheritance
29887	SNX10	HP:0001337	Tremor
29887	SNX10	HP:0002653	Bone pain
29887	SNX10	HP:0006323	Premature loss of primary teeth
29887	SNX10	HP:0002757	Recurrent fractures
29887	SNX10	HP:0002716	Lymphadenopathy
29887	SNX10	HP:0002007	Frontal bossing
29887	SNX10	HP:0002092	Pulmonary arterial hypertension
29887	SNX10	HP:0005930	Abnormal epiphysis morphology
29887	SNX10	HP:0002148	Hypophosphatemia
29887	SNX10	HP:0002104	Apnea
29887	SNX10	HP:0010543	Opsoclonus
29887	SNX10	HP:0003593	Infantile onset
29887	SNX10	HP:0002240	Hepatomegaly
29887	SNX10	HP:0002257	Chronic rhinitis
29887	SNX10	HP:0002205	Recurrent respiratory infections
29887	SNX10	HP:0010719	Abnormality of hair texture
29887	SNX10	HP:0011968	Feeding difficulties
29887	SNX10	HP:0010628	Facial palsy
29887	SNX10	HP:0006824	Cranial nerve paralysis
29887	SNX10	HP:0000639	Nystagmus
29887	SNX10	HP:0000649	Abnormality of visual evoked potentials
29887	SNX10	HP:0000648	Optic atrophy
29887	SNX10	HP:0001939	Abnormality of metabolism/homeostasis
29887	SNX10	HP:0001903	Anemia
29887	SNX10	HP:0000684	Delayed eruption of teeth
29887	SNX10	HP:0004370	Abnormality of temperature regulation
29887	SNX10	HP:0004349	Reduced bone mineral density
29887	SNX10	HP:0000772	Abnormal rib morphology
29887	SNX10	HP:0100022	Abnormality of movement
29887	SNX10	HP:0011480	Unilateral microphthalmos
29887	SNX10	HP:0011463	Childhood onset
29887	SNX10	HP:0000774	Narrow chest
29887	SNX10	HP:0004415	Pulmonary artery stenosis
29887	SNX10	HP:0000980	Pallor
29887	SNX10	HP:0000978	Bruising susceptibility
29887	SNX10	HP:0000944	Abnormal metaphysis morphology
29887	SNX10	HP:0008066	Abnormal blistering of the skin
29887	SNX10	HP:0000256	Macrocephaly
29887	SNX10	HP:0000238	Hydrocephalus
29887	SNX10	HP:0001508	Failure to thrive
29887	SNX10	HP:0001510	Growth delay
29887	SNX10	HP:0007807	Optic nerve compression
29887	SNX10	HP:0000388	Otitis media
29887	SNX10	HP:0002901	Hypocalcemia
29887	SNX10	HP:0006487	Bowing of the long bones
29887	SNX10	HP:0000365	Hearing impairment
29887	SNX10	HP:0011002	Osteopetrosis
29887	SNX10	HP:0001641	Abnormal pulmonary valve morphology
29887	SNX10	HP:0001744	Splenomegaly
29887	SNX10	HP:0000505	Visual impairment
29887	SNX10	HP:0000572	Visual loss
29887	SNX10	HP:0001873	Thrombocytopenia
29893	PSMC3IP	HP:0001166	Arachnodactyly
29893	PSMC3IP	HP:0009888	Abnormality of secondary sexual hair
29893	PSMC3IP	HP:0001251	Ataxia
29893	PSMC3IP	HP:0008684	Aplasia/hypoplasia of the uterus
29893	PSMC3IP	HP:0000062	Ambiguous genitalia
29893	PSMC3IP	HP:0000007	Autosomal recessive inheritance
29893	PSMC3IP	HP:0000144	Decreased fertility
29893	PSMC3IP	HP:0000133	Gonadal dysgenesis
29893	PSMC3IP	HP:0002750	Delayed skeletal maturation
29893	PSMC3IP	HP:0010464	Streak ovary
29893	PSMC3IP	HP:0010463	Aplasia of the ovary
29893	PSMC3IP	HP:0008232	Elevated circulating follicle stimulating hormone level
29893	PSMC3IP	HP:0008222	Female infertility
29893	PSMC3IP	HP:0008209	Premature ovarian insufficiency
29893	PSMC3IP	HP:0008214	Decreased serum estradiol
29893	PSMC3IP	HP:0002225	Sparse pubic hair
29893	PSMC3IP	HP:0002206	Pulmonary fibrosis
29893	PSMC3IP	HP:0011969	Elevated circulating luteinizing hormone level
29893	PSMC3IP	HP:0003621	Juvenile onset
29893	PSMC3IP	HP:0001939	Abnormality of metabolism/homeostasis
29893	PSMC3IP	HP:0004322	Short stature
29893	PSMC3IP	HP:0005625	Osteoporosis of vertebrae
29893	PSMC3IP	HP:0004349	Reduced bone mineral density
29893	PSMC3IP	HP:0000786	Primary amenorrhea
29893	PSMC3IP	HP:0000869	Secondary amenorrhea
29893	PSMC3IP	HP:0000837	Increased circulating gonadotropin level
29893	PSMC3IP	HP:0000823	Delayed puberty
29893	PSMC3IP	HP:0010311	Aplasia/Hypoplasia of the breasts
29893	PSMC3IP	HP:0000938	Osteopenia
29893	PSMC3IP	HP:0000252	Microcephaly
29893	PSMC3IP	HP:0000365	Hearing impairment
29894	CPSF1	HP:0000006	Autosomal dominant inheritance
29894	CPSF1	HP:0007800	Increased axial length of the globe
29894	CPSF1	HP:0011003	High myopia
29895	MYL11	HP:0001181	Adducted thumb
29895	MYL11	HP:0010880	Increased nuchal translucency
29895	MYL11	HP:0001239	Wrist flexion contracture
29895	MYL11	HP:0006070	Metacarpophalangeal joint contracture
29895	MYL11	HP:0000028	Cryptorchidism
29895	MYL11	HP:0000007	Autosomal recessive inheritance
29895	MYL11	HP:0000006	Autosomal dominant inheritance
29895	MYL11	HP:0002650	Scoliosis
29895	MYL11	HP:0000193	Bifid uvula
29895	MYL11	HP:0000160	Narrow mouth
29895	MYL11	HP:0000175	Cleft palate
29895	MYL11	HP:0410030	Cleft lip
29895	MYL11	HP:0100490	Camptodactyly of finger
29895	MYL11	HP:0003577	Congenital onset
29895	MYL11	HP:0033357	Limited head rotation
29895	MYL11	HP:0004209	Clinodactyly of the 5th finger
29895	MYL11	HP:0004325	Decreased body weight
29895	MYL11	HP:0004322	Short stature
29895	MYL11	HP:0003044	Shoulder flexion contracture
29895	MYL11	HP:0003273	Hip contracture
29895	MYL11	HP:0000278	Retrognathia
29895	MYL11	HP:0006380	Knee flexion contracture
29895	MYL11	HP:0000218	High palate
29895	MYL11	HP:0000233	Thin vermilion border
29895	MYL11	HP:0000205	Pursed lips
29895	MYL11	HP:0002987	Elbow flexion contracture
29895	MYL11	HP:0000470	Short neck
29895	MYL11	HP:0000466	Limited neck range of motion
29895	MYL11	HP:0001762	Talipes equinovarus
29895	MYL11	HP:0001838	Rocker bottom foot
29895	MYL11	HP:0001836	Camptodactyly of toe
29895	MYL11	HP:0000581	Blepharophimosis
29899	GPSM2	HP:0008625	Severe sensorineural hearing impairment
29899	GPSM2	HP:0001270	Motor delay
29899	GPSM2	HP:0001256	Intellectual disability, mild
29899	GPSM2	HP:0001250	Seizure
29899	GPSM2	HP:0001338	Partial agenesis of the corpus callosum
29899	GPSM2	HP:0000007	Autosomal recessive inheritance
29899	GPSM2	HP:0001321	Cerebellar hypoplasia
29899	GPSM2	HP:0002700	Large foramen magnum
29899	GPSM2	HP:0002079	Hypoplasia of the corpus callosum
29899	GPSM2	HP:0002119	Ventriculomegaly
29899	GPSM2	HP:0002126	Polymicrogyria
29899	GPSM2	HP:0100702	Arachnoid cyst
29899	GPSM2	HP:0002282	Gray matter heterotopia
29899	GPSM2	HP:0007033	Cerebellar dysplasia
29899	GPSM2	HP:0006989	Dysplastic corpus callosum
29899	GPSM2	HP:0000238	Hydrocephalus
29914	UBIAD1	HP:0001131	Corneal dystrophy
29914	UBIAD1	HP:0000006	Autosomal dominant inheritance
29914	UBIAD1	HP:0007760	Crystalline corneal dystrophy
29920	PYCR2	HP:0002487	Hyperkinetic movements
29920	PYCR2	HP:0001166	Arachnodactyly
29920	PYCR2	HP:0002465	Poor speech
29920	PYCR2	HP:0007258	Severe demyelination of the white matter
29920	PYCR2	HP:0010864	Intellectual disability, severe
29920	PYCR2	HP:0002415	Leukodystrophy
29920	PYCR2	HP:0001274	Agenesis of corpus callosum
29920	PYCR2	HP:0001250	Seizure
29920	PYCR2	HP:0001252	Hypotonia
29920	PYCR2	HP:0001251	Ataxia
29920	PYCR2	HP:0001249	Intellectual disability
29920	PYCR2	HP:0001263	Global developmental delay
29920	PYCR2	HP:0001257	Spasticity
29920	PYCR2	HP:0007333	Hypoplasia of the frontal lobes
29920	PYCR2	HP:0002540	Inability to walk
29920	PYCR2	HP:0002509	Limb hypertonia
29920	PYCR2	HP:0000076	Vesicoureteral reflux
29920	PYCR2	HP:0001371	Flexion contracture
29920	PYCR2	HP:0001382	Joint hypermobility
29920	PYCR2	HP:0001347	Hyperreflexia
29920	PYCR2	HP:0001344	Absent speech
29920	PYCR2	HP:0000007	Autosomal recessive inheritance
29920	PYCR2	HP:0001302	Pachygyria
29920	PYCR2	HP:0008936	Axial hypotonia
29920	PYCR2	HP:0000122	Unilateral renal agenesis
29920	PYCR2	HP:0002013	Vomiting
29920	PYCR2	HP:0002069	Bilateral tonic-clonic seizure
29920	PYCR2	HP:0002079	Hypoplasia of the corpus callosum
29920	PYCR2	HP:0002059	Cerebral atrophy
29920	PYCR2	HP:0003487	Babinski sign
29920	PYCR2	HP:0002120	Cerebral cortical atrophy
29920	PYCR2	HP:0002119	Ventriculomegaly
29920	PYCR2	HP:0003429	CNS hypomyelination
29920	PYCR2	HP:0100704	Cerebral visual impairment
29920	PYCR2	HP:0009739	Hypoplasia of the antihelix
29920	PYCR2	HP:0002283	Global brain atrophy
29920	PYCR2	HP:0002282	Gray matter heterotopia
29920	PYCR2	HP:0011968	Feeding difficulties
29920	PYCR2	HP:0002365	Hypoplasia of the brainstem
29920	PYCR2	HP:0002376	Developmental regression
29920	PYCR2	HP:0003676	Progressive
29920	PYCR2	HP:0002355	Difficulty walking
29920	PYCR2	HP:0000639	Nystagmus
29920	PYCR2	HP:0010055	Broad hallux
29920	PYCR2	HP:0011344	Severe global developmental delay
29920	PYCR2	HP:0011304	Broad thumb
29920	PYCR2	HP:0001999	Abnormal facial shape
29920	PYCR2	HP:0004322	Short stature
29920	PYCR2	HP:0005659	Thoracic kyphoscoliosis
29920	PYCR2	HP:0000768	Pectus carinatum
29920	PYCR2	HP:0000737	Irritability
29920	PYCR2	HP:0000718	Aggressive behavior
29920	PYCR2	HP:0003103	Abnormal cortical bone morphology
29920	PYCR2	HP:0003196	Short nose
29920	PYCR2	HP:0000924	Abnormality of the skeletal system
29920	PYCR2	HP:0034295	Reduced cerebral white matter volume
29920	PYCR2	HP:0030890	Hyperintensity of cerebral white matter on MRI
29920	PYCR2	HP:0003202	Skeletal muscle atrophy
29920	PYCR2	HP:0000272	Malar flattening
29920	PYCR2	HP:0006460	Increased laxity of ankles
29920	PYCR2	HP:0002827	Hip dislocation
29920	PYCR2	HP:0005072	Hyperextensibility at wrists
29920	PYCR2	HP:0000253	Progressive microcephaly
29920	PYCR2	HP:0000252	Microcephaly
29920	PYCR2	HP:0000219	Thin upper lip vermilion
29920	PYCR2	HP:0000218	High palate
29920	PYCR2	HP:0000233	Thin vermilion border
29920	PYCR2	HP:0001508	Failure to thrive
29920	PYCR2	HP:0001510	Growth delay
29920	PYCR2	HP:0000396	Overfolded helix
29920	PYCR2	HP:0000365	Hearing impairment
29920	PYCR2	HP:0000369	Low-set ears
29920	PYCR2	HP:0000341	Narrow forehead
29920	PYCR2	HP:0000340	Sloping forehead
29920	PYCR2	HP:0000343	Long philtrum
29920	PYCR2	HP:0000319	Smooth philtrum
29920	PYCR2	HP:0000316	Hypertelorism
29920	PYCR2	HP:0000327	Hypoplasia of the maxilla
29920	PYCR2	HP:0000325	Triangular face
29920	PYCR2	HP:0011166	Focal myoclonic seizure
29920	PYCR2	HP:0000400	Macrotia
29920	PYCR2	HP:0000494	Downslanted palpebral fissures
29920	PYCR2	HP:0000463	Anteverted nares
29920	PYCR2	HP:0000414	Bulbous nose
29920	PYCR2	HP:0000411	Protruding ear
29920	PYCR2	HP:0005484	Secondary microcephaly
29920	PYCR2	HP:0000582	Upslanted palpebral fissure
29920	PYCR2	HP:0000577	Exotropia
29920	PYCR2	HP:0011229	Broad eyebrow
29920	PYCR2	HP:0011231	Prominent eyelashes
29920	PYCR2	HP:0000565	Esotropia
29925	GMPPB	HP:0002465	Poor speech
29925	GMPPB	HP:0002460	Distal muscle weakness
29925	GMPPB	HP:0002435	Meningocele
29925	GMPPB	HP:0007260	Type II lissencephaly
29925	GMPPB	HP:0007256	Abnormal pyramidal sign
29925	GMPPB	HP:0010864	Intellectual disability, severe
29925	GMPPB	HP:0002421	Poor head control
29925	GMPPB	HP:0003741	Congenital muscular dystrophy
29925	GMPPB	HP:0003707	Calf muscle pseudohypertrophy
29925	GMPPB	HP:0003701	Proximal muscle weakness
29925	GMPPB	HP:0003712	Skeletal muscle hypertrophy
29925	GMPPB	HP:0001290	Generalized hypotonia
29925	GMPPB	HP:0001276	Hypertonia
29925	GMPPB	HP:0001274	Agenesis of corpus callosum
29925	GMPPB	HP:0001270	Motor delay
29925	GMPPB	HP:0001288	Gait disturbance
29925	GMPPB	HP:0001284	Areflexia
29925	GMPPB	HP:0001256	Intellectual disability, mild
29925	GMPPB	HP:0001250	Seizure
29925	GMPPB	HP:0001252	Hypotonia
29925	GMPPB	HP:0001251	Ataxia
29925	GMPPB	HP:0001249	Intellectual disability
29925	GMPPB	HP:0001263	Global developmental delay
29925	GMPPB	HP:0007360	Aplasia/Hypoplasia of the cerebellum
29925	GMPPB	HP:0007361	Abnormal pons morphology
29925	GMPPB	HP:0007340	Lower limb muscle weakness
29925	GMPPB	HP:0002540	Inability to walk
29925	GMPPB	HP:0002518	Abnormal periventricular white matter morphology
29925	GMPPB	HP:0002515	Waddling gait
29925	GMPPB	HP:0002505	Loss of ambulation
29925	GMPPB	HP:0003803	Type 1 muscle fiber predominance
29925	GMPPB	HP:0001371	Flexion contracture
29925	GMPPB	HP:0000054	Micropenis
29925	GMPPB	HP:0001388	Joint laxity
29925	GMPPB	HP:0001347	Hyperreflexia
29925	GMPPB	HP:0001360	Holoprosencephaly
29925	GMPPB	HP:0000028	Cryptorchidism
29925	GMPPB	HP:0001324	Muscle weakness
29925	GMPPB	HP:0001344	Absent speech
29925	GMPPB	HP:0000007	Autosomal recessive inheritance
29925	GMPPB	HP:0001320	Cerebellar vermis hypoplasia
29925	GMPPB	HP:0002650	Scoliosis
29925	GMPPB	HP:0001321	Cerebellar hypoplasia
29925	GMPPB	HP:0001317	Abnormal cerebellum morphology
29925	GMPPB	HP:0001315	Reduced tendon reflexes
29925	GMPPB	HP:0000158	Macroglossia
29925	GMPPB	HP:0000175	Cleft palate
29925	GMPPB	HP:0008997	Proximal muscle weakness in upper limbs
29925	GMPPB	HP:0008981	Calf muscle hypertrophy
29925	GMPPB	HP:0008959	Distal upper limb muscle weakness
29925	GMPPB	HP:0008947	Infantile muscular hypotonia
29925	GMPPB	HP:0012110	Hypoplasia of the pons
29925	GMPPB	HP:0003327	Axial muscle weakness
29925	GMPPB	HP:0003325	Limb-girdle muscle weakness
29925	GMPPB	HP:0004637	Decreased cervical spine mobility
29925	GMPPB	HP:0002085	Occipital encephalocele
29925	GMPPB	HP:0100543	Cognitive impairment
29925	GMPPB	HP:0002093	Respiratory insufficiency
29925	GMPPB	HP:0003394	Muscle spasm
29925	GMPPB	HP:0003391	Gowers sign
29925	GMPPB	HP:0002079	Hypoplasia of the corpus callosum
29925	GMPPB	HP:0002058	Myopathic facies
29925	GMPPB	HP:0003388	Easy fatigability
29925	GMPPB	HP:0003473	Fatigable weakness
29925	GMPPB	HP:0002120	Cerebral cortical atrophy
29925	GMPPB	HP:0002119	Ventriculomegaly
29925	GMPPB	HP:0003457	EMG abnormality
29925	GMPPB	HP:0002126	Polymicrogyria
29925	GMPPB	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
29925	GMPPB	HP:0002198	Dilated fourth ventricle
29925	GMPPB	HP:0002169	Clonus
29925	GMPPB	HP:0002167	Abnormality of speech or vocalization
29925	GMPPB	HP:0003593	Infantile onset
29925	GMPPB	HP:0003577	Congenital onset
29925	GMPPB	HP:0003551	Difficulty climbing stairs
29925	GMPPB	HP:0003549	Abnormality of connective tissue
29925	GMPPB	HP:0003546	Exercise intolerance
29925	GMPPB	HP:0003560	Muscular dystrophy
29925	GMPPB	HP:0002282	Gray matter heterotopia
29925	GMPPB	HP:0007015	Poor gross motor coordination
29925	GMPPB	HP:0011968	Feeding difficulties
29925	GMPPB	HP:0010628	Facial palsy
29925	GMPPB	HP:0002365	Hypoplasia of the brainstem
29925	GMPPB	HP:0002363	Abnormal brainstem morphology
29925	GMPPB	HP:0003691	Scapular winging
29925	GMPPB	HP:0002359	Frequent falls
29925	GMPPB	HP:0002355	Difficulty walking
29925	GMPPB	HP:0002353	EEG abnormality
29925	GMPPB	HP:0002350	Cerebellar cyst
29925	GMPPB	HP:0007204	Diffuse white matter abnormalities
29925	GMPPB	HP:0008443	Neuropathic spinal arthropathy
29925	GMPPB	HP:0003623	Neonatal onset
29925	GMPPB	HP:0006899	Fusion of the cerebellar hemispheres
29925	GMPPB	HP:0000639	Nystagmus
29925	GMPPB	HP:0000648	Optic atrophy
29925	GMPPB	HP:0000618	Blindness
29925	GMPPB	HP:0000609	Optic nerve hypoplasia
29925	GMPPB	HP:0009053	Distal lower limb muscle weakness
29925	GMPPB	HP:0009055	Generalized limb muscle atrophy
29925	GMPPB	HP:0012695	Decreased thalamic volume
29925	GMPPB	HP:0009046	Difficulty running
29925	GMPPB	HP:0009028	Generalized weakness of limb muscles
29925	GMPPB	HP:0006955	Olivopontocerebellar hypoplasia
29925	GMPPB	HP:0004374	Hemiplegia/hemiparesis
29925	GMPPB	HP:0100022	Abnormality of movement
29925	GMPPB	HP:0000707	Abnormality of the nervous system
29925	GMPPB	HP:0011463	Childhood onset
29925	GMPPB	HP:0003198	Myopathy
29925	GMPPB	HP:0100301	Muscle fiber tubular inclusions
29925	GMPPB	HP:0003236	Elevated circulating creatine kinase concentration
29925	GMPPB	HP:0003200	Ragged-red muscle fibers
29925	GMPPB	HP:0034392	Joint contracture
29925	GMPPB	HP:0040173	Abnormality of the tongue muscle
29925	GMPPB	HP:0002827	Hip dislocation
29925	GMPPB	HP:0002828	Multiple joint contractures
29925	GMPPB	HP:0030099	Reduced muscle fiber alpha dystroglycan
29925	GMPPB	HP:0006380	Knee flexion contracture
29925	GMPPB	HP:0000238	Hydrocephalus
29925	GMPPB	HP:0000252	Microcephaly
29925	GMPPB	HP:0002878	Respiratory failure
29925	GMPPB	HP:0000218	High palate
29925	GMPPB	HP:0001562	Oligohydramnios
29925	GMPPB	HP:0001558	Decreased fetal movement
29925	GMPPB	HP:0030046	Hypoglycosylation of alpha-dystroglycan
29925	GMPPB	HP:0030205	Increased jitter at single fiber EMG
29925	GMPPB	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors
29925	GMPPB	HP:0001608	Abnormality of the voice
29925	GMPPB	HP:0002938	Lumbar hyperlordosis
29925	GMPPB	HP:0030197	Fatigable weakness of skeletal muscles
29925	GMPPB	HP:0030192	Fatigable weakness of bulbar muscles
29925	GMPPB	HP:0030191	Abnormal peripheral nervous system synaptic transmission
29925	GMPPB	HP:0001657	Prolonged QT interval
29925	GMPPB	HP:0001638	Cardiomyopathy
29925	GMPPB	HP:0006698	Dilatation of the ventricular cavity
29925	GMPPB	HP:0000407	Sensorineural hearing impairment
29925	GMPPB	HP:0000486	Strabismus
29925	GMPPB	HP:0000485	Megalocornea
29925	GMPPB	HP:0000478	Abnormality of the eye
29925	GMPPB	HP:0011102	Ileal atresia
29925	GMPPB	HP:0012443	Abnormality of brain morphology
29925	GMPPB	HP:0000467	Neck muscle weakness
29925	GMPPB	HP:0001763	Pes planus
29925	GMPPB	HP:0000518	Cataract
29925	GMPPB	HP:0000525	Abnormality iris morphology
29925	GMPPB	HP:0000508	Ptosis
29925	GMPPB	HP:0000505	Visual impairment
29925	GMPPB	HP:0000501	Glaucoma
29925	GMPPB	HP:0000580	Pigmentary retinopathy
29925	GMPPB	HP:0000589	Coloboma
29925	GMPPB	HP:0000568	Microphthalmia
29925	GMPPB	HP:0000541	Retinal detachment
29925	GMPPB	HP:0000545	Myopia
29926	GMPPA	HP:0009916	Anisocoria
29926	GMPPA	HP:0009890	High anterior hairline
29926	GMPPA	HP:0001290	Generalized hypotonia
29926	GMPPA	HP:0001278	Orthostatic hypotension
29926	GMPPA	HP:0001250	Seizure
29926	GMPPA	HP:0001252	Hypotonia
29926	GMPPA	HP:0001251	Ataxia
29926	GMPPA	HP:0001249	Intellectual disability
29926	GMPPA	HP:0001263	Global developmental delay
29926	GMPPA	HP:0001257	Spasticity
29926	GMPPA	HP:0002571	Achalasia
29926	GMPPA	HP:0007440	Generalized hyperpigmentation
29926	GMPPA	HP:0001347	Hyperreflexia
29926	GMPPA	HP:0007556	Plantar hyperkeratosis
29926	GMPPA	HP:0000007	Autosomal recessive inheritance
29926	GMPPA	HP:0002643	Neonatal respiratory distress
29926	GMPPA	HP:0001430	Abnormality of the calf musculature
29926	GMPPA	HP:0002714	Downturned corners of mouth
29926	GMPPA	HP:0002015	Dysphagia
29926	GMPPA	HP:0002093	Respiratory insufficiency
29926	GMPPA	HP:0010450	Esophageal stenosis
29926	GMPPA	HP:0010486	Abnormality of the hypothenar eminence
29926	GMPPA	HP:0003474	Somatic sensory dysfunction
29926	GMPPA	HP:0003593	Infantile onset
29926	GMPPA	HP:0003577	Congenital onset
29926	GMPPA	HP:0007002	Motor axonal neuropathy
29926	GMPPA	HP:0011968	Feeding difficulties
29926	GMPPA	HP:0020049	Exodeviation
29926	GMPPA	HP:0002376	Developmental regression
29926	GMPPA	HP:0003623	Neonatal onset
29926	GMPPA	HP:0000639	Nystagmus
29926	GMPPA	HP:0000648	Optic atrophy
29926	GMPPA	HP:0000612	Iris coloboma
29926	GMPPA	HP:0000666	Horizontal nystagmus
29926	GMPPA	HP:0004322	Short stature
29926	GMPPA	HP:0000750	Delayed speech and language development
29926	GMPPA	HP:0000830	Anterior hypopituitarism
29926	GMPPA	HP:0000846	Adrenal insufficiency
29926	GMPPA	HP:0000982	Palmoplantar keratoderma
29926	GMPPA	HP:0000966	Hypohidrosis
29926	GMPPA	HP:0000962	Hyperkeratosis
29926	GMPPA	HP:0000252	Microcephaly
29926	GMPPA	HP:0000365	Hearing impairment
29926	GMPPA	HP:0000322	Short philtrum
29926	GMPPA	HP:0000325	Triangular face
29926	GMPPA	HP:0000407	Sensorineural hearing impairment
29926	GMPPA	HP:0000486	Strabismus
29926	GMPPA	HP:0000448	Prominent nose
29926	GMPPA	HP:0001761	Pes cavus
29926	GMPPA	HP:0000522	Alacrima
29926	GMPPA	HP:0000508	Ptosis
29926	GMPPA	HP:0000505	Visual impairment
29927	SEC61A1	HP:0000097	Focal segmental glomerulosclerosis
29927	SEC61A1	HP:0000006	Autosomal dominant inheritance
29927	SEC61A1	HP:0002617	Vascular dilatation
29927	SEC61A1	HP:0000112	Nephropathy
29927	SEC61A1	HP:0000107	Renal cyst
29927	SEC61A1	HP:0002719	Recurrent infections
29927	SEC61A1	HP:0002149	Hyperuricemia
29927	SEC61A1	HP:0003676	Progressive
29927	SEC61A1	HP:0003621	Juvenile onset
29927	SEC61A1	HP:0012622	Chronic kidney disease
29927	SEC61A1	HP:0001903	Anemia
29927	SEC61A1	HP:0001997	Gout
29927	SEC61A1	HP:0004322	Short stature
29927	SEC61A1	HP:0011463	Childhood onset
29927	SEC61A1	HP:0011462	Young adult onset
29927	SEC61A1	HP:0003259	Elevated circulating creatinine concentration
29927	SEC61A1	HP:0001511	Intrauterine growth retardation
29927	SEC61A1	HP:0001875	Neutropenia
29928	TIMM22	HP:0002587	Projectile vomiting
29928	TIMM22	HP:0008807	Acetabular dysplasia
29928	TIMM22	HP:0008872	Feeding difficulties in infancy
29928	TIMM22	HP:0000007	Autosomal recessive inheritance
29928	TIMM22	HP:0001319	Neonatal hypotonia
29928	TIMM22	HP:0002020	Gastroesophageal reflux
29928	TIMM22	HP:0002151	Increased serum lactate
29928	TIMM22	HP:0011924	Decreased activity of mitochondrial complex III
29928	TIMM22	HP:0011923	Decreased activity of mitochondrial complex I
29928	TIMM22	HP:0002188	Delayed CNS myelination
29928	TIMM22	HP:0008347	Decreased activity of mitochondrial complex IV
29928	TIMM22	HP:0003236	Elevated circulating creatine kinase concentration
29928	TIMM22	HP:0001518	Small for gestational age
29928	TIMM22	HP:0001511	Intrauterine growth retardation
29929	ALG6	HP:0001156	Brachydactyly
29929	ALG6	HP:0001284	Areflexia
29929	ALG6	HP:0001250	Seizure
29929	ALG6	HP:0001252	Hypotonia
29929	ALG6	HP:0001251	Ataxia
29929	ALG6	HP:0001263	Global developmental delay
29929	ALG6	HP:0006118	Shortening of all distal phalanges of the fingers
29929	ALG6	HP:0001392	Abnormality of the liver
29929	ALG6	HP:0000007	Autosomal recessive inheritance
29929	ALG6	HP:0002652	Skeletal dysplasia
29929	ALG6	HP:0002650	Scoliosis
29929	ALG6	HP:0001321	Cerebellar hypoplasia
29929	ALG6	HP:0002625	Deep venous thrombosis
29929	ALG6	HP:0000158	Macroglossia
29929	ALG6	HP:0008936	Axial hypotonia
29929	ALG6	HP:0008150	Elevated serum transaminases during infections
29929	ALG6	HP:0002243	Protein-losing enteropathy
29929	ALG6	HP:0003563	Decreased LDL cholesterol concentration
29929	ALG6	HP:0004855	Reduced protein S activity
29929	ALG6	HP:0008373	Puberty and gonadal disorders
29929	ALG6	HP:0011968	Feeding difficulties
29929	ALG6	HP:0003642	Type I transferrin isoform profile
29929	ALG6	HP:0003621	Juvenile onset
29929	ALG6	HP:0005543	Reduced protein C activity
29929	ALG6	HP:0001976	Reduced antithrombin III activity
29929	ALG6	HP:0001929	Reduced factor XI activity
29929	ALG6	HP:0001999	Abnormal facial shape
29929	ALG6	HP:0003073	Hypoalbuminemia
29929	ALG6	HP:0000707	Abnormality of the nervous system
29929	ALG6	HP:0012758	Neurodevelopmental delay
29929	ALG6	HP:0000924	Abnormality of the skeletal system
29929	ALG6	HP:0040246	Reduced antithrombin antigen
29929	ALG6	HP:0003256	Abnormality of the coagulation cascade
29929	ALG6	HP:0000952	Jaundice
29929	ALG6	HP:0001508	Failure to thrive
29929	ALG6	HP:0012379	Abnormal circulating enzyme concentration or activity
29929	ALG6	HP:0000369	Low-set ears
29929	ALG6	HP:0000316	Hypertelorism
29929	ALG6	HP:0000486	Strabismus
29929	ALG6	HP:0000510	Rod-cone dystrophy
29929	ALG6	HP:0030348	Increased circulating androgen concentration
29929	ALG6	HP:0000546	Retinal degeneration
29940	DSE	HP:0001182	Tapered finger
29940	DSE	HP:0001181	Adducted thumb
29940	DSE	HP:0001166	Arachnodactyly
29940	DSE	HP:0008572	External ear malformation
29940	DSE	HP:0001249	Intellectual disability
29940	DSE	HP:0001238	Slender finger
29940	DSE	HP:0000085	Horseshoe kidney
29940	DSE	HP:0001388	Joint laxity
29940	DSE	HP:0000023	Inguinal hernia
29940	DSE	HP:0001363	Craniosynostosis
29940	DSE	HP:0000028	Cryptorchidism
29940	DSE	HP:0006184	Decreased palmar creases
29940	DSE	HP:0001324	Muscle weakness
29940	DSE	HP:0000007	Autosomal recessive inheritance
29940	DSE	HP:0000009	Functional abnormality of the bladder
29940	DSE	HP:0002650	Scoliosis
29940	DSE	HP:0000160	Narrow mouth
29940	DSE	HP:0000175	Cleft palate
29940	DSE	HP:0410030	Cleft lip
29940	DSE	HP:0000126	Hydronephrosis
29940	DSE	HP:0002761	Generalized joint laxity
29940	DSE	HP:0002751	Kyphoscoliosis
29940	DSE	HP:0002019	Constipation
29940	DSE	HP:0003326	Myalgia
29940	DSE	HP:0002007	Frontal bossing
29940	DSE	HP:0003324	Generalized muscle weakness
29940	DSE	HP:0003319	Abnormality of the cervical spine
29940	DSE	HP:0011800	Midface retrusion
29940	DSE	HP:0002059	Cerebral atrophy
29940	DSE	HP:0002119	Ventriculomegaly
29940	DSE	HP:0004794	Malrotation of small bowel
29940	DSE	HP:0002107	Pneumothorax
29940	DSE	HP:0003414	Atlantoaxial dislocation
29940	DSE	HP:0002194	Delayed gross motor development
29940	DSE	HP:0003577	Congenital onset
29940	DSE	HP:0001058	Poor wound healing
29940	DSE	HP:0001075	Atrophic scars
29940	DSE	HP:0031869	Recurrent joint dislocation
29940	DSE	HP:0001933	Subcutaneous hemorrhage
29940	DSE	HP:0000678	Dental crowding
29940	DSE	HP:0100016	Abnormality of mesentery morphology
29940	DSE	HP:0000766	Abnormal sternum morphology
29940	DSE	HP:0000787	Nephrolithiasis
29940	DSE	HP:0003198	Myopathy
29940	DSE	HP:0003199	Decreased muscle mass
29940	DSE	HP:0003196	Short nose
29940	DSE	HP:0004474	Persistent open anterior fontanelle
29940	DSE	HP:0000978	Bruising susceptibility
29940	DSE	HP:0000974	Hyperextensible skin
29940	DSE	HP:0000297	Facial hypotonia
29940	DSE	HP:0002829	Arthralgia
29940	DSE	HP:0002804	Arthrogryposis multiplex congenita
29940	DSE	HP:0000239	Large fontanelles
29940	DSE	HP:0001582	Redundant skin
29940	DSE	HP:0001581	Recurrent skin infections
29940	DSE	HP:0000248	Brachycephaly
29940	DSE	HP:0000219	Thin upper lip vermilion
29940	DSE	HP:0000218	High palate
29940	DSE	HP:0001519	Disproportionate tall stature
29940	DSE	HP:0012385	Camptodactyly
29940	DSE	HP:0002947	Cervical kyphosis
29940	DSE	HP:0000365	Hearing impairment
29940	DSE	HP:0000368	Low-set, posteriorly rotated ears
29940	DSE	HP:0000343	Long philtrum
29940	DSE	HP:0000316	Hypertelorism
29940	DSE	HP:0001654	Abnormal heart valve morphology
29940	DSE	HP:0001653	Mitral regurgitation
29940	DSE	HP:0001655	Patent foramen ovale
29940	DSE	HP:0001627	Abnormal heart morphology
29940	DSE	HP:0000308	Microretrognathia
29940	DSE	HP:0001634	Mitral valve prolapse
29940	DSE	HP:0007906	Ocular hypertension
29940	DSE	HP:0000400	Macrotia
29940	DSE	HP:0005272	Prominent nasolabial fold
29940	DSE	HP:0000483	Astigmatism
29940	DSE	HP:0000486	Strabismus
29940	DSE	HP:0000494	Downslanted palpebral fissures
29940	DSE	HP:0001776	Bilateral talipes equinovarus
29940	DSE	HP:0000411	Protruding ear
29940	DSE	HP:0001762	Talipes equinovarus
29940	DSE	HP:0000506	Telecanthus
29940	DSE	HP:0000501	Glaucoma
29940	DSE	HP:0000592	Blue sclerae
29940	DSE	HP:0001892	Abnormal bleeding
29940	DSE	HP:0012534	Dysesthesia
29940	DSE	HP:0000541	Retinal detachment
29940	DSE	HP:0000545	Myopia
29954	POMT2	HP:0002465	Poor speech
29954	POMT2	HP:0002438	Cerebellar malformation
29954	POMT2	HP:0002435	Meningocele
29954	POMT2	HP:0001105	Retinal atrophy
29954	POMT2	HP:0009917	Persistent pupillary membrane
29954	POMT2	HP:0025169	Left ventricular systolic dysfunction
29954	POMT2	HP:0007260	Type II lissencephaly
29954	POMT2	HP:0007256	Abnormal pyramidal sign
29954	POMT2	HP:0010864	Intellectual disability, severe
29954	POMT2	HP:0008551	Microtia
29954	POMT2	HP:0007227	Macrogyria
29954	POMT2	HP:0003741	Congenital muscular dystrophy
29954	POMT2	HP:0003707	Calf muscle pseudohypertrophy
29954	POMT2	HP:0003701	Proximal muscle weakness
29954	POMT2	HP:0003712	Skeletal muscle hypertrophy
29954	POMT2	HP:0007291	Posterior fossa cyst
29954	POMT2	HP:0001290	Generalized hypotonia
29954	POMT2	HP:0001276	Hypertonia
29954	POMT2	HP:0001274	Agenesis of corpus callosum
29954	POMT2	HP:0001270	Motor delay
29954	POMT2	HP:0001288	Gait disturbance
29954	POMT2	HP:0001284	Areflexia
29954	POMT2	HP:0001256	Intellectual disability, mild
29954	POMT2	HP:0001250	Seizure
29954	POMT2	HP:0001252	Hypotonia
29954	POMT2	HP:0001249	Intellectual disability
29954	POMT2	HP:0001265	Hyporeflexia
29954	POMT2	HP:0001263	Global developmental delay
29954	POMT2	HP:0001262	Excessive daytime somnolence
29954	POMT2	HP:0008736	Hypoplasia of penis
29954	POMT2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
29954	POMT2	HP:0007361	Abnormal pons morphology
29954	POMT2	HP:0002540	Inability to walk
29954	POMT2	HP:0002536	Abnormal cortical gyration
29954	POMT2	HP:0002518	Abnormal periventricular white matter morphology
29954	POMT2	HP:0002505	Loss of ambulation
29954	POMT2	HP:0001371	Flexion contracture
29954	POMT2	HP:0000054	Micropenis
29954	POMT2	HP:0000050	Hypoplastic male external genitalia
29954	POMT2	HP:0001347	Hyperreflexia
29954	POMT2	HP:0001360	Holoprosencephaly
29954	POMT2	HP:0000028	Cryptorchidism
29954	POMT2	HP:0008872	Feeding difficulties in infancy
29954	POMT2	HP:0001331	Absent septum pellucidum
29954	POMT2	HP:0001328	Specific learning disability
29954	POMT2	HP:0001324	Muscle weakness
29954	POMT2	HP:0001344	Absent speech
29954	POMT2	HP:0001339	Lissencephaly
29954	POMT2	HP:0000007	Autosomal recessive inheritance
29954	POMT2	HP:0001305	Dandy-Walker malformation
29954	POMT2	HP:0001302	Pachygyria
29954	POMT2	HP:0001320	Cerebellar vermis hypoplasia
29954	POMT2	HP:0002650	Scoliosis
29954	POMT2	HP:0001321	Cerebellar hypoplasia
29954	POMT2	HP:0001317	Abnormal cerebellum morphology
29954	POMT2	HP:0001319	Neonatal hypotonia
29954	POMT2	HP:0001315	Reduced tendon reflexes
29954	POMT2	HP:0000194	Open mouth
29954	POMT2	HP:0000193	Bifid uvula
29954	POMT2	HP:0000158	Macroglossia
29954	POMT2	HP:0000176	Submucous cleft hard palate
29954	POMT2	HP:0000175	Cleft palate
29954	POMT2	HP:0008981	Calf muscle hypertrophy
29954	POMT2	HP:0008947	Infantile muscular hypotonia
29954	POMT2	HP:0012110	Hypoplasia of the pons
29954	POMT2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
29954	POMT2	HP:0000110	Renal dysplasia
29954	POMT2	HP:0002023	Anal atresia
29954	POMT2	HP:0003327	Axial muscle weakness
29954	POMT2	HP:0003325	Limb-girdle muscle weakness
29954	POMT2	HP:0003307	Hyperlordosis
29954	POMT2	HP:0004637	Decreased cervical spine mobility
29954	POMT2	HP:0003306	Spinal rigidity
29954	POMT2	HP:0003324	Generalized muscle weakness
29954	POMT2	HP:0002085	Occipital encephalocele
29954	POMT2	HP:0002084	Encephalocele
29954	POMT2	HP:0100543	Cognitive impairment
29954	POMT2	HP:0002093	Respiratory insufficiency
29954	POMT2	HP:0002079	Hypoplasia of the corpus callosum
29954	POMT2	HP:0011712	Right bundle branch block
29954	POMT2	HP:0002120	Cerebral cortical atrophy
29954	POMT2	HP:0002119	Ventriculomegaly
29954	POMT2	HP:0003457	EMG abnormality
29954	POMT2	HP:0002126	Polymicrogyria
29954	POMT2	HP:0002187	Intellectual disability, profound
29954	POMT2	HP:0002198	Dilated fourth ventricle
29954	POMT2	HP:0002194	Delayed gross motor development
29954	POMT2	HP:0002169	Clonus
29954	POMT2	HP:0002167	Abnormality of speech or vocalization
29954	POMT2	HP:0010508	Metatarsus valgus
29954	POMT2	HP:0003593	Infantile onset
29954	POMT2	HP:0002269	Abnormality of neuronal migration
29954	POMT2	HP:0003577	Congenital onset
29954	POMT2	HP:0003551	Difficulty climbing stairs
29954	POMT2	HP:0003549	Abnormality of connective tissue
29954	POMT2	HP:0003560	Muscular dystrophy
29954	POMT2	HP:0003557	Increased variability in muscle fiber diameter
29954	POMT2	HP:0002282	Gray matter heterotopia
29954	POMT2	HP:0007033	Cerebellar dysplasia
29954	POMT2	HP:0007015	Poor gross motor coordination
29954	POMT2	HP:0011968	Feeding difficulties
29954	POMT2	HP:0010628	Facial palsy
29954	POMT2	HP:0003697	Scapuloperoneal amyotrophy
29954	POMT2	HP:0002365	Hypoplasia of the brainstem
29954	POMT2	HP:0002363	Abnormal brainstem morphology
29954	POMT2	HP:0003691	Scapular winging
29954	POMT2	HP:0002355	Difficulty walking
29954	POMT2	HP:0002353	EEG abnormality
29954	POMT2	HP:0002350	Cerebellar cyst
29954	POMT2	HP:0002334	Abnormal cerebellar vermis morphology
29954	POMT2	HP:0007204	Diffuse white matter abnormalities
29954	POMT2	HP:0007126	Proximal amyotrophy
29954	POMT2	HP:0008443	Neuropathic spinal arthropathy
29954	POMT2	HP:0006829	Severe muscular hypotonia
29954	POMT2	HP:0031882	Agyria
29954	POMT2	HP:0006899	Fusion of the cerebellar hemispheres
29954	POMT2	HP:0006888	Meningoencephalocele
29954	POMT2	HP:0000648	Optic atrophy
29954	POMT2	HP:0000618	Blindness
29954	POMT2	HP:0000612	Iris coloboma
29954	POMT2	HP:0000609	Optic nerve hypoplasia
29954	POMT2	HP:0012695	Decreased thalamic volume
29954	POMT2	HP:0000659	Peters anomaly
29954	POMT2	HP:0006955	Olivopontocerebellar hypoplasia
29954	POMT2	HP:0006913	Frontal cortical atrophy
29954	POMT2	HP:0004374	Hemiplegia/hemiparesis
29954	POMT2	HP:0100022	Abnormality of movement
29954	POMT2	HP:0000707	Abnormality of the nervous system
29954	POMT2	HP:0012793	Kinked brainstem
29954	POMT2	HP:0011463	Childhood onset
29954	POMT2	HP:0003198	Myopathy
29954	POMT2	HP:0040081	Abnormal circulating creatine kinase concentration
29954	POMT2	HP:0003236	Elevated circulating creatine kinase concentration
29954	POMT2	HP:0003202	Skeletal muscle atrophy
29954	POMT2	HP:0045040	Abnormal lactate dehydrogenase level
29954	POMT2	HP:0040173	Abnormality of the tongue muscle
29954	POMT2	HP:0000298	Mask-like facies
29954	POMT2	HP:0000256	Macrocephaly
29954	POMT2	HP:0007731	Chorioretinal dysplasia
29954	POMT2	HP:0002827	Hip dislocation
29954	POMT2	HP:0002828	Multiple joint contractures
29954	POMT2	HP:0002803	Congenital contracture
29954	POMT2	HP:0030099	Reduced muscle fiber alpha dystroglycan
29954	POMT2	HP:0000238	Hydrocephalus
29954	POMT2	HP:0000252	Microcephaly
29954	POMT2	HP:0002878	Respiratory failure
29954	POMT2	HP:0001522	Death in infancy
29954	POMT2	HP:0000204	Cleft upper lip
29954	POMT2	HP:0030046	Hypoglycosylation of alpha-dystroglycan
29954	POMT2	HP:0001608	Abnormality of the voice
29954	POMT2	HP:0002938	Lumbar hyperlordosis
29954	POMT2	HP:0030197	Fatigable weakness of skeletal muscles
29954	POMT2	HP:0000358	Posteriorly rotated ears
29954	POMT2	HP:0000369	Low-set ears
29954	POMT2	HP:0000340	Sloping forehead
29954	POMT2	HP:0000347	Micrognathia
29954	POMT2	HP:0001644	Dilated cardiomyopathy
29954	POMT2	HP:0002951	Partial absence of cerebellar vermis
29954	POMT2	HP:0001638	Cardiomyopathy
29954	POMT2	HP:0007957	Corneal opacity
29954	POMT2	HP:0007973	Retinal dysplasia
29954	POMT2	HP:0001712	Left ventricular hypertrophy
29954	POMT2	HP:0000486	Strabismus
29954	POMT2	HP:0000485	Megalocornea
29954	POMT2	HP:0000482	Microcornea
29954	POMT2	HP:0000478	Abnormality of the eye
29954	POMT2	HP:0012443	Abnormality of brain morphology
29954	POMT2	HP:0012400	Abnormal circulating aldolase concentration
29954	POMT2	HP:0000411	Protruding ear
29954	POMT2	HP:0000413	Atresia of the external auditory canal
29954	POMT2	HP:0006785	Limb-girdle muscular dystrophy
29954	POMT2	HP:0000518	Cataract
29954	POMT2	HP:0000528	Anophthalmia
29954	POMT2	HP:0000525	Abnormality iris morphology
29954	POMT2	HP:0000505	Visual impairment
29954	POMT2	HP:0000501	Glaucoma
29954	POMT2	HP:0000580	Pigmentary retinopathy
29954	POMT2	HP:0000587	Abnormal optic nerve morphology
29954	POMT2	HP:0000589	Coloboma
29954	POMT2	HP:0000557	Buphthalmos
29954	POMT2	HP:0000556	Retinal dystrophy
29954	POMT2	HP:0000568	Microphthalmia
29954	POMT2	HP:0000541	Retinal detachment
29954	POMT2	HP:0000540	Hypermetropia
29954	POMT2	HP:0000545	Myopia
29957	SLC25A24	HP:0001159	Syndactyly
29957	SLC25A24	HP:0010940	Aplasia/Hypoplasia of the nasal bone
29957	SLC25A24	HP:0009891	Underdeveloped supraorbital ridges
29957	SLC25A24	HP:0009882	Short distal phalanx of finger
29957	SLC25A24	HP:0003758	Reduced subcutaneous adipose tissue
29957	SLC25A24	HP:0001290	Generalized hypotonia
29957	SLC25A24	HP:0001256	Intellectual disability, mild
29957	SLC25A24	HP:0002561	Absent nipple
29957	SLC25A24	HP:0002557	Hypoplastic nipples
29957	SLC25A24	HP:0003811	Neonatal death
29957	SLC25A24	HP:0000059	Hypoplastic labia majora
29957	SLC25A24	HP:0000046	Small scrotum
29957	SLC25A24	HP:0000054	Micropenis
29957	SLC25A24	HP:0001363	Craniosynostosis
29957	SLC25A24	HP:0000028	Cryptorchidism
29957	SLC25A24	HP:0006191	Deep palmar crease
29957	SLC25A24	HP:0007495	Prematurely aged appearance
29957	SLC25A24	HP:0007477	Abnormal dermatoglyphics
29957	SLC25A24	HP:0001324	Muscle weakness
29957	SLC25A24	HP:0000006	Autosomal dominant inheritance
29957	SLC25A24	HP:0001320	Cerebellar vermis hypoplasia
29957	SLC25A24	HP:0002650	Scoliosis
29957	SLC25A24	HP:0001321	Cerebellar hypoplasia
29957	SLC25A24	HP:0000164	Abnormality of the dentition
29957	SLC25A24	HP:0000160	Narrow mouth
29957	SLC25A24	HP:0002705	High, narrow palate
29957	SLC25A24	HP:0002750	Delayed skeletal maturation
29957	SLC25A24	HP:0002020	Gastroesophageal reflux
29957	SLC25A24	HP:0011800	Midface retrusion
29957	SLC25A24	HP:0002089	Pulmonary hypoplasia
29957	SLC25A24	HP:0002092	Pulmonary arterial hypertension
29957	SLC25A24	HP:0002093	Respiratory insufficiency
29957	SLC25A24	HP:0002079	Hypoplasia of the corpus callosum
29957	SLC25A24	HP:0100578	Lipoatrophy
29957	SLC25A24	HP:0005916	Abnormal metacarpal morphology
29957	SLC25A24	HP:0002100	Recurrent aspiration pneumonia
29957	SLC25A24	HP:0002107	Pneumothorax
29957	SLC25A24	HP:0002162	Low posterior hairline
29957	SLC25A24	HP:0003577	Congenital onset
29957	SLC25A24	HP:0002230	Generalized hirsutism
29957	SLC25A24	HP:0002209	Sparse scalp hair
29957	SLC25A24	HP:0002208	Coarse hair
29957	SLC25A24	HP:0009721	Shagreen patch
29957	SLC25A24	HP:0002282	Gray matter heterotopia
29957	SLC25A24	HP:0002299	Brittle hair
29957	SLC25A24	HP:0010648	Dermal translucency
29957	SLC25A24	HP:0011968	Feeding difficulties
29957	SLC25A24	HP:0001015	Prominent superficial veins
29957	SLC25A24	HP:0100678	Premature skin wrinkling
29957	SLC25A24	HP:0010808	Protruding tongue
29957	SLC25A24	HP:0009804	Tooth agenesis
29957	SLC25A24	HP:0008497	Congenital craniofacial dysostosis
29957	SLC25A24	HP:0007165	Periventricular heterotopia
29957	SLC25A24	HP:0004942	Aortic aneurysm
29957	SLC25A24	HP:0000639	Nystagmus
29957	SLC25A24	HP:0000636	Upper eyelid coloboma
29957	SLC25A24	HP:0000647	Sclerocornea
29957	SLC25A24	HP:0000677	Oligodontia
29957	SLC25A24	HP:0000691	Microdontia
29957	SLC25A24	HP:0000664	Synophrys
29957	SLC25A24	HP:0004322	Short stature
29957	SLC25A24	HP:0004331	Decreased skull ossification
29957	SLC25A24	HP:0012745	Short palpebral fissure
29957	SLC25A24	HP:0004440	Coronal craniosynostosis
29957	SLC25A24	HP:0003196	Short nose
29957	SLC25A24	HP:0000929	Abnormal skull morphology
29957	SLC25A24	HP:0000926	Platyspondyly
29957	SLC25A24	HP:0000998	Hypertrichosis
29957	SLC25A24	HP:0000973	Cutis laxa
29957	SLC25A24	HP:0005807	Absent distal phalanges
29957	SLC25A24	HP:0008070	Sparse hair
29957	SLC25A24	HP:0008038	Aplastic/hypoplastic lacrimal glands
29957	SLC25A24	HP:0000286	Epicanthus
29957	SLC25A24	HP:0000278	Retrognathia
29957	SLC25A24	HP:0000294	Low anterior hairline
29957	SLC25A24	HP:0001595	Abnormal hair morphology
29957	SLC25A24	HP:0001597	Abnormality of the nail
29957	SLC25A24	HP:0000260	Wide anterior fontanel
29957	SLC25A24	HP:0000262	Turricephaly
29957	SLC25A24	HP:0007740	Long eyelashes in irregular rows
29957	SLC25A24	HP:0000238	Hydrocephalus
29957	SLC25A24	HP:0000252	Microcephaly
29957	SLC25A24	HP:0001582	Redundant skin
29957	SLC25A24	HP:0000248	Brachycephaly
29957	SLC25A24	HP:0000219	Thin upper lip vermilion
29957	SLC25A24	HP:0001545	Anteriorly placed anus
29957	SLC25A24	HP:0001562	Oligohydramnios
29957	SLC25A24	HP:0000232	Everted lower lip vermilion
29957	SLC25A24	HP:0001522	Death in infancy
29957	SLC25A24	HP:0001537	Umbilical hernia
29957	SLC25A24	HP:0001508	Failure to thrive
29957	SLC25A24	HP:0001518	Small for gestational age
29957	SLC25A24	HP:0001511	Intrauterine growth retardation
29957	SLC25A24	HP:0005247	Hypoplasia of the abdominal wall musculature
29957	SLC25A24	HP:0005180	Tricuspid regurgitation
29957	SLC25A24	HP:0000358	Posteriorly rotated ears
29957	SLC25A24	HP:0000369	Low-set ears
29957	SLC25A24	HP:0000368	Low-set, posteriorly rotated ears
29957	SLC25A24	HP:0000343	Long philtrum
29957	SLC25A24	HP:0000337	Broad forehead
29957	SLC25A24	HP:0000347	Micrognathia
29957	SLC25A24	HP:0000319	Smooth philtrum
29957	SLC25A24	HP:0001647	Bicuspid aortic valve
29957	SLC25A24	HP:0000316	Hypertelorism
29957	SLC25A24	HP:0001643	Patent ductus arteriosus
29957	SLC25A24	HP:0000327	Hypoplasia of the maxilla
29957	SLC25A24	HP:0000325	Triangular face
29957	SLC25A24	HP:0001627	Abnormal heart morphology
29957	SLC25A24	HP:0001631	Atrial septal defect
29957	SLC25A24	HP:0000303	Mandibular prognathia
29957	SLC25A24	HP:0000405	Conductive hearing impairment
29957	SLC25A24	HP:0001712	Left ventricular hypertrophy
29957	SLC25A24	HP:0005280	Depressed nasal bridge
29957	SLC25A24	HP:0000483	Astigmatism
29957	SLC25A24	HP:0000486	Strabismus
29957	SLC25A24	HP:0000478	Abnormality of the eye
29957	SLC25A24	HP:0000494	Downslanted palpebral fissures
29957	SLC25A24	HP:0000492	Abnormal eyelid morphology
29957	SLC25A24	HP:0001792	Small nail
29957	SLC25A24	HP:0001798	Anonychia
29957	SLC25A24	HP:0000444	Convex nasal ridge
29957	SLC25A24	HP:0001760	Abnormal foot morphology
29957	SLC25A24	HP:0000520	Proptosis
29957	SLC25A24	HP:0000504	Abnormality of vision
29957	SLC25A24	HP:0000574	Thick eyebrow
29957	SLC25A24	HP:0000568	Microphthalmia
29957	SLC25A24	HP:0000540	Hypermetropia
29958	DMGDH	HP:0003750	Increased muscle fatiguability
29958	DMGDH	HP:0000007	Autosomal recessive inheritance
29958	DMGDH	HP:0410020	Fish odor
29958	DMGDH	HP:0001939	Abnormality of metabolism/homeostasis
29958	DMGDH	HP:0031945	Elevated circulating N,N-dimethylglycine concentration
29958	DMGDH	HP:0031946	Elevated urinary N,N-dimethylglycine level
29958	DMGDH	HP:0003236	Elevated circulating creatine kinase concentration
29958	DMGDH	HP:0012379	Abnormal circulating enzyme concentration or activity
29960	MRM2	HP:0001272	Cerebellar atrophy
29960	MRM2	HP:0001285	Spastic tetraparesis
29960	MRM2	HP:0001250	Seizure
29960	MRM2	HP:0001263	Global developmental delay
29960	MRM2	HP:0003819	Death in childhood
29960	MRM2	HP:0001399	Hepatic failure
29960	MRM2	HP:0000007	Autosomal recessive inheritance
29960	MRM2	HP:0002072	Chorea
29960	MRM2	HP:0002059	Cerebral atrophy
29960	MRM2	HP:0002133	Status epilepticus
29960	MRM2	HP:0011923	Decreased activity of mitochondrial complex I
29960	MRM2	HP:0003572	Low plasma citrulline
29960	MRM2	HP:0008347	Decreased activity of mitochondrial complex IV
29960	MRM2	HP:0100660	Dyskinesia
29960	MRM2	HP:0001941	Acidosis
29960	MRM2	HP:0001987	Hyperammonemia
29960	MRM2	HP:0012847	Epilepsia partialis continua
29960	MRM2	HP:0100248	Hemiballismus
29967	LRP12	HP:0002460	Distal muscle weakness
29967	LRP12	HP:0003736	Autophagic vacuoles
29967	LRP12	HP:0003701	Proximal muscle weakness
29967	LRP12	HP:0001284	Areflexia
29967	LRP12	HP:0001251	Ataxia
29967	LRP12	HP:0001260	Dysarthria
29967	LRP12	HP:0008756	Bowing of the vocal cords
29967	LRP12	HP:0002500	Abnormal cerebral white matter morphology
29967	LRP12	HP:0032341	Reduced forced vital capacity
29967	LRP12	HP:0003805	Rimmed vacuoles
29967	LRP12	HP:0001324	Muscle weakness
29967	LRP12	HP:0001337	Tremor
29967	LRP12	HP:0000006	Autosomal dominant inheritance
29967	LRP12	HP:0001488	Bilateral ptosis
29967	LRP12	HP:0002747	Respiratory insufficiency due to muscle weakness
29967	LRP12	HP:0002015	Dysphagia
29967	LRP12	HP:0002098	Respiratory distress
29967	LRP12	HP:0002091	Restrictive ventilatory defect
29967	LRP12	HP:0003394	Muscle spasm
29967	LRP12	HP:0002058	Myopathic facies
29967	LRP12	HP:0003458	EMG: myopathic abnormalities
29967	LRP12	HP:0004757	Paroxysmal atrial fibrillation
29967	LRP12	HP:0003596	Middle age onset
29967	LRP12	HP:0003557	Increased variability in muscle fiber diameter
29967	LRP12	HP:0010628	Facial palsy
29967	LRP12	HP:0003693	Distal amyotrophy
29967	LRP12	HP:0002355	Difficulty walking
29967	LRP12	HP:0003677	Slowly progressive
29967	LRP12	HP:0003621	Juvenile onset
29967	LRP12	HP:0009027	Foot dorsiflexor weakness
29967	LRP12	HP:0011462	Young adult onset
29967	LRP12	HP:0003236	Elevated circulating creatine kinase concentration
29967	LRP12	HP:0100284	EMG: myotonic discharges
29967	LRP12	HP:0000218	High palate
29967	LRP12	HP:0002835	Aspiration
29967	LRP12	HP:0001618	Dysphonia
29967	LRP12	HP:0001644	Dilated cardiomyopathy
29967	LRP12	HP:0001639	Hypertrophic cardiomyopathy
29967	LRP12	HP:0000407	Sensorineural hearing impairment
29967	LRP12	HP:0012444	Brain atrophy
29967	LRP12	HP:0012416	Hypercapnia
29967	LRP12	HP:0001824	Weight loss
29967	LRP12	HP:0000508	Ptosis
29967	LRP12	HP:0000597	Ophthalmoparesis
29967	LRP12	HP:0000544	External ophthalmoplegia
29968	PSAT1	HP:0009879	Simplified gyral pattern
29968	PSAT1	HP:0002414	Spina bifida
29968	PSAT1	HP:0001276	Hypertonia
29968	PSAT1	HP:0001285	Spastic tetraparesis
29968	PSAT1	HP:0001250	Seizure
29968	PSAT1	HP:0001263	Global developmental delay
29968	PSAT1	HP:0006101	Finger syndactyly
29968	PSAT1	HP:0500228	Decreased CSF serine concentration
29968	PSAT1	HP:0001347	Hyperreflexia
29968	PSAT1	HP:0001363	Craniosynostosis
29968	PSAT1	HP:0008872	Feeding difficulties in infancy
29968	PSAT1	HP:0001339	Lissencephaly
29968	PSAT1	HP:0000007	Autosomal recessive inheritance
29968	PSAT1	HP:0001336	Myoclonus
29968	PSAT1	HP:0001320	Cerebellar vermis hypoplasia
29968	PSAT1	HP:0002650	Scoliosis
29968	PSAT1	HP:0001321	Cerebellar hypoplasia
29968	PSAT1	HP:0000175	Cleft palate
29968	PSAT1	HP:0002079	Hypoplasia of the corpus callosum
29968	PSAT1	HP:0040288	Nasogastric tube feeding
29968	PSAT1	HP:0002154	Hyperglycinemia
29968	PSAT1	HP:0002119	Ventriculomegaly
29968	PSAT1	HP:0002104	Apnea
29968	PSAT1	HP:0003577	Congenital onset
29968	PSAT1	HP:0011968	Feeding difficulties
29968	PSAT1	HP:0002392	EEG with polyspike wave complexes
29968	PSAT1	HP:0200048	Cyanotic episode
29968	PSAT1	HP:0003623	Neonatal onset
29968	PSAT1	HP:0009062	Infantile axial hypotonia
29968	PSAT1	HP:0006956	Lateral ventricle dilatation
29968	PSAT1	HP:0012736	Profound global developmental delay
29968	PSAT1	HP:0011471	Gastrostomy tube feeding in infancy
29968	PSAT1	HP:0011451	Primary microcephaly
29968	PSAT1	HP:0003121	Limb joint contracture
29968	PSAT1	HP:0034390	Decreased CSF glycine concentration
29968	PSAT1	HP:0000969	Edema
29968	PSAT1	HP:0008064	Ichthyosis
29968	PSAT1	HP:0007704	Paroxysmal involuntary eye movements
29968	PSAT1	HP:0012279	Hyposerinemia
29968	PSAT1	HP:0012277	Hypoglycinemia
29968	PSAT1	HP:0006466	Ankle flexion contracture
29968	PSAT1	HP:0006380	Knee flexion contracture
29968	PSAT1	HP:0000252	Microcephaly
29968	PSAT1	HP:0000218	High palate
29968	PSAT1	HP:0001561	Polyhydramnios
29968	PSAT1	HP:0001558	Decreased fetal movement
29968	PSAT1	HP:0001531	Failure to thrive in infancy
29968	PSAT1	HP:0001522	Death in infancy
29968	PSAT1	HP:0001538	Protuberant abdomen
29968	PSAT1	HP:0001511	Intrauterine growth retardation
29968	PSAT1	HP:0011097	Epileptic spasm
29968	PSAT1	HP:0000369	Low-set ears
29968	PSAT1	HP:0000340	Sloping forehead
29968	PSAT1	HP:0000347	Micrognathia
29968	PSAT1	HP:0000316	Hypertelorism
29968	PSAT1	HP:0006610	Wide intermamillary distance
29968	PSAT1	HP:0011196	EEG with focal sharp waves
29968	PSAT1	HP:0005280	Depressed nasal bridge
29968	PSAT1	HP:0030215	Inappropriate crying
29968	PSAT1	HP:0012448	Delayed myelination
29968	PSAT1	HP:0000457	Depressed nasal ridge
29968	PSAT1	HP:0000474	Thickened nuchal skin fold
29968	PSAT1	HP:0000470	Short neck
29968	PSAT1	HP:0001770	Toe syndactyly
29968	PSAT1	HP:0012430	Cerebral white matter hypoplasia
29968	PSAT1	HP:0001776	Bilateral talipes equinovarus
29968	PSAT1	HP:0005484	Secondary microcephaly
29968	PSAT1	HP:0000518	Cataract
29968	PSAT1	HP:0000520	Proptosis
29968	PSAT1	HP:0001838	Rocker bottom foot
29968	PSAT1	HP:0011224	Ablepharon
29969	MDFIC	HP:0003811	Neonatal death
29969	MDFIC	HP:0000023	Inguinal hernia
29969	MDFIC	HP:0000034	Hydrocele testis
29969	MDFIC	HP:0000007	Autosomal recessive inheritance
29969	MDFIC	HP:0002643	Neonatal respiratory distress
29969	MDFIC	HP:0003577	Congenital onset
29969	MDFIC	HP:0200117	Recurrent upper and lower respiratory tract infections
29969	MDFIC	HP:0001004	Lymphedema
29969	MDFIC	HP:0031944	Pleural thickening
29969	MDFIC	HP:0034197	Third trimester onset
29969	MDFIC	HP:0034198	Second trimester onset
29969	MDFIC	HP:0011421	Death in adolescence
29969	MDFIC	HP:0000962	Hyperkeratosis
29969	MDFIC	HP:0001561	Polyhydramnios
29969	MDFIC	HP:0025677	Fetal chylothorax
29969	MDFIC	HP:0025671	Fetal pericardial effusion
29969	MDFIC	HP:0025676	Fetal pleural effusion
29969	MDFIC	HP:0001791	Fetal ascites
29969	MDFIC	HP:0001790	Nonimmune hydrops fetalis
29978	UBQLN2	HP:0001260	Dysarthria
29978	UBQLN2	HP:0001257	Spasticity
29978	UBQLN2	HP:0007373	Motor neuron atrophy
29978	UBQLN2	HP:0007354	Amyotrophic lateral sclerosis
29978	UBQLN2	HP:0001332	Dystonia
29978	UBQLN2	HP:0025425	Laryngospasm
29978	UBQLN2	HP:0002795	Abnormal respiratory system physiology
29978	UBQLN2	HP:0001423	X-linked dominant inheritance
29978	UBQLN2	HP:0002017	Nausea and vomiting
29978	UBQLN2	HP:0002015	Dysphagia
29978	UBQLN2	HP:0003324	Generalized muscle weakness
29978	UBQLN2	HP:0002094	Dyspnea
29978	UBQLN2	HP:0003394	Muscle spasm
29978	UBQLN2	HP:0002145	Frontotemporal dementia
29978	UBQLN2	HP:0003470	Paralysis
29978	UBQLN2	HP:0003447	Axonal loss
29978	UBQLN2	HP:0002180	Neurodegeneration
29978	UBQLN2	HP:0002171	Gliosis
29978	UBQLN2	HP:0003596	Middle age onset
29978	UBQLN2	HP:0003584	Late onset
29978	UBQLN2	HP:0003581	Adult onset
29978	UBQLN2	HP:0003676	Progressive
29978	UBQLN2	HP:0002305	Athetosis
29978	UBQLN2	HP:0003621	Juvenile onset
29978	UBQLN2	HP:0000739	Anxiety
29978	UBQLN2	HP:0000716	Depression
29978	UBQLN2	HP:0000712	Emotional lability
29978	UBQLN2	HP:0000713	Agitation
29978	UBQLN2	HP:0011462	Young adult onset
29978	UBQLN2	HP:0003202	Skeletal muscle atrophy
29978	UBQLN2	HP:0000217	Xerostomia
29978	UBQLN2	HP:0002878	Respiratory failure
29978	UBQLN2	HP:0012378	Fatigue
29978	UBQLN2	HP:0030196	Fatigable weakness of respiratory muscles
29978	UBQLN2	HP:0030195	Fatigable weakness of swallowing muscles
29978	UBQLN2	HP:0030192	Fatigable weakness of bulbar muscles
29978	UBQLN2	HP:0012531	Pain
29980	DONSON	HP:0001156	Brachydactyly
29980	DONSON	HP:0009879	Simplified gyral pattern
29980	DONSON	HP:0002410	Aqueductal stenosis
29980	DONSON	HP:0001256	Intellectual disability, mild
29980	DONSON	HP:0001263	Global developmental delay
29980	DONSON	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
29980	DONSON	HP:0003811	Neonatal death
29980	DONSON	HP:0001363	Craniosynostosis
29980	DONSON	HP:0000007	Autosomal recessive inheritance
29980	DONSON	HP:0003974	Absent radius
29980	DONSON	HP:0012165	Oligodactyly
29980	DONSON	HP:0000160	Narrow mouth
29980	DONSON	HP:0000175	Cleft palate
29980	DONSON	HP:0002750	Delayed skeletal maturation
29980	DONSON	HP:0002089	Pulmonary hypoplasia
29980	DONSON	HP:0003577	Congenital onset
29980	DONSON	HP:0009821	Forearm undergrowth
29980	DONSON	HP:0009777	Absent thumb
29980	DONSON	HP:0004209	Clinodactyly of the 5th finger
29980	DONSON	HP:0010049	Short metacarpal
29980	DONSON	HP:0004322	Short stature
29980	DONSON	HP:0003083	Dislocated radial head
29980	DONSON	HP:0003065	Patellar hypoplasia
29980	DONSON	HP:0003041	Humeroradial synostosis
29980	DONSON	HP:0003027	Mesomelia
29980	DONSON	HP:0012745	Short palpebral fissure
29980	DONSON	HP:0000774	Narrow chest
29980	DONSON	HP:0005736	Short tibia
29980	DONSON	HP:0000921	Missing ribs
29980	DONSON	HP:0000878	11 pairs of ribs
29980	DONSON	HP:0006443	Patellar aplasia
29980	DONSON	HP:0000252	Microcephaly
29980	DONSON	HP:0001562	Oligohydramnios
29980	DONSON	HP:0001511	Intrauterine growth retardation
29980	DONSON	HP:0000369	Low-set ears
29980	DONSON	HP:0000347	Micrognathia
29980	DONSON	HP:0002983	Micromelia
29980	DONSON	HP:0002974	Radioulnar synostosis
29980	DONSON	HP:0002984	Hypoplasia of the radius
29980	DONSON	HP:0000476	Cystic hygroma
29980	DONSON	HP:0000470	Short neck
29980	DONSON	HP:0000444	Convex nasal ridge
29980	DONSON	HP:0000445	Wide nose
29980	DONSON	HP:0001762	Talipes equinovarus
29980	DONSON	HP:0000582	Upslanted palpebral fissure
29980	DONSON	HP:0000568	Microphthalmia
29998	BICRA	HP:0010953	Noncommunicating hydrocephalus
29998	BICRA	HP:0410170	Hippocampal atrophy
29998	BICRA	HP:0020206	Simple ear
29998	BICRA	HP:0009890	High anterior hairline
29998	BICRA	HP:0001250	Seizure
29998	BICRA	HP:0001252	Hypotonia
29998	BICRA	HP:0001249	Intellectual disability
29998	BICRA	HP:0001263	Global developmental delay
29998	BICRA	HP:0001238	Slender finger
29998	BICRA	HP:0002553	Highly arched eyebrow
29998	BICRA	HP:0000085	Horseshoe kidney
29998	BICRA	HP:0001388	Joint laxity
29998	BICRA	HP:0000047	Hypospadias
29998	BICRA	HP:0000028	Cryptorchidism
29998	BICRA	HP:0012081	Enlarged cerebellum
29998	BICRA	HP:0000006	Autosomal dominant inheritance
29998	BICRA	HP:0002650	Scoliosis
29998	BICRA	HP:0002608	Celiac disease
29998	BICRA	HP:0000176	Submucous cleft hard palate
29998	BICRA	HP:0002020	Gastroesophageal reflux
29998	BICRA	HP:0002007	Frontal bossing
29998	BICRA	HP:0011800	Midface retrusion
29998	BICRA	HP:0002057	Prominent glabella
29998	BICRA	HP:0002209	Sparse scalp hair
29998	BICRA	HP:0009748	Large earlobe
29998	BICRA	HP:0011968	Feeding difficulties
29998	BICRA	HP:0010628	Facial palsy
29998	BICRA	HP:0002360	Sleep disturbance
29998	BICRA	HP:0002376	Developmental regression
29998	BICRA	HP:0010823	Ridged cranial sutures
29998	BICRA	HP:0009778	Short thumb
29998	BICRA	HP:0009765	Low hanging columella
29998	BICRA	HP:0002308	Chiari malformation
29998	BICRA	HP:0000601	Hypotelorism
29998	BICRA	HP:0011304	Broad thumb
29998	BICRA	HP:0000664	Synophrys
29998	BICRA	HP:0004322	Short stature
29998	BICRA	HP:0000767	Pectus excavatum
29998	BICRA	HP:0012725	Cutaneous syndactyly
29998	BICRA	HP:0000729	Autistic behavior
29998	BICRA	HP:0004453	Overfolding of the superior helices
29998	BICRA	HP:0003186	Inverted nipples
29998	BICRA	HP:0000821	Hypothyroidism
29998	BICRA	HP:0045025	Narrow palpebral fissure
29998	BICRA	HP:0000286	Epicanthus
29998	BICRA	HP:0000293	Full cheeks
29998	BICRA	HP:0000294	Low anterior hairline
29998	BICRA	HP:0000256	Macrocephaly
29998	BICRA	HP:0000270	Delayed cranial suture closure
29998	BICRA	HP:0000268	Dolichocephaly
29998	BICRA	HP:0000252	Microcephaly
29998	BICRA	HP:0000220	Velopharyngeal insufficiency
29998	BICRA	HP:0000218	High palate
29998	BICRA	HP:0001508	Failure to thrive
29998	BICRA	HP:0030043	Hip subluxation
29998	BICRA	HP:0000395	Prominent antihelix
29998	BICRA	HP:0030190	Oral motor hypotonia
29998	BICRA	HP:0002910	Elevated hepatic transaminase
29998	BICRA	HP:0000358	Posteriorly rotated ears
29998	BICRA	HP:0000369	Low-set ears
29998	BICRA	HP:0000341	Narrow forehead
29998	BICRA	HP:0000347	Micrognathia
29998	BICRA	HP:0000316	Hypertelorism
29998	BICRA	HP:0002974	Radioulnar synostosis
29998	BICRA	HP:0030148	Heart murmur
29998	BICRA	HP:0001655	Patent foramen ovale
29998	BICRA	HP:0001636	Tetralogy of Fallot
29998	BICRA	HP:0000307	Pointed chin
29998	BICRA	HP:0000407	Sensorineural hearing impairment
29998	BICRA	HP:0005274	Prominent nasal tip
29998	BICRA	HP:0005280	Depressed nasal bridge
29998	BICRA	HP:0000486	Strabismus
29998	BICRA	HP:0000494	Downslanted palpebral fissures
29998	BICRA	HP:0000490	Deeply set eye
29998	BICRA	HP:0001792	Small nail
29998	BICRA	HP:0000463	Anteverted nares
29998	BICRA	HP:0012450	Chronic constipation
29998	BICRA	HP:0000414	Bulbous nose
29998	BICRA	HP:0000411	Protruding ear
29998	BICRA	HP:0000430	Underdeveloped nasal alae
29998	BICRA	HP:0000426	Prominent nasal bridge
29998	BICRA	HP:0000527	Long eyelashes
29998	BICRA	HP:0000582	Upslanted palpebral fissure
29998	BICRA	HP:0000574	Thick eyebrow
29998	BICRA	HP:0000540	Hypermetropia
29998	BICRA	HP:0000545	Myopia
30000	TNPO2	HP:0001276	Hypertonia
30000	TNPO2	HP:0001250	Seizure
30000	TNPO2	HP:0001252	Hypotonia
30000	TNPO2	HP:0001251	Ataxia
30000	TNPO2	HP:0001249	Intellectual disability
30000	TNPO2	HP:0001263	Global developmental delay
30000	TNPO2	HP:0002540	Inability to walk
30000	TNPO2	HP:0001344	Absent speech
30000	TNPO2	HP:0001337	Tremor
30000	TNPO2	HP:0000006	Autosomal dominant inheritance
30000	TNPO2	HP:0001321	Cerebellar hypoplasia
30000	TNPO2	HP:0002058	Myopathic facies
30000	TNPO2	HP:0002119	Ventriculomegaly
30000	TNPO2	HP:0002188	Delayed CNS myelination
30000	TNPO2	HP:0002265	Large fleshy ears
30000	TNPO2	HP:0003593	Infantile onset
30000	TNPO2	HP:0007018	Attention deficit hyperactivity disorder
30000	TNPO2	HP:0011968	Feeding difficulties
30000	TNPO2	HP:0000750	Delayed speech and language development
30000	TNPO2	HP:0000729	Autistic behavior
30000	TNPO2	HP:0000280	Coarse facial features
30000	TNPO2	HP:0000278	Retrognathia
30000	TNPO2	HP:0000252	Microcephaly
30000	TNPO2	HP:0000232	Everted lower lip vermilion
30000	TNPO2	HP:0001508	Failure to thrive
30000	TNPO2	HP:0000341	Narrow forehead
30000	TNPO2	HP:0000343	Long philtrum
30000	TNPO2	HP:0000322	Short philtrum
30000	TNPO2	HP:0000483	Astigmatism
30000	TNPO2	HP:0000486	Strabismus
30000	TNPO2	HP:0000431	Wide nasal bridge
30000	TNPO2	HP:0000426	Prominent nasal bridge
30000	TNPO2	HP:0000540	Hypermetropia
30000	TNPO2	HP:0000545	Myopia
30008	EFEMP2	HP:0001166	Arachnodactyly
30008	EFEMP2	HP:0025167	Fragmented elastic fibers in the dermis
30008	EFEMP2	HP:0001270	Motor delay
30008	EFEMP2	HP:0001252	Hypotonia
30008	EFEMP2	HP:0001249	Intellectual disability
30008	EFEMP2	HP:0008722	Urethral diverticulum
30008	EFEMP2	HP:0000076	Vesicoureteral reflux
30008	EFEMP2	HP:0001388	Joint laxity
30008	EFEMP2	HP:0001382	Joint hypermobility
30008	EFEMP2	HP:0000023	Inguinal hernia
30008	EFEMP2	HP:0001332	Dystonia
30008	EFEMP2	HP:0000010	Recurrent urinary tract infections
30008	EFEMP2	HP:0000007	Autosomal recessive inheritance
30008	EFEMP2	HP:0002616	Aortic root aneurysm
30008	EFEMP2	HP:0002617	Vascular dilatation
30008	EFEMP2	HP:0002756	Pathologic fracture
30008	EFEMP2	HP:0002021	Pyloric stenosis
30008	EFEMP2	HP:0002011	Morphological central nervous system abnormality
30008	EFEMP2	HP:0002097	Emphysema
30008	EFEMP2	HP:0002093	Respiratory insufficiency
30008	EFEMP2	HP:0010444	Pulmonary insufficiency
30008	EFEMP2	HP:0002107	Pneumothorax
30008	EFEMP2	HP:0003577	Congenital onset
30008	EFEMP2	HP:0002256	Small bowel diverticula
30008	EFEMP2	HP:0100790	Hernia
30008	EFEMP2	HP:0010648	Dermal translucency
30008	EFEMP2	HP:0003510	Severe short stature
30008	EFEMP2	HP:0100679	Lack of skin elasticity
30008	EFEMP2	HP:0032153	Joint subluxation
30008	EFEMP2	HP:0010759	Prominence of the premaxilla
30008	EFEMP2	HP:0010750	Dermatochalasis
30008	EFEMP2	HP:0100699	Scarring
30008	EFEMP2	HP:0004955	Generalized arterial tortuosity
30008	EFEMP2	HP:0004969	Peripheral pulmonary artery stenosis
30008	EFEMP2	HP:0004937	Pulmonary artery aneurysm
30008	EFEMP2	HP:0004948	Vascular tortuosity
30008	EFEMP2	HP:0004927	Pulmonary artery dilatation
30008	EFEMP2	HP:0012619	Multiple bladder diverticula
30008	EFEMP2	HP:0001999	Abnormal facial shape
30008	EFEMP2	HP:0030680	Abnormality of cardiovascular system morphology
30008	EFEMP2	HP:0004381	Supravalvular aortic stenosis
30008	EFEMP2	HP:0000767	Pectus excavatum
30008	EFEMP2	HP:0000776	Congenital diaphragmatic hernia
30008	EFEMP2	HP:0004426	Abnormal cheek morphology
30008	EFEMP2	HP:0000929	Abnormal skull morphology
30008	EFEMP2	HP:0030872	Abnormal cardiac ventricular function
30008	EFEMP2	HP:0045027	Abnormality of the thoracic cavity
30008	EFEMP2	HP:0000977	Soft skin
30008	EFEMP2	HP:0000973	Cutis laxa
30008	EFEMP2	HP:0045025	Narrow palpebral fissure
30008	EFEMP2	HP:0000260	Wide anterior fontanel
30008	EFEMP2	HP:0000271	Abnormality of the face
30008	EFEMP2	HP:0000270	Delayed cranial suture closure
30008	EFEMP2	HP:0005116	Arterial tortuosity
30008	EFEMP2	HP:0002827	Hip dislocation
30008	EFEMP2	HP:0000252	Microcephaly
30008	EFEMP2	HP:0001582	Redundant skin
30008	EFEMP2	HP:0001548	Overgrowth
30008	EFEMP2	HP:0000218	High palate
30008	EFEMP2	HP:0001562	Oligohydramnios
30008	EFEMP2	HP:0001511	Intrauterine growth retardation
30008	EFEMP2	HP:0000377	Abnormal pinna morphology
30008	EFEMP2	HP:0006532	Recurrent pneumonia
30008	EFEMP2	HP:0011004	Abnormal systemic arterial morphology
30008	EFEMP2	HP:0000369	Low-set ears
30008	EFEMP2	HP:0012330	Pyelonephritis
30008	EFEMP2	HP:0000347	Micrognathia
30008	EFEMP2	HP:0000316	Hypertelorism
30008	EFEMP2	HP:0001662	Bradycardia
30008	EFEMP2	HP:0001635	Congestive heart failure
30008	EFEMP2	HP:0006698	Dilatation of the ventricular cavity
30008	EFEMP2	HP:0005280	Depressed nasal bridge
30008	EFEMP2	HP:0000494	Downslanted palpebral fissures
30008	EFEMP2	HP:0000444	Convex nasal ridge
30008	EFEMP2	HP:0000414	Bulbous nose
30008	EFEMP2	HP:0000518	Cataract
30008	EFEMP2	HP:0000520	Proptosis
30008	EFEMP2	HP:0011220	Prominent forehead
30009	TBX21	HP:0012042	Aspirin-induced asthma
30009	TBX21	HP:0000007	Autosomal recessive inheritance
30009	TBX21	HP:0002099	Asthma
30009	TBX21	HP:0100582	Nasal polyposis
30009	TBX21	HP:0003593	Infantile onset
30009	TBX21	HP:0020087	BCGosis
30009	TBX21	HP:4000007	Bronchoconstriction
30009	TBX21	HP:0001880	Eosinophilia
30011	SH3KBP1	HP:0001369	Arthritis
30011	SH3KBP1	HP:0001419	X-linked recessive inheritance
30011	SH3KBP1	HP:0002718	Recurrent bacterial infections
30011	SH3KBP1	HP:0002024	Malabsorption
30011	SH3KBP1	HP:0003593	Infantile onset
30011	SH3KBP1	HP:0002205	Recurrent respiratory infections
30011	SH3KBP1	HP:0008348	Decreased circulating IgG2 level
30011	SH3KBP1	HP:0007018	Attention deficit hyperactivity disorder
30011	SH3KBP1	HP:0032138	Decreased circulating IgG4 level
30011	SH3KBP1	HP:0001954	Recurrent fever
30011	SH3KBP1	HP:0003003	Colon cancer
30011	SH3KBP1	HP:0004432	Agammaglobulinemia
30011	SH3KBP1	HP:0004429	Recurrent viral infections
30011	SH3KBP1	HP:0002850	Decreased circulating total IgM
30011	SH3KBP1	HP:0001513	Obesity
30011	SH3KBP1	HP:0005215	Frequent Giardia lamblia infestation
30011	SH3KBP1	HP:0000403	Recurrent otitis media
30011	SH3KBP1	HP:0011108	Recurrent sinusitis
30061	SLC40A1	HP:0007440	Generalized hyperpigmentation
30061	SLC40A1	HP:0001397	Hepatic steatosis
30061	SLC40A1	HP:0001394	Cirrhosis
30061	SLC40A1	HP:0001376	Limitation of joint mobility
30061	SLC40A1	HP:0001373	Joint dislocation
30061	SLC40A1	HP:0001386	Joint swelling
30061	SLC40A1	HP:0000006	Autosomal dominant inheritance
30061	SLC40A1	HP:0002612	Congenital hepatic fibrosis
30061	SLC40A1	HP:0002758	Osteoarthritis
30061	SLC40A1	HP:0002027	Abdominal pain
30061	SLC40A1	HP:0040270	Impaired glucose tolerance
30061	SLC40A1	HP:0002240	Hepatomegaly
30061	SLC40A1	HP:0001952	Glucose intolerance
30061	SLC40A1	HP:0001903	Anemia
30061	SLC40A1	HP:0000802	Impotence
30061	SLC40A1	HP:0000819	Diabetes mellitus
30061	SLC40A1	HP:0003281	Increased circulating ferritin concentration
30061	SLC40A1	HP:0000953	Hyperpigmentation of the skin
30061	SLC40A1	HP:0011675	Arrhythmia
30061	SLC40A1	HP:0002829	Arthralgia
30061	SLC40A1	HP:0012378	Fatigue
30061	SLC40A1	HP:0001638	Cardiomyopathy
30061	SLC40A1	HP:0012463	Elevated transferrin saturation
30061	SLC40A1	HP:0000518	Cataract
30062	RAX	HP:0000007	Autosomal recessive inheritance
30062	RAX	HP:0008499	High hypermetropia
30062	RAX	HP:0009755	Ankyloblepharon
30062	RAX	HP:0000647	Sclerocornea
30062	RAX	HP:0000610	Abnormal choroid morphology
30062	RAX	HP:0007703	Abnormality of retinal pigmentation
30062	RAX	HP:0000486	Strabismus
30062	RAX	HP:0000528	Anophthalmia
30062	RAX	HP:0000501	Glaucoma
30062	RAX	HP:0000568	Microphthalmia
30813	VSX1	HP:0008625	Severe sensorineural hearing impairment
30813	VSX1	HP:0009918	Ectopia pupillae
30813	VSX1	HP:0007291	Posterior fossa cyst
30813	VSX1	HP:0025358	Uveal ectropion
30813	VSX1	HP:0012040	Corneal stromal edema
30813	VSX1	HP:0000006	Autosomal dominant inheritance
30813	VSX1	HP:0007676	Hypoplasia of the iris
30813	VSX1	HP:0007663	Reduced visual acuity
30813	VSX1	HP:0011818	Nasofrontal encephalocele
30813	VSX1	HP:0002119	Ventriculomegaly
30813	VSX1	HP:0003577	Congenital onset
30813	VSX1	HP:0002321	Vertigo
30813	VSX1	HP:0002315	Headache
30813	VSX1	HP:0200026	Ocular pain
30813	VSX1	HP:0200065	Chorioretinal degeneration
30813	VSX1	HP:0032122	Very low visual acuity
30813	VSX1	HP:0100692	Increased corneal curvature
30813	VSX1	HP:0000632	Lacrimation abnormality
30813	VSX1	HP:0000646	Amblyopia
30813	VSX1	HP:0000613	Photophobia
30813	VSX1	HP:0000622	Blurred vision
30813	VSX1	HP:0011491	Reduced number of corneal endothelial cells
30813	VSX1	HP:0011490	Abnormal Descemet membrane morphology
30813	VSX1	HP:0011483	Anterior synechiae of the anterior chamber
30813	VSX1	HP:0011462	Young adult onset
30813	VSX1	HP:0007700	Ocular anterior segment dysgenesis
30813	VSX1	HP:0000238	Hydrocephalus
30813	VSX1	HP:0000377	Abnormal pinna morphology
30813	VSX1	HP:0000316	Hypertelorism
30813	VSX1	HP:0007957	Corneal opacity
30813	VSX1	HP:0007906	Ocular hypertension
30813	VSX1	HP:0000483	Astigmatism
30813	VSX1	HP:0012506	Small pituitary gland
30813	VSX1	HP:0000512	Abnormal electroretinogram
30813	VSX1	HP:0000501	Glaucoma
30813	VSX1	HP:0000585	Band keratopathy
30813	VSX1	HP:0000563	Keratoconus
30813	VSX1	HP:0000565	Esotropia
30813	VSX1	HP:0000543	Optic disc pallor
30817	ADGRE2	HP:0000006	Autosomal dominant inheritance
30817	ADGRE2	HP:0031284	Flushing
30817	ADGRE2	HP:0011971	Dermatographic urticaria
30817	ADGRE2	HP:0001041	Facial erythema
30817	ADGRE2	HP:0001025	Urticaria
49855	SCAPER	HP:0001162	Postaxial hand polydactyly
49855	SCAPER	HP:0001249	Intellectual disability
49855	SCAPER	HP:0006101	Finger syndactyly
49855	SCAPER	HP:0008736	Hypoplasia of penis
49855	SCAPER	HP:0008724	Hypoplasia of the ovary
49855	SCAPER	HP:0001395	Hepatic fibrosis
49855	SCAPER	HP:0001347	Hyperreflexia
49855	SCAPER	HP:0000035	Abnormal testis morphology
49855	SCAPER	HP:0000028	Cryptorchidism
49855	SCAPER	HP:0000007	Autosomal recessive inheritance
49855	SCAPER	HP:0000003	Multicystic kidney dysplasia
49855	SCAPER	HP:0000135	Hypogonadism
49855	SCAPER	HP:0007675	Progressive night blindness
49855	SCAPER	HP:0007663	Reduced visual acuity
49855	SCAPER	HP:0500087	Peripapillary atrophy
49855	SCAPER	HP:0000100	Nephrotic syndrome
49855	SCAPER	HP:0005978	Type II diabetes mellitus
49855	SCAPER	HP:0002167	Abnormality of speech or vocalization
49855	SCAPER	HP:0002230	Generalized hirsutism
49855	SCAPER	HP:0007018	Attention deficit hyperactivity disorder
49855	SCAPER	HP:0010747	Medial flaring of the eyebrow
49855	SCAPER	HP:0000639	Nystagmus
49855	SCAPER	HP:0000648	Optic atrophy
49855	SCAPER	HP:0000618	Blindness
49855	SCAPER	HP:0000613	Photophobia
49855	SCAPER	HP:0000608	Macular degeneration
49855	SCAPER	HP:0000602	Ophthalmoplegia
49855	SCAPER	HP:0000662	Nyctalopia
49855	SCAPER	HP:0004322	Short stature
49855	SCAPER	HP:0011463	Childhood onset
49855	SCAPER	HP:0000842	Hyperinsulinemia
49855	SCAPER	HP:0000822	Hypertension
49855	SCAPER	HP:0003202	Skeletal muscle atrophy
49855	SCAPER	HP:0000987	Atypical scarring of skin
49855	SCAPER	HP:0008046	Abnormal retinal vascular morphology
49855	SCAPER	HP:0007703	Abnormality of retinal pigmentation
49855	SCAPER	HP:0007787	Posterior subcapsular cataract
49855	SCAPER	HP:0007737	Bone spicule pigmentation of the retina
49855	SCAPER	HP:0001513	Obesity
49855	SCAPER	HP:0007843	Attenuation of retinal blood vessels
49855	SCAPER	HP:0000365	Hearing impairment
49855	SCAPER	HP:0000368	Low-set, posteriorly rotated ears
49855	SCAPER	HP:0007928	Abnormal flash visual evoked potentials
49855	SCAPER	HP:0000407	Sensorineural hearing impairment
49855	SCAPER	HP:0000405	Conductive hearing impairment
49855	SCAPER	HP:0000494	Downslanted palpebral fissures
49855	SCAPER	HP:0000463	Anteverted nares
49855	SCAPER	HP:0000470	Short neck
49855	SCAPER	HP:0000431	Wide nasal bridge
49855	SCAPER	HP:0000426	Prominent nasal bridge
49855	SCAPER	HP:0000518	Cataract
49855	SCAPER	HP:0000512	Abnormal electroretinogram
49855	SCAPER	HP:0000505	Visual impairment
49855	SCAPER	HP:0000501	Glaucoma
49855	SCAPER	HP:0000580	Pigmentary retinopathy
49855	SCAPER	HP:0000563	Keratoconus
49855	SCAPER	HP:0000543	Optic disc pallor
50484	RRM2B	HP:0001155	Abnormality of the hand
50484	RRM2B	HP:0002490	Increased CSF lactate
50484	RRM2B	HP:0002460	Distal muscle weakness
50484	RRM2B	HP:0003774	Stage 5 chronic kidney disease
50484	RRM2B	HP:0007302	Bipolar affective disorder
50484	RRM2B	HP:0008619	Bilateral sensorineural hearing impairment
50484	RRM2B	HP:0025149	Atrophic muscularis propria
50484	RRM2B	HP:0007256	Abnormal pyramidal sign
50484	RRM2B	HP:0003750	Increased muscle fatiguability
50484	RRM2B	HP:0003731	Quadriceps muscle weakness
50484	RRM2B	HP:0003722	Neck flexor weakness
50484	RRM2B	HP:0003738	Exercise-induced myalgia
50484	RRM2B	HP:0002406	Limb dysmetria
50484	RRM2B	HP:0003737	Mitochondrial myopathy
50484	RRM2B	HP:0001290	Generalized hypotonia
50484	RRM2B	HP:0001276	Hypertonia
50484	RRM2B	HP:0001272	Cerebellar atrophy
50484	RRM2B	HP:0001288	Gait disturbance
50484	RRM2B	HP:0001254	Lethargy
50484	RRM2B	HP:0001250	Seizure
50484	RRM2B	HP:0001252	Hypotonia
50484	RRM2B	HP:0001251	Ataxia
50484	RRM2B	HP:0002579	Gastrointestinal dysmotility
50484	RRM2B	HP:0001249	Intellectual disability
50484	RRM2B	HP:0002578	Gastroparesis
50484	RRM2B	HP:0001265	Hyporeflexia
50484	RRM2B	HP:0001260	Dysarthria
50484	RRM2B	HP:0002549	Deficit in phonologic short-term memory
50484	RRM2B	HP:0002522	Areflexia of lower limbs
50484	RRM2B	HP:0002505	Loss of ambulation
50484	RRM2B	HP:0002500	Abnormal cerebral white matter morphology
50484	RRM2B	HP:0001392	Abnormality of the liver
50484	RRM2B	HP:0001394	Cirrhosis
50484	RRM2B	HP:0000044	Hypogonadotropic hypogonadism
50484	RRM2B	HP:0001349	Facial diplegia
50484	RRM2B	HP:0000017	Nocturia
50484	RRM2B	HP:0000007	Autosomal recessive inheritance
50484	RRM2B	HP:0001337	Tremor
50484	RRM2B	HP:0000006	Autosomal dominant inheritance
50484	RRM2B	HP:0002650	Scoliosis
50484	RRM2B	HP:0001315	Reduced tendon reflexes
50484	RRM2B	HP:0025461	Abnormal cell morphology
50484	RRM2B	HP:0001488	Bilateral ptosis
50484	RRM2B	HP:0008936	Axial hypotonia
50484	RRM2B	HP:0012103	Abnormality of the mitochondrion
50484	RRM2B	HP:0000114	Proximal tubulopathy
50484	RRM2B	HP:0002757	Recurrent fractures
50484	RRM2B	HP:0001403	Macrovesicular hepatic steatosis
50484	RRM2B	HP:0002750	Delayed skeletal maturation
50484	RRM2B	HP:0002748	Rickets
50484	RRM2B	HP:0002747	Respiratory insufficiency due to muscle weakness
50484	RRM2B	HP:0003355	Aminoaciduria
50484	RRM2B	HP:0002020	Gastroesophageal reflux
50484	RRM2B	HP:0002018	Nausea
50484	RRM2B	HP:0002019	Constipation
50484	RRM2B	HP:0003348	Hyperalaninemia
50484	RRM2B	HP:0002027	Abdominal pain
50484	RRM2B	HP:0003326	Myalgia
50484	RRM2B	HP:0002014	Diarrhea
50484	RRM2B	HP:0002015	Dysphagia
50484	RRM2B	HP:0002013	Vomiting
50484	RRM2B	HP:0004622	Progressive intervertebral space narrowing
50484	RRM2B	HP:0100543	Cognitive impairment
50484	RRM2B	HP:0002098	Respiratory distress
50484	RRM2B	HP:0002093	Respiratory insufficiency
50484	RRM2B	HP:0002067	Bradykinesia
50484	RRM2B	HP:0002066	Gait ataxia
50484	RRM2B	HP:0003394	Muscle spasm
50484	RRM2B	HP:0002063	Rigidity
50484	RRM2B	HP:0002076	Migraine
50484	RRM2B	HP:0002071	Abnormality of extrapyramidal motor function
50484	RRM2B	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
50484	RRM2B	HP:0003388	Easy fatigability
50484	RRM2B	HP:0003477	Peripheral axonal neuropathy
50484	RRM2B	HP:0002141	Gait imbalance
50484	RRM2B	HP:0002151	Increased serum lactate
50484	RRM2B	HP:0003448	Decreased sensory nerve conduction velocity
50484	RRM2B	HP:0002133	Status epilepticus
50484	RRM2B	HP:0003457	EMG abnormality
50484	RRM2B	HP:0003458	EMG: myopathic abnormalities
50484	RRM2B	HP:0003431	Decreased motor nerve conduction velocity
50484	RRM2B	HP:0003438	Absent Achilles reflex
50484	RRM2B	HP:0003401	Paresthesia
50484	RRM2B	HP:0003596	Middle age onset
50484	RRM2B	HP:0003577	Congenital onset
50484	RRM2B	HP:0100704	Cerebral visual impairment
50484	RRM2B	HP:0003551	Difficulty climbing stairs
50484	RRM2B	HP:0003547	Shoulder girdle muscle weakness
50484	RRM2B	HP:0003546	Exercise intolerance
50484	RRM2B	HP:0007042	Focal white matter lesions
50484	RRM2B	HP:0008347	Decreased activity of mitochondrial complex IV
50484	RRM2B	HP:0011968	Feeding difficulties
50484	RRM2B	HP:0010628	Facial palsy
50484	RRM2B	HP:0002396	Cogwheel rigidity
50484	RRM2B	HP:0002361	Psychomotor deterioration
50484	RRM2B	HP:0003690	Limb muscle weakness
50484	RRM2B	HP:0002359	Frequent falls
50484	RRM2B	HP:0003688	Cytochrome C oxidase-negative muscle fibers
50484	RRM2B	HP:0003689	Multiple mitochondrial DNA deletions
50484	RRM2B	HP:0002375	Hypokinesia
50484	RRM2B	HP:0002344	Progressive neurologic deterioration
50484	RRM2B	HP:0003676	Progressive
50484	RRM2B	HP:0002352	Leukoencephalopathy
50484	RRM2B	HP:0002322	Resting tremor
50484	RRM2B	HP:0009830	Peripheral neuropathy
50484	RRM2B	HP:0007141	Sensorimotor neuropathy
50484	RRM2B	HP:0007108	Demyelinating peripheral neuropathy
50484	RRM2B	HP:0003623	Neonatal onset
50484	RRM2B	HP:0004900	Severe lactic acidosis
50484	RRM2B	HP:0001962	Palpitations
50484	RRM2B	HP:0000648	Optic atrophy
50484	RRM2B	HP:0001946	Ketosis
50484	RRM2B	HP:0001952	Glucose intolerance
50484	RRM2B	HP:0000602	Ophthalmoplegia
50484	RRM2B	HP:0001903	Anemia
50484	RRM2B	HP:0012664	Reduced left ventricular ejection fraction
50484	RRM2B	HP:0009027	Foot dorsiflexor weakness
50484	RRM2B	HP:0001994	Renal Fanconi syndrome
50484	RRM2B	HP:0004322	Short stature
50484	RRM2B	HP:0004326	Cachexia
50484	RRM2B	HP:0004308	Ventricular arrhythmia
50484	RRM2B	HP:0003076	Glycosuria
50484	RRM2B	HP:0004396	Poor appetite
50484	RRM2B	HP:0004374	Hemiplegia/hemiparesis
50484	RRM2B	HP:0000739	Anxiety
50484	RRM2B	HP:0000750	Delayed speech and language development
50484	RRM2B	HP:0000716	Depression
50484	RRM2B	HP:0000726	Dementia
50484	RRM2B	HP:0011463	Childhood onset
50484	RRM2B	HP:0011462	Young adult onset
50484	RRM2B	HP:0003198	Myopathy
50484	RRM2B	HP:0003199	Decreased muscle mass
50484	RRM2B	HP:0003133	Abnormality of the spinocerebellar tracts
50484	RRM2B	HP:0003128	Lactic acidosis
50484	RRM2B	HP:0012850	Small intestinal dysmotility
50484	RRM2B	HP:0000853	Goiter
50484	RRM2B	HP:0000836	Hyperthyroidism
50484	RRM2B	HP:0000830	Anterior hypopituitarism
50484	RRM2B	HP:0000819	Diabetes mellitus
50484	RRM2B	HP:0000815	Hypergonadotropic hypogonadism
50484	RRM2B	HP:0000821	Hypothyroidism
50484	RRM2B	HP:0003236	Elevated circulating creatine kinase concentration
50484	RRM2B	HP:0003202	Skeletal muscle atrophy
50484	RRM2B	HP:0003200	Ragged-red muscle fibers
50484	RRM2B	HP:0003270	Abdominal distention
50484	RRM2B	HP:0000969	Edema
50484	RRM2B	HP:0000939	Osteoporosis
50484	RRM2B	HP:0008049	Abnormality of the extraocular muscles
50484	RRM2B	HP:0011675	Arrhythmia
50484	RRM2B	HP:0007703	Abnormality of retinal pigmentation
50484	RRM2B	HP:0005110	Atrial fibrillation
50484	RRM2B	HP:0007737	Bone spicule pigmentation of the retina
50484	RRM2B	HP:0000218	High palate
50484	RRM2B	HP:0002875	Exertional dyspnea
50484	RRM2B	HP:0001508	Failure to thrive
50484	RRM2B	HP:0012378	Fatigue
50484	RRM2B	HP:0001618	Dysphonia
50484	RRM2B	HP:0030196	Fatigable weakness of respiratory muscles
50484	RRM2B	HP:0002910	Elevated hepatic transaminase
50484	RRM2B	HP:0002922	Increased CSF protein concentration
50484	RRM2B	HP:0005150	Abnormal atrioventricular conduction
50484	RRM2B	HP:0000365	Hearing impairment
50484	RRM2B	HP:0011024	Abnormality of the gastrointestinal tract
50484	RRM2B	HP:0000338	Hypomimic face
50484	RRM2B	HP:0001644	Dilated cardiomyopathy
50484	RRM2B	HP:0001638	Cardiomyopathy
50484	RRM2B	HP:0030319	Weakness of facial musculature
50484	RRM2B	HP:0007994	Peripheral visual field loss
50484	RRM2B	HP:0000407	Sensorineural hearing impairment
50484	RRM2B	HP:0001709	Third degree atrioventricular block
50484	RRM2B	HP:0001712	Left ventricular hypertrophy
50484	RRM2B	HP:0000496	Abnormality of eye movement
50484	RRM2B	HP:0000518	Cataract
50484	RRM2B	HP:0000510	Rod-cone dystrophy
50484	RRM2B	HP:0001824	Weight loss
50484	RRM2B	HP:0000508	Ptosis
50484	RRM2B	HP:0000505	Visual impairment
50484	RRM2B	HP:0000501	Glaucoma
50484	RRM2B	HP:0000597	Ophthalmoparesis
50484	RRM2B	HP:0000580	Pigmentary retinopathy
50484	RRM2B	HP:0000590	Progressive external ophthalmoplegia
50484	RRM2B	HP:0000565	Esotropia
50484	RRM2B	HP:0000543	Optic disc pallor
50484	RRM2B	HP:0000544	External ophthalmoplegia
50485	SMARCAL1	HP:0003774	Stage 5 chronic kidney disease
50485	SMARCAL1	HP:0001298	Encephalopathy
50485	SMARCAL1	HP:0001297	Stroke
50485	SMARCAL1	HP:0001270	Motor delay
50485	SMARCAL1	HP:0001269	Hemiparesis
50485	SMARCAL1	HP:0001250	Seizure
50485	SMARCAL1	HP:0001249	Intellectual disability
50485	SMARCAL1	HP:0001260	Dysarthria
50485	SMARCAL1	HP:0001263	Global developmental delay
50485	SMARCAL1	HP:0410377	Decreased proportion of naive CD8 T cells
50485	SMARCAL1	HP:0410373	Abnormal proportion of naive CD4 T cells
50485	SMARCAL1	HP:0008689	Bilateral cryptorchidism
50485	SMARCAL1	HP:0002515	Waddling gait
50485	SMARCAL1	HP:0000083	Renal insufficiency
50485	SMARCAL1	HP:0000097	Focal segmental glomerulosclerosis
50485	SMARCAL1	HP:0000093	Proteinuria
50485	SMARCAL1	HP:0008839	Hypoplastic pelvis
50485	SMARCAL1	HP:0008784	Wide capital femoral epiphyses
50485	SMARCAL1	HP:0001324	Muscle weakness
50485	SMARCAL1	HP:0002655	Spondyloepiphyseal dysplasia
50485	SMARCAL1	HP:0000007	Autosomal recessive inheritance
50485	SMARCAL1	HP:0002637	Cerebral ischemia
50485	SMARCAL1	HP:0002634	Arteriosclerosis
50485	SMARCAL1	HP:0002621	Atherosclerosis
50485	SMARCAL1	HP:0006344	Abnormality of primary molar morphology
50485	SMARCAL1	HP:0000100	Nephrotic syndrome
50485	SMARCAL1	HP:0000112	Nephropathy
50485	SMARCAL1	HP:0002719	Recurrent infections
50485	SMARCAL1	HP:0003368	Abnormal femoral head morphology
50485	SMARCAL1	HP:0003300	Ovoid vertebral bodies
50485	SMARCAL1	HP:0002094	Dyspnea
50485	SMARCAL1	HP:0002092	Pulmonary arterial hypertension
50485	SMARCAL1	HP:0002076	Migraine
50485	SMARCAL1	HP:0002140	Ischemic stroke
50485	SMARCAL1	HP:0002133	Status epilepticus
50485	SMARCAL1	HP:0003577	Congenital onset
50485	SMARCAL1	HP:0002242	Abnormal intestine morphology
50485	SMARCAL1	HP:0002213	Fine hair
50485	SMARCAL1	HP:0002208	Coarse hair
50485	SMARCAL1	HP:0010701	Abnormal immunoglobulin level
50485	SMARCAL1	HP:0003521	Disproportionate short-trunk short stature
50485	SMARCAL1	HP:0002381	Aphasia
50485	SMARCAL1	HP:0001034	Hypermelanotic macule
50485	SMARCAL1	HP:0002376	Developmental regression
50485	SMARCAL1	HP:0002315	Headache
50485	SMARCAL1	HP:0001003	Multiple lentigines
50485	SMARCAL1	HP:0002326	Transient ischemic attack
50485	SMARCAL1	HP:0002301	Hemiplegia
50485	SMARCAL1	HP:0004931	Arteriosclerosis of small cerebral arteries
50485	SMARCAL1	HP:0005528	Bone marrow hypocellularity
50485	SMARCAL1	HP:0005523	Lymphoproliferative disorder
50485	SMARCAL1	HP:0006813	Focal hemiclonic seizure
50485	SMARCAL1	HP:0001945	Fever
50485	SMARCAL1	HP:0001903	Anemia
50485	SMARCAL1	HP:0000691	Microdontia
50485	SMARCAL1	HP:0000668	Hypodontia
50485	SMARCAL1	HP:0001999	Abnormal facial shape
50485	SMARCAL1	HP:0004322	Short stature
50485	SMARCAL1	HP:0004313	Decreased circulating antibody level
50485	SMARCAL1	HP:0003077	Hyperlipidemia
50485	SMARCAL1	HP:0012733	Macule
50485	SMARCAL1	HP:0000707	Abnormality of the nervous system
50485	SMARCAL1	HP:0000926	Platyspondyly
50485	SMARCAL1	HP:0003182	Shallow acetabular fossae
50485	SMARCAL1	HP:0003090	Hypoplasia of the capital femoral epiphysis
50485	SMARCAL1	HP:0000822	Hypertension
50485	SMARCAL1	HP:0003270	Abdominal distention
50485	SMARCAL1	HP:0000938	Osteopenia
50485	SMARCAL1	HP:0031409	Abnormal lymphocyte physiology
50485	SMARCAL1	HP:0006453	Lateral displacement of the femoral head
50485	SMARCAL1	HP:0007759	Opacification of the corneal stroma
50485	SMARCAL1	HP:0001538	Protuberant abdomen
50485	SMARCAL1	HP:0001508	Failure to thrive
50485	SMARCAL1	HP:0001518	Small for gestational age
50485	SMARCAL1	HP:0002843	Abnormal T cell morphology
50485	SMARCAL1	HP:0001511	Intrauterine growth retardation
50485	SMARCAL1	HP:0001510	Growth delay
50485	SMARCAL1	HP:0002938	Lumbar hyperlordosis
50485	SMARCAL1	HP:0002942	Thoracic kyphosis
50485	SMARCAL1	HP:0002926	Abnormality of thyroid physiology
50485	SMARCAL1	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
50485	SMARCAL1	HP:0002907	Microscopic hematuria
50485	SMARCAL1	HP:0000325	Triangular face
50485	SMARCAL1	HP:0002960	Autoimmunity
50485	SMARCAL1	HP:0001620	High pitched voice
50485	SMARCAL1	HP:0001622	Premature birth
50485	SMARCAL1	HP:0001635	Congestive heart failure
50485	SMARCAL1	HP:0007957	Corneal opacity
50485	SMARCAL1	HP:0005352	Severe T-cell immunodeficiency
50485	SMARCAL1	HP:0001733	Pancreatitis
50485	SMARCAL1	HP:0005280	Depressed nasal bridge
50485	SMARCAL1	HP:0000483	Astigmatism
50485	SMARCAL1	HP:0000455	Broad nasal tip
50485	SMARCAL1	HP:0000470	Short neck
50485	SMARCAL1	HP:0000414	Bulbous nose
50485	SMARCAL1	HP:0001762	Talipes equinovarus
50485	SMARCAL1	HP:0000431	Wide nasal bridge
50485	SMARCAL1	HP:0005435	Impaired T cell function
50485	SMARCAL1	HP:0012593	Nephrotic range proteinuria
50485	SMARCAL1	HP:0012579	Minimal change glomerulonephritis
50485	SMARCAL1	HP:0001888	Lymphopenia
50485	SMARCAL1	HP:0012539	Non-Hodgkin lymphoma
50485	SMARCAL1	HP:0001873	Thrombocytopenia
50485	SMARCAL1	HP:0001876	Pancytopenia
50485	SMARCAL1	HP:0000545	Myopia
50485	SMARCAL1	HP:0001875	Neutropenia
50506	DUOX2	HP:0001254	Lethargy
50506	DUOX2	HP:0001252	Hypotonia
50506	DUOX2	HP:0001249	Intellectual disability
50506	DUOX2	HP:0001265	Hyporeflexia
50506	DUOX2	HP:0008872	Feeding difficulties in infancy
50506	DUOX2	HP:0008828	Delayed proximal femoral epiphyseal ossification
50506	DUOX2	HP:0031169	Postterm pregnancy
50506	DUOX2	HP:0000007	Autosomal recessive inheritance
50506	DUOX2	HP:0025484	Increased circulating thyroglobulin level
50506	DUOX2	HP:0025483	Abnormal circulating thyroglobulin level
50506	DUOX2	HP:0025482	Positive perchlorate discharge test
50506	DUOX2	HP:0000158	Macroglossia
50506	DUOX2	HP:0031219	Reduced radioactive iodine uptake
50506	DUOX2	HP:0031220	Increased radioactive iodine uptake
50506	DUOX2	HP:0031221	Abnormal radioactive iodine uptake test result
50506	DUOX2	HP:0002019	Constipation
50506	DUOX2	HP:0005990	Thyroid hypoplasia
50506	DUOX2	HP:0002045	Hypothermia
50506	DUOX2	HP:0005930	Abnormal epiphysis morphology
50506	DUOX2	HP:0008263	Thyroid defect in oxidation and organification of iodide
50506	DUOX2	HP:0100786	Hypersomnia
50506	DUOX2	HP:0011968	Feeding difficulties
50506	DUOX2	HP:0001070	Mottled pigmentation
50506	DUOX2	HP:0011437	Maternal autoimmune disease
50506	DUOX2	HP:0012758	Neurodevelopmental delay
50506	DUOX2	HP:0004491	Large posterior fontanelle
50506	DUOX2	HP:0000851	Congenital hypothyroidism
50506	DUOX2	HP:0000853	Goiter
50506	DUOX2	HP:0000821	Hypothyroidism
50506	DUOX2	HP:0003265	Neonatal hyperbilirubinemia
50506	DUOX2	HP:0000969	Edema
50506	DUOX2	HP:0000282	Facial edema
50506	DUOX2	HP:0000270	Delayed cranial suture closure
50506	DUOX2	HP:0001537	Umbilical hernia
50506	DUOX2	HP:0031507	Decreased circulating T4 concentration
50506	DUOX2	HP:0006579	Prolonged neonatal jaundice
50506	DUOX2	HP:0001615	Hoarse cry
50506	DUOX2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
50506	DUOX2	HP:0001662	Bradycardia
50506	DUOX2	HP:0000407	Sensorineural hearing impairment
50506	DUOX2	HP:0005280	Depressed nasal bridge
50511	SYCP3	HP:0008734	Decreased testicular size
50511	SYCP3	HP:0008669	Abnormal spermatogenesis
50511	SYCP3	HP:0000027	Azoospermia
50511	SYCP3	HP:0000006	Autosomal dominant inheritance
50511	SYCP3	HP:0000118	Phenotypic abnormality
50511	SYCP3	HP:0011961	Non-obstructive azoospermia
50511	SYCP3	HP:0011962	Obstructive azoospermia
50511	SYCP3	HP:0200067	Recurrent spontaneous abortion
50511	SYCP3	HP:0011462	Young adult onset
50511	SYCP3	HP:0000837	Increased circulating gonadotropin level
50511	SYCP3	HP:0003251	Male infertility
50515	CHST11	HP:0001181	Adducted thumb
50515	CHST11	HP:0001156	Brachydactyly
50515	CHST11	HP:0009882	Short distal phalanx of finger
50515	CHST11	HP:0001387	Joint stiffness
50515	CHST11	HP:0000007	Autosomal recessive inheritance
50515	CHST11	HP:0002650	Scoliosis
50515	CHST11	HP:0003388	Easy fatigability
50515	CHST11	HP:0010557	Overlapping fingers
50515	CHST11	HP:0003502	Mild short stature
50515	CHST11	HP:0001049	Absent dorsal skin creases over affected joints
50515	CHST11	HP:0009774	Triangular shaped phalanges of the hand
50515	CHST11	HP:0009778	Short thumb
50515	CHST11	HP:0010055	Broad hallux
50515	CHST11	HP:0000767	Pectus excavatum
50515	CHST11	HP:0010109	Short hallux
50515	CHST11	HP:0100259	Postaxial polydactyly
50515	CHST11	HP:0008080	Hallux varus
50515	CHST11	HP:0002829	Arthralgia
50515	CHST11	HP:0002938	Lumbar hyperlordosis
50515	CHST11	HP:0002999	Patellar dislocation
50515	CHST11	HP:0001845	Overlapping toe
50515	CHST11	HP:0001852	Sandal gap
50615	IL21R	HP:0001399	Hepatic failure
50615	IL21R	HP:0001394	Cirrhosis
50615	IL21R	HP:0000007	Autosomal recessive inheritance
50615	IL21R	HP:0000006	Autosomal dominant inheritance
50615	IL21R	HP:0002719	Recurrent infections
50615	IL21R	HP:0002721	Immunodeficiency
50615	IL21R	HP:0002028	Chronic diarrhea
50615	IL21R	HP:0002099	Asthma
50615	IL21R	HP:0004798	Recurrent infection of the gastrointestinal tract
50615	IL21R	HP:0002110	Bronchiectasis
50615	IL21R	HP:0002205	Recurrent respiratory infections
50615	IL21R	HP:0200124	Chronic hepatitis due to cryptosporidium infection
50615	IL21R	HP:0020102	Pneumocystis jirovecii pneumonia
50615	IL21R	HP:0011463	Childhood onset
50615	IL21R	HP:0003193	Allergic rhinitis
50615	IL21R	HP:0003139	Panhypogammaglobulinemia
50615	IL21R	HP:0003212	Increased circulating IgE level
50615	IL21R	HP:0000964	Eczema
50615	IL21R	HP:0001508	Failure to thrive
50615	IL21R	HP:0006532	Recurrent pneumonia
50615	IL21R	HP:0030151	Cholangitis
50615	IL21R	HP:0000403	Recurrent otitis media
50615	IL21R	HP:0011108	Recurrent sinusitis
50617	ATP6V0A4	HP:0008619	Bilateral sensorineural hearing impairment
50617	ATP6V0A4	HP:0000007	Autosomal recessive inheritance
50617	ATP6V0A4	HP:0000121	Nephrocalcinosis
50617	ATP6V0A4	HP:0002748	Rickets
50617	ATP6V0A4	HP:0002013	Vomiting
50617	ATP6V0A4	HP:0002150	Hypercalciuria
50617	ATP6V0A4	HP:0003593	Infantile onset
50617	ATP6V0A4	HP:0008341	Distal renal tubular acidosis
50617	ATP6V0A4	HP:0003623	Neonatal onset
50617	ATP6V0A4	HP:0001944	Dehydration
50617	ATP6V0A4	HP:0001942	Metabolic acidosis
50617	ATP6V0A4	HP:0011463	Childhood onset
50617	ATP6V0A4	HP:0001508	Failure to thrive
50617	ATP6V0A4	HP:0001510	Growth delay
50617	ATP6V0A4	HP:0002900	Hypokalemia
50619	DEF6	HP:0032218	Decreased proportion of CD4-positive T cells
50619	DEF6	HP:0032229	Perinuclear antineutrophil antibody positivity
50619	DEF6	HP:0100806	Sepsis
50619	DEF6	HP:0002582	Atrophic gastritis
50619	DEF6	HP:0025289	Cervical lymphadenopathy
50619	DEF6	HP:0001397	Hepatic steatosis
50619	DEF6	HP:0001396	Cholestasis
50619	DEF6	HP:0001399	Hepatic failure
50619	DEF6	HP:0012050	Anasarca
50619	DEF6	HP:0000007	Autosomal recessive inheritance
50619	DEF6	HP:0012189	Hodgkin lymphoma
50619	DEF6	HP:0000175	Cleft palate
50619	DEF6	HP:0002718	Recurrent bacterial infections
50619	DEF6	HP:0002092	Pulmonary arterial hypertension
50619	DEF6	HP:0030948	Elevated gamma-glutamyltransferase level
50619	DEF6	HP:0033165	Necrotizing enterocolitis
50619	DEF6	HP:0002155	Hypertriglyceridemia
50619	DEF6	HP:0033222	Decreased CD4:CD8 ratio
50619	DEF6	HP:0003593	Infantile onset
50619	DEF6	HP:0002240	Hepatomegaly
50619	DEF6	HP:0002202	Pleural effusion
50619	DEF6	HP:0200128	Biventricular hypertrophy
50619	DEF6	HP:0011968	Feeding difficulties
50619	DEF6	HP:0020072	Persistent EBV viremia
50619	DEF6	HP:0003621	Juvenile onset
50619	DEF6	HP:0020136	Anticardiolipin IgG antibody positivity
50619	DEF6	HP:0034056	Increased fecal calprotectin level
50619	DEF6	HP:0001942	Metabolic acidosis
50619	DEF6	HP:0001954	Recurrent fever
50619	DEF6	HP:0031956	Elevated circulating aspartate aminotransferase concentration
50619	DEF6	HP:0031964	Elevated circulating alanine aminotransferase concentration
50619	DEF6	HP:0011473	Villous atrophy
50619	DEF6	HP:0011463	Childhood onset
50619	DEF6	HP:0011461	Fetal onset
50619	DEF6	HP:0004429	Recurrent viral infections
50619	DEF6	HP:0003186	Inverted nipples
50619	DEF6	HP:0000822	Hypertension
50619	DEF6	HP:0000952	Jaundice
50619	DEF6	HP:0001562	Oligohydramnios
50619	DEF6	HP:0001541	Ascites
50619	DEF6	HP:0031378	Abnormal lymphocyte proliferation
50619	DEF6	HP:0001518	Small for gestational age
50619	DEF6	HP:0001511	Intrauterine growth retardation
50619	DEF6	HP:0001510	Growth delay
50619	DEF6	HP:0002841	Recurrent fungal infections
50619	DEF6	HP:0005208	Secretory diarrhea
50619	DEF6	HP:0002900	Hypokalemia
50619	DEF6	HP:0000316	Hypertelorism
50619	DEF6	HP:0001644	Dilated cardiomyopathy
50619	DEF6	HP:0001631	Atrial septal defect
50619	DEF6	HP:0006695	Atrioventricular canal defect
50619	DEF6	HP:0001709	Third degree atrioventricular block
50619	DEF6	HP:0011131	Perianal dermatitis
50619	DEF6	HP:0001788	Premature rupture of membranes
50619	DEF6	HP:0031692	Severe cytomegalovirus infection
50619	DEF6	HP:0011227	Elevated circulating C-reactive protein concentration
50619	DEF6	HP:0001890	Autoimmune hemolytic anemia
50619	DEF6	HP:0001888	Lymphopenia
50619	DEF6	HP:0001878	Hemolytic anemia
50619	DEF6	HP:0001873	Thrombocytopenia
50628	GEMIN4	HP:0002421	Poor head control
50628	GEMIN4	HP:0003761	Calcinosis
50628	GEMIN4	HP:0001250	Seizure
50628	GEMIN4	HP:0001252	Hypotonia
50628	GEMIN4	HP:0001265	Hyporeflexia
50628	GEMIN4	HP:0001257	Spasticity
50628	GEMIN4	HP:0002540	Inability to walk
50628	GEMIN4	HP:0000089	Renal hypoplasia
50628	GEMIN4	HP:0001374	Congenital hip dislocation
50628	GEMIN4	HP:0002656	Epiphyseal dysplasia
50628	GEMIN4	HP:0001344	Absent speech
50628	GEMIN4	HP:0000007	Autosomal recessive inheritance
50628	GEMIN4	HP:0000121	Nephrocalcinosis
50628	GEMIN4	HP:0002783	Recurrent lower respiratory tract infections
50628	GEMIN4	HP:0000126	Hydronephrosis
50628	GEMIN4	HP:0003355	Aminoaciduria
50628	GEMIN4	HP:0002020	Gastroesophageal reflux
50628	GEMIN4	HP:0002015	Dysphagia
50628	GEMIN4	HP:0002188	Delayed CNS myelination
50628	GEMIN4	HP:0003593	Infantile onset
50628	GEMIN4	HP:0011968	Feeding difficulties
50628	GEMIN4	HP:0007068	Inferior cerebellar vermis hypoplasia
50628	GEMIN4	HP:0000648	Optic atrophy
50628	GEMIN4	HP:0001920	Renal artery stenosis
50628	GEMIN4	HP:0011344	Severe global developmental delay
50628	GEMIN4	HP:0000822	Hypertension
50628	GEMIN4	HP:0000938	Osteopenia
50628	GEMIN4	HP:0000252	Microcephaly
50628	GEMIN4	HP:0000218	High palate
50628	GEMIN4	HP:0001510	Growth delay
50628	GEMIN4	HP:0002902	Hyponatremia
50628	GEMIN4	HP:0002900	Hypokalemia
50628	GEMIN4	HP:0002901	Hypocalcemia
50628	GEMIN4	HP:0000347	Micrognathia
50628	GEMIN4	HP:0032988	Persistent head lag
50628	GEMIN4	HP:0012444	Brain atrophy
50628	GEMIN4	HP:0001744	Splenomegaly
50628	GEMIN4	HP:0000518	Cataract
50640	PNPLA8	HP:0003737	Mitochondrial myopathy
50640	PNPLA8	HP:0003701	Proximal muscle weakness
50640	PNPLA8	HP:0001290	Generalized hypotonia
50640	PNPLA8	HP:0001269	Hemiparesis
50640	PNPLA8	HP:0001250	Seizure
50640	PNPLA8	HP:0001252	Hypotonia
50640	PNPLA8	HP:0001260	Dysarthria
50640	PNPLA8	HP:0001257	Spasticity
50640	PNPLA8	HP:0002572	Episodic vomiting
50640	PNPLA8	HP:0008897	Postnatal growth retardation
50640	PNPLA8	HP:0001332	Dystonia
50640	PNPLA8	HP:0001324	Muscle weakness
50640	PNPLA8	HP:0000007	Autosomal recessive inheritance
50640	PNPLA8	HP:0001310	Dysmetria
50640	PNPLA8	HP:0003348	Hyperalaninemia
50640	PNPLA8	HP:0003391	Gowers sign
50640	PNPLA8	HP:0002151	Increased serum lactate
50640	PNPLA8	HP:0003593	Infantile onset
50640	PNPLA8	HP:0003542	Increased serum pyruvate
50640	PNPLA8	HP:0002384	Focal impaired awareness seizure
50640	PNPLA8	HP:0003676	Progressive
50640	PNPLA8	HP:0008504	Moderate sensorineural hearing impairment
50640	PNPLA8	HP:0003128	Lactic acidosis
50640	PNPLA8	HP:0030051	Tip-toe gait
50640	PNPLA8	HP:0001510	Growth delay
50640	PNPLA8	HP:0012378	Fatigue
50651	SLC45A1	HP:0001290	Generalized hypotonia
50651	SLC45A1	HP:0001250	Seizure
50651	SLC45A1	HP:0001263	Global developmental delay
50651	SLC45A1	HP:0008770	Obsessive-compulsive trait
50651	SLC45A1	HP:0002553	Highly arched eyebrow
50651	SLC45A1	HP:0000007	Autosomal recessive inheritance
50651	SLC45A1	HP:0002342	Intellectual disability, moderate
50651	SLC45A1	HP:0000739	Anxiety
50651	SLC45A1	HP:0000233	Thin vermilion border
50651	SLC45A1	HP:0000319	Smooth philtrum
50651	SLC45A1	HP:0000316	Hypertelorism
50651	SLC45A1	HP:0000325	Triangular face
50651	SLC45A1	HP:0005280	Depressed nasal bridge
50651	SLC45A1	HP:0000494	Downslanted palpebral fissures
50674	NEUROG3	HP:0025354	Abnormal cellular phenotype
50674	NEUROG3	HP:0000007	Autosomal recessive inheritance
50674	NEUROG3	HP:0002611	Cholestatic liver disease
50674	NEUROG3	HP:0001409	Portal hypertension
50674	NEUROG3	HP:0002024	Malabsorption
50674	NEUROG3	HP:0002014	Diarrhea
50674	NEUROG3	HP:0002013	Vomiting
50674	NEUROG3	HP:0100651	Type I diabetes mellitus
50674	NEUROG3	HP:0003623	Neonatal onset
50674	NEUROG3	HP:0004918	Hyperchloremic metabolic acidosis
50674	NEUROG3	HP:0001944	Dehydration
50674	NEUROG3	HP:0001508	Failure to thrive
50717	DCAF8	HP:0002460	Distal muscle weakness
50717	DCAF8	HP:0001284	Areflexia
50717	DCAF8	HP:0001265	Hyporeflexia
50717	DCAF8	HP:0000006	Autosomal dominant inheritance
50717	DCAF8	HP:0003376	Steppage gait
50717	DCAF8	HP:0003383	Onion bulb formation
50717	DCAF8	HP:0003477	Peripheral axonal neuropathy
50717	DCAF8	HP:0003431	Decreased motor nerve conduction velocity
50717	DCAF8	HP:0003444	EMG: chronic denervation signs
50717	DCAF8	HP:0003693	Distal amyotrophy
50717	DCAF8	HP:0006886	Impaired distal vibration sensation
50717	DCAF8	HP:0006937	Impaired distal tactile sensation
50717	DCAF8	HP:0001638	Cardiomyopathy
50717	DCAF8	HP:0001765	Hammertoe
50717	DCAF8	HP:0001761	Pes cavus
50801	KCNK4	HP:0001156	Brachydactyly
50801	KCNK4	HP:0010862	Delayed fine motor development
50801	KCNK4	HP:0001252	Hypotonia
50801	KCNK4	HP:0001249	Intellectual disability
50801	KCNK4	HP:0001263	Global developmental delay
50801	KCNK4	HP:0100874	Thick hair
50801	KCNK4	HP:0001385	Hip dysplasia
50801	KCNK4	HP:0001347	Hyperreflexia
50801	KCNK4	HP:0000006	Autosomal dominant inheritance
50801	KCNK4	HP:0000154	Wide mouth
50801	KCNK4	HP:0002002	Deep philtrum
50801	KCNK4	HP:0002080	Intention tremor
50801	KCNK4	HP:0002069	Bilateral tonic-clonic seizure
50801	KCNK4	HP:0002079	Hypoplasia of the corpus callosum
50801	KCNK4	HP:0002119	Ventriculomegaly
50801	KCNK4	HP:0002194	Delayed gross motor development
50801	KCNK4	HP:0002266	Focal clonic seizure
50801	KCNK4	HP:0003577	Congenital onset
50801	KCNK4	HP:0011968	Feeding difficulties
50801	KCNK4	HP:0010803	Everted upper lip vermilion
50801	KCNK4	HP:0004209	Clinodactyly of the 5th finger
50801	KCNK4	HP:0000639	Nystagmus
50801	KCNK4	HP:0000609	Optic nerve hypoplasia
50801	KCNK4	HP:0000664	Synophrys
50801	KCNK4	HP:0000750	Delayed speech and language development
50801	KCNK4	HP:0000998	Hypertrichosis
50801	KCNK4	HP:0000297	Facial hypotonia
50801	KCNK4	HP:0000219	Thin upper lip vermilion
50801	KCNK4	HP:0000212	Gingival overgrowth
50801	KCNK4	HP:0000201	Pierre-Robin sequence
50801	KCNK4	HP:0000369	Low-set ears
50801	KCNK4	HP:0000341	Narrow forehead
50801	KCNK4	HP:0000347	Micrognathia
50801	KCNK4	HP:0000322	Short philtrum
50801	KCNK4	HP:0000490	Deeply set eye
50801	KCNK4	HP:0000527	Long eyelashes
50801	KCNK4	HP:0011228	Horizontal eyebrow
50801	KCNK4	HP:0000574	Thick eyebrow
50814	NSDHL	HP:0001159	Syndactyly
50814	NSDHL	HP:0003764	Nevus
50814	NSDHL	HP:0001290	Generalized hypotonia
50814	NSDHL	HP:0100807	Long fingers
50814	NSDHL	HP:0001256	Intellectual disability, mild
50814	NSDHL	HP:0001250	Seizure
50814	NSDHL	HP:0001249	Intellectual disability
50814	NSDHL	HP:0001263	Global developmental delay
50814	NSDHL	HP:0007431	Congenital ichthyosiform erythroderma
50814	NSDHL	HP:0006101	Finger syndactyly
50814	NSDHL	HP:0002538	Abnormal cerebral cortex morphology
50814	NSDHL	HP:0003826	Stillbirth
50814	NSDHL	HP:0001374	Congenital hip dislocation
50814	NSDHL	HP:0001371	Flexion contracture
50814	NSDHL	HP:0001382	Joint hypermobility
50814	NSDHL	HP:0008883	Mild intrauterine growth retardation
50814	NSDHL	HP:0008839	Hypoplastic pelvis
50814	NSDHL	HP:0001302	Pachygyria
50814	NSDHL	HP:0002650	Scoliosis
50814	NSDHL	HP:0000122	Unilateral renal agenesis
50814	NSDHL	HP:0025406	Asthenia
50814	NSDHL	HP:0000126	Hydronephrosis
50814	NSDHL	HP:0001423	X-linked dominant inheritance
50814	NSDHL	HP:0002751	Kyphoscoliosis
50814	NSDHL	HP:0001419	X-linked recessive inheritance
50814	NSDHL	HP:0004692	4-5 toe syndactyly
50814	NSDHL	HP:0005990	Thyroid hypoplasia
50814	NSDHL	HP:0003307	Hyperlordosis
50814	NSDHL	HP:0002089	Pulmonary hypoplasia
50814	NSDHL	HP:0009438	Absent middle phalanx of 3rd finger
50814	NSDHL	HP:0009429	Aplasia of the distal phalanx of the 3rd finger
50814	NSDHL	HP:0003465	Elevated 8(9)-cholestenol
50814	NSDHL	HP:0003462	Elevated 8-dehydrocholesterol
50814	NSDHL	HP:0002126	Polymicrogyria
50814	NSDHL	HP:0009576	Absent middle phalanx of 2nd finger
50814	NSDHL	HP:0009565	Aplasia of the distal phalanx of the 2nd finger
50814	NSDHL	HP:0010511	Long toe
50814	NSDHL	HP:0003577	Congenital onset
50814	NSDHL	HP:0008417	Vertebral hypoplasia
50814	NSDHL	HP:0010692	2-5 finger syndactyly
50814	NSDHL	HP:0010655	Epiphyseal stippling
50814	NSDHL	HP:0002381	Aphasia
50814	NSDHL	HP:0001036	Parakeratosis
50814	NSDHL	HP:0002360	Sleep disturbance
50814	NSDHL	HP:0025092	Epidermal acanthosis
50814	NSDHL	HP:0010816	Epidermal nevus
50814	NSDHL	HP:0010783	Erythema
50814	NSDHL	HP:0010760	Absent toe
50814	NSDHL	HP:0000678	Dental crowding
50814	NSDHL	HP:0004322	Short stature
50814	NSDHL	HP:0000752	Hyperactivity
50814	NSDHL	HP:0000737	Irritability
50814	NSDHL	HP:0000750	Delayed speech and language development
50814	NSDHL	HP:0000718	Aggressive behavior
50814	NSDHL	HP:0000708	Atypical behavior
50814	NSDHL	HP:0000773	Short ribs
50814	NSDHL	HP:0003107	Abnormal circulating cholesterol concentration
50814	NSDHL	HP:0003103	Abnormal cortical bone morphology
50814	NSDHL	HP:0000882	Hypoplastic scapulae
50814	NSDHL	HP:0000835	Adrenal hypoplasia
50814	NSDHL	HP:0000894	Short clavicles
50814	NSDHL	HP:0000954	Single transverse palmar crease
50814	NSDHL	HP:0000962	Hyperkeratosis
50814	NSDHL	HP:0040162	Orthokeratosis
50814	NSDHL	HP:0000286	Epicanthus
50814	NSDHL	HP:0000278	Retrognathia
50814	NSDHL	HP:0001596	Alopecia
50814	NSDHL	HP:0000275	Narrow face
50814	NSDHL	HP:0000276	Long face
50814	NSDHL	HP:0000272	Malar flattening
50814	NSDHL	HP:0002808	Kyphosis
50814	NSDHL	HP:0000252	Microcephaly
50814	NSDHL	HP:0000218	High palate
50814	NSDHL	HP:0001537	Umbilical hernia
50814	NSDHL	HP:0001533	Slender build
50814	NSDHL	HP:0000204	Cleft upper lip
50814	NSDHL	HP:0007874	Almond-shaped palpebral fissure
50814	NSDHL	HP:0002938	Lumbar hyperlordosis
50814	NSDHL	HP:0000365	Hearing impairment
50814	NSDHL	HP:0000358	Posteriorly rotated ears
50814	NSDHL	HP:0001671	Abnormal cardiac septum morphology
50814	NSDHL	HP:0000347	Micrognathia
50814	NSDHL	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
50814	NSDHL	HP:0000308	Microretrognathia
50814	NSDHL	HP:0005280	Depressed nasal bridge
50814	NSDHL	HP:0000486	Strabismus
50814	NSDHL	HP:0001792	Small nail
50814	NSDHL	HP:0001750	Single ventricle
50814	NSDHL	HP:0000426	Prominent nasal bridge
50814	NSDHL	HP:0011297	Abnormal digit morphology
50814	NSDHL	HP:0000582	Upslanted palpebral fissure
50833	TAS2R16	HP:0001426	Multifactorial inheritance
50833	TAS2R16	HP:0030955	Alcoholism
50846	DHH	HP:0002460	Distal muscle weakness
50846	DHH	HP:0001271	Polyneuropathy
50846	DHH	HP:0001265	Hyporeflexia
50846	DHH	HP:0008715	Testicular dysgenesis
50846	DHH	HP:0008723	Gonadal dysgenesis with female appearance, male
50846	DHH	HP:0008697	Hypoplasia of the fallopian tube
50846	DHH	HP:0008668	Gonadal dysgenesis, male
50846	DHH	HP:0000044	Hypogonadotropic hypogonadism
50846	DHH	HP:0000037	Male pseudohermaphroditism
50846	DHH	HP:0000055	Abnormality of female external genitalia
50846	DHH	HP:0000026	Male hypogonadism
50846	DHH	HP:0000013	Hypoplasia of the uterus
50846	DHH	HP:0000007	Autosomal recessive inheritance
50846	DHH	HP:0001315	Reduced tendon reflexes
50846	DHH	HP:0000142	Abnormal vagina morphology
50846	DHH	HP:0000150	Gonadoblastoma
50846	DHH	HP:0000147	Polycystic ovaries
50846	DHH	HP:0000133	Gonadal dysgenesis
50846	DHH	HP:0003376	Steppage gait
50846	DHH	HP:0003380	Decreased number of peripheral myelinated nerve fibers
50846	DHH	HP:0010464	Streak ovary
50846	DHH	HP:0003434	Sensory ataxic neuropathy
50846	DHH	HP:0003409	Distal sensory impairment of all modalities
50846	DHH	HP:0008214	Decreased serum estradiol
50846	DHH	HP:0003577	Congenital onset
50846	DHH	HP:0009714	Abnormal epididymis morphology
50846	DHH	HP:0100621	Dysgerminoma
50846	DHH	HP:0007141	Sensorimotor neuropathy
50846	DHH	HP:0006886	Impaired distal vibration sensation
50846	DHH	HP:0006937	Impaired distal tactile sensation
50846	DHH	HP:0000789	Infertility
50846	DHH	HP:0000786	Primary amenorrhea
50846	DHH	HP:0003134	Abnormality of peripheral nerve conduction
50846	DHH	HP:0003130	Abnormal peripheral myelination
50846	DHH	HP:0000837	Increased circulating gonadotropin level
50846	DHH	HP:0000815	Hypergonadotropic hypogonadism
50846	DHH	HP:0003202	Skeletal muscle atrophy
50846	DHH	HP:0045010	Abnormality of peripheral nerves
50846	DHH	HP:0040171	Decreased serum testosterone concentration
50846	DHH	HP:0012245	Sex reversal
50846	DHH	HP:0001761	Pes cavus
50937	CDON	HP:0002465	Poor speech
50937	CDON	HP:0002474	Expressive language delay
50937	CDON	HP:0002451	Limb dystonia
50937	CDON	HP:0007301	Oromotor apraxia
50937	CDON	HP:0009932	Single naris
50937	CDON	HP:0009914	Cyclopia
50937	CDON	HP:0002418	Abnormal midbrain morphology
50937	CDON	HP:0003745	Sporadic
50937	CDON	HP:0001290	Generalized hypotonia
50937	CDON	HP:0001274	Agenesis of corpus callosum
50937	CDON	HP:0001273	Abnormal corpus callosum morphology
50937	CDON	HP:0001254	Lethargy
50937	CDON	HP:0001250	Seizure
50937	CDON	HP:0001249	Intellectual disability
50937	CDON	HP:0001263	Global developmental delay
50937	CDON	HP:0001257	Spasticity
50937	CDON	HP:0100842	Septo-optic dysplasia
50937	CDON	HP:0008736	Hypoplasia of penis
50937	CDON	HP:0007375	Abnormal septum pellucidum morphology
50937	CDON	HP:0002540	Inability to walk
50937	CDON	HP:0003828	Variable expressivity
50937	CDON	HP:0000062	Ambiguous genitalia
50937	CDON	HP:0001371	Flexion contracture
50937	CDON	HP:0001355	Megalencephaly
50937	CDON	HP:0001360	Holoprosencephaly
50937	CDON	HP:0000028	Cryptorchidism
50937	CDON	HP:0001328	Specific learning disability
50937	CDON	HP:0001344	Absent speech
50937	CDON	HP:0000006	Autosomal dominant inheritance
50937	CDON	HP:0002650	Scoliosis
50937	CDON	HP:0000193	Bifid uvula
50937	CDON	HP:0000161	Median cleft lip
50937	CDON	HP:0000175	Cleft palate
50937	CDON	HP:0410030	Cleft lip
50937	CDON	HP:0006315	Solitary median maxillary central incisor
50937	CDON	HP:0008947	Infantile muscular hypotonia
50937	CDON	HP:0012110	Hypoplasia of the pons
50937	CDON	HP:0000119	Abnormality of the genitourinary system
50937	CDON	HP:0002793	Abnormal pattern of respiration
50937	CDON	HP:0000104	Renal agenesis
50937	CDON	HP:0002020	Gastroesophageal reflux
50937	CDON	HP:0002019	Constipation
50937	CDON	HP:0002033	Poor suck
50937	CDON	HP:0002015	Dysphagia
50937	CDON	HP:0002013	Vomiting
50937	CDON	HP:0040327	Abnormal morphology of the olfactory bulb
50937	CDON	HP:0005968	Temperature instability
50937	CDON	HP:0002099	Asthma
50937	CDON	HP:0011755	Ectopic posterior pituitary
50937	CDON	HP:0011787	Central hypothyroidism
50937	CDON	HP:0003468	Abnormal vertebral morphology
50937	CDON	HP:0003458	EMG: myopathic abnormalities
50937	CDON	HP:0002270	Abnormality of the autonomic nervous system
50937	CDON	HP:0100704	Cerebral visual impairment
50937	CDON	HP:0100710	Impulsivity
50937	CDON	HP:0002247	Duodenal atresia
50937	CDON	HP:0010654	Aplasia of the falx cerebri
50937	CDON	HP:0007018	Attention deficit hyperactivity disorder
50937	CDON	HP:0010644	Midnasal stenosis
50937	CDON	HP:0011968	Feeding difficulties
50937	CDON	HP:0011951	Aspiration pneumonia
50937	CDON	HP:0002363	Abnormal brainstem morphology
50937	CDON	HP:0001028	Hemangioma
50937	CDON	HP:0010804	Tented upper lip vermilion
50937	CDON	HP:0009800	Maternal diabetes
50937	CDON	HP:0031860	Abnormal heart rate variability
50937	CDON	HP:0000612	Iris coloboma
50937	CDON	HP:0001943	Hypoglycemia
50937	CDON	HP:0000601	Hypotelorism
50937	CDON	HP:0009062	Infantile axial hypotonia
50937	CDON	HP:0012650	Perisylvian polymicrogyria
50937	CDON	HP:0000664	Synophrys
50937	CDON	HP:0004322	Short stature
50937	CDON	HP:0006979	Sleep-wake cycle disturbance
50937	CDON	HP:0030680	Abnormality of cardiovascular system morphology
50937	CDON	HP:0031913	Rhombencephalosynapsis
50937	CDON	HP:0000772	Abnormal rib morphology
50937	CDON	HP:0000737	Irritability
50937	CDON	HP:0000739	Anxiety
50937	CDON	HP:0000736	Short attention span
50937	CDON	HP:0012718	Morphological abnormality of the gastrointestinal tract
50937	CDON	HP:0000741	Apathy
50937	CDON	HP:0000716	Depression
50937	CDON	HP:0000708	Atypical behavior
50937	CDON	HP:0011471	Gastrostomy tube feeding in infancy
50937	CDON	HP:0011442	Abnormal central motor function
50937	CDON	HP:0000786	Primary amenorrhea
50937	CDON	HP:0003196	Short nose
50937	CDON	HP:0000924	Abnormality of the skeletal system
50937	CDON	HP:0004478	Ethmoidal encephalocele
50937	CDON	HP:0000873	Diabetes insipidus
50937	CDON	HP:0000871	Panhypopituitarism
50937	CDON	HP:0000864	Abnormality of the hypothalamus-pituitary axis
50937	CDON	HP:0000863	Central diabetes insipidus
50937	CDON	HP:0000835	Adrenal hypoplasia
50937	CDON	HP:0000830	Anterior hypopituitarism
50937	CDON	HP:0012806	Proboscis
50937	CDON	HP:0000818	Abnormality of the endocrine system
50937	CDON	HP:0000826	Precocious puberty
50937	CDON	HP:0000821	Hypothyroidism
50937	CDON	HP:0000824	Decreased response to growth hormone stimulation test
50937	CDON	HP:0000823	Delayed puberty
50937	CDON	HP:0040064	Abnormality of limbs
50937	CDON	HP:0045005	Neural tube defect
50937	CDON	HP:0012285	Abnormal hypothalamus physiology
50937	CDON	HP:0000256	Macrocephaly
50937	CDON	HP:0002827	Hip dislocation
50937	CDON	HP:0000238	Hydrocephalus
50937	CDON	HP:0000252	Microcephaly
50937	CDON	HP:0000218	High palate
50937	CDON	HP:0001545	Anteriorly placed anus
50937	CDON	HP:0001522	Death in infancy
50937	CDON	HP:0002871	Central apnea
50937	CDON	HP:0000202	Orofacial cleft
50937	CDON	HP:0001508	Failure to thrive
50937	CDON	HP:0001511	Intrauterine growth retardation
50937	CDON	HP:0001510	Growth delay
50937	CDON	HP:0006528	Chronic lung disease
50937	CDON	HP:0001680	Coarctation of aorta
50937	CDON	HP:0000322	Short philtrum
50937	CDON	HP:0001627	Abnormal heart morphology
50937	CDON	HP:0001622	Premature birth
50937	CDON	HP:0001636	Tetralogy of Fallot
50937	CDON	HP:0000407	Sensorineural hearing impairment
50937	CDON	HP:0000486	Strabismus
50937	CDON	HP:0000478	Abnormality of the eye
50937	CDON	HP:0000463	Anteverted nares
50937	CDON	HP:0000457	Depressed nasal ridge
50937	CDON	HP:0000453	Choanal atresia
50937	CDON	HP:0000446	Narrow nasal bridge
50937	CDON	HP:0001748	Polysplenia
50937	CDON	HP:0000520	Proptosis
50937	CDON	HP:0000574	Thick eyebrow
50939	IMPG2	HP:0001139	Choroideremia
50939	IMPG2	HP:0001123	Visual field defect
50939	IMPG2	HP:0001249	Intellectual disability
50939	IMPG2	HP:0008736	Hypoplasia of penis
50939	IMPG2	HP:0001347	Hyperreflexia
50939	IMPG2	HP:0000035	Abnormal testis morphology
50939	IMPG2	HP:0000007	Autosomal recessive inheritance
50939	IMPG2	HP:0000006	Autosomal dominant inheritance
50939	IMPG2	HP:0000135	Hypogonadism
50939	IMPG2	HP:0007675	Progressive night blindness
50939	IMPG2	HP:0007677	Vitelliform-like macular lesions
50939	IMPG2	HP:0007663	Reduced visual acuity
50939	IMPG2	HP:0005978	Type II diabetes mellitus
50939	IMPG2	HP:0003596	Middle age onset
50939	IMPG2	HP:0003584	Late onset
50939	IMPG2	HP:0003621	Juvenile onset
50939	IMPG2	HP:0030515	Moderately reduced visual acuity
50939	IMPG2	HP:0000639	Nystagmus
50939	IMPG2	HP:0000648	Optic atrophy
50939	IMPG2	HP:0000618	Blindness
50939	IMPG2	HP:0000613	Photophobia
50939	IMPG2	HP:0000602	Ophthalmoplegia
50939	IMPG2	HP:0000603	Central scotoma
50939	IMPG2	HP:0000662	Nyctalopia
50939	IMPG2	HP:0100018	Nuclear cataract
50939	IMPG2	HP:0011463	Childhood onset
50939	IMPG2	HP:0011462	Young adult onset
50939	IMPG2	HP:0000842	Hyperinsulinemia
50939	IMPG2	HP:0030856	Posterior staphyloma
50939	IMPG2	HP:0000987	Atypical scarring of skin
50939	IMPG2	HP:0008046	Abnormal retinal vascular morphology
50939	IMPG2	HP:0007722	Retinal pigment epithelial atrophy
50939	IMPG2	HP:0007703	Abnormality of retinal pigmentation
50939	IMPG2	HP:0007787	Posterior subcapsular cataract
50939	IMPG2	HP:0007754	Macular dystrophy
50939	IMPG2	HP:0007737	Bone spicule pigmentation of the retina
50939	IMPG2	HP:0007730	Iris hypopigmentation
50939	IMPG2	HP:0001513	Obesity
50939	IMPG2	HP:0007843	Attenuation of retinal blood vessels
50939	IMPG2	HP:0007899	Retinal nonattachment
50939	IMPG2	HP:0000407	Sensorineural hearing impairment
50939	IMPG2	HP:0000405	Conductive hearing impairment
50939	IMPG2	HP:0000478	Abnormality of the eye
50939	IMPG2	HP:0000463	Anteverted nares
50939	IMPG2	HP:0000431	Wide nasal bridge
50939	IMPG2	HP:0000518	Cataract
50939	IMPG2	HP:0000510	Rod-cone dystrophy
50939	IMPG2	HP:0000512	Abnormal electroretinogram
50939	IMPG2	HP:0000505	Visual impairment
50939	IMPG2	HP:0000504	Abnormality of vision
50939	IMPG2	HP:0000501	Glaucoma
50939	IMPG2	HP:0000580	Pigmentary retinopathy
50939	IMPG2	HP:0000563	Keratoconus
50939	IMPG2	HP:0000551	Color vision defect
50939	IMPG2	HP:0000543	Optic disc pallor
50940	PDE11A	HP:0003701	Proximal muscle weakness
50940	PDE11A	HP:0001297	Stroke
50940	PDE11A	HP:0100814	Blue nevus
50940	PDE11A	HP:0001268	Mental deterioration
50940	PDE11A	HP:0025274	Ovarian dermoid cyst
50940	PDE11A	HP:0025383	Dorsocervical fat pad
50940	PDE11A	HP:0000098	Tall stature
50940	PDE11A	HP:0001397	Hepatic steatosis
50940	PDE11A	HP:0012041	Decreased fertility in males
50940	PDE11A	HP:0012030	Increased urinary cortisol level
50940	PDE11A	HP:0000053	Macroorchidism
50940	PDE11A	HP:0025318	Ovarian carcinoma
50940	PDE11A	HP:0007565	Multiple cafe-au-lait spots
50940	PDE11A	HP:0007552	Abnormal subcutaneous fat tissue distribution
50940	PDE11A	HP:0002659	Increased susceptibility to fractures
50940	PDE11A	HP:0001324	Muscle weakness
50940	PDE11A	HP:0000008	Abnormal morphology of female internal genitalia
50940	PDE11A	HP:0000006	Autosomal dominant inheritance
50940	PDE11A	HP:0000199	Tongue nodules
50940	PDE11A	HP:0025451	Testicular adrenal rest tumor
50940	PDE11A	HP:0000138	Ovarian cyst
50940	PDE11A	HP:0500011	Moon facies
50940	PDE11A	HP:0001402	Hepatocellular carcinoma
50940	PDE11A	HP:0005978	Type II diabetes mellitus
50940	PDE11A	HP:0100543	Cognitive impairment
50940	PDE11A	HP:0011760	Pituitary growth hormone cell adenoma
50940	PDE11A	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
50940	PDE11A	HP:0008221	Adrenal hyperplasia
50940	PDE11A	HP:0100737	Abnormal hard palate morphology
50940	PDE11A	HP:0100751	Esophageal neoplasm
50940	PDE11A	HP:0100743	Neoplasm of the rectum
50940	PDE11A	HP:0100754	Mania
50940	PDE11A	HP:0010619	Fibroadenoma of the breast
50940	PDE11A	HP:0001050	Plethora
50940	PDE11A	HP:0001065	Striae distensae
50940	PDE11A	HP:0001061	Acne
50940	PDE11A	HP:0001007	Hirsutism
50940	PDE11A	HP:0002354	Memory impairment
50940	PDE11A	HP:0001003	Multiple lentigines
50940	PDE11A	HP:0100619	Sertoli cell neoplasm
50940	PDE11A	HP:0100618	Leydig cell neoplasia
50940	PDE11A	HP:0001074	Atypical nevi in non-sun exposed areas
50940	PDE11A	HP:0100638	Neoplasm of the pharynx
50940	PDE11A	HP:0010785	Gonadal neoplasm
50940	PDE11A	HP:0010788	Testicular neoplasm
50940	PDE11A	HP:0007126	Proximal amyotrophy
50940	PDE11A	HP:0010732	Nodular changes affecting the eyelids
50940	PDE11A	HP:0003621	Juvenile onset
50940	PDE11A	HP:0004944	Dilatation of the cerebral artery
50940	PDE11A	HP:0031845	Abnormal libido
50940	PDE11A	HP:0005585	Spotty hyperpigmentation
50940	PDE11A	HP:0001956	Truncal obesity
50940	PDE11A	HP:0001952	Glucose intolerance
50940	PDE11A	HP:0001907	Thromboembolism
50940	PDE11A	HP:0004324	Increased body weight
50940	PDE11A	HP:0003077	Hyperlipidemia
50940	PDE11A	HP:0100013	Neoplasm of the breast
50940	PDE11A	HP:0012743	Abdominal obesity
50940	PDE11A	HP:0100008	Schwannoma
50940	PDE11A	HP:0000771	Gynecomastia
50940	PDE11A	HP:0000739	Anxiety
50940	PDE11A	HP:0000716	Depression
50940	PDE11A	HP:0000712	Emotional lability
50940	PDE11A	HP:0000713	Agitation
50940	PDE11A	HP:0000725	Psychotic episodes
50940	PDE11A	HP:0000709	Psychosis
50940	PDE11A	HP:0000708	Atypical behavior
50940	PDE11A	HP:0011462	Young adult onset
50940	PDE11A	HP:0000798	Oligospermia
50940	PDE11A	HP:0000787	Nephrolithiasis
50940	PDE11A	HP:0003118	Increased circulating cortisol level
50940	PDE11A	HP:0000858	Irregular menstruation
50940	PDE11A	HP:0000870	Increased circulating prolactin concentration
50940	PDE11A	HP:0000866	Euthyroid multinodular goiter
50940	PDE11A	HP:0000845	Elevated circulating growth hormone concentration
50940	PDE11A	HP:0000819	Diabetes mellitus
50940	PDE11A	HP:0000826	Precocious puberty
50940	PDE11A	HP:0000822	Hypertension
50940	PDE11A	HP:0012887	Ovarian serous cystadenoma
50940	PDE11A	HP:0000978	Bruising susceptibility
50940	PDE11A	HP:0000963	Thin skin
50940	PDE11A	HP:0000939	Osteoporosis
50940	PDE11A	HP:0000938	Osteopenia
50940	PDE11A	HP:0011672	Cardiac myxoma
50940	PDE11A	HP:0001596	Alopecia
50940	PDE11A	HP:0030075	Ductal carcinoma in situ
50940	PDE11A	HP:0030072	Paranasal sinus neoplasm
50940	PDE11A	HP:0002808	Kyphosis
50940	PDE11A	HP:0001580	Pigmented micronodular adrenocortical disease
50940	PDE11A	HP:0001579	Primary hypercortisolism
50940	PDE11A	HP:0012206	Abnormal sperm motility
50940	PDE11A	HP:0002894	Neoplasm of the pancreas
50940	PDE11A	HP:0002895	Papillary thyroid carcinoma
50940	PDE11A	HP:0002893	Pituitary adenoma
50940	PDE11A	HP:0002890	Thyroid carcinoma
50940	PDE11A	HP:0030038	Enchondroma
50940	PDE11A	HP:0001507	Growth abnormality
50940	PDE11A	HP:0001510	Growth delay
50940	PDE11A	HP:0002910	Elevated hepatic transaminase
50940	PDE11A	HP:0002920	Decreased circulating ACTH level
50940	PDE11A	HP:0000311	Round face
50940	PDE11A	HP:0001635	Congestive heart failure
50940	PDE11A	HP:0001733	Pancreatitis
50940	PDE11A	HP:0030269	Increased circulating insulin-like growth factor 1 concentration
50940	PDE11A	HP:0006753	Neoplasm of the stomach
50940	PDE11A	HP:0006731	Follicular thyroid carcinoma
50940	PDE11A	HP:0030428	Cutaneous myxoma
50943	FOXP3	HP:0003765	Psoriasiform dermatitis
50943	FOXP3	HP:0025156	Dependency on intravenous nutrition
50943	FOXP3	HP:0100806	Sepsis
50943	FOXP3	HP:0001287	Meningitis
50943	FOXP3	HP:0001250	Seizure
50943	FOXP3	HP:0002583	Colitis
50943	FOXP3	HP:0002595	Ileus
50943	FOXP3	HP:0001263	Global developmental delay
50943	FOXP3	HP:0031085	Decreased prealbumin level
50943	FOXP3	HP:0000099	Glomerulonephritis
50943	FOXP3	HP:0025379	Anti-thyroid peroxidase antibody positivity
50943	FOXP3	HP:0001369	Arthritis
50943	FOXP3	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity
50943	FOXP3	HP:0007473	Crusting erythematous dermatitis
50943	FOXP3	HP:0031104	Insulin receptor antibody positivity
50943	FOXP3	HP:0031123	Recurrent gastroenteritis
50943	FOXP3	HP:0012115	Hepatitis
50943	FOXP3	HP:0500093	Food allergy
50943	FOXP3	HP:0000100	Nephrotic syndrome
50943	FOXP3	HP:0002754	Osteomyelitis
50943	FOXP3	HP:0001419	X-linked recessive inheritance
50943	FOXP3	HP:0002719	Recurrent infections
50943	FOXP3	HP:0002716	Lymphadenopathy
50943	FOXP3	HP:0002024	Malabsorption
50943	FOXP3	HP:0002028	Chronic diarrhea
50943	FOXP3	HP:0002013	Vomiting
50943	FOXP3	HP:0030909	Anti-liver cytosolic antigen type 1 antibody positivity
50943	FOXP3	HP:0002098	Respiratory distress
50943	FOXP3	HP:0002090	Pneumonia
50943	FOXP3	HP:0040288	Nasogastric tube feeding
50943	FOXP3	HP:0002119	Ventriculomegaly
50943	FOXP3	HP:0003593	Infantile onset
50943	FOXP3	HP:0002242	Abnormal intestine morphology
50943	FOXP3	HP:0002205	Recurrent respiratory infections
50943	FOXP3	HP:0008404	Nail dystrophy
50943	FOXP3	HP:0004844	Coombs-positive hemolytic anemia
50943	FOXP3	HP:0001025	Urticaria
50943	FOXP3	HP:0001019	Erythroderma
50943	FOXP3	HP:0100651	Type I diabetes mellitus
50943	FOXP3	HP:0100646	Thyroiditis
50943	FOXP3	HP:0100614	Myositis
50943	FOXP3	HP:0032169	Severe infection
50943	FOXP3	HP:0001970	Tubulointerstitial nephritis
50943	FOXP3	HP:0001973	Autoimmune thrombocytopenia
50943	FOXP3	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
50943	FOXP3	HP:0001903	Anemia
50943	FOXP3	HP:0004326	Cachexia
50943	FOXP3	HP:0003073	Hypoalbuminemia
50943	FOXP3	HP:0011473	Villous atrophy
50943	FOXP3	HP:0003111	Abnormal blood ion concentration
50943	FOXP3	HP:0000836	Hyperthyroidism
50943	FOXP3	HP:0000818	Abnormality of the endocrine system
50943	FOXP3	HP:0000821	Hypothyroidism
50943	FOXP3	HP:0003212	Increased circulating IgE level
50943	FOXP3	HP:0000976	Eczematoid dermatitis
50943	FOXP3	HP:0000964	Eczema
50943	FOXP3	HP:0008066	Abnormal blistering of the skin
50943	FOXP3	HP:0001596	Alopecia
50943	FOXP3	HP:0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
50943	FOXP3	HP:0001581	Recurrent skin infections
50943	FOXP3	HP:0001531	Failure to thrive in infancy
50943	FOXP3	HP:0001508	Failure to thrive
50943	FOXP3	HP:0012393	Allergy
50943	FOXP3	HP:0005263	Gastritis
50943	FOXP3	HP:0005208	Secretory diarrhea
50943	FOXP3	HP:0006515	Interstitial pneumonitis
50943	FOXP3	HP:0002917	Hypomagnesemia
50943	FOXP3	HP:0002910	Elevated hepatic transaminase
50943	FOXP3	HP:0002901	Hypocalcemia
50943	FOXP3	HP:0002960	Autoimmunity
50943	FOXP3	HP:0002958	Immune dysregulation
50943	FOXP3	HP:0011123	Inflammatory abnormality of the skin
50943	FOXP3	HP:0001744	Splenomegaly
50943	FOXP3	HP:0012578	Membranous nephropathy
50943	FOXP3	HP:0001891	Iron deficiency anemia
50943	FOXP3	HP:0001890	Autoimmune hemolytic anemia
50943	FOXP3	HP:0001880	Eosinophilia
50943	FOXP3	HP:0001873	Thrombocytopenia
50943	FOXP3	HP:0001875	Neutropenia
50945	TBX22	HP:0001156	Brachydactyly
50945	TBX22	HP:0008743	Coronal hypospadias
50945	TBX22	HP:0000047	Hypospadias
50945	TBX22	HP:0000028	Cryptorchidism
50945	TBX22	HP:0000193	Bifid uvula
50945	TBX22	HP:0000175	Cleft palate
50945	TBX22	HP:0000174	Abnormal palate morphology
50945	TBX22	HP:0001417	X-linked inheritance
50945	TBX22	HP:0100542	Abnormal localization of kidney
50945	TBX22	HP:0009465	Ulnar deviation of finger
50945	TBX22	HP:0010751	Dimple chin
50945	TBX22	HP:0000612	Iris coloboma
50945	TBX22	HP:0004322	Short stature
50945	TBX22	HP:0010296	Ankyloglossia
50945	TBX22	HP:0000286	Epicanthus
50945	TBX22	HP:0000272	Malar flattening
50945	TBX22	HP:0012368	Flat face
50945	TBX22	HP:0000365	Hearing impairment
50945	TBX22	HP:0002974	Radioulnar synostosis
50945	TBX22	HP:0001631	Atrial septal defect
50945	TBX22	HP:0000407	Sensorineural hearing impairment
50945	TBX22	HP:0000405	Conductive hearing impairment
50945	TBX22	HP:0000400	Macrotia
50945	TBX22	HP:0000482	Microcornea
50945	TBX22	HP:0001770	Toe syndactyly
50945	TBX22	HP:0000411	Protruding ear
50945	TBX22	HP:0001831	Short toe
50945	TBX22	HP:0000589	Coloboma
50945	TBX22	HP:0000567	Chorioretinal coloboma
50964	SOST	HP:0001159	Syndactyly
50964	SOST	HP:0001133	Constriction of peripheral visual field
50964	SOST	HP:0007285	Facial palsy secondary to cranial hyperostosis
50964	SOST	HP:0001249	Intellectual disability
50964	SOST	HP:0001233	2-3 finger syndactyly
50964	SOST	HP:0006101	Finger syndactyly
50964	SOST	HP:0002516	Increased intracranial pressure
50964	SOST	HP:0000098	Tall stature
50964	SOST	HP:0001349	Facial diplegia
50964	SOST	HP:0002690	Large sella turcica
50964	SOST	HP:0000007	Autosomal recessive inheritance
50964	SOST	HP:0000006	Autosomal dominant inheritance
50964	SOST	HP:0002644	Abnormal pelvic girdle bone morphology
50964	SOST	HP:0001474	Sclerotic scapulae
50964	SOST	HP:0005019	Diaphyseal thickening
50964	SOST	HP:0002007	Frontal bossing
50964	SOST	HP:0011800	Midface retrusion
50964	SOST	HP:0100543	Cognitive impairment
50964	SOST	HP:0002164	Nail dysplasia
50964	SOST	HP:0003593	Infantile onset
50964	SOST	HP:0100798	Fingernail dysplasia
50964	SOST	HP:0100729	Large face
50964	SOST	HP:0010628	Facial palsy
50964	SOST	HP:0003676	Progressive
50964	SOST	HP:0002315	Headache
50964	SOST	HP:0009838	Curved distal phalanges of the hand
50964	SOST	HP:0001085	Papilledema
50964	SOST	HP:0000639	Nystagmus
50964	SOST	HP:0000648	Optic atrophy
50964	SOST	HP:0000622	Blurred vision
50964	SOST	HP:0000692	Tooth malposition
50964	SOST	HP:0000689	Dental malocclusion
50964	SOST	HP:0004322	Short stature
50964	SOST	HP:0005652	Cortical sclerosis
50964	SOST	HP:0003034	Diaphyseal sclerosis
50964	SOST	HP:0000772	Abnormal rib morphology
50964	SOST	HP:0011421	Death in adolescence
50964	SOST	HP:0004437	Cranial hyperostosis
50964	SOST	HP:0003103	Abnormal cortical bone morphology
50964	SOST	HP:0000916	Broad clavicles
50964	SOST	HP:0000900	Thickened ribs
50964	SOST	HP:0003155	Elevated circulating alkaline phosphatase concentration
50964	SOST	HP:0003165	Elevated circulating parathyroid hormone level
50964	SOST	HP:0004493	Craniofacial hyperostosis
50964	SOST	HP:0005789	Generalized osteosclerosis
50964	SOST	HP:0000889	Abnormal clavicle morphology
50964	SOST	HP:0000885	Broad ribs
50964	SOST	HP:0000858	Irregular menstruation
50964	SOST	HP:0004576	Sclerotic vertebral endplates
50964	SOST	HP:0000280	Coarse facial features
50964	SOST	HP:0000256	Macrocephaly
50964	SOST	HP:0000272	Malar flattening
50964	SOST	HP:0006415	Cortically dense long tubular bones
50964	SOST	HP:0002829	Arthralgia
50964	SOST	HP:0001548	Overgrowth
50964	SOST	HP:0000365	Hearing impairment
50964	SOST	HP:0000366	Abnormality of the nose
50964	SOST	HP:0001699	Sudden death
50964	SOST	HP:0011001	Increased bone mineral density
50964	SOST	HP:0000336	Prominent supraorbital ridges
50964	SOST	HP:0000316	Hypertelorism
50964	SOST	HP:0000303	Mandibular prognathia
50964	SOST	HP:0000407	Sensorineural hearing impairment
50964	SOST	HP:0000405	Conductive hearing impairment
50964	SOST	HP:0000402	Stenosis of the external auditory canal
50964	SOST	HP:0005280	Depressed nasal bridge
50964	SOST	HP:0011120	Concave nasal ridge
50964	SOST	HP:0000452	Choanal stenosis
50964	SOST	HP:0000431	Wide nasal bridge
50964	SOST	HP:0025709	Intermediate young adult onset
50964	SOST	HP:0005464	Craniofacial osteosclerosis
50964	SOST	HP:0000529	Progressive visual loss
50964	SOST	HP:0000520	Proptosis
50964	SOST	HP:0000508	Ptosis
50964	SOST	HP:0004097	Deviation of finger
50964	SOST	HP:0000572	Visual loss
50964	SOST	HP:0000565	Esotropia
51002	TPRKB	HP:0001181	Adducted thumb
51002	TPRKB	HP:0003774	Stage 5 chronic kidney disease
51002	TPRKB	HP:0002410	Aqueductal stenosis
51002	TPRKB	HP:0001276	Hypertonia
51002	TPRKB	HP:0001250	Seizure
51002	TPRKB	HP:0001252	Hypotonia
51002	TPRKB	HP:0001251	Ataxia
51002	TPRKB	HP:0001249	Intellectual disability
51002	TPRKB	HP:0001263	Global developmental delay
51002	TPRKB	HP:0001257	Spasticity
51002	TPRKB	HP:0010978	Abnormality of immune system physiology
51002	TPRKB	HP:0000097	Focal segmental glomerulosclerosis
51002	TPRKB	HP:0000093	Proteinuria
51002	TPRKB	HP:0000007	Autosomal recessive inheritance
51002	TPRKB	HP:0001302	Pachygyria
51002	TPRKB	HP:0000164	Abnormality of the dentition
51002	TPRKB	HP:0000100	Nephrotic syndrome
51002	TPRKB	HP:0000112	Nephropathy
51002	TPRKB	HP:0002036	Hiatus hernia
51002	TPRKB	HP:0100543	Cognitive impairment
51002	TPRKB	HP:0002119	Ventriculomegaly
51002	TPRKB	HP:0100490	Camptodactyly of finger
51002	TPRKB	HP:0002269	Abnormality of neuronal migration
51002	TPRKB	HP:0009748	Large earlobe
51002	TPRKB	HP:0100720	Hypoplasia of the ear cartilage
51002	TPRKB	HP:0002353	EEG abnormality
51002	TPRKB	HP:0000601	Hypotelorism
51002	TPRKB	HP:0004322	Short stature
51002	TPRKB	HP:0006970	Periventricular leukomalacia
51002	TPRKB	HP:0004374	Hemiplegia/hemiparesis
51002	TPRKB	HP:0011463	Childhood onset
51002	TPRKB	HP:0011451	Primary microcephaly
51002	TPRKB	HP:0000969	Edema
51002	TPRKB	HP:0000286	Epicanthus
51002	TPRKB	HP:0000276	Long face
51002	TPRKB	HP:0005108	Abnormal intervertebral disk morphology
51002	TPRKB	HP:0000252	Microcephaly
51002	TPRKB	HP:0001511	Intrauterine growth retardation
51002	TPRKB	HP:0000365	Hearing impairment
51002	TPRKB	HP:0000347	Micrognathia
51002	TPRKB	HP:0000316	Hypertelorism
51002	TPRKB	HP:0001622	Premature birth
51002	TPRKB	HP:0000303	Mandibular prognathia
51002	TPRKB	HP:0000400	Macrotia
51002	TPRKB	HP:0000490	Deeply set eye
51002	TPRKB	HP:0012444	Brain atrophy
51002	TPRKB	HP:0012588	Steroid-resistant nephrotic syndrome
51004	COQ6	HP:0003774	Stage 5 chronic kidney disease
51004	COQ6	HP:0001250	Seizure
51004	COQ6	HP:0000097	Focal segmental glomerulosclerosis
51004	COQ6	HP:0000093	Proteinuria
51004	COQ6	HP:0000007	Autosomal recessive inheritance
51004	COQ6	HP:0003593	Infantile onset
51004	COQ6	HP:0003678	Rapidly progressive
51004	COQ6	HP:0003621	Juvenile onset
51004	COQ6	HP:0001967	Diffuse mesangial sclerosis
51004	COQ6	HP:0011463	Childhood onset
51004	COQ6	HP:0000787	Nephrolithiasis
51004	COQ6	HP:0000407	Sensorineural hearing impairment
51004	COQ6	HP:0012588	Steroid-resistant nephrotic syndrome
51008	ASCC1	HP:0007269	Spinal muscular atrophy
51008	ASCC1	HP:0001290	Generalized hypotonia
51008	ASCC1	HP:0001284	Areflexia
51008	ASCC1	HP:0001263	Global developmental delay
51008	ASCC1	HP:0002536	Abnormal cortical gyration
51008	ASCC1	HP:0001371	Flexion contracture
51008	ASCC1	HP:0001324	Muscle weakness
51008	ASCC1	HP:0000007	Autosomal recessive inheritance
51008	ASCC1	HP:0002643	Neonatal respiratory distress
51008	ASCC1	HP:0001428	Somatic mutation
51008	ASCC1	HP:0002020	Gastroesophageal reflux
51008	ASCC1	HP:0002015	Dysphagia
51008	ASCC1	HP:0002089	Pulmonary hypoplasia
51008	ASCC1	HP:0100580	Barrett esophagus
51008	ASCC1	HP:0003477	Peripheral axonal neuropathy
51008	ASCC1	HP:0003447	Axonal loss
51008	ASCC1	HP:0004791	Esophageal ulceration
51008	ASCC1	HP:0003577	Congenital onset
51008	ASCC1	HP:0003557	Increased variability in muscle fiber diameter
51008	ASCC1	HP:0006829	Severe muscular hypotonia
51008	ASCC1	HP:0011459	Esophageal carcinoma
51008	ASCC1	HP:0003202	Skeletal muscle atrophy
51008	ASCC1	HP:0005855	Multiple prenatal fractures
51008	ASCC1	HP:0002804	Arthrogryposis multiplex congenita
51008	ASCC1	HP:0002878	Respiratory failure
51008	ASCC1	HP:0001561	Polyhydramnios
51008	ASCC1	HP:0001558	Decreased fetal movement
51008	ASCC1	HP:0001643	Patent ductus arteriosus
51008	ASCC1	HP:0001655	Patent foramen ovale
51008	ASCC1	HP:0001622	Premature birth
51010	EXOSC3	HP:0002421	Poor head control
51010	EXOSC3	HP:0001290	Generalized hypotonia
51010	EXOSC3	HP:0001272	Cerebellar atrophy
51010	EXOSC3	HP:0001270	Motor delay
51010	EXOSC3	HP:0001250	Seizure
51010	EXOSC3	HP:0001252	Hypotonia
51010	EXOSC3	HP:0001251	Ataxia
51010	EXOSC3	HP:0001265	Hyporeflexia
51010	EXOSC3	HP:0001263	Global developmental delay
51010	EXOSC3	HP:0001257	Spasticity
51010	EXOSC3	HP:0007360	Aplasia/Hypoplasia of the cerebellum
51010	EXOSC3	HP:0001371	Flexion contracture
51010	EXOSC3	HP:0001347	Hyperreflexia
51010	EXOSC3	HP:0033725	Thin corpus callosum
51010	EXOSC3	HP:0001324	Muscle weakness
51010	EXOSC3	HP:0001344	Absent speech
51010	EXOSC3	HP:0000007	Autosomal recessive inheritance
51010	EXOSC3	HP:0001308	Tongue fasciculations
51010	EXOSC3	HP:0008936	Axial hypotonia
51010	EXOSC3	HP:0012110	Hypoplasia of the pons
51010	EXOSC3	HP:0002093	Respiratory insufficiency
51010	EXOSC3	HP:0002059	Cerebral atrophy
51010	EXOSC3	HP:0003477	Peripheral axonal neuropathy
51010	EXOSC3	HP:0002120	Cerebral cortical atrophy
51010	EXOSC3	HP:0003577	Congenital onset
51010	EXOSC3	HP:0004886	Congenital laryngeal stridor
51010	EXOSC3	HP:0011968	Feeding difficulties
51010	EXOSC3	HP:0002398	Degeneration of anterior horn cells
51010	EXOSC3	HP:0002350	Cerebellar cyst
51010	EXOSC3	HP:0000639	Nystagmus
51010	EXOSC3	HP:0000648	Optic atrophy
51010	EXOSC3	HP:0000657	Oculomotor apraxia
51010	EXOSC3	HP:0003202	Skeletal muscle atrophy
51010	EXOSC3	HP:0002827	Hip dislocation
51010	EXOSC3	HP:0002804	Arthrogryposis multiplex congenita
51010	EXOSC3	HP:0000253	Progressive microcephaly
51010	EXOSC3	HP:0002878	Respiratory failure
51010	EXOSC3	HP:0001508	Failure to thrive
51010	EXOSC3	HP:0001510	Growth delay
51010	EXOSC3	HP:0000486	Strabismus
51010	EXOSC3	HP:0012473	Tongue atrophy
51010	EXOSC3	HP:0001760	Abnormal foot morphology
51010	EXOSC3	HP:0000529	Progressive visual loss
51010	EXOSC3	HP:0000556	Retinal dystrophy
51010	EXOSC3	HP:0000565	Esotropia
51013	EXOSC1	HP:0001252	Hypotonia
51013	EXOSC1	HP:0001265	Hyporeflexia
51013	EXOSC1	HP:0001263	Global developmental delay
51013	EXOSC1	HP:0000007	Autosomal recessive inheritance
51013	EXOSC1	HP:0001321	Cerebellar hypoplasia
51013	EXOSC1	HP:0012110	Hypoplasia of the pons
51013	EXOSC1	HP:0002079	Hypoplasia of the corpus callosum
51013	EXOSC1	HP:0002059	Cerebral atrophy
51013	EXOSC1	HP:0002188	Delayed CNS myelination
51013	EXOSC1	HP:0000278	Retrognathia
51013	EXOSC1	HP:0000252	Microcephaly
51013	EXOSC1	HP:0001510	Growth delay
51013	EXOSC1	HP:0000343	Long philtrum
51013	EXOSC1	HP:0000348	High forehead
51013	EXOSC1	HP:0000319	Smooth philtrum
51013	EXOSC1	HP:0005280	Depressed nasal bridge
51013	EXOSC1	HP:0000486	Strabismus
51013	EXOSC1	HP:0012471	Thick vermilion border
51013	EXOSC1	HP:0000463	Anteverted nares
51013	EXOSC1	HP:0000506	Telecanthus
51013	EXOSC1	HP:0000592	Blue sclerae
51021	MRPS16	HP:0001156	Brachydactyly
51021	MRPS16	HP:0010952	Mild fetal ventriculomegaly
51021	MRPS16	HP:0001274	Agenesis of corpus callosum
51021	MRPS16	HP:0001254	Lethargy
51021	MRPS16	HP:0003811	Neonatal death
51021	MRPS16	HP:0008872	Feeding difficulties in infancy
51021	MRPS16	HP:0000007	Autosomal recessive inheritance
51021	MRPS16	HP:0001319	Neonatal hypotonia
51021	MRPS16	HP:0005989	Redundant neck skin
51021	MRPS16	HP:0002151	Increased serum lactate
51021	MRPS16	HP:0011924	Decreased activity of mitochondrial complex III
51021	MRPS16	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
51021	MRPS16	HP:0011923	Decreased activity of mitochondrial complex I
51021	MRPS16	HP:0003577	Congenital onset
51021	MRPS16	HP:0008347	Decreased activity of mitochondrial complex IV
51021	MRPS16	HP:0002375	Hypokinesia
51021	MRPS16	HP:0003128	Lactic acidosis
51021	MRPS16	HP:0000969	Edema
51021	MRPS16	HP:0001518	Small for gestational age
51021	MRPS16	HP:0002910	Elevated hepatic transaminase
51021	MRPS16	HP:0000369	Low-set ears
51021	MRPS16	HP:0001643	Patent ductus arteriosus
51025	PAM16	HP:0008551	Microtia
51025	PAM16	HP:0001263	Global developmental delay
51025	PAM16	HP:0008786	Iliac crest serration
51025	PAM16	HP:0002657	Spondylometaphyseal dysplasia
51025	PAM16	HP:0000007	Autosomal recessive inheritance
51025	PAM16	HP:0002645	Wormian bones
51025	PAM16	HP:0002617	Vascular dilatation
51025	PAM16	HP:0008936	Axial hypotonia
51025	PAM16	HP:0002789	Tachypnea
51025	PAM16	HP:0002750	Delayed skeletal maturation
51025	PAM16	HP:0002002	Deep philtrum
51025	PAM16	HP:0002007	Frontal bossing
51025	PAM16	HP:0002092	Pulmonary arterial hypertension
51025	PAM16	HP:0002375	Hypokinesia
51025	PAM16	HP:0008455	Dysplastic sacrum
51025	PAM16	HP:0004322	Short stature
51025	PAM16	HP:0003026	Short long bone
51025	PAM16	HP:0003021	Metaphyseal cupping
51025	PAM16	HP:0000774	Narrow chest
51025	PAM16	HP:0000773	Short ribs
51025	PAM16	HP:0003196	Short nose
51025	PAM16	HP:0003177	Squared iliac bones
51025	PAM16	HP:0003175	Hypoplastic ischia
51025	PAM16	HP:0000822	Hypertension
51025	PAM16	HP:0004565	Severe platyspondyly
51025	PAM16	HP:0001591	Bell-shaped thorax
51025	PAM16	HP:0000239	Large fontanelles
51025	PAM16	HP:0001518	Small for gestational age
51025	PAM16	HP:0000369	Low-set ears
51025	PAM16	HP:0002983	Micromelia
51025	PAM16	HP:0000311	Round face
51025	PAM16	HP:0001640	Cardiomegaly
51025	PAM16	HP:0005280	Depressed nasal bridge
51025	PAM16	HP:0000463	Anteverted nares
51025	PAM16	HP:0000470	Short neck
51025	PAM16	HP:0000445	Wide nose
51025	PAM16	HP:0011220	Prominent forehead
51053	GMNN	HP:0009939	Mandibular aplasia
51053	GMNN	HP:0009892	Anotia
51053	GMNN	HP:0008551	Microtia
51053	GMNN	HP:0009879	Simplified gyral pattern
51053	GMNN	HP:0001270	Motor delay
51053	GMNN	HP:0001249	Intellectual disability
51053	GMNN	HP:0001263	Global developmental delay
51053	GMNN	HP:0008736	Hypoplasia of penis
51053	GMNN	HP:0008665	Clitoral hypertrophy
51053	GMNN	HP:0000064	Hypoplastic labia minora
51053	GMNN	HP:0000060	Clitoral hypoplasia
51053	GMNN	HP:0000059	Hypoplastic labia majora
51053	GMNN	HP:0000039	Epispadias
51053	GMNN	HP:0001385	Hip dysplasia
51053	GMNN	HP:0000047	Hypospadias
51053	GMNN	HP:0001363	Craniosynostosis
51053	GMNN	HP:0000028	Cryptorchidism
51053	GMNN	HP:0001328	Specific learning disability
51053	GMNN	HP:0000006	Autosomal dominant inheritance
51053	GMNN	HP:0000193	Bifid uvula
51053	GMNN	HP:0000160	Narrow mouth
51053	GMNN	HP:0000176	Submucous cleft hard palate
51053	GMNN	HP:0000175	Cleft palate
51053	GMNN	HP:0002705	High, narrow palate
51053	GMNN	HP:0002786	Tracheobronchomalacia
51053	GMNN	HP:0002750	Delayed skeletal maturation
51053	GMNN	HP:0002020	Gastroesophageal reflux
51053	GMNN	HP:0002007	Frontal bossing
51053	GMNN	HP:0011800	Midface retrusion
51053	GMNN	HP:0002098	Respiratory distress
51053	GMNN	HP:0002097	Emphysema
51053	GMNN	HP:0002094	Dyspnea
51053	GMNN	HP:0005930	Abnormal epiphysis morphology
51053	GMNN	HP:0100490	Camptodactyly of finger
51053	GMNN	HP:0002205	Recurrent respiratory infections
51053	GMNN	HP:0100783	Breast aplasia
51053	GMNN	HP:0011968	Feeding difficulties
51053	GMNN	HP:0003510	Severe short stature
51053	GMNN	HP:0004209	Clinodactyly of the 5th finger
51053	GMNN	HP:0000621	Entropion
51053	GMNN	HP:0005692	Joint hyperflexibility
51053	GMNN	HP:0003042	Elbow dislocation
51053	GMNN	HP:0000772	Abnormal rib morphology
51053	GMNN	HP:0000750	Delayed speech and language development
51053	GMNN	HP:0003100	Slender long bone
51053	GMNN	HP:0003196	Short nose
51053	GMNN	HP:0000824	Decreased response to growth hormone stimulation test
51053	GMNN	HP:0000823	Delayed puberty
51053	GMNN	HP:0005819	Short middle phalanx of finger
51053	GMNN	HP:0000278	Retrognathia
51053	GMNN	HP:0006443	Patellar aplasia
51053	GMNN	HP:0000252	Microcephaly
51053	GMNN	HP:0002878	Respiratory failure
51053	GMNN	HP:0001537	Umbilical hernia
51053	GMNN	HP:0001508	Failure to thrive
51053	GMNN	HP:0001518	Small for gestational age
51053	GMNN	HP:0001511	Intrauterine growth retardation
51053	GMNN	HP:0001510	Growth delay
51053	GMNN	HP:0001601	Laryngomalacia
51053	GMNN	HP:0000365	Hearing impairment
51053	GMNN	HP:0000356	Abnormality of the outer ear
51053	GMNN	HP:0000358	Posteriorly rotated ears
51053	GMNN	HP:0000369	Low-set ears
51053	GMNN	HP:0000348	High forehead
51053	GMNN	HP:0000347	Micrognathia
51053	GMNN	HP:0000327	Hypoplasia of the maxilla
51053	GMNN	HP:0000308	Microretrognathia
51053	GMNN	HP:0006660	Aplastic clavicle
51053	GMNN	HP:0000405	Conductive hearing impairment
51053	GMNN	HP:0000402	Stenosis of the external auditory canal
51053	GMNN	HP:0005280	Depressed nasal bridge
51053	GMNN	HP:0000486	Strabismus
51053	GMNN	HP:0012471	Thick vermilion border
51053	GMNN	HP:0000494	Downslanted palpebral fissures
51053	GMNN	HP:0000463	Anteverted nares
51053	GMNN	HP:0012448	Delayed myelination
51053	GMNN	HP:0000457	Depressed nasal ridge
51053	GMNN	HP:0000413	Atresia of the external auditory canal
51053	GMNN	HP:0000430	Underdeveloped nasal alae
51053	GMNN	HP:0011267	Microtia, third degree
51053	GMNN	HP:0001852	Sandal gap
51057	WDPCP	HP:0001162	Postaxial hand polydactyly
51057	WDPCP	HP:0100835	Benign neoplasm of the central nervous system
51057	WDPCP	HP:0001249	Intellectual disability
51057	WDPCP	HP:0001263	Global developmental delay
51057	WDPCP	HP:0001233	2-3 finger syndactyly
51057	WDPCP	HP:0006101	Finger syndactyly
51057	WDPCP	HP:0008736	Hypoplasia of penis
51057	WDPCP	HP:0008724	Hypoplasia of the ovary
51057	WDPCP	HP:0001395	Hepatic fibrosis
51057	WDPCP	HP:0000028	Cryptorchidism
51057	WDPCP	HP:0000007	Autosomal recessive inheritance
51057	WDPCP	HP:0000003	Multicystic kidney dysplasia
51057	WDPCP	HP:0000135	Hypogonadism
51057	WDPCP	HP:0000100	Nephrotic syndrome
51057	WDPCP	HP:0004691	2-3 toe syndactyly
51057	WDPCP	HP:0011802	Hamartoma of tongue
51057	WDPCP	HP:0002167	Abnormality of speech or vocalization
51057	WDPCP	HP:0003577	Congenital onset
51057	WDPCP	HP:0002230	Generalized hirsutism
51057	WDPCP	HP:0011968	Feeding difficulties
51057	WDPCP	HP:0010747	Medial flaring of the eyebrow
51057	WDPCP	HP:0000639	Nystagmus
51057	WDPCP	HP:0010055	Broad hallux
51057	WDPCP	HP:0004322	Short stature
51057	WDPCP	HP:0005696	Postaxial polydactyly type A
51057	WDPCP	HP:0000822	Hypertension
51057	WDPCP	HP:0003202	Skeletal muscle atrophy
51057	WDPCP	HP:0000202	Orofacial cleft
51057	WDPCP	HP:0001513	Obesity
51057	WDPCP	HP:0000365	Hearing impairment
51057	WDPCP	HP:0000368	Low-set, posteriorly rotated ears
51057	WDPCP	HP:0001674	Complete atrioventricular canal defect
51057	WDPCP	HP:0001682	Subvalvular aortic stenosis
51057	WDPCP	HP:0001680	Coarctation of aorta
51057	WDPCP	HP:0000316	Hypertelorism
51057	WDPCP	HP:0001643	Patent ductus arteriosus
51057	WDPCP	HP:0000494	Downslanted palpebral fissures
51057	WDPCP	HP:0000470	Short neck
51057	WDPCP	HP:0000426	Prominent nasal bridge
51057	WDPCP	HP:0000512	Abnormal electroretinogram
51057	WDPCP	HP:0000580	Pigmentary retinopathy
51062	ATL1	HP:0002495	Impaired vibratory sensation
51062	ATL1	HP:0002460	Distal muscle weakness
51062	ATL1	HP:0100963	Hyperesthesia
51062	ATL1	HP:0001270	Motor delay
51062	ATL1	HP:0001288	Gait disturbance
51062	ATL1	HP:0001256	Intellectual disability, mild
51062	ATL1	HP:0001260	Dysarthria
51062	ATL1	HP:0001258	Spastic paraplegia
51062	ATL1	HP:0031060	Impaired ability to dress oneself
51062	ATL1	HP:0007340	Lower limb muscle weakness
51062	ATL1	HP:0002540	Inability to walk
51062	ATL1	HP:0003828	Variable expressivity
51062	ATL1	HP:0003829	Typified by incomplete penetrance
51062	ATL1	HP:0000020	Urinary incontinence
51062	ATL1	HP:0001347	Hyperreflexia
51062	ATL1	HP:0007550	Hypohidrosis or hyperhidrosis
51062	ATL1	HP:0007460	Autoamputation of digits
51062	ATL1	HP:0001324	Muscle weakness
51062	ATL1	HP:0000012	Urinary urgency
51062	ATL1	HP:0000006	Autosomal dominant inheritance
51062	ATL1	HP:0002650	Scoliosis
51062	ATL1	HP:0008944	Distal lower limb amyotrophy
51062	ATL1	HP:0002756	Pathologic fracture
51062	ATL1	HP:0002754	Osteomyelitis
51062	ATL1	HP:0002020	Gastroesophageal reflux
51062	ATL1	HP:0002067	Bradykinesia
51062	ATL1	HP:0002063	Rigidity
51062	ATL1	HP:0002064	Spastic gait
51062	ATL1	HP:0002061	Lower limb spasticity
51062	ATL1	HP:0002079	Hypoplasia of the corpus callosum
51062	ATL1	HP:0003376	Steppage gait
51062	ATL1	HP:0003477	Peripheral axonal neuropathy
51062	ATL1	HP:0002141	Gait imbalance
51062	ATL1	HP:0003487	Babinski sign
51062	ATL1	HP:0003409	Distal sensory impairment of all modalities
51062	ATL1	HP:0002166	Impaired vibration sensation in the lower limbs
51062	ATL1	HP:0010550	Paraplegia
51062	ATL1	HP:0003401	Paresthesia
51062	ATL1	HP:0002270	Abnormality of the autonomic nervous system
51062	ATL1	HP:0003587	Insidious onset
51062	ATL1	HP:0008404	Nail dystrophy
51062	ATL1	HP:0007021	Pain insensitivity
51062	ATL1	HP:0007002	Motor axonal neuropathy
51062	ATL1	HP:0007078	Decreased amplitude of sensory action potentials
51062	ATL1	HP:0001058	Poor wound healing
51062	ATL1	HP:0002395	Lower limb hyperreflexia
51062	ATL1	HP:0003693	Distal amyotrophy
51062	ATL1	HP:0002359	Frequent falls
51062	ATL1	HP:0001026	Penetrating foot ulcers
51062	ATL1	HP:0003676	Progressive
51062	ATL1	HP:0002314	Degeneration of the lateral corticospinal tracts
51062	ATL1	HP:0010834	Trophic changes related to pain
51062	ATL1	HP:0010829	Impaired temperature sensation
51062	ATL1	HP:0009830	Peripheral neuropathy
51062	ATL1	HP:0200042	Skin ulcer
51062	ATL1	HP:0009763	Limb pain
51062	ATL1	HP:0003621	Juvenile onset
51062	ATL1	HP:0006895	Lower limb hypertonia
51062	ATL1	HP:0009053	Distal lower limb muscle weakness
51062	ATL1	HP:0009027	Foot dorsiflexor weakness
51062	ATL1	HP:0006937	Impaired distal tactile sensation
51062	ATL1	HP:0012735	Cough
51062	ATL1	HP:0011462	Young adult onset
51062	ATL1	HP:0011448	Ankle clonus
51062	ATL1	HP:0100287	EMG: slow motor conduction
51062	ATL1	HP:0000962	Hyperkeratosis
51062	ATL1	HP:0002821	Neuropathic arthropathy
51062	ATL1	HP:0002839	Urinary bladder sphincter dysfunction
51062	ATL1	HP:0030051	Tip-toe gait
51062	ATL1	HP:0001510	Growth delay
51062	ATL1	HP:0002936	Distal sensory impairment
51062	ATL1	HP:0000365	Hearing impairment
51062	ATL1	HP:0001761	Pes cavus
51067	YARS2	HP:0003737	Mitochondrial myopathy
51067	YARS2	HP:0003700	Generalized amyotrophy
51067	YARS2	HP:0001270	Motor delay
51067	YARS2	HP:0001254	Lethargy
51067	YARS2	HP:0001252	Hypotonia
51067	YARS2	HP:0001249	Intellectual disability
51067	YARS2	HP:0001324	Muscle weakness
51067	YARS2	HP:0000007	Autosomal recessive inheritance
51067	YARS2	HP:0002650	Scoliosis
51067	YARS2	HP:0002747	Respiratory insufficiency due to muscle weakness
51067	YARS2	HP:0002015	Dysphagia
51067	YARS2	HP:0002098	Respiratory distress
51067	YARS2	HP:0002151	Increased serum lactate
51067	YARS2	HP:0003457	EMG abnormality
51067	YARS2	HP:0011924	Decreased activity of mitochondrial complex III
51067	YARS2	HP:0011923	Decreased activity of mitochondrial complex I
51067	YARS2	HP:0003593	Infantile onset
51067	YARS2	HP:0002240	Hepatomegaly
51067	YARS2	HP:0003546	Exercise intolerance
51067	YARS2	HP:0009743	Distichiasis
51067	YARS2	HP:0008347	Decreased activity of mitochondrial complex IV
51067	YARS2	HP:0003688	Cytochrome C oxidase-negative muscle fibers
51067	YARS2	HP:0003676	Progressive
51067	YARS2	HP:0000639	Nystagmus
51067	YARS2	HP:0001924	Sideroblastic anemia
51067	YARS2	HP:0001939	Abnormality of metabolism/homeostasis
51067	YARS2	HP:0001903	Anemia
51067	YARS2	HP:0009055	Generalized limb muscle atrophy
51067	YARS2	HP:0003198	Myopathy
51067	YARS2	HP:0003196	Short nose
51067	YARS2	HP:0003128	Lactic acidosis
51067	YARS2	HP:0000823	Delayed puberty
51067	YARS2	HP:0003200	Ragged-red muscle fibers
51067	YARS2	HP:0000980	Pallor
51067	YARS2	HP:0002808	Kyphosis
51067	YARS2	HP:0000252	Microcephaly
51067	YARS2	HP:0000218	High palate
51067	YARS2	HP:0001508	Failure to thrive
51067	YARS2	HP:0001510	Growth delay
51067	YARS2	HP:0002910	Elevated hepatic transaminase
51067	YARS2	HP:0000343	Long philtrum
51067	YARS2	HP:0000347	Micrognathia
51067	YARS2	HP:0001639	Hypertrophic cardiomyopathy
51067	YARS2	HP:0000486	Strabismus
51067	YARS2	HP:0000508	Ptosis
51067	YARS2	HP:0000501	Glaucoma
51075	TMX2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
51075	TMX2	HP:0010864	Intellectual disability, severe
51075	TMX2	HP:0001276	Hypertonia
51075	TMX2	HP:0001272	Cerebellar atrophy
51075	TMX2	HP:0001250	Seizure
51075	TMX2	HP:0001263	Global developmental delay
51075	TMX2	HP:0002510	Spastic tetraplegia
51075	TMX2	HP:0001347	Hyperreflexia
51075	TMX2	HP:0001339	Lissencephaly
51075	TMX2	HP:0000007	Autosomal recessive inheritance
51075	TMX2	HP:0001302	Pachygyria
51075	TMX2	HP:0002079	Hypoplasia of the corpus callosum
51075	TMX2	HP:0002059	Cerebral atrophy
51075	TMX2	HP:0002119	Ventriculomegaly
51075	TMX2	HP:0002126	Polymicrogyria
51075	TMX2	HP:0003593	Infantile onset
51075	TMX2	HP:0002365	Hypoplasia of the brainstem
51075	TMX2	HP:0000252	Microcephaly
51075	TMX2	HP:0012430	Cerebral white matter hypoplasia
51079	NDUFA13	HP:0002490	Increased CSF lactate
51079	NDUFA13	HP:0002465	Poor speech
51079	NDUFA13	HP:0001138	Optic neuropathy
51079	NDUFA13	HP:0007256	Abnormal pyramidal sign
51079	NDUFA13	HP:0010864	Intellectual disability, severe
51079	NDUFA13	HP:0002421	Poor head control
51079	NDUFA13	HP:0002415	Leukodystrophy
51079	NDUFA13	HP:0001272	Cerebellar atrophy
51079	NDUFA13	HP:0001250	Seizure
51079	NDUFA13	HP:0001252	Hypotonia
51079	NDUFA13	HP:0001266	Choreoathetosis
51079	NDUFA13	HP:0001260	Dysarthria
51079	NDUFA13	HP:0001263	Global developmental delay
51079	NDUFA13	HP:0001257	Spasticity
51079	NDUFA13	HP:0001347	Hyperreflexia
51079	NDUFA13	HP:0001332	Dystonia
51079	NDUFA13	HP:0000007	Autosomal recessive inheritance
51079	NDUFA13	HP:0008972	Decreased activity of mitochondrial respiratory chain
51079	NDUFA13	HP:0008936	Axial hypotonia
51079	NDUFA13	HP:0002020	Gastroesophageal reflux
51079	NDUFA13	HP:0003348	Hyperalaninemia
51079	NDUFA13	HP:0002061	Lower limb spasticity
51079	NDUFA13	HP:0002078	Truncal ataxia
51079	NDUFA13	HP:0002073	Progressive cerebellar ataxia
51079	NDUFA13	HP:0002151	Increased serum lactate
51079	NDUFA13	HP:0002104	Apnea
51079	NDUFA13	HP:0011923	Decreased activity of mitochondrial complex I
51079	NDUFA13	HP:0002197	Generalized-onset seizure
51079	NDUFA13	HP:0003593	Infantile onset
51079	NDUFA13	HP:0007020	Progressive spastic paraplegia
51079	NDUFA13	HP:0003677	Slowly progressive
51079	NDUFA13	HP:0100660	Dyskinesia
51079	NDUFA13	HP:0009830	Peripheral neuropathy
51079	NDUFA13	HP:0002304	Akinesia
51079	NDUFA13	HP:0007183	Focal T2 hyperintense basal ganglia lesion
51079	NDUFA13	HP:0000639	Nystagmus
51079	NDUFA13	HP:0000648	Optic atrophy
51079	NDUFA13	HP:0001941	Acidosis
51079	NDUFA13	HP:0000602	Ophthalmoplegia
51079	NDUFA13	HP:0001903	Anemia
51079	NDUFA13	HP:0100022	Abnormality of movement
51079	NDUFA13	HP:0000712	Emotional lability
51079	NDUFA13	HP:0000998	Hypertrichosis
51079	NDUFA13	HP:0001508	Failure to thrive
51079	NDUFA13	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
51079	NDUFA13	HP:0000365	Hearing impairment
51079	NDUFA13	HP:0001629	Ventricular septal defect
51079	NDUFA13	HP:0001639	Hypertrophic cardiomyopathy
51079	NDUFA13	HP:0000486	Strabismus
51079	NDUFA13	HP:0000514	Slow saccadic eye movements
51079	NDUFA13	HP:0000508	Ptosis
51079	NDUFA13	HP:0000580	Pigmentary retinopathy
51079	NDUFA13	HP:0000543	Optic disc pallor
51081	MRPS7	HP:0001397	Hepatic steatosis
51081	MRPS7	HP:0001399	Hepatic failure
51081	MRPS7	HP:0000007	Autosomal recessive inheritance
51081	MRPS7	HP:0002013	Vomiting
51081	MRPS7	HP:0002151	Increased serum lactate
51081	MRPS7	HP:0008207	Primary adrenal insufficiency
51081	MRPS7	HP:0003593	Infantile onset
51081	MRPS7	HP:0002240	Hepatomegaly
51081	MRPS7	HP:0008527	Congenital sensorineural hearing impairment
51081	MRPS7	HP:0001943	Hypoglycemia
51081	MRPS7	HP:0001945	Fever
51081	MRPS7	HP:0011463	Childhood onset
51081	MRPS7	HP:0003128	Lactic acidosis
51081	MRPS7	HP:0003138	Increased blood urea nitrogen
51081	MRPS7	HP:0000815	Hypergonadotropic hypogonadism
51081	MRPS7	HP:0003259	Elevated circulating creatinine concentration
51081	MRPS7	HP:0001508	Failure to thrive
51081	MRPS7	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
51081	MRPS7	HP:0001876	Pancytopenia
51082	POLR1D	HP:0009892	Anotia
51082	POLR1D	HP:0008551	Microtia
51082	POLR1D	HP:0001270	Motor delay
51082	POLR1D	HP:0001263	Global developmental delay
51082	POLR1D	HP:0002575	Tracheoesophageal fistula
51082	POLR1D	HP:0008736	Hypoplasia of penis
51082	POLR1D	HP:0000046	Small scrotum
51082	POLR1D	HP:0000028	Cryptorchidism
51082	POLR1D	HP:0000007	Autosomal recessive inheritance
51082	POLR1D	HP:0000006	Autosomal dominant inheritance
51082	POLR1D	HP:0002652	Skeletal dysplasia
51082	POLR1D	HP:0000164	Abnormality of the dentition
51082	POLR1D	HP:0000160	Narrow mouth
51082	POLR1D	HP:0000162	Glossoptosis
51082	POLR1D	HP:0000175	Cleft palate
51082	POLR1D	HP:0000143	Rectovaginal fistula
51082	POLR1D	HP:0000154	Wide mouth
51082	POLR1D	HP:0005990	Thyroid hypoplasia
51082	POLR1D	HP:0002007	Frontal bossing
51082	POLR1D	HP:0002006	Facial cleft
51082	POLR1D	HP:0011800	Midface retrusion
51082	POLR1D	HP:0002084	Encephalocele
51082	POLR1D	HP:0002093	Respiratory insufficiency
51082	POLR1D	HP:0003577	Congenital onset
51082	POLR1D	HP:0010669	Hypoplasia of the zygomatic bone
51082	POLR1D	HP:0002381	Aphasia
51082	POLR1D	HP:0010807	Open bite
51082	POLR1D	HP:0009804	Tooth agenesis
51082	POLR1D	HP:0009795	Branchial fistula
51082	POLR1D	HP:0000643	Blepharospasm
51082	POLR1D	HP:0000612	Iris coloboma
51082	POLR1D	HP:0000625	Eyelid coloboma
51082	POLR1D	HP:0011386	Narrow internal auditory canal
51082	POLR1D	HP:0000682	Abnormal dental enamel morphology
51082	POLR1D	HP:0000652	Lower eyelid coloboma
51082	POLR1D	HP:0001999	Abnormal facial shape
51082	POLR1D	HP:0030680	Abnormality of cardiovascular system morphology
51082	POLR1D	HP:0004348	Abnormality of bone mineral density
51082	POLR1D	HP:0000750	Delayed speech and language development
51082	POLR1D	HP:0000778	Hypoplasia of the thymus
51082	POLR1D	HP:0005701	Multiple enchondromatosis
51082	POLR1D	HP:0000925	Abnormality of the vertebral column
51082	POLR1D	HP:0004467	Preauricular pit
51082	POLR1D	HP:0000834	Abnormality of the adrenal glands
51082	POLR1D	HP:0000278	Retrognathia
51082	POLR1D	HP:0000294	Low anterior hairline
51082	POLR1D	HP:0001595	Abnormal hair morphology
51082	POLR1D	HP:0000272	Malar flattening
51082	POLR1D	HP:0000248	Brachycephaly
51082	POLR1D	HP:0000218	High palate
51082	POLR1D	HP:0000204	Cleft upper lip
51082	POLR1D	HP:0001508	Failure to thrive
51082	POLR1D	HP:0000384	Preauricular skin tag
51082	POLR1D	HP:0006482	Abnormality of dental morphology
51082	POLR1D	HP:0000370	Abnormality of the middle ear
51082	POLR1D	HP:0000347	Micrognathia
51082	POLR1D	HP:0000316	Hypertelorism
51082	POLR1D	HP:0001643	Patent ductus arteriosus
51082	POLR1D	HP:0000327	Hypoplasia of the maxilla
51082	POLR1D	HP:0000308	Microretrognathia
51082	POLR1D	HP:0000405	Conductive hearing impairment
51082	POLR1D	HP:0000486	Strabismus
51082	POLR1D	HP:0000494	Downslanted palpebral fissures
51082	POLR1D	HP:0000453	Choanal atresia
51082	POLR1D	HP:0000452	Choanal stenosis
51082	POLR1D	HP:0000431	Wide nasal bridge
51082	POLR1D	HP:0005473	Fusion of middle ear ossicles
51082	POLR1D	HP:0000518	Cataract
51082	POLR1D	HP:0000505	Visual impairment
51082	POLR1D	HP:0000561	Absent eyelashes
51082	POLR1D	HP:0011219	Short face
51082	POLR1D	HP:0000568	Microphthalmia
51083	GAL	HP:0007334	Bilateral tonic-clonic seizure with focal onset
51083	GAL	HP:0012005	Deja vu aura
51083	GAL	HP:0000006	Autosomal dominant inheritance
51083	GAL	HP:0002384	Focal impaired awareness seizure
51083	GAL	HP:0003621	Juvenile onset
51083	GAL	HP:0032705	Focal aware cognitive seizure with forced thinking
51083	GAL	HP:0032864	Focal aware sensory seizure with auditory features
51083	GAL	HP:0032785	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
51085	MLXIPL	HP:0001181	Adducted thumb
51085	MLXIPL	HP:0001136	Retinal arteriolar tortuosity
51085	MLXIPL	HP:0010880	Increased nuchal translucency
51085	MLXIPL	HP:0001297	Stroke
51085	MLXIPL	HP:0001290	Generalized hypotonia
51085	MLXIPL	HP:0100817	Renovascular hypertension
51085	MLXIPL	HP:0001288	Gait disturbance
51085	MLXIPL	HP:0001252	Hypotonia
51085	MLXIPL	HP:0001251	Ataxia
51085	MLXIPL	HP:0001249	Intellectual disability
51085	MLXIPL	HP:0001260	Dysarthria
51085	MLXIPL	HP:0001257	Spasticity
51085	MLXIPL	HP:0001231	Abnormal fingernail morphology
51085	MLXIPL	HP:0002575	Tracheoesophageal fistula
51085	MLXIPL	HP:0008770	Obsessive-compulsive trait
51085	MLXIPL	HP:0008736	Hypoplasia of penis
51085	MLXIPL	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
51085	MLXIPL	HP:0008661	Urethral stenosis
51085	MLXIPL	HP:0000089	Renal hypoplasia
51085	MLXIPL	HP:0000083	Renal insufficiency
51085	MLXIPL	HP:0000093	Proteinuria
51085	MLXIPL	HP:0000076	Vesicoureteral reflux
51085	MLXIPL	HP:0000075	Renal duplication
51085	MLXIPL	HP:0000044	Hypogonadotropic hypogonadism
51085	MLXIPL	HP:0001371	Flexion contracture
51085	MLXIPL	HP:0000054	Micropenis
51085	MLXIPL	HP:0001388	Joint laxity
51085	MLXIPL	HP:0001387	Joint stiffness
51085	MLXIPL	HP:0000023	Inguinal hernia
51085	MLXIPL	HP:0000015	Bladder diverticulum
51085	MLXIPL	HP:0000014	Abnormality of the bladder
51085	MLXIPL	HP:0001347	Hyperreflexia
51085	MLXIPL	HP:0001361	Nystagmus-induced head nodding
51085	MLXIPL	HP:0000025	Functional abnormality of male internal genitalia
51085	MLXIPL	HP:0000028	Cryptorchidism
51085	MLXIPL	HP:0008872	Feeding difficulties in infancy
51085	MLXIPL	HP:0007495	Prematurely aged appearance
51085	MLXIPL	HP:0007477	Abnormal dermatoglyphics
51085	MLXIPL	HP:0000010	Recurrent urinary tract infections
51085	MLXIPL	HP:0001337	Tremor
51085	MLXIPL	HP:0000006	Autosomal dominant inheritance
51085	MLXIPL	HP:0001310	Dysmetria
51085	MLXIPL	HP:0002637	Cerebral ischemia
51085	MLXIPL	HP:0002650	Scoliosis
51085	MLXIPL	HP:0001321	Cerebellar hypoplasia
51085	MLXIPL	HP:0002644	Abnormal pelvic girdle bone morphology
51085	MLXIPL	HP:0002623	Overriding aorta
51085	MLXIPL	HP:0002608	Celiac disease
51085	MLXIPL	HP:0000179	Thick lower lip vermilion
51085	MLXIPL	HP:0000194	Open mouth
51085	MLXIPL	HP:0000158	Macroglossia
51085	MLXIPL	HP:0000154	Wide mouth
51085	MLXIPL	HP:0000147	Polycystic ovaries
51085	MLXIPL	HP:0000121	Nephrocalcinosis
51085	MLXIPL	HP:0000125	Pelvic kidney
51085	MLXIPL	HP:0001409	Portal hypertension
51085	MLXIPL	HP:0002751	Kyphoscoliosis
51085	MLXIPL	HP:0002750	Delayed skeletal maturation
51085	MLXIPL	HP:0002024	Malabsorption
51085	MLXIPL	HP:0002020	Gastroesophageal reflux
51085	MLXIPL	HP:0002019	Constipation
51085	MLXIPL	HP:0002017	Nausea and vomiting
51085	MLXIPL	HP:0002035	Rectal prolapse
51085	MLXIPL	HP:0002027	Abdominal pain
51085	MLXIPL	HP:0003312	Abnormal form of the vertebral bodies
51085	MLXIPL	HP:0003307	Hyperlordosis
51085	MLXIPL	HP:0005978	Type II diabetes mellitus
51085	MLXIPL	HP:0011800	Midface retrusion
51085	MLXIPL	HP:0100539	Periorbital edema
51085	MLXIPL	HP:0100545	Arterial stenosis
51085	MLXIPL	HP:0002071	Abnormality of extrapyramidal motor function
51085	MLXIPL	HP:0002141	Gait imbalance
51085	MLXIPL	HP:0002150	Hypercalciuria
51085	MLXIPL	HP:0002120	Cerebral cortical atrophy
51085	MLXIPL	HP:0004764	Myxomatous mitral valve degeneration
51085	MLXIPL	HP:0003422	Vertebral segmentation defect
51085	MLXIPL	HP:0002183	Phonophobia
51085	MLXIPL	HP:0002167	Abnormality of speech or vocalization
51085	MLXIPL	HP:0010526	Dysgraphia
51085	MLXIPL	HP:0002253	Colonic diverticula
51085	MLXIPL	HP:0002216	Premature graying of hair
51085	MLXIPL	HP:0002205	Recurrent respiratory infections
51085	MLXIPL	HP:0009748	Large earlobe
51085	MLXIPL	HP:0100785	Insomnia
51085	MLXIPL	HP:0010662	Abnormality of the diencephalon
51085	MLXIPL	HP:0010669	Hypoplasia of the zygomatic bone
51085	MLXIPL	HP:0007018	Attention deficit hyperactivity disorder
51085	MLXIPL	HP:0007099	Chiari type I malformation
51085	MLXIPL	HP:0001052	Nevus flammeus
51085	MLXIPL	HP:0002360	Sleep disturbance
51085	MLXIPL	HP:0002376	Developmental regression
51085	MLXIPL	HP:0002370	Poor coordination
51085	MLXIPL	HP:0200021	Down-sloping shoulders
51085	MLXIPL	HP:0100659	Abnormal cerebral vascular morphology
51085	MLXIPL	HP:0010807	Open bite
51085	MLXIPL	HP:0100613	Death in early adulthood
51085	MLXIPL	HP:0001081	Cholelithiasis
51085	MLXIPL	HP:0008499	High hypermetropia
51085	MLXIPL	HP:0010794	Impaired visuospatial constructive cognition
51085	MLXIPL	HP:0010780	Hyperacusis
51085	MLXIPL	HP:0010747	Medial flaring of the eyebrow
51085	MLXIPL	HP:0002311	Incoordination
51085	MLXIPL	HP:0002308	Chiari malformation
51085	MLXIPL	HP:0004969	Peripheral pulmonary artery stenosis
51085	MLXIPL	HP:0004209	Clinodactyly of the 5th finger
51085	MLXIPL	HP:0004295	Abnormal gastric mucosa morphology
51085	MLXIPL	HP:0005562	Multiple renal cysts
51085	MLXIPL	HP:0001969	Abnormal tubulointerstitial morphology
51085	MLXIPL	HP:0000635	Blue irides
51085	MLXIPL	HP:0000632	Lacrimation abnormality
51085	MLXIPL	HP:0000646	Amblyopia
51085	MLXIPL	HP:0000627	Posterior embryotoxon
51085	MLXIPL	HP:0000629	Periorbital fullness
51085	MLXIPL	HP:0001952	Glucose intolerance
51085	MLXIPL	HP:0001920	Renal artery stenosis
51085	MLXIPL	HP:0000601	Hypotelorism
51085	MLXIPL	HP:0000682	Abnormal dental enamel morphology
51085	MLXIPL	HP:0000691	Microdontia
51085	MLXIPL	HP:0000689	Dental malocclusion
51085	MLXIPL	HP:0000670	Carious teeth
51085	MLXIPL	HP:0012639	Abnormal nervous system morphology
51085	MLXIPL	HP:0000668	Hypodontia
51085	MLXIPL	HP:0004322	Short stature
51085	MLXIPL	HP:0004306	Abnormal endocardium morphology
51085	MLXIPL	HP:0004305	Involuntary movements
51085	MLXIPL	HP:0003072	Hypercalcemia
51085	MLXIPL	HP:0000805	Enuresis
51085	MLXIPL	HP:0004381	Supravalvular aortic stenosis
51085	MLXIPL	HP:0004398	Peptic ulcer
51085	MLXIPL	HP:0005692	Joint hyperflexibility
51085	MLXIPL	HP:0003028	Abnormality of the ankle
51085	MLXIPL	HP:0100025	Overfriendliness
51085	MLXIPL	HP:0000767	Pectus excavatum
51085	MLXIPL	HP:0000739	Anxiety
51085	MLXIPL	HP:0000736	Short attention span
51085	MLXIPL	HP:0000716	Depression
51085	MLXIPL	HP:0000717	Autism
51085	MLXIPL	HP:0000722	Compulsive behaviors
51085	MLXIPL	HP:0100000	Early onset of sexual maturation
51085	MLXIPL	HP:0000787	Nephrolithiasis
51085	MLXIPL	HP:0003119	Abnormal circulating lipid concentration
51085	MLXIPL	HP:0004428	Elfin facies
51085	MLXIPL	HP:0003198	Myopathy
51085	MLXIPL	HP:0003196	Short nose
51085	MLXIPL	HP:0000819	Diabetes mellitus
51085	MLXIPL	HP:0000826	Precocious puberty
51085	MLXIPL	HP:0000822	Hypertension
51085	MLXIPL	HP:0000821	Hypothyroidism
51085	MLXIPL	HP:0003236	Elevated circulating creatine kinase concentration
51085	MLXIPL	HP:0003298	Spina bifida occulta
51085	MLXIPL	HP:0000977	Soft skin
51085	MLXIPL	HP:0000973	Cutis laxa
51085	MLXIPL	HP:0000960	Sacral dimple
51085	MLXIPL	HP:0000939	Osteoporosis
51085	MLXIPL	HP:0000938	Osteopenia
51085	MLXIPL	HP:0100240	Synostosis of joints
51085	MLXIPL	HP:0008053	Aplasia/Hypoplasia of the iris
51085	MLXIPL	HP:0007720	Flat cornea
51085	MLXIPL	HP:0000286	Epicanthus
51085	MLXIPL	HP:0000280	Coarse facial features
51085	MLXIPL	HP:0000293	Full cheeks
51085	MLXIPL	HP:0000275	Narrow face
51085	MLXIPL	HP:0000272	Malar flattening
51085	MLXIPL	HP:0005145	Coronary artery stenosis
51085	MLXIPL	HP:0005113	Aortic arch aneurysm
51085	MLXIPL	HP:0002829	Arthralgia
51085	MLXIPL	HP:0002808	Kyphosis
51085	MLXIPL	HP:0000252	Microcephaly
51085	MLXIPL	HP:0001582	Redundant skin
51085	MLXIPL	HP:0012210	Abnormal renal morphology
51085	MLXIPL	HP:0000212	Gingival overgrowth
51085	MLXIPL	HP:0000232	Everted lower lip vermilion
51085	MLXIPL	HP:0001531	Failure to thrive in infancy
51085	MLXIPL	HP:0002857	Genu valgum
51085	MLXIPL	HP:0001537	Umbilical hernia
51085	MLXIPL	HP:0001511	Intrauterine growth retardation
51085	MLXIPL	HP:0001513	Obesity
51085	MLXIPL	HP:0000389	Chronic otitis media
51085	MLXIPL	HP:0001609	Hoarse voice
51085	MLXIPL	HP:0001608	Abnormality of the voice
51085	MLXIPL	HP:0001605	Vocal cord paralysis
51085	MLXIPL	HP:0001618	Dysphonia
51085	MLXIPL	HP:0006482	Abnormality of dental morphology
51085	MLXIPL	HP:0001699	Sudden death
51085	MLXIPL	HP:0000368	Low-set, posteriorly rotated ears
51085	MLXIPL	HP:0000341	Narrow forehead
51085	MLXIPL	HP:0001671	Abnormal cardiac septum morphology
51085	MLXIPL	HP:0000343	Long philtrum
51085	MLXIPL	HP:0011001	Increased bone mineral density
51085	MLXIPL	HP:0000337	Broad forehead
51085	MLXIPL	HP:0002999	Patellar dislocation
51085	MLXIPL	HP:0000348	High forehead
51085	MLXIPL	HP:0000347	Micrognathia
51085	MLXIPL	HP:0001647	Bicuspid aortic valve
51085	MLXIPL	HP:0001643	Patent ductus arteriosus
51085	MLXIPL	HP:0001642	Pulmonic stenosis
51085	MLXIPL	HP:0001645	Sudden cardiac death
51085	MLXIPL	HP:0002974	Radioulnar synostosis
51085	MLXIPL	HP:0001658	Myocardial infarction
51085	MLXIPL	HP:0001653	Mitral regurgitation
51085	MLXIPL	HP:0001629	Ventricular septal defect
51085	MLXIPL	HP:0001626	Abnormality of the cardiovascular system
51085	MLXIPL	HP:0001640	Cardiomegaly
51085	MLXIPL	HP:0001639	Hypertrophic cardiomyopathy
51085	MLXIPL	HP:0001636	Tetralogy of Fallot
51085	MLXIPL	HP:0001635	Congestive heart failure
51085	MLXIPL	HP:0000307	Pointed chin
51085	MLXIPL	HP:0001631	Atrial septal defect
51085	MLXIPL	HP:0001634	Mitral valve prolapse
51085	MLXIPL	HP:0007957	Corneal opacity
51085	MLXIPL	HP:0005344	Abnormal carotid artery morphology
51085	MLXIPL	HP:0000407	Sensorineural hearing impairment
51085	MLXIPL	HP:0000403	Recurrent otitis media
51085	MLXIPL	HP:0000400	Macrotia
51085	MLXIPL	HP:0005280	Depressed nasal bridge
51085	MLXIPL	HP:0000486	Strabismus
51085	MLXIPL	HP:0000485	Megalocornea
51085	MLXIPL	HP:0001792	Small nail
51085	MLXIPL	HP:0000464	Abnormality of the neck
51085	MLXIPL	HP:0000463	Anteverted nares
51085	MLXIPL	HP:0012450	Chronic constipation
51085	MLXIPL	HP:0000455	Broad nasal tip
51085	MLXIPL	HP:0012433	Abnormal social behavior
51085	MLXIPL	HP:0001763	Pes planus
51085	MLXIPL	HP:0000411	Protruding ear
51085	MLXIPL	HP:0000431	Wide nasal bridge
51085	MLXIPL	HP:0000518	Cataract
51085	MLXIPL	HP:0001822	Hallux valgus
51085	MLXIPL	HP:0000505	Visual impairment
51085	MLXIPL	HP:0000501	Glaucoma
51085	MLXIPL	HP:0001800	Hypoplastic toenails
51085	MLXIPL	HP:0000581	Blepharophimosis
51085	MLXIPL	HP:0012537	Food intolerance
51085	MLXIPL	HP:0000539	Abnormality of refraction
51085	MLXIPL	HP:0000545	Myopia
51086	TNNI3K	HP:0000006	Autosomal dominant inheritance
51086	TNNI3K	HP:0011711	Left anterior fascicular block
51086	TNNI3K	HP:0011712	Right bundle branch block
51086	TNNI3K	HP:0004763	Paroxysmal supraventricular tachycardia
51086	TNNI3K	HP:0004749	Atrial flutter
51086	TNNI3K	HP:0005110	Atrial fibrillation
51086	TNNI3K	HP:0005184	Prolonged QTc interval
51086	TNNI3K	HP:0001695	Cardiac arrest
51086	TNNI3K	HP:0001692	Atrial arrhythmia
51086	TNNI3K	HP:0001688	Sinus bradycardia
51086	TNNI3K	HP:0001649	Tachycardia
51086	TNNI3K	HP:0001644	Dilated cardiomyopathy
51086	TNNI3K	HP:0001635	Congestive heart failure
51086	TNNI3K	HP:0006682	Premature ventricular contraction
51091	SEPSECS	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
51091	SEPSECS	HP:0001272	Cerebellar atrophy
51091	SEPSECS	HP:0001270	Motor delay
51091	SEPSECS	HP:0001250	Seizure
51091	SEPSECS	HP:0001266	Choreoathetosis
51091	SEPSECS	HP:0001263	Global developmental delay
51091	SEPSECS	HP:0001257	Spasticity
51091	SEPSECS	HP:0002536	Abnormal cortical gyration
51091	SEPSECS	HP:0002518	Abnormal periventricular white matter morphology
51091	SEPSECS	HP:0002510	Spastic tetraplegia
51091	SEPSECS	HP:0031162	Impaired oropharyngeal swallow response
51091	SEPSECS	HP:0000007	Autosomal recessive inheritance
51091	SEPSECS	HP:0001320	Cerebellar vermis hypoplasia
51091	SEPSECS	HP:0001321	Cerebellar hypoplasia
51091	SEPSECS	HP:0007663	Reduced visual acuity
51091	SEPSECS	HP:0007598	Bilateral single transverse palmar creases
51091	SEPSECS	HP:0002719	Recurrent infections
51091	SEPSECS	HP:0002020	Gastroesophageal reflux
51091	SEPSECS	HP:0002033	Poor suck
51091	SEPSECS	HP:0002079	Hypoplasia of the corpus callosum
51091	SEPSECS	HP:0002072	Chorea
51091	SEPSECS	HP:0002059	Cerebral atrophy
51091	SEPSECS	HP:0003487	Babinski sign
51091	SEPSECS	HP:0002123	Generalized myoclonic seizure
51091	SEPSECS	HP:0002119	Ventriculomegaly
51091	SEPSECS	HP:0002104	Apnea
51091	SEPSECS	HP:0002187	Intellectual disability, profound
51091	SEPSECS	HP:0002169	Clonus
51091	SEPSECS	HP:0002268	Paroxysmal dystonia
51091	SEPSECS	HP:0003593	Infantile onset
51091	SEPSECS	HP:0100704	Cerebral visual impairment
51091	SEPSECS	HP:0003558	Viral infection-induced rhabdomyolysis
51091	SEPSECS	HP:0200136	Oral-pharyngeal dysphagia
51091	SEPSECS	HP:0011968	Feeding difficulties
51091	SEPSECS	HP:0002365	Hypoplasia of the brainstem
51091	SEPSECS	HP:0002360	Sleep disturbance
51091	SEPSECS	HP:0002350	Cerebellar cyst
51091	SEPSECS	HP:0200049	Upper limb hypertonia
51091	SEPSECS	HP:0006850	Hypoplasia of the ventral pons
51091	SEPSECS	HP:0006855	Cerebellar vermis atrophy
51091	SEPSECS	HP:0006895	Lower limb hypertonia
51091	SEPSECS	HP:0009062	Infantile axial hypotonia
51091	SEPSECS	HP:0011344	Severe global developmental delay
51091	SEPSECS	HP:0001999	Abnormal facial shape
51091	SEPSECS	HP:0006989	Dysplastic corpus callosum
51091	SEPSECS	HP:0000737	Irritability
51091	SEPSECS	HP:0011471	Gastrostomy tube feeding in infancy
51091	SEPSECS	HP:0012765	Widened cerebellar subarachnoid space
51091	SEPSECS	HP:0003121	Limb joint contracture
51091	SEPSECS	HP:0034353	Appendicular spasticity
51091	SEPSECS	HP:0000253	Progressive microcephaly
51091	SEPSECS	HP:0033980	Paroxysmal tonic upgaze
51091	SEPSECS	HP:0000340	Sloping forehead
51091	SEPSECS	HP:0011171	Simple febrile seizure
51091	SEPSECS	HP:0012469	Infantile spasms
51091	SEPSECS	HP:0012448	Delayed myelination
51095	TRNT1	HP:0001105	Retinal atrophy
51095	TRNT1	HP:0001290	Generalized hypotonia
51095	TRNT1	HP:0001250	Seizure
51095	TRNT1	HP:0001252	Hypotonia
51095	TRNT1	HP:0001251	Ataxia
51095	TRNT1	HP:0001263	Global developmental delay
51095	TRNT1	HP:0010976	B lymphocytopenia
51095	TRNT1	HP:0032323	Periodic fever
51095	TRNT1	HP:0000007	Autosomal recessive inheritance
51095	TRNT1	HP:0001334	Communicating hydrocephalus
51095	TRNT1	HP:0008936	Axial hypotonia
51095	TRNT1	HP:0000121	Nephrocalcinosis
51095	TRNT1	HP:0003355	Aminoaciduria
51095	TRNT1	HP:0040303	Decreased serum iron
51095	TRNT1	HP:0002059	Cerebral atrophy
51095	TRNT1	HP:0002188	Delayed CNS myelination
51095	TRNT1	HP:0002194	Delayed gross motor development
51095	TRNT1	HP:0003593	Infantile onset
51095	TRNT1	HP:0002299	Brittle hair
51095	TRNT1	HP:0004840	Hypochromic microcytic anemia
51095	TRNT1	HP:0025066	Decreased mean corpuscular volume
51095	TRNT1	HP:0003623	Neonatal onset
51095	TRNT1	HP:0030529	Ring scotoma
51095	TRNT1	HP:0001981	Schistocytosis
51095	TRNT1	HP:0001924	Sideroblastic anemia
51095	TRNT1	HP:0001903	Anemia
51095	TRNT1	HP:0000662	Nyctalopia
51095	TRNT1	HP:0004313	Decreased circulating antibody level
51095	TRNT1	HP:0030609	Photoreceptor layer loss on macular OCT
51095	TRNT1	HP:0100014	Epiretinal membrane
51095	TRNT1	HP:0011463	Childhood onset
51095	TRNT1	HP:0004445	Elliptocytosis
51095	TRNT1	HP:0004447	Poikilocytosis
51095	TRNT1	HP:0003128	Lactic acidosis
51095	TRNT1	HP:0000980	Pallor
51095	TRNT1	HP:0007722	Retinal pigment epithelial atrophy
51095	TRNT1	HP:0001510	Growth delay
51095	TRNT1	HP:0001638	Cardiomyopathy
51095	TRNT1	HP:0000407	Sensorineural hearing impairment
51095	TRNT1	HP:0001744	Splenomegaly
51095	TRNT1	HP:0011273	Anisocytosis
51095	TRNT1	HP:0000510	Rod-cone dystrophy
51095	TRNT1	HP:0001882	Leukopenia
51095	TRNT1	HP:0000543	Optic disc pallor
51095	TRNT1	HP:0001873	Thrombocytopenia
51095	TRNT1	HP:0000545	Myopia
51098	IFT52	HP:0001156	Brachydactyly
51098	IFT52	HP:0009882	Short distal phalanx of finger
51098	IFT52	HP:0001270	Motor delay
51098	IFT52	HP:0001231	Abnormal fingernail morphology
51098	IFT52	HP:0006101	Finger syndactyly
51098	IFT52	HP:0001363	Craniosynostosis
51098	IFT52	HP:0000007	Autosomal recessive inheritance
51098	IFT52	HP:0008905	Rhizomelia
51098	IFT52	HP:0000164	Abnormality of the dentition
51098	IFT52	HP:0002007	Frontal bossing
51098	IFT52	HP:0011800	Midface retrusion
51098	IFT52	HP:0002098	Respiratory distress
51098	IFT52	HP:0002079	Hypoplasia of the corpus callosum
51098	IFT52	HP:0003577	Congenital onset
51098	IFT52	HP:0032078	Angel-shaped phalanx
51098	IFT52	HP:0008388	Abnormal toenail morphology
51098	IFT52	HP:0009826	Limb undergrowth
51098	IFT52	HP:0009803	Short phalanx of finger
51098	IFT52	HP:0008499	High hypermetropia
51098	IFT52	HP:0010743	Short metatarsal
51098	IFT52	HP:0004209	Clinodactyly of the 5th finger
51098	IFT52	HP:0000639	Nystagmus
51098	IFT52	HP:0000601	Hypotelorism
51098	IFT52	HP:0010049	Short metacarpal
51098	IFT52	HP:0000682	Abnormal dental enamel morphology
51098	IFT52	HP:0000679	Taurodontia
51098	IFT52	HP:0000691	Microdontia
51098	IFT52	HP:0000687	Widely spaced teeth
51098	IFT52	HP:0000670	Carious teeth
51098	IFT52	HP:0000668	Hypodontia
51098	IFT52	HP:0004322	Short stature
51098	IFT52	HP:0005692	Joint hyperflexibility
51098	IFT52	HP:0000767	Pectus excavatum
51098	IFT52	HP:0000774	Narrow chest
51098	IFT52	HP:0003180	Flat acetabular roof
51098	IFT52	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
51098	IFT52	HP:0100259	Postaxial polydactyly
51098	IFT52	HP:0010306	Short thorax
51098	IFT52	HP:0000939	Osteoporosis
51098	IFT52	HP:0000944	Abnormal metaphysis morphology
51098	IFT52	HP:0000940	Abnormal diaphysis morphology
51098	IFT52	HP:0008070	Sparse hair
51098	IFT52	HP:0000286	Epicanthus
51098	IFT52	HP:0000293	Full cheeks
51098	IFT52	HP:0000268	Dolichocephaly
51098	IFT52	HP:0000269	Prominent occiput
51098	IFT52	HP:0000232	Everted lower lip vermilion
51098	IFT52	HP:0001538	Protuberant abdomen
51098	IFT52	HP:0007814	Retinal pigment epithelial mottling
51098	IFT52	HP:0000369	Low-set ears
51098	IFT52	HP:0000348	High forehead
51098	IFT52	HP:0005280	Depressed nasal bridge
51098	IFT52	HP:0012471	Thick vermilion border
51098	IFT52	HP:0000463	Anteverted nares
51098	IFT52	HP:0000431	Wide nasal bridge
51098	IFT52	HP:0001852	Sandal gap
51098	IFT52	HP:0000506	Telecanthus
51098	IFT52	HP:0000540	Hypermetropia
51098	IFT52	HP:0000545	Myopia
51099	ABHD5	HP:0008551	Microtia
51099	ABHD5	HP:0001284	Areflexia
51099	ABHD5	HP:0001251	Ataxia
51099	ABHD5	HP:0001249	Intellectual disability
51099	ABHD5	HP:0001263	Global developmental delay
51099	ABHD5	HP:0001397	Hepatic steatosis
51099	ABHD5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
51099	ABHD5	HP:0001324	Muscle weakness
51099	ABHD5	HP:0000007	Autosomal recessive inheritance
51099	ABHD5	HP:0001413	Micronodular cirrhosis
51099	ABHD5	HP:0002155	Hypertriglyceridemia
51099	ABHD5	HP:0003458	EMG: myopathic abnormalities
51099	ABHD5	HP:0002240	Hepatomegaly
51099	ABHD5	HP:0003547	Shoulder girdle muscle weakness
51099	ABHD5	HP:0007009	Central nervous system degeneration
51099	ABHD5	HP:0002355	Difficulty walking
51099	ABHD5	HP:0009073	Progressive proximal muscle weakness
51099	ABHD5	HP:0000639	Nystagmus
51099	ABHD5	HP:0001946	Ketosis
51099	ABHD5	HP:0001911	Abnormal granulocyte morphology
51099	ABHD5	HP:0000656	Ectropion
51099	ABHD5	HP:0004322	Short stature
51099	ABHD5	HP:0003198	Myopathy
51099	ABHD5	HP:0040081	Abnormal circulating creatine kinase concentration
51099	ABHD5	HP:0001596	Alopecia
51099	ABHD5	HP:0012240	Increased intramyocellular lipid droplets
51099	ABHD5	HP:0000232	Everted lower lip vermilion
51099	ABHD5	HP:0001513	Obesity
51099	ABHD5	HP:0000385	Small earlobe
51099	ABHD5	HP:0002910	Elevated hepatic transaminase
51099	ABHD5	HP:0002922	Increased CSF protein concentration
51099	ABHD5	HP:0001638	Cardiomyopathy
51099	ABHD5	HP:0000407	Sensorineural hearing impairment
51099	ABHD5	HP:0000486	Strabismus
51099	ABHD5	HP:0012472	Eclabion
51099	ABHD5	HP:0000523	Subcapsular cataract
51099	ABHD5	HP:0000508	Ptosis
51099	ABHD5	HP:0001871	Abnormality of blood and blood-forming tissues
51102	MECR	HP:0002451	Limb dystonia
51102	MECR	HP:0001272	Cerebellar atrophy
51102	MECR	HP:0001270	Motor delay
51102	MECR	HP:0001288	Gait disturbance
51102	MECR	HP:0001252	Hypotonia
51102	MECR	HP:0001251	Ataxia
51102	MECR	HP:0001260	Dysarthria
51102	MECR	HP:0001257	Spasticity
51102	MECR	HP:0002530	Axial dystonia
51102	MECR	HP:0002505	Loss of ambulation
51102	MECR	HP:0001347	Hyperreflexia
51102	MECR	HP:0025312	Esophoria
51102	MECR	HP:0001332	Dystonia
51102	MECR	HP:0001324	Muscle weakness
51102	MECR	HP:0000007	Autosomal recessive inheritance
51102	MECR	HP:0001336	Myoclonus
51102	MECR	HP:0012179	Craniofacial dystonia
51102	MECR	HP:0007663	Reduced visual acuity
51102	MECR	HP:0031206	Striatal T2 hyperintensity
51102	MECR	HP:0002015	Dysphagia
51102	MECR	HP:0002063	Rigidity
51102	MECR	HP:0002072	Chorea
51102	MECR	HP:0002059	Cerebral atrophy
51102	MECR	HP:0003487	Babinski sign
51102	MECR	HP:0011923	Decreased activity of mitochondrial complex I
51102	MECR	HP:0002194	Delayed gross motor development
51102	MECR	HP:0032005	Hemidystonia
51102	MECR	HP:0008347	Decreased activity of mitochondrial complex IV
51102	MECR	HP:0011968	Feeding difficulties
51102	MECR	HP:0008314	Decreased activity of mitochondrial complex II
51102	MECR	HP:0003676	Progressive
51102	MECR	HP:0002315	Headache
51102	MECR	HP:0100660	Dyskinesia
51102	MECR	HP:0007166	Paroxysmal dyskinesia
51102	MECR	HP:0002312	Clumsiness
51102	MECR	HP:0002305	Athetosis
51102	MECR	HP:0003621	Juvenile onset
51102	MECR	HP:0000639	Nystagmus
51102	MECR	HP:0000649	Abnormality of visual evoked potentials
51102	MECR	HP:0000648	Optic atrophy
51102	MECR	HP:0000643	Blepharospasm
51102	MECR	HP:0004305	Involuntary movements
51102	MECR	HP:0012707	Elevated brain lactate level by MRS
51102	MECR	HP:0011463	Childhood onset
51102	MECR	HP:0003121	Limb joint contracture
51102	MECR	HP:0001508	Failure to thrive
51102	MECR	HP:0000514	Slow saccadic eye movements
51102	MECR	HP:0000505	Visual impairment
51102	MECR	HP:0000580	Pigmentary retinopathy
51102	MECR	HP:0000543	Optic disc pallor
51103	NDUFAF1	HP:0025116	Fetal distress
51103	NDUFAF1	HP:0002490	Increased CSF lactate
51103	NDUFAF1	HP:0001138	Optic neuropathy
51103	NDUFAF1	HP:0002421	Poor head control
51103	NDUFAF1	HP:0002415	Leukodystrophy
51103	NDUFAF1	HP:0003737	Mitochondrial myopathy
51103	NDUFAF1	HP:0001298	Encephalopathy
51103	NDUFAF1	HP:0001254	Lethargy
51103	NDUFAF1	HP:0001252	Hypotonia
51103	NDUFAF1	HP:0001251	Ataxia
51103	NDUFAF1	HP:0001263	Global developmental delay
51103	NDUFAF1	HP:0001324	Muscle weakness
51103	NDUFAF1	HP:0000007	Autosomal recessive inheritance
51103	NDUFAF1	HP:0002650	Scoliosis
51103	NDUFAF1	HP:0000114	Proximal tubulopathy
51103	NDUFAF1	HP:0001403	Macrovesicular hepatic steatosis
51103	NDUFAF1	HP:0002013	Vomiting
51103	NDUFAF1	HP:0002093	Respiratory insufficiency
51103	NDUFAF1	HP:0002151	Increased serum lactate
51103	NDUFAF1	HP:0011923	Decreased activity of mitochondrial complex I
51103	NDUFAF1	HP:0003593	Infantile onset
51103	NDUFAF1	HP:0002240	Hepatomegaly
51103	NDUFAF1	HP:0100704	Cerebral visual impairment
51103	NDUFAF1	HP:0003542	Increased serum pyruvate
51103	NDUFAF1	HP:0011968	Feeding difficulties
51103	NDUFAF1	HP:0008316	Abnormal mitochondria in muscle tissue
51103	NDUFAF1	HP:0002342	Intellectual disability, moderate
51103	NDUFAF1	HP:0002352	Leukoencephalopathy
51103	NDUFAF1	HP:0000639	Nystagmus
51103	NDUFAF1	HP:0000618	Blindness
51103	NDUFAF1	HP:0001943	Hypoglycemia
51103	NDUFAF1	HP:0001942	Metabolic acidosis
51103	NDUFAF1	HP:0012748	Focal T2 hyperintense brainstem lesion
51103	NDUFAF1	HP:0003198	Myopathy
51103	NDUFAF1	HP:0003128	Lactic acidosis
51103	NDUFAF1	HP:0000819	Diabetes mellitus
51103	NDUFAF1	HP:0000817	Reduced eye contact
51103	NDUFAF1	HP:0000939	Osteoporosis
51103	NDUFAF1	HP:0007704	Paroxysmal involuntary eye movements
51103	NDUFAF1	HP:0002808	Kyphosis
51103	NDUFAF1	HP:0000252	Microcephaly
51103	NDUFAF1	HP:0001508	Failure to thrive
51103	NDUFAF1	HP:0001511	Intrauterine growth retardation
51103	NDUFAF1	HP:0001639	Hypertrophic cardiomyopathy
51103	NDUFAF1	HP:0001635	Congestive heart failure
51103	NDUFAF1	HP:0000407	Sensorineural hearing impairment
51103	NDUFAF1	HP:0001716	Wolff-Parkinson-White syndrome
51103	NDUFAF1	HP:0000486	Strabismus
51103	NDUFAF1	HP:0000508	Ptosis
51103	NDUFAF1	HP:0000580	Pigmentary retinopathy
51103	NDUFAF1	HP:0000543	Optic disc pallor
51109	RDH11	HP:0001156	Brachydactyly
51109	RDH11	HP:0001133	Constriction of peripheral visual field
51109	RDH11	HP:0001118	Juvenile cataract
51109	RDH11	HP:0009907	Attached earlobe
51109	RDH11	HP:0001263	Global developmental delay
51109	RDH11	HP:0001328	Specific learning disability
51109	RDH11	HP:0000007	Autosomal recessive inheritance
51109	RDH11	HP:0007675	Progressive night blindness
51109	RDH11	HP:0007010	Poor fine motor coordination
51109	RDH11	HP:0002342	Intellectual disability, moderate
51109	RDH11	HP:0010761	Broad columella
51109	RDH11	HP:0002311	Incoordination
51109	RDH11	HP:0000699	Diastema
51109	RDH11	HP:0000689	Dental malocclusion
51109	RDH11	HP:0000687	Widely spaced teeth
51109	RDH11	HP:0000662	Nyctalopia
51109	RDH11	HP:0001999	Abnormal facial shape
51109	RDH11	HP:0004322	Short stature
51109	RDH11	HP:0011463	Childhood onset
51109	RDH11	HP:0007722	Retinal pigment epithelial atrophy
51109	RDH11	HP:0000272	Malar flattening
51109	RDH11	HP:0007791	Patchy atrophy of the retinal pigment epithelium
51109	RDH11	HP:0007737	Bone spicule pigmentation of the retina
51109	RDH11	HP:0007843	Attenuation of retinal blood vessels
51109	RDH11	HP:0000369	Low-set ears
51109	RDH11	HP:0000347	Micrognathia
51109	RDH11	HP:0007965	Undetectable visual evoked potentials
51109	RDH11	HP:0000400	Macrotia
51109	RDH11	HP:0000494	Downslanted palpebral fissures
51109	RDH11	HP:0000470	Short neck
51109	RDH11	HP:0000430	Underdeveloped nasal alae
51109	RDH11	HP:0000518	Cataract
51109	RDH11	HP:0000510	Rod-cone dystrophy
51109	RDH11	HP:0000529	Progressive visual loss
51109	RDH11	HP:0000582	Upslanted palpebral fissure
51109	RDH11	HP:0000556	Retinal dystrophy
51111	KMT5B	HP:0001249	Intellectual disability
51111	KMT5B	HP:0001263	Global developmental delay
51111	KMT5B	HP:0000028	Cryptorchidism
51111	KMT5B	HP:0001344	Absent speech
51111	KMT5B	HP:0000006	Autosomal dominant inheritance
51111	KMT5B	HP:0002033	Poor suck
51111	KMT5B	HP:0002028	Chronic diarrhea
51111	KMT5B	HP:0002119	Ventriculomegaly
51111	KMT5B	HP:0010511	Long toe
51111	KMT5B	HP:0003593	Infantile onset
51111	KMT5B	HP:0007018	Attention deficit hyperactivity disorder
51111	KMT5B	HP:0011968	Feeding difficulties
51111	KMT5B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
51111	KMT5B	HP:0009765	Low hanging columella
51111	KMT5B	HP:0012741	Unilateral cryptorchidism
51111	KMT5B	HP:0100023	Recurrent hand flapping
51111	KMT5B	HP:0100033	Tics
51111	KMT5B	HP:0000750	Delayed speech and language development
51111	KMT5B	HP:0000718	Aggressive behavior
51111	KMT5B	HP:0000729	Autistic behavior
51111	KMT5B	HP:0012810	Wide nasal base
51111	KMT5B	HP:0000286	Epicanthus
51111	KMT5B	HP:0000256	Macrocephaly
51111	KMT5B	HP:0031354	Sleep onset insomnia
51111	KMT5B	HP:0001508	Failure to thrive
51111	KMT5B	HP:0000348	High forehead
51111	KMT5B	HP:0005338	Sparse lateral eyebrow
51111	KMT5B	HP:0000403	Recurrent otitis media
51111	KMT5B	HP:0032895	Febrile seizure outside the age of 3 months to 6 years
51111	KMT5B	HP:0012450	Chronic constipation
51111	KMT5B	HP:0001762	Talipes equinovarus
51111	KMT5B	HP:0000431	Wide nasal bridge
51111	KMT5B	HP:0001833	Long foot
51111	KMT5B	HP:0012520	Dilation of Virchow-Robin spaces
51112	TRAPPC12	HP:0002490	Increased CSF lactate
51112	TRAPPC12	HP:0009879	Simplified gyral pattern
51112	TRAPPC12	HP:0001298	Encephalopathy
51112	TRAPPC12	HP:0001274	Agenesis of corpus callosum
51112	TRAPPC12	HP:0001250	Seizure
51112	TRAPPC12	HP:0001257	Spasticity
51112	TRAPPC12	HP:0002521	Hypsarrhythmia
51112	TRAPPC12	HP:0001332	Dystonia
51112	TRAPPC12	HP:0000011	Neurogenic bladder
51112	TRAPPC12	HP:0001338	Partial agenesis of the corpus callosum
51112	TRAPPC12	HP:0000007	Autosomal recessive inheritance
51112	TRAPPC12	HP:0001336	Myoclonus
51112	TRAPPC12	HP:0002650	Scoliosis
51112	TRAPPC12	HP:0001321	Cerebellar hypoplasia
51112	TRAPPC12	HP:0008936	Axial hypotonia
51112	TRAPPC12	HP:0012110	Hypoplasia of the pons
51112	TRAPPC12	HP:0002020	Gastroesophageal reflux
51112	TRAPPC12	HP:0002015	Dysphagia
51112	TRAPPC12	HP:0002120	Cerebral cortical atrophy
51112	TRAPPC12	HP:0002119	Ventriculomegaly
51112	TRAPPC12	HP:0003593	Infantile onset
51112	TRAPPC12	HP:0003577	Congenital onset
51112	TRAPPC12	HP:0100704	Cerebral visual impairment
51112	TRAPPC12	HP:0011968	Feeding difficulties
51112	TRAPPC12	HP:0007096	Hypoplasia of the optic tract
51112	TRAPPC12	HP:0002376	Developmental regression
51112	TRAPPC12	HP:0003676	Progressive
51112	TRAPPC12	HP:0000648	Optic atrophy
51112	TRAPPC12	HP:0011344	Severe global developmental delay
51112	TRAPPC12	HP:0012796	Increased cup-to-disc ratio
51112	TRAPPC12	HP:0011471	Gastrostomy tube feeding in infancy
51112	TRAPPC12	HP:0011451	Primary microcephaly
51112	TRAPPC12	HP:0030890	Hyperintensity of cerebral white matter on MRI
51112	TRAPPC12	HP:0034311	Hypoplastic optic chiasm
51112	TRAPPC12	HP:0034353	Appendicular spasticity
51112	TRAPPC12	HP:0000252	Microcephaly
51112	TRAPPC12	HP:0001561	Polyhydramnios
51112	TRAPPC12	HP:0030043	Hip subluxation
51112	TRAPPC12	HP:0011097	Epileptic spasm
51112	TRAPPC12	HP:0001605	Vocal cord paralysis
51112	TRAPPC12	HP:0000365	Hearing impairment
51112	TRAPPC12	HP:0005484	Secondary microcephaly
51112	TRAPPC12	HP:0012510	Extra-axial cerebrospinal fluid accumulation
51114	ZDHHC9	HP:0001156	Brachydactyly
51114	ZDHHC9	HP:0001166	Arachnodactyly
51114	ZDHHC9	HP:0001250	Seizure
51114	ZDHHC9	HP:0001252	Hypotonia
51114	ZDHHC9	HP:0001249	Intellectual disability
51114	ZDHHC9	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
51114	ZDHHC9	HP:0000053	Macroorchidism
51114	ZDHHC9	HP:0002650	Scoliosis
51114	ZDHHC9	HP:0000164	Abnormality of the dentition
51114	ZDHHC9	HP:0001417	X-linked inheritance
51114	ZDHHC9	HP:0002167	Abnormality of speech or vocalization
51114	ZDHHC9	HP:0100490	Camptodactyly of finger
51114	ZDHHC9	HP:0100753	Schizophrenia
51114	ZDHHC9	HP:0007018	Attention deficit hyperactivity disorder
51114	ZDHHC9	HP:0000678	Dental crowding
51114	ZDHHC9	HP:0005692	Joint hyperflexibility
51114	ZDHHC9	HP:0000767	Pectus excavatum
51114	ZDHHC9	HP:0000768	Pectus carinatum
51114	ZDHHC9	HP:0000738	Hallucinations
51114	ZDHHC9	HP:0000709	Psychosis
51114	ZDHHC9	HP:0000708	Atypical behavior
51114	ZDHHC9	HP:0009183	Joint contracture of the 5th finger
51114	ZDHHC9	HP:0000256	Macrocephaly
51114	ZDHHC9	HP:0000275	Narrow face
51114	ZDHHC9	HP:0000248	Brachycephaly
51114	ZDHHC9	HP:0000218	High palate
51114	ZDHHC9	HP:0001519	Disproportionate tall stature
51114	ZDHHC9	HP:0001608	Abnormality of the voice
51114	ZDHHC9	HP:0001611	Hypernasal speech
51114	ZDHHC9	HP:0000369	Low-set ears
51114	ZDHHC9	HP:0000348	High forehead
51114	ZDHHC9	HP:0000347	Micrognathia
51114	ZDHHC9	HP:0000327	Hypoplasia of the maxilla
51114	ZDHHC9	HP:0000322	Short philtrum
51114	ZDHHC9	HP:0001631	Atrial septal defect
51114	ZDHHC9	HP:0000486	Strabismus
51114	ZDHHC9	HP:0001763	Pes planus
51114	ZDHHC9	HP:0000411	Protruding ear
51114	ZDHHC9	HP:0000426	Prominent nasal bridge
51116	MRPS2	HP:0002465	Poor speech
51116	MRPS2	HP:0001252	Hypotonia
51116	MRPS2	HP:0001249	Intellectual disability
51116	MRPS2	HP:0001263	Global developmental delay
51116	MRPS2	HP:0007340	Lower limb muscle weakness
51116	MRPS2	HP:0012072	Aciduria
51116	MRPS2	HP:0000007	Autosomal recessive inheritance
51116	MRPS2	HP:0003348	Hyperalaninemia
51116	MRPS2	HP:0003326	Myalgia
51116	MRPS2	HP:0002151	Increased serum lactate
51116	MRPS2	HP:0003593	Infantile onset
51116	MRPS2	HP:0003546	Exercise intolerance
51116	MRPS2	HP:0020049	Exodeviation
51116	MRPS2	HP:0002315	Headache
51116	MRPS2	HP:0100678	Premature skin wrinkling
51116	MRPS2	HP:0001943	Hypoglycemia
51116	MRPS2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
51116	MRPS2	HP:0031964	Elevated circulating alanine aminotransferase concentration
51116	MRPS2	HP:0001508	Failure to thrive
51116	MRPS2	HP:0000369	Low-set ears
51116	MRPS2	HP:0000407	Sensorineural hearing impairment
51116	MRPS2	HP:0000582	Upslanted palpebral fissure
51117	COQ4	HP:0001250	Seizure
51117	COQ4	HP:0001252	Hypotonia
51117	COQ4	HP:0001324	Muscle weakness
51117	COQ4	HP:0000007	Autosomal recessive inheritance
51117	COQ4	HP:0002650	Scoliosis
51117	COQ4	HP:0001321	Cerebellar hypoplasia
51117	COQ4	HP:0001319	Neonatal hypotonia
51117	COQ4	HP:0002015	Dysphagia
51117	COQ4	HP:0002093	Respiratory insufficiency
51117	COQ4	HP:0002151	Increased serum lactate
51117	COQ4	HP:0003577	Congenital onset
51117	COQ4	HP:0200134	Epileptic encephalopathy
51117	COQ4	HP:0002342	Intellectual disability, moderate
51117	COQ4	HP:0004383	Hypoplastic left heart
51117	COQ4	HP:0000286	Epicanthus
51117	COQ4	HP:0000280	Coarse facial features
51117	COQ4	HP:0001511	Intrauterine growth retardation
51117	COQ4	HP:0001643	Patent ductus arteriosus
51117	COQ4	HP:0001662	Bradycardia
51117	COQ4	HP:0001629	Ventricular septal defect
51117	COQ4	HP:0001639	Hypertrophic cardiomyopathy
51119	SBDS	HP:0001167	Abnormal finger morphology
51119	SBDS	HP:0410255	Transient neutropenia
51119	SBDS	HP:0410252	Chronic neutropenia
51119	SBDS	HP:0100806	Sepsis
51119	SBDS	HP:0001256	Intellectual disability, mild
51119	SBDS	HP:0001249	Intellectual disability
51119	SBDS	HP:0002594	Pancreatic hypoplasia
51119	SBDS	HP:0001263	Global developmental delay
51119	SBDS	HP:0002570	Steatorrhea
51119	SBDS	HP:0410289	Hypoamylasemia
51119	SBDS	HP:0001367	Abnormal joint morphology
51119	SBDS	HP:0001328	Specific learning disability
51119	SBDS	HP:0000007	Autosomal recessive inheritance
51119	SBDS	HP:0002643	Neonatal respiratory distress
51119	SBDS	HP:0002630	Fat malabsorption
51119	SBDS	HP:0000155	Oral ulcer
51119	SBDS	HP:0000121	Nephrocalcinosis
51119	SBDS	HP:0002754	Osteomyelitis
51119	SBDS	HP:0002750	Delayed skeletal maturation
51119	SBDS	HP:0002719	Recurrent infections
51119	SBDS	HP:0002718	Recurrent bacterial infections
51119	SBDS	HP:0002721	Immunodeficiency
51119	SBDS	HP:0003300	Ovoid vertebral bodies
51119	SBDS	HP:0002098	Respiratory distress
51119	SBDS	HP:0002090	Pneumonia
51119	SBDS	HP:0003375	Narrow greater sciatic notch
51119	SBDS	HP:0100512	Low levels of vitamin D
51119	SBDS	HP:0100513	Low levels of vitamin E
51119	SBDS	HP:0003411	Proximal femoral metaphyseal irregularity
51119	SBDS	HP:0011904	Persistence of hemoglobin F
51119	SBDS	HP:0011892	Low levels of vitamin K
51119	SBDS	HP:0002240	Hepatomegaly
51119	SBDS	HP:0004808	Acute myeloid leukemia
51119	SBDS	HP:0004979	Metaphyseal sclerosis
51119	SBDS	HP:0004905	Low levels of vitamin A
51119	SBDS	HP:0005528	Bone marrow hypocellularity
51119	SBDS	HP:0005518	Increased mean corpuscular volume
51119	SBDS	HP:0001972	Macrocytic anemia
51119	SBDS	HP:0001909	Leukemia
51119	SBDS	HP:0001903	Anemia
51119	SBDS	HP:0001915	Aplastic anemia
51119	SBDS	HP:0000684	Delayed eruption of teeth
51119	SBDS	HP:0000670	Carious teeth
51119	SBDS	HP:0004322	Short stature
51119	SBDS	HP:0004395	Malnutrition
51119	SBDS	HP:0003016	Metaphyseal widening
51119	SBDS	HP:0003025	Metaphyseal irregularity
51119	SBDS	HP:0000736	Short attention span
51119	SBDS	HP:0000729	Autistic behavior
51119	SBDS	HP:0000708	Atypical behavior
51119	SBDS	HP:0000774	Narrow chest
51119	SBDS	HP:0004429	Recurrent viral infections
51119	SBDS	HP:0000924	Abnormality of the skeletal system
51119	SBDS	HP:0000920	Enlargement of the costochondral junction
51119	SBDS	HP:0000907	Anterior rib cupping
51119	SBDS	HP:0000886	Deformed rib cage
51119	SBDS	HP:0000819	Diabetes mellitus
51119	SBDS	HP:0000824	Decreased response to growth hormone stimulation test
51119	SBDS	HP:0040075	Hypopituitarism
51119	SBDS	HP:0005871	Metaphyseal chondrodysplasia
51119	SBDS	HP:0040238	Impaired neutrophil chemotaxis
51119	SBDS	HP:0045027	Abnormality of the thoracic cavity
51119	SBDS	HP:0000988	Skin rash
51119	SBDS	HP:0000964	Eczema
51119	SBDS	HP:0000938	Osteopenia
51119	SBDS	HP:0008064	Ichthyosis
51119	SBDS	HP:0006461	Proximal femoral epiphysiolysis
51119	SBDS	HP:0030057	Autoimmune antibody positivity
51119	SBDS	HP:0002812	Coxa vara
51119	SBDS	HP:0000246	Sinusitis
51119	SBDS	HP:0012202	Increased serum bile acid concentration
51119	SBDS	HP:0000225	Gingival bleeding
51119	SBDS	HP:0002863	Myelodysplasia
51119	SBDS	HP:0031364	Ecchymosis
51119	SBDS	HP:0001508	Failure to thrive
51119	SBDS	HP:0001518	Small for gestational age
51119	SBDS	HP:0001510	Growth delay
51119	SBDS	HP:0006598	Irregular ossification at anterior rib ends
51119	SBDS	HP:0002910	Elevated hepatic transaminase
51119	SBDS	HP:0000365	Hearing impairment
51119	SBDS	HP:0011024	Abnormality of the gastrointestinal tract
51119	SBDS	HP:0000356	Abnormality of the outer ear
51119	SBDS	HP:0001627	Abnormal heart morphology
51119	SBDS	HP:0002953	Vertebral compression fracture
51119	SBDS	HP:0001738	Exocrine pancreatic insufficiency
51119	SBDS	HP:0001700	Myocardial necrosis
51119	SBDS	HP:0000421	Epistaxis
51119	SBDS	HP:0000573	Retinal hemorrhage
51119	SBDS	HP:0001896	Reticulocytopenia
51119	SBDS	HP:0001897	Normocytic anemia
51119	SBDS	HP:0001871	Abnormality of blood and blood-forming tissues
51119	SBDS	HP:0001882	Leukopenia
51119	SBDS	HP:0001873	Thrombocytopenia
51119	SBDS	HP:0001876	Pancytopenia
51119	SBDS	HP:0001875	Neutropenia
51124	IER3IP1	HP:0010851	EEG with burst suppression
51124	IER3IP1	HP:0009879	Simplified gyral pattern
51124	IER3IP1	HP:0001250	Seizure
51124	IER3IP1	HP:0001252	Hypotonia
51124	IER3IP1	HP:0001263	Global developmental delay
51124	IER3IP1	HP:0007334	Bilateral tonic-clonic seizure with focal onset
51124	IER3IP1	HP:0002521	Hypsarrhythmia
51124	IER3IP1	HP:0000046	Small scrotum
51124	IER3IP1	HP:0001348	Brisk reflexes
51124	IER3IP1	HP:0000028	Cryptorchidism
51124	IER3IP1	HP:0000007	Autosomal recessive inheritance
51124	IER3IP1	HP:0001321	Cerebellar hypoplasia
51124	IER3IP1	HP:0001319	Neonatal hypotonia
51124	IER3IP1	HP:0000135	Hypogonadism
51124	IER3IP1	HP:0008936	Axial hypotonia
51124	IER3IP1	HP:0002756	Pathologic fracture
51124	IER3IP1	HP:0002069	Bilateral tonic-clonic seizure
51124	IER3IP1	HP:0002079	Hypoplasia of the corpus callosum
51124	IER3IP1	HP:0002123	Generalized myoclonic seizure
51124	IER3IP1	HP:0002188	Delayed CNS myelination
51124	IER3IP1	HP:0002187	Intellectual disability, profound
51124	IER3IP1	HP:0002197	Generalized-onset seizure
51124	IER3IP1	HP:0003577	Congenital onset
51124	IER3IP1	HP:0002205	Recurrent respiratory infections
51124	IER3IP1	HP:0011968	Feeding difficulties
51124	IER3IP1	HP:0010804	Tented upper lip vermilion
51124	IER3IP1	HP:0000648	Optic atrophy
51124	IER3IP1	HP:0011451	Primary microcephaly
51124	IER3IP1	HP:0000819	Diabetes mellitus
51124	IER3IP1	HP:0003241	External genital hypoplasia
51124	IER3IP1	HP:0000952	Jaundice
51124	IER3IP1	HP:0000938	Osteopenia
51124	IER3IP1	HP:0000293	Full cheeks
51124	IER3IP1	HP:0000218	High palate
51124	IER3IP1	HP:0000212	Gingival overgrowth
51124	IER3IP1	HP:0001513	Obesity
51124	IER3IP1	HP:0002910	Elevated hepatic transaminase
51124	IER3IP1	HP:0000341	Narrow forehead
51124	IER3IP1	HP:0032794	Myoclonic seizure
51124	IER3IP1	HP:0000463	Anteverted nares
51124	IER3IP1	HP:0000508	Ptosis
51124	IER3IP1	HP:0012594	Moderate albuminuria
51126	NAA20	HP:0002465	Poor speech
51126	NAA20	HP:0001290	Generalized hypotonia
51126	NAA20	HP:0001252	Hypotonia
51126	NAA20	HP:0001249	Intellectual disability
51126	NAA20	HP:0001263	Global developmental delay
51126	NAA20	HP:0001347	Hyperreflexia
51126	NAA20	HP:0000007	Autosomal recessive inheritance
51126	NAA20	HP:0002650	Scoliosis
51126	NAA20	HP:0002033	Poor suck
51126	NAA20	HP:0002002	Deep philtrum
51126	NAA20	HP:0002066	Gait ataxia
51126	NAA20	HP:0003593	Infantile onset
51126	NAA20	HP:0100710	Impulsivity
51126	NAA20	HP:0011968	Feeding difficulties
51126	NAA20	HP:0002370	Poor coordination
51126	NAA20	HP:0003623	Neonatal onset
51126	NAA20	HP:0002307	Drooling
51126	NAA20	HP:0004209	Clinodactyly of the 5th finger
51126	NAA20	HP:0000687	Widely spaced teeth
51126	NAA20	HP:0030674	Antenatal onset
51126	NAA20	HP:0100023	Recurrent hand flapping
51126	NAA20	HP:0000737	Irritability
51126	NAA20	HP:0000717	Autism
51126	NAA20	HP:0000954	Single transverse palmar crease
51126	NAA20	HP:0000938	Osteopenia
51126	NAA20	HP:0000286	Epicanthus
51126	NAA20	HP:0000268	Dolichocephaly
51126	NAA20	HP:0000215	Thick upper lip vermilion
51126	NAA20	HP:0001558	Decreased fetal movement
51126	NAA20	HP:0005216	Impaired mastication
51126	NAA20	HP:0000358	Posteriorly rotated ears
51126	NAA20	HP:0000369	Low-set ears
51126	NAA20	HP:0000341	Narrow forehead
51126	NAA20	HP:0000350	Small forehead
51126	NAA20	HP:0001643	Patent ductus arteriosus
51126	NAA20	HP:0001629	Ventricular septal defect
51126	NAA20	HP:0032988	Persistent head lag
51126	NAA20	HP:0000494	Downslanted palpebral fissures
51126	NAA20	HP:0001763	Pes planus
51128	SAR1B	HP:0002495	Impaired vibratory sensation
51128	SAR1B	HP:0001284	Areflexia
51128	SAR1B	HP:0001249	Intellectual disability
51128	SAR1B	HP:0002570	Steatorrhea
51128	SAR1B	HP:0001397	Hepatic steatosis
51128	SAR1B	HP:0000007	Autosomal recessive inheritance
51128	SAR1B	HP:0001315	Reduced tendon reflexes
51128	SAR1B	HP:0002630	Fat malabsorption
51128	SAR1B	HP:0012153	Hypotriglyceridemia
51128	SAR1B	HP:0002014	Diarrhea
51128	SAR1B	HP:0002013	Vomiting
51128	SAR1B	HP:0100508	Abnormality of vitamin metabolism
51128	SAR1B	HP:0002155	Hypertriglyceridemia
51128	SAR1B	HP:0003458	EMG: myopathic abnormalities
51128	SAR1B	HP:0003593	Infantile onset
51128	SAR1B	HP:0003563	Decreased LDL cholesterol concentration
51128	SAR1B	HP:0010831	Impaired proprioception
51128	SAR1B	HP:0001927	Acanthocytosis
51128	SAR1B	HP:0003073	Hypoalbuminemia
51128	SAR1B	HP:0004395	Malnutrition
51128	SAR1B	HP:0003198	Myopathy
51128	SAR1B	HP:0003146	Hypocholesterolemia
51128	SAR1B	HP:0003270	Abdominal distention
51128	SAR1B	HP:0001508	Failure to thrive
51128	SAR1B	HP:0001510	Growth delay
51128	SAR1B	HP:0006565	Increased hepatocellular lipid droplets
51128	SAR1B	HP:0002910	Elevated hepatic transaminase
51128	SAR1B	HP:0000488	Retinopathy
51128	SAR1B	HP:0000505	Visual impairment
51132	RLIM	HP:0001156	Brachydactyly
51132	RLIM	HP:0002465	Poor speech
51132	RLIM	HP:0100962	Shyness
51132	RLIM	HP:0001290	Generalized hypotonia
51132	RLIM	HP:0001249	Intellectual disability
51132	RLIM	HP:0001263	Global developmental delay
51132	RLIM	HP:0001257	Spasticity
51132	RLIM	HP:0008734	Decreased testicular size
51132	RLIM	HP:0000054	Micropenis
51132	RLIM	HP:0000047	Hypospadias
51132	RLIM	HP:0001347	Hyperreflexia
51132	RLIM	HP:0000028	Cryptorchidism
51132	RLIM	HP:0001337	Tremor
51132	RLIM	HP:0000160	Narrow mouth
51132	RLIM	HP:0001419	X-linked recessive inheritance
51132	RLIM	HP:0002714	Downturned corners of mouth
51132	RLIM	HP:0002015	Dysphagia
51132	RLIM	HP:0002089	Pulmonary hypoplasia
51132	RLIM	HP:0002136	Broad-based gait
51132	RLIM	HP:0003593	Infantile onset
51132	RLIM	HP:0100716	Self-injurious behavior
51132	RLIM	HP:0002213	Fine hair
51132	RLIM	HP:0011968	Feeding difficulties
51132	RLIM	HP:0000635	Blue irides
51132	RLIM	HP:0000601	Hypotelorism
51132	RLIM	HP:0000687	Widely spaced teeth
51132	RLIM	HP:0011304	Broad thumb
51132	RLIM	HP:0004322	Short stature
51132	RLIM	HP:0000739	Anxiety
51132	RLIM	HP:0000750	Delayed speech and language development
51132	RLIM	HP:0000718	Aggressive behavior
51132	RLIM	HP:0000729	Autistic behavior
51132	RLIM	HP:0000776	Congenital diaphragmatic hernia
51132	RLIM	HP:0000275	Narrow face
51132	RLIM	HP:0000272	Malar flattening
51132	RLIM	HP:0001598	Concave nail
51132	RLIM	HP:0000252	Microcephaly
51132	RLIM	HP:0000220	Velopharyngeal insufficiency
51132	RLIM	HP:0001510	Growth delay
51132	RLIM	HP:0000337	Broad forehead
51132	RLIM	HP:0000347	Micrognathia
51132	RLIM	HP:0000316	Hypertelorism
51132	RLIM	HP:0001627	Abnormal heart morphology
51132	RLIM	HP:0000494	Downslanted palpebral fissures
51132	RLIM	HP:0001792	Small nail
51132	RLIM	HP:0001763	Pes planus
51132	RLIM	HP:0000448	Prominent nose
51132	RLIM	HP:0000444	Convex nasal ridge
51132	RLIM	HP:0000431	Wide nasal bridge
51132	RLIM	HP:0000426	Prominent nasal bridge
51134	CEP83	HP:0003774	Stage 5 chronic kidney disease
51134	CEP83	HP:0001249	Intellectual disability
51134	CEP83	HP:0000090	Nephronophthisis
51134	CEP83	HP:0000092	Renal tubular atrophy
51134	CEP83	HP:0001396	Cholestasis
51134	CEP83	HP:0000007	Autosomal recessive inheritance
51134	CEP83	HP:0004722	Thickened glomerular basement membrane
51134	CEP83	HP:0032118	Retinitis
51134	CEP83	HP:0001970	Tubulointerstitial nephritis
51134	CEP83	HP:0000822	Hypertension
51134	CEP83	HP:0000238	Hydrocephalus
51134	CEP83	HP:0006580	Portal fibrosis
51134	CEP83	HP:0000486	Strabismus
51135	IRAK4	HP:0410255	Transient neutropenia
51135	IRAK4	HP:0010975	Abnormal B cell count
51135	IRAK4	HP:0007499	Recurrent staphylococcal infections
51135	IRAK4	HP:0000007	Autosomal recessive inheritance
51135	IRAK4	HP:0002718	Recurrent bacterial infections
51135	IRAK4	HP:0002721	Immunodeficiency
51135	IRAK4	HP:0100523	Liver abscess
51135	IRAK4	HP:0011839	Abnormal T cell count
51135	IRAK4	HP:0020096	Recurrent streptococcal infections
51135	IRAK4	HP:0040089	Abnormal natural killer cell count
51135	IRAK4	HP:0003212	Increased circulating IgE level
51135	IRAK4	HP:0005366	Recurrent streptococcus pneumoniae infections
51135	IRAK4	HP:0001875	Neutropenia
51142	CHCHD2	HP:0001278	Orthostatic hypotension
51142	CHCHD2	HP:0001288	Gait disturbance
51142	CHCHD2	HP:0001347	Hyperreflexia
51142	CHCHD2	HP:0001337	Tremor
51142	CHCHD2	HP:0000006	Autosomal dominant inheritance
51142	CHCHD2	HP:0002019	Constipation
51142	CHCHD2	HP:0002067	Bradykinesia
51142	CHCHD2	HP:0002322	Resting tremor
51151	SLC45A2	HP:0001107	Ocular albinism
51151	SLC45A2	HP:0001104	Macular hypoplasia
51151	SLC45A2	HP:0003764	Nevus
51151	SLC45A2	HP:0000007	Autosomal recessive inheritance
51151	SLC45A2	HP:0007663	Reduced visual acuity
51151	SLC45A2	HP:0001010	Hypopigmentation of the skin
51151	SLC45A2	HP:0001022	Albinism
51151	SLC45A2	HP:0001072	Thickened skin
51151	SLC45A2	HP:0005599	Hypopigmentation of hair
51151	SLC45A2	HP:0000639	Nystagmus
51151	SLC45A2	HP:0000635	Blue irides
51151	SLC45A2	HP:0000613	Photophobia
51151	SLC45A2	HP:0011364	White hair
51151	SLC45A2	HP:0008069	Neoplasm of the skin
51151	SLC45A2	HP:0007703	Abnormality of retinal pigmentation
51151	SLC45A2	HP:0025551	Optic nerve misrouting
51151	SLC45A2	HP:0007750	Hypoplasia of the fovea
51151	SLC45A2	HP:0007730	Iris hypopigmentation
51151	SLC45A2	HP:0007894	Hypopigmentation of the fundus
51151	SLC45A2	HP:0000505	Visual impairment
51163	DBR1	HP:0000007	Autosomal recessive inheritance
51163	DBR1	HP:0003593	Infantile onset
51163	DBR1	HP:0003621	Juvenile onset
51163	DBR1	HP:0011342	Mild global developmental delay
51163	DBR1	HP:0011463	Childhood onset
51163	DBR1	HP:0033993	Viral encephalitis
51163	DBR1	HP:0001511	Intrauterine growth retardation
51164	DCTN4	HP:0032261	Nontuberculous mycobacterial pulmonary infection
51164	DCTN4	HP:0002570	Steatorrhea
51164	DCTN4	HP:0032342	Reduced forced expiratory volume in one second
51164	DCTN4	HP:0001392	Abnormality of the liver
51164	DCTN4	HP:0001394	Cirrhosis
51164	DCTN4	HP:0002726	Recurrent Staphylococcus aureus infections
51164	DCTN4	HP:0002724	Recurrent Aspergillus infections
51164	DCTN4	HP:0002024	Malabsorption
51164	DCTN4	HP:0002020	Gastroesophageal reflux
51164	DCTN4	HP:0002035	Rectal prolapse
51164	DCTN4	HP:0002099	Asthma
51164	DCTN4	HP:0100582	Nasal polyposis
51164	DCTN4	HP:0002110	Bronchiectasis
51164	DCTN4	HP:0002107	Pneumothorax
51164	DCTN4	HP:0002105	Hemoptysis
51164	DCTN4	HP:0002205	Recurrent respiratory infections
51164	DCTN4	HP:0000739	Anxiety
51164	DCTN4	HP:0000716	Depression
51164	DCTN4	HP:0000787	Nephrolithiasis
51164	DCTN4	HP:0004401	Meconium ileus
51164	DCTN4	HP:0012873	Absent vas deferens
51164	DCTN4	HP:0045082	Decreased body mass index
51164	DCTN4	HP:0000939	Osteoporosis
51164	DCTN4	HP:0000938	Osteopenia
51164	DCTN4	HP:0012236	Elevated sweat chloride
51164	DCTN4	HP:0000246	Sinusitis
51164	DCTN4	HP:0001508	Failure to thrive
51164	DCTN4	HP:0002842	Recurrent Burkholderia cepacia infections
51164	DCTN4	HP:0006536	Airway obstruction
51164	DCTN4	HP:0002910	Elevated hepatic transaminase
51164	DCTN4	HP:0000365	Hearing impairment
51164	DCTN4	HP:0005376	Recurrent Haemophilus influenzae infections
51164	DCTN4	HP:0001738	Exocrine pancreatic insufficiency
51168	MYO15A	HP:0000007	Autosomal recessive inheritance
51168	MYO15A	HP:0003577	Congenital onset
51168	MYO15A	HP:0011476	Profound sensorineural hearing impairment
51181	DCXR	HP:0000007	Autosomal recessive inheritance
51181	DCXR	HP:0031979	Abnormal urine carbohydrate level
51181	DCXR	HP:0003110	Abnormality of urine homeostasis
51181	DCXR	HP:0011021	Abnormality of circulating enzyme level
51181	DCXR	HP:0011013	Abnormal circulating carbohydrate concentration
51185	CRBN	HP:0010864	Intellectual disability, severe
51185	CRBN	HP:0001256	Intellectual disability, mild
51185	CRBN	HP:0001250	Seizure
51185	CRBN	HP:0001263	Global developmental delay
51185	CRBN	HP:0001344	Absent speech
51185	CRBN	HP:0000007	Autosomal recessive inheritance
51185	CRBN	HP:0003593	Infantile onset
51185	CRBN	HP:0100716	Self-injurious behavior
51185	CRBN	HP:0007018	Attention deficit hyperactivity disorder
51185	CRBN	HP:0031936	Delayed ability to walk
51196	PLCE1	HP:0003774	Stage 5 chronic kidney disease
51196	PLCE1	HP:0002586	Peritonitis
51196	PLCE1	HP:0000097	Focal segmental glomerulosclerosis
51196	PLCE1	HP:0000093	Proteinuria
51196	PLCE1	HP:0000007	Autosomal recessive inheritance
51196	PLCE1	HP:0000100	Nephrotic syndrome
51196	PLCE1	HP:0002027	Abdominal pain
51196	PLCE1	HP:0100539	Periorbital edema
51196	PLCE1	HP:0003593	Infantile onset
51196	PLCE1	HP:0011947	Respiratory tract infection
51196	PLCE1	HP:0003676	Progressive
51196	PLCE1	HP:0002315	Headache
51196	PLCE1	HP:0003621	Juvenile onset
51196	PLCE1	HP:0012622	Chronic kidney disease
51196	PLCE1	HP:0001967	Diffuse mesangial sclerosis
51196	PLCE1	HP:0001945	Fever
51196	PLCE1	HP:0003073	Hypoalbuminemia
51196	PLCE1	HP:0000737	Irritability
51196	PLCE1	HP:0000707	Abnormality of the nervous system
51196	PLCE1	HP:0011463	Childhood onset
51196	PLCE1	HP:0000969	Edema
51196	PLCE1	HP:0031504	Foamy urine
51196	PLCE1	HP:0012579	Minimal change glomerulonephritis
51199	NIN	HP:0001191	Abnormal carpal morphology
51199	NIN	HP:0010864	Intellectual disability, severe
51199	NIN	HP:0008551	Microtia
51199	NIN	HP:0001250	Seizure
51199	NIN	HP:0001263	Global developmental delay
51199	NIN	HP:0001385	Hip dysplasia
51199	NIN	HP:0008850	Severe postnatal growth retardation
51199	NIN	HP:0008846	Severe intrauterine growth retardation
51199	NIN	HP:0000013	Hypoplasia of the uterus
51199	NIN	HP:0000007	Autosomal recessive inheritance
51199	NIN	HP:0002750	Delayed skeletal maturation
51199	NIN	HP:0004626	Lumbar scoliosis
51199	NIN	HP:0011787	Central hypothyroidism
51199	NIN	HP:0003577	Congenital onset
51199	NIN	HP:0003510	Severe short stature
51199	NIN	HP:0009826	Limb undergrowth
51199	NIN	HP:0004209	Clinodactyly of the 5th finger
51199	NIN	HP:0004220	Short middle phalanx of the 5th finger
51199	NIN	HP:0000601	Hypotelorism
51199	NIN	HP:0011344	Severe global developmental delay
51199	NIN	HP:0004322	Short stature
51199	NIN	HP:0003067	Madelung deformity
51199	NIN	HP:0000786	Primary amenorrhea
51199	NIN	HP:0012814	Bilateral breast hypoplasia
51199	NIN	HP:0000252	Microcephaly
51199	NIN	HP:0001511	Intrauterine growth retardation
51199	NIN	HP:0001513	Obesity
51199	NIN	HP:0001607	Subglottic stenosis
51199	NIN	HP:0000448	Prominent nose
51204	TACO1	HP:0002490	Increased CSF lactate
51204	TACO1	HP:0025162	Severe temper tantrums
51204	TACO1	HP:0007256	Abnormal pyramidal sign
51204	TACO1	HP:0010864	Intellectual disability, severe
51204	TACO1	HP:0002415	Leukodystrophy
51204	TACO1	HP:0001285	Spastic tetraparesis
51204	TACO1	HP:0001250	Seizure
51204	TACO1	HP:0001252	Hypotonia
51204	TACO1	HP:0001249	Intellectual disability
51204	TACO1	HP:0001260	Dysarthria
51204	TACO1	HP:0001263	Global developmental delay
51204	TACO1	HP:0001257	Spasticity
51204	TACO1	HP:0001347	Hyperreflexia
51204	TACO1	HP:0001332	Dystonia
51204	TACO1	HP:0000007	Autosomal recessive inheritance
51204	TACO1	HP:0008972	Decreased activity of mitochondrial respiratory chain
51204	TACO1	HP:0002067	Bradykinesia
51204	TACO1	HP:0002064	Spastic gait
51204	TACO1	HP:0002073	Progressive cerebellar ataxia
51204	TACO1	HP:0002151	Increased serum lactate
51204	TACO1	HP:0002104	Apnea
51204	TACO1	HP:0032005	Hemidystonia
51204	TACO1	HP:0007020	Progressive spastic paraplegia
51204	TACO1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
51204	TACO1	HP:0009830	Peripheral neuropathy
51204	TACO1	HP:0003621	Juvenile onset
51204	TACO1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
51204	TACO1	HP:0000639	Nystagmus
51204	TACO1	HP:0000648	Optic atrophy
51204	TACO1	HP:0001941	Acidosis
51204	TACO1	HP:0000602	Ophthalmoplegia
51204	TACO1	HP:0001903	Anemia
51204	TACO1	HP:0004322	Short stature
51204	TACO1	HP:0100022	Abnormality of movement
51204	TACO1	HP:0000712	Emotional lability
51204	TACO1	HP:0011463	Childhood onset
51204	TACO1	HP:0000998	Hypertrichosis
51204	TACO1	HP:0001508	Failure to thrive
51204	TACO1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
51204	TACO1	HP:0000365	Hearing impairment
51204	TACO1	HP:0001629	Ventricular septal defect
51204	TACO1	HP:0001639	Hypertrophic cardiomyopathy
51204	TACO1	HP:0000486	Strabismus
51204	TACO1	HP:0000508	Ptosis
51204	TACO1	HP:0000580	Pigmentary retinopathy
51206	GP6	HP:0000007	Autosomal recessive inheritance
51206	GP6	HP:0000132	Menorrhagia
51206	GP6	HP:0011873	Abnormal platelet count
51206	GP6	HP:0011871	Impaired ristocetin-induced platelet aggregation
51206	GP6	HP:0003593	Infantile onset
51206	GP6	HP:0008320	Impaired collagen-induced platelet aggregation
51206	GP6	HP:0003010	Prolonged bleeding time
51206	GP6	HP:0000978	Bruising susceptibility
51206	GP6	HP:0031364	Ecchymosis
51206	GP6	HP:0000421	Epistaxis
51218	GLRX5	HP:0002497	Spastic ataxia
51218	GLRX5	HP:0002464	Spastic dysarthria
51218	GLRX5	HP:0007256	Abnormal pyramidal sign
51218	GLRX5	HP:0002415	Leukodystrophy
51218	GLRX5	HP:0032231	Hypochromia
51218	GLRX5	HP:0001290	Generalized hypotonia
51218	GLRX5	HP:0001276	Hypertonia
51218	GLRX5	HP:0001288	Gait disturbance
51218	GLRX5	HP:0001250	Seizure
51218	GLRX5	HP:0001251	Ataxia
51218	GLRX5	HP:0001264	Spastic diplegia
51218	GLRX5	HP:0001260	Dysarthria
51218	GLRX5	HP:0001257	Spasticity
51218	GLRX5	HP:0001394	Cirrhosis
51218	GLRX5	HP:0001347	Hyperreflexia
51218	GLRX5	HP:0000007	Autosomal recessive inheritance
51218	GLRX5	HP:0001336	Myoclonus
51218	GLRX5	HP:0012132	Erythroid hyperplasia
51218	GLRX5	HP:0008945	Loss of ability to walk in early childhood
51218	GLRX5	HP:0001433	Hepatosplenomegaly
51218	GLRX5	HP:0005978	Type II diabetes mellitus
51218	GLRX5	HP:0100543	Cognitive impairment
51218	GLRX5	HP:0100561	Spinal cord lesion
51218	GLRX5	HP:0002079	Hypoplasia of the corpus callosum
51218	GLRX5	HP:0003487	Babinski sign
51218	GLRX5	HP:0002154	Hyperglycinemia
51218	GLRX5	HP:0002151	Increased serum lactate
51218	GLRX5	HP:0002191	Progressive spasticity
51218	GLRX5	HP:0008288	Nonketotic hyperglycinemia
51218	GLRX5	HP:0002240	Hepatomegaly
51218	GLRX5	HP:0011968	Feeding difficulties
51218	GLRX5	HP:0002376	Developmental regression
51218	GLRX5	HP:0002317	Unsteady gait
51218	GLRX5	HP:0025066	Decreased mean corpuscular volume
51218	GLRX5	HP:0000639	Nystagmus
51218	GLRX5	HP:0000648	Optic atrophy
51218	GLRX5	HP:0001903	Anemia
51218	GLRX5	HP:0000737	Irritability
51218	GLRX5	HP:0000736	Short attention span
51218	GLRX5	HP:0003281	Increased circulating ferritin concentration
51218	GLRX5	HP:0000952	Jaundice
51218	GLRX5	HP:0002910	Elevated hepatic transaminase
51218	GLRX5	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
51218	GLRX5	HP:0002908	Conjugated hyperbilirubinemia
51218	GLRX5	HP:0001712	Left ventricular hypertrophy
51218	GLRX5	HP:0000486	Strabismus
51218	GLRX5	HP:0012465	Elevated hepatic iron concentration
51218	GLRX5	HP:0001744	Splenomegaly
51218	GLRX5	HP:0011273	Anisocytosis
51218	GLRX5	HP:0000505	Visual impairment
51227	PIGP	HP:0010851	EEG with burst suppression
51227	PIGP	HP:0010850	EEG with spike-wave complexes
51227	PIGP	HP:0002421	Poor head control
51227	PIGP	HP:0001272	Cerebellar atrophy
51227	PIGP	HP:0001250	Seizure
51227	PIGP	HP:0001249	Intellectual disability
51227	PIGP	HP:0001266	Choreoathetosis
51227	PIGP	HP:0001263	Global developmental delay
51227	PIGP	HP:0001257	Spasticity
51227	PIGP	HP:0007359	Focal-onset seizure
51227	PIGP	HP:0002540	Inability to walk
51227	PIGP	HP:0002521	Hypsarrhythmia
51227	PIGP	HP:0002509	Limb hypertonia
51227	PIGP	HP:0002506	Diffuse cerebral atrophy
51227	PIGP	HP:0000070	Ureterocele
51227	PIGP	HP:0001371	Flexion contracture
51227	PIGP	HP:0000054	Micropenis
51227	PIGP	HP:0001388	Joint laxity
51227	PIGP	HP:0001382	Joint hypermobility
51227	PIGP	HP:0001347	Hyperreflexia
51227	PIGP	HP:0001332	Dystonia
51227	PIGP	HP:0001344	Absent speech
51227	PIGP	HP:0000007	Autosomal recessive inheritance
51227	PIGP	HP:0001337	Tremor
51227	PIGP	HP:0001336	Myoclonus
51227	PIGP	HP:0001302	Pachygyria
51227	PIGP	HP:0000175	Cleft palate
51227	PIGP	HP:0008947	Infantile muscular hypotonia
51227	PIGP	HP:0008936	Axial hypotonia
51227	PIGP	HP:0000110	Renal dysplasia
51227	PIGP	HP:0002069	Bilateral tonic-clonic seizure
51227	PIGP	HP:0002079	Hypoplasia of the corpus callosum
51227	PIGP	HP:0002121	Generalized non-motor (absence) seizure
51227	PIGP	HP:0002131	Episodic ataxia
51227	PIGP	HP:0002187	Intellectual disability, profound
51227	PIGP	HP:0002169	Clonus
51227	PIGP	HP:0003593	Infantile onset
51227	PIGP	HP:0100704	Cerebral visual impairment
51227	PIGP	HP:0100716	Self-injurious behavior
51227	PIGP	HP:0200134	Epileptic encephalopathy
51227	PIGP	HP:0011968	Feeding difficulties
51227	PIGP	HP:0002360	Sleep disturbance
51227	PIGP	HP:0002376	Developmental regression
51227	PIGP	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
51227	PIGP	HP:0002353	EEG abnormality
51227	PIGP	HP:0010841	Multifocal epileptiform discharges
51227	PIGP	HP:0007204	Diffuse white matter abnormalities
51227	PIGP	HP:0100660	Dyskinesia
51227	PIGP	HP:0010819	Atonic seizure
51227	PIGP	HP:0010818	Generalized tonic seizure
51227	PIGP	HP:0003623	Neonatal onset
51227	PIGP	HP:0000752	Hyperactivity
51227	PIGP	HP:0000729	Autistic behavior
51227	PIGP	HP:0010174	Broad phalanx of the toes
51227	PIGP	HP:0000826	Precocious puberty
51227	PIGP	HP:0009381	Short finger
51227	PIGP	HP:0040195	Decreased head circumference
51227	PIGP	HP:0000252	Microcephaly
51227	PIGP	HP:0001537	Umbilical hernia
51227	PIGP	HP:0001508	Failure to thrive
51227	PIGP	HP:0001500	Broad finger
51227	PIGP	HP:0001510	Growth delay
51227	PIGP	HP:0000340	Sloping forehead
51227	PIGP	HP:0001629	Ventricular septal defect
51227	PIGP	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
51227	PIGP	HP:0011169	Generalized clonic seizure
51227	PIGP	HP:0005280	Depressed nasal bridge
51227	PIGP	HP:0000486	Strabismus
51227	PIGP	HP:0012469	Infantile spasms
51227	PIGP	HP:0000463	Anteverted nares
51227	PIGP	HP:0012448	Delayed myelination
51227	PIGP	HP:0012554	Absent thumbnail
51241	COX16	HP:0001298	Encephalopathy
51241	COX16	HP:0001399	Hepatic failure
51241	COX16	HP:0008872	Feeding difficulties in infancy
51241	COX16	HP:0000007	Autosomal recessive inheritance
51241	COX16	HP:0003348	Hyperalaninemia
51241	COX16	HP:0008160	3-hydroxydicarboxylic aciduria
51241	COX16	HP:0002119	Ventriculomegaly
51241	COX16	HP:0002181	Cerebral edema
51241	COX16	HP:0003542	Increased serum pyruvate
51241	COX16	HP:0008358	Hyperprolinemia
51241	COX16	HP:0008347	Decreased activity of mitochondrial complex IV
51241	COX16	HP:0002353	EEG abnormality
51241	COX16	HP:0008527	Congenital sensorineural hearing impairment
51241	COX16	HP:0033444	Elevated circulating dodecanoylcarnitine concentration
51241	COX16	HP:0033465	Elevated circulating tetradecanoylcarnitine concentration
51241	COX16	HP:0003623	Neonatal onset
51241	COX16	HP:0004900	Severe lactic acidosis
51241	COX16	HP:0001943	Hypoglycemia
51241	COX16	HP:0012707	Elevated brain lactate level by MRS
51241	COX16	HP:0012704	Widened subarachnoid space
51241	COX16	HP:0011461	Fetal onset
51241	COX16	HP:0003236	Elevated circulating creatine kinase concentration
51241	COX16	HP:0003219	Ethylmalonic aciduria
51241	COX16	HP:0003217	Hyperglutaminemia
51241	COX16	HP:0003215	Dicarboxylic aciduria
51241	COX16	HP:0003256	Abnormality of the coagulation cascade
51241	COX16	HP:0001522	Death in infancy
51241	COX16	HP:0001511	Intrauterine growth retardation
51241	COX16	HP:0002919	Ketonuria
51241	COX16	HP:0002910	Elevated hepatic transaminase
51241	COX16	HP:0001635	Congestive heart failure
51241	COX16	HP:0001712	Left ventricular hypertrophy
51241	COX16	HP:0012470	Setting-sun eye phenomenon
51241	COX16	HP:0012444	Brain atrophy
51241	COX16	HP:0012402	Increased urine alpha-ketoglutarate concentration
51244	CCDC174	HP:0001263	Global developmental delay
51244	CCDC174	HP:0000028	Cryptorchidism
51244	CCDC174	HP:0000007	Autosomal recessive inheritance
51244	CCDC174	HP:0001319	Neonatal hypotonia
51244	CCDC174	HP:0000194	Open mouth
51244	CCDC174	HP:0002747	Respiratory insufficiency due to muscle weakness
51244	CCDC174	HP:0002079	Hypoplasia of the corpus callosum
51244	CCDC174	HP:0002058	Myopathic facies
51244	CCDC174	HP:0003557	Increased variability in muscle fiber diameter
51244	CCDC174	HP:0006829	Severe muscular hypotonia
51244	CCDC174	HP:0006897	Abducens palsy
51244	CCDC174	HP:0006956	Lateral ventricle dilatation
51244	CCDC174	HP:0000750	Delayed speech and language development
51244	CCDC174	HP:0003198	Myopathy
51244	CCDC174	HP:0000276	Long face
51244	CCDC174	HP:0001558	Decreased fetal movement
51244	CCDC174	HP:0001629	Ventricular septal defect
51244	CCDC174	HP:0000486	Strabismus
51251	NT5C3A	HP:0000007	Autosomal recessive inheritance
51251	NT5C3A	HP:0003641	Hemoglobinuria
51251	NT5C3A	HP:0001878	Hemolytic anemia
51256	TBC1D7	HP:0001256	Intellectual disability, mild
51256	TBC1D7	HP:0001249	Intellectual disability
51256	TBC1D7	HP:0001263	Global developmental delay
51256	TBC1D7	HP:0008672	Calcium oxalate nephrolithiasis
51256	TBC1D7	HP:0001355	Megalencephaly
51256	TBC1D7	HP:0000007	Autosomal recessive inheritance
51256	TBC1D7	HP:0002608	Celiac disease
51256	TBC1D7	HP:0010499	Patellar subluxation
51256	TBC1D7	HP:0008239	Adrenal medullary hypoplasia
51256	TBC1D7	HP:0003593	Infantile onset
51256	TBC1D7	HP:0007074	Thick corpus callosum
51256	TBC1D7	HP:0000648	Optic atrophy
51256	TBC1D7	HP:0000750	Delayed speech and language development
51256	TBC1D7	HP:0000716	Depression
51256	TBC1D7	HP:0000709	Psychosis
51256	TBC1D7	HP:0030799	Scaphocephaly
51256	TBC1D7	HP:0000280	Coarse facial features
51256	TBC1D7	HP:0000256	Macrocephaly
51256	TBC1D7	HP:0000268	Dolichocephaly
51256	TBC1D7	HP:0000238	Hydrocephalus
51256	TBC1D7	HP:0002857	Genu valgum
51256	TBC1D7	HP:0000337	Broad forehead
51256	TBC1D7	HP:0000307	Pointed chin
51256	TBC1D7	HP:0000303	Mandibular prognathia
51256	TBC1D7	HP:0000483	Astigmatism
51256	TBC1D7	HP:0000486	Strabismus
51256	TBC1D7	HP:0000545	Myopia
51259	TMEM216	HP:0001177	Preaxial hand polydactyly
51259	TMEM216	HP:0001156	Brachydactyly
51259	TMEM216	HP:0001162	Postaxial hand polydactyly
51259	TMEM216	HP:0001161	Hand polydactyly
51259	TMEM216	HP:0100951	Enlarged fossa interpeduncularis
51259	TMEM216	HP:0001159	Syndactyly
51259	TMEM216	HP:0002444	Hypothalamic hamartoma
51259	TMEM216	HP:0002435	Meningocele
51259	TMEM216	HP:0002419	Molar tooth sign on MRI
51259	TMEM216	HP:0002404	Thickened superior cerebellar peduncle
51259	TMEM216	HP:0001290	Generalized hypotonia
51259	TMEM216	HP:0001273	Abnormal corpus callosum morphology
51259	TMEM216	HP:0001288	Gait disturbance
51259	TMEM216	HP:0001250	Seizure
51259	TMEM216	HP:0001252	Hypotonia
51259	TMEM216	HP:0001251	Ataxia
51259	TMEM216	HP:0001249	Intellectual disability
51259	TMEM216	HP:0001263	Global developmental delay
51259	TMEM216	HP:0002566	Intestinal malrotation
51259	TMEM216	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
51259	TMEM216	HP:0008689	Bilateral cryptorchidism
51259	TMEM216	HP:0008678	Renal hypoplasia/aplasia
51259	TMEM216	HP:0002553	Highly arched eyebrow
51259	TMEM216	HP:0002508	Brainstem dysplasia
51259	TMEM216	HP:0000083	Renal insufficiency
51259	TMEM216	HP:0000090	Nephronophthisis
51259	TMEM216	HP:0000068	Urethral atresia
51259	TMEM216	HP:0000062	Ambiguous genitalia
51259	TMEM216	HP:0000073	Ureteral duplication
51259	TMEM216	HP:0000037	Male pseudohermaphroditism
51259	TMEM216	HP:0000050	Hypoplastic male external genitalia
51259	TMEM216	HP:0000028	Cryptorchidism
51259	TMEM216	HP:0008872	Feeding difficulties in infancy
51259	TMEM216	HP:0006145	Central Y-shaped metacarpal
51259	TMEM216	HP:0000007	Autosomal recessive inheritance
51259	TMEM216	HP:0000003	Multicystic kidney dysplasia
51259	TMEM216	HP:0001337	Tremor
51259	TMEM216	HP:0001305	Dandy-Walker malformation
51259	TMEM216	HP:0001320	Cerebellar vermis hypoplasia
51259	TMEM216	HP:0002650	Scoliosis
51259	TMEM216	HP:0002612	Congenital hepatic fibrosis
51259	TMEM216	HP:0000180	Lobulated tongue
51259	TMEM216	HP:0000199	Tongue nodules
51259	TMEM216	HP:0000190	Abnormal oral frenulum morphology
51259	TMEM216	HP:0000175	Cleft palate
51259	TMEM216	HP:0002790	Neonatal breathing dysregulation
51259	TMEM216	HP:0002789	Tachypnea
51259	TMEM216	HP:0000112	Nephropathy
51259	TMEM216	HP:0000107	Renal cyst
51259	TMEM216	HP:0000104	Renal agenesis
51259	TMEM216	HP:0001408	Bile duct proliferation
51259	TMEM216	HP:0002007	Frontal bossing
51259	TMEM216	HP:0011802	Hamartoma of tongue
51259	TMEM216	HP:0002084	Encephalocele
51259	TMEM216	HP:0010442	Polydactyly
51259	TMEM216	HP:0010459	True hermaphroditism
51259	TMEM216	HP:0002104	Apnea
51259	TMEM216	HP:0011933	Elongated superior cerebellar peduncle
51259	TMEM216	HP:0002195	Dysgenesis of the cerebellar vermis
51259	TMEM216	HP:0002269	Abnormality of neuronal migration
51259	TMEM216	HP:0003577	Congenital onset
51259	TMEM216	HP:0002251	Aganglionic megacolon
51259	TMEM216	HP:0100732	Pancreatic fibrosis
51259	TMEM216	HP:0007036	Hypoplasia of olfactory tract
51259	TMEM216	HP:0002365	Hypoplasia of the brainstem
51259	TMEM216	HP:0002335	Agenesis of cerebellar vermis
51259	TMEM216	HP:0002323	Anencephaly
51259	TMEM216	HP:0006870	Lobar holoprosencephaly
51259	TMEM216	HP:0009084	Midline notch of upper alveolar ridge
51259	TMEM216	HP:0000639	Nystagmus
51259	TMEM216	HP:0000648	Optic atrophy
51259	TMEM216	HP:0000647	Sclerocornea
51259	TMEM216	HP:0000617	Abnormality of ocular smooth pursuit
51259	TMEM216	HP:0000618	Blindness
51259	TMEM216	HP:0000612	Iris coloboma
51259	TMEM216	HP:0011330	Metopic synostosis
51259	TMEM216	HP:0000657	Oculomotor apraxia
51259	TMEM216	HP:0004322	Short stature
51259	TMEM216	HP:0030680	Abnormality of cardiovascular system morphology
51259	TMEM216	HP:0000729	Autistic behavior
51259	TMEM216	HP:0000708	Atypical behavior
51259	TMEM216	HP:0011461	Fetal onset
51259	TMEM216	HP:0004422	Biparietal narrowing
51259	TMEM216	HP:0000864	Abnormality of the hypothalamus-pituitary axis
51259	TMEM216	HP:0010295	Aplasia/Hypoplasia of the tongue
51259	TMEM216	HP:0040019	Finger clinodactyly
51259	TMEM216	HP:0100260	Mesoaxial polydactyly
51259	TMEM216	HP:0100258	Preaxial polydactyly
51259	TMEM216	HP:0008053	Aplasia/Hypoplasia of the iris
51259	TMEM216	HP:0000286	Epicanthus
51259	TMEM216	HP:0000293	Full cheeks
51259	TMEM216	HP:0000256	Macrocephaly
51259	TMEM216	HP:0000276	Long face
51259	TMEM216	HP:0000268	Dolichocephaly
51259	TMEM216	HP:0007772	Impaired smooth pursuit
51259	TMEM216	HP:0000238	Hydrocephalus
51259	TMEM216	HP:0001583	Rotary nystagmus
51259	TMEM216	HP:0000252	Microcephaly
51259	TMEM216	HP:0000221	Furrowed tongue
51259	TMEM216	HP:0000218	High palate
51259	TMEM216	HP:0002876	Episodic tachypnea
51259	TMEM216	HP:0001562	Oligohydramnios
51259	TMEM216	HP:0002871	Central apnea
51259	TMEM216	HP:0001539	Omphalocele
51259	TMEM216	HP:0001508	Failure to thrive
51259	TMEM216	HP:0001511	Intrauterine growth retardation
51259	TMEM216	HP:0001510	Growth delay
51259	TMEM216	HP:0006487	Bowing of the long bones
51259	TMEM216	HP:0001696	Situs inversus totalis
51259	TMEM216	HP:0000369	Low-set ears
51259	TMEM216	HP:0000368	Low-set, posteriorly rotated ears
51259	TMEM216	HP:0000340	Sloping forehead
51259	TMEM216	HP:0000347	Micrognathia
51259	TMEM216	HP:0000316	Hypertelorism
51259	TMEM216	HP:0001627	Abnormal heart morphology
51259	TMEM216	HP:0001737	Pancreatic cysts
51259	TMEM216	HP:0000405	Conductive hearing impairment
51259	TMEM216	HP:0005280	Depressed nasal bridge
51259	TMEM216	HP:0000486	Strabismus
51259	TMEM216	HP:0000482	Microcornea
51259	TMEM216	HP:0000476	Cystic hygroma
51259	TMEM216	HP:0000463	Anteverted nares
51259	TMEM216	HP:0000455	Broad nasal tip
51259	TMEM216	HP:0000457	Depressed nasal ridge
51259	TMEM216	HP:0001746	Asplenia
51259	TMEM216	HP:0001747	Accessory spleen
51259	TMEM216	HP:0001760	Abnormal foot morphology
51259	TMEM216	HP:0000426	Prominent nasal bridge
51259	TMEM216	HP:0006706	Cystic liver disease
51259	TMEM216	HP:0000518	Cataract
51259	TMEM216	HP:0000528	Anophthalmia
51259	TMEM216	HP:0001829	Foot polydactyly
51259	TMEM216	HP:0000508	Ptosis
51259	TMEM216	HP:0000505	Visual impairment
51259	TMEM216	HP:0001830	Postaxial foot polydactyly
51259	TMEM216	HP:0000588	Optic disc coloboma
51259	TMEM216	HP:0000556	Retinal dystrophy
51259	TMEM216	HP:0000570	Abnormal saccadic eye movements
51259	TMEM216	HP:0000568	Microphthalmia
51259	TMEM216	HP:0000565	Esotropia
51259	TMEM216	HP:0000567	Chorioretinal coloboma
51259	TMEM216	HP:0000532	Abnormal chorioretinal morphology
51259	TMEM216	HP:0001883	Talipes
51271	UBAP1	HP:0007210	Lower limb amyotrophy
51271	UBAP1	HP:0001268	Mental deterioration
51271	UBAP1	HP:0001288	Gait disturbance
51271	UBAP1	HP:0001250	Seizure
51271	UBAP1	HP:0001260	Dysarthria
51271	UBAP1	HP:0001258	Spastic paraplegia
51271	UBAP1	HP:0007350	Hyperreflexia in upper limbs
51271	UBAP1	HP:0007340	Lower limb muscle weakness
51271	UBAP1	HP:0000020	Urinary incontinence
51271	UBAP1	HP:0001347	Hyperreflexia
51271	UBAP1	HP:0001332	Dystonia
51271	UBAP1	HP:0000012	Urinary urgency
51271	UBAP1	HP:0000006	Autosomal dominant inheritance
51271	UBAP1	HP:0002607	Bowel incontinence
51271	UBAP1	HP:0040307	Male sexual dysfunction
51271	UBAP1	HP:0100561	Spinal cord lesion
51271	UBAP1	HP:0002067	Bradykinesia
51271	UBAP1	HP:0003394	Muscle spasm
51271	UBAP1	HP:0002064	Spastic gait
51271	UBAP1	HP:0002061	Lower limb spasticity
51271	UBAP1	HP:0002070	Limb ataxia
51271	UBAP1	HP:0003487	Babinski sign
51271	UBAP1	HP:0003457	EMG abnormality
51271	UBAP1	HP:0002169	Clonus
51271	UBAP1	HP:0002166	Impaired vibration sensation in the lower limbs
51271	UBAP1	HP:0007020	Progressive spastic paraplegia
51271	UBAP1	HP:0002395	Lower limb hyperreflexia
51271	UBAP1	HP:0002355	Difficulty walking
51271	UBAP1	HP:0002314	Degeneration of the lateral corticospinal tracts
51271	UBAP1	HP:0010831	Impaired proprioception
51271	UBAP1	HP:0003621	Juvenile onset
51271	UBAP1	HP:0000640	Gaze-evoked nystagmus
51271	UBAP1	HP:0000641	Dysmetric saccades
51271	UBAP1	HP:0000605	Supranuclear gaze palsy
51271	UBAP1	HP:0006986	Upper limb spasticity
51271	UBAP1	HP:0011463	Childhood onset
51271	UBAP1	HP:0012898	Abnormal lower-limb motor evoked potentials
51271	UBAP1	HP:0008075	Progressive pes cavus
51271	UBAP1	HP:0030014	Female sexual dysfunction
51271	UBAP1	HP:0002921	Abnormal cerebrospinal fluid morphology
51271	UBAP1	HP:0001761	Pes cavus
51284	TLR7	HP:0025300	Malar rash
51284	TLR7	HP:0000155	Oral ulcer
51284	TLR7	HP:0001423	X-linked dominant inheritance
51284	TLR7	HP:0001419	X-linked recessive inheritance
51284	TLR7	HP:0002725	Systemic lupus erythematosus
51284	TLR7	HP:0002072	Chorea
51284	TLR7	HP:0033141	Severe SARS-CoV-2 infection
51284	TLR7	HP:0003493	Antinuclear antibody positivity
51284	TLR7	HP:0100735	Hypertensive crisis
51284	TLR7	HP:0033342	Anti-aquaporin 4 antibody positivity
51284	TLR7	HP:0002315	Headache
51284	TLR7	HP:0100653	Optic neuritis
51284	TLR7	HP:0003621	Juvenile onset
51284	TLR7	HP:0001973	Autoimmune thrombocytopenia
51284	TLR7	HP:0001945	Fever
51284	TLR7	HP:0001954	Recurrent fever
51284	TLR7	HP:0000739	Anxiety
51284	TLR7	HP:0030880	Raynaud phenomenon
51284	TLR7	HP:0045042	Decreased circulating complement C4 concentration
51284	TLR7	HP:0001596	Alopecia
51284	TLR7	HP:0002829	Arthralgia
51284	TLR7	HP:0001653	Mitral regurgitation
51284	TLR7	HP:0012486	Myelitis
51284	TLR7	HP:0025708	Early young adult onset
51284	TLR7	HP:0005421	Decreased circulating complement C3 concentration
51284	TLR7	HP:0031691	Severe viral infection
51284	TLR7	HP:0001888	Lymphopenia
51284	TLR7	HP:0001882	Leukopenia
51284	TLR7	HP:0001873	Thrombocytopenia
51293	CD320	HP:0000007	Autosomal recessive inheritance
51293	CD320	HP:0012120	Methylmalonic aciduria
51293	CD320	HP:0002160	Hyperhomocystinemia
51293	CD320	HP:0003593	Infantile onset
51293	CD320	HP:0003623	Neonatal onset
51293	CD320	HP:0002912	Methylmalonic acidemia
51294	PCDH12	HP:0001263	Global developmental delay
51294	PCDH12	HP:0002510	Spastic tetraplegia
51294	PCDH12	HP:0001347	Hyperreflexia
51294	PCDH12	HP:0001332	Dystonia
51294	PCDH12	HP:0000007	Autosomal recessive inheritance
51294	PCDH12	HP:0008936	Axial hypotonia
51294	PCDH12	HP:0002123	Generalized myoclonic seizure
51294	PCDH12	HP:0002187	Intellectual disability, profound
51294	PCDH12	HP:0003593	Infantile onset
51294	PCDH12	HP:0000253	Progressive microcephaly
51294	PCDH12	HP:0000252	Microcephaly
51294	PCDH12	HP:0001511	Intrauterine growth retardation
51294	PCDH12	HP:0005484	Secondary microcephaly
51294	PCDH12	HP:0000505	Visual impairment
51300	TIMMDC1	HP:0025116	Fetal distress
51300	TIMMDC1	HP:0002490	Increased CSF lactate
51300	TIMMDC1	HP:0001138	Optic neuropathy
51300	TIMMDC1	HP:0002421	Poor head control
51300	TIMMDC1	HP:0002415	Leukodystrophy
51300	TIMMDC1	HP:0003737	Mitochondrial myopathy
51300	TIMMDC1	HP:0001298	Encephalopathy
51300	TIMMDC1	HP:0001254	Lethargy
51300	TIMMDC1	HP:0001250	Seizure
51300	TIMMDC1	HP:0001252	Hypotonia
51300	TIMMDC1	HP:0001251	Ataxia
51300	TIMMDC1	HP:0001263	Global developmental delay
51300	TIMMDC1	HP:0003819	Death in childhood
51300	TIMMDC1	HP:0008872	Feeding difficulties in infancy
51300	TIMMDC1	HP:0001324	Muscle weakness
51300	TIMMDC1	HP:0000007	Autosomal recessive inheritance
51300	TIMMDC1	HP:0001336	Myoclonus
51300	TIMMDC1	HP:0001310	Dysmetria
51300	TIMMDC1	HP:0000114	Proximal tubulopathy
51300	TIMMDC1	HP:0002013	Vomiting
51300	TIMMDC1	HP:0002093	Respiratory insufficiency
51300	TIMMDC1	HP:0002119	Ventriculomegaly
51300	TIMMDC1	HP:0011923	Decreased activity of mitochondrial complex I
51300	TIMMDC1	HP:0003593	Infantile onset
51300	TIMMDC1	HP:0002240	Hepatomegaly
51300	TIMMDC1	HP:0003542	Increased serum pyruvate
51300	TIMMDC1	HP:0002205	Recurrent respiratory infections
51300	TIMMDC1	HP:0002280	Enlarged cisterna magna
51300	TIMMDC1	HP:0011968	Feeding difficulties
51300	TIMMDC1	HP:0008316	Abnormal mitochondria in muscle tissue
51300	TIMMDC1	HP:0002344	Progressive neurologic deterioration
51300	TIMMDC1	HP:0002352	Leukoencephalopathy
51300	TIMMDC1	HP:0009830	Peripheral neuropathy
51300	TIMMDC1	HP:0000639	Nystagmus
51300	TIMMDC1	HP:0000618	Blindness
51300	TIMMDC1	HP:0001943	Hypoglycemia
51300	TIMMDC1	HP:0012748	Focal T2 hyperintense brainstem lesion
51300	TIMMDC1	HP:0003128	Lactic acidosis
51300	TIMMDC1	HP:0000819	Diabetes mellitus
51300	TIMMDC1	HP:0000817	Reduced eye contact
51300	TIMMDC1	HP:0003202	Skeletal muscle atrophy
51300	TIMMDC1	HP:0007704	Paroxysmal involuntary eye movements
51300	TIMMDC1	HP:0000252	Microcephaly
51300	TIMMDC1	HP:0001508	Failure to thrive
51300	TIMMDC1	HP:0001511	Intrauterine growth retardation
51300	TIMMDC1	HP:0001639	Hypertrophic cardiomyopathy
51300	TIMMDC1	HP:0000407	Sensorineural hearing impairment
51300	TIMMDC1	HP:0000486	Strabismus
51300	TIMMDC1	HP:0000508	Ptosis
51300	TIMMDC1	HP:0000543	Optic disc pallor
51305	KCNK9	HP:0007269	Spinal muscular atrophy
51305	KCNK9	HP:0003758	Reduced subcutaneous adipose tissue
51305	KCNK9	HP:0001290	Generalized hypotonia
51305	KCNK9	HP:0001284	Areflexia
51305	KCNK9	HP:0001252	Hypotonia
51305	KCNK9	HP:0001249	Intellectual disability
51305	KCNK9	HP:0001263	Global developmental delay
51305	KCNK9	HP:0002553	Highly arched eyebrow
51305	KCNK9	HP:0008872	Feeding difficulties in infancy
51305	KCNK9	HP:0000006	Autosomal dominant inheritance
51305	KCNK9	HP:0001308	Tongue fasciculations
51305	KCNK9	HP:0001319	Neonatal hypotonia
51305	KCNK9	HP:0000194	Open mouth
51305	KCNK9	HP:0000193	Bifid uvula
51305	KCNK9	HP:0002705	High, narrow palate
51305	KCNK9	HP:0002015	Dysphagia
51305	KCNK9	HP:0011819	Submucous cleft soft palate
51305	KCNK9	HP:0040288	Nasogastric tube feeding
51305	KCNK9	HP:0008366	Foot joint contracture
51305	KCNK9	HP:0007002	Motor axonal neuropathy
51305	KCNK9	HP:0011968	Feeding difficulties
51305	KCNK9	HP:0010804	Tented upper lip vermilion
51305	KCNK9	HP:0000752	Hyperactivity
51305	KCNK9	HP:0005879	Congenital finger flexion contractures
51305	KCNK9	HP:0000954	Single transverse palmar crease
51305	KCNK9	HP:0000960	Sacral dimple
51305	KCNK9	HP:0000289	Broad philtrum
51305	KCNK9	HP:0000276	Long face
51305	KCNK9	HP:0000268	Dolichocephaly
51305	KCNK9	HP:0005060	Limited elbow flexion/extension
51305	KCNK9	HP:0000218	High palate
51305	KCNK9	HP:0011081	Incisor macrodontia
51305	KCNK9	HP:0030200	Fatiguable weakness of proximal limb muscles
51305	KCNK9	HP:0001618	Dysphonia
51305	KCNK9	HP:0030197	Fatigable weakness of skeletal muscles
51305	KCNK9	HP:0000341	Narrow forehead
51305	KCNK9	HP:0000338	Hypomimic face
51305	KCNK9	HP:0000347	Micrognathia
51305	KCNK9	HP:0000322	Short philtrum
51305	KCNK9	HP:0000308	Microretrognathia
51305	KCNK9	HP:0012471	Thick vermilion border
51305	KCNK9	HP:0000455	Broad nasal tip
51305	KCNK9	HP:0000446	Narrow nasal bridge
51305	KCNK9	HP:0000411	Protruding ear
51305	KCNK9	HP:0000527	Long eyelashes
51308	REEP2	HP:0001251	Ataxia
51308	REEP2	HP:0001260	Dysarthria
51308	REEP2	HP:0001258	Spastic paraplegia
51308	REEP2	HP:0001257	Spasticity
51308	REEP2	HP:0000007	Autosomal recessive inheritance
51308	REEP2	HP:0000006	Autosomal dominant inheritance
51308	REEP2	HP:0002063	Rigidity
51308	REEP2	HP:0002064	Spastic gait
51308	REEP2	HP:0003487	Babinski sign
51308	REEP2	HP:0002166	Impaired vibration sensation in the lower limbs
51308	REEP2	HP:0002174	Postural tremor
51308	REEP2	HP:0003552	Muscle stiffness
51308	REEP2	HP:0002395	Lower limb hyperreflexia
51308	REEP2	HP:0002354	Memory impairment
51308	REEP2	HP:0003677	Slowly progressive
51308	REEP2	HP:0003621	Juvenile onset
51308	REEP2	HP:0006938	Impaired vibration sensation at ankles
51308	REEP2	HP:0031993	Hoffmann sign
51308	REEP2	HP:0011463	Childhood onset
51308	REEP2	HP:0011446	Abnormality of higher mental function
51308	REEP2	HP:0002839	Urinary bladder sphincter dysfunction
51308	REEP2	HP:0030051	Tip-toe gait
51308	REEP2	HP:0001761	Pes cavus
51308	REEP2	HP:0012531	Pain
51311	TLR8	HP:0010976	B lymphocytopenia
51311	TLR8	HP:0012156	Hemophagocytosis
51311	TLR8	HP:0001417	X-linked inheritance
51311	TLR8	HP:0002719	Recurrent infections
51311	TLR8	HP:0002716	Lymphadenopathy
51311	TLR8	HP:0003453	Antineutrophil antibody positivity
51311	TLR8	HP:0003593	Infantile onset
51311	TLR8	HP:0002240	Hepatomegaly
51311	TLR8	HP:0011974	Myelofibrosis
51311	TLR8	HP:0100651	Type I diabetes mellitus
51311	TLR8	HP:0020102	Pneumocystis jirovecii pneumonia
51311	TLR8	HP:0003621	Juvenile onset
51311	TLR8	HP:0005528	Bone marrow hypocellularity
51311	TLR8	HP:0009098	Chronic oral candidiasis
51311	TLR8	HP:0004315	Decreased circulating IgG level
51311	TLR8	HP:0012234	Agranulocytosis
51311	TLR8	HP:0001510	Growth delay
51311	TLR8	HP:0000403	Recurrent otitis media
51311	TLR8	HP:0011107	Recurrent aphthous stomatitis
51311	TLR8	HP:0001744	Splenomegaly
51311	TLR8	HP:0025708	Early young adult onset
51311	TLR8	HP:0001890	Autoimmune hemolytic anemia
51311	TLR8	HP:0001873	Thrombocytopenia
51311	TLR8	HP:0001875	Neutropenia
51314	NME8	HP:0025177	Peribronchovascular interstitial thickening
51314	NME8	HP:0002566	Intestinal malrotation
51314	NME8	HP:0001217	Clubbing
51314	NME8	HP:0000007	Autosomal recessive inheritance
51314	NME8	HP:0002643	Neonatal respiratory distress
51314	NME8	HP:0000119	Abnormality of the genitourinary system
51314	NME8	HP:0032543	Lithoptysis
51314	NME8	HP:0031245	Productive cough
51314	NME8	HP:0002011	Morphological central nervous system abnormality
51314	NME8	HP:0100582	Nasal polyposis
51314	NME8	HP:0005938	Abnormal respiratory motile cilium morphology
51314	NME8	HP:0002119	Ventriculomegaly
51314	NME8	HP:0002110	Bronchiectasis
51314	NME8	HP:0008222	Female infertility
51314	NME8	HP:0002257	Chronic rhinitis
51314	NME8	HP:0200109	Absent/shortened outer dynein arms
51314	NME8	HP:0002205	Recurrent respiratory infections
51314	NME8	HP:0100750	Atelectasis
51314	NME8	HP:0032016	Abnormal sputum
51314	NME8	HP:0011947	Respiratory tract infection
51314	NME8	HP:0010772	Anomalous pulmonary venous return
51314	NME8	HP:0030680	Abnormality of cardiovascular system morphology
51314	NME8	HP:0000750	Delayed speech and language development
51314	NME8	HP:0000924	Abnormality of the skeletal system
51314	NME8	HP:0011539	Atrial situs ambiguous
51314	NME8	HP:0011535	Abnormal atrial arrangement
51314	NME8	HP:0030828	Wheezing
51314	NME8	HP:0003251	Male infertility
51314	NME8	HP:0011617	Pulmonary situs ambiguus
51314	NME8	HP:0025576	Abnormal inferior vena cava morphology
51314	NME8	HP:0012265	Ciliary dyskinesia
51314	NME8	HP:0012262	Abnormal ciliary motility
51314	NME8	HP:0000238	Hydrocephalus
51314	NME8	HP:0000246	Sinusitis
51314	NME8	HP:0012206	Abnormal sperm motility
51314	NME8	HP:0002878	Respiratory failure
51314	NME8	HP:0000389	Chronic otitis media
51314	NME8	HP:0006536	Airway obstruction
51314	NME8	HP:0001696	Situs inversus totalis
51314	NME8	HP:0000365	Hearing impairment
51314	NME8	HP:0001669	Transposition of the great arteries
51314	NME8	HP:0031456	Ectopic pregnancy
51314	NME8	HP:0001627	Abnormal heart morphology
51314	NME8	HP:0005301	Persistent left superior vena cava
51314	NME8	HP:0000403	Recurrent otitis media
51314	NME8	HP:0000405	Conductive hearing impairment
51314	NME8	HP:0001719	Double outlet right ventricle
51314	NME8	HP:0011109	Chronic sinusitis
51314	NME8	HP:0011108	Recurrent sinusitis
51314	NME8	HP:0001746	Asplenia
51314	NME8	HP:0001748	Polysplenia
51314	NME8	HP:0001742	Nasal congestion
51314	NME8	HP:0005425	Recurrent sinopulmonary infections
51314	NME8	HP:0011274	Recurrent mycobacterial infections
51314	NME8	HP:0000510	Rod-cone dystrophy
51317	PHF21A	HP:0001182	Tapered finger
51317	PHF21A	HP:0001159	Syndactyly
51317	PHF21A	HP:0001290	Generalized hypotonia
51317	PHF21A	HP:0001250	Seizure
51317	PHF21A	HP:0001249	Intellectual disability
51317	PHF21A	HP:0001263	Global developmental delay
51317	PHF21A	HP:0000054	Micropenis
51317	PHF21A	HP:0002697	Parietal foramina
51317	PHF21A	HP:0001357	Plagiocephaly
51317	PHF21A	HP:0002667	Nephroblastoma
51317	PHF21A	HP:0000006	Autosomal dominant inheritance
51317	PHF21A	HP:0002714	Downturned corners of mouth
51317	PHF21A	HP:0100777	Exostoses
51317	PHF21A	HP:0007018	Attention deficit hyperactivity disorder
51317	PHF21A	HP:0004209	Clinodactyly of the 5th finger
51317	PHF21A	HP:0000639	Nystagmus
51317	PHF21A	HP:0001903	Anemia
51317	PHF21A	HP:0001999	Abnormal facial shape
51317	PHF21A	HP:0004331	Decreased skull ossification
51317	PHF21A	HP:0000739	Anxiety
51317	PHF21A	HP:0000750	Delayed speech and language development
51317	PHF21A	HP:0000729	Autistic behavior
51317	PHF21A	HP:0000822	Hypertension
51317	PHF21A	HP:0000821	Hypothyroidism
51317	PHF21A	HP:0000823	Delayed puberty
51317	PHF21A	HP:0000286	Epicanthus
51317	PHF21A	HP:0000256	Macrocephaly
51317	PHF21A	HP:0000248	Brachycephaly
51317	PHF21A	HP:0001513	Obesity
51317	PHF21A	HP:0000347	Micrognathia
51317	PHF21A	HP:0000322	Short philtrum
51317	PHF21A	HP:0000486	Strabismus
51317	PHF21A	HP:0000455	Broad nasal tip
51317	PHF21A	HP:0000437	Depressed nasal tip
51317	PHF21A	HP:0000430	Underdeveloped nasal alae
51317	PHF21A	HP:0000426	Prominent nasal bridge
51319	RSRC1	HP:0025162	Severe temper tantrums
51319	RSRC1	HP:0001270	Motor delay
51319	RSRC1	HP:0001250	Seizure
51319	RSRC1	HP:0001252	Hypotonia
51319	RSRC1	HP:0001249	Intellectual disability
51319	RSRC1	HP:0001263	Global developmental delay
51319	RSRC1	HP:0000020	Urinary incontinence
51319	RSRC1	HP:0000007	Autosomal recessive inheritance
51319	RSRC1	HP:0003593	Infantile onset
51319	RSRC1	HP:0007018	Attention deficit hyperactivity disorder
51319	RSRC1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
51319	RSRC1	HP:0002307	Drooling
51319	RSRC1	HP:0000750	Delayed speech and language development
51319	RSRC1	HP:0000729	Autistic behavior
51319	RSRC1	HP:0000278	Retrognathia
51319	RSRC1	HP:0000252	Microcephaly
51319	RSRC1	HP:0000316	Hypertelorism
51319	RSRC1	HP:0000431	Wide nasal bridge
51322	WAC	HP:0001156	Brachydactyly
51322	WAC	HP:0001290	Generalized hypotonia
51322	WAC	HP:0001270	Motor delay
51322	WAC	HP:0001256	Intellectual disability, mild
51322	WAC	HP:0001250	Seizure
51322	WAC	HP:0001249	Intellectual disability
51322	WAC	HP:0001260	Dysarthria
51322	WAC	HP:0001263	Global developmental delay
51322	WAC	HP:0001212	Prominent fingertip pads
51322	WAC	HP:0012076	Borderline personality disorder
51322	WAC	HP:0001344	Absent speech
51322	WAC	HP:0000006	Autosomal dominant inheritance
51322	WAC	HP:0001321	Cerebellar hypoplasia
51322	WAC	HP:0001319	Neonatal hypotonia
51322	WAC	HP:0002608	Celiac disease
51322	WAC	HP:0000154	Wide mouth
51322	WAC	HP:0002793	Abnormal pattern of respiration
51322	WAC	HP:0000125	Pelvic kidney
51322	WAC	HP:0002714	Downturned corners of mouth
51322	WAC	HP:0002020	Gastroesophageal reflux
51322	WAC	HP:0002019	Constipation
51322	WAC	HP:0002015	Dysphagia
51322	WAC	HP:0011800	Midface retrusion
51322	WAC	HP:0002086	Abnormality of the respiratory system
51322	WAC	HP:0002099	Asthma
51322	WAC	HP:0002069	Bilateral tonic-clonic seizure
51322	WAC	HP:0002079	Hypoplasia of the corpus callosum
51322	WAC	HP:0100581	Dilatation of renal calices
51322	WAC	HP:0040288	Nasogastric tube feeding
51322	WAC	HP:0002119	Ventriculomegaly
51322	WAC	HP:0011822	Broad chin
51322	WAC	HP:0003593	Infantile onset
51322	WAC	HP:0100702	Arachnoid cyst
51322	WAC	HP:0100716	Self-injurious behavior
51322	WAC	HP:0002205	Recurrent respiratory infections
51322	WAC	HP:0007018	Attention deficit hyperactivity disorder
51322	WAC	HP:0011968	Feeding difficulties
51322	WAC	HP:0002360	Sleep disturbance
51322	WAC	HP:0001007	Hirsutism
51322	WAC	HP:0010800	Absent cupid's bow
51322	WAC	HP:0009794	Branchial anomaly
51322	WAC	HP:0004279	Short palm
51322	WAC	HP:0000637	Long palpebral fissure
51322	WAC	HP:0000646	Amblyopia
51322	WAC	HP:0001956	Truncal obesity
51322	WAC	HP:0001999	Abnormal facial shape
51322	WAC	HP:0000664	Synophrys
51322	WAC	HP:0012745	Short palpebral fissure
51322	WAC	HP:0000739	Anxiety
51322	WAC	HP:0000750	Delayed speech and language development
51322	WAC	HP:0012704	Widened subarachnoid space
51322	WAC	HP:0000718	Aggressive behavior
51322	WAC	HP:0000713	Agitation
51322	WAC	HP:0000729	Autistic behavior
51322	WAC	HP:0000708	Atypical behavior
51322	WAC	HP:0003196	Short nose
51322	WAC	HP:0003186	Inverted nipples
51322	WAC	HP:0000954	Single transverse palmar crease
51322	WAC	HP:0008081	Pes valgus
51322	WAC	HP:0000286	Epicanthus
51322	WAC	HP:0000280	Coarse facial features
51322	WAC	HP:0000293	Full cheeks
51322	WAC	HP:0000248	Brachycephaly
51322	WAC	HP:0000219	Thin upper lip vermilion
51322	WAC	HP:0001513	Obesity
51322	WAC	HP:0000377	Abnormal pinna morphology
51322	WAC	HP:0000395	Prominent antihelix
51322	WAC	HP:0000365	Hearing impairment
51322	WAC	HP:0000358	Posteriorly rotated ears
51322	WAC	HP:0000337	Broad forehead
51322	WAC	HP:0001680	Coarctation of aorta
51322	WAC	HP:0000321	Square face
51322	WAC	HP:0001647	Bicuspid aortic valve
51322	WAC	HP:0000316	Hypertelorism
51322	WAC	HP:0001643	Patent ductus arteriosus
51322	WAC	HP:0001642	Pulmonic stenosis
51322	WAC	HP:0001629	Ventricular septal defect
51322	WAC	HP:0001627	Abnormal heart morphology
51322	WAC	HP:0011171	Simple febrile seizure
51322	WAC	HP:0011147	Typical absence seizure
51322	WAC	HP:0000407	Sensorineural hearing impairment
51322	WAC	HP:0001714	Ventricular hypertrophy
51322	WAC	HP:0005288	Abnormal nostril morphology
51322	WAC	HP:0005280	Depressed nasal bridge
51322	WAC	HP:0000483	Astigmatism
51322	WAC	HP:0000486	Strabismus
51322	WAC	HP:0000494	Downslanted palpebral fissures
51322	WAC	HP:0000490	Deeply set eye
51322	WAC	HP:0000455	Broad nasal tip
51322	WAC	HP:0000470	Short neck
51322	WAC	HP:0012443	Abnormality of brain morphology
51322	WAC	HP:0001763	Pes planus
51322	WAC	HP:0000453	Choanal atresia
51322	WAC	HP:0000414	Bulbous nose
51322	WAC	HP:0000431	Wide nasal bridge
51322	WAC	HP:0000505	Visual impairment
51322	WAC	HP:0000504	Abnormality of vision
51322	WAC	HP:0011220	Prominent forehead
51322	WAC	HP:0000572	Visual loss
51322	WAC	HP:0000574	Thick eyebrow
51322	WAC	HP:0000567	Chorioretinal coloboma
51322	WAC	HP:0000540	Hypermetropia
51322	WAC	HP:0000539	Abnormality of refraction
51322	WAC	HP:0000545	Myopia
51324	SPG21	HP:0002476	Primitive reflex
51324	SPG21	HP:0007256	Abnormal pyramidal sign
51324	SPG21	HP:0001276	Hypertonia
51324	SPG21	HP:0001272	Cerebellar atrophy
51324	SPG21	HP:0001270	Motor delay
51324	SPG21	HP:0001268	Mental deterioration
51324	SPG21	HP:0001288	Gait disturbance
51324	SPG21	HP:0001260	Dysarthria
51324	SPG21	HP:0001263	Global developmental delay
51324	SPG21	HP:0001258	Spastic paraplegia
51324	SPG21	HP:0001257	Spasticity
51324	SPG21	HP:0007340	Lower limb muscle weakness
51324	SPG21	HP:0033683	Jaw hyperreflexia
51324	SPG21	HP:0012075	Personality disorder
51324	SPG21	HP:0001347	Hyperreflexia
51324	SPG21	HP:0033725	Thin corpus callosum
51324	SPG21	HP:0000007	Autosomal recessive inheritance
51324	SPG21	HP:0001317	Abnormal cerebellum morphology
51324	SPG21	HP:0002015	Dysphagia
51324	SPG21	HP:0002079	Hypoplasia of the corpus callosum
51324	SPG21	HP:0002075	Dysdiadochokinesis
51324	SPG21	HP:0002071	Abnormality of extrapyramidal motor function
51324	SPG21	HP:0002059	Cerebral atrophy
51324	SPG21	HP:0003487	Babinski sign
51324	SPG21	HP:0002186	Apraxia
51324	SPG21	HP:0010526	Dysgraphia
51324	SPG21	HP:0002355	Difficulty walking
51324	SPG21	HP:0003677	Slowly progressive
51324	SPG21	HP:0002313	Spastic paraparesis
51324	SPG21	HP:0009830	Peripheral neuropathy
51324	SPG21	HP:0002311	Incoordination
51324	SPG21	HP:0002305	Athetosis
51324	SPG21	HP:0006892	Frontotemporal cerebral atrophy
51324	SPG21	HP:0012672	Akinetic mutism
51324	SPG21	HP:0000726	Dementia
51324	SPG21	HP:0011463	Childhood onset
51324	SPG21	HP:0003134	Abnormality of peripheral nerve conduction
51324	SPG21	HP:0030891	Periventricular white matter hyperintensities
51339	DACT1	HP:0001177	Preaxial hand polydactyly
51339	DACT1	HP:0002475	Myelomeningocele
51339	DACT1	HP:0001140	Limbal dermoid
51339	DACT1	HP:0009944	Partial duplication of thumb phalanx
51339	DACT1	HP:0001199	Triphalangeal thumb
51339	DACT1	HP:0009912	Abnormal tragus morphology
51339	DACT1	HP:0008572	External ear malformation
51339	DACT1	HP:0008551	Microtia
51339	DACT1	HP:0001274	Agenesis of corpus callosum
51339	DACT1	HP:0001249	Intellectual disability
51339	DACT1	HP:0008736	Hypoplasia of penis
51339	DACT1	HP:0000089	Renal hypoplasia
51339	DACT1	HP:0000083	Renal insufficiency
51339	DACT1	HP:0000086	Ectopic kidney
51339	DACT1	HP:0000077	Abnormality of the kidney
51339	DACT1	HP:0000076	Vesicoureteral reflux
51339	DACT1	HP:0000048	Bifid scrotum
51339	DACT1	HP:0000047	Hypospadias
51339	DACT1	HP:0000028	Cryptorchidism
51339	DACT1	HP:0000006	Autosomal dominant inheritance
51339	DACT1	HP:0002650	Scoliosis
51339	DACT1	HP:0002607	Bowel incontinence
51339	DACT1	HP:0000143	Rectovaginal fistula
51339	DACT1	HP:0000142	Abnormal vagina morphology
51339	DACT1	HP:0000136	Bifid uterus
51339	DACT1	HP:0000154	Wide mouth
51339	DACT1	HP:0001482	Subcutaneous nodule
51339	DACT1	HP:0000130	Abnormality of the uterus
51339	DACT1	HP:0002023	Anal atresia
51339	DACT1	HP:0002019	Constipation
51339	DACT1	HP:0100559	Lower limb asymmetry
51339	DACT1	HP:0009465	Ulnar deviation of finger
51339	DACT1	HP:0010497	Sirenomelia
51339	DACT1	HP:0010481	Urethral valve
51339	DACT1	HP:0003468	Abnormal vertebral morphology
51339	DACT1	HP:0004792	Rectoperineal fistula
51339	DACT1	HP:0004736	Crossed fused renal ectopia
51339	DACT1	HP:0002323	Anencephaly
51339	DACT1	HP:0010760	Absent toe
51339	DACT1	HP:0002308	Chiari malformation
51339	DACT1	HP:0004209	Clinodactyly of the 5th finger
51339	DACT1	HP:0006824	Cranial nerve paralysis
51339	DACT1	HP:0010059	Broad hallux phalanx
51339	DACT1	HP:0005562	Multiple renal cysts
51339	DACT1	HP:0000612	Iris coloboma
51339	DACT1	HP:0011304	Broad thumb
51339	DACT1	HP:0004322	Short stature
51339	DACT1	HP:0030680	Abnormality of cardiovascular system morphology
51339	DACT1	HP:0000772	Abnormal rib morphology
51339	DACT1	HP:0000776	Congenital diaphragmatic hernia
51339	DACT1	HP:0000821	Hypothyroidism
51339	DACT1	HP:0000823	Delayed puberty
51339	DACT1	HP:0005857	Cervical spina bifida
51339	DACT1	HP:0003298	Spina bifida occulta
51339	DACT1	HP:0010331	Aplasia/Hypoplasia of the 3rd toe
51339	DACT1	HP:0010309	Bifid sternum
51339	DACT1	HP:0010301	Spinal dysraphism
51339	DACT1	HP:0001545	Anteriorly placed anus
51339	DACT1	HP:0001539	Omphalocele
51339	DACT1	HP:0001508	Failure to thrive
51339	DACT1	HP:0000384	Preauricular skin tag
51339	DACT1	HP:0000378	Cupped ear
51339	DACT1	HP:0000396	Overfolded helix
51339	DACT1	HP:0000365	Hearing impairment
51339	DACT1	HP:0001671	Abnormal cardiac septum morphology
51339	DACT1	HP:0001643	Patent ductus arteriosus
51339	DACT1	HP:0000324	Facial asymmetry
51339	DACT1	HP:0001641	Abnormal pulmonary valve morphology
51339	DACT1	HP:0001636	Tetralogy of Fallot
51339	DACT1	HP:0001631	Atrial septal defect
51339	DACT1	HP:0000486	Strabismus
51339	DACT1	HP:0001770	Toe syndactyly
51339	DACT1	HP:0001763	Pes planus
51339	DACT1	HP:0001760	Abnormal foot morphology
51339	DACT1	HP:0000518	Cataract
51339	DACT1	HP:0000504	Abnormality of vision
51339	DACT1	HP:0000581	Blepharophimosis
51339	DACT1	HP:0000568	Microphthalmia
51339	DACT1	HP:0000567	Chorioretinal coloboma
51339	DACT1	HP:0001863	Toe clinodactyly
51341	ZBTB7A	HP:0001270	Motor delay
51341	ZBTB7A	HP:0001250	Seizure
51341	ZBTB7A	HP:0001252	Hypotonia
51341	ZBTB7A	HP:0001249	Intellectual disability
51341	ZBTB7A	HP:0001263	Global developmental delay
51341	ZBTB7A	HP:0025352	Typically de novo
51341	ZBTB7A	HP:0000006	Autosomal dominant inheritance
51341	ZBTB7A	HP:0006335	Persistence of primary teeth
51341	ZBTB7A	HP:0002788	Recurrent upper respiratory tract infections
51341	ZBTB7A	HP:0002020	Gastroesophageal reflux
51341	ZBTB7A	HP:0002036	Hiatus hernia
51341	ZBTB7A	HP:0040261	Increased size of nasopharyngeal adenoids
51341	ZBTB7A	HP:0011904	Persistence of hemoglobin F
51341	ZBTB7A	HP:0010535	Sleep apnea
51341	ZBTB7A	HP:0003577	Congenital onset
51341	ZBTB7A	HP:0011968	Feeding difficulties
51341	ZBTB7A	HP:0000678	Dental crowding
51341	ZBTB7A	HP:0000750	Delayed speech and language development
51341	ZBTB7A	HP:0000729	Autistic behavior
51341	ZBTB7A	HP:0000256	Macrocephaly
51341	ZBTB7A	HP:0025502	Overweight
51341	ZBTB7A	HP:0001537	Umbilical hernia
51341	ZBTB7A	HP:0006532	Recurrent pneumonia
51341	ZBTB7A	HP:0001601	Laryngomalacia
51341	ZBTB7A	HP:0001643	Patent ductus arteriosus
51341	ZBTB7A	HP:0001629	Ventricular septal defect
51341	ZBTB7A	HP:0001631	Atrial septal defect
51341	ZBTB7A	HP:0000483	Astigmatism
51341	ZBTB7A	HP:0011220	Prominent forehead
51343	FZR1	HP:0010864	Intellectual disability, severe
51343	FZR1	HP:0002421	Poor head control
51343	FZR1	HP:0001298	Encephalopathy
51343	FZR1	HP:0001290	Generalized hypotonia
51343	FZR1	HP:0001273	Abnormal corpus callosum morphology
51343	FZR1	HP:0001268	Mental deterioration
51343	FZR1	HP:0001250	Seizure
51343	FZR1	HP:0001252	Hypotonia
51343	FZR1	HP:0001251	Ataxia
51343	FZR1	HP:0001249	Intellectual disability
51343	FZR1	HP:0001265	Hyporeflexia
51343	FZR1	HP:0001263	Global developmental delay
51343	FZR1	HP:0001257	Spasticity
51343	FZR1	HP:0002521	Hypsarrhythmia
51343	FZR1	HP:0002509	Limb hypertonia
51343	FZR1	HP:0001347	Hyperreflexia
51343	FZR1	HP:0001337	Tremor
51343	FZR1	HP:0000006	Autosomal dominant inheritance
51343	FZR1	HP:0001336	Myoclonus
51343	FZR1	HP:0001315	Reduced tendon reflexes
51343	FZR1	HP:0008936	Axial hypotonia
51343	FZR1	HP:0002020	Gastroesophageal reflux
51343	FZR1	HP:0002094	Dyspnea
51343	FZR1	HP:0002069	Bilateral tonic-clonic seizure
51343	FZR1	HP:0002066	Gait ataxia
51343	FZR1	HP:0002063	Rigidity
51343	FZR1	HP:0002059	Cerebral atrophy
51343	FZR1	HP:0002133	Status epilepticus
51343	FZR1	HP:0002188	Delayed CNS myelination
51343	FZR1	HP:0003593	Infantile onset
51343	FZR1	HP:0100710	Impulsivity
51343	FZR1	HP:0007018	Attention deficit hyperactivity disorder
51343	FZR1	HP:0011968	Feeding difficulties
51343	FZR1	HP:0002376	Developmental regression
51343	FZR1	HP:0002342	Intellectual disability, moderate
51343	FZR1	HP:0002355	Difficulty walking
51343	FZR1	HP:0002317	Unsteady gait
51343	FZR1	HP:0010844	EEG with multifocal slow activity
51343	FZR1	HP:0100660	Dyskinesia
51343	FZR1	HP:0010819	Atonic seizure
51343	FZR1	HP:0006813	Focal hemiclonic seizure
51343	FZR1	HP:0000639	Nystagmus
51343	FZR1	HP:0000648	Optic atrophy
51343	FZR1	HP:0011344	Severe global developmental delay
51343	FZR1	HP:0000668	Hypodontia
51343	FZR1	HP:0004322	Short stature
51343	FZR1	HP:0004305	Involuntary movements
51343	FZR1	HP:0034197	Third trimester onset
51343	FZR1	HP:0000752	Hyperactivity
51343	FZR1	HP:0000750	Delayed speech and language development
51343	FZR1	HP:0000717	Autism
51343	FZR1	HP:0000729	Autistic behavior
51343	FZR1	HP:0000708	Atypical behavior
51343	FZR1	HP:0011463	Childhood onset
51343	FZR1	HP:0011443	Abnormality of coordination
51343	FZR1	HP:0011451	Primary microcephaly
51343	FZR1	HP:0000252	Microcephaly
51343	FZR1	HP:0001558	Decreased fetal movement
51343	FZR1	HP:0001508	Failure to thrive
51343	FZR1	HP:0001511	Intrauterine growth retardation
51343	FZR1	HP:0025682	Crouch gait
51343	FZR1	HP:0032792	Tonic seizure
51343	FZR1	HP:0000348	High forehead
51343	FZR1	HP:0032794	Myoclonic seizure
51343	FZR1	HP:0011147	Typical absence seizure
51343	FZR1	HP:0001712	Left ventricular hypertrophy
51343	FZR1	HP:0000494	Downslanted palpebral fissures
51343	FZR1	HP:0012444	Brain atrophy
51343	FZR1	HP:0012447	Abnormal myelination
51343	FZR1	HP:0000508	Ptosis
51343	FZR1	HP:0000504	Abnormality of vision
51343	FZR1	HP:0012547	Abnormal involuntary eye movements
51343	FZR1	HP:0000546	Retinal degeneration
51360	MBTPS2	HP:0001155	Abnormality of the hand
51360	MBTPS2	HP:0001162	Postaxial hand polydactyly
51360	MBTPS2	HP:0001131	Corneal dystrophy
51360	MBTPS2	HP:0010935	Abnormality of the upper urinary tract
51360	MBTPS2	HP:0010864	Intellectual disability, severe
51360	MBTPS2	HP:0001274	Agenesis of corpus callosum
51360	MBTPS2	HP:0001270	Motor delay
51360	MBTPS2	HP:0100825	Cheilitis
51360	MBTPS2	HP:0001268	Mental deterioration
51360	MBTPS2	HP:0001250	Seizure
51360	MBTPS2	HP:0001252	Hypotonia
51360	MBTPS2	HP:0001249	Intellectual disability
51360	MBTPS2	HP:0001263	Global developmental delay
51360	MBTPS2	HP:0001231	Abnormal fingernail morphology
51360	MBTPS2	HP:0007418	Alopecia totalis
51360	MBTPS2	HP:0007410	Palmoplantar hyperhidrosis
51360	MBTPS2	HP:0008734	Decreased testicular size
51360	MBTPS2	HP:0500262	Atrichia
51360	MBTPS2	HP:0031057	Skin fissure
51360	MBTPS2	HP:0002542	Olivopontocerebellar atrophy
51360	MBTPS2	HP:0031013	Ankylosis
51360	MBTPS2	HP:0003819	Death in childhood
51360	MBTPS2	HP:0003811	Neonatal death
51360	MBTPS2	HP:0000089	Renal hypoplasia
51360	MBTPS2	HP:0000077	Abnormality of the kidney
51360	MBTPS2	HP:0000076	Vesicoureteral reflux
51360	MBTPS2	HP:0000072	Hydroureter
51360	MBTPS2	HP:0001382	Joint hypermobility
51360	MBTPS2	HP:0000047	Hypospadias
51360	MBTPS2	HP:0000023	Inguinal hernia
51360	MBTPS2	HP:0001357	Plagiocephaly
51360	MBTPS2	HP:0000028	Cryptorchidism
51360	MBTPS2	HP:0007502	Follicular hyperkeratosis
51360	MBTPS2	HP:0001331	Absent septum pellucidum
51360	MBTPS2	HP:0001328	Specific learning disability
51360	MBTPS2	HP:0000003	Multicystic kidney dysplasia
51360	MBTPS2	HP:0002650	Scoliosis
51360	MBTPS2	HP:0001321	Cerebellar hypoplasia
51360	MBTPS2	HP:0008905	Rhizomelia
51360	MBTPS2	HP:0012165	Oligodactyly
51360	MBTPS2	HP:0000164	Abnormality of the dentition
51360	MBTPS2	HP:0012157	Subcortical cerebral atrophy
51360	MBTPS2	HP:0000157	Abnormality of the tongue
51360	MBTPS2	HP:0000175	Cleft palate
51360	MBTPS2	HP:0000168	Abnormality of the gingiva
51360	MBTPS2	HP:0002797	Osteolysis
51360	MBTPS2	HP:0031291	Ichthyosis follicularis
51360	MBTPS2	HP:0000122	Unilateral renal agenesis
51360	MBTPS2	HP:0002788	Recurrent upper respiratory tract infections
51360	MBTPS2	HP:0000126	Hydronephrosis
51360	MBTPS2	HP:0002757	Recurrent fractures
51360	MBTPS2	HP:0000110	Renal dysplasia
51360	MBTPS2	HP:0000104	Renal agenesis
51360	MBTPS2	HP:0002750	Delayed skeletal maturation
51360	MBTPS2	HP:0001419	X-linked recessive inheritance
51360	MBTPS2	HP:0002719	Recurrent infections
51360	MBTPS2	HP:0002718	Recurrent bacterial infections
51360	MBTPS2	HP:0002721	Immunodeficiency
51360	MBTPS2	HP:0002007	Frontal bossing
51360	MBTPS2	HP:0003316	Butterfly vertebrae
51360	MBTPS2	HP:0100526	Neoplasm of the lung
51360	MBTPS2	HP:0100534	Episcleritis
51360	MBTPS2	HP:0100532	Scleritis
51360	MBTPS2	HP:0033195	Perianal erythema
51360	MBTPS2	HP:0002079	Hypoplasia of the corpus callosum
51360	MBTPS2	HP:0002046	Heat intolerance
51360	MBTPS2	HP:0100565	Hydromyelia
51360	MBTPS2	HP:0003468	Abnormal vertebral morphology
51360	MBTPS2	HP:0002120	Cerebral cortical atrophy
51360	MBTPS2	HP:0002119	Ventriculomegaly
51360	MBTPS2	HP:0002164	Nail dysplasia
51360	MBTPS2	HP:0100490	Camptodactyly of finger
51360	MBTPS2	HP:0011830	Abnormal oral mucosa morphology
51360	MBTPS2	HP:0003577	Congenital onset
51360	MBTPS2	HP:0002251	Aganglionic megacolon
51360	MBTPS2	HP:0002223	Absent eyebrow
51360	MBTPS2	HP:0002209	Sparse scalp hair
51360	MBTPS2	HP:0002205	Recurrent respiratory infections
51360	MBTPS2	HP:0008404	Nail dystrophy
51360	MBTPS2	HP:0011968	Feeding difficulties
51360	MBTPS2	HP:0003510	Severe short stature
51360	MBTPS2	HP:0008392	Subungual hyperkeratosis
51360	MBTPS2	HP:0008391	Dystrophic fingernails
51360	MBTPS2	HP:0001036	Parakeratosis
51360	MBTPS2	HP:0002376	Developmental regression
51360	MBTPS2	HP:0001041	Facial erythema
51360	MBTPS2	HP:0001025	Urticaria
51360	MBTPS2	HP:0001019	Erythroderma
51360	MBTPS2	HP:0200020	Corneal erosion
51360	MBTPS2	HP:0025092	Epidermal acanthosis
51360	MBTPS2	HP:0200034	Papule
51360	MBTPS2	HP:0025084	Folliculitis
51360	MBTPS2	HP:0001072	Thickened skin
51360	MBTPS2	HP:0200042	Skin ulcer
51360	MBTPS2	HP:0010783	Erythema
51360	MBTPS2	HP:0032152	Keratosis pilaris
51360	MBTPS2	HP:0008422	Vertebral wedging
51360	MBTPS2	HP:0002308	Chiari malformation
51360	MBTPS2	HP:0033425	Periungual erythema
51360	MBTPS2	HP:0000639	Nystagmus
51360	MBTPS2	HP:0000613	Photophobia
51360	MBTPS2	HP:0000612	Iris coloboma
51360	MBTPS2	HP:0000614	Abnormal nasolacrimal system morphology
51360	MBTPS2	HP:0000609	Optic nerve hypoplasia
51360	MBTPS2	HP:0000682	Abnormal dental enamel morphology
51360	MBTPS2	HP:0000656	Ectropion
51360	MBTPS2	HP:0000653	Sparse eyelashes
51360	MBTPS2	HP:0000670	Carious teeth
51360	MBTPS2	HP:0000668	Hypodontia
51360	MBTPS2	HP:0004322	Short stature
51360	MBTPS2	HP:0030674	Antenatal onset
51360	MBTPS2	HP:0004370	Abnormality of temperature regulation
51360	MBTPS2	HP:0012742	Thin fingernail
51360	MBTPS2	HP:0000767	Pectus excavatum
51360	MBTPS2	HP:0000768	Pectus carinatum
51360	MBTPS2	HP:0000726	Dementia
51360	MBTPS2	HP:0000703	Dentinogenesis imperfecta
51360	MBTPS2	HP:0011496	Corneal neovascularization
51360	MBTPS2	HP:0000925	Abnormality of the vertebral column
51360	MBTPS2	HP:0000926	Platyspondyly
51360	MBTPS2	HP:0100308	Cerebral cortical hemiatrophy
51360	MBTPS2	HP:0000822	Hypertension
51360	MBTPS2	HP:0004552	Scarring alopecia of scalp
51360	MBTPS2	HP:0005855	Multiple prenatal fractures
51360	MBTPS2	HP:0045075	Sparse eyebrow
51360	MBTPS2	HP:0045074	Thin eyebrow
51360	MBTPS2	HP:0004586	Biconcave vertebral bodies
51360	MBTPS2	HP:0100257	Ectrodactyly
51360	MBTPS2	HP:0000972	Palmoplantar hyperkeratosis
51360	MBTPS2	HP:0000982	Palmoplantar keratoderma
51360	MBTPS2	HP:0000958	Dry skin
51360	MBTPS2	HP:0000970	Anhidrosis
51360	MBTPS2	HP:0000968	Ectodermal dysplasia
51360	MBTPS2	HP:0000964	Eczema
51360	MBTPS2	HP:0000966	Hypohidrosis
51360	MBTPS2	HP:0000962	Hyperkeratosis
51360	MBTPS2	HP:0000938	Osteopenia
51360	MBTPS2	HP:0040163	Abnormal pelvis bone morphology
51360	MBTPS2	HP:0008070	Sparse hair
51360	MBTPS2	HP:0008064	Ichthyosis
51360	MBTPS2	HP:0008069	Neoplasm of the skin
51360	MBTPS2	HP:0040189	Scaling skin
51360	MBTPS2	HP:0001595	Abnormal hair morphology
51360	MBTPS2	HP:0001597	Abnormality of the nail
51360	MBTPS2	HP:0001596	Alopecia
51360	MBTPS2	HP:0007759	Opacification of the corneal stroma
51360	MBTPS2	HP:0002827	Hip dislocation
51360	MBTPS2	HP:0002808	Kyphosis
51360	MBTPS2	HP:0000238	Hydrocephalus
51360	MBTPS2	HP:0000252	Microcephaly
51360	MBTPS2	HP:0001581	Recurrent skin infections
51360	MBTPS2	HP:0001562	Oligohydramnios
51360	MBTPS2	HP:0002861	Melanoma
51360	MBTPS2	HP:0001522	Death in infancy
51360	MBTPS2	HP:0001537	Umbilical hernia
51360	MBTPS2	HP:0001539	Omphalocele
51360	MBTPS2	HP:0001508	Failure to thrive
51360	MBTPS2	HP:0030054	Perifollicular fibrosis
51360	MBTPS2	HP:0001511	Intrauterine growth retardation
51360	MBTPS2	HP:0001510	Growth delay
51360	MBTPS2	HP:0005254	Unilateral chest hypoplasia
51360	MBTPS2	HP:0002937	Hemivertebrae
51360	MBTPS2	HP:0006488	Bowing of the arm
51360	MBTPS2	HP:0000365	Hearing impairment
51360	MBTPS2	HP:0000369	Low-set ears
51360	MBTPS2	HP:0002979	Bowing of the legs
51360	MBTPS2	HP:0025610	Posterior blepharitis
51360	MBTPS2	HP:0001631	Atrial septal defect
51360	MBTPS2	HP:0007957	Corneal opacity
51360	MBTPS2	HP:0000499	Abnormal eyelash morphology
51360	MBTPS2	HP:0000498	Blepharitis
51360	MBTPS2	HP:0005343	Hypoplasia of the bladder
51360	MBTPS2	HP:0000407	Sensorineural hearing impairment
51360	MBTPS2	HP:0000400	Macrotia
51360	MBTPS2	HP:0000483	Astigmatism
51360	MBTPS2	HP:0000495	Recurrent corneal erosions
51360	MBTPS2	HP:0000491	Keratitis
51360	MBTPS2	HP:0000492	Abnormal eyelid morphology
51360	MBTPS2	HP:0012444	Brain atrophy
51360	MBTPS2	HP:0012443	Abnormality of brain morphology
51360	MBTPS2	HP:0000453	Choanal atresia
51360	MBTPS2	HP:0000452	Choanal stenosis
51360	MBTPS2	HP:0000444	Convex nasal ridge
51360	MBTPS2	HP:0000411	Protruding ear
51360	MBTPS2	HP:0000509	Conjunctivitis
51360	MBTPS2	HP:0000508	Ptosis
51360	MBTPS2	HP:0001804	Hypoplastic fingernail
51360	MBTPS2	HP:0001812	Hyperconvex fingernails
51360	MBTPS2	HP:0000592	Blue sclerae
51360	MBTPS2	HP:0000561	Absent eyelashes
51360	MBTPS2	HP:0000554	Uveitis
51360	MBTPS2	HP:0000568	Microphthalmia
51360	MBTPS2	HP:0000545	Myopia
51362	CDC40	HP:0410252	Chronic neutropenia
51362	CDC40	HP:0010862	Delayed fine motor development
51362	CDC40	HP:0010864	Intellectual disability, severe
51362	CDC40	HP:0009879	Simplified gyral pattern
51362	CDC40	HP:0001276	Hypertonia
51362	CDC40	HP:0001274	Agenesis of corpus callosum
51362	CDC40	HP:0001252	Hypotonia
51362	CDC40	HP:0007359	Focal-onset seizure
51362	CDC40	HP:0002510	Spastic tetraplegia
51362	CDC40	HP:0001348	Brisk reflexes
51362	CDC40	HP:0001332	Dystonia
51362	CDC40	HP:0001338	Partial agenesis of the corpus callosum
51362	CDC40	HP:0000007	Autosomal recessive inheritance
51362	CDC40	HP:0001321	Cerebellar hypoplasia
51362	CDC40	HP:0002069	Bilateral tonic-clonic seizure
51362	CDC40	HP:0002188	Delayed CNS myelination
51362	CDC40	HP:0002194	Delayed gross motor development
51362	CDC40	HP:0003577	Congenital onset
51362	CDC40	HP:0002365	Hypoplasia of the brainstem
51362	CDC40	HP:0001903	Anemia
51362	CDC40	HP:0000238	Hydrocephalus
51362	CDC40	HP:0001522	Death in infancy
51362	CDC40	HP:0032794	Myoclonic seizure
51362	CDC40	HP:0012469	Infantile spasms
51362	CDC40	HP:0012434	Delayed social development
51362	CDC40	HP:0001873	Thrombocytopenia
51364	ZMYND10	HP:0025177	Peribronchovascular interstitial thickening
51364	ZMYND10	HP:0002566	Intestinal malrotation
51364	ZMYND10	HP:0001217	Clubbing
51364	ZMYND10	HP:0000007	Autosomal recessive inheritance
51364	ZMYND10	HP:0002643	Neonatal respiratory distress
51364	ZMYND10	HP:0000119	Abnormality of the genitourinary system
51364	ZMYND10	HP:0032543	Lithoptysis
51364	ZMYND10	HP:0031245	Productive cough
51364	ZMYND10	HP:0002011	Morphological central nervous system abnormality
51364	ZMYND10	HP:0100582	Nasal polyposis
51364	ZMYND10	HP:0002119	Ventriculomegaly
51364	ZMYND10	HP:0002110	Bronchiectasis
51364	ZMYND10	HP:0008222	Female infertility
51364	ZMYND10	HP:0003593	Infantile onset
51364	ZMYND10	HP:0002257	Chronic rhinitis
51364	ZMYND10	HP:0002205	Recurrent respiratory infections
51364	ZMYND10	HP:0100750	Atelectasis
51364	ZMYND10	HP:0032016	Abnormal sputum
51364	ZMYND10	HP:0011947	Respiratory tract infection
51364	ZMYND10	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
51364	ZMYND10	HP:0010772	Anomalous pulmonary venous return
51364	ZMYND10	HP:0003621	Juvenile onset
51364	ZMYND10	HP:0030680	Abnormality of cardiovascular system morphology
51364	ZMYND10	HP:0000750	Delayed speech and language development
51364	ZMYND10	HP:0011463	Childhood onset
51364	ZMYND10	HP:0000789	Infertility
51364	ZMYND10	HP:0000924	Abnormality of the skeletal system
51364	ZMYND10	HP:0004469	Chronic bronchitis
51364	ZMYND10	HP:0011539	Atrial situs ambiguous
51364	ZMYND10	HP:0011535	Abnormal atrial arrangement
51364	ZMYND10	HP:0030828	Wheezing
51364	ZMYND10	HP:0003251	Male infertility
51364	ZMYND10	HP:0011617	Pulmonary situs ambiguus
51364	ZMYND10	HP:0033036	Decreased nasal nitric oxide
51364	ZMYND10	HP:0025576	Abnormal inferior vena cava morphology
51364	ZMYND10	HP:0012259	Absent inner and outer dynein arms
51364	ZMYND10	HP:0012265	Ciliary dyskinesia
51364	ZMYND10	HP:0012263	Immotile cilia
51364	ZMYND10	HP:0000238	Hydrocephalus
51364	ZMYND10	HP:0012206	Abnormal sperm motility
51364	ZMYND10	HP:0012207	Reduced sperm motility
51364	ZMYND10	HP:0002878	Respiratory failure
51364	ZMYND10	HP:0012384	Rhinitis
51364	ZMYND10	HP:0000389	Chronic otitis media
51364	ZMYND10	HP:0006536	Airway obstruction
51364	ZMYND10	HP:0001696	Situs inversus totalis
51364	ZMYND10	HP:0000365	Hearing impairment
51364	ZMYND10	HP:0001669	Transposition of the great arteries
51364	ZMYND10	HP:0031456	Ectopic pregnancy
51364	ZMYND10	HP:0001651	Dextrocardia
51364	ZMYND10	HP:0001627	Abnormal heart morphology
51364	ZMYND10	HP:0005301	Persistent left superior vena cava
51364	ZMYND10	HP:0000403	Recurrent otitis media
51364	ZMYND10	HP:0000405	Conductive hearing impairment
51364	ZMYND10	HP:0001719	Double outlet right ventricle
51364	ZMYND10	HP:0011109	Chronic sinusitis
51364	ZMYND10	HP:0011108	Recurrent sinusitis
51364	ZMYND10	HP:0001746	Asplenia
51364	ZMYND10	HP:0001748	Polysplenia
51364	ZMYND10	HP:0001742	Nasal congestion
51364	ZMYND10	HP:0005425	Recurrent sinopulmonary infections
51364	ZMYND10	HP:0011274	Recurrent mycobacterial infections
51364	ZMYND10	HP:0000510	Rod-cone dystrophy
51371	POMP	HP:0001156	Brachydactyly
51371	POMP	HP:0410243	Abnormal circulating IgM level
51371	POMP	HP:0001250	Seizure
51371	POMP	HP:0010976	B lymphocytopenia
51371	POMP	HP:0025379	Anti-thyroid peroxidase antibody positivity
51371	POMP	HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas
51371	POMP	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
51371	POMP	HP:0007465	Honeycomb palmoplantar hyperkeratosis
51371	POMP	HP:0000007	Autosomal recessive inheritance
51371	POMP	HP:0000006	Autosomal dominant inheritance
51371	POMP	HP:0001482	Subcutaneous nodule
51371	POMP	HP:0031234	Neutrophilic infiltration of the skin
51371	POMP	HP:0002718	Recurrent bacterial infections
51371	POMP	HP:0002716	Lymphadenopathy
51371	POMP	HP:0100539	Periorbital edema
51371	POMP	HP:0003493	Antinuclear antibody positivity
51371	POMP	HP:0033221	Increased CD4:CD8 ratio
51371	POMP	HP:0003577	Congenital onset
51371	POMP	HP:0003565	Elevated erythrocyte sedimentation rate
51371	POMP	HP:0008404	Nail dystrophy
51371	POMP	HP:0032069	Anti-thyroglobulin antibody positivity
51371	POMP	HP:0001036	Parakeratosis
51371	POMP	HP:0009775	Amniotic constriction ring
51371	POMP	HP:0003623	Neonatal onset
51371	POMP	HP:0001945	Fever
51371	POMP	HP:0034156	Anti-beta-2-Glycoprotein I IgG antibody positivity
51371	POMP	HP:0009125	Lipodystrophy
51371	POMP	HP:0004429	Recurrent viral infections
51371	POMP	HP:0003237	Increased circulating IgG level
51371	POMP	HP:0003261	Increased circulating IgA level
51371	POMP	HP:0000988	Skin rash
51371	POMP	HP:0000982	Palmoplantar keratoderma
51371	POMP	HP:0008064	Ichthyosis
51371	POMP	HP:0002829	Arthralgia
51371	POMP	HP:0030084	Clinodactyly
51371	POMP	HP:0025528	Annular cutaneous lesion
51371	POMP	HP:0001508	Failure to thrive
51371	POMP	HP:0001795	Hyperconvex nail
51371	POMP	HP:0011227	Elevated circulating C-reactive protein concentration
51371	POMP	HP:0030374	Decreased proportion of memory B cells
51371	POMP	HP:0001873	Thrombocytopenia
51399	TRAPPC4	HP:0001272	Cerebellar atrophy
51399	TRAPPC4	HP:0001285	Spastic tetraparesis
51399	TRAPPC4	HP:0001250	Seizure
51399	TRAPPC4	HP:0001263	Global developmental delay
51399	TRAPPC4	HP:0008872	Feeding difficulties in infancy
51399	TRAPPC4	HP:0000007	Autosomal recessive inheritance
51399	TRAPPC4	HP:0002650	Scoliosis
51399	TRAPPC4	HP:0002187	Intellectual disability, profound
51399	TRAPPC4	HP:0003623	Neonatal onset
51399	TRAPPC4	HP:0000252	Microcephaly
51399	TRAPPC4	HP:0000341	Narrow forehead
51399	TRAPPC4	HP:0000343	Long philtrum
51399	TRAPPC4	HP:0000407	Sensorineural hearing impairment
51399	TRAPPC4	HP:0012444	Brain atrophy
51412	ACTL6B	HP:0010864	Intellectual disability, severe
51412	ACTL6B	HP:0009882	Short distal phalanx of finger
51412	ACTL6B	HP:0002421	Poor head control
51412	ACTL6B	HP:0001298	Encephalopathy
51412	ACTL6B	HP:0001290	Generalized hypotonia
51412	ACTL6B	HP:0001272	Cerebellar atrophy
51412	ACTL6B	HP:0001273	Abnormal corpus callosum morphology
51412	ACTL6B	HP:0001268	Mental deterioration
51412	ACTL6B	HP:0001250	Seizure
51412	ACTL6B	HP:0001252	Hypotonia
51412	ACTL6B	HP:0001251	Ataxia
51412	ACTL6B	HP:0001249	Intellectual disability
51412	ACTL6B	HP:0001265	Hyporeflexia
51412	ACTL6B	HP:0001263	Global developmental delay
51412	ACTL6B	HP:0001257	Spasticity
51412	ACTL6B	HP:0002540	Inability to walk
51412	ACTL6B	HP:0002521	Hypsarrhythmia
51412	ACTL6B	HP:0002509	Limb hypertonia
51412	ACTL6B	HP:0003819	Death in childhood
51412	ACTL6B	HP:0008872	Feeding difficulties in infancy
51412	ACTL6B	HP:0001344	Absent speech
51412	ACTL6B	HP:0000007	Autosomal recessive inheritance
51412	ACTL6B	HP:0001337	Tremor
51412	ACTL6B	HP:0000006	Autosomal dominant inheritance
51412	ACTL6B	HP:0001336	Myoclonus
51412	ACTL6B	HP:0001315	Reduced tendon reflexes
51412	ACTL6B	HP:0000154	Wide mouth
51412	ACTL6B	HP:0008936	Axial hypotonia
51412	ACTL6B	HP:0002020	Gastroesophageal reflux
51412	ACTL6B	HP:0002069	Bilateral tonic-clonic seizure
51412	ACTL6B	HP:0002063	Rigidity
51412	ACTL6B	HP:0002061	Lower limb spasticity
51412	ACTL6B	HP:0002079	Hypoplasia of the corpus callosum
51412	ACTL6B	HP:0002059	Cerebral atrophy
51412	ACTL6B	HP:0002136	Broad-based gait
51412	ACTL6B	HP:0002133	Status epilepticus
51412	ACTL6B	HP:0002188	Delayed CNS myelination
51412	ACTL6B	HP:0003593	Infantile onset
51412	ACTL6B	HP:0100710	Impulsivity
51412	ACTL6B	HP:0002283	Global brain atrophy
51412	ACTL6B	HP:0007018	Attention deficit hyperactivity disorder
51412	ACTL6B	HP:0011968	Feeding difficulties
51412	ACTL6B	HP:0002376	Developmental regression
51412	ACTL6B	HP:0002355	Difficulty walking
51412	ACTL6B	HP:0002317	Unsteady gait
51412	ACTL6B	HP:0010841	Multifocal epileptiform discharges
51412	ACTL6B	HP:0010844	EEG with multifocal slow activity
51412	ACTL6B	HP:0100660	Dyskinesia
51412	ACTL6B	HP:0000639	Nystagmus
51412	ACTL6B	HP:0000648	Optic atrophy
51412	ACTL6B	HP:0000699	Diastema
51412	ACTL6B	HP:0011344	Severe global developmental delay
51412	ACTL6B	HP:0000668	Hypodontia
51412	ACTL6B	HP:0004322	Short stature
51412	ACTL6B	HP:0006986	Upper limb spasticity
51412	ACTL6B	HP:0004305	Involuntary movements
51412	ACTL6B	HP:0000750	Delayed speech and language development
51412	ACTL6B	HP:0000717	Autism
51412	ACTL6B	HP:0000729	Autistic behavior
51412	ACTL6B	HP:0000708	Atypical behavior
51412	ACTL6B	HP:0011443	Abnormality of coordination
51412	ACTL6B	HP:0030891	Periventricular white matter hyperintensities
51412	ACTL6B	HP:0000252	Microcephaly
51412	ACTL6B	HP:0001558	Decreased fetal movement
51412	ACTL6B	HP:0001508	Failure to thrive
51412	ACTL6B	HP:0000337	Broad forehead
51412	ACTL6B	HP:0000348	High forehead
51412	ACTL6B	HP:0000316	Hypertelorism
51412	ACTL6B	HP:0012469	Infantile spasms
51412	ACTL6B	HP:0000494	Downslanted palpebral fissures
51412	ACTL6B	HP:0001792	Small nail
51412	ACTL6B	HP:0012444	Brain atrophy
51412	ACTL6B	HP:0012447	Abnormal myelination
51412	ACTL6B	HP:0000414	Bulbous nose
51412	ACTL6B	HP:0000508	Ptosis
51412	ACTL6B	HP:0000504	Abnormality of vision
51412	ACTL6B	HP:0012547	Abnormal involuntary eye movements
51412	ACTL6B	HP:0011220	Prominent forehead
51412	ACTL6B	HP:0000546	Retinal degeneration
51422	PRKAG2	HP:0033568	Left axis deviation
51422	PRKAG2	HP:0010872	T-wave inversion
51422	PRKAG2	HP:0010851	EEG with burst suppression
51422	PRKAG2	HP:0001279	Syncope
51422	PRKAG2	HP:0001250	Seizure
51422	PRKAG2	HP:0012050	Anasarca
51422	PRKAG2	HP:0000006	Autosomal dominant inheritance
51422	PRKAG2	HP:0002615	Hypotension
51422	PRKAG2	HP:0000158	Macroglossia
51422	PRKAG2	HP:0000105	Enlarged kidney
51422	PRKAG2	HP:0002098	Respiratory distress
51422	PRKAG2	HP:0011713	Left bundle branch block
51422	PRKAG2	HP:0100598	Pulmonary edema
51422	PRKAG2	HP:0004757	Paroxysmal atrial fibrillation
51422	PRKAG2	HP:0002104	Apnea
51422	PRKAG2	HP:0004749	Atrial flutter
51422	PRKAG2	HP:0034532	Increased myocardial glycogen content
51422	PRKAG2	HP:0003577	Congenital onset
51422	PRKAG2	HP:0002202	Pleural effusion
51422	PRKAG2	HP:0200128	Biventricular hypertrophy
51422	PRKAG2	HP:0100749	Chest pain
51422	PRKAG2	HP:0011968	Feeding difficulties
51422	PRKAG2	HP:0003621	Juvenile onset
51422	PRKAG2	HP:0001962	Palpitations
51422	PRKAG2	HP:0001998	Neonatal hypoglycemia
51422	PRKAG2	HP:0004309	Ventricular preexcitation
51422	PRKAG2	HP:0034197	Third trimester onset
51422	PRKAG2	HP:0011463	Childhood onset
51422	PRKAG2	HP:0011462	Young adult onset
51422	PRKAG2	HP:0003198	Myopathy
51422	PRKAG2	HP:0000961	Cyanosis
51422	PRKAG2	HP:0012250	ST segment depression
51422	PRKAG2	HP:0012251	ST segment elevation
51422	PRKAG2	HP:0005110	Atrial fibrillation
51422	PRKAG2	HP:0000238	Hydrocephalus
51422	PRKAG2	HP:0031318	Myofiber disarray
51422	PRKAG2	HP:0001541	Ascites
51422	PRKAG2	HP:0012398	Peripheral edema
51422	PRKAG2	HP:0005165	Shortened PR interval
51422	PRKAG2	HP:0001688	Sinus bradycardia
51422	PRKAG2	HP:0001698	Pericardial effusion
51422	PRKAG2	HP:0001670	Asymmetric septal hypertrophy
51422	PRKAG2	HP:0001678	Atrioventricular block
51422	PRKAG2	HP:0001645	Sudden cardiac death
51422	PRKAG2	HP:0001663	Ventricular fibrillation
51422	PRKAG2	HP:0001662	Bradycardia
51422	PRKAG2	HP:0001623	Breech presentation
51422	PRKAG2	HP:0001640	Cardiomegaly
51422	PRKAG2	HP:0001639	Hypertrophic cardiomyopathy
51422	PRKAG2	HP:0001635	Congestive heart failure
51422	PRKAG2	HP:0001638	Cardiomyopathy
51422	PRKAG2	HP:0031628	Aborted sudden cardiac death
51422	PRKAG2	HP:0006684	Ventricular preexcitation with multiple accessory pathways
51422	PRKAG2	HP:0006677	Prolonged QRS complex
51422	PRKAG2	HP:0001716	Wolff-Parkinson-White syndrome
51422	PRKAG2	HP:0000518	Cataract
51428	DDX41	HP:0003829	Typified by incomplete penetrance
51428	DDX41	HP:0002665	Lymphoma
51428	DDX41	HP:0000006	Autosomal dominant inheritance
51428	DDX41	HP:0002725	Systemic lupus erythematosus
51428	DDX41	HP:0002099	Asthma
51428	DDX41	HP:0003581	Adult onset
51428	DDX41	HP:0004808	Acute myeloid leukemia
51428	DDX41	HP:0005528	Bone marrow hypocellularity
51428	DDX41	HP:0005505	Refractory anemia
51428	DDX41	HP:0000964	Eczema
51428	DDX41	HP:0002863	Myelodysplasia
51428	DDX41	HP:0012311	Monocytosis
51428	DDX41	HP:0031688	Erythroid dysplasia
51428	DDX41	HP:0001882	Leukopenia
51434	ANAPC7	HP:0001270	Motor delay
51434	ANAPC7	HP:0001252	Hypotonia
51434	ANAPC7	HP:0001263	Global developmental delay
51434	ANAPC7	HP:0000007	Autosomal recessive inheritance
51434	ANAPC7	HP:0007687	Unilateral ptosis
51434	ANAPC7	HP:0008209	Premature ovarian insufficiency
51434	ANAPC7	HP:0003593	Infantile onset
51434	ANAPC7	HP:0000767	Pectus excavatum
51434	ANAPC7	HP:0000776	Congenital diaphragmatic hernia
51434	ANAPC7	HP:0000218	High palate
51434	ANAPC7	HP:0025516	Coronary-pulmonary artery fistula
51434	ANAPC7	HP:0000365	Hearing impairment
51434	ANAPC7	HP:0000347	Micrognathia
51434	ANAPC7	HP:0000316	Hypertelorism
51434	ANAPC7	HP:0001655	Patent foramen ovale
51434	ANAPC7	HP:0000402	Stenosis of the external auditory canal
51434	ANAPC7	HP:0000486	Strabismus
51473	DCDC2	HP:0003774	Stage 5 chronic kidney disease
51473	DCDC2	HP:0001256	Intellectual disability, mild
51473	DCDC2	HP:0002506	Diffuse cerebral atrophy
51473	DCDC2	HP:0002500	Abnormal cerebral white matter morphology
51473	DCDC2	HP:0000089	Renal hypoplasia
51473	DCDC2	HP:0000090	Nephronophthisis
51473	DCDC2	HP:0001396	Cholestasis
51473	DCDC2	HP:0001399	Hepatic failure
51473	DCDC2	HP:0001395	Hepatic fibrosis
51473	DCDC2	HP:0001394	Cirrhosis
51473	DCDC2	HP:0000076	Vesicoureteral reflux
51473	DCDC2	HP:0000007	Autosomal recessive inheritance
51473	DCDC2	HP:0002612	Congenital hepatic fibrosis
51473	DCDC2	HP:0002613	Biliary cirrhosis
51473	DCDC2	HP:0012163	Carotid artery dilatation
51473	DCDC2	HP:0032622	Tubular luminal dilatation
51473	DCDC2	HP:0000108	Renal corticomedullary cysts
51473	DCDC2	HP:0001433	Hepatosplenomegaly
51473	DCDC2	HP:0001409	Portal hypertension
51473	DCDC2	HP:0001408	Bile duct proliferation
51473	DCDC2	HP:0032581	Abnormal renal insterstitial morphology
51473	DCDC2	HP:0030991	Sclerosing cholangitis
51473	DCDC2	HP:0030948	Elevated gamma-glutamyltransferase level
51473	DCDC2	HP:0002040	Esophageal varix
51473	DCDC2	HP:0004719	Hyperechogenic kidneys
51473	DCDC2	HP:0003593	Infantile onset
51473	DCDC2	HP:0003577	Congenital onset
51473	DCDC2	HP:0003573	Increased total bilirubin
51473	DCDC2	HP:0002240	Hepatomegaly
51473	DCDC2	HP:0011985	Acholic stools
51473	DCDC2	HP:0007018	Attention deficit hyperactivity disorder
51473	DCDC2	HP:0003676	Progressive
51473	DCDC2	HP:0020132	Thickening of the tubular basement membrane
51473	DCDC2	HP:0003623	Neonatal onset
51473	DCDC2	HP:0005565	Reduced renal corticomedullary differentiation
51473	DCDC2	HP:0012622	Chronic kidney disease
51473	DCDC2	HP:0001959	Polydipsia
51473	DCDC2	HP:0001903	Anemia
51473	DCDC2	HP:0000718	Aggressive behavior
51473	DCDC2	HP:0000713	Agitation
51473	DCDC2	HP:0034294	Ductal bile plugs
51473	DCDC2	HP:0003155	Elevated circulating alkaline phosphatase concentration
51473	DCDC2	HP:0012852	Hepatic bridging fibrosis
51473	DCDC2	HP:0000822	Hypertension
51473	DCDC2	HP:0000989	Pruritus
51473	DCDC2	HP:0000952	Jaundice
51473	DCDC2	HP:0001541	Ascites
51473	DCDC2	HP:0006580	Portal fibrosis
51473	DCDC2	HP:0006571	Reduced number of intrahepatic bile ducts
51473	DCDC2	HP:0006563	Malformation of the hepatic ductal plate
51473	DCDC2	HP:0002910	Elevated hepatic transaminase
51473	DCDC2	HP:0000365	Hearing impairment
51473	DCDC2	HP:0032948	Renal interstitial fibrosis
51473	DCDC2	HP:0000407	Sensorineural hearing impairment
51473	DCDC2	HP:0031589	Suicidal ideation
51473	DCDC2	HP:0001744	Splenomegaly
51473	DCDC2	HP:0012591	Abnormal urinary electrolyte concentration
51473	DCDC2	HP:0012585	Renal atrophy
51475	CABP2	HP:0000007	Autosomal recessive inheritance
51475	CABP2	HP:0003577	Congenital onset
51475	CABP2	HP:0000365	Hearing impairment
51479	ANKFY1	HP:0003774	Stage 5 chronic kidney disease
51479	ANKFY1	HP:0002586	Peritonitis
51479	ANKFY1	HP:0000097	Focal segmental glomerulosclerosis
51479	ANKFY1	HP:0000093	Proteinuria
51479	ANKFY1	HP:0002027	Abdominal pain
51479	ANKFY1	HP:0100539	Periorbital edema
51479	ANKFY1	HP:0011947	Respiratory tract infection
51479	ANKFY1	HP:0002315	Headache
51479	ANKFY1	HP:0012622	Chronic kidney disease
51479	ANKFY1	HP:0001967	Diffuse mesangial sclerosis
51479	ANKFY1	HP:0001945	Fever
51479	ANKFY1	HP:0003073	Hypoalbuminemia
51479	ANKFY1	HP:0000737	Irritability
51479	ANKFY1	HP:0000707	Abnormality of the nervous system
51479	ANKFY1	HP:0000969	Edema
51479	ANKFY1	HP:0031504	Foamy urine
51479	ANKFY1	HP:0012579	Minimal change glomerulonephritis
51501	HIKESHI	HP:0002415	Leukodystrophy
51501	HIKESHI	HP:0001276	Hypertonia
51501	HIKESHI	HP:0001251	Ataxia
51501	HIKESHI	HP:0001263	Global developmental delay
51501	HIKESHI	HP:0001257	Spasticity
51501	HIKESHI	HP:0002518	Abnormal periventricular white matter morphology
51501	HIKESHI	HP:0001347	Hyperreflexia
51501	HIKESHI	HP:0001344	Absent speech
51501	HIKESHI	HP:0000007	Autosomal recessive inheritance
51501	HIKESHI	HP:0008936	Axial hypotonia
51501	HIKESHI	HP:0002013	Vomiting
51501	HIKESHI	HP:0002061	Lower limb spasticity
51501	HIKESHI	HP:0002188	Delayed CNS myelination
51501	HIKESHI	HP:0002169	Clonus
51501	HIKESHI	HP:0002267	Exaggerated startle response
51501	HIKESHI	HP:0003593	Infantile onset
51501	HIKESHI	HP:0011968	Feeding difficulties
51501	HIKESHI	HP:0000639	Nystagmus
51501	HIKESHI	HP:0000648	Optic atrophy
51501	HIKESHI	HP:0000737	Irritability
51501	HIKESHI	HP:0004466	Prolonged brainstem auditory evoked potentials
51501	HIKESHI	HP:0034392	Joint contracture
51501	HIKESHI	HP:0001508	Failure to thrive
51501	HIKESHI	HP:0005484	Secondary microcephaly
51501	HIKESHI	HP:0000505	Visual impairment
51506	UFC1	HP:0007325	Generalized dystonia
51506	UFC1	HP:0008551	Microtia
51506	UFC1	HP:0002421	Poor head control
51506	UFC1	HP:0001250	Seizure
51506	UFC1	HP:0001251	Ataxia
51506	UFC1	HP:0001249	Intellectual disability
51506	UFC1	HP:0001263	Global developmental delay
51506	UFC1	HP:0001257	Spasticity
51506	UFC1	HP:0002521	Hypsarrhythmia
51506	UFC1	HP:0002509	Limb hypertonia
51506	UFC1	HP:0000076	Vesicoureteral reflux
51506	UFC1	HP:0001347	Hyperreflexia
51506	UFC1	HP:0001344	Absent speech
51506	UFC1	HP:0000007	Autosomal recessive inheritance
51506	UFC1	HP:0001336	Myoclonus
51506	UFC1	HP:0002650	Scoliosis
51506	UFC1	HP:0001321	Cerebellar hypoplasia
51506	UFC1	HP:0000160	Narrow mouth
51506	UFC1	HP:0008936	Axial hypotonia
51506	UFC1	HP:0002705	High, narrow palate
51506	UFC1	HP:0002020	Gastroesophageal reflux
51506	UFC1	HP:0002013	Vomiting
51506	UFC1	HP:0011800	Midface retrusion
51506	UFC1	HP:0002080	Intention tremor
51506	UFC1	HP:0003487	Babinski sign
51506	UFC1	HP:0002188	Delayed CNS myelination
51506	UFC1	HP:0002169	Clonus
51506	UFC1	HP:0002179	Opisthotonus
51506	UFC1	HP:0003593	Infantile onset
51506	UFC1	HP:0002205	Recurrent respiratory infections
51506	UFC1	HP:0009748	Large earlobe
51506	UFC1	HP:0010665	Bilateral coxa valga
51506	UFC1	HP:0011968	Feeding difficulties
51506	UFC1	HP:0002395	Lower limb hyperreflexia
51506	UFC1	HP:0001007	Hirsutism
51506	UFC1	HP:0010804	Tented upper lip vermilion
51506	UFC1	HP:0000646	Amblyopia
51506	UFC1	HP:0000657	Oculomotor apraxia
51506	UFC1	HP:0000664	Synophrys
51506	UFC1	HP:0004322	Short stature
51506	UFC1	HP:0000737	Irritability
51506	UFC1	HP:0034295	Reduced cerebral white matter volume
51506	UFC1	HP:0000954	Single transverse palmar crease
51506	UFC1	HP:0000286	Epicanthus
51506	UFC1	HP:0025586	Hypertropia
51506	UFC1	HP:0000298	Mask-like facies
51506	UFC1	HP:0000293	Full cheeks
51506	UFC1	HP:0006380	Knee flexion contracture
51506	UFC1	HP:0001508	Failure to thrive
51506	UFC1	HP:0001510	Growth delay
51506	UFC1	HP:0001601	Laryngomalacia
51506	UFC1	HP:0000369	Low-set ears
51506	UFC1	HP:0000340	Sloping forehead
51506	UFC1	HP:0032794	Myoclonic seizure
51506	UFC1	HP:0000316	Hypertelorism
51506	UFC1	HP:0001643	Patent ductus arteriosus
51506	UFC1	HP:0001655	Patent foramen ovale
51506	UFC1	HP:0012469	Infantile spasms
51506	UFC1	HP:0000496	Abnormality of eye movement
51506	UFC1	HP:0000463	Anteverted nares
51506	UFC1	HP:0012450	Chronic constipation
51506	UFC1	HP:0001771	Achilles tendon contracture
51506	UFC1	HP:0000448	Prominent nose
51506	UFC1	HP:0005484	Secondary microcephaly
51506	UFC1	HP:0005469	Flat occiput
51506	UFC1	HP:0000527	Long eyelashes
51506	UFC1	HP:0001803	Nail pits
51506	UFC1	HP:0000565	Esotropia
51506	UFC1	HP:0000540	Hypermetropia
51520	LARS1	HP:0001290	Generalized hypotonia
51520	LARS1	HP:0100807	Long fingers
51520	LARS1	HP:0001250	Seizure
51520	LARS1	HP:0001252	Hypotonia
51520	LARS1	HP:0001263	Global developmental delay
51520	LARS1	HP:0001397	Hepatic steatosis
51520	LARS1	HP:0000007	Autosomal recessive inheritance
51520	LARS1	HP:0002007	Frontal bossing
51520	LARS1	HP:0002194	Delayed gross motor development
51520	LARS1	HP:0010511	Long toe
51520	LARS1	HP:0002240	Hepatomegaly
51520	LARS1	HP:0001972	Macrocytic anemia
51520	LARS1	HP:0001903	Anemia
51520	LARS1	HP:0003128	Lactic acidosis
51520	LARS1	HP:0003256	Abnormality of the coagulation cascade
51520	LARS1	HP:0000293	Full cheeks
51520	LARS1	HP:0000252	Microcephaly
51520	LARS1	HP:0001508	Failure to thrive
51520	LARS1	HP:0006554	Acute hepatic failure
51520	LARS1	HP:0002910	Elevated hepatic transaminase
51520	LARS1	HP:0000407	Sensorineural hearing impairment
51524	TMEM138	HP:0001161	Hand polydactyly
51524	TMEM138	HP:0002419	Molar tooth sign on MRI
51524	TMEM138	HP:0001250	Seizure
51524	TMEM138	HP:0001252	Hypotonia
51524	TMEM138	HP:0001251	Ataxia
51524	TMEM138	HP:0001249	Intellectual disability
51524	TMEM138	HP:0001263	Global developmental delay
51524	TMEM138	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
51524	TMEM138	HP:0002553	Highly arched eyebrow
51524	TMEM138	HP:0000083	Renal insufficiency
51524	TMEM138	HP:0000090	Nephronophthisis
51524	TMEM138	HP:0000007	Autosomal recessive inheritance
51524	TMEM138	HP:0001305	Dandy-Walker malformation
51524	TMEM138	HP:0001320	Cerebellar vermis hypoplasia
51524	TMEM138	HP:0002650	Scoliosis
51524	TMEM138	HP:0002789	Tachypnea
51524	TMEM138	HP:0000112	Nephropathy
51524	TMEM138	HP:0000107	Renal cyst
51524	TMEM138	HP:0002084	Encephalocele
51524	TMEM138	HP:0010442	Polydactyly
51524	TMEM138	HP:0002104	Apnea
51524	TMEM138	HP:0002269	Abnormality of neuronal migration
51524	TMEM138	HP:0002251	Aganglionic megacolon
51524	TMEM138	HP:0000639	Nystagmus
51524	TMEM138	HP:0000618	Blindness
51524	TMEM138	HP:0000612	Iris coloboma
51524	TMEM138	HP:0000657	Oculomotor apraxia
51524	TMEM138	HP:0030680	Abnormality of cardiovascular system morphology
51524	TMEM138	HP:0000729	Autistic behavior
51524	TMEM138	HP:0000708	Atypical behavior
51524	TMEM138	HP:0004422	Biparietal narrowing
51524	TMEM138	HP:0000864	Abnormality of the hypothalamus-pituitary axis
51524	TMEM138	HP:0000276	Long face
51524	TMEM138	HP:0000238	Hydrocephalus
51524	TMEM138	HP:0000368	Low-set, posteriorly rotated ears
51524	TMEM138	HP:0000316	Hypertelorism
51524	TMEM138	HP:0000486	Strabismus
51524	TMEM138	HP:0000463	Anteverted nares
51524	TMEM138	HP:0000426	Prominent nasal bridge
51524	TMEM138	HP:0001829	Foot polydactyly
51524	TMEM138	HP:0000508	Ptosis
51524	TMEM138	HP:0000505	Visual impairment
51524	TMEM138	HP:0000589	Coloboma
51524	TMEM138	HP:0000556	Retinal dystrophy
51524	TMEM138	HP:0000567	Chorioretinal coloboma
51567	TDP2	HP:0001290	Generalized hypotonia
51567	TDP2	HP:0001250	Seizure
51567	TDP2	HP:0001251	Ataxia
51567	TDP2	HP:0001249	Intellectual disability
51567	TDP2	HP:0000007	Autosomal recessive inheritance
51567	TDP2	HP:0003388	Easy fatigability
51567	TDP2	HP:0100786	Hypersomnia
51567	TDP2	HP:0001999	Abnormal facial shape
51567	TDP2	HP:0011675	Arrhythmia
51567	TDP2	HP:0000252	Microcephaly
51567	TDP2	HP:0000248	Brachycephaly
51567	TDP2	HP:0002902	Hyponatremia
51567	TDP2	HP:0001875	Neutropenia
51569	UFM1	HP:0001290	Generalized hypotonia
51569	UFM1	HP:0001272	Cerebellar atrophy
51569	UFM1	HP:0001250	Seizure
51569	UFM1	HP:0001249	Intellectual disability
51569	UFM1	HP:0001257	Spasticity
51569	UFM1	HP:0001332	Dystonia
51569	UFM1	HP:0001344	Absent speech
51569	UFM1	HP:0000007	Autosomal recessive inheritance
51569	UFM1	HP:0002093	Respiratory insufficiency
51569	UFM1	HP:0002059	Cerebral atrophy
51569	UFM1	HP:0011968	Feeding difficulties
51569	UFM1	HP:0000618	Blindness
51569	UFM1	HP:0000252	Microcephaly
51569	UFM1	HP:0001510	Growth delay
51569	UFM1	HP:0000365	Hearing impairment
51574	LARP7	HP:0010864	Intellectual disability, severe
51574	LARP7	HP:0001250	Seizure
51574	LARP7	HP:0001263	Global developmental delay
51574	LARP7	HP:0008897	Postnatal growth retardation
51574	LARP7	HP:0000007	Autosomal recessive inheritance
51574	LARP7	HP:0002650	Scoliosis
51574	LARP7	HP:0012171	Stereotypical hand wringing
51574	LARP7	HP:0000154	Wide mouth
51574	LARP7	HP:0010535	Sleep apnea
51574	LARP7	HP:0100738	Abnormal eating behavior
51574	LARP7	HP:0003510	Severe short stature
51574	LARP7	HP:0002360	Sleep disturbance
51574	LARP7	HP:0001072	Thickened skin
51574	LARP7	HP:0000687	Widely spaced teeth
51574	LARP7	HP:0012646	Retractile testis
51574	LARP7	HP:0004325	Decreased body weight
51574	LARP7	HP:0012745	Short palpebral fissure
51574	LARP7	HP:0000739	Anxiety
51574	LARP7	HP:0000733	Abnormal repetitive mannerisms
51574	LARP7	HP:0000742	Self-mutilation
51574	LARP7	HP:0003100	Slender long bone
51574	LARP7	HP:0045075	Sparse eyebrow
51574	LARP7	HP:0000965	Cutis marmorata
51574	LARP7	HP:0045025	Narrow palpebral fissure
51574	LARP7	HP:0040196	Mild microcephaly
51574	LARP7	HP:0000272	Malar flattening
51574	LARP7	HP:0000252	Microcephaly
51574	LARP7	HP:0000369	Low-set ears
51574	LARP7	HP:0000315	Abnormality of the orbital region
51574	LARP7	HP:0000322	Short philtrum
51574	LARP7	HP:0000325	Triangular face
51574	LARP7	HP:0001631	Atrial septal defect
51574	LARP7	HP:0005280	Depressed nasal bridge
51574	LARP7	HP:0000486	Strabismus
51574	LARP7	HP:0012471	Thick vermilion border
51574	LARP7	HP:0000490	Deeply set eye
51574	LARP7	HP:0000445	Wide nose
51574	LARP7	HP:0000431	Wide nasal bridge
51574	LARP7	HP:0011220	Prominent forehead
51594	NBAS	HP:0001156	Brachydactyly
51594	NBAS	HP:0002480	Hepatic encephalopathy
51594	NBAS	HP:0001159	Syndactyly
51594	NBAS	HP:0001254	Lethargy
51594	NBAS	HP:0001250	Seizure
51594	NBAS	HP:0001252	Hypotonia
51594	NBAS	HP:0008897	Postnatal growth retardation
51594	NBAS	HP:0000007	Autosomal recessive inheritance
51594	NBAS	HP:0007663	Reduced visual acuity
51594	NBAS	HP:0002750	Delayed skeletal maturation
51594	NBAS	HP:0002013	Vomiting
51594	NBAS	HP:0002057	Prominent glabella
51594	NBAS	HP:0008151	Prolonged prothrombin time
51594	NBAS	HP:0003593	Infantile onset
51594	NBAS	HP:0002213	Fine hair
51594	NBAS	HP:0010669	Hypoplasia of the zygomatic bone
51594	NBAS	HP:0200068	Nonprogressive visual loss
51594	NBAS	HP:0000648	Optic atrophy
51594	NBAS	HP:0001943	Hypoglycemia
51594	NBAS	HP:0010055	Broad hallux
51594	NBAS	HP:0001987	Hyperammonemia
51594	NBAS	HP:0004322	Short stature
51594	NBAS	HP:0011447	Hyposegmentation of neutrophil nuclei
51594	NBAS	HP:0011516	Achromatopsia
51594	NBAS	HP:0000973	Cutis laxa
51594	NBAS	HP:0000954	Single transverse palmar crease
51594	NBAS	HP:0000952	Jaundice
51594	NBAS	HP:0000286	Epicanthus
51594	NBAS	HP:0000276	Long face
51594	NBAS	HP:0000248	Brachycephaly
51594	NBAS	HP:0000233	Thin vermilion border
51594	NBAS	HP:0006554	Acute hepatic failure
51594	NBAS	HP:0002910	Elevated hepatic transaminase
51594	NBAS	HP:0000341	Narrow forehead
51594	NBAS	HP:0000343	Long philtrum
51594	NBAS	HP:0002983	Micromelia
51594	NBAS	HP:0000316	Hypertelorism
51594	NBAS	HP:0000324	Facial asymmetry
51594	NBAS	HP:0001620	High pitched voice
51594	NBAS	HP:0001638	Cardiomyopathy
51594	NBAS	HP:0000486	Strabismus
51594	NBAS	HP:0000470	Short neck
51594	NBAS	HP:0001852	Sandal gap
51594	NBAS	HP:0000520	Proptosis
51594	NBAS	HP:0000574	Thick eyebrow
51594	NBAS	HP:0000540	Hypermetropia
51594	NBAS	HP:0000545	Myopia
51601	LIPT1	HP:0002490	Increased CSF lactate
51601	LIPT1	HP:0010864	Intellectual disability, severe
51601	LIPT1	HP:0002415	Leukodystrophy
51601	LIPT1	HP:0001272	Cerebellar atrophy
51601	LIPT1	HP:0001285	Spastic tetraparesis
51601	LIPT1	HP:0001250	Seizure
51601	LIPT1	HP:0001252	Hypotonia
51601	LIPT1	HP:0001260	Dysarthria
51601	LIPT1	HP:0001263	Global developmental delay
51601	LIPT1	HP:0001257	Spasticity
51601	LIPT1	HP:0002500	Abnormal cerebral white matter morphology
51601	LIPT1	HP:0025376	Hyperglutaminuria
51601	LIPT1	HP:0001347	Hyperreflexia
51601	LIPT1	HP:0001332	Dystonia
51601	LIPT1	HP:0000007	Autosomal recessive inheritance
51601	LIPT1	HP:0008972	Decreased activity of mitochondrial respiratory chain
51601	LIPT1	HP:0008936	Axial hypotonia
51601	LIPT1	HP:0001410	Decreased liver function
51601	LIPT1	HP:0002092	Pulmonary arterial hypertension
51601	LIPT1	HP:0002073	Progressive cerebellar ataxia
51601	LIPT1	HP:0002071	Abnormality of extrapyramidal motor function
51601	LIPT1	HP:0002151	Increased serum lactate
51601	LIPT1	HP:0002119	Ventriculomegaly
51601	LIPT1	HP:0002104	Apnea
51601	LIPT1	HP:0002188	Delayed CNS myelination
51601	LIPT1	HP:0003593	Infantile onset
51601	LIPT1	HP:0003573	Increased total bilirubin
51601	LIPT1	HP:0007020	Progressive spastic paraplegia
51601	LIPT1	HP:0008358	Hyperprolinemia
51601	LIPT1	HP:0020078	Alaninuria
51601	LIPT1	HP:0002376	Developmental regression
51601	LIPT1	HP:0003648	Lacticaciduria
51601	LIPT1	HP:0009830	Peripheral neuropathy
51601	LIPT1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
51601	LIPT1	HP:0000639	Nystagmus
51601	LIPT1	HP:0000648	Optic atrophy
51601	LIPT1	HP:0001941	Acidosis
51601	LIPT1	HP:0000602	Ophthalmoplegia
51601	LIPT1	HP:0001903	Anemia
51601	LIPT1	HP:0100022	Abnormality of movement
51601	LIPT1	HP:0000712	Emotional lability
51601	LIPT1	HP:0003128	Lactic acidosis
51601	LIPT1	HP:0003217	Hyperglutaminemia
51601	LIPT1	HP:0000998	Hypertrichosis
51601	LIPT1	HP:0001522	Death in infancy
51601	LIPT1	HP:0001508	Failure to thrive
51601	LIPT1	HP:0002910	Elevated hepatic transaminase
51601	LIPT1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
51601	LIPT1	HP:0000365	Hearing impairment
51601	LIPT1	HP:0001662	Bradycardia
51601	LIPT1	HP:0001629	Ventricular septal defect
51601	LIPT1	HP:0001639	Hypertrophic cardiomyopathy
51601	LIPT1	HP:0000486	Strabismus
51601	LIPT1	HP:0000508	Ptosis
51601	LIPT1	HP:0000580	Pigmentary retinopathy
51604	PIGT	HP:0010864	Intellectual disability, severe
51604	PIGT	HP:0010850	EEG with spike-wave complexes
51604	PIGT	HP:0001290	Generalized hypotonia
51604	PIGT	HP:0001272	Cerebellar atrophy
51604	PIGT	HP:0001250	Seizure
51604	PIGT	HP:0001252	Hypotonia
51604	PIGT	HP:0001251	Ataxia
51604	PIGT	HP:0001249	Intellectual disability
51604	PIGT	HP:0001263	Global developmental delay
51604	PIGT	HP:0008676	Congenital megaureter
51604	PIGT	HP:0000079	Abnormality of the urinary system
51604	PIGT	HP:0000072	Hydroureter
51604	PIGT	HP:0000071	Ureteral stenosis
51604	PIGT	HP:0025330	Downgaze palsy
51604	PIGT	HP:0001382	Joint hypermobility
51604	PIGT	HP:0001363	Craniosynostosis
51604	PIGT	HP:0000007	Autosomal recessive inheritance
51604	PIGT	HP:0000006	Autosomal dominant inheritance
51604	PIGT	HP:0002650	Scoliosis
51604	PIGT	HP:0001321	Cerebellar hypoplasia
51604	PIGT	HP:0000194	Open mouth
51604	PIGT	HP:0000164	Abnormality of the dentition
51604	PIGT	HP:0002705	High, narrow palate
51604	PIGT	HP:0000121	Nephrocalcinosis
51604	PIGT	HP:0001428	Somatic mutation
51604	PIGT	HP:0000110	Renal dysplasia
51604	PIGT	HP:0000107	Renal cyst
51604	PIGT	HP:0002750	Delayed skeletal maturation
51604	PIGT	HP:0002714	Downturned corners of mouth
51604	PIGT	HP:0002720	Decreased circulating IgA level
51604	PIGT	HP:0002020	Gastroesophageal reflux
51604	PIGT	HP:0002027	Abdominal pain
51604	PIGT	HP:0002002	Deep philtrum
51604	PIGT	HP:0002014	Diarrhea
51604	PIGT	HP:0002094	Dyspnea
51604	PIGT	HP:0002069	Bilateral tonic-clonic seizure
51604	PIGT	HP:0002059	Cerebral atrophy
51604	PIGT	HP:0002155	Hypertriglyceridemia
51604	PIGT	HP:0003487	Babinski sign
51604	PIGT	HP:0002150	Hypercalciuria
51604	PIGT	HP:0002123	Generalized myoclonic seizure
51604	PIGT	HP:0002121	Generalized non-motor (absence) seizure
51604	PIGT	HP:0002101	Abnormal lung lobation
51604	PIGT	HP:0010536	Central sleep apnea
51604	PIGT	HP:0011842	Abnormal skeletal morphology
51604	PIGT	HP:0002263	Exaggerated cupid's bow
51604	PIGT	HP:0003593	Infantile onset
51604	PIGT	HP:0003577	Congenital onset
51604	PIGT	HP:0100704	Cerebral visual impairment
51604	PIGT	HP:0002283	Global brain atrophy
51604	PIGT	HP:0004818	Paroxysmal nocturnal hemoglobinuria
51604	PIGT	HP:0002376	Developmental regression
51604	PIGT	HP:0001025	Urticaria
51604	PIGT	HP:0002315	Headache
51604	PIGT	HP:0010841	Multifocal epileptiform discharges
51604	PIGT	HP:0010818	Generalized tonic seizure
51604	PIGT	HP:0010804	Tented upper lip vermilion
51604	PIGT	HP:0009824	Upper limb undergrowth
51604	PIGT	HP:0000639	Nystagmus
51604	PIGT	HP:0011330	Metopic synostosis
51604	PIGT	HP:0006961	Jerky head movements
51604	PIGT	HP:0003072	Hypercalcemia
51604	PIGT	HP:0003022	Hypoplasia of the ulna
51604	PIGT	HP:0000767	Pectus excavatum
51604	PIGT	HP:0012718	Morphological abnormality of the gastrointestinal tract
51604	PIGT	HP:0011470	Nasogastric tube feeding in infancy
51604	PIGT	HP:0011448	Ankle clonus
51604	PIGT	HP:0004443	Lambdoidal craniosynostosis
51604	PIGT	HP:0003100	Slender long bone
51604	PIGT	HP:0003196	Short nose
51604	PIGT	HP:0003186	Inverted nipples
51604	PIGT	HP:0000829	Hypoparathyroidism
51604	PIGT	HP:0000826	Precocious puberty
51604	PIGT	HP:0030856	Posterior staphyloma
51604	PIGT	HP:0003282	Low alkaline phosphatase
51604	PIGT	HP:0000939	Osteoporosis
51604	PIGT	HP:0000938	Osteopenia
51604	PIGT	HP:0000256	Macrocephaly
51604	PIGT	HP:0000272	Malar flattening
51604	PIGT	HP:0002829	Arthralgia
51604	PIGT	HP:0000248	Brachycephaly
51604	PIGT	HP:0000218	High palate
51604	PIGT	HP:0002870	Obstructive sleep apnea
51604	PIGT	HP:0002850	Decreased circulating total IgM
51604	PIGT	HP:0001520	Large for gestational age
51604	PIGT	HP:0001513	Obesity
51604	PIGT	HP:0012378	Fatigue
51604	PIGT	HP:0012373	Abnormal eye physiology
51604	PIGT	HP:0006480	Premature loss of teeth
51604	PIGT	HP:0000365	Hearing impairment
51604	PIGT	HP:0000369	Low-set ears
51604	PIGT	HP:0000341	Narrow forehead
51604	PIGT	HP:0000343	Long philtrum
51604	PIGT	HP:0000348	High forehead
51604	PIGT	HP:0000347	Micrognathia
51604	PIGT	HP:0032794	Myoclonic seizure
51604	PIGT	HP:0001643	Patent ductus arteriosus
51604	PIGT	HP:0001627	Abnormal heart morphology
51604	PIGT	HP:0001631	Atrial septal defect
51604	PIGT	HP:0011199	EEG with generalized sharp slow waves
51604	PIGT	HP:0001723	Restrictive cardiomyopathy
51604	PIGT	HP:0005280	Depressed nasal bridge
51604	PIGT	HP:0000483	Astigmatism
51604	PIGT	HP:0000486	Strabismus
51604	PIGT	HP:0000496	Abnormality of eye movement
51604	PIGT	HP:0000463	Anteverted nares
51604	PIGT	HP:0000431	Wide nasal bridge
51604	PIGT	HP:0000505	Visual impairment
51604	PIGT	HP:0000582	Upslanted palpebral fissure
51604	PIGT	HP:0000565	Esotropia
51604	PIGT	HP:0000540	Hypermetropia
51604	PIGT	HP:0001878	Hemolytic anemia
51604	PIGT	HP:0000545	Myopia
51611	DPH5	HP:0001182	Tapered finger
51611	DPH5	HP:0001252	Hypotonia
51611	DPH5	HP:0001263	Global developmental delay
51611	DPH5	HP:0002510	Spastic tetraplegia
51611	DPH5	HP:0002509	Limb hypertonia
51611	DPH5	HP:0000020	Urinary incontinence
51611	DPH5	HP:0001344	Absent speech
51611	DPH5	HP:0000006	Autosomal dominant inheritance
51611	DPH5	HP:0001320	Cerebellar vermis hypoplasia
51611	DPH5	HP:0002714	Downturned corners of mouth
51611	DPH5	HP:0002020	Gastroesophageal reflux
51611	DPH5	HP:0011800	Midface retrusion
51611	DPH5	HP:0002069	Bilateral tonic-clonic seizure
51611	DPH5	HP:0002187	Intellectual disability, profound
51611	DPH5	HP:0003577	Congenital onset
51611	DPH5	HP:0002280	Enlarged cisterna magna
51611	DPH5	HP:0011968	Feeding difficulties
51611	DPH5	HP:0002360	Sleep disturbance
51611	DPH5	HP:0004942	Aortic aneurysm
51611	DPH5	HP:0009085	Alveolar ridge overgrowth
51611	DPH5	HP:0000637	Long palpebral fissure
51611	DPH5	HP:0000653	Sparse eyelashes
51611	DPH5	HP:0000670	Carious teeth
51611	DPH5	HP:0004322	Short stature
51611	DPH5	HP:0030674	Antenatal onset
51611	DPH5	HP:0100021	Cerebral palsy
51611	DPH5	HP:0045075	Sparse eyebrow
51611	DPH5	HP:0011625	Multiple muscular ventricular septal defects
51611	DPH5	HP:0034353	Appendicular spasticity
51611	DPH5	HP:0033044	Motor regression
51611	DPH5	HP:0000286	Epicanthus
51611	DPH5	HP:0000218	High palate
51611	DPH5	HP:0001561	Polyhydramnios
51611	DPH5	HP:0001558	Decreased fetal movement
51611	DPH5	HP:0001522	Death in infancy
51611	DPH5	HP:0002870	Obstructive sleep apnea
51611	DPH5	HP:0011003	High myopia
51611	DPH5	HP:0001698	Pericardial effusion
51611	DPH5	HP:0000341	Narrow forehead
51611	DPH5	HP:0000337	Broad forehead
51611	DPH5	HP:0000348	High forehead
51611	DPH5	HP:0000347	Micrognathia
51611	DPH5	HP:0032794	Myoclonic seizure
51611	DPH5	HP:0001631	Atrial septal defect
51611	DPH5	HP:0000490	Deeply set eye
51611	DPH5	HP:0012444	Brain atrophy
51611	DPH5	HP:0001763	Pes planus
51611	DPH5	HP:0000431	Wide nasal bridge
51611	DPH5	HP:0001838	Rocker bottom foot
51611	DPH5	HP:0000582	Upslanted palpebral fissure
51611	DPH5	HP:0011220	Prominent forehead
51621	KLF13	HP:0001156	Brachydactyly
51621	KLF13	HP:0010864	Intellectual disability, severe
51621	KLF13	HP:0001256	Intellectual disability, mild
51621	KLF13	HP:0001250	Seizure
51621	KLF13	HP:0001252	Hypotonia
51621	KLF13	HP:0003829	Typified by incomplete penetrance
51621	KLF13	HP:0001328	Specific learning disability
51621	KLF13	HP:0000006	Autosomal dominant inheritance
51621	KLF13	HP:0002342	Intellectual disability, moderate
51621	KLF13	HP:0004209	Clinodactyly of the 5th finger
51621	KLF13	HP:0001999	Abnormal facial shape
51621	KLF13	HP:0000664	Synophrys
51621	KLF13	HP:0030680	Abnormality of cardiovascular system morphology
51621	KLF13	HP:0008050	Abnormality of the palpebral fissures
51621	KLF13	HP:0000377	Abnormal pinna morphology
51621	KLF13	HP:0000316	Hypertelorism
51621	KLF13	HP:0000486	Strabismus
51626	DYNC2LI1	HP:0002488	Acute leukemia
51626	DYNC2LI1	HP:0001156	Brachydactyly
51626	DYNC2LI1	HP:0001162	Postaxial hand polydactyly
51626	DYNC2LI1	HP:0001161	Hand polydactyly
51626	DYNC2LI1	HP:0009882	Short distal phalanx of finger
51626	DYNC2LI1	HP:0001249	Intellectual disability
51626	DYNC2LI1	HP:0001231	Abnormal fingernail morphology
51626	DYNC2LI1	HP:0001241	Capitate-hamate fusion
51626	DYNC2LI1	HP:0008753	Aplasia of the epiglottis
51626	DYNC2LI1	HP:0008678	Renal hypoplasia/aplasia
51626	DYNC2LI1	HP:0000083	Renal insufficiency
51626	DYNC2LI1	HP:0000085	Horseshoe kidney
51626	DYNC2LI1	HP:0000090	Nephronophthisis
51626	DYNC2LI1	HP:0001392	Abnormality of the liver
51626	DYNC2LI1	HP:0000077	Abnormality of the kidney
51626	DYNC2LI1	HP:0000072	Hydroureter
51626	DYNC2LI1	HP:0000069	Abnormality of the ureter
51626	DYNC2LI1	HP:0000039	Epispadias
51626	DYNC2LI1	HP:0000047	Hypospadias
51626	DYNC2LI1	HP:0000028	Cryptorchidism
51626	DYNC2LI1	HP:0008872	Feeding difficulties in infancy
51626	DYNC2LI1	HP:0000008	Abnormal morphology of female internal genitalia
51626	DYNC2LI1	HP:0000007	Autosomal recessive inheritance
51626	DYNC2LI1	HP:0002652	Skeletal dysplasia
51626	DYNC2LI1	HP:0002644	Abnormal pelvic girdle bone morphology
51626	DYNC2LI1	HP:0008921	Neonatal short-limb short stature
51626	DYNC2LI1	HP:0000190	Abnormal oral frenulum morphology
51626	DYNC2LI1	HP:0000191	Accessory oral frenulum
51626	DYNC2LI1	HP:0000164	Abnormality of the dentition
51626	DYNC2LI1	HP:0000161	Median cleft lip
51626	DYNC2LI1	HP:0000148	Vaginal atresia
51626	DYNC2LI1	HP:0000112	Nephropathy
51626	DYNC2LI1	HP:0002750	Delayed skeletal maturation
51626	DYNC2LI1	HP:0002098	Respiratory distress
51626	DYNC2LI1	HP:0002097	Emphysema
51626	DYNC2LI1	HP:0002093	Respiratory insufficiency
51626	DYNC2LI1	HP:0002164	Nail dysplasia
51626	DYNC2LI1	HP:0010566	Hamartoma
51626	DYNC2LI1	HP:0011830	Abnormal oral mucosa morphology
51626	DYNC2LI1	HP:0010579	Cone-shaped epiphysis
51626	DYNC2LI1	HP:0002240	Hepatomegaly
51626	DYNC2LI1	HP:0005561	Abnormality of bone marrow cell morphology
51626	DYNC2LI1	HP:0011362	Abnormal hair quantity
51626	DYNC2LI1	HP:0000684	Delayed eruption of teeth
51626	DYNC2LI1	HP:0000691	Microdontia
51626	DYNC2LI1	HP:0000668	Hypodontia
51626	DYNC2LI1	HP:0004322	Short stature
51626	DYNC2LI1	HP:0030674	Antenatal onset
51626	DYNC2LI1	HP:0030680	Abnormality of cardiovascular system morphology
51626	DYNC2LI1	HP:0003026	Short long bone
51626	DYNC2LI1	HP:0000772	Abnormal rib morphology
51626	DYNC2LI1	HP:0000766	Abnormal sternum morphology
51626	DYNC2LI1	HP:0011461	Fetal onset
51626	DYNC2LI1	HP:0000774	Narrow chest
51626	DYNC2LI1	HP:0000773	Short ribs
51626	DYNC2LI1	HP:0000924	Abnormality of the skeletal system
51626	DYNC2LI1	HP:0000888	Horizontal ribs
51626	DYNC2LI1	HP:0000889	Abnormal clavicle morphology
51626	DYNC2LI1	HP:0000894	Short clavicles
51626	DYNC2LI1	HP:0100259	Postaxial polydactyly
51626	DYNC2LI1	HP:0010306	Short thorax
51626	DYNC2LI1	HP:0000944	Abnormal metaphysis morphology
51626	DYNC2LI1	HP:0007703	Abnormality of retinal pigmentation
51626	DYNC2LI1	HP:0000286	Epicanthus
51626	DYNC2LI1	HP:0001595	Abnormal hair morphology
51626	DYNC2LI1	HP:0001597	Abnormality of the nail
51626	DYNC2LI1	HP:0005048	Synostosis of carpal bones
51626	DYNC2LI1	HP:0001561	Polyhydramnios
51626	DYNC2LI1	HP:0000233	Thin vermilion border
51626	DYNC2LI1	HP:0030010	Hydrometrocolpos
51626	DYNC2LI1	HP:0002857	Genu valgum
51626	DYNC2LI1	HP:0001508	Failure to thrive
51626	DYNC2LI1	HP:0001511	Intrauterine growth retardation
51626	DYNC2LI1	HP:0011069	Supernumerary tooth
51626	DYNC2LI1	HP:0011065	Conical incisor
51626	DYNC2LI1	HP:0001696	Situs inversus totalis
51626	DYNC2LI1	HP:0000369	Low-set ears
51626	DYNC2LI1	HP:0001680	Coarctation of aorta
51626	DYNC2LI1	HP:0002983	Micromelia
51626	DYNC2LI1	HP:0001651	Dextrocardia
51626	DYNC2LI1	HP:0001643	Patent ductus arteriosus
51626	DYNC2LI1	HP:0001654	Abnormal heart valve morphology
51626	DYNC2LI1	HP:0001629	Ventricular septal defect
51626	DYNC2LI1	HP:0002967	Cubitus valgus
51626	DYNC2LI1	HP:0001631	Atrial septal defect
51626	DYNC2LI1	HP:0006695	Atrioventricular canal defect
51626	DYNC2LI1	HP:0005280	Depressed nasal bridge
51626	DYNC2LI1	HP:0000486	Strabismus
51626	DYNC2LI1	HP:0000494	Downslanted palpebral fissures
51626	DYNC2LI1	HP:0001770	Toe syndactyly
51626	DYNC2LI1	HP:0001773	Short foot
51626	DYNC2LI1	HP:0001744	Splenomegaly
51626	DYNC2LI1	HP:0006703	Aplasia/Hypoplasia of the lungs
51626	DYNC2LI1	HP:0001829	Foot polydactyly
51626	DYNC2LI1	HP:0001830	Postaxial foot polydactyly
51626	DYNC2LI1	HP:0001800	Hypoplastic toenails
51633	OTUD6B	HP:0001187	Hyperextensibility of the finger joints
51633	OTUD6B	HP:0001182	Tapered finger
51633	OTUD6B	HP:0001166	Arachnodactyly
51633	OTUD6B	HP:0010864	Intellectual disability, severe
51633	OTUD6B	HP:0001290	Generalized hypotonia
51633	OTUD6B	HP:0001276	Hypertonia
51633	OTUD6B	HP:0001250	Seizure
51633	OTUD6B	HP:0001251	Ataxia
51633	OTUD6B	HP:0001263	Global developmental delay
51633	OTUD6B	HP:0001257	Spasticity
51633	OTUD6B	HP:0008772	Aplasia/Hypoplasia of the external ear
51633	OTUD6B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
51633	OTUD6B	HP:0002540	Inability to walk
51633	OTUD6B	HP:0002553	Highly arched eyebrow
51633	OTUD6B	HP:0002510	Spastic tetraplegia
51633	OTUD6B	HP:0001371	Flexion contracture
51633	OTUD6B	HP:0000028	Cryptorchidism
51633	OTUD6B	HP:0001344	Absent speech
51633	OTUD6B	HP:0000007	Autosomal recessive inheritance
51633	OTUD6B	HP:0002650	Scoliosis
51633	OTUD6B	HP:0002079	Hypoplasia of the corpus callosum
51633	OTUD6B	HP:0002120	Cerebral cortical atrophy
51633	OTUD6B	HP:0002119	Ventriculomegaly
51633	OTUD6B	HP:0002194	Delayed gross motor development
51633	OTUD6B	HP:0011968	Feeding difficulties
51633	OTUD6B	HP:0200021	Down-sloping shoulders
51633	OTUD6B	HP:0000637	Long palpebral fissure
51633	OTUD6B	HP:0011304	Broad thumb
51633	OTUD6B	HP:0004325	Decreased body weight
51633	OTUD6B	HP:0004322	Short stature
51633	OTUD6B	HP:0100021	Cerebral palsy
51633	OTUD6B	HP:0000750	Delayed speech and language development
51633	OTUD6B	HP:0000729	Autistic behavior
51633	OTUD6B	HP:0003121	Limb joint contracture
51633	OTUD6B	HP:0000960	Sacral dimple
51633	OTUD6B	HP:0000278	Retrognathia
51633	OTUD6B	HP:0000276	Long face
51633	OTUD6B	HP:0000252	Microcephaly
51633	OTUD6B	HP:0000248	Brachycephaly
51633	OTUD6B	HP:0000219	Thin upper lip vermilion
51633	OTUD6B	HP:0000218	High palate
51633	OTUD6B	HP:0001508	Failure to thrive
51633	OTUD6B	HP:0001511	Intrauterine growth retardation
51633	OTUD6B	HP:0000377	Abnormal pinna morphology
51633	OTUD6B	HP:0000365	Hearing impairment
51633	OTUD6B	HP:0000369	Low-set ears
51633	OTUD6B	HP:0000343	Long philtrum
51633	OTUD6B	HP:0001629	Ventricular septal defect
51633	OTUD6B	HP:0001631	Atrial septal defect
51633	OTUD6B	HP:0000400	Macrotia
51633	OTUD6B	HP:0000494	Downslanted palpebral fissures
51633	OTUD6B	HP:0012450	Chronic constipation
51633	OTUD6B	HP:0000470	Short neck
51633	OTUD6B	HP:0001770	Toe syndactyly
51633	OTUD6B	HP:0000445	Wide nose
51633	OTUD6B	HP:0000411	Protruding ear
51633	OTUD6B	HP:0001762	Talipes equinovarus
51633	OTUD6B	HP:0000431	Wide nasal bridge
51633	OTUD6B	HP:0000426	Prominent nasal bridge
51633	OTUD6B	HP:0005469	Flat occiput
51633	OTUD6B	HP:0001845	Overlapping toe
51633	OTUD6B	HP:0000527	Long eyelashes
51645	PPIL1	HP:0410252	Chronic neutropenia
51645	PPIL1	HP:0010864	Intellectual disability, severe
51645	PPIL1	HP:0009879	Simplified gyral pattern
51645	PPIL1	HP:0001276	Hypertonia
51645	PPIL1	HP:0001274	Agenesis of corpus callosum
51645	PPIL1	HP:0001270	Motor delay
51645	PPIL1	HP:0001252	Hypotonia
51645	PPIL1	HP:0007359	Focal-onset seizure
51645	PPIL1	HP:0002510	Spastic tetraplegia
51645	PPIL1	HP:0001348	Brisk reflexes
51645	PPIL1	HP:0001332	Dystonia
51645	PPIL1	HP:0001344	Absent speech
51645	PPIL1	HP:0000007	Autosomal recessive inheritance
51645	PPIL1	HP:0001321	Cerebellar hypoplasia
51645	PPIL1	HP:0012110	Hypoplasia of the pons
51645	PPIL1	HP:0002069	Bilateral tonic-clonic seizure
51645	PPIL1	HP:0002188	Delayed CNS myelination
51645	PPIL1	HP:0002365	Hypoplasia of the brainstem
51645	PPIL1	HP:0000238	Hydrocephalus
51645	PPIL1	HP:0001522	Death in infancy
51645	PPIL1	HP:0032794	Myoclonic seizure
51645	PPIL1	HP:0012469	Infantile spasms
51645	PPIL1	HP:0012434	Delayed social development
51645	PPIL1	HP:0001873	Thrombocytopenia
51649	MRPS23	HP:0000007	Autosomal recessive inheritance
51649	MRPS23	HP:0001410	Decreased liver function
51649	MRPS23	HP:0011923	Decreased activity of mitochondrial complex I
51649	MRPS23	HP:0008347	Decreased activity of mitochondrial complex IV
51651	PTRH2	HP:0001155	Abnormality of the hand
51651	PTRH2	HP:0002460	Distal muscle weakness
51651	PTRH2	HP:0100800	Aplasia/Hypoplasia of the pancreas
51651	PTRH2	HP:0100807	Long fingers
51651	PTRH2	HP:0001272	Cerebellar atrophy
51651	PTRH2	HP:0001270	Motor delay
51651	PTRH2	HP:0001250	Seizure
51651	PTRH2	HP:0001252	Hypotonia
51651	PTRH2	HP:0001251	Ataxia
51651	PTRH2	HP:0001249	Intellectual disability
51651	PTRH2	HP:0001265	Hyporeflexia
51651	PTRH2	HP:0001263	Global developmental delay
51651	PTRH2	HP:0002570	Steatorrhea
51651	PTRH2	HP:0001397	Hepatic steatosis
51651	PTRH2	HP:0001395	Hepatic fibrosis
51651	PTRH2	HP:0001374	Congenital hip dislocation
51651	PTRH2	HP:0000049	Shawl scrotum
51651	PTRH2	HP:0008897	Postnatal growth retardation
51651	PTRH2	HP:0000007	Autosomal recessive inheritance
51651	PTRH2	HP:0001310	Dysmetria
51651	PTRH2	HP:0001319	Neonatal hypotonia
51651	PTRH2	HP:0006276	Hyperechogenic pancreas
51651	PTRH2	HP:0011800	Midface retrusion
51651	PTRH2	HP:0030951	Skeletal muscle fibrosis
51651	PTRH2	HP:0002058	Myopathic facies
51651	PTRH2	HP:0009463	Ulnar deviation of the 3rd finger
51651	PTRH2	HP:0009464	Ulnar deviation of the 2nd finger
51651	PTRH2	HP:0009473	Joint contracture of the hand
51651	PTRH2	HP:0002123	Generalized myoclonic seizure
51651	PTRH2	HP:0003448	Decreased sensory nerve conduction velocity
51651	PTRH2	HP:0003431	Decreased motor nerve conduction velocity
51651	PTRH2	HP:0009623	Proximal placement of thumb
51651	PTRH2	HP:0003593	Infantile onset
51651	PTRH2	HP:0003577	Congenital onset
51651	PTRH2	HP:0002240	Hepatomegaly
51651	PTRH2	HP:0100732	Pancreatic fibrosis
51651	PTRH2	HP:0008366	Foot joint contracture
51651	PTRH2	HP:0010628	Facial palsy
51651	PTRH2	HP:0003693	Distal amyotrophy
51651	PTRH2	HP:0003676	Progressive
51651	PTRH2	HP:0002342	Intellectual disability, moderate
51651	PTRH2	HP:0002353	EEG abnormality
51651	PTRH2	HP:0007108	Demyelinating peripheral neuropathy
51651	PTRH2	HP:0001999	Abnormal facial shape
51651	PTRH2	HP:0004322	Short stature
51651	PTRH2	HP:0100307	Cerebellar hemisphere hypoplasia
51651	PTRH2	HP:0000819	Diabetes mellitus
51651	PTRH2	HP:0000821	Hypothyroidism
51651	PTRH2	HP:0000823	Delayed puberty
51651	PTRH2	HP:0002827	Hip dislocation
51651	PTRH2	HP:0000253	Progressive microcephaly
51651	PTRH2	HP:0000248	Brachycephaly
51651	PTRH2	HP:0000219	Thin upper lip vermilion
51651	PTRH2	HP:0001558	Decreased fetal movement
51651	PTRH2	HP:0001530	Mild postnatal growth retardation
51651	PTRH2	HP:0001508	Failure to thrive
51651	PTRH2	HP:0000316	Hypertelorism
51651	PTRH2	HP:0030146	Abnormal liver parenchyma morphology
51651	PTRH2	HP:0000309	Abnormal midface morphology
51651	PTRH2	HP:0001738	Exocrine pancreatic insufficiency
51651	PTRH2	HP:0000407	Sensorineural hearing impairment
51651	PTRH2	HP:0001771	Achilles tendon contracture
51651	PTRH2	HP:0001772	Talipes equinovalgus
51651	PTRH2	HP:0012418	Hypoxemia
51651	PTRH2	HP:0001760	Abnormal foot morphology
51651	PTRH2	HP:0001762	Talipes equinovarus
51651	PTRH2	HP:0005484	Secondary microcephaly
51651	PTRH2	HP:0001844	Abnormal hallux morphology
51651	PTRH2	HP:0000577	Exotropia
51660	MPC1	HP:0001298	Encephalopathy
51660	MPC1	HP:0001290	Generalized hypotonia
51660	MPC1	HP:0001250	Seizure
51660	MPC1	HP:0001252	Hypotonia
51660	MPC1	HP:0001263	Global developmental delay
51660	MPC1	HP:0003828	Variable expressivity
51660	MPC1	HP:0000007	Autosomal recessive inheritance
51660	MPC1	HP:0002098	Respiratory distress
51660	MPC1	HP:0002151	Increased serum lactate
51660	MPC1	HP:0003577	Congenital onset
51660	MPC1	HP:0002240	Hepatomegaly
51660	MPC1	HP:0003542	Increased serum pyruvate
51660	MPC1	HP:0009830	Peripheral neuropathy
51660	MPC1	HP:0001943	Hypoglycemia
51660	MPC1	HP:0001992	Organic aciduria
51660	MPC1	HP:0003128	Lactic acidosis
51660	MPC1	HP:0000286	Epicanthus
51660	MPC1	HP:0000253	Progressive microcephaly
51660	MPC1	HP:0001583	Rotary nystagmus
51660	MPC1	HP:0000219	Thin upper lip vermilion
51660	MPC1	HP:0000343	Long philtrum
51663	ZFR	HP:0001256	Intellectual disability, mild
51663	ZFR	HP:0001263	Global developmental delay
51663	ZFR	HP:0001347	Hyperreflexia
51663	ZFR	HP:0002064	Spastic gait
51663	ZFR	HP:0002061	Lower limb spasticity
51663	ZFR	HP:0002079	Hypoplasia of the corpus callosum
51663	ZFR	HP:0003487	Babinski sign
51663	ZFR	HP:0003457	EMG abnormality
51663	ZFR	HP:0007020	Progressive spastic paraplegia
51663	ZFR	HP:0002378	Hand tremor
51663	ZFR	HP:0009830	Peripheral neuropathy
51663	ZFR	HP:0100022	Abnormality of movement
51663	ZFR	HP:0012447	Abnormal myelination
51684	SUFU	HP:0001156	Brachydactyly
51684	SUFU	HP:0001166	Arachnodactyly
51684	SUFU	HP:0001162	Postaxial hand polydactyly
51684	SUFU	HP:0001161	Hand polydactyly
51684	SUFU	HP:0001144	Orbital cyst
51684	SUFU	HP:0009914	Cyclopia
51684	SUFU	HP:0002419	Molar tooth sign on MRI
51684	SUFU	HP:0002414	Spina bifida
51684	SUFU	HP:0001274	Agenesis of corpus callosum
51684	SUFU	HP:0001270	Motor delay
51684	SUFU	HP:0001269	Hemiparesis
51684	SUFU	HP:0001288	Gait disturbance
51684	SUFU	HP:0001279	Syncope
51684	SUFU	HP:0001256	Intellectual disability, mild
51684	SUFU	HP:0001250	Seizure
51684	SUFU	HP:0001252	Hypotonia
51684	SUFU	HP:0001251	Ataxia
51684	SUFU	HP:0001249	Intellectual disability
51684	SUFU	HP:0001260	Dysarthria
51684	SUFU	HP:0001263	Global developmental delay
51684	SUFU	HP:0001262	Excessive daytime somnolence
51684	SUFU	HP:0008736	Hypoplasia of penis
51684	SUFU	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
51684	SUFU	HP:0010997	Chromosomal breakage induced by ionizing radiation
51684	SUFU	HP:0007359	Focal-onset seizure
51684	SUFU	HP:0007340	Lower limb muscle weakness
51684	SUFU	HP:0002553	Highly arched eyebrow
51684	SUFU	HP:0002516	Increased intracranial pressure
51684	SUFU	HP:0002514	Cerebral calcification
51684	SUFU	HP:0002512	Brain stem compression
51684	SUFU	HP:0003829	Typified by incomplete penetrance
51684	SUFU	HP:0000098	Tall stature
51684	SUFU	HP:0000062	Ambiguous genitalia
51684	SUFU	HP:0000044	Hypogonadotropic hypogonadism
51684	SUFU	HP:0000020	Urinary incontinence
51684	SUFU	HP:0025318	Ovarian carcinoma
51684	SUFU	HP:0001360	Holoprosencephaly
51684	SUFU	HP:0000028	Cryptorchidism
51684	SUFU	HP:0008872	Feeding difficulties in infancy
51684	SUFU	HP:0002664	Neoplasm
51684	SUFU	HP:0001342	Cerebral hemorrhage
51684	SUFU	HP:0002671	Basal cell carcinoma
51684	SUFU	HP:0000007	Autosomal recessive inheritance
51684	SUFU	HP:0001337	Tremor
51684	SUFU	HP:0000006	Autosomal dominant inheritance
51684	SUFU	HP:0001320	Cerebellar vermis hypoplasia
51684	SUFU	HP:0002650	Scoliosis
51684	SUFU	HP:0001317	Abnormal cerebellum morphology
51684	SUFU	HP:0000175	Cleft palate
51684	SUFU	HP:0000141	Amenorrhea
51684	SUFU	HP:0006315	Solitary median maxillary central incisor
51684	SUFU	HP:0002793	Abnormal pattern of respiration
51684	SUFU	HP:0001428	Somatic mutation
51684	SUFU	HP:0000104	Renal agenesis
51684	SUFU	HP:0002751	Kyphoscoliosis
51684	SUFU	HP:0002017	Nausea and vomiting
51684	SUFU	HP:0002007	Frontal bossing
51684	SUFU	HP:0003312	Abnormal form of the vertebral bodies
51684	SUFU	HP:0002084	Encephalocele
51684	SUFU	HP:0100543	Cognitive impairment
51684	SUFU	HP:0002099	Asthma
51684	SUFU	HP:0010442	Polydactyly
51684	SUFU	HP:0011752	Neoplasm of the posterior pituitary
51684	SUFU	HP:0011750	Neoplasm of the anterior pituitary
51684	SUFU	HP:0011730	Abnormal central sensory function
51684	SUFU	HP:0008163	Decreased circulating cortisol level
51684	SUFU	HP:0003484	Upper limb muscle weakness
51684	SUFU	HP:0004795	Hamartomatous stomach polyps
51684	SUFU	HP:0002126	Polymicrogyria
51684	SUFU	HP:0003458	EMG: myopathic abnormalities
51684	SUFU	HP:0002104	Apnea
51684	SUFU	HP:0003418	Back pain
51684	SUFU	HP:0010609	Skin tags
51684	SUFU	HP:0010603	Odontogenic keratocysts of the jaw
51684	SUFU	HP:0002167	Abnormality of speech or vocalization
51684	SUFU	HP:0008240	Secondary growth hormone deficiency
51684	SUFU	HP:0008245	Pituitary hypothyroidism
51684	SUFU	HP:0008237	Hypothalamic hypothyroidism
51684	SUFU	HP:0010534	Transient global amnesia
51684	SUFU	HP:0008214	Decreased serum estradiol
51684	SUFU	HP:0008202	Reduced circulating prolactin concentration
51684	SUFU	HP:0002269	Abnormality of neuronal migration
51684	SUFU	HP:0003577	Congenital onset
51684	SUFU	HP:0003581	Adult onset
51684	SUFU	HP:0002251	Aganglionic megacolon
51684	SUFU	HP:0002247	Duodenal atresia
51684	SUFU	HP:0009729	Cardiac rhabdomyoma
51684	SUFU	HP:0009730	Rhabdomyoma
51684	SUFU	HP:0002280	Enlarged cisterna magna
51684	SUFU	HP:0010644	Midnasal stenosis
51684	SUFU	HP:0009650	Short distal phalanx of the thumb
51684	SUFU	HP:0010628	Facial palsy
51684	SUFU	HP:0010618	Ovarian fibroma
51684	SUFU	HP:0010617	Cardiac fibroma
51684	SUFU	HP:0010610	Palmar pits
51684	SUFU	HP:0010612	Plantar pits
51684	SUFU	HP:0001056	Milia
51684	SUFU	HP:0001067	Neurofibromas
51684	SUFU	HP:0001028	Hemangioma
51684	SUFU	HP:0002355	Difficulty walking
51684	SUFU	HP:0002354	Memory impairment
51684	SUFU	HP:0002315	Headache
51684	SUFU	HP:0100648	Neoplasm of the tongue
51684	SUFU	HP:0200021	Down-sloping shoulders
51684	SUFU	HP:0100661	Trigeminal neuralgia
51684	SUFU	HP:0010828	Hemifacial spasm
51684	SUFU	HP:0010804	Tented upper lip vermilion
51684	SUFU	HP:0009800	Maternal diabetes
51684	SUFU	HP:0001085	Papilledema
51684	SUFU	HP:0008422	Vertebral wedging
51684	SUFU	HP:0030521	Bitemporal hemianopia
51684	SUFU	HP:0006824	Cranial nerve paralysis
51684	SUFU	HP:0030532	Visual acuity test abnormality
51684	SUFU	HP:0004280	Irregular ossification of hand bones
51684	SUFU	HP:0000639	Nystagmus
51684	SUFU	HP:0000618	Blindness
51684	SUFU	HP:0000612	Iris coloboma
51684	SUFU	HP:0000602	Ophthalmoplegia
51684	SUFU	HP:0000601	Hypotelorism
51684	SUFU	HP:0010044	Short 4th metacarpal
51684	SUFU	HP:0012691	Focal T2 hypointense thalamic lesion
51684	SUFU	HP:0012658	Abnormal brain FDG positron emission tomography
51684	SUFU	HP:0000657	Oculomotor apraxia
51684	SUFU	HP:0000670	Carious teeth
51684	SUFU	HP:0004322	Short stature
51684	SUFU	HP:0004302	Functional motor deficit
51684	SUFU	HP:0030680	Abnormality of cardiovascular system morphology
51684	SUFU	HP:0000802	Impotence
51684	SUFU	HP:0100010	Spinal meningioma
51684	SUFU	HP:0100009	Intracranial meningioma
51684	SUFU	HP:0000766	Abnormal sternum morphology
51684	SUFU	HP:0000712	Emotional lability
51684	SUFU	HP:0030591	Abnormal kinetic perimetry test
51684	SUFU	HP:0011442	Abnormal central motor function
51684	SUFU	HP:0000773	Short ribs
51684	SUFU	HP:0004422	Biparietal narrowing
51684	SUFU	HP:0030766	Ear pain
51684	SUFU	HP:0004408	Abnormality of the sense of smell
51684	SUFU	HP:0003196	Short nose
51684	SUFU	HP:0000912	Sprengel anomaly
51684	SUFU	HP:0000892	Bifid ribs
51684	SUFU	HP:0000871	Panhypopituitarism
51684	SUFU	HP:0000870	Increased circulating prolactin concentration
51684	SUFU	HP:0000864	Abnormality of the hypothalamus-pituitary axis
51684	SUFU	HP:0000821	Hypothyroidism
51684	SUFU	HP:0030878	Abnormality on pulmonary function testing
51684	SUFU	HP:0045026	Abnormal mediastinum morphology
51684	SUFU	HP:0000995	Melanocytic nevus
51684	SUFU	HP:0005815	Supernumerary ribs
51684	SUFU	HP:0040171	Decreased serum testosterone concentration
51684	SUFU	HP:0008069	Neoplasm of the skin
51684	SUFU	HP:0007715	Weak extraocular muscles
51684	SUFU	HP:0012285	Abnormal hypothalamus physiology
51684	SUFU	HP:0000286	Epicanthus
51684	SUFU	HP:0000283	Broad face
51684	SUFU	HP:0000280	Coarse facial features
51684	SUFU	HP:0012246	Oculomotor nerve palsy
51684	SUFU	HP:0000256	Macrocephaly
51684	SUFU	HP:0000276	Long face
51684	SUFU	HP:0000242	Parietal bossing
51684	SUFU	HP:0000238	Hydrocephalus
51684	SUFU	HP:0000252	Microcephaly
51684	SUFU	HP:0000248	Brachycephaly
51684	SUFU	HP:0002876	Episodic tachypnea
51684	SUFU	HP:0002885	Medulloblastoma
51684	SUFU	HP:0002858	Meningioma
51684	SUFU	HP:0000202	Orofacial cleft
51684	SUFU	HP:0000204	Cleft upper lip
51684	SUFU	HP:0001520	Large for gestational age
51684	SUFU	HP:0001511	Intrauterine growth retardation
51684	SUFU	HP:0001513	Obesity
51684	SUFU	HP:0006520	Progressive pulmonary function impairment
51684	SUFU	HP:0002937	Hemivertebrae
51684	SUFU	HP:0002948	Vertebral fusion
51684	SUFU	HP:0002920	Decreased circulating ACTH level
51684	SUFU	HP:0001696	Situs inversus totalis
51684	SUFU	HP:0000360	Tinnitus
51684	SUFU	HP:0000369	Low-set ears
51684	SUFU	HP:0000316	Hypertelorism
51684	SUFU	HP:0000322	Short philtrum
51684	SUFU	HP:0001622	Premature birth
51684	SUFU	HP:0001639	Hypertrophic cardiomyopathy
51684	SUFU	HP:0001636	Tetralogy of Fallot
51684	SUFU	HP:0000303	Mandibular prognathia
51684	SUFU	HP:0007924	Slow decrease in visual acuity
51684	SUFU	HP:0005280	Depressed nasal bridge
51684	SUFU	HP:0000486	Strabismus
51684	SUFU	HP:0011133	Increased sensitivity to ionizing radiation
51684	SUFU	HP:0000464	Abnormality of the neck
51684	SUFU	HP:0000463	Anteverted nares
51684	SUFU	HP:0000453	Choanal atresia
51684	SUFU	HP:0000446	Narrow nasal bridge
51684	SUFU	HP:0000431	Wide nasal bridge
51684	SUFU	HP:0000426	Prominent nasal bridge
51684	SUFU	HP:0005449	Bridged sella turcica
51684	SUFU	HP:0005462	Calcification of falx cerebri
51684	SUFU	HP:0012505	Enlarged pituitary gland
51684	SUFU	HP:0000518	Cataract
51684	SUFU	HP:0000520	Proptosis
51684	SUFU	HP:0001829	Foot polydactyly
51684	SUFU	HP:0000506	Telecanthus
51684	SUFU	HP:0000508	Ptosis
51684	SUFU	HP:0001830	Postaxial foot polydactyly
51684	SUFU	HP:0000501	Glaucoma
51684	SUFU	HP:0030344	Decreased circulating luteinizing hormone level
51684	SUFU	HP:0030341	Decreased circulating follicle stimulating hormone concentration
51684	SUFU	HP:0000568	Microphthalmia
51692	CPSF3	HP:0001270	Motor delay
51692	CPSF3	HP:0001250	Seizure
51692	CPSF3	HP:0001252	Hypotonia
51692	CPSF3	HP:0001249	Intellectual disability
51692	CPSF3	HP:0001263	Global developmental delay
51692	CPSF3	HP:0001257	Spasticity
51692	CPSF3	HP:0007371	Corpus callosum atrophy
51692	CPSF3	HP:0000007	Autosomal recessive inheritance
51692	CPSF3	HP:0001320	Cerebellar vermis hypoplasia
51692	CPSF3	HP:0000158	Macroglossia
51692	CPSF3	HP:0002719	Recurrent infections
51692	CPSF3	HP:0002020	Gastroesophageal reflux
51692	CPSF3	HP:0002059	Cerebral atrophy
51692	CPSF3	HP:0002181	Cerebral edema
51692	CPSF3	HP:0003593	Infantile onset
51692	CPSF3	HP:0100704	Cerebral visual impairment
51692	CPSF3	HP:0011968	Feeding difficulties
51692	CPSF3	HP:0007178	Motor polyneuropathy
51692	CPSF3	HP:0000639	Nystagmus
51692	CPSF3	HP:0000648	Optic atrophy
51692	CPSF3	HP:0100021	Cerebral palsy
51692	CPSF3	HP:0011461	Fetal onset
51692	CPSF3	HP:0000276	Long face
51692	CPSF3	HP:0000252	Microcephaly
51692	CPSF3	HP:0000218	High palate
51692	CPSF3	HP:0001558	Decreased fetal movement
51692	CPSF3	HP:0001508	Failure to thrive
51692	CPSF3	HP:0000486	Strabismus
51692	CPSF3	HP:0000463	Anteverted nares
51693	TRAPPC2L	HP:0002445	Tetraplegia
51693	TRAPPC2L	HP:0001250	Seizure
51693	TRAPPC2L	HP:0002540	Inability to walk
51693	TRAPPC2L	HP:0001344	Absent speech
51693	TRAPPC2L	HP:0000007	Autosomal recessive inheritance
51693	TRAPPC2L	HP:0002059	Cerebral atrophy
51693	TRAPPC2L	HP:0002133	Status epilepticus
51693	TRAPPC2L	HP:0002188	Delayed CNS myelination
51693	TRAPPC2L	HP:0003593	Infantile onset
51693	TRAPPC2L	HP:0100704	Cerebral visual impairment
51693	TRAPPC2L	HP:0002376	Developmental regression
51693	TRAPPC2L	HP:0003676	Progressive
51693	TRAPPC2L	HP:0011344	Severe global developmental delay
51693	TRAPPC2L	HP:0003236	Elevated circulating creatine kinase concentration
51693	TRAPPC2L	HP:0003201	Rhabdomyolysis
51693	TRAPPC2L	HP:0005484	Secondary microcephaly
51702	PADI3	HP:0002552	Trichodysplasia
51702	PADI3	HP:0000007	Autosomal recessive inheritance
51702	PADI3	HP:0002224	Woolly hair
51702	PADI3	HP:0002235	Pili canaliculi
51702	PADI3	HP:0002232	Patchy alopecia
51702	PADI3	HP:0002208	Coarse hair
51702	PADI3	HP:0011359	Dry hair
51702	PADI3	HP:0011364	White hair
51702	PADI3	HP:0011463	Childhood onset
51702	PADI3	HP:0001595	Abnormal hair morphology
51702	PADI3	HP:0030056	Uncombable hair
51715	RAB23	HP:0001156	Brachydactyly
51715	RAB23	HP:0001162	Postaxial hand polydactyly
51715	RAB23	HP:0001159	Syndactyly
51715	RAB23	HP:0009891	Underdeveloped supraorbital ridges
51715	RAB23	HP:0001249	Intellectual disability
51715	RAB23	HP:0006101	Finger syndactyly
51715	RAB23	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
51715	RAB23	HP:0000072	Hydroureter
51715	RAB23	HP:0002676	Cloverleaf skull
51715	RAB23	HP:0001363	Craniosynostosis
51715	RAB23	HP:0000028	Cryptorchidism
51715	RAB23	HP:0002673	Coxa valga
51715	RAB23	HP:0000007	Autosomal recessive inheritance
51715	RAB23	HP:0002650	Scoliosis
51715	RAB23	HP:0006349	Agenesis of permanent teeth
51715	RAB23	HP:0006335	Persistence of primary teeth
51715	RAB23	HP:0002700	Large foramen magnum
51715	RAB23	HP:0000126	Hydronephrosis
51715	RAB23	HP:0002751	Kyphoscoliosis
51715	RAB23	HP:0011800	Midface retrusion
51715	RAB23	HP:0002059	Cerebral atrophy
51715	RAB23	HP:0010442	Polydactyly
51715	RAB23	HP:0009473	Joint contracture of the hand
51715	RAB23	HP:0009608	Complete duplication of proximal phalanx of the thumb
51715	RAB23	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
51715	RAB23	HP:0004209	Clinodactyly of the 5th finger
51715	RAB23	HP:0010093	Duplication of the proximal phalanx of the hallux
51715	RAB23	HP:0000648	Optic atrophy
51715	RAB23	HP:0011304	Broad thumb
51715	RAB23	HP:0004322	Short stature
51715	RAB23	HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes
51715	RAB23	HP:0030680	Abnormality of cardiovascular system morphology
51715	RAB23	HP:0004443	Lambdoidal craniosynostosis
51715	RAB23	HP:0004442	Sagittal craniosynostosis
51715	RAB23	HP:0004440	Coronal craniosynostosis
51715	RAB23	HP:0000929	Abnormal skull morphology
51715	RAB23	HP:0003182	Shallow acetabular fossae
51715	RAB23	HP:0004467	Preauricular pit
51715	RAB23	HP:0000826	Precocious puberty
51715	RAB23	HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand
51715	RAB23	HP:0003241	External genital hypoplasia
51715	RAB23	HP:0003298	Spina bifida occulta
51715	RAB23	HP:0000960	Sacral dimple
51715	RAB23	HP:0000286	Epicanthus
51715	RAB23	HP:0000263	Oxycephaly
51715	RAB23	HP:0000262	Turricephaly
51715	RAB23	HP:0000272	Malar flattening
51715	RAB23	HP:0012243	Abnormal reproductive system morphology
51715	RAB23	HP:0007759	Opacification of the corneal stroma
51715	RAB23	HP:0006397	Lateral displacement of patellae
51715	RAB23	HP:0000248	Brachycephaly
51715	RAB23	HP:0000218	High palate
51715	RAB23	HP:0002857	Genu valgum
51715	RAB23	HP:0002869	Flared iliac wing
51715	RAB23	HP:0001537	Umbilical hernia
51715	RAB23	HP:0001539	Omphalocele
51715	RAB23	HP:0001513	Obesity
51715	RAB23	HP:0012385	Camptodactyly
51715	RAB23	HP:0000377	Abnormal pinna morphology
51715	RAB23	HP:0000369	Low-set ears
51715	RAB23	HP:0001669	Transposition of the great arteries
51715	RAB23	HP:0000347	Micrognathia
51715	RAB23	HP:0001643	Patent ductus arteriosus
51715	RAB23	HP:0001642	Pulmonic stenosis
51715	RAB23	HP:0000327	Hypoplasia of the maxilla
51715	RAB23	HP:0001629	Ventricular septal defect
51715	RAB23	HP:0002970	Genu varum
51715	RAB23	HP:0001636	Tetralogy of Fallot
51715	RAB23	HP:0001631	Atrial septal defect
51715	RAB23	HP:0000407	Sensorineural hearing impairment
51715	RAB23	HP:0000405	Conductive hearing impairment
51715	RAB23	HP:0005280	Depressed nasal bridge
51715	RAB23	HP:0000482	Microcornea
51715	RAB23	HP:0000481	Abnormal cornea morphology
51715	RAB23	HP:0000470	Short neck
51715	RAB23	HP:0001770	Toe syndactyly
51715	RAB23	HP:0001748	Polysplenia
51715	RAB23	HP:0001762	Talipes equinovarus
51715	RAB23	HP:0001841	Preaxial foot polydactyly
51715	RAB23	HP:0001840	Metatarsus adductus
51715	RAB23	HP:0000506	Telecanthus
51715	RAB23	HP:0004097	Deviation of finger
51726	DNAJB11	HP:0003774	Stage 5 chronic kidney disease
51726	DNAJB11	HP:0000083	Renal insufficiency
51726	DNAJB11	HP:0000010	Recurrent urinary tract infections
51726	DNAJB11	HP:0000006	Autosomal dominant inheritance
51726	DNAJB11	HP:0002616	Aortic root aneurysm
51726	DNAJB11	HP:0000113	Polycystic kidney dysplasia
51726	DNAJB11	HP:0000107	Renal cyst
51726	DNAJB11	HP:0000105	Enlarged kidney
51726	DNAJB11	HP:0001407	Hepatic cysts
51726	DNAJB11	HP:0011760	Pituitary growth hormone cell adenoma
51726	DNAJB11	HP:0100702	Arachnoid cyst
51726	DNAJB11	HP:0003581	Adult onset
51726	DNAJB11	HP:0003676	Progressive
51726	DNAJB11	HP:0004944	Dilatation of the cerebral artery
51726	DNAJB11	HP:0012622	Chronic kidney disease
51726	DNAJB11	HP:0001997	Gout
51726	DNAJB11	HP:0000790	Hematuria
51726	DNAJB11	HP:0000787	Nephrolithiasis
51726	DNAJB11	HP:0000822	Hypertension
51726	DNAJB11	HP:0003259	Elevated circulating creatinine concentration
51726	DNAJB11	HP:0012213	Decreased glomerular filtration rate
51726	DNAJB11	HP:0012207	Reduced sperm motility
51726	DNAJB11	HP:0006557	Polycystic liver disease
51726	DNAJB11	HP:0011004	Abnormal systemic arterial morphology
51726	DNAJB11	HP:0012330	Pyelonephritis
51726	DNAJB11	HP:0001634	Mitral valve prolapse
51726	DNAJB11	HP:0001737	Pancreatic cysts
51726	DNAJB11	HP:0012591	Abnormal urinary electrolyte concentration
51726	DNAJB11	HP:0012592	Albuminuria
51726	DNAJB11	HP:0012531	Pain
51728	POLR3K	HP:0001272	Cerebellar atrophy
51728	POLR3K	HP:0001268	Mental deterioration
51728	POLR3K	HP:0001251	Ataxia
51728	POLR3K	HP:0001259	Coma
51728	POLR3K	HP:0007371	Corpus callosum atrophy
51728	POLR3K	HP:0000044	Hypogonadotropic hypogonadism
51728	POLR3K	HP:0025336	Delayed ability to sit
51728	POLR3K	HP:0000028	Cryptorchidism
51728	POLR3K	HP:0008872	Feeding difficulties in infancy
51728	POLR3K	HP:0001332	Dystonia
51728	POLR3K	HP:0001344	Absent speech
51728	POLR3K	HP:0000007	Autosomal recessive inheritance
51728	POLR3K	HP:0003593	Infantile onset
51728	POLR3K	HP:0002273	Tetraparesis
51728	POLR3K	HP:0100660	Dyskinesia
51728	POLR3K	HP:0002305	Athetosis
51728	POLR3K	HP:0000639	Nystagmus
51728	POLR3K	HP:0000648	Optic atrophy
51728	POLR3K	HP:0001946	Ketosis
51728	POLR3K	HP:0000668	Hypodontia
51728	POLR3K	HP:0000750	Delayed speech and language development
51728	POLR3K	HP:0033044	Motor regression
51728	POLR3K	HP:0000252	Microcephaly
51728	POLR3K	HP:0001508	Failure to thrive
51728	POLR3K	HP:0001510	Growth delay
51729	WBP11	HP:0001263	Global developmental delay
51729	WBP11	HP:0002575	Tracheoesophageal fistula
51729	WBP11	HP:0001357	Plagiocephaly
51729	WBP11	HP:0000006	Autosomal dominant inheritance
51729	WBP11	HP:0000176	Submucous cleft hard palate
51729	WBP11	HP:0000122	Unilateral renal agenesis
51729	WBP11	HP:0000104	Renal agenesis
51729	WBP11	HP:0002032	Esophageal atresia
51729	WBP11	HP:0003316	Butterfly vertebrae
51729	WBP11	HP:0002162	Low posterior hairline
51729	WBP11	HP:0002247	Duodenal atresia
51729	WBP11	HP:0007018	Attention deficit hyperactivity disorder
51729	WBP11	HP:0004322	Short stature
51729	WBP11	HP:0000767	Pectus excavatum
51729	WBP11	HP:0000912	Sprengel anomaly
51729	WBP11	HP:0004467	Preauricular pit
51729	WBP11	HP:0003298	Spina bifida occulta
51729	WBP11	HP:0000998	Hypertrichosis
51729	WBP11	HP:0011623	Muscular ventricular septal defect
51729	WBP11	HP:0000957	Cafe-au-lait spot
51729	WBP11	HP:0000278	Retrognathia
51729	WBP11	HP:0000252	Microcephaly
51729	WBP11	HP:0000384	Preauricular skin tag
51729	WBP11	HP:0002949	Fused cervical vertebrae
51729	WBP11	HP:0000369	Low-set ears
51729	WBP11	HP:0000337	Broad forehead
51729	WBP11	HP:0000465	Webbed neck
51729	WBP11	HP:0000453	Choanal atresia
51729	WBP11	HP:0000445	Wide nose
51733	UPB1	HP:0001270	Motor delay
51733	UPB1	HP:0001250	Seizure
51733	UPB1	HP:0001252	Hypotonia
51733	UPB1	HP:0001249	Intellectual disability
51733	UPB1	HP:0001263	Global developmental delay
51733	UPB1	HP:0002521	Hypsarrhythmia
51733	UPB1	HP:0000048	Bifid scrotum
51733	UPB1	HP:0001332	Dystonia
51733	UPB1	HP:0000007	Autosomal recessive inheritance
51733	UPB1	HP:0002650	Scoliosis
51733	UPB1	HP:0001319	Neonatal hypotonia
51733	UPB1	HP:0002023	Anal atresia
51733	UPB1	HP:0002151	Increased serum lactate
51733	UPB1	HP:0002133	Status epilepticus
51733	UPB1	HP:0002188	Delayed CNS myelination
51733	UPB1	HP:0034595	Elevated circulating N-carbamyl-beta-alanine concentration
51733	UPB1	HP:0003593	Infantile onset
51733	UPB1	HP:0007185	Loss of consciousness
51733	UPB1	HP:0001942	Metabolic acidosis
51733	UPB1	HP:0000252	Microcephaly
51733	UPB1	HP:0002836	Bladder exstrophy
51738	GHRL	HP:0010982	Polygenic inheritance
51738	GHRL	HP:0000007	Autosomal recessive inheritance
51738	GHRL	HP:0000006	Autosomal dominant inheritance
51738	GHRL	HP:0031819	Increased waist to hip ratio
51738	GHRL	HP:0001513	Obesity
51738	GHRL	HP:0012340	Decreased resting energy expenditure
51741	WWOX	HP:0001188	Hand clenching
51741	WWOX	HP:0009879	Simplified gyral pattern
51741	WWOX	HP:0002421	Poor head control
51741	WWOX	HP:0001298	Encephalopathy
51741	WWOX	HP:0001290	Generalized hypotonia
51741	WWOX	HP:0001272	Cerebellar atrophy
51741	WWOX	HP:0001273	Abnormal corpus callosum morphology
51741	WWOX	HP:0001270	Motor delay
51741	WWOX	HP:0001268	Mental deterioration
51741	WWOX	HP:0001250	Seizure
51741	WWOX	HP:0001251	Ataxia
51741	WWOX	HP:0001249	Intellectual disability
51741	WWOX	HP:0001265	Hyporeflexia
51741	WWOX	HP:0001260	Dysarthria
51741	WWOX	HP:0001263	Global developmental delay
51741	WWOX	HP:0001257	Spasticity
51741	WWOX	HP:0008726	Hypoplasia of the vagina
51741	WWOX	HP:0008730	Female external genitalia in individual with 46,XY karyotype
51741	WWOX	HP:0008734	Decreased testicular size
51741	WWOX	HP:0008736	Hypoplasia of penis
51741	WWOX	HP:0008665	Clitoral hypertrophy
51741	WWOX	HP:0002521	Hypsarrhythmia
51741	WWOX	HP:0002514	Cerebral calcification
51741	WWOX	HP:0002509	Limb hypertonia
51741	WWOX	HP:0000062	Ambiguous genitalia
51741	WWOX	HP:0000058	Abnormal labia morphology
51741	WWOX	HP:0000045	Abnormality of the scrotum
51741	WWOX	HP:0000054	Micropenis
51741	WWOX	HP:0000047	Hypospadias
51741	WWOX	HP:0001347	Hyperreflexia
51741	WWOX	HP:0000030	Testicular gonadoblastoma
51741	WWOX	HP:0000028	Cryptorchidism
51741	WWOX	HP:0000027	Azoospermia
51741	WWOX	HP:0008872	Feeding difficulties in infancy
51741	WWOX	HP:0000007	Autosomal recessive inheritance
51741	WWOX	HP:0002667	Nephroblastoma
51741	WWOX	HP:0001337	Tremor
51741	WWOX	HP:0001336	Myoclonus
51741	WWOX	HP:0001315	Reduced tendon reflexes
51741	WWOX	HP:0000142	Abnormal vagina morphology
51741	WWOX	HP:0000150	Gonadoblastoma
51741	WWOX	HP:0000149	Ovarian gonadoblastoma
51741	WWOX	HP:0008936	Axial hypotonia
51741	WWOX	HP:0000133	Gonadal dysgenesis
51741	WWOX	HP:0000100	Nephrotic syndrome
51741	WWOX	HP:0001428	Somatic mutation
51741	WWOX	HP:0002750	Delayed skeletal maturation
51741	WWOX	HP:0002716	Lymphadenopathy
51741	WWOX	HP:0002020	Gastroesophageal reflux
51741	WWOX	HP:0002017	Nausea and vomiting
51741	WWOX	HP:0002069	Bilateral tonic-clonic seizure
51741	WWOX	HP:0002066	Gait ataxia
51741	WWOX	HP:0002063	Rigidity
51741	WWOX	HP:0002061	Lower limb spasticity
51741	WWOX	HP:0002079	Hypoplasia of the corpus callosum
51741	WWOX	HP:0002070	Limb ataxia
51741	WWOX	HP:0002059	Cerebral atrophy
51741	WWOX	HP:0008193	Primary gonadal insufficiency
51741	WWOX	HP:0008187	Absence of secondary sex characteristics
51741	WWOX	HP:0010464	Streak ovary
51741	WWOX	HP:0003487	Babinski sign
51741	WWOX	HP:0002133	Status epilepticus
51741	WWOX	HP:0008232	Elevated circulating follicle stimulating hormone level
51741	WWOX	HP:0008214	Decreased serum estradiol
51741	WWOX	HP:0003593	Infantile onset
51741	WWOX	HP:0100710	Impulsivity
51741	WWOX	HP:0002215	Sparse axillary hair
51741	WWOX	HP:0002225	Sparse pubic hair
51741	WWOX	HP:0100779	Urogenital sinus anomaly
51741	WWOX	HP:0200134	Epileptic encephalopathy
51741	WWOX	HP:0100749	Chest pain
51741	WWOX	HP:0007018	Attention deficit hyperactivity disorder
51741	WWOX	HP:0011968	Feeding difficulties
51741	WWOX	HP:0011969	Elevated circulating luteinizing hormone level
51741	WWOX	HP:0002375	Hypokinesia
51741	WWOX	HP:0002376	Developmental regression
51741	WWOX	HP:0002355	Difficulty walking
51741	WWOX	HP:0002317	Unsteady gait
51741	WWOX	HP:0010844	EEG with multifocal slow activity
51741	WWOX	HP:0100660	Dyskinesia
51741	WWOX	HP:0000640	Gaze-evoked nystagmus
51741	WWOX	HP:0000639	Nystagmus
51741	WWOX	HP:0000648	Optic atrophy
51741	WWOX	HP:0000668	Hypodontia
51741	WWOX	HP:0004322	Short stature
51741	WWOX	HP:0004305	Involuntary movements
51741	WWOX	HP:0030680	Abnormality of cardiovascular system morphology
51741	WWOX	HP:0000771	Gynecomastia
51741	WWOX	HP:0012735	Cough
51741	WWOX	HP:0000750	Delayed speech and language development
51741	WWOX	HP:0000717	Autism
51741	WWOX	HP:0000708	Atypical behavior
51741	WWOX	HP:0011459	Esophageal carcinoma
51741	WWOX	HP:0011443	Abnormality of coordination
51741	WWOX	HP:0000786	Primary amenorrhea
51741	WWOX	HP:0012870	Vanishing testis
51741	WWOX	HP:0000868	Decreased fertility in females
51741	WWOX	HP:0000837	Increased circulating gonadotropin level
51741	WWOX	HP:0000846	Adrenal insufficiency
51741	WWOX	HP:0000815	Hypergonadotropic hypogonadism
51741	WWOX	HP:0000812	Abnormal internal genitalia
51741	WWOX	HP:0000823	Delayed puberty
51741	WWOX	HP:0003251	Male infertility
51741	WWOX	HP:0000939	Osteoporosis
51741	WWOX	HP:0040171	Decreased serum testosterone concentration
51741	WWOX	HP:0000286	Epicanthus
51741	WWOX	HP:0012244	Abnormal sex determination
51741	WWOX	HP:0000253	Progressive microcephaly
51741	WWOX	HP:0000252	Microcephaly
51741	WWOX	HP:0001558	Decreased fetal movement
51741	WWOX	HP:0001508	Failure to thrive
51741	WWOX	HP:0002839	Urinary bladder sphincter dysfunction
51741	WWOX	HP:0001510	Growth delay
51741	WWOX	HP:0001608	Abnormality of the voice
51741	WWOX	HP:0000341	Narrow forehead
51741	WWOX	HP:0000343	Long philtrum
51741	WWOX	HP:0000348	High forehead
51741	WWOX	HP:0000494	Downslanted palpebral fissures
51741	WWOX	HP:0000463	Anteverted nares
51741	WWOX	HP:0012448	Delayed myelination
51741	WWOX	HP:0012444	Brain atrophy
51741	WWOX	HP:0012447	Abnormal myelination
51741	WWOX	HP:0000512	Abnormal electroretinogram
51741	WWOX	HP:0000508	Ptosis
51741	WWOX	HP:0000504	Abnormality of vision
51741	WWOX	HP:0000592	Blue sclerae
51741	WWOX	HP:0012547	Abnormal involuntary eye movements
51741	WWOX	HP:0001864	Clinodactyly of the 5th toe
51741	WWOX	HP:0000546	Retinal degeneration
51744	CD244	HP:0001370	Rheumatoid arthritis
51744	CD244	HP:0001386	Joint swelling
51744	CD244	HP:0001387	Joint stiffness
51744	CD244	HP:0006150	Swan neck-like deformities of the fingers
51744	CD244	HP:0002633	Vasculitis
51744	CD244	HP:0006252	Interphalangeal joint erosions
51744	CD244	HP:0003565	Elevated erythrocyte sedimentation rate
51744	CD244	HP:0001945	Fever
51744	CD244	HP:0005764	Polyarticular arthritis
51744	CD244	HP:0033034	Anti-citrullinated protein antibody positivity
51744	CD244	HP:0012276	Digital flexor tenosynovitis
51744	CD244	HP:0002829	Arthralgia
51744	CD244	HP:0012378	Fatigue
51744	CD244	HP:0002923	Rheumatoid factor positive
51744	CD244	HP:0001824	Weight loss
51744	CD244	HP:0011227	Elevated circulating C-reactive protein concentration
51750	RTEL1	HP:0025175	Honeycomb lung
51750	RTEL1	HP:0025179	Ground-glass opacification
51750	RTEL1	HP:0010885	Avascular necrosis
51750	RTEL1	HP:0001276	Hypertonia
51750	RTEL1	HP:0002583	Colitis
51750	RTEL1	HP:0001251	Ataxia
51750	RTEL1	HP:0001249	Intellectual disability
51750	RTEL1	HP:0001265	Hyporeflexia
51750	RTEL1	HP:0001263	Global developmental delay
51750	RTEL1	HP:0001231	Abnormal fingernail morphology
51750	RTEL1	HP:0002575	Tracheoesophageal fistula
51750	RTEL1	HP:0007440	Generalized hyperpigmentation
51750	RTEL1	HP:0007392	Excessive wrinkled skin
51750	RTEL1	HP:0008661	Urethral stenosis
51750	RTEL1	HP:0002514	Cerebral calcification
51750	RTEL1	HP:0003828	Variable expressivity
51750	RTEL1	HP:0003829	Typified by incomplete penetrance
51750	RTEL1	HP:0032341	Reduced forced vital capacity
51750	RTEL1	HP:0032342	Reduced forced expiratory volume in one second
51750	RTEL1	HP:0001399	Hepatic failure
51750	RTEL1	HP:0001394	Cirrhosis
51750	RTEL1	HP:0000035	Abnormal testis morphology
51750	RTEL1	HP:0008897	Postnatal growth retardation
51750	RTEL1	HP:0025390	Reticular pattern on pulmonary HRCT
51750	RTEL1	HP:0002664	Neoplasm
51750	RTEL1	HP:0000008	Abnormal morphology of female internal genitalia
51750	RTEL1	HP:0000007	Autosomal recessive inheritance
51750	RTEL1	HP:0002665	Lymphoma
51750	RTEL1	HP:0000006	Autosomal dominant inheritance
51750	RTEL1	HP:0002650	Scoliosis
51750	RTEL1	HP:0001321	Cerebellar hypoplasia
51750	RTEL1	HP:0000164	Abnormality of the dentition
51750	RTEL1	HP:0002757	Recurrent fractures
51750	RTEL1	HP:0002745	Oral leukoplakia
51750	RTEL1	HP:0002721	Immunodeficiency
51750	RTEL1	HP:0002024	Malabsorption
51750	RTEL1	HP:0002020	Gastroesophageal reflux
51750	RTEL1	HP:0010444	Pulmonary insufficiency
51750	RTEL1	HP:0010450	Esophageal stenosis
51750	RTEL1	HP:0100585	Telangiectasia of the skin
51750	RTEL1	HP:0002120	Cerebral cortical atrophy
51750	RTEL1	HP:0002119	Ventriculomegaly
51750	RTEL1	HP:0002110	Bronchiectasis
51750	RTEL1	HP:0002240	Hepatomegaly
51750	RTEL1	HP:0003581	Adult onset
51750	RTEL1	HP:0002216	Premature graying of hair
51750	RTEL1	HP:0002209	Sparse scalp hair
51750	RTEL1	HP:0002205	Recurrent respiratory infections
51750	RTEL1	HP:0002206	Pulmonary fibrosis
51750	RTEL1	HP:0008404	Nail dystrophy
51750	RTEL1	HP:0100759	Clubbing of fingers
51750	RTEL1	HP:0010624	Aplastic/hypoplastic toenail
51750	RTEL1	HP:0001053	Hypopigmented skin patches
51750	RTEL1	HP:0001034	Hypermelanotic macule
51750	RTEL1	HP:0001000	Abnormality of skin pigmentation
51750	RTEL1	HP:0200037	Skin vesicle
51750	RTEL1	HP:0100670	Coarse metaphyseal trabecularization
51750	RTEL1	HP:0100627	Displacement of the urethral meatus
51750	RTEL1	HP:0200042	Skin ulcer
51750	RTEL1	HP:0005528	Bone marrow hypocellularity
51750	RTEL1	HP:0001928	Abnormality of coagulation
51750	RTEL1	HP:0000600	Abnormality of the pharynx
51750	RTEL1	HP:0001903	Anemia
51750	RTEL1	HP:0011358	Generalized hypopigmentation of hair
51750	RTEL1	HP:0011364	White hair
51750	RTEL1	HP:0000679	Taurodontia
51750	RTEL1	HP:0000670	Carious teeth
51750	RTEL1	HP:0000668	Hypodontia
51750	RTEL1	HP:0004322	Short stature
51750	RTEL1	HP:0004334	Dermal atrophy
51750	RTEL1	HP:0031950	Usual interstitial pneumonia
51750	RTEL1	HP:0004313	Decreased circulating antibody level
51750	RTEL1	HP:0012735	Cough
51750	RTEL1	HP:0012732	Anorectal anomaly
51750	RTEL1	HP:0012733	Macule
51750	RTEL1	HP:0000704	Periodontitis
51750	RTEL1	HP:0000819	Diabetes mellitus
51750	RTEL1	HP:0045051	Decreased DLCO
51750	RTEL1	HP:0030830	Crackles
51750	RTEL1	HP:0000975	Hyperhidrosis
51750	RTEL1	HP:0000982	Palmoplantar keratoderma
51750	RTEL1	HP:0000939	Osteoporosis
51750	RTEL1	HP:0008070	Sparse hair
51750	RTEL1	HP:0008065	Aplasia/Hypoplasia of the skin
51750	RTEL1	HP:0008066	Abnormal blistering of the skin
51750	RTEL1	HP:0001596	Alopecia
51750	RTEL1	HP:0031413	Short telomere length
51750	RTEL1	HP:0000252	Microcephaly
51750	RTEL1	HP:0002875	Exertional dyspnea
51750	RTEL1	HP:0002894	Neoplasm of the pancreas
51750	RTEL1	HP:0001508	Failure to thrive
51750	RTEL1	HP:0001511	Intrauterine growth retardation
51750	RTEL1	HP:0006530	Abnormal pulmonary interstitial morphology
51750	RTEL1	HP:0000365	Hearing impairment
51750	RTEL1	HP:0000327	Hypoplasia of the maxilla
51750	RTEL1	HP:0000499	Abnormal eyelash morphology
51750	RTEL1	HP:0000498	Blepharitis
51750	RTEL1	HP:0005374	Cellular immunodeficiency
51750	RTEL1	HP:0001744	Splenomegaly
51750	RTEL1	HP:0000518	Cataract
51750	RTEL1	HP:0000534	Abnormal eyebrow morphology
51750	RTEL1	HP:0001881	Abnormal leukocyte morphology
51750	RTEL1	HP:0001882	Leukopenia
51750	RTEL1	HP:0001874	Abnormality of neutrophils
51750	RTEL1	HP:0001873	Thrombocytopenia
51752	ERAP1	HP:0007256	Abnormal pyramidal sign
51752	ERAP1	HP:0010885	Avascular necrosis
51752	ERAP1	HP:0100820	Glomerulopathy
51752	ERAP1	HP:0001269	Hemiparesis
51752	ERAP1	HP:0001287	Meningitis
51752	ERAP1	HP:0001289	Confusion
51752	ERAP1	HP:0001288	Gait disturbance
51752	ERAP1	HP:0001250	Seizure
51752	ERAP1	HP:0001251	Ataxia
51752	ERAP1	HP:0002516	Increased intracranial pressure
51752	ERAP1	HP:0000083	Renal insufficiency
51752	ERAP1	HP:0001369	Arthritis
51752	ERAP1	HP:0001347	Hyperreflexia
51752	ERAP1	HP:0002637	Cerebral ischemia
51752	ERAP1	HP:0002633	Vasculitis
51752	ERAP1	HP:0000155	Oral ulcer
51752	ERAP1	HP:0001482	Subcutaneous nodule
51752	ERAP1	HP:0002716	Lymphadenopathy
51752	ERAP1	HP:0002024	Malabsorption
51752	ERAP1	HP:0002017	Nausea and vomiting
51752	ERAP1	HP:0002027	Abdominal pain
51752	ERAP1	HP:0003326	Myalgia
51752	ERAP1	HP:0002076	Migraine
51752	ERAP1	HP:0002039	Anorexia
51752	ERAP1	HP:0100584	Endocarditis
51752	ERAP1	HP:0002102	Pleuritis
51752	ERAP1	HP:0002113	Pulmonary infiltrates
51752	ERAP1	HP:0002105	Hemoptysis
51752	ERAP1	HP:0003401	Paresthesia
51752	ERAP1	HP:0002239	Gastrointestinal hemorrhage
51752	ERAP1	HP:0002202	Pleural effusion
51752	ERAP1	HP:0002204	Pulmonary embolism
51752	ERAP1	HP:0100796	Orchitis
51752	ERAP1	HP:0100758	Gangrene
51752	ERAP1	HP:0002383	Infectious encephalitis
51752	ERAP1	HP:0001061	Acne
51752	ERAP1	HP:0002376	Developmental regression
51752	ERAP1	HP:0002354	Memory impairment
51752	ERAP1	HP:0002321	Vertigo
51752	ERAP1	HP:0100653	Optic neuritis
51752	ERAP1	HP:0100654	Retrobulbar optic neuritis
51752	ERAP1	HP:0200034	Papule
51752	ERAP1	HP:0001097	Keratoconjunctivitis sicca
51752	ERAP1	HP:0100614	Myositis
51752	ERAP1	HP:0004936	Venous thrombosis
51752	ERAP1	HP:0006824	Cranial nerve paralysis
51752	ERAP1	HP:0000618	Blindness
51752	ERAP1	HP:0000613	Photophobia
51752	ERAP1	HP:0001945	Fever
51752	ERAP1	HP:0012649	Increased inflammatory response
51752	ERAP1	HP:0000737	Irritability
51752	ERAP1	HP:0000708	Atypical behavior
51752	ERAP1	HP:0004420	Arterial thrombosis
51752	ERAP1	HP:0100326	Immunologic hypersensitivity
51752	ERAP1	HP:0008066	Abnormal blistering of the skin
51752	ERAP1	HP:0002829	Arthralgia
51752	ERAP1	HP:0012378	Fatigue
51752	ERAP1	HP:0001658	Myocardial infarction
51752	ERAP1	HP:0001659	Aortic regurgitation
51752	ERAP1	HP:0001653	Mitral regurgitation
51752	ERAP1	HP:0001637	Abnormal myocardium morphology
51752	ERAP1	HP:0001733	Pancreatitis
51752	ERAP1	HP:0001701	Pericarditis
51752	ERAP1	HP:0000488	Retinopathy
51752	ERAP1	HP:0011107	Recurrent aphthous stomatitis
51752	ERAP1	HP:0001744	Splenomegaly
51752	ERAP1	HP:0000518	Cataract
51752	ERAP1	HP:0001824	Weight loss
51761	ATP8A2	HP:0001272	Cerebellar atrophy
51761	ATP8A2	HP:0001288	Gait disturbance
51761	ATP8A2	HP:0001250	Seizure
51761	ATP8A2	HP:0001252	Hypotonia
51761	ATP8A2	HP:0001251	Ataxia
51761	ATP8A2	HP:0001249	Intellectual disability
51761	ATP8A2	HP:0001260	Dysarthria
51761	ATP8A2	HP:0007371	Corpus callosum atrophy
51761	ATP8A2	HP:0002540	Inability to walk
51761	ATP8A2	HP:0001347	Hyperreflexia
51761	ATP8A2	HP:0000007	Autosomal recessive inheritance
51761	ATP8A2	HP:0002078	Truncal ataxia
51761	ATP8A2	HP:0002059	Cerebral atrophy
51761	ATP8A2	HP:0003577	Congenital onset
51761	ATP8A2	HP:0004322	Short stature
51761	ATP8A2	HP:0100021	Cerebral palsy
51761	ATP8A2	HP:0100022	Abnormality of movement
51761	ATP8A2	HP:0003202	Skeletal muscle atrophy
51761	ATP8A2	HP:0000486	Strabismus
51761	ATP8A2	HP:0000478	Abnormality of the eye
51761	ATP8A2	HP:0000518	Cataract
51761	ATP8A2	HP:0000504	Abnormality of vision
51763	INPP5K	HP:0001156	Brachydactyly
51763	INPP5K	HP:0001167	Abnormal finger morphology
51763	INPP5K	HP:0003701	Proximal muscle weakness
51763	INPP5K	HP:0001276	Hypertonia
51763	INPP5K	HP:0001270	Motor delay
51763	INPP5K	HP:0001288	Gait disturbance
51763	INPP5K	HP:0001284	Areflexia
51763	INPP5K	HP:0001250	Seizure
51763	INPP5K	HP:0001252	Hypotonia
51763	INPP5K	HP:0001251	Ataxia
51763	INPP5K	HP:0001249	Intellectual disability
51763	INPP5K	HP:0001265	Hyporeflexia
51763	INPP5K	HP:0001260	Dysarthria
51763	INPP5K	HP:0001263	Global developmental delay
51763	INPP5K	HP:0001257	Spasticity
51763	INPP5K	HP:0001385	Hip dysplasia
51763	INPP5K	HP:0001328	Specific learning disability
51763	INPP5K	HP:0002673	Coxa valga
51763	INPP5K	HP:0000007	Autosomal recessive inheritance
51763	INPP5K	HP:0002650	Scoliosis
51763	INPP5K	HP:0001321	Cerebellar hypoplasia
51763	INPP5K	HP:0000135	Hypogonadism
51763	INPP5K	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
51763	INPP5K	HP:0003307	Hyperlordosis
51763	INPP5K	HP:0003306	Spinal rigidity
51763	INPP5K	HP:0002093	Respiratory insufficiency
51763	INPP5K	HP:0002063	Rigidity
51763	INPP5K	HP:0002061	Lower limb spasticity
51763	INPP5K	HP:0003391	Gowers sign
51763	INPP5K	HP:0005916	Abnormal metacarpal morphology
51763	INPP5K	HP:0002167	Abnormality of speech or vocalization
51763	INPP5K	HP:0010547	Muscle flaccidity
51763	INPP5K	HP:0010508	Metatarsus valgus
51763	INPP5K	HP:0003593	Infantile onset
51763	INPP5K	HP:0003577	Congenital onset
51763	INPP5K	HP:0003552	Muscle stiffness
51763	INPP5K	HP:0003560	Muscular dystrophy
51763	INPP5K	HP:0003510	Severe short stature
51763	INPP5K	HP:0003676	Progressive
51763	INPP5K	HP:0002334	Abnormal cerebellar vermis morphology
51763	INPP5K	HP:0100660	Dyskinesia
51763	INPP5K	HP:0009830	Peripheral neuropathy
51763	INPP5K	HP:0007126	Proximal amyotrophy
51763	INPP5K	HP:0004279	Short palm
51763	INPP5K	HP:0000639	Nystagmus
51763	INPP5K	HP:0000648	Optic atrophy
51763	INPP5K	HP:0004322	Short stature
51763	INPP5K	HP:0000768	Pectus carinatum
51763	INPP5K	HP:0011463	Childhood onset
51763	INPP5K	HP:0009126	Increased adipose tissue
51763	INPP5K	HP:0005743	Avascular necrosis of the capital femoral epiphysis
51763	INPP5K	HP:0003198	Myopathy
51763	INPP5K	HP:0040081	Abnormal circulating creatine kinase concentration
51763	INPP5K	HP:0003236	Elevated circulating creatine kinase concentration
51763	INPP5K	HP:0003241	External genital hypoplasia
51763	INPP5K	HP:0003202	Skeletal muscle atrophy
51763	INPP5K	HP:0045040	Abnormal lactate dehydrogenase level
51763	INPP5K	HP:0002827	Hip dislocation
51763	INPP5K	HP:0002808	Kyphosis
51763	INPP5K	HP:0000252	Microcephaly
51763	INPP5K	HP:0030051	Tip-toe gait
51763	INPP5K	HP:0001618	Dysphonia
51763	INPP5K	HP:0000486	Strabismus
51763	INPP5K	HP:0012400	Abnormal circulating aldolase concentration
51763	INPP5K	HP:0000518	Cataract
51776	MAP3K20	HP:0001171	Split hand
51776	MAP3K20	HP:0002460	Distal muscle weakness
51776	MAP3K20	HP:0008619	Bilateral sensorineural hearing impairment
51776	MAP3K20	HP:0002421	Poor head control
51776	MAP3K20	HP:0003749	Pelvic girdle muscle weakness
51776	MAP3K20	HP:0003701	Proximal muscle weakness
51776	MAP3K20	HP:0001270	Motor delay
51776	MAP3K20	HP:0001284	Areflexia
51776	MAP3K20	HP:0001252	Hypotonia
51776	MAP3K20	HP:0002515	Waddling gait
51776	MAP3K20	HP:0003805	Rimmed vacuoles
51776	MAP3K20	HP:0003803	Type 1 muscle fiber predominance
51776	MAP3K20	HP:0001374	Congenital hip dislocation
51776	MAP3K20	HP:0001371	Flexion contracture
51776	MAP3K20	HP:0001388	Joint laxity
51776	MAP3K20	HP:0006159	Mesoaxial hand polydactyly
51776	MAP3K20	HP:0000007	Autosomal recessive inheritance
51776	MAP3K20	HP:0002650	Scoliosis
51776	MAP3K20	HP:0001315	Reduced tendon reflexes
51776	MAP3K20	HP:0008981	Calf muscle hypertrophy
51776	MAP3K20	HP:0002792	Reduced vital capacity
51776	MAP3K20	HP:0002751	Kyphoscoliosis
51776	MAP3K20	HP:0002747	Respiratory insufficiency due to muscle weakness
51776	MAP3K20	HP:0004692	4-5 toe syndactyly
51776	MAP3K20	HP:0002015	Dysphagia
51776	MAP3K20	HP:0003307	Hyperlordosis
51776	MAP3K20	HP:0003323	Progressive muscle weakness
51776	MAP3K20	HP:0003324	Generalized muscle weakness
51776	MAP3K20	HP:0011807	Type 1 muscle fiber atrophy
51776	MAP3K20	HP:0002086	Abnormality of the respiratory system
51776	MAP3K20	HP:0003394	Muscle spasm
51776	MAP3K20	HP:0002058	Myopathic facies
51776	MAP3K20	HP:0003388	Easy fatigability
51776	MAP3K20	HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
51776	MAP3K20	HP:0011842	Abnormal skeletal morphology
51776	MAP3K20	HP:0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
51776	MAP3K20	HP:0003577	Congenital onset
51776	MAP3K20	HP:0003555	Muscle fiber splitting
51776	MAP3K20	HP:0003547	Shoulder girdle muscle weakness
51776	MAP3K20	HP:0004878	Intercostal muscle weakness
51776	MAP3K20	HP:0003557	Increased variability in muscle fiber diameter
51776	MAP3K20	HP:0002205	Recurrent respiratory infections
51776	MAP3K20	HP:0010711	1-2 toe syndactyly
51776	MAP3K20	HP:0011968	Feeding difficulties
51776	MAP3K20	HP:0011951	Aspiration pneumonia
51776	MAP3K20	HP:0002360	Sleep disturbance
51776	MAP3K20	HP:0003687	Centrally nucleated skeletal muscle fibers
51776	MAP3K20	HP:0003677	Slowly progressive
51776	MAP3K20	HP:0002315	Headache
51776	MAP3K20	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux
51776	MAP3K20	HP:0000602	Ophthalmoplegia
51776	MAP3K20	HP:0009027	Foot dorsiflexor weakness
51776	MAP3K20	HP:0000678	Dental crowding
51776	MAP3K20	HP:0009004	Hypoplasia of the musculature
51776	MAP3K20	HP:0004396	Poor appetite
51776	MAP3K20	HP:0004347	Weakness of muscles of respiration
51776	MAP3K20	HP:0000767	Pectus excavatum
51776	MAP3K20	HP:0011470	Nasogastric tube feeding in infancy
51776	MAP3K20	HP:0012785	Flexion contracture of finger
51776	MAP3K20	HP:0011463	Childhood onset
51776	MAP3K20	HP:0010112	Mesoaxial foot polydactyly
51776	MAP3K20	HP:0005767	1-2 toe complete cutaneous syndactyly
51776	MAP3K20	HP:0003202	Skeletal muscle atrophy
51776	MAP3K20	HP:0003273	Hip contracture
51776	MAP3K20	HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe
51776	MAP3K20	HP:0100297	Increased endomysial connective tissue
51776	MAP3K20	HP:0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe
51776	MAP3K20	HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe
51776	MAP3K20	HP:0001597	Abnormality of the nail
51776	MAP3K20	HP:0000276	Long face
51776	MAP3K20	HP:0006466	Ankle flexion contracture
51776	MAP3K20	HP:0006380	Knee flexion contracture
51776	MAP3K20	HP:0002878	Respiratory failure
51776	MAP3K20	HP:0000218	High palate
51776	MAP3K20	HP:0001561	Polyhydramnios
51776	MAP3K20	HP:0001558	Decreased fetal movement
51776	MAP3K20	HP:0001508	Failure to thrive
51776	MAP3K20	HP:0012378	Fatigue
51776	MAP3K20	HP:0005216	Impaired mastication
51776	MAP3K20	HP:0001609	Hoarse voice
51776	MAP3K20	HP:0030192	Fatigable weakness of bulbar muscles
51776	MAP3K20	HP:0000347	Micrognathia
51776	MAP3K20	HP:0001648	Cor pulmonale
51776	MAP3K20	HP:0002987	Elbow flexion contracture
51776	MAP3K20	HP:0001627	Abnormal heart morphology
51776	MAP3K20	HP:0030319	Weakness of facial musculature
51776	MAP3K20	HP:0000407	Sensorineural hearing impairment
51776	MAP3K20	HP:0012416	Hypercapnia
51776	MAP3K20	HP:0012418	Hypoxemia
51776	MAP3K20	HP:0001762	Talipes equinovarus
51776	MAP3K20	HP:0001761	Pes cavus
51776	MAP3K20	HP:0001824	Weight loss
51776	MAP3K20	HP:0001839	Split foot
51778	MYOZ2	HP:0001279	Syncope
51778	MYOZ2	HP:0000006	Autosomal dominant inheritance
51778	MYOZ2	HP:0002094	Dyspnea
51778	MYOZ2	HP:0011713	Left bundle branch block
51778	MYOZ2	HP:0004756	Ventricular tachycardia
51778	MYOZ2	HP:0003621	Juvenile onset
51778	MYOZ2	HP:0001962	Palpitations
51778	MYOZ2	HP:0012664	Reduced left ventricular ejection fraction
51778	MYOZ2	HP:0012764	Orthopnea
51778	MYOZ2	HP:0005110	Atrial fibrillation
51778	MYOZ2	HP:0001670	Asymmetric septal hypertrophy
51778	MYOZ2	HP:0001645	Sudden cardiac death
51778	MYOZ2	HP:0001639	Hypertrophic cardiomyopathy
51778	MYOZ2	HP:0001712	Left ventricular hypertrophy
51780	KDM3B	HP:0001290	Generalized hypotonia
51780	KDM3B	HP:0001270	Motor delay
51780	KDM3B	HP:0001250	Seizure
51780	KDM3B	HP:0001249	Intellectual disability
51780	KDM3B	HP:0001385	Hip dysplasia
51780	KDM3B	HP:0001382	Joint hypermobility
51780	KDM3B	HP:0000047	Hypospadias
51780	KDM3B	HP:0000023	Inguinal hernia
51780	KDM3B	HP:0000028	Cryptorchidism
51780	KDM3B	HP:0008872	Feeding difficulties in infancy
51780	KDM3B	HP:0000006	Autosomal dominant inheritance
51780	KDM3B	HP:0000154	Wide mouth
51780	KDM3B	HP:0002171	Gliosis
51780	KDM3B	HP:0002247	Duodenal atresia
51780	KDM3B	HP:0007018	Attention deficit hyperactivity disorder
51780	KDM3B	HP:0007074	Thick corpus callosum
51780	KDM3B	HP:0009765	Low hanging columella
51780	KDM3B	HP:0004322	Short stature
51780	KDM3B	HP:0031936	Delayed ability to walk
51780	KDM3B	HP:0400004	Long ear
51780	KDM3B	HP:0000750	Delayed speech and language development
51780	KDM3B	HP:0000718	Aggressive behavior
51780	KDM3B	HP:0000729	Autistic behavior
51780	KDM3B	HP:0000776	Congenital diaphragmatic hernia
51780	KDM3B	HP:0030853	Heterotaxy
51780	KDM3B	HP:0011671	Interrupted inferior vena cava with azygous continuation
51780	KDM3B	HP:0000219	Thin upper lip vermilion
51780	KDM3B	HP:0001561	Polyhydramnios
51780	KDM3B	HP:0001537	Umbilical hernia
51780	KDM3B	HP:0000365	Hearing impairment
51780	KDM3B	HP:0001629	Ventricular septal defect
51780	KDM3B	HP:0001623	Breech presentation
51780	KDM3B	HP:0000307	Pointed chin
51780	KDM3B	HP:0000455	Broad nasal tip
51807	TUBA8	HP:0001274	Agenesis of corpus callosum
51807	TUBA8	HP:0001250	Seizure
51807	TUBA8	HP:0001265	Hyporeflexia
51807	TUBA8	HP:0001344	Absent speech
51807	TUBA8	HP:0000006	Autosomal dominant inheritance
51807	TUBA8	HP:0001319	Neonatal hypotonia
51807	TUBA8	HP:0002069	Bilateral tonic-clonic seizure
51807	TUBA8	HP:0002126	Polymicrogyria
51807	TUBA8	HP:0002365	Hypoplasia of the brainstem
51807	TUBA8	HP:0000609	Optic nerve hypoplasia
51807	TUBA8	HP:0011344	Severe global developmental delay
51807	TUBA8	HP:0006989	Dysplastic corpus callosum
51807	TUBA8	HP:0000707	Abnormality of the nervous system
51807	TUBA8	HP:0040185	Macrothrombocytopenia
51807	TUBA8	HP:0030048	Colpocephaly
51807	TUBA8	HP:0012469	Infantile spasms
51816	ADA2	HP:0001123	Visual field defect
51816	ADA2	HP:0009944	Partial duplication of thumb phalanx
51816	ADA2	HP:0001199	Triphalangeal thumb
51816	ADA2	HP:0008551	Microtia
51816	ADA2	HP:0003745	Sporadic
51816	ADA2	HP:0033505	Livedo reticularis
51816	ADA2	HP:0001297	Stroke
51816	ADA2	HP:0001270	Motor delay
51816	ADA2	HP:0001269	Hemiparesis
51816	ADA2	HP:0001268	Mental deterioration
51816	ADA2	HP:0001254	Lethargy
51816	ADA2	HP:0001250	Seizure
51816	ADA2	HP:0001251	Ataxia
51816	ADA2	HP:0001260	Dysarthria
51816	ADA2	HP:0001227	Abnormality of the thenar eminence
51816	ADA2	HP:0000085	Horseshoe kidney
51816	ADA2	HP:0025343	Lupus anticoagulant
51816	ADA2	HP:0001369	Arthritis
51816	ADA2	HP:0000047	Hypospadias
51816	ADA2	HP:0033832	Livedo
51816	ADA2	HP:0001324	Muscle weakness
51816	ADA2	HP:0001342	Cerebral hemorrhage
51816	ADA2	HP:0000007	Autosomal recessive inheritance
51816	ADA2	HP:0002669	Osteosarcoma
51816	ADA2	HP:0001337	Tremor
51816	ADA2	HP:0002633	Vasculitis
51816	ADA2	HP:0000185	Cleft soft palate
51816	ADA2	HP:0012133	Erythroid hypoplasia
51816	ADA2	HP:0000155	Oral ulcer
51816	ADA2	HP:0410030	Cleft lip
51816	ADA2	HP:0000119	Abnormality of the genitourinary system
51816	ADA2	HP:0000112	Nephropathy
51816	ADA2	HP:0001433	Hepatosplenomegaly
51816	ADA2	HP:0000104	Renal agenesis
51816	ADA2	HP:0001409	Portal hypertension
51816	ADA2	HP:0002719	Recurrent infections
51816	ADA2	HP:0002716	Lymphadenopathy
51816	ADA2	HP:0002721	Immunodeficiency
51816	ADA2	HP:0002027	Abdominal pain
51816	ADA2	HP:0003326	Myalgia
51816	ADA2	HP:0100545	Arterial stenosis
51816	ADA2	HP:0002076	Migraine
51816	ADA2	HP:0002072	Chorea
51816	ADA2	HP:0002040	Esophageal varix
51816	ADA2	HP:0100576	Amaurosis fugax
51816	ADA2	HP:0040276	Adenocarcinoma of the colon
51816	ADA2	HP:0002140	Ischemic stroke
51816	ADA2	HP:0011904	Persistence of hemoglobin F
51816	ADA2	HP:0002170	Intracranial hemorrhage
51816	ADA2	HP:0033260	Livedo racemosa
51816	ADA2	HP:0033261	Renal artery aneurysm
51816	ADA2	HP:0003593	Infantile onset
51816	ADA2	HP:0002240	Hepatomegaly
51816	ADA2	HP:0003565	Elevated erythrocyte sedimentation rate
51816	ADA2	HP:0011968	Feeding difficulties
51816	ADA2	HP:0010628	Facial palsy
51816	ADA2	HP:0004808	Acute myeloid leukemia
51816	ADA2	HP:0002381	Aphasia
51816	ADA2	HP:0002376	Developmental regression
51816	ADA2	HP:0003676	Progressive
51816	ADA2	HP:0002354	Memory impairment
51816	ADA2	HP:0002321	Vertigo
51816	ADA2	HP:0002315	Headache
51816	ADA2	HP:0100651	Type I diabetes mellitus
51816	ADA2	HP:0009830	Peripheral neuropathy
51816	ADA2	HP:0001075	Atrophic scars
51816	ADA2	HP:0200042	Skin ulcer
51816	ADA2	HP:0001087	Developmental glaucoma
51816	ADA2	HP:0020118	Radial artery aplasia
51816	ADA2	HP:0032154	Aphthous ulcer
51816	ADA2	HP:0009777	Absent thumb
51816	ADA2	HP:0009778	Short thumb
51816	ADA2	HP:0002301	Hemiplegia
51816	ADA2	HP:0003623	Neonatal onset
51816	ADA2	HP:0003621	Juvenile onset
51816	ADA2	HP:0003613	Antiphospholipid antibody positivity
51816	ADA2	HP:0005532	Macrocytic dyserythropoietic anemia
51816	ADA2	HP:0005528	Bone marrow hypocellularity
51816	ADA2	HP:0005523	Lymphoproliferative disorder
51816	ADA2	HP:0005518	Increased mean corpuscular volume
51816	ADA2	HP:0000648	Optic atrophy
51816	ADA2	HP:0001974	Leukocytosis
51816	ADA2	HP:0001945	Fever
51816	ADA2	HP:0001954	Recurrent fever
51816	ADA2	HP:0000602	Ophthalmoplegia
51816	ADA2	HP:0001903	Anemia
51816	ADA2	HP:0004322	Short stature
51816	ADA2	HP:0004313	Decreased circulating antibody level
51816	ADA2	HP:0006937	Impaired distal tactile sensation
51816	ADA2	HP:0000713	Agitation
51816	ADA2	HP:0000726	Dementia
51816	ADA2	HP:0000708	Atypical behavior
51816	ADA2	HP:0011463	Childhood onset
51816	ADA2	HP:0012758	Neurodevelopmental delay
51816	ADA2	HP:0000912	Sprengel anomaly
51816	ADA2	HP:0000872	Hashimoto thyroiditis
51816	ADA2	HP:0000822	Hypertension
51816	ADA2	HP:0030880	Raynaud phenomenon
51816	ADA2	HP:0000980	Pallor
51816	ADA2	HP:0000979	Purpura
51816	ADA2	HP:0000988	Skin rash
51816	ADA2	HP:0000965	Cutis marmorata
51816	ADA2	HP:0000964	Eczema
51816	ADA2	HP:0000286	Epicanthus
51816	ADA2	HP:0000294	Low anterior hairline
51816	ADA2	HP:0002817	Abnormality of the upper limb
51816	ADA2	HP:0002829	Arthralgia
51816	ADA2	HP:0000234	Abnormality of the head
51816	ADA2	HP:0000252	Microcephaly
51816	ADA2	HP:0012219	Erythema nodosum
51816	ADA2	HP:0000218	High palate
51816	ADA2	HP:0002863	Myelodysplasia
51816	ADA2	HP:0002850	Decreased circulating total IgM
51816	ADA2	HP:0001518	Small for gestational age
51816	ADA2	HP:0030053	Stiff skin
51816	ADA2	HP:0001510	Growth delay
51816	ADA2	HP:0002910	Elevated hepatic transaminase
51816	ADA2	HP:0000369	Low-set ears
51816	ADA2	HP:0001680	Coarctation of aorta
51816	ADA2	HP:0000347	Micrognathia
51816	ADA2	HP:0001647	Bicuspid aortic valve
51816	ADA2	HP:0000316	Hypertelorism
51816	ADA2	HP:0001644	Dilated cardiomyopathy
51816	ADA2	HP:0001629	Ventricular septal defect
51816	ADA2	HP:0001627	Abnormal heart morphology
51816	ADA2	HP:0001631	Atrial septal defect
51816	ADA2	HP:0012490	Panniculitis
51816	ADA2	HP:0001727	Thromboembolic stroke
51816	ADA2	HP:0000403	Recurrent otitis media
51816	ADA2	HP:0005280	Depressed nasal bridge
51816	ADA2	HP:0000486	Strabismus
51816	ADA2	HP:0001790	Nonimmune hydrops fetalis
51816	ADA2	HP:0000470	Short neck
51816	ADA2	HP:0011108	Recurrent sinusitis
51816	ADA2	HP:0000465	Webbed neck
51816	ADA2	HP:0030270	Elevated red cell adenosine deaminase level
51816	ADA2	HP:0012410	Pure red cell aplasia
51816	ADA2	HP:0001744	Splenomegaly
51816	ADA2	HP:0000431	Wide nasal bridge
51816	ADA2	HP:0011276	Vascular skin abnormality
51816	ADA2	HP:0006758	Malignant genitourinary tract tumor
51816	ADA2	HP:0000519	Developmental cataract
51816	ADA2	HP:0000508	Ptosis
51816	ADA2	HP:0030351	Urticarial plaque
51816	ADA2	HP:0011227	Elevated circulating C-reactive protein concentration
51816	ADA2	HP:0001894	Thrombocytosis
51816	ADA2	HP:0001888	Lymphopenia
51816	ADA2	HP:0001896	Reticulocytopenia
51816	ADA2	HP:0001895	Normochromic anemia
51816	ADA2	HP:0001882	Leukopenia
51816	ADA2	HP:0001873	Thrombocytopenia
51816	ADA2	HP:0001876	Pancytopenia
51816	ADA2	HP:0001875	Neutropenia
53335	BCL11A	HP:0001249	Intellectual disability
53335	BCL11A	HP:0001263	Global developmental delay
53335	BCL11A	HP:0001382	Joint hypermobility
53335	BCL11A	HP:0000006	Autosomal dominant inheritance
53335	BCL11A	HP:0002027	Abdominal pain
53335	BCL11A	HP:0011800	Midface retrusion
53335	BCL11A	HP:0002078	Truncal ataxia
53335	BCL11A	HP:0002070	Limb ataxia
53335	BCL11A	HP:0004611	Anterior concavity of thoracic vertebrae
53335	BCL11A	HP:0002136	Broad-based gait
53335	BCL11A	HP:0002113	Pulmonary infiltrates
53335	BCL11A	HP:0011904	Persistence of hemoglobin F
53335	BCL11A	HP:0003577	Congenital onset
53335	BCL11A	HP:0100716	Self-injurious behavior
53335	BCL11A	HP:0008346	Increased red cell sickling tendency
53335	BCL11A	HP:0004840	Hypochromic microcytic anemia
53335	BCL11A	HP:0002360	Sleep disturbance
53335	BCL11A	HP:0032169	Severe infection
53335	BCL11A	HP:0006855	Cerebellar vermis atrophy
53335	BCL11A	HP:0001923	Reticulocytosis
53335	BCL11A	HP:0004322	Short stature
53335	BCL11A	HP:0031936	Delayed ability to walk
53335	BCL11A	HP:0100023	Recurrent hand flapping
53335	BCL11A	HP:0000729	Autistic behavior
53335	BCL11A	HP:0045047	HbS hemoglobin
53335	BCL11A	HP:0000286	Epicanthus
53335	BCL11A	HP:0000278	Retrognathia
53335	BCL11A	HP:0002829	Arthralgia
53335	BCL11A	HP:0000252	Microcephaly
53335	BCL11A	HP:0000219	Thin upper lip vermilion
53335	BCL11A	HP:0000232	Everted lower lip vermilion
53335	BCL11A	HP:0000378	Cupped ear
53335	BCL11A	HP:0000396	Overfolded helix
53335	BCL11A	HP:0000369	Low-set ears
53335	BCL11A	HP:0000347	Micrognathia
53335	BCL11A	HP:0005274	Prominent nasal tip
53335	BCL11A	HP:0000486	Strabismus
53335	BCL11A	HP:0000494	Downslanted palpebral fissures
53335	BCL11A	HP:0000488	Retinopathy
53335	BCL11A	HP:0000463	Anteverted nares
53335	BCL11A	HP:0001746	Asplenia
53335	BCL11A	HP:0001744	Splenomegaly
53335	BCL11A	HP:0000592	Blue sclerae
53405	CLIC5	HP:0008568	Vestibular areflexia
53405	CLIC5	HP:0000007	Autosomal recessive inheritance
53405	CLIC5	HP:0011463	Childhood onset
53405	CLIC5	HP:0000407	Sensorineural hearing impairment
53405	CLIC5	HP:0001751	Abnormal vestibular function
53616	ADAM22	HP:0001290	Generalized hypotonia
53616	ADAM22	HP:0001250	Seizure
53616	ADAM22	HP:0001257	Spasticity
53616	ADAM22	HP:0007334	Bilateral tonic-clonic seizure with focal onset
53616	ADAM22	HP:0002505	Loss of ambulation
53616	ADAM22	HP:0000007	Autosomal recessive inheritance
53616	ADAM22	HP:0000194	Open mouth
53616	ADAM22	HP:0002059	Cerebral atrophy
53616	ADAM22	HP:0002104	Apnea
53616	ADAM22	HP:0002187	Intellectual disability, profound
53616	ADAM22	HP:0002266	Focal clonic seizure
53616	ADAM22	HP:0003593	Infantile onset
53616	ADAM22	HP:0200134	Epileptic encephalopathy
53616	ADAM22	HP:0000648	Optic atrophy
53616	ADAM22	HP:0000218	High palate
53616	ADAM22	HP:0000341	Narrow forehead
53616	ADAM22	HP:0012471	Thick vermilion border
53616	ADAM22	HP:0005484	Secondary microcephaly
53630	BCO1	HP:0000006	Autosomal dominant inheritance
53630	BCO1	HP:0004905	Low levels of vitamin A
53630	BCO1	HP:0000951	Abnormality of the skin
53834	FGFRL1	HP:0001177	Preaxial hand polydactyly
53834	FGFRL1	HP:0001171	Split hand
53834	FGFRL1	HP:0009918	Ectopia pupillae
53834	FGFRL1	HP:0010864	Intellectual disability, severe
53834	FGFRL1	HP:0003745	Sporadic
53834	FGFRL1	HP:0001290	Generalized hypotonia
53834	FGFRL1	HP:0001274	Agenesis of corpus callosum
53834	FGFRL1	HP:0001250	Seizure
53834	FGFRL1	HP:0001263	Global developmental delay
53834	FGFRL1	HP:0007385	Aplasia cutis congenita of scalp
53834	FGFRL1	HP:0002553	Highly arched eyebrow
53834	FGFRL1	HP:0001385	Hip dysplasia
53834	FGFRL1	HP:0000047	Hypospadias
53834	FGFRL1	HP:0000028	Cryptorchidism
53834	FGFRL1	HP:0008850	Severe postnatal growth retardation
53834	FGFRL1	HP:0001331	Absent septum pellucidum
53834	FGFRL1	HP:0000006	Autosomal dominant inheritance
53834	FGFRL1	HP:0002650	Scoliosis
53834	FGFRL1	HP:0000188	Short upper lip
53834	FGFRL1	HP:0000175	Cleft palate
53834	FGFRL1	HP:0000151	Aplasia of the uterus
53834	FGFRL1	HP:0000119	Abnormality of the genitourinary system
53834	FGFRL1	HP:0002750	Delayed skeletal maturation
53834	FGFRL1	HP:0002714	Downturned corners of mouth
53834	FGFRL1	HP:0002721	Immunodeficiency
53834	FGFRL1	HP:0002020	Gastroesophageal reflux
53834	FGFRL1	HP:0002011	Morphological central nervous system abnormality
53834	FGFRL1	HP:0003312	Abnormal form of the vertebral bodies
53834	FGFRL1	HP:0002057	Prominent glabella
53834	FGFRL1	HP:0002144	Tethered cord
53834	FGFRL1	HP:0002119	Ventriculomegaly
53834	FGFRL1	HP:0004794	Malrotation of small bowel
53834	FGFRL1	HP:0002162	Low posterior hairline
53834	FGFRL1	HP:0011863	Abnormal sternal ossification
53834	FGFRL1	HP:0002389	Cavum septum pellucidum
53834	FGFRL1	HP:0001028	Hemangioma
53834	FGFRL1	HP:0002353	EEG abnormality
53834	FGFRL1	HP:0001080	Biliary tract abnormality
53834	FGFRL1	HP:0007109	Periventricular cysts
53834	FGFRL1	HP:0009778	Short thumb
53834	FGFRL1	HP:0000639	Nystagmus
53834	FGFRL1	HP:0000612	Iris coloboma
53834	FGFRL1	HP:0000668	Hypodontia
53834	FGFRL1	HP:0004322	Short stature
53834	FGFRL1	HP:0030680	Abnormality of cardiovascular system morphology
53834	FGFRL1	HP:0009193	Pseudoepiphyses of the metacarpals
53834	FGFRL1	HP:0010109	Short hallux
53834	FGFRL1	HP:0003199	Decreased muscle mass
53834	FGFRL1	HP:0000902	Rib fusion
53834	FGFRL1	HP:0004484	Craniofacial asymmetry
53834	FGFRL1	HP:0004467	Preauricular pit
53834	FGFRL1	HP:0000826	Precocious puberty
53834	FGFRL1	HP:0000954	Single transverse palmar crease
53834	FGFRL1	HP:0000960	Sacral dimple
53834	FGFRL1	HP:0000286	Epicanthus
53834	FGFRL1	HP:0002827	Hip dislocation
53834	FGFRL1	HP:0002808	Kyphosis
53834	FGFRL1	HP:0000238	Hydrocephalus
53834	FGFRL1	HP:0000252	Microcephaly
53834	FGFRL1	HP:0001558	Decreased fetal movement
53834	FGFRL1	HP:0000202	Orofacial cleft
53834	FGFRL1	HP:0000204	Cleft upper lip
53834	FGFRL1	HP:0001508	Failure to thrive
53834	FGFRL1	HP:0001518	Small for gestational age
53834	FGFRL1	HP:0001511	Intrauterine growth retardation
53834	FGFRL1	HP:0001510	Growth delay
53834	FGFRL1	HP:0000384	Preauricular skin tag
53834	FGFRL1	HP:0000377	Abnormal pinna morphology
53834	FGFRL1	HP:0002948	Vertebral fusion
53834	FGFRL1	HP:0000348	High forehead
53834	FGFRL1	HP:0000347	Micrognathia
53834	FGFRL1	HP:0000316	Hypertelorism
53834	FGFRL1	HP:0002974	Radioulnar synostosis
53834	FGFRL1	HP:0000322	Short philtrum
53834	FGFRL1	HP:0001629	Ventricular septal defect
53834	FGFRL1	HP:0001631	Atrial septal defect
53834	FGFRL1	HP:0006655	Rib segmentation abnormalities
53834	FGFRL1	HP:0000407	Sensorineural hearing impairment
53834	FGFRL1	HP:0000405	Conductive hearing impairment
53834	FGFRL1	HP:0000402	Stenosis of the external auditory canal
53834	FGFRL1	HP:0000486	Strabismus
53834	FGFRL1	HP:0000465	Webbed neck
53834	FGFRL1	HP:0000444	Convex nasal ridge
53834	FGFRL1	HP:0001747	Accessory spleen
53834	FGFRL1	HP:0001762	Talipes equinovarus
53834	FGFRL1	HP:0000431	Wide nasal bridge
53834	FGFRL1	HP:0001841	Preaxial foot polydactyly
53834	FGFRL1	HP:0001840	Metatarsus adductus
53834	FGFRL1	HP:0000520	Proptosis
53834	FGFRL1	HP:0000508	Ptosis
53834	FGFRL1	HP:0001812	Hyperconvex fingernails
53834	FGFRL1	HP:0000558	Rieger anomaly
53904	MYO3A	HP:0000007	Autosomal recessive inheritance
53904	MYO3A	HP:0000408	Progressive sensorineural hearing impairment
53904	MYO3A	HP:0001730	Progressive hearing impairment
54084	TSPEAR	HP:0000007	Autosomal recessive inheritance
54084	TSPEAR	HP:0003577	Congenital onset
54084	TSPEAR	HP:0002209	Sparse scalp hair
54084	TSPEAR	HP:0010763	Low insertion of columella
54084	TSPEAR	HP:0000698	Conical tooth
54084	TSPEAR	HP:0000677	Oligodontia
54084	TSPEAR	HP:0000668	Hypodontia
54084	TSPEAR	HP:0000966	Hypohidrosis
54084	TSPEAR	HP:0000252	Microcephaly
54084	TSPEAR	HP:0000218	High palate
54084	TSPEAR	HP:0000364	Hearing abnormality
54084	TSPEAR	HP:0000369	Low-set ears
54084	TSPEAR	HP:0000341	Narrow forehead
54084	TSPEAR	HP:0000300	Oval face
54084	TSPEAR	HP:0000407	Sensorineural hearing impairment
54084	TSPEAR	HP:0012471	Thick vermilion border
54084	TSPEAR	HP:0000494	Downslanted palpebral fissures
54101	RIPK4	HP:0001159	Syndactyly
54101	RIPK4	HP:0008551	Microtia
54101	RIPK4	HP:0001270	Motor delay
54101	RIPK4	HP:0001251	Ataxia
54101	RIPK4	HP:0001249	Intellectual disability
54101	RIPK4	HP:0006101	Finger syndactyly
54101	RIPK4	HP:0007418	Alopecia totalis
54101	RIPK4	HP:0100840	Aplasia/Hypoplasia of the eyebrow
54101	RIPK4	HP:0008689	Bilateral cryptorchidism
54101	RIPK4	HP:0008678	Renal hypoplasia/aplasia
54101	RIPK4	HP:0000086	Ectopic kidney
54101	RIPK4	HP:0000062	Ambiguous genitalia
54101	RIPK4	HP:0000059	Hypoplastic labia majora
54101	RIPK4	HP:0000072	Hydroureter
54101	RIPK4	HP:0001371	Flexion contracture
54101	RIPK4	HP:0000042	Absent external genitalia
54101	RIPK4	HP:0000054	Micropenis
54101	RIPK4	HP:0000050	Hypoplastic male external genitalia
54101	RIPK4	HP:0000023	Inguinal hernia
54101	RIPK4	HP:0000007	Autosomal recessive inheritance
54101	RIPK4	HP:0003974	Absent radius
54101	RIPK4	HP:0000190	Abnormal oral frenulum morphology
54101	RIPK4	HP:0012165	Oligodactyly
54101	RIPK4	HP:0000161	Median cleft lip
54101	RIPK4	HP:0000160	Narrow mouth
54101	RIPK4	HP:0000175	Cleft palate
54101	RIPK4	HP:0006349	Agenesis of permanent teeth
54101	RIPK4	HP:0032527	Inferiorly positioned umbilicus
54101	RIPK4	HP:0002710	Commissural lip pit
54101	RIPK4	HP:0002025	Anal stenosis
54101	RIPK4	HP:0002023	Anal atresia
54101	RIPK4	HP:0002006	Facial cleft
54101	RIPK4	HP:0010489	Absent palmar crease
54101	RIPK4	HP:0010609	Skin tags
54101	RIPK4	HP:0002164	Nail dysplasia
54101	RIPK4	HP:0004704	Short fifth metatarsal
54101	RIPK4	HP:0003577	Congenital onset
54101	RIPK4	HP:0002223	Absent eyebrow
54101	RIPK4	HP:0200102	Sparse or absent eyelashes
54101	RIPK4	HP:0002212	Curly hair
54101	RIPK4	HP:0002209	Sparse scalp hair
54101	RIPK4	HP:0100750	Atelectasis
54101	RIPK4	HP:0200160	Agenesis of maxillary incisor
54101	RIPK4	HP:0001060	Axillary pterygium
54101	RIPK4	HP:0001059	Pterygium
54101	RIPK4	HP:0009826	Limb undergrowth
54101	RIPK4	HP:0009803	Short phalanx of finger
54101	RIPK4	HP:0200041	Skin erosion
54101	RIPK4	HP:0009777	Absent thumb
54101	RIPK4	HP:0009778	Short thumb
54101	RIPK4	HP:0009755	Ankyloblepharon
54101	RIPK4	HP:0009756	Popliteal pterygium
54101	RIPK4	HP:0000625	Eyelid coloboma
54101	RIPK4	HP:0010049	Short metacarpal
54101	RIPK4	HP:0000656	Ectropion
54101	RIPK4	HP:0000652	Lower eyelid coloboma
54101	RIPK4	HP:0030680	Abnormality of cardiovascular system morphology
54101	RIPK4	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
54101	RIPK4	HP:0003031	Ulnar bowing
54101	RIPK4	HP:0011461	Fetal onset
54101	RIPK4	HP:0003196	Short nose
54101	RIPK4	HP:0000882	Hypoplastic scapulae
54101	RIPK4	HP:0012804	Corneal ulceration
54101	RIPK4	HP:0000813	Bicornuate uterus
54101	RIPK4	HP:0010297	Bifid tongue
54101	RIPK4	HP:0010285	Oral synechia
54101	RIPK4	HP:0000958	Dry skin
54101	RIPK4	HP:0000966	Hypohidrosis
54101	RIPK4	HP:0100240	Synostosis of joints
54101	RIPK4	HP:0000298	Mask-like facies
54101	RIPK4	HP:0001596	Alopecia
54101	RIPK4	HP:0007759	Opacification of the corneal stroma
54101	RIPK4	HP:0002804	Arthrogryposis multiplex congenita
54101	RIPK4	HP:0000252	Microcephaly
54101	RIPK4	HP:0030004	Cicatricial lagophthalmos
54101	RIPK4	HP:0001558	Decreased fetal movement
54101	RIPK4	HP:0030011	Imperforate hymen
54101	RIPK4	HP:0001539	Omphalocele
54101	RIPK4	HP:0002866	Hypoplastic iliac wing
54101	RIPK4	HP:0000204	Cleft upper lip
54101	RIPK4	HP:0001511	Intrauterine growth retardation
54101	RIPK4	HP:0000378	Cupped ear
54101	RIPK4	HP:0000369	Low-set ears
54101	RIPK4	HP:0000347	Micrognathia
54101	RIPK4	HP:0000316	Hypertelorism
54101	RIPK4	HP:0000327	Hypoplasia of the maxilla
54101	RIPK4	HP:0001655	Patent foramen ovale
54101	RIPK4	HP:0007957	Corneal opacity
54101	RIPK4	HP:0006610	Wide intermamillary distance
54101	RIPK4	HP:0005280	Depressed nasal bridge
54101	RIPK4	HP:0001792	Small nail
54101	RIPK4	HP:0000470	Short neck
54101	RIPK4	HP:0001798	Anonychia
54101	RIPK4	HP:0001770	Toe syndactyly
54101	RIPK4	HP:0001762	Talipes equinovarus
54101	RIPK4	HP:0000430	Underdeveloped nasal alae
54101	RIPK4	HP:0001800	Hypoplastic toenails
54101	RIPK4	HP:0000582	Upslanted palpebral fissure
54101	RIPK4	HP:0000581	Blepharophimosis
54101	RIPK4	HP:0011224	Ablepharon
54101	RIPK4	HP:0000561	Absent eyelashes
54101	RIPK4	HP:0000568	Microphthalmia
54101	RIPK4	HP:0001883	Talipes
54112	GPR88	HP:0002465	Poor speech
54112	GPR88	HP:0002457	Abnormal head movements
54112	GPR88	HP:0001249	Intellectual disability
54112	GPR88	HP:0001263	Global developmental delay
54112	GPR88	HP:0000007	Autosomal recessive inheritance
54112	GPR88	HP:0002072	Chorea
54112	GPR88	HP:0004305	Involuntary movements
54187	NANS	HP:0020206	Simple ear
54187	NANS	HP:0010864	Intellectual disability, severe
54187	NANS	HP:0001290	Generalized hypotonia
54187	NANS	HP:0001270	Motor delay
54187	NANS	HP:0001250	Seizure
54187	NANS	HP:0001252	Hypotonia
54187	NANS	HP:0001251	Ataxia
54187	NANS	HP:0001249	Intellectual disability
54187	NANS	HP:0100864	Short femoral neck
54187	NANS	HP:0001388	Joint laxity
54187	NANS	HP:0000007	Autosomal recessive inheritance
54187	NANS	HP:0002651	Spondyloepimetaphyseal dysplasia
54187	NANS	HP:0000179	Thick lower lip vermilion
54187	NANS	HP:0001498	Carpal bone hypoplasia
54187	NANS	HP:0003301	Irregular vertebral endplates
54187	NANS	HP:0002079	Hypoplasia of the corpus callosum
54187	NANS	HP:0002059	Cerebral atrophy
54187	NANS	HP:0002119	Ventriculomegaly
54187	NANS	HP:0002162	Low posterior hairline
54187	NANS	HP:0010585	Small epiphyses
54187	NANS	HP:0010582	Irregular epiphyses
54187	NANS	HP:0001007	Hirsutism
54187	NANS	HP:0004233	Advanced ossification of carpal bones
54187	NANS	HP:0000639	Nystagmus
54187	NANS	HP:0012697	Small basal ganglia
54187	NANS	HP:0012650	Perisylvian polymicrogyria
54187	NANS	HP:0000664	Synophrys
54187	NANS	HP:0004322	Short stature
54187	NANS	HP:0003085	Long fibula
54187	NANS	HP:0003015	Flared metaphysis
54187	NANS	HP:0003025	Metaphyseal irregularity
54187	NANS	HP:0000926	Platyspondyly
54187	NANS	HP:0003180	Flat acetabular roof
54187	NANS	HP:0034295	Reduced cerebral white matter volume
54187	NANS	HP:0000286	Epicanthus
54187	NANS	HP:0000280	Coarse facial features
54187	NANS	HP:0000294	Low anterior hairline
54187	NANS	HP:0005121	Posterior scalloping of vertebral bodies
54187	NANS	HP:0000252	Microcephaly
54187	NANS	HP:0000248	Brachycephaly
54187	NANS	HP:0002868	Narrow iliac wing
54187	NANS	HP:0031367	Metaphyseal striations
54187	NANS	HP:0005280	Depressed nasal bridge
54187	NANS	HP:0000486	Strabismus
54187	NANS	HP:0012471	Thick vermilion border
54187	NANS	HP:0000470	Short neck
54187	NANS	HP:0000445	Wide nose
54187	NANS	HP:0000414	Bulbous nose
54187	NANS	HP:0011220	Prominent forehead
54205	CYCS	HP:0000006	Autosomal dominant inheritance
54205	CYCS	HP:0011876	Abnormal platelet volume
54205	CYCS	HP:0001873	Thrombocytopenia
54209	TREM2	HP:0002488	Acute leukemia
54209	TREM2	HP:0002493	Upper motor neuron dysfunction
54209	TREM2	HP:0002465	Poor speech
54209	TREM2	HP:0002463	Language impairment
54209	TREM2	HP:0003791	Deposits immunoreactive to beta-amyloid protein
54209	TREM2	HP:0002476	Primitive reflex
54209	TREM2	HP:0002442	Dyscalculia
54209	TREM2	HP:0002446	Astrocytosis
54209	TREM2	HP:0007305	CNS demyelination
54209	TREM2	HP:0002427	Expressive aphasia
54209	TREM2	HP:0001297	Stroke
54209	TREM2	HP:0001276	Hypertonia
54209	TREM2	HP:0001268	Mental deterioration
54209	TREM2	HP:0001289	Confusion
54209	TREM2	HP:0001288	Gait disturbance
54209	TREM2	HP:0001250	Seizure
54209	TREM2	HP:0001251	Ataxia
54209	TREM2	HP:0001249	Intellectual disability
54209	TREM2	HP:0001257	Spasticity
54209	TREM2	HP:0007373	Motor neuron atrophy
54209	TREM2	HP:0007354	Amyotrophic lateral sclerosis
54209	TREM2	HP:0002514	Cerebral calcification
54209	TREM2	HP:0002500	Abnormal cerebral white matter morphology
54209	TREM2	HP:0012062	Bone cyst
54209	TREM2	HP:0001376	Limitation of joint mobility
54209	TREM2	HP:0001347	Hyperreflexia
54209	TREM2	HP:0000007	Autosomal recessive inheritance
54209	TREM2	HP:0001336	Myoclonus
54209	TREM2	HP:0002652	Skeletal dysplasia
54209	TREM2	HP:0002653	Bone pain
54209	TREM2	HP:0001300	Parkinsonism
54209	TREM2	HP:0025425	Laryngospasm
54209	TREM2	HP:0002795	Abnormal respiratory system physiology
54209	TREM2	HP:0002756	Pathologic fracture
54209	TREM2	HP:0002017	Nausea and vomiting
54209	TREM2	HP:0003324	Generalized muscle weakness
54209	TREM2	HP:0002094	Dyspnea
54209	TREM2	HP:0002069	Bilateral tonic-clonic seizure
54209	TREM2	HP:0003394	Muscle spasm
54209	TREM2	HP:0002079	Hypoplasia of the corpus callosum
54209	TREM2	HP:0002072	Chorea
54209	TREM2	HP:0002071	Abnormality of extrapyramidal motor function
54209	TREM2	HP:0005930	Abnormal epiphysis morphology
54209	TREM2	HP:0002145	Frontotemporal dementia
54209	TREM2	HP:0003470	Paralysis
54209	TREM2	HP:0003487	Babinski sign
54209	TREM2	HP:0002120	Cerebral cortical atrophy
54209	TREM2	HP:0002119	Ventriculomegaly
54209	TREM2	HP:0002135	Basal ganglia calcification
54209	TREM2	HP:0002186	Apraxia
54209	TREM2	HP:0002185	Neurofibrillary tangles
54209	TREM2	HP:0002180	Neurodegeneration
54209	TREM2	HP:0002167	Abnormality of speech or vocalization
54209	TREM2	HP:0010529	Echolalia
54209	TREM2	HP:0010522	Dyslexia
54209	TREM2	HP:0010526	Dysgraphia
54209	TREM2	HP:0010525	Finger agnosia
54209	TREM2	HP:0010524	Agnosia
54209	TREM2	HP:0010523	Alexia
54209	TREM2	HP:0002380	Fasciculations
54209	TREM2	HP:0002381	Aphasia
54209	TREM2	HP:0002366	Abnormal lower motor neuron morphology
54209	TREM2	HP:0002376	Developmental regression
54209	TREM2	HP:0002371	Loss of speech
54209	TREM2	HP:0002340	Caudate atrophy
54209	TREM2	HP:0002353	EEG abnormality
54209	TREM2	HP:0002354	Memory impairment
54209	TREM2	HP:0002352	Leukoencephalopathy
54209	TREM2	HP:0007112	Temporal cortical atrophy
54209	TREM2	HP:0002300	Mutism
54209	TREM2	HP:0006892	Frontotemporal cerebral atrophy
54209	TREM2	HP:0012690	T2 hypointense thalamus
54209	TREM2	HP:0012671	Abulia
54209	TREM2	HP:0012658	Abnormal brain FDG positron emission tomography
54209	TREM2	HP:0000657	Oculomotor apraxia
54209	TREM2	HP:0006977	Deficit in grammar
54209	TREM2	HP:0030692	Brain neoplasm
54209	TREM2	HP:0004349	Reduced bone mineral density
54209	TREM2	HP:0000757	Lack of insight
54209	TREM2	HP:0000751	Personality changes
54209	TREM2	HP:0100022	Abnormality of movement
54209	TREM2	HP:0000738	Hallucinations
54209	TREM2	HP:0000737	Irritability
54209	TREM2	HP:0000739	Anxiety
54209	TREM2	HP:0000734	Disinhibition
54209	TREM2	HP:0000733	Abnormal repetitive mannerisms
54209	TREM2	HP:0012719	Functional abnormality of the gastrointestinal tract
54209	TREM2	HP:0000741	Apathy
54209	TREM2	HP:0000719	Inappropriate behavior
54209	TREM2	HP:0000716	Depression
54209	TREM2	HP:0000718	Aggressive behavior
54209	TREM2	HP:0000712	Emotional lability
54209	TREM2	HP:0000711	Restlessness
54209	TREM2	HP:0000713	Agitation
54209	TREM2	HP:0000710	Hyperorality
54209	TREM2	HP:0000727	Frontal lobe dementia
54209	TREM2	HP:0000726	Dementia
54209	TREM2	HP:0000723	Restrictive behavior
54209	TREM2	HP:0000709	Psychosis
54209	TREM2	HP:0000708	Atypical behavior
54209	TREM2	HP:0011446	Abnormality of higher mental function
54209	TREM2	HP:0009124	Abnormal adipose tissue morphology
54209	TREM2	HP:0012759	Neurodevelopmental abnormality
54209	TREM2	HP:0030784	Anomic aphasia
54209	TREM2	HP:0100315	Lewy bodies
54209	TREM2	HP:0003202	Skeletal muscle atrophy
54209	TREM2	HP:0100256	Senile plaques
54209	TREM2	HP:0000938	Osteopenia
54209	TREM2	HP:0002829	Arthralgia
54209	TREM2	HP:0000238	Hydrocephalus
54209	TREM2	HP:0000217	Xerostomia
54209	TREM2	HP:0002878	Respiratory failure
54209	TREM2	HP:0012378	Fatigue
54209	TREM2	HP:0030196	Fatigable weakness of respiratory muscles
54209	TREM2	HP:0030195	Fatigable weakness of swallowing muscles
54209	TREM2	HP:0030192	Fatigable weakness of bulbar muscles
54209	TREM2	HP:0030213	Emotional blunting
54209	TREM2	HP:0030212	Collectionism
54209	TREM2	HP:0030219	Semantic dementia
54209	TREM2	HP:0030223	Manifestations of perseverative thought or action
54209	TREM2	HP:0030222	Visual agnosia
54209	TREM2	HP:0012444	Brain atrophy
54209	TREM2	HP:0000474	Thickened nuchal skin fold
54209	TREM2	HP:0012433	Abnormal social behavior
54209	TREM2	HP:0000504	Abnormality of vision
54209	TREM2	HP:0011204	EEG with continuous slow activity
54209	TREM2	HP:0030391	Spoken word recognition deficit
54209	TREM2	HP:0012531	Pain
54332	GDAP1	HP:0001178	Ulnar claw
54332	GDAP1	HP:0001171	Split hand
54332	GDAP1	HP:0002495	Impaired vibratory sensation
54332	GDAP1	HP:0002460	Distal muscle weakness
54332	GDAP1	HP:0007328	Impaired pain sensation
54332	GDAP1	HP:0007267	Chronic axonal neuropathy
54332	GDAP1	HP:0007249	Decreased number of small peripheral myelinated nerve fibers
54332	GDAP1	HP:0007230	Decreased distal sensory nerve action potential
54332	GDAP1	HP:0007233	Clusters of axonal regeneration
54332	GDAP1	HP:0003731	Quadriceps muscle weakness
54332	GDAP1	HP:0003701	Proximal muscle weakness
54332	GDAP1	HP:0001270	Motor delay
54332	GDAP1	HP:0001288	Gait disturbance
54332	GDAP1	HP:0001284	Areflexia
54332	GDAP1	HP:0001265	Hyporeflexia
54332	GDAP1	HP:0006064	Limited interphalangeal movement
54332	GDAP1	HP:0002540	Inability to walk
54332	GDAP1	HP:0002505	Loss of ambulation
54332	GDAP1	HP:0012078	Motor conduction block
54332	GDAP1	HP:0001371	Flexion contracture
54332	GDAP1	HP:0000007	Autosomal recessive inheritance
54332	GDAP1	HP:0000006	Autosomal dominant inheritance
54332	GDAP1	HP:0002650	Scoliosis
54332	GDAP1	HP:0001315	Reduced tendon reflexes
54332	GDAP1	HP:0008994	Proximal muscle weakness in lower limbs
54332	GDAP1	HP:0008997	Proximal muscle weakness in upper limbs
54332	GDAP1	HP:0008959	Distal upper limb muscle weakness
54332	GDAP1	HP:0008954	Intrinsic hand muscle atrophy
54332	GDAP1	HP:0008935	Generalized neonatal hypotonia
54332	GDAP1	HP:0006248	Limited wrist movement
54332	GDAP1	HP:0002751	Kyphoscoliosis
54332	GDAP1	HP:0002091	Restrictive ventilatory defect
54332	GDAP1	HP:0003378	Axonal degeneration/regeneration
54332	GDAP1	HP:0003376	Steppage gait
54332	GDAP1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
54332	GDAP1	HP:0003383	Onion bulb formation
54332	GDAP1	HP:0003382	Hypertrophic nerve changes
54332	GDAP1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
54332	GDAP1	HP:0011727	Peroneal muscle weakness
54332	GDAP1	HP:0009473	Joint contracture of the hand
54332	GDAP1	HP:0003450	Axonal regeneration
54332	GDAP1	HP:0003448	Decreased sensory nerve conduction velocity
54332	GDAP1	HP:0003447	Axonal loss
54332	GDAP1	HP:0003457	EMG abnormality
54332	GDAP1	HP:0003431	Decreased motor nerve conduction velocity
54332	GDAP1	HP:0003429	CNS hypomyelination
54332	GDAP1	HP:0003445	EMG: neuropathic changes
54332	GDAP1	HP:0003400	Basal lamina onion bulb formation
54332	GDAP1	HP:0003593	Infantile onset
54332	GDAP1	HP:0003577	Congenital onset
54332	GDAP1	HP:0003547	Shoulder girdle muscle weakness
54332	GDAP1	HP:0007010	Poor fine motor coordination
54332	GDAP1	HP:0007015	Poor gross motor coordination
54332	GDAP1	HP:0003693	Distal amyotrophy
54332	GDAP1	HP:0003690	Limb muscle weakness
54332	GDAP1	HP:0002359	Frequent falls
54332	GDAP1	HP:0003678	Rapidly progressive
54332	GDAP1	HP:0002317	Unsteady gait
54332	GDAP1	HP:0010830	Impaired tactile sensation
54332	GDAP1	HP:0009830	Peripheral neuropathy
54332	GDAP1	HP:0007141	Sensorimotor neuropathy
54332	GDAP1	HP:0008443	Neuropathic spinal arthropathy
54332	GDAP1	HP:0007107	Segmental peripheral demyelination
54332	GDAP1	HP:0007108	Demyelinating peripheral neuropathy
54332	GDAP1	HP:0006858	Impaired distal proprioception
54332	GDAP1	HP:0009072	Decreased Achilles reflex
54332	GDAP1	HP:0006886	Impaired distal vibration sensation
54332	GDAP1	HP:0009053	Distal lower limb muscle weakness
54332	GDAP1	HP:0009027	Foot dorsiflexor weakness
54332	GDAP1	HP:0006937	Impaired distal tactile sensation
54332	GDAP1	HP:0006915	Inability to walk by childhood/adolescence
54332	GDAP1	HP:0009109	Denervation of the diaphragm
54332	GDAP1	HP:0000762	Decreased nerve conduction velocity
54332	GDAP1	HP:0000765	Abnormal thorax morphology
54332	GDAP1	HP:0000764	Peripheral axonal degeneration
54332	GDAP1	HP:0011463	Childhood onset
54332	GDAP1	HP:0009130	Hand muscle atrophy
54332	GDAP1	HP:0000925	Abnormality of the vertebral column
54332	GDAP1	HP:0040078	Axonal degeneration
54332	GDAP1	HP:0003202	Skeletal muscle atrophy
54332	GDAP1	HP:0011675	Arrhythmia
54332	GDAP1	HP:0011096	Peripheral demyelination
54332	GDAP1	HP:0012391	Hyporeflexia of upper limbs
54332	GDAP1	HP:0001609	Hoarse voice
54332	GDAP1	HP:0002936	Distal sensory impairment
54332	GDAP1	HP:0001604	Vocal cord paresis
54332	GDAP1	HP:0031629	Impaired tandem gait
54332	GDAP1	HP:0030319	Weakness of facial musculature
54332	GDAP1	HP:0030237	Hand muscle weakness
54332	GDAP1	HP:0001765	Hammertoe
54332	GDAP1	HP:0001776	Bilateral talipes equinovarus
54332	GDAP1	HP:0001760	Abnormal foot morphology
54332	GDAP1	HP:0001762	Talipes equinovarus
54332	GDAP1	HP:0001761	Pes cavus
54344	DPM3	HP:0003749	Pelvic girdle muscle weakness
54344	DPM3	HP:0002401	Stroke-like episode
54344	DPM3	HP:0003701	Proximal muscle weakness
54344	DPM3	HP:0001270	Motor delay
54344	DPM3	HP:0002518	Abnormal periventricular white matter morphology
54344	DPM3	HP:0002515	Waddling gait
54344	DPM3	HP:0003805	Rimmed vacuoles
54344	DPM3	HP:0025335	Delayed ability to stand
54344	DPM3	HP:0001324	Muscle weakness
54344	DPM3	HP:0000007	Autosomal recessive inheritance
54344	DPM3	HP:0001315	Reduced tendon reflexes
54344	DPM3	HP:0008981	Calf muscle hypertrophy
54344	DPM3	HP:0003391	Gowers sign
54344	DPM3	HP:0003487	Babinski sign
54344	DPM3	HP:0002121	Generalized non-motor (absence) seizure
54344	DPM3	HP:0002187	Intellectual disability, profound
54344	DPM3	HP:0003581	Adult onset
54344	DPM3	HP:0003560	Muscular dystrophy
54344	DPM3	HP:0003557	Increased variability in muscle fiber diameter
54344	DPM3	HP:0100749	Chest pain
54344	DPM3	HP:0008331	Elevated creatine kinase after exercise
54344	DPM3	HP:0003687	Centrally nucleated skeletal muscle fibers
54344	DPM3	HP:0002317	Unsteady gait
54344	DPM3	HP:0003642	Type I transferrin isoform profile
54344	DPM3	HP:0003621	Juvenile onset
54344	DPM3	HP:0031936	Delayed ability to walk
54344	DPM3	HP:0003198	Myopathy
54344	DPM3	HP:0003236	Elevated circulating creatine kinase concentration
54344	DPM3	HP:0012363	Decreased sialylation of O-linked protein glycosylation
54344	DPM3	HP:0002910	Elevated hepatic transaminase
54344	DPM3	HP:0001644	Dilated cardiomyopathy
54344	DPM3	HP:0030234	Highly elevated creatine kinase
54344	DPM3	HP:0001763	Pes planus
54344	DPM3	HP:0006785	Limb-girdle muscular dystrophy
54345	SOX18	HP:0003758	Reduced subcutaneous adipose tissue
54345	SOX18	HP:0001263	Global developmental delay
54345	SOX18	HP:0100870	Plantar telangiectasia
54345	SOX18	HP:0100869	Palmar telangiectasia
54345	SOX18	HP:0000083	Renal insufficiency
54345	SOX18	HP:0000095	Abnormal renal glomerulus morphology
54345	SOX18	HP:0000034	Hydrocele testis
54345	SOX18	HP:0007543	Epidermal hyperkeratosis
54345	SOX18	HP:0000007	Autosomal recessive inheritance
54345	SOX18	HP:0000006	Autosomal dominant inheritance
54345	SOX18	HP:0000164	Abnormality of the dentition
54345	SOX18	HP:0001480	Freckling
54345	SOX18	HP:0007621	Telangiectasia of extensor surfaces
54345	SOX18	HP:0100540	Palpebral edema
54345	SOX18	HP:0003593	Infantile onset
54345	SOX18	HP:0003577	Congenital onset
54345	SOX18	HP:0002223	Absent eyebrow
54345	SOX18	HP:0003550	Predominantly lower limb lymphedema
54345	SOX18	HP:0002231	Sparse body hair
54345	SOX18	HP:0002202	Pleural effusion
54345	SOX18	HP:0002209	Sparse scalp hair
54345	SOX18	HP:0100763	Abnormality of the lymphatic system
54345	SOX18	HP:0010648	Dermal translucency
54345	SOX18	HP:0003676	Progressive
54345	SOX18	HP:0001004	Lymphedema
54345	SOX18	HP:0005598	Facial telangiectasia in butterfly midface distribution
54345	SOX18	HP:0012622	Chronic kidney disease
54345	SOX18	HP:0000653	Sparse eyelashes
54345	SOX18	HP:0004334	Dermal atrophy
54345	SOX18	HP:0034197	Third trimester onset
54345	SOX18	HP:0011463	Childhood onset
54345	SOX18	HP:0011461	Fetal onset
54345	SOX18	HP:0000793	Membranoproliferative glomerulonephritis
54345	SOX18	HP:0003189	Long nose
54345	SOX18	HP:0000971	Abnormal sweat gland morphology
54345	SOX18	HP:0000965	Cutis marmorata
54345	SOX18	HP:0000963	Thin skin
54345	SOX18	HP:0000286	Epicanthus
54345	SOX18	HP:0001597	Abnormality of the nail
54345	SOX18	HP:0001596	Alopecia
54345	SOX18	HP:0001541	Ascites
54345	SOX18	HP:0006521	Pulmonary lymphangiectasia
54345	SOX18	HP:0000300	Oval face
54345	SOX18	HP:0000303	Mandibular prognathia
54345	SOX18	HP:0012471	Thick vermilion border
54345	SOX18	HP:0001790	Nonimmune hydrops fetalis
54345	SOX18	HP:0001789	Hydrops fetalis
54345	SOX18	HP:0000431	Wide nasal bridge
54345	SOX18	HP:0000426	Prominent nasal bridge
54345	SOX18	HP:0000561	Absent eyelashes
54361	WNT4	HP:0001156	Brachydactyly
54361	WNT4	HP:0009937	Facial hirsutism
54361	WNT4	HP:0009890	High anterior hairline
54361	WNT4	HP:0008726	Hypoplasia of the vagina
54361	WNT4	HP:0000086	Ectopic kidney
54361	WNT4	HP:0000085	Horseshoe kidney
54361	WNT4	HP:0025380	Increased circulating androstenedione concentration
54361	WNT4	HP:0000077	Abnormality of the kidney
54361	WNT4	HP:0000078	Abnormality of the genital system
54361	WNT4	HP:0000036	Abnormal penis morphology
54361	WNT4	HP:0000047	Hypospadias
54361	WNT4	HP:0000013	Hypoplasia of the uterus
54361	WNT4	HP:0000007	Autosomal recessive inheritance
54361	WNT4	HP:0000006	Autosomal dominant inheritance
54361	WNT4	HP:0000175	Cleft palate
54361	WNT4	HP:0000142	Abnormal vagina morphology
54361	WNT4	HP:0000137	Abnormality of the ovary
54361	WNT4	HP:0000151	Aplasia of the uterus
54361	WNT4	HP:0410030	Cleft lip
54361	WNT4	HP:0000122	Unilateral renal agenesis
54361	WNT4	HP:0000104	Renal agenesis
54361	WNT4	HP:0003312	Abnormal form of the vertebral bodies
54361	WNT4	HP:0005944	Bilateral lung agenesis
54361	WNT4	HP:0002089	Pulmonary hypoplasia
54361	WNT4	HP:0011743	Adrenal gland agenesis
54361	WNT4	HP:0004794	Malrotation of small bowel
54361	WNT4	HP:0003422	Vertebral segmentation defect
54361	WNT4	HP:0034589	Increased circulating dehydroepiandrosterone-sulfate concentration
54361	WNT4	HP:0002292	Frontal balding
54361	WNT4	HP:0032073	Aplasia of the fallopian tube
54361	WNT4	HP:0001061	Acne
54361	WNT4	HP:0001007	Hirsutism
54361	WNT4	HP:0000664	Synophrys
54361	WNT4	HP:0004322	Short stature
54361	WNT4	HP:0030680	Abnormality of cardiovascular system morphology
54361	WNT4	HP:0000776	Congenital diaphragmatic hernia
54361	WNT4	HP:0000786	Primary amenorrhea
54361	WNT4	HP:0004415	Pulmonary artery stenosis
54361	WNT4	HP:0000914	Shield chest
54361	WNT4	HP:0012861	Ovotestis
54361	WNT4	HP:0000834	Abnormality of the adrenal glands
54361	WNT4	HP:0000811	Abnormal external genitalia
54361	WNT4	HP:0003250	Aplasia of the vagina
54361	WNT4	HP:0012245	Sex reversal
54361	WNT4	HP:0005107	Abnormal sacrum morphology
54361	WNT4	HP:0030088	Increased serum testosterone level
54361	WNT4	HP:0001562	Oligohydramnios
54361	WNT4	HP:0000202	Orofacial cleft
54361	WNT4	HP:0001511	Intrauterine growth retardation
54361	WNT4	HP:0001510	Growth delay
54361	WNT4	HP:0001513	Obesity
54361	WNT4	HP:0002948	Vertebral fusion
54361	WNT4	HP:0000369	Low-set ears
54361	WNT4	HP:0001642	Pulmonic stenosis
54361	WNT4	HP:0000322	Short philtrum
54361	WNT4	HP:0001629	Ventricular septal defect
54361	WNT4	HP:0002967	Cubitus valgus
54361	WNT4	HP:0005343	Hypoplasia of the bladder
54361	WNT4	HP:0000470	Short neck
54361	WNT4	HP:0000411	Protruding ear
54361	WNT4	HP:0025708	Early young adult onset
54361	WNT4	HP:0000574	Thick eyebrow
54386	TERF2IP	HP:0003764	Nevus
54386	TERF2IP	HP:0001480	Freckling
54386	TERF2IP	HP:0002071	Abnormality of extrapyramidal motor function
54386	TERF2IP	HP:0100763	Abnormality of the lymphatic system
54386	TERF2IP	HP:0100013	Neoplasm of the breast
54386	TERF2IP	HP:0000958	Dry skin
54386	TERF2IP	HP:0001595	Abnormal hair morphology
54386	TERF2IP	HP:0002894	Neoplasm of the pancreas
54386	TERF2IP	HP:0002861	Melanoma
54386	TERF2IP	HP:0000488	Retinopathy
54386	TERF2IP	HP:0006753	Neoplasm of the stomach
54413	NLGN3	HP:0001250	Seizure
54413	NLGN3	HP:0001249	Intellectual disability
54413	NLGN3	HP:0001417	X-linked inheritance
54413	NLGN3	HP:0002353	EEG abnormality
54413	NLGN3	HP:0002332	Lack of peer relationships
54413	NLGN3	HP:0000758	Abnormal nonverbal communicative behavior
54413	NLGN3	HP:0000732	Inflexible adherence to routines or rituals
54413	NLGN3	HP:0000750	Delayed speech and language development
54413	NLGN3	HP:0000717	Autism
54413	NLGN3	HP:0000723	Restrictive behavior
54413	NLGN3	HP:0000721	Lack of spontaneous play
54413	NLGN3	HP:0011463	Childhood onset
54413	NLGN3	HP:0003144	Increased serum serotonin
54440	SASH3	HP:0100806	Sepsis
54440	SASH3	HP:0410378	Decreased proportion of naive CD4 T cells
54440	SASH3	HP:0410377	Decreased proportion of naive CD8 T cells
54440	SASH3	HP:0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells
54440	SASH3	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
54440	SASH3	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine
54440	SASH3	HP:0010976	B lymphocytopenia
54440	SASH3	HP:0002783	Recurrent lower respiratory tract infections
54440	SASH3	HP:0002788	Recurrent upper respiratory tract infections
54440	SASH3	HP:0001419	X-linked recessive inheritance
54440	SASH3	HP:0002720	Decreased circulating IgA level
54440	SASH3	HP:0002110	Bronchiectasis
54440	SASH3	HP:0002240	Hepatomegaly
54440	SASH3	HP:0002257	Chronic rhinitis
54440	SASH3	HP:0003581	Adult onset
54440	SASH3	HP:0011954	Nodular regenerative hyperplasia of liver
54440	SASH3	HP:0200043	Verrucae
54440	SASH3	HP:0032154	Aphthous ulcer
54440	SASH3	HP:0032170	Severe varicella zoster infection
54440	SASH3	HP:0001973	Autoimmune thrombocytopenia
54440	SASH3	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
54440	SASH3	HP:0001903	Anemia
54440	SASH3	HP:0004315	Decreased circulating IgG level
54440	SASH3	HP:0011463	Childhood onset
54440	SASH3	HP:0030783	Increased circulating interleukin 6 concentration
54440	SASH3	HP:0034249	Severe influenza infection
54440	SASH3	HP:0000821	Hypothyroidism
54440	SASH3	HP:0040218	Reduced natural killer cell count
54440	SASH3	HP:0001581	Recurrent skin infections
54440	SASH3	HP:0002850	Decreased circulating total IgM
54440	SASH3	HP:0011109	Chronic sinusitis
54440	SASH3	HP:0011108	Recurrent sinusitis
54440	SASH3	HP:0005407	Decreased proportion of CD4-positive helper T cells
54440	SASH3	HP:0001882	Leukopenia
54443	ANLN	HP:0003774	Stage 5 chronic kidney disease
54443	ANLN	HP:0002586	Peritonitis
54443	ANLN	HP:0000097	Focal segmental glomerulosclerosis
54443	ANLN	HP:0000093	Proteinuria
54443	ANLN	HP:0000006	Autosomal dominant inheritance
54443	ANLN	HP:0000100	Nephrotic syndrome
54443	ANLN	HP:0002027	Abdominal pain
54443	ANLN	HP:0100539	Periorbital edema
54443	ANLN	HP:0003584	Late onset
54443	ANLN	HP:0011947	Respiratory tract infection
54443	ANLN	HP:0002315	Headache
54443	ANLN	HP:0003621	Juvenile onset
54443	ANLN	HP:0012622	Chronic kidney disease
54443	ANLN	HP:0001967	Diffuse mesangial sclerosis
54443	ANLN	HP:0001945	Fever
54443	ANLN	HP:0003073	Hypoalbuminemia
54443	ANLN	HP:0000737	Irritability
54443	ANLN	HP:0000707	Abnormality of the nervous system
54443	ANLN	HP:0011462	Young adult onset
54443	ANLN	HP:0000969	Edema
54443	ANLN	HP:0031504	Foamy urine
54443	ANLN	HP:0012579	Minimal change glomerulonephritis
54453	RIN2	HP:0001156	Brachydactyly
54453	RIN2	HP:0001252	Hypotonia
54453	RIN2	HP:0008661	Urethral stenosis
54453	RIN2	HP:0001388	Joint laxity
54453	RIN2	HP:0001382	Joint hypermobility
54453	RIN2	HP:0000028	Cryptorchidism
54453	RIN2	HP:0002659	Increased susceptibility to fractures
54453	RIN2	HP:0000007	Autosomal recessive inheritance
54453	RIN2	HP:0002650	Scoliosis
54453	RIN2	HP:0000159	Abnormal lip morphology
54453	RIN2	HP:0100540	Palpebral edema
54453	RIN2	HP:0100543	Cognitive impairment
54453	RIN2	HP:0002110	Bronchiectasis
54453	RIN2	HP:0008209	Premature ovarian insufficiency
54453	RIN2	HP:0003593	Infantile onset
54453	RIN2	HP:0002209	Sparse scalp hair
54453	RIN2	HP:0001007	Hirsutism
54453	RIN2	HP:0007204	Diffuse white matter abnormalities
54453	RIN2	HP:0004942	Aortic aneurysm
54453	RIN2	HP:0004325	Decreased body weight
54453	RIN2	HP:0004322	Short stature
54453	RIN2	HP:0003010	Prolonged bleeding time
54453	RIN2	HP:0000767	Pectus excavatum
54453	RIN2	HP:0000766	Abnormal sternum morphology
54453	RIN2	HP:0012724	Upper eyelid edema
54453	RIN2	HP:0000815	Hypergonadotropic hypogonadism
54453	RIN2	HP:0040079	Irregular dentition
54453	RIN2	HP:0045075	Sparse eyebrow
54453	RIN2	HP:0000978	Bruising susceptibility
54453	RIN2	HP:0000977	Soft skin
54453	RIN2	HP:0000974	Hyperextensible skin
54453	RIN2	HP:0000973	Cutis laxa
54453	RIN2	HP:0000954	Single transverse palmar crease
54453	RIN2	HP:0000939	Osteoporosis
54453	RIN2	HP:0008070	Sparse hair
54453	RIN2	HP:0008064	Ichthyosis
54453	RIN2	HP:0000286	Epicanthus
54453	RIN2	HP:0000280	Coarse facial features
54453	RIN2	HP:0001596	Alopecia
54453	RIN2	HP:0000256	Macrocephaly
54453	RIN2	HP:0001582	Redundant skin
54453	RIN2	HP:0000218	High palate
54453	RIN2	HP:0000212	Gingival overgrowth
54453	RIN2	HP:0001537	Umbilical hernia
54453	RIN2	HP:0012378	Fatigue
54453	RIN2	HP:0011003	High myopia
54453	RIN2	HP:0000343	Long philtrum
54453	RIN2	HP:0000348	High forehead
54453	RIN2	HP:0000347	Micrognathia
54453	RIN2	HP:0001620	High pitched voice
54453	RIN2	HP:0012471	Thick vermilion border
54453	RIN2	HP:0012472	Eclabion
54453	RIN2	HP:0000494	Downslanted palpebral fissures
54453	RIN2	HP:0011107	Recurrent aphthous stomatitis
54453	RIN2	HP:0001763	Pes planus
54453	RIN2	HP:0000431	Wide nasal bridge
54453	RIN2	HP:0011232	Infra-orbital fold
54453	RIN2	HP:0012520	Dilation of Virchow-Robin spaces
54456	MOV10L1	HP:0031038	Spermatogenesis maturation arrest
54456	MOV10L1	HP:0000007	Autosomal recessive inheritance
54456	MOV10L1	HP:0011961	Non-obstructive azoospermia
54456	MOV10L1	HP:0011462	Young adult onset
54456	MOV10L1	HP:0003251	Male infertility
54463	RETREG1	HP:0001182	Tapered finger
54463	RETREG1	HP:0001290	Generalized hypotonia
54463	RETREG1	HP:0001284	Areflexia
54463	RETREG1	HP:0001252	Hypotonia
54463	RETREG1	HP:0001265	Hyporeflexia
54463	RETREG1	HP:0001257	Spasticity
54463	RETREG1	HP:0000020	Urinary incontinence
54463	RETREG1	HP:0008872	Feeding difficulties in infancy
54463	RETREG1	HP:0007460	Autoamputation of digits
54463	RETREG1	HP:0006121	Acral ulceration
54463	RETREG1	HP:0002661	Painless fractures due to injury
54463	RETREG1	HP:0000007	Autosomal recessive inheritance
54463	RETREG1	HP:0002645	Wormian bones
54463	RETREG1	HP:0002797	Osteolysis
54463	RETREG1	HP:0002754	Osteomyelitis
54463	RETREG1	HP:0002020	Gastroesophageal reflux
54463	RETREG1	HP:0003307	Hyperlordosis
54463	RETREG1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
54463	RETREG1	HP:0005930	Abnormal epiphysis morphology
54463	RETREG1	HP:0003477	Peripheral axonal neuropathy
54463	RETREG1	HP:0003448	Decreased sensory nerve conduction velocity
54463	RETREG1	HP:0003593	Infantile onset
54463	RETREG1	HP:0008391	Dystrophic fingernails
54463	RETREG1	HP:0001069	Episodic hyperhidrosis
54463	RETREG1	HP:0003676	Progressive
54463	RETREG1	HP:0003677	Slowly progressive
54463	RETREG1	HP:0009830	Peripheral neuropathy
54463	RETREG1	HP:0009771	Osteolytic defects of the phalanges of the hand
54463	RETREG1	HP:0003621	Juvenile onset
54463	RETREG1	HP:0001939	Abnormality of metabolism/homeostasis
54463	RETREG1	HP:0003028	Abnormality of the ankle
54463	RETREG1	HP:0004349	Reduced bone mineral density
54463	RETREG1	HP:0000762	Decreased nerve conduction velocity
54463	RETREG1	HP:0003103	Abnormal cortical bone morphology
54463	RETREG1	HP:0003202	Skeletal muscle atrophy
54463	RETREG1	HP:0003272	Abnormal hip bone morphology
54463	RETREG1	HP:0008000	Decreased corneal reflex
54463	RETREG1	HP:0000975	Hyperhidrosis
54463	RETREG1	HP:0000970	Anhidrosis
54463	RETREG1	HP:0002815	Abnormality of the knee
54463	RETREG1	HP:0000224	Hypogeusia
54463	RETREG1	HP:0001842	Foot acroosteolysis
54463	RETREG1	HP:0001818	Paronychia
54463	RETREG1	HP:0001810	Dystrophic toenail
54476	RNF216	HP:0001272	Cerebellar atrophy
54476	RNF216	HP:0001252	Hypotonia
54476	RNF216	HP:0001251	Ataxia
54476	RNF216	HP:0001260	Dysarthria
54476	RNF216	HP:0002558	Supernumerary nipple
54476	RNF216	HP:0000044	Hypogonadotropic hypogonadism
54476	RNF216	HP:0000007	Autosomal recessive inheritance
54476	RNF216	HP:0000144	Decreased fertility
54476	RNF216	HP:0000135	Hypogonadism
54476	RNF216	HP:0002072	Chorea
54476	RNF216	HP:0002059	Cerebral atrophy
54476	RNF216	HP:0008197	Absence of pubertal development
54476	RNF216	HP:0002167	Abnormality of speech or vocalization
54476	RNF216	HP:0003621	Juvenile onset
54476	RNF216	HP:0004209	Clinodactyly of the 5th finger
54476	RNF216	HP:0000639	Nystagmus
54476	RNF216	HP:0000648	Optic atrophy
54476	RNF216	HP:0004322	Short stature
54476	RNF216	HP:0004374	Hemiplegia/hemiparesis
54476	RNF216	HP:0000751	Personality changes
54476	RNF216	HP:0000771	Gynecomastia
54476	RNF216	HP:0000726	Dementia
54476	RNF216	HP:0000708	Atypical behavior
54476	RNF216	HP:0011463	Childhood onset
54476	RNF216	HP:0000786	Primary amenorrhea
54476	RNF216	HP:0000876	Oligomenorrhea
54476	RNF216	HP:0000869	Secondary amenorrhea
54476	RNF216	HP:0000864	Abnormality of the hypothalamus-pituitary axis
54476	RNF216	HP:0007703	Abnormality of retinal pigmentation
54476	RNF216	HP:0000248	Brachycephaly
54476	RNF216	HP:0025708	Early young adult onset
54476	RNF216	HP:0000512	Abnormal electroretinogram
54487	DGCR8	HP:0001155	Abnormality of the hand
54487	DGCR8	HP:0001252	Hypotonia
54487	DGCR8	HP:0001249	Intellectual disability
54487	DGCR8	HP:0000023	Inguinal hernia
54487	DGCR8	HP:0000028	Cryptorchidism
54487	DGCR8	HP:0001328	Specific learning disability
54487	DGCR8	HP:0000006	Autosomal dominant inheritance
54487	DGCR8	HP:0002627	Right aortic arch with mirror image branching
54487	DGCR8	HP:0000194	Open mouth
54487	DGCR8	HP:0000176	Submucous cleft hard palate
54487	DGCR8	HP:0000175	Cleft palate
54487	DGCR8	HP:0002719	Recurrent infections
54487	DGCR8	HP:0011999	Paranoia
54487	DGCR8	HP:0004935	Pulmonary artery atresia
54487	DGCR8	HP:0000627	Posterior embryotoxon
54487	DGCR8	HP:0004322	Short stature
54487	DGCR8	HP:0000718	Aggressive behavior
54487	DGCR8	HP:0000712	Emotional lability
54487	DGCR8	HP:0012841	Retinal vascular tortuosity
54487	DGCR8	HP:0000829	Hypoparathyroidism
54487	DGCR8	HP:0011590	Double aortic arch
54487	DGCR8	HP:0011611	Interrupted aortic arch
54487	DGCR8	HP:0045025	Narrow palpebral fissure
54487	DGCR8	HP:0000278	Retrognathia
54487	DGCR8	HP:0000252	Microcephaly
54487	DGCR8	HP:0000220	Velopharyngeal insufficiency
54487	DGCR8	HP:0001537	Umbilical hernia
54487	DGCR8	HP:0000201	Pierre-Robin sequence
54487	DGCR8	HP:0006549	Unilateral primary pulmonary dysgenesis
54487	DGCR8	HP:0002901	Hypocalcemia
54487	DGCR8	HP:0001629	Ventricular septal defect
54487	DGCR8	HP:0001636	Tetralogy of Fallot
54487	DGCR8	HP:0000414	Bulbous nose
54487	DGCR8	HP:0000430	Underdeveloped nasal alae
54487	DGCR8	HP:0005435	Impaired T cell function
54487	DGCR8	HP:0000598	Abnormality of the ear
54487	DGCR8	HP:0000581	Blepharophimosis
54487	DGCR8	HP:0001883	Talipes
54496	PRMT7	HP:0001156	Brachydactyly
54496	PRMT7	HP:0009933	Narrow naris
54496	PRMT7	HP:0009891	Underdeveloped supraorbital ridges
54496	PRMT7	HP:0010864	Intellectual disability, severe
54496	PRMT7	HP:0009882	Short distal phalanx of finger
54496	PRMT7	HP:0001256	Intellectual disability, mild
54496	PRMT7	HP:0001250	Seizure
54496	PRMT7	HP:0001252	Hypotonia
54496	PRMT7	HP:0001249	Intellectual disability
54496	PRMT7	HP:0001263	Global developmental delay
54496	PRMT7	HP:0007359	Focal-onset seizure
54496	PRMT7	HP:0000089	Renal hypoplasia
54496	PRMT7	HP:0000076	Vesicoureteral reflux
54496	PRMT7	HP:0000028	Cryptorchidism
54496	PRMT7	HP:0001328	Specific learning disability
54496	PRMT7	HP:0000010	Recurrent urinary tract infections
54496	PRMT7	HP:0000007	Autosomal recessive inheritance
54496	PRMT7	HP:0008947	Infantile muscular hypotonia
54496	PRMT7	HP:0002020	Gastroesophageal reflux
54496	PRMT7	HP:0002035	Rectal prolapse
54496	PRMT7	HP:0004689	Short fourth metatarsal
54496	PRMT7	HP:0005989	Redundant neck skin
54496	PRMT7	HP:0002007	Frontal bossing
54496	PRMT7	HP:0002079	Hypoplasia of the corpus callosum
54496	PRMT7	HP:0002144	Tethered cord
54496	PRMT7	HP:0002188	Delayed CNS myelination
54496	PRMT7	HP:0010535	Sleep apnea
54496	PRMT7	HP:0003577	Congenital onset
54496	PRMT7	HP:0011968	Feeding difficulties
54496	PRMT7	HP:0007074	Thick corpus callosum
54496	PRMT7	HP:0002342	Intellectual disability, moderate
54496	PRMT7	HP:0010819	Atonic seizure
54496	PRMT7	HP:0010743	Short metatarsal
54496	PRMT7	HP:0000620	Dacryocystitis
54496	PRMT7	HP:0010049	Short metacarpal
54496	PRMT7	HP:0011344	Severe global developmental delay
54496	PRMT7	HP:0011335	Frontal hirsutism
54496	PRMT7	HP:0000678	Dental crowding
54496	PRMT7	HP:0001999	Abnormal facial shape
54496	PRMT7	HP:0004322	Short stature
54496	PRMT7	HP:0003065	Patellar hypoplasia
54496	PRMT7	HP:0031936	Delayed ability to walk
54496	PRMT7	HP:0031938	Abnormal conus terminalis morphology
54496	PRMT7	HP:0012745	Short palpebral fissure
54496	PRMT7	HP:0000736	Short attention span
54496	PRMT7	HP:0000750	Delayed speech and language development
54496	PRMT7	HP:0003196	Short nose
54496	PRMT7	HP:0000924	Abnormality of the skeletal system
54496	PRMT7	HP:0000852	Pseudohypoparathyroidism
54496	PRMT7	HP:0000818	Abnormality of the endocrine system
54496	PRMT7	HP:0000977	Soft skin
54496	PRMT7	HP:0000964	Eczema
54496	PRMT7	HP:0000960	Sacral dimple
54496	PRMT7	HP:0008070	Sparse hair
54496	PRMT7	HP:0000286	Epicanthus
54496	PRMT7	HP:0000278	Retrognathia
54496	PRMT7	HP:0000272	Malar flattening
54496	PRMT7	HP:0000252	Microcephaly
54496	PRMT7	HP:0000248	Brachycephaly
54496	PRMT7	HP:0000218	High palate
54496	PRMT7	HP:0000212	Gingival overgrowth
54496	PRMT7	HP:0001561	Polyhydramnios
54496	PRMT7	HP:0000233	Thin vermilion border
54496	PRMT7	HP:0001508	Failure to thrive
54496	PRMT7	HP:0001511	Intrauterine growth retardation
54496	PRMT7	HP:0001513	Obesity
54496	PRMT7	HP:0000384	Preauricular skin tag
54496	PRMT7	HP:0012368	Flat face
54496	PRMT7	HP:0001601	Laryngomalacia
54496	PRMT7	HP:0000343	Long philtrum
54496	PRMT7	HP:0000316	Hypertelorism
54496	PRMT7	HP:0002967	Cubitus valgus
54496	PRMT7	HP:0011147	Typical absence seizure
54496	PRMT7	HP:0000407	Sensorineural hearing impairment
54496	PRMT7	HP:0005280	Depressed nasal bridge
54496	PRMT7	HP:0000483	Astigmatism
54496	PRMT7	HP:0000486	Strabismus
54496	PRMT7	HP:0000490	Deeply set eye
54496	PRMT7	HP:0000463	Anteverted nares
54496	PRMT7	HP:0000455	Broad nasal tip
54496	PRMT7	HP:0000457	Depressed nasal ridge
54496	PRMT7	HP:0000470	Short neck
54496	PRMT7	HP:0012443	Abnormality of brain morphology
54496	PRMT7	HP:0000431	Wide nasal bridge
54496	PRMT7	HP:0000508	Ptosis
54496	PRMT7	HP:0000592	Blue sclerae
54496	PRMT7	HP:0000589	Coloboma
54496	PRMT7	HP:0000588	Optic disc coloboma
54496	PRMT7	HP:0011220	Prominent forehead
54499	TMCO1	HP:0001187	Hyperextensibility of the finger joints
54499	TMCO1	HP:0001162	Postaxial hand polydactyly
54499	TMCO1	HP:0100807	Long fingers
54499	TMCO1	HP:0001270	Motor delay
54499	TMCO1	HP:0001288	Gait disturbance
54499	TMCO1	HP:0001252	Hypotonia
54499	TMCO1	HP:0001249	Intellectual disability
54499	TMCO1	HP:0001265	Hyporeflexia
54499	TMCO1	HP:0002558	Supernumerary nipple
54499	TMCO1	HP:0002553	Highly arched eyebrow
54499	TMCO1	HP:0001382	Joint hypermobility
54499	TMCO1	HP:0000049	Shawl scrotum
54499	TMCO1	HP:0000023	Inguinal hernia
54499	TMCO1	HP:0001363	Craniosynostosis
54499	TMCO1	HP:0008897	Postnatal growth retardation
54499	TMCO1	HP:0001344	Absent speech
54499	TMCO1	HP:0000007	Autosomal recessive inheritance
54499	TMCO1	HP:0001320	Cerebellar vermis hypoplasia
54499	TMCO1	HP:0002650	Scoliosis
54499	TMCO1	HP:0001319	Neonatal hypotonia
54499	TMCO1	HP:0000175	Cleft palate
54499	TMCO1	HP:0000154	Wide mouth
54499	TMCO1	HP:0006347	Microdontia of primary teeth
54499	TMCO1	HP:0000122	Unilateral renal agenesis
54499	TMCO1	HP:0011800	Midface retrusion
54499	TMCO1	HP:0002080	Intention tremor
54499	TMCO1	HP:0002079	Hypoplasia of the corpus callosum
54499	TMCO1	HP:0002120	Cerebral cortical atrophy
54499	TMCO1	HP:0002119	Ventriculomegaly
54499	TMCO1	HP:0003422	Vertebral segmentation defect
54499	TMCO1	HP:0002162	Low posterior hairline
54499	TMCO1	HP:0003577	Congenital onset
54499	TMCO1	HP:0002208	Coarse hair
54499	TMCO1	HP:0010720	Abnormal hair pattern
54499	TMCO1	HP:0100790	Hernia
54499	TMCO1	HP:0002290	Poliosis
54499	TMCO1	HP:0007018	Attention deficit hyperactivity disorder
54499	TMCO1	HP:0011968	Feeding difficulties
54499	TMCO1	HP:0000664	Synophrys
54499	TMCO1	HP:0004322	Short stature
54499	TMCO1	HP:0000767	Pectus excavatum
54499	TMCO1	HP:0000739	Anxiety
54499	TMCO1	HP:0000742	Self-mutilation
54499	TMCO1	HP:0000774	Narrow chest
54499	TMCO1	HP:0003196	Short nose
54499	TMCO1	HP:0000912	Sprengel anomaly
54499	TMCO1	HP:0000902	Rib fusion
54499	TMCO1	HP:0000892	Bifid ribs
54499	TMCO1	HP:0011504	Bull's eye maculopathy
54499	TMCO1	HP:0000824	Decreased response to growth hormone stimulation test
54499	TMCO1	HP:0004568	Beaking of vertebral bodies
54499	TMCO1	HP:0000998	Hypertrichosis
54499	TMCO1	HP:0000960	Sacral dimple
54499	TMCO1	HP:0000286	Epicanthus
54499	TMCO1	HP:0000294	Low anterior hairline
54499	TMCO1	HP:0000289	Broad philtrum
54499	TMCO1	HP:0000256	Macrocephaly
54499	TMCO1	HP:0000252	Microcephaly
54499	TMCO1	HP:0000248	Brachycephaly
54499	TMCO1	HP:0000218	High palate
54499	TMCO1	HP:0000212	Gingival overgrowth
54499	TMCO1	HP:0001561	Polyhydramnios
54499	TMCO1	HP:0001558	Decreased fetal movement
54499	TMCO1	HP:0000204	Cleft upper lip
54499	TMCO1	HP:0001520	Large for gestational age
54499	TMCO1	HP:0012368	Flat face
54499	TMCO1	HP:0002937	Hemivertebrae
54499	TMCO1	HP:0002948	Vertebral fusion
54499	TMCO1	HP:0000358	Posteriorly rotated ears
54499	TMCO1	HP:0000369	Low-set ears
54499	TMCO1	HP:0000368	Low-set, posteriorly rotated ears
54499	TMCO1	HP:0000341	Narrow forehead
54499	TMCO1	HP:0000347	Micrognathia
54499	TMCO1	HP:0000316	Hypertelorism
54499	TMCO1	HP:0001643	Patent ductus arteriosus
54499	TMCO1	HP:0000327	Hypoplasia of the maxilla
54499	TMCO1	HP:0001631	Atrial septal defect
54499	TMCO1	HP:0006610	Wide intermamillary distance
54499	TMCO1	HP:0000403	Recurrent otitis media
54499	TMCO1	HP:0000486	Strabismus
54499	TMCO1	HP:0000494	Downslanted palpebral fissures
54499	TMCO1	HP:0000463	Anteverted nares
54499	TMCO1	HP:0012450	Chronic constipation
54499	TMCO1	HP:0000470	Short neck
54499	TMCO1	HP:0011108	Recurrent sinusitis
54499	TMCO1	HP:0001763	Pes planus
54499	TMCO1	HP:0000445	Wide nose
54499	TMCO1	HP:0001762	Talipes equinovarus
54499	TMCO1	HP:0000431	Wide nasal bridge
54499	TMCO1	HP:0001845	Overlapping toe
54499	TMCO1	HP:0000527	Long eyelashes
54499	TMCO1	HP:0000508	Ptosis
54499	TMCO1	HP:0000582	Upslanted palpebral fissure
54499	TMCO1	HP:0000574	Thick eyebrow
54507	ADAMTSL4	HP:0009917	Persistent pupillary membrane
54507	ADAMTSL4	HP:0009918	Ectopia pupillae
54507	ADAMTSL4	HP:0001387	Joint stiffness
54507	ADAMTSL4	HP:0000007	Autosomal recessive inheritance
54507	ADAMTSL4	HP:0100543	Cognitive impairment
54507	ADAMTSL4	HP:0001083	Ectopia lentis
54507	ADAMTSL4	HP:0000639	Nystagmus
54507	ADAMTSL4	HP:0000646	Amblyopia
54507	ADAMTSL4	HP:0012805	Iris transillumination defect
54507	ADAMTSL4	HP:0000822	Hypertension
54507	ADAMTSL4	HP:0000272	Malar flattening
54507	ADAMTSL4	HP:0011003	High myopia
54507	ADAMTSL4	HP:0000303	Mandibular prognathia
54507	ADAMTSL4	HP:0000518	Cataract
54507	ADAMTSL4	HP:0000505	Visual impairment
54507	ADAMTSL4	HP:0000541	Retinal detachment
54517	PUS7	HP:0003763	Bruxism
54517	PUS7	HP:0001290	Generalized hypotonia
54517	PUS7	HP:0001270	Motor delay
54517	PUS7	HP:0001249	Intellectual disability
54517	PUS7	HP:0001263	Global developmental delay
54517	PUS7	HP:0100876	Infra-orbital crease
54517	PUS7	HP:0002553	Highly arched eyebrow
54517	PUS7	HP:0000007	Autosomal recessive inheritance
54517	PUS7	HP:0001337	Tremor
54517	PUS7	HP:0000179	Thick lower lip vermilion
54517	PUS7	HP:0000194	Open mouth
54517	PUS7	HP:0006335	Persistence of primary teeth
54517	PUS7	HP:0003394	Muscle spasm
54517	PUS7	HP:0002057	Prominent glabella
54517	PUS7	HP:0002119	Ventriculomegaly
54517	PUS7	HP:0003593	Infantile onset
54517	PUS7	HP:0002240	Hepatomegaly
54517	PUS7	HP:0007018	Attention deficit hyperactivity disorder
54517	PUS7	HP:0020045	Esodeviation
54517	PUS7	HP:0000678	Dental crowding
54517	PUS7	HP:0000668	Hypodontia
54517	PUS7	HP:0004325	Decreased body weight
54517	PUS7	HP:0004322	Short stature
54517	PUS7	HP:0031936	Delayed ability to walk
54517	PUS7	HP:0000752	Hyperactivity
54517	PUS7	HP:0000736	Short attention span
54517	PUS7	HP:0000750	Delayed speech and language development
54517	PUS7	HP:0000718	Aggressive behavior
54517	PUS7	HP:0011463	Childhood onset
54517	PUS7	HP:0000286	Epicanthus
54517	PUS7	HP:0000278	Retrognathia
54517	PUS7	HP:0000252	Microcephaly
54517	PUS7	HP:0000218	High palate
54517	PUS7	HP:0000232	Everted lower lip vermilion
54517	PUS7	HP:0011095	Overjet
54517	PUS7	HP:0000369	Low-set ears
54517	PUS7	HP:0000347	Micrognathia
54517	PUS7	HP:0000319	Smooth philtrum
54517	PUS7	HP:0000322	Short philtrum
54517	PUS7	HP:0000325	Triangular face
54517	PUS7	HP:0000307	Pointed chin
54517	PUS7	HP:0000407	Sensorineural hearing impairment
54517	PUS7	HP:0012471	Thick vermilion border
54517	PUS7	HP:0000494	Downslanted palpebral fissures
54517	PUS7	HP:0000490	Deeply set eye
54517	PUS7	HP:0000463	Anteverted nares
54517	PUS7	HP:0012444	Brain atrophy
54517	PUS7	HP:0000411	Protruding ear
54517	PUS7	HP:0000431	Wide nasal bridge
54532	USP53	HP:0001396	Cholestasis
54532	USP53	HP:0001395	Hepatic fibrosis
54532	USP53	HP:0000007	Autosomal recessive inheritance
54532	USP53	HP:0410053	Elevated circulating gamma-aminobutyric acid concentration
54532	USP53	HP:0003593	Infantile onset
54532	USP53	HP:0003623	Neonatal onset
54532	USP53	HP:0003621	Juvenile onset
54532	USP53	HP:0031956	Elevated circulating aspartate aminotransferase concentration
54532	USP53	HP:0031964	Elevated circulating alanine aminotransferase concentration
54532	USP53	HP:0011463	Childhood onset
54532	USP53	HP:0003155	Elevated circulating alkaline phosphatase concentration
54532	USP53	HP:0012852	Hepatic bridging fibrosis
54532	USP53	HP:0000989	Pruritus
54532	USP53	HP:0000952	Jaundice
54532	USP53	HP:0002901	Hypocalcemia
54532	USP53	HP:0000365	Hearing impairment
54532	USP53	HP:0001744	Splenomegaly
54538	ROBO4	HP:0000006	Autosomal dominant inheritance
54538	ROBO4	HP:0002616	Aortic root aneurysm
54538	ROBO4	HP:0004933	Ascending aortic dissection
54538	ROBO4	HP:0001650	Aortic valve stenosis
54538	ROBO4	HP:0001647	Bicuspid aortic valve
54538	ROBO4	HP:0001631	Atrial septal defect
54539	NDUFB11	HP:0025116	Fetal distress
54539	NDUFB11	HP:0002490	Increased CSF lactate
54539	NDUFB11	HP:0001138	Optic neuropathy
54539	NDUFB11	HP:0009939	Mandibular aplasia
54539	NDUFB11	HP:0002421	Poor head control
54539	NDUFB11	HP:0002415	Leukodystrophy
54539	NDUFB11	HP:0003737	Mitochondrial myopathy
54539	NDUFB11	HP:0001298	Encephalopathy
54539	NDUFB11	HP:0001274	Agenesis of corpus callosum
54539	NDUFB11	HP:0001254	Lethargy
54539	NDUFB11	HP:0001250	Seizure
54539	NDUFB11	HP:0001252	Hypotonia
54539	NDUFB11	HP:0001251	Ataxia
54539	NDUFB11	HP:0001249	Intellectual disability
54539	NDUFB11	HP:0001263	Global developmental delay
54539	NDUFB11	HP:0007398	Asymmetric, linear skin defects
54539	NDUFB11	HP:0008665	Clitoral hypertrophy
54539	NDUFB11	HP:0003811	Neonatal death
54539	NDUFB11	HP:0000062	Ambiguous genitalia
54539	NDUFB11	HP:0000041	Chordee
54539	NDUFB11	HP:0000037	Male pseudohermaphroditism
54539	NDUFB11	HP:0000036	Abnormal penis morphology
54539	NDUFB11	HP:0000039	Epispadias
54539	NDUFB11	HP:0000054	Micropenis
54539	NDUFB11	HP:0000047	Hypospadias
54539	NDUFB11	HP:0000035	Abnormal testis morphology
54539	NDUFB11	HP:0001331	Absent septum pellucidum
54539	NDUFB11	HP:0001328	Specific learning disability
54539	NDUFB11	HP:0001324	Muscle weakness
54539	NDUFB11	HP:0000013	Hypoplasia of the uterus
54539	NDUFB11	HP:0002623	Overriding aorta
54539	NDUFB11	HP:0000175	Cleft palate
54539	NDUFB11	HP:0008936	Axial hypotonia
54539	NDUFB11	HP:0007572	Hyperpigmented streaks
54539	NDUFB11	HP:0000114	Proximal tubulopathy
54539	NDUFB11	HP:0001423	X-linked dominant inheritance
54539	NDUFB11	HP:0001417	X-linked inheritance
54539	NDUFB11	HP:0002023	Anal atresia
54539	NDUFB11	HP:0002034	Abnormal rectum morphology
54539	NDUFB11	HP:0002013	Vomiting
54539	NDUFB11	HP:0011800	Midface retrusion
54539	NDUFB11	HP:0002098	Respiratory distress
54539	NDUFB11	HP:0002094	Dyspnea
54539	NDUFB11	HP:0002093	Respiratory insufficiency
54539	NDUFB11	HP:0010448	Colonic atresia
54539	NDUFB11	HP:0011781	Thyroid C cell hyperplasia
54539	NDUFB11	HP:0011716	Junctional ectopic tachycardia
54539	NDUFB11	HP:0002133	Status epilepticus
54539	NDUFB11	HP:0004756	Ventricular tachycardia
54539	NDUFB11	HP:0011923	Decreased activity of mitochondrial complex I
54539	NDUFB11	HP:0010529	Echolalia
54539	NDUFB11	HP:0003577	Congenital onset
54539	NDUFB11	HP:0002240	Hepatomegaly
54539	NDUFB11	HP:0003542	Increased serum pyruvate
54539	NDUFB11	HP:0011968	Feeding difficulties
54539	NDUFB11	HP:0008316	Abnormal mitochondria in muscle tissue
54539	NDUFB11	HP:0003510	Severe short stature
54539	NDUFB11	HP:0001053	Hypopigmented skin patches
54539	NDUFB11	HP:0002381	Aphasia
54539	NDUFB11	HP:0002352	Leukoencephalopathy
54539	NDUFB11	HP:0001000	Abnormality of skin pigmentation
54539	NDUFB11	HP:0010783	Erythema
54539	NDUFB11	HP:0002300	Mutism
54539	NDUFB11	HP:0000639	Nystagmus
54539	NDUFB11	HP:0000646	Amblyopia
54539	NDUFB11	HP:0000647	Sclerocornea
54539	NDUFB11	HP:0000618	Blindness
54539	NDUFB11	HP:0000612	Iris coloboma
54539	NDUFB11	HP:0001943	Hypoglycemia
54539	NDUFB11	HP:0000614	Abnormal nasolacrimal system morphology
54539	NDUFB11	HP:0001942	Metabolic acidosis
54539	NDUFB11	HP:0000627	Posterior embryotoxon
54539	NDUFB11	HP:0000682	Abnormal dental enamel morphology
54539	NDUFB11	HP:0000680	Delayed eruption of primary teeth
54539	NDUFB11	HP:0000659	Peters anomaly
54539	NDUFB11	HP:0001999	Abnormal facial shape
54539	NDUFB11	HP:0004322	Short stature
54539	NDUFB11	HP:0004334	Dermal atrophy
54539	NDUFB11	HP:0004327	Abnormal vitreous humor morphology
54539	NDUFB11	HP:0004302	Functional motor deficit
54539	NDUFB11	HP:0006956	Lateral ventricle dilatation
54539	NDUFB11	HP:0004378	Abnormality of the anus
54539	NDUFB11	HP:0034197	Third trimester onset
54539	NDUFB11	HP:0012748	Focal T2 hyperintense brainstem lesion
54539	NDUFB11	HP:0000776	Congenital diaphragmatic hernia
54539	NDUFB11	HP:0003128	Lactic acidosis
54539	NDUFB11	HP:0011531	Vitritis
54539	NDUFB11	HP:0012861	Ovotestis
54539	NDUFB11	HP:0000819	Diabetes mellitus
54539	NDUFB11	HP:0000817	Reduced eye contact
54539	NDUFB11	HP:0000954	Single transverse palmar crease
54539	NDUFB11	HP:0000953	Hyperpigmentation of the skin
54539	NDUFB11	HP:0000960	Sacral dimple
54539	NDUFB11	HP:0008065	Aplasia/Hypoplasia of the skin
54539	NDUFB11	HP:0011675	Arrhythmia
54539	NDUFB11	HP:0007703	Abnormality of retinal pigmentation
54539	NDUFB11	HP:0007704	Paroxysmal involuntary eye movements
54539	NDUFB11	HP:0000278	Retrognathia
54539	NDUFB11	HP:0001597	Abnormality of the nail
54539	NDUFB11	HP:0007731	Chorioretinal dysplasia
54539	NDUFB11	HP:0000238	Hydrocephalus
54539	NDUFB11	HP:0000252	Microcephaly
54539	NDUFB11	HP:0001582	Redundant skin
54539	NDUFB11	HP:0002878	Respiratory failure
54539	NDUFB11	HP:0001545	Anteriorly placed anus
54539	NDUFB11	HP:0001508	Failure to thrive
54539	NDUFB11	HP:0030048	Colpocephaly
54539	NDUFB11	HP:0001511	Intrauterine growth retardation
54539	NDUFB11	HP:0001510	Growth delay
54539	NDUFB11	HP:0011027	Abnormal fallopian tube morphology
54539	NDUFB11	HP:0005180	Tricuspid regurgitation
54539	NDUFB11	HP:0005152	Histiocytoid cardiomyopathy
54539	NDUFB11	HP:0000363	Abnormal earlobe morphology
54539	NDUFB11	HP:0000365	Hearing impairment
54539	NDUFB11	HP:0001695	Cardiac arrest
54539	NDUFB11	HP:0011003	High myopia
54539	NDUFB11	HP:0001671	Abnormal cardiac septum morphology
54539	NDUFB11	HP:0000347	Micrognathia
54539	NDUFB11	HP:0001644	Dilated cardiomyopathy
54539	NDUFB11	HP:0001663	Ventricular fibrillation
54539	NDUFB11	HP:0001653	Mitral regurgitation
54539	NDUFB11	HP:0001629	Ventricular septal defect
54539	NDUFB11	HP:0001622	Premature birth
54539	NDUFB11	HP:0001639	Hypertrophic cardiomyopathy
54539	NDUFB11	HP:0001635	Congestive heart failure
54539	NDUFB11	HP:0001631	Atrial septal defect
54539	NDUFB11	HP:0001634	Mitral valve prolapse
54539	NDUFB11	HP:0007957	Corneal opacity
54539	NDUFB11	HP:0000499	Abnormal eyelash morphology
54539	NDUFB11	HP:0007973	Retinal dysplasia
54539	NDUFB11	HP:0000407	Sensorineural hearing impairment
54539	NDUFB11	HP:0001704	Tricuspid valve prolapse
54539	NDUFB11	HP:0000486	Strabismus
54539	NDUFB11	HP:0000492	Abnormal eyelid morphology
54539	NDUFB11	HP:0000445	Wide nose
54539	NDUFB11	HP:0000431	Wide nasal bridge
54539	NDUFB11	HP:0000518	Cataract
54539	NDUFB11	HP:0000528	Anophthalmia
54539	NDUFB11	HP:0000508	Ptosis
54539	NDUFB11	HP:0000501	Glaucoma
54539	NDUFB11	HP:0011265	Cleft earlobe
54539	NDUFB11	HP:0000598	Abnormality of the ear
54539	NDUFB11	HP:0000580	Pigmentary retinopathy
54539	NDUFB11	HP:0000556	Retinal dystrophy
54539	NDUFB11	HP:0000572	Visual loss
54539	NDUFB11	HP:0000568	Microphthalmia
54539	NDUFB11	HP:0000564	Lacrimal duct atresia
54539	NDUFB11	HP:0000543	Optic disc pallor
54539	NDUFB11	HP:0000545	Myopia
54551	MAGEL2	HP:0001182	Tapered finger
54551	MAGEL2	HP:0001156	Brachydactyly
54551	MAGEL2	HP:0002494	Abnormal rapid eye movement sleep
54551	MAGEL2	HP:0001159	Syndactyly
54551	MAGEL2	HP:0007328	Impaired pain sensation
54551	MAGEL2	HP:0025160	Abnormal temper tantrums
54551	MAGEL2	HP:0003745	Sporadic
54551	MAGEL2	HP:0001290	Generalized hypotonia
54551	MAGEL2	HP:0001270	Motor delay
54551	MAGEL2	HP:0025237	Confusional arousal
54551	MAGEL2	HP:0001254	Lethargy
54551	MAGEL2	HP:0001256	Intellectual disability, mild
54551	MAGEL2	HP:0001250	Seizure
54551	MAGEL2	HP:0001252	Hypotonia
54551	MAGEL2	HP:0001249	Intellectual disability
54551	MAGEL2	HP:0002578	Gastroparesis
54551	MAGEL2	HP:0002591	Polyphagia
54551	MAGEL2	HP:0001263	Global developmental delay
54551	MAGEL2	HP:0008770	Obsessive-compulsive trait
54551	MAGEL2	HP:0008734	Decreased testicular size
54551	MAGEL2	HP:0410263	Brain imaging abnormality
54551	MAGEL2	HP:0002540	Inability to walk
54551	MAGEL2	HP:0000064	Hypoplastic labia minora
54551	MAGEL2	HP:0000060	Clitoral hypoplasia
54551	MAGEL2	HP:0000044	Hypogonadotropic hypogonadism
54551	MAGEL2	HP:0000046	Small scrotum
54551	MAGEL2	HP:0001371	Flexion contracture
54551	MAGEL2	HP:0000054	Micropenis
54551	MAGEL2	HP:0001385	Hip dysplasia
54551	MAGEL2	HP:0000028	Cryptorchidism
54551	MAGEL2	HP:0008872	Feeding difficulties in infancy
54551	MAGEL2	HP:0007513	Generalized hypopigmentation
54551	MAGEL2	HP:0031169	Postterm pregnancy
54551	MAGEL2	HP:0001328	Specific learning disability
54551	MAGEL2	HP:0001344	Absent speech
54551	MAGEL2	HP:0000006	Autosomal dominant inheritance
54551	MAGEL2	HP:0002650	Scoliosis
54551	MAGEL2	HP:0001319	Neonatal hypotonia
54551	MAGEL2	HP:0001315	Reduced tendon reflexes
54551	MAGEL2	HP:0031100	Decreased inhibin B level
54551	MAGEL2	HP:0000194	Open mouth
54551	MAGEL2	HP:0012166	Skin-picking
54551	MAGEL2	HP:0000135	Hypogonadism
54551	MAGEL2	HP:0008947	Infantile muscular hypotonia
54551	MAGEL2	HP:0012104	Parietal cortical atrophy
54551	MAGEL2	HP:0012105	Occipital cortical atrophy
54551	MAGEL2	HP:0002791	Hypoventilation
54551	MAGEL2	HP:0002714	Downturned corners of mouth
54551	MAGEL2	HP:0002020	Gastroesophageal reflux
54551	MAGEL2	HP:0002019	Constipation
54551	MAGEL2	HP:0002033	Poor suck
54551	MAGEL2	HP:0002007	Frontal bossing
54551	MAGEL2	HP:0005968	Temperature instability
54551	MAGEL2	HP:0005978	Type II diabetes mellitus
54551	MAGEL2	HP:0100543	Cognitive impairment
54551	MAGEL2	HP:0030919	Low 5-minute APGAR score
54551	MAGEL2	HP:0030918	Low 1-minute APGAR score
54551	MAGEL2	HP:0009466	Radial deviation of finger
54551	MAGEL2	HP:0011734	Central adrenal insufficiency
54551	MAGEL2	HP:0008197	Absence of pubertal development
54551	MAGEL2	HP:0040288	Nasogastric tube feeding
54551	MAGEL2	HP:0011787	Central hypothyroidism
54551	MAGEL2	HP:0002119	Ventriculomegaly
54551	MAGEL2	HP:0010536	Central sleep apnea
54551	MAGEL2	HP:0010535	Sleep apnea
54551	MAGEL2	HP:0003593	Infantile onset
54551	MAGEL2	HP:0003577	Congenital onset
54551	MAGEL2	HP:0002236	Frontal upsweep of hair
54551	MAGEL2	HP:0100710	Impulsivity
54551	MAGEL2	HP:0100716	Self-injurious behavior
54551	MAGEL2	HP:0002205	Recurrent respiratory infections
54551	MAGEL2	HP:0100739	Bulimia
54551	MAGEL2	HP:0007010	Poor fine motor coordination
54551	MAGEL2	HP:0007015	Poor gross motor coordination
54551	MAGEL2	HP:0007018	Attention deficit hyperactivity disorder
54551	MAGEL2	HP:0011968	Feeding difficulties
54551	MAGEL2	HP:0010627	Anterior pituitary hypoplasia
54551	MAGEL2	HP:0002360	Sleep disturbance
54551	MAGEL2	HP:0002342	Intellectual disability, moderate
54551	MAGEL2	HP:0001010	Hypopigmentation of the skin
54551	MAGEL2	HP:0010829	Impaired temperature sensation
54551	MAGEL2	HP:0200055	Small hand
54551	MAGEL2	HP:0033454	Tube feeding
54551	MAGEL2	HP:0010741	Pedal edema
54551	MAGEL2	HP:0003623	Neonatal onset
54551	MAGEL2	HP:0031878	Acromicria
54551	MAGEL2	HP:0009088	Speech articulation difficulties
54551	MAGEL2	HP:0004283	Narrow palm
54551	MAGEL2	HP:0005599	Hypopigmentation of hair
54551	MAGEL2	HP:0004279	Short palm
54551	MAGEL2	HP:0006889	Intellectual disability, borderline
54551	MAGEL2	HP:0012650	Perisylvian polymicrogyria
54551	MAGEL2	HP:0001989	Fetal akinesia sequence
54551	MAGEL2	HP:0000670	Carious teeth
54551	MAGEL2	HP:0001999	Abnormal facial shape
54551	MAGEL2	HP:0004324	Increased body weight
54551	MAGEL2	HP:0004322	Short stature
54551	MAGEL2	HP:0031936	Delayed ability to walk
54551	MAGEL2	HP:0012745	Short palpebral fissure
54551	MAGEL2	HP:0012743	Abdominal obesity
54551	MAGEL2	HP:0000750	Delayed speech and language development
54551	MAGEL2	HP:0000717	Autism
54551	MAGEL2	HP:0000729	Autistic behavior
54551	MAGEL2	HP:0000722	Compulsive behaviors
54551	MAGEL2	HP:0000709	Psychosis
54551	MAGEL2	HP:0000708	Atypical behavior
54551	MAGEL2	HP:0011461	Fetal onset
54551	MAGEL2	HP:0012758	Neurodevelopmental delay
54551	MAGEL2	HP:0000789	Infertility
54551	MAGEL2	HP:0000786	Primary amenorrhea
54551	MAGEL2	HP:0003199	Decreased muscle mass
54551	MAGEL2	HP:0000876	Oligomenorrhea
54551	MAGEL2	HP:0000846	Adrenal insufficiency
54551	MAGEL2	HP:0000842	Hyperinsulinemia
54551	MAGEL2	HP:0000819	Diabetes mellitus
54551	MAGEL2	HP:0000826	Precocious puberty
54551	MAGEL2	HP:0000824	Decreased response to growth hormone stimulation test
54551	MAGEL2	HP:0000823	Delayed puberty
54551	MAGEL2	HP:0040030	Chorioretinal hypopigmentation
54551	MAGEL2	HP:0003241	External genital hypoplasia
54551	MAGEL2	HP:0000992	Cutaneous photosensitivity
54551	MAGEL2	HP:0000939	Osteoporosis
54551	MAGEL2	HP:0000938	Osteopenia
54551	MAGEL2	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency
54551	MAGEL2	HP:0000288	Abnormality of the philtrum
54551	MAGEL2	HP:0000280	Coarse facial features
54551	MAGEL2	HP:0000278	Retrognathia
54551	MAGEL2	HP:0000268	Dolichocephaly
54551	MAGEL2	HP:0007730	Iris hypopigmentation
54551	MAGEL2	HP:0030084	Clinodactyly
54551	MAGEL2	HP:0002808	Kyphosis
54551	MAGEL2	HP:0002804	Arthrogryposis multiplex congenita
54551	MAGEL2	HP:0000217	Xerostomia
54551	MAGEL2	HP:0000219	Thin upper lip vermilion
54551	MAGEL2	HP:0001562	Oligohydramnios
54551	MAGEL2	HP:0001561	Polyhydramnios
54551	MAGEL2	HP:0001558	Decreased fetal movement
54551	MAGEL2	HP:0001531	Failure to thrive in infancy
54551	MAGEL2	HP:0002857	Genu valgum
54551	MAGEL2	HP:0002870	Obstructive sleep apnea
54551	MAGEL2	HP:0002871	Central apnea
54551	MAGEL2	HP:0001508	Failure to thrive
54551	MAGEL2	HP:0001518	Small for gestational age
54551	MAGEL2	HP:0001511	Intrauterine growth retardation
54551	MAGEL2	HP:0001513	Obesity
54551	MAGEL2	HP:0031507	Decreased circulating T4 concentration
54551	MAGEL2	HP:0012385	Camptodactyly
54551	MAGEL2	HP:0007874	Almond-shaped palpebral fissure
54551	MAGEL2	HP:0001612	Weak cry
54551	MAGEL2	HP:0000369	Low-set ears
54551	MAGEL2	HP:0000341	Narrow forehead
54551	MAGEL2	HP:0001623	Breech presentation
54551	MAGEL2	HP:0001631	Atrial septal defect
54551	MAGEL2	HP:0000303	Mandibular prognathia
54551	MAGEL2	HP:0004039	Abnormal ulnar metaphysis morphology
54551	MAGEL2	HP:0000486	Strabismus
54551	MAGEL2	HP:0000478	Abnormality of the eye
54551	MAGEL2	HP:0012450	Chronic constipation
54551	MAGEL2	HP:0001773	Short foot
54551	MAGEL2	HP:0012411	Premature pubarche
54551	MAGEL2	HP:0012412	Premature adrenarche
54551	MAGEL2	HP:0000446	Narrow nasal bridge
54551	MAGEL2	HP:0012506	Small pituitary gland
54551	MAGEL2	HP:0001838	Rocker bottom foot
54551	MAGEL2	HP:0000504	Abnormality of vision
54551	MAGEL2	HP:0030339	Decreased circulating gonadotropin concentration
54551	MAGEL2	HP:0000582	Upslanted palpebral fissure
54551	MAGEL2	HP:0000574	Thick eyebrow
54551	MAGEL2	HP:0000565	Esotropia
54551	MAGEL2	HP:0000540	Hypermetropia
54551	MAGEL2	HP:0000545	Myopia
54567	DLL4	HP:0001171	Split hand
54567	DLL4	HP:0001156	Brachydactyly
54567	DLL4	HP:0001159	Syndactyly
54567	DLL4	HP:0009882	Short distal phalanx of finger
54567	DLL4	HP:0001276	Hypertonia
54567	DLL4	HP:0001269	Hemiparesis
54567	DLL4	HP:0001250	Seizure
54567	DLL4	HP:0001249	Intellectual disability
54567	DLL4	HP:0006101	Finger syndactyly
54567	DLL4	HP:0007383	Congenital localized absence of skin
54567	DLL4	HP:0007385	Aplasia cutis congenita of scalp
54567	DLL4	HP:0000089	Renal hypoplasia
54567	DLL4	HP:0001395	Hepatic fibrosis
54567	DLL4	HP:0001394	Cirrhosis
54567	DLL4	HP:0001362	Calvarial skull defect
54567	DLL4	HP:0000006	Autosomal dominant inheritance
54567	DLL4	HP:0002612	Congenital hepatic fibrosis
54567	DLL4	HP:0001409	Portal hypertension
54567	DLL4	HP:0002084	Encephalocele
54567	DLL4	HP:0002092	Pulmonary arterial hypertension
54567	DLL4	HP:0002040	Esophageal varix
54567	DLL4	HP:0005916	Abnormal metacarpal morphology
54567	DLL4	HP:0002132	Porencephalic cyst
54567	DLL4	HP:0003577	Congenital onset
54567	DLL4	HP:0002239	Gastrointestinal hemorrhage
54567	DLL4	HP:0010628	Facial palsy
54567	DLL4	HP:0010624	Aplastic/hypoplastic toenail
54567	DLL4	HP:0001057	Aplasia cutis congenita
54567	DLL4	HP:0002353	EEG abnormality
54567	DLL4	HP:0200042	Skin ulcer
54567	DLL4	HP:0010760	Absent toe
54567	DLL4	HP:0004935	Pulmonary artery atresia
54567	DLL4	HP:0006970	Periventricular leukomalacia
54567	DLL4	HP:0003010	Prolonged bleeding time
54567	DLL4	HP:0004348	Abnormality of bone mineral density
54567	DLL4	HP:0100026	Arteriovenous malformation
54567	DLL4	HP:0004471	Aplasia cutis congenita over the scalp vertex
54567	DLL4	HP:0010301	Spinal dysraphism
54567	DLL4	HP:0000965	Cutis marmorata
54567	DLL4	HP:0008070	Sparse hair
54567	DLL4	HP:0008065	Aplasia/Hypoplasia of the skin
54567	DLL4	HP:0001596	Alopecia
54567	DLL4	HP:0002817	Abnormality of the upper limb
54567	DLL4	HP:0002814	Abnormality of the lower limb
54567	DLL4	HP:0000238	Hydrocephalus
54567	DLL4	HP:0001541	Ascites
54567	DLL4	HP:0001508	Failure to thrive
54567	DLL4	HP:0005180	Tricuspid regurgitation
54567	DLL4	HP:0001660	Truncus arteriosus
54567	DLL4	HP:0001629	Ventricular septal defect
54567	DLL4	HP:0001622	Premature birth
54567	DLL4	HP:0001641	Abnormal pulmonary valve morphology
54567	DLL4	HP:0001636	Tetralogy of Fallot
54567	DLL4	HP:0004050	Absent hand
54567	DLL4	HP:0000486	Strabismus
54567	DLL4	HP:0001770	Toe syndactyly
54567	DLL4	HP:0001744	Splenomegaly
54567	DLL4	HP:0001849	Foot oligodactyly
54567	DLL4	HP:0000518	Cataract
54567	DLL4	HP:0001804	Hypoplastic fingernail
54567	DLL4	HP:0001800	Hypoplastic toenails
54567	DLL4	HP:0001817	Absent fingernail
54567	DLL4	HP:0000568	Microphthalmia
54567	DLL4	HP:0001883	Talipes
54567	DLL4	HP:0001882	Leukopenia
54567	DLL4	HP:0001873	Thrombocytopenia
54583	EGLN1	HP:0000006	Autosomal dominant inheritance
54583	EGLN1	HP:0001900	Increased hemoglobin
54583	EGLN1	HP:0001899	Increased hematocrit
54583	EGLN1	HP:0001898	Increased red blood cell mass
54585	LZTFL1	HP:0001156	Brachydactyly
54585	LZTFL1	HP:0001162	Postaxial hand polydactyly
54585	LZTFL1	HP:0003774	Stage 5 chronic kidney disease
54585	LZTFL1	HP:0001249	Intellectual disability
54585	LZTFL1	HP:0001263	Global developmental delay
54585	LZTFL1	HP:0006101	Finger syndactyly
54585	LZTFL1	HP:0007401	Macular atrophy
54585	LZTFL1	HP:0008736	Hypoplasia of penis
54585	LZTFL1	HP:0008724	Hypoplasia of the ovary
54585	LZTFL1	HP:0001395	Hepatic fibrosis
54585	LZTFL1	HP:0000054	Micropenis
54585	LZTFL1	HP:0000028	Cryptorchidism
54585	LZTFL1	HP:0006159	Mesoaxial hand polydactyly
54585	LZTFL1	HP:0000007	Autosomal recessive inheritance
54585	LZTFL1	HP:0000003	Multicystic kidney dysplasia
54585	LZTFL1	HP:0000135	Hypogonadism
54585	LZTFL1	HP:0000100	Nephrotic syndrome
54585	LZTFL1	HP:0000107	Renal cyst
54585	LZTFL1	HP:0000103	Polyuria
54585	LZTFL1	HP:0004689	Short fourth metatarsal
54585	LZTFL1	HP:0100543	Cognitive impairment
54585	LZTFL1	HP:0010442	Polydactyly
54585	LZTFL1	HP:0002167	Abnormality of speech or vocalization
54585	LZTFL1	HP:0003577	Congenital onset
54585	LZTFL1	HP:0002230	Generalized hirsutism
54585	LZTFL1	HP:0002370	Poor coordination
54585	LZTFL1	HP:0010747	Medial flaring of the eyebrow
54585	LZTFL1	HP:0000639	Nystagmus
54585	LZTFL1	HP:0001959	Polydipsia
54585	LZTFL1	HP:0004322	Short stature
54585	LZTFL1	HP:0004409	Hyposmia
54585	LZTFL1	HP:0000822	Hypertension
54585	LZTFL1	HP:0003202	Skeletal muscle atrophy
54585	LZTFL1	HP:0100260	Mesoaxial polydactyly
54585	LZTFL1	HP:0007737	Bone spicule pigmentation of the retina
54585	LZTFL1	HP:0001513	Obesity
54585	LZTFL1	HP:0001696	Situs inversus totalis
54585	LZTFL1	HP:0000365	Hearing impairment
54585	LZTFL1	HP:0000368	Low-set, posteriorly rotated ears
54585	LZTFL1	HP:0001651	Dextrocardia
54585	LZTFL1	HP:0000494	Downslanted palpebral fissures
54585	LZTFL1	HP:0000458	Anosmia
54585	LZTFL1	HP:0000470	Short neck
54585	LZTFL1	HP:0000426	Prominent nasal bridge
54585	LZTFL1	HP:0000510	Rod-cone dystrophy
54585	LZTFL1	HP:0000512	Abnormal electroretinogram
54585	LZTFL1	HP:0000505	Visual impairment
54585	LZTFL1	HP:0001830	Postaxial foot polydactyly
54585	LZTFL1	HP:0000580	Pigmentary retinopathy
54585	LZTFL1	HP:0000546	Retinal degeneration
54585	LZTFL1	HP:0000548	Cone/cone-rod dystrophy
54658	UGT1A1	HP:0001298	Encephalopathy
54658	UGT1A1	HP:0001250	Seizure
54658	UGT1A1	HP:0001249	Intellectual disability
54658	UGT1A1	HP:0001399	Hepatic failure
54658	UGT1A1	HP:0001392	Abnormality of the liver
54658	UGT1A1	HP:0001343	Kernicterus
54658	UGT1A1	HP:0000007	Autosomal recessive inheritance
54658	UGT1A1	HP:0001337	Tremor
54658	UGT1A1	HP:0008947	Infantile muscular hypotonia
54658	UGT1A1	HP:0008176	Neonatal unconjugated hyperbilirubinemia
54658	UGT1A1	HP:0008282	Unconjugated hyperbilirubinemia
54658	UGT1A1	HP:0003577	Congenital onset
54658	UGT1A1	HP:0002354	Memory impairment
54658	UGT1A1	HP:0001080	Biliary tract abnormality
54658	UGT1A1	HP:0003623	Neonatal onset
54658	UGT1A1	HP:0000750	Delayed speech and language development
54658	UGT1A1	HP:0003265	Neonatal hyperbilirubinemia
54658	UGT1A1	HP:0000952	Jaundice
54658	UGT1A1	HP:0012246	Oculomotor nerve palsy
54658	UGT1A1	HP:0006579	Prolonged neonatal jaundice
54658	UGT1A1	HP:0002910	Elevated hepatic transaminase
54658	UGT1A1	HP:0000365	Hearing impairment
54664	TMEM106B	HP:0001152	Saccadic smooth pursuit
54664	TMEM106B	HP:0002493	Upper motor neuron dysfunction
54664	TMEM106B	HP:0002465	Poor speech
54664	TMEM106B	HP:0002442	Dyscalculia
54664	TMEM106B	HP:0002446	Astrocytosis
54664	TMEM106B	HP:0007256	Abnormal pyramidal sign
54664	TMEM106B	HP:0002415	Leukodystrophy
54664	TMEM106B	HP:0002427	Expressive aphasia
54664	TMEM106B	HP:0001297	Stroke
54664	TMEM106B	HP:0001276	Hypertonia
54664	TMEM106B	HP:0001268	Mental deterioration
54664	TMEM106B	HP:0001288	Gait disturbance
54664	TMEM106B	HP:0001250	Seizure
54664	TMEM106B	HP:0001252	Hypotonia
54664	TMEM106B	HP:0001249	Intellectual disability
54664	TMEM106B	HP:0001266	Choreoathetosis
54664	TMEM106B	HP:0001260	Dysarthria
54664	TMEM106B	HP:0001263	Global developmental delay
54664	TMEM106B	HP:0002500	Abnormal cerebral white matter morphology
54664	TMEM106B	HP:0012043	Pendular nystagmus
54664	TMEM106B	HP:0001348	Brisk reflexes
54664	TMEM106B	HP:0001347	Hyperreflexia
54664	TMEM106B	HP:0001332	Dystonia
54664	TMEM106B	HP:0001344	Absent speech
54664	TMEM106B	HP:0000006	Autosomal dominant inheritance
54664	TMEM106B	HP:0001310	Dysmetria
54664	TMEM106B	HP:0001300	Parkinsonism
54664	TMEM106B	HP:0025403	Stooped posture
54664	TMEM106B	HP:0002080	Intention tremor
54664	TMEM106B	HP:0002069	Bilateral tonic-clonic seizure
54664	TMEM106B	HP:0002066	Gait ataxia
54664	TMEM106B	HP:0002079	Hypoplasia of the corpus callosum
54664	TMEM106B	HP:0002071	Abnormality of extrapyramidal motor function
54664	TMEM106B	HP:0002145	Frontotemporal dementia
54664	TMEM106B	HP:0002136	Broad-based gait
54664	TMEM106B	HP:0002188	Delayed CNS myelination
54664	TMEM106B	HP:0002186	Apraxia
54664	TMEM106B	HP:0002185	Neurofibrillary tangles
54664	TMEM106B	HP:0002167	Abnormality of speech or vocalization
54664	TMEM106B	HP:0010544	Vertical nystagmus
54664	TMEM106B	HP:0010529	Echolalia
54664	TMEM106B	HP:0010522	Dyslexia
54664	TMEM106B	HP:0010526	Dysgraphia
54664	TMEM106B	HP:0010523	Alexia
54664	TMEM106B	HP:0003593	Infantile onset
54664	TMEM106B	HP:0003577	Congenital onset
54664	TMEM106B	HP:0011968	Feeding difficulties
54664	TMEM106B	HP:0002380	Fasciculations
54664	TMEM106B	HP:0002381	Aphasia
54664	TMEM106B	HP:0002366	Abnormal lower motor neuron morphology
54664	TMEM106B	HP:0002362	Shuffling gait
54664	TMEM106B	HP:0002371	Loss of speech
54664	TMEM106B	HP:0002354	Memory impairment
54664	TMEM106B	HP:0007112	Temporal cortical atrophy
54664	TMEM106B	HP:0002300	Mutism
54664	TMEM106B	HP:0006892	Frontotemporal cerebral atrophy
54664	TMEM106B	HP:0000640	Gaze-evoked nystagmus
54664	TMEM106B	HP:0000639	Nystagmus
54664	TMEM106B	HP:0012671	Abulia
54664	TMEM106B	HP:0012658	Abnormal brain FDG positron emission tomography
54664	TMEM106B	HP:0000666	Horizontal nystagmus
54664	TMEM106B	HP:0006977	Deficit in grammar
54664	TMEM106B	HP:0030692	Brain neoplasm
54664	TMEM106B	HP:0031936	Delayed ability to walk
54664	TMEM106B	HP:0000757	Lack of insight
54664	TMEM106B	HP:0000751	Personality changes
54664	TMEM106B	HP:0000737	Irritability
54664	TMEM106B	HP:0000739	Anxiety
54664	TMEM106B	HP:0000734	Disinhibition
54664	TMEM106B	HP:0000733	Abnormal repetitive mannerisms
54664	TMEM106B	HP:0000750	Delayed speech and language development
54664	TMEM106B	HP:0000741	Apathy
54664	TMEM106B	HP:0000719	Inappropriate behavior
54664	TMEM106B	HP:0000716	Depression
54664	TMEM106B	HP:0000718	Aggressive behavior
54664	TMEM106B	HP:0000711	Restlessness
54664	TMEM106B	HP:0000710	Hyperorality
54664	TMEM106B	HP:0000726	Dementia
54664	TMEM106B	HP:0000723	Restrictive behavior
54664	TMEM106B	HP:0000709	Psychosis
54664	TMEM106B	HP:0000708	Atypical behavior
54664	TMEM106B	HP:0030784	Anomic aphasia
54664	TMEM106B	HP:0100315	Lewy bodies
54664	TMEM106B	HP:0100256	Senile plaques
54664	TMEM106B	HP:0001583	Rotary nystagmus
54664	TMEM106B	HP:0001508	Failure to thrive
54664	TMEM106B	HP:0007811	Horizontal pendular nystagmus
54664	TMEM106B	HP:0030213	Emotional blunting
54664	TMEM106B	HP:0030212	Collectionism
54664	TMEM106B	HP:0030223	Manifestations of perseverative thought or action
54664	TMEM106B	HP:0030222	Visual agnosia
54664	TMEM106B	HP:0012444	Brain atrophy
54664	TMEM106B	HP:0000474	Thickened nuchal skin fold
54664	TMEM106B	HP:0011204	EEG with continuous slow activity
54664	TMEM106B	HP:0030391	Spoken word recognition deficit
54664	TMEM106B	HP:0000543	Optic disc pallor
54676	GTPBP2	HP:0001188	Hand clenching
54676	GTPBP2	HP:0002460	Distal muscle weakness
54676	GTPBP2	HP:0001270	Motor delay
54676	GTPBP2	HP:0001252	Hypotonia
54676	GTPBP2	HP:0001249	Intellectual disability
54676	GTPBP2	HP:0001266	Choreoathetosis
54676	GTPBP2	HP:0001263	Global developmental delay
54676	GTPBP2	HP:0002540	Inability to walk
54676	GTPBP2	HP:0001387	Joint stiffness
54676	GTPBP2	HP:0001382	Joint hypermobility
54676	GTPBP2	HP:0001348	Brisk reflexes
54676	GTPBP2	HP:0001332	Dystonia
54676	GTPBP2	HP:0001324	Muscle weakness
54676	GTPBP2	HP:0000007	Autosomal recessive inheritance
54676	GTPBP2	HP:0001337	Tremor
54676	GTPBP2	HP:0001310	Dysmetria
54676	GTPBP2	HP:0001305	Dandy-Walker malformation
54676	GTPBP2	HP:0002650	Scoliosis
54676	GTPBP2	HP:0002069	Bilateral tonic-clonic seizure
54676	GTPBP2	HP:0002066	Gait ataxia
54676	GTPBP2	HP:0002079	Hypoplasia of the corpus callosum
54676	GTPBP2	HP:0002136	Broad-based gait
54676	GTPBP2	HP:0003593	Infantile onset
54676	GTPBP2	HP:0002213	Fine hair
54676	GTPBP2	HP:0002299	Brittle hair
54676	GTPBP2	HP:0006855	Cerebellar vermis atrophy
54676	GTPBP2	HP:0000648	Optic atrophy
54676	GTPBP2	HP:0011344	Severe global developmental delay
54676	GTPBP2	HP:0000653	Sparse eyelashes
54676	GTPBP2	HP:0000768	Pectus carinatum
54676	GTPBP2	HP:0011463	Childhood onset
54676	GTPBP2	HP:0003196	Short nose
54676	GTPBP2	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging
54676	GTPBP2	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging
54676	GTPBP2	HP:0045075	Sparse eyebrow
54676	GTPBP2	HP:0034353	Appendicular spasticity
54676	GTPBP2	HP:0008070	Sparse hair
54676	GTPBP2	HP:0002808	Kyphosis
54676	GTPBP2	HP:0000252	Microcephaly
54676	GTPBP2	HP:0000207	Triangular mouth
54676	GTPBP2	HP:0001508	Failure to thrive
54676	GTPBP2	HP:0000369	Low-set ears
54676	GTPBP2	HP:0000341	Narrow forehead
54676	GTPBP2	HP:0005280	Depressed nasal bridge
54676	GTPBP2	HP:0000411	Protruding ear
54676	GTPBP2	HP:0001762	Talipes equinovarus
54676	GTPBP2	HP:0000518	Cataract
54676	GTPBP2	HP:0000505	Visual impairment
54676	GTPBP2	HP:0000545	Myopia
54681	P4HTM	HP:0001290	Generalized hypotonia
54681	P4HTM	HP:0001250	Seizure
54681	P4HTM	HP:0001263	Global developmental delay
54681	P4HTM	HP:0002540	Inability to walk
54681	P4HTM	HP:0006094	Finger joint hypermobility
54681	P4HTM	HP:0012043	Pendular nystagmus
54681	P4HTM	HP:0000007	Autosomal recessive inheritance
54681	P4HTM	HP:0002650	Scoliosis
54681	P4HTM	HP:0002791	Hypoventilation
54681	P4HTM	HP:0002019	Constipation
54681	P4HTM	HP:0002045	Hypothermia
54681	P4HTM	HP:0002187	Intellectual disability, profound
54681	P4HTM	HP:0010535	Sleep apnea
54681	P4HTM	HP:0003593	Infantile onset
54681	P4HTM	HP:0100704	Cerebral visual impairment
54681	P4HTM	HP:0002317	Unsteady gait
54681	P4HTM	HP:0000646	Amblyopia
54681	P4HTM	HP:0000648	Optic atrophy
54681	P4HTM	HP:0001945	Fever
54681	P4HTM	HP:0004322	Short stature
54681	P4HTM	HP:0004370	Abnormality of temperature regulation
54681	P4HTM	HP:0031936	Delayed ability to walk
54681	P4HTM	HP:0003273	Hip contracture
54681	P4HTM	HP:0000280	Coarse facial features
54681	P4HTM	HP:0002808	Kyphosis
54681	P4HTM	HP:0000252	Microcephaly
54681	P4HTM	HP:0002857	Genu valgum
54681	P4HTM	HP:0001513	Obesity
54681	P4HTM	HP:0006532	Recurrent pneumonia
54681	P4HTM	HP:0002987	Elbow flexion contracture
54681	P4HTM	HP:0000303	Mandibular prognathia
54681	P4HTM	HP:0011185	EEG with focal epileptiform discharges
54681	P4HTM	HP:0005280	Depressed nasal bridge
54681	P4HTM	HP:0000483	Astigmatism
54681	P4HTM	HP:0000486	Strabismus
54681	P4HTM	HP:0012471	Thick vermilion border
54681	P4HTM	HP:0000496	Abnormality of eye movement
54681	P4HTM	HP:0000577	Exotropia
54681	P4HTM	HP:0011220	Prominent forehead
54681	P4HTM	HP:0011203	EEG with abnormally slow frequencies
54681	P4HTM	HP:0000540	Hypermetropia
54681	P4HTM	HP:0000545	Myopia
54704	PDP1	HP:0001290	Generalized hypotonia
54704	PDP1	HP:0001250	Seizure
54704	PDP1	HP:0001252	Hypotonia
54704	PDP1	HP:0001249	Intellectual disability
54704	PDP1	HP:0001263	Global developmental delay
54704	PDP1	HP:0410263	Brain imaging abnormality
54704	PDP1	HP:0000007	Autosomal recessive inheritance
54704	PDP1	HP:0001319	Neonatal hypotonia
54704	PDP1	HP:0008936	Axial hypotonia
54704	PDP1	HP:0003348	Hyperalaninemia
54704	PDP1	HP:0002015	Dysphagia
54704	PDP1	HP:0040328	Focal hyperintensity of cerebral white matter on MRI
54704	PDP1	HP:0002066	Gait ataxia
54704	PDP1	HP:0002151	Increased serum lactate
54704	PDP1	HP:0003593	Infantile onset
54704	PDP1	HP:0008358	Hyperprolinemia
54704	PDP1	HP:0003648	Lacticaciduria
54704	PDP1	HP:0000639	Nystagmus
54704	PDP1	HP:0011342	Mild global developmental delay
54704	PDP1	HP:0003128	Lactic acidosis
54704	PDP1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
54714	CNGB3	HP:0001141	Severely reduced visual acuity
54714	CNGB3	HP:0001103	Abnormal macular morphology
54714	CNGB3	HP:0012043	Pendular nystagmus
54714	CNGB3	HP:0000007	Autosomal recessive inheritance
54714	CNGB3	HP:0007663	Reduced visual acuity
54714	CNGB3	HP:0007641	Dyschromatopsia
54714	CNGB3	HP:0030500	Yellow/white lesions of the macula
54714	CNGB3	HP:0030515	Moderately reduced visual acuity
54714	CNGB3	HP:0000639	Nystagmus
54714	CNGB3	HP:0000649	Abnormality of visual evoked potentials
54714	CNGB3	HP:0000613	Photophobia
54714	CNGB3	HP:0000610	Abnormal choroid morphology
54714	CNGB3	HP:0000608	Macular degeneration
54714	CNGB3	HP:0000603	Central scotoma
54714	CNGB3	HP:0030465	Undetectable light-adapted electroretinogram
54714	CNGB3	HP:0000662	Nyctalopia
54714	CNGB3	HP:0030620	Inner retinal layer loss on macular OCT
54714	CNGB3	HP:0030584	Color vision test abnormality
54714	CNGB3	HP:0011516	Achromatopsia
54714	CNGB3	HP:0030825	Absent foveal reflex
54714	CNGB3	HP:0008002	Abnormality of macular pigmentation
54714	CNGB3	HP:0008059	Aplasia/Hypoplasia of the macula
54714	CNGB3	HP:0007722	Retinal pigment epithelial atrophy
54714	CNGB3	HP:0007703	Abnormality of retinal pigmentation
54714	CNGB3	HP:0007704	Paroxysmal involuntary eye movements
54714	CNGB3	HP:0025549	Eccentric visual fixation
54714	CNGB3	HP:0007750	Hypoplasia of the fovea
54714	CNGB3	HP:0007695	Abnormal pupillary light reflex
54714	CNGB3	HP:0007843	Attenuation of retinal blood vessels
54714	CNGB3	HP:0007814	Retinal pigment epithelial mottling
54714	CNGB3	HP:0007803	Monochromacy
54714	CNGB3	HP:0007811	Horizontal pendular nystagmus
54714	CNGB3	HP:0011003	High myopia
54714	CNGB3	HP:0030329	Retinal thinning
54714	CNGB3	HP:0000493	Abnormal foveal morphology
54714	CNGB3	HP:0000518	Cataract
54714	CNGB3	HP:0000512	Abnormal electroretinogram
54714	CNGB3	HP:0000505	Visual impairment
54714	CNGB3	HP:0000540	Hypermetropia
54714	CNGB3	HP:0000539	Abnormality of refraction
54714	CNGB3	HP:0000551	Color vision defect
54714	CNGB3	HP:0000545	Myopia
54716	SLC6A20	HP:0001249	Intellectual disability
54716	SLC6A20	HP:0008672	Calcium oxalate nephrolithiasis
54716	SLC6A20	HP:0000007	Autosomal recessive inheritance
54716	SLC6A20	HP:0000006	Autosomal dominant inheritance
54716	SLC6A20	HP:0002154	Hyperglycinemia
54716	SLC6A20	HP:0008358	Hyperprolinemia
54716	SLC6A20	HP:0003080	Hydroxyprolinuria
54716	SLC6A20	HP:0003108	Hyperglycinuria
54716	SLC6A20	HP:0003137	Prolinuria
54716	SLC6A20	HP:0003260	Hydroxyprolinemia
54716	SLC6A20	HP:0000478	Abnormality of the eye
54756	IL17RD	HP:0001288	Gait disturbance
54756	IL17RD	HP:0001250	Seizure
54756	IL17RD	HP:0001252	Hypotonia
54756	IL17RD	HP:0001251	Ataxia
54756	IL17RD	HP:0001260	Dysarthria
54756	IL17RD	HP:0008734	Decreased testicular size
54756	IL17RD	HP:0008736	Hypoplasia of penis
54756	IL17RD	HP:0000044	Hypogonadotropic hypogonadism
54756	IL17RD	HP:0000054	Micropenis
54756	IL17RD	HP:0000028	Cryptorchidism
54756	IL17RD	HP:0001324	Muscle weakness
54756	IL17RD	HP:0000008	Abnormal morphology of female internal genitalia
54756	IL17RD	HP:0000007	Autosomal recessive inheritance
54756	IL17RD	HP:0001335	Bimanual synkinesia
54756	IL17RD	HP:0001337	Tremor
54756	IL17RD	HP:0000006	Autosomal dominant inheritance
54756	IL17RD	HP:0002652	Skeletal dysplasia
54756	IL17RD	HP:0000164	Abnormality of the dentition
54756	IL17RD	HP:0000175	Cleft palate
54756	IL17RD	HP:0000144	Decreased fertility
54756	IL17RD	HP:0000135	Hypogonadism
54756	IL17RD	HP:0002757	Recurrent fractures
54756	IL17RD	HP:0000104	Renal agenesis
54756	IL17RD	HP:0002750	Delayed skeletal maturation
54756	IL17RD	HP:0008197	Absence of pubertal development
54756	IL17RD	HP:0010550	Paraplegia
54756	IL17RD	HP:0009804	Tooth agenesis
54756	IL17RD	HP:0100639	Erectile dysfunction
54756	IL17RD	HP:0000639	Nystagmus
54756	IL17RD	HP:0030680	Abnormality of cardiovascular system morphology
54756	IL17RD	HP:0004349	Reduced bone mineral density
54756	IL17RD	HP:0000771	Gynecomastia
54756	IL17RD	HP:0000786	Primary amenorrhea
54756	IL17RD	HP:0004409	Hyposmia
54756	IL17RD	HP:0003187	Breast hypoplasia
54756	IL17RD	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
54756	IL17RD	HP:0000830	Anterior hypopituitarism
54756	IL17RD	HP:0000823	Delayed puberty
54756	IL17RD	HP:0000939	Osteoporosis
54756	IL17RD	HP:0000938	Osteopenia
54756	IL17RD	HP:0008064	Ichthyosis
54756	IL17RD	HP:0030016	Dyspareunia
54756	IL17RD	HP:0001513	Obesity
54756	IL17RD	HP:0001608	Abnormality of the voice
54756	IL17RD	HP:0000365	Hearing impairment
54756	IL17RD	HP:0000407	Sensorineural hearing impairment
54756	IL17RD	HP:0000458	Anosmia
54756	IL17RD	HP:0001763	Pes planus
54756	IL17RD	HP:0001761	Pes cavus
54756	IL17RD	HP:0000508	Ptosis
54756	IL17RD	HP:0000505	Visual impairment
54756	IL17RD	HP:0000551	Color vision defect
54757	FAM20A	HP:0000083	Renal insufficiency
54757	FAM20A	HP:0000007	Autosomal recessive inheritance
54757	FAM20A	HP:0000169	Gingival fibromatosis
54757	FAM20A	HP:0006302	Dagger-shaped pulp calcifications
54757	FAM20A	HP:0006286	Yellow-brown discoloration of the teeth
54757	FAM20A	HP:0000121	Nephrocalcinosis
54757	FAM20A	HP:0000112	Nephropathy
54757	FAM20A	HP:0000103	Polyuria
54757	FAM20A	HP:0100530	Abnormal calcium-phosphate regulating hormone level
54757	FAM20A	HP:0004727	Impaired renal concentrating ability
54757	FAM20A	HP:0000696	Delayed eruption of permanent teeth
54757	FAM20A	HP:0000682	Abnormal dental enamel morphology
54757	FAM20A	HP:0000684	Delayed eruption of teeth
54757	FAM20A	HP:0000805	Enuresis
54757	FAM20A	HP:0000705	Amelogenesis imperfecta
54757	FAM20A	HP:0003127	Hypocalciuria
54757	FAM20A	HP:0001548	Overgrowth
54757	FAM20A	HP:0000212	Gingival overgrowth
54757	FAM20A	HP:0011073	Abnormality of dental color
54757	FAM20A	HP:0012365	Hypophosphaturia
54757	FAM20A	HP:0031428	Increased circulating osteocalcin level
54765	TRIM44	HP:0000006	Autosomal dominant inheritance
54765	TRIM44	HP:0000639	Nystagmus
54765	TRIM44	HP:0000659	Peters anomaly
54765	TRIM44	HP:0008059	Aplasia/Hypoplasia of the macula
54765	TRIM44	HP:0000518	Cataract
54765	TRIM44	HP:0000529	Progressive visual loss
54765	TRIM44	HP:0000526	Aniridia
54765	TRIM44	HP:0000501	Glaucoma
54765	TRIM44	HP:0000572	Visual loss
54766	BTG4	HP:0025132	Abnormal circulating estrogen level
54766	BTG4	HP:0000007	Autosomal recessive inheritance
54766	BTG4	HP:0000140	Abnormality of the menstrual cycle
54766	BTG4	HP:0008222	Female infertility
54766	BTG4	HP:0033336	Zygotic cleavage failure
54768	HYDIN	HP:0025177	Peribronchovascular interstitial thickening
54768	HYDIN	HP:0033542	Bronchial wall thickening
54768	HYDIN	HP:0002566	Intestinal malrotation
54768	HYDIN	HP:0001217	Clubbing
54768	HYDIN	HP:0000007	Autosomal recessive inheritance
54768	HYDIN	HP:0002643	Neonatal respiratory distress
54768	HYDIN	HP:0000119	Abnormality of the genitourinary system
54768	HYDIN	HP:0032543	Lithoptysis
54768	HYDIN	HP:0031245	Productive cough
54768	HYDIN	HP:0002011	Morphological central nervous system abnormality
54768	HYDIN	HP:0100582	Nasal polyposis
54768	HYDIN	HP:0002119	Ventriculomegaly
54768	HYDIN	HP:0002110	Bronchiectasis
54768	HYDIN	HP:0008222	Female infertility
54768	HYDIN	HP:0003593	Infantile onset
54768	HYDIN	HP:0002257	Chronic rhinitis
54768	HYDIN	HP:0002205	Recurrent respiratory infections
54768	HYDIN	HP:0100750	Atelectasis
54768	HYDIN	HP:0032016	Abnormal sputum
54768	HYDIN	HP:0011947	Respiratory tract infection
54768	HYDIN	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
54768	HYDIN	HP:0010772	Anomalous pulmonary venous return
54768	HYDIN	HP:0003623	Neonatal onset
54768	HYDIN	HP:0003621	Juvenile onset
54768	HYDIN	HP:0030680	Abnormality of cardiovascular system morphology
54768	HYDIN	HP:0000750	Delayed speech and language development
54768	HYDIN	HP:0011463	Childhood onset
54768	HYDIN	HP:0000924	Abnormality of the skeletal system
54768	HYDIN	HP:0004469	Chronic bronchitis
54768	HYDIN	HP:0011539	Atrial situs ambiguous
54768	HYDIN	HP:0011535	Abnormal atrial arrangement
54768	HYDIN	HP:0030828	Wheezing
54768	HYDIN	HP:0003251	Male infertility
54768	HYDIN	HP:0011617	Pulmonary situs ambiguus
54768	HYDIN	HP:0025576	Abnormal inferior vena cava morphology
54768	HYDIN	HP:0012265	Ciliary dyskinesia
54768	HYDIN	HP:0000238	Hydrocephalus
54768	HYDIN	HP:0012206	Abnormal sperm motility
54768	HYDIN	HP:0012207	Reduced sperm motility
54768	HYDIN	HP:0002878	Respiratory failure
54768	HYDIN	HP:0000389	Chronic otitis media
54768	HYDIN	HP:0006532	Recurrent pneumonia
54768	HYDIN	HP:0006536	Airway obstruction
54768	HYDIN	HP:0001696	Situs inversus totalis
54768	HYDIN	HP:0000365	Hearing impairment
54768	HYDIN	HP:0001669	Transposition of the great arteries
54768	HYDIN	HP:0031456	Ectopic pregnancy
54768	HYDIN	HP:0001627	Abnormal heart morphology
54768	HYDIN	HP:0005301	Persistent left superior vena cava
54768	HYDIN	HP:0000403	Recurrent otitis media
54768	HYDIN	HP:0000405	Conductive hearing impairment
54768	HYDIN	HP:0001719	Double outlet right ventricle
54768	HYDIN	HP:0011109	Chronic sinusitis
54768	HYDIN	HP:0011108	Recurrent sinusitis
54768	HYDIN	HP:0001746	Asplenia
54768	HYDIN	HP:0001748	Polysplenia
54768	HYDIN	HP:0001742	Nasal congestion
54768	HYDIN	HP:0005425	Recurrent sinopulmonary infections
54768	HYDIN	HP:0011274	Recurrent mycobacterial infections
54768	HYDIN	HP:0000510	Rod-cone dystrophy
54790	TET2	HP:0025142	Constitutional symptom
54790	TET2	HP:0002488	Acute leukemia
54790	TET2	HP:0001297	Stroke
54790	TET2	HP:0001279	Syncope
54790	TET2	HP:0001231	Abnormal fingernail morphology
54790	TET2	HP:0100845	Anaphylactic shock
54790	TET2	HP:0031035	Chronic infection
54790	TET2	HP:0010972	Anemia of inadequate production
54790	TET2	HP:0031020	Bone marrow hypercellularity
54790	TET2	HP:0002659	Increased susceptibility to fractures
54790	TET2	HP:0000007	Autosomal recessive inheritance
54790	TET2	HP:0002665	Lymphoma
54790	TET2	HP:0002639	Budd-Chiari syndrome
54790	TET2	HP:0002653	Bone pain
54790	TET2	HP:0002615	Hypotension
54790	TET2	HP:0012150	Single lineage myelodysplasia
54790	TET2	HP:0012136	Dysplastic granulopoesis
54790	TET2	HP:0012137	Abnormal number of granulocyte precursors
54790	TET2	HP:0012138	Granulocytic hyperplasia
54790	TET2	HP:0012143	Abnormal megakaryocyte morphology
54790	TET2	HP:0012132	Erythroid hyperplasia
54790	TET2	HP:0012133	Erythroid hypoplasia
54790	TET2	HP:0025435	Increased circulating lactate dehydrogenase concentration
54790	TET2	HP:0002797	Osteolysis
54790	TET2	HP:0031284	Flushing
54790	TET2	HP:0001428	Somatic mutation
54790	TET2	HP:0002756	Pathologic fracture
54790	TET2	HP:0001433	Hepatosplenomegaly
54790	TET2	HP:0001410	Decreased liver function
54790	TET2	HP:0001409	Portal hypertension
54790	TET2	HP:0002716	Lymphadenopathy
54790	TET2	HP:0002729	Follicular hyperplasia
54790	TET2	HP:0002024	Malabsorption
54790	TET2	HP:0002018	Nausea
54790	TET2	HP:0002027	Abdominal pain
54790	TET2	HP:0003326	Myalgia
54790	TET2	HP:0002014	Diarrhea
54790	TET2	HP:0002086	Abnormality of the respiratory system
54790	TET2	HP:0002094	Dyspnea
54790	TET2	HP:0002093	Respiratory insufficiency
54790	TET2	HP:0002039	Anorexia
54790	TET2	HP:0003388	Easy fatigability
54790	TET2	HP:0100576	Amaurosis fugax
54790	TET2	HP:0002110	Bronchiectasis
54790	TET2	HP:0100494	Abnormal mast cell morphology
54790	TET2	HP:0011897	Neutrophilia
54790	TET2	HP:0011875	Abnormal platelet morphology
54790	TET2	HP:0003401	Paresthesia
54790	TET2	HP:0003593	Infantile onset
54790	TET2	HP:0002240	Hepatomegaly
54790	TET2	HP:0002239	Gastrointestinal hemorrhage
54790	TET2	HP:0002205	Recurrent respiratory infections
54790	TET2	HP:0002204	Pulmonary embolism
54790	TET2	HP:0200143	Megaloblastic erythroid hyperplasia
54790	TET2	HP:0100749	Chest pain
54790	TET2	HP:0011974	Myelofibrosis
54790	TET2	HP:0020072	Persistent EBV viremia
54790	TET2	HP:0004828	Refractory anemia with ringed sideroblasts
54790	TET2	HP:0004808	Acute myeloid leukemia
54790	TET2	HP:0001028	Hemangioma
54790	TET2	HP:0001025	Urticaria
54790	TET2	HP:0002321	Vertigo
54790	TET2	HP:0002315	Headache
54790	TET2	HP:0002326	Transient ischemic attack
54790	TET2	HP:0100659	Abnormal cerebral vascular morphology
54790	TET2	HP:0032155	Abdominal cramps
54790	TET2	HP:0004936	Venous thrombosis
54790	TET2	HP:0005528	Bone marrow hypocellularity
54790	TET2	HP:0005513	Increased megakaryocyte count
54790	TET2	HP:0031807	Increased basophil count
54790	TET2	HP:0005550	Chronic lymphatic leukemia
54790	TET2	HP:0005547	Myeloproliferative disorder
54790	TET2	HP:0005561	Abnormality of bone marrow cell morphology
54790	TET2	HP:4000057	Decreased FasL-mediated apoptosis
54790	TET2	HP:0001971	Hypersplenism
54790	TET2	HP:0001977	Abnormal thrombosis
54790	TET2	HP:0001978	Extramedullary hematopoiesis
54790	TET2	HP:0001972	Macrocytic anemia
54790	TET2	HP:0001974	Leukocytosis
54790	TET2	HP:0001945	Fever
54790	TET2	HP:0001931	Hypochromic anemia
54790	TET2	HP:0001909	Leukemia
54790	TET2	HP:0001903	Anemia
54790	TET2	HP:0001913	Granulocytopenia
54790	TET2	HP:0011343	Moderate global developmental delay
54790	TET2	HP:0004326	Cachexia
54790	TET2	HP:0004398	Peptic ulcer
54790	TET2	HP:0031901	Elevated total serum tryptase
54790	TET2	HP:0004377	Hematological neoplasm
54790	TET2	HP:0003010	Prolonged bleeding time
54790	TET2	HP:0011447	Hyposegmentation of neutrophil nuclei
54790	TET2	HP:0004447	Poikilocytosis
54790	TET2	HP:0004420	Arterial thrombosis
54790	TET2	HP:0004417	Intermittent claudication
54790	TET2	HP:0003155	Elevated circulating alkaline phosphatase concentration
54790	TET2	HP:0000822	Hypertension
54790	TET2	HP:0030872	Abnormal cardiac ventricular function
54790	TET2	HP:0000980	Pallor
54790	TET2	HP:0000979	Purpura
54790	TET2	HP:0000978	Bruising susceptibility
54790	TET2	HP:0000989	Pruritus
54790	TET2	HP:0000967	Petechiae
54790	TET2	HP:0000939	Osteoporosis
54790	TET2	HP:0008066	Abnormal blistering of the skin
54790	TET2	HP:0040186	Maculopapular exanthema
54790	TET2	HP:0031408	Increased proportion of CD25+ mast cells
54790	TET2	HP:0030057	Autoimmune antibody positivity
54790	TET2	HP:0002829	Arthralgia
54790	TET2	HP:0000225	Gingival bleeding
54790	TET2	HP:0001541	Ascites
54790	TET2	HP:0002863	Myelodysplasia
54790	TET2	HP:0031364	Ecchymosis
54790	TET2	HP:0012378	Fatigue
54790	TET2	HP:0011034	Amyloidosis
54790	TET2	HP:0000360	Tinnitus
54790	TET2	HP:0012324	Myeloid leukemia
54790	TET2	HP:0012325	Chronic myelomonocytic leukemia
54790	TET2	HP:0001681	Angina pectoris
54790	TET2	HP:0001649	Tachycardia
54790	TET2	HP:0001658	Myocardial infarction
54790	TET2	HP:0030157	Flank pain
54790	TET2	HP:0001635	Congestive heart failure
54790	TET2	HP:0011134	Low-grade fever
54790	TET2	HP:0011121	Abnormality of skin morphology
54790	TET2	HP:0030242	Portal vein thrombosis
54790	TET2	HP:0001744	Splenomegaly
54790	TET2	HP:0000421	Epistaxis
54790	TET2	HP:0006775	Multiple myeloma
54790	TET2	HP:0001824	Weight loss
54790	TET2	HP:0001892	Abnormal bleeding
54790	TET2	HP:0001894	Thrombocytosis
54790	TET2	HP:0030388	Decreased proportion of class-switched memory B cells
54790	TET2	HP:0001895	Normochromic anemia
54790	TET2	HP:0001897	Normocytic anemia
54790	TET2	HP:0001872	Abnormality of thrombocytes
54790	TET2	HP:0001871	Abnormality of blood and blood-forming tissues
54790	TET2	HP:0001880	Eosinophilia
54790	TET2	HP:0001873	Thrombocytopenia
54790	TET2	HP:0001876	Pancytopenia
54790	TET2	HP:0001875	Neutropenia
54795	TRPM4	HP:0001279	Syncope
54795	TRPM4	HP:0031190	Superficial dermal perivascular inflammatory infiltrate
54795	TRPM4	HP:0000006	Autosomal dominant inheritance
54795	TRPM4	HP:0025474	Erythematous plaque
54795	TRPM4	HP:0002027	Abdominal pain
54795	TRPM4	HP:0002094	Dyspnea
54795	TRPM4	HP:0011715	Trifascicular block
54795	TRPM4	HP:0011711	Left anterior fascicular block
54795	TRPM4	HP:0011712	Right bundle branch block
54795	TRPM4	HP:0011710	Bundle branch block
54795	TRPM4	HP:0011704	Sick sinus syndrome
54795	TRPM4	HP:0011705	First degree atrioventricular block
54795	TRPM4	HP:0004755	Supraventricular tachycardia
54795	TRPM4	HP:0004751	Paroxysmal ventricular tachycardia
54795	TRPM4	HP:0001036	Parakeratosis
54795	TRPM4	HP:0002321	Vertigo
54795	TRPM4	HP:0200035	Skin plaque
54795	TRPM4	HP:0010783	Erythema
54795	TRPM4	HP:0004308	Ventricular arrhythmia
54795	TRPM4	HP:0012722	Heart block
54795	TRPM4	HP:0000989	Pruritus
54795	TRPM4	HP:0000982	Palmoplantar keratoderma
54795	TRPM4	HP:0011675	Arrhythmia
54795	TRPM4	HP:0012251	ST segment elevation
54795	TRPM4	HP:0005165	Shortened PR interval
54795	TRPM4	HP:0001695	Cardiac arrest
54795	TRPM4	HP:0001678	Atrioventricular block
54795	TRPM4	HP:0001649	Tachycardia
54795	TRPM4	HP:0001663	Ventricular fibrillation
54795	TRPM4	HP:0001662	Bradycardia
54795	TRPM4	HP:0001657	Prolonged QT interval
54795	TRPM4	HP:0001635	Congestive heart failure
54796	BNC2	HP:0003774	Stage 5 chronic kidney disease
54796	BNC2	HP:0010957	Congenital posterior urethral valve
54796	BNC2	HP:0010945	Fetal pyelectasis
54796	BNC2	HP:0001254	Lethargy
54796	BNC2	HP:0008718	Unilateral renal dysplasia
54796	BNC2	HP:0008661	Urethral stenosis
54796	BNC2	HP:0000083	Renal insufficiency
54796	BNC2	HP:0000076	Vesicoureteral reflux
54796	BNC2	HP:0000020	Urinary incontinence
54796	BNC2	HP:0000016	Urinary retention
54796	BNC2	HP:0008897	Postnatal growth retardation
54796	BNC2	HP:0000010	Recurrent urinary tract infections
54796	BNC2	HP:0000006	Autosomal dominant inheritance
54796	BNC2	HP:0000126	Hydronephrosis
54796	BNC2	HP:0100515	Pollakisuria
54796	BNC2	HP:0100518	Dysuria
54796	BNC2	HP:0010677	Enuresis nocturna
54796	BNC2	HP:0012622	Chronic kidney disease
54796	BNC2	HP:0000822	Hypertension
54796	BNC2	HP:0000278	Retrognathia
54796	BNC2	HP:0005105	Abnormal nasal morphology
54796	BNC2	HP:0001562	Oligohydramnios
54796	BNC2	HP:0012330	Pyelonephritis
54796	BNC2	HP:0000316	Hypertelorism
54800	KLHL24	HP:0007447	Diffuse palmoplantar hyperkeratosis
54800	KLHL24	HP:0000006	Autosomal dominant inheritance
54800	KLHL24	HP:0003577	Congenital onset
54800	KLHL24	HP:0002231	Sparse body hair
54800	KLHL24	HP:0008401	Onychogryposis of toenails
54800	KLHL24	HP:0002293	Alopecia of scalp
54800	KLHL24	HP:0001010	Hypopigmentation of the skin
54800	KLHL24	HP:0004334	Dermal atrophy
54800	KLHL24	HP:0008066	Abnormal blistering of the skin
54800	KLHL24	HP:0001596	Alopecia
54800	KLHL24	HP:0001810	Dystrophic toenail
54802	TRIT1	HP:0001290	Generalized hypotonia
54802	TRIT1	HP:0001249	Intellectual disability
54802	TRIT1	HP:0001263	Global developmental delay
54802	TRIT1	HP:0001257	Spasticity
54802	TRIT1	HP:0001332	Dystonia
54802	TRIT1	HP:0001344	Absent speech
54802	TRIT1	HP:0000007	Autosomal recessive inheritance
54802	TRIT1	HP:0002059	Cerebral atrophy
54802	TRIT1	HP:0002123	Generalized myoclonic seizure
54802	TRIT1	HP:0011923	Decreased activity of mitochondrial complex I
54802	TRIT1	HP:0003593	Infantile onset
54802	TRIT1	HP:0200134	Epileptic encephalopathy
54802	TRIT1	HP:0008347	Decreased activity of mitochondrial complex IV
54802	TRIT1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
54802	TRIT1	HP:0002353	EEG abnormality
54802	TRIT1	HP:0031936	Delayed ability to walk
54802	TRIT1	HP:0000750	Delayed speech and language development
54802	TRIT1	HP:0007766	Optic disc hypoplasia
54802	TRIT1	HP:0000252	Microcephaly
54802	TRIT1	HP:0001508	Failure to thrive
54802	TRIT1	HP:0000565	Esotropia
54802	TRIT1	HP:0000545	Myopia
54805	CNNM2	HP:0100954	Open operculum
54805	CNNM2	HP:0001250	Seizure
54805	CNNM2	HP:0001249	Intellectual disability
54805	CNNM2	HP:0001263	Global developmental delay
54805	CNNM2	HP:0001324	Muscle weakness
54805	CNNM2	HP:0001344	Absent speech
54805	CNNM2	HP:0000007	Autosomal recessive inheritance
54805	CNNM2	HP:0000006	Autosomal dominant inheritance
54805	CNNM2	HP:0033759	Impaired renal tubular reabsorption of magnesium
54805	CNNM2	HP:0003593	Infantile onset
54805	CNNM2	HP:0002321	Vertigo
54805	CNNM2	HP:0002315	Headache
54805	CNNM2	HP:0003621	Juvenile onset
54805	CNNM2	HP:0000750	Delayed speech and language development
54805	CNNM2	HP:0011463	Childhood onset
54805	CNNM2	HP:0000252	Microcephaly
54805	CNNM2	HP:0025501	Class III obesity
54805	CNNM2	HP:0002917	Hypomagnesemia
54805	CNNM2	HP:0025708	Early young adult onset
54806	AHI1	HP:0001161	Hand polydactyly
54806	AHI1	HP:0100951	Enlarged fossa interpeduncularis
54806	AHI1	HP:0003774	Stage 5 chronic kidney disease
54806	AHI1	HP:0002419	Molar tooth sign on MRI
54806	AHI1	HP:0001274	Agenesis of corpus callosum
54806	AHI1	HP:0001270	Motor delay
54806	AHI1	HP:0001288	Gait disturbance
54806	AHI1	HP:0001250	Seizure
54806	AHI1	HP:0001252	Hypotonia
54806	AHI1	HP:0001251	Ataxia
54806	AHI1	HP:0001249	Intellectual disability
54806	AHI1	HP:0001263	Global developmental delay
54806	AHI1	HP:0008736	Hypoplasia of penis
54806	AHI1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
54806	AHI1	HP:0002553	Highly arched eyebrow
54806	AHI1	HP:0000090	Nephronophthisis
54806	AHI1	HP:0001347	Hyperreflexia
54806	AHI1	HP:0000035	Abnormal testis morphology
54806	AHI1	HP:0008872	Feeding difficulties in infancy
54806	AHI1	HP:0033725	Thin corpus callosum
54806	AHI1	HP:0000007	Autosomal recessive inheritance
54806	AHI1	HP:0001337	Tremor
54806	AHI1	HP:0001320	Cerebellar vermis hypoplasia
54806	AHI1	HP:0002650	Scoliosis
54806	AHI1	HP:0000194	Open mouth
54806	AHI1	HP:0000175	Cleft palate
54806	AHI1	HP:0000135	Hypogonadism
54806	AHI1	HP:0007675	Progressive night blindness
54806	AHI1	HP:0002793	Abnormal pattern of respiration
54806	AHI1	HP:0002790	Neonatal breathing dysregulation
54806	AHI1	HP:0003312	Abnormal form of the vertebral bodies
54806	AHI1	HP:0005978	Type II diabetes mellitus
54806	AHI1	HP:0002084	Encephalocele
54806	AHI1	HP:0003468	Abnormal vertebral morphology
54806	AHI1	HP:0002126	Polymicrogyria
54806	AHI1	HP:0002104	Apnea
54806	AHI1	HP:0011933	Elongated superior cerebellar peduncle
54806	AHI1	HP:0002269	Abnormality of neuronal migration
54806	AHI1	HP:0002251	Aganglionic megacolon
54806	AHI1	HP:0011968	Feeding difficulties
54806	AHI1	HP:0006821	Frontal polymicrogyria
54806	AHI1	HP:0000639	Nystagmus
54806	AHI1	HP:0000648	Optic atrophy
54806	AHI1	HP:0000618	Blindness
54806	AHI1	HP:0000613	Photophobia
54806	AHI1	HP:0000612	Iris coloboma
54806	AHI1	HP:0000602	Ophthalmoplegia
54806	AHI1	HP:0000657	Oculomotor apraxia
54806	AHI1	HP:0006956	Lateral ventricle dilatation
54806	AHI1	HP:0030680	Abnormality of cardiovascular system morphology
54806	AHI1	HP:0031936	Delayed ability to walk
54806	AHI1	HP:0004422	Biparietal narrowing
54806	AHI1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
54806	AHI1	HP:0000842	Hyperinsulinemia
54806	AHI1	HP:0000987	Atypical scarring of skin
54806	AHI1	HP:0008046	Abnormal retinal vascular morphology
54806	AHI1	HP:0007703	Abnormality of retinal pigmentation
54806	AHI1	HP:0000286	Epicanthus
54806	AHI1	HP:0000276	Long face
54806	AHI1	HP:0000238	Hydrocephalus
54806	AHI1	HP:0002876	Episodic tachypnea
54806	AHI1	HP:0002871	Central apnea
54806	AHI1	HP:0000202	Orofacial cleft
54806	AHI1	HP:0001513	Obesity
54806	AHI1	HP:0001696	Situs inversus totalis
54806	AHI1	HP:0000369	Low-set ears
54806	AHI1	HP:0000368	Low-set, posteriorly rotated ears
54806	AHI1	HP:0001651	Dextrocardia
54806	AHI1	HP:0001631	Atrial septal defect
54806	AHI1	HP:0000407	Sensorineural hearing impairment
54806	AHI1	HP:0000405	Conductive hearing impairment
54806	AHI1	HP:0000486	Strabismus
54806	AHI1	HP:0000480	Retinal coloboma
54806	AHI1	HP:0000463	Anteverted nares
54806	AHI1	HP:0000431	Wide nasal bridge
54806	AHI1	HP:0000426	Prominent nasal bridge
54806	AHI1	HP:0000518	Cataract
54806	AHI1	HP:0000512	Abnormal electroretinogram
54806	AHI1	HP:0001829	Foot polydactyly
54806	AHI1	HP:0000508	Ptosis
54806	AHI1	HP:0000505	Visual impairment
54806	AHI1	HP:0000501	Glaucoma
54806	AHI1	HP:0000580	Pigmentary retinopathy
54806	AHI1	HP:0000563	Keratoconus
54806	AHI1	HP:0000556	Retinal dystrophy
54806	AHI1	HP:0000572	Visual loss
54808	DYM	HP:0001169	Broad palm
54808	DYM	HP:0001156	Brachydactyly
54808	DYM	HP:0002465	Poor speech
54808	DYM	HP:0010864	Intellectual disability, severe
54808	DYM	HP:0001270	Motor delay
54808	DYM	HP:0001285	Spastic tetraparesis
54808	DYM	HP:0001256	Intellectual disability, mild
54808	DYM	HP:0001249	Intellectual disability
54808	DYM	HP:0002540	Inability to walk
54808	DYM	HP:0002515	Waddling gait
54808	DYM	HP:0001377	Limited elbow extension
54808	DYM	HP:0001376	Limitation of joint mobility
54808	DYM	HP:0002684	Thickened calvaria
54808	DYM	HP:0002681	Deformed sella turcica
54808	DYM	HP:0001347	Hyperreflexia
54808	DYM	HP:0002692	Hypoplastic facial bones
54808	DYM	HP:0008897	Postnatal growth retardation
54808	DYM	HP:0008829	Delayed femoral head ossification
54808	DYM	HP:0008835	Multicentric femoral head ossification
54808	DYM	HP:0008786	Iliac crest serration
54808	DYM	HP:0002656	Epiphyseal dysplasia
54808	DYM	HP:0000007	Autosomal recessive inheritance
54808	DYM	HP:0002652	Skeletal dysplasia
54808	DYM	HP:0002650	Scoliosis
54808	DYM	HP:0002651	Spondyloepimetaphyseal dysplasia
54808	DYM	HP:0008905	Rhizomelia
54808	DYM	HP:0001498	Carpal bone hypoplasia
54808	DYM	HP:0002788	Recurrent upper respiratory tract infections
54808	DYM	HP:0031233	Horizontal inferior border of scapula
54808	DYM	HP:0002747	Respiratory insufficiency due to muscle weakness
54808	DYM	HP:0003368	Abnormal femoral head morphology
54808	DYM	HP:0003311	Hypoplasia of the odontoid process
54808	DYM	HP:0003375	Narrow greater sciatic notch
54808	DYM	HP:0003467	Atlantoaxial instability
54808	DYM	HP:0010582	Irregular epiphyses
54808	DYM	HP:0003510	Severe short stature
54808	DYM	HP:0003521	Disproportionate short-trunk short stature
54808	DYM	HP:0003698	Difficulty standing
54808	DYM	HP:0003690	Limb muscle weakness
54808	DYM	HP:0002359	Frequent falls
54808	DYM	HP:0004997	Multicentric ossification of proximal humeral epiphyses
54808	DYM	HP:0002355	Difficulty walking
54808	DYM	HP:0004991	Rhizomelic arm shortening
54808	DYM	HP:0009803	Short phalanx of finger
54808	DYM	HP:0010743	Short metatarsal
54808	DYM	HP:0004209	Clinodactyly of the 5th finger
54808	DYM	HP:0004242	Broad carpal bones
54808	DYM	HP:0010049	Short metacarpal
54808	DYM	HP:0011344	Severe global developmental delay
54808	DYM	HP:0031987	Diminished ability to concentrate
54808	DYM	HP:0003066	Limited knee extension
54808	DYM	HP:0003028	Abnormality of the ankle
54808	DYM	HP:0003016	Metaphyseal widening
54808	DYM	HP:0003026	Short long bone
54808	DYM	HP:0003025	Metaphyseal irregularity
54808	DYM	HP:0000752	Hyperactivity
54808	DYM	HP:0000768	Pectus carinatum
54808	DYM	HP:0000750	Delayed speech and language development
54808	DYM	HP:0000914	Shield chest
54808	DYM	HP:0000911	Flat glenoid fossa
54808	DYM	HP:0000925	Abnormality of the vertebral column
54808	DYM	HP:0000926	Platyspondyly
54808	DYM	HP:0000920	Enlargement of the costochondral junction
54808	DYM	HP:0003183	Wide pubic symphysis
54808	DYM	HP:0003180	Flat acetabular roof
54808	DYM	HP:0000882	Hypoplastic scapulae
54808	DYM	HP:0000884	Prominent sternum
54808	DYM	HP:0000885	Broad ribs
54808	DYM	HP:0003090	Hypoplasia of the capital femoral epiphysis
54808	DYM	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
54808	DYM	HP:0004568	Beaking of vertebral bodies
54808	DYM	HP:0003274	Hypoplastic acetabulae
54808	DYM	HP:0003272	Abnormal hip bone morphology
54808	DYM	HP:0100255	Metaphyseal dysplasia
54808	DYM	HP:0010306	Short thorax
54808	DYM	HP:0000946	Hypoplastic ilia
54808	DYM	HP:0040163	Abnormal pelvis bone morphology
54808	DYM	HP:0000280	Coarse facial features
54808	DYM	HP:0000268	Dolichocephaly
54808	DYM	HP:0006450	Multicentric ossification of proximal femoral epiphyses
54808	DYM	HP:0006429	Broad femoral neck
54808	DYM	HP:0005106	Abnormality of the vertebral endplates
54808	DYM	HP:0002812	Coxa vara
54808	DYM	HP:0002808	Kyphosis
54808	DYM	HP:0000252	Microcephaly
54808	DYM	HP:0001552	Barrel-shaped chest
54808	DYM	HP:0002857	Genu valgum
54808	DYM	HP:0001538	Protuberant abdomen
54808	DYM	HP:0002866	Hypoplastic iliac wing
54808	DYM	HP:0001508	Failure to thrive
54808	DYM	HP:0012379	Abnormal circulating enzyme concentration or activity
54808	DYM	HP:0012385	Camptodactyly
54808	DYM	HP:0006589	Flaring of lower rib cage
54808	DYM	HP:0002938	Lumbar hyperlordosis
54808	DYM	HP:0002942	Thoracic kyphosis
54808	DYM	HP:0000365	Hearing impairment
54808	DYM	HP:0002982	Tibial bowing
54808	DYM	HP:0002980	Femoral bowing
54808	DYM	HP:0002970	Genu varum
54808	DYM	HP:0000303	Mandibular prognathia
54808	DYM	HP:0007957	Corneal opacity
54808	DYM	HP:0006633	Glenoid fossa hypoplasia
54808	DYM	HP:0000470	Short neck
54808	DYM	HP:0012428	Prominent calcaneus
54808	DYM	HP:0001769	Broad foot
54808	DYM	HP:0001763	Pes planus
54808	DYM	HP:0001762	Talipes equinovarus
54809	SAMD9	HP:0003761	Calcinosis
54809	SAMD9	HP:0100806	Sepsis
54809	SAMD9	HP:0001270	Motor delay
54809	SAMD9	HP:0001250	Seizure
54809	SAMD9	HP:0001263	Global developmental delay
54809	SAMD9	HP:0002571	Achalasia
54809	SAMD9	HP:0008734	Decreased testicular size
54809	SAMD9	HP:0000047	Hypospadias
54809	SAMD9	HP:0000049	Shawl scrotum
54809	SAMD9	HP:0000028	Cryptorchidism
54809	SAMD9	HP:0000010	Recurrent urinary tract infections
54809	SAMD9	HP:0000007	Autosomal recessive inheritance
54809	SAMD9	HP:0000006	Autosomal dominant inheritance
54809	SAMD9	HP:0002650	Scoliosis
54809	SAMD9	HP:0006270	Hypoplastic spleen
54809	SAMD9	HP:0002718	Recurrent bacterial infections
54809	SAMD9	HP:0002020	Gastroesophageal reflux
54809	SAMD9	HP:0002028	Chronic diarrhea
54809	SAMD9	HP:0100529	Abnormal blood phosphate concentration
54809	SAMD9	HP:0002043	Esophageal stricture
54809	SAMD9	HP:0002153	Hyperkalemia
54809	SAMD9	HP:0002170	Intracranial hemorrhage
54809	SAMD9	HP:0010557	Overlapping fingers
54809	SAMD9	HP:0010550	Paraplegia
54809	SAMD9	HP:0003593	Infantile onset
54809	SAMD9	HP:0011951	Aspiration pneumonia
54809	SAMD9	HP:0004808	Acute myeloid leukemia
54809	SAMD9	HP:0003623	Neonatal onset
54809	SAMD9	HP:0005528	Bone marrow hypocellularity
54809	SAMD9	HP:0005518	Increased mean corpuscular volume
54809	SAMD9	HP:0001943	Hypoglycemia
54809	SAMD9	HP:0001903	Anemia
54809	SAMD9	HP:0004325	Decreased body weight
54809	SAMD9	HP:0004322	Short stature
54809	SAMD9	HP:0011463	Childhood onset
54809	SAMD9	HP:0000835	Adrenal hypoplasia
54809	SAMD9	HP:0000846	Adrenal insufficiency
54809	SAMD9	HP:0000815	Hypergonadotropic hypogonadism
54809	SAMD9	HP:0000951	Abnormality of the skin
54809	SAMD9	HP:0000967	Petechiae
54809	SAMD9	HP:0000238	Hydrocephalus
54809	SAMD9	HP:0000230	Gingivitis
54809	SAMD9	HP:0002863	Myelodysplasia
54809	SAMD9	HP:0001511	Intrauterine growth retardation
54809	SAMD9	HP:0002902	Hyponatremia
54809	SAMD9	HP:0001643	Patent ductus arteriosus
54809	SAMD9	HP:0004059	Radial club hand
54809	SAMD9	HP:0030260	Microphallus
54809	SAMD9	HP:0001762	Talipes equinovarus
54809	SAMD9	HP:0001838	Rocker bottom foot
54809	SAMD9	HP:0000509	Conjunctivitis
54809	SAMD9	HP:0031689	Megakaryocyte dysplasia
54809	SAMD9	HP:0001888	Lymphopenia
54809	SAMD9	HP:0001882	Leukopenia
54809	SAMD9	HP:0001873	Thrombocytopenia
54809	SAMD9	HP:0001876	Pancytopenia
54809	SAMD9	HP:0001875	Neutropenia
54820	NDE1	HP:0001181	Adducted thumb
54820	NDE1	HP:0008610	Infantile sensorineural hearing impairment
54820	NDE1	HP:0010864	Intellectual disability, severe
54820	NDE1	HP:0009879	Simplified gyral pattern
54820	NDE1	HP:0002421	Poor head control
54820	NDE1	HP:0003700	Generalized amyotrophy
54820	NDE1	HP:0025258	Stiff neck
54820	NDE1	HP:0001276	Hypertonia
54820	NDE1	HP:0001272	Cerebellar atrophy
54820	NDE1	HP:0001274	Agenesis of corpus callosum
54820	NDE1	HP:0001287	Meningitis
54820	NDE1	HP:0001254	Lethargy
54820	NDE1	HP:0001250	Seizure
54820	NDE1	HP:0001249	Intellectual disability
54820	NDE1	HP:0001265	Hyporeflexia
54820	NDE1	HP:0001264	Spastic diplegia
54820	NDE1	HP:0001263	Global developmental delay
54820	NDE1	HP:0410279	Atrophic pituitary gland
54820	NDE1	HP:0010994	Abnormal corpus striatum morphology
54820	NDE1	HP:0002514	Cerebral calcification
54820	NDE1	HP:0002510	Spastic tetraplegia
54820	NDE1	HP:0003808	Abnormal muscle tone
54820	NDE1	HP:0002683	Abnormal calvaria morphology
54820	NDE1	HP:0001347	Hyperreflexia
54820	NDE1	HP:0008897	Postnatal growth retardation
54820	NDE1	HP:0001339	Lissencephaly
54820	NDE1	HP:0000007	Autosomal recessive inheritance
54820	NDE1	HP:0001302	Pachygyria
54820	NDE1	HP:0001321	Cerebellar hypoplasia
54820	NDE1	HP:0006270	Hypoplastic spleen
54820	NDE1	HP:0002015	Dysphagia
54820	NDE1	HP:0002098	Respiratory distress
54820	NDE1	HP:0002079	Hypoplasia of the corpus callosum
54820	NDE1	HP:0003487	Babinski sign
54820	NDE1	HP:0002123	Generalized myoclonic seizure
54820	NDE1	HP:0002120	Cerebral cortical atrophy
54820	NDE1	HP:0002119	Ventriculomegaly
54820	NDE1	HP:0002187	Intellectual disability, profound
54820	NDE1	HP:0002179	Opisthotonus
54820	NDE1	HP:0010541	Cutis gyrata of scalp
54820	NDE1	HP:0002269	Abnormality of neuronal migration
54820	NDE1	HP:0003577	Congenital onset
54820	NDE1	HP:0007023	Antenatal intracerebral hemorrhage
54820	NDE1	HP:0010653	Abnormality of the falx cerebri
54820	NDE1	HP:0010652	Abnormal dura mater morphology
54820	NDE1	HP:0011968	Feeding difficulties
54820	NDE1	HP:0002365	Hypoplasia of the brainstem
54820	NDE1	HP:0002324	Hydranencephaly
54820	NDE1	HP:0025099	Dysgenesis of the thalamus
54820	NDE1	HP:0025040	Thalamic edema
54820	NDE1	HP:0002305	Athetosis
54820	NDE1	HP:0006818	4-layered lissencephaly
54820	NDE1	HP:0006887	Intellectual disability, progressive
54820	NDE1	HP:0000618	Blindness
54820	NDE1	HP:0000609	Optic nerve hypoplasia
54820	NDE1	HP:0000601	Hypotelorism
54820	NDE1	HP:0011344	Severe global developmental delay
54820	NDE1	HP:0011328	Abnormality of fontanelles
54820	NDE1	HP:0001999	Abnormal facial shape
54820	NDE1	HP:0004322	Short stature
54820	NDE1	HP:0012736	Profound global developmental delay
54820	NDE1	HP:0000742	Self-mutilation
54820	NDE1	HP:0009145	Abnormal cerebral artery morphology
54820	NDE1	HP:0011451	Primary microcephaly
54820	NDE1	HP:0003202	Skeletal muscle atrophy
54820	NDE1	HP:0045028	Microlissencephaly
54820	NDE1	HP:0000268	Dolichocephaly
54820	NDE1	HP:0000269	Prominent occiput
54820	NDE1	HP:0002828	Multiple joint contractures
54820	NDE1	HP:0000252	Microcephaly
54820	NDE1	HP:0025517	Hypoplastic hippocampus
54820	NDE1	HP:0030048	Colpocephaly
54820	NDE1	HP:0001511	Intrauterine growth retardation
54820	NDE1	HP:0001510	Growth delay
54820	NDE1	HP:0000369	Low-set ears
54820	NDE1	HP:0000341	Narrow forehead
54820	NDE1	HP:0000340	Sloping forehead
54820	NDE1	HP:0000350	Small forehead
54820	NDE1	HP:0000316	Hypertelorism
54820	NDE1	HP:0001655	Patent foramen ovale
54820	NDE1	HP:0000308	Microretrognathia
54820	NDE1	HP:0001631	Atrial septal defect
54820	NDE1	HP:0006698	Dilatation of the ventricular cavity
54820	NDE1	HP:0000400	Macrotia
54820	NDE1	HP:0000479	Abnormal retinal morphology
54820	NDE1	HP:0000445	Wide nose
54820	NDE1	HP:0001762	Talipes equinovarus
54820	NDE1	HP:0000431	Wide nasal bridge
54820	NDE1	HP:0000426	Prominent nasal bridge
54820	NDE1	HP:3000062	Abnormal internal carotid artery morphology
54820	NDE1	HP:0000520	Proptosis
54820	NDE1	HP:0001838	Rocker bottom foot
54820	NDE1	HP:0000504	Abnormality of vision
54820	NDE1	HP:0000533	Chorioretinal atrophy
54822	TRPM7	HP:0001283	Bulbar palsy
54822	TRPM7	HP:0007354	Amyotrophic lateral sclerosis
54822	TRPM7	HP:0001324	Muscle weakness
54822	TRPM7	HP:0000006	Autosomal dominant inheritance
54822	TRPM7	HP:0001300	Parkinsonism
54822	TRPM7	HP:0003394	Muscle spasm
54822	TRPM7	HP:0002059	Cerebral atrophy
54822	TRPM7	HP:0003470	Paralysis
54822	TRPM7	HP:0003596	Middle age onset
54822	TRPM7	HP:0003584	Late onset
54822	TRPM7	HP:0002366	Abnormal lower motor neuron morphology
54822	TRPM7	HP:0000726	Dementia
54828	BCAS3	HP:0002493	Upper motor neuron dysfunction
54828	BCAS3	HP:0002445	Tetraplegia
54828	BCAS3	HP:0010864	Intellectual disability, severe
54828	BCAS3	HP:0001272	Cerebellar atrophy
54828	BCAS3	HP:0001250	Seizure
54828	BCAS3	HP:0001252	Hypotonia
54828	BCAS3	HP:0001263	Global developmental delay
54828	BCAS3	HP:0001257	Spasticity
54828	BCAS3	HP:0002540	Inability to walk
54828	BCAS3	HP:0001347	Hyperreflexia
54828	BCAS3	HP:0001332	Dystonia
54828	BCAS3	HP:0033725	Thin corpus callosum
54828	BCAS3	HP:0001344	Absent speech
54828	BCAS3	HP:0000007	Autosomal recessive inheritance
54828	BCAS3	HP:0000194	Open mouth
54828	BCAS3	HP:0002059	Cerebral atrophy
54828	BCAS3	HP:0002141	Gait imbalance
54828	BCAS3	HP:0002194	Delayed gross motor development
54828	BCAS3	HP:0003593	Infantile onset
54828	BCAS3	HP:0008366	Foot joint contracture
54828	BCAS3	HP:0100660	Dyskinesia
54828	BCAS3	HP:0000639	Nystagmus
54828	BCAS3	HP:0000692	Tooth malposition
54828	BCAS3	HP:0000687	Widely spaced teeth
54828	BCAS3	HP:0000664	Synophrys
54828	BCAS3	HP:0004322	Short stature
54828	BCAS3	HP:0011400	Abnormal CNS myelination
54828	BCAS3	HP:0000286	Epicanthus
54828	BCAS3	HP:0000276	Long face
54828	BCAS3	HP:0000252	Microcephaly
54828	BCAS3	HP:0000232	Everted lower lip vermilion
54828	BCAS3	HP:0001647	Bicuspid aortic valve
54828	BCAS3	HP:0000316	Hypertelorism
54828	BCAS3	HP:0000322	Short philtrum
54828	BCAS3	HP:0000486	Strabismus
54828	BCAS3	HP:0012471	Thick vermilion border
54828	BCAS3	HP:0000431	Wide nasal bridge
54828	BCAS3	HP:0000508	Ptosis
54828	BCAS3	HP:0000574	Thick eyebrow
54829	ASPN	HP:0001387	Joint stiffness
54829	ASPN	HP:0006233	Osteoarthritis of the distal interphalangeal joint
54829	ASPN	HP:0006226	Osteoarthritis of the first carpometacarpal joint
54829	ASPN	HP:0000006	Autosomal dominant inheritance
54829	ASPN	HP:0002758	Osteoarthritis
54829	ASPN	HP:0002829	Arthralgia
54832	VPS13C	HP:0002451	Limb dystonia
54832	VPS13C	HP:0007256	Abnormal pyramidal sign
54832	VPS13C	HP:0025269	Panic attack
54832	VPS13C	HP:0001268	Mental deterioration
54832	VPS13C	HP:0002578	Gastroparesis
54832	VPS13C	HP:0001257	Spasticity
54832	VPS13C	HP:0001347	Hyperreflexia
54832	VPS13C	HP:0001332	Dystonia
54832	VPS13C	HP:0000007	Autosomal recessive inheritance
54832	VPS13C	HP:0001337	Tremor
54832	VPS13C	HP:0001300	Parkinsonism
54832	VPS13C	HP:0002018	Nausea
54832	VPS13C	HP:0002019	Constipation
54832	VPS13C	HP:0040307	Male sexual dysfunction
54832	VPS13C	HP:0002014	Diarrhea
54832	VPS13C	HP:0100543	Cognitive impairment
54832	VPS13C	HP:0002067	Bradykinesia
54832	VPS13C	HP:0003394	Muscle spasm
54832	VPS13C	HP:0002063	Rigidity
54832	VPS13C	HP:0002141	Gait imbalance
54832	VPS13C	HP:0002120	Cerebral cortical atrophy
54832	VPS13C	HP:0002185	Neurofibrillary tangles
54832	VPS13C	HP:0002172	Postural instability
54832	VPS13C	HP:0100710	Impulsivity
54832	VPS13C	HP:0100785	Insomnia
54832	VPS13C	HP:0003676	Progressive
54832	VPS13C	HP:0002322	Resting tremor
54832	VPS13C	HP:0100660	Dyskinesia
54832	VPS13C	HP:0002304	Akinesia
54832	VPS13C	HP:0000651	Diplopia
54832	VPS13C	HP:0000738	Hallucinations
54832	VPS13C	HP:0000739	Anxiety
54832	VPS13C	HP:0000736	Short attention span
54832	VPS13C	HP:0000735	Impaired social interactions
54832	VPS13C	HP:0000741	Apathy
54832	VPS13C	HP:0000716	Depression
54832	VPS13C	HP:0000713	Agitation
54832	VPS13C	HP:0000727	Frontal lobe dementia
54832	VPS13C	HP:0000726	Dementia
54832	VPS13C	HP:0004409	Hyposmia
54832	VPS13C	HP:0100315	Lewy bodies
54832	VPS13C	HP:0030014	Female sexual dysfunction
54832	VPS13C	HP:0012332	Abnormal autonomic nervous system physiology
54832	VPS13C	HP:0012452	Restless legs
54832	VPS13C	HP:0000551	Color vision defect
54834	GDAP2	HP:0002497	Spastic ataxia
54834	GDAP2	HP:0001272	Cerebellar atrophy
54834	GDAP2	HP:0001268	Mental deterioration
54834	GDAP2	HP:0001288	Gait disturbance
54834	GDAP2	HP:0001260	Dysarthria
54834	GDAP2	HP:0001257	Spasticity
54834	GDAP2	HP:0007338	Hypermetric saccades
54834	GDAP2	HP:0001348	Brisk reflexes
54834	GDAP2	HP:0001347	Hyperreflexia
54834	GDAP2	HP:0000007	Autosomal recessive inheritance
54834	GDAP2	HP:0002015	Dysphagia
54834	GDAP2	HP:0002066	Gait ataxia
54834	GDAP2	HP:0002141	Gait imbalance
54834	GDAP2	HP:0002120	Cerebral cortical atrophy
54834	GDAP2	HP:0002171	Gliosis
54834	GDAP2	HP:0002359	Frequent falls
54834	GDAP2	HP:0003677	Slowly progressive
54834	GDAP2	HP:0006895	Lower limb hypertonia
54834	GDAP2	HP:0000640	Gaze-evoked nystagmus
54834	GDAP2	HP:0000741	Apathy
54834	GDAP2	HP:0000716	Depression
54834	GDAP2	HP:0000718	Aggressive behavior
54834	GDAP2	HP:0008003	Jerky ocular pursuit movements
54834	GDAP2	HP:0000473	Torticollis
54834	GDAP2	HP:0025710	Late young adult onset
54840	APTX	HP:0001272	Cerebellar atrophy
54840	APTX	HP:0001268	Mental deterioration
54840	APTX	HP:0001288	Gait disturbance
54840	APTX	HP:0001284	Areflexia
54840	APTX	HP:0001251	Ataxia
54840	APTX	HP:0001265	Hyporeflexia
54840	APTX	HP:0001260	Dysarthria
54840	APTX	HP:0002505	Loss of ambulation
54840	APTX	HP:0001332	Dystonia
54840	APTX	HP:0001324	Muscle weakness
54840	APTX	HP:0000007	Autosomal recessive inheritance
54840	APTX	HP:0001337	Tremor
54840	APTX	HP:0002650	Scoliosis
54840	APTX	HP:0100543	Cognitive impairment
54840	APTX	HP:0002066	Gait ataxia
54840	APTX	HP:0002078	Truncal ataxia
54840	APTX	HP:0002072	Chorea
54840	APTX	HP:0002070	Limb ataxia
54840	APTX	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
54840	APTX	HP:0003581	Adult onset
54840	APTX	HP:0003693	Distal amyotrophy
54840	APTX	HP:0009830	Peripheral neuropathy
54840	APTX	HP:0010747	Medial flaring of the eyebrow
54840	APTX	HP:0003621	Juvenile onset
54840	APTX	HP:0006886	Impaired distal vibration sensation
54840	APTX	HP:0000640	Gaze-evoked nystagmus
54840	APTX	HP:0000657	Oculomotor apraxia
54840	APTX	HP:0003073	Hypoalbuminemia
54840	APTX	HP:0000764	Peripheral axonal degeneration
54840	APTX	HP:0000726	Dementia
54840	APTX	HP:0000707	Abnormality of the nervous system
54840	APTX	HP:0011463	Childhood onset
54840	APTX	HP:0003124	Hypercholesterolemia
54840	APTX	HP:0040078	Axonal degeneration
54840	APTX	HP:0003236	Elevated circulating creatine kinase concentration
54840	APTX	HP:0033051	Impaired executive functioning
54840	APTX	HP:0002936	Distal sensory impairment
54840	APTX	HP:0001761	Pes cavus
54840	APTX	HP:0000590	Progressive external ophthalmoplegia
54840	APTX	HP:0000571	Hypometric saccades
54845	ESRP1	HP:0008555	Absent vestibular function
54845	ESRP1	HP:0000007	Autosomal recessive inheritance
54845	ESRP1	HP:0008527	Congenital sensorineural hearing impairment
54845	ESRP1	HP:0011380	Morphological abnormality of the semicircular canal
54862	CC2D1A	HP:0010864	Intellectual disability, severe
54862	CC2D1A	HP:0001263	Global developmental delay
54862	CC2D1A	HP:0002546	Incomprehensible speech
54862	CC2D1A	HP:0000007	Autosomal recessive inheritance
54862	CC2D1A	HP:0000752	Hyperactivity
54862	CC2D1A	HP:0000736	Short attention span
54862	CC2D1A	HP:0000750	Delayed speech and language development
54862	CC2D1A	HP:0011463	Childhood onset
54862	CC2D1A	HP:0000253	Progressive microcephaly
54862	CC2D1A	HP:0000338	Hypomimic face
54870	QRICH1	HP:0001195	Single umbilical artery
54870	QRICH1	HP:0001270	Motor delay
54870	QRICH1	HP:0001252	Hypotonia
54870	QRICH1	HP:0001249	Intellectual disability
54870	QRICH1	HP:0001265	Hyporeflexia
54870	QRICH1	HP:0000006	Autosomal dominant inheritance
54870	QRICH1	HP:0002650	Scoliosis
54870	QRICH1	HP:0000154	Wide mouth
54870	QRICH1	HP:0002750	Delayed skeletal maturation
54870	QRICH1	HP:0002080	Intention tremor
54870	QRICH1	HP:0008180	Mildly elevated creatine kinase
54870	QRICH1	HP:0003577	Congenital onset
54870	QRICH1	HP:0011968	Feeding difficulties
54870	QRICH1	HP:0002317	Unsteady gait
54870	QRICH1	HP:0004209	Clinodactyly of the 5th finger
54870	QRICH1	HP:0004322	Short stature
54870	QRICH1	HP:0003025	Metaphyseal irregularity
54870	QRICH1	HP:0000750	Delayed speech and language development
54870	QRICH1	HP:0000729	Autistic behavior
54870	QRICH1	HP:0000252	Microcephaly
54870	QRICH1	HP:0000219	Thin upper lip vermilion
54870	QRICH1	HP:0000218	High palate
54870	QRICH1	HP:0000232	Everted lower lip vermilion
54870	QRICH1	HP:0001511	Intrauterine growth retardation
54870	QRICH1	HP:0000378	Cupped ear
54870	QRICH1	HP:0000369	Low-set ears
54870	QRICH1	HP:0001669	Transposition of the great arteries
54870	QRICH1	HP:0000319	Smooth philtrum
54870	QRICH1	HP:0000316	Hypertelorism
54870	QRICH1	HP:0000400	Macrotia
54870	QRICH1	HP:0000455	Broad nasal tip
54870	QRICH1	HP:0000448	Prominent nose
54870	QRICH1	HP:0000445	Wide nose
54870	QRICH1	HP:0000414	Bulbous nose
54870	QRICH1	HP:0000508	Ptosis
54870	QRICH1	HP:0000582	Upslanted palpebral fissure
54872	PIGG	HP:0001177	Preaxial hand polydactyly
54872	PIGG	HP:0001171	Split hand
54872	PIGG	HP:0001187	Hyperextensibility of the finger joints
54872	PIGG	HP:0001166	Arachnodactyly
54872	PIGG	HP:0007258	Severe demyelination of the white matter
54872	PIGG	HP:0009890	High anterior hairline
54872	PIGG	HP:0010864	Intellectual disability, severe
54872	PIGG	HP:0008551	Microtia
54872	PIGG	HP:0001290	Generalized hypotonia
54872	PIGG	HP:0001272	Cerebellar atrophy
54872	PIGG	HP:0001274	Agenesis of corpus callosum
54872	PIGG	HP:0001250	Seizure
54872	PIGG	HP:0001252	Hypotonia
54872	PIGG	HP:0001251	Ataxia
54872	PIGG	HP:0001265	Hyporeflexia
54872	PIGG	HP:0001263	Global developmental delay
54872	PIGG	HP:0007385	Aplasia cutis congenita of scalp
54872	PIGG	HP:0007360	Aplasia/Hypoplasia of the cerebellum
54872	PIGG	HP:0002553	Highly arched eyebrow
54872	PIGG	HP:0000077	Abnormality of the kidney
54872	PIGG	HP:0000079	Abnormality of the urinary system
54872	PIGG	HP:0000078	Abnormality of the genital system
54872	PIGG	HP:0001388	Joint laxity
54872	PIGG	HP:0000047	Hypospadias
54872	PIGG	HP:0001362	Calvarial skull defect
54872	PIGG	HP:0000028	Cryptorchidism
54872	PIGG	HP:0008830	Hypoplastic pubic rami
54872	PIGG	HP:0001344	Absent speech
54872	PIGG	HP:0000007	Autosomal recessive inheritance
54872	PIGG	HP:0002650	Scoliosis
54872	PIGG	HP:0001321	Cerebellar hypoplasia
54872	PIGG	HP:0000159	Abnormal lip morphology
54872	PIGG	HP:0000175	Cleft palate
54872	PIGG	HP:0000153	Abnormality of the mouth
54872	PIGG	HP:0002750	Delayed skeletal maturation
54872	PIGG	HP:0002715	Abnormality of the immune system
54872	PIGG	HP:0002714	Downturned corners of mouth
54872	PIGG	HP:0003363	Abdominal situs inversus
54872	PIGG	HP:0002007	Frontal bossing
54872	PIGG	HP:0003312	Abnormal form of the vertebral bodies
54872	PIGG	HP:0002069	Bilateral tonic-clonic seizure
54872	PIGG	HP:0002066	Gait ataxia
54872	PIGG	HP:0003394	Muscle spasm
54872	PIGG	HP:0002079	Hypoplasia of the corpus callosum
54872	PIGG	HP:0002059	Cerebral atrophy
54872	PIGG	HP:0002144	Tethered cord
54872	PIGG	HP:0002141	Gait imbalance
54872	PIGG	HP:0003468	Abnormal vertebral morphology
54872	PIGG	HP:0002187	Intellectual disability, profound
54872	PIGG	HP:0002162	Low posterior hairline
54872	PIGG	HP:0010510	Hypermobility of toe joints
54872	PIGG	HP:0003593	Infantile onset
54872	PIGG	HP:0002205	Recurrent respiratory infections
54872	PIGG	HP:0100790	Hernia
54872	PIGG	HP:0011968	Feeding difficulties
54872	PIGG	HP:0001028	Hemangioma
54872	PIGG	HP:0002329	Drowsiness
54872	PIGG	HP:0009778	Short thumb
54872	PIGG	HP:0006829	Severe muscular hypotonia
54872	PIGG	HP:0000639	Nystagmus
54872	PIGG	HP:0000648	Optic atrophy
54872	PIGG	HP:0000647	Sclerocornea
54872	PIGG	HP:0000612	Iris coloboma
54872	PIGG	HP:0011344	Severe global developmental delay
54872	PIGG	HP:0000668	Hypodontia
54872	PIGG	HP:0001999	Abnormal facial shape
54872	PIGG	HP:0030680	Abnormality of cardiovascular system morphology
54872	PIGG	HP:0031936	Delayed ability to walk
54872	PIGG	HP:0100022	Abnormality of movement
54872	PIGG	HP:0000765	Abnormal thorax morphology
54872	PIGG	HP:0000750	Delayed speech and language development
54872	PIGG	HP:0000729	Autistic behavior
54872	PIGG	HP:0011461	Fetal onset
54872	PIGG	HP:0010109	Short hallux
54872	PIGG	HP:0000776	Congenital diaphragmatic hernia
54872	PIGG	HP:0000925	Abnormality of the vertebral column
54872	PIGG	HP:0000902	Rib fusion
54872	PIGG	HP:0003155	Elevated circulating alkaline phosphatase concentration
54872	PIGG	HP:0000960	Sacral dimple
54872	PIGG	HP:0000939	Osteoporosis
54872	PIGG	HP:0008081	Pes valgus
54872	PIGG	HP:0000286	Epicanthus
54872	PIGG	HP:0000288	Abnormality of the philtrum
54872	PIGG	HP:0000268	Dolichocephaly
54872	PIGG	HP:0002808	Kyphosis
54872	PIGG	HP:0000252	Microcephaly
54872	PIGG	HP:0000219	Thin upper lip vermilion
54872	PIGG	HP:0001558	Decreased fetal movement
54872	PIGG	HP:0000204	Cleft upper lip
54872	PIGG	HP:0001508	Failure to thrive
54872	PIGG	HP:0030047	Abnormal lateral ventricle morphology
54872	PIGG	HP:0001519	Disproportionate tall stature
54872	PIGG	HP:0001511	Intrauterine growth retardation
54872	PIGG	HP:0001510	Growth delay
54872	PIGG	HP:0000389	Chronic otitis media
54872	PIGG	HP:0005264	Abnormality of the gallbladder
54872	PIGG	HP:0000365	Hearing impairment
54872	PIGG	HP:0000368	Low-set, posteriorly rotated ears
54872	PIGG	HP:0001671	Abnormal cardiac septum morphology
54872	PIGG	HP:0000348	High forehead
54872	PIGG	HP:0000347	Micrognathia
54872	PIGG	HP:0000316	Hypertelorism
54872	PIGG	HP:0001654	Abnormal heart valve morphology
54872	PIGG	HP:0000322	Short philtrum
54872	PIGG	HP:0001631	Atrial septal defect
54872	PIGG	HP:0011193	EEG with focal spikes
54872	PIGG	HP:0006655	Rib segmentation abnormalities
54872	PIGG	HP:0005280	Depressed nasal bridge
54872	PIGG	HP:0000486	Strabismus
54872	PIGG	HP:0000485	Megalocornea
54872	PIGG	HP:0000494	Downslanted palpebral fissures
54872	PIGG	HP:0000488	Retinopathy
54872	PIGG	HP:0001763	Pes planus
54872	PIGG	HP:0000445	Wide nose
54872	PIGG	HP:0001760	Abnormal foot morphology
54872	PIGG	HP:0001762	Talipes equinovarus
54872	PIGG	HP:0000431	Wide nasal bridge
54872	PIGG	HP:0006703	Aplasia/Hypoplasia of the lungs
54872	PIGG	HP:0006709	Aplasia/Hypoplasia of the nipples
54872	PIGG	HP:0000520	Proptosis
54872	PIGG	HP:0000508	Ptosis
54872	PIGG	HP:0000540	Hypermetropia
54880	BCOR	HP:0001169	Broad palm
54880	BCOR	HP:0001188	Hand clenching
54880	BCOR	HP:0001153	Septate vagina
54880	BCOR	HP:0001159	Syndactyly
54880	BCOR	HP:0009943	Complete duplication of thumb phalanx
54880	BCOR	HP:0008572	External ear malformation
54880	BCOR	HP:0001290	Generalized hypotonia
54880	BCOR	HP:0100818	Long thorax
54880	BCOR	HP:0001270	Motor delay
54880	BCOR	HP:0001256	Intellectual disability, mild
54880	BCOR	HP:0001250	Seizure
54880	BCOR	HP:0001252	Hypotonia
54880	BCOR	HP:0001249	Intellectual disability
54880	BCOR	HP:0001264	Spastic diplegia
54880	BCOR	HP:0001263	Global developmental delay
54880	BCOR	HP:0002566	Intestinal malrotation
54880	BCOR	HP:0006101	Finger syndactyly
54880	BCOR	HP:0031035	Chronic infection
54880	BCOR	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
54880	BCOR	HP:0008678	Renal hypoplasia/aplasia
54880	BCOR	HP:0001212	Prominent fingertip pads
54880	BCOR	HP:0002553	Highly arched eyebrow
54880	BCOR	HP:0031020	Bone marrow hypercellularity
54880	BCOR	HP:0000089	Renal hypoplasia
54880	BCOR	HP:0000072	Hydroureter
54880	BCOR	HP:0001371	Flexion contracture
54880	BCOR	HP:0000047	Hypospadias
54880	BCOR	HP:0000028	Cryptorchidism
54880	BCOR	HP:0008872	Feeding difficulties in infancy
54880	BCOR	HP:0001324	Muscle weakness
54880	BCOR	HP:0001305	Dandy-Walker malformation
54880	BCOR	HP:0002653	Bone pain
54880	BCOR	HP:0002650	Scoliosis
54880	BCOR	HP:0000193	Bifid uvula
54880	BCOR	HP:0000164	Abnormality of the dentition
54880	BCOR	HP:0000176	Submucous cleft hard palate
54880	BCOR	HP:0000175	Cleft palate
54880	BCOR	HP:0000174	Abnormal palate morphology
54880	BCOR	HP:0006335	Persistence of primary teeth
54880	BCOR	HP:0006315	Solitary median maxillary central incisor
54880	BCOR	HP:0002705	High, narrow palate
54880	BCOR	HP:0025420	Diffuse alveolar hemorrhage
54880	BCOR	HP:0000126	Hydronephrosis
54880	BCOR	HP:0001423	X-linked dominant inheritance
54880	BCOR	HP:0002751	Kyphoscoliosis
54880	BCOR	HP:0001417	X-linked inheritance
54880	BCOR	HP:0031245	Productive cough
54880	BCOR	HP:0002716	Lymphadenopathy
54880	BCOR	HP:0002023	Anal atresia
54880	BCOR	HP:0002021	Pyloric stenosis
54880	BCOR	HP:0002035	Rectal prolapse
54880	BCOR	HP:0004691	2-3 toe syndactyly
54880	BCOR	HP:0002027	Abdominal pain
54880	BCOR	HP:0003307	Hyperlordosis
54880	BCOR	HP:0033189	Radiculomegaly
54880	BCOR	HP:0002089	Pulmonary hypoplasia
54880	BCOR	HP:0002079	Hypoplasia of the corpus callosum
54880	BCOR	HP:0030955	Alcoholism
54880	BCOR	HP:0002039	Anorexia
54880	BCOR	HP:0009466	Radial deviation of finger
54880	BCOR	HP:0009473	Joint contracture of the hand
54880	BCOR	HP:0011900	Hypofibrinogenemia
54880	BCOR	HP:0002167	Abnormality of speech or vocalization
54880	BCOR	HP:0100490	Camptodactyly of finger
54880	BCOR	HP:0002251	Aganglionic megacolon
54880	BCOR	HP:0100716	Self-injurious behavior
54880	BCOR	HP:0010722	Asymmetry of the ears
54880	BCOR	HP:0100758	Gangrene
54880	BCOR	HP:0020006	Ciliary body coloboma
54880	BCOR	HP:0001018	Abnormal palmar dermatoglyphics
54880	BCOR	HP:0002321	Vertigo
54880	BCOR	HP:0002313	Spastic paraparesis
54880	BCOR	HP:0200021	Down-sloping shoulders
54880	BCOR	HP:0100608	Metrorrhagia
54880	BCOR	HP:0001083	Ectopia lentis
54880	BCOR	HP:0009778	Short thumb
54880	BCOR	HP:0009755	Ankyloblepharon
54880	BCOR	HP:0004969	Peripheral pulmonary artery stenosis
54880	BCOR	HP:0004209	Clinodactyly of the 5th finger
54880	BCOR	HP:0005521	Disseminated intravascular coagulation
54880	BCOR	HP:0000639	Nystagmus
54880	BCOR	HP:0001974	Leukocytosis
54880	BCOR	HP:0000618	Blindness
54880	BCOR	HP:0000612	Iris coloboma
54880	BCOR	HP:0001945	Fever
54880	BCOR	HP:0001903	Anemia
54880	BCOR	HP:0010055	Broad hallux
54880	BCOR	HP:0000684	Delayed eruption of teeth
54880	BCOR	HP:0000678	Dental crowding
54880	BCOR	HP:0000677	Oligodontia
54880	BCOR	HP:0000692	Tooth malposition
54880	BCOR	HP:0000690	Agenesis of maxillary lateral incisor
54880	BCOR	HP:0000689	Dental malocclusion
54880	BCOR	HP:0000667	Phthisis bulbi
54880	BCOR	HP:0004325	Decreased body weight
54880	BCOR	HP:0004322	Short stature
54880	BCOR	HP:0030680	Abnormality of cardiovascular system morphology
54880	BCOR	HP:0003043	Abnormal shoulder morphology
54880	BCOR	HP:0000767	Pectus excavatum
54880	BCOR	HP:0000742	Self-mutilation
54880	BCOR	HP:0000718	Aggressive behavior
54880	BCOR	HP:0000729	Autistic behavior
54880	BCOR	HP:0000774	Narrow chest
54880	BCOR	HP:0000790	Hematuria
54880	BCOR	HP:0005709	2-3 toe cutaneous syndactyly
54880	BCOR	HP:0000889	Abnormal clavicle morphology
54880	BCOR	HP:0000846	Adrenal insufficiency
54880	BCOR	HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe
54880	BCOR	HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe
54880	BCOR	HP:0000821	Hypothyroidism
54880	BCOR	HP:0010280	Stomatitis
54880	BCOR	HP:0040080	Anteverted ears
54880	BCOR	HP:0000894	Short clavicles
54880	BCOR	HP:0010327	Flexion contracture of the 2nd toe
54880	BCOR	HP:0000979	Purpura
54880	BCOR	HP:0000978	Bruising susceptibility
54880	BCOR	HP:0000967	Petechiae
54880	BCOR	HP:0010339	Flexion contracture of the 4th toe
54880	BCOR	HP:0000275	Narrow face
54880	BCOR	HP:0000276	Long face
54880	BCOR	HP:0007733	Laterally curved eyebrow
54880	BCOR	HP:0030084	Clinodactyly
54880	BCOR	HP:0002808	Kyphosis
54880	BCOR	HP:0000252	Microcephaly
54880	BCOR	HP:0000218	High palate
54880	BCOR	HP:0000212	Gingival overgrowth
54880	BCOR	HP:0002875	Exertional dyspnea
54880	BCOR	HP:0000225	Gingival bleeding
54880	BCOR	HP:0002857	Genu valgum
54880	BCOR	HP:0001537	Umbilical hernia
54880	BCOR	HP:0000202	Orofacial cleft
54880	BCOR	HP:0000204	Cleft upper lip
54880	BCOR	HP:0031364	Ecchymosis
54880	BCOR	HP:0001510	Growth delay
54880	BCOR	HP:0011090	Fused teeth
54880	BCOR	HP:0011069	Supernumerary tooth
54880	BCOR	HP:0012378	Fatigue
54880	BCOR	HP:0012385	Camptodactyly
54880	BCOR	HP:0000384	Preauricular skin tag
54880	BCOR	HP:0000378	Cupped ear
54880	BCOR	HP:0000377	Abnormal pinna morphology
54880	BCOR	HP:0000396	Overfolded helix
54880	BCOR	HP:0002938	Lumbar hyperlordosis
54880	BCOR	HP:0006482	Abnormality of dental morphology
54880	BCOR	HP:0000365	Hearing impairment
54880	BCOR	HP:0000358	Posteriorly rotated ears
54880	BCOR	HP:0000369	Low-set ears
54880	BCOR	HP:0000368	Low-set, posteriorly rotated ears
54880	BCOR	HP:0001671	Abnormal cardiac septum morphology
54880	BCOR	HP:0000343	Long philtrum
54880	BCOR	HP:0001650	Aortic valve stenosis
54880	BCOR	HP:0001651	Dextrocardia
54880	BCOR	HP:0012304	Hypoplastic aortic arch
54880	BCOR	HP:0001647	Bicuspid aortic valve
54880	BCOR	HP:0030140	Oral cavity bleeding
54880	BCOR	HP:0001643	Patent ductus arteriosus
54880	BCOR	HP:0001642	Pulmonic stenosis
54880	BCOR	HP:0002974	Radioulnar synostosis
54880	BCOR	HP:0001629	Ventricular septal defect
54880	BCOR	HP:0002967	Cubitus valgus
54880	BCOR	HP:0001631	Atrial septal defect
54880	BCOR	HP:0001634	Mitral valve prolapse
54880	BCOR	HP:0007968	Remnants of the hyaloid vascular system
54880	BCOR	HP:0000407	Sensorineural hearing impairment
54880	BCOR	HP:0000403	Recurrent otitis media
54880	BCOR	HP:0001719	Double outlet right ventricle
54880	BCOR	HP:0000482	Microcornea
54880	BCOR	HP:0000455	Broad nasal tip
54880	BCOR	HP:0000456	Bifid nasal tip
54880	BCOR	HP:0000465	Webbed neck
54880	BCOR	HP:0001765	Hammertoe
54880	BCOR	HP:0001762	Talipes equinovarus
54880	BCOR	HP:0000426	Prominent nasal bridge
54880	BCOR	HP:0000421	Epistaxis
54880	BCOR	HP:0000518	Cataract
54880	BCOR	HP:0000519	Developmental cataract
54880	BCOR	HP:0000528	Anophthalmia
54880	BCOR	HP:0001852	Sandal gap
54880	BCOR	HP:0001824	Weight loss
54880	BCOR	HP:0000508	Ptosis
54880	BCOR	HP:0000505	Visual impairment
54880	BCOR	HP:0000501	Glaucoma
54880	BCOR	HP:0000581	Blepharophimosis
54880	BCOR	HP:0000577	Exotropia
54880	BCOR	HP:0000588	Optic disc coloboma
54880	BCOR	HP:0001892	Abnormal bleeding
54880	BCOR	HP:0000572	Visual loss
54880	BCOR	HP:0000574	Thick eyebrow
54880	BCOR	HP:0000568	Microphthalmia
54880	BCOR	HP:0000567	Chorioretinal coloboma
54880	BCOR	HP:0000541	Retinal detachment
54880	BCOR	HP:0001882	Leukopenia
54880	BCOR	HP:0001873	Thrombocytopenia
54880	BCOR	HP:0001876	Pancytopenia
54880	BCOR	HP:0001875	Neutropenia
54885	TBC1D8B	HP:0003774	Stage 5 chronic kidney disease
54885	TBC1D8B	HP:0002586	Peritonitis
54885	TBC1D8B	HP:0000097	Focal segmental glomerulosclerosis
54885	TBC1D8B	HP:0000093	Proteinuria
54885	TBC1D8B	HP:0001417	X-linked inheritance
54885	TBC1D8B	HP:0002027	Abdominal pain
54885	TBC1D8B	HP:0100539	Periorbital edema
54885	TBC1D8B	HP:0003593	Infantile onset
54885	TBC1D8B	HP:0003577	Congenital onset
54885	TBC1D8B	HP:0003581	Adult onset
54885	TBC1D8B	HP:0011947	Respiratory tract infection
54885	TBC1D8B	HP:0002315	Headache
54885	TBC1D8B	HP:0003621	Juvenile onset
54885	TBC1D8B	HP:0012622	Chronic kidney disease
54885	TBC1D8B	HP:0001967	Diffuse mesangial sclerosis
54885	TBC1D8B	HP:0001945	Fever
54885	TBC1D8B	HP:0003073	Hypoalbuminemia
54885	TBC1D8B	HP:0000737	Irritability
54885	TBC1D8B	HP:0000707	Abnormality of the nervous system
54885	TBC1D8B	HP:0011463	Childhood onset
54885	TBC1D8B	HP:0000969	Edema
54885	TBC1D8B	HP:0031504	Foamy urine
54885	TBC1D8B	HP:0012588	Steroid-resistant nephrotic syndrome
54885	TBC1D8B	HP:0012579	Minimal change glomerulonephritis
54888	NSUN2	HP:0001156	Brachydactyly
54888	NSUN2	HP:0009891	Underdeveloped supraorbital ridges
54888	NSUN2	HP:0001276	Hypertonia
54888	NSUN2	HP:0001250	Seizure
54888	NSUN2	HP:0001252	Hypotonia
54888	NSUN2	HP:0001249	Intellectual disability
54888	NSUN2	HP:0001260	Dysarthria
54888	NSUN2	HP:0001263	Global developmental delay
54888	NSUN2	HP:0001257	Spasticity
54888	NSUN2	HP:0001231	Abnormal fingernail morphology
54888	NSUN2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
54888	NSUN2	HP:0000055	Abnormality of female external genitalia
54888	NSUN2	HP:0000047	Hypospadias
54888	NSUN2	HP:0001347	Hyperreflexia
54888	NSUN2	HP:0001363	Craniosynostosis
54888	NSUN2	HP:0000028	Cryptorchidism
54888	NSUN2	HP:0008897	Postnatal growth retardation
54888	NSUN2	HP:0002664	Neoplasm
54888	NSUN2	HP:0000007	Autosomal recessive inheritance
54888	NSUN2	HP:0002665	Lymphoma
54888	NSUN2	HP:0002650	Scoliosis
54888	NSUN2	HP:0000164	Abnormality of the dentition
54888	NSUN2	HP:0000176	Submucous cleft hard palate
54888	NSUN2	HP:0025435	Increased circulating lactate dehydrogenase concentration
54888	NSUN2	HP:0000154	Wide mouth
54888	NSUN2	HP:0008936	Axial hypotonia
54888	NSUN2	HP:0000126	Hydronephrosis
54888	NSUN2	HP:0002750	Delayed skeletal maturation
54888	NSUN2	HP:0002719	Recurrent infections
54888	NSUN2	HP:0002025	Anal stenosis
54888	NSUN2	HP:0002024	Malabsorption
54888	NSUN2	HP:0002035	Rectal prolapse
54888	NSUN2	HP:0004692	4-5 toe syndactyly
54888	NSUN2	HP:0002028	Chronic diarrhea
54888	NSUN2	HP:0002099	Asthma
54888	NSUN2	HP:0002093	Respiratory insufficiency
54888	NSUN2	HP:0002136	Broad-based gait
54888	NSUN2	HP:0009601	Aplasia/Hypoplasia of the thumb
54888	NSUN2	HP:0009602	Abnormality of thumb phalanx
54888	NSUN2	HP:0003593	Infantile onset
54888	NSUN2	HP:0002213	Fine hair
54888	NSUN2	HP:0002209	Sparse scalp hair
54888	NSUN2	HP:0009738	Abnormal antihelix morphology
54888	NSUN2	HP:0007018	Attention deficit hyperactivity disorder
54888	NSUN2	HP:0002342	Intellectual disability, moderate
54888	NSUN2	HP:0001000	Abnormality of skin pigmentation
54888	NSUN2	HP:0200055	Small hand
54888	NSUN2	HP:0004209	Clinodactyly of the 5th finger
54888	NSUN2	HP:0000639	Nystagmus
54888	NSUN2	HP:0000601	Hypotelorism
54888	NSUN2	HP:0001903	Anemia
54888	NSUN2	HP:0000684	Delayed eruption of teeth
54888	NSUN2	HP:0011304	Broad thumb
54888	NSUN2	HP:0000664	Synophrys
54888	NSUN2	HP:0000666	Horizontal nystagmus
54888	NSUN2	HP:0004322	Short stature
54888	NSUN2	HP:0030680	Abnormality of cardiovascular system morphology
54888	NSUN2	HP:0005692	Joint hyperflexibility
54888	NSUN2	HP:0000767	Pectus excavatum
54888	NSUN2	HP:0000750	Delayed speech and language development
54888	NSUN2	HP:0000829	Hypoparathyroidism
54888	NSUN2	HP:0003236	Elevated circulating creatine kinase concentration
54888	NSUN2	HP:0003298	Spina bifida occulta
54888	NSUN2	HP:0000992	Cutaneous photosensitivity
54888	NSUN2	HP:0000958	Dry skin
54888	NSUN2	HP:0000965	Cutis marmorata
54888	NSUN2	HP:0000964	Eczema
54888	NSUN2	HP:0000960	Sacral dimple
54888	NSUN2	HP:0008070	Sparse hair
54888	NSUN2	HP:0000286	Epicanthus
54888	NSUN2	HP:0000294	Low anterior hairline
54888	NSUN2	HP:0000260	Wide anterior fontanel
54888	NSUN2	HP:0000275	Narrow face
54888	NSUN2	HP:0000276	Long face
54888	NSUN2	HP:0000270	Delayed cranial suture closure
54888	NSUN2	HP:0000238	Hydrocephalus
54888	NSUN2	HP:0000252	Microcephaly
54888	NSUN2	HP:0000218	High palate
54888	NSUN2	HP:0000215	Thick upper lip vermilion
54888	NSUN2	HP:0001518	Small for gestational age
54888	NSUN2	HP:0001511	Intrauterine growth retardation
54888	NSUN2	HP:0000365	Hearing impairment
54888	NSUN2	HP:0000368	Low-set, posteriorly rotated ears
54888	NSUN2	HP:0000340	Sloping forehead
54888	NSUN2	HP:0000347	Micrognathia
54888	NSUN2	HP:0000319	Smooth philtrum
54888	NSUN2	HP:0000316	Hypertelorism
54888	NSUN2	HP:0000331	Short chin
54888	NSUN2	HP:0000322	Short philtrum
54888	NSUN2	HP:0005338	Sparse lateral eyebrow
54888	NSUN2	HP:0005280	Depressed nasal bridge
54888	NSUN2	HP:0000486	Strabismus
54888	NSUN2	HP:0001771	Achilles tendon contracture
54888	NSUN2	HP:0001770	Toe syndactyly
54888	NSUN2	HP:0001773	Short foot
54888	NSUN2	HP:0000448	Prominent nose
54888	NSUN2	HP:0000411	Protruding ear
54888	NSUN2	HP:0000431	Wide nasal bridge
54888	NSUN2	HP:0000430	Underdeveloped nasal alae
54888	NSUN2	HP:0001761	Pes cavus
54888	NSUN2	HP:0000426	Prominent nasal bridge
54888	NSUN2	HP:0006721	Acute lymphoblastic leukemia
54888	NSUN2	HP:0000518	Cataract
54888	NSUN2	HP:0001840	Metatarsus adductus
54888	NSUN2	HP:0001852	Sandal gap
54888	NSUN2	HP:0000506	Telecanthus
54888	NSUN2	HP:0000508	Ptosis
54888	NSUN2	HP:0001800	Hypoplastic toenails
54888	NSUN2	HP:0000581	Blepharophimosis
54888	NSUN2	HP:0000574	Thick eyebrow
54888	NSUN2	HP:0001874	Abnormality of neutrophils
54888	NSUN2	HP:0001873	Thrombocytopenia
54888	NSUN2	HP:0000545	Myopia
54892	NCAPG2	HP:0001128	Trichiasis
54892	NCAPG2	HP:0001276	Hypertonia
54892	NCAPG2	HP:0001252	Hypotonia
54892	NCAPG2	HP:0001263	Global developmental delay
54892	NCAPG2	HP:0002553	Highly arched eyebrow
54892	NCAPG2	HP:0000089	Renal hypoplasia
54892	NCAPG2	HP:0000076	Vesicoureteral reflux
54892	NCAPG2	HP:0000073	Ureteral duplication
54892	NCAPG2	HP:0001344	Absent speech
54892	NCAPG2	HP:0000007	Autosomal recessive inheritance
54892	NCAPG2	HP:0001320	Cerebellar vermis hypoplasia
54892	NCAPG2	HP:0002650	Scoliosis
54892	NCAPG2	HP:0001476	Delayed closure of the anterior fontanelle
54892	NCAPG2	HP:0000126	Hydronephrosis
54892	NCAPG2	HP:0000107	Renal cyst
54892	NCAPG2	HP:0002015	Dysphagia
54892	NCAPG2	HP:0002007	Frontal bossing
54892	NCAPG2	HP:0002144	Tethered cord
54892	NCAPG2	HP:0002119	Ventriculomegaly
54892	NCAPG2	HP:0010535	Sleep apnea
54892	NCAPG2	HP:0003577	Congenital onset
54892	NCAPG2	HP:0011968	Feeding difficulties
54892	NCAPG2	HP:0010804	Tented upper lip vermilion
54892	NCAPG2	HP:0000639	Nystagmus
54892	NCAPG2	HP:0001903	Anemia
54892	NCAPG2	HP:0000659	Peters anomaly
54892	NCAPG2	HP:0004322	Short stature
54892	NCAPG2	HP:0031936	Delayed ability to walk
54892	NCAPG2	HP:0003196	Short nose
54892	NCAPG2	HP:0034392	Joint contracture
54892	NCAPG2	HP:0011649	Patent ductus arteriosus after premature birth
54892	NCAPG2	HP:0100259	Postaxial polydactyly
54892	NCAPG2	HP:0000960	Sacral dimple
54892	NCAPG2	HP:0011668	Bilateral superior vena cava with no bridging vein
54892	NCAPG2	HP:0030084	Clinodactyly
54892	NCAPG2	HP:0000252	Microcephaly
54892	NCAPG2	HP:0000207	Triangular mouth
54892	NCAPG2	HP:0001508	Failure to thrive
54892	NCAPG2	HP:0030048	Colpocephaly
54892	NCAPG2	HP:0001511	Intrauterine growth retardation
54892	NCAPG2	HP:0005180	Tricuspid regurgitation
54892	NCAPG2	HP:0000347	Micrognathia
54892	NCAPG2	HP:0001655	Patent foramen ovale
54892	NCAPG2	HP:0000407	Sensorineural hearing impairment
54892	NCAPG2	HP:0000486	Strabismus
54892	NCAPG2	HP:0000505	Visual impairment
54892	NCAPG2	HP:0000501	Glaucoma
54892	NCAPG2	HP:0000580	Pigmentary retinopathy
54892	NCAPG2	HP:0011225	Epiblepharon
54892	NCAPG2	HP:0000557	Buphthalmos
54892	NCAPG2	HP:0001888	Lymphopenia
54892	NCAPG2	HP:0000559	Corneal scarring
54892	NCAPG2	HP:0001875	Neutropenia
54894	RNF43	HP:0032222	Serrated intestinal polyps
54894	RNF43	HP:0100808	Gastric diverticulum
54894	RNF43	HP:0100834	Neoplasm of the large intestine
54894	RNF43	HP:0000006	Autosomal dominant inheritance
54894	RNF43	HP:0012189	Hodgkin lymphoma
54894	RNF43	HP:0012125	Prostate cancer
54894	RNF43	HP:0100574	Biliary tract neoplasm
54894	RNF43	HP:0100728	Germ cell neoplasia
54894	RNF43	HP:0200063	Colorectal polyposis
54894	RNF43	HP:0100615	Ovarian neoplasm
54894	RNF43	HP:0003002	Breast carcinoma
54894	RNF43	HP:0100008	Schwannoma
54894	RNF43	HP:0002861	Melanoma
54894	RNF43	HP:0002862	Bladder carcinoma
54894	RNF43	HP:0005227	Adenomatous colonic polyposis
54894	RNF43	HP:0006725	Pancreatic adenocarcinoma
54897	CASZ1	HP:0001156	Brachydactyly
54897	CASZ1	HP:0002465	Poor speech
54897	CASZ1	HP:0001107	Ocular albinism
54897	CASZ1	HP:0008551	Microtia
54897	CASZ1	HP:0001274	Agenesis of corpus callosum
54897	CASZ1	HP:0001288	Gait disturbance
54897	CASZ1	HP:0001250	Seizure
54897	CASZ1	HP:0001252	Hypotonia
54897	CASZ1	HP:0001249	Intellectual disability
54897	CASZ1	HP:0002591	Polyphagia
54897	CASZ1	HP:0001263	Global developmental delay
54897	CASZ1	HP:0008736	Hypoplasia of penis
54897	CASZ1	HP:0001397	Hepatic steatosis
54897	CASZ1	HP:0001392	Abnormality of the liver
54897	CASZ1	HP:0000077	Abnormality of the kidney
54897	CASZ1	HP:0000055	Abnormality of female external genitalia
54897	CASZ1	HP:0001385	Hip dysplasia
54897	CASZ1	HP:0001387	Joint stiffness
54897	CASZ1	HP:0000047	Hypospadias
54897	CASZ1	HP:0000028	Cryptorchidism
54897	CASZ1	HP:0008872	Feeding difficulties in infancy
54897	CASZ1	HP:0001344	Absent speech
54897	CASZ1	HP:0002650	Scoliosis
54897	CASZ1	HP:0000160	Narrow mouth
54897	CASZ1	HP:0000135	Hypogonadism
54897	CASZ1	HP:0000126	Hydronephrosis
54897	CASZ1	HP:0000107	Renal cyst
54897	CASZ1	HP:0002715	Abnormality of the immune system
54897	CASZ1	HP:0002021	Pyloric stenosis
54897	CASZ1	HP:0002020	Gastroesophageal reflux
54897	CASZ1	HP:0002019	Constipation
54897	CASZ1	HP:0002015	Dysphagia
54897	CASZ1	HP:0002007	Frontal bossing
54897	CASZ1	HP:0011800	Midface retrusion
54897	CASZ1	HP:0100559	Lower limb asymmetry
54897	CASZ1	HP:0002120	Cerebral cortical atrophy
54897	CASZ1	HP:0002119	Ventriculomegaly
54897	CASZ1	HP:0003416	Spinal canal stenosis
54897	CASZ1	HP:0002167	Abnormality of speech or vocalization
54897	CASZ1	HP:0100490	Camptodactyly of finger
54897	CASZ1	HP:0002242	Abnormal intestine morphology
54897	CASZ1	HP:0100716	Self-injurious behavior
54897	CASZ1	HP:0002230	Generalized hirsutism
54897	CASZ1	HP:0001009	Telangiectasia
54897	CASZ1	HP:0002353	EEG abnormality
54897	CASZ1	HP:0008499	High hypermetropia
54897	CASZ1	HP:0004209	Clinodactyly of the 5th finger
54897	CASZ1	HP:0006824	Cranial nerve paralysis
54897	CASZ1	HP:0000639	Nystagmus
54897	CASZ1	HP:0000648	Optic atrophy
54897	CASZ1	HP:0004322	Short stature
54897	CASZ1	HP:0030680	Abnormality of cardiovascular system morphology
54897	CASZ1	HP:0004378	Abnormality of the anus
54897	CASZ1	HP:0004374	Hemiplegia/hemiparesis
54897	CASZ1	HP:0003006	Neuroblastoma
54897	CASZ1	HP:0012733	Macule
54897	CASZ1	HP:0000733	Abnormal repetitive mannerisms
54897	CASZ1	HP:0000750	Delayed speech and language development
54897	CASZ1	HP:0000717	Autism
54897	CASZ1	HP:0000708	Atypical behavior
54897	CASZ1	HP:0003198	Myopathy
54897	CASZ1	HP:0000902	Rib fusion
54897	CASZ1	HP:0000878	11 pairs of ribs
54897	CASZ1	HP:0000892	Bifid ribs
54897	CASZ1	HP:0000821	Hypothyroidism
54897	CASZ1	HP:0008066	Abnormal blistering of the skin
54897	CASZ1	HP:0000286	Epicanthus
54897	CASZ1	HP:0000270	Delayed cranial suture closure
54897	CASZ1	HP:0005113	Aortic arch aneurysm
54897	CASZ1	HP:0002808	Kyphosis
54897	CASZ1	HP:0000252	Microcephaly
54897	CASZ1	HP:0000248	Brachycephaly
54897	CASZ1	HP:0001508	Failure to thrive
54897	CASZ1	HP:0001513	Obesity
54897	CASZ1	HP:0000368	Low-set, posteriorly rotated ears
54897	CASZ1	HP:0001671	Abnormal cardiac septum morphology
54897	CASZ1	HP:0000343	Long philtrum
54897	CASZ1	HP:0001643	Patent ductus arteriosus
54897	CASZ1	HP:0001644	Dilated cardiomyopathy
54897	CASZ1	HP:0001654	Abnormal heart valve morphology
54897	CASZ1	HP:0001636	Tetralogy of Fallot
54897	CASZ1	HP:0000307	Pointed chin
54897	CASZ1	HP:0000407	Sensorineural hearing impairment
54897	CASZ1	HP:0001734	Annular pancreas
54897	CASZ1	HP:0000405	Conductive hearing impairment
54897	CASZ1	HP:0005280	Depressed nasal bridge
54897	CASZ1	HP:0000486	Strabismus
54897	CASZ1	HP:0000490	Deeply set eye
54897	CASZ1	HP:0000464	Abnormality of the neck
54897	CASZ1	HP:0000457	Depressed nasal ridge
54897	CASZ1	HP:0001773	Short foot
54897	CASZ1	HP:0001743	Abnormality of the spleen
54897	CASZ1	HP:0000431	Wide nasal bridge
54897	CASZ1	HP:0000518	Cataract
54897	CASZ1	HP:0001829	Foot polydactyly
54897	CASZ1	HP:0000505	Visual impairment
54897	CASZ1	HP:0000504	Abnormality of vision
54897	CASZ1	HP:0011228	Horizontal eyebrow
54897	CASZ1	HP:0000534	Abnormal eyebrow morphology
54902	TTC19	HP:0007289	Limb fasciculations
54902	TTC19	HP:0001272	Cerebellar atrophy
54902	TTC19	HP:0001256	Intellectual disability, mild
54902	TTC19	HP:0001251	Ataxia
54902	TTC19	HP:0001260	Dysarthria
54902	TTC19	HP:0001263	Global developmental delay
54902	TTC19	HP:0001259	Coma
54902	TTC19	HP:0002542	Olivopontocerebellar atrophy
54902	TTC19	HP:0001347	Hyperreflexia
54902	TTC19	HP:0001332	Dystonia
54902	TTC19	HP:0001324	Muscle weakness
54902	TTC19	HP:0000007	Autosomal recessive inheritance
54902	TTC19	HP:0001337	Tremor
54902	TTC19	HP:0001310	Dysmetria
54902	TTC19	HP:0002650	Scoliosis
54902	TTC19	HP:0002015	Dysphagia
54902	TTC19	HP:0100543	Cognitive impairment
54902	TTC19	HP:0002067	Bradykinesia
54902	TTC19	HP:0002066	Gait ataxia
54902	TTC19	HP:0002075	Dysdiadochokinesis
54902	TTC19	HP:0002070	Limb ataxia
54902	TTC19	HP:0002059	Cerebral atrophy
54902	TTC19	HP:0003487	Babinski sign
54902	TTC19	HP:0002120	Cerebral cortical atrophy
54902	TTC19	HP:0011924	Decreased activity of mitochondrial complex III
54902	TTC19	HP:0002186	Apraxia
54902	TTC19	HP:0002180	Neurodegeneration
54902	TTC19	HP:0010521	Gait apraxia
54902	TTC19	HP:0003596	Middle age onset
54902	TTC19	HP:0002385	Paraparesis
54902	TTC19	HP:0002322	Resting tremor
54902	TTC19	HP:0002313	Spastic paraparesis
54902	TTC19	HP:0002311	Incoordination
54902	TTC19	HP:0003621	Juvenile onset
54902	TTC19	HP:0000639	Nystagmus
54902	TTC19	HP:0000651	Diplopia
54902	TTC19	HP:0000764	Peripheral axonal degeneration
54902	TTC19	HP:0000738	Hallucinations
54902	TTC19	HP:0000739	Anxiety
54902	TTC19	HP:0000735	Impaired social interactions
54902	TTC19	HP:0000745	Diminished motivation
54902	TTC19	HP:0000716	Depression
54902	TTC19	HP:0000718	Aggressive behavior
54902	TTC19	HP:0000709	Psychosis
54902	TTC19	HP:0011463	Childhood onset
54902	TTC19	HP:0003202	Skeletal muscle atrophy
54902	TTC19	HP:0034332	Cognitive regression
54902	TTC19	HP:0002871	Central apnea
54902	TTC19	HP:0001618	Dysphonia
54902	TTC19	HP:0000365	Hearing impairment
54903	MKS1	HP:0001177	Preaxial hand polydactyly
54903	MKS1	HP:0001162	Postaxial hand polydactyly
54903	MKS1	HP:0001161	Hand polydactyly
54903	MKS1	HP:0001159	Syndactyly
54903	MKS1	HP:0009931	Enlarged naris
54903	MKS1	HP:0001195	Single umbilical artery
54903	MKS1	HP:0002419	Molar tooth sign on MRI
54903	MKS1	HP:0001290	Generalized hypotonia
54903	MKS1	HP:0001274	Agenesis of corpus callosum
54903	MKS1	HP:0001288	Gait disturbance
54903	MKS1	HP:0001250	Seizure
54903	MKS1	HP:0001252	Hypotonia
54903	MKS1	HP:0001251	Ataxia
54903	MKS1	HP:0001249	Intellectual disability
54903	MKS1	HP:0001260	Dysarthria
54903	MKS1	HP:0001263	Global developmental delay
54903	MKS1	HP:0002566	Intestinal malrotation
54903	MKS1	HP:0006101	Finger syndactyly
54903	MKS1	HP:0008736	Hypoplasia of penis
54903	MKS1	HP:0008724	Hypoplasia of the ovary
54903	MKS1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
54903	MKS1	HP:0002553	Highly arched eyebrow
54903	MKS1	HP:0000068	Urethral atresia
54903	MKS1	HP:0000062	Ambiguous genitalia
54903	MKS1	HP:0000061	Ambiguous genitalia, female
54903	MKS1	HP:0001395	Hepatic fibrosis
54903	MKS1	HP:0000073	Ureteral duplication
54903	MKS1	HP:0000069	Abnormality of the ureter
54903	MKS1	HP:0025336	Delayed ability to sit
54903	MKS1	HP:0000037	Male pseudohermaphroditism
54903	MKS1	HP:0001388	Joint laxity
54903	MKS1	HP:0000033	Ambiguous genitalia, male
54903	MKS1	HP:0000028	Cryptorchidism
54903	MKS1	HP:0008872	Feeding difficulties in infancy
54903	MKS1	HP:0001341	Olfactory lobe agenesis
54903	MKS1	HP:0001344	Absent speech
54903	MKS1	HP:0000007	Autosomal recessive inheritance
54903	MKS1	HP:0000003	Multicystic kidney dysplasia
54903	MKS1	HP:0001337	Tremor
54903	MKS1	HP:0001305	Dandy-Walker malformation
54903	MKS1	HP:0001320	Cerebellar vermis hypoplasia
54903	MKS1	HP:0002650	Scoliosis
54903	MKS1	HP:0001321	Cerebellar hypoplasia
54903	MKS1	HP:0002617	Vascular dilatation
54903	MKS1	HP:0002612	Congenital hepatic fibrosis
54903	MKS1	HP:0000180	Lobulated tongue
54903	MKS1	HP:0000175	Cleft palate
54903	MKS1	HP:0000135	Hypogonadism
54903	MKS1	HP:0000154	Wide mouth
54903	MKS1	HP:0008936	Axial hypotonia
54903	MKS1	HP:0006267	Large placenta
54903	MKS1	HP:0000113	Polycystic kidney dysplasia
54903	MKS1	HP:0002793	Abnormal pattern of respiration
54903	MKS1	HP:0000130	Abnormality of the uterus
54903	MKS1	HP:0000100	Nephrotic syndrome
54903	MKS1	HP:0000104	Renal agenesis
54903	MKS1	HP:0001408	Bile duct proliferation
54903	MKS1	HP:0002023	Anal atresia
54903	MKS1	HP:0003312	Abnormal form of the vertebral bodies
54903	MKS1	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
54903	MKS1	HP:0002089	Pulmonary hypoplasia
54903	MKS1	HP:0002085	Occipital encephalocele
54903	MKS1	HP:0002084	Encephalocele
54903	MKS1	HP:0010442	Polydactyly
54903	MKS1	HP:0009466	Radial deviation of finger
54903	MKS1	HP:0010459	True hermaphroditism
54903	MKS1	HP:0003468	Abnormal vertebral morphology
54903	MKS1	HP:0002119	Ventriculomegaly
54903	MKS1	HP:0002126	Polymicrogyria
54903	MKS1	HP:0002104	Apnea
54903	MKS1	HP:0002198	Dilated fourth ventricle
54903	MKS1	HP:0002167	Abnormality of speech or vocalization
54903	MKS1	HP:0100490	Camptodactyly of finger
54903	MKS1	HP:0002269	Abnormality of neuronal migration
54903	MKS1	HP:0003577	Congenital onset
54903	MKS1	HP:0002251	Aganglionic megacolon
54903	MKS1	HP:0002230	Generalized hirsutism
54903	MKS1	HP:0100732	Pancreatic fibrosis
54903	MKS1	HP:0011968	Feeding difficulties
54903	MKS1	HP:0002395	Lower limb hyperreflexia
54903	MKS1	HP:0002323	Anencephaly
54903	MKS1	HP:0010747	Medial flaring of the eyebrow
54903	MKS1	HP:0002308	Chiari malformation
54903	MKS1	HP:0006870	Lobar holoprosencephaly
54903	MKS1	HP:0006872	Cerebral hypoplasia
54903	MKS1	HP:0000639	Nystagmus
54903	MKS1	HP:0000648	Optic atrophy
54903	MKS1	HP:0000647	Sclerocornea
54903	MKS1	HP:0000612	Iris coloboma
54903	MKS1	HP:0000601	Hypotelorism
54903	MKS1	HP:0000695	Natal tooth
54903	MKS1	HP:0000657	Oculomotor apraxia
54903	MKS1	HP:0004322	Short stature
54903	MKS1	HP:0030680	Abnormality of cardiovascular system morphology
54903	MKS1	HP:0000800	Cystic renal dysplasia
54903	MKS1	HP:0034198	Second trimester onset
54903	MKS1	HP:0031936	Delayed ability to walk
54903	MKS1	HP:0000750	Delayed speech and language development
54903	MKS1	HP:0011461	Fetal onset
54903	MKS1	HP:0004422	Biparietal narrowing
54903	MKS1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
54903	MKS1	HP:0000835	Adrenal hypoplasia
54903	MKS1	HP:0000822	Hypertension
54903	MKS1	HP:0010295	Aplasia/Hypoplasia of the tongue
54903	MKS1	HP:0003241	External genital hypoplasia
54903	MKS1	HP:0003202	Skeletal muscle atrophy
54903	MKS1	HP:0100259	Postaxial polydactyly
54903	MKS1	HP:0008053	Aplasia/Hypoplasia of the iris
54903	MKS1	HP:0000293	Full cheeks
54903	MKS1	HP:0000276	Long face
54903	MKS1	HP:0007737	Bone spicule pigmentation of the retina
54903	MKS1	HP:0030084	Clinodactyly
54903	MKS1	HP:0000238	Hydrocephalus
54903	MKS1	HP:0001583	Rotary nystagmus
54903	MKS1	HP:0000252	Microcephaly
54903	MKS1	HP:0000221	Furrowed tongue
54903	MKS1	HP:0000219	Thin upper lip vermilion
54903	MKS1	HP:0002876	Episodic tachypnea
54903	MKS1	HP:0001562	Oligohydramnios
54903	MKS1	HP:0001539	Omphalocele
54903	MKS1	HP:0000202	Orofacial cleft
54903	MKS1	HP:0000204	Cleft upper lip
54903	MKS1	HP:0001511	Intrauterine growth retardation
54903	MKS1	HP:0001513	Obesity
54903	MKS1	HP:0007843	Attenuation of retinal blood vessels
54903	MKS1	HP:0006563	Malformation of the hepatic ductal plate
54903	MKS1	HP:0001600	Abnormality of the larynx
54903	MKS1	HP:0006487	Bowing of the long bones
54903	MKS1	HP:0001696	Situs inversus totalis
54903	MKS1	HP:0000365	Hearing impairment
54903	MKS1	HP:0000369	Low-set ears
54903	MKS1	HP:0000368	Low-set, posteriorly rotated ears
54903	MKS1	HP:0001671	Abnormal cardiac septum morphology
54903	MKS1	HP:0000340	Sloping forehead
54903	MKS1	HP:0000337	Broad forehead
54903	MKS1	HP:0001680	Coarctation of aorta
54903	MKS1	HP:0000347	Micrognathia
54903	MKS1	HP:0001651	Dextrocardia
54903	MKS1	HP:0000319	Smooth philtrum
54903	MKS1	HP:0000316	Hypertelorism
54903	MKS1	HP:0001643	Patent ductus arteriosus
54903	MKS1	HP:0001623	Breech presentation
54903	MKS1	HP:0005343	Hypoplasia of the bladder
54903	MKS1	HP:0001737	Pancreatic cysts
54903	MKS1	HP:0000486	Strabismus
54903	MKS1	HP:0000480	Retinal coloboma
54903	MKS1	HP:0000482	Microcornea
54903	MKS1	HP:0000494	Downslanted palpebral fissures
54903	MKS1	HP:0000463	Anteverted nares
54903	MKS1	HP:0000457	Depressed nasal ridge
54903	MKS1	HP:0000470	Short neck
54903	MKS1	HP:0000465	Webbed neck
54903	MKS1	HP:0001746	Asplenia
54903	MKS1	HP:0001747	Accessory spleen
54903	MKS1	HP:0001744	Splenomegaly
54903	MKS1	HP:0000431	Wide nasal bridge
54903	MKS1	HP:0000426	Prominent nasal bridge
54903	MKS1	HP:0006706	Cystic liver disease
54903	MKS1	HP:0000518	Cataract
54903	MKS1	HP:0000510	Rod-cone dystrophy
54903	MKS1	HP:0000512	Abnormal electroretinogram
54903	MKS1	HP:0000528	Anophthalmia
54903	MKS1	HP:0001829	Foot polydactyly
54903	MKS1	HP:0000508	Ptosis
54903	MKS1	HP:0001830	Postaxial foot polydactyly
54903	MKS1	HP:0000580	Pigmentary retinopathy
54903	MKS1	HP:0000556	Retinal dystrophy
54903	MKS1	HP:0000572	Visual loss
54903	MKS1	HP:0000568	Microphthalmia
54903	MKS1	HP:0000537	Epicanthus inversus
54903	MKS1	HP:0000532	Abnormal chorioretinal morphology
54903	MKS1	HP:0001883	Talipes
54903	MKS1	HP:0000543	Optic disc pallor
54914	FOCAD	HP:0002480	Hepatic encephalopathy
54914	FOCAD	HP:0100806	Sepsis
54914	FOCAD	HP:0100814	Blue nevus
54914	FOCAD	HP:0100827	Lymphocytosis
54914	FOCAD	HP:0002586	Peritonitis
54914	FOCAD	HP:0001252	Hypotonia
54914	FOCAD	HP:0002594	Pancreatic hypoplasia
54914	FOCAD	HP:0001397	Hepatic steatosis
54914	FOCAD	HP:0001399	Hepatic failure
54914	FOCAD	HP:0001388	Joint laxity
54914	FOCAD	HP:0000047	Hypospadias
54914	FOCAD	HP:0000023	Inguinal hernia
54914	FOCAD	HP:0000034	Hydrocele testis
54914	FOCAD	HP:0001357	Plagiocephaly
54914	FOCAD	HP:0000010	Recurrent urinary tract infections
54914	FOCAD	HP:0000007	Autosomal recessive inheritance
54914	FOCAD	HP:0031142	Abnormal hepatic echogenicity
54914	FOCAD	HP:0031295	Left atrial enlargement
54914	FOCAD	HP:0006254	Elevated circulating alpha-fetoprotein concentration
54914	FOCAD	HP:0000126	Hydronephrosis
54914	FOCAD	HP:0001406	Intrahepatic cholestasis
54914	FOCAD	HP:0003355	Aminoaciduria
54914	FOCAD	HP:0003348	Hyperalaninemia
54914	FOCAD	HP:0002014	Diarrhea
54914	FOCAD	HP:0002013	Vomiting
54914	FOCAD	HP:0033193	Ballooning hepatocyte degeneration
54914	FOCAD	HP:0033196	Portal inflammation
54914	FOCAD	HP:0002090	Pneumonia
54914	FOCAD	HP:0100512	Low levels of vitamin D
54914	FOCAD	HP:0100513	Low levels of vitamin E
54914	FOCAD	HP:0100598	Pulmonary edema
54914	FOCAD	HP:0002188	Delayed CNS myelination
54914	FOCAD	HP:0004719	Hyperechogenic kidneys
54914	FOCAD	HP:0003593	Infantile onset
54914	FOCAD	HP:0003577	Congenital onset
54914	FOCAD	HP:0002243	Protein-losing enteropathy
54914	FOCAD	HP:0002240	Hepatomegaly
54914	FOCAD	HP:0008404	Nail dystrophy
54914	FOCAD	HP:0007010	Poor fine motor coordination
54914	FOCAD	HP:0010648	Dermal translucency
54914	FOCAD	HP:0011968	Feeding difficulties
54914	FOCAD	HP:0025053	Elevated brain N-acetyl aspartate level by MRS
54914	FOCAD	HP:0009797	Cholesteatoma
54914	FOCAD	HP:0003623	Neonatal onset
54914	FOCAD	HP:0003621	Juvenile onset
54914	FOCAD	HP:0004905	Low levels of vitamin A
54914	FOCAD	HP:0000639	Nystagmus
54914	FOCAD	HP:0001942	Metabolic acidosis
54914	FOCAD	HP:0001954	Recurrent fever
54914	FOCAD	HP:0001928	Abnormality of coagulation
54914	FOCAD	HP:0001903	Anemia
54914	FOCAD	HP:0011359	Dry hair
54914	FOCAD	HP:0012653	Status asthmaticus
54914	FOCAD	HP:0001987	Hyperammonemia
54914	FOCAD	HP:0003075	Hypoproteinemia
54914	FOCAD	HP:0004395	Malnutrition
54914	FOCAD	HP:0012735	Cough
54914	FOCAD	HP:0000737	Irritability
54914	FOCAD	HP:0000736	Short attention span
54914	FOCAD	HP:0000750	Delayed speech and language development
54914	FOCAD	HP:0012758	Neurodevelopmental delay
54914	FOCAD	HP:0004488	Macrocephaly at birth
54914	FOCAD	HP:0100327	Cow milk allergy
54914	FOCAD	HP:0000825	Hyperinsulinemic hypoglycemia
54914	FOCAD	HP:0003270	Abdominal distention
54914	FOCAD	HP:0003281	Increased circulating ferritin concentration
54914	FOCAD	HP:0000952	Jaundice
54914	FOCAD	HP:0000964	Eczema
54914	FOCAD	HP:0000286	Epicanthus
54914	FOCAD	HP:0033994	Dependency on parenteral nutrition
54914	FOCAD	HP:0001541	Ascites
54914	FOCAD	HP:0001537	Umbilical hernia
54914	FOCAD	HP:0001508	Failure to thrive
54914	FOCAD	HP:0001511	Intrauterine growth retardation
54914	FOCAD	HP:0031508	Abnormal circulating thyroid hormone concentration
54914	FOCAD	HP:0005231	Chronic gastritis
54914	FOCAD	HP:0006560	Biliary hyperplasia
54914	FOCAD	HP:0006568	Increased hepatic glycogen content
54914	FOCAD	HP:0002910	Elevated hepatic transaminase
54914	FOCAD	HP:0002904	Hyperbilirubinemia
54914	FOCAD	HP:0002902	Hyponatremia
54914	FOCAD	HP:0002901	Hypocalcemia
54914	FOCAD	HP:0005162	Abnormal left ventricular function
54914	FOCAD	HP:0001682	Subvalvular aortic stenosis
54914	FOCAD	HP:0025631	Alpha-aminobutyric aciduria
54914	FOCAD	HP:0000348	High forehead
54914	FOCAD	HP:0000347	Micrognathia
54914	FOCAD	HP:0001643	Patent ductus arteriosus
54914	FOCAD	HP:0000325	Triangular face
54914	FOCAD	HP:0001655	Patent foramen ovale
54914	FOCAD	HP:0001629	Ventricular septal defect
54914	FOCAD	HP:0001640	Cardiomegaly
54914	FOCAD	HP:0001631	Atrial septal defect
54914	FOCAD	HP:0006698	Dilatation of the ventricular cavity
54914	FOCAD	HP:0001738	Exocrine pancreatic insufficiency
54914	FOCAD	HP:0000403	Recurrent otitis media
54914	FOCAD	HP:0005280	Depressed nasal bridge
54914	FOCAD	HP:0030215	Inappropriate crying
54914	FOCAD	HP:0012465	Elevated hepatic iron concentration
54914	FOCAD	HP:0000418	Narrow nasal ridge
54914	FOCAD	HP:0001744	Splenomegaly
54914	FOCAD	HP:0000520	Proptosis
54914	FOCAD	HP:0031664	Systolic heart murmur
54914	FOCAD	HP:0001882	Leukopenia
54914	FOCAD	HP:0001873	Thrombocytopenia
54916	TMEM260	HP:0007430	Generalized edema
54916	TMEM260	HP:0000083	Renal insufficiency
54916	TMEM260	HP:0012020	Right aortic arch
54916	TMEM260	HP:0001338	Partial agenesis of the corpus callosum
54916	TMEM260	HP:0000007	Autosomal recessive inheritance
54916	TMEM260	HP:0001319	Neonatal hypotonia
54916	TMEM260	HP:0000107	Renal cyst
54916	TMEM260	HP:0010773	Partial anomalous pulmonary venous return
54916	TMEM260	HP:0001999	Abnormal facial shape
54916	TMEM260	HP:0003259	Elevated circulating creatinine concentration
54916	TMEM260	HP:0011662	Tricuspid atresia
54916	TMEM260	HP:0011611	Interrupted aortic arch
54916	TMEM260	HP:0000961	Cyanosis
54916	TMEM260	HP:0000252	Microcephaly
54916	TMEM260	HP:0001522	Death in infancy
54916	TMEM260	HP:0000384	Preauricular skin tag
54916	TMEM260	HP:0000369	Low-set ears
54916	TMEM260	HP:0001660	Truncus arteriosus
54916	TMEM260	HP:0001629	Ventricular septal defect
54916	TMEM260	HP:0001636	Tetralogy of Fallot
54916	TMEM260	HP:0001631	Atrial septal defect
54916	TMEM260	HP:0005301	Persistent left superior vena cava
54916	TMEM260	HP:0000465	Webbed neck
54916	TMEM260	HP:0001845	Overlapping toe
54916	TMEM260	HP:0031664	Systolic heart murmur
54919	DNAAF5	HP:0025177	Peribronchovascular interstitial thickening
54919	DNAAF5	HP:0002566	Intestinal malrotation
54919	DNAAF5	HP:0001217	Clubbing
54919	DNAAF5	HP:0000007	Autosomal recessive inheritance
54919	DNAAF5	HP:0002643	Neonatal respiratory distress
54919	DNAAF5	HP:0000119	Abnormality of the genitourinary system
54919	DNAAF5	HP:0032543	Lithoptysis
54919	DNAAF5	HP:0031245	Productive cough
54919	DNAAF5	HP:0002011	Morphological central nervous system abnormality
54919	DNAAF5	HP:0100582	Nasal polyposis
54919	DNAAF5	HP:0002119	Ventriculomegaly
54919	DNAAF5	HP:0002110	Bronchiectasis
54919	DNAAF5	HP:0008222	Female infertility
54919	DNAAF5	HP:0003593	Infantile onset
54919	DNAAF5	HP:0002257	Chronic rhinitis
54919	DNAAF5	HP:0100750	Atelectasis
54919	DNAAF5	HP:0032016	Abnormal sputum
54919	DNAAF5	HP:0011947	Respiratory tract infection
54919	DNAAF5	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
54919	DNAAF5	HP:0010772	Anomalous pulmonary venous return
54919	DNAAF5	HP:0003623	Neonatal onset
54919	DNAAF5	HP:0030680	Abnormality of cardiovascular system morphology
54919	DNAAF5	HP:0000750	Delayed speech and language development
54919	DNAAF5	HP:0000924	Abnormality of the skeletal system
54919	DNAAF5	HP:0004469	Chronic bronchitis
54919	DNAAF5	HP:0011539	Atrial situs ambiguous
54919	DNAAF5	HP:0011535	Abnormal atrial arrangement
54919	DNAAF5	HP:0030828	Wheezing
54919	DNAAF5	HP:0003251	Male infertility
54919	DNAAF5	HP:0011617	Pulmonary situs ambiguus
54919	DNAAF5	HP:0033036	Decreased nasal nitric oxide
54919	DNAAF5	HP:0025576	Abnormal inferior vena cava morphology
54919	DNAAF5	HP:0012257	Absent inner dynein arms
54919	DNAAF5	HP:0012265	Ciliary dyskinesia
54919	DNAAF5	HP:0012263	Immotile cilia
54919	DNAAF5	HP:0012256	Absent outer dynein arms
54919	DNAAF5	HP:0000238	Hydrocephalus
54919	DNAAF5	HP:0012206	Abnormal sperm motility
54919	DNAAF5	HP:0012208	Immotile sperm
54919	DNAAF5	HP:0002878	Respiratory failure
54919	DNAAF5	HP:0012384	Rhinitis
54919	DNAAF5	HP:0000389	Chronic otitis media
54919	DNAAF5	HP:0006536	Airway obstruction
54919	DNAAF5	HP:0001696	Situs inversus totalis
54919	DNAAF5	HP:0000365	Hearing impairment
54919	DNAAF5	HP:0001669	Transposition of the great arteries
54919	DNAAF5	HP:0031456	Ectopic pregnancy
54919	DNAAF5	HP:0001627	Abnormal heart morphology
54919	DNAAF5	HP:0005301	Persistent left superior vena cava
54919	DNAAF5	HP:0000403	Recurrent otitis media
54919	DNAAF5	HP:0000405	Conductive hearing impairment
54919	DNAAF5	HP:0001719	Double outlet right ventricle
54919	DNAAF5	HP:0031565	Abdominal situs ambiguus
54919	DNAAF5	HP:0011109	Chronic sinusitis
54919	DNAAF5	HP:0011108	Recurrent sinusitis
54919	DNAAF5	HP:0001746	Asplenia
54919	DNAAF5	HP:0001748	Polysplenia
54919	DNAAF5	HP:0001742	Nasal congestion
54919	DNAAF5	HP:0005425	Recurrent sinopulmonary infections
54919	DNAAF5	HP:0011274	Recurrent mycobacterial infections
54919	DNAAF5	HP:0000510	Rod-cone dystrophy
54928	BPNT2	HP:0001156	Brachydactyly
54928	BPNT2	HP:0001234	Hitchhiker thumb
54928	BPNT2	HP:0001241	Capitate-hamate fusion
54928	BPNT2	HP:0001377	Limited elbow extension
54928	BPNT2	HP:0001385	Hip dysplasia
54928	BPNT2	HP:0000007	Autosomal recessive inheritance
54928	BPNT2	HP:0000160	Narrow mouth
54928	BPNT2	HP:0000175	Cleft palate
54928	BPNT2	HP:0005001	Recurrent patellar dislocation
54928	BPNT2	HP:0003577	Congenital onset
54928	BPNT2	HP:0004976	Knee dislocation
54928	BPNT2	HP:0009826	Limb undergrowth
54928	BPNT2	HP:0010049	Short metacarpal
54928	BPNT2	HP:0004322	Short stature
54928	BPNT2	HP:0009190	Irregular epiphyses of the metacarpals
54928	BPNT2	HP:0003048	Radial head subluxation
54928	BPNT2	HP:0003026	Short long bone
54928	BPNT2	HP:0004440	Coronal craniosynostosis
54928	BPNT2	HP:0003196	Short nose
54928	BPNT2	HP:0002857	Genu valgum
54928	BPNT2	HP:0012368	Flat face
54928	BPNT2	HP:0002945	Intervertebral space narrowing
54928	BPNT2	HP:0000365	Hearing impairment
54928	BPNT2	HP:0002999	Patellar dislocation
54928	BPNT2	HP:0000348	High forehead
54928	BPNT2	HP:0000347	Micrognathia
54928	BPNT2	HP:0001773	Short foot
54928	BPNT2	HP:0000431	Wide nasal bridge
54928	BPNT2	HP:0000520	Proptosis
54928	BPNT2	HP:0001831	Short toe
54931	TRMT10C	HP:0002490	Increased CSF lactate
54931	TRMT10C	HP:0001252	Hypotonia
54931	TRMT10C	HP:0000007	Autosomal recessive inheritance
54931	TRMT10C	HP:0001410	Decreased liver function
54931	TRMT10C	HP:0002020	Gastroesophageal reflux
54931	TRMT10C	HP:0003348	Hyperalaninemia
54931	TRMT10C	HP:0002033	Poor suck
54931	TRMT10C	HP:0002098	Respiratory distress
54931	TRMT10C	HP:0030948	Elevated gamma-glutamyltransferase level
54931	TRMT10C	HP:0002151	Increased serum lactate
54931	TRMT10C	HP:0002126	Polymicrogyria
54931	TRMT10C	HP:0011968	Feeding difficulties
54931	TRMT10C	HP:0003623	Neonatal onset
54931	TRMT10C	HP:0031956	Elevated circulating aspartate aminotransferase concentration
54931	TRMT10C	HP:0031964	Elevated circulating alanine aminotransferase concentration
54931	TRMT10C	HP:0003128	Lactic acidosis
54931	TRMT10C	HP:0032653	Elevated lactate:pyruvate ratio
54931	TRMT10C	HP:0001522	Death in infancy
54931	TRMT10C	HP:0001508	Failure to thrive
54931	TRMT10C	HP:0000407	Sensorineural hearing impairment
54931	TRMT10C	HP:0001712	Left ventricular hypertrophy
54936	ADPRS	HP:0002465	Poor speech
54936	ADPRS	HP:0001272	Cerebellar atrophy
54936	ADPRS	HP:0001250	Seizure
54936	ADPRS	HP:0001251	Ataxia
54936	ADPRS	HP:0001260	Dysarthria
54936	ADPRS	HP:0001263	Global developmental delay
54936	ADPRS	HP:0031165	Multifocal seizures
54936	ADPRS	HP:0001324	Muscle weakness
54936	ADPRS	HP:0000007	Autosomal recessive inheritance
54936	ADPRS	HP:0001310	Dysmetria
54936	ADPRS	HP:0001308	Tongue fasciculations
54936	ADPRS	HP:0002080	Intention tremor
54936	ADPRS	HP:0002093	Respiratory insufficiency
54936	ADPRS	HP:0002069	Bilateral tonic-clonic seizure
54936	ADPRS	HP:0002059	Cerebral atrophy
54936	ADPRS	HP:0003487	Babinski sign
54936	ADPRS	HP:0002121	Generalized non-motor (absence) seizure
54936	ADPRS	HP:0003447	Axonal loss
54936	ADPRS	HP:0002376	Developmental regression
54936	ADPRS	HP:0006855	Cerebellar vermis atrophy
54936	ADPRS	HP:0000639	Nystagmus
54936	ADPRS	HP:0000651	Diplopia
54936	ADPRS	HP:0000602	Ophthalmoplegia
54936	ADPRS	HP:0011463	Childhood onset
54936	ADPRS	HP:0000252	Microcephaly
54936	ADPRS	HP:0000407	Sensorineural hearing impairment
54936	ADPRS	HP:0000486	Strabismus
54936	ADPRS	HP:0001761	Pes cavus
54936	ADPRS	HP:0000508	Ptosis
54938	SARS2	HP:0001252	Hypotonia
54938	SARS2	HP:0001263	Global developmental delay
54938	SARS2	HP:0000093	Proteinuria
54938	SARS2	HP:0000007	Autosomal recessive inheritance
54938	SARS2	HP:0000127	Renal salt wasting
54938	SARS2	HP:0000103	Polyuria
54938	SARS2	HP:0005977	Hypochloremic metabolic alkalosis
54938	SARS2	HP:0002092	Pulmonary arterial hypertension
54938	SARS2	HP:0002093	Respiratory insufficiency
54938	SARS2	HP:0002151	Increased serum lactate
54938	SARS2	HP:0002149	Hyperuricemia
54938	SARS2	HP:0004719	Hyperechogenic kidneys
54938	SARS2	HP:0003593	Infantile onset
54938	SARS2	HP:0003554	Type 2 muscle fiber atrophy
54938	SARS2	HP:0011968	Feeding difficulties
54938	SARS2	HP:0012622	Chronic kidney disease
54938	SARS2	HP:0001903	Anemia
54938	SARS2	HP:0003138	Increased blood urea nitrogen
54938	SARS2	HP:0000819	Diabetes mellitus
54938	SARS2	HP:0002878	Respiratory failure
54938	SARS2	HP:0001508	Failure to thrive
54938	SARS2	HP:0002917	Hypomagnesemia
54938	SARS2	HP:0002902	Hyponatremia
54938	SARS2	HP:0001622	Premature birth
54938	SARS2	HP:0001882	Leukopenia
54938	SARS2	HP:0001873	Thrombocytopenia
54938	SARS2	HP:0001876	Pancytopenia
54941	RNF125	HP:0001270	Motor delay
54941	RNF125	HP:0001288	Gait disturbance
54941	RNF125	HP:0001279	Syncope
54941	RNF125	HP:0001250	Seizure
54941	RNF125	HP:0001252	Hypotonia
54941	RNF125	HP:0001249	Intellectual disability
54941	RNF125	HP:0001263	Global developmental delay
54941	RNF125	HP:0001388	Joint laxity
54941	RNF125	HP:0000006	Autosomal dominant inheritance
54941	RNF125	HP:0002650	Scoliosis
54941	RNF125	HP:0000158	Macroglossia
54941	RNF125	HP:0000154	Wide mouth
54941	RNF125	HP:0002020	Gastroesophageal reflux
54941	RNF125	HP:0002003	Large forehead
54941	RNF125	HP:0002120	Cerebral cortical atrophy
54941	RNF125	HP:0002119	Ventriculomegaly
54941	RNF125	HP:0002104	Apnea
54941	RNF125	HP:0002389	Cavum septum pellucidum
54941	RNF125	HP:0001097	Keratoconjunctivitis sicca
54941	RNF125	HP:0003623	Neonatal onset
54941	RNF125	HP:0002312	Clumsiness
54941	RNF125	HP:0001943	Hypoglycemia
54941	RNF125	HP:0000805	Enuresis
54941	RNF125	HP:0100021	Cerebral palsy
54941	RNF125	HP:0000739	Anxiety
54941	RNF125	HP:0000750	Delayed speech and language development
54941	RNF125	HP:0000712	Emotional lability
54941	RNF125	HP:0030880	Raynaud phenomenon
54941	RNF125	HP:0040216	Hypoinsulinemia
54941	RNF125	HP:0000998	Hypertrichosis
54941	RNF125	HP:0000938	Osteopenia
54941	RNF125	HP:0000256	Macrocephaly
54941	RNF125	HP:0000270	Delayed cranial suture closure
54941	RNF125	HP:0000238	Hydrocephalus
54941	RNF125	HP:0001528	Hemihypertrophy
54941	RNF125	HP:0006532	Recurrent pneumonia
54941	RNF125	HP:0000303	Mandibular prognathia
54941	RNF125	HP:0000463	Anteverted nares
54941	RNF125	HP:0011107	Recurrent aphthous stomatitis
54941	RNF125	HP:0000445	Wide nose
54941	RNF125	HP:0000506	Telecanthus
54941	RNF125	HP:0000574	Thick eyebrow
54949	SDHAF2	HP:0008629	Pulsatile tinnitus
54949	SDHAF2	HP:0025269	Panic attack
54949	SDHAF2	HP:0001293	Cranial nerve compression
54949	SDHAF2	HP:0002574	Episodic abdominal pain
54949	SDHAF2	HP:0000096	Glomerular sclerosis
54949	SDHAF2	HP:0000093	Proteinuria
54949	SDHAF2	HP:0002664	Neoplasm
54949	SDHAF2	HP:0001342	Cerebral hemorrhage
54949	SDHAF2	HP:0002668	Paraganglioma
54949	SDHAF2	HP:0001337	Tremor
54949	SDHAF2	HP:0000006	Autosomal dominant inheritance
54949	SDHAF2	HP:0002640	Hypertension associated with pheochromocytoma
54949	SDHAF2	HP:0031284	Flushing
54949	SDHAF2	HP:0002018	Nausea
54949	SDHAF2	HP:0003345	Elevated urinary norepinephrine
54949	SDHAF2	HP:0011703	Sinus tachycardia
54949	SDHAF2	HP:0010532	Paroxysmal vertigo
54949	SDHAF2	HP:0003574	Positive regitine blocking test
54949	SDHAF2	HP:0003581	Adult onset
54949	SDHAF2	HP:0003528	Elevated calcitonin
54949	SDHAF2	HP:0009711	Retinal capillary hemangioma
54949	SDHAF2	HP:0100749	Chest pain
54949	SDHAF2	HP:0011979	Elevated urinary dopamine
54949	SDHAF2	HP:0001069	Episodic hyperhidrosis
54949	SDHAF2	HP:0002331	Recurrent paroxysmal headache
54949	SDHAF2	HP:0001095	Hypertensive retinopathy
54949	SDHAF2	HP:0003639	Elevated urinary epinephrine
54949	SDHAF2	HP:0006824	Cranial nerve paralysis
54949	SDHAF2	HP:0005584	Renal cell carcinoma
54949	SDHAF2	HP:0001962	Palpitations
54949	SDHAF2	HP:0003001	Glomus jugular tumor
54949	SDHAF2	HP:0003072	Hypercalcemia
54949	SDHAF2	HP:0000740	Episodic paroxysmal anxiety
54949	SDHAF2	HP:0000790	Hematuria
54949	SDHAF2	HP:0000980	Pallor
54949	SDHAF2	HP:0030074	Chemodectoma
54949	SDHAF2	HP:0012222	Arachnoid hemangiomatosis
54949	SDHAF2	HP:0002886	Vagal paraganglioma
54949	SDHAF2	HP:0002864	Paraganglioma of head and neck
54949	SDHAF2	HP:0012378	Fatigue
54949	SDHAF2	HP:0001609	Hoarse voice
54949	SDHAF2	HP:0001605	Vocal cord paralysis
54949	SDHAF2	HP:0001618	Dysphonia
54949	SDHAF2	HP:0001686	Loss of voice
54949	SDHAF2	HP:0001635	Congestive heart failure
54949	SDHAF2	HP:0000405	Conductive hearing impairment
54949	SDHAF2	HP:0006748	Adrenal pheochromocytoma
54949	SDHAF2	HP:0006737	Extraadrenal pheochromocytoma
54949	SDHAF2	HP:0006715	Glomus tympanicum paraganglioma
54949	SDHAF2	HP:0000526	Aniridia
54949	SDHAF2	HP:0001824	Weight loss
54968	TMEM70	HP:0001298	Encephalopathy
54968	TMEM70	HP:0001290	Generalized hypotonia
54968	TMEM70	HP:0001271	Polyneuropathy
54968	TMEM70	HP:0001250	Seizure
54968	TMEM70	HP:0001252	Hypotonia
54968	TMEM70	HP:0001251	Ataxia
54968	TMEM70	HP:0002578	Gastroparesis
54968	TMEM70	HP:0001263	Global developmental delay
54968	TMEM70	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
54968	TMEM70	HP:0003819	Death in childhood
54968	TMEM70	HP:0003811	Neonatal death
54968	TMEM70	HP:0000077	Abnormality of the kidney
54968	TMEM70	HP:0001371	Flexion contracture
54968	TMEM70	HP:0000047	Hypospadias
54968	TMEM70	HP:0000023	Inguinal hernia
54968	TMEM70	HP:0000028	Cryptorchidism
54968	TMEM70	HP:0000007	Autosomal recessive inheritance
54968	TMEM70	HP:0001337	Tremor
54968	TMEM70	HP:0000154	Wide mouth
54968	TMEM70	HP:0003348	Hyperalaninemia
54968	TMEM70	HP:0002080	Intention tremor
54968	TMEM70	HP:0002093	Respiratory insufficiency
54968	TMEM70	HP:0002151	Increased serum lactate
54968	TMEM70	HP:0002120	Cerebral cortical atrophy
54968	TMEM70	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
54968	TMEM70	HP:0100490	Camptodactyly of finger
54968	TMEM70	HP:0003577	Congenital onset
54968	TMEM70	HP:0002240	Hepatomegaly
54968	TMEM70	HP:0003535	3-Methylglutaconic aciduria
54968	TMEM70	HP:0002383	Infectious encephalitis
54968	TMEM70	HP:0002342	Intellectual disability, moderate
54968	TMEM70	HP:0002352	Leukoencephalopathy
54968	TMEM70	HP:0011343	Moderate global developmental delay
54968	TMEM70	HP:0001987	Hyperammonemia
54968	TMEM70	HP:0003128	Lactic acidosis
54968	TMEM70	HP:0000822	Hypertension
54968	TMEM70	HP:0011675	Arrhythmia
54968	TMEM70	HP:0000278	Retrognathia
54968	TMEM70	HP:0000252	Microcephaly
54968	TMEM70	HP:0002878	Respiratory failure
54968	TMEM70	HP:0001562	Oligohydramnios
54968	TMEM70	HP:0001522	Death in infancy
54968	TMEM70	HP:0001537	Umbilical hernia
54968	TMEM70	HP:0001508	Failure to thrive
54968	TMEM70	HP:0001518	Small for gestational age
54968	TMEM70	HP:0001511	Intrauterine growth retardation
54968	TMEM70	HP:0001510	Growth delay
54968	TMEM70	HP:0012368	Flat face
54968	TMEM70	HP:0000369	Low-set ears
54968	TMEM70	HP:0000343	Long philtrum
54968	TMEM70	HP:0001646	Abnormal aortic valve morphology
54968	TMEM70	HP:0000322	Short philtrum
54968	TMEM70	HP:0001622	Premature birth
54968	TMEM70	HP:0001641	Abnormal pulmonary valve morphology
54968	TMEM70	HP:0000308	Microretrognathia
54968	TMEM70	HP:0001639	Hypertrophic cardiomyopathy
54968	TMEM70	HP:0001635	Congestive heart failure
54968	TMEM70	HP:0000463	Anteverted nares
54968	TMEM70	HP:0000431	Wide nasal bridge
54968	TMEM70	HP:0005469	Flat occiput
54968	TMEM70	HP:0000518	Cataract
54970	TTC12	HP:0025177	Peribronchovascular interstitial thickening
54970	TTC12	HP:0002566	Intestinal malrotation
54970	TTC12	HP:0001217	Clubbing
54970	TTC12	HP:0000007	Autosomal recessive inheritance
54970	TTC12	HP:0002643	Neonatal respiratory distress
54970	TTC12	HP:0000119	Abnormality of the genitourinary system
54970	TTC12	HP:0032543	Lithoptysis
54970	TTC12	HP:0031245	Productive cough
54970	TTC12	HP:0002011	Morphological central nervous system abnormality
54970	TTC12	HP:0100582	Nasal polyposis
54970	TTC12	HP:0002119	Ventriculomegaly
54970	TTC12	HP:0002110	Bronchiectasis
54970	TTC12	HP:0008222	Female infertility
54970	TTC12	HP:0002257	Chronic rhinitis
54970	TTC12	HP:0002205	Recurrent respiratory infections
54970	TTC12	HP:0100750	Atelectasis
54970	TTC12	HP:0032016	Abnormal sputum
54970	TTC12	HP:0011947	Respiratory tract infection
54970	TTC12	HP:0010772	Anomalous pulmonary venous return
54970	TTC12	HP:0030680	Abnormality of cardiovascular system morphology
54970	TTC12	HP:0000750	Delayed speech and language development
54970	TTC12	HP:0000924	Abnormality of the skeletal system
54970	TTC12	HP:0011539	Atrial situs ambiguous
54970	TTC12	HP:0011535	Abnormal atrial arrangement
54970	TTC12	HP:0030828	Wheezing
54970	TTC12	HP:0003251	Male infertility
54970	TTC12	HP:0011617	Pulmonary situs ambiguus
54970	TTC12	HP:0025576	Abnormal inferior vena cava morphology
54970	TTC12	HP:0012259	Absent inner and outer dynein arms
54970	TTC12	HP:0012263	Immotile cilia
54970	TTC12	HP:0000238	Hydrocephalus
54970	TTC12	HP:0012206	Abnormal sperm motility
54970	TTC12	HP:0002878	Respiratory failure
54970	TTC12	HP:0000389	Chronic otitis media
54970	TTC12	HP:0006536	Airway obstruction
54970	TTC12	HP:0001696	Situs inversus totalis
54970	TTC12	HP:0000365	Hearing impairment
54970	TTC12	HP:0001669	Transposition of the great arteries
54970	TTC12	HP:0031456	Ectopic pregnancy
54970	TTC12	HP:0001627	Abnormal heart morphology
54970	TTC12	HP:0005301	Persistent left superior vena cava
54970	TTC12	HP:0000403	Recurrent otitis media
54970	TTC12	HP:0000405	Conductive hearing impairment
54970	TTC12	HP:0001719	Double outlet right ventricle
54970	TTC12	HP:0011109	Chronic sinusitis
54970	TTC12	HP:0001746	Asplenia
54970	TTC12	HP:0001748	Polysplenia
54970	TTC12	HP:0001742	Nasal congestion
54970	TTC12	HP:0005425	Recurrent sinopulmonary infections
54970	TTC12	HP:0011274	Recurrent mycobacterial infections
54970	TTC12	HP:0000510	Rod-cone dystrophy
54974	THG1L	HP:0007256	Abnormal pyramidal sign
54974	THG1L	HP:0001270	Motor delay
54974	THG1L	HP:0001256	Intellectual disability, mild
54974	THG1L	HP:0001260	Dysarthria
54974	THG1L	HP:0000007	Autosomal recessive inheritance
54974	THG1L	HP:0001320	Cerebellar vermis hypoplasia
54974	THG1L	HP:0002066	Gait ataxia
54974	THG1L	HP:0007010	Poor fine motor coordination
54974	THG1L	HP:0000648	Optic atrophy
54974	THG1L	HP:0004322	Short stature
54974	THG1L	HP:0007772	Impaired smooth pursuit
54974	THG1L	HP:0030147	Truncal titubation
54974	THG1L	HP:0007979	Gaze-evoked horizontal nystagmus
54974	THG1L	HP:0000486	Strabismus
54974	THG1L	HP:0000545	Myopia
54977	SLC25A38	HP:0032231	Hypochromia
54977	SLC25A38	HP:0000007	Autosomal recessive inheritance
54977	SLC25A38	HP:0003593	Infantile onset
54977	SLC25A38	HP:0025066	Decreased mean corpuscular volume
54977	SLC25A38	HP:0001924	Sideroblastic anemia
54977	SLC25A38	HP:0001903	Anemia
54977	SLC25A38	HP:0003281	Increased circulating ferritin concentration
54977	SLC25A38	HP:0012463	Elevated transferrin saturation
54982	CLN6	HP:0001268	Mental deterioration
54982	CLN6	HP:0001250	Seizure
54982	CLN6	HP:0001251	Ataxia
54982	CLN6	HP:0008765	Auditory hallucinations
54982	CLN6	HP:0007359	Focal-onset seizure
54982	CLN6	HP:0000007	Autosomal recessive inheritance
54982	CLN6	HP:0001336	Myoclonus
54982	CLN6	HP:0001311	Abnormal nervous system electrophysiology
54982	CLN6	HP:0002069	Bilateral tonic-clonic seizure
54982	CLN6	HP:0002074	Increased neuronal autofluorescent lipopigment
54982	CLN6	HP:0002071	Abnormality of extrapyramidal motor function
54982	CLN6	HP:0002059	Cerebral atrophy
54982	CLN6	HP:0003596	Middle age onset
54982	CLN6	HP:0003584	Late onset
54982	CLN6	HP:0003581	Adult onset
54982	CLN6	HP:0002367	Visual hallucinations
54982	CLN6	HP:0002352	Leukoencephalopathy
54982	CLN6	HP:0002333	Motor deterioration
54982	CLN6	HP:0003657	Granular osmiophilic deposits (GROD) in cells
54982	CLN6	HP:0000716	Depression
54982	CLN6	HP:0000726	Dementia
54982	CLN6	HP:0011462	Young adult onset
54982	CLN6	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
54982	CLN6	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
54982	CLN6	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
54982	CLN6	HP:0031475	Status epilepticus without prominent motor symptoms
54982	CLN6	HP:0000529	Progressive visual loss
54982	CLN6	HP:0000546	Retinal degeneration
55005	RMND1	HP:0002490	Increased CSF lactate
55005	RMND1	HP:0001290	Generalized hypotonia
55005	RMND1	HP:0001284	Areflexia
55005	RMND1	HP:0001254	Lethargy
55005	RMND1	HP:0001250	Seizure
55005	RMND1	HP:0001265	Hyporeflexia
55005	RMND1	HP:0001263	Global developmental delay
55005	RMND1	HP:0003828	Variable expressivity
55005	RMND1	HP:0000089	Renal hypoplasia
55005	RMND1	HP:0000083	Renal insufficiency
55005	RMND1	HP:0001397	Hepatic steatosis
55005	RMND1	HP:0001344	Absent speech
55005	RMND1	HP:0000007	Autosomal recessive inheritance
55005	RMND1	HP:0001336	Myoclonus
55005	RMND1	HP:0001308	Tongue fasciculations
55005	RMND1	HP:0001302	Pachygyria
55005	RMND1	HP:0000110	Renal dysplasia
55005	RMND1	HP:0000107	Renal cyst
55005	RMND1	HP:0001410	Decreased liver function
55005	RMND1	HP:0002079	Hypoplasia of the corpus callosum
55005	RMND1	HP:0002151	Increased serum lactate
55005	RMND1	HP:0002120	Cerebral cortical atrophy
55005	RMND1	HP:0003429	CNS hypomyelination
55005	RMND1	HP:0003577	Congenital onset
55005	RMND1	HP:0002240	Hepatomegaly
55005	RMND1	HP:0011968	Feeding difficulties
55005	RMND1	HP:0009830	Peripheral neuropathy
55005	RMND1	HP:0006829	Severe muscular hypotonia
55005	RMND1	HP:0001947	Renal tubular acidosis
55005	RMND1	HP:0003198	Myopathy
55005	RMND1	HP:0003128	Lactic acidosis
55005	RMND1	HP:0001522	Death in infancy
55005	RMND1	HP:0000365	Hearing impairment
55005	RMND1	HP:0001638	Cardiomyopathy
55005	RMND1	HP:0012448	Delayed myelination
55012	PPP2R3C	HP:0001169	Broad palm
55012	PPP2R3C	HP:0001274	Agenesis of corpus callosum
55012	PPP2R3C	HP:0002553	Highly arched eyebrow
55012	PPP2R3C	HP:0000060	Clitoral hypoplasia
55012	PPP2R3C	HP:0000059	Hypoplastic labia majora
55012	PPP2R3C	HP:0001377	Limited elbow extension
55012	PPP2R3C	HP:0001385	Hip dysplasia
55012	PPP2R3C	HP:0000013	Hypoplasia of the uterus
55012	PPP2R3C	HP:0000007	Autosomal recessive inheritance
55012	PPP2R3C	HP:0000006	Autosomal dominant inheritance
55012	PPP2R3C	HP:0002650	Scoliosis
55012	PPP2R3C	HP:0000122	Unilateral renal agenesis
55012	PPP2R3C	HP:0000133	Gonadal dysgenesis
55012	PPP2R3C	HP:0002750	Delayed skeletal maturation
55012	PPP2R3C	HP:0002023	Anal atresia
55012	PPP2R3C	HP:0002021	Pyloric stenosis
55012	PPP2R3C	HP:0009611	Bifid distal phalanx of the thumb
55012	PPP2R3C	HP:0010554	Cutaneous finger syndactyly
55012	PPP2R3C	HP:0008232	Elevated circulating follicle stimulating hormone level
55012	PPP2R3C	HP:0003577	Congenital onset
55012	PPP2R3C	HP:0002236	Frontal upsweep of hair
55012	PPP2R3C	HP:0002221	Absent axillary hair
55012	PPP2R3C	HP:0002225	Sparse pubic hair
55012	PPP2R3C	HP:0011969	Elevated circulating luteinizing hormone level
55012	PPP2R3C	HP:0004279	Short palm
55012	PPP2R3C	HP:0000668	Hypodontia
55012	PPP2R3C	HP:0004322	Short stature
55012	PPP2R3C	HP:0011462	Young adult onset
55012	PPP2R3C	HP:0012864	Abnormal sperm morphology
55012	PPP2R3C	HP:0045075	Sparse eyebrow
55012	PPP2R3C	HP:0003251	Male infertility
55012	PPP2R3C	HP:0000958	Dry skin
55012	PPP2R3C	HP:0000954	Single transverse palmar crease
55012	PPP2R3C	HP:0040189	Scaling skin
55012	PPP2R3C	HP:0000286	Epicanthus
55012	PPP2R3C	HP:0000233	Thin vermilion border
55012	PPP2R3C	HP:0001540	Diastasis recti
55012	PPP2R3C	HP:0001539	Omphalocele
55012	PPP2R3C	HP:0001518	Small for gestational age
55012	PPP2R3C	HP:0012368	Flat face
55012	PPP2R3C	HP:0000396	Overfolded helix
55012	PPP2R3C	HP:0007892	Hypoplasia of the lacrimal punctum
55012	PPP2R3C	HP:0000358	Posteriorly rotated ears
55012	PPP2R3C	HP:0000369	Low-set ears
55012	PPP2R3C	HP:0000341	Narrow forehead
55012	PPP2R3C	HP:0000343	Long philtrum
55012	PPP2R3C	HP:0000319	Smooth philtrum
55012	PPP2R3C	HP:0000407	Sensorineural hearing impairment
55012	PPP2R3C	HP:0000444	Convex nasal ridge
55012	PPP2R3C	HP:0001747	Accessory spleen
55012	PPP2R3C	HP:0000430	Underdeveloped nasal alae
55012	PPP2R3C	HP:0000510	Rod-cone dystrophy
55012	PPP2R3C	HP:0001853	Bifid distal phalanx of toe
55023	PHIP	HP:0001182	Tapered finger
55023	PHIP	HP:0001288	Gait disturbance
55023	PHIP	HP:0001250	Seizure
55023	PHIP	HP:0001252	Hypotonia
55023	PHIP	HP:0001249	Intellectual disability
55023	PHIP	HP:0001263	Global developmental delay
55023	PHIP	HP:0008751	Laryngeal cleft
55023	PHIP	HP:0001385	Hip dysplasia
55023	PHIP	HP:0001382	Joint hypermobility
55023	PHIP	HP:0000028	Cryptorchidism
55023	PHIP	HP:0008872	Feeding difficulties in infancy
55023	PHIP	HP:0000006	Autosomal dominant inheritance
55023	PHIP	HP:0001319	Neonatal hypotonia
55023	PHIP	HP:0002788	Recurrent upper respiratory tract infections
55023	PHIP	HP:0002761	Generalized joint laxity
55023	PHIP	HP:0002020	Gastroesophageal reflux
55023	PHIP	HP:0002019	Constipation
55023	PHIP	HP:0004691	2-3 toe syndactyly
55023	PHIP	HP:0003593	Infantile onset
55023	PHIP	HP:0100710	Impulsivity
55023	PHIP	HP:0009748	Large earlobe
55023	PHIP	HP:0007018	Attention deficit hyperactivity disorder
55023	PHIP	HP:0011968	Feeding difficulties
55023	PHIP	HP:0002360	Sleep disturbance
55023	PHIP	HP:0002378	Hand tremor
55023	PHIP	HP:0004209	Clinodactyly of the 5th finger
55023	PHIP	HP:0000639	Nystagmus
55023	PHIP	HP:0000664	Synophrys
55023	PHIP	HP:0004324	Increased body weight
55023	PHIP	HP:0000739	Anxiety
55023	PHIP	HP:0000718	Aggressive behavior
55023	PHIP	HP:0012758	Neurodevelopmental delay
55023	PHIP	HP:0003196	Short nose
55023	PHIP	HP:0000957	Cafe-au-lait spot
55023	PHIP	HP:0000286	Epicanthus
55023	PHIP	HP:0000218	High palate
55023	PHIP	HP:0000233	Thin vermilion border
55023	PHIP	HP:0001513	Obesity
55023	PHIP	HP:0012378	Fatigue
55023	PHIP	HP:0007874	Almond-shaped palpebral fissure
55023	PHIP	HP:0000343	Long philtrum
55023	PHIP	HP:0000348	High forehead
55023	PHIP	HP:0000347	Micrognathia
55023	PHIP	HP:0000316	Hypertelorism
55023	PHIP	HP:0000311	Round face
55023	PHIP	HP:0000322	Short philtrum
55023	PHIP	HP:0000403	Recurrent otitis media
55023	PHIP	HP:0000400	Macrotia
55023	PHIP	HP:0000486	Strabismus
55023	PHIP	HP:0000490	Deeply set eye
55023	PHIP	HP:0000463	Anteverted nares
55023	PHIP	HP:0000455	Broad nasal tip
55023	PHIP	HP:0012420	Meconium stained amniotic fluid
55023	PHIP	HP:0000508	Ptosis
55023	PHIP	HP:0000582	Upslanted palpebral fissure
55023	PHIP	HP:0000574	Thick eyebrow
55023	PHIP	HP:0000540	Hypermetropia
55023	PHIP	HP:0000539	Abnormality of refraction
55027	HEATR3	HP:0001177	Preaxial hand polydactyly
55027	HEATR3	HP:0001182	Tapered finger
55027	HEATR3	HP:0001156	Brachydactyly
55027	HEATR3	HP:0003764	Nevus
55027	HEATR3	HP:0001256	Intellectual disability, mild
55027	HEATR3	HP:0001252	Hypotonia
55027	HEATR3	HP:0001385	Hip dysplasia
55027	HEATR3	HP:0000007	Autosomal recessive inheritance
55027	HEATR3	HP:0002669	Osteosarcoma
55027	HEATR3	HP:0000160	Narrow mouth
55027	HEATR3	HP:0012133	Erythroid hypoplasia
55027	HEATR3	HP:0007687	Unilateral ptosis
55027	HEATR3	HP:0002028	Chronic diarrhea
55027	HEATR3	HP:0002208	Coarse hair
55027	HEATR3	HP:0001903	Anemia
55027	HEATR3	HP:0000664	Synophrys
55027	HEATR3	HP:0004322	Short stature
55027	HEATR3	HP:0040023	Clinodactyly of the thumb
55027	HEATR3	HP:0000965	Cutis marmorata
55027	HEATR3	HP:0000293	Full cheeks
55027	HEATR3	HP:0000252	Microcephaly
55027	HEATR3	HP:0002857	Genu valgum
55027	HEATR3	HP:0001513	Obesity
55027	HEATR3	HP:0000369	Low-set ears
55027	HEATR3	HP:0001684	Secundum atrial septal defect
55027	HEATR3	HP:0000349	Widow's peak
55027	HEATR3	HP:0000347	Micrognathia
55027	HEATR3	HP:0000316	Hypertelorism
55027	HEATR3	HP:0001659	Aortic regurgitation
55027	HEATR3	HP:0002967	Cubitus valgus
55027	HEATR3	HP:0000494	Downslanted palpebral fissures
55027	HEATR3	HP:0001763	Pes planus
55027	HEATR3	HP:0000411	Protruding ear
55027	HEATR3	HP:0001852	Sandal gap
55027	HEATR3	HP:0001822	Hallux valgus
55027	HEATR3	HP:0001831	Short toe
55027	HEATR3	HP:0011228	Horizontal eyebrow
55027	HEATR3	HP:0001873	Thrombocytopenia
55033	FKBP14	HP:0002421	Poor head control
55033	FKBP14	HP:0001270	Motor delay
55033	FKBP14	HP:0001252	Hypotonia
55033	FKBP14	HP:0002515	Waddling gait
55033	FKBP14	HP:0003803	Type 1 muscle fiber predominance
55033	FKBP14	HP:0001382	Joint hypermobility
55033	FKBP14	HP:0000023	Inguinal hernia
55033	FKBP14	HP:0000015	Bladder diverticulum
55033	FKBP14	HP:0007502	Follicular hyperkeratosis
55033	FKBP14	HP:0001324	Muscle weakness
55033	FKBP14	HP:0000007	Autosomal recessive inheritance
55033	FKBP14	HP:0001319	Neonatal hypotonia
55033	FKBP14	HP:0000185	Cleft soft palate
55033	FKBP14	HP:0002751	Kyphoscoliosis
55033	FKBP14	HP:0003388	Easy fatigability
55033	FKBP14	HP:0003467	Atlantoaxial instability
55033	FKBP14	HP:0100790	Hernia
55033	FKBP14	HP:0011968	Feeding difficulties
55033	FKBP14	HP:0025019	Arterial rupture
55033	FKBP14	HP:0001075	Atrophic scars
55033	FKBP14	HP:0006829	Severe muscular hypotonia
55033	FKBP14	HP:0000601	Hypotelorism
55033	FKBP14	HP:0031936	Delayed ability to walk
55033	FKBP14	HP:0011461	Fetal onset
55033	FKBP14	HP:0003198	Myopathy
55033	FKBP14	HP:0003236	Elevated circulating creatine kinase concentration
55033	FKBP14	HP:0003202	Skeletal muscle atrophy
55033	FKBP14	HP:0000978	Bruising susceptibility
55033	FKBP14	HP:0000977	Soft skin
55033	FKBP14	HP:0000974	Hyperextensible skin
55033	FKBP14	HP:0000973	Cutis laxa
55033	FKBP14	HP:0034361	Redundant umbilical skin
55033	FKBP14	HP:0000938	Osteopenia
55033	FKBP14	HP:0000286	Epicanthus
55033	FKBP14	HP:0001561	Polyhydramnios
55033	FKBP14	HP:0001558	Decreased fetal movement
55033	FKBP14	HP:0001537	Umbilical hernia
55033	FKBP14	HP:0001519	Disproportionate tall stature
55033	FKBP14	HP:0012372	Abnormal eye morphology
55033	FKBP14	HP:0005180	Tricuspid regurgitation
55033	FKBP14	HP:0000340	Sloping forehead
55033	FKBP14	HP:0001643	Patent ductus arteriosus
55033	FKBP14	HP:0001653	Mitral regurgitation
55033	FKBP14	HP:0031649	Aortic rupture
55033	FKBP14	HP:0000407	Sensorineural hearing impairment
55033	FKBP14	HP:0000405	Conductive hearing impairment
55033	FKBP14	HP:0000482	Microcornea
55033	FKBP14	HP:0001763	Pes planus
55033	FKBP14	HP:0000410	Mixed hearing impairment
55033	FKBP14	HP:0001762	Talipes equinovarus
55033	FKBP14	HP:0001757	High-frequency sensorineural hearing impairment
55033	FKBP14	HP:0000592	Blue sclerae
55033	FKBP14	HP:0000545	Myopia
55034	MOCOS	HP:0010934	Xanthinuria
55034	MOCOS	HP:0010933	Hyperxanthinemia
55034	MOCOS	HP:0000083	Renal insufficiency
55034	MOCOS	HP:0000007	Autosomal recessive inheritance
55034	MOCOS	HP:0003326	Myalgia
55034	MOCOS	HP:0011814	Increased urinary hypoxanthine
55034	MOCOS	HP:0003596	Middle age onset
55034	MOCOS	HP:0003537	Hypouricemia
55034	MOCOS	HP:0003621	Juvenile onset
55034	MOCOS	HP:0011463	Childhood onset
55034	MOCOS	HP:0000787	Nephrolithiasis
55034	MOCOS	HP:0034333	Increased circulating hypoxanthine concentration
55036	CCDC40	HP:0025177	Peribronchovascular interstitial thickening
55036	CCDC40	HP:0002566	Intestinal malrotation
55036	CCDC40	HP:0001217	Clubbing
55036	CCDC40	HP:0000007	Autosomal recessive inheritance
55036	CCDC40	HP:0002643	Neonatal respiratory distress
55036	CCDC40	HP:0000119	Abnormality of the genitourinary system
55036	CCDC40	HP:0032543	Lithoptysis
55036	CCDC40	HP:0031245	Productive cough
55036	CCDC40	HP:0002011	Morphological central nervous system abnormality
55036	CCDC40	HP:0100582	Nasal polyposis
55036	CCDC40	HP:0002119	Ventriculomegaly
55036	CCDC40	HP:0002110	Bronchiectasis
55036	CCDC40	HP:0008222	Female infertility
55036	CCDC40	HP:0002257	Chronic rhinitis
55036	CCDC40	HP:0002205	Recurrent respiratory infections
55036	CCDC40	HP:0100750	Atelectasis
55036	CCDC40	HP:0032016	Abnormal sputum
55036	CCDC40	HP:0011947	Respiratory tract infection
55036	CCDC40	HP:0010772	Anomalous pulmonary venous return
55036	CCDC40	HP:0030680	Abnormality of cardiovascular system morphology
55036	CCDC40	HP:0012735	Cough
55036	CCDC40	HP:0000750	Delayed speech and language development
55036	CCDC40	HP:0000789	Infertility
55036	CCDC40	HP:0000924	Abnormality of the skeletal system
55036	CCDC40	HP:0004469	Chronic bronchitis
55036	CCDC40	HP:0011539	Atrial situs ambiguous
55036	CCDC40	HP:0011535	Abnormal atrial arrangement
55036	CCDC40	HP:0030828	Wheezing
55036	CCDC40	HP:0003251	Male infertility
55036	CCDC40	HP:0011617	Pulmonary situs ambiguus
55036	CCDC40	HP:0025576	Abnormal inferior vena cava morphology
55036	CCDC40	HP:0012258	Abnormal axonemal organization of respiratory motile cilia
55036	CCDC40	HP:0012265	Ciliary dyskinesia
55036	CCDC40	HP:0031417	Rhinorrhea
55036	CCDC40	HP:0000238	Hydrocephalus
55036	CCDC40	HP:0012206	Abnormal sperm motility
55036	CCDC40	HP:0012208	Immotile sperm
55036	CCDC40	HP:0002878	Respiratory failure
55036	CCDC40	HP:0000389	Chronic otitis media
55036	CCDC40	HP:0006532	Recurrent pneumonia
55036	CCDC40	HP:0006536	Airway obstruction
55036	CCDC40	HP:0001696	Situs inversus totalis
55036	CCDC40	HP:0000365	Hearing impairment
55036	CCDC40	HP:0001669	Transposition of the great arteries
55036	CCDC40	HP:0031456	Ectopic pregnancy
55036	CCDC40	HP:0001627	Abnormal heart morphology
55036	CCDC40	HP:0005301	Persistent left superior vena cava
55036	CCDC40	HP:0000403	Recurrent otitis media
55036	CCDC40	HP:0000405	Conductive hearing impairment
55036	CCDC40	HP:0001719	Double outlet right ventricle
55036	CCDC40	HP:0011109	Chronic sinusitis
55036	CCDC40	HP:0001746	Asplenia
55036	CCDC40	HP:0001748	Polysplenia
55036	CCDC40	HP:0001742	Nasal congestion
55036	CCDC40	HP:0005425	Recurrent sinopulmonary infections
55036	CCDC40	HP:0011274	Recurrent mycobacterial infections
55036	CCDC40	HP:0000510	Rod-cone dystrophy
55037	PTCD3	HP:0000007	Autosomal recessive inheritance
55037	PTCD3	HP:0001336	Myoclonus
55037	PTCD3	HP:0002643	Neonatal respiratory distress
55037	PTCD3	HP:0002063	Rigidity
55037	PTCD3	HP:0002059	Cerebral atrophy
55037	PTCD3	HP:0040288	Nasogastric tube feeding
55037	PTCD3	HP:0011923	Decreased activity of mitochondrial complex I
55037	PTCD3	HP:0011951	Aspiration pneumonia
55037	PTCD3	HP:0003510	Severe short stature
55037	PTCD3	HP:0002376	Developmental regression
55037	PTCD3	HP:0000639	Nystagmus
55037	PTCD3	HP:0000648	Optic atrophy
55037	PTCD3	HP:0012692	Focal T2 hyperintense thalamic lesion
55037	PTCD3	HP:0011410	Caesarian section
55037	PTCD3	HP:0002878	Respiratory failure
55037	PTCD3	HP:0001518	Small for gestational age
55037	PTCD3	HP:0001511	Intrauterine growth retardation
55037	PTCD3	HP:0001510	Growth delay
55037	PTCD3	HP:0000365	Hearing impairment
55065	SLC52A1	HP:0001254	Lethargy
55065	SLC52A1	HP:0001252	Hypotonia
55065	SLC52A1	HP:0000006	Autosomal dominant inheritance
55065	SLC52A1	HP:0002033	Poor suck
55065	SLC52A1	HP:0002045	Hypothermia
55065	SLC52A1	HP:0100504	Low levels of vitamin B2
55065	SLC52A1	HP:0001943	Hypoglycemia
55065	SLC52A1	HP:0001942	Metabolic acidosis
55065	SLC52A1	HP:0003128	Lactic acidosis
55065	SLC52A1	HP:0003215	Dicarboxylic aciduria
55065	SLC52A1	HP:0045045	Elevated circulating acylcarnitine concentration
55074	OXR1	HP:0001290	Generalized hypotonia
55074	OXR1	HP:0001252	Hypotonia
55074	OXR1	HP:0001251	Ataxia
55074	OXR1	HP:0000007	Autosomal recessive inheritance
55074	OXR1	HP:0001337	Tremor
55074	OXR1	HP:0001321	Cerebellar hypoplasia
55074	OXR1	HP:0000639	Nystagmus
55081	IFT57	HP:0001156	Brachydactyly
55081	IFT57	HP:0009882	Short distal phalanx of finger
55081	IFT57	HP:0000020	Urinary incontinence
55081	IFT57	HP:0000007	Autosomal recessive inheritance
55081	IFT57	HP:0000191	Accessory oral frenulum
55081	IFT57	HP:0410030	Cleft lip
55081	IFT57	HP:0002750	Delayed skeletal maturation
55081	IFT57	HP:0000699	Diastema
55081	IFT57	HP:0004322	Short stature
55081	IFT57	HP:0000891	Cervical ribs
55081	IFT57	HP:0100259	Postaxial polydactyly
55081	IFT57	HP:0100258	Preaxial polydactyly
55081	IFT57	HP:0000954	Single transverse palmar crease
55081	IFT57	HP:0005819	Short middle phalanx of finger
55081	IFT57	HP:0002857	Genu valgum
55081	IFT57	HP:0000350	Small forehead
55081	IFT57	HP:0000321	Square face
55081	IFT57	HP:0000322	Short philtrum
55081	IFT57	HP:0000431	Wide nasal bridge
55081	IFT57	HP:0000426	Prominent nasal bridge
55081	IFT57	HP:0001852	Sandal gap
55081	IFT57	HP:0000582	Upslanted palpebral fissure
55084	SOBP	HP:0002465	Poor speech
55084	SOBP	HP:0010864	Intellectual disability, severe
55084	SOBP	HP:0001263	Global developmental delay
55084	SOBP	HP:0001388	Joint laxity
55084	SOBP	HP:0000007	Autosomal recessive inheritance
55084	SOBP	HP:0003593	Infantile onset
55084	SOBP	HP:0430028	Hyperplasia of the maxilla
55084	SOBP	HP:0010807	Open bite
55084	SOBP	HP:0000646	Amblyopia
55084	SOBP	HP:0000678	Dental crowding
55084	SOBP	HP:0000736	Short attention span
55084	SOBP	HP:0000750	Delayed speech and language development
55084	SOBP	HP:0000709	Psychosis
55084	SOBP	HP:0000486	Strabismus
55084	SOBP	HP:0000505	Visual impairment
55084	SOBP	HP:0000565	Esotropia
55084	SOBP	HP:0000540	Hypermetropia
55107	ANO1	HP:0002587	Projectile vomiting
55107	ANO1	HP:0001252	Hypotonia
55107	ANO1	HP:0000007	Autosomal recessive inheritance
55107	ANO1	HP:0002014	Diarrhea
55107	ANO1	HP:0003577	Congenital onset
55107	ANO1	HP:0011968	Feeding difficulties
55107	ANO1	HP:0003623	Neonatal onset
55107	ANO1	HP:0030897	Decreased intestinal transit time
55107	ANO1	HP:0003270	Abdominal distention
55107	ANO1	HP:0008081	Pes valgus
55107	ANO1	HP:0000289	Broad philtrum
55107	ANO1	HP:0000218	High palate
55107	ANO1	HP:0001561	Polyhydramnios
55107	ANO1	HP:0001508	Failure to thrive
55107	ANO1	HP:0000369	Low-set ears
55107	ANO1	HP:0000518	Cataract
55107	ANO1	HP:0001824	Weight loss
55109	AGGF1	HP:0001249	Intellectual disability
55109	AGGF1	HP:0000098	Tall stature
55109	AGGF1	HP:0000140	Abnormality of the menstrual cycle
55109	AGGF1	HP:0100560	Upper limb asymmetry
55109	AGGF1	HP:0002093	Respiratory insufficiency
55109	AGGF1	HP:0100559	Lower limb asymmetry
55109	AGGF1	HP:0011842	Abnormal skeletal morphology
55109	AGGF1	HP:0002240	Hepatomegaly
55109	AGGF1	HP:0002239	Gastrointestinal hemorrhage
55109	AGGF1	HP:0002204	Pulmonary embolism
55109	AGGF1	HP:0100784	Peripheral arteriovenous fistula
55109	AGGF1	HP:0100724	Hypercoagulability
55109	AGGF1	HP:0001028	Hemangioma
55109	AGGF1	HP:0100658	Cellulitis
55109	AGGF1	HP:0004936	Venous thrombosis
55109	AGGF1	HP:0001935	Microcytic anemia
55109	AGGF1	HP:0003010	Prolonged bleeding time
55109	AGGF1	HP:0000790	Hematuria
55109	AGGF1	HP:0004414	Abnormality of the pulmonary artery
55109	AGGF1	HP:0000929	Abnormal skull morphology
55109	AGGF1	HP:0000969	Edema
55109	AGGF1	HP:0000256	Macrocephaly
55109	AGGF1	HP:0000252	Microcephaly
55109	AGGF1	HP:0001541	Ascites
55109	AGGF1	HP:0011029	Internal hemorrhage
55109	AGGF1	HP:0001643	Patent ductus arteriosus
55109	AGGF1	HP:0001635	Congestive heart failure
55109	AGGF1	HP:0001631	Atrial septal defect
55109	AGGF1	HP:0001702	Abnormal tricuspid valve morphology
55109	AGGF1	HP:0005293	Venous insufficiency
55109	AGGF1	HP:0001789	Hydrops fetalis
55112	DYNC2I1	HP:0001177	Preaxial hand polydactyly
55112	DYNC2I1	HP:0001156	Brachydactyly
55112	DYNC2I1	HP:0001162	Postaxial hand polydactyly
55112	DYNC2I1	HP:0001159	Syndactyly
55112	DYNC2I1	HP:0003762	Uterus didelphys
55112	DYNC2I1	HP:0001274	Agenesis of corpus callosum
55112	DYNC2I1	HP:0008736	Hypoplasia of penis
55112	DYNC2I1	HP:0008716	Urethrovaginal fistula
55112	DYNC2I1	HP:0000089	Renal hypoplasia
55112	DYNC2I1	HP:0000083	Renal insufficiency
55112	DYNC2I1	HP:0000090	Nephronophthisis
55112	DYNC2I1	HP:0000062	Ambiguous genitalia
55112	DYNC2I1	HP:0001392	Abnormality of the liver
55112	DYNC2I1	HP:0000028	Cryptorchidism
55112	DYNC2I1	HP:0008873	Disproportionate short-limb short stature
55112	DYNC2I1	HP:0008872	Feeding difficulties in infancy
55112	DYNC2I1	HP:0000007	Autosomal recessive inheritance
55112	DYNC2I1	HP:0001305	Dandy-Walker malformation
55112	DYNC2I1	HP:0002652	Skeletal dysplasia
55112	DYNC2I1	HP:0001321	Cerebellar hypoplasia
55112	DYNC2I1	HP:0002644	Abnormal pelvic girdle bone morphology
55112	DYNC2I1	HP:0002612	Congenital hepatic fibrosis
55112	DYNC2I1	HP:0000126	Hydronephrosis
55112	DYNC2I1	HP:0000112	Nephropathy
55112	DYNC2I1	HP:0000107	Renal cyst
55112	DYNC2I1	HP:0002023	Anal atresia
55112	DYNC2I1	HP:0002032	Esophageal atresia
55112	DYNC2I1	HP:0002007	Frontal bossing
55112	DYNC2I1	HP:0002006	Facial cleft
55112	DYNC2I1	HP:0002089	Pulmonary hypoplasia
55112	DYNC2I1	HP:0002093	Respiratory insufficiency
55112	DYNC2I1	HP:0010454	Acetabular spurs
55112	DYNC2I1	HP:0002119	Ventriculomegaly
55112	DYNC2I1	HP:0010564	Bifid epiglottis
55112	DYNC2I1	HP:0010579	Cone-shaped epiphysis
55112	DYNC2I1	HP:0100732	Pancreatic fibrosis
55112	DYNC2I1	HP:0004279	Short palm
55112	DYNC2I1	HP:0004322	Short stature
55112	DYNC2I1	HP:0030680	Abnormality of cardiovascular system morphology
55112	DYNC2I1	HP:0004397	Ectopic anus
55112	DYNC2I1	HP:0003026	Short long bone
55112	DYNC2I1	HP:0009106	Abnormal pelvis bone ossification
55112	DYNC2I1	HP:0000772	Abnormal rib morphology
55112	DYNC2I1	HP:0000766	Abnormal sternum morphology
55112	DYNC2I1	HP:0000774	Narrow chest
55112	DYNC2I1	HP:0000773	Short ribs
55112	DYNC2I1	HP:0005716	Lethal skeletal dysplasia
55112	DYNC2I1	HP:0000889	Abnormal clavicle morphology
55112	DYNC2I1	HP:0010297	Bifid tongue
55112	DYNC2I1	HP:0000895	Lateral clavicle hook
55112	DYNC2I1	HP:0003270	Abdominal distention
55112	DYNC2I1	HP:0004599	Absent or minimally ossified vertebral bodies
55112	DYNC2I1	HP:0100259	Postaxial polydactyly
55112	DYNC2I1	HP:0100258	Preaxial polydactyly
55112	DYNC2I1	HP:0010306	Short thorax
55112	DYNC2I1	HP:0000944	Abnormal metaphysis morphology
55112	DYNC2I1	HP:0007703	Abnormality of retinal pigmentation
55112	DYNC2I1	HP:0000286	Epicanthus
55112	DYNC2I1	HP:0000256	Macrocephaly
55112	DYNC2I1	HP:0001561	Polyhydramnios
55112	DYNC2I1	HP:0001539	Omphalocele
55112	DYNC2I1	HP:0000204	Cleft upper lip
55112	DYNC2I1	HP:0001508	Failure to thrive
55112	DYNC2I1	HP:0000343	Long philtrum
55112	DYNC2I1	HP:0000347	Micrognathia
55112	DYNC2I1	HP:0002983	Micromelia
55112	DYNC2I1	HP:0002980	Femoral bowing
55112	DYNC2I1	HP:0001629	Ventricular septal defect
55112	DYNC2I1	HP:0006644	Thoracic dysplasia
55112	DYNC2I1	HP:0005280	Depressed nasal bridge
55112	DYNC2I1	HP:0001789	Hydrops fetalis
55112	DYNC2I1	HP:0001770	Toe syndactyly
55112	DYNC2I1	HP:0001773	Short foot
55112	DYNC2I1	HP:0000445	Wide nose
55112	DYNC2I1	HP:0006703	Aplasia/Hypoplasia of the lungs
55112	DYNC2I1	HP:0000518	Cataract
55112	DYNC2I1	HP:0001830	Postaxial foot polydactyly
55120	FANCL	HP:0001172	Abnormal thumb morphology
55120	FANCL	HP:0001199	Triphalangeal thumb
55120	FANCL	HP:0008572	External ear malformation
55120	FANCL	HP:0009892	Anotia
55120	FANCL	HP:0008551	Microtia
55120	FANCL	HP:0002414	Spina bifida
55120	FANCL	HP:0001249	Intellectual disability
55120	FANCL	HP:0001263	Global developmental delay
55120	FANCL	HP:0002575	Tracheoesophageal fistula
55120	FANCL	HP:0006101	Finger syndactyly
55120	FANCL	HP:0007400	Irregular hyperpigmentation
55120	FANCL	HP:0100867	Duodenal stenosis
55120	FANCL	HP:0008678	Renal hypoplasia/aplasia
55120	FANCL	HP:0000089	Renal hypoplasia
55120	FANCL	HP:0000083	Renal insufficiency
55120	FANCL	HP:0001392	Abnormality of the liver
55120	FANCL	HP:0000079	Abnormality of the urinary system
55120	FANCL	HP:0000072	Hydroureter
55120	FANCL	HP:0012041	Decreased fertility in males
55120	FANCL	HP:0000054	Micropenis
55120	FANCL	HP:0000047	Hypospadias
55120	FANCL	HP:0001347	Hyperreflexia
55120	FANCL	HP:0000035	Abnormal testis morphology
55120	FANCL	HP:0000028	Cryptorchidism
55120	FANCL	HP:0000027	Azoospermia
55120	FANCL	HP:0007565	Multiple cafe-au-lait spots
55120	FANCL	HP:0002664	Neoplasm
55120	FANCL	HP:0000010	Recurrent urinary tract infections
55120	FANCL	HP:0000007	Autosomal recessive inheritance
55120	FANCL	HP:0002650	Scoliosis
55120	FANCL	HP:0001321	Cerebellar hypoplasia
55120	FANCL	HP:0003974	Absent radius
55120	FANCL	HP:0000175	Cleft palate
55120	FANCL	HP:0000135	Hypogonadism
55120	FANCL	HP:0000151	Aplasia of the uterus
55120	FANCL	HP:0006265	Aplasia/Hypoplasia of fingers
55120	FANCL	HP:0000122	Unilateral renal agenesis
55120	FANCL	HP:0000130	Abnormality of the uterus
55120	FANCL	HP:0002023	Anal atresia
55120	FANCL	HP:0002032	Esophageal atresia
55120	FANCL	HP:0002007	Frontal bossing
55120	FANCL	HP:0100542	Abnormal localization of kidney
55120	FANCL	HP:0100587	Abnormal preputium morphology
55120	FANCL	HP:0010469	Absent testis
55120	FANCL	HP:0002119	Ventriculomegaly
55120	FANCL	HP:0002188	Delayed CNS myelination
55120	FANCL	HP:0003593	Infantile onset
55120	FANCL	HP:0002245	Meckel diverticulum
55120	FANCL	HP:0003577	Congenital onset
55120	FANCL	HP:0002251	Aganglionic megacolon
55120	FANCL	HP:0100760	Clubbing of toes
55120	FANCL	HP:0007018	Attention deficit hyperactivity disorder
55120	FANCL	HP:0011968	Feeding difficulties
55120	FANCL	HP:0001053	Hypopigmented skin patches
55120	FANCL	HP:0001000	Abnormality of skin pigmentation
55120	FANCL	HP:0009777	Absent thumb
55120	FANCL	HP:0005528	Bone marrow hypocellularity
55120	FANCL	HP:0004209	Clinodactyly of the 5th finger
55120	FANCL	HP:0005522	Pyridoxine-responsive sideroblastic anemia
55120	FANCL	HP:0006824	Cranial nerve paralysis
55120	FANCL	HP:0000639	Nystagmus
55120	FANCL	HP:0001903	Anemia
55120	FANCL	HP:0012639	Abnormal nervous system morphology
55120	FANCL	HP:0004322	Short stature
55120	FANCL	HP:0003022	Hypoplasia of the ulna
55120	FANCL	HP:0004349	Reduced bone mineral density
55120	FANCL	HP:0012745	Short palpebral fissure
55120	FANCL	HP:0100026	Arteriovenous malformation
55120	FANCL	HP:0000864	Abnormality of the hypothalamus-pituitary axis
55120	FANCL	HP:0000813	Bicornuate uterus
55120	FANCL	HP:0010293	Aplasia/Hypoplasia of the uvula
55120	FANCL	HP:0040012	Chromosome breakage
55120	FANCL	HP:0040071	Abnormal morphology of ulna
55120	FANCL	HP:0003220	Abnormality of chromosome stability
55120	FANCL	HP:0003221	Chromosomal breakage induced by crosslinking agents
55120	FANCL	HP:0004590	Hypoplastic sacrum
55120	FANCL	HP:0000957	Cafe-au-lait spot
55120	FANCL	HP:0008053	Aplasia/Hypoplasia of the iris
55120	FANCL	HP:0000286	Epicanthus
55120	FANCL	HP:0000268	Dolichocephaly
55120	FANCL	HP:0002817	Abnormality of the upper limb
55120	FANCL	HP:0002827	Hip dislocation
55120	FANCL	HP:0002823	Abnormality of femur morphology
55120	FANCL	HP:0000238	Hydrocephalus
55120	FANCL	HP:0000252	Microcephaly
55120	FANCL	HP:0012210	Abnormal renal morphology
55120	FANCL	HP:0000218	High palate
55120	FANCL	HP:0001562	Oligohydramnios
55120	FANCL	HP:0001537	Umbilical hernia
55120	FANCL	HP:0002863	Myelodysplasia
55120	FANCL	HP:0001511	Intrauterine growth retardation
55120	FANCL	HP:0001510	Growth delay
55120	FANCL	HP:0006501	Aplasia/Hypoplasia of the radius
55120	FANCL	HP:0007874	Almond-shaped palpebral fissure
55120	FANCL	HP:0000365	Hearing impairment
55120	FANCL	HP:0000364	Hearing abnormality
55120	FANCL	HP:0000369	Low-set ears
55120	FANCL	HP:0001671	Abnormal cardiac septum morphology
55120	FANCL	HP:0000340	Sloping forehead
55120	FANCL	HP:0001679	Abnormal aortic morphology
55120	FANCL	HP:0000347	Micrognathia
55120	FANCL	HP:0000316	Hypertelorism
55120	FANCL	HP:0001646	Abnormal aortic valve morphology
55120	FANCL	HP:0001643	Patent ductus arteriosus
55120	FANCL	HP:0000324	Facial asymmetry
55120	FANCL	HP:0001639	Hypertrophic cardiomyopathy
55120	FANCL	HP:0001636	Tetralogy of Fallot
55120	FANCL	HP:0001631	Atrial septal defect
55120	FANCL	HP:0005344	Abnormal carotid artery morphology
55120	FANCL	HP:0000483	Astigmatism
55120	FANCL	HP:0000486	Strabismus
55120	FANCL	HP:0000478	Abnormality of the eye
55120	FANCL	HP:0000492	Abnormal eyelid morphology
55120	FANCL	HP:0000470	Short neck
55120	FANCL	HP:0000465	Webbed neck
55120	FANCL	HP:0001770	Toe syndactyly
55120	FANCL	HP:0000437	Depressed nasal tip
55120	FANCL	HP:0001763	Pes planus
55120	FANCL	HP:0000453	Choanal atresia
55120	FANCL	HP:0001776	Bilateral talipes equinovarus
55120	FANCL	HP:0001760	Abnormal foot morphology
55120	FANCL	HP:0000431	Wide nasal bridge
55120	FANCL	HP:0000518	Cataract
55120	FANCL	HP:0000520	Proptosis
55120	FANCL	HP:0001824	Weight loss
55120	FANCL	HP:0000508	Ptosis
55120	FANCL	HP:0000505	Visual impairment
55120	FANCL	HP:0000504	Abnormality of vision
55120	FANCL	HP:0000582	Upslanted palpebral fissure
55120	FANCL	HP:0000568	Microphthalmia
55120	FANCL	HP:0001871	Abnormality of blood and blood-forming tissues
55120	FANCL	HP:0001882	Leukopenia
55120	FANCL	HP:0001873	Thrombocytopenia
55129	ANO10	HP:0001152	Saccadic smooth pursuit
55129	ANO10	HP:0007240	Progressive gait ataxia
55129	ANO10	HP:0001272	Cerebellar atrophy
55129	ANO10	HP:0001256	Intellectual disability, mild
55129	ANO10	HP:0001249	Intellectual disability
55129	ANO10	HP:0001260	Dysarthria
55129	ANO10	HP:0007338	Hypermetric saccades
55129	ANO10	HP:0001350	Slurred speech
55129	ANO10	HP:0001348	Brisk reflexes
55129	ANO10	HP:0001347	Hyperreflexia
55129	ANO10	HP:0000007	Autosomal recessive inheritance
55129	ANO10	HP:0001310	Dysmetria
55129	ANO10	HP:0008969	Leg muscle stiffness
55129	ANO10	HP:0002080	Intention tremor
55129	ANO10	HP:0002066	Gait ataxia
55129	ANO10	HP:0002078	Truncal ataxia
55129	ANO10	HP:0002073	Progressive cerebellar ataxia
55129	ANO10	HP:0002070	Limb ataxia
55129	ANO10	HP:0003457	EMG abnormality
55129	ANO10	HP:0002197	Generalized-onset seizure
55129	ANO10	HP:0010545	Downbeat nystagmus
55129	ANO10	HP:0002380	Fasciculations
55129	ANO10	HP:0000639	Nystagmus
55129	ANO10	HP:0000651	Diplopia
55129	ANO10	HP:0000641	Dysmetric saccades
55129	ANO10	HP:0000608	Macular degeneration
55129	ANO10	HP:0000666	Horizontal nystagmus
55129	ANO10	HP:0011448	Ankle clonus
55129	ANO10	HP:0012379	Abnormal circulating enzyme concentration or activity
55129	ANO10	HP:0001761	Pes cavus
55129	ANO10	HP:0000518	Cataract
55129	ANO10	HP:0000508	Ptosis
55129	ANO10	HP:0000503	Tortuosity of conjunctival vessels
55130	ODAD2	HP:0025177	Peribronchovascular interstitial thickening
55130	ODAD2	HP:0002566	Intestinal malrotation
55130	ODAD2	HP:0001217	Clubbing
55130	ODAD2	HP:0000007	Autosomal recessive inheritance
55130	ODAD2	HP:0002643	Neonatal respiratory distress
55130	ODAD2	HP:0000119	Abnormality of the genitourinary system
55130	ODAD2	HP:0032543	Lithoptysis
55130	ODAD2	HP:0031245	Productive cough
55130	ODAD2	HP:0002011	Morphological central nervous system abnormality
55130	ODAD2	HP:0100582	Nasal polyposis
55130	ODAD2	HP:0002119	Ventriculomegaly
55130	ODAD2	HP:0002110	Bronchiectasis
55130	ODAD2	HP:0008222	Female infertility
55130	ODAD2	HP:0002257	Chronic rhinitis
55130	ODAD2	HP:0100750	Atelectasis
55130	ODAD2	HP:0032016	Abnormal sputum
55130	ODAD2	HP:0011947	Respiratory tract infection
55130	ODAD2	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
55130	ODAD2	HP:0010772	Anomalous pulmonary venous return
55130	ODAD2	HP:0030680	Abnormality of cardiovascular system morphology
55130	ODAD2	HP:0000750	Delayed speech and language development
55130	ODAD2	HP:0000924	Abnormality of the skeletal system
55130	ODAD2	HP:0004469	Chronic bronchitis
55130	ODAD2	HP:0011539	Atrial situs ambiguous
55130	ODAD2	HP:0011535	Abnormal atrial arrangement
55130	ODAD2	HP:0030828	Wheezing
55130	ODAD2	HP:0003251	Male infertility
55130	ODAD2	HP:0011617	Pulmonary situs ambiguus
55130	ODAD2	HP:0025576	Abnormal inferior vena cava morphology
55130	ODAD2	HP:0012265	Ciliary dyskinesia
55130	ODAD2	HP:0000238	Hydrocephalus
55130	ODAD2	HP:0012206	Abnormal sperm motility
55130	ODAD2	HP:0002878	Respiratory failure
55130	ODAD2	HP:0000389	Chronic otitis media
55130	ODAD2	HP:0006532	Recurrent pneumonia
55130	ODAD2	HP:0006536	Airway obstruction
55130	ODAD2	HP:0001696	Situs inversus totalis
55130	ODAD2	HP:0000365	Hearing impairment
55130	ODAD2	HP:0001669	Transposition of the great arteries
55130	ODAD2	HP:0031456	Ectopic pregnancy
55130	ODAD2	HP:0001627	Abnormal heart morphology
55130	ODAD2	HP:0005301	Persistent left superior vena cava
55130	ODAD2	HP:0000403	Recurrent otitis media
55130	ODAD2	HP:0000405	Conductive hearing impairment
55130	ODAD2	HP:0001719	Double outlet right ventricle
55130	ODAD2	HP:0011109	Chronic sinusitis
55130	ODAD2	HP:0011108	Recurrent sinusitis
55130	ODAD2	HP:0001746	Asplenia
55130	ODAD2	HP:0001748	Polysplenia
55130	ODAD2	HP:0001742	Nasal congestion
55130	ODAD2	HP:0005425	Recurrent sinopulmonary infections
55130	ODAD2	HP:0011274	Recurrent mycobacterial infections
55130	ODAD2	HP:0000510	Rod-cone dystrophy
55131	RBM28	HP:0002493	Upper motor neuron dysfunction
55131	RBM28	HP:0003758	Reduced subcutaneous adipose tissue
55131	RBM28	HP:0003700	Generalized amyotrophy
55131	RBM28	HP:0001249	Intellectual disability
55131	RBM28	HP:0007373	Motor neuron atrophy
55131	RBM28	HP:0031074	Abnormal response to ACTH stimulation test
55131	RBM28	HP:0000044	Hypogonadotropic hypogonadism
55131	RBM28	HP:0007481	Hyperpigmented nevi
55131	RBM28	HP:0000007	Autosomal recessive inheritance
55131	RBM28	HP:0002751	Kyphoscoliosis
55131	RBM28	HP:0002750	Delayed skeletal maturation
55131	RBM28	HP:0011734	Central adrenal insufficiency
55131	RBM28	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
55131	RBM28	HP:0100578	Lipoatrophy
55131	RBM28	HP:0009487	Ulnar deviation of the hand
55131	RBM28	HP:0008245	Pituitary hypothyroidism
55131	RBM28	HP:0008202	Reduced circulating prolactin concentration
55131	RBM28	HP:0010627	Anterior pituitary hypoplasia
55131	RBM28	HP:0002333	Motor deterioration
55131	RBM28	HP:0000670	Carious teeth
55131	RBM28	HP:0000668	Hypodontia
55131	RBM28	HP:0004322	Short stature
55131	RBM28	HP:0000771	Gynecomastia
55131	RBM28	HP:0003121	Limb joint contracture
55131	RBM28	HP:0000824	Decreased response to growth hormone stimulation test
55131	RBM28	HP:0000823	Delayed puberty
55131	RBM28	HP:0003202	Skeletal muscle atrophy
55131	RBM28	HP:0000995	Melanocytic nevus
55131	RBM28	HP:0000953	Hyperpigmentation of the skin
55131	RBM28	HP:0040171	Decreased serum testosterone concentration
55131	RBM28	HP:0001596	Alopecia
55131	RBM28	HP:0002828	Multiple joint contractures
55131	RBM28	HP:0000252	Microcephaly
55131	RBM28	HP:0006480	Premature loss of teeth
55131	RBM28	HP:0012506	Small pituitary gland
55131	RBM28	HP:0030353	Decreased serum insulin-like growth factor 1
55135	WRAP53	HP:0010885	Avascular necrosis
55135	WRAP53	HP:0001263	Global developmental delay
55135	WRAP53	HP:0001231	Abnormal fingernail morphology
55135	WRAP53	HP:0002575	Tracheoesophageal fistula
55135	WRAP53	HP:0008661	Urethral stenosis
55135	WRAP53	HP:0002514	Cerebral calcification
55135	WRAP53	HP:0001399	Hepatic failure
55135	WRAP53	HP:0001394	Cirrhosis
55135	WRAP53	HP:0000035	Abnormal testis morphology
55135	WRAP53	HP:0002664	Neoplasm
55135	WRAP53	HP:0000008	Abnormal morphology of female internal genitalia
55135	WRAP53	HP:0000007	Autosomal recessive inheritance
55135	WRAP53	HP:0002665	Lymphoma
55135	WRAP53	HP:0002650	Scoliosis
55135	WRAP53	HP:0000164	Abnormality of the dentition
55135	WRAP53	HP:0002757	Recurrent fractures
55135	WRAP53	HP:0002745	Oral leukoplakia
55135	WRAP53	HP:0002024	Malabsorption
55135	WRAP53	HP:0010450	Esophageal stenosis
55135	WRAP53	HP:0100585	Telangiectasia of the skin
55135	WRAP53	HP:0002240	Hepatomegaly
55135	WRAP53	HP:0002216	Premature graying of hair
55135	WRAP53	HP:0002205	Recurrent respiratory infections
55135	WRAP53	HP:0008404	Nail dystrophy
55135	WRAP53	HP:0010624	Aplastic/hypoplastic toenail
55135	WRAP53	HP:0001053	Hypopigmented skin patches
55135	WRAP53	HP:0001034	Hypermelanotic macule
55135	WRAP53	HP:0001000	Abnormality of skin pigmentation
55135	WRAP53	HP:0200037	Skin vesicle
55135	WRAP53	HP:0100670	Coarse metaphyseal trabecularization
55135	WRAP53	HP:0100627	Displacement of the urethral meatus
55135	WRAP53	HP:0200042	Skin ulcer
55135	WRAP53	HP:0005528	Bone marrow hypocellularity
55135	WRAP53	HP:0001928	Abnormality of coagulation
55135	WRAP53	HP:0000600	Abnormality of the pharynx
55135	WRAP53	HP:0001903	Anemia
55135	WRAP53	HP:0011364	White hair
55135	WRAP53	HP:0000679	Taurodontia
55135	WRAP53	HP:0000670	Carious teeth
55135	WRAP53	HP:0000668	Hypodontia
55135	WRAP53	HP:0004322	Short stature
55135	WRAP53	HP:0012732	Anorectal anomaly
55135	WRAP53	HP:0012733	Macule
55135	WRAP53	HP:0000704	Periodontitis
55135	WRAP53	HP:0000819	Diabetes mellitus
55135	WRAP53	HP:0000975	Hyperhidrosis
55135	WRAP53	HP:0000982	Palmoplantar keratoderma
55135	WRAP53	HP:0000939	Osteoporosis
55135	WRAP53	HP:0008070	Sparse hair
55135	WRAP53	HP:0008065	Aplasia/Hypoplasia of the skin
55135	WRAP53	HP:0008066	Abnormal blistering of the skin
55135	WRAP53	HP:0001596	Alopecia
55135	WRAP53	HP:0031413	Short telomere length
55135	WRAP53	HP:0002894	Neoplasm of the pancreas
55135	WRAP53	HP:0001511	Intrauterine growth retardation
55135	WRAP53	HP:0000365	Hearing impairment
55135	WRAP53	HP:0000327	Hypoplasia of the maxilla
55135	WRAP53	HP:0000499	Abnormal eyelash morphology
55135	WRAP53	HP:0000498	Blepharitis
55135	WRAP53	HP:0005374	Cellular immunodeficiency
55135	WRAP53	HP:0001744	Splenomegaly
55135	WRAP53	HP:0030413	Squamous cell carcinoma of the tongue
55135	WRAP53	HP:0000518	Cataract
55135	WRAP53	HP:0000534	Abnormal eyebrow morphology
55135	WRAP53	HP:0001874	Abnormality of neutrophils
55135	WRAP53	HP:0001873	Thrombocytopenia
55135	WRAP53	HP:0001876	Pancytopenia
55145	THAP1	HP:0002451	Limb dystonia
55145	THAP1	HP:0007325	Generalized dystonia
55145	THAP1	HP:0001260	Dysarthria
55145	THAP1	HP:0003829	Typified by incomplete penetrance
55145	THAP1	HP:0031008	Lingual dystonia
55145	THAP1	HP:0012048	Oromandibular dystonia
55145	THAP1	HP:0012049	Laryngeal dystonia
55145	THAP1	HP:0001332	Dystonia
55145	THAP1	HP:0000006	Autosomal dominant inheritance
55145	THAP1	HP:0001336	Myoclonus
55145	THAP1	HP:0001304	Torsion dystonia
55145	THAP1	HP:0012179	Craniofacial dystonia
55145	THAP1	HP:0002356	Writer's cramp
55145	THAP1	HP:0003621	Juvenile onset
55145	THAP1	HP:0000643	Blepharospasm
55145	THAP1	HP:0011462	Young adult onset
55145	THAP1	HP:0001618	Dysphonia
55145	THAP1	HP:0000473	Torticollis
55148	UBR7	HP:0001250	Seizure
55148	UBR7	HP:0001252	Hypotonia
55148	UBR7	HP:0002579	Gastrointestinal dysmotility
55148	UBR7	HP:0001249	Intellectual disability
55148	UBR7	HP:0001263	Global developmental delay
55148	UBR7	HP:0000054	Micropenis
55148	UBR7	HP:0000028	Cryptorchidism
55148	UBR7	HP:0000007	Autosomal recessive inheritance
55148	UBR7	HP:0033258	Sudden unexpected death in epilepsy
55148	UBR7	HP:0003577	Congenital onset
55148	UBR7	HP:0004322	Short stature
55148	UBR7	HP:0003065	Patellar hypoplasia
55148	UBR7	HP:0000821	Hypothyroidism
55148	UBR7	HP:0000998	Hypertrichosis
55148	UBR7	HP:0000954	Single transverse palmar crease
55148	UBR7	HP:0000369	Low-set ears
55148	UBR7	HP:0000343	Long philtrum
55148	UBR7	HP:0000316	Hypertelorism
55148	UBR7	HP:0001643	Patent ductus arteriosus
55148	UBR7	HP:0001655	Patent foramen ovale
55148	UBR7	HP:0001629	Ventricular septal defect
55148	UBR7	HP:0001631	Atrial septal defect
55148	UBR7	HP:0000494	Downslanted palpebral fissures
55148	UBR7	HP:0000506	Telecanthus
55148	UBR7	HP:0000508	Ptosis
55148	UBR7	HP:0011220	Prominent forehead
55148	UBR7	HP:0000574	Thick eyebrow
55149	MTPAP	HP:0002497	Spastic ataxia
55149	MTPAP	HP:0007240	Progressive gait ataxia
55149	MTPAP	HP:0001270	Motor delay
55149	MTPAP	HP:0001265	Hyporeflexia
55149	MTPAP	HP:0001260	Dysarthria
55149	MTPAP	HP:0001347	Hyperreflexia
55149	MTPAP	HP:0000007	Autosomal recessive inheritance
55149	MTPAP	HP:0001336	Myoclonus
55149	MTPAP	HP:0000182	Movement abnormality of the tongue
55149	MTPAP	HP:0002066	Gait ataxia
55149	MTPAP	HP:0002073	Progressive cerebellar ataxia
55149	MTPAP	HP:0002070	Limb ataxia
55149	MTPAP	HP:0003487	Babinski sign
55149	MTPAP	HP:0003593	Infantile onset
55149	MTPAP	HP:0007083	Hyperactive patellar reflex
55149	MTPAP	HP:0002359	Frequent falls
55149	MTPAP	HP:0003677	Slowly progressive
55149	MTPAP	HP:0002313	Spastic paraparesis
55149	MTPAP	HP:0200049	Upper limb hypertonia
55149	MTPAP	HP:0009072	Decreased Achilles reflex
55149	MTPAP	HP:0006895	Lower limb hypertonia
55149	MTPAP	HP:0000639	Nystagmus
55149	MTPAP	HP:0000648	Optic atrophy
55149	MTPAP	HP:0031936	Delayed ability to walk
55149	MTPAP	HP:0000750	Delayed speech and language development
55149	MTPAP	HP:0000712	Emotional lability
55151	TMEM38B	HP:0001270	Motor delay
55151	TMEM38B	HP:0001263	Global developmental delay
55151	TMEM38B	HP:0002659	Increased susceptibility to fractures
55151	TMEM38B	HP:0000007	Autosomal recessive inheritance
55151	TMEM38B	HP:0002650	Scoliosis
55151	TMEM38B	HP:0002757	Recurrent fractures
55151	TMEM38B	HP:0003593	Infantile onset
55151	TMEM38B	HP:0003623	Neonatal onset
55151	TMEM38B	HP:0004322	Short stature
55151	TMEM38B	HP:0030674	Antenatal onset
55151	TMEM38B	HP:0011463	Childhood onset
55151	TMEM38B	HP:0000938	Osteopenia
55151	TMEM38B	HP:0002980	Femoral bowing
55151	TMEM38B	HP:0000407	Sensorineural hearing impairment
55151	TMEM38B	HP:0000592	Blue sclerae
55152	DALRD3	HP:0002421	Poor head control
55152	DALRD3	HP:0003700	Generalized amyotrophy
55152	DALRD3	HP:0001298	Encephalopathy
55152	DALRD3	HP:0001290	Generalized hypotonia
55152	DALRD3	HP:0001273	Abnormal corpus callosum morphology
55152	DALRD3	HP:0001268	Mental deterioration
55152	DALRD3	HP:0001250	Seizure
55152	DALRD3	HP:0001251	Ataxia
55152	DALRD3	HP:0001249	Intellectual disability
55152	DALRD3	HP:0001265	Hyporeflexia
55152	DALRD3	HP:0001263	Global developmental delay
55152	DALRD3	HP:0001257	Spasticity
55152	DALRD3	HP:0002521	Hypsarrhythmia
55152	DALRD3	HP:0002509	Limb hypertonia
55152	DALRD3	HP:0001332	Dystonia
55152	DALRD3	HP:0001344	Absent speech
55152	DALRD3	HP:0000007	Autosomal recessive inheritance
55152	DALRD3	HP:0001337	Tremor
55152	DALRD3	HP:0001336	Myoclonus
55152	DALRD3	HP:0001315	Reduced tendon reflexes
55152	DALRD3	HP:0002020	Gastroesophageal reflux
55152	DALRD3	HP:0002063	Rigidity
55152	DALRD3	HP:0002059	Cerebral atrophy
55152	DALRD3	HP:0002133	Status epilepticus
55152	DALRD3	HP:0003429	CNS hypomyelination
55152	DALRD3	HP:0100710	Impulsivity
55152	DALRD3	HP:0007018	Attention deficit hyperactivity disorder
55152	DALRD3	HP:0011968	Feeding difficulties
55152	DALRD3	HP:0002376	Developmental regression
55152	DALRD3	HP:0002355	Difficulty walking
55152	DALRD3	HP:0002317	Unsteady gait
55152	DALRD3	HP:0010844	EEG with multifocal slow activity
55152	DALRD3	HP:0100660	Dyskinesia
55152	DALRD3	HP:0000639	Nystagmus
55152	DALRD3	HP:0000648	Optic atrophy
55152	DALRD3	HP:0011344	Severe global developmental delay
55152	DALRD3	HP:0000668	Hypodontia
55152	DALRD3	HP:0004322	Short stature
55152	DALRD3	HP:0004305	Involuntary movements
55152	DALRD3	HP:0000750	Delayed speech and language development
55152	DALRD3	HP:0000717	Autism
55152	DALRD3	HP:0000708	Atypical behavior
55152	DALRD3	HP:0011471	Gastrostomy tube feeding in infancy
55152	DALRD3	HP:0011443	Abnormality of coordination
55152	DALRD3	HP:0000252	Microcephaly
55152	DALRD3	HP:0001562	Oligohydramnios
55152	DALRD3	HP:0001558	Decreased fetal movement
55152	DALRD3	HP:0001508	Failure to thrive
55152	DALRD3	HP:0001518	Small for gestational age
55152	DALRD3	HP:0000348	High forehead
55152	DALRD3	HP:0032794	Myoclonic seizure
55152	DALRD3	HP:0000494	Downslanted palpebral fissures
55152	DALRD3	HP:0012444	Brain atrophy
55152	DALRD3	HP:0012447	Abnormal myelination
55152	DALRD3	HP:0000508	Ptosis
55152	DALRD3	HP:0000504	Abnormality of vision
55152	DALRD3	HP:0012547	Abnormal involuntary eye movements
55152	DALRD3	HP:0000546	Retinal degeneration
55154	MSTO1	HP:0003737	Mitochondrial myopathy
55154	MSTO1	HP:0003701	Proximal muscle weakness
55154	MSTO1	HP:0001290	Generalized hypotonia
55154	MSTO1	HP:0001270	Motor delay
55154	MSTO1	HP:0001256	Intellectual disability, mild
55154	MSTO1	HP:0001251	Ataxia
55154	MSTO1	HP:0001265	Hyporeflexia
55154	MSTO1	HP:0100887	Abnormality of globe size
55154	MSTO1	HP:0100874	Thick hair
55154	MSTO1	HP:0002540	Inability to walk
55154	MSTO1	HP:0012032	Lipoma
55154	MSTO1	HP:0001324	Muscle weakness
55154	MSTO1	HP:0000007	Autosomal recessive inheritance
55154	MSTO1	HP:0001337	Tremor
55154	MSTO1	HP:0000006	Autosomal dominant inheritance
55154	MSTO1	HP:0001310	Dysmetria
55154	MSTO1	HP:0002650	Scoliosis
55154	MSTO1	HP:0001321	Cerebellar hypoplasia
55154	MSTO1	HP:0002761	Generalized joint laxity
55154	MSTO1	HP:0002750	Delayed skeletal maturation
55154	MSTO1	HP:0003326	Myalgia
55154	MSTO1	HP:0003391	Gowers sign
55154	MSTO1	HP:0002078	Truncal ataxia
55154	MSTO1	HP:0002075	Dysdiadochokinesis
55154	MSTO1	HP:0002073	Progressive cerebellar ataxia
55154	MSTO1	HP:0002070	Limb ataxia
55154	MSTO1	HP:0002058	Myopathic facies
55154	MSTO1	HP:0008180	Mildly elevated creatine kinase
55154	MSTO1	HP:0003474	Somatic sensory dysfunction
55154	MSTO1	HP:0003458	EMG: myopathic abnormalities
55154	MSTO1	HP:0003557	Increased variability in muscle fiber diameter
55154	MSTO1	HP:0100753	Schizophrenia
55154	MSTO1	HP:0003693	Distal amyotrophy
55154	MSTO1	HP:0001012	Multiple lipomas
55154	MSTO1	HP:0002355	Difficulty walking
55154	MSTO1	HP:0000601	Hypotelorism
55154	MSTO1	HP:0009051	Increased muscle glycogen content
55154	MSTO1	HP:0004322	Short stature
55154	MSTO1	HP:0000767	Pectus excavatum
55154	MSTO1	HP:0000739	Anxiety
55154	MSTO1	HP:0000750	Delayed speech and language development
55154	MSTO1	HP:0000716	Depression
55154	MSTO1	HP:0000729	Autistic behavior
55154	MSTO1	HP:0000786	Primary amenorrhea
55154	MSTO1	HP:0000870	Increased circulating prolactin concentration
55154	MSTO1	HP:0000836	Hyperthyroidism
55154	MSTO1	HP:0003236	Elevated circulating creatine kinase concentration
55154	MSTO1	HP:0030890	Hyperintensity of cerebral white matter on MRI
55154	MSTO1	HP:0000980	Pallor
55154	MSTO1	HP:0000276	Long face
55154	MSTO1	HP:0012240	Increased intramyocellular lipid droplets
55154	MSTO1	HP:0000218	High palate
55154	MSTO1	HP:0001510	Growth delay
55154	MSTO1	HP:0002936	Distal sensory impairment
55154	MSTO1	HP:0000365	Hearing impairment
55154	MSTO1	HP:0000347	Micrognathia
55154	MSTO1	HP:0000303	Mandibular prognathia
55154	MSTO1	HP:0030319	Weakness of facial musculature
55154	MSTO1	HP:0001761	Pes cavus
55154	MSTO1	HP:0000580	Pigmentary retinopathy
55154	MSTO1	HP:0000543	Optic disc pallor
55157	DARS2	HP:0002497	Spastic ataxia
55157	DARS2	HP:0002493	Upper motor neuron dysfunction
55157	DARS2	HP:0002490	Increased CSF lactate
55157	DARS2	HP:0002460	Distal muscle weakness
55157	DARS2	HP:0001276	Hypertonia
55157	DARS2	HP:0001272	Cerebellar atrophy
55157	DARS2	HP:0001271	Polyneuropathy
55157	DARS2	HP:0001270	Motor delay
55157	DARS2	HP:0001268	Mental deterioration
55157	DARS2	HP:0001250	Seizure
55157	DARS2	HP:0001252	Hypotonia
55157	DARS2	HP:0001251	Ataxia
55157	DARS2	HP:0001249	Intellectual disability
55157	DARS2	HP:0001265	Hyporeflexia
55157	DARS2	HP:0001260	Dysarthria
55157	DARS2	HP:0001257	Spasticity
55157	DARS2	HP:0003828	Variable expressivity
55157	DARS2	HP:0002505	Loss of ambulation
55157	DARS2	HP:0001371	Flexion contracture
55157	DARS2	HP:0001350	Slurred speech
55157	DARS2	HP:0001347	Hyperreflexia
55157	DARS2	HP:0001328	Specific learning disability
55157	DARS2	HP:0001324	Muscle weakness
55157	DARS2	HP:0001344	Absent speech
55157	DARS2	HP:0000007	Autosomal recessive inheritance
55157	DARS2	HP:0001337	Tremor
55157	DARS2	HP:0001317	Abnormal cerebellum morphology
55157	DARS2	HP:0001315	Reduced tendon reflexes
55157	DARS2	HP:0007668	Impaired pursuit initiation and maintenance
55157	DARS2	HP:0008969	Leg muscle stiffness
55157	DARS2	HP:0100543	Cognitive impairment
55157	DARS2	HP:0002078	Truncal ataxia
55157	DARS2	HP:0002079	Hypoplasia of the corpus callosum
55157	DARS2	HP:0002073	Progressive cerebellar ataxia
55157	DARS2	HP:0002059	Cerebral atrophy
55157	DARS2	HP:0003477	Peripheral axonal neuropathy
55157	DARS2	HP:0003487	Babinski sign
55157	DARS2	HP:0002151	Increased serum lactate
55157	DARS2	HP:0002191	Progressive spasticity
55157	DARS2	HP:0002166	Impaired vibration sensation in the lower limbs
55157	DARS2	HP:0002167	Abnormality of speech or vocalization
55157	DARS2	HP:0007010	Poor fine motor coordination
55157	DARS2	HP:0002355	Difficulty walking
55157	DARS2	HP:0002352	Leukoencephalopathy
55157	DARS2	HP:0003677	Slowly progressive
55157	DARS2	HP:0002317	Unsteady gait
55157	DARS2	HP:0010794	Impaired visuospatial constructive cognition
55157	DARS2	HP:0002312	Clumsiness
55157	DARS2	HP:0006858	Impaired distal proprioception
55157	DARS2	HP:0011397	Abnormality of the dorsal column of the spinal cord
55157	DARS2	HP:0000639	Nystagmus
55157	DARS2	HP:0000651	Diplopia
55157	DARS2	HP:0000648	Optic atrophy
55157	DARS2	HP:0009055	Generalized limb muscle atrophy
55157	DARS2	HP:0006978	Dysmyelinating leukodystrophy
55157	DARS2	HP:0003202	Skeletal muscle atrophy
55157	DARS2	HP:0000365	Hearing impairment
55157	DARS2	HP:0005340	Spastic/hyperactive bladder
55157	DARS2	HP:0000514	Slow saccadic eye movements
55157	DARS2	HP:0000508	Ptosis
55159	RFWD3	HP:0001172	Abnormal thumb morphology
55159	RFWD3	HP:0001199	Triphalangeal thumb
55159	RFWD3	HP:0008572	External ear malformation
55159	RFWD3	HP:0002414	Spina bifida
55159	RFWD3	HP:0001249	Intellectual disability
55159	RFWD3	HP:0001263	Global developmental delay
55159	RFWD3	HP:0002575	Tracheoesophageal fistula
55159	RFWD3	HP:0006101	Finger syndactyly
55159	RFWD3	HP:0007400	Irregular hyperpigmentation
55159	RFWD3	HP:0100867	Duodenal stenosis
55159	RFWD3	HP:0008678	Renal hypoplasia/aplasia
55159	RFWD3	HP:0002518	Abnormal periventricular white matter morphology
55159	RFWD3	HP:0000089	Renal hypoplasia
55159	RFWD3	HP:0000083	Renal insufficiency
55159	RFWD3	HP:0001392	Abnormality of the liver
55159	RFWD3	HP:0000079	Abnormality of the urinary system
55159	RFWD3	HP:0000072	Hydroureter
55159	RFWD3	HP:0012041	Decreased fertility in males
55159	RFWD3	HP:0000047	Hypospadias
55159	RFWD3	HP:0001347	Hyperreflexia
55159	RFWD3	HP:0000035	Abnormal testis morphology
55159	RFWD3	HP:0000028	Cryptorchidism
55159	RFWD3	HP:0000027	Azoospermia
55159	RFWD3	HP:0007565	Multiple cafe-au-lait spots
55159	RFWD3	HP:0002664	Neoplasm
55159	RFWD3	HP:0000010	Recurrent urinary tract infections
55159	RFWD3	HP:0000007	Autosomal recessive inheritance
55159	RFWD3	HP:0002650	Scoliosis
55159	RFWD3	HP:0000175	Cleft palate
55159	RFWD3	HP:0000135	Hypogonadism
55159	RFWD3	HP:0410049	Abnormal radial ray morphology
55159	RFWD3	HP:0006265	Aplasia/Hypoplasia of fingers
55159	RFWD3	HP:0000130	Abnormality of the uterus
55159	RFWD3	HP:0002023	Anal atresia
55159	RFWD3	HP:0002007	Frontal bossing
55159	RFWD3	HP:0011800	Midface retrusion
55159	RFWD3	HP:0100542	Abnormal localization of kidney
55159	RFWD3	HP:0100587	Abnormal preputium morphology
55159	RFWD3	HP:0010469	Absent testis
55159	RFWD3	HP:0002119	Ventriculomegaly
55159	RFWD3	HP:0002245	Meckel diverticulum
55159	RFWD3	HP:0003577	Congenital onset
55159	RFWD3	HP:0002251	Aganglionic megacolon
55159	RFWD3	HP:0002247	Duodenal atresia
55159	RFWD3	HP:0100760	Clubbing of toes
55159	RFWD3	HP:0001053	Hypopigmented skin patches
55159	RFWD3	HP:0001000	Abnormality of skin pigmentation
55159	RFWD3	HP:0009777	Absent thumb
55159	RFWD3	HP:0002308	Chiari malformation
55159	RFWD3	HP:0004209	Clinodactyly of the 5th finger
55159	RFWD3	HP:0005522	Pyridoxine-responsive sideroblastic anemia
55159	RFWD3	HP:0006824	Cranial nerve paralysis
55159	RFWD3	HP:0000639	Nystagmus
55159	RFWD3	HP:0001903	Anemia
55159	RFWD3	HP:0012639	Abnormal nervous system morphology
55159	RFWD3	HP:0004322	Short stature
55159	RFWD3	HP:0003022	Hypoplasia of the ulna
55159	RFWD3	HP:0004349	Reduced bone mineral density
55159	RFWD3	HP:0012745	Short palpebral fissure
55159	RFWD3	HP:0100026	Arteriovenous malformation
55159	RFWD3	HP:0000864	Abnormality of the hypothalamus-pituitary axis
55159	RFWD3	HP:0000813	Bicornuate uterus
55159	RFWD3	HP:0000824	Decreased response to growth hormone stimulation test
55159	RFWD3	HP:0010293	Aplasia/Hypoplasia of the uvula
55159	RFWD3	HP:0040071	Abnormal morphology of ulna
55159	RFWD3	HP:0003220	Abnormality of chromosome stability
55159	RFWD3	HP:0008053	Aplasia/Hypoplasia of the iris
55159	RFWD3	HP:0000286	Epicanthus
55159	RFWD3	HP:0000268	Dolichocephaly
55159	RFWD3	HP:0002817	Abnormality of the upper limb
55159	RFWD3	HP:0002827	Hip dislocation
55159	RFWD3	HP:0002823	Abnormality of femur morphology
55159	RFWD3	HP:0000238	Hydrocephalus
55159	RFWD3	HP:0000252	Microcephaly
55159	RFWD3	HP:0012210	Abnormal renal morphology
55159	RFWD3	HP:0000218	High palate
55159	RFWD3	HP:0001562	Oligohydramnios
55159	RFWD3	HP:0001537	Umbilical hernia
55159	RFWD3	HP:0002863	Myelodysplasia
55159	RFWD3	HP:0001511	Intrauterine growth retardation
55159	RFWD3	HP:0001510	Growth delay
55159	RFWD3	HP:0006501	Aplasia/Hypoplasia of the radius
55159	RFWD3	HP:0007874	Almond-shaped palpebral fissure
55159	RFWD3	HP:0000365	Hearing impairment
55159	RFWD3	HP:0000364	Hearing abnormality
55159	RFWD3	HP:0001671	Abnormal cardiac septum morphology
55159	RFWD3	HP:0000340	Sloping forehead
55159	RFWD3	HP:0001679	Abnormal aortic morphology
55159	RFWD3	HP:0000347	Micrognathia
55159	RFWD3	HP:0000316	Hypertelorism
55159	RFWD3	HP:0001646	Abnormal aortic valve morphology
55159	RFWD3	HP:0001643	Patent ductus arteriosus
55159	RFWD3	HP:0002984	Hypoplasia of the radius
55159	RFWD3	HP:0000324	Facial asymmetry
55159	RFWD3	HP:0001639	Hypertrophic cardiomyopathy
55159	RFWD3	HP:0001636	Tetralogy of Fallot
55159	RFWD3	HP:0001631	Atrial septal defect
55159	RFWD3	HP:0005344	Abnormal carotid artery morphology
55159	RFWD3	HP:0000483	Astigmatism
55159	RFWD3	HP:0000486	Strabismus
55159	RFWD3	HP:0000478	Abnormality of the eye
55159	RFWD3	HP:0000492	Abnormal eyelid morphology
55159	RFWD3	HP:0001770	Toe syndactyly
55159	RFWD3	HP:0001763	Pes planus
55159	RFWD3	HP:0000453	Choanal atresia
55159	RFWD3	HP:0001748	Polysplenia
55159	RFWD3	HP:0001760	Abnormal foot morphology
55159	RFWD3	HP:0000518	Cataract
55159	RFWD3	HP:0000520	Proptosis
55159	RFWD3	HP:0001824	Weight loss
55159	RFWD3	HP:0000508	Ptosis
55159	RFWD3	HP:0000505	Visual impairment
55159	RFWD3	HP:0000504	Abnormality of vision
55159	RFWD3	HP:0000582	Upslanted palpebral fissure
55159	RFWD3	HP:0031689	Megakaryocyte dysplasia
55159	RFWD3	HP:0000568	Microphthalmia
55159	RFWD3	HP:0001871	Abnormality of blood and blood-forming tissues
55159	RFWD3	HP:0001882	Leukopenia
55159	RFWD3	HP:0001873	Thrombocytopenia
55163	PNPO	HP:0003785	Decreased CSF homovanillic acid concentration
55163	PNPO	HP:0010917	Abnormal circulating tyrosine concentration
55163	PNPO	HP:0010904	Abnormal circulating histidine concentration
55163	PNPO	HP:0010900	Abnormal circulating threonine concentration
55163	PNPO	HP:0010909	Abnormal circulating arginine concentration
55163	PNPO	HP:0010895	Abnormal circulating glycine concentration
55163	PNPO	HP:0010851	EEG with burst suppression
55163	PNPO	HP:0001298	Encephalopathy
55163	PNPO	HP:0001276	Hypertonia
55163	PNPO	HP:0001250	Seizure
55163	PNPO	HP:0001263	Global developmental delay
55163	PNPO	HP:0008872	Feeding difficulties in infancy
55163	PNPO	HP:0000007	Autosomal recessive inheritance
55163	PNPO	HP:0001336	Myoclonus
55163	PNPO	HP:0025430	High-pitched cry
55163	PNPO	HP:0008936	Axial hypotonia
55163	PNPO	HP:0005961	Hypoargininemia
55163	PNPO	HP:0030917	Low APGAR score
55163	PNPO	HP:0002151	Increased serum lactate
55163	PNPO	HP:0002133	Status epilepticus
55163	PNPO	HP:0200134	Epileptic encephalopathy
55163	PNPO	HP:0002283	Global brain atrophy
55163	PNPO	HP:0011968	Feeding difficulties
55163	PNPO	HP:0002317	Unsteady gait
55163	PNPO	HP:0005522	Pyridoxine-responsive sideroblastic anemia
55163	PNPO	HP:0001943	Hypoglycemia
55163	PNPO	HP:0001942	Metabolic acidosis
55163	PNPO	HP:0001903	Anemia
55163	PNPO	HP:0000253	Progressive microcephaly
55163	PNPO	HP:0001583	Rotary nystagmus
55163	PNPO	HP:0000252	Microcephaly
55163	PNPO	HP:0001560	Abnormality of the amniotic fluid
55163	PNPO	HP:0001508	Failure to thrive
55163	PNPO	HP:0001622	Premature birth
55163	PNPO	HP:0000496	Abnormality of eye movement
55164	SHQ1	HP:0010852	EEG with photoparoxysmal response
55164	SHQ1	HP:0001276	Hypertonia
55164	SHQ1	HP:0001272	Cerebellar atrophy
55164	SHQ1	HP:0001288	Gait disturbance
55164	SHQ1	HP:0001250	Seizure
55164	SHQ1	HP:0001252	Hypotonia
55164	SHQ1	HP:0001249	Intellectual disability
55164	SHQ1	HP:0001263	Global developmental delay
55164	SHQ1	HP:0002510	Spastic tetraplegia
55164	SHQ1	HP:0001332	Dystonia
55164	SHQ1	HP:0001344	Absent speech
55164	SHQ1	HP:0000007	Autosomal recessive inheritance
55164	SHQ1	HP:0001321	Cerebellar hypoplasia
55164	SHQ1	HP:0002019	Constipation
55164	SHQ1	HP:0005968	Temperature instability
55164	SHQ1	HP:0002072	Chorea
55164	SHQ1	HP:0002120	Cerebral cortical atrophy
55164	SHQ1	HP:0002119	Ventriculomegaly
55164	SHQ1	HP:0033258	Sudden unexpected death in epilepsy
55164	SHQ1	HP:0003593	Infantile onset
55164	SHQ1	HP:0100716	Self-injurious behavior
55164	SHQ1	HP:0011968	Feeding difficulties
55164	SHQ1	HP:0002305	Athetosis
55164	SHQ1	HP:0034197	Third trimester onset
55164	SHQ1	HP:0003011	Abnormality of the musculature
55164	SHQ1	HP:0100022	Abnormality of movement
55164	SHQ1	HP:0000739	Anxiety
55164	SHQ1	HP:0011461	Fetal onset
55164	SHQ1	HP:0000975	Hyperhidrosis
55164	SHQ1	HP:0001558	Decreased fetal movement
55164	SHQ1	HP:0031358	Vegetative state
55164	SHQ1	HP:0001511	Intrauterine growth retardation
55164	SHQ1	HP:0001608	Abnormality of the voice
55165	CEP55	HP:0001156	Brachydactyly
55165	CEP55	HP:0003826	Stillbirth
55165	CEP55	HP:0003811	Neonatal death
55165	CEP55	HP:0000089	Renal hypoplasia
55165	CEP55	HP:0000007	Autosomal recessive inheritance
55165	CEP55	HP:0001321	Cerebellar hypoplasia
55165	CEP55	HP:0000110	Renal dysplasia
55165	CEP55	HP:0000107	Renal cyst
55165	CEP55	HP:0004691	2-3 toe syndactyly
55165	CEP55	HP:0005989	Redundant neck skin
55165	CEP55	HP:0002009	Potter facies
55165	CEP55	HP:0002089	Pulmonary hypoplasia
55165	CEP55	HP:0002365	Hypoplasia of the brainstem
55165	CEP55	HP:0002324	Hydranencephaly
55165	CEP55	HP:0004209	Clinodactyly of the 5th finger
55165	CEP55	HP:0012725	Cutaneous syndactyly
55165	CEP55	HP:4000150	Multinucleated neuron
55165	CEP55	HP:0000954	Single transverse palmar crease
55165	CEP55	HP:0045025	Narrow palpebral fissure
55165	CEP55	HP:0002804	Arthrogryposis multiplex congenita
55165	CEP55	HP:0001562	Oligohydramnios
55165	CEP55	HP:0000369	Low-set ears
55165	CEP55	HP:0012300	Ureteral agenesis
55165	CEP55	HP:0000308	Microretrognathia
55165	CEP55	HP:0000476	Cystic hygroma
55165	CEP55	HP:0000463	Anteverted nares
55165	CEP55	HP:0000470	Short neck
55165	CEP55	HP:0000452	Choanal stenosis
55165	CEP55	HP:0000418	Narrow nasal ridge
55165	CEP55	HP:0000414	Bulbous nose
55165	CEP55	HP:0001762	Talipes equinovarus
55172	DNAAF2	HP:0025177	Peribronchovascular interstitial thickening
55172	DNAAF2	HP:0002566	Intestinal malrotation
55172	DNAAF2	HP:0001217	Clubbing
55172	DNAAF2	HP:0000007	Autosomal recessive inheritance
55172	DNAAF2	HP:0002643	Neonatal respiratory distress
55172	DNAAF2	HP:0000119	Abnormality of the genitourinary system
55172	DNAAF2	HP:0032543	Lithoptysis
55172	DNAAF2	HP:0031245	Productive cough
55172	DNAAF2	HP:0002011	Morphological central nervous system abnormality
55172	DNAAF2	HP:0100582	Nasal polyposis
55172	DNAAF2	HP:0005938	Abnormal respiratory motile cilium morphology
55172	DNAAF2	HP:0002119	Ventriculomegaly
55172	DNAAF2	HP:0002110	Bronchiectasis
55172	DNAAF2	HP:0008222	Female infertility
55172	DNAAF2	HP:0002257	Chronic rhinitis
55172	DNAAF2	HP:0100750	Atelectasis
55172	DNAAF2	HP:0032016	Abnormal sputum
55172	DNAAF2	HP:0011947	Respiratory tract infection
55172	DNAAF2	HP:0010772	Anomalous pulmonary venous return
55172	DNAAF2	HP:0030680	Abnormality of cardiovascular system morphology
55172	DNAAF2	HP:0000750	Delayed speech and language development
55172	DNAAF2	HP:0000924	Abnormality of the skeletal system
55172	DNAAF2	HP:0011539	Atrial situs ambiguous
55172	DNAAF2	HP:0011535	Abnormal atrial arrangement
55172	DNAAF2	HP:0030828	Wheezing
55172	DNAAF2	HP:0003251	Male infertility
55172	DNAAF2	HP:0011617	Pulmonary situs ambiguus
55172	DNAAF2	HP:0025576	Abnormal inferior vena cava morphology
55172	DNAAF2	HP:0012265	Ciliary dyskinesia
55172	DNAAF2	HP:0000238	Hydrocephalus
55172	DNAAF2	HP:0012206	Abnormal sperm motility
55172	DNAAF2	HP:0002878	Respiratory failure
55172	DNAAF2	HP:0000389	Chronic otitis media
55172	DNAAF2	HP:0006536	Airway obstruction
55172	DNAAF2	HP:0001696	Situs inversus totalis
55172	DNAAF2	HP:0000365	Hearing impairment
55172	DNAAF2	HP:0001669	Transposition of the great arteries
55172	DNAAF2	HP:0031456	Ectopic pregnancy
55172	DNAAF2	HP:0001627	Abnormal heart morphology
55172	DNAAF2	HP:0005301	Persistent left superior vena cava
55172	DNAAF2	HP:0000403	Recurrent otitis media
55172	DNAAF2	HP:0000405	Conductive hearing impairment
55172	DNAAF2	HP:0001719	Double outlet right ventricle
55172	DNAAF2	HP:0011109	Chronic sinusitis
55172	DNAAF2	HP:0011108	Recurrent sinusitis
55172	DNAAF2	HP:0001746	Asplenia
55172	DNAAF2	HP:0001748	Polysplenia
55172	DNAAF2	HP:0001742	Nasal congestion
55172	DNAAF2	HP:0005425	Recurrent sinopulmonary infections
55172	DNAAF2	HP:0011274	Recurrent mycobacterial infections
55172	DNAAF2	HP:0000510	Rod-cone dystrophy
55180	LINS1	HP:0001252	Hypotonia
55180	LINS1	HP:0001249	Intellectual disability
55180	LINS1	HP:0001263	Global developmental delay
55180	LINS1	HP:0001344	Absent speech
55180	LINS1	HP:0000007	Autosomal recessive inheritance
55180	LINS1	HP:0011800	Midface retrusion
55180	LINS1	HP:0003593	Infantile onset
55180	LINS1	HP:0000718	Aggressive behavior
55180	LINS1	HP:0000252	Microcephaly
55180	LINS1	HP:0001508	Failure to thrive
55180	LINS1	HP:0001510	Growth delay
55180	LINS1	HP:0032988	Persistent head lag
55180	LINS1	HP:0005280	Depressed nasal bridge
55181	SMG8	HP:0001263	Global developmental delay
55181	SMG8	HP:0002500	Abnormal cerebral white matter morphology
55181	SMG8	HP:0000047	Hypospadias
55181	SMG8	HP:0000007	Autosomal recessive inheritance
55181	SMG8	HP:0031298	Coronary sinus enlargement
55181	SMG8	HP:0002007	Frontal bossing
55181	SMG8	HP:0011829	Narrow philtrum
55181	SMG8	HP:0002389	Cavum septum pellucidum
55181	SMG8	HP:0004961	Pulmonary artery sling
55181	SMG8	HP:0000668	Hypodontia
55181	SMG8	HP:0004322	Short stature
55181	SMG8	HP:0000742	Self-mutilation
55181	SMG8	HP:0000958	Dry skin
55181	SMG8	HP:0000953	Hyperpigmentation of the skin
55181	SMG8	HP:0000964	Eczema
55181	SMG8	HP:0000252	Microcephaly
55181	SMG8	HP:0030051	Tip-toe gait
55181	SMG8	HP:0000365	Hearing impairment
55181	SMG8	HP:0000358	Posteriorly rotated ears
55181	SMG8	HP:0000369	Low-set ears
55181	SMG8	HP:0000343	Long philtrum
55181	SMG8	HP:0000347	Micrognathia
55181	SMG8	HP:0000319	Smooth philtrum
55181	SMG8	HP:0001655	Patent foramen ovale
55181	SMG8	HP:0001629	Ventricular septal defect
55181	SMG8	HP:0001631	Atrial septal defect
55181	SMG8	HP:0005301	Persistent left superior vena cava
55181	SMG8	HP:0000400	Macrotia
55181	SMG8	HP:0000483	Astigmatism
55181	SMG8	HP:0000486	Strabismus
55181	SMG8	HP:0012471	Thick vermilion border
55181	SMG8	HP:0012444	Brain atrophy
55181	SMG8	HP:0000448	Prominent nose
55181	SMG8	HP:0000414	Bulbous nose
55181	SMG8	HP:0000518	Cataract
55181	SMG8	HP:0000543	Optic disc pallor
55182	RNF220	HP:0001270	Motor delay
55182	RNF220	HP:0001250	Seizure
55182	RNF220	HP:0001251	Ataxia
55182	RNF220	HP:0001249	Intellectual disability
55182	RNF220	HP:0001260	Dysarthria
55182	RNF220	HP:0001258	Spastic paraplegia
55182	RNF220	HP:0001347	Hyperreflexia
55182	RNF220	HP:0033725	Thin corpus callosum
55182	RNF220	HP:0000007	Autosomal recessive inheritance
55182	RNF220	HP:0003477	Peripheral axonal neuropathy
55182	RNF220	HP:0003429	CNS hypomyelination
55182	RNF220	HP:0011463	Childhood onset
55182	RNF220	HP:0002910	Elevated hepatic transaminase
55182	RNF220	HP:0001644	Dilated cardiomyopathy
55182	RNF220	HP:0000407	Sensorineural hearing impairment
55187	VPS13D	HP:0002493	Upper motor neuron dysfunction
55187	VPS13D	HP:0002460	Distal muscle weakness
55187	VPS13D	HP:0007256	Abnormal pyramidal sign
55187	VPS13D	HP:0001272	Cerebellar atrophy
55187	VPS13D	HP:0001270	Motor delay
55187	VPS13D	HP:0001256	Intellectual disability, mild
55187	VPS13D	HP:0001250	Seizure
55187	VPS13D	HP:0001251	Ataxia
55187	VPS13D	HP:0001260	Dysarthria
55187	VPS13D	HP:0001257	Spasticity
55187	VPS13D	HP:0007340	Lower limb muscle weakness
55187	VPS13D	HP:0007338	Hypermetric saccades
55187	VPS13D	HP:0002500	Abnormal cerebral white matter morphology
55187	VPS13D	HP:0001347	Hyperreflexia
55187	VPS13D	HP:0001332	Dystonia
55187	VPS13D	HP:0000007	Autosomal recessive inheritance
55187	VPS13D	HP:0001337	Tremor
55187	VPS13D	HP:0001336	Myoclonus
55187	VPS13D	HP:0008936	Axial hypotonia
55187	VPS13D	HP:0025404	Abnormal visual fixation
55187	VPS13D	HP:0002066	Gait ataxia
55187	VPS13D	HP:0002078	Truncal ataxia
55187	VPS13D	HP:0002073	Progressive cerebellar ataxia
55187	VPS13D	HP:0002070	Limb ataxia
55187	VPS13D	HP:0003477	Peripheral axonal neuropathy
55187	VPS13D	HP:0003474	Somatic sensory dysfunction
55187	VPS13D	HP:0003487	Babinski sign
55187	VPS13D	HP:0010522	Dyslexia
55187	VPS13D	HP:0003593	Infantile onset
55187	VPS13D	HP:0002380	Fasciculations
55187	VPS13D	HP:0002366	Abnormal lower motor neuron morphology
55187	VPS13D	HP:0003693	Distal amyotrophy
55187	VPS13D	HP:0002359	Frequent falls
55187	VPS13D	HP:0002317	Unsteady gait
55187	VPS13D	HP:0010831	Impaired proprioception
55187	VPS13D	HP:0007141	Sensorimotor neuropathy
55187	VPS13D	HP:0032105	Macrosaccadic oscillations
55187	VPS13D	HP:0000640	Gaze-evoked nystagmus
55187	VPS13D	HP:0011463	Childhood onset
55187	VPS13D	HP:0011462	Young adult onset
55187	VPS13D	HP:0033051	Impaired executive functioning
55187	VPS13D	HP:0000252	Microcephaly
55187	VPS13D	HP:0000496	Abnormality of eye movement
55187	VPS13D	HP:0000473	Torticollis
55187	VPS13D	HP:0001761	Pes cavus
55187	VPS13D	HP:0000570	Abnormal saccadic eye movements
55191	NADSYN1	HP:0010958	Bilateral renal agenesis
55191	NADSYN1	HP:0000007	Autosomal recessive inheritance
55191	NADSYN1	HP:0000122	Unilateral renal agenesis
55191	NADSYN1	HP:0005999	Ureteral atresia
55191	NADSYN1	HP:0003422	Vertebral segmentation defect
55191	NADSYN1	HP:0004383	Hypoplastic left heart
55191	NADSYN1	HP:0003026	Short long bone
55191	NADSYN1	HP:0011638	Anomalous origin of left coronary artery from the pulmonary artery
55191	NADSYN1	HP:0010306	Short thorax
55191	NADSYN1	HP:0000960	Sacral dimple
55191	NADSYN1	HP:0001522	Death in infancy
55191	NADSYN1	HP:0002948	Vertebral fusion
55191	NADSYN1	HP:0001647	Bicuspid aortic valve
55191	NADSYN1	HP:0001643	Patent ductus arteriosus
55191	NADSYN1	HP:0001719	Double outlet right ventricle
55191	NADSYN1	HP:0001762	Talipes equinovarus
55193	PBRM1	HP:0003745	Sporadic
55193	PBRM1	HP:0005584	Renal cell carcinoma
55209	SETD5	HP:0001250	Seizure
55209	SETD5	HP:0001252	Hypotonia
55209	SETD5	HP:0001249	Intellectual disability
55209	SETD5	HP:0001263	Global developmental delay
55209	SETD5	HP:0002566	Intestinal malrotation
55209	SETD5	HP:0002553	Highly arched eyebrow
55209	SETD5	HP:0000047	Hypospadias
55209	SETD5	HP:0000028	Cryptorchidism
55209	SETD5	HP:0000006	Autosomal dominant inheritance
55209	SETD5	HP:0002650	Scoliosis
55209	SETD5	HP:0000193	Bifid uvula
55209	SETD5	HP:0000190	Abnormal oral frenulum morphology
55209	SETD5	HP:0001488	Bilateral ptosis
55209	SETD5	HP:0000175	Cleft palate
55209	SETD5	HP:0002714	Downturned corners of mouth
55209	SETD5	HP:0004691	2-3 toe syndactyly
55209	SETD5	HP:0002002	Deep philtrum
55209	SETD5	HP:0003307	Hyperlordosis
55209	SETD5	HP:0100559	Lower limb asymmetry
55209	SETD5	HP:0002194	Delayed gross motor development
55209	SETD5	HP:0003593	Infantile onset
55209	SETD5	HP:0010663	Abnormality of thalamus morphology
55209	SETD5	HP:0007018	Attention deficit hyperactivity disorder
55209	SETD5	HP:0011968	Feeding difficulties
55209	SETD5	HP:0002360	Sleep disturbance
55209	SETD5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
55209	SETD5	HP:0009836	Broad distal phalanx of finger
55209	SETD5	HP:0002307	Drooling
55209	SETD5	HP:0000678	Dental crowding
55209	SETD5	HP:0000664	Synophrys
55209	SETD5	HP:0031936	Delayed ability to walk
55209	SETD5	HP:0000739	Anxiety
55209	SETD5	HP:0000750	Delayed speech and language development
55209	SETD5	HP:0012718	Morphological abnormality of the gastrointestinal tract
55209	SETD5	HP:0000729	Autistic behavior
55209	SETD5	HP:0000722	Compulsive behaviors
55209	SETD5	HP:0100259	Postaxial polydactyly
55209	SETD5	HP:0000960	Sacral dimple
55209	SETD5	HP:0000294	Low anterior hairline
55209	SETD5	HP:0005105	Abnormal nasal morphology
55209	SETD5	HP:0002808	Kyphosis
55209	SETD5	HP:0000248	Brachycephaly
55209	SETD5	HP:0000219	Thin upper lip vermilion
55209	SETD5	HP:0012377	Hemianopia
55209	SETD5	HP:0000369	Low-set ears
55209	SETD5	HP:0000343	Long philtrum
55209	SETD5	HP:0000348	High forehead
55209	SETD5	HP:0000347	Micrognathia
55209	SETD5	HP:0000319	Smooth philtrum
55209	SETD5	HP:0001629	Ventricular septal defect
55209	SETD5	HP:0001627	Abnormal heart morphology
55209	SETD5	HP:0005280	Depressed nasal bridge
55209	SETD5	HP:0000483	Astigmatism
55209	SETD5	HP:0000486	Strabismus
55209	SETD5	HP:0000494	Downslanted palpebral fissures
55209	SETD5	HP:0000463	Anteverted nares
55209	SETD5	HP:0012450	Chronic constipation
55209	SETD5	HP:0000414	Bulbous nose
55209	SETD5	HP:0000431	Wide nasal bridge
55209	SETD5	HP:0001852	Sandal gap
55209	SETD5	HP:0000508	Ptosis
55209	SETD5	HP:0001830	Postaxial foot polydactyly
55209	SETD5	HP:0000582	Upslanted palpebral fissure
55209	SETD5	HP:0000581	Blepharophimosis
55209	SETD5	HP:0000568	Microphthalmia
55209	SETD5	HP:0000540	Hypermetropia
55209	SETD5	HP:0000545	Myopia
55210	ATAD3A	HP:0025116	Fetal distress
55210	ATAD3A	HP:0002465	Poor speech
55210	ATAD3A	HP:0007210	Lower limb amyotrophy
55210	ATAD3A	HP:0001298	Encephalopathy
55210	ATAD3A	HP:0001272	Cerebellar atrophy
55210	ATAD3A	HP:0001250	Seizure
55210	ATAD3A	HP:0001252	Hypotonia
55210	ATAD3A	HP:0001251	Ataxia
55210	ATAD3A	HP:0001249	Intellectual disability
55210	ATAD3A	HP:0001263	Global developmental delay
55210	ATAD3A	HP:0001257	Spasticity
55210	ATAD3A	HP:0002540	Inability to walk
55210	ATAD3A	HP:0003811	Neonatal death
55210	ATAD3A	HP:0000054	Micropenis
55210	ATAD3A	HP:0001385	Hip dysplasia
55210	ATAD3A	HP:0000034	Hydrocele testis
55210	ATAD3A	HP:0000028	Cryptorchidism
55210	ATAD3A	HP:0008872	Feeding difficulties in infancy
55210	ATAD3A	HP:0001332	Dystonia
55210	ATAD3A	HP:0000007	Autosomal recessive inheritance
55210	ATAD3A	HP:0000006	Autosomal dominant inheritance
55210	ATAD3A	HP:0002650	Scoliosis
55210	ATAD3A	HP:0001321	Cerebellar hypoplasia
55210	ATAD3A	HP:0000160	Narrow mouth
55210	ATAD3A	HP:0008936	Axial hypotonia
55210	ATAD3A	HP:0002007	Frontal bossing
55210	ATAD3A	HP:0002066	Gait ataxia
55210	ATAD3A	HP:0002064	Spastic gait
55210	ATAD3A	HP:0003477	Peripheral axonal neuropathy
55210	ATAD3A	HP:0002151	Increased serum lactate
55210	ATAD3A	HP:0002121	Generalized non-motor (absence) seizure
55210	ATAD3A	HP:0003593	Infantile onset
55210	ATAD3A	HP:0002240	Hepatomegaly
55210	ATAD3A	HP:0003535	3-Methylglutaconic aciduria
55210	ATAD3A	HP:0002299	Brittle hair
55210	ATAD3A	HP:0011968	Feeding difficulties
55210	ATAD3A	HP:0003693	Distal amyotrophy
55210	ATAD3A	HP:0002360	Sleep disturbance
55210	ATAD3A	HP:0000639	Nystagmus
55210	ATAD3A	HP:0000648	Optic atrophy
55210	ATAD3A	HP:0000609	Optic nerve hypoplasia
55210	ATAD3A	HP:0005656	Positional foot deformity
55210	ATAD3A	HP:0006989	Dysplastic corpus callosum
55210	ATAD3A	HP:0000768	Pectus carinatum
55210	ATAD3A	HP:0000750	Delayed speech and language development
55210	ATAD3A	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
55210	ATAD3A	HP:0003196	Short nose
55210	ATAD3A	HP:0003146	Hypocholesterolemia
55210	ATAD3A	HP:0000823	Delayed puberty
55210	ATAD3A	HP:0045075	Sparse eyebrow
55210	ATAD3A	HP:0000276	Long face
55210	ATAD3A	HP:0001561	Polyhydramnios
55210	ATAD3A	HP:0000348	High forehead
55210	ATAD3A	HP:0000347	Micrognathia
55210	ATAD3A	HP:0001639	Hypertrophic cardiomyopathy
55210	ATAD3A	HP:0000303	Mandibular prognathia
55210	ATAD3A	HP:0007957	Corneal opacity
55210	ATAD3A	HP:0000490	Deeply set eye
55210	ATAD3A	HP:0000463	Anteverted nares
55210	ATAD3A	HP:0001772	Talipes equinovalgus
55210	ATAD3A	HP:0000431	Wide nasal bridge
55210	ATAD3A	HP:0000518	Cataract
55210	ATAD3A	HP:0000519	Developmental cataract
55210	ATAD3A	HP:0000582	Upslanted palpebral fissure
55210	ATAD3A	HP:0000565	Esotropia
55210	ATAD3A	HP:0000545	Myopia
55212	BBS7	HP:0001162	Postaxial hand polydactyly
55212	BBS7	HP:0001249	Intellectual disability
55212	BBS7	HP:0006101	Finger syndactyly
55212	BBS7	HP:0008736	Hypoplasia of penis
55212	BBS7	HP:0008724	Hypoplasia of the ovary
55212	BBS7	HP:0001395	Hepatic fibrosis
55212	BBS7	HP:0000028	Cryptorchidism
55212	BBS7	HP:0000007	Autosomal recessive inheritance
55212	BBS7	HP:0000003	Multicystic kidney dysplasia
55212	BBS7	HP:0000160	Narrow mouth
55212	BBS7	HP:0000135	Hypogonadism
55212	BBS7	HP:0000100	Nephrotic syndrome
55212	BBS7	HP:0004691	2-3 toe syndactyly
55212	BBS7	HP:0010442	Polydactyly
55212	BBS7	HP:0002167	Abnormality of speech or vocalization
55212	BBS7	HP:0002230	Generalized hirsutism
55212	BBS7	HP:0010747	Medial flaring of the eyebrow
55212	BBS7	HP:0000639	Nystagmus
55212	BBS7	HP:0004322	Short stature
55212	BBS7	HP:0000822	Hypertension
55212	BBS7	HP:0003202	Skeletal muscle atrophy
55212	BBS7	HP:0100259	Postaxial polydactyly
55212	BBS7	HP:0000272	Malar flattening
55212	BBS7	HP:0030084	Clinodactyly
55212	BBS7	HP:0001513	Obesity
55212	BBS7	HP:0000365	Hearing impairment
55212	BBS7	HP:0000368	Low-set, posteriorly rotated ears
55212	BBS7	HP:0000316	Hypertelorism
55212	BBS7	HP:0005280	Depressed nasal bridge
55212	BBS7	HP:0000494	Downslanted palpebral fissures
55212	BBS7	HP:0000490	Deeply set eye
55212	BBS7	HP:0000470	Short neck
55212	BBS7	HP:0000426	Prominent nasal bridge
55212	BBS7	HP:0000510	Rod-cone dystrophy
55212	BBS7	HP:0000512	Abnormal electroretinogram
55212	BBS7	HP:0000580	Pigmentary retinopathy
55213	RCBTB1	HP:0001256	Intellectual disability, mild
55213	RCBTB1	HP:0000007	Autosomal recessive inheritance
55213	RCBTB1	HP:0007663	Reduced visual acuity
55213	RCBTB1	HP:0008209	Premature ovarian insufficiency
55213	RCBTB1	HP:0003581	Adult onset
55213	RCBTB1	HP:0002206	Pulmonary fibrosis
55213	RCBTB1	HP:0003621	Juvenile onset
55213	RCBTB1	HP:0000853	Goiter
55213	RCBTB1	HP:0000869	Secondary amenorrhea
55213	RCBTB1	HP:0000556	Retinal dystrophy
55214	P3H2	HP:0001132	Lens subluxation
55214	P3H2	HP:0100832	Vitreous floaters
55214	P3H2	HP:0000007	Autosomal recessive inheritance
55214	P3H2	HP:0032037	Mildly reduced visual acuity
55214	P3H2	HP:0200071	Peripheral vitreoretinal degeneration
55214	P3H2	HP:0011463	Childhood onset
55214	P3H2	HP:0011003	High myopia
55214	P3H2	HP:0007992	Lattice retinal degeneration
55214	P3H2	HP:0000518	Cataract
55214	P3H2	HP:0000541	Retinal detachment
55215	FANCI	HP:0001172	Abnormal thumb morphology
55215	FANCI	HP:0001199	Triphalangeal thumb
55215	FANCI	HP:0008572	External ear malformation
55215	FANCI	HP:0002414	Spina bifida
55215	FANCI	HP:0001274	Agenesis of corpus callosum
55215	FANCI	HP:0001249	Intellectual disability
55215	FANCI	HP:0001263	Global developmental delay
55215	FANCI	HP:0002575	Tracheoesophageal fistula
55215	FANCI	HP:0006101	Finger syndactyly
55215	FANCI	HP:0007400	Irregular hyperpigmentation
55215	FANCI	HP:0100867	Duodenal stenosis
55215	FANCI	HP:0008678	Renal hypoplasia/aplasia
55215	FANCI	HP:0000089	Renal hypoplasia
55215	FANCI	HP:0000083	Renal insufficiency
55215	FANCI	HP:0000085	Horseshoe kidney
55215	FANCI	HP:0001392	Abnormality of the liver
55215	FANCI	HP:0000076	Vesicoureteral reflux
55215	FANCI	HP:0000079	Abnormality of the urinary system
55215	FANCI	HP:0000072	Hydroureter
55215	FANCI	HP:0012041	Decreased fertility in males
55215	FANCI	HP:0000047	Hypospadias
55215	FANCI	HP:0001347	Hyperreflexia
55215	FANCI	HP:0000035	Abnormal testis morphology
55215	FANCI	HP:0000028	Cryptorchidism
55215	FANCI	HP:0000027	Azoospermia
55215	FANCI	HP:0007565	Multiple cafe-au-lait spots
55215	FANCI	HP:0001331	Absent septum pellucidum
55215	FANCI	HP:0002664	Neoplasm
55215	FANCI	HP:0000010	Recurrent urinary tract infections
55215	FANCI	HP:0000007	Autosomal recessive inheritance
55215	FANCI	HP:0002650	Scoliosis
55215	FANCI	HP:0000175	Cleft palate
55215	FANCI	HP:0000135	Hypogonadism
55215	FANCI	HP:0006265	Aplasia/Hypoplasia of fingers
55215	FANCI	HP:0000130	Abnormality of the uterus
55215	FANCI	HP:0002023	Anal atresia
55215	FANCI	HP:0002007	Frontal bossing
55215	FANCI	HP:0100542	Abnormal localization of kidney
55215	FANCI	HP:0100587	Abnormal preputium morphology
55215	FANCI	HP:0010469	Absent testis
55215	FANCI	HP:0002119	Ventriculomegaly
55215	FANCI	HP:0002245	Meckel diverticulum
55215	FANCI	HP:0002251	Aganglionic megacolon
55215	FANCI	HP:0100760	Clubbing of toes
55215	FANCI	HP:0001053	Hypopigmented skin patches
55215	FANCI	HP:0001000	Abnormality of skin pigmentation
55215	FANCI	HP:0009777	Absent thumb
55215	FANCI	HP:0009778	Short thumb
55215	FANCI	HP:0002308	Chiari malformation
55215	FANCI	HP:0005528	Bone marrow hypocellularity
55215	FANCI	HP:0004209	Clinodactyly of the 5th finger
55215	FANCI	HP:0005522	Pyridoxine-responsive sideroblastic anemia
55215	FANCI	HP:0006824	Cranial nerve paralysis
55215	FANCI	HP:0000639	Nystagmus
55215	FANCI	HP:0000609	Optic nerve hypoplasia
55215	FANCI	HP:0001903	Anemia
55215	FANCI	HP:0010034	Short 1st metacarpal
55215	FANCI	HP:0012639	Abnormal nervous system morphology
55215	FANCI	HP:0004325	Decreased body weight
55215	FANCI	HP:0004322	Short stature
55215	FANCI	HP:0030680	Abnormality of cardiovascular system morphology
55215	FANCI	HP:0003022	Hypoplasia of the ulna
55215	FANCI	HP:0004349	Reduced bone mineral density
55215	FANCI	HP:0012745	Short palpebral fissure
55215	FANCI	HP:0100026	Arteriovenous malformation
55215	FANCI	HP:0000864	Abnormality of the hypothalamus-pituitary axis
55215	FANCI	HP:0000813	Bicornuate uterus
55215	FANCI	HP:0000821	Hypothyroidism
55215	FANCI	HP:0000824	Decreased response to growth hormone stimulation test
55215	FANCI	HP:0010293	Aplasia/Hypoplasia of the uvula
55215	FANCI	HP:0040071	Abnormal morphology of ulna
55215	FANCI	HP:0003220	Abnormality of chromosome stability
55215	FANCI	HP:0003221	Chromosomal breakage induced by crosslinking agents
55215	FANCI	HP:0000980	Pallor
55215	FANCI	HP:0000957	Cafe-au-lait spot
55215	FANCI	HP:0008053	Aplasia/Hypoplasia of the iris
55215	FANCI	HP:0000286	Epicanthus
55215	FANCI	HP:0000268	Dolichocephaly
55215	FANCI	HP:0002817	Abnormality of the upper limb
55215	FANCI	HP:0002827	Hip dislocation
55215	FANCI	HP:0002823	Abnormality of femur morphology
55215	FANCI	HP:0000238	Hydrocephalus
55215	FANCI	HP:0000252	Microcephaly
55215	FANCI	HP:0012210	Abnormal renal morphology
55215	FANCI	HP:0000218	High palate
55215	FANCI	HP:0001562	Oligohydramnios
55215	FANCI	HP:0001537	Umbilical hernia
55215	FANCI	HP:0002863	Myelodysplasia
55215	FANCI	HP:0030048	Colpocephaly
55215	FANCI	HP:0001511	Intrauterine growth retardation
55215	FANCI	HP:0001510	Growth delay
55215	FANCI	HP:0006501	Aplasia/Hypoplasia of the radius
55215	FANCI	HP:0007874	Almond-shaped palpebral fissure
55215	FANCI	HP:0002949	Fused cervical vertebrae
55215	FANCI	HP:0000365	Hearing impairment
55215	FANCI	HP:0000364	Hearing abnormality
55215	FANCI	HP:0001671	Abnormal cardiac septum morphology
55215	FANCI	HP:0000340	Sloping forehead
55215	FANCI	HP:0001679	Abnormal aortic morphology
55215	FANCI	HP:0000347	Micrognathia
55215	FANCI	HP:0000316	Hypertelorism
55215	FANCI	HP:0001646	Abnormal aortic valve morphology
55215	FANCI	HP:0001643	Patent ductus arteriosus
55215	FANCI	HP:0000325	Triangular face
55215	FANCI	HP:0002984	Hypoplasia of the radius
55215	FANCI	HP:0000324	Facial asymmetry
55215	FANCI	HP:0001655	Patent foramen ovale
55215	FANCI	HP:0001629	Ventricular septal defect
55215	FANCI	HP:0001639	Hypertrophic cardiomyopathy
55215	FANCI	HP:0001636	Tetralogy of Fallot
55215	FANCI	HP:0001631	Atrial septal defect
55215	FANCI	HP:0005344	Abnormal carotid artery morphology
55215	FANCI	HP:0000405	Conductive hearing impairment
55215	FANCI	HP:0000483	Astigmatism
55215	FANCI	HP:0000486	Strabismus
55215	FANCI	HP:0000478	Abnormality of the eye
55215	FANCI	HP:0000492	Abnormal eyelid morphology
55215	FANCI	HP:0000470	Short neck
55215	FANCI	HP:0001770	Toe syndactyly
55215	FANCI	HP:0001763	Pes planus
55215	FANCI	HP:0000453	Choanal atresia
55215	FANCI	HP:0001760	Abnormal foot morphology
55215	FANCI	HP:0000518	Cataract
55215	FANCI	HP:0000520	Proptosis
55215	FANCI	HP:0001824	Weight loss
55215	FANCI	HP:0000508	Ptosis
55215	FANCI	HP:0000505	Visual impairment
55215	FANCI	HP:0000504	Abnormality of vision
55215	FANCI	HP:0000582	Upslanted palpebral fissure
55215	FANCI	HP:0000568	Microphthalmia
55215	FANCI	HP:0001871	Abnormality of blood and blood-forming tissues
55215	FANCI	HP:0001882	Leukopenia
55215	FANCI	HP:0001873	Thrombocytopenia
55215	FANCI	HP:0000545	Myopia
55215	FANCI	HP:0001875	Neutropenia
55217	TMLHE	HP:0001250	Seizure
55217	TMLHE	HP:0001249	Intellectual disability
55217	TMLHE	HP:0000160	Narrow mouth
55217	TMLHE	HP:0001419	X-linked recessive inheritance
55217	TMLHE	HP:0002003	Large forehead
55217	TMLHE	HP:0002376	Developmental regression
55217	TMLHE	HP:0000750	Delayed speech and language development
55217	TMLHE	HP:0000717	Autism
55217	TMLHE	HP:0001513	Obesity
55217	TMLHE	HP:0000322	Short philtrum
55217	TMLHE	HP:0000430	Underdeveloped nasal alae
55217	TMLHE	HP:0000508	Ptosis
55229	PANK4	HP:0010924	Posterior cortical cataract
55229	PANK4	HP:0000006	Autosomal dominant inheritance
55229	PANK4	HP:0007663	Reduced visual acuity
55229	PANK4	HP:0003621	Juvenile onset
55229	PANK4	HP:0000639	Nystagmus
55229	PANK4	HP:0011463	Childhood onset
55240	STEAP3	HP:0032231	Hypochromia
55240	STEAP3	HP:0000027	Azoospermia
55240	STEAP3	HP:0000006	Autosomal dominant inheritance
55240	STEAP3	HP:0012134	Dysplastic erythropoesis
55240	STEAP3	HP:0000135	Hypogonadism
55240	STEAP3	HP:0001433	Hepatosplenomegaly
55240	STEAP3	HP:0003452	Increased serum iron
55240	STEAP3	HP:0003593	Infantile onset
55240	STEAP3	HP:0002240	Hepatomegaly
55240	STEAP3	HP:0004823	Anisopoikilocytosis
55240	STEAP3	HP:0025066	Decreased mean corpuscular volume
55240	STEAP3	HP:0001903	Anemia
55240	STEAP3	HP:0011463	Childhood onset
55240	STEAP3	HP:0004447	Poikilocytosis
55240	STEAP3	HP:0000864	Abnormality of the hypothalamus-pituitary axis
55240	STEAP3	HP:0000846	Adrenal insufficiency
55240	STEAP3	HP:0000821	Hypothyroidism
55240	STEAP3	HP:0003281	Increased circulating ferritin concentration
55240	STEAP3	HP:0000980	Pallor
55240	STEAP3	HP:0000957	Cafe-au-lait spot
55240	STEAP3	HP:0001510	Growth delay
55240	STEAP3	HP:0012378	Fatigue
55240	STEAP3	HP:0002910	Elevated hepatic transaminase
55240	STEAP3	HP:0012463	Elevated transferrin saturation
55240	STEAP3	HP:0012464	Decreased transferrin saturation
55240	STEAP3	HP:0012465	Elevated hepatic iron concentration
55240	STEAP3	HP:0001744	Splenomegaly
55240	STEAP3	HP:0001896	Reticulocytopenia
55243	KIRREL1	HP:0000097	Focal segmental glomerulosclerosis
55243	KIRREL1	HP:0000093	Proteinuria
55243	KIRREL1	HP:0000007	Autosomal recessive inheritance
55243	KIRREL1	HP:0031266	Podocyte foot process effacement
55243	KIRREL1	HP:0003621	Juvenile onset
55243	KIRREL1	HP:0011463	Childhood onset
55243	KIRREL1	HP:0012588	Steroid-resistant nephrotic syndrome
55243	KIRREL1	HP:0012579	Minimal change glomerulonephritis
55243	KIRREL1	HP:0012574	Mesangial hypercellularity
55249	YY1AP1	HP:0001156	Brachydactyly
55249	YY1AP1	HP:0001159	Syndactyly
55249	YY1AP1	HP:0100817	Renovascular hypertension
55249	YY1AP1	HP:0001249	Intellectual disability
55249	YY1AP1	HP:0001328	Specific learning disability
55249	YY1AP1	HP:0002659	Increased susceptibility to fractures
55249	YY1AP1	HP:0000007	Autosomal recessive inheritance
55249	YY1AP1	HP:0002757	Recurrent fractures
55249	YY1AP1	HP:0100545	Arterial stenosis
55249	YY1AP1	HP:0100546	Carotid artery stenosis
55249	YY1AP1	HP:0004279	Short palm
55249	YY1AP1	HP:0006889	Intellectual disability, borderline
55249	YY1AP1	HP:0001920	Renal artery stenosis
55249	YY1AP1	HP:0004325	Decreased body weight
55249	YY1AP1	HP:0000822	Hypertension
55249	YY1AP1	HP:0040019	Finger clinodactyly
55249	YY1AP1	HP:0005145	Coronary artery stenosis
55249	YY1AP1	HP:0001647	Bicuspid aortic valve
55249	YY1AP1	HP:0001643	Patent ductus arteriosus
55249	YY1AP1	HP:0001659	Aortic regurgitation
55249	YY1AP1	HP:0001629	Ventricular septal defect
55250	ELP2	HP:0002421	Poor head control
55250	ELP2	HP:0001249	Intellectual disability
55250	ELP2	HP:0001264	Spastic diplegia
55250	ELP2	HP:0001266	Choreoathetosis
55250	ELP2	HP:0001263	Global developmental delay
55250	ELP2	HP:0001347	Hyperreflexia
55250	ELP2	HP:0001344	Absent speech
55250	ELP2	HP:0000007	Autosomal recessive inheritance
55250	ELP2	HP:0008936	Axial hypotonia
55250	ELP2	HP:0011856	Pica
55250	ELP2	HP:0003593	Infantile onset
55250	ELP2	HP:0003577	Congenital onset
55250	ELP2	HP:0100716	Self-injurious behavior
55250	ELP2	HP:0003676	Progressive
55250	ELP2	HP:0004322	Short stature
55250	ELP2	HP:0000750	Delayed speech and language development
55250	ELP2	HP:0000718	Aggressive behavior
55252	ASXL2	HP:0025104	Capillary malformation
55252	ASXL2	HP:0010952	Mild fetal ventriculomegaly
55252	ASXL2	HP:0001250	Seizure
55252	ASXL2	HP:0001252	Hypotonia
55252	ASXL2	HP:0001249	Intellectual disability
55252	ASXL2	HP:0001263	Global developmental delay
55252	ASXL2	HP:0007413	Nevus flammeus of the forehead
55252	ASXL2	HP:0002553	Highly arched eyebrow
55252	ASXL2	HP:0002509	Limb hypertonia
55252	ASXL2	HP:0008872	Feeding difficulties in infancy
55252	ASXL2	HP:0006191	Deep palmar crease
55252	ASXL2	HP:0000006	Autosomal dominant inheritance
55252	ASXL2	HP:0002650	Scoliosis
55252	ASXL2	HP:0000122	Unilateral renal agenesis
55252	ASXL2	HP:0002057	Prominent glabella
55252	ASXL2	HP:0004602	Cervical C2/C3 vertebral fusion
55252	ASXL2	HP:0002119	Ventriculomegaly
55252	ASXL2	HP:0003577	Congenital onset
55252	ASXL2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
55252	ASXL2	HP:0001943	Hypoglycemia
55252	ASXL2	HP:0010049	Short metacarpal
55252	ASXL2	HP:0000664	Synophrys
55252	ASXL2	HP:0005616	Accelerated skeletal maturation
55252	ASXL2	HP:0000750	Delayed speech and language development
55252	ASXL2	HP:0034295	Reduced cerebral white matter volume
55252	ASXL2	HP:0000998	Hypertrichosis
55252	ASXL2	HP:0000939	Osteoporosis
55252	ASXL2	HP:0000286	Epicanthus
55252	ASXL2	HP:0000278	Retrognathia
55252	ASXL2	HP:0000256	Macrocephaly
55252	ASXL2	HP:0000276	Long face
55252	ASXL2	HP:0002808	Kyphosis
55252	ASXL2	HP:0000219	Thin upper lip vermilion
55252	ASXL2	HP:0001511	Intrauterine growth retardation
55252	ASXL2	HP:0000378	Cupped ear
55252	ASXL2	HP:0000396	Overfolded helix
55252	ASXL2	HP:0000358	Posteriorly rotated ears
55252	ASXL2	HP:0000369	Low-set ears
55252	ASXL2	HP:0000316	Hypertelorism
55252	ASXL2	HP:0001643	Patent ductus arteriosus
55252	ASXL2	HP:0001631	Atrial septal defect
55252	ASXL2	HP:0000455	Broad nasal tip
55252	ASXL2	HP:0000527	Long eyelashes
55252	ASXL2	HP:0000520	Proptosis
55252	ASXL2	HP:0000508	Ptosis
55252	ASXL2	HP:0012520	Dilation of Virchow-Robin spaces
55262	TRAPPC14	HP:0010864	Intellectual disability, severe
55262	TRAPPC14	HP:0001274	Agenesis of corpus callosum
55262	TRAPPC14	HP:0001249	Intellectual disability
55262	TRAPPC14	HP:0001263	Global developmental delay
55262	TRAPPC14	HP:0007333	Hypoplasia of the frontal lobes
55262	TRAPPC14	HP:0000076	Vesicoureteral reflux
55262	TRAPPC14	HP:0001347	Hyperreflexia
55262	TRAPPC14	HP:0000007	Autosomal recessive inheritance
55262	TRAPPC14	HP:0001302	Pachygyria
55262	TRAPPC14	HP:0000122	Unilateral renal agenesis
55262	TRAPPC14	HP:0002079	Hypoplasia of the corpus callosum
55262	TRAPPC14	HP:0002144	Tethered cord
55262	TRAPPC14	HP:0002119	Ventriculomegaly
55262	TRAPPC14	HP:0003577	Congenital onset
55262	TRAPPC14	HP:0002282	Gray matter heterotopia
55262	TRAPPC14	HP:0007018	Attention deficit hyperactivity disorder
55262	TRAPPC14	HP:0004322	Short stature
55262	TRAPPC14	HP:0000750	Delayed speech and language development
55262	TRAPPC14	HP:0011451	Primary microcephaly
55262	TRAPPC14	HP:0003103	Abnormal cortical bone morphology
55262	TRAPPC14	HP:0000252	Microcephaly
55262	TRAPPC14	HP:0000219	Thin upper lip vermilion
55262	TRAPPC14	HP:0001510	Growth delay
55262	TRAPPC14	HP:0000340	Sloping forehead
55262	TRAPPC14	HP:0000582	Upslanted palpebral fissure
55275	VPS53	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
55275	VPS53	HP:0001276	Hypertonia
55275	VPS53	HP:0001272	Cerebellar atrophy
55275	VPS53	HP:0001249	Intellectual disability
55275	VPS53	HP:0001263	Global developmental delay
55275	VPS53	HP:0001257	Spasticity
55275	VPS53	HP:0007380	Facial telangiectasia
55275	VPS53	HP:0002510	Spastic tetraplegia
55275	VPS53	HP:0001371	Flexion contracture
55275	VPS53	HP:0000007	Autosomal recessive inheritance
55275	VPS53	HP:0001336	Myoclonus
55275	VPS53	HP:0002650	Scoliosis
55275	VPS53	HP:0001319	Neonatal hypotonia
55275	VPS53	HP:0002079	Hypoplasia of the corpus callosum
55275	VPS53	HP:0002059	Cerebral atrophy
55275	VPS53	HP:0002119	Ventriculomegaly
55275	VPS53	HP:0002187	Intellectual disability, profound
55275	VPS53	HP:0002179	Opisthotonus
55275	VPS53	HP:0003593	Infantile onset
55275	VPS53	HP:0009748	Large earlobe
55275	VPS53	HP:0003676	Progressive
55275	VPS53	HP:0000648	Optic atrophy
55275	VPS53	HP:0011344	Severe global developmental delay
55275	VPS53	HP:0004322	Short stature
55275	VPS53	HP:0000737	Irritability
55275	VPS53	HP:0003196	Short nose
55275	VPS53	HP:0000939	Osteoporosis
55275	VPS53	HP:0000286	Epicanthus
55275	VPS53	HP:0000253	Progressive microcephaly
55275	VPS53	HP:0000252	Microcephaly
55275	VPS53	HP:0001508	Failure to thrive
55275	VPS53	HP:0000341	Narrow forehead
55275	VPS53	HP:0032792	Tonic seizure
55275	VPS53	HP:0000347	Micrognathia
55275	VPS53	HP:0032794	Myoclonic seizure
55275	VPS53	HP:0000486	Strabismus
55275	VPS53	HP:0012469	Infantile spasms
55275	VPS53	HP:0000445	Wide nose
55275	VPS53	HP:0005484	Secondary microcephaly
55278	QRSL1	HP:0003811	Neonatal death
55278	QRSL1	HP:0000007	Autosomal recessive inheritance
55278	QRSL1	HP:0001410	Decreased liver function
55278	QRSL1	HP:0008163	Decreased circulating cortisol level
55278	QRSL1	HP:0011924	Decreased activity of mitochondrial complex III
55278	QRSL1	HP:0011923	Decreased activity of mitochondrial complex I
55278	QRSL1	HP:0008347	Decreased activity of mitochondrial complex IV
55278	QRSL1	HP:0001943	Hypoglycemia
55278	QRSL1	HP:0001903	Anemia
55278	QRSL1	HP:0003128	Lactic acidosis
55278	QRSL1	HP:0003236	Elevated circulating creatine kinase concentration
55278	QRSL1	HP:0001522	Death in infancy
55278	QRSL1	HP:0001511	Intrauterine growth retardation
55278	QRSL1	HP:0000365	Hearing impairment
55278	QRSL1	HP:0001622	Premature birth
55278	QRSL1	HP:0001639	Hypertrophic cardiomyopathy
55278	QRSL1	HP:0001790	Nonimmune hydrops fetalis
55280	CWF19L1	HP:0002470	Nonprogressive cerebellar ataxia
55280	CWF19L1	HP:0001272	Cerebellar atrophy
55280	CWF19L1	HP:0001274	Agenesis of corpus callosum
55280	CWF19L1	HP:0001256	Intellectual disability, mild
55280	CWF19L1	HP:0001252	Hypotonia
55280	CWF19L1	HP:0001251	Ataxia
55280	CWF19L1	HP:0001249	Intellectual disability
55280	CWF19L1	HP:0001260	Dysarthria
55280	CWF19L1	HP:0001263	Global developmental delay
55280	CWF19L1	HP:0001350	Slurred speech
55280	CWF19L1	HP:0001347	Hyperreflexia
55280	CWF19L1	HP:0001332	Dystonia
55280	CWF19L1	HP:0000007	Autosomal recessive inheritance
55280	CWF19L1	HP:0001310	Dysmetria
55280	CWF19L1	HP:0001320	Cerebellar vermis hypoplasia
55280	CWF19L1	HP:0001321	Cerebellar hypoplasia
55280	CWF19L1	HP:0008947	Infantile muscular hypotonia
55280	CWF19L1	HP:0002080	Intention tremor
55280	CWF19L1	HP:0002066	Gait ataxia
55280	CWF19L1	HP:0002078	Truncal ataxia
55280	CWF19L1	HP:0002070	Limb ataxia
55280	CWF19L1	HP:0003388	Easy fatigability
55280	CWF19L1	HP:0003487	Babinski sign
55280	CWF19L1	HP:0002136	Broad-based gait
55280	CWF19L1	HP:0009617	Abnormality of the distal phalanx of the thumb
55280	CWF19L1	HP:0003593	Infantile onset
55280	CWF19L1	HP:0003577	Congenital onset
55280	CWF19L1	HP:0002359	Frequent falls
55280	CWF19L1	HP:0002342	Intellectual disability, moderate
55280	CWF19L1	HP:0003677	Slowly progressive
55280	CWF19L1	HP:0002317	Unsteady gait
55280	CWF19L1	HP:0002312	Clumsiness
55280	CWF19L1	HP:0000657	Oculomotor apraxia
55280	CWF19L1	HP:0000664	Synophrys
55280	CWF19L1	HP:0000666	Horizontal nystagmus
55280	CWF19L1	HP:0000750	Delayed speech and language development
55280	CWF19L1	HP:0011463	Childhood onset
55280	CWF19L1	HP:0040196	Mild microcephaly
55280	CWF19L1	HP:0012389	Appendicular hypotonia
55280	CWF19L1	HP:0031435	Monotonic speech
55280	CWF19L1	HP:0000486	Strabismus
55280	CWF19L1	HP:0000574	Thick eyebrow
55294	FBXW7	HP:0001250	Seizure
55294	FBXW7	HP:0001252	Hypotonia
55294	FBXW7	HP:0001251	Ataxia
55294	FBXW7	HP:0001249	Intellectual disability
55294	FBXW7	HP:0001263	Global developmental delay
55294	FBXW7	HP:0008751	Laryngeal cleft
55294	FBXW7	HP:0000028	Cryptorchidism
55294	FBXW7	HP:0001328	Specific learning disability
55294	FBXW7	HP:0000006	Autosomal dominant inheritance
55294	FBXW7	HP:0002020	Gastroesophageal reflux
55294	FBXW7	HP:0002019	Constipation
55294	FBXW7	HP:0100704	Cerebral visual impairment
55294	FBXW7	HP:0011968	Feeding difficulties
55294	FBXW7	HP:0002376	Developmental regression
55294	FBXW7	HP:0000750	Delayed speech and language development
55294	FBXW7	HP:0000256	Macrocephaly
55294	FBXW7	HP:0000252	Microcephaly
55294	FBXW7	HP:0006532	Recurrent pneumonia
55294	FBXW7	HP:0000483	Astigmatism
55294	FBXW7	HP:0000486	Strabismus
55294	FBXW7	HP:0012443	Abnormality of brain morphology
55294	FBXW7	HP:0000410	Mixed hearing impairment
55294	FBXW7	HP:0001875	Neutropenia
55315	SLC29A3	HP:0003765	Psoriasiform dermatitis
55315	SLC29A3	HP:0001291	Abnormal cranial nerve morphology
55315	SLC29A3	HP:0001256	Intellectual disability, mild
55315	SLC29A3	HP:0001249	Intellectual disability
55315	SLC29A3	HP:0002594	Pancreatic hypoplasia
55315	SLC29A3	HP:0008734	Decreased testicular size
55315	SLC29A3	HP:0025289	Cervical lymphadenopathy
55315	SLC29A3	HP:0007380	Facial telangiectasia
55315	SLC29A3	HP:0002514	Cerebral calcification
55315	SLC29A3	HP:0000077	Abnormality of the kidney
55315	SLC29A3	HP:0000054	Micropenis
55315	SLC29A3	HP:0001347	Hyperreflexia
55315	SLC29A3	HP:0000027	Azoospermia
55315	SLC29A3	HP:0000007	Autosomal recessive inheritance
55315	SLC29A3	HP:0002619	Varicose veins
55315	SLC29A3	HP:0000141	Amenorrhea
55315	SLC29A3	HP:0000135	Hypogonadism
55315	SLC29A3	HP:0002797	Osteolysis
55315	SLC29A3	HP:0002757	Recurrent fractures
55315	SLC29A3	HP:0001433	Hepatosplenomegaly
55315	SLC29A3	HP:0000105	Enlarged kidney
55315	SLC29A3	HP:0002750	Delayed skeletal maturation
55315	SLC29A3	HP:0002716	Lymphadenopathy
55315	SLC29A3	HP:0002024	Malabsorption
55315	SLC29A3	HP:0003301	Irregular vertebral endplates
55315	SLC29A3	HP:0100534	Episcleritis
55315	SLC29A3	HP:0033190	Hypertrichotic hyperpigmented patch
55315	SLC29A3	HP:0002092	Pulmonary arterial hypertension
55315	SLC29A3	HP:0002155	Hypertriglyceridemia
55315	SLC29A3	HP:0002110	Bronchiectasis
55315	SLC29A3	HP:0100490	Camptodactyly of finger
55315	SLC29A3	HP:0002240	Hepatomegaly
55315	SLC29A3	HP:0002257	Chronic rhinitis
55315	SLC29A3	HP:0003565	Elevated erythrocyte sedimentation rate
55315	SLC29A3	HP:0100776	Recurrent pharyngitis
55315	SLC29A3	HP:0100790	Hernia
55315	SLC29A3	HP:0100727	Histiocytosis
55315	SLC29A3	HP:0002293	Alopecia of scalp
55315	SLC29A3	HP:0002376	Developmental regression
55315	SLC29A3	HP:0100651	Type I diabetes mellitus
55315	SLC29A3	HP:0100670	Coarse metaphyseal trabecularization
55315	SLC29A3	HP:0001084	Corneal arcus
55315	SLC29A3	HP:0008479	Hypoplastic vertebral bodies
55315	SLC29A3	HP:0100694	Tibial torsion
55315	SLC29A3	HP:0000639	Nystagmus
55315	SLC29A3	HP:0000648	Optic atrophy
55315	SLC29A3	HP:0001945	Fever
55315	SLC29A3	HP:0001954	Recurrent fever
55315	SLC29A3	HP:0001935	Microcytic anemia
55315	SLC29A3	HP:0000682	Abnormal dental enamel morphology
55315	SLC29A3	HP:0000684	Delayed eruption of teeth
55315	SLC29A3	HP:0004322	Short stature
55315	SLC29A3	HP:0000771	Gynecomastia
55315	SLC29A3	HP:0012724	Upper eyelid edema
55315	SLC29A3	HP:0009183	Joint contracture of the 5th finger
55315	SLC29A3	HP:0012785	Flexion contracture of finger
55315	SLC29A3	HP:0009125	Lipodystrophy
55315	SLC29A3	HP:0000926	Platyspondyly
55315	SLC29A3	HP:0004493	Craniofacial hyperostosis
55315	SLC29A3	HP:0100324	Scleroderma
55315	SLC29A3	HP:0000819	Diabetes mellitus
55315	SLC29A3	HP:0000815	Hypergonadotropic hypogonadism
55315	SLC29A3	HP:0000824	Decreased response to growth hormone stimulation test
55315	SLC29A3	HP:0000823	Delayed puberty
55315	SLC29A3	HP:0005830	Flexion contracture of toe
55315	SLC29A3	HP:0000998	Hypertrichosis
55315	SLC29A3	HP:0000953	Hyperpigmentation of the skin
55315	SLC29A3	HP:0000944	Abnormal metaphysis morphology
55315	SLC29A3	HP:0008064	Ichthyosis
55315	SLC29A3	HP:0008065	Aplasia/Hypoplasia of the skin
55315	SLC29A3	HP:0011670	Left superior vena cava draining to coronary sinus
55315	SLC29A3	HP:0000278	Retrognathia
55315	SLC29A3	HP:0000293	Full cheeks
55315	SLC29A3	HP:0001596	Alopecia
55315	SLC29A3	HP:0000256	Macrocephaly
55315	SLC29A3	HP:0030084	Clinodactyly
55315	SLC29A3	HP:0000238	Hydrocephalus
55315	SLC29A3	HP:0000212	Gingival overgrowth
55315	SLC29A3	HP:0000204	Cleft upper lip
55315	SLC29A3	HP:0030053	Stiff skin
55315	SLC29A3	HP:0012385	Camptodactyly
55315	SLC29A3	HP:0011025	Abnormal cardiovascular system physiology
55315	SLC29A3	HP:0005200	Retroperitoneal fibrosis
55315	SLC29A3	HP:0000365	Hearing impairment
55315	SLC29A3	HP:0011001	Increased bone mineral density
55315	SLC29A3	HP:0000316	Hypertelorism
55315	SLC29A3	HP:0001643	Patent ductus arteriosus
55315	SLC29A3	HP:0001642	Pulmonic stenosis
55315	SLC29A3	HP:0002987	Elbow flexion contracture
55315	SLC29A3	HP:0001629	Ventricular septal defect
55315	SLC29A3	HP:0001640	Cardiomegaly
55315	SLC29A3	HP:0001631	Atrial septal defect
55315	SLC29A3	HP:0001634	Mitral valve prolapse
55315	SLC29A3	HP:0000407	Sensorineural hearing impairment
55315	SLC29A3	HP:0000494	Downslanted palpebral fissures
55315	SLC29A3	HP:0000463	Anteverted nares
55315	SLC29A3	HP:0001763	Pes planus
55315	SLC29A3	HP:0001744	Splenomegaly
55315	SLC29A3	HP:0000520	Proptosis
55315	SLC29A3	HP:0001822	Hallux valgus
55315	SLC29A3	HP:0001838	Rocker bottom foot
55315	SLC29A3	HP:0000534	Abnormal eyebrow morphology
55325	UFSP2	HP:0001252	Hypotonia
55325	UFSP2	HP:0001249	Intellectual disability
55325	UFSP2	HP:0001263	Global developmental delay
55325	UFSP2	HP:0001216	Delayed ossification of carpal bones
55325	UFSP2	HP:0002515	Waddling gait
55325	UFSP2	HP:0002509	Limb hypertonia
55325	UFSP2	HP:0001385	Hip dysplasia
55325	UFSP2	HP:0008897	Postnatal growth retardation
55325	UFSP2	HP:0008833	Irregular acetabular roof
55325	UFSP2	HP:0008783	Wide proximal femoral metaphysis
55325	UFSP2	HP:0001344	Absent speech
55325	UFSP2	HP:0000007	Autosomal recessive inheritance
55325	UFSP2	HP:0000006	Autosomal dominant inheritance
55325	UFSP2	HP:0002650	Scoliosis
55325	UFSP2	HP:0001321	Cerebellar hypoplasia
55325	UFSP2	HP:0002758	Osteoarthritis
55325	UFSP2	HP:0002750	Delayed skeletal maturation
55325	UFSP2	HP:0002069	Bilateral tonic-clonic seizure
55325	UFSP2	HP:0003370	Flat capital femoral epiphysis
55325	UFSP2	HP:0005930	Abnormal epiphysis morphology
55325	UFSP2	HP:0011849	Abnormal bone ossification
55325	UFSP2	HP:0010574	Abnormality of the epiphysis of the femoral head
55325	UFSP2	HP:0002266	Focal clonic seizure
55325	UFSP2	HP:0003593	Infantile onset
55325	UFSP2	HP:0020045	Esodeviation
55325	UFSP2	HP:0003623	Neonatal onset
55325	UFSP2	HP:0004322	Short stature
55325	UFSP2	HP:0004349	Reduced bone mineral density
55325	UFSP2	HP:0004348	Abnormality of bone mineral density
55325	UFSP2	HP:0009107	Abnormal ossification involving the femoral head and neck
55325	UFSP2	HP:0011463	Childhood onset
55325	UFSP2	HP:0005743	Avascular necrosis of the capital femoral epiphysis
55325	UFSP2	HP:0000926	Platyspondyly
55325	UFSP2	HP:0003182	Shallow acetabular fossae
55325	UFSP2	HP:0100255	Metaphyseal dysplasia
55325	UFSP2	HP:0006429	Broad femoral neck
55325	UFSP2	HP:0002812	Coxa vara
55325	UFSP2	HP:0002829	Arthralgia
55325	UFSP2	HP:0002808	Kyphosis
55325	UFSP2	HP:0005041	Irregular capital femoral epiphysis
55325	UFSP2	HP:0000252	Microcephaly
55325	UFSP2	HP:0032792	Tonic seizure
55325	UFSP2	HP:0002979	Bowing of the legs
55325	UFSP2	HP:0002970	Genu varum
55325	UFSP2	HP:0012469	Infantile spasms
55325	UFSP2	HP:0000577	Exotropia
55325	UFSP2	HP:0000565	Esotropia
55329	MNS1	HP:0000007	Autosomal recessive inheritance
55329	MNS1	HP:0030674	Antenatal onset
55329	MNS1	HP:0003251	Male infertility
55329	MNS1	HP:0001696	Situs inversus totalis
55329	MNS1	HP:0001651	Dextrocardia
55329	MNS1	HP:0000403	Recurrent otitis media
55329	MNS1	HP:0001746	Asplenia
55331	ACER3	HP:0007281	Developmental stagnation
55331	ACER3	HP:0002415	Leukodystrophy
55331	ACER3	HP:0001284	Areflexia
55331	ACER3	HP:0001249	Intellectual disability
55331	ACER3	HP:0001257	Spasticity
55331	ACER3	HP:0001371	Flexion contracture
55331	ACER3	HP:0001332	Dystonia
55331	ACER3	HP:0000011	Neurogenic bladder
55331	ACER3	HP:0000007	Autosomal recessive inheritance
55331	ACER3	HP:0000179	Thick lower lip vermilion
55331	ACER3	HP:0002079	Hypoplasia of the corpus callosum
55331	ACER3	HP:0002059	Cerebral atrophy
55331	ACER3	HP:0002376	Developmental regression
55331	ACER3	HP:0003676	Progressive
55331	ACER3	HP:0009830	Peripheral neuropathy
55331	ACER3	HP:0004322	Short stature
55331	ACER3	HP:0004482	Relative macrocephaly
55331	ACER3	HP:0000280	Coarse facial features
55331	ACER3	HP:0000369	Low-set ears
55331	ACER3	HP:0000340	Sloping forehead
55331	ACER3	HP:0000319	Smooth philtrum
55331	ACER3	HP:0000448	Prominent nose
55331	ACER3	HP:0000574	Thick eyebrow
55331	ACER3	HP:0000543	Optic disc pallor
55340	GIMAP5	HP:0000007	Autosomal recessive inheritance
55340	GIMAP5	HP:0001409	Portal hypertension
55340	GIMAP5	HP:0001402	Hepatocellular carcinoma
55340	GIMAP5	HP:0002719	Recurrent infections
55340	GIMAP5	HP:0030948	Elevated gamma-glutamyltransferase level
55340	GIMAP5	HP:0002040	Esophageal varix
55340	GIMAP5	HP:0002105	Hemoptysis
55340	GIMAP5	HP:0002240	Hepatomegaly
55340	GIMAP5	HP:0011954	Nodular regenerative hyperplasia of liver
55340	GIMAP5	HP:0003621	Juvenile onset
55340	GIMAP5	HP:0011463	Childhood onset
55340	GIMAP5	HP:0000967	Petechiae
55340	GIMAP5	HP:0001541	Ascites
55340	GIMAP5	HP:0031364	Ecchymosis
55340	GIMAP5	HP:0012378	Fatigue
55340	GIMAP5	HP:0002910	Elevated hepatic transaminase
55340	GIMAP5	HP:0001744	Splenomegaly
55340	GIMAP5	HP:0000421	Epistaxis
55340	GIMAP5	HP:0001873	Thrombocytopenia
55343	SLC35C1	HP:0001169	Broad palm
55343	SLC35C1	HP:0001156	Brachydactyly
55343	SLC35C1	HP:0010864	Intellectual disability, severe
55343	SLC35C1	HP:0008551	Microtia
55343	SLC35C1	HP:0001290	Generalized hypotonia
55343	SLC35C1	HP:0001250	Seizure
55343	SLC35C1	HP:0001252	Hypotonia
55343	SLC35C1	HP:0001251	Ataxia
55343	SLC35C1	HP:0001263	Global developmental delay
55343	SLC35C1	HP:0410292	Abnormal isohemagglutinin level
55343	SLC35C1	HP:0007333	Hypoplasia of the frontal lobes
55343	SLC35C1	HP:0001347	Hyperreflexia
55343	SLC35C1	HP:0000010	Recurrent urinary tract infections
55343	SLC35C1	HP:0000007	Autosomal recessive inheritance
55343	SLC35C1	HP:0031123	Recurrent gastroenteritis
55343	SLC35C1	HP:0000189	Narrow palate
55343	SLC35C1	HP:0000166	Severe periodontitis
55343	SLC35C1	HP:0002719	Recurrent infections
55343	SLC35C1	HP:0002028	Chronic diarrhea
55343	SLC35C1	HP:0002002	Deep philtrum
55343	SLC35C1	HP:0100540	Palpebral edema
55343	SLC35C1	HP:0002090	Pneumonia
55343	SLC35C1	HP:0002059	Cerebral atrophy
55343	SLC35C1	HP:0002120	Cerebral cortical atrophy
55343	SLC35C1	HP:0011897	Neutrophilia
55343	SLC35C1	HP:0010529	Echolalia
55343	SLC35C1	HP:0002240	Hepatomegaly
55343	SLC35C1	HP:0007041	Chronic lymphocytic meningitis
55343	SLC35C1	HP:0011950	Bronchiolitis
55343	SLC35C1	HP:0020045	Esodeviation
55343	SLC35C1	HP:0002360	Sleep disturbance
55343	SLC35C1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
55343	SLC35C1	HP:0100658	Cellulitis
55343	SLC35C1	HP:0200037	Skin vesicle
55343	SLC35C1	HP:0009826	Limb undergrowth
55343	SLC35C1	HP:0010808	Protruding tongue
55343	SLC35C1	HP:0100699	Scarring
55343	SLC35C1	HP:0006895	Lower limb hypertonia
55343	SLC35C1	HP:0006887	Intellectual disability, progressive
55343	SLC35C1	HP:0001974	Leukocytosis
55343	SLC35C1	HP:0001954	Recurrent fever
55343	SLC35C1	HP:0001939	Abnormality of metabolism/homeostasis
55343	SLC35C1	HP:0001935	Microcytic anemia
55343	SLC35C1	HP:0001903	Anemia
55343	SLC35C1	HP:0011341	Long upper lip
55343	SLC35C1	HP:0004322	Short stature
55343	SLC35C1	HP:0000739	Anxiety
55343	SLC35C1	HP:0000717	Autism
55343	SLC35C1	HP:0000729	Autistic behavior
55343	SLC35C1	HP:0000704	Periodontitis
55343	SLC35C1	HP:0000280	Coarse facial features
55343	SLC35C1	HP:0000294	Low anterior hairline
55343	SLC35C1	HP:0001574	Abnormality of the integument
55343	SLC35C1	HP:0000252	Microcephaly
55343	SLC35C1	HP:0000212	Gingival overgrowth
55343	SLC35C1	HP:0001537	Umbilical hernia
55343	SLC35C1	HP:0001508	Failure to thrive
55343	SLC35C1	HP:0001518	Small for gestational age
55343	SLC35C1	HP:0001511	Intrauterine growth retardation
55343	SLC35C1	HP:0000385	Small earlobe
55343	SLC35C1	HP:0006532	Recurrent pneumonia
55343	SLC35C1	HP:0006480	Premature loss of teeth
55343	SLC35C1	HP:0000349	Widow's peak
55343	SLC35C1	HP:0000316	Hypertelorism
55343	SLC35C1	HP:0000303	Mandibular prognathia
55343	SLC35C1	HP:0031629	Impaired tandem gait
55343	SLC35C1	HP:0000403	Recurrent otitis media
55343	SLC35C1	HP:0000405	Conductive hearing impairment
55343	SLC35C1	HP:0005280	Depressed nasal bridge
55343	SLC35C1	HP:0000491	Keratitis
55343	SLC35C1	HP:0000457	Depressed nasal ridge
55343	SLC35C1	HP:0001773	Short foot
55343	SLC35C1	HP:0000414	Bulbous nose
55343	SLC35C1	HP:0000431	Wide nasal bridge
55343	SLC35C1	HP:0005400	Reduction of neutrophil motility
55343	SLC35C1	HP:0001845	Overlapping toe
55343	SLC35C1	HP:0000527	Long eyelashes
55343	SLC35C1	HP:0011229	Broad eyebrow
55366	LGR4	HP:0000044	Hypogonadotropic hypogonadism
55366	LGR4	HP:0000006	Autosomal dominant inheritance
55366	LGR4	HP:0002750	Delayed skeletal maturation
55366	LGR4	HP:0000823	Delayed puberty
55366	LGR4	HP:0040171	Decreased serum testosterone concentration
55366	LGR4	HP:0030344	Decreased circulating luteinizing hormone level
55366	LGR4	HP:0030341	Decreased circulating follicle stimulating hormone concentration
55367	PIDD1	HP:0001250	Seizure
55367	PIDD1	HP:0001249	Intellectual disability
55367	PIDD1	HP:0001263	Global developmental delay
55367	PIDD1	HP:0001339	Lissencephaly
55367	PIDD1	HP:0000007	Autosomal recessive inheritance
55367	PIDD1	HP:0001302	Pachygyria
55367	PIDD1	HP:0012169	Self-biting
55367	PIDD1	HP:0012170	Nail-biting
55367	PIDD1	HP:0002069	Bilateral tonic-clonic seizure
55367	PIDD1	HP:0002067	Bradykinesia
55367	PIDD1	HP:0002197	Generalized-onset seizure
55367	PIDD1	HP:0003593	Infantile onset
55367	PIDD1	HP:0100716	Self-injurious behavior
55367	PIDD1	HP:0007018	Attention deficit hyperactivity disorder
55367	PIDD1	HP:0020045	Esodeviation
55367	PIDD1	HP:0002360	Sleep disturbance
55367	PIDD1	HP:0002354	Memory impairment
55367	PIDD1	HP:0007164	Slowed slurred speech
55367	PIDD1	HP:0003621	Juvenile onset
55367	PIDD1	HP:0000752	Hyperactivity
55367	PIDD1	HP:0000719	Inappropriate behavior
55367	PIDD1	HP:0000718	Aggressive behavior
55367	PIDD1	HP:0000709	Psychosis
55367	PIDD1	HP:0011463	Childhood onset
55367	PIDD1	HP:0000787	Nephrolithiasis
55367	PIDD1	HP:0000953	Hyperpigmentation of the skin
55367	PIDD1	HP:0000252	Microcephaly
55367	PIDD1	HP:0011198	EEG with generalized epileptiform discharges
55367	PIDD1	HP:0012471	Thick vermilion border
55367	PIDD1	HP:0000565	Esotropia
55384	MEG3	HP:0001181	Adducted thumb
55384	MEG3	HP:0008551	Microtia
55384	MEG3	HP:0001270	Motor delay
55384	MEG3	HP:0001256	Intellectual disability, mild
55384	MEG3	HP:0001250	Seizure
55384	MEG3	HP:0001252	Hypotonia
55384	MEG3	HP:0001249	Intellectual disability
55384	MEG3	HP:0001263	Global developmental delay
55384	MEG3	HP:0002557	Hypoplastic nipples
55384	MEG3	HP:0001239	Wrist flexion contracture
55384	MEG3	HP:0100864	Short femoral neck
55384	MEG3	HP:0001220	Interphalangeal joint contracture of finger
55384	MEG3	HP:0001371	Flexion contracture
55384	MEG3	HP:0001388	Joint laxity
55384	MEG3	HP:0001382	Joint hypermobility
55384	MEG3	HP:0000023	Inguinal hernia
55384	MEG3	HP:0002694	Sclerosis of skull base
55384	MEG3	HP:0001357	Plagiocephaly
55384	MEG3	HP:0000028	Cryptorchidism
55384	MEG3	HP:0008897	Postnatal growth retardation
55384	MEG3	HP:0008872	Feeding difficulties in infancy
55384	MEG3	HP:0002673	Coxa valga
55384	MEG3	HP:0001339	Lissencephaly
55384	MEG3	HP:0002650	Scoliosis
55384	MEG3	HP:0001319	Neonatal hypotonia
55384	MEG3	HP:0002645	Wormian bones
55384	MEG3	HP:0000194	Open mouth
55384	MEG3	HP:0000193	Bifid uvula
55384	MEG3	HP:0000160	Narrow mouth
55384	MEG3	HP:0000158	Macroglossia
55384	MEG3	HP:0000175	Cleft palate
55384	MEG3	HP:0007685	Peripheral retinal avascularization
55384	MEG3	HP:0008947	Infantile muscular hypotonia
55384	MEG3	HP:0006267	Large placenta
55384	MEG3	HP:0000119	Abnormality of the genitourinary system
55384	MEG3	HP:0000126	Hydronephrosis
55384	MEG3	HP:0001433	Hepatosplenomegaly
55384	MEG3	HP:0002751	Kyphoscoliosis
55384	MEG3	HP:0002714	Downturned corners of mouth
55384	MEG3	HP:0002021	Pyloric stenosis
55384	MEG3	HP:0002033	Poor suck
55384	MEG3	HP:0002002	Deep philtrum
55384	MEG3	HP:0005989	Redundant neck skin
55384	MEG3	HP:0004673	Decreased facial expression
55384	MEG3	HP:0002007	Frontal bossing
55384	MEG3	HP:0002089	Pulmonary hypoplasia
55384	MEG3	HP:0002092	Pulmonary arterial hypertension
55384	MEG3	HP:0002091	Restrictive ventilatory defect
55384	MEG3	HP:0002057	Prominent glabella
55384	MEG3	HP:0009600	Contracture of thumb
55384	MEG3	HP:0002194	Delayed gross motor development
55384	MEG3	HP:0010561	Undulate ribs
55384	MEG3	HP:0010511	Long toe
55384	MEG3	HP:0011823	Chin with horizontal crease
55384	MEG3	HP:0011824	Chin with H-shaped crease
55384	MEG3	HP:0002263	Exaggerated cupid's bow
55384	MEG3	HP:0002240	Hepatomegaly
55384	MEG3	HP:0010655	Epiphyseal stippling
55384	MEG3	HP:0007010	Poor fine motor coordination
55384	MEG3	HP:0011968	Feeding difficulties
55384	MEG3	HP:0009826	Limb undergrowth
55384	MEG3	HP:0009832	Abnormal distal phalanx morphology of finger
55384	MEG3	HP:0009836	Broad distal phalanx of finger
55384	MEG3	HP:0010804	Tented upper lip vermilion
55384	MEG3	HP:0009824	Upper limb undergrowth
55384	MEG3	HP:0200055	Small hand
55384	MEG3	HP:0002307	Drooling
55384	MEG3	HP:0004904	Maturity-onset diabetes of the young
55384	MEG3	HP:0031878	Acromicria
55384	MEG3	HP:0004299	Hernia of the abdominal wall
55384	MEG3	HP:0001956	Truncal obesity
55384	MEG3	HP:0010034	Short 1st metacarpal
55384	MEG3	HP:0011344	Severe global developmental delay
55384	MEG3	HP:0011335	Frontal hirsutism
55384	MEG3	HP:0011343	Moderate global developmental delay
55384	MEG3	HP:0001999	Abnormal facial shape
55384	MEG3	HP:0004322	Short stature
55384	MEG3	HP:0003049	Ulnar deviation of the wrist
55384	MEG3	HP:0012745	Short palpebral fissure
55384	MEG3	HP:0000767	Pectus excavatum
55384	MEG3	HP:0000735	Impaired social interactions
55384	MEG3	HP:0000750	Delayed speech and language development
55384	MEG3	HP:0000729	Autistic behavior
55384	MEG3	HP:0011471	Gastrostomy tube feeding in infancy
55384	MEG3	HP:0012785	Flexion contracture of finger
55384	MEG3	HP:0000774	Narrow chest
55384	MEG3	HP:0000773	Short ribs
55384	MEG3	HP:0003124	Hypercholesterolemia
55384	MEG3	HP:0004415	Pulmonary artery stenosis
55384	MEG3	HP:0005736	Short tibia
55384	MEG3	HP:0000919	Abnormality of the costochondral junction
55384	MEG3	HP:0000924	Abnormality of the skeletal system
55384	MEG3	HP:0003186	Inverted nipples
55384	MEG3	HP:0000907	Anterior rib cupping
55384	MEG3	HP:0004482	Relative macrocephaly
55384	MEG3	HP:0000882	Hypoplastic scapulae
55384	MEG3	HP:0000890	Long clavicles
55384	MEG3	HP:0000884	Prominent sternum
55384	MEG3	HP:0000817	Reduced eye contact
55384	MEG3	HP:0000826	Precocious puberty
55384	MEG3	HP:0040024	Clinodactyly of the 3rd finger
55384	MEG3	HP:0003241	External genital hypoplasia
55384	MEG3	HP:0010301	Spinal dysraphism
55384	MEG3	HP:0000973	Cutis laxa
55384	MEG3	HP:0000954	Single transverse palmar crease
55384	MEG3	HP:0045025	Narrow palpebral fissure
55384	MEG3	HP:0000946	Hypoplastic ilia
55384	MEG3	HP:0012284	Small proximal tibial epiphyses
55384	MEG3	HP:0000286	Epicanthus
55384	MEG3	HP:0000278	Retrognathia
55384	MEG3	HP:0000293	Full cheeks
55384	MEG3	HP:0000260	Wide anterior fontanel
55384	MEG3	HP:0030084	Clinodactyly
55384	MEG3	HP:0005054	Metaphyseal spurs
55384	MEG3	HP:0000252	Microcephaly
55384	MEG3	HP:0002884	Hepatoblastoma
55384	MEG3	HP:0001548	Overgrowth
55384	MEG3	HP:0002878	Respiratory failure
55384	MEG3	HP:0000218	High palate
55384	MEG3	HP:0001561	Polyhydramnios
55384	MEG3	HP:0001540	Diastasis recti
55384	MEG3	HP:0001537	Umbilical hernia
55384	MEG3	HP:0001539	Omphalocele
55384	MEG3	HP:0001538	Protuberant abdomen
55384	MEG3	HP:0002866	Hypoplastic iliac wing
55384	MEG3	HP:0001520	Large for gestational age
55384	MEG3	HP:0001518	Small for gestational age
55384	MEG3	HP:0001511	Intrauterine growth retardation
55384	MEG3	HP:0001510	Growth delay
55384	MEG3	HP:0001513	Obesity
55384	MEG3	HP:0012385	Camptodactyly
55384	MEG3	HP:0005257	Thoracic hypoplasia
55384	MEG3	HP:0006591	Absent glenoid fossa
55384	MEG3	HP:0005268	Miscarriage
55384	MEG3	HP:0002937	Hemivertebrae
55384	MEG3	HP:0001601	Laryngomalacia
55384	MEG3	HP:0001615	Hoarse cry
55384	MEG3	HP:0000358	Posteriorly rotated ears
55384	MEG3	HP:0000368	Low-set, posteriorly rotated ears
55384	MEG3	HP:0000341	Narrow forehead
55384	MEG3	HP:0000343	Long philtrum
55384	MEG3	HP:0000337	Broad forehead
55384	MEG3	HP:0000347	Micrognathia
55384	MEG3	HP:0002982	Tibial bowing
55384	MEG3	HP:0012303	Abnormal aortic arch morphology
55384	MEG3	HP:0000327	Hypoplasia of the maxilla
55384	MEG3	HP:0000322	Short philtrum
55384	MEG3	HP:0001629	Ventricular septal defect
55384	MEG3	HP:0001627	Abnormal heart morphology
55384	MEG3	HP:0001622	Premature birth
55384	MEG3	HP:0001639	Hypertrophic cardiomyopathy
55384	MEG3	HP:0001631	Atrial septal defect
55384	MEG3	HP:0000303	Mandibular prognathia
55384	MEG3	HP:0006610	Wide intermamillary distance
55384	MEG3	HP:0006665	Coat hanger sign of ribs
55384	MEG3	HP:0000403	Recurrent otitis media
55384	MEG3	HP:0005280	Depressed nasal bridge
55384	MEG3	HP:0012471	Thick vermilion border
55384	MEG3	HP:0000490	Deeply set eye
55384	MEG3	HP:0001792	Small nail
55384	MEG3	HP:0000463	Anteverted nares
55384	MEG3	HP:0000470	Short neck
55384	MEG3	HP:0001773	Short foot
55384	MEG3	HP:0012428	Prominent calcaneus
55384	MEG3	HP:0000445	Wide nose
55384	MEG3	HP:0000431	Wide nasal bridge
55384	MEG3	HP:0001845	Overlapping toe
55384	MEG3	HP:0001840	Metatarsus adductus
55384	MEG3	HP:0000581	Blepharophimosis
55384	MEG3	HP:0011220	Prominent forehead
55384	MEG3	HP:0000565	Esotropia
55388	MCM10	HP:0010976	B lymphocytopenia
55388	MCM10	HP:0000007	Autosomal recessive inheritance
55388	MCM10	HP:0006270	Hypoplastic spleen
55388	MCM10	HP:0002721	Immunodeficiency
55388	MCM10	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
55388	MCM10	HP:0002014	Diarrhea
55388	MCM10	HP:0002155	Hypertriglyceridemia
55388	MCM10	HP:0011900	Hypofibrinogenemia
55388	MCM10	HP:0001945	Fever
55388	MCM10	HP:0011461	Fetal onset
55388	MCM10	HP:0000778	Hypoplasia of the thymus
55388	MCM10	HP:0030718	Right atrial enlargement
55388	MCM10	HP:0040218	Reduced natural killer cell count
55388	MCM10	HP:0003281	Increased circulating ferritin concentration
55388	MCM10	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3
55388	MCM10	HP:0001698	Pericardial effusion
55388	MCM10	HP:0001723	Restrictive cardiomyopathy
55388	MCM10	HP:0001706	Endocardial fibroelastosis
55388	MCM10	HP:0001790	Nonimmune hydrops fetalis
55388	MCM10	HP:0005403	T lymphocytopenia
55388	MCM10	HP:0031692	Severe cytomegalovirus infection
55503	TRPV6	HP:0001297	Stroke
55503	TRPV6	HP:0001270	Motor delay
55503	TRPV6	HP:0001252	Hypotonia
55503	TRPV6	HP:0000023	Inguinal hernia
55503	TRPV6	HP:0001344	Absent speech
55503	TRPV6	HP:0000007	Autosomal recessive inheritance
55503	TRPV6	HP:0001334	Communicating hydrocephalus
55503	TRPV6	HP:0000138	Ovarian cyst
55503	TRPV6	HP:0000122	Unilateral renal agenesis
55503	TRPV6	HP:0002757	Recurrent fractures
55503	TRPV6	HP:0000105	Enlarged kidney
55503	TRPV6	HP:0003355	Aminoaciduria
55503	TRPV6	HP:0002020	Gastroesophageal reflux
55503	TRPV6	HP:0002007	Frontal bossing
55503	TRPV6	HP:0100530	Abnormal calcium-phosphate regulating hormone level
55503	TRPV6	HP:0002098	Respiratory distress
55503	TRPV6	HP:0002119	Ventriculomegaly
55503	TRPV6	HP:0010561	Undulate ribs
55503	TRPV6	HP:0010537	Wide cranial sutures
55503	TRPV6	HP:0003577	Congenital onset
55503	TRPV6	HP:0002240	Hepatomegaly
55503	TRPV6	HP:0011968	Feeding difficulties
55503	TRPV6	HP:0041159	Fractured rib
55503	TRPV6	HP:0004322	Short stature
55503	TRPV6	HP:0006934	Congenital nystagmus
55503	TRPV6	HP:0034197	Third trimester onset
55503	TRPV6	HP:0003026	Short long bone
55503	TRPV6	HP:0000750	Delayed speech and language development
55503	TRPV6	HP:0000774	Narrow chest
55503	TRPV6	HP:0000773	Short ribs
55503	TRPV6	HP:0003194	Short nasal bridge
55503	TRPV6	HP:0003155	Elevated circulating alkaline phosphatase concentration
55503	TRPV6	HP:0000883	Thin ribs
55503	TRPV6	HP:0000843	Hyperparathyroidism
55503	TRPV6	HP:0003097	Short femur
55503	TRPV6	HP:0000820	Abnormality of the thyroid gland
55503	TRPV6	HP:0000938	Osteopenia
55503	TRPV6	HP:0000944	Abnormal metaphysis morphology
55503	TRPV6	HP:0005054	Metaphyseal spurs
55503	TRPV6	HP:0000248	Brachycephaly
55503	TRPV6	HP:0001561	Polyhydramnios
55503	TRPV6	HP:0001537	Umbilical hernia
55503	TRPV6	HP:0000369	Low-set ears
55503	TRPV6	HP:0000348	High forehead
55503	TRPV6	HP:0002980	Femoral bowing
55503	TRPV6	HP:0001643	Patent ductus arteriosus
55503	TRPV6	HP:0031485	Subperiosteal bone formation
55503	TRPV6	HP:0005280	Depressed nasal bridge
55503	TRPV6	HP:0000463	Anteverted nares
55503	TRPV6	HP:0001744	Splenomegaly
55503	TRPV6	HP:0000431	Wide nasal bridge
55503	TRPV6	HP:0030423	Splenic cyst
55505	NOP10	HP:0009926	Epiphora
55505	NOP10	HP:0010885	Avascular necrosis
55505	NOP10	HP:0001249	Intellectual disability
55505	NOP10	HP:0001263	Global developmental delay
55505	NOP10	HP:0001231	Abnormal fingernail morphology
55505	NOP10	HP:0002575	Tracheoesophageal fistula
55505	NOP10	HP:0008661	Urethral stenosis
55505	NOP10	HP:0002514	Cerebral calcification
55505	NOP10	HP:0001399	Hepatic failure
55505	NOP10	HP:0001395	Hepatic fibrosis
55505	NOP10	HP:0001394	Cirrhosis
55505	NOP10	HP:0000035	Abnormal testis morphology
55505	NOP10	HP:0002664	Neoplasm
55505	NOP10	HP:0000008	Abnormal morphology of female internal genitalia
55505	NOP10	HP:0000007	Autosomal recessive inheritance
55505	NOP10	HP:0002665	Lymphoma
55505	NOP10	HP:0002650	Scoliosis
55505	NOP10	HP:0000164	Abnormality of the dentition
55505	NOP10	HP:0007588	Reticular hyperpigmentation
55505	NOP10	HP:0002757	Recurrent fractures
55505	NOP10	HP:0002745	Oral leukoplakia
55505	NOP10	HP:0002024	Malabsorption
55505	NOP10	HP:0002043	Esophageal stricture
55505	NOP10	HP:0010450	Esophageal stenosis
55505	NOP10	HP:0100585	Telangiectasia of the skin
55505	NOP10	HP:0002165	Pterygium of nails
55505	NOP10	HP:0002240	Hepatomegaly
55505	NOP10	HP:0002216	Premature graying of hair
55505	NOP10	HP:0002209	Sparse scalp hair
55505	NOP10	HP:0002205	Recurrent respiratory infections
55505	NOP10	HP:0002206	Pulmonary fibrosis
55505	NOP10	HP:0008404	Nail dystrophy
55505	NOP10	HP:0010624	Aplastic/hypoplastic toenail
55505	NOP10	HP:0001053	Hypopigmented skin patches
55505	NOP10	HP:0001059	Pterygium
55505	NOP10	HP:0001034	Hypermelanotic macule
55505	NOP10	HP:0200037	Skin vesicle
55505	NOP10	HP:0100670	Coarse metaphyseal trabecularization
55505	NOP10	HP:0100627	Displacement of the urethral meatus
55505	NOP10	HP:0200042	Skin ulcer
55505	NOP10	HP:0005528	Bone marrow hypocellularity
55505	NOP10	HP:0001928	Abnormality of coagulation
55505	NOP10	HP:0000600	Abnormality of the pharynx
55505	NOP10	HP:0001903	Anemia
55505	NOP10	HP:0001915	Aplastic anemia
55505	NOP10	HP:0011364	White hair
55505	NOP10	HP:0000679	Taurodontia
55505	NOP10	HP:0000691	Microdontia
55505	NOP10	HP:0000653	Sparse eyelashes
55505	NOP10	HP:0000670	Carious teeth
55505	NOP10	HP:0000668	Hypodontia
55505	NOP10	HP:0004322	Short stature
55505	NOP10	HP:0012732	Anorectal anomaly
55505	NOP10	HP:0012733	Macule
55505	NOP10	HP:0000704	Periodontitis
55505	NOP10	HP:0000819	Diabetes mellitus
55505	NOP10	HP:0000975	Hyperhidrosis
55505	NOP10	HP:0000972	Palmoplantar hyperkeratosis
55505	NOP10	HP:0000982	Palmoplantar keratoderma
55505	NOP10	HP:0000953	Hyperpigmentation of the skin
55505	NOP10	HP:0000939	Osteoporosis
55505	NOP10	HP:0008070	Sparse hair
55505	NOP10	HP:0008065	Aplasia/Hypoplasia of the skin
55505	NOP10	HP:0008066	Abnormal blistering of the skin
55505	NOP10	HP:0001596	Alopecia
55505	NOP10	HP:0000252	Microcephaly
55505	NOP10	HP:0002894	Neoplasm of the pancreas
55505	NOP10	HP:0001511	Intrauterine growth retardation
55505	NOP10	HP:0000365	Hearing impairment
55505	NOP10	HP:0000327	Hypoplasia of the maxilla
55505	NOP10	HP:0000499	Abnormal eyelash morphology
55505	NOP10	HP:0000498	Blepharitis
55505	NOP10	HP:0005374	Cellular immunodeficiency
55505	NOP10	HP:0001792	Small nail
55505	NOP10	HP:0001744	Splenomegaly
55505	NOP10	HP:0000518	Cataract
55505	NOP10	HP:0000579	Nasolacrimal duct obstruction
55505	NOP10	HP:0000534	Abnormal eyebrow morphology
55505	NOP10	HP:0001874	Abnormality of neutrophils
55505	NOP10	HP:0001873	Thrombocytopenia
55505	NOP10	HP:0001876	Pancytopenia
55521	TRIM36	HP:0002414	Spina bifida
55521	TRIM36	HP:0000007	Autosomal recessive inheritance
55521	TRIM36	HP:0003577	Congenital onset
55521	TRIM36	HP:0002323	Anencephaly
55526	DHTKD1	HP:0001252	Hypotonia
55526	DHTKD1	HP:0001265	Hyporeflexia
55526	DHTKD1	HP:0001263	Global developmental delay
55526	DHTKD1	HP:0410309	Alpha-aminoadipic aciduria
55526	DHTKD1	HP:0000007	Autosomal recessive inheritance
55526	DHTKD1	HP:0000006	Autosomal dominant inheritance
55526	DHTKD1	HP:0034465	2-hydroxyadipic aciduria
55526	DHTKD1	HP:0003474	Somatic sensory dysfunction
55526	DHTKD1	HP:0007018	Attention deficit hyperactivity disorder
55526	DHTKD1	HP:0002355	Difficulty walking
55526	DHTKD1	HP:0003621	Juvenile onset
55526	DHTKD1	HP:0006886	Impaired distal vibration sensation
55526	DHTKD1	HP:0009053	Distal lower limb muscle weakness
55526	DHTKD1	HP:0011342	Mild global developmental delay
55526	DHTKD1	HP:0000750	Delayed speech and language development
55526	DHTKD1	HP:0011462	Young adult onset
55526	DHTKD1	HP:0003202	Skeletal muscle atrophy
55526	DHTKD1	HP:0000252	Microcephaly
55526	DHTKD1	HP:0001761	Pes cavus
55532	SLC30A10	HP:0002453	Abnormal globus pallidus morphology
55532	SLC30A10	HP:0002446	Astrocytosis
55532	SLC30A10	HP:0025196	Increased total iron binding capacity
55532	SLC30A10	HP:0010927	Abnormal blood inorganic cation concentration
55532	SLC30A10	HP:0001276	Hypertonia
55532	SLC30A10	HP:0001288	Gait disturbance
55532	SLC30A10	HP:0001260	Dysarthria
55532	SLC30A10	HP:0001392	Abnormality of the liver
55532	SLC30A10	HP:0001394	Cirrhosis
55532	SLC30A10	HP:0025321	Copper accumulation in liver
55532	SLC30A10	HP:0001332	Dystonia
55532	SLC30A10	HP:0000007	Autosomal recessive inheritance
55532	SLC30A10	HP:0001337	Tremor
55532	SLC30A10	HP:0001300	Parkinsonism
55532	SLC30A10	HP:0001410	Decreased liver function
55532	SLC30A10	HP:0001409	Portal hypertension
55532	SLC30A10	HP:0001413	Micronodular cirrhosis
55532	SLC30A10	HP:0002067	Bradykinesia
55532	SLC30A10	HP:0002063	Rigidity
55532	SLC30A10	HP:0002078	Truncal ataxia
55532	SLC30A10	HP:0002075	Dysdiadochokinesis
55532	SLC30A10	HP:0002071	Abnormality of extrapyramidal motor function
55532	SLC30A10	HP:0003376	Steppage gait
55532	SLC30A10	HP:0002040	Esophageal varix
55532	SLC30A10	HP:0100513	Low levels of vitamin E
55532	SLC30A10	HP:0008151	Prolonged prothrombin time
55532	SLC30A10	HP:0002154	Hyperglycinemia
55532	SLC30A10	HP:0002172	Postural instability
55532	SLC30A10	HP:0008282	Unconjugated hyperbilirubinemia
55532	SLC30A10	HP:0002240	Hepatomegaly
55532	SLC30A10	HP:0032097	Hypermanganesemia
55532	SLC30A10	HP:0007010	Poor fine motor coordination
55532	SLC30A10	HP:0002345	Action tremor
55532	SLC30A10	HP:0002355	Difficulty walking
55532	SLC30A10	HP:0002313	Spastic paraparesis
55532	SLC30A10	HP:0009830	Peripheral neuropathy
55532	SLC30A10	HP:0007141	Sensorimotor neuropathy
55532	SLC30A10	HP:0001928	Abnormality of coagulation
55532	SLC30A10	HP:0001901	Polycythemia
55532	SLC30A10	HP:0004337	Abnormality of amino acid metabolism
55532	SLC30A10	HP:0012751	Abnormal basal ganglia MRI signal intensity
55532	SLC30A10	HP:0000952	Jaundice
55532	SLC30A10	HP:0040135	Abnormal transferrin saturation
55532	SLC30A10	HP:0000252	Microcephaly
55532	SLC30A10	HP:0002910	Elevated hepatic transaminase
55532	SLC30A10	HP:0012343	Decreased circulating ferritin concentration
55532	SLC30A10	HP:0000338	Hypomimic face
55532	SLC30A10	HP:0001639	Hypertrophic cardiomyopathy
55532	SLC30A10	HP:0012447	Abnormal myelination
55532	SLC30A10	HP:0001744	Splenomegaly
55553	SOX6	HP:0001166	Arachnodactyly
55553	SOX6	HP:0001249	Intellectual disability
55553	SOX6	HP:0001263	Global developmental delay
55553	SOX6	HP:0000006	Autosomal dominant inheritance
55553	SOX6	HP:0000160	Narrow mouth
55553	SOX6	HP:0000176	Submucous cleft hard palate
55553	SOX6	HP:0500093	Food allergy
55553	SOX6	HP:0010526	Dysgraphia
55553	SOX6	HP:0003593	Infantile onset
55553	SOX6	HP:0009729	Cardiac rhabdomyoma
55553	SOX6	HP:0007018	Attention deficit hyperactivity disorder
55553	SOX6	HP:0001007	Hirsutism
55553	SOX6	HP:0004209	Clinodactyly of the 5th finger
55553	SOX6	HP:0012745	Short palpebral fissure
55553	SOX6	HP:0000729	Autistic behavior
55553	SOX6	HP:0030799	Scaphocephaly
55553	SOX6	HP:0003186	Inverted nipples
55553	SOX6	HP:0000826	Precocious puberty
55553	SOX6	HP:0030820	Hooded eyelid
55553	SOX6	HP:0000263	Oxycephaly
55553	SOX6	HP:0000276	Long face
55553	SOX6	HP:0000269	Prominent occiput
55553	SOX6	HP:0000218	High palate
55553	SOX6	HP:0001540	Diastasis recti
55553	SOX6	HP:0001537	Umbilical hernia
55553	SOX6	HP:0000369	Low-set ears
55553	SOX6	HP:0000341	Narrow forehead
55553	SOX6	HP:0000348	High forehead
55553	SOX6	HP:0000347	Micrognathia
55553	SOX6	HP:0000316	Hypertelorism
55553	SOX6	HP:0000325	Triangular face
55553	SOX6	HP:0000407	Sensorineural hearing impairment
55553	SOX6	HP:0000400	Macrotia
55553	SOX6	HP:0000448	Prominent nose
55553	SOX6	HP:0001751	Abnormal vestibular function
55553	SOX6	HP:0000431	Wide nasal bridge
55553	SOX6	HP:0030431	Osteochondroma
55553	SOX6	HP:0000579	Nasolacrimal duct obstruction
55553	SOX6	HP:0000574	Thick eyebrow
55572	FOXRED1	HP:0025116	Fetal distress
55572	FOXRED1	HP:0002490	Increased CSF lactate
55572	FOXRED1	HP:0002465	Poor speech
55572	FOXRED1	HP:0001138	Optic neuropathy
55572	FOXRED1	HP:0010864	Intellectual disability, severe
55572	FOXRED1	HP:0002421	Poor head control
55572	FOXRED1	HP:0002415	Leukodystrophy
55572	FOXRED1	HP:0003737	Mitochondrial myopathy
55572	FOXRED1	HP:0001298	Encephalopathy
55572	FOXRED1	HP:0001272	Cerebellar atrophy
55572	FOXRED1	HP:0001288	Gait disturbance
55572	FOXRED1	HP:0001254	Lethargy
55572	FOXRED1	HP:0001250	Seizure
55572	FOXRED1	HP:0001252	Hypotonia
55572	FOXRED1	HP:0001251	Ataxia
55572	FOXRED1	HP:0001260	Dysarthria
55572	FOXRED1	HP:0001263	Global developmental delay
55572	FOXRED1	HP:0001257	Spasticity
55572	FOXRED1	HP:0002540	Inability to walk
55572	FOXRED1	HP:0002505	Loss of ambulation
55572	FOXRED1	HP:0001347	Hyperreflexia
55572	FOXRED1	HP:0001332	Dystonia
55572	FOXRED1	HP:0001324	Muscle weakness
55572	FOXRED1	HP:0001344	Absent speech
55572	FOXRED1	HP:0000007	Autosomal recessive inheritance
55572	FOXRED1	HP:0001336	Myoclonus
55572	FOXRED1	HP:0002650	Scoliosis
55572	FOXRED1	HP:0008972	Decreased activity of mitochondrial respiratory chain
55572	FOXRED1	HP:0000114	Proximal tubulopathy
55572	FOXRED1	HP:0002013	Vomiting
55572	FOXRED1	HP:0002093	Respiratory insufficiency
55572	FOXRED1	HP:0002063	Rigidity
55572	FOXRED1	HP:0002073	Progressive cerebellar ataxia
55572	FOXRED1	HP:0002151	Increased serum lactate
55572	FOXRED1	HP:0002119	Ventriculomegaly
55572	FOXRED1	HP:0002104	Apnea
55572	FOXRED1	HP:0011923	Decreased activity of mitochondrial complex I
55572	FOXRED1	HP:0003577	Congenital onset
55572	FOXRED1	HP:0002240	Hepatomegaly
55572	FOXRED1	HP:0100704	Cerebral visual impairment
55572	FOXRED1	HP:0003542	Increased serum pyruvate
55572	FOXRED1	HP:0007020	Progressive spastic paraplegia
55572	FOXRED1	HP:0011968	Feeding difficulties
55572	FOXRED1	HP:0008316	Abnormal mitochondria in muscle tissue
55572	FOXRED1	HP:0002352	Leukoencephalopathy
55572	FOXRED1	HP:0009830	Peripheral neuropathy
55572	FOXRED1	HP:0003623	Neonatal onset
55572	FOXRED1	HP:0002305	Athetosis
55572	FOXRED1	HP:0007183	Focal T2 hyperintense basal ganglia lesion
55572	FOXRED1	HP:0000639	Nystagmus
55572	FOXRED1	HP:0000648	Optic atrophy
55572	FOXRED1	HP:0000618	Blindness
55572	FOXRED1	HP:0001943	Hypoglycemia
55572	FOXRED1	HP:0001941	Acidosis
55572	FOXRED1	HP:0000602	Ophthalmoplegia
55572	FOXRED1	HP:0001903	Anemia
55572	FOXRED1	HP:0012748	Focal T2 hyperintense brainstem lesion
55572	FOXRED1	HP:0100022	Abnormality of movement
55572	FOXRED1	HP:0000737	Irritability
55572	FOXRED1	HP:0000712	Emotional lability
55572	FOXRED1	HP:0003128	Lactic acidosis
55572	FOXRED1	HP:0000819	Diabetes mellitus
55572	FOXRED1	HP:0000817	Reduced eye contact
55572	FOXRED1	HP:0000998	Hypertrichosis
55572	FOXRED1	HP:0007704	Paroxysmal involuntary eye movements
55572	FOXRED1	HP:0000252	Microcephaly
55572	FOXRED1	HP:0001508	Failure to thrive
55572	FOXRED1	HP:0001511	Intrauterine growth retardation
55572	FOXRED1	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
55572	FOXRED1	HP:0000365	Hearing impairment
55572	FOXRED1	HP:0001629	Ventricular septal defect
55572	FOXRED1	HP:0001639	Hypertrophic cardiomyopathy
55572	FOXRED1	HP:0000407	Sensorineural hearing impairment
55572	FOXRED1	HP:0000486	Strabismus
55572	FOXRED1	HP:0012448	Delayed myelination
55572	FOXRED1	HP:0005484	Secondary microcephaly
55572	FOXRED1	HP:0000508	Ptosis
55572	FOXRED1	HP:0000580	Pigmentary retinopathy
55572	FOXRED1	HP:0000543	Optic disc pallor
55593	OTUD5	HP:0001162	Postaxial hand polydactyly
55593	OTUD5	HP:0001274	Agenesis of corpus callosum
55593	OTUD5	HP:0001250	Seizure
55593	OTUD5	HP:0001252	Hypotonia
55593	OTUD5	HP:0001249	Intellectual disability
55593	OTUD5	HP:0001263	Global developmental delay
55593	OTUD5	HP:0000081	Duplicated collecting system
55593	OTUD5	HP:0000076	Vesicoureteral reflux
55593	OTUD5	HP:0000054	Micropenis
55593	OTUD5	HP:0000047	Hypospadias
55593	OTUD5	HP:0001363	Craniosynostosis
55593	OTUD5	HP:0000028	Cryptorchidism
55593	OTUD5	HP:0008872	Feeding difficulties in infancy
55593	OTUD5	HP:0006191	Deep palmar crease
55593	OTUD5	HP:0002673	Coxa valga
55593	OTUD5	HP:0001321	Cerebellar hypoplasia
55593	OTUD5	HP:0000126	Hydronephrosis
55593	OTUD5	HP:0001419	X-linked recessive inheritance
55593	OTUD5	HP:0005989	Redundant neck skin
55593	OTUD5	HP:0003316	Butterfly vertebrae
55593	OTUD5	HP:0011800	Midface retrusion
55593	OTUD5	HP:0002079	Hypoplasia of the corpus callosum
55593	OTUD5	HP:0100507	Reduced blood folate concentration
55593	OTUD5	HP:0002119	Ventriculomegaly
55593	OTUD5	HP:0010557	Overlapping fingers
55593	OTUD5	HP:0003577	Congenital onset
55593	OTUD5	HP:0002240	Hepatomegaly
55593	OTUD5	HP:0100702	Arachnoid cyst
55593	OTUD5	HP:0009748	Large earlobe
55593	OTUD5	HP:0002283	Global brain atrophy
55593	OTUD5	HP:0025024	Megarectum
55593	OTUD5	HP:0001007	Hirsutism
55593	OTUD5	HP:0004935	Pulmonary artery atresia
55593	OTUD5	HP:0000639	Nystagmus
55593	OTUD5	HP:0000609	Optic nerve hypoplasia
55593	OTUD5	HP:0011330	Metopic synostosis
55593	OTUD5	HP:0000668	Hypodontia
55593	OTUD5	HP:0004322	Short stature
55593	OTUD5	HP:0000729	Autistic behavior
55593	OTUD5	HP:0003236	Elevated circulating creatine kinase concentration
55593	OTUD5	HP:0000280	Coarse facial features
55593	OTUD5	HP:0000278	Retrognathia
55593	OTUD5	HP:0000256	Macrocephaly
55593	OTUD5	HP:0002804	Arthrogryposis multiplex congenita
55593	OTUD5	HP:0000252	Microcephaly
55593	OTUD5	HP:0001561	Polyhydramnios
55593	OTUD5	HP:0001518	Small for gestational age
55593	OTUD5	HP:0001511	Intrauterine growth retardation
55593	OTUD5	HP:0002910	Elevated hepatic transaminase
55593	OTUD5	HP:0005162	Abnormal left ventricular function
55593	OTUD5	HP:0000365	Hearing impairment
55593	OTUD5	HP:0000358	Posteriorly rotated ears
55593	OTUD5	HP:0000369	Low-set ears
55593	OTUD5	HP:0000316	Hypertelorism
55593	OTUD5	HP:0001642	Pulmonic stenosis
55593	OTUD5	HP:0001629	Ventricular septal defect
55593	OTUD5	HP:0000307	Pointed chin
55593	OTUD5	HP:0007957	Corneal opacity
55593	OTUD5	HP:0001719	Double outlet right ventricle
55593	OTUD5	HP:0000483	Astigmatism
55593	OTUD5	HP:0000486	Strabismus
55593	OTUD5	HP:0000494	Downslanted palpebral fissures
55593	OTUD5	HP:0001792	Small nail
55593	OTUD5	HP:0001772	Talipes equinovalgus
55593	OTUD5	HP:0001762	Talipes equinovarus
55593	OTUD5	HP:0001838	Rocker bottom foot
55593	OTUD5	HP:0000506	Telecanthus
55593	OTUD5	HP:0001830	Postaxial foot polydactyly
55593	OTUD5	HP:0000540	Hypermetropia
55593	OTUD5	HP:0001882	Leukopenia
55593	OTUD5	HP:0001873	Thrombocytopenia
55596	ZCCHC8	HP:0000006	Autosomal dominant inheritance
55596	ZCCHC8	HP:0002206	Pulmonary fibrosis
55596	ZCCHC8	HP:0005528	Bone marrow hypocellularity
55596	ZCCHC8	HP:0031413	Short telomere length
55599	RNPC3	HP:0008897	Postnatal growth retardation
55599	RNPC3	HP:0000007	Autosomal recessive inheritance
55599	RNPC3	HP:0002750	Delayed skeletal maturation
55599	RNPC3	HP:0002007	Frontal bossing
55599	RNPC3	HP:0003593	Infantile onset
55599	RNPC3	HP:0010627	Anterior pituitary hypoplasia
55599	RNPC3	HP:0001956	Truncal obesity
55599	RNPC3	HP:0004322	Short stature
55599	RNPC3	HP:0012743	Abdominal obesity
55599	RNPC3	HP:0000824	Decreased response to growth hormone stimulation test
55599	RNPC3	HP:0000252	Microcephaly
55603	TENT5A	HP:0001270	Motor delay
55603	TENT5A	HP:0001388	Joint laxity
55603	TENT5A	HP:0001382	Joint hypermobility
55603	TENT5A	HP:0000007	Autosomal recessive inheritance
55603	TENT5A	HP:0002645	Wormian bones
55603	TENT5A	HP:0000164	Abnormality of the dentition
55603	TENT5A	HP:0002757	Recurrent fractures
55603	TENT5A	HP:0002753	Thin bony cortex
55603	TENT5A	HP:0000750	Delayed speech and language development
55603	TENT5A	HP:0000883	Thin ribs
55603	TENT5A	HP:0004586	Biconcave vertebral bodies
55603	TENT5A	HP:0040160	Generalized osteoporosis
55603	TENT5A	HP:0001537	Umbilical hernia
55603	TENT5A	HP:0006487	Bowing of the long bones
55603	TENT5A	HP:0000337	Broad forehead
55603	TENT5A	HP:0000347	Micrognathia
55603	TENT5A	HP:0002980	Femoral bowing
55603	TENT5A	HP:0002953	Vertebral compression fracture
55603	TENT5A	HP:0000431	Wide nasal bridge
55603	TENT5A	HP:0000527	Long eyelashes
55603	TENT5A	HP:0000592	Blue sclerae
55605	KIF21A	HP:0000006	Autosomal dominant inheritance
55605	KIF21A	HP:0001491	Congenital fibrosis of extraocular muscles
55605	KIF21A	HP:0001488	Bilateral ptosis
55605	KIF21A	HP:0001477	Compensatory chin elevation
55605	KIF21A	HP:0012242	Superior rectus atrophy
55605	KIF21A	HP:0012241	Levator palpebrae superioris atrophy
55605	KIF21A	HP:0007936	Restrictive external ophthalmoplegia
55605	KIF21A	HP:0031721	Sensory exotropia
55605	KIF21A	HP:0031723	Secondary esotropia
55605	KIF21A	HP:0000577	Exotropia
55605	KIF21A	HP:0000565	Esotropia
55610	VPS50	HP:0002421	Poor head control
55610	VPS50	HP:0001272	Cerebellar atrophy
55610	VPS50	HP:0008689	Bilateral cryptorchidism
55610	VPS50	HP:0003819	Death in childhood
55610	VPS50	HP:0000007	Autosomal recessive inheritance
55610	VPS50	HP:0001406	Intrahepatic cholestasis
55610	VPS50	HP:0002079	Hypoplasia of the corpus callosum
55610	VPS50	HP:0040288	Nasogastric tube feeding
55610	VPS50	HP:0002179	Opisthotonus
55610	VPS50	HP:0011968	Feeding difficulties
55610	VPS50	HP:0020045	Esodeviation
55610	VPS50	HP:0010818	Generalized tonic seizure
55610	VPS50	HP:0003623	Neonatal onset
55610	VPS50	HP:0011344	Severe global developmental delay
55610	VPS50	HP:0031956	Elevated circulating aspartate aminotransferase concentration
55610	VPS50	HP:0031964	Elevated circulating alanine aminotransferase concentration
55610	VPS50	HP:0000737	Irritability
55610	VPS50	HP:0012202	Increased serum bile acid concentration
55610	VPS50	HP:0002904	Hyperbilirubinemia
55610	VPS50	HP:0011003	High myopia
55610	VPS50	HP:0005484	Secondary microcephaly
55610	VPS50	HP:0012595	Mild proteinuria
55612	FERMT1	HP:0100825	Cheilitis
55612	FERMT1	HP:0002583	Colitis
55612	FERMT1	HP:0006101	Finger syndactyly
55612	FERMT1	HP:0031045	Acral blistering
55612	FERMT1	HP:0008661	Urethral stenosis
55612	FERMT1	HP:0001371	Flexion contracture
55612	FERMT1	HP:0007488	Diffuse skin atrophy
55612	FERMT1	HP:0000007	Autosomal recessive inheritance
55612	FERMT1	HP:0006323	Premature loss of primary teeth
55612	FERMT1	HP:0002745	Oral leukoplakia
55612	FERMT1	HP:0002025	Anal stenosis
55612	FERMT1	HP:0002037	Inflammation of the large intestine
55612	FERMT1	HP:0002015	Dysphagia
55612	FERMT1	HP:0002043	Esophageal stricture
55612	FERMT1	HP:0100517	Neoplasm of the urethra
55612	FERMT1	HP:0010450	Esophageal stenosis
55612	FERMT1	HP:0100585	Telangiectasia of the skin
55612	FERMT1	HP:0100490	Camptodactyly of finger
55612	FERMT1	HP:0430007	Symblepharon
55612	FERMT1	HP:0008388	Abnormal toenail morphology
55612	FERMT1	HP:0001056	Milia
55612	FERMT1	HP:0001030	Fragile skin
55612	FERMT1	HP:0001029	Poikiloderma
55612	FERMT1	HP:0001000	Abnormality of skin pigmentation
55612	FERMT1	HP:0200020	Corneal erosion
55612	FERMT1	HP:0100633	Esophagitis
55612	FERMT1	HP:0010783	Erythema
55612	FERMT1	HP:0009775	Amniotic constriction ring
55612	FERMT1	HP:0005590	Spotty hypopigmentation
55612	FERMT1	HP:0005585	Spotty hyperpigmentation
55612	FERMT1	HP:0001903	Anemia
55612	FERMT1	HP:0010047	Short 5th metacarpal
55612	FERMT1	HP:0010044	Short 4th metacarpal
55612	FERMT1	HP:0000682	Abnormal dental enamel morphology
55612	FERMT1	HP:0000656	Ectropion
55612	FERMT1	HP:0000670	Carious teeth
55612	FERMT1	HP:0004334	Dermal atrophy
55612	FERMT1	HP:0004378	Abnormality of the anus
55612	FERMT1	HP:0000772	Abnormal rib morphology
55612	FERMT1	HP:0000704	Periodontitis
55612	FERMT1	HP:0000929	Abnormal skull morphology
55612	FERMT1	HP:0000972	Palmoplantar hyperkeratosis
55612	FERMT1	HP:0000992	Cutaneous photosensitivity
55612	FERMT1	HP:0000987	Atypical scarring of skin
55612	FERMT1	HP:0000982	Palmoplantar keratoderma
55612	FERMT1	HP:0000962	Hyperkeratosis
55612	FERMT1	HP:0008065	Aplasia/Hypoplasia of the skin
55612	FERMT1	HP:0008066	Abnormal blistering of the skin
55612	FERMT1	HP:0000262	Turricephaly
55612	FERMT1	HP:0012227	Urethral stricture
55612	FERMT1	HP:0001581	Recurrent skin infections
55612	FERMT1	HP:0000230	Gingivitis
55612	FERMT1	HP:0002860	Squamous cell carcinoma
55612	FERMT1	HP:0001602	Laryngeal stenosis
55612	FERMT1	HP:0007957	Corneal opacity
55612	FERMT1	HP:0001741	Phimosis
55612	FERMT1	HP:0000509	Conjunctivitis
55612	FERMT1	HP:0001807	Ridged nail
55617	TASP1	HP:0001156	Brachydactyly
55617	TASP1	HP:0001290	Generalized hypotonia
55617	TASP1	HP:0100814	Blue nevus
55617	TASP1	HP:0001250	Seizure
55617	TASP1	HP:0001263	Global developmental delay
55617	TASP1	HP:0002553	Highly arched eyebrow
55617	TASP1	HP:0000023	Inguinal hernia
55617	TASP1	HP:0000028	Cryptorchidism
55617	TASP1	HP:0000007	Autosomal recessive inheritance
55617	TASP1	HP:0000179	Thick lower lip vermilion
55617	TASP1	HP:0000154	Wide mouth
55617	TASP1	HP:0000126	Hydronephrosis
55617	TASP1	HP:0002714	Downturned corners of mouth
55617	TASP1	HP:0030939	Palpebral thickening
55617	TASP1	HP:0002057	Prominent glabella
55617	TASP1	HP:0010442	Polydactyly
55617	TASP1	HP:0003577	Congenital onset
55617	TASP1	HP:0002205	Recurrent respiratory infections
55617	TASP1	HP:0011968	Feeding difficulties
55617	TASP1	HP:0001007	Hirsutism
55617	TASP1	HP:0002307	Drooling
55617	TASP1	HP:0000646	Amblyopia
55617	TASP1	HP:0000629	Periorbital fullness
55617	TASP1	HP:0011335	Frontal hirsutism
55617	TASP1	HP:0000664	Synophrys
55617	TASP1	HP:0040082	Happy demeanor
55617	TASP1	HP:0000954	Single transverse palmar crease
55617	TASP1	HP:0000286	Epicanthus
55617	TASP1	HP:0030084	Clinodactyly
55617	TASP1	HP:0000252	Microcephaly
55617	TASP1	HP:0000219	Thin upper lip vermilion
55617	TASP1	HP:0000218	High palate
55617	TASP1	HP:0001508	Failure to thrive
55617	TASP1	HP:0000384	Preauricular skin tag
55617	TASP1	HP:0000396	Overfolded helix
55617	TASP1	HP:0000365	Hearing impairment
55617	TASP1	HP:0000369	Low-set ears
55617	TASP1	HP:0000343	Long philtrum
55617	TASP1	HP:0000319	Smooth philtrum
55617	TASP1	HP:0000316	Hypertelorism
55617	TASP1	HP:0001655	Patent foramen ovale
55617	TASP1	HP:0001629	Ventricular septal defect
55617	TASP1	HP:0000308	Microretrognathia
55617	TASP1	HP:0001631	Atrial septal defect
55617	TASP1	HP:0000486	Strabismus
55617	TASP1	HP:0000494	Downslanted palpebral fissures
55617	TASP1	HP:0000465	Webbed neck
55617	TASP1	HP:0000411	Protruding ear
55617	TASP1	HP:0000431	Wide nasal bridge
55617	TASP1	HP:0000574	Thick eyebrow
55617	TASP1	HP:0000540	Hypermetropia
55617	TASP1	HP:0000543	Optic disc pallor
55621	TRMT1	HP:0001272	Cerebellar atrophy
55621	TRMT1	HP:0001270	Motor delay
55621	TRMT1	HP:0001250	Seizure
55621	TRMT1	HP:0001252	Hypotonia
55621	TRMT1	HP:0001263	Global developmental delay
55621	TRMT1	HP:0001324	Muscle weakness
55621	TRMT1	HP:0000007	Autosomal recessive inheritance
55621	TRMT1	HP:0003593	Infantile onset
55621	TRMT1	HP:0000664	Synophrys
55621	TRMT1	HP:0006970	Periventricular leukomalacia
55621	TRMT1	HP:0031936	Delayed ability to walk
55621	TRMT1	HP:0000750	Delayed speech and language development
55621	TRMT1	HP:0045025	Narrow palpebral fissure
55621	TRMT1	HP:0000238	Hydrocephalus
55621	TRMT1	HP:0000252	Microcephaly
55621	TRMT1	HP:0001518	Small for gestational age
55621	TRMT1	HP:0000327	Hypoplasia of the maxilla
55621	TRMT1	HP:0001763	Pes planus
55621	TRMT1	HP:0000411	Protruding ear
55621	TRMT1	HP:0000431	Wide nasal bridge
55621	TRMT1	HP:0011229	Broad eyebrow
55623	THUMPD1	HP:0001274	Agenesis of corpus callosum
55623	THUMPD1	HP:0001249	Intellectual disability
55623	THUMPD1	HP:0001263	Global developmental delay
55623	THUMPD1	HP:0000007	Autosomal recessive inheritance
55623	THUMPD1	HP:0000154	Wide mouth
55623	THUMPD1	HP:0002000	Short columella
55623	THUMPD1	HP:0002007	Frontal bossing
55623	THUMPD1	HP:0003593	Infantile onset
55623	THUMPD1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
55623	THUMPD1	HP:0004322	Short stature
55623	THUMPD1	HP:0000750	Delayed speech and language development
55623	THUMPD1	HP:0030799	Scaphocephaly
55623	THUMPD1	HP:0045075	Sparse eyebrow
55623	THUMPD1	HP:0008070	Sparse hair
55623	THUMPD1	HP:0000286	Epicanthus
55623	THUMPD1	HP:0000252	Microcephaly
55623	THUMPD1	HP:0000219	Thin upper lip vermilion
55623	THUMPD1	HP:0000365	Hearing impairment
55623	THUMPD1	HP:0000369	Low-set ears
55623	THUMPD1	HP:0000319	Smooth philtrum
55623	THUMPD1	HP:0000316	Hypertelorism
55623	THUMPD1	HP:0000303	Mandibular prognathia
55623	THUMPD1	HP:0000494	Downslanted palpebral fissures
55623	THUMPD1	HP:0000508	Ptosis
55624	POMGNT1	HP:0001133	Constriction of peripheral visual field
55624	POMGNT1	HP:0002435	Meningocele
55624	POMGNT1	HP:0001105	Retinal atrophy
55624	POMGNT1	HP:0007260	Type II lissencephaly
55624	POMGNT1	HP:0007256	Abnormal pyramidal sign
55624	POMGNT1	HP:0010864	Intellectual disability, severe
55624	POMGNT1	HP:0007227	Macrogyria
55624	POMGNT1	HP:0003741	Congenital muscular dystrophy
55624	POMGNT1	HP:0003707	Calf muscle pseudohypertrophy
55624	POMGNT1	HP:0003701	Proximal muscle weakness
55624	POMGNT1	HP:0003712	Skeletal muscle hypertrophy
55624	POMGNT1	HP:0001290	Generalized hypotonia
55624	POMGNT1	HP:0001276	Hypertonia
55624	POMGNT1	HP:0001274	Agenesis of corpus callosum
55624	POMGNT1	HP:0001270	Motor delay
55624	POMGNT1	HP:0001288	Gait disturbance
55624	POMGNT1	HP:0001284	Areflexia
55624	POMGNT1	HP:0001256	Intellectual disability, mild
55624	POMGNT1	HP:0001250	Seizure
55624	POMGNT1	HP:0001252	Hypotonia
55624	POMGNT1	HP:0001249	Intellectual disability
55624	POMGNT1	HP:0001265	Hyporeflexia
55624	POMGNT1	HP:0001263	Global developmental delay
55624	POMGNT1	HP:0001257	Spasticity
55624	POMGNT1	HP:0008736	Hypoplasia of penis
55624	POMGNT1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
55624	POMGNT1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
55624	POMGNT1	HP:0002536	Abnormal cortical gyration
55624	POMGNT1	HP:0001347	Hyperreflexia
55624	POMGNT1	HP:0000035	Abnormal testis morphology
55624	POMGNT1	HP:0001360	Holoprosencephaly
55624	POMGNT1	HP:0000028	Cryptorchidism
55624	POMGNT1	HP:0001331	Absent septum pellucidum
55624	POMGNT1	HP:0001328	Specific learning disability
55624	POMGNT1	HP:0001324	Muscle weakness
55624	POMGNT1	HP:0001339	Lissencephaly
55624	POMGNT1	HP:0000007	Autosomal recessive inheritance
55624	POMGNT1	HP:0001336	Myoclonus
55624	POMGNT1	HP:0001305	Dandy-Walker malformation
55624	POMGNT1	HP:0001302	Pachygyria
55624	POMGNT1	HP:0001321	Cerebellar hypoplasia
55624	POMGNT1	HP:0001317	Abnormal cerebellum morphology
55624	POMGNT1	HP:0000193	Bifid uvula
55624	POMGNT1	HP:0000158	Macroglossia
55624	POMGNT1	HP:0000176	Submucous cleft hard palate
55624	POMGNT1	HP:0000175	Cleft palate
55624	POMGNT1	HP:0000135	Hypogonadism
55624	POMGNT1	HP:0007675	Progressive night blindness
55624	POMGNT1	HP:0007663	Reduced visual acuity
55624	POMGNT1	HP:0008981	Calf muscle hypertrophy
55624	POMGNT1	HP:0500087	Peripapillary atrophy
55624	POMGNT1	HP:0012110	Hypoplasia of the pons
55624	POMGNT1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
55624	POMGNT1	HP:0003307	Hyperlordosis
55624	POMGNT1	HP:0003324	Generalized muscle weakness
55624	POMGNT1	HP:0005978	Type II diabetes mellitus
55624	POMGNT1	HP:0011800	Midface retrusion
55624	POMGNT1	HP:0002085	Occipital encephalocele
55624	POMGNT1	HP:0100543	Cognitive impairment
55624	POMGNT1	HP:0003391	Gowers sign
55624	POMGNT1	HP:0002119	Ventriculomegaly
55624	POMGNT1	HP:0003457	EMG abnormality
55624	POMGNT1	HP:0002126	Polymicrogyria
55624	POMGNT1	HP:0002187	Intellectual disability, profound
55624	POMGNT1	HP:0002198	Dilated fourth ventricle
55624	POMGNT1	HP:0002169	Clonus
55624	POMGNT1	HP:0002167	Abnormality of speech or vocalization
55624	POMGNT1	HP:0010508	Metatarsus valgus
55624	POMGNT1	HP:0002269	Abnormality of neuronal migration
55624	POMGNT1	HP:0003577	Congenital onset
55624	POMGNT1	HP:0003551	Difficulty climbing stairs
55624	POMGNT1	HP:0003560	Muscular dystrophy
55624	POMGNT1	HP:0003557	Increased variability in muscle fiber diameter
55624	POMGNT1	HP:0002282	Gray matter heterotopia
55624	POMGNT1	HP:0007033	Cerebellar dysplasia
55624	POMGNT1	HP:0002365	Hypoplasia of the brainstem
55624	POMGNT1	HP:0002363	Abnormal brainstem morphology
55624	POMGNT1	HP:0003676	Progressive
55624	POMGNT1	HP:0002353	EEG abnormality
55624	POMGNT1	HP:0002350	Cerebellar cyst
55624	POMGNT1	HP:0002334	Abnormal cerebellar vermis morphology
55624	POMGNT1	HP:0007204	Diffuse white matter abnormalities
55624	POMGNT1	HP:0003621	Juvenile onset
55624	POMGNT1	HP:0006829	Severe muscular hypotonia
55624	POMGNT1	HP:0006899	Fusion of the cerebellar hemispheres
55624	POMGNT1	HP:0000639	Nystagmus
55624	POMGNT1	HP:0000648	Optic atrophy
55624	POMGNT1	HP:0000618	Blindness
55624	POMGNT1	HP:0000613	Photophobia
55624	POMGNT1	HP:0000612	Iris coloboma
55624	POMGNT1	HP:0000609	Optic nerve hypoplasia
55624	POMGNT1	HP:0000602	Ophthalmoplegia
55624	POMGNT1	HP:0012695	Decreased thalamic volume
55624	POMGNT1	HP:0011344	Severe global developmental delay
55624	POMGNT1	HP:0000662	Nyctalopia
55624	POMGNT1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
55624	POMGNT1	HP:0030631	Hyperautofluorescent macular lesion
55624	POMGNT1	HP:0006955	Olivopontocerebellar hypoplasia
55624	POMGNT1	HP:0004374	Hemiplegia/hemiparesis
55624	POMGNT1	HP:0100022	Abnormality of movement
55624	POMGNT1	HP:0003198	Myopathy
55624	POMGNT1	HP:0003194	Short nasal bridge
55624	POMGNT1	HP:0011505	Cystoid macular edema
55624	POMGNT1	HP:0000842	Hyperinsulinemia
55624	POMGNT1	HP:0040081	Abnormal circulating creatine kinase concentration
55624	POMGNT1	HP:0003236	Elevated circulating creatine kinase concentration
55624	POMGNT1	HP:0003202	Skeletal muscle atrophy
55624	POMGNT1	HP:0045040	Abnormal lactate dehydrogenase level
55624	POMGNT1	HP:0000980	Pallor
55624	POMGNT1	HP:0000987	Atypical scarring of skin
55624	POMGNT1	HP:0100297	Increased endomysial connective tissue
55624	POMGNT1	HP:0008045	Enlarged flash visual evoked potentials
55624	POMGNT1	HP:0008046	Abnormal retinal vascular morphology
55624	POMGNT1	HP:0007703	Abnormality of retinal pigmentation
55624	POMGNT1	HP:0000256	Macrocephaly
55624	POMGNT1	HP:0000272	Malar flattening
55624	POMGNT1	HP:0007770	Hypoplasia of the retina
55624	POMGNT1	HP:0007759	Opacification of the corneal stroma
55624	POMGNT1	HP:0007737	Bone spicule pigmentation of the retina
55624	POMGNT1	HP:0007738	Uncontrolled eye movements
55624	POMGNT1	HP:0007731	Chorioretinal dysplasia
55624	POMGNT1	HP:0030099	Reduced muscle fiber alpha dystroglycan
55624	POMGNT1	HP:0000238	Hydrocephalus
55624	POMGNT1	HP:0000252	Microcephaly
55624	POMGNT1	HP:0000232	Everted lower lip vermilion
55624	POMGNT1	HP:0030046	Hypoglycosylation of alpha-dystroglycan
55624	POMGNT1	HP:0001513	Obesity
55624	POMGNT1	HP:0012378	Fatigue
55624	POMGNT1	HP:0001608	Abnormality of the voice
55624	POMGNT1	HP:0002938	Lumbar hyperlordosis
55624	POMGNT1	HP:0000358	Posteriorly rotated ears
55624	POMGNT1	HP:0011003	High myopia
55624	POMGNT1	HP:0000369	Low-set ears
55624	POMGNT1	HP:0000347	Micrognathia
55624	POMGNT1	HP:0001638	Cardiomyopathy
55624	POMGNT1	HP:0007957	Corneal opacity
55624	POMGNT1	HP:0030329	Retinal thinning
55624	POMGNT1	HP:0007973	Retinal dysplasia
55624	POMGNT1	HP:0000407	Sensorineural hearing impairment
55624	POMGNT1	HP:0000405	Conductive hearing impairment
55624	POMGNT1	HP:0000486	Strabismus
55624	POMGNT1	HP:0000485	Megalocornea
55624	POMGNT1	HP:0000482	Microcornea
55624	POMGNT1	HP:0000463	Anteverted nares
55624	POMGNT1	HP:0012443	Abnormality of brain morphology
55624	POMGNT1	HP:0012400	Abnormal circulating aldolase concentration
55624	POMGNT1	HP:0000411	Protruding ear
55624	POMGNT1	HP:0000431	Wide nasal bridge
55624	POMGNT1	HP:0000518	Cataract
55624	POMGNT1	HP:0000512	Abnormal electroretinogram
55624	POMGNT1	HP:0000528	Anophthalmia
55624	POMGNT1	HP:0000525	Abnormality iris morphology
55624	POMGNT1	HP:0000505	Visual impairment
55624	POMGNT1	HP:0000501	Glaucoma
55624	POMGNT1	HP:0000587	Abnormal optic nerve morphology
55624	POMGNT1	HP:0000589	Coloboma
55624	POMGNT1	HP:0000563	Keratoconus
55624	POMGNT1	HP:0000557	Buphthalmos
55624	POMGNT1	HP:0000556	Retinal dystrophy
55624	POMGNT1	HP:0000568	Microphthalmia
55624	POMGNT1	HP:0000541	Retinal detachment
55624	POMGNT1	HP:0000550	Undetectable electroretinogram
55624	POMGNT1	HP:0000546	Retinal degeneration
55624	POMGNT1	HP:0000545	Myopia
55627	SMPD4	HP:0001181	Adducted thumb
55627	SMPD4	HP:0009879	Simplified gyral pattern
55627	SMPD4	HP:0001276	Hypertonia
55627	SMPD4	HP:0001250	Seizure
55627	SMPD4	HP:0001252	Hypotonia
55627	SMPD4	HP:0001263	Global developmental delay
55627	SMPD4	HP:0002553	Highly arched eyebrow
55627	SMPD4	HP:0000007	Autosomal recessive inheritance
55627	SMPD4	HP:0001321	Cerebellar hypoplasia
55627	SMPD4	HP:0002643	Neonatal respiratory distress
55627	SMPD4	HP:0000193	Bifid uvula
55627	SMPD4	HP:0002002	Deep philtrum
55627	SMPD4	HP:0003429	CNS hypomyelination
55627	SMPD4	HP:0011913	Lumbar hypertrichosis
55627	SMPD4	HP:0003561	Birth length less than 3rd percentile
55627	SMPD4	HP:0002365	Hypoplasia of the brainstem
55627	SMPD4	HP:0010804	Tented upper lip vermilion
55627	SMPD4	HP:0000601	Hypotelorism
55627	SMPD4	HP:0012745	Short palpebral fissure
55627	SMPD4	HP:0100336	Bilateral cleft lip
55627	SMPD4	HP:0000819	Diabetes mellitus
55627	SMPD4	HP:0000954	Single transverse palmar crease
55627	SMPD4	HP:0000286	Epicanthus
55627	SMPD4	HP:0000294	Low anterior hairline
55627	SMPD4	HP:0002804	Arthrogryposis multiplex congenita
55627	SMPD4	HP:0000253	Progressive microcephaly
55627	SMPD4	HP:0000252	Microcephaly
55627	SMPD4	HP:0000219	Thin upper lip vermilion
55627	SMPD4	HP:0000233	Thin vermilion border
55627	SMPD4	HP:0001522	Death in infancy
55627	SMPD4	HP:0001511	Intrauterine growth retardation
55627	SMPD4	HP:0000358	Posteriorly rotated ears
55627	SMPD4	HP:0000341	Narrow forehead
55627	SMPD4	HP:0000340	Sloping forehead
55627	SMPD4	HP:0000319	Smooth philtrum
55627	SMPD4	HP:0000322	Short philtrum
55627	SMPD4	HP:0001622	Premature birth
55627	SMPD4	HP:0000303	Mandibular prognathia
55627	SMPD4	HP:0006610	Wide intermamillary distance
55627	SMPD4	HP:0005280	Depressed nasal bridge
55627	SMPD4	HP:0000494	Downslanted palpebral fissures
55627	SMPD4	HP:0000470	Short neck
55627	SMPD4	HP:0000414	Bulbous nose
55627	SMPD4	HP:0000411	Protruding ear
55627	SMPD4	HP:0001838	Rocker bottom foot
55628	ZNF407	HP:0010864	Intellectual disability, severe
55628	ZNF407	HP:0001252	Hypotonia
55628	ZNF407	HP:0001263	Global developmental delay
55628	ZNF407	HP:0001212	Prominent fingertip pads
55628	ZNF407	HP:0025335	Delayed ability to stand
55628	ZNF407	HP:0000007	Autosomal recessive inheritance
55628	ZNF407	HP:0002650	Scoliosis
55628	ZNF407	HP:0001488	Bilateral ptosis
55628	ZNF407	HP:0002714	Downturned corners of mouth
55628	ZNF407	HP:0004689	Short fourth metatarsal
55628	ZNF407	HP:0011800	Midface retrusion
55628	ZNF407	HP:0003593	Infantile onset
55628	ZNF407	HP:0000664	Synophrys
55628	ZNF407	HP:0004322	Short stature
55628	ZNF407	HP:0005617	Bilateral camptodactyly
55628	ZNF407	HP:0031936	Delayed ability to walk
55628	ZNF407	HP:0000750	Delayed speech and language development
55628	ZNF407	HP:0000286	Epicanthus
55628	ZNF407	HP:0002808	Kyphosis
55628	ZNF407	HP:0000219	Thin upper lip vermilion
55628	ZNF407	HP:0030043	Hip subluxation
55628	ZNF407	HP:0001510	Growth delay
55628	ZNF407	HP:0000387	Absent earlobe
55628	ZNF407	HP:0000365	Hearing impairment
55628	ZNF407	HP:0000486	Strabismus
55628	ZNF407	HP:0000411	Protruding ear
55628	ZNF407	HP:0001845	Overlapping toe
55630	SLC39A4	HP:0100825	Cheilitis
55630	SLC39A4	HP:0001254	Lethargy
55630	SLC39A4	HP:0001251	Ataxia
55630	SLC39A4	HP:0008734	Decreased testicular size
55630	SLC39A4	HP:0000007	Autosomal recessive inheritance
55630	SLC39A4	HP:0001337	Tremor
55630	SLC39A4	HP:0000157	Abnormality of the tongue
55630	SLC39A4	HP:0000135	Hypogonadism
55630	SLC39A4	HP:0002024	Malabsorption
55630	SLC39A4	HP:0002028	Chronic diarrhea
55630	SLC39A4	HP:0002014	Diarrhea
55630	SLC39A4	HP:0033194	Perioral erythema
55630	SLC39A4	HP:0033195	Perianal erythema
55630	SLC39A4	HP:0002039	Anorexia
55630	SLC39A4	HP:0002120	Cerebral cortical atrophy
55630	SLC39A4	HP:0003593	Infantile onset
55630	SLC39A4	HP:0002240	Hepatomegaly
55630	SLC39A4	HP:0008402	Ridged fingernail
55630	SLC39A4	HP:0002293	Alopecia of scalp
55630	SLC39A4	HP:0200020	Corneal erosion
55630	SLC39A4	HP:0200039	Pustule
55630	SLC39A4	HP:0200042	Skin ulcer
55630	SLC39A4	HP:0010783	Erythema
55630	SLC39A4	HP:0031831	Decreased serum zinc
55630	SLC39A4	HP:0000613	Photophobia
55630	SLC39A4	HP:0011354	Generalized abnormality of skin
55630	SLC39A4	HP:0004322	Short stature
55630	SLC39A4	HP:0004396	Poor appetite
55630	SLC39A4	HP:0000737	Irritability
55630	SLC39A4	HP:0000712	Emotional lability
55630	SLC39A4	HP:0011463	Childhood onset
55630	SLC39A4	HP:0003282	Low alkaline phosphatase
55630	SLC39A4	HP:0000958	Dry skin
55630	SLC39A4	HP:0040171	Decreased serum testosterone concentration
55630	SLC39A4	HP:0008066	Abnormal blistering of the skin
55630	SLC39A4	HP:0001597	Abnormality of the nail
55630	SLC39A4	HP:0001596	Alopecia
55630	SLC39A4	HP:0000221	Furrowed tongue
55630	SLC39A4	HP:0000224	Hypogeusia
55630	SLC39A4	HP:0000206	Glossitis
55630	SLC39A4	HP:0001508	Failure to thrive
55630	SLC39A4	HP:0000498	Blepharitis
55630	SLC39A4	HP:0000492	Abnormal eyelid morphology
55630	SLC39A4	HP:0001744	Splenomegaly
55630	SLC39A4	HP:0005401	Recurrent candida infections
55630	SLC39A4	HP:0005435	Impaired T cell function
55630	SLC39A4	HP:0001824	Weight loss
55630	SLC39A4	HP:0000509	Conjunctivitis
55630	SLC39A4	HP:0000505	Visual impairment
55630	SLC39A4	HP:0001807	Ridged nail
55630	SLC39A4	HP:0001818	Paronychia
55630	SLC39A4	HP:0000534	Abnormal eyebrow morphology
55636	CHD7	HP:0001156	Brachydactyly
55636	CHD7	HP:0001161	Hand polydactyly
55636	CHD7	HP:0003782	Eunuchoid habitus
55636	CHD7	HP:0009906	Aplasia/Hypoplasia of the earlobes
55636	CHD7	HP:0008572	External ear malformation
55636	CHD7	HP:0008551	Microtia
55636	CHD7	HP:0003745	Sporadic
55636	CHD7	HP:0002410	Aqueductal stenosis
55636	CHD7	HP:0001291	Abnormal cranial nerve morphology
55636	CHD7	HP:0100806	Sepsis
55636	CHD7	HP:0001270	Motor delay
55636	CHD7	HP:0001288	Gait disturbance
55636	CHD7	HP:0001250	Seizure
55636	CHD7	HP:0001252	Hypotonia
55636	CHD7	HP:0001251	Ataxia
55636	CHD7	HP:0001249	Intellectual disability
55636	CHD7	HP:0001260	Dysarthria
55636	CHD7	HP:0001263	Global developmental delay
55636	CHD7	HP:0002575	Tracheoesophageal fistula
55636	CHD7	HP:0100840	Aplasia/Hypoplasia of the eyebrow
55636	CHD7	HP:0008734	Decreased testicular size
55636	CHD7	HP:0008736	Hypoplasia of penis
55636	CHD7	HP:0008724	Hypoplasia of the ovary
55636	CHD7	HP:0007360	Aplasia/Hypoplasia of the cerebellum
55636	CHD7	HP:0010978	Abnormality of immune system physiology
55636	CHD7	HP:0002553	Highly arched eyebrow
55636	CHD7	HP:0000089	Renal hypoplasia
55636	CHD7	HP:0000085	Horseshoe kidney
55636	CHD7	HP:0000066	Labial hypoplasia
55636	CHD7	HP:0000076	Vesicoureteral reflux
55636	CHD7	HP:0000044	Hypogonadotropic hypogonadism
55636	CHD7	HP:0000054	Micropenis
55636	CHD7	HP:0000050	Hypoplastic male external genitalia
55636	CHD7	HP:0012020	Right aortic arch
55636	CHD7	HP:0000048	Bifid scrotum
55636	CHD7	HP:0001360	Holoprosencephaly
55636	CHD7	HP:0000026	Male hypogonadism
55636	CHD7	HP:0000028	Cryptorchidism
55636	CHD7	HP:0000027	Azoospermia
55636	CHD7	HP:0008897	Postnatal growth retardation
55636	CHD7	HP:0007549	Desquamation of skin soon after birth
55636	CHD7	HP:0008872	Feeding difficulties in infancy
55636	CHD7	HP:0000002	Abnormality of body height
55636	CHD7	HP:0001324	Muscle weakness
55636	CHD7	HP:0000013	Hypoplasia of the uterus
55636	CHD7	HP:0000008	Abnormal morphology of female internal genitalia
55636	CHD7	HP:0001335	Bimanual synkinesia
55636	CHD7	HP:0002665	Lymphoma
55636	CHD7	HP:0001337	Tremor
55636	CHD7	HP:0000006	Autosomal dominant inheritance
55636	CHD7	HP:0001305	Dandy-Walker malformation
55636	CHD7	HP:0002652	Skeletal dysplasia
55636	CHD7	HP:0002650	Scoliosis
55636	CHD7	HP:0003974	Absent radius
55636	CHD7	HP:0002623	Overriding aorta
55636	CHD7	HP:0000164	Abnormality of the dentition
55636	CHD7	HP:0000160	Narrow mouth
55636	CHD7	HP:0000175	Cleft palate
55636	CHD7	HP:0000144	Decreased fertility
55636	CHD7	HP:0410030	Cleft lip
55636	CHD7	HP:0000118	Phenotypic abnormality
55636	CHD7	HP:0000134	Female hypogonadism
55636	CHD7	HP:0000126	Hydronephrosis
55636	CHD7	HP:0002761	Generalized joint laxity
55636	CHD7	HP:0000100	Nephrotic syndrome
55636	CHD7	HP:0002757	Recurrent fractures
55636	CHD7	HP:0000104	Renal agenesis
55636	CHD7	HP:0002750	Delayed skeletal maturation
55636	CHD7	HP:0002716	Lymphadenopathy
55636	CHD7	HP:0002025	Anal stenosis
55636	CHD7	HP:0002023	Anal atresia
55636	CHD7	HP:0002020	Gastroesophageal reflux
55636	CHD7	HP:0002032	Esophageal atresia
55636	CHD7	HP:0002028	Chronic diarrhea
55636	CHD7	HP:0002015	Dysphagia
55636	CHD7	HP:0002093	Respiratory insufficiency
55636	CHD7	HP:0002090	Pneumonia
55636	CHD7	HP:0010443	Bifid femur
55636	CHD7	HP:0008197	Absence of pubertal development
55636	CHD7	HP:0008187	Absence of secondary sex characteristics
55636	CHD7	HP:0002139	Arrhinencephaly
55636	CHD7	HP:0010550	Paraplegia
55636	CHD7	HP:0009556	Absent tibia
55636	CHD7	HP:0008213	Gonadotropin deficiency
55636	CHD7	HP:0010515	Aplasia/Hypoplasia of the thymus
55636	CHD7	HP:0003577	Congenital onset
55636	CHD7	HP:0002240	Hepatomegaly
55636	CHD7	HP:0002247	Duodenal atresia
55636	CHD7	HP:0002231	Sparse body hair
55636	CHD7	HP:0100736	Abnormal soft palate morphology
55636	CHD7	HP:0010669	Hypoplasia of the zygomatic bone
55636	CHD7	HP:0007018	Attention deficit hyperactivity disorder
55636	CHD7	HP:0011968	Feeding difficulties
55636	CHD7	HP:0011961	Non-obstructive azoospermia
55636	CHD7	HP:0010628	Facial palsy
55636	CHD7	HP:0001019	Erythroderma
55636	CHD7	HP:0001018	Abnormal palmar dermatoglyphics
55636	CHD7	HP:0100646	Thyroiditis
55636	CHD7	HP:0200021	Down-sloping shoulders
55636	CHD7	HP:0008527	Congenital sensorineural hearing impairment
55636	CHD7	HP:0009804	Tooth agenesis
55636	CHD7	HP:0001072	Thickened skin
55636	CHD7	HP:0100639	Erectile dysfunction
55636	CHD7	HP:0010751	Dimple chin
55636	CHD7	HP:0009778	Short thumb
55636	CHD7	HP:0004935	Pulmonary artery atresia
55636	CHD7	HP:0004209	Clinodactyly of the 5th finger
55636	CHD7	HP:0006824	Cranial nerve paralysis
55636	CHD7	HP:0000639	Nystagmus
55636	CHD7	HP:0000632	Lacrimation abnormality
55636	CHD7	HP:0000648	Optic atrophy
55636	CHD7	HP:0001974	Leukocytosis
55636	CHD7	HP:0000612	Iris coloboma
55636	CHD7	HP:0001945	Fever
55636	CHD7	HP:0000625	Eyelid coloboma
55636	CHD7	HP:0001903	Anemia
55636	CHD7	HP:0011382	Hypoplasia of the semicircular canal
55636	CHD7	HP:0011381	Aplasia of the semicircular canal
55636	CHD7	HP:0000684	Delayed eruption of teeth
55636	CHD7	HP:0004322	Short stature
55636	CHD7	HP:0004332	Abnormal lymphocyte morphology
55636	CHD7	HP:0030680	Abnormality of cardiovascular system morphology
55636	CHD7	HP:0000802	Impotence
55636	CHD7	HP:0003048	Radial head subluxation
55636	CHD7	HP:0003022	Hypoplasia of the ulna
55636	CHD7	HP:0004349	Reduced bone mineral density
55636	CHD7	HP:0004348	Abnormality of bone mineral density
55636	CHD7	HP:0000772	Abnormal rib morphology
55636	CHD7	HP:0000771	Gynecomastia
55636	CHD7	HP:0000739	Anxiety
55636	CHD7	HP:0000742	Self-mutilation
55636	CHD7	HP:0000716	Depression
55636	CHD7	HP:0000717	Autism
55636	CHD7	HP:0000722	Compulsive behaviors
55636	CHD7	HP:0011480	Unilateral microphthalmos
55636	CHD7	HP:0011461	Fetal onset
55636	CHD7	HP:0000786	Primary amenorrhea
55636	CHD7	HP:0030732	Dysplastic tricuspid valve
55636	CHD7	HP:0004430	Severe combined immunodeficiency
55636	CHD7	HP:0004409	Hyposmia
55636	CHD7	HP:0003187	Breast hypoplasia
55636	CHD7	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
55636	CHD7	HP:0000860	Parathyroid hypoplasia
55636	CHD7	HP:0000869	Secondary amenorrhea
55636	CHD7	HP:0000834	Abnormality of the adrenal glands
55636	CHD7	HP:0000830	Anterior hypopituitarism
55636	CHD7	HP:0000829	Hypoparathyroidism
55636	CHD7	HP:0000821	Hypothyroidism
55636	CHD7	HP:0000824	Decreased response to growth hormone stimulation test
55636	CHD7	HP:0000823	Delayed puberty
55636	CHD7	HP:0003241	External genital hypoplasia
55636	CHD7	HP:0000989	Pruritus
55636	CHD7	HP:0011611	Interrupted aortic arch
55636	CHD7	HP:0000958	Dry skin
55636	CHD7	HP:0000969	Edema
55636	CHD7	HP:0000939	Osteoporosis
55636	CHD7	HP:0000938	Osteopenia
55636	CHD7	HP:0000944	Abnormal metaphysis morphology
55636	CHD7	HP:0040171	Decreased serum testosterone concentration
55636	CHD7	HP:0008064	Ichthyosis
55636	CHD7	HP:0000286	Epicanthus
55636	CHD7	HP:0001596	Alopecia
55636	CHD7	HP:0000275	Narrow face
55636	CHD7	HP:0000272	Malar flattening
55636	CHD7	HP:0005113	Aortic arch aneurysm
55636	CHD7	HP:0000252	Microcephaly
55636	CHD7	HP:0001561	Polyhydramnios
55636	CHD7	HP:0030016	Dyspareunia
55636	CHD7	HP:0030019	Increased female libido
55636	CHD7	HP:0001537	Umbilical hernia
55636	CHD7	HP:0001539	Omphalocele
55636	CHD7	HP:0000204	Cleft upper lip
55636	CHD7	HP:0001508	Failure to thrive
55636	CHD7	HP:0001511	Intrauterine growth retardation
55636	CHD7	HP:0001513	Obesity
55636	CHD7	HP:0012385	Camptodactyly
55636	CHD7	HP:0000384	Preauricular skin tag
55636	CHD7	HP:0000378	Cupped ear
55636	CHD7	HP:0000396	Overfolded helix
55636	CHD7	HP:0000394	Lop ear
55636	CHD7	HP:0002937	Hemivertebrae
55636	CHD7	HP:0001608	Abnormality of the voice
55636	CHD7	HP:0001601	Laryngomalacia
55636	CHD7	HP:0002901	Hypocalcemia
55636	CHD7	HP:0000365	Hearing impairment
55636	CHD7	HP:0000359	Abnormality of the inner ear
55636	CHD7	HP:0000369	Low-set ears
55636	CHD7	HP:0000368	Low-set, posteriorly rotated ears
55636	CHD7	HP:0001671	Abnormal cardiac septum morphology
55636	CHD7	HP:0001684	Secundum atrial septal defect
55636	CHD7	HP:0000347	Micrognathia
55636	CHD7	HP:0000321	Square face
55636	CHD7	HP:0000316	Hypertelorism
55636	CHD7	HP:0001646	Abnormal aortic valve morphology
55636	CHD7	HP:0001643	Patent ductus arteriosus
55636	CHD7	HP:0001642	Pulmonic stenosis
55636	CHD7	HP:0002992	Abnormality of tibia morphology
55636	CHD7	HP:0000324	Facial asymmetry
55636	CHD7	HP:0002960	Autoimmunity
55636	CHD7	HP:0001629	Ventricular septal defect
55636	CHD7	HP:0001636	Tetralogy of Fallot
55636	CHD7	HP:0001631	Atrial septal defect
55636	CHD7	HP:0006610	Wide intermamillary distance
55636	CHD7	HP:0004058	Hand monodactyly
55636	CHD7	HP:0000407	Sensorineural hearing impairment
55636	CHD7	HP:0001719	Double outlet right ventricle
55636	CHD7	HP:0005280	Depressed nasal bridge
55636	CHD7	HP:0000486	Strabismus
55636	CHD7	HP:0000480	Retinal coloboma
55636	CHD7	HP:0000478	Abnormality of the eye
55636	CHD7	HP:0000494	Downslanted palpebral fissures
55636	CHD7	HP:0000458	Anosmia
55636	CHD7	HP:0000465	Webbed neck
55636	CHD7	HP:0001763	Pes planus
55636	CHD7	HP:0000453	Choanal atresia
55636	CHD7	HP:0001776	Bilateral talipes equinovarus
55636	CHD7	HP:0000410	Mixed hearing impairment
55636	CHD7	HP:0001744	Splenomegaly
55636	CHD7	HP:0001761	Pes cavus
55636	CHD7	HP:0000518	Cataract
55636	CHD7	HP:0000528	Anophthalmia
55636	CHD7	HP:0000508	Ptosis
55636	CHD7	HP:0000505	Visual impairment
55636	CHD7	HP:0000504	Abnormality of vision
55636	CHD7	HP:0001831	Short toe
55636	CHD7	HP:0000589	Coloboma
55636	CHD7	HP:0001888	Lymphopenia
55636	CHD7	HP:0000568	Microphthalmia
55636	CHD7	HP:0000567	Chorioretinal coloboma
55636	CHD7	HP:0001880	Eosinophilia
55636	CHD7	HP:0001883	Talipes
55636	CHD7	HP:0000551	Color vision defect
55640	FLVCR2	HP:0001274	Agenesis of corpus callosum
55640	FLVCR2	HP:0001250	Seizure
55640	FLVCR2	HP:0001263	Global developmental delay
55640	FLVCR2	HP:0000007	Autosomal recessive inheritance
55640	FLVCR2	HP:0001305	Dandy-Walker malformation
55640	FLVCR2	HP:0001321	Cerebellar hypoplasia
55640	FLVCR2	HP:0000175	Cleft palate
55640	FLVCR2	HP:0002119	Ventriculomegaly
55640	FLVCR2	HP:0002126	Polymicrogyria
55640	FLVCR2	HP:0003577	Congenital onset
55640	FLVCR2	HP:0001059	Pterygium
55640	FLVCR2	HP:0002365	Hypoplasia of the brainstem
55640	FLVCR2	HP:0002324	Hydranencephaly
55640	FLVCR2	HP:0002304	Akinesia
55640	FLVCR2	HP:0009004	Hypoplasia of the musculature
55640	FLVCR2	HP:0034392	Joint contracture
55640	FLVCR2	HP:0000238	Hydrocephalus
55640	FLVCR2	HP:0000252	Microcephaly
55640	FLVCR2	HP:0001561	Polyhydramnios
55640	FLVCR2	HP:0001511	Intrauterine growth retardation
55640	FLVCR2	HP:0000347	Micrognathia
55640	FLVCR2	HP:0001622	Premature birth
55640	FLVCR2	HP:0000476	Cystic hygroma
55640	FLVCR2	HP:0001883	Talipes
55644	OSGEP	HP:0001181	Adducted thumb
55644	OSGEP	HP:0001166	Arachnodactyly
55644	OSGEP	HP:0003774	Stage 5 chronic kidney disease
55644	OSGEP	HP:0009879	Simplified gyral pattern
55644	OSGEP	HP:0002410	Aqueductal stenosis
55644	OSGEP	HP:0001276	Hypertonia
55644	OSGEP	HP:0001272	Cerebellar atrophy
55644	OSGEP	HP:0001250	Seizure
55644	OSGEP	HP:0001252	Hypotonia
55644	OSGEP	HP:0001249	Intellectual disability
55644	OSGEP	HP:0001263	Global developmental delay
55644	OSGEP	HP:0001257	Spasticity
55644	OSGEP	HP:0010978	Abnormality of immune system physiology
55644	OSGEP	HP:0000096	Glomerular sclerosis
55644	OSGEP	HP:0000093	Proteinuria
55644	OSGEP	HP:0001339	Lissencephaly
55644	OSGEP	HP:0000007	Autosomal recessive inheritance
55644	OSGEP	HP:0001302	Pachygyria
55644	OSGEP	HP:0000164	Abnormality of the dentition
55644	OSGEP	HP:0000160	Narrow mouth
55644	OSGEP	HP:0000100	Nephrotic syndrome
55644	OSGEP	HP:0000112	Nephropathy
55644	OSGEP	HP:0002036	Hiatus hernia
55644	OSGEP	HP:0002007	Frontal bossing
55644	OSGEP	HP:0011800	Midface retrusion
55644	OSGEP	HP:0100543	Cognitive impairment
55644	OSGEP	HP:0002079	Hypoplasia of the corpus callosum
55644	OSGEP	HP:0002059	Cerebral atrophy
55644	OSGEP	HP:0002119	Ventriculomegaly
55644	OSGEP	HP:0100490	Camptodactyly of finger
55644	OSGEP	HP:0002269	Abnormality of neuronal migration
55644	OSGEP	HP:0003577	Congenital onset
55644	OSGEP	HP:0100720	Hypoplasia of the ear cartilage
55644	OSGEP	HP:0002353	EEG abnormality
55644	OSGEP	HP:0000639	Nystagmus
55644	OSGEP	HP:0001967	Diffuse mesangial sclerosis
55644	OSGEP	HP:0000601	Hypotelorism
55644	OSGEP	HP:0004322	Short stature
55644	OSGEP	HP:0003073	Hypoalbuminemia
55644	OSGEP	HP:0004374	Hemiplegia/hemiparesis
55644	OSGEP	HP:0000767	Pectus excavatum
55644	OSGEP	HP:0000750	Delayed speech and language development
55644	OSGEP	HP:0000822	Hypertension
55644	OSGEP	HP:0000969	Edema
55644	OSGEP	HP:0000286	Epicanthus
55644	OSGEP	HP:0005108	Abnormal intervertebral disk morphology
55644	OSGEP	HP:0002827	Hip dislocation
55644	OSGEP	HP:0000252	Microcephaly
55644	OSGEP	HP:0000218	High palate
55644	OSGEP	HP:0001562	Oligohydramnios
55644	OSGEP	HP:0001508	Failure to thrive
55644	OSGEP	HP:0001511	Intrauterine growth retardation
55644	OSGEP	HP:0012385	Camptodactyly
55644	OSGEP	HP:0000369	Low-set ears
55644	OSGEP	HP:0000341	Narrow forehead
55644	OSGEP	HP:0000340	Sloping forehead
55644	OSGEP	HP:0001680	Coarctation of aorta
55644	OSGEP	HP:0000347	Micrognathia
55644	OSGEP	HP:0000316	Hypertelorism
55644	OSGEP	HP:0001622	Premature birth
55644	OSGEP	HP:0000400	Macrotia
55644	OSGEP	HP:0000486	Strabismus
55644	OSGEP	HP:0000494	Downslanted palpebral fissures
55644	OSGEP	HP:0000490	Deeply set eye
55644	OSGEP	HP:0000505	Visual impairment
55644	OSGEP	HP:0000568	Microphthalmia
55650	PIGV	HP:0001182	Tapered finger
55650	PIGV	HP:0001195	Single umbilical artery
55650	PIGV	HP:0010864	Intellectual disability, severe
55650	PIGV	HP:0009882	Short distal phalanx of finger
55650	PIGV	HP:0010850	EEG with spike-wave complexes
55650	PIGV	HP:0001290	Generalized hypotonia
55650	PIGV	HP:0001288	Gait disturbance
55650	PIGV	HP:0001250	Seizure
55650	PIGV	HP:0001252	Hypotonia
55650	PIGV	HP:0001251	Ataxia
55650	PIGV	HP:0001249	Intellectual disability
55650	PIGV	HP:0001263	Global developmental delay
55650	PIGV	HP:0002558	Supernumerary nipple
55650	PIGV	HP:0006118	Shortening of all distal phalanges of the fingers
55650	PIGV	HP:0002553	Highly arched eyebrow
55650	PIGV	HP:0001216	Delayed ossification of carpal bones
55650	PIGV	HP:0001385	Hip dysplasia
55650	PIGV	HP:0002696	Abnormal parietal bone morphology
55650	PIGV	HP:0001357	Plagiocephaly
55650	PIGV	HP:0001344	Absent speech
55650	PIGV	HP:0000007	Autosomal recessive inheritance
55650	PIGV	HP:0001336	Myoclonus
55650	PIGV	HP:0002650	Scoliosis
55650	PIGV	HP:0001315	Reduced tendon reflexes
55650	PIGV	HP:0000193	Bifid uvula
55650	PIGV	HP:0000175	Cleft palate
55650	PIGV	HP:0008947	Infantile muscular hypotonia
55650	PIGV	HP:0000126	Hydronephrosis
55650	PIGV	HP:0002714	Downturned corners of mouth
55650	PIGV	HP:0002019	Constipation
55650	PIGV	HP:0002034	Abnormal rectum morphology
55650	PIGV	HP:0011800	Midface retrusion
55650	PIGV	HP:0002069	Bilateral tonic-clonic seizure
55650	PIGV	HP:0002120	Cerebral cortical atrophy
55650	PIGV	HP:0002251	Aganglionic megacolon
55650	PIGV	HP:0011968	Feeding difficulties
55650	PIGV	HP:0002392	EEG with polyspike wave complexes
55650	PIGV	HP:0002342	Intellectual disability, moderate
55650	PIGV	HP:0001009	Telangiectasia
55650	PIGV	HP:0010804	Tented upper lip vermilion
55650	PIGV	HP:0001090	Abnormally large globe
55650	PIGV	HP:0002305	Athetosis
55650	PIGV	HP:0006808	Cerebral hypomyelination
55650	PIGV	HP:0000637	Long palpebral fissure
55650	PIGV	HP:0000657	Oculomotor apraxia
55650	PIGV	HP:0001999	Abnormal facial shape
55650	PIGV	HP:0000767	Pectus excavatum
55650	PIGV	HP:0000750	Delayed speech and language development
55650	PIGV	HP:0000729	Autistic behavior
55650	PIGV	HP:0011471	Gastrostomy tube feeding in infancy
55650	PIGV	HP:0003196	Short nose
55650	PIGV	HP:0003155	Elevated circulating alkaline phosphatase concentration
55650	PIGV	HP:0040194	Increased head circumference
55650	PIGV	HP:0040195	Decreased head circumference
55650	PIGV	HP:0000286	Epicanthus
55650	PIGV	HP:0000280	Coarse facial features
55650	PIGV	HP:0000289	Broad philtrum
55650	PIGV	HP:0000272	Malar flattening
55650	PIGV	HP:0030084	Clinodactyly
55650	PIGV	HP:0000238	Hydrocephalus
55650	PIGV	HP:0000248	Brachycephaly
55650	PIGV	HP:0012210	Abnormal renal morphology
55650	PIGV	HP:0000219	Thin upper lip vermilion
55650	PIGV	HP:0000218	High palate
55650	PIGV	HP:0001545	Anteriorly placed anus
55650	PIGV	HP:0001562	Oligohydramnios
55650	PIGV	HP:0000204	Cleft upper lip
55650	PIGV	HP:0001510	Growth delay
55650	PIGV	HP:0000378	Cupped ear
55650	PIGV	HP:0000391	Thickened helices
55650	PIGV	HP:0000365	Hearing impairment
55650	PIGV	HP:0000358	Posteriorly rotated ears
55650	PIGV	HP:0000347	Micrognathia
55650	PIGV	HP:0000316	Hypertelorism
55650	PIGV	HP:0000311	Round face
55650	PIGV	HP:0000322	Short philtrum
55650	PIGV	HP:0001627	Abnormal heart morphology
55650	PIGV	HP:0000303	Mandibular prognathia
55650	PIGV	HP:0000407	Sensorineural hearing impairment
55650	PIGV	HP:0001792	Small nail
55650	PIGV	HP:0001795	Hyperconvex nail
55650	PIGV	HP:0012448	Delayed myelination
55650	PIGV	HP:0000455	Broad nasal tip
55650	PIGV	HP:0000470	Short neck
55650	PIGV	HP:0000414	Bulbous nose
55650	PIGV	HP:0000431	Wide nasal bridge
55650	PIGV	HP:0000426	Prominent nasal bridge
55650	PIGV	HP:0001831	Short toe
55650	PIGV	HP:0000582	Upslanted palpebral fissure
55650	PIGV	HP:0000594	Shallow anterior chamber
55650	PIGV	HP:0000565	Esotropia
55650	PIGV	HP:0000540	Hypermetropia
55651	NHP2	HP:0009926	Epiphora
55651	NHP2	HP:0010885	Avascular necrosis
55651	NHP2	HP:0001249	Intellectual disability
55651	NHP2	HP:0001263	Global developmental delay
55651	NHP2	HP:0001231	Abnormal fingernail morphology
55651	NHP2	HP:0002575	Tracheoesophageal fistula
55651	NHP2	HP:0007427	Reticulated skin pigmentation
55651	NHP2	HP:0008661	Urethral stenosis
55651	NHP2	HP:0002514	Cerebral calcification
55651	NHP2	HP:0001399	Hepatic failure
55651	NHP2	HP:0001395	Hepatic fibrosis
55651	NHP2	HP:0001394	Cirrhosis
55651	NHP2	HP:0000035	Abnormal testis morphology
55651	NHP2	HP:0000029	Testicular atrophy
55651	NHP2	HP:0002664	Neoplasm
55651	NHP2	HP:0000008	Abnormal morphology of female internal genitalia
55651	NHP2	HP:0000007	Autosomal recessive inheritance
55651	NHP2	HP:0002665	Lymphoma
55651	NHP2	HP:0002650	Scoliosis
55651	NHP2	HP:0000164	Abnormality of the dentition
55651	NHP2	HP:0007588	Reticular hyperpigmentation
55651	NHP2	HP:0002757	Recurrent fractures
55651	NHP2	HP:0002745	Oral leukoplakia
55651	NHP2	HP:0002024	Malabsorption
55651	NHP2	HP:0002043	Esophageal stricture
55651	NHP2	HP:0010450	Esophageal stenosis
55651	NHP2	HP:0100585	Telangiectasia of the skin
55651	NHP2	HP:0002165	Pterygium of nails
55651	NHP2	HP:0002240	Hepatomegaly
55651	NHP2	HP:0002216	Premature graying of hair
55651	NHP2	HP:0002209	Sparse scalp hair
55651	NHP2	HP:0002205	Recurrent respiratory infections
55651	NHP2	HP:0002206	Pulmonary fibrosis
55651	NHP2	HP:0008404	Nail dystrophy
55651	NHP2	HP:0010624	Aplastic/hypoplastic toenail
55651	NHP2	HP:0001053	Hypopigmented skin patches
55651	NHP2	HP:0001059	Pterygium
55651	NHP2	HP:0001034	Hypermelanotic macule
55651	NHP2	HP:0200037	Skin vesicle
55651	NHP2	HP:0100670	Coarse metaphyseal trabecularization
55651	NHP2	HP:0100627	Displacement of the urethral meatus
55651	NHP2	HP:0200042	Skin ulcer
55651	NHP2	HP:0003621	Juvenile onset
55651	NHP2	HP:0005528	Bone marrow hypocellularity
55651	NHP2	HP:0001928	Abnormality of coagulation
55651	NHP2	HP:0000600	Abnormality of the pharynx
55651	NHP2	HP:0001903	Anemia
55651	NHP2	HP:0001915	Aplastic anemia
55651	NHP2	HP:0011364	White hair
55651	NHP2	HP:0000679	Taurodontia
55651	NHP2	HP:0000691	Microdontia
55651	NHP2	HP:0000653	Sparse eyelashes
55651	NHP2	HP:0000670	Carious teeth
55651	NHP2	HP:0000668	Hypodontia
55651	NHP2	HP:0004322	Short stature
55651	NHP2	HP:0012732	Anorectal anomaly
55651	NHP2	HP:0012733	Macule
55651	NHP2	HP:0000704	Periodontitis
55651	NHP2	HP:0000819	Diabetes mellitus
55651	NHP2	HP:0000975	Hyperhidrosis
55651	NHP2	HP:0000972	Palmoplantar hyperkeratosis
55651	NHP2	HP:0000982	Palmoplantar keratoderma
55651	NHP2	HP:0000953	Hyperpigmentation of the skin
55651	NHP2	HP:0000939	Osteoporosis
55651	NHP2	HP:0008070	Sparse hair
55651	NHP2	HP:0008065	Aplasia/Hypoplasia of the skin
55651	NHP2	HP:0008066	Abnormal blistering of the skin
55651	NHP2	HP:0001596	Alopecia
55651	NHP2	HP:0000252	Microcephaly
55651	NHP2	HP:0002894	Neoplasm of the pancreas
55651	NHP2	HP:0001511	Intrauterine growth retardation
55651	NHP2	HP:0001510	Growth delay
55651	NHP2	HP:0000365	Hearing impairment
55651	NHP2	HP:0000327	Hypoplasia of the maxilla
55651	NHP2	HP:0000499	Abnormal eyelash morphology
55651	NHP2	HP:0000498	Blepharitis
55651	NHP2	HP:0005374	Cellular immunodeficiency
55651	NHP2	HP:0001792	Small nail
55651	NHP2	HP:0001744	Splenomegaly
55651	NHP2	HP:0000518	Cataract
55651	NHP2	HP:0005390	Recurrent opportunistic infections
55651	NHP2	HP:0000579	Nasolacrimal duct obstruction
55651	NHP2	HP:0000534	Abnormal eyebrow morphology
55651	NHP2	HP:0001874	Abnormality of neutrophils
55651	NHP2	HP:0001873	Thrombocytopenia
55651	NHP2	HP:0001876	Pancytopenia
55654	TMEM127	HP:0008629	Pulsatile tinnitus
55654	TMEM127	HP:0025269	Panic attack
55654	TMEM127	HP:0001293	Cranial nerve compression
55654	TMEM127	HP:0002574	Episodic abdominal pain
55654	TMEM127	HP:0000096	Glomerular sclerosis
55654	TMEM127	HP:0000093	Proteinuria
55654	TMEM127	HP:0002664	Neoplasm
55654	TMEM127	HP:0001342	Cerebral hemorrhage
55654	TMEM127	HP:0002668	Paraganglioma
55654	TMEM127	HP:0001337	Tremor
55654	TMEM127	HP:0000006	Autosomal dominant inheritance
55654	TMEM127	HP:0002666	Pheochromocytoma
55654	TMEM127	HP:0002640	Hypertension associated with pheochromocytoma
55654	TMEM127	HP:0031284	Flushing
55654	TMEM127	HP:0002018	Nausea
55654	TMEM127	HP:0003345	Elevated urinary norepinephrine
55654	TMEM127	HP:0011703	Sinus tachycardia
55654	TMEM127	HP:0010532	Paroxysmal vertigo
55654	TMEM127	HP:0003574	Positive regitine blocking test
55654	TMEM127	HP:0003528	Elevated calcitonin
55654	TMEM127	HP:0009711	Retinal capillary hemangioma
55654	TMEM127	HP:0100749	Chest pain
55654	TMEM127	HP:0011979	Elevated urinary dopamine
55654	TMEM127	HP:0001069	Episodic hyperhidrosis
55654	TMEM127	HP:0001028	Hemangioma
55654	TMEM127	HP:0002331	Recurrent paroxysmal headache
55654	TMEM127	HP:0001095	Hypertensive retinopathy
55654	TMEM127	HP:0003639	Elevated urinary epinephrine
55654	TMEM127	HP:0005584	Renal cell carcinoma
55654	TMEM127	HP:0001962	Palpitations
55654	TMEM127	HP:0001920	Renal artery stenosis
55654	TMEM127	HP:0003072	Hypercalcemia
55654	TMEM127	HP:0000740	Episodic paroxysmal anxiety
55654	TMEM127	HP:0000790	Hematuria
55654	TMEM127	HP:0000875	Episodic hypertension
55654	TMEM127	HP:0000980	Pallor
55654	TMEM127	HP:0000975	Hyperhidrosis
55654	TMEM127	HP:0000957	Cafe-au-lait spot
55654	TMEM127	HP:0012222	Arachnoid hemangiomatosis
55654	TMEM127	HP:0002864	Paraganglioma of head and neck
55654	TMEM127	HP:0012378	Fatigue
55654	TMEM127	HP:0001605	Vocal cord paralysis
55654	TMEM127	HP:0001618	Dysphonia
55654	TMEM127	HP:0001649	Tachycardia
55654	TMEM127	HP:0001635	Congestive heart failure
55654	TMEM127	HP:0000405	Conductive hearing impairment
55654	TMEM127	HP:0006748	Adrenal pheochromocytoma
55654	TMEM127	HP:0006737	Extraadrenal pheochromocytoma
55654	TMEM127	HP:0000519	Developmental cataract
55654	TMEM127	HP:0000526	Aniridia
55654	TMEM127	HP:0001824	Weight loss
55656	INTS8	HP:0001250	Seizure
55656	INTS8	HP:0001263	Global developmental delay
55656	INTS8	HP:0001258	Spastic paraplegia
55656	INTS8	HP:0032388	Periventricular nodular heterotopia
55656	INTS8	HP:0002540	Inability to walk
55656	INTS8	HP:0001344	Absent speech
55656	INTS8	HP:0000007	Autosomal recessive inheritance
55656	INTS8	HP:0001321	Cerebellar hypoplasia
55656	INTS8	HP:0002057	Prominent glabella
55656	INTS8	HP:0000648	Optic atrophy
55656	INTS8	HP:0004322	Short stature
55656	INTS8	HP:0000252	Microcephaly
55656	INTS8	HP:0000316	Hypertelorism
55656	INTS8	HP:0001845	Overlapping toe
55670	PEX26	HP:0001133	Constriction of peripheral visual field
55670	PEX26	HP:0008572	External ear malformation
55670	PEX26	HP:0009891	Underdeveloped supraorbital ridges
55670	PEX26	HP:0001250	Seizure
55670	PEX26	HP:0001252	Hypotonia
55670	PEX26	HP:0001251	Ataxia
55670	PEX26	HP:0001263	Global developmental delay
55670	PEX26	HP:0001257	Spasticity
55670	PEX26	HP:0008665	Clitoral hypertrophy
55670	PEX26	HP:0001399	Hepatic failure
55670	PEX26	HP:0001392	Abnormality of the liver
55670	PEX26	HP:0000047	Hypospadias
55670	PEX26	HP:0001347	Hyperreflexia
55670	PEX26	HP:0000028	Cryptorchidism
55670	PEX26	HP:0008872	Feeding difficulties in infancy
55670	PEX26	HP:0000007	Autosomal recessive inheritance
55670	PEX26	HP:0000003	Multicystic kidney dysplasia
55670	PEX26	HP:0002652	Skeletal dysplasia
55670	PEX26	HP:0001319	Neonatal hypotonia
55670	PEX26	HP:0001315	Reduced tendon reflexes
55670	PEX26	HP:0000157	Abnormality of the tongue
55670	PEX26	HP:0000174	Abnormal palate morphology
55670	PEX26	HP:0008935	Generalized neonatal hypotonia
55670	PEX26	HP:0007598	Bilateral single transverse palmar creases
55670	PEX26	HP:0000126	Hydronephrosis
55670	PEX26	HP:0001410	Decreased liver function
55670	PEX26	HP:0002024	Malabsorption
55670	PEX26	HP:0002021	Pyloric stenosis
55670	PEX26	HP:0003323	Progressive muscle weakness
55670	PEX26	HP:0100543	Cognitive impairment
55670	PEX26	HP:0002093	Respiratory insufficiency
55670	PEX26	HP:0005930	Abnormal epiphysis morphology
55670	PEX26	HP:0008167	Very long chain fatty acid accumulation
55670	PEX26	HP:0002126	Polymicrogyria
55670	PEX26	HP:0010571	Elevated circulating phytanic acid concentration
55670	PEX26	HP:0008207	Primary adrenal insufficiency
55670	PEX26	HP:0002269	Abnormality of neuronal migration
55670	PEX26	HP:0003577	Congenital onset
55670	PEX26	HP:0002240	Hepatomegaly
55670	PEX26	HP:0010655	Epiphyseal stippling
55670	PEX26	HP:0011968	Feeding difficulties
55670	PEX26	HP:0010628	Facial palsy
55670	PEX26	HP:0002376	Developmental regression
55670	PEX26	HP:0002353	EEG abnormality
55670	PEX26	HP:0001088	Brushfield spots
55670	PEX26	HP:0006829	Severe muscular hypotonia
55670	PEX26	HP:0000639	Nystagmus
55670	PEX26	HP:0000648	Optic atrophy
55670	PEX26	HP:0000627	Posterior embryotoxon
55670	PEX26	HP:0001928	Abnormality of coagulation
55670	PEX26	HP:0001939	Abnormality of metabolism/homeostasis
55670	PEX26	HP:0011344	Severe global developmental delay
55670	PEX26	HP:0000662	Nyctalopia
55670	PEX26	HP:0004322	Short stature
55670	PEX26	HP:0012736	Profound global developmental delay
55670	PEX26	HP:0100022	Abnormality of movement
55670	PEX26	HP:0000708	Atypical behavior
55670	PEX26	HP:0034298	Elevated circulating hexacosanoic acid concentration
55670	PEX26	HP:0034297	Elevated circulating tetracosanoic acid concentration
55670	PEX26	HP:0004491	Large posterior fontanelle
55670	PEX26	HP:0000952	Jaundice
55670	PEX26	HP:0008064	Ichthyosis
55670	PEX26	HP:0011675	Arrhythmia
55670	PEX26	HP:0007703	Abnormality of retinal pigmentation
55670	PEX26	HP:0000286	Epicanthus
55670	PEX26	HP:0000260	Wide anterior fontanel
55670	PEX26	HP:0000256	Macrocephaly
55670	PEX26	HP:0000271	Abnormality of the face
55670	PEX26	HP:0000268	Dolichocephaly
55670	PEX26	HP:0000252	Microcephaly
55670	PEX26	HP:0000218	High palate
55670	PEX26	HP:0001522	Death in infancy
55670	PEX26	HP:0001508	Failure to thrive
55670	PEX26	HP:0012368	Flat face
55670	PEX26	HP:0000365	Hearing impairment
55670	PEX26	HP:0000358	Posteriorly rotated ears
55670	PEX26	HP:0000369	Low-set ears
55670	PEX26	HP:0000368	Low-set, posteriorly rotated ears
55670	PEX26	HP:0000343	Long philtrum
55670	PEX26	HP:0000348	High forehead
55670	PEX26	HP:0000347	Micrognathia
55670	PEX26	HP:0001629	Ventricular septal defect
55670	PEX26	HP:0001622	Premature birth
55670	PEX26	HP:0001638	Cardiomyopathy
55670	PEX26	HP:0007957	Corneal opacity
55670	PEX26	HP:0000407	Sensorineural hearing impairment
55670	PEX26	HP:0005280	Depressed nasal bridge
55670	PEX26	HP:0000486	Strabismus
55670	PEX26	HP:0000463	Anteverted nares
55670	PEX26	HP:0000474	Thickened nuchal skin fold
55670	PEX26	HP:0001762	Talipes equinovarus
55670	PEX26	HP:0000431	Wide nasal bridge
55670	PEX26	HP:0005469	Flat occiput
55670	PEX26	HP:0000518	Cataract
55670	PEX26	HP:0000510	Rod-cone dystrophy
55670	PEX26	HP:0000508	Ptosis
55670	PEX26	HP:0000505	Visual impairment
55670	PEX26	HP:0000501	Glaucoma
55670	PEX26	HP:0000582	Upslanted palpebral fissure
55670	PEX26	HP:0000556	Retinal dystrophy
55670	PEX26	HP:0000532	Abnormal chorioretinal morphology
55679	LIMS2	HP:0001324	Muscle weakness
55679	LIMS2	HP:0000007	Autosomal recessive inheritance
55679	LIMS2	HP:0000158	Macroglossia
55679	LIMS2	HP:0008981	Calf muscle hypertrophy
55679	LIMS2	HP:0002273	Tetraparesis
55679	LIMS2	HP:0003560	Muscular dystrophy
55679	LIMS2	HP:0003676	Progressive
55679	LIMS2	HP:0009025	Increased connective tissue
55679	LIMS2	HP:0011463	Childhood onset
55679	LIMS2	HP:0003236	Elevated circulating creatine kinase concentration
55679	LIMS2	HP:0003202	Skeletal muscle atrophy
55679	LIMS2	HP:0001644	Dilated cardiomyopathy
55679	LIMS2	HP:0006673	Reduced systolic function
55679	LIMS2	HP:0030284	Triangular tongue
55679	LIMS2	HP:0001762	Talipes equinovarus
55681	SCYL2	HP:0001188	Hand clenching
55681	SCYL2	HP:0001274	Agenesis of corpus callosum
55681	SCYL2	HP:0001284	Areflexia
55681	SCYL2	HP:0001250	Seizure
55681	SCYL2	HP:0001263	Global developmental delay
55681	SCYL2	HP:0001257	Spasticity
55681	SCYL2	HP:0001239	Wrist flexion contracture
55681	SCYL2	HP:0410263	Brain imaging abnormality
55681	SCYL2	HP:0007340	Lower limb muscle weakness
55681	SCYL2	HP:0003819	Death in childhood
55681	SCYL2	HP:0008807	Acetabular dysplasia
55681	SCYL2	HP:0001371	Flexion contracture
55681	SCYL2	HP:0001357	Plagiocephaly
55681	SCYL2	HP:0000028	Cryptorchidism
55681	SCYL2	HP:0008872	Feeding difficulties in infancy
55681	SCYL2	HP:0007477	Abnormal dermatoglyphics
55681	SCYL2	HP:0000007	Autosomal recessive inheritance
55681	SCYL2	HP:0002650	Scoliosis
55681	SCYL2	HP:0000160	Narrow mouth
55681	SCYL2	HP:0012104	Parietal cortical atrophy
55681	SCYL2	HP:0002747	Respiratory insufficiency due to muscle weakness
55681	SCYL2	HP:0002098	Respiratory distress
55681	SCYL2	HP:0002058	Myopathic facies
55681	SCYL2	HP:0008110	Equinovarus deformity
55681	SCYL2	HP:0008180	Mildly elevated creatine kinase
55681	SCYL2	HP:0003484	Upper limb muscle weakness
55681	SCYL2	HP:0003444	EMG: chronic denervation signs
55681	SCYL2	HP:0011968	Feeding difficulties
55681	SCYL2	HP:0002380	Fasciculations
55681	SCYL2	HP:0010781	Skin dimple
55681	SCYL2	HP:0000648	Optic atrophy
55681	SCYL2	HP:0006913	Frontal cortical atrophy
55681	SCYL2	HP:0030799	Scaphocephaly
55681	SCYL2	HP:0003202	Skeletal muscle atrophy
55681	SCYL2	HP:0003273	Hip contracture
55681	SCYL2	HP:0006466	Ankle flexion contracture
55681	SCYL2	HP:0002827	Hip dislocation
55681	SCYL2	HP:0002804	Arthrogryposis multiplex congenita
55681	SCYL2	HP:0006380	Knee flexion contracture
55681	SCYL2	HP:0000252	Microcephaly
55681	SCYL2	HP:0001562	Oligohydramnios
55681	SCYL2	HP:0001561	Polyhydramnios
55681	SCYL2	HP:0000233	Thin vermilion border
55681	SCYL2	HP:0001558	Decreased fetal movement
55681	SCYL2	HP:0001522	Death in infancy
55681	SCYL2	HP:0000369	Low-set ears
55681	SCYL2	HP:0000347	Micrognathia
55681	SCYL2	HP:0000316	Hypertelorism
55681	SCYL2	HP:0002987	Elbow flexion contracture
55681	SCYL2	HP:0001627	Abnormal heart morphology
55681	SCYL2	HP:0001623	Breech presentation
55681	SCYL2	HP:0005280	Depressed nasal bridge
55681	SCYL2	HP:0000470	Short neck
55681	SCYL2	HP:0000414	Bulbous nose
55681	SCYL2	HP:0001838	Rocker bottom foot
55681	SCYL2	HP:0011220	Prominent forehead
55687	TRMU	HP:0001290	Generalized hypotonia
55687	TRMU	HP:0001252	Hypotonia
55687	TRMU	HP:0001265	Hyporeflexia
55687	TRMU	HP:0001392	Abnormality of the liver
55687	TRMU	HP:0008872	Feeding difficulties in infancy
55687	TRMU	HP:0001324	Muscle weakness
55687	TRMU	HP:0000007	Autosomal recessive inheritance
55687	TRMU	HP:0000158	Macroglossia
55687	TRMU	HP:0001427	Mitochondrial inheritance
55687	TRMU	HP:0001403	Macrovesicular hepatic steatosis
55687	TRMU	HP:0001414	Microvesicular hepatic steatosis
55687	TRMU	HP:0002033	Poor suck
55687	TRMU	HP:0002013	Vomiting
55687	TRMU	HP:0005946	Ventilator dependence with inability to wean
55687	TRMU	HP:0002098	Respiratory distress
55687	TRMU	HP:0008180	Mildly elevated creatine kinase
55687	TRMU	HP:0008160	3-hydroxydicarboxylic aciduria
55687	TRMU	HP:0008151	Prolonged prothrombin time
55687	TRMU	HP:0002151	Increased serum lactate
55687	TRMU	HP:0011923	Decreased activity of mitochondrial complex I
55687	TRMU	HP:0002194	Delayed gross motor development
55687	TRMU	HP:0003593	Infantile onset
55687	TRMU	HP:0002240	Hepatomegaly
55687	TRMU	HP:0004887	Respiratory failure requiring assisted ventilation
55687	TRMU	HP:0200125	Mitochondrial respiratory chain defects
55687	TRMU	HP:0011975	Aminoglycoside-induced hearing loss
55687	TRMU	HP:0003688	Cytochrome C oxidase-negative muscle fibers
55687	TRMU	HP:0003648	Lacticaciduria
55687	TRMU	HP:0003623	Neonatal onset
55687	TRMU	HP:0004900	Severe lactic acidosis
55687	TRMU	HP:0009051	Increased muscle glycogen content
55687	TRMU	HP:0009058	Increased muscle lipid content
55687	TRMU	HP:0004315	Decreased circulating IgG level
55687	TRMU	HP:0031964	Elevated circulating alanine aminotransferase concentration
55687	TRMU	HP:0003073	Hypoalbuminemia
55687	TRMU	HP:0000737	Irritability
55687	TRMU	HP:0000707	Abnormality of the nervous system
55687	TRMU	HP:0011470	Nasogastric tube feeding in infancy
55687	TRMU	HP:0003198	Myopathy
55687	TRMU	HP:0003128	Lactic acidosis
55687	TRMU	HP:0003234	Decreased plasma carnitine
55687	TRMU	HP:0003215	Dicarboxylic aciduria
55687	TRMU	HP:0003200	Ragged-red muscle fibers
55687	TRMU	HP:0003270	Abdominal distention
55687	TRMU	HP:0000952	Jaundice
55687	TRMU	HP:0000218	High palate
55687	TRMU	HP:0001522	Death in infancy
55687	TRMU	HP:0006554	Acute hepatic failure
55687	TRMU	HP:0002910	Elevated hepatic transaminase
55687	TRMU	HP:0002904	Hyperbilirubinemia
55687	TRMU	HP:0001626	Abnormality of the cardiovascular system
55689	YEATS2	HP:0001250	Seizure
55689	YEATS2	HP:0001249	Intellectual disability
55689	YEATS2	HP:0007359	Focal-onset seizure
55689	YEATS2	HP:0001351	Jerk-locked premyoclonus spikes
55689	YEATS2	HP:0001340	Enhancement of the C-reflex
55689	YEATS2	HP:0001337	Tremor
55689	YEATS2	HP:0000006	Autosomal dominant inheritance
55689	YEATS2	HP:0001336	Myoclonus
55689	YEATS2	HP:0002069	Bilateral tonic-clonic seizure
55689	YEATS2	HP:0100576	Amaurosis fugax
55689	YEATS2	HP:0002197	Generalized-onset seizure
55689	YEATS2	HP:0002392	EEG with polyspike wave complexes
55689	YEATS2	HP:0002378	Hand tremor
55689	YEATS2	HP:0002353	EEG abnormality
55689	YEATS2	HP:0003680	Nonprogressive
55689	YEATS2	HP:0002315	Headache
55689	YEATS2	HP:0003621	Juvenile onset
55689	YEATS2	HP:0011462	Young adult onset
55690	PACS1	HP:0001176	Large hands
55690	PACS1	HP:0001195	Single umbilical artery
55690	PACS1	HP:0025160	Abnormal temper tantrums
55690	PACS1	HP:0001290	Generalized hypotonia
55690	PACS1	HP:0001272	Cerebellar atrophy
55690	PACS1	HP:0001250	Seizure
55690	PACS1	HP:0002580	Volvulus
55690	PACS1	HP:0001249	Intellectual disability
55690	PACS1	HP:0001260	Dysarthria
55690	PACS1	HP:0001263	Global developmental delay
55690	PACS1	HP:0001238	Slender finger
55690	PACS1	HP:0002553	Highly arched eyebrow
55690	PACS1	HP:0000023	Inguinal hernia
55690	PACS1	HP:0000028	Cryptorchidism
55690	PACS1	HP:0001344	Absent speech
55690	PACS1	HP:0000006	Autosomal dominant inheritance
55690	PACS1	HP:0002650	Scoliosis
55690	PACS1	HP:0001321	Cerebellar hypoplasia
55690	PACS1	HP:0001488	Bilateral ptosis
55690	PACS1	HP:0000154	Wide mouth
55690	PACS1	HP:0008947	Infantile muscular hypotonia
55690	PACS1	HP:0002714	Downturned corners of mouth
55690	PACS1	HP:0002020	Gastroesophageal reflux
55690	PACS1	HP:0002019	Constipation
55690	PACS1	HP:0040288	Nasogastric tube feeding
55690	PACS1	HP:0011968	Feeding difficulties
55690	PACS1	HP:0002389	Cavum septum pellucidum
55690	PACS1	HP:0002317	Unsteady gait
55690	PACS1	HP:0010821	Focal emotional seizure with laughing
55690	PACS1	HP:0004209	Clinodactyly of the 5th finger
55690	PACS1	HP:0000639	Nystagmus
55690	PACS1	HP:0000699	Diastema
55690	PACS1	HP:0011304	Broad thumb
55690	PACS1	HP:0001999	Abnormal facial shape
55690	PACS1	HP:0000664	Synophrys
55690	PACS1	HP:0000767	Pectus excavatum
55690	PACS1	HP:0000750	Delayed speech and language development
55690	PACS1	HP:0000718	Aggressive behavior
55690	PACS1	HP:0000729	Autistic behavior
55690	PACS1	HP:0000954	Single transverse palmar crease
55690	PACS1	HP:0000294	Low anterior hairline
55690	PACS1	HP:0000252	Microcephaly
55690	PACS1	HP:0012210	Abnormal renal morphology
55690	PACS1	HP:0000219	Thin upper lip vermilion
55690	PACS1	HP:0001537	Umbilical hernia
55690	PACS1	HP:0001508	Failure to thrive
55690	PACS1	HP:0011098	Speech apraxia
55690	PACS1	HP:0000369	Low-set ears
55690	PACS1	HP:0001671	Abnormal cardiac septum morphology
55690	PACS1	HP:0000319	Smooth philtrum
55690	PACS1	HP:0001647	Bicuspid aortic valve
55690	PACS1	HP:0000316	Hypertelorism
55690	PACS1	HP:0001643	Patent ductus arteriosus
55690	PACS1	HP:0001655	Patent foramen ovale
55690	PACS1	HP:0001629	Ventricular septal defect
55690	PACS1	HP:0002951	Partial absence of cerebellar vermis
55690	PACS1	HP:0001631	Atrial septal defect
55690	PACS1	HP:0006610	Wide intermamillary distance
55690	PACS1	HP:0000400	Macrotia
55690	PACS1	HP:0000486	Strabismus
55690	PACS1	HP:0000494	Downslanted palpebral fissures
55690	PACS1	HP:0012443	Abnormality of brain morphology
55690	PACS1	HP:0001763	Pes planus
55690	PACS1	HP:0000414	Bulbous nose
55690	PACS1	HP:0000411	Protruding ear
55690	PACS1	HP:0005421	Decreased circulating complement C3 concentration
55690	PACS1	HP:0000527	Long eyelashes
55690	PACS1	HP:0000508	Ptosis
55690	PACS1	HP:0001833	Long foot
55690	PACS1	HP:0000589	Coloboma
55690	PACS1	HP:0012523	Oral aversion
55690	PACS1	HP:0000545	Myopia
55691	FRMD4A	HP:0002465	Poor speech
55691	FRMD4A	HP:0002470	Nonprogressive cerebellar ataxia
55691	FRMD4A	HP:0010864	Intellectual disability, severe
55691	FRMD4A	HP:0001276	Hypertonia
55691	FRMD4A	HP:0001274	Agenesis of corpus callosum
55691	FRMD4A	HP:0001251	Ataxia
55691	FRMD4A	HP:0001249	Intellectual disability
55691	FRMD4A	HP:0001263	Global developmental delay
55691	FRMD4A	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
55691	FRMD4A	HP:0002553	Highly arched eyebrow
55691	FRMD4A	HP:0002509	Limb hypertonia
55691	FRMD4A	HP:0001344	Absent speech
55691	FRMD4A	HP:0001338	Partial agenesis of the corpus callosum
55691	FRMD4A	HP:0000007	Autosomal recessive inheritance
55691	FRMD4A	HP:0001320	Cerebellar vermis hypoplasia
55691	FRMD4A	HP:0001321	Cerebellar hypoplasia
55691	FRMD4A	HP:0000179	Thick lower lip vermilion
55691	FRMD4A	HP:0100540	Palpebral edema
55691	FRMD4A	HP:0001007	Hirsutism
55691	FRMD4A	HP:0012724	Upper eyelid edema
55691	FRMD4A	HP:0011451	Primary microcephaly
55691	FRMD4A	HP:0008070	Sparse hair
55691	FRMD4A	HP:0000294	Low anterior hairline
55691	FRMD4A	HP:0000252	Microcephaly
55691	FRMD4A	HP:0000232	Everted lower lip vermilion
55691	FRMD4A	HP:0001510	Growth delay
55691	FRMD4A	HP:0000358	Posteriorly rotated ears
55691	FRMD4A	HP:0000369	Low-set ears
55691	FRMD4A	HP:0000368	Low-set, posteriorly rotated ears
55691	FRMD4A	HP:0000341	Narrow forehead
55691	FRMD4A	HP:0000486	Strabismus
55691	FRMD4A	HP:0000463	Anteverted nares
55691	FRMD4A	HP:0000411	Protruding ear
55691	FRMD4A	HP:0000527	Long eyelashes
55691	FRMD4A	HP:0000574	Thick eyebrow
55697	VAC14	HP:0001182	Tapered finger
55697	VAC14	HP:0001167	Abnormal finger morphology
55697	VAC14	HP:0001159	Syndactyly
55697	VAC14	HP:0003781	Excessive salivation
55697	VAC14	HP:0010880	Increased nuchal translucency
55697	VAC14	HP:0009881	Aplasia of the distal phalanges of the hand
55697	VAC14	HP:0100817	Renovascular hypertension
55697	VAC14	HP:0001276	Hypertonia
55697	VAC14	HP:0001274	Agenesis of corpus callosum
55697	VAC14	HP:0001252	Hypotonia
55697	VAC14	HP:0001263	Global developmental delay
55697	VAC14	HP:0007333	Hypoplasia of the frontal lobes
55697	VAC14	HP:0008665	Clitoral hypertrophy
55697	VAC14	HP:0002529	Neuronal loss in central nervous system
55697	VAC14	HP:0002505	Loss of ambulation
55697	VAC14	HP:0000059	Hypoplastic labia majora
55697	VAC14	HP:0000054	Micropenis
55697	VAC14	HP:0000047	Hypospadias
55697	VAC14	HP:0001347	Hyperreflexia
55697	VAC14	HP:0002696	Abnormal parietal bone morphology
55697	VAC14	HP:0000028	Cryptorchidism
55697	VAC14	HP:0008897	Postnatal growth retardation
55697	VAC14	HP:0001332	Dystonia
55697	VAC14	HP:0000007	Autosomal recessive inheritance
55697	VAC14	HP:0001302	Pachygyria
55697	VAC14	HP:0001321	Cerebellar hypoplasia
55697	VAC14	HP:0000188	Short upper lip
55697	VAC14	HP:0012179	Craniofacial dystonia
55697	VAC14	HP:0000162	Glossoptosis
55697	VAC14	HP:0006323	Premature loss of primary teeth
55697	VAC14	HP:0007633	Bilateral microphthalmos
55697	VAC14	HP:0008935	Generalized neonatal hypotonia
55697	VAC14	HP:0002705	High, narrow palate
55697	VAC14	HP:0002021	Pyloric stenosis
55697	VAC14	HP:0005989	Redundant neck skin
55697	VAC14	HP:0002015	Dysphagia
55697	VAC14	HP:0002092	Pulmonary arterial hypertension
55697	VAC14	HP:0003376	Steppage gait
55697	VAC14	HP:0002139	Arrhinencephaly
55697	VAC14	HP:0010537	Wide cranial sutures
55697	VAC14	HP:0002209	Sparse scalp hair
55697	VAC14	HP:0008386	Aplasia/Hypoplasia of the nails
55697	VAC14	HP:0002376	Developmental regression
55697	VAC14	HP:0003676	Progressive
55697	VAC14	HP:0002317	Unsteady gait
55697	VAC14	HP:0004993	Slender long bones with narrow diaphyses
55697	VAC14	HP:0009777	Absent thumb
55697	VAC14	HP:0002307	Drooling
55697	VAC14	HP:0010067	Aplasia/hypoplasia of the 1st metatarsal
55697	VAC14	HP:0000647	Sclerocornea
55697	VAC14	HP:0001920	Renal artery stenosis
55697	VAC14	HP:0010035	Aplasia of the 1st metacarpal
55697	VAC14	HP:0000653	Sparse eyelashes
55697	VAC14	HP:0004322	Short stature
55697	VAC14	HP:0004331	Decreased skull ossification
55697	VAC14	HP:0003015	Flared metaphysis
55697	VAC14	HP:0000750	Delayed speech and language development
55697	VAC14	HP:0011463	Childhood onset
55697	VAC14	HP:0011448	Ankle clonus
55697	VAC14	HP:0011451	Primary microcephaly
55697	VAC14	HP:0010102	Aplasia of the distal phalanx of the hallux
55697	VAC14	HP:0010107	Short proximal phalanx of hallux
55697	VAC14	HP:0000773	Short ribs
55697	VAC14	HP:0005793	Shortening of all distal phalanges of the toes
55697	VAC14	HP:0012809	Narrow nasal base
55697	VAC14	HP:0000822	Hypertension
55697	VAC14	HP:0003236	Elevated circulating creatine kinase concentration
55697	VAC14	HP:0030816	Gingival recession
55697	VAC14	HP:0045075	Sparse eyebrow
55697	VAC14	HP:0000954	Single transverse palmar crease
55697	VAC14	HP:0005819	Short middle phalanx of finger
55697	VAC14	HP:0040163	Abnormal pelvis bone morphology
55697	VAC14	HP:0009381	Short finger
55697	VAC14	HP:0012294	Abnormal occipital bone morphology
55697	VAC14	HP:0000268	Dolichocephaly
55697	VAC14	HP:0002827	Hip dislocation
55697	VAC14	HP:0000238	Hydrocephalus
55697	VAC14	HP:0000216	Broad secondary alveolar ridge
55697	VAC14	HP:0001561	Polyhydramnios
55697	VAC14	HP:0000233	Thin vermilion border
55697	VAC14	HP:0001525	Severe failure to thrive
55697	VAC14	HP:0011061	Abnormality of dental structure
55697	VAC14	HP:0000377	Abnormal pinna morphology
55697	VAC14	HP:0002938	Lumbar hyperlordosis
55697	VAC14	HP:0000365	Hearing impairment
55697	VAC14	HP:0000369	Low-set ears
55697	VAC14	HP:0000348	High forehead
55697	VAC14	HP:0000347	Micrognathia
55697	VAC14	HP:0000316	Hypertelorism
55697	VAC14	HP:0000331	Short chin
55697	VAC14	HP:0000322	Short philtrum
55697	VAC14	HP:0001629	Ventricular septal defect
55697	VAC14	HP:0001640	Cardiomegaly
55697	VAC14	HP:0001636	Tetralogy of Fallot
55697	VAC14	HP:0001638	Cardiomyopathy
55697	VAC14	HP:0001631	Atrial septal defect
55697	VAC14	HP:0006628	Absent sternal ossification
55697	VAC14	HP:0000463	Anteverted nares
55697	VAC14	HP:0001789	Hydrops fetalis
55697	VAC14	HP:0006713	Aplasia/Hypoplasia of the scapulae
55697	VAC14	HP:0006709	Aplasia/Hypoplasia of the nipples
55697	VAC14	HP:0006710	Aplasia/Hypoplasia of the clavicles
55697	VAC14	HP:0000518	Cataract
55697	VAC14	HP:0001840	Metatarsus adductus
55697	VAC14	HP:0000520	Proptosis
55697	VAC14	HP:0001838	Rocker bottom foot
55697	VAC14	HP:0001831	Short toe
55697	VAC14	HP:0000582	Upslanted palpebral fissure
55697	VAC14	HP:0000568	Microphthalmia
55699	IARS2	HP:0001182	Tapered finger
55699	IARS2	HP:0001156	Brachydactyly
55699	IARS2	HP:0008619	Bilateral sensorineural hearing impairment
55699	IARS2	HP:0001270	Motor delay
55699	IARS2	HP:0001252	Hypotonia
55699	IARS2	HP:0001265	Hyporeflexia
55699	IARS2	HP:0001263	Global developmental delay
55699	IARS2	HP:0002571	Achalasia
55699	IARS2	HP:0100876	Infra-orbital crease
55699	IARS2	HP:0002521	Hypsarrhythmia
55699	IARS2	HP:0001374	Congenital hip dislocation
55699	IARS2	HP:0001371	Flexion contracture
55699	IARS2	HP:0001382	Joint hypermobility
55699	IARS2	HP:0002677	Small foramen magnum
55699	IARS2	HP:0008826	Dislocation of the femoral head
55699	IARS2	HP:0007470	Periarticular subcutaneous nodules
55699	IARS2	HP:0002663	Delayed epiphyseal ossification
55699	IARS2	HP:0002655	Spondyloepiphyseal dysplasia
55699	IARS2	HP:0000007	Autosomal recessive inheritance
55699	IARS2	HP:0002652	Skeletal dysplasia
55699	IARS2	HP:0002650	Scoliosis
55699	IARS2	HP:0002651	Spondyloepimetaphyseal dysplasia
55699	IARS2	HP:0000160	Narrow mouth
55699	IARS2	HP:0003311	Hypoplasia of the odontoid process
55699	IARS2	HP:0003307	Hyperlordosis
55699	IARS2	HP:0011800	Midface retrusion
55699	IARS2	HP:0011734	Central adrenal insufficiency
55699	IARS2	HP:0100585	Telangiectasia of the skin
55699	IARS2	HP:0002120	Cerebral cortical atrophy
55699	IARS2	HP:0003417	Coronal cleft vertebrae
55699	IARS2	HP:0003416	Spinal canal stenosis
55699	IARS2	HP:0003593	Infantile onset
55699	IARS2	HP:0003577	Congenital onset
55699	IARS2	HP:0007021	Pain insensitivity
55699	IARS2	HP:0001029	Poikiloderma
55699	IARS2	HP:0009830	Peripheral neuropathy
55699	IARS2	HP:0001097	Keratoconjunctivitis sicca
55699	IARS2	HP:0007141	Sensorimotor neuropathy
55699	IARS2	HP:0008445	Cervical spinal canal stenosis
55699	IARS2	HP:0000639	Nystagmus
55699	IARS2	HP:0001943	Hypoglycemia
55699	IARS2	HP:0000666	Horizontal nystagmus
55699	IARS2	HP:0004322	Short stature
55699	IARS2	HP:0005659	Thoracic kyphoscoliosis
55699	IARS2	HP:0003015	Flared metaphysis
55699	IARS2	HP:0003026	Short long bone
55699	IARS2	HP:0003025	Metaphyseal irregularity
55699	IARS2	HP:0000763	Sensory neuropathy
55699	IARS2	HP:0004425	Flat forehead
55699	IARS2	HP:0003196	Short nose
55699	IARS2	HP:0003162	Fasting hypoglycemia
55699	IARS2	HP:0000824	Decreased response to growth hormone stimulation test
55699	IARS2	HP:0010306	Short thorax
55699	IARS2	HP:0000938	Osteopenia
55699	IARS2	HP:0002827	Hip dislocation
55699	IARS2	HP:0000238	Hydrocephalus
55699	IARS2	HP:0000233	Thin vermilion border
55699	IARS2	HP:0002857	Genu valgum
55699	IARS2	HP:0001510	Growth delay
55699	IARS2	HP:0000399	Prelingual sensorineural hearing impairment
55699	IARS2	HP:0002936	Distal sensory impairment
55699	IARS2	HP:0000343	Long philtrum
55699	IARS2	HP:0000347	Micrognathia
55699	IARS2	HP:0001623	Breech presentation
55699	IARS2	HP:0000303	Mandibular prognathia
55699	IARS2	HP:0000408	Progressive sensorineural hearing impairment
55699	IARS2	HP:0000407	Sensorineural hearing impairment
55699	IARS2	HP:0005280	Depressed nasal bridge
55699	IARS2	HP:0000486	Strabismus
55699	IARS2	HP:0000490	Deeply set eye
55699	IARS2	HP:0001763	Pes planus
55699	IARS2	HP:0000430	Underdeveloped nasal alae
55699	IARS2	HP:0000518	Cataract
55699	IARS2	HP:0000519	Developmental cataract
55699	IARS2	HP:0000508	Ptosis
55699	IARS2	HP:0011220	Prominent forehead
55699	IARS2	HP:0000574	Thick eyebrow
55699	IARS2	HP:0000565	Esotropia
55699	IARS2	HP:0000540	Hypermetropia
55703	POLR3B	HP:0001151	Impaired horizontal smooth pursuit
55703	POLR3B	HP:0007256	Abnormal pyramidal sign
55703	POLR3B	HP:0002415	Leukodystrophy
55703	POLR3B	HP:0001272	Cerebellar atrophy
55703	POLR3B	HP:0001256	Intellectual disability, mild
55703	POLR3B	HP:0001250	Seizure
55703	POLR3B	HP:0001251	Ataxia
55703	POLR3B	HP:0001249	Intellectual disability
55703	POLR3B	HP:0001265	Hyporeflexia
55703	POLR3B	HP:0001260	Dysarthria
55703	POLR3B	HP:0001263	Global developmental delay
55703	POLR3B	HP:0001257	Spasticity
55703	POLR3B	HP:0031058	Impairment of activities of daily living
55703	POLR3B	HP:0002505	Loss of ambulation
55703	POLR3B	HP:0000044	Hypogonadotropic hypogonadism
55703	POLR3B	HP:0001347	Hyperreflexia
55703	POLR3B	HP:0001332	Dystonia
55703	POLR3B	HP:0033725	Thin corpus callosum
55703	POLR3B	HP:0000007	Autosomal recessive inheritance
55703	POLR3B	HP:0001337	Tremor
55703	POLR3B	HP:0000006	Autosomal dominant inheritance
55703	POLR3B	HP:0001310	Dysmetria
55703	POLR3B	HP:0002015	Dysphagia
55703	POLR3B	HP:0002080	Intention tremor
55703	POLR3B	HP:0002066	Gait ataxia
55703	POLR3B	HP:0002064	Spastic gait
55703	POLR3B	HP:0002079	Hypoplasia of the corpus callosum
55703	POLR3B	HP:0002075	Dysdiadochokinesis
55703	POLR3B	HP:0003487	Babinski sign
55703	POLR3B	HP:0002120	Cerebral cortical atrophy
55703	POLR3B	HP:0003429	CNS hypomyelination
55703	POLR3B	HP:0002188	Delayed CNS myelination
55703	POLR3B	HP:0002174	Postural tremor
55703	POLR3B	HP:0003593	Infantile onset
55703	POLR3B	HP:0003577	Congenital onset
55703	POLR3B	HP:0007099	Chiari type I malformation
55703	POLR3B	HP:0002359	Frequent falls
55703	POLR3B	HP:0002376	Developmental regression
55703	POLR3B	HP:0003676	Progressive
55703	POLR3B	HP:0002342	Intellectual disability, moderate
55703	POLR3B	HP:0009830	Peripheral neuropathy
55703	POLR3B	HP:0100613	Death in early adulthood
55703	POLR3B	HP:0007108	Demyelinating peripheral neuropathy
55703	POLR3B	HP:0002307	Drooling
55703	POLR3B	HP:0003621	Juvenile onset
55703	POLR3B	HP:0006858	Impaired distal proprioception
55703	POLR3B	HP:0006855	Cerebellar vermis atrophy
55703	POLR3B	HP:0006808	Cerebral hypomyelination
55703	POLR3B	HP:0006886	Impaired distal vibration sensation
55703	POLR3B	HP:0000640	Gaze-evoked nystagmus
55703	POLR3B	HP:0000648	Optic atrophy
55703	POLR3B	HP:0000617	Abnormality of ocular smooth pursuit
55703	POLR3B	HP:0000684	Delayed eruption of teeth
55703	POLR3B	HP:0000677	Oligodontia
55703	POLR3B	HP:0000695	Natal tooth
55703	POLR3B	HP:0000668	Hypodontia
55703	POLR3B	HP:0000666	Horizontal nystagmus
55703	POLR3B	HP:0004322	Short stature
55703	POLR3B	HP:0031936	Delayed ability to walk
55703	POLR3B	HP:0000750	Delayed speech and language development
55703	POLR3B	HP:0011463	Childhood onset
55703	POLR3B	HP:0000815	Hypergonadotropic hypogonadism
55703	POLR3B	HP:0000823	Delayed puberty
55703	POLR3B	HP:0002827	Hip dislocation
55703	POLR3B	HP:0000252	Microcephaly
55703	POLR3B	HP:0001510	Growth delay
55703	POLR3B	HP:0011003	High myopia
55703	POLR3B	HP:0000511	Vertical supranuclear gaze palsy
55703	POLR3B	HP:0000545	Myopia
55704	CCDC88A	HP:0001182	Tapered finger
55704	CCDC88A	HP:0001272	Cerebellar atrophy
55704	CCDC88A	HP:0001252	Hypotonia
55704	CCDC88A	HP:0002521	Hypsarrhythmia
55704	CCDC88A	HP:0001347	Hyperreflexia
55704	CCDC88A	HP:0001344	Absent speech
55704	CCDC88A	HP:0001339	Lissencephaly
55704	CCDC88A	HP:0000007	Autosomal recessive inheritance
55704	CCDC88A	HP:0001336	Myoclonus
55704	CCDC88A	HP:0001302	Pachygyria
55704	CCDC88A	HP:0001319	Neonatal hypotonia
55704	CCDC88A	HP:0000194	Open mouth
55704	CCDC88A	HP:0025405	Visual fixation instability
55704	CCDC88A	HP:0002069	Bilateral tonic-clonic seizure
55704	CCDC88A	HP:0002079	Hypoplasia of the corpus callosum
55704	CCDC88A	HP:0002119	Ventriculomegaly
55704	CCDC88A	HP:0002133	Status epilepticus
55704	CCDC88A	HP:0002126	Polymicrogyria
55704	CCDC88A	HP:0002187	Intellectual disability, profound
55704	CCDC88A	HP:0003577	Congenital onset
55704	CCDC88A	HP:0011968	Feeding difficulties
55704	CCDC88A	HP:0007105	Infantile encephalopathy
55704	CCDC88A	HP:0000648	Optic atrophy
55704	CCDC88A	HP:0012736	Profound global developmental delay
55704	CCDC88A	HP:0003196	Short nose
55704	CCDC88A	HP:0000969	Edema
55704	CCDC88A	HP:0000286	Epicanthus
55704	CCDC88A	HP:0000278	Retrognathia
55704	CCDC88A	HP:0000293	Full cheeks
55704	CCDC88A	HP:0000253	Progressive microcephaly
55704	CCDC88A	HP:0000341	Narrow forehead
55704	CCDC88A	HP:0000340	Sloping forehead
55714	TENM3	HP:0001116	Macular coloboma
55714	TENM3	HP:0001249	Intellectual disability
55714	TENM3	HP:0001263	Global developmental delay
55714	TENM3	HP:0012043	Pendular nystagmus
55714	TENM3	HP:0000007	Autosomal recessive inheritance
55714	TENM3	HP:0007663	Reduced visual acuity
55714	TENM3	HP:0003577	Congenital onset
55714	TENM3	HP:0000647	Sclerocornea
55714	TENM3	HP:0000612	Iris coloboma
55714	TENM3	HP:0000750	Delayed speech and language development
55714	TENM3	HP:0045025	Narrow palpebral fissure
55714	TENM3	HP:0007700	Ocular anterior segment dysgenesis
55714	TENM3	HP:0000369	Low-set ears
55714	TENM3	HP:0000343	Long philtrum
55714	TENM3	HP:0000316	Hypertelorism
55714	TENM3	HP:0000400	Macrotia
55714	TENM3	HP:0000482	Microcornea
55714	TENM3	HP:0000508	Ptosis
55714	TENM3	HP:0000505	Visual impairment
55714	TENM3	HP:0000568	Microphthalmia
55714	TENM3	HP:0000565	Esotropia
55714	TENM3	HP:0000541	Retinal detachment
55717	WDR11	HP:0003782	Eunuchoid habitus
55717	WDR11	HP:0001288	Gait disturbance
55717	WDR11	HP:0001250	Seizure
55717	WDR11	HP:0001252	Hypotonia
55717	WDR11	HP:0001251	Ataxia
55717	WDR11	HP:0001249	Intellectual disability
55717	WDR11	HP:0001260	Dysarthria
55717	WDR11	HP:0001263	Global developmental delay
55717	WDR11	HP:0100842	Septo-optic dysplasia
55717	WDR11	HP:0008734	Decreased testicular size
55717	WDR11	HP:0008736	Hypoplasia of penis
55717	WDR11	HP:0008724	Hypoplasia of the ovary
55717	WDR11	HP:0000044	Hypogonadotropic hypogonadism
55717	WDR11	HP:0000054	Micropenis
55717	WDR11	HP:0000026	Male hypogonadism
55717	WDR11	HP:0000028	Cryptorchidism
55717	WDR11	HP:0000027	Azoospermia
55717	WDR11	HP:0000002	Abnormality of body height
55717	WDR11	HP:0001324	Muscle weakness
55717	WDR11	HP:0000013	Hypoplasia of the uterus
55717	WDR11	HP:0000008	Abnormal morphology of female internal genitalia
55717	WDR11	HP:0000007	Autosomal recessive inheritance
55717	WDR11	HP:0001335	Bimanual synkinesia
55717	WDR11	HP:0001337	Tremor
55717	WDR11	HP:0000006	Autosomal dominant inheritance
55717	WDR11	HP:0002652	Skeletal dysplasia
55717	WDR11	HP:0000164	Abnormality of the dentition
55717	WDR11	HP:0000175	Cleft palate
55717	WDR11	HP:0000144	Decreased fertility
55717	WDR11	HP:0000118	Phenotypic abnormality
55717	WDR11	HP:0000134	Female hypogonadism
55717	WDR11	HP:0002761	Generalized joint laxity
55717	WDR11	HP:0002757	Recurrent fractures
55717	WDR11	HP:0000104	Renal agenesis
55717	WDR11	HP:0002750	Delayed skeletal maturation
55717	WDR11	HP:0011755	Ectopic posterior pituitary
55717	WDR11	HP:0008197	Absence of pubertal development
55717	WDR11	HP:0008187	Absence of secondary sex characteristics
55717	WDR11	HP:0010550	Paraplegia
55717	WDR11	HP:0002215	Sparse axillary hair
55717	WDR11	HP:0002231	Sparse body hair
55717	WDR11	HP:0002225	Sparse pubic hair
55717	WDR11	HP:0011961	Non-obstructive azoospermia
55717	WDR11	HP:0008527	Congenital sensorineural hearing impairment
55717	WDR11	HP:0009804	Tooth agenesis
55717	WDR11	HP:0100639	Erectile dysfunction
55717	WDR11	HP:0003621	Juvenile onset
55717	WDR11	HP:0000639	Nystagmus
55717	WDR11	HP:0001943	Hypoglycemia
55717	WDR11	HP:0004322	Short stature
55717	WDR11	HP:0030680	Abnormality of cardiovascular system morphology
55717	WDR11	HP:0000802	Impotence
55717	WDR11	HP:0004349	Reduced bone mineral density
55717	WDR11	HP:0000771	Gynecomastia
55717	WDR11	HP:0000739	Anxiety
55717	WDR11	HP:0000716	Depression
55717	WDR11	HP:0000789	Infertility
55717	WDR11	HP:0000786	Primary amenorrhea
55717	WDR11	HP:0004409	Hyposmia
55717	WDR11	HP:0004408	Abnormality of the sense of smell
55717	WDR11	HP:0003187	Breast hypoplasia
55717	WDR11	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
55717	WDR11	HP:0000873	Diabetes insipidus
55717	WDR11	HP:0000869	Secondary amenorrhea
55717	WDR11	HP:0000864	Abnormality of the hypothalamus-pituitary axis
55717	WDR11	HP:0000835	Adrenal hypoplasia
55717	WDR11	HP:0000830	Anterior hypopituitarism
55717	WDR11	HP:0000821	Hypothyroidism
55717	WDR11	HP:0000823	Delayed puberty
55717	WDR11	HP:0000939	Osteoporosis
55717	WDR11	HP:0000938	Osteopenia
55717	WDR11	HP:0040171	Decreased serum testosterone concentration
55717	WDR11	HP:0008064	Ichthyosis
55717	WDR11	HP:0030016	Dyspareunia
55717	WDR11	HP:0030019	Increased female libido
55717	WDR11	HP:0001522	Death in infancy
55717	WDR11	HP:0001508	Failure to thrive
55717	WDR11	HP:0001513	Obesity
55717	WDR11	HP:0012385	Camptodactyly
55717	WDR11	HP:0001608	Abnormality of the voice
55717	WDR11	HP:0000316	Hypertelorism
55717	WDR11	HP:0006610	Wide intermamillary distance
55717	WDR11	HP:0000407	Sensorineural hearing impairment
55717	WDR11	HP:0005280	Depressed nasal bridge
55717	WDR11	HP:0000458	Anosmia
55717	WDR11	HP:0001763	Pes planus
55717	WDR11	HP:0001761	Pes cavus
55717	WDR11	HP:0000508	Ptosis
55717	WDR11	HP:0000505	Visual impairment
55717	WDR11	HP:0000551	Color vision defect
55733	HHAT	HP:0001156	Brachydactyly
55733	HHAT	HP:0001252	Hypotonia
55733	HHAT	HP:0001249	Intellectual disability
55733	HHAT	HP:0001260	Dysarthria
55733	HHAT	HP:0007359	Focal-onset seizure
55733	HHAT	HP:0000037	Male pseudohermaphroditism
55733	HHAT	HP:0033725	Thin corpus callosum
55733	HHAT	HP:0000007	Autosomal recessive inheritance
55733	HHAT	HP:0001320	Cerebellar vermis hypoplasia
55733	HHAT	HP:0002644	Abnormal pelvic girdle bone morphology
55733	HHAT	HP:0007676	Hypoplasia of the iris
55733	HHAT	HP:0002069	Bilateral tonic-clonic seizure
55733	HHAT	HP:0003394	Muscle spasm
55733	HHAT	HP:0002164	Nail dysplasia
55733	HHAT	HP:0003510	Severe short stature
55733	HHAT	HP:0009803	Short phalanx of finger
55733	HHAT	HP:0006872	Cerebral hypoplasia
55733	HHAT	HP:0000616	Miosis
55733	HHAT	HP:0010049	Short metacarpal
55733	HHAT	HP:0004330	Increased skull ossification
55733	HHAT	HP:0005622	Broad long bones
55733	HHAT	HP:0005621	Trapezoidal vertebral body
55733	HHAT	HP:0003043	Abnormal shoulder morphology
55733	HHAT	HP:0000774	Narrow chest
55733	HHAT	HP:0003236	Elevated circulating creatine kinase concentration
55733	HHAT	HP:0001591	Bell-shaped thorax
55733	HHAT	HP:0000252	Microcephaly
55733	HHAT	HP:0001511	Intrauterine growth retardation
55733	HHAT	HP:0025681	Distal clavicular thinning
55733	HHAT	HP:0002983	Micromelia
55733	HHAT	HP:0000400	Macrotia
55733	HHAT	HP:0000486	Strabismus
55733	HHAT	HP:0000490	Deeply set eye
55733	HHAT	HP:0000506	Telecanthus
55733	HHAT	HP:0000582	Upslanted palpebral fissure
55733	HHAT	HP:0000581	Blepharophimosis
55733	HHAT	HP:0000588	Optic disc coloboma
55733	HHAT	HP:0000567	Chorioretinal coloboma
55737	VPS35	HP:0001268	Mental deterioration
55737	VPS35	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
55737	VPS35	HP:0001332	Dystonia
55737	VPS35	HP:0001337	Tremor
55737	VPS35	HP:0000006	Autosomal dominant inheritance
55737	VPS35	HP:0001300	Parkinsonism
55737	VPS35	HP:0002015	Dysphagia
55737	VPS35	HP:0002067	Bradykinesia
55737	VPS35	HP:0003394	Muscle spasm
55737	VPS35	HP:0002063	Rigidity
55737	VPS35	HP:0002120	Cerebral cortical atrophy
55737	VPS35	HP:0002171	Gliosis
55737	VPS35	HP:0002172	Postural instability
55737	VPS35	HP:0100710	Impulsivity
55737	VPS35	HP:0100753	Schizophrenia
55737	VPS35	HP:0002367	Visual hallucinations
55737	VPS35	HP:0002362	Shuffling gait
55737	VPS35	HP:0002360	Sleep disturbance
55737	VPS35	HP:0002359	Frequent falls
55737	VPS35	HP:0002322	Resting tremor
55737	VPS35	HP:0100660	Dyskinesia
55737	VPS35	HP:0002304	Akinesia
55737	VPS35	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
55737	VPS35	HP:0000651	Diplopia
55737	VPS35	HP:0000744	Low frustration tolerance
55737	VPS35	HP:0000741	Apathy
55737	VPS35	HP:0000716	Depression
55737	VPS35	HP:0000713	Agitation
55737	VPS35	HP:0000726	Dementia
55737	VPS35	HP:0004409	Hyposmia
55737	VPS35	HP:0100315	Lewy bodies
55737	VPS35	HP:0031435	Monotonic speech
55737	VPS35	HP:0000338	Hypomimic face
55737	VPS35	HP:0005340	Spastic/hyperactive bladder
55737	VPS35	HP:0012450	Chronic constipation
55737	VPS35	HP:0001824	Weight loss
55739	NAXD	HP:0007325	Generalized dystonia
55739	NAXD	HP:0008619	Bilateral sensorineural hearing impairment
55739	NAXD	HP:0001298	Encephalopathy
55739	NAXD	HP:0001254	Lethargy
55739	NAXD	HP:0001250	Seizure
55739	NAXD	HP:0001251	Ataxia
55739	NAXD	HP:0001263	Global developmental delay
55739	NAXD	HP:0002572	Episodic vomiting
55739	NAXD	HP:0002521	Hypsarrhythmia
55739	NAXD	HP:0002510	Spastic tetraplegia
55739	NAXD	HP:0002500	Abnormal cerebral white matter morphology
55739	NAXD	HP:0003819	Death in childhood
55739	NAXD	HP:0001332	Dystonia
55739	NAXD	HP:0000007	Autosomal recessive inheritance
55739	NAXD	HP:0001336	Myoclonus
55739	NAXD	HP:0008936	Axial hypotonia
55739	NAXD	HP:0002014	Diarrhea
55739	NAXD	HP:0002013	Vomiting
55739	NAXD	HP:0002066	Gait ataxia
55739	NAXD	HP:0002072	Chorea
55739	NAXD	HP:0002059	Cerebral atrophy
55739	NAXD	HP:0002151	Increased serum lactate
55739	NAXD	HP:0002119	Ventriculomegaly
55739	NAXD	HP:0002180	Neurodegeneration
55739	NAXD	HP:0002181	Cerebral edema
55739	NAXD	HP:0002171	Gliosis
55739	NAXD	HP:0003593	Infantile onset
55739	NAXD	HP:0002376	Developmental regression
55739	NAXD	HP:0002371	Loss of speech
55739	NAXD	HP:0010783	Erythema
55739	NAXD	HP:0002307	Drooling
55739	NAXD	HP:0001954	Recurrent fever
55739	NAXD	HP:0000602	Ophthalmoplegia
55739	NAXD	HP:0000737	Irritability
55739	NAXD	HP:0000750	Delayed speech and language development
55739	NAXD	HP:0000718	Aggressive behavior
55739	NAXD	HP:0011463	Childhood onset
55739	NAXD	HP:0000988	Skin rash
55739	NAXD	HP:0008066	Abnormal blistering of the skin
55739	NAXD	HP:0001649	Tachycardia
55739	NAXD	HP:0001644	Dilated cardiomyopathy
55739	NAXD	HP:0001712	Left ventricular hypertrophy
55739	NAXD	HP:0012469	Infantile spasms
55739	NAXD	HP:0000518	Cataract
55739	NAXD	HP:0001876	Pancytopenia
55746	NUP133	HP:0001181	Adducted thumb
55746	NUP133	HP:0003774	Stage 5 chronic kidney disease
55746	NUP133	HP:0002410	Aqueductal stenosis
55746	NUP133	HP:0001276	Hypertonia
55746	NUP133	HP:0002586	Peritonitis
55746	NUP133	HP:0001250	Seizure
55746	NUP133	HP:0001252	Hypotonia
55746	NUP133	HP:0001263	Global developmental delay
55746	NUP133	HP:0010978	Abnormality of immune system physiology
55746	NUP133	HP:0000097	Focal segmental glomerulosclerosis
55746	NUP133	HP:0000093	Proteinuria
55746	NUP133	HP:0000092	Renal tubular atrophy
55746	NUP133	HP:0000007	Autosomal recessive inheritance
55746	NUP133	HP:0001302	Pachygyria
55746	NUP133	HP:0001317	Abnormal cerebellum morphology
55746	NUP133	HP:0000164	Abnormality of the dentition
55746	NUP133	HP:0006297	Enamel hypoplasia
55746	NUP133	HP:0000100	Nephrotic syndrome
55746	NUP133	HP:0000112	Nephropathy
55746	NUP133	HP:0002036	Hiatus hernia
55746	NUP133	HP:0002027	Abdominal pain
55746	NUP133	HP:0100539	Periorbital edema
55746	NUP133	HP:0100543	Cognitive impairment
55746	NUP133	HP:0002120	Cerebral cortical atrophy
55746	NUP133	HP:0002188	Delayed CNS myelination
55746	NUP133	HP:0002187	Intellectual disability, profound
55746	NUP133	HP:0100490	Camptodactyly of finger
55746	NUP133	HP:0002269	Abnormality of neuronal migration
55746	NUP133	HP:0100720	Hypoplasia of the ear cartilage
55746	NUP133	HP:0032046	Focal cortical dysplasia
55746	NUP133	HP:0011947	Respiratory tract infection
55746	NUP133	HP:0003676	Progressive
55746	NUP133	HP:0002353	EEG abnormality
55746	NUP133	HP:0002315	Headache
55746	NUP133	HP:0003623	Neonatal onset
55746	NUP133	HP:0003621	Juvenile onset
55746	NUP133	HP:0012622	Chronic kidney disease
55746	NUP133	HP:0001967	Diffuse mesangial sclerosis
55746	NUP133	HP:0001945	Fever
55746	NUP133	HP:0000601	Hypotelorism
55746	NUP133	HP:0004322	Short stature
55746	NUP133	HP:0003073	Hypoalbuminemia
55746	NUP133	HP:0004374	Hemiplegia/hemiparesis
55746	NUP133	HP:0000737	Irritability
55746	NUP133	HP:0000707	Abnormality of the nervous system
55746	NUP133	HP:0011463	Childhood onset
55746	NUP133	HP:0000790	Hematuria
55746	NUP133	HP:0000969	Edema
55746	NUP133	HP:0005108	Abnormal intervertebral disk morphology
55746	NUP133	HP:0000252	Microcephaly
55746	NUP133	HP:0001511	Intrauterine growth retardation
55746	NUP133	HP:0031504	Foamy urine
55746	NUP133	HP:0000365	Hearing impairment
55746	NUP133	HP:0000341	Narrow forehead
55746	NUP133	HP:0000347	Micrognathia
55746	NUP133	HP:0000316	Hypertelorism
55746	NUP133	HP:0001622	Premature birth
55746	NUP133	HP:0000400	Macrotia
55746	NUP133	HP:0000486	Strabismus
55746	NUP133	HP:0012444	Brain atrophy
55746	NUP133	HP:0012588	Steroid-resistant nephrotic syndrome
55746	NUP133	HP:0012579	Minimal change glomerulonephritis
55750	AGK	HP:0001131	Corneal dystrophy
55750	AGK	HP:0003737	Mitochondrial myopathy
55750	AGK	HP:0001290	Generalized hypotonia
55750	AGK	HP:0001270	Motor delay
55750	AGK	HP:0001252	Hypotonia
55750	AGK	HP:0003828	Variable expressivity
55750	AGK	HP:0001324	Muscle weakness
55750	AGK	HP:0000007	Autosomal recessive inheritance
55750	AGK	HP:0002093	Respiratory insufficiency
55750	AGK	HP:0003388	Easy fatigability
55750	AGK	HP:0002151	Increased serum lactate
55750	AGK	HP:0003593	Infantile onset
55750	AGK	HP:0003577	Congenital onset
55750	AGK	HP:0003546	Exercise intolerance
55750	AGK	HP:0003535	3-Methylglutaconic aciduria
55750	AGK	HP:0004901	Exercise-induced lactic acidemia
55750	AGK	HP:0000639	Nystagmus
55750	AGK	HP:0003198	Myopathy
55750	AGK	HP:0003128	Lactic acidosis
55750	AGK	HP:0001510	Growth delay
55750	AGK	HP:0012378	Fatigue
55750	AGK	HP:0001639	Hypertrophic cardiomyopathy
55750	AGK	HP:0000486	Strabismus
55750	AGK	HP:0000518	Cataract
55750	AGK	HP:0000519	Developmental cataract
55750	AGK	HP:0000512	Abnormal electroretinogram
55750	AGK	HP:0000501	Glaucoma
55750	AGK	HP:0001873	Thrombocytopenia
55750	AGK	HP:0000545	Myopia
55753	OGDHL	HP:0001251	Ataxia
55753	OGDHL	HP:0001263	Global developmental delay
55753	OGDHL	HP:0001257	Spasticity
55753	OGDHL	HP:0002540	Inability to walk
55753	OGDHL	HP:0002521	Hypsarrhythmia
55753	OGDHL	HP:0001385	Hip dysplasia
55753	OGDHL	HP:0000007	Autosomal recessive inheritance
55753	OGDHL	HP:0002650	Scoliosis
55753	OGDHL	HP:0001488	Bilateral ptosis
55753	OGDHL	HP:0002069	Bilateral tonic-clonic seizure
55753	OGDHL	HP:0002079	Hypoplasia of the corpus callosum
55753	OGDHL	HP:0002059	Cerebral atrophy
55753	OGDHL	HP:0002119	Ventriculomegaly
55753	OGDHL	HP:0002133	Status epilepticus
55753	OGDHL	HP:0003593	Infantile onset
55753	OGDHL	HP:0003577	Congenital onset
55753	OGDHL	HP:0003621	Juvenile onset
55753	OGDHL	HP:0000639	Nystagmus
55753	OGDHL	HP:0000648	Optic atrophy
55753	OGDHL	HP:0011344	Severe global developmental delay
55753	OGDHL	HP:0006970	Periventricular leukomalacia
55753	OGDHL	HP:0030799	Scaphocephaly
55753	OGDHL	HP:0000252	Microcephaly
55753	OGDHL	HP:0000218	High palate
55753	OGDHL	HP:0001508	Failure to thrive
55753	OGDHL	HP:0000365	Hearing impairment
55753	OGDHL	HP:0000338	Hypomimic face
55753	OGDHL	HP:0011170	Generalized myoclonic-atonic seizure
55753	OGDHL	HP:0012469	Infantile spasms
55753	OGDHL	HP:0000494	Downslanted palpebral fissures
55753	OGDHL	HP:0001761	Pes cavus
55753	OGDHL	HP:0000505	Visual impairment
55755	CDK5RAP2	HP:0002472	Small cerebral cortex
55755	CDK5RAP2	HP:0010864	Intellectual disability, severe
55755	CDK5RAP2	HP:0009879	Simplified gyral pattern
55755	CDK5RAP2	HP:0001274	Agenesis of corpus callosum
55755	CDK5RAP2	HP:0001263	Global developmental delay
55755	CDK5RAP2	HP:0007333	Hypoplasia of the frontal lobes
55755	CDK5RAP2	HP:0000076	Vesicoureteral reflux
55755	CDK5RAP2	HP:0001347	Hyperreflexia
55755	CDK5RAP2	HP:0001338	Partial agenesis of the corpus callosum
55755	CDK5RAP2	HP:0000007	Autosomal recessive inheritance
55755	CDK5RAP2	HP:0001302	Pachygyria
55755	CDK5RAP2	HP:0000122	Unilateral renal agenesis
55755	CDK5RAP2	HP:0002119	Ventriculomegaly
55755	CDK5RAP2	HP:0003577	Congenital onset
55755	CDK5RAP2	HP:0002282	Gray matter heterotopia
55755	CDK5RAP2	HP:0002342	Intellectual disability, moderate
55755	CDK5RAP2	HP:0000687	Widely spaced teeth
55755	CDK5RAP2	HP:0004322	Short stature
55755	CDK5RAP2	HP:0011451	Primary microcephaly
55755	CDK5RAP2	HP:0003103	Abnormal cortical bone morphology
55755	CDK5RAP2	HP:0000252	Microcephaly
55755	CDK5RAP2	HP:0000219	Thin upper lip vermilion
55755	CDK5RAP2	HP:0001510	Growth delay
55755	CDK5RAP2	HP:0000340	Sloping forehead
55755	CDK5RAP2	HP:0000407	Sensorineural hearing impairment
55755	CDK5RAP2	HP:0000448	Prominent nose
55755	CDK5RAP2	HP:0000410	Mixed hearing impairment
55755	CDK5RAP2	HP:0000520	Proptosis
55755	CDK5RAP2	HP:0000582	Upslanted palpebral fissure
55764	IFT122	HP:0001156	Brachydactyly
55764	IFT122	HP:0003774	Stage 5 chronic kidney disease
55764	IFT122	HP:0009880	Broad distal phalanges of all fingers
55764	IFT122	HP:0009882	Short distal phalanx of finger
55764	IFT122	HP:0001249	Intellectual disability
55764	IFT122	HP:0001231	Abnormal fingernail morphology
55764	IFT122	HP:0006101	Finger syndactyly
55764	IFT122	HP:0001399	Hepatic failure
55764	IFT122	HP:0001395	Hepatic fibrosis
55764	IFT122	HP:0001388	Joint laxity
55764	IFT122	HP:0000023	Inguinal hernia
55764	IFT122	HP:0001363	Craniosynostosis
55764	IFT122	HP:0000007	Autosomal recessive inheritance
55764	IFT122	HP:0008905	Rhizomelia
55764	IFT122	HP:0000164	Abnormality of the dentition
55764	IFT122	HP:0032612	Triphalangeal hallux
55764	IFT122	HP:0002705	High, narrow palate
55764	IFT122	HP:0006297	Enamel hypoplasia
55764	IFT122	HP:0001407	Hepatic cysts
55764	IFT122	HP:0002007	Frontal bossing
55764	IFT122	HP:0009466	Radial deviation of finger
55764	IFT122	HP:0003577	Congenital onset
55764	IFT122	HP:0002240	Hepatomegaly
55764	IFT122	HP:0002217	Slow-growing hair
55764	IFT122	HP:0002213	Fine hair
55764	IFT122	HP:0002205	Recurrent respiratory infections
55764	IFT122	HP:0008388	Abnormal toenail morphology
55764	IFT122	HP:0008499	High hypermetropia
55764	IFT122	HP:0004209	Clinodactyly of the 5th finger
55764	IFT122	HP:0005567	Renal magnesium wasting
55764	IFT122	HP:0001970	Tubulointerstitial nephritis
55764	IFT122	HP:0012622	Chronic kidney disease
55764	IFT122	HP:0012623	Stage 1 chronic kidney disease
55764	IFT122	HP:0000639	Nystagmus
55764	IFT122	HP:0000601	Hypotelorism
55764	IFT122	HP:0000682	Abnormal dental enamel morphology
55764	IFT122	HP:0000679	Taurodontia
55764	IFT122	HP:0000674	Anodontia
55764	IFT122	HP:0000691	Microdontia
55764	IFT122	HP:0000687	Widely spaced teeth
55764	IFT122	HP:0000668	Hypodontia
55764	IFT122	HP:0003071	Flattened epiphysis
55764	IFT122	HP:0003038	Fibular hypoplasia
55764	IFT122	HP:0005692	Joint hyperflexibility
55764	IFT122	HP:0000767	Pectus excavatum
55764	IFT122	HP:0000774	Narrow chest
55764	IFT122	HP:0000773	Short ribs
55764	IFT122	HP:0004442	Sagittal craniosynostosis
55764	IFT122	HP:0030799	Scaphocephaly
55764	IFT122	HP:0005792	Short humerus
55764	IFT122	HP:0010306	Short thorax
55764	IFT122	HP:0000954	Single transverse palmar crease
55764	IFT122	HP:0000968	Ectodermal dysplasia
55764	IFT122	HP:0000939	Osteoporosis
55764	IFT122	HP:0000944	Abnormal metaphysis morphology
55764	IFT122	HP:0000940	Abnormal diaphysis morphology
55764	IFT122	HP:0008070	Sparse hair
55764	IFT122	HP:0000286	Epicanthus
55764	IFT122	HP:0000293	Full cheeks
55764	IFT122	HP:0000268	Dolichocephaly
55764	IFT122	HP:0000269	Prominent occiput
55764	IFT122	HP:0030084	Clinodactyly
55764	IFT122	HP:0000218	High palate
55764	IFT122	HP:0000232	Everted lower lip vermilion
55764	IFT122	HP:0001538	Protuberant abdomen
55764	IFT122	HP:0006563	Malformation of the hepatic ductal plate
55764	IFT122	HP:0002901	Hypocalcemia
55764	IFT122	HP:0000369	Low-set ears
55764	IFT122	HP:0000348	High forehead
55764	IFT122	HP:0001647	Bicuspid aortic valve
55764	IFT122	HP:0000463	Anteverted nares
55764	IFT122	HP:0001799	Short nail
55764	IFT122	HP:0000411	Protruding ear
55764	IFT122	HP:0000431	Wide nasal bridge
55764	IFT122	HP:0001837	Broad toe
55764	IFT122	HP:0000506	Telecanthus
55764	IFT122	HP:0001831	Short toe
55764	IFT122	HP:0001816	Thin nail
55764	IFT122	HP:0000556	Retinal dystrophy
55764	IFT122	HP:0000545	Myopia
55765	INAVA	HP:0003829	Typified by incomplete penetrance
55765	INAVA	HP:0000006	Autosomal dominant inheritance
55765	INAVA	HP:0100280	Crohn's disease
55765	INAVA	HP:0100279	Ulcerative colitis
55768	NGLY1	HP:0002487	Hyperkinetic movements
55768	NGLY1	HP:0002465	Poor speech
55768	NGLY1	HP:0003785	Decreased CSF homovanillic acid concentration
55768	NGLY1	HP:0009938	Sunken cheeks
55768	NGLY1	HP:0002421	Poor head control
55768	NGLY1	HP:0001272	Cerebellar atrophy
55768	NGLY1	HP:0001271	Polyneuropathy
55768	NGLY1	HP:0001250	Seizure
55768	NGLY1	HP:0001252	Hypotonia
55768	NGLY1	HP:0001249	Intellectual disability
55768	NGLY1	HP:0001265	Hyporeflexia
55768	NGLY1	HP:0001263	Global developmental delay
55768	NGLY1	HP:0100899	Sclerosis of finger phalanx
55768	NGLY1	HP:0031051	Tarsal sclerosis
55768	NGLY1	HP:0002540	Inability to walk
55768	NGLY1	HP:0003834	Shoulder dislocation
55768	NGLY1	HP:0031008	Lingual dystonia
55768	NGLY1	HP:0012070	Chondroitin sulfate excretion in urine
55768	NGLY1	HP:0012069	Keratan sulfate excretion in urine
55768	NGLY1	HP:0001395	Hepatic fibrosis
55768	NGLY1	HP:0001374	Congenital hip dislocation
55768	NGLY1	HP:0025336	Delayed ability to sit
55768	NGLY1	HP:0001385	Hip dysplasia
55768	NGLY1	HP:0001382	Joint hypermobility
55768	NGLY1	HP:0031146	Impaired oral bolus formation
55768	NGLY1	HP:0031162	Impaired oropharyngeal swallow response
55768	NGLY1	HP:0001332	Dystonia
55768	NGLY1	HP:0002659	Increased susceptibility to fractures
55768	NGLY1	HP:0001344	Absent speech
55768	NGLY1	HP:0002673	Coxa valga
55768	NGLY1	HP:0000007	Autosomal recessive inheritance
55768	NGLY1	HP:0001336	Myoclonus
55768	NGLY1	HP:0001310	Dysmetria
55768	NGLY1	HP:0002650	Scoliosis
55768	NGLY1	HP:0000194	Open mouth
55768	NGLY1	HP:0025460	High myoinositol in brain by MRS
55768	NGLY1	HP:0012153	Hypotriglyceridemia
55768	NGLY1	HP:0025458	Decreased CSF albumin concentration
55768	NGLY1	HP:0025457	Decreased CSF protein concentration
55768	NGLY1	HP:0001488	Bilateral ptosis
55768	NGLY1	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration
55768	NGLY1	HP:0008954	Intrinsic hand muscle atrophy
55768	NGLY1	HP:0006254	Elevated circulating alpha-fetoprotein concentration
55768	NGLY1	HP:0025401	Staring gaze
55768	NGLY1	HP:0002750	Delayed skeletal maturation
55768	NGLY1	HP:0001414	Microvesicular hepatic steatosis
55768	NGLY1	HP:0001413	Micronodular cirrhosis
55768	NGLY1	HP:0030978	Decreased CSF/serum albumin ratio
55768	NGLY1	HP:0003348	Hyperalaninemia
55768	NGLY1	HP:0030980	Reduced brain glutamine level by MRS
55768	NGLY1	HP:0030906	Suck reflex
55768	NGLY1	HP:0011800	Midface retrusion
55768	NGLY1	HP:0002098	Respiratory distress
55768	NGLY1	HP:0002072	Chorea
55768	NGLY1	HP:0002059	Cerebral atrophy
55768	NGLY1	HP:0008151	Prolonged prothrombin time
55768	NGLY1	HP:0002151	Increased serum lactate
55768	NGLY1	HP:0002123	Generalized myoclonic seizure
55768	NGLY1	HP:0002121	Generalized non-motor (absence) seizure
55768	NGLY1	HP:0002119	Ventriculomegaly
55768	NGLY1	HP:0003448	Decreased sensory nerve conduction velocity
55768	NGLY1	HP:0003447	Axonal loss
55768	NGLY1	HP:0011900	Hypofibrinogenemia
55768	NGLY1	HP:0002188	Delayed CNS myelination
55768	NGLY1	HP:0002187	Intellectual disability, profound
55768	NGLY1	HP:0002159	Heparan sulfate excretion in urine
55768	NGLY1	HP:0002171	Gliosis
55768	NGLY1	HP:0010536	Central sleep apnea
55768	NGLY1	HP:0003593	Infantile onset
55768	NGLY1	HP:0002240	Hepatomegaly
55768	NGLY1	HP:0003563	Decreased LDL cholesterol concentration
55768	NGLY1	HP:0002205	Recurrent respiratory infections
55768	NGLY1	HP:0003535	3-Methylglutaconic aciduria
55768	NGLY1	HP:0200136	Oral-pharyngeal dysphagia
55768	NGLY1	HP:0007021	Pain insensitivity
55768	NGLY1	HP:0011954	Nodular regenerative hyperplasia of liver
55768	NGLY1	HP:0020037	Astasia
55768	NGLY1	HP:0002376	Developmental regression
55768	NGLY1	HP:0002345	Action tremor
55768	NGLY1	HP:0002353	EEG abnormality
55768	NGLY1	HP:0010821	Focal emotional seizure with laughing
55768	NGLY1	HP:0010819	Atonic seizure
55768	NGLY1	HP:0009830	Peripheral neuropathy
55768	NGLY1	HP:0200055	Small hand
55768	NGLY1	HP:0007141	Sensorimotor neuropathy
55768	NGLY1	HP:0002305	Athetosis
55768	NGLY1	HP:0005543	Reduced protein C activity
55768	NGLY1	HP:0000633	Decreased lacrimation
55768	NGLY1	HP:0000648	Optic atrophy
55768	NGLY1	HP:0001945	Fever
55768	NGLY1	HP:0001929	Reduced factor XI activity
55768	NGLY1	HP:0000657	Oculomotor apraxia
55768	NGLY1	HP:0004325	Decreased body weight
55768	NGLY1	HP:0004305	Involuntary movements
55768	NGLY1	HP:0003086	Acromesomelia
55768	NGLY1	HP:0004349	Reduced bone mineral density
55768	NGLY1	HP:0100022	Abnormality of movement
55768	NGLY1	HP:0012706	Elevated brain choline level by MRS
55768	NGLY1	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
55768	NGLY1	HP:0000711	Restlessness
55768	NGLY1	HP:0011496	Corneal neovascularization
55768	NGLY1	HP:0003121	Limb joint contracture
55768	NGLY1	HP:0012804	Corneal ulceration
55768	NGLY1	HP:0040209	Decreased CSF biopterin level
55768	NGLY1	HP:0000975	Hyperhidrosis
55768	NGLY1	HP:0000954	Single transverse palmar crease
55768	NGLY1	HP:0000970	Anhidrosis
55768	NGLY1	HP:0000939	Osteoporosis
55768	NGLY1	HP:0033044	Motor regression
55768	NGLY1	HP:0000297	Facial hypotonia
55768	NGLY1	HP:0000275	Narrow face
55768	NGLY1	HP:0000252	Microcephaly
55768	NGLY1	HP:0000248	Brachycephaly
55768	NGLY1	HP:0030001	Lagophthalmos
55768	NGLY1	HP:0002870	Obstructive sleep apnea
55768	NGLY1	HP:0001508	Failure to thrive
55768	NGLY1	HP:0001518	Small for gestational age
55768	NGLY1	HP:0030194	Fatigable weakness of speech muscles
55768	NGLY1	HP:0002910	Elevated hepatic transaminase
55768	NGLY1	HP:0002909	Generalized aminoaciduria
55768	NGLY1	HP:0012340	Decreased resting energy expenditure
55768	NGLY1	HP:0000369	Low-set ears
55768	NGLY1	HP:0000350	Small forehead
55768	NGLY1	HP:0032794	Myoclonic seizure
55768	NGLY1	HP:0000316	Hypertelorism
55768	NGLY1	HP:0000307	Pointed chin
55768	NGLY1	HP:0007957	Corneal opacity
55768	NGLY1	HP:0011167	Focal tonic seizure
55768	NGLY1	HP:0000486	Strabismus
55768	NGLY1	HP:0012469	Infantile spasms
55768	NGLY1	HP:0000463	Anteverted nares
55768	NGLY1	HP:0012448	Delayed myelination
55768	NGLY1	HP:0012447	Abnormal myelination
55768	NGLY1	HP:0012450	Chronic constipation
55768	NGLY1	HP:0001771	Achilles tendon contracture
55768	NGLY1	HP:0001773	Short foot
55768	NGLY1	HP:0001744	Splenomegaly
55768	NGLY1	HP:0005484	Secondary microcephaly
55768	NGLY1	HP:0000522	Alacrima
55768	NGLY1	HP:0000508	Ptosis
55768	NGLY1	HP:0000580	Pigmentary retinopathy
55768	NGLY1	HP:0000577	Exotropia
55768	NGLY1	HP:0000559	Corneal scarring
55768	NGLY1	HP:0012531	Pain
55768	NGLY1	HP:0012520	Dilation of Virchow-Robin spaces
55768	NGLY1	HP:0000548	Cone/cone-rod dystrophy
55768	NGLY1	HP:0000543	Optic disc pallor
55770	EXOC2	HP:0020206	Simple ear
55770	EXOC2	HP:0002419	Molar tooth sign on MRI
55770	EXOC2	HP:0001250	Seizure
55770	EXOC2	HP:0002510	Spastic tetraplegia
55770	EXOC2	HP:0025386	Bitemporal hollowing
55770	EXOC2	HP:0001371	Flexion contracture
55770	EXOC2	HP:0000007	Autosomal recessive inheritance
55770	EXOC2	HP:0001320	Cerebellar vermis hypoplasia
55770	EXOC2	HP:0001321	Cerebellar hypoplasia
55770	EXOC2	HP:0002079	Hypoplasia of the corpus callosum
55770	EXOC2	HP:0003429	CNS hypomyelination
55770	EXOC2	HP:0002198	Dilated fourth ventricle
55770	EXOC2	HP:0002263	Exaggerated cupid's bow
55770	EXOC2	HP:0003593	Infantile onset
55770	EXOC2	HP:0003577	Congenital onset
55770	EXOC2	HP:0010664	Fusion of the left and right thalami
55770	EXOC2	HP:0002365	Hypoplasia of the brainstem
55770	EXOC2	HP:0011344	Severe global developmental delay
55770	EXOC2	HP:0031913	Rhombencephalosynapsis
55770	EXOC2	HP:0030724	Central nervous system cyst
55770	EXOC2	HP:0000958	Dry skin
55770	EXOC2	HP:0007766	Optic disc hypoplasia
55770	EXOC2	HP:0000219	Thin upper lip vermilion
55770	EXOC2	HP:0002870	Obstructive sleep apnea
55770	EXOC2	HP:0000369	Low-set ears
55770	EXOC2	HP:0000340	Sloping forehead
55770	EXOC2	HP:0000343	Long philtrum
55770	EXOC2	HP:0000319	Smooth philtrum
55770	EXOC2	HP:0000316	Hypertelorism
55770	EXOC2	HP:0001629	Ventricular septal defect
55770	EXOC2	HP:0000300	Oval face
55770	EXOC2	HP:0006610	Wide intermamillary distance
55770	EXOC2	HP:0000437	Depressed nasal tip
55770	EXOC2	HP:0001747	Accessory spleen
55770	EXOC2	HP:0000431	Wide nasal bridge
55770	EXOC2	HP:0005484	Secondary microcephaly
55770	EXOC2	HP:0000582	Upslanted palpebral fissure
55773	TBC1D23	HP:0010864	Intellectual disability, severe
55773	TBC1D23	HP:0001290	Generalized hypotonia
55773	TBC1D23	HP:0001274	Agenesis of corpus callosum
55773	TBC1D23	HP:0001250	Seizure
55773	TBC1D23	HP:0001251	Ataxia
55773	TBC1D23	HP:0001265	Hyporeflexia
55773	TBC1D23	HP:0001260	Dysarthria
55773	TBC1D23	HP:0001263	Global developmental delay
55773	TBC1D23	HP:0001257	Spasticity
55773	TBC1D23	HP:0002540	Inability to walk
55773	TBC1D23	HP:0000007	Autosomal recessive inheritance
55773	TBC1D23	HP:0001321	Cerebellar hypoplasia
55773	TBC1D23	HP:0012110	Hypoplasia of the pons
55773	TBC1D23	HP:0002023	Anal atresia
55773	TBC1D23	HP:0002015	Dysphagia
55773	TBC1D23	HP:0002079	Hypoplasia of the corpus callosum
55773	TBC1D23	HP:0002070	Limb ataxia
55773	TBC1D23	HP:0002136	Broad-based gait
55773	TBC1D23	HP:0003593	Infantile onset
55773	TBC1D23	HP:0003577	Congenital onset
55773	TBC1D23	HP:0100716	Self-injurious behavior
55773	TBC1D23	HP:0002205	Recurrent respiratory infections
55773	TBC1D23	HP:0007018	Attention deficit hyperactivity disorder
55773	TBC1D23	HP:0002370	Poor coordination
55773	TBC1D23	HP:0002355	Difficulty walking
55773	TBC1D23	HP:0004325	Decreased body weight
55773	TBC1D23	HP:0004322	Short stature
55773	TBC1D23	HP:0000750	Delayed speech and language development
55773	TBC1D23	HP:0000729	Autistic behavior
55773	TBC1D23	HP:0040082	Happy demeanor
55773	TBC1D23	HP:0003202	Skeletal muscle atrophy
55773	TBC1D23	HP:0000252	Microcephaly
55773	TBC1D23	HP:0000400	Macrotia
55773	TBC1D23	HP:0000486	Strabismus
55773	TBC1D23	HP:0001763	Pes planus
55773	TBC1D23	HP:0000414	Bulbous nose
55773	TBC1D23	HP:0001762	Talipes equinovarus
55773	TBC1D23	HP:0000589	Coloboma
55773	TBC1D23	HP:0000565	Esotropia
55773	TBC1D23	HP:0000540	Hypermetropia
55775	TDP1	HP:0002464	Spastic dysarthria
55775	TDP1	HP:0001272	Cerebellar atrophy
55775	TDP1	HP:0001284	Areflexia
55775	TDP1	HP:0001250	Seizure
55775	TDP1	HP:0001251	Ataxia
55775	TDP1	HP:0001249	Intellectual disability
55775	TDP1	HP:0001265	Hyporeflexia
55775	TDP1	HP:0001260	Dysarthria
55775	TDP1	HP:0002503	Spinocerebellar tract degeneration
55775	TDP1	HP:0000007	Autosomal recessive inheritance
55775	TDP1	HP:0003376	Steppage gait
55775	TDP1	HP:0002059	Cerebral atrophy
55775	TDP1	HP:0003477	Peripheral axonal neuropathy
55775	TDP1	HP:0002166	Impaired vibration sensation in the lower limbs
55775	TDP1	HP:0002283	Global brain atrophy
55775	TDP1	HP:0007021	Pain insensitivity
55775	TDP1	HP:0003693	Distal amyotrophy
55775	TDP1	HP:0009830	Peripheral neuropathy
55775	TDP1	HP:0007141	Sensorimotor neuropathy
55775	TDP1	HP:0006858	Impaired distal proprioception
55775	TDP1	HP:0006855	Cerebellar vermis atrophy
55775	TDP1	HP:0000640	Gaze-evoked nystagmus
55775	TDP1	HP:0009053	Distal lower limb muscle weakness
55775	TDP1	HP:0003073	Hypoalbuminemia
55775	TDP1	HP:0000763	Sensory neuropathy
55775	TDP1	HP:0003124	Hypercholesterolemia
55775	TDP1	HP:0002936	Distal sensory impairment
55775	TDP1	HP:0001761	Pes cavus
55777	MBD5	HP:0002463	Language impairment
55777	MBD5	HP:0010864	Intellectual disability, severe
55777	MBD5	HP:0008551	Microtia
55777	MBD5	HP:0003763	Bruxism
55777	MBD5	HP:0001270	Motor delay
55777	MBD5	HP:0001250	Seizure
55777	MBD5	HP:0001252	Hypotonia
55777	MBD5	HP:0001251	Ataxia
55777	MBD5	HP:0001249	Intellectual disability
55777	MBD5	HP:0002591	Polyphagia
55777	MBD5	HP:0001263	Global developmental delay
55777	MBD5	HP:0008736	Hypoplasia of penis
55777	MBD5	HP:0007333	Hypoplasia of the frontal lobes
55777	MBD5	HP:0002553	Highly arched eyebrow
55777	MBD5	HP:0025336	Delayed ability to sit
55777	MBD5	HP:0000054	Micropenis
55777	MBD5	HP:0001385	Hip dysplasia
55777	MBD5	HP:0000028	Cryptorchidism
55777	MBD5	HP:0008897	Postnatal growth retardation
55777	MBD5	HP:0000006	Autosomal dominant inheritance
55777	MBD5	HP:0001320	Cerebellar vermis hypoplasia
55777	MBD5	HP:0002650	Scoliosis
55777	MBD5	HP:0000194	Open mouth
55777	MBD5	HP:0000158	Macroglossia
55777	MBD5	HP:0000154	Wide mouth
55777	MBD5	HP:0410018	Recurrent ear infections
55777	MBD5	HP:0002714	Downturned corners of mouth
55777	MBD5	HP:0002020	Gastroesophageal reflux
55777	MBD5	HP:0002019	Constipation
55777	MBD5	HP:0002000	Short columella
55777	MBD5	HP:0002007	Frontal bossing
55777	MBD5	HP:0011800	Midface retrusion
55777	MBD5	HP:0002162	Low posterior hairline
55777	MBD5	HP:0003593	Infantile onset
55777	MBD5	HP:0100716	Self-injurious behavior
55777	MBD5	HP:0002230	Generalized hirsutism
55777	MBD5	HP:0011968	Feeding difficulties
55777	MBD5	HP:0002360	Sleep disturbance
55777	MBD5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
55777	MBD5	HP:0010804	Tented upper lip vermilion
55777	MBD5	HP:0002307	Drooling
55777	MBD5	HP:0004209	Clinodactyly of the 5th finger
55777	MBD5	HP:0004279	Short palm
55777	MBD5	HP:0000691	Microdontia
55777	MBD5	HP:0000687	Widely spaced teeth
55777	MBD5	HP:0000664	Synophrys
55777	MBD5	HP:0004322	Short stature
55777	MBD5	HP:0034187	Clavicular pseudarthrosis
55777	MBD5	HP:0000752	Hyperactivity
55777	MBD5	HP:0100023	Recurrent hand flapping
55777	MBD5	HP:0000739	Anxiety
55777	MBD5	HP:0000733	Abnormal repetitive mannerisms
55777	MBD5	HP:0000736	Short attention span
55777	MBD5	HP:0000735	Impaired social interactions
55777	MBD5	HP:0000750	Delayed speech and language development
55777	MBD5	HP:0000749	Paroxysmal bursts of laughter
55777	MBD5	HP:0000748	Inappropriate laughter
55777	MBD5	HP:0000718	Aggressive behavior
55777	MBD5	HP:0000729	Autistic behavior
55777	MBD5	HP:0003196	Short nose
55777	MBD5	HP:0010306	Short thorax
55777	MBD5	HP:0008081	Pes valgus
55777	MBD5	HP:0005819	Short middle phalanx of finger
55777	MBD5	HP:0000280	Coarse facial features
55777	MBD5	HP:0000278	Retrognathia
55777	MBD5	HP:0000272	Malar flattening
55777	MBD5	HP:0001572	Macrodontia
55777	MBD5	HP:0000252	Microcephaly
55777	MBD5	HP:0000248	Brachycephaly
55777	MBD5	HP:0000219	Thin upper lip vermilion
55777	MBD5	HP:0000232	Everted lower lip vermilion
55777	MBD5	HP:0001510	Growth delay
55777	MBD5	HP:0000378	Cupped ear
55777	MBD5	HP:0002937	Hemivertebrae
55777	MBD5	HP:0000369	Low-set ears
55777	MBD5	HP:0000337	Broad forehead
55777	MBD5	HP:0000347	Micrognathia
55777	MBD5	HP:0000316	Hypertelorism
55777	MBD5	HP:0000331	Short chin
55777	MBD5	HP:0000303	Mandibular prognathia
55777	MBD5	HP:0000483	Astigmatism
55777	MBD5	HP:0000457	Depressed nasal ridge
55777	MBD5	HP:0001773	Short foot
55777	MBD5	HP:0000448	Prominent nose
55777	MBD5	HP:0000414	Bulbous nose
55777	MBD5	HP:0000411	Protruding ear
55777	MBD5	HP:0005484	Secondary microcephaly
55777	MBD5	HP:0005445	Enlarged posterior fossa
55777	MBD5	HP:0000527	Long eyelashes
55777	MBD5	HP:0001852	Sandal gap
55777	MBD5	HP:0000505	Visual impairment
55777	MBD5	HP:0000574	Thick eyebrow
55777	MBD5	HP:0000565	Esotropia
55777	MBD5	HP:0000540	Hypermetropia
55777	MBD5	HP:0000545	Myopia
55779	CFAP44	HP:0000007	Autosomal recessive inheritance
55779	CFAP44	HP:0032558	Absent sperm flagella
55779	CFAP44	HP:0032559	Short sperm flagella
55779	CFAP44	HP:0032560	Coiled sperm flagella
55779	CFAP44	HP:0011462	Young adult onset
55779	CFAP44	HP:0003251	Male infertility
55780	ERMARD	HP:0001256	Intellectual disability, mild
55780	ERMARD	HP:0001250	Seizure
55780	ERMARD	HP:0001263	Global developmental delay
55780	ERMARD	HP:0032388	Periventricular nodular heterotopia
55780	ERMARD	HP:0007359	Focal-onset seizure
55780	ERMARD	HP:0002538	Abnormal cerebral cortex morphology
55780	ERMARD	HP:0002553	Highly arched eyebrow
55780	ERMARD	HP:0002521	Hypsarrhythmia
55780	ERMARD	HP:0003834	Shoulder dislocation
55780	ERMARD	HP:0002500	Abnormal cerebral white matter morphology
55780	ERMARD	HP:0001388	Joint laxity
55780	ERMARD	HP:0001382	Joint hypermobility
55780	ERMARD	HP:0000047	Hypospadias
55780	ERMARD	HP:0001357	Plagiocephaly
55780	ERMARD	HP:0000006	Autosomal dominant inheritance
55780	ERMARD	HP:0001310	Dysmetria
55780	ERMARD	HP:0002650	Scoliosis
55780	ERMARD	HP:0001321	Cerebellar hypoplasia
55780	ERMARD	HP:0008947	Infantile muscular hypotonia
55780	ERMARD	HP:0002705	High, narrow palate
55780	ERMARD	HP:0002021	Pyloric stenosis
55780	ERMARD	HP:0002020	Gastroesophageal reflux
55780	ERMARD	HP:0002066	Gait ataxia
55780	ERMARD	HP:0002079	Hypoplasia of the corpus callosum
55780	ERMARD	HP:0002126	Polymicrogyria
55780	ERMARD	HP:0003593	Infantile onset
55780	ERMARD	HP:0002269	Abnormality of neuronal migration
55780	ERMARD	HP:0100790	Hernia
55780	ERMARD	HP:0002282	Gray matter heterotopia
55780	ERMARD	HP:0007165	Periventricular heterotopia
55780	ERMARD	HP:0004942	Aortic aneurysm
55780	ERMARD	HP:0000639	Nystagmus
55780	ERMARD	HP:0011342	Mild global developmental delay
55780	ERMARD	HP:0012639	Abnormal nervous system morphology
55780	ERMARD	HP:0001999	Abnormal facial shape
55780	ERMARD	HP:0012745	Short palpebral fissure
55780	ERMARD	HP:0000771	Gynecomastia
55780	ERMARD	HP:0000750	Delayed speech and language development
55780	ERMARD	HP:0000963	Thin skin
55780	ERMARD	HP:0000962	Hyperkeratosis
55780	ERMARD	HP:0000294	Low anterior hairline
55780	ERMARD	HP:0000289	Broad philtrum
55780	ERMARD	HP:0000256	Macrocephaly
55780	ERMARD	HP:0000268	Dolichocephaly
55780	ERMARD	HP:0030084	Clinodactyly
55780	ERMARD	HP:0001508	Failure to thrive
55780	ERMARD	HP:0030048	Colpocephaly
55780	ERMARD	HP:0001513	Obesity
55780	ERMARD	HP:0000368	Low-set, posteriorly rotated ears
55780	ERMARD	HP:0002999	Patellar dislocation
55780	ERMARD	HP:0000347	Micrognathia
55780	ERMARD	HP:0000316	Hypertelorism
55780	ERMARD	HP:0001643	Patent ductus arteriosus
55780	ERMARD	HP:0001659	Aortic regurgitation
55780	ERMARD	HP:0001654	Abnormal heart valve morphology
55780	ERMARD	HP:0006610	Wide intermamillary distance
55780	ERMARD	HP:0011153	Focal motor seizure
55780	ERMARD	HP:0000486	Strabismus
55780	ERMARD	HP:0012469	Infantile spasms
55780	ERMARD	HP:0012471	Thick vermilion border
55780	ERMARD	HP:0000470	Short neck
55780	ERMARD	HP:0001741	Phimosis
55780	ERMARD	HP:0006712	Aplasia/Hypoplasia of the ribs
55780	ERMARD	HP:0005487	Prominent metopic ridge
55780	ERMARD	HP:0001822	Hallux valgus
55780	ERMARD	HP:0001892	Abnormal bleeding
55780	ERMARD	HP:0011220	Prominent forehead
55780	ERMARD	HP:0001884	Talipes calcaneovalgus
55780	ERMARD	HP:0000540	Hypermetropia
55784	MCTP2	HP:0001195	Single umbilical artery
55784	MCTP2	HP:0009882	Short distal phalanx of finger
55784	MCTP2	HP:0001250	Seizure
55784	MCTP2	HP:0001263	Global developmental delay
55784	MCTP2	HP:0000054	Micropenis
55784	MCTP2	HP:0000047	Hypospadias
55784	MCTP2	HP:0000028	Cryptorchidism
55784	MCTP2	HP:0008897	Postnatal growth retardation
55784	MCTP2	HP:0000003	Multicystic kidney dysplasia
55784	MCTP2	HP:0000164	Abnormality of the dentition
55784	MCTP2	HP:0000175	Cleft palate
55784	MCTP2	HP:0002761	Generalized joint laxity
55784	MCTP2	HP:0100542	Abnormal localization of kidney
55784	MCTP2	HP:0002089	Pulmonary hypoplasia
55784	MCTP2	HP:0030918	Low 1-minute APGAR score
55784	MCTP2	HP:0007018	Attention deficit hyperactivity disorder
55784	MCTP2	HP:0200055	Small hand
55784	MCTP2	HP:0004322	Short stature
55784	MCTP2	HP:0004383	Hypoplastic left heart
55784	MCTP2	HP:0000750	Delayed speech and language development
55784	MCTP2	HP:0000729	Autistic behavior
55784	MCTP2	HP:0000776	Congenital diaphragmatic hernia
55784	MCTP2	HP:0005709	2-3 toe cutaneous syndactyly
55784	MCTP2	HP:0004471	Aplasia cutis congenita over the scalp vertex
55784	MCTP2	HP:0010297	Bifid tongue
55784	MCTP2	HP:0040019	Finger clinodactyly
55784	MCTP2	HP:0011560	Mitral atresia
55784	MCTP2	HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
55784	MCTP2	HP:0000954	Single transverse palmar crease
55784	MCTP2	HP:0009381	Short finger
55784	MCTP2	HP:0000280	Coarse facial features
55784	MCTP2	HP:0002827	Hip dislocation
55784	MCTP2	HP:0000252	Microcephaly
55784	MCTP2	HP:0000219	Thin upper lip vermilion
55784	MCTP2	HP:0002857	Genu valgum
55784	MCTP2	HP:0001508	Failure to thrive
55784	MCTP2	HP:0001518	Small for gestational age
55784	MCTP2	HP:0001511	Intrauterine growth retardation
55784	MCTP2	HP:0001510	Growth delay
55784	MCTP2	HP:0000365	Hearing impairment
55784	MCTP2	HP:0000369	Low-set ears
55784	MCTP2	HP:0001671	Abnormal cardiac septum morphology
55784	MCTP2	HP:0001680	Coarctation of aorta
55784	MCTP2	HP:0000347	Micrognathia
55784	MCTP2	HP:0012303	Abnormal aortic arch morphology
55784	MCTP2	HP:0001647	Bicuspid aortic valve
55784	MCTP2	HP:0000316	Hypertelorism
55784	MCTP2	HP:0001643	Patent ductus arteriosus
55784	MCTP2	HP:0000322	Short philtrum
55784	MCTP2	HP:0000325	Triangular face
55784	MCTP2	HP:0001718	Mitral stenosis
55784	MCTP2	HP:0000486	Strabismus
55784	MCTP2	HP:0000476	Cystic hygroma
55784	MCTP2	HP:0001792	Small nail
55784	MCTP2	HP:0000455	Broad nasal tip
55784	MCTP2	HP:0001762	Talipes equinovarus
55784	MCTP2	HP:0005469	Flat occiput
55784	MCTP2	HP:0000582	Upslanted palpebral fissure
55784	MCTP2	HP:0000581	Blepharophimosis
55784	MCTP2	HP:0030353	Decreased serum insulin-like growth factor 1
55788	LMBRD1	HP:0008551	Microtia
55788	LMBRD1	HP:0001290	Generalized hypotonia
55788	LMBRD1	HP:0001254	Lethargy
55788	LMBRD1	HP:0001250	Seizure
55788	LMBRD1	HP:0001252	Hypotonia
55788	LMBRD1	HP:0001249	Intellectual disability
55788	LMBRD1	HP:0001263	Global developmental delay
55788	LMBRD1	HP:0002575	Tracheoesophageal fistula
55788	LMBRD1	HP:0000007	Autosomal recessive inheritance
55788	LMBRD1	HP:0000175	Cleft palate
55788	LMBRD1	HP:0012120	Methylmalonic aciduria
55788	LMBRD1	HP:0000122	Unilateral renal agenesis
55788	LMBRD1	HP:0002719	Recurrent infections
55788	LMBRD1	HP:0100502	Vitamin B12 deficiency
55788	LMBRD1	HP:0002156	Homocystinuria
55788	LMBRD1	HP:0002160	Hyperhomocystinemia
55788	LMBRD1	HP:0003593	Infantile onset
55788	LMBRD1	HP:0002240	Hepatomegaly
55788	LMBRD1	HP:0003524	Decreased methionine synthase activity
55788	LMBRD1	HP:0011968	Feeding difficulties
55788	LMBRD1	HP:0003658	Hypomethioninemia
55788	LMBRD1	HP:0033443	Elevated circulating propionylcarnitine concentration
55788	LMBRD1	HP:0003623	Neonatal onset
55788	LMBRD1	HP:0002311	Incoordination
55788	LMBRD1	HP:0003621	Juvenile onset
55788	LMBRD1	HP:0001903	Anemia
55788	LMBRD1	HP:0001999	Abnormal facial shape
55788	LMBRD1	HP:0004322	Short stature
55788	LMBRD1	HP:0011463	Childhood onset
55788	LMBRD1	HP:0012758	Neurodevelopmental delay
55788	LMBRD1	HP:0030746	Intraventricular hemorrhage
55788	LMBRD1	HP:0003153	Cystathioninuria
55788	LMBRD1	HP:0003145	Decreased adenosylcobalamin
55788	LMBRD1	HP:0010280	Stomatitis
55788	LMBRD1	HP:0003223	Decreased methylcobalamin
55788	LMBRD1	HP:0003286	Cystathioninemia
55788	LMBRD1	HP:0000988	Skin rash
55788	LMBRD1	HP:0000286	Epicanthus
55788	LMBRD1	HP:0000219	Thin upper lip vermilion
55788	LMBRD1	HP:0000218	High palate
55788	LMBRD1	HP:0000206	Glossitis
55788	LMBRD1	HP:0001508	Failure to thrive
55788	LMBRD1	HP:0001518	Small for gestational age
55788	LMBRD1	HP:0001511	Intrauterine growth retardation
55788	LMBRD1	HP:0001510	Growth delay
55788	LMBRD1	HP:0006571	Reduced number of intrahepatic bile ducts
55788	LMBRD1	HP:0002912	Methylmalonic acidemia
55788	LMBRD1	HP:0000369	Low-set ears
55788	LMBRD1	HP:0001651	Dextrocardia
55788	LMBRD1	HP:0001643	Patent ductus arteriosus
55788	LMBRD1	HP:0001627	Abnormal heart morphology
55788	LMBRD1	HP:0001631	Atrial septal defect
55788	LMBRD1	HP:0031544	Elevated circulating palmitoleylcarnitine concentration
55788	LMBRD1	HP:0001762	Talipes equinovarus
55788	LMBRD1	HP:0001889	Megaloblastic anemia
55788	LMBRD1	HP:0001873	Thrombocytopenia
55788	LMBRD1	HP:0001876	Pancytopenia
55788	LMBRD1	HP:0001875	Neutropenia
55790	CSGALNACT1	HP:0001156	Brachydactyly
55790	CSGALNACT1	HP:0010880	Increased nuchal translucency
55790	CSGALNACT1	HP:0001270	Motor delay
55790	CSGALNACT1	HP:0001252	Hypotonia
55790	CSGALNACT1	HP:0001249	Intellectual disability
55790	CSGALNACT1	HP:0006094	Finger joint hypermobility
55790	CSGALNACT1	HP:0001377	Limited elbow extension
55790	CSGALNACT1	HP:0001373	Joint dislocation
55790	CSGALNACT1	HP:0001388	Joint laxity
55790	CSGALNACT1	HP:0008873	Disproportionate short-limb short stature
55790	CSGALNACT1	HP:0001331	Absent septum pellucidum
55790	CSGALNACT1	HP:0002673	Coxa valga
55790	CSGALNACT1	HP:0000007	Autosomal recessive inheritance
55790	CSGALNACT1	HP:0002650	Scoliosis
55790	CSGALNACT1	HP:0002643	Neonatal respiratory distress
55790	CSGALNACT1	HP:0003366	Abnormal femoral neck/head morphology
55790	CSGALNACT1	HP:0004691	2-3 toe syndactyly
55790	CSGALNACT1	HP:0002007	Frontal bossing
55790	CSGALNACT1	HP:0003307	Hyperlordosis
55790	CSGALNACT1	HP:0003316	Butterfly vertebrae
55790	CSGALNACT1	HP:0011800	Midface retrusion
55790	CSGALNACT1	HP:0033102	Monkey wrench femoral neck
55790	CSGALNACT1	HP:0002119	Ventriculomegaly
55790	CSGALNACT1	HP:0003417	Coronal cleft vertebrae
55790	CSGALNACT1	HP:0100490	Camptodactyly of finger
55790	CSGALNACT1	HP:0007018	Attention deficit hyperactivity disorder
55790	CSGALNACT1	HP:0003510	Severe short stature
55790	CSGALNACT1	HP:0003691	Scapular winging
55790	CSGALNACT1	HP:0200055	Small hand
55790	CSGALNACT1	HP:0007165	Periventricular heterotopia
55790	CSGALNACT1	HP:0004209	Clinodactyly of the 5th finger
55790	CSGALNACT1	HP:0004322	Short stature
55790	CSGALNACT1	HP:0005616	Accelerated skeletal maturation
55790	CSGALNACT1	HP:0003066	Limited knee extension
55790	CSGALNACT1	HP:0005692	Joint hyperflexibility
55790	CSGALNACT1	HP:0003042	Elbow dislocation
55790	CSGALNACT1	HP:0000767	Pectus excavatum
55790	CSGALNACT1	HP:0003180	Flat acetabular roof
55790	CSGALNACT1	HP:0040022	Clinodactyly of the 2nd finger
55790	CSGALNACT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
55790	CSGALNACT1	HP:0000954	Single transverse palmar crease
55790	CSGALNACT1	HP:0000944	Abnormal metaphysis morphology
55790	CSGALNACT1	HP:0008070	Sparse hair
55790	CSGALNACT1	HP:0001591	Bell-shaped thorax
55790	CSGALNACT1	HP:0000256	Macrocephaly
55790	CSGALNACT1	HP:0002816	Genu recurvatum
55790	CSGALNACT1	HP:0002812	Coxa vara
55790	CSGALNACT1	HP:0002857	Genu valgum
55790	CSGALNACT1	HP:0005180	Tricuspid regurgitation
55790	CSGALNACT1	HP:0000368	Low-set, posteriorly rotated ears
55790	CSGALNACT1	HP:0000343	Long philtrum
55790	CSGALNACT1	HP:0002999	Patellar dislocation
55790	CSGALNACT1	HP:0002983	Micromelia
55790	CSGALNACT1	HP:0001643	Patent ductus arteriosus
55790	CSGALNACT1	HP:0000311	Round face
55790	CSGALNACT1	HP:0002974	Radioulnar synostosis
55790	CSGALNACT1	HP:0001655	Patent foramen ovale
55790	CSGALNACT1	HP:0001629	Ventricular septal defect
55790	CSGALNACT1	HP:0000308	Microretrognathia
55790	CSGALNACT1	HP:0001631	Atrial septal defect
55790	CSGALNACT1	HP:0000499	Abnormal eyelash morphology
55790	CSGALNACT1	HP:0005274	Prominent nasal tip
55790	CSGALNACT1	HP:0005280	Depressed nasal bridge
55790	CSGALNACT1	HP:0000494	Downslanted palpebral fissures
55790	CSGALNACT1	HP:0000463	Anteverted nares
55790	CSGALNACT1	HP:0000470	Short neck
55790	CSGALNACT1	HP:0001763	Pes planus
55790	CSGALNACT1	HP:0000444	Convex nasal ridge
55790	CSGALNACT1	HP:0000520	Proptosis
55790	CSGALNACT1	HP:0000501	Glaucoma
55790	CSGALNACT1	HP:0000592	Blue sclerae
55790	CSGALNACT1	HP:0000540	Hypermetropia
55791	LRIF1	HP:0003701	Proximal muscle weakness
55791	LRIF1	HP:0010984	Digenic inheritance
55791	LRIF1	HP:0003596	Middle age onset
55791	LRIF1	HP:0003551	Difficulty climbing stairs
55791	LRIF1	HP:0003547	Shoulder girdle muscle weakness
55791	LRIF1	HP:0011951	Aspiration pneumonia
55791	LRIF1	HP:0003691	Scapular winging
55791	LRIF1	HP:0034045	Angulated muscle fibers
55791	LRIF1	HP:0012378	Fatigue
55791	LRIF1	HP:0030319	Weakness of facial musculature
55791	LRIF1	HP:0000467	Neck muscle weakness
55800	SCN3B	HP:0001279	Syncope
55800	SCN3B	HP:0000006	Autosomal dominant inheritance
55800	SCN3B	HP:0011715	Trifascicular block
55800	SCN3B	HP:0011712	Right bundle branch block
55800	SCN3B	HP:0011704	Sick sinus syndrome
55800	SCN3B	HP:0011705	First degree atrioventricular block
55800	SCN3B	HP:0004757	Paroxysmal atrial fibrillation
55800	SCN3B	HP:0004755	Supraventricular tachycardia
55800	SCN3B	HP:0004754	Permanent atrial fibrillation
55800	SCN3B	HP:0004751	Paroxysmal ventricular tachycardia
55800	SCN3B	HP:0004749	Atrial flutter
55800	SCN3B	HP:0003596	Middle age onset
55800	SCN3B	HP:0004308	Ventricular arrhythmia
55800	SCN3B	HP:0034308	Prolonged P wave
55800	SCN3B	HP:0012251	ST segment elevation
55800	SCN3B	HP:0001695	Cardiac arrest
55800	SCN3B	HP:0001649	Tachycardia
55800	SCN3B	HP:0001663	Ventricular fibrillation
55800	SCN3B	HP:0025710	Late young adult onset
55806	HR	HP:0002555	Absent pubic hair
55806	HR	HP:0100840	Aplasia/Hypoplasia of the eyebrow
55806	HR	HP:0007482	Generalized papillary lesions
55806	HR	HP:0000007	Autosomal recessive inheritance
55806	HR	HP:0002223	Absent eyebrow
55806	HR	HP:0002221	Absent axillary hair
55806	HR	HP:0200102	Sparse or absent eyelashes
55806	HR	HP:0002232	Patchy alopecia
55806	HR	HP:0002209	Sparse scalp hair
55806	HR	HP:0002208	Coarse hair
55806	HR	HP:0002289	Alopecia universalis
55806	HR	HP:0003623	Neonatal onset
55806	HR	HP:0008070	Sparse hair
55806	HR	HP:0001596	Alopecia
55806	HR	HP:0000561	Absent eyelashes
55811	ADCY10	HP:0008672	Calcium oxalate nephrolithiasis
55811	ADCY10	HP:0000006	Autosomal dominant inheritance
55811	ADCY10	HP:0002150	Hypercalciuria
55811	ADCY10	HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption
55811	ADCY10	HP:0012637	Renal calcium wasting
55811	ADCY10	HP:0004363	Abnormal circulating calcium concentration
55811	ADCY10	HP:0000939	Osteoporosis
55811	ADCY10	HP:0000938	Osteopenia
55812	SPATA7	HP:0001133	Constriction of peripheral visual field
55812	SPATA7	HP:0001141	Severely reduced visual acuity
55812	SPATA7	HP:0001103	Abnormal macular morphology
55812	SPATA7	HP:0001116	Macular coloboma
55812	SPATA7	HP:0001250	Seizure
55812	SPATA7	HP:0001252	Hypotonia
55812	SPATA7	HP:0001249	Intellectual disability
55812	SPATA7	HP:0001263	Global developmental delay
55812	SPATA7	HP:0008736	Hypoplasia of penis
55812	SPATA7	HP:0001347	Hyperreflexia
55812	SPATA7	HP:0000035	Abnormal testis morphology
55812	SPATA7	HP:0000007	Autosomal recessive inheritance
55812	SPATA7	HP:0000135	Hypogonadism
55812	SPATA7	HP:0007675	Progressive night blindness
55812	SPATA7	HP:0007663	Reduced visual acuity
55812	SPATA7	HP:0005978	Type II diabetes mellitus
55812	SPATA7	HP:0002084	Encephalocele
55812	SPATA7	HP:0002172	Postural instability
55812	SPATA7	HP:0003593	Infantile onset
55812	SPATA7	HP:0002269	Abnormality of neuronal migration
55812	SPATA7	HP:0002317	Unsteady gait
55812	SPATA7	HP:0003623	Neonatal onset
55812	SPATA7	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
55812	SPATA7	HP:0000639	Nystagmus
55812	SPATA7	HP:0000648	Optic atrophy
55812	SPATA7	HP:0000618	Blindness
55812	SPATA7	HP:0000613	Photophobia
55812	SPATA7	HP:0000622	Blurred vision
55812	SPATA7	HP:0000602	Ophthalmoplegia
55812	SPATA7	HP:0011342	Mild global developmental delay
55812	SPATA7	HP:0000662	Nyctalopia
55812	SPATA7	HP:0004374	Hemiplegia/hemiparesis
55812	SPATA7	HP:0011488	Abnormal corneal endothelium morphology
55812	SPATA7	HP:0011484	Posterior synechiae of the anterior chamber
55812	SPATA7	HP:0012795	Abnormal optic disc morphology
55812	SPATA7	HP:0000842	Hyperinsulinemia
55812	SPATA7	HP:0000987	Atypical scarring of skin
55812	SPATA7	HP:0008046	Abnormal retinal vascular morphology
55812	SPATA7	HP:0007722	Retinal pigment epithelial atrophy
55812	SPATA7	HP:0007703	Abnormality of retinal pigmentation
55812	SPATA7	HP:0007793	Granular macular appearance
55812	SPATA7	HP:0007787	Posterior subcapsular cataract
55812	SPATA7	HP:0007737	Bone spicule pigmentation of the retina
55812	SPATA7	HP:0007695	Abnormal pupillary light reflex
55812	SPATA7	HP:0012230	Rhegmatogenous retinal detachment
55812	SPATA7	HP:0001513	Obesity
55812	SPATA7	HP:0007843	Attenuation of retinal blood vessels
55812	SPATA7	HP:0007814	Retinal pigment epithelial mottling
55812	SPATA7	HP:0000365	Hearing impairment
55812	SPATA7	HP:0007994	Peripheral visual field loss
55812	SPATA7	HP:0000407	Sensorineural hearing impairment
55812	SPATA7	HP:0000405	Conductive hearing impairment
55812	SPATA7	HP:0000463	Anteverted nares
55812	SPATA7	HP:0012434	Delayed social development
55812	SPATA7	HP:0012426	Optic disc drusen
55812	SPATA7	HP:0000431	Wide nasal bridge
55812	SPATA7	HP:0000518	Cataract
55812	SPATA7	HP:0000512	Abnormal electroretinogram
55812	SPATA7	HP:0000505	Visual impairment
55812	SPATA7	HP:0000501	Glaucoma
55812	SPATA7	HP:0000577	Exotropia
55812	SPATA7	HP:0000563	Keratoconus
55812	SPATA7	HP:0000572	Visual loss
55812	SPATA7	HP:0000541	Retinal detachment
55812	SPATA7	HP:0000533	Chorioretinal atrophy
55812	SPATA7	HP:0000550	Undetectable electroretinogram
55812	SPATA7	HP:0000551	Color vision defect
55812	SPATA7	HP:0000546	Retinal degeneration
55812	SPATA7	HP:0000543	Optic disc pallor
55812	SPATA7	HP:0000545	Myopia
55814	BDP1	HP:0000007	Autosomal recessive inheritance
55814	BDP1	HP:0011463	Childhood onset
55814	BDP1	HP:0000407	Sensorineural hearing impairment
55823	VPS11	HP:0002465	Poor speech
55823	VPS11	HP:0002451	Limb dystonia
55823	VPS11	HP:0007301	Oromotor apraxia
55823	VPS11	HP:0007281	Developmental stagnation
55823	VPS11	HP:0001272	Cerebellar atrophy
55823	VPS11	HP:0001250	Seizure
55823	VPS11	HP:0001252	Hypotonia
55823	VPS11	HP:0001249	Intellectual disability
55823	VPS11	HP:0001260	Dysarthria
55823	VPS11	HP:0001263	Global developmental delay
55823	VPS11	HP:0001257	Spasticity
55823	VPS11	HP:0002518	Abnormal periventricular white matter morphology
55823	VPS11	HP:0012049	Laryngeal dystonia
55823	VPS11	HP:0001371	Flexion contracture
55823	VPS11	HP:0000011	Neurogenic bladder
55823	VPS11	HP:0001344	Absent speech
55823	VPS11	HP:0000007	Autosomal recessive inheritance
55823	VPS11	HP:0007663	Reduced visual acuity
55823	VPS11	HP:0008936	Axial hypotonia
55823	VPS11	HP:0001433	Hepatosplenomegaly
55823	VPS11	HP:0002019	Constipation
55823	VPS11	HP:0002015	Dysphagia
55823	VPS11	HP:0005968	Temperature instability
55823	VPS11	HP:0002079	Hypoplasia of the corpus callosum
55823	VPS11	HP:0002119	Ventriculomegaly
55823	VPS11	HP:0002188	Delayed CNS myelination
55823	VPS11	HP:0100704	Cerebral visual impairment
55823	VPS11	HP:0002384	Focal impaired awareness seizure
55823	VPS11	HP:0002395	Lower limb hyperreflexia
55823	VPS11	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
55823	VPS11	HP:0007204	Diffuse white matter abnormalities
55823	VPS11	HP:0006808	Cerebral hypomyelination
55823	VPS11	HP:0000648	Optic atrophy
55823	VPS11	HP:0011344	Severe global developmental delay
55823	VPS11	HP:0011462	Young adult onset
55823	VPS11	HP:0012753	T2 hypointense basal ganglia
55823	VPS11	HP:0000280	Coarse facial features
55823	VPS11	HP:0002828	Multiple joint contractures
55823	VPS11	HP:0000252	Microcephaly
55823	VPS11	HP:0001510	Growth delay
55823	VPS11	HP:0000365	Hearing impairment
55823	VPS11	HP:0012332	Abnormal autonomic nervous system physiology
55823	VPS11	HP:0000407	Sensorineural hearing impairment
55823	VPS11	HP:0012448	Delayed myelination
55823	VPS11	HP:0012444	Brain atrophy
55823	VPS11	HP:0000473	Torticollis
55823	VPS11	HP:0005484	Secondary microcephaly
55830	GLT8D1	HP:0001257	Spasticity
55830	GLT8D1	HP:0007373	Motor neuron atrophy
55830	GLT8D1	HP:0007354	Amyotrophic lateral sclerosis
55830	GLT8D1	HP:0025425	Laryngospasm
55830	GLT8D1	HP:0002795	Abnormal respiratory system physiology
55830	GLT8D1	HP:0002017	Nausea and vomiting
55830	GLT8D1	HP:0003324	Generalized muscle weakness
55830	GLT8D1	HP:0002094	Dyspnea
55830	GLT8D1	HP:0003394	Muscle spasm
55830	GLT8D1	HP:0003470	Paralysis
55830	GLT8D1	HP:0002180	Neurodegeneration
55830	GLT8D1	HP:0000739	Anxiety
55830	GLT8D1	HP:0000716	Depression
55830	GLT8D1	HP:0000712	Emotional lability
55830	GLT8D1	HP:0000713	Agitation
55830	GLT8D1	HP:0003202	Skeletal muscle atrophy
55830	GLT8D1	HP:0000217	Xerostomia
55830	GLT8D1	HP:0002878	Respiratory failure
55830	GLT8D1	HP:0012378	Fatigue
55830	GLT8D1	HP:0030196	Fatigable weakness of respiratory muscles
55830	GLT8D1	HP:0030195	Fatigable weakness of swallowing muscles
55830	GLT8D1	HP:0030192	Fatigable weakness of bulbar muscles
55830	GLT8D1	HP:0012531	Pain
55835	CENPJ	HP:0002472	Small cerebral cortex
55835	CENPJ	HP:0010864	Intellectual disability, severe
55835	CENPJ	HP:0008551	Microtia
55835	CENPJ	HP:0001274	Agenesis of corpus callosum
55835	CENPJ	HP:0001256	Intellectual disability, mild
55835	CENPJ	HP:0001250	Seizure
55835	CENPJ	HP:0001249	Intellectual disability
55835	CENPJ	HP:0001263	Global developmental delay
55835	CENPJ	HP:0007333	Hypoplasia of the frontal lobes
55835	CENPJ	HP:0000076	Vesicoureteral reflux
55835	CENPJ	HP:0001385	Hip dysplasia
55835	CENPJ	HP:0001347	Hyperreflexia
55835	CENPJ	HP:0001363	Craniosynostosis
55835	CENPJ	HP:0007495	Prematurely aged appearance
55835	CENPJ	HP:0001344	Absent speech
55835	CENPJ	HP:0000007	Autosomal recessive inheritance
55835	CENPJ	HP:0001302	Pachygyria
55835	CENPJ	HP:0002650	Scoliosis
55835	CENPJ	HP:0000122	Unilateral renal agenesis
55835	CENPJ	HP:0002750	Delayed skeletal maturation
55835	CENPJ	HP:0100543	Cognitive impairment
55835	CENPJ	HP:0010455	Steep acetabular roof
55835	CENPJ	HP:0002119	Ventriculomegaly
55835	CENPJ	HP:0010579	Cone-shaped epiphysis
55835	CENPJ	HP:0003577	Congenital onset
55835	CENPJ	HP:0002209	Sparse scalp hair
55835	CENPJ	HP:0002282	Gray matter heterotopia
55835	CENPJ	HP:0003510	Severe short stature
55835	CENPJ	HP:0002342	Intellectual disability, moderate
55835	CENPJ	HP:0009804	Tooth agenesis
55835	CENPJ	HP:0004209	Clinodactyly of the 5th finger
55835	CENPJ	HP:0000682	Abnormal dental enamel morphology
55835	CENPJ	HP:0011342	Mild global developmental delay
55835	CENPJ	HP:0004325	Decreased body weight
55835	CENPJ	HP:0004322	Short stature
55835	CENPJ	HP:0004326	Cachexia
55835	CENPJ	HP:0005692	Joint hyperflexibility
55835	CENPJ	HP:0003103	Abnormal cortical bone morphology
55835	CENPJ	HP:0000878	11 pairs of ribs
55835	CENPJ	HP:0000278	Retrognathia
55835	CENPJ	HP:0000275	Narrow face
55835	CENPJ	HP:0000252	Microcephaly
55835	CENPJ	HP:0000219	Thin upper lip vermilion
55835	CENPJ	HP:0001525	Severe failure to thrive
55835	CENPJ	HP:0001511	Intrauterine growth retardation
55835	CENPJ	HP:0001510	Growth delay
55835	CENPJ	HP:0000387	Absent earlobe
55835	CENPJ	HP:0000363	Abnormal earlobe morphology
55835	CENPJ	HP:0000369	Low-set ears
55835	CENPJ	HP:0000340	Sloping forehead
55835	CENPJ	HP:0000348	High forehead
55835	CENPJ	HP:0000347	Micrognathia
55835	CENPJ	HP:0000316	Hypertelorism
55835	CENPJ	HP:0000486	Strabismus
55835	CENPJ	HP:0000494	Downslanted palpebral fissures
55835	CENPJ	HP:0000456	Bifid nasal tip
55835	CENPJ	HP:0000444	Convex nasal ridge
55835	CENPJ	HP:0000430	Underdeveloped nasal alae
55835	CENPJ	HP:0001852	Sandal gap
55835	CENPJ	HP:0000501	Glaucoma
55835	CENPJ	HP:0000582	Upslanted palpebral fissure
55851	PSENEN	HP:0001155	Abnormality of the hand
55851	PSENEN	HP:0100838	Recurrent cutaneous abscess formation
55851	PSENEN	HP:0001231	Abnormal fingernail morphology
55851	PSENEN	HP:0001369	Arthritis
55851	PSENEN	HP:0007502	Follicular hyperkeratosis
55851	PSENEN	HP:0007456	Progressive reticulate hyperpigmentation
55851	PSENEN	HP:0000006	Autosomal dominant inheritance
55851	PSENEN	HP:0025473	Hyperpigmented papule
55851	PSENEN	HP:0031293	Digital pitting scar
55851	PSENEN	HP:0002046	Heat intolerance
55851	PSENEN	HP:0010610	Palmar pits
55851	PSENEN	HP:0020073	Hypopigmented macule
55851	PSENEN	HP:0001034	Hypermelanotic macule
55851	PSENEN	HP:0200037	Skin vesicle
55851	PSENEN	HP:0200040	Epidermoid cyst
55851	PSENEN	HP:0011354	Generalized abnormality of skin
55851	PSENEN	HP:0009123	Mixed hypo- and hyperpigmentation of the skin
55851	PSENEN	HP:0012855	Scrotal hyperpigmentation
55851	PSENEN	HP:0045059	Hyperkeratotic papule
55851	PSENEN	HP:0000989	Pruritus
55851	PSENEN	HP:0000962	Hyperkeratosis
55851	PSENEN	HP:0040154	Acne inversa
55851	PSENEN	HP:0002860	Squamous cell carcinoma
55851	PSENEN	HP:0030052	Inguinal freckling
55851	PSENEN	HP:0031525	Keratoacanthoma
55851	PSENEN	HP:0031447	Penile freckling
55851	PSENEN	HP:0012322	Perifolliculitis
55851	PSENEN	HP:0011132	Chronic furunculosis
55851	PSENEN	HP:0000464	Abnormality of the neck
55851	PSENEN	HP:0030442	Anal margin squamous cell carcinoma
55851	PSENEN	HP:0030350	Erythematous papule
55857	KIZ	HP:0001133	Constriction of peripheral visual field
55857	KIZ	HP:0001249	Intellectual disability
55857	KIZ	HP:0008736	Hypoplasia of penis
55857	KIZ	HP:0001347	Hyperreflexia
55857	KIZ	HP:0000035	Abnormal testis morphology
55857	KIZ	HP:0000007	Autosomal recessive inheritance
55857	KIZ	HP:0000135	Hypogonadism
55857	KIZ	HP:0007675	Progressive night blindness
55857	KIZ	HP:0007663	Reduced visual acuity
55857	KIZ	HP:0005978	Type II diabetes mellitus
55857	KIZ	HP:0003621	Juvenile onset
55857	KIZ	HP:0000639	Nystagmus
55857	KIZ	HP:0000648	Optic atrophy
55857	KIZ	HP:0000618	Blindness
55857	KIZ	HP:0000613	Photophobia
55857	KIZ	HP:0000602	Ophthalmoplegia
55857	KIZ	HP:0000662	Nyctalopia
55857	KIZ	HP:0034272	Perifoveal hypoautofluorescence
55857	KIZ	HP:0000842	Hyperinsulinemia
55857	KIZ	HP:0000987	Atypical scarring of skin
55857	KIZ	HP:0008046	Abnormal retinal vascular morphology
55857	KIZ	HP:0007703	Abnormality of retinal pigmentation
55857	KIZ	HP:0001513	Obesity
55857	KIZ	HP:0000407	Sensorineural hearing impairment
55857	KIZ	HP:0000405	Conductive hearing impairment
55857	KIZ	HP:0000463	Anteverted nares
55857	KIZ	HP:0000431	Wide nasal bridge
55857	KIZ	HP:0000518	Cataract
55857	KIZ	HP:0000510	Rod-cone dystrophy
55857	KIZ	HP:0000512	Abnormal electroretinogram
55857	KIZ	HP:0000505	Visual impairment
55857	KIZ	HP:0000501	Glaucoma
55857	KIZ	HP:0000580	Pigmentary retinopathy
55857	KIZ	HP:0000563	Keratoconus
55857	KIZ	HP:0000550	Undetectable electroretinogram
55858	TMEM165	HP:0001250	Seizure
55858	TMEM165	HP:0001252	Hypotonia
55858	TMEM165	HP:0001263	Global developmental delay
55858	TMEM165	HP:0002500	Abnormal cerebral white matter morphology
55858	TMEM165	HP:0001388	Joint laxity
55858	TMEM165	HP:0002656	Epiphyseal dysplasia
55858	TMEM165	HP:0001324	Muscle weakness
55858	TMEM165	HP:0000007	Autosomal recessive inheritance
55858	TMEM165	HP:0002751	Kyphoscoliosis
55858	TMEM165	HP:0011800	Midface retrusion
55858	TMEM165	HP:0002240	Hepatomegaly
55858	TMEM165	HP:0005575	Hemolytic-uremic syndrome
55858	TMEM165	HP:0001955	Unexplained fevers
55858	TMEM165	HP:0004322	Short stature
55858	TMEM165	HP:0031956	Elevated circulating aspartate aminotransferase concentration
55858	TMEM165	HP:0031964	Elevated circulating alanine aminotransferase concentration
55858	TMEM165	HP:0000705	Amelogenesis imperfecta
55858	TMEM165	HP:0003236	Elevated circulating creatine kinase concentration
55858	TMEM165	HP:0100252	Diaphyseal dysplasia
55858	TMEM165	HP:0100255	Metaphyseal dysplasia
55858	TMEM165	HP:0000939	Osteoporosis
55858	TMEM165	HP:0000272	Malar flattening
55858	TMEM165	HP:0001508	Failure to thrive
55858	TMEM165	HP:0001510	Growth delay
55858	TMEM165	HP:0000358	Posteriorly rotated ears
55858	TMEM165	HP:0000369	Low-set ears
55858	TMEM165	HP:0005484	Secondary microcephaly
55858	TMEM165	HP:0001873	Thrombocytopenia
55863	TMEM126B	HP:0025116	Fetal distress
55863	TMEM126B	HP:0002490	Increased CSF lactate
55863	TMEM126B	HP:0001138	Optic neuropathy
55863	TMEM126B	HP:0003774	Stage 5 chronic kidney disease
55863	TMEM126B	HP:0002421	Poor head control
55863	TMEM126B	HP:0003750	Increased muscle fatiguability
55863	TMEM126B	HP:0002415	Leukodystrophy
55863	TMEM126B	HP:0003738	Exercise-induced myalgia
55863	TMEM126B	HP:0003737	Mitochondrial myopathy
55863	TMEM126B	HP:0003701	Proximal muscle weakness
55863	TMEM126B	HP:0001298	Encephalopathy
55863	TMEM126B	HP:0001254	Lethargy
55863	TMEM126B	HP:0001252	Hypotonia
55863	TMEM126B	HP:0001251	Ataxia
55863	TMEM126B	HP:0001263	Global developmental delay
55863	TMEM126B	HP:0001324	Muscle weakness
55863	TMEM126B	HP:0000007	Autosomal recessive inheritance
55863	TMEM126B	HP:0000114	Proximal tubulopathy
55863	TMEM126B	HP:0003348	Hyperalaninemia
55863	TMEM126B	HP:0003326	Myalgia
55863	TMEM126B	HP:0002013	Vomiting
55863	TMEM126B	HP:0002094	Dyspnea
55863	TMEM126B	HP:0002093	Respiratory insufficiency
55863	TMEM126B	HP:0003388	Easy fatigability
55863	TMEM126B	HP:0002151	Increased serum lactate
55863	TMEM126B	HP:0011923	Decreased activity of mitochondrial complex I
55863	TMEM126B	HP:0002240	Hepatomegaly
55863	TMEM126B	HP:0003546	Exercise intolerance
55863	TMEM126B	HP:0003542	Increased serum pyruvate
55863	TMEM126B	HP:0011968	Feeding difficulties
55863	TMEM126B	HP:0008316	Abnormal mitochondria in muscle tissue
55863	TMEM126B	HP:0002352	Leukoencephalopathy
55863	TMEM126B	HP:0003648	Lacticaciduria
55863	TMEM126B	HP:0003621	Juvenile onset
55863	TMEM126B	HP:0000639	Nystagmus
55863	TMEM126B	HP:0001962	Palpitations
55863	TMEM126B	HP:0000618	Blindness
55863	TMEM126B	HP:0001943	Hypoglycemia
55863	TMEM126B	HP:0012748	Focal T2 hyperintense brainstem lesion
55863	TMEM126B	HP:0011463	Childhood onset
55863	TMEM126B	HP:0030774	Mitochondrial swelling
55863	TMEM126B	HP:0003128	Lactic acidosis
55863	TMEM126B	HP:0000819	Diabetes mellitus
55863	TMEM126B	HP:0000817	Reduced eye contact
55863	TMEM126B	HP:0007704	Paroxysmal involuntary eye movements
55863	TMEM126B	HP:0000252	Microcephaly
55863	TMEM126B	HP:0032653	Elevated lactate:pyruvate ratio
55863	TMEM126B	HP:0001508	Failure to thrive
55863	TMEM126B	HP:0001511	Intrauterine growth retardation
55863	TMEM126B	HP:0012378	Fatigue
55863	TMEM126B	HP:0001627	Abnormal heart morphology
55863	TMEM126B	HP:0001639	Hypertrophic cardiomyopathy
55863	TMEM126B	HP:0000407	Sensorineural hearing impairment
55863	TMEM126B	HP:0000486	Strabismus
55863	TMEM126B	HP:0025710	Late young adult onset
55863	TMEM126B	HP:0000508	Ptosis
55863	TMEM126B	HP:0000543	Optic disc pallor
55869	HDAC8	HP:0001182	Tapered finger
55869	HDAC8	HP:0002465	Poor speech
55869	HDAC8	HP:0009909	Uplifted earlobe
55869	HDAC8	HP:0010880	Increased nuchal translucency
55869	HDAC8	HP:0010864	Intellectual disability, severe
55869	HDAC8	HP:0008551	Microtia
55869	HDAC8	HP:0003764	Nevus
55869	HDAC8	HP:0001290	Generalized hypotonia
55869	HDAC8	HP:0001276	Hypertonia
55869	HDAC8	HP:0001250	Seizure
55869	HDAC8	HP:0002580	Volvulus
55869	HDAC8	HP:0001252	Hypotonia
55869	HDAC8	HP:0001249	Intellectual disability
55869	HDAC8	HP:0001263	Global developmental delay
55869	HDAC8	HP:0002557	Hypoplastic nipples
55869	HDAC8	HP:0002566	Intestinal malrotation
55869	HDAC8	HP:0008734	Decreased testicular size
55869	HDAC8	HP:0008736	Hypoplasia of penis
55869	HDAC8	HP:0007360	Aplasia/Hypoplasia of the cerebellum
55869	HDAC8	HP:0002553	Highly arched eyebrow
55869	HDAC8	HP:0003828	Variable expressivity
55869	HDAC8	HP:0000083	Renal insufficiency
55869	HDAC8	HP:0000059	Hypoplastic labia majora
55869	HDAC8	HP:0000076	Vesicoureteral reflux
55869	HDAC8	HP:0000044	Hypogonadotropic hypogonadism
55869	HDAC8	HP:0001377	Limited elbow extension
55869	HDAC8	HP:0000054	Micropenis
55869	HDAC8	HP:0001385	Hip dysplasia
55869	HDAC8	HP:0001387	Joint stiffness
55869	HDAC8	HP:0000047	Hypospadias
55869	HDAC8	HP:0000028	Cryptorchidism
55869	HDAC8	HP:0008897	Postnatal growth retardation
55869	HDAC8	HP:0008872	Feeding difficulties in infancy
55869	HDAC8	HP:0008850	Severe postnatal growth retardation
55869	HDAC8	HP:0001328	Specific learning disability
55869	HDAC8	HP:0000003	Multicystic kidney dysplasia
55869	HDAC8	HP:0012165	Oligodactyly
55869	HDAC8	HP:0000175	Cleft palate
55869	HDAC8	HP:0000135	Hypogonadism
55869	HDAC8	HP:0007665	Curly eyelashes
55869	HDAC8	HP:0007598	Bilateral single transverse palmar creases
55869	HDAC8	HP:0000130	Abnormality of the uterus
55869	HDAC8	HP:0001423	X-linked dominant inheritance
55869	HDAC8	HP:0002750	Delayed skeletal maturation
55869	HDAC8	HP:0001417	X-linked inheritance
55869	HDAC8	HP:0002714	Downturned corners of mouth
55869	HDAC8	HP:0002021	Pyloric stenosis
55869	HDAC8	HP:0002020	Gastroesophageal reflux
55869	HDAC8	HP:0002120	Cerebral cortical atrophy
55869	HDAC8	HP:0002119	Ventriculomegaly
55869	HDAC8	HP:0009623	Proximal placement of thumb
55869	HDAC8	HP:0002167	Abnormality of speech or vocalization
55869	HDAC8	HP:0002162	Low posterior hairline
55869	HDAC8	HP:0002230	Generalized hirsutism
55869	HDAC8	HP:0007018	Attention deficit hyperactivity disorder
55869	HDAC8	HP:0010620	Malar prominence
55869	HDAC8	HP:0002360	Sleep disturbance
55869	HDAC8	HP:0001007	Hirsutism
55869	HDAC8	HP:0009830	Peripheral neuropathy
55869	HDAC8	HP:0200055	Small hand
55869	HDAC8	HP:0004209	Clinodactyly of the 5th finger
55869	HDAC8	HP:0000639	Nystagmus
55869	HDAC8	HP:0001956	Truncal obesity
55869	HDAC8	HP:0010034	Short 1st metacarpal
55869	HDAC8	HP:0000684	Delayed eruption of teeth
55869	HDAC8	HP:0000687	Widely spaced teeth
55869	HDAC8	HP:0001999	Abnormal facial shape
55869	HDAC8	HP:0000667	Phthisis bulbi
55869	HDAC8	HP:0000664	Synophrys
55869	HDAC8	HP:0004322	Short stature
55869	HDAC8	HP:0030680	Abnormality of cardiovascular system morphology
55869	HDAC8	HP:0003042	Elbow dislocation
55869	HDAC8	HP:0000771	Gynecomastia
55869	HDAC8	HP:0000767	Pectus excavatum
55869	HDAC8	HP:0000739	Anxiety
55869	HDAC8	HP:0000717	Autism
55869	HDAC8	HP:0000712	Emotional lability
55869	HDAC8	HP:0000722	Compulsive behaviors
55869	HDAC8	HP:0000776	Congenital diaphragmatic hernia
55869	HDAC8	HP:0000786	Primary amenorrhea
55869	HDAC8	HP:0003196	Short nose
55869	HDAC8	HP:0000823	Delayed puberty
55869	HDAC8	HP:0040071	Abnormal morphology of ulna
55869	HDAC8	HP:0040082	Happy demeanor
55869	HDAC8	HP:0010300	Abnormally low-pitched voice
55869	HDAC8	HP:0000965	Cutis marmorata
55869	HDAC8	HP:0000278	Retrognathia
55869	HDAC8	HP:0000294	Low anterior hairline
55869	HDAC8	HP:0002827	Hip dislocation
55869	HDAC8	HP:0000252	Microcephaly
55869	HDAC8	HP:0000248	Brachycephaly
55869	HDAC8	HP:0000219	Thin upper lip vermilion
55869	HDAC8	HP:0000218	High palate
55869	HDAC8	HP:0000233	Thin vermilion border
55869	HDAC8	HP:0001557	Prenatal movement abnormality
55869	HDAC8	HP:0001508	Failure to thrive
55869	HDAC8	HP:0001511	Intrauterine growth retardation
55869	HDAC8	HP:0000365	Hearing impairment
55869	HDAC8	HP:0000368	Low-set, posteriorly rotated ears
55869	HDAC8	HP:0000343	Long philtrum
55869	HDAC8	HP:0000336	Prominent supraorbital ridges
55869	HDAC8	HP:0000347	Micrognathia
55869	HDAC8	HP:0002983	Micromelia
55869	HDAC8	HP:0000316	Hypertelorism
55869	HDAC8	HP:0002974	Radioulnar synostosis
55869	HDAC8	HP:0001629	Ventricular septal defect
55869	HDAC8	HP:0001622	Premature birth
55869	HDAC8	HP:0001631	Atrial septal defect
55869	HDAC8	HP:0000498	Blepharitis
55869	HDAC8	HP:0000407	Sensorineural hearing impairment
55869	HDAC8	HP:0000405	Conductive hearing impairment
55869	HDAC8	HP:0000400	Macrotia
55869	HDAC8	HP:0005280	Depressed nasal bridge
55869	HDAC8	HP:0000486	Strabismus
55869	HDAC8	HP:0000482	Microcornea
55869	HDAC8	HP:0000490	Deeply set eye
55869	HDAC8	HP:0000463	Anteverted nares
55869	HDAC8	HP:0000455	Broad nasal tip
55869	HDAC8	HP:0000470	Short neck
55869	HDAC8	HP:0001770	Toe syndactyly
55869	HDAC8	HP:0001773	Short foot
55869	HDAC8	HP:0001763	Pes planus
55869	HDAC8	HP:0000453	Choanal atresia
55869	HDAC8	HP:0000413	Atresia of the external auditory canal
55869	HDAC8	HP:0001761	Pes cavus
55869	HDAC8	HP:0000426	Prominent nasal bridge
55869	HDAC8	HP:0000518	Cataract
55869	HDAC8	HP:0000527	Long eyelashes
55869	HDAC8	HP:0000506	Telecanthus
55869	HDAC8	HP:0000508	Ptosis
55869	HDAC8	HP:0000501	Glaucoma
55869	HDAC8	HP:0000574	Thick eyebrow
55869	HDAC8	HP:0000540	Hypermetropia
55869	HDAC8	HP:0001883	Talipes
55869	HDAC8	HP:0000545	Myopia
55870	ASH1L	HP:0001250	Seizure
55870	ASH1L	HP:0001252	Hypotonia
55870	ASH1L	HP:0001249	Intellectual disability
55870	ASH1L	HP:0001263	Global developmental delay
55870	ASH1L	HP:0001262	Excessive daytime somnolence
55870	ASH1L	HP:0008770	Obsessive-compulsive trait
55870	ASH1L	HP:0008689	Bilateral cryptorchidism
55870	ASH1L	HP:0000028	Cryptorchidism
55870	ASH1L	HP:0001344	Absent speech
55870	ASH1L	HP:0000006	Autosomal dominant inheritance
55870	ASH1L	HP:0000194	Open mouth
55870	ASH1L	HP:0008936	Axial hypotonia
55870	ASH1L	HP:0002714	Downturned corners of mouth
55870	ASH1L	HP:0004626	Lumbar scoliosis
55870	ASH1L	HP:0004602	Cervical C2/C3 vertebral fusion
55870	ASH1L	HP:0002188	Delayed CNS myelination
55870	ASH1L	HP:0011856	Pica
55870	ASH1L	HP:0003593	Infantile onset
55870	ASH1L	HP:0003577	Congenital onset
55870	ASH1L	HP:0010722	Asymmetry of the ears
55870	ASH1L	HP:0011968	Feeding difficulties
55870	ASH1L	HP:0002360	Sleep disturbance
55870	ASH1L	HP:0003691	Scapular winging
55870	ASH1L	HP:0000664	Synophrys
55870	ASH1L	HP:0000666	Horizontal nystagmus
55870	ASH1L	HP:0000752	Hyperactivity
55870	ASH1L	HP:0000768	Pectus carinatum
55870	ASH1L	HP:0000737	Irritability
55870	ASH1L	HP:0000739	Anxiety
55870	ASH1L	HP:0000750	Delayed speech and language development
55870	ASH1L	HP:0000729	Autistic behavior
55870	ASH1L	HP:0000821	Hypothyroidism
55870	ASH1L	HP:0008071	Maternal hypertension
55870	ASH1L	HP:0000294	Low anterior hairline
55870	ASH1L	HP:0000256	Macrocephaly
55870	ASH1L	HP:0000268	Dolichocephaly
55870	ASH1L	HP:0000252	Microcephaly
55870	ASH1L	HP:0000218	High palate
55870	ASH1L	HP:0025502	Overweight
55870	ASH1L	HP:0001518	Small for gestational age
55870	ASH1L	HP:0002938	Lumbar hyperlordosis
55870	ASH1L	HP:0000369	Low-set ears
55870	ASH1L	HP:0000319	Smooth philtrum
55870	ASH1L	HP:0000316	Hypertelorism
55870	ASH1L	HP:0000322	Short philtrum
55870	ASH1L	HP:0001623	Breech presentation
55870	ASH1L	HP:0006610	Wide intermamillary distance
55870	ASH1L	HP:0000407	Sensorineural hearing impairment
55870	ASH1L	HP:0005280	Depressed nasal bridge
55870	ASH1L	HP:0000483	Astigmatism
55870	ASH1L	HP:0000486	Strabismus
55870	ASH1L	HP:0000490	Deeply set eye
55870	ASH1L	HP:0000463	Anteverted nares
55870	ASH1L	HP:0012450	Chronic constipation
55870	ASH1L	HP:0000448	Prominent nose
55870	ASH1L	HP:0000444	Convex nasal ridge
55870	ASH1L	HP:0000426	Prominent nasal bridge
55870	ASH1L	HP:0000540	Hypermetropia
55898	UNC45A	HP:0410204	Increased intestinal transit time
55898	UNC45A	HP:0001263	Global developmental delay
55898	UNC45A	HP:0002572	Episodic vomiting
55898	UNC45A	HP:0000093	Proteinuria
55898	UNC45A	HP:0001396	Cholestasis
55898	UNC45A	HP:0001395	Hepatic fibrosis
55898	UNC45A	HP:0001385	Hip dysplasia
55898	UNC45A	HP:0033736	Grade II vesicoureteral reflux
55898	UNC45A	HP:0000007	Autosomal recessive inheritance
55898	UNC45A	HP:0002757	Recurrent fractures
55898	UNC45A	HP:0001414	Microvesicular hepatic steatosis
55898	UNC45A	HP:0002027	Abdominal pain
55898	UNC45A	HP:0002003	Large forehead
55898	UNC45A	HP:0002099	Asthma
55898	UNC45A	HP:0033309	Ileoileal intussusception
55898	UNC45A	HP:0001944	Dehydration
55898	UNC45A	HP:0001903	Anemia
55898	UNC45A	HP:0004349	Reduced bone mineral density
55898	UNC45A	HP:0011473	Villous atrophy
55898	UNC45A	HP:0005743	Avascular necrosis of the capital femoral epiphysis
55898	UNC45A	HP:0000989	Pruritus
55898	UNC45A	HP:0000238	Hydrocephalus
55898	UNC45A	HP:0012202	Increased serum bile acid concentration
55898	UNC45A	HP:0001508	Failure to thrive
55898	UNC45A	HP:0006580	Portal fibrosis
55898	UNC45A	HP:0006579	Prolonged neonatal jaundice
55898	UNC45A	HP:0005208	Secretory diarrhea
55898	UNC45A	HP:0002900	Hypokalemia
55898	UNC45A	HP:0000365	Hearing impairment
55898	UNC45A	HP:0001824	Weight loss
55898	UNC45A	HP:0000592	Blue sclerae
55898	UNC45A	HP:0012537	Food intolerance
55901	THSD1	HP:0001123	Visual field defect
55901	THSD1	HP:0001269	Hemiparesis
55901	THSD1	HP:0001250	Seizure
55901	THSD1	HP:0031056	Fusiform cerebral aneurysm
55901	THSD1	HP:0000006	Autosomal dominant inheritance
55901	THSD1	HP:0002647	Aortic dissection
55901	THSD1	HP:0002616	Aortic root aneurysm
55901	THSD1	HP:0002621	Atherosclerosis
55901	THSD1	HP:0012159	Internal carotid artery dissection
55901	THSD1	HP:0002138	Subarachnoid hemorrhage
55901	THSD1	HP:0002170	Intracranial hemorrhage
55901	THSD1	HP:0003596	Middle age onset
55901	THSD1	HP:0003584	Late onset
55901	THSD1	HP:0007029	Cerebral berry aneurysm
55901	THSD1	HP:0002363	Abnormal brainstem morphology
55901	THSD1	HP:0002326	Transient ischemic attack
55901	THSD1	HP:0000822	Hypertension
55901	THSD1	HP:0040197	Encephalomalacia
55901	THSD1	HP:0012246	Oculomotor nerve palsy
55901	THSD1	HP:0005313	Arterial fibromuscular dysplasia
55901	THSD1	HP:0012518	Abnormal circle of Willis morphology
55904	KMT2E	HP:0001182	Tapered finger
55904	KMT2E	HP:0001290	Generalized hypotonia
55904	KMT2E	HP:0001273	Abnormal corpus callosum morphology
55904	KMT2E	HP:0001250	Seizure
55904	KMT2E	HP:0001263	Global developmental delay
55904	KMT2E	HP:0002500	Abnormal cerebral white matter morphology
55904	KMT2E	HP:0000028	Cryptorchidism
55904	KMT2E	HP:0000006	Autosomal dominant inheritance
55904	KMT2E	HP:0012166	Skin-picking
55904	KMT2E	HP:0002013	Vomiting
55904	KMT2E	HP:0003593	Infantile onset
55904	KMT2E	HP:0100716	Self-injurious behavior
55904	KMT2E	HP:0200134	Epileptic encephalopathy
55904	KMT2E	HP:0011968	Feeding difficulties
55904	KMT2E	HP:0000629	Periorbital fullness
55904	KMT2E	HP:0001999	Abnormal facial shape
55904	KMT2E	HP:0031936	Delayed ability to walk
55904	KMT2E	HP:0000739	Anxiety
55904	KMT2E	HP:0000750	Delayed speech and language development
55904	KMT2E	HP:0000718	Aggressive behavior
55904	KMT2E	HP:0000293	Full cheeks
55904	KMT2E	HP:0000256	Macrocephaly
55904	KMT2E	HP:0000268	Dolichocephaly
55904	KMT2E	HP:0002808	Kyphosis
55904	KMT2E	HP:0006579	Prolonged neonatal jaundice
55904	KMT2E	HP:0000494	Downslanted palpebral fissures
55904	KMT2E	HP:0000490	Deeply set eye
55904	KMT2E	HP:0012448	Delayed myelination
55904	KMT2E	HP:0011220	Prominent forehead
55906	ZC4H2	HP:0002460	Distal muscle weakness
55906	ZC4H2	HP:0009890	High anterior hairline
55906	ZC4H2	HP:0001290	Generalized hypotonia
55906	ZC4H2	HP:0001284	Areflexia
55906	ZC4H2	HP:0001256	Intellectual disability, mild
55906	ZC4H2	HP:0001250	Seizure
55906	ZC4H2	HP:0001252	Hypotonia
55906	ZC4H2	HP:0001260	Dysarthria
55906	ZC4H2	HP:0001263	Global developmental delay
55906	ZC4H2	HP:0001257	Spasticity
55906	ZC4H2	HP:0002540	Inability to walk
55906	ZC4H2	HP:0001376	Limitation of joint mobility
55906	ZC4H2	HP:0001371	Flexion contracture
55906	ZC4H2	HP:0000020	Urinary incontinence
55906	ZC4H2	HP:0001347	Hyperreflexia
55906	ZC4H2	HP:0001332	Dystonia
55906	ZC4H2	HP:0001324	Muscle weakness
55906	ZC4H2	HP:0001344	Absent speech
55906	ZC4H2	HP:0002650	Scoliosis
55906	ZC4H2	HP:0002643	Neonatal respiratory distress
55906	ZC4H2	HP:0000187	Broad alveolar ridges
55906	ZC4H2	HP:0000175	Cleft palate
55906	ZC4H2	HP:0001423	X-linked dominant inheritance
55906	ZC4H2	HP:0001419	X-linked recessive inheritance
55906	ZC4H2	HP:0002714	Downturned corners of mouth
55906	ZC4H2	HP:0002015	Dysphagia
55906	ZC4H2	HP:0003307	Hyperlordosis
55906	ZC4H2	HP:0002059	Cerebral atrophy
55906	ZC4H2	HP:0009486	Radial deviation of the hand
55906	ZC4H2	HP:0002119	Ventriculomegaly
55906	ZC4H2	HP:0002104	Apnea
55906	ZC4H2	HP:0009623	Proximal placement of thumb
55906	ZC4H2	HP:0002188	Delayed CNS myelination
55906	ZC4H2	HP:0002186	Apraxia
55906	ZC4H2	HP:0002167	Abnormality of speech or vocalization
55906	ZC4H2	HP:0003577	Congenital onset
55906	ZC4H2	HP:0011968	Feeding difficulties
55906	ZC4H2	HP:0010628	Facial palsy
55906	ZC4H2	HP:0003693	Distal amyotrophy
55906	ZC4H2	HP:0010806	U-Shaped upper lip vermilion
55906	ZC4H2	HP:0010765	Palmar hyperkeratosis
55906	ZC4H2	HP:0002307	Drooling
55906	ZC4H2	HP:0004209	Clinodactyly of the 5th finger
55906	ZC4H2	HP:0000657	Oculomotor apraxia
55906	ZC4H2	HP:0001989	Fetal akinesia sequence
55906	ZC4H2	HP:0004322	Short stature
55906	ZC4H2	HP:0031936	Delayed ability to walk
55906	ZC4H2	HP:0100022	Abnormality of movement
55906	ZC4H2	HP:0000750	Delayed speech and language development
55906	ZC4H2	HP:0000774	Narrow chest
55906	ZC4H2	HP:0005745	Congenital foot contractures
55906	ZC4H2	HP:0003273	Hip contracture
55906	ZC4H2	HP:0000278	Retrognathia
55906	ZC4H2	HP:0006467	Limited shoulder movement
55906	ZC4H2	HP:0002827	Hip dislocation
55906	ZC4H2	HP:0002808	Kyphosis
55906	ZC4H2	HP:0002804	Arthrogryposis multiplex congenita
55906	ZC4H2	HP:0000252	Microcephaly
55906	ZC4H2	HP:0000248	Brachycephaly
55906	ZC4H2	HP:0000218	High palate
55906	ZC4H2	HP:0001561	Polyhydramnios
55906	ZC4H2	HP:0001558	Decreased fetal movement
55906	ZC4H2	HP:0012385	Camptodactyly
55906	ZC4H2	HP:0000358	Posteriorly rotated ears
55906	ZC4H2	HP:0000369	Low-set ears
55906	ZC4H2	HP:0000343	Long philtrum
55906	ZC4H2	HP:0000348	High forehead
55906	ZC4H2	HP:0000347	Micrognathia
55906	ZC4H2	HP:0000319	Smooth philtrum
55906	ZC4H2	HP:0000308	Microretrognathia
55906	ZC4H2	HP:0006610	Wide intermamillary distance
55906	ZC4H2	HP:0030319	Weakness of facial musculature
55906	ZC4H2	HP:0000486	Strabismus
55906	ZC4H2	HP:0000496	Abnormality of eye movement
55906	ZC4H2	HP:0000490	Deeply set eye
55906	ZC4H2	HP:0000463	Anteverted nares
55906	ZC4H2	HP:0012448	Delayed myelination
55906	ZC4H2	HP:0012444	Brain atrophy
55906	ZC4H2	HP:0000470	Short neck
55906	ZC4H2	HP:0001771	Achilles tendon contracture
55906	ZC4H2	HP:0001762	Talipes equinovarus
55906	ZC4H2	HP:0001838	Rocker bottom foot
55906	ZC4H2	HP:0000508	Ptosis
55906	ZC4H2	HP:0000582	Upslanted palpebral fissure
55906	ZC4H2	HP:0000577	Exotropia
55906	ZC4H2	HP:0000540	Hypermetropia
55958	KLHL9	HP:0002505	Loss of ambulation
55958	KLHL9	HP:0008954	Intrinsic hand muscle atrophy
55958	KLHL9	HP:0001430	Abnormality of the calf musculature
55958	KLHL9	HP:0003376	Steppage gait
55958	KLHL9	HP:0003477	Peripheral axonal neuropathy
55958	KLHL9	HP:0003458	EMG: myopathic abnormalities
55958	KLHL9	HP:0003438	Absent Achilles reflex
55958	KLHL9	HP:0002166	Impaired vibration sensation in the lower limbs
55958	KLHL9	HP:0002355	Difficulty walking
55958	KLHL9	HP:0006844	Absent patellar reflexes
55958	KLHL9	HP:0009063	Progressive distal muscle weakness
55958	KLHL9	HP:0009031	Amyotrophy of ankle musculature
55958	KLHL9	HP:0009005	Weakness of the intrinsic hand muscles
55958	KLHL9	HP:0006937	Impaired distal tactile sensation
55958	KLHL9	HP:0040081	Abnormal circulating creatine kinase concentration
55958	KLHL9	HP:0006466	Ankle flexion contracture
55958	KLHL9	HP:0002936	Distal sensory impairment
55967	NDUFA12	HP:0002490	Increased CSF lactate
55967	NDUFA12	HP:0010864	Intellectual disability, severe
55967	NDUFA12	HP:0002415	Leukodystrophy
55967	NDUFA12	HP:0001290	Generalized hypotonia
55967	NDUFA12	HP:0001270	Motor delay
55967	NDUFA12	HP:0001250	Seizure
55967	NDUFA12	HP:0001252	Hypotonia
55967	NDUFA12	HP:0001260	Dysarthria
55967	NDUFA12	HP:0001263	Global developmental delay
55967	NDUFA12	HP:0001257	Spasticity
55967	NDUFA12	HP:0001347	Hyperreflexia
55967	NDUFA12	HP:0001332	Dystonia
55967	NDUFA12	HP:0000007	Autosomal recessive inheritance
55967	NDUFA12	HP:0002650	Scoliosis
55967	NDUFA12	HP:0008972	Decreased activity of mitochondrial respiratory chain
55967	NDUFA12	HP:0002073	Progressive cerebellar ataxia
55967	NDUFA12	HP:0002151	Increased serum lactate
55967	NDUFA12	HP:0002104	Apnea
55967	NDUFA12	HP:0011923	Decreased activity of mitochondrial complex I
55967	NDUFA12	HP:0003593	Infantile onset
55967	NDUFA12	HP:0007020	Progressive spastic paraplegia
55967	NDUFA12	HP:0003676	Progressive
55967	NDUFA12	HP:0009830	Peripheral neuropathy
55967	NDUFA12	HP:0007183	Focal T2 hyperintense basal ganglia lesion
55967	NDUFA12	HP:0000639	Nystagmus
55967	NDUFA12	HP:0000648	Optic atrophy
55967	NDUFA12	HP:0001941	Acidosis
55967	NDUFA12	HP:0000602	Ophthalmoplegia
55967	NDUFA12	HP:0001903	Anemia
55967	NDUFA12	HP:0031936	Delayed ability to walk
55967	NDUFA12	HP:0100022	Abnormality of movement
55967	NDUFA12	HP:0000712	Emotional lability
55967	NDUFA12	HP:0003202	Skeletal muscle atrophy
55967	NDUFA12	HP:0000998	Hypertrichosis
55967	NDUFA12	HP:0001508	Failure to thrive
55967	NDUFA12	HP:0001510	Growth delay
55967	NDUFA12	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
55967	NDUFA12	HP:0000365	Hearing impairment
55967	NDUFA12	HP:0001629	Ventricular septal defect
55967	NDUFA12	HP:0001639	Hypertrophic cardiomyopathy
55967	NDUFA12	HP:0000486	Strabismus
55967	NDUFA12	HP:0000508	Ptosis
55967	NDUFA12	HP:0000580	Pigmentary retinopathy
55969	RAB5IF	HP:0010864	Intellectual disability, severe
55969	RAB5IF	HP:0001344	Absent speech
55969	RAB5IF	HP:0000007	Autosomal recessive inheritance
55969	RAB5IF	HP:0002389	Cavum septum pellucidum
55969	RAB5IF	HP:0000767	Pectus excavatum
55969	RAB5IF	HP:0000914	Shield chest
55969	RAB5IF	HP:0100336	Bilateral cleft lip
55969	RAB5IF	HP:0012368	Flat face
55969	RAB5IF	HP:0002943	Thoracic scoliosis
55969	RAB5IF	HP:0000369	Low-set ears
55969	RAB5IF	HP:0000470	Short neck
55975	KLHL7	HP:0001249	Intellectual disability
55975	KLHL7	HP:0008736	Hypoplasia of penis
55975	KLHL7	HP:0025278	Cold-induced sweating
55975	KLHL7	HP:0001347	Hyperreflexia
55975	KLHL7	HP:0000035	Abnormal testis morphology
55975	KLHL7	HP:0000007	Autosomal recessive inheritance
55975	KLHL7	HP:0000006	Autosomal dominant inheritance
55975	KLHL7	HP:0002650	Scoliosis
55975	KLHL7	HP:0000135	Hypogonadism
55975	KLHL7	HP:0007675	Progressive night blindness
55975	KLHL7	HP:0007663	Reduced visual acuity
55975	KLHL7	HP:0500087	Peripapillary atrophy
55975	KLHL7	HP:0002015	Dysphagia
55975	KLHL7	HP:0005978	Type II diabetes mellitus
55975	KLHL7	HP:0002098	Respiratory distress
55975	KLHL7	HP:0003596	Middle age onset
55975	KLHL7	HP:0003593	Infantile onset
55975	KLHL7	HP:0011968	Feeding difficulties
55975	KLHL7	HP:0000639	Nystagmus
55975	KLHL7	HP:0000648	Optic atrophy
55975	KLHL7	HP:0000618	Blindness
55975	KLHL7	HP:0000613	Photophobia
55975	KLHL7	HP:0001945	Fever
55975	KLHL7	HP:0000602	Ophthalmoplegia
55975	KLHL7	HP:0030629	Perifoveal ring of hyperautofluorescence
55975	KLHL7	HP:0011462	Young adult onset
55975	KLHL7	HP:0011505	Cystoid macular edema
55975	KLHL7	HP:0000842	Hyperinsulinemia
55975	KLHL7	HP:0034392	Joint contracture
55975	KLHL7	HP:0000987	Atypical scarring of skin
55975	KLHL7	HP:0000961	Cyanosis
55975	KLHL7	HP:0008046	Abnormal retinal vascular morphology
55975	KLHL7	HP:0007703	Abnormality of retinal pigmentation
55975	KLHL7	HP:0000293	Full cheeks
55975	KLHL7	HP:0000218	High palate
55975	KLHL7	HP:0001513	Obesity
55975	KLHL7	HP:0012385	Camptodactyly
55975	KLHL7	HP:0000407	Sensorineural hearing impairment
55975	KLHL7	HP:0000405	Conductive hearing impairment
55975	KLHL7	HP:0005280	Depressed nasal bridge
55975	KLHL7	HP:0000463	Anteverted nares
55975	KLHL7	HP:0000431	Wide nasal bridge
55975	KLHL7	HP:0000518	Cataract
55975	KLHL7	HP:0000510	Rod-cone dystrophy
55975	KLHL7	HP:0000512	Abnormal electroretinogram
55975	KLHL7	HP:0000505	Visual impairment
55975	KLHL7	HP:0000501	Glaucoma
55975	KLHL7	HP:0000563	Keratoconus
55997	CFC1	HP:0001274	Agenesis of corpus callosum
55997	CFC1	HP:0002566	Intestinal malrotation
55997	CFC1	HP:0003829	Typified by incomplete penetrance
55997	CFC1	HP:0000006	Autosomal dominant inheritance
55997	CFC1	HP:0003363	Abdominal situs inversus
55997	CFC1	HP:0003577	Congenital onset
55997	CFC1	HP:0033379	Bilateral superior vena cava
55997	CFC1	HP:0011537	Left atrial isomerism
55997	CFC1	HP:0011599	Mesocardia
55997	CFC1	HP:0000252	Microcephaly
55997	CFC1	HP:0001696	Situs inversus totalis
55997	CFC1	HP:0001669	Transposition of the great arteries
55997	CFC1	HP:0001651	Dextrocardia
55997	CFC1	HP:0006695	Atrioventricular canal defect
55997	CFC1	HP:0001719	Double outlet right ventricle
55997	CFC1	HP:0001746	Asplenia
55997	CFC1	HP:0001748	Polysplenia
56006	SMG9	HP:0001188	Hand clenching
56006	SMG9	HP:0001156	Brachydactyly
56006	SMG9	HP:0009907	Attached earlobe
56006	SMG9	HP:0001250	Seizure
56006	SMG9	HP:0001252	Hypotonia
56006	SMG9	HP:0001249	Intellectual disability
56006	SMG9	HP:0001263	Global developmental delay
56006	SMG9	HP:0002509	Limb hypertonia
56006	SMG9	HP:0001348	Brisk reflexes
56006	SMG9	HP:0000007	Autosomal recessive inheritance
56006	SMG9	HP:0001305	Dandy-Walker malformation
56006	SMG9	HP:0001320	Cerebellar vermis hypoplasia
56006	SMG9	HP:0002650	Scoliosis
56006	SMG9	HP:0000179	Thick lower lip vermilion
56006	SMG9	HP:0410030	Cleft lip
56006	SMG9	HP:0008936	Axial hypotonia
56006	SMG9	HP:0002705	High, narrow palate
56006	SMG9	HP:0002020	Gastroesophageal reflux
56006	SMG9	HP:0002080	Intention tremor
56006	SMG9	HP:0002079	Hypoplasia of the corpus callosum
56006	SMG9	HP:0002059	Cerebral atrophy
56006	SMG9	HP:0002188	Delayed CNS myelination
56006	SMG9	HP:0100490	Camptodactyly of finger
56006	SMG9	HP:0003593	Infantile onset
56006	SMG9	HP:0003577	Congenital onset
56006	SMG9	HP:0002283	Global brain atrophy
56006	SMG9	HP:0002359	Frequent falls
56006	SMG9	HP:0010763	Low insertion of columella
56006	SMG9	HP:0006801	Hyperactive deep tendon reflexes
56006	SMG9	HP:0006895	Lower limb hypertonia
56006	SMG9	HP:0004322	Short stature
56006	SMG9	HP:0006956	Lateral ventricle dilatation
56006	SMG9	HP:0000750	Delayed speech and language development
56006	SMG9	HP:0011448	Ankle clonus
56006	SMG9	HP:0003189	Long nose
56006	SMG9	HP:0011611	Interrupted aortic arch
56006	SMG9	HP:0000960	Sacral dimple
56006	SMG9	HP:0008081	Pes valgus
56006	SMG9	HP:0000260	Wide anterior fontanel
56006	SMG9	HP:0000269	Prominent occiput
56006	SMG9	HP:0000252	Microcephaly
56006	SMG9	HP:0000248	Brachycephaly
56006	SMG9	HP:0000218	High palate
56006	SMG9	HP:0001561	Polyhydramnios
56006	SMG9	HP:0000232	Everted lower lip vermilion
56006	SMG9	HP:0031348	Dextrotransposition of the great arteries
56006	SMG9	HP:0001510	Growth delay
56006	SMG9	HP:0000358	Posteriorly rotated ears
56006	SMG9	HP:0000369	Low-set ears
56006	SMG9	HP:0000341	Narrow forehead
56006	SMG9	HP:0000316	Hypertelorism
56006	SMG9	HP:0001629	Ventricular septal defect
56006	SMG9	HP:0000403	Recurrent otitis media
56006	SMG9	HP:0005280	Depressed nasal bridge
56006	SMG9	HP:0000486	Strabismus
56006	SMG9	HP:0000463	Anteverted nares
56006	SMG9	HP:0012444	Brain atrophy
56006	SMG9	HP:0000455	Broad nasal tip
56006	SMG9	HP:0000445	Wide nose
56006	SMG9	HP:0000431	Wide nasal bridge
56006	SMG9	HP:0005487	Prominent metopic ridge
56006	SMG9	HP:0000505	Visual impairment
56006	SMG9	HP:0011220	Prominent forehead
56006	SMG9	HP:0000568	Microphthalmia
56052	ALG1	HP:0001290	Generalized hypotonia
56052	ALG1	HP:0100806	Sepsis
56052	ALG1	HP:0001272	Cerebellar atrophy
56052	ALG1	HP:0001284	Areflexia
56052	ALG1	HP:0001256	Intellectual disability, mild
56052	ALG1	HP:0001250	Seizure
56052	ALG1	HP:0001252	Hypotonia
56052	ALG1	HP:0001249	Intellectual disability
56052	ALG1	HP:0001263	Global developmental delay
56052	ALG1	HP:0410263	Brain imaging abnormality
56052	ALG1	HP:0000083	Renal insufficiency
56052	ALG1	HP:0000077	Abnormality of the kidney
56052	ALG1	HP:0001376	Limitation of joint mobility
56052	ALG1	HP:0001371	Flexion contracture
56052	ALG1	HP:0000007	Autosomal recessive inheritance
56052	ALG1	HP:0002650	Scoliosis
56052	ALG1	HP:0000135	Hypogonadism
56052	ALG1	HP:0000100	Nephrotic syndrome
56052	ALG1	HP:0001410	Decreased liver function
56052	ALG1	HP:0002719	Recurrent infections
56052	ALG1	HP:0002721	Immunodeficiency
56052	ALG1	HP:0002028	Chronic diarrhea
56052	ALG1	HP:0002059	Cerebral atrophy
56052	ALG1	HP:0002243	Protein-losing enteropathy
56052	ALG1	HP:0002240	Hepatomegaly
56052	ALG1	HP:0010841	Multifocal epileptiform discharges
56052	ALG1	HP:0003642	Type I transferrin isoform profile
56052	ALG1	HP:0000639	Nystagmus
56052	ALG1	HP:0011344	Severe global developmental delay
56052	ALG1	HP:0001999	Abnormal facial shape
56052	ALG1	HP:0003073	Hypoalbuminemia
56052	ALG1	HP:0034197	Third trimester onset
56052	ALG1	HP:0000924	Abnormality of the skeletal system
56052	ALG1	HP:0034392	Joint contracture
56052	ALG1	HP:0002808	Kyphosis
56052	ALG1	HP:0000239	Large fontanelles
56052	ALG1	HP:0000253	Progressive microcephaly
56052	ALG1	HP:0000252	Microcephaly
56052	ALG1	HP:0002878	Respiratory failure
56052	ALG1	HP:0000233	Thin vermilion border
56052	ALG1	HP:0001560	Abnormality of the amniotic fluid
56052	ALG1	HP:0001522	Death in infancy
56052	ALG1	HP:0001511	Intrauterine growth retardation
56052	ALG1	HP:0011024	Abnormality of the gastrointestinal tract
56052	ALG1	HP:0000347	Micrognathia
56052	ALG1	HP:0000316	Hypertelorism
56052	ALG1	HP:0001627	Abnormal heart morphology
56052	ALG1	HP:0001638	Cardiomyopathy
56052	ALG1	HP:0000486	Strabismus
56052	ALG1	HP:0000478	Abnormality of the eye
56052	ALG1	HP:0001790	Nonimmune hydrops fetalis
56052	ALG1	HP:0001744	Splenomegaly
56052	ALG1	HP:0001871	Abnormality of blood and blood-forming tissues
56098	PCDHGC4	HP:0001250	Seizure
56098	PCDHGC4	HP:0001252	Hypotonia
56098	PCDHGC4	HP:0001249	Intellectual disability
56098	PCDHGC4	HP:0006055	Ulnar deviated club hands
56098	PCDHGC4	HP:0006150	Swan neck-like deformities of the fingers
56098	PCDHGC4	HP:0000006	Autosomal dominant inheritance
56098	PCDHGC4	HP:0002705	High, narrow palate
56098	PCDHGC4	HP:0002120	Cerebral cortical atrophy
56098	PCDHGC4	HP:0003593	Infantile onset
56098	PCDHGC4	HP:0003577	Congenital onset
56098	PCDHGC4	HP:0009765	Low hanging columella
56098	PCDHGC4	HP:0003623	Neonatal onset
56098	PCDHGC4	HP:0011330	Metopic synostosis
56098	PCDHGC4	HP:0011304	Broad thumb
56098	PCDHGC4	HP:0000664	Synophrys
56098	PCDHGC4	HP:0000286	Epicanthus
56098	PCDHGC4	HP:0000276	Long face
56098	PCDHGC4	HP:0000268	Dolichocephaly
56098	PCDHGC4	HP:0030084	Clinodactyly
56098	PCDHGC4	HP:0000252	Microcephaly
56098	PCDHGC4	HP:0000232	Everted lower lip vermilion
56098	PCDHGC4	HP:0000369	Low-set ears
56098	PCDHGC4	HP:0000340	Sloping forehead
56098	PCDHGC4	HP:0000343	Long philtrum
56098	PCDHGC4	HP:0000322	Short philtrum
56098	PCDHGC4	HP:0000303	Mandibular prognathia
56098	PCDHGC4	HP:0000486	Strabismus
56098	PCDHGC4	HP:0012471	Thick vermilion border
56098	PCDHGC4	HP:0000426	Prominent nasal bridge
56098	PCDHGC4	HP:0001822	Hallux valgus
56098	PCDHGC4	HP:0000582	Upslanted palpebral fissure
56098	PCDHGC4	HP:0000577	Exotropia
56098	PCDHGC4	HP:0000565	Esotropia
56154	TEX15	HP:0008734	Decreased testicular size
56154	TEX15	HP:0031039	Early spermatogenesis maturation arrest
56154	TEX15	HP:0008669	Abnormal spermatogenesis
56154	TEX15	HP:0000027	Azoospermia
56154	TEX15	HP:0000007	Autosomal recessive inheritance
56154	TEX15	HP:0000118	Phenotypic abnormality
56154	TEX15	HP:0030974	Cryptozoospermia
56154	TEX15	HP:0011961	Non-obstructive azoospermia
56154	TEX15	HP:0011962	Obstructive azoospermia
56154	TEX15	HP:0011462	Young adult onset
56154	TEX15	HP:0000837	Increased circulating gonadotropin level
56154	TEX15	HP:0003251	Male infertility
56155	TEX14	HP:0008734	Decreased testicular size
56155	TEX14	HP:0008669	Abnormal spermatogenesis
56155	TEX14	HP:0000027	Azoospermia
56155	TEX14	HP:0000007	Autosomal recessive inheritance
56155	TEX14	HP:0000118	Phenotypic abnormality
56155	TEX14	HP:0011961	Non-obstructive azoospermia
56155	TEX14	HP:0011962	Obstructive azoospermia
56155	TEX14	HP:0011462	Young adult onset
56155	TEX14	HP:0000837	Increased circulating gonadotropin level
56155	TEX14	HP:0003251	Male infertility
56159	TEX11	HP:0008734	Decreased testicular size
56159	TEX11	HP:0031038	Spermatogenesis maturation arrest
56159	TEX11	HP:0008669	Abnormal spermatogenesis
56159	TEX11	HP:0000029	Testicular atrophy
56159	TEX11	HP:0000027	Azoospermia
56159	TEX11	HP:0000118	Phenotypic abnormality
56159	TEX11	HP:0001419	X-linked recessive inheritance
56159	TEX11	HP:0011961	Non-obstructive azoospermia
56159	TEX11	HP:0011962	Obstructive azoospermia
56159	TEX11	HP:0011462	Young adult onset
56159	TEX11	HP:0000837	Increased circulating gonadotropin level
56159	TEX11	HP:0003251	Male infertility
56160	NSMCE3	HP:0002514	Cerebral calcification
56160	NSMCE3	HP:0000007	Autosomal recessive inheritance
56160	NSMCE3	HP:0008936	Axial hypotonia
56160	NSMCE3	HP:0011800	Midface retrusion
56160	NSMCE3	HP:0003496	Increased circulating IgM level
56160	NSMCE3	HP:0011968	Feeding difficulties
56160	NSMCE3	HP:0011946	Bronchiolitis obliterans
56160	NSMCE3	HP:0011342	Mild global developmental delay
56160	NSMCE3	HP:0000778	Hypoplasia of the thymus
56160	NSMCE3	HP:0003212	Increased circulating IgE level
56160	NSMCE3	HP:0000964	Eczema
56160	NSMCE3	HP:0000260	Wide anterior fontanel
56160	NSMCE3	HP:0031402	Reduced antigen-specific T cell proliferation
56160	NSMCE3	HP:0001531	Failure to thrive in infancy
56160	NSMCE3	HP:0001518	Small for gestational age
56160	NSMCE3	HP:0000316	Hypertelorism
56160	NSMCE3	HP:0002972	Reduced delayed hypersensitivity
56160	NSMCE3	HP:0005280	Depressed nasal bridge
56160	NSMCE3	HP:0011133	Increased sensitivity to ionizing radiation
56160	NSMCE3	HP:0005407	Decreased proportion of CD4-positive helper T cells
56160	NSMCE3	HP:0005415	Decreased proportion of CD8-positive T cells
56172	ANKH	HP:0001291	Abnormal cranial nerve morphology
56172	ANKH	HP:0001250	Seizure
56172	ANKH	HP:0001376	Limitation of joint mobility
56172	ANKH	HP:0001373	Joint dislocation
56172	ANKH	HP:0001369	Arthritis
56172	ANKH	HP:0001386	Joint swelling
56172	ANKH	HP:0002694	Sclerosis of skull base
56172	ANKH	HP:0000006	Autosomal dominant inheritance
56172	ANKH	HP:0002652	Skeletal dysplasia
56172	ANKH	HP:0002644	Abnormal pelvic girdle bone morphology
56172	ANKH	HP:0005017	Polyarticular chondrocalcinosis
56172	ANKH	HP:0002758	Osteoarthritis
56172	ANKH	HP:0100593	Calcification of cartilage
56172	ANKH	HP:0003577	Congenital onset
56172	ANKH	HP:0003581	Adult onset
56172	ANKH	HP:0010628	Facial palsy
56172	ANKH	HP:0004975	Erlenmeyer flask deformity of the femurs
56172	ANKH	HP:0000678	Dental crowding
56172	ANKH	HP:0000692	Tooth malposition
56172	ANKH	HP:0004322	Short stature
56172	ANKH	HP:0003040	Arthropathy
56172	ANKH	HP:0003015	Flared metaphysis
56172	ANKH	HP:0003016	Metaphyseal widening
56172	ANKH	HP:0011463	Childhood onset
56172	ANKH	HP:0004437	Cranial hyperostosis
56172	ANKH	HP:0004407	Bony paranasal bossing
56172	ANKH	HP:0000925	Abnormality of the vertebral column
56172	ANKH	HP:0004493	Craniofacial hyperostosis
56172	ANKH	HP:0000934	Chondrocalcinosis
56172	ANKH	HP:0000944	Abnormal metaphysis morphology
56172	ANKH	HP:0000256	Macrocephaly
56172	ANKH	HP:0005108	Abnormal intervertebral disk morphology
56172	ANKH	HP:0002829	Arthralgia
56172	ANKH	HP:0006384	Club-shaped distal femur
56172	ANKH	HP:0011002	Osteopetrosis
56172	ANKH	HP:0000316	Hypertelorism
56172	ANKH	HP:0000303	Mandibular prognathia
56172	ANKH	HP:0000407	Sensorineural hearing impairment
56172	ANKH	HP:0000405	Conductive hearing impairment
56172	ANKH	HP:0005280	Depressed nasal bridge
56172	ANKH	HP:0001742	Nasal congestion
56172	ANKH	HP:0000410	Mixed hearing impairment
56172	ANKH	HP:0000431	Wide nasal bridge
56172	ANKH	HP:0005450	Calvarial osteosclerosis
56172	ANKH	HP:0000506	Telecanthus
56172	ANKH	HP:0000505	Visual impairment
56203	LMOD3	HP:0001181	Adducted thumb
56203	LMOD3	HP:0003798	Nemaline bodies
56203	LMOD3	HP:0003722	Neck flexor weakness
56203	LMOD3	HP:0001290	Generalized hypotonia
56203	LMOD3	HP:0001270	Motor delay
56203	LMOD3	HP:0001288	Gait disturbance
56203	LMOD3	HP:0001283	Bulbar palsy
56203	LMOD3	HP:0001265	Hyporeflexia
56203	LMOD3	HP:0002515	Waddling gait
56203	LMOD3	HP:0003803	Type 1 muscle fiber predominance
56203	LMOD3	HP:0003811	Neonatal death
56203	LMOD3	HP:0001371	Flexion contracture
56203	LMOD3	HP:0000054	Micropenis
56203	LMOD3	HP:0000047	Hypospadias
56203	LMOD3	HP:0001349	Facial diplegia
56203	LMOD3	HP:0007514	Edema of the dorsum of hands
56203	LMOD3	HP:0001324	Muscle weakness
56203	LMOD3	HP:0000007	Autosomal recessive inheritance
56203	LMOD3	HP:0002650	Scoliosis
56203	LMOD3	HP:0001319	Neonatal hypotonia
56203	LMOD3	HP:0002747	Respiratory insufficiency due to muscle weakness
56203	LMOD3	HP:0003327	Axial muscle weakness
56203	LMOD3	HP:0003325	Limb-girdle muscle weakness
56203	LMOD3	HP:0002015	Dysphagia
56203	LMOD3	HP:0003307	Hyperlordosis
56203	LMOD3	HP:0003306	Spinal rigidity
56203	LMOD3	HP:0003324	Generalized muscle weakness
56203	LMOD3	HP:0002089	Pulmonary hypoplasia
56203	LMOD3	HP:0002093	Respiratory insufficiency
56203	LMOD3	HP:0003577	Congenital onset
56203	LMOD3	HP:0003557	Increased variability in muscle fiber diameter
56203	LMOD3	HP:0011968	Feeding difficulties
56203	LMOD3	HP:0010628	Facial palsy
56203	LMOD3	HP:0002375	Hypokinesia
56203	LMOD3	HP:0006829	Severe muscular hypotonia
56203	LMOD3	HP:0000602	Ophthalmoplegia
56203	LMOD3	HP:0009025	Increased connective tissue
56203	LMOD3	HP:0009027	Foot dorsiflexor weakness
56203	LMOD3	HP:0000767	Pectus excavatum
56203	LMOD3	HP:0000765	Abnormal thorax morphology
56203	LMOD3	HP:0000774	Narrow chest
56203	LMOD3	HP:0000775	Abnormality of the diaphragm
56203	LMOD3	HP:0003198	Myopathy
56203	LMOD3	HP:0000883	Thin ribs
56203	LMOD3	HP:0003236	Elevated circulating creatine kinase concentration
56203	LMOD3	HP:0003202	Skeletal muscle atrophy
56203	LMOD3	HP:0005855	Multiple prenatal fractures
56203	LMOD3	HP:0000275	Narrow face
56203	LMOD3	HP:0002827	Hip dislocation
56203	LMOD3	HP:0002808	Kyphosis
56203	LMOD3	HP:0002803	Congenital contracture
56203	LMOD3	HP:0002804	Arthrogryposis multiplex congenita
56203	LMOD3	HP:0000239	Large fontanelles
56203	LMOD3	HP:0002878	Respiratory failure
56203	LMOD3	HP:0000218	High palate
56203	LMOD3	HP:0002877	Nocturnal hypoventilation
56203	LMOD3	HP:0001561	Polyhydramnios
56203	LMOD3	HP:0001558	Decreased fetal movement
56203	LMOD3	HP:0002857	Genu valgum
56203	LMOD3	HP:0001522	Death in infancy
56203	LMOD3	HP:0030200	Fatiguable weakness of proximal limb muscles
56203	LMOD3	HP:0030196	Fatigable weakness of respiratory muscles
56203	LMOD3	HP:0030198	Fatigable weakness of distal limb muscles
56203	LMOD3	HP:0000369	Low-set ears
56203	LMOD3	HP:0000347	Micrognathia
56203	LMOD3	HP:0001623	Breech presentation
56203	LMOD3	HP:0001622	Premature birth
56203	LMOD3	HP:0002970	Genu varum
56203	LMOD3	HP:0000470	Short neck
56203	LMOD3	HP:0000508	Ptosis
56203	LMOD3	HP:0012548	Fatty replacement of skeletal muscle
56244	BTNL2	HP:0003701	Proximal muscle weakness
56244	BTNL2	HP:0100828	Increased T cell count
56244	BTNL2	HP:0001217	Clubbing
56244	BTNL2	HP:0000083	Renal insufficiency
56244	BTNL2	HP:0012062	Bone cyst
56244	BTNL2	HP:0001399	Hepatic failure
56244	BTNL2	HP:0001386	Joint swelling
56244	BTNL2	HP:0000006	Autosomal dominant inheritance
56244	BTNL2	HP:0001482	Subcutaneous nodule
56244	BTNL2	HP:0000121	Nephrocalcinosis
56244	BTNL2	HP:0002781	Upper airway obstruction
56244	BTNL2	HP:0001410	Decreased liver function
56244	BTNL2	HP:0001409	Portal hypertension
56244	BTNL2	HP:0002733	Abnormal lymph node morphology
56244	BTNL2	HP:0002716	Lymphadenopathy
56244	BTNL2	HP:0011801	Enlargement of parotid gland
56244	BTNL2	HP:0002088	Abnormal lung morphology
56244	BTNL2	HP:0002097	Emphysema
56244	BTNL2	HP:0002094	Dyspnea
56244	BTNL2	HP:0002092	Pulmonary arterial hypertension
56244	BTNL2	HP:0002091	Restrictive ventilatory defect
56244	BTNL2	HP:0002045	Hypothermia
56244	BTNL2	HP:0002150	Hypercalciuria
56244	BTNL2	HP:0002103	Abnormal pleura morphology
56244	BTNL2	HP:0004756	Ventricular tachycardia
56244	BTNL2	HP:0002113	Pulmonary infiltrates
56244	BTNL2	HP:0002110	Bronchiectasis
56244	BTNL2	HP:0002107	Pneumothorax
56244	BTNL2	HP:0002105	Hemoptysis
56244	BTNL2	HP:0011850	Parotitis
56244	BTNL2	HP:0002240	Hepatomegaly
56244	BTNL2	HP:0003581	Adult onset
56244	BTNL2	HP:0002202	Pleural effusion
56244	BTNL2	HP:0002206	Pulmonary fibrosis
56244	BTNL2	HP:0100721	Mediastinal lymphadenopathy
56244	BTNL2	HP:0100749	Chest pain
56244	BTNL2	HP:0010628	Facial palsy
56244	BTNL2	HP:0001010	Hypopigmentation of the skin
56244	BTNL2	HP:0200036	Skin nodule
56244	BTNL2	HP:0200035	Skin plaque
56244	BTNL2	HP:0009830	Peripheral neuropathy
56244	BTNL2	HP:0001097	Keratoconjunctivitis sicca
56244	BTNL2	HP:0100699	Scarring
56244	BTNL2	HP:0001970	Tubulointerstitial nephritis
56244	BTNL2	HP:0000618	Blindness
56244	BTNL2	HP:0001945	Fever
56244	BTNL2	HP:0000620	Dacryocystitis
56244	BTNL2	HP:0001903	Anemia
56244	BTNL2	HP:0003072	Hypercalcemia
56244	BTNL2	HP:0003011	Abnormality of the musculature
56244	BTNL2	HP:0012735	Cough
56244	BTNL2	HP:0012722	Heart block
56244	BTNL2	HP:0000787	Nephrolithiasis
56244	BTNL2	HP:0000873	Diabetes insipidus
56244	BTNL2	HP:0000836	Hyperthyroidism
56244	BTNL2	HP:0000834	Abnormality of the adrenal glands
56244	BTNL2	HP:0000821	Hypothyroidism
56244	BTNL2	HP:0030872	Abnormal cardiac ventricular function
56244	BTNL2	HP:0010310	Chylothorax
56244	BTNL2	HP:0000953	Hyperpigmentation of the skin
56244	BTNL2	HP:0040186	Maculopapular exanthema
56244	BTNL2	HP:0011675	Arrhythmia
56244	BTNL2	HP:0001596	Alopecia
56244	BTNL2	HP:0012243	Abnormal reproductive system morphology
56244	BTNL2	HP:0007734	Enlarged lacrimal glands
56244	BTNL2	HP:0012219	Erythema nodosum
56244	BTNL2	HP:0012378	Fatigue
56244	BTNL2	HP:0006530	Abnormal pulmonary interstitial morphology
56244	BTNL2	HP:0002922	Increased CSF protein concentration
56244	BTNL2	HP:0002921	Abnormal cerebrospinal fluid morphology
56244	BTNL2	HP:0011024	Abnormality of the gastrointestinal tract
56244	BTNL2	HP:0030146	Abnormal liver parenchyma morphology
56244	BTNL2	HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion
56244	BTNL2	HP:0011121	Abnormality of skin morphology
56244	BTNL2	HP:0000433	Abnormal nasal mucosa morphology
56244	BTNL2	HP:0012418	Hypoxemia
56244	BTNL2	HP:0001744	Splenomegaly
56244	BTNL2	HP:0000518	Cataract
56244	BTNL2	HP:0001824	Weight loss
56244	BTNL2	HP:0000502	Abnormal conjunctiva morphology
56244	BTNL2	HP:0000501	Glaucoma
56244	BTNL2	HP:0000554	Uveitis
56244	BTNL2	HP:0001880	Eosinophilia
56244	BTNL2	HP:0001882	Leukopenia
56244	BTNL2	HP:0001878	Hemolytic anemia
56244	BTNL2	HP:0001873	Thrombocytopenia
56246	MRAP	HP:0002445	Tetraplegia
56246	MRAP	HP:0001249	Intellectual disability
56246	MRAP	HP:0002574	Episodic abdominal pain
56246	MRAP	HP:0007440	Generalized hyperpigmentation
56246	MRAP	HP:0031076	Impaired cortisol response to insulin stimulation test
56246	MRAP	HP:0000098	Tall stature
56246	MRAP	HP:0000028	Cryptorchidism
56246	MRAP	HP:0000027	Azoospermia
56246	MRAP	HP:0001325	Hypoglycemic coma
56246	MRAP	HP:0000010	Recurrent urinary tract infections
56246	MRAP	HP:0000007	Autosomal recessive inheritance
56246	MRAP	HP:0002615	Hypotension
56246	MRAP	HP:0025451	Testicular adrenal rest tumor
56246	MRAP	HP:0000127	Renal salt wasting
56246	MRAP	HP:0031214	Decreased circulating dehydroepiandrosterone concentration
56246	MRAP	HP:0002719	Recurrent infections
56246	MRAP	HP:0002019	Constipation
56246	MRAP	HP:0002014	Diarrhea
56246	MRAP	HP:0002013	Vomiting
56246	MRAP	HP:0002039	Anorexia
56246	MRAP	HP:0008163	Decreased circulating cortisol level
56246	MRAP	HP:0002153	Hyperkalemia
56246	MRAP	HP:0002173	Hypoglycemic seizures
56246	MRAP	HP:0100618	Leydig cell neoplasia
56246	MRAP	HP:0012605	Hypernatriuria
56246	MRAP	HP:0001988	Recurrent hypoglycemia
56246	MRAP	HP:0004319	Decreased circulating aldosterone level
56246	MRAP	HP:0012734	Ketotic hypoglycemia
56246	MRAP	HP:0003154	Increased circulating ACTH level
56246	MRAP	HP:0000851	Congenital hypothyroidism
56246	MRAP	HP:0000846	Adrenal insufficiency
56246	MRAP	HP:0000826	Precocious puberty
56246	MRAP	HP:0040084	Abnormal circulating renin
56246	MRAP	HP:0040085	Abnormal circulating aldosterone
56246	MRAP	HP:0000953	Hyperpigmentation of the skin
56246	MRAP	HP:0001508	Failure to thrive
56246	MRAP	HP:0011043	Abnormal circulating adrenocorticotropin concentration
56246	MRAP	HP:0002902	Hyponatremia
56246	MRAP	HP:0002960	Autoimmunity
56246	MRAP	HP:0001639	Hypertrophic cardiomyopathy
56246	MRAP	HP:0012432	Chronic fatigue
56246	MRAP	HP:0001824	Weight loss
56259	CTNNBL1	HP:0000007	Autosomal recessive inheritance
56259	CTNNBL1	HP:0002716	Lymphadenopathy
56259	CTNNBL1	HP:0002729	Follicular hyperplasia
56259	CTNNBL1	HP:0001045	Vitiligo
56259	CTNNBL1	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells
56259	CTNNBL1	HP:0001973	Autoimmune thrombocytopenia
56259	CTNNBL1	HP:0004313	Decreased circulating antibody level
56259	CTNNBL1	HP:0011463	Childhood onset
56259	CTNNBL1	HP:0001510	Growth delay
56259	CTNNBL1	HP:0005425	Recurrent sinopulmonary infections
56259	CTNNBL1	HP:0005424	Absent specific antibody response
56259	CTNNBL1	HP:0001888	Lymphopenia
56259	CTNNBL1	HP:0030388	Decreased proportion of class-switched memory B cells
56262	LRRC8A	HP:0008572	External ear malformation
56262	LRRC8A	HP:0100806	Sepsis
56262	LRRC8A	HP:0001287	Meningitis
56262	LRRC8A	HP:0001369	Arthritis
56262	LRRC8A	HP:0000006	Autosomal dominant inheritance
56262	LRRC8A	HP:0012115	Hepatitis
56262	LRRC8A	HP:0002754	Osteomyelitis
56262	LRRC8A	HP:0002719	Recurrent infections
56262	LRRC8A	HP:0002721	Immunodeficiency
56262	LRRC8A	HP:0002024	Malabsorption
56262	LRRC8A	HP:0002014	Diarrhea
56262	LRRC8A	HP:0002110	Bronchiectasis
56262	LRRC8A	HP:0002205	Recurrent respiratory infections
56262	LRRC8A	HP:0100658	Cellulitis
56262	LRRC8A	HP:0200043	Verrucae
56262	LRRC8A	HP:0001944	Dehydration
56262	LRRC8A	HP:0001945	Fever
56262	LRRC8A	HP:0012735	Cough
56262	LRRC8A	HP:0004432	Agammaglobulinemia
56262	LRRC8A	HP:0000988	Skin rash
56262	LRRC8A	HP:0000286	Epicanthus
56262	LRRC8A	HP:0001581	Recurrent skin infections
56262	LRRC8A	HP:0000246	Sinusitis
56262	LRRC8A	HP:0000218	High palate
56262	LRRC8A	HP:0001508	Failure to thrive
56262	LRRC8A	HP:0012378	Fatigue
56262	LRRC8A	HP:0000389	Chronic otitis media
56262	LRRC8A	HP:0000369	Low-set ears
56262	LRRC8A	HP:0000316	Hypertelorism
56262	LRRC8A	HP:0000509	Conjunctivitis
56262	LRRC8A	HP:0001875	Neutropenia
56270	WDR45B	HP:0001250	Seizure
56270	WDR45B	HP:0001252	Hypotonia
56270	WDR45B	HP:0001263	Global developmental delay
56270	WDR45B	HP:0001258	Spastic paraplegia
56270	WDR45B	HP:0001257	Spasticity
56270	WDR45B	HP:0002540	Inability to walk
56270	WDR45B	HP:0002510	Spastic tetraplegia
56270	WDR45B	HP:0001344	Absent speech
56270	WDR45B	HP:0000007	Autosomal recessive inheritance
56270	WDR45B	HP:0008936	Axial hypotonia
56270	WDR45B	HP:0002751	Kyphoscoliosis
56270	WDR45B	HP:0002098	Respiratory distress
56270	WDR45B	HP:0002079	Hypoplasia of the corpus callosum
56270	WDR45B	HP:0002119	Ventriculomegaly
56270	WDR45B	HP:0002187	Intellectual disability, profound
56270	WDR45B	HP:0003593	Infantile onset
56270	WDR45B	HP:0003676	Progressive
56270	WDR45B	HP:0003623	Neonatal onset
56270	WDR45B	HP:0006872	Cerebral hypoplasia
56270	WDR45B	HP:0030674	Antenatal onset
56270	WDR45B	HP:0034295	Reduced cerebral white matter volume
56270	WDR45B	HP:0034392	Joint contracture
56270	WDR45B	HP:0000252	Microcephaly
56270	WDR45B	HP:0011167	Focal tonic seizure
56270	WDR45B	HP:0000505	Visual impairment
56479	KCNQ5	HP:0025116	Fetal distress
56479	KCNQ5	HP:0001250	Seizure
56479	KCNQ5	HP:0001252	Hypotonia
56479	KCNQ5	HP:0001249	Intellectual disability
56479	KCNQ5	HP:0001263	Global developmental delay
56479	KCNQ5	HP:0001344	Absent speech
56479	KCNQ5	HP:0000006	Autosomal dominant inheritance
56479	KCNQ5	HP:0003593	Infantile onset
56479	KCNQ5	HP:0200134	Epileptic encephalopathy
56479	KCNQ5	HP:0002384	Focal impaired awareness seizure
56479	KCNQ5	HP:0002317	Unsteady gait
56479	KCNQ5	HP:0033454	Tube feeding
56479	KCNQ5	HP:0000750	Delayed speech and language development
56479	KCNQ5	HP:0011463	Childhood onset
56479	KCNQ5	HP:0032792	Tonic seizure
56479	KCNQ5	HP:0012469	Infantile spasms
56479	KCNQ5	HP:0012444	Brain atrophy
56521	DNAJC12	HP:0001290	Generalized hypotonia
56521	DNAJC12	HP:0001276	Hypertonia
56521	DNAJC12	HP:0001256	Intellectual disability, mild
56521	DNAJC12	HP:0001263	Global developmental delay
56521	DNAJC12	HP:0002509	Limb hypertonia
56521	DNAJC12	HP:0001332	Dystonia
56521	DNAJC12	HP:0000007	Autosomal recessive inheritance
56521	DNAJC12	HP:0001300	Parkinsonism
56521	DNAJC12	HP:0008936	Axial hypotonia
56521	DNAJC12	HP:0002067	Bradykinesia
56521	DNAJC12	HP:0002136	Broad-based gait
56521	DNAJC12	HP:0010553	Oculogyric crisis
56521	DNAJC12	HP:0007018	Attention deficit hyperactivity disorder
56521	DNAJC12	HP:0000639	Nystagmus
56521	DNAJC12	HP:0000750	Delayed speech and language development
56603	CYP26B1	HP:0001166	Arachnodactyly
56603	CYP26B1	HP:0001363	Craniosynostosis
56603	CYP26B1	HP:0000007	Autosomal recessive inheritance
56603	CYP26B1	HP:0012165	Oligodactyly
56603	CYP26B1	HP:0002085	Occipital encephalocele
56603	CYP26B1	HP:0030674	Antenatal onset
56603	CYP26B1	HP:0003041	Humeroradial synostosis
56603	CYP26B1	HP:0000248	Brachycephaly
56606	SLC2A9	HP:0008651	Uric acid urolithiasis independent of gout
56606	SLC2A9	HP:0000091	Abnormal renal tubule morphology
56606	SLC2A9	HP:0000007	Autosomal recessive inheritance
56606	SLC2A9	HP:0000006	Autosomal dominant inheritance
56606	SLC2A9	HP:0030973	Postexertional symptom exacerbation
56606	SLC2A9	HP:0002018	Nausea
56606	SLC2A9	HP:0002013	Vomiting
56606	SLC2A9	HP:0002150	Hypercalciuria
56606	SLC2A9	HP:0003418	Back pain
56606	SLC2A9	HP:0003537	Hypouricemia
56606	SLC2A9	HP:0012622	Chronic kidney disease
56606	SLC2A9	HP:0001919	Acute kidney injury
56606	SLC2A9	HP:0000790	Hematuria
56606	SLC2A9	HP:0000787	Nephrolithiasis
56606	SLC2A9	HP:0003149	Hyperuricosuria
56606	SLC2A9	HP:0003138	Increased blood urea nitrogen
56606	SLC2A9	HP:0012213	Decreased glomerular filtration rate
56606	SLC2A9	HP:0012211	Abnormal renal physiology
56606	SLC2A9	HP:0012595	Mild proteinuria
56616	DIABLO	HP:0000006	Autosomal dominant inheritance
56616	DIABLO	HP:0003676	Progressive
56616	DIABLO	HP:0003621	Juvenile onset
56616	DIABLO	HP:0011462	Young adult onset
56616	DIABLO	HP:0000360	Tinnitus
56616	DIABLO	HP:0000407	Sensorineural hearing impairment
56623	INPP5E	HP:0001162	Postaxial hand polydactyly
56623	INPP5E	HP:0001161	Hand polydactyly
56623	INPP5E	HP:0100951	Enlarged fossa interpeduncularis
56623	INPP5E	HP:0002465	Poor speech
56623	INPP5E	HP:0001105	Retinal atrophy
56623	INPP5E	HP:0007271	Occipital myelomeningocele
56623	INPP5E	HP:0010864	Intellectual disability, severe
56623	INPP5E	HP:0002421	Poor head control
56623	INPP5E	HP:0002419	Molar tooth sign on MRI
56623	INPP5E	HP:0001290	Generalized hypotonia
56623	INPP5E	HP:0001274	Agenesis of corpus callosum
56623	INPP5E	HP:0001288	Gait disturbance
56623	INPP5E	HP:0001256	Intellectual disability, mild
56623	INPP5E	HP:0001250	Seizure
56623	INPP5E	HP:0001252	Hypotonia
56623	INPP5E	HP:0001251	Ataxia
56623	INPP5E	HP:0001249	Intellectual disability
56623	INPP5E	HP:0001263	Global developmental delay
56623	INPP5E	HP:0001257	Spasticity
56623	INPP5E	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
56623	INPP5E	HP:0007360	Aplasia/Hypoplasia of the cerebellum
56623	INPP5E	HP:0002553	Highly arched eyebrow
56623	INPP5E	HP:0002508	Brainstem dysplasia
56623	INPP5E	HP:0000083	Renal insufficiency
56623	INPP5E	HP:0001395	Hepatic fibrosis
56623	INPP5E	HP:0001394	Cirrhosis
56623	INPP5E	HP:0000077	Abnormality of the kidney
56623	INPP5E	HP:0025336	Delayed ability to sit
56623	INPP5E	HP:0000054	Micropenis
56623	INPP5E	HP:0000023	Inguinal hernia
56623	INPP5E	HP:0001347	Hyperreflexia
56623	INPP5E	HP:0001357	Plagiocephaly
56623	INPP5E	HP:0008872	Feeding difficulties in infancy
56623	INPP5E	HP:0000007	Autosomal recessive inheritance
56623	INPP5E	HP:0000003	Multicystic kidney dysplasia
56623	INPP5E	HP:0001337	Tremor
56623	INPP5E	HP:0001320	Cerebellar vermis hypoplasia
56623	INPP5E	HP:0002650	Scoliosis
56623	INPP5E	HP:0002612	Congenital hepatic fibrosis
56623	INPP5E	HP:0008915	Childhood-onset truncal obesity
56623	INPP5E	HP:0000158	Macroglossia
56623	INPP5E	HP:0000175	Cleft palate
56623	INPP5E	HP:0007675	Progressive night blindness
56623	INPP5E	HP:0007663	Reduced visual acuity
56623	INPP5E	HP:0002793	Abnormal pattern of respiration
56623	INPP5E	HP:0002790	Neonatal breathing dysregulation
56623	INPP5E	HP:0000112	Nephropathy
56623	INPP5E	HP:0000107	Renal cyst
56623	INPP5E	HP:0001409	Portal hypertension
56623	INPP5E	HP:0003312	Abnormal form of the vertebral bodies
56623	INPP5E	HP:0002085	Occipital encephalocele
56623	INPP5E	HP:0002084	Encephalocele
56623	INPP5E	HP:0003468	Abnormal vertebral morphology
56623	INPP5E	HP:0002126	Polymicrogyria
56623	INPP5E	HP:0002104	Apnea
56623	INPP5E	HP:0011933	Elongated superior cerebellar peduncle
56623	INPP5E	HP:0002195	Dysgenesis of the cerebellar vermis
56623	INPP5E	HP:0003593	Infantile onset
56623	INPP5E	HP:0002269	Abnormality of neuronal migration
56623	INPP5E	HP:0002240	Hepatomegaly
56623	INPP5E	HP:0002251	Aganglionic megacolon
56623	INPP5E	HP:0200096	Triangular-shaped open mouth
56623	INPP5E	HP:0011968	Feeding difficulties
56623	INPP5E	HP:0002365	Hypoplasia of the brainstem
56623	INPP5E	HP:0002342	Intellectual disability, moderate
56623	INPP5E	HP:0002335	Agenesis of cerebellar vermis
56623	INPP5E	HP:0010828	Hemifacial spasm
56623	INPP5E	HP:0010808	Protruding tongue
56623	INPP5E	HP:0100626	Chronic hepatic failure
56623	INPP5E	HP:0000639	Nystagmus
56623	INPP5E	HP:0000617	Abnormality of ocular smooth pursuit
56623	INPP5E	HP:0000613	Photophobia
56623	INPP5E	HP:0000612	Iris coloboma
56623	INPP5E	HP:0001956	Truncal obesity
56623	INPP5E	HP:0000662	Nyctalopia
56623	INPP5E	HP:0000657	Oculomotor apraxia
56623	INPP5E	HP:0030680	Abnormality of cardiovascular system morphology
56623	INPP5E	HP:0031936	Delayed ability to walk
56623	INPP5E	HP:0000752	Hyperactivity
56623	INPP5E	HP:0000750	Delayed speech and language development
56623	INPP5E	HP:0000742	Self-mutilation
56623	INPP5E	HP:0000718	Aggressive behavior
56623	INPP5E	HP:0004422	Biparietal narrowing
56623	INPP5E	HP:0000864	Abnormality of the hypothalamus-pituitary axis
56623	INPP5E	HP:0000286	Epicanthus
56623	INPP5E	HP:0000256	Macrocephaly
56623	INPP5E	HP:0000276	Long face
56623	INPP5E	HP:0007772	Impaired smooth pursuit
56623	INPP5E	HP:0030084	Clinodactyly
56623	INPP5E	HP:0000238	Hydrocephalus
56623	INPP5E	HP:0002896	Neoplasm of the liver
56623	INPP5E	HP:0000252	Microcephaly
56623	INPP5E	HP:0002876	Episodic tachypnea
56623	INPP5E	HP:0002871	Central apnea
56623	INPP5E	HP:0000202	Orofacial cleft
56623	INPP5E	HP:0005248	Intrahepatic biliary atresia
56623	INPP5E	HP:0002910	Elevated hepatic transaminase
56623	INPP5E	HP:0001696	Situs inversus totalis
56623	INPP5E	HP:0000369	Low-set ears
56623	INPP5E	HP:0000368	Low-set, posteriorly rotated ears
56623	INPP5E	HP:0001651	Dextrocardia
56623	INPP5E	HP:0007973	Retinal dysplasia
56623	INPP5E	HP:0000486	Strabismus
56623	INPP5E	HP:0000480	Retinal coloboma
56623	INPP5E	HP:0000463	Anteverted nares
56623	INPP5E	HP:0001744	Splenomegaly
56623	INPP5E	HP:0000426	Prominent nasal bridge
56623	INPP5E	HP:0000518	Cataract
56623	INPP5E	HP:0001829	Foot polydactyly
56623	INPP5E	HP:0000508	Ptosis
56623	INPP5E	HP:0000505	Visual impairment
56623	INPP5E	HP:0001830	Postaxial foot polydactyly
56623	INPP5E	HP:0000588	Optic disc coloboma
56623	INPP5E	HP:0011220	Prominent forehead
56623	INPP5E	HP:0000556	Retinal dystrophy
56623	INPP5E	HP:0000572	Visual loss
56623	INPP5E	HP:0000570	Abnormal saccadic eye movements
56623	INPP5E	HP:0000567	Chorioretinal coloboma
56623	INPP5E	HP:0000543	Optic disc pallor
56652	TWNK	HP:0002495	Impaired vibratory sensation
56652	TWNK	HP:0002460	Distal muscle weakness
56652	TWNK	HP:0007302	Bipolar affective disorder
56652	TWNK	HP:0008619	Bilateral sensorineural hearing impairment
56652	TWNK	HP:0007240	Progressive gait ataxia
56652	TWNK	HP:0010871	Sensory ataxia
56652	TWNK	HP:0003731	Quadriceps muscle weakness
56652	TWNK	HP:0003737	Mitochondrial myopathy
56652	TWNK	HP:0002403	Positive Romberg sign
56652	TWNK	HP:0003701	Proximal muscle weakness
56652	TWNK	HP:0003700	Generalized amyotrophy
56652	TWNK	HP:0003713	Muscle fiber necrosis
56652	TWNK	HP:0001298	Encephalopathy
56652	TWNK	HP:0001290	Generalized hypotonia
56652	TWNK	HP:0001276	Hypertonia
56652	TWNK	HP:0001272	Cerebellar atrophy
56652	TWNK	HP:0001288	Gait disturbance
56652	TWNK	HP:0001284	Areflexia
56652	TWNK	HP:0001254	Lethargy
56652	TWNK	HP:0001250	Seizure
56652	TWNK	HP:0001252	Hypotonia
56652	TWNK	HP:0001251	Ataxia
56652	TWNK	HP:0001249	Intellectual disability
56652	TWNK	HP:0002578	Gastroparesis
56652	TWNK	HP:0001265	Hyporeflexia
56652	TWNK	HP:0001260	Dysarthria
56652	TWNK	HP:0001263	Global developmental delay
56652	TWNK	HP:0001262	Excessive daytime somnolence
56652	TWNK	HP:0033685	Fiber type grouping
56652	TWNK	HP:0007366	Atrophy/Degeneration affecting the brainstem
56652	TWNK	HP:0007344	Atrophy/Degeneration involving the spinal cord
56652	TWNK	HP:0002505	Loss of ambulation
56652	TWNK	HP:0001392	Abnormality of the liver
56652	TWNK	HP:0025331	Upgaze palsy
56652	TWNK	HP:0001349	Facial diplegia
56652	TWNK	HP:0000017	Nocturia
56652	TWNK	HP:0001328	Specific learning disability
56652	TWNK	HP:0001324	Muscle weakness
56652	TWNK	HP:0000007	Autosomal recessive inheritance
56652	TWNK	HP:0001337	Tremor
56652	TWNK	HP:0000006	Autosomal dominant inheritance
56652	TWNK	HP:0001336	Myoclonus
56652	TWNK	HP:0033748	Hypoesthesia
56652	TWNK	HP:0001310	Dysmetria
56652	TWNK	HP:0001315	Reduced tendon reflexes
56652	TWNK	HP:0001300	Parkinsonism
56652	TWNK	HP:0000135	Hypogonadism
56652	TWNK	HP:0012103	Abnormality of the mitochondrion
56652	TWNK	HP:0000133	Gonadal dysgenesis
56652	TWNK	HP:0002020	Gastroesophageal reflux
56652	TWNK	HP:0002019	Constipation
56652	TWNK	HP:0003326	Myalgia
56652	TWNK	HP:0002015	Dysphagia
56652	TWNK	HP:0002013	Vomiting
56652	TWNK	HP:0003323	Progressive muscle weakness
56652	TWNK	HP:0003324	Generalized muscle weakness
56652	TWNK	HP:0100543	Cognitive impairment
56652	TWNK	HP:0002093	Respiratory insufficiency
56652	TWNK	HP:0002067	Bradykinesia
56652	TWNK	HP:0002066	Gait ataxia
56652	TWNK	HP:0003394	Muscle spasm
56652	TWNK	HP:0002063	Rigidity
56652	TWNK	HP:0003390	Sensory axonal neuropathy
56652	TWNK	HP:0002076	Migraine
56652	TWNK	HP:0002071	Abnormality of extrapyramidal motor function
56652	TWNK	HP:0002059	Cerebral atrophy
56652	TWNK	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
56652	TWNK	HP:0003388	Easy fatigability
56652	TWNK	HP:0008180	Mildly elevated creatine kinase
56652	TWNK	HP:0003477	Peripheral axonal neuropathy
56652	TWNK	HP:0003487	Babinski sign
56652	TWNK	HP:0002151	Increased serum lactate
56652	TWNK	HP:0002120	Cerebral cortical atrophy
56652	TWNK	HP:0002136	Broad-based gait
56652	TWNK	HP:0002133	Status epilepticus
56652	TWNK	HP:0003458	EMG: myopathic abnormalities
56652	TWNK	HP:0003434	Sensory ataxic neuropathy
56652	TWNK	HP:0003438	Absent Achilles reflex
56652	TWNK	HP:0010546	Muscle fibrillation
56652	TWNK	HP:0008209	Premature ovarian insufficiency
56652	TWNK	HP:0008278	Cerebellar cortical atrophy
56652	TWNK	HP:0003593	Infantile onset
56652	TWNK	HP:0002270	Abnormality of the autonomic nervous system
56652	TWNK	HP:0100704	Cerebral visual impairment
56652	TWNK	HP:0003581	Adult onset
56652	TWNK	HP:0003551	Difficulty climbing stairs
56652	TWNK	HP:0003547	Shoulder girdle muscle weakness
56652	TWNK	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
56652	TWNK	HP:0003546	Exercise intolerance
56652	TWNK	HP:0003557	Increased variability in muscle fiber diameter
56652	TWNK	HP:0003542	Increased serum pyruvate
56652	TWNK	HP:0200134	Epileptic encephalopathy
56652	TWNK	HP:0007042	Focal white matter lesions
56652	TWNK	HP:0010628	Facial palsy
56652	TWNK	HP:0002396	Cogwheel rigidity
56652	TWNK	HP:0003693	Distal amyotrophy
56652	TWNK	HP:0003691	Scapular winging
56652	TWNK	HP:0003690	Limb muscle weakness
56652	TWNK	HP:0002359	Frequent falls
56652	TWNK	HP:0003688	Cytochrome C oxidase-negative muscle fibers
56652	TWNK	HP:0003689	Multiple mitochondrial DNA deletions
56652	TWNK	HP:0002375	Hypokinesia
56652	TWNK	HP:0003676	Progressive
56652	TWNK	HP:0003687	Centrally nucleated skeletal muscle fibers
56652	TWNK	HP:0002354	Memory impairment
56652	TWNK	HP:0002322	Resting tremor
56652	TWNK	HP:0009830	Peripheral neuropathy
56652	TWNK	HP:0002312	Clumsiness
56652	TWNK	HP:0002305	Athetosis
56652	TWNK	HP:0003621	Juvenile onset
56652	TWNK	HP:0006858	Impaired distal proprioception
56652	TWNK	HP:0006886	Impaired distal vibration sensation
56652	TWNK	HP:0000639	Nystagmus
56652	TWNK	HP:0001962	Palpitations
56652	TWNK	HP:0000648	Optic atrophy
56652	TWNK	HP:0001946	Ketosis
56652	TWNK	HP:0001952	Glucose intolerance
56652	TWNK	HP:0000602	Ophthalmoplegia
56652	TWNK	HP:0012696	Abnormal thalamic MRI signal intensity
56652	TWNK	HP:0012664	Reduced left ventricular ejection fraction
56652	TWNK	HP:0031956	Elevated circulating aspartate aminotransferase concentration
56652	TWNK	HP:0031964	Elevated circulating alanine aminotransferase concentration
56652	TWNK	HP:0004308	Ventricular arrhythmia
56652	TWNK	HP:0004305	Involuntary movements
56652	TWNK	HP:0031987	Diminished ability to concentrate
56652	TWNK	HP:0006937	Impaired distal tactile sensation
56652	TWNK	HP:0004389	Intestinal pseudo-obstruction
56652	TWNK	HP:0100022	Abnormality of movement
56652	TWNK	HP:0000739	Anxiety
56652	TWNK	HP:0000716	Depression
56652	TWNK	HP:0000712	Emotional lability
56652	TWNK	HP:0000726	Dementia
56652	TWNK	HP:0000709	Psychosis
56652	TWNK	HP:0000786	Primary amenorrhea
56652	TWNK	HP:0003198	Myopathy
56652	TWNK	HP:0012847	Epilepsia partialis continua
56652	TWNK	HP:0000853	Goiter
56652	TWNK	HP:0000836	Hyperthyroidism
56652	TWNK	HP:0000819	Diabetes mellitus
56652	TWNK	HP:0000815	Hypergonadotropic hypogonadism
56652	TWNK	HP:0000821	Hypothyroidism
56652	TWNK	HP:0000820	Abnormality of the thyroid gland
56652	TWNK	HP:0003236	Elevated circulating creatine kinase concentration
56652	TWNK	HP:0003202	Skeletal muscle atrophy
56652	TWNK	HP:0003200	Ragged-red muscle fibers
56652	TWNK	HP:0000969	Edema
56652	TWNK	HP:0000939	Osteoporosis
56652	TWNK	HP:0011675	Arrhythmia
56652	TWNK	HP:0005110	Atrial fibrillation
56652	TWNK	HP:0000218	High palate
56652	TWNK	HP:0002875	Exertional dyspnea
56652	TWNK	HP:0001508	Failure to thrive
56652	TWNK	HP:0007814	Retinal pigment epithelial mottling
56652	TWNK	HP:0012378	Fatigue
56652	TWNK	HP:0001618	Dysphonia
56652	TWNK	HP:0002910	Elevated hepatic transaminase
56652	TWNK	HP:0000365	Hearing impairment
56652	TWNK	HP:0031422	Abnormal cerebellar cortex morphology
56652	TWNK	HP:0000338	Hypomimic face
56652	TWNK	HP:0001644	Dilated cardiomyopathy
56652	TWNK	HP:0001662	Bradycardia
56652	TWNK	HP:0001653	Mitral regurgitation
56652	TWNK	HP:0001638	Cardiomyopathy
56652	TWNK	HP:0001634	Mitral valve prolapse
56652	TWNK	HP:0030319	Weakness of facial musculature
56652	TWNK	HP:0000407	Sensorineural hearing impairment
56652	TWNK	HP:0001730	Progressive hearing impairment
56652	TWNK	HP:0001712	Left ventricular hypertrophy
56652	TWNK	HP:0000496	Abnormality of eye movement
56652	TWNK	HP:0001751	Abnormal vestibular function
56652	TWNK	HP:0001761	Pes cavus
56652	TWNK	HP:0025708	Early young adult onset
56652	TWNK	HP:0000518	Cataract
56652	TWNK	HP:0001824	Weight loss
56652	TWNK	HP:0000508	Ptosis
56652	TWNK	HP:0000505	Visual impairment
56652	TWNK	HP:0000597	Ophthalmoparesis
56652	TWNK	HP:0000590	Progressive external ophthalmoplegia
56652	TWNK	HP:0000544	External ophthalmoplegia
56683	CFAP298	HP:0025177	Peribronchovascular interstitial thickening
56683	CFAP298	HP:0002566	Intestinal malrotation
56683	CFAP298	HP:0001217	Clubbing
56683	CFAP298	HP:0000007	Autosomal recessive inheritance
56683	CFAP298	HP:0002643	Neonatal respiratory distress
56683	CFAP298	HP:0000119	Abnormality of the genitourinary system
56683	CFAP298	HP:0032543	Lithoptysis
56683	CFAP298	HP:0031245	Productive cough
56683	CFAP298	HP:0002011	Morphological central nervous system abnormality
56683	CFAP298	HP:0100582	Nasal polyposis
56683	CFAP298	HP:0002119	Ventriculomegaly
56683	CFAP298	HP:0002110	Bronchiectasis
56683	CFAP298	HP:0008222	Female infertility
56683	CFAP298	HP:0002257	Chronic rhinitis
56683	CFAP298	HP:0002205	Recurrent respiratory infections
56683	CFAP298	HP:0100750	Atelectasis
56683	CFAP298	HP:0032016	Abnormal sputum
56683	CFAP298	HP:0011947	Respiratory tract infection
56683	CFAP298	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
56683	CFAP298	HP:0010772	Anomalous pulmonary venous return
56683	CFAP298	HP:0030680	Abnormality of cardiovascular system morphology
56683	CFAP298	HP:0000750	Delayed speech and language development
56683	CFAP298	HP:0000789	Infertility
56683	CFAP298	HP:0000924	Abnormality of the skeletal system
56683	CFAP298	HP:0004469	Chronic bronchitis
56683	CFAP298	HP:0011539	Atrial situs ambiguous
56683	CFAP298	HP:0011535	Abnormal atrial arrangement
56683	CFAP298	HP:0030828	Wheezing
56683	CFAP298	HP:0003251	Male infertility
56683	CFAP298	HP:0011617	Pulmonary situs ambiguus
56683	CFAP298	HP:0033036	Decreased nasal nitric oxide
56683	CFAP298	HP:0025576	Abnormal inferior vena cava morphology
56683	CFAP298	HP:0012265	Ciliary dyskinesia
56683	CFAP298	HP:0012263	Immotile cilia
56683	CFAP298	HP:0012256	Absent outer dynein arms
56683	CFAP298	HP:0000238	Hydrocephalus
56683	CFAP298	HP:0012206	Abnormal sperm motility
56683	CFAP298	HP:0012207	Reduced sperm motility
56683	CFAP298	HP:0002878	Respiratory failure
56683	CFAP298	HP:0012384	Rhinitis
56683	CFAP298	HP:0000389	Chronic otitis media
56683	CFAP298	HP:0006536	Airway obstruction
56683	CFAP298	HP:0001696	Situs inversus totalis
56683	CFAP298	HP:0000365	Hearing impairment
56683	CFAP298	HP:0001669	Transposition of the great arteries
56683	CFAP298	HP:0031456	Ectopic pregnancy
56683	CFAP298	HP:0001627	Abnormal heart morphology
56683	CFAP298	HP:0005301	Persistent left superior vena cava
56683	CFAP298	HP:0000403	Recurrent otitis media
56683	CFAP298	HP:0000405	Conductive hearing impairment
56683	CFAP298	HP:0001719	Double outlet right ventricle
56683	CFAP298	HP:0011109	Chronic sinusitis
56683	CFAP298	HP:0011108	Recurrent sinusitis
56683	CFAP298	HP:0001746	Asplenia
56683	CFAP298	HP:0001748	Polysplenia
56683	CFAP298	HP:0001742	Nasal congestion
56683	CFAP298	HP:0005425	Recurrent sinopulmonary infections
56683	CFAP298	HP:0011274	Recurrent mycobacterial infections
56683	CFAP298	HP:0000510	Rod-cone dystrophy
56704	JPH1	HP:0001171	Split hand
56704	JPH1	HP:0002460	Distal muscle weakness
56704	JPH1	HP:0003701	Proximal muscle weakness
56704	JPH1	HP:0001284	Areflexia
56704	JPH1	HP:0000007	Autosomal recessive inheritance
56704	JPH1	HP:0000006	Autosomal dominant inheritance
56704	JPH1	HP:0002751	Kyphoscoliosis
56704	JPH1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
56704	JPH1	HP:0003450	Axonal regeneration
56704	JPH1	HP:0003431	Decreased motor nerve conduction velocity
56704	JPH1	HP:0003593	Infantile onset
56704	JPH1	HP:0003693	Distal amyotrophy
56704	JPH1	HP:0002936	Distal sensory impairment
56704	JPH1	HP:0001762	Talipes equinovarus
56729	RETN	HP:0000006	Autosomal dominant inheritance
56729	RETN	HP:0005978	Type II diabetes mellitus
56729	RETN	HP:0003584	Late onset
56729	RETN	HP:0031819	Increased waist to hip ratio
56729	RETN	HP:0000855	Insulin resistance
56776	FMN2	HP:0002465	Poor speech
56776	FMN2	HP:0001290	Generalized hypotonia
56776	FMN2	HP:0001249	Intellectual disability
56776	FMN2	HP:0001263	Global developmental delay
56776	FMN2	HP:0000007	Autosomal recessive inheritance
56776	FMN2	HP:0003593	Infantile onset
56776	FMN2	HP:0002384	Focal impaired awareness seizure
56776	FMN2	HP:0000750	Delayed speech and language development
56776	FMN2	HP:0001634	Mitral valve prolapse
56896	DPYSL5	HP:0001182	Tapered finger
56896	DPYSL5	HP:0025101	Dysgenesis of the hippocampus
56896	DPYSL5	HP:0010952	Mild fetal ventriculomegaly
56896	DPYSL5	HP:0010864	Intellectual disability, severe
56896	DPYSL5	HP:0001274	Agenesis of corpus callosum
56896	DPYSL5	HP:0001252	Hypotonia
56896	DPYSL5	HP:0001251	Ataxia
56896	DPYSL5	HP:0031061	Impaired toileting ability
56896	DPYSL5	HP:0007359	Focal-onset seizure
56896	DPYSL5	HP:0025336	Delayed ability to sit
56896	DPYSL5	HP:0000054	Micropenis
56896	DPYSL5	HP:0001385	Hip dysplasia
56896	DPYSL5	HP:0001382	Joint hypermobility
56896	DPYSL5	HP:0001357	Plagiocephaly
56896	DPYSL5	HP:0000028	Cryptorchidism
56896	DPYSL5	HP:0001344	Absent speech
56896	DPYSL5	HP:0000006	Autosomal dominant inheritance
56896	DPYSL5	HP:0001305	Dandy-Walker malformation
56896	DPYSL5	HP:0002650	Scoliosis
56896	DPYSL5	HP:0001321	Cerebellar hypoplasia
56896	DPYSL5	HP:0000189	Narrow palate
56896	DPYSL5	HP:0000154	Wide mouth
56896	DPYSL5	HP:0002015	Dysphagia
56896	DPYSL5	HP:0002069	Bilateral tonic-clonic seizure
56896	DPYSL5	HP:0002072	Chorea
56896	DPYSL5	HP:0009487	Ulnar deviation of the hand
56896	DPYSL5	HP:0100710	Impulsivity
56896	DPYSL5	HP:0002212	Curly hair
56896	DPYSL5	HP:0008491	Premature anterior fontanel closure
56896	DPYSL5	HP:0002305	Athetosis
56896	DPYSL5	HP:0004283	Narrow palm
56896	DPYSL5	HP:0000601	Hypotelorism
56896	DPYSL5	HP:0011344	Severe global developmental delay
56896	DPYSL5	HP:0004322	Short stature
56896	DPYSL5	HP:0003066	Limited knee extension
56896	DPYSL5	HP:0031936	Delayed ability to walk
56896	DPYSL5	HP:0000718	Aggressive behavior
56896	DPYSL5	HP:0000729	Autistic behavior
56896	DPYSL5	HP:0002827	Hip dislocation
56896	DPYSL5	HP:0000248	Brachycephaly
56896	DPYSL5	HP:0000218	High palate
56896	DPYSL5	HP:0001558	Decreased fetal movement
56896	DPYSL5	HP:0000316	Hypertelorism
56896	DPYSL5	HP:0000322	Short philtrum
56896	DPYSL5	HP:0000400	Macrotia
56896	DPYSL5	HP:0000486	Strabismus
56896	DPYSL5	HP:0012471	Thick vermilion border
56896	DPYSL5	HP:0000494	Downslanted palpebral fissures
56896	DPYSL5	HP:0000490	Deeply set eye
56896	DPYSL5	HP:0000431	Wide nasal bridge
56896	DPYSL5	HP:0000520	Proptosis
56910	STARD7	HP:0010852	EEG with photoparoxysmal response
56910	STARD7	HP:0001251	Ataxia
56910	STARD7	HP:0001249	Intellectual disability
56910	STARD7	HP:0001351	Jerk-locked premyoclonus spikes
56910	STARD7	HP:0001326	EEG with irregular generalized spike and wave complexes
56910	STARD7	HP:0001340	Enhancement of the C-reflex
56910	STARD7	HP:0001337	Tremor
56910	STARD7	HP:0000006	Autosomal dominant inheritance
56910	STARD7	HP:0001336	Myoclonus
56910	STARD7	HP:0001312	Giant somatosensory evoked potentials
56910	STARD7	HP:0100543	Cognitive impairment
56910	STARD7	HP:0002069	Bilateral tonic-clonic seizure
56910	STARD7	HP:0002076	Migraine
56910	STARD7	HP:0003581	Adult onset
56910	STARD7	HP:0003680	Nonprogressive
56910	STARD7	HP:0000643	Blepharospasm
56910	STARD7	HP:0000726	Dementia
56915	EXOSC5	HP:0001182	Tapered finger
56915	EXOSC5	HP:0002415	Leukodystrophy
56915	EXOSC5	HP:0001290	Generalized hypotonia
56915	EXOSC5	HP:0001272	Cerebellar atrophy
56915	EXOSC5	HP:0001252	Hypotonia
56915	EXOSC5	HP:0001251	Ataxia
56915	EXOSC5	HP:0001249	Intellectual disability
56915	EXOSC5	HP:0001260	Dysarthria
56915	EXOSC5	HP:0001263	Global developmental delay
56915	EXOSC5	HP:0001257	Spasticity
56915	EXOSC5	HP:0002540	Inability to walk
56915	EXOSC5	HP:0001347	Hyperreflexia
56915	EXOSC5	HP:0001324	Muscle weakness
56915	EXOSC5	HP:0001344	Absent speech
56915	EXOSC5	HP:0000007	Autosomal recessive inheritance
56915	EXOSC5	HP:0001310	Dysmetria
56915	EXOSC5	HP:0001302	Pachygyria
56915	EXOSC5	HP:0002650	Scoliosis
56915	EXOSC5	HP:0000154	Wide mouth
56915	EXOSC5	HP:0002015	Dysphagia
56915	EXOSC5	HP:0011712	Right bundle branch block
56915	EXOSC5	HP:0002120	Cerebral cortical atrophy
56915	EXOSC5	HP:0003429	CNS hypomyelination
56915	EXOSC5	HP:0002187	Intellectual disability, profound
56915	EXOSC5	HP:0003593	Infantile onset
56915	EXOSC5	HP:0011968	Feeding difficulties
56915	EXOSC5	HP:0002310	Orofacial dyskinesia
56915	EXOSC5	HP:0000648	Optic atrophy
56915	EXOSC5	HP:0000692	Tooth malposition
56915	EXOSC5	HP:0000666	Horizontal nystagmus
56915	EXOSC5	HP:0004322	Short stature
56915	EXOSC5	HP:0004411	Deviated nasal septum
56915	EXOSC5	HP:0000278	Retrognathia
56915	EXOSC5	HP:0030084	Clinodactyly
56915	EXOSC5	HP:0000252	Microcephaly
56915	EXOSC5	HP:0001510	Growth delay
56915	EXOSC5	HP:0012385	Camptodactyly
56915	EXOSC5	HP:0005180	Tricuspid regurgitation
56915	EXOSC5	HP:0000340	Sloping forehead
56915	EXOSC5	HP:0032794	Myoclonic seizure
56915	EXOSC5	HP:0001653	Mitral regurgitation
56915	EXOSC5	HP:0000303	Mandibular prognathia
56915	EXOSC5	HP:0000483	Astigmatism
56915	EXOSC5	HP:0000486	Strabismus
56915	EXOSC5	HP:0012471	Thick vermilion border
56915	EXOSC5	HP:0000448	Prominent nose
56915	EXOSC5	HP:0000426	Prominent nasal bridge
56915	EXOSC5	HP:0000565	Esotropia
56915	EXOSC5	HP:0000545	Myopia
56916	SMARCAD1	HP:0001182	Tapered finger
56916	SMARCAD1	HP:0031045	Acral blistering
56916	SMARCAD1	HP:0001217	Clubbing
56916	SMARCAD1	HP:0007545	Congenital palmoplantar hyperkeratosis
56916	SMARCAD1	HP:0007477	Abnormal dermatoglyphics
56916	SMARCAD1	HP:0007455	Adermatoglyphia
56916	SMARCAD1	HP:0000006	Autosomal dominant inheritance
56916	SMARCAD1	HP:0032541	Knuckle pad
56916	SMARCAD1	HP:0100490	Camptodactyly of finger
56916	SMARCAD1	HP:0011838	Sclerodactyly
56916	SMARCAD1	HP:0008404	Nail dystrophy
56916	SMARCAD1	HP:0010621	Cutaneous syndactyly of toes
56916	SMARCAD1	HP:0001056	Milia
56916	SMARCAD1	HP:0001034	Hypermelanotic macule
56916	SMARCAD1	HP:0025092	Epidermal acanthosis
56916	SMARCAD1	HP:0100679	Lack of skin elasticity
56916	SMARCAD1	HP:0001072	Thickened skin
56916	SMARCAD1	HP:0010765	Palmar hyperkeratosis
56916	SMARCAD1	HP:0009775	Amniotic constriction ring
56916	SMARCAD1	HP:0003623	Neonatal onset
56916	SMARCAD1	HP:0034012	Palmoplantar hypohidrosis
56916	SMARCAD1	HP:0000988	Skin rash
56916	SMARCAD1	HP:0000982	Palmoplantar keratoderma
56916	SMARCAD1	HP:0000958	Dry skin
56916	SMARCAD1	HP:0000954	Single transverse palmar crease
56916	SMARCAD1	HP:0000968	Ectodermal dysplasia
56916	SMARCAD1	HP:0000966	Hypohidrosis
56916	SMARCAD1	HP:0000963	Thin skin
56916	SMARCAD1	HP:0008065	Aplasia/Hypoplasia of the skin
56916	SMARCAD1	HP:0008066	Abnormal blistering of the skin
56916	SMARCAD1	HP:0001597	Abnormality of the nail
56916	SMARCAD1	HP:0030044	Flexion contracture of digit
56916	SMARCAD1	HP:0001792	Small nail
56916	SMARCAD1	HP:0006739	Squamous cell carcinoma of the skin
56922	MCCC1	HP:0033596	Elevated urinary 3-methylcrotonylglycine level
56922	MCCC1	HP:0001290	Generalized hypotonia
56922	MCCC1	HP:0001254	Lethargy
56922	MCCC1	HP:0001250	Seizure
56922	MCCC1	HP:0001252	Hypotonia
56922	MCCC1	HP:0001249	Intellectual disability
56922	MCCC1	HP:0001263	Global developmental delay
56922	MCCC1	HP:0001257	Spasticity
56922	MCCC1	HP:0001259	Coma
56922	MCCC1	HP:0001347	Hyperreflexia
56922	MCCC1	HP:0008872	Feeding difficulties in infancy
56922	MCCC1	HP:0000007	Autosomal recessive inheritance
56922	MCCC1	HP:0002013	Vomiting
56922	MCCC1	HP:0002093	Respiratory insufficiency
56922	MCCC1	HP:0033111	3-hydroxyisovaleric aciduria
56922	MCCC1	HP:0002104	Apnea
56922	MCCC1	HP:0002179	Opisthotonus
56922	MCCC1	HP:0008281	Acute hyperammonemia
56922	MCCC1	HP:0003593	Infantile onset
56922	MCCC1	HP:0003581	Adult onset
56922	MCCC1	HP:0100659	Abnormal cerebral vascular morphology
56922	MCCC1	HP:0003621	Juvenile onset
56922	MCCC1	HP:0004911	Episodic metabolic acidosis
56922	MCCC1	HP:0001943	Hypoglycemia
56922	MCCC1	HP:0001992	Organic aciduria
56922	MCCC1	HP:0001987	Hyperammonemia
56922	MCCC1	HP:0004357	Abnormal circulating leucine concentration
56922	MCCC1	HP:0100022	Abnormality of movement
56922	MCCC1	HP:0001531	Failure to thrive in infancy
56922	MCCC1	HP:0001508	Failure to thrive
56922	MCCC1	HP:0006573	Acute hepatic steatosis
56922	MCCC1	HP:0002919	Ketonuria
56945	MRPS22	HP:0001166	Arachnodactyly
56945	MRPS22	HP:0009888	Abnormality of secondary sexual hair
56945	MRPS22	HP:0001290	Generalized hypotonia
56945	MRPS22	HP:0001250	Seizure
56945	MRPS22	HP:0001252	Hypotonia
56945	MRPS22	HP:0001251	Ataxia
56945	MRPS22	HP:0001263	Global developmental delay
56945	MRPS22	HP:0008684	Aplasia/hypoplasia of the uterus
56945	MRPS22	HP:0002510	Spastic tetraplegia
56945	MRPS22	HP:0000091	Abnormal renal tubule morphology
56945	MRPS22	HP:0000062	Ambiguous genitalia
56945	MRPS22	HP:0000013	Hypoplasia of the uterus
56945	MRPS22	HP:0000007	Autosomal recessive inheritance
56945	MRPS22	HP:0000144	Decreased fertility
56945	MRPS22	HP:0008936	Axial hypotonia
56945	MRPS22	HP:0000133	Gonadal dysgenesis
56945	MRPS22	HP:0002750	Delayed skeletal maturation
56945	MRPS22	HP:0005989	Redundant neck skin
56945	MRPS22	HP:0002079	Hypoplasia of the corpus callosum
56945	MRPS22	HP:0010464	Streak ovary
56945	MRPS22	HP:0002151	Increased serum lactate
56945	MRPS22	HP:0011924	Decreased activity of mitochondrial complex III
56945	MRPS22	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
56945	MRPS22	HP:0011923	Decreased activity of mitochondrial complex I
56945	MRPS22	HP:0008209	Premature ovarian insufficiency
56945	MRPS22	HP:0008214	Decreased serum estradiol
56945	MRPS22	HP:0003577	Congenital onset
56945	MRPS22	HP:0002225	Sparse pubic hair
56945	MRPS22	HP:0002206	Pulmonary fibrosis
56945	MRPS22	HP:0008347	Decreased activity of mitochondrial complex IV
56945	MRPS22	HP:0002352	Leukoencephalopathy
56945	MRPS22	HP:0001942	Metabolic acidosis
56945	MRPS22	HP:0001939	Abnormality of metabolism/homeostasis
56945	MRPS22	HP:0001987	Hyperammonemia
56945	MRPS22	HP:0004322	Short stature
56945	MRPS22	HP:0005625	Osteoporosis of vertebrae
56945	MRPS22	HP:0030674	Antenatal onset
56945	MRPS22	HP:0034197	Third trimester onset
56945	MRPS22	HP:0004349	Reduced bone mineral density
56945	MRPS22	HP:0000786	Primary amenorrhea
56945	MRPS22	HP:0003128	Lactic acidosis
56945	MRPS22	HP:0000869	Secondary amenorrhea
56945	MRPS22	HP:0000837	Increased circulating gonadotropin level
56945	MRPS22	HP:0000823	Delayed puberty
56945	MRPS22	HP:0010311	Aplasia/Hypoplasia of the breasts
56945	MRPS22	HP:0000969	Edema
56945	MRPS22	HP:0000938	Osteopenia
56945	MRPS22	HP:0000278	Retrognathia
56945	MRPS22	HP:0000252	Microcephaly
56945	MRPS22	HP:0001522	Death in infancy
56945	MRPS22	HP:0001541	Ascites
56945	MRPS22	HP:0001510	Growth delay
56945	MRPS22	HP:0025672	Fetal skin edema
56945	MRPS22	HP:0000365	Hearing impairment
56945	MRPS22	HP:0000358	Posteriorly rotated ears
56945	MRPS22	HP:0000369	Low-set ears
56945	MRPS22	HP:0001639	Hypertrophic cardiomyopathy
56945	MRPS22	HP:0012448	Delayed myelination
56947	MFF	HP:0025112	Auditory sensitivity
56947	MFF	HP:0001272	Cerebellar atrophy
56947	MFF	HP:0001270	Motor delay
56947	MFF	HP:0001250	Seizure
56947	MFF	HP:0001252	Hypotonia
56947	MFF	HP:0001263	Global developmental delay
56947	MFF	HP:0001257	Spasticity
56947	MFF	HP:0002540	Inability to walk
56947	MFF	HP:0002521	Hypsarrhythmia
56947	MFF	HP:0003819	Death in childhood
56947	MFF	HP:0001347	Hyperreflexia
56947	MFF	HP:0012087	Abnormal mitochondrial shape
56947	MFF	HP:0001324	Muscle weakness
56947	MFF	HP:0001344	Absent speech
56947	MFF	HP:0000007	Autosomal recessive inheritance
56947	MFF	HP:0002015	Dysphagia
56947	MFF	HP:0040288	Nasogastric tube feeding
56947	MFF	HP:0003593	Infantile onset
56947	MFF	HP:0011968	Feeding difficulties
56947	MFF	HP:0002376	Developmental regression
56947	MFF	HP:0003676	Progressive
56947	MFF	HP:0002353	EEG abnormality
56947	MFF	HP:0009830	Peripheral neuropathy
56947	MFF	HP:0000649	Abnormality of visual evoked potentials
56947	MFF	HP:0000648	Optic atrophy
56947	MFF	HP:0009062	Infantile axial hypotonia
56947	MFF	HP:0012696	Abnormal thalamic MRI signal intensity
56947	MFF	HP:0004302	Functional motor deficit
56947	MFF	HP:0012751	Abnormal basal ganglia MRI signal intensity
56947	MFF	HP:0000758	Abnormal nonverbal communicative behavior
56947	MFF	HP:0012736	Profound global developmental delay
56947	MFF	HP:0000762	Decreased nerve conduction velocity
56947	MFF	HP:0001510	Growth delay
56947	MFF	HP:0011097	Epileptic spasm
56947	MFF	HP:0005484	Secondary microcephaly
56947	MFF	HP:0000505	Visual impairment
56947	MFF	HP:0000543	Optic disc pallor
56947	MFF	HP:0000544	External ophthalmoplegia
56975	FAM20C	HP:0001156	Brachydactyly
56975	FAM20C	HP:0009939	Mandibular aplasia
56975	FAM20C	HP:0001263	Global developmental delay
56975	FAM20C	HP:0002553	Highly arched eyebrow
56975	FAM20C	HP:0002514	Cerebral calcification
56975	FAM20C	HP:0003811	Neonatal death
56975	FAM20C	HP:0000072	Hydroureter
56975	FAM20C	HP:0001357	Plagiocephaly
56975	FAM20C	HP:0000007	Autosomal recessive inheritance
56975	FAM20C	HP:0000160	Narrow mouth
56975	FAM20C	HP:0000175	Cleft palate
56975	FAM20C	HP:0000169	Gingival fibromatosis
56975	FAM20C	HP:0000154	Wide mouth
56975	FAM20C	HP:0006297	Enamel hypoplasia
56975	FAM20C	HP:0000126	Hydronephrosis
56975	FAM20C	HP:0011800	Midface retrusion
56975	FAM20C	HP:0002089	Pulmonary hypoplasia
56975	FAM20C	HP:0002098	Respiratory distress
56975	FAM20C	HP:0002094	Dyspnea
56975	FAM20C	HP:0002148	Hypophosphatemia
56975	FAM20C	HP:0003577	Congenital onset
56975	FAM20C	HP:0008501	Median cleft lip and palate
56975	FAM20C	HP:0010808	Protruding tongue
56975	FAM20C	HP:0000695	Natal tooth
56975	FAM20C	HP:0000691	Microdontia
56975	FAM20C	HP:0004322	Short stature
56975	FAM20C	HP:0000767	Pectus excavatum
56975	FAM20C	HP:0003196	Short nose
56975	FAM20C	HP:0003155	Elevated circulating alkaline phosphatase concentration
56975	FAM20C	HP:0000278	Retrognathia
56975	FAM20C	HP:0000270	Delayed cranial suture closure
56975	FAM20C	HP:0000272	Malar flattening
56975	FAM20C	HP:0002804	Arthrogryposis multiplex congenita
56975	FAM20C	HP:0000244	Brachyturricephaly
56975	FAM20C	HP:0000239	Large fontanelles
56975	FAM20C	HP:0000238	Hydrocephalus
56975	FAM20C	HP:0000252	Microcephaly
56975	FAM20C	HP:0000248	Brachycephaly
56975	FAM20C	HP:0002878	Respiratory failure
56975	FAM20C	HP:0000218	High palate
56975	FAM20C	HP:0000212	Gingival overgrowth
56975	FAM20C	HP:0001522	Death in infancy
56975	FAM20C	HP:0001511	Intrauterine growth retardation
56975	FAM20C	HP:0000377	Abnormal pinna morphology
56975	FAM20C	HP:0005257	Thoracic hypoplasia
56975	FAM20C	HP:0006487	Bowing of the long bones
56975	FAM20C	HP:0000358	Posteriorly rotated ears
56975	FAM20C	HP:0000369	Low-set ears
56975	FAM20C	HP:0011001	Increased bone mineral density
56975	FAM20C	HP:0000347	Micrognathia
56975	FAM20C	HP:0002983	Micromelia
56975	FAM20C	HP:0000316	Hypertelorism
56975	FAM20C	HP:0031485	Subperiosteal bone formation
56975	FAM20C	HP:0000303	Mandibular prognathia
56975	FAM20C	HP:0005280	Depressed nasal bridge
56975	FAM20C	HP:0000494	Downslanted palpebral fissures
56975	FAM20C	HP:0000463	Anteverted nares
56975	FAM20C	HP:0000457	Depressed nasal ridge
56975	FAM20C	HP:0000470	Short neck
56975	FAM20C	HP:0000453	Choanal atresia
56975	FAM20C	HP:0000452	Choanal stenosis
56975	FAM20C	HP:0000411	Protruding ear
56975	FAM20C	HP:0000410	Mixed hearing impairment
56975	FAM20C	HP:0001847	Long hallux
56975	FAM20C	HP:0000520	Proptosis
56978	PRDM8	HP:0002497	Spastic ataxia
56978	PRDM8	HP:0001268	Mental deterioration
56978	PRDM8	HP:0001289	Confusion
56978	PRDM8	HP:0001285	Spastic tetraparesis
56978	PRDM8	HP:0001250	Seizure
56978	PRDM8	HP:0001251	Ataxia
56978	PRDM8	HP:0001260	Dysarthria
56978	PRDM8	HP:0001257	Spasticity
56978	PRDM8	HP:0003828	Variable expressivity
56978	PRDM8	HP:0002510	Spastic tetraplegia
56978	PRDM8	HP:0000020	Urinary incontinence
56978	PRDM8	HP:0001347	Hyperreflexia
56978	PRDM8	HP:0000007	Autosomal recessive inheritance
56978	PRDM8	HP:0001336	Myoclonus
56978	PRDM8	HP:0100543	Cognitive impairment
56978	PRDM8	HP:0002073	Progressive cerebellar ataxia
56978	PRDM8	HP:0002123	Generalized myoclonic seizure
56978	PRDM8	HP:0011999	Paranoia
56978	PRDM8	HP:0003676	Progressive
56978	PRDM8	HP:0002300	Mutism
56978	PRDM8	HP:0000738	Hallucinations
56978	PRDM8	HP:0000726	Dementia
56978	PRDM8	HP:0000709	Psychosis
56978	PRDM8	HP:0000708	Atypical behavior
56978	PRDM8	HP:0100318	Lafora bodies
56983	POGLUT1	HP:0001155	Abnormality of the hand
56983	POGLUT1	HP:0025114	Hypergranulosis
56983	POGLUT1	HP:0001231	Abnormal fingernail morphology
56983	POGLUT1	HP:0032341	Reduced forced vital capacity
56983	POGLUT1	HP:0001369	Arthritis
56983	POGLUT1	HP:0007456	Progressive reticulate hyperpigmentation
56983	POGLUT1	HP:0000007	Autosomal recessive inheritance
56983	POGLUT1	HP:0000006	Autosomal dominant inheritance
56983	POGLUT1	HP:0025473	Hyperpigmented papule
56983	POGLUT1	HP:0008994	Proximal muscle weakness in lower limbs
56983	POGLUT1	HP:0031293	Digital pitting scar
56983	POGLUT1	HP:0002093	Respiratory insufficiency
56983	POGLUT1	HP:0002091	Restrictive ventilatory defect
56983	POGLUT1	HP:0002046	Heat intolerance
56983	POGLUT1	HP:0003581	Adult onset
56983	POGLUT1	HP:0010610	Palmar pits
56983	POGLUT1	HP:0020073	Hypopigmented macule
56983	POGLUT1	HP:0001034	Hypermelanotic macule
56983	POGLUT1	HP:0003691	Scapular winging
56983	POGLUT1	HP:0003677	Slowly progressive
56983	POGLUT1	HP:0025092	Epidermal acanthosis
56983	POGLUT1	HP:0200037	Skin vesicle
56983	POGLUT1	HP:0200034	Papule
56983	POGLUT1	HP:0200040	Epidermoid cyst
56983	POGLUT1	HP:0011354	Generalized abnormality of skin
56983	POGLUT1	HP:0011462	Young adult onset
56983	POGLUT1	HP:0009123	Mixed hypo- and hyperpigmentation of the skin
56983	POGLUT1	HP:0012855	Scrotal hyperpigmentation
56983	POGLUT1	HP:0003236	Elevated circulating creatine kinase concentration
56983	POGLUT1	HP:0045059	Hyperkeratotic papule
56983	POGLUT1	HP:0000989	Pruritus
56983	POGLUT1	HP:0000962	Hyperkeratosis
56983	POGLUT1	HP:0040154	Acne inversa
56983	POGLUT1	HP:0030052	Inguinal freckling
56983	POGLUT1	HP:0031525	Keratoacanthoma
56983	POGLUT1	HP:0006536	Airway obstruction
56983	POGLUT1	HP:0031447	Penile freckling
56983	POGLUT1	HP:0000464	Abnormality of the neck
56983	POGLUT1	HP:0030442	Anal margin squamous cell carcinoma
56983	POGLUT1	HP:0006785	Limb-girdle muscular dystrophy
56983	POGLUT1	HP:0030350	Erythematous papule
56983	POGLUT1	HP:0012548	Fatty replacement of skeletal muscle
56984	PSMG2	HP:0001270	Motor delay
56984	PSMG2	HP:0001371	Flexion contracture
56984	PSMG2	HP:0000007	Autosomal recessive inheritance
56984	PSMG2	HP:0002716	Lymphadenopathy
56984	PSMG2	HP:0002135	Basal ganglia calcification
56984	PSMG2	HP:0003593	Infantile onset
56984	PSMG2	HP:0002240	Hepatomegaly
56984	PSMG2	HP:0033331	Acute phase response
56984	PSMG2	HP:0100614	Myositis
56984	PSMG2	HP:0010783	Erythema
56984	PSMG2	HP:0001954	Recurrent fever
56984	PSMG2	HP:0009064	Generalized lipodystrophy
56984	PSMG2	HP:0000750	Delayed speech and language development
56984	PSMG2	HP:0003202	Skeletal muscle atrophy
56984	PSMG2	HP:0000969	Edema
56984	PSMG2	HP:0012490	Panniculitis
56984	PSMG2	HP:0001744	Splenomegaly
56984	PSMG2	HP:0001890	Autoimmune hemolytic anemia
56992	KIF15	HP:0001156	Brachydactyly
56992	KIF15	HP:0002465	Poor speech
56992	KIF15	HP:0001106	Periorbital hyperpigmentation
56992	KIF15	HP:0008551	Microtia
56992	KIF15	HP:0003763	Bruxism
56992	KIF15	HP:0001274	Agenesis of corpus callosum
56992	KIF15	HP:0001250	Seizure
56992	KIF15	HP:0001249	Intellectual disability
56992	KIF15	HP:0002557	Hypoplastic nipples
56992	KIF15	HP:0008897	Postnatal growth retardation
56992	KIF15	HP:0008872	Feeding difficulties in infancy
56992	KIF15	HP:0001344	Absent speech
56992	KIF15	HP:0000007	Autosomal recessive inheritance
56992	KIF15	HP:0012172	Stereotypical body rocking
56992	KIF15	HP:0000179	Thick lower lip vermilion
56992	KIF15	HP:0000175	Cleft palate
56992	KIF15	HP:0000154	Wide mouth
56992	KIF15	HP:0008947	Infantile muscular hypotonia
56992	KIF15	HP:0002750	Delayed skeletal maturation
56992	KIF15	HP:0002714	Downturned corners of mouth
56992	KIF15	HP:0011800	Midface retrusion
56992	KIF15	HP:0009597	Short proximal phalanx of the 2nd finger
56992	KIF15	HP:0003577	Congenital onset
56992	KIF15	HP:0100703	Tongue thrusting
56992	KIF15	HP:0100716	Self-injurious behavior
56992	KIF15	HP:0008404	Nail dystrophy
56992	KIF15	HP:0002307	Drooling
56992	KIF15	HP:0005548	Megakaryocytopenia
56992	KIF15	HP:0001903	Anemia
56992	KIF15	HP:0011344	Severe global developmental delay
56992	KIF15	HP:0000678	Dental crowding
56992	KIF15	HP:0001999	Abnormal facial shape
56992	KIF15	HP:0004322	Short stature
56992	KIF15	HP:0006979	Sleep-wake cycle disturbance
56992	KIF15	HP:0003086	Acromesomelia
56992	KIF15	HP:0012745	Short palpebral fissure
56992	KIF15	HP:0000752	Hyperactivity
56992	KIF15	HP:0000708	Atypical behavior
56992	KIF15	HP:0030799	Scaphocephaly
56992	KIF15	HP:0009226	Short proximal phalanx of the 5th finger
56992	KIF15	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
56992	KIF15	HP:0000958	Dry skin
56992	KIF15	HP:0000960	Sacral dimple
56992	KIF15	HP:0000280	Coarse facial features
56992	KIF15	HP:0000278	Retrognathia
56992	KIF15	HP:0030084	Clinodactyly
56992	KIF15	HP:0000252	Microcephaly
56992	KIF15	HP:0000219	Thin upper lip vermilion
56992	KIF15	HP:0001531	Failure to thrive in infancy
56992	KIF15	HP:0000201	Pierre-Robin sequence
56992	KIF15	HP:0012385	Camptodactyly
56992	KIF15	HP:0007874	Almond-shaped palpebral fissure
56992	KIF15	HP:0000365	Hearing impairment
56992	KIF15	HP:0000369	Low-set ears
56992	KIF15	HP:0000319	Smooth philtrum
56992	KIF15	HP:0000316	Hypertelorism
56992	KIF15	HP:0000311	Round face
56992	KIF15	HP:0001631	Atrial septal defect
56992	KIF15	HP:0000403	Recurrent otitis media
56992	KIF15	HP:0030215	Inappropriate crying
56992	KIF15	HP:0000486	Strabismus
56992	KIF15	HP:0012471	Thick vermilion border
56992	KIF15	HP:0000494	Downslanted palpebral fissures
56992	KIF15	HP:0001792	Small nail
56992	KIF15	HP:0000463	Anteverted nares
56992	KIF15	HP:0000414	Bulbous nose
56992	KIF15	HP:0000413	Atresia of the external auditory canal
56992	KIF15	HP:0000568	Microphthalmia
56992	KIF15	HP:0001873	Thrombocytopenia
56997	COQ8A	HP:0002490	Increased CSF lactate
56997	COQ8A	HP:0007256	Abnormal pyramidal sign
56997	COQ8A	HP:0003701	Proximal muscle weakness
56997	COQ8A	HP:0001272	Cerebellar atrophy
56997	COQ8A	HP:0001250	Seizure
56997	COQ8A	HP:0001252	Hypotonia
56997	COQ8A	HP:0001251	Ataxia
56997	COQ8A	HP:0001249	Intellectual disability
56997	COQ8A	HP:0001263	Global developmental delay
56997	COQ8A	HP:0001348	Brisk reflexes
56997	COQ8A	HP:0001347	Hyperreflexia
56997	COQ8A	HP:0001332	Dystonia
56997	COQ8A	HP:0000007	Autosomal recessive inheritance
56997	COQ8A	HP:0001337	Tremor
56997	COQ8A	HP:0001336	Myoclonus
56997	COQ8A	HP:0008936	Axial hypotonia
56997	COQ8A	HP:0004696	Talipes cavus equinovarus
56997	COQ8A	HP:0002073	Progressive cerebellar ataxia
56997	COQ8A	HP:0002151	Increased serum lactate
56997	COQ8A	HP:0003457	EMG abnormality
56997	COQ8A	HP:0003593	Infantile onset
56997	COQ8A	HP:0003546	Exercise intolerance
56997	COQ8A	HP:0002376	Developmental regression
56997	COQ8A	HP:0002342	Intellectual disability, moderate
56997	COQ8A	HP:0010818	Generalized tonic seizure
56997	COQ8A	HP:0000771	Gynecomastia
56997	COQ8A	HP:0011463	Childhood onset
56997	COQ8A	HP:0012758	Neurodevelopmental delay
56997	COQ8A	HP:0012752	Focal T2 hypointense basal ganglia lesion
56997	COQ8A	HP:0003128	Lactic acidosis
56997	COQ8A	HP:0012847	Epilepsia partialis continua
56997	COQ8A	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle
56997	COQ8A	HP:0012240	Increased intramyocellular lipid droplets
56997	COQ8A	HP:0032653	Elevated lactate:pyruvate ratio
56997	COQ8A	HP:0000365	Hearing impairment
56997	COQ8A	HP:0000486	Strabismus
56997	COQ8A	HP:0001761	Pes cavus
56997	COQ8A	HP:0000508	Ptosis
57003	CCDC47	HP:0020206	Simple ear
57003	CCDC47	HP:0001250	Seizure
57003	CCDC47	HP:0001252	Hypotonia
57003	CCDC47	HP:0001265	Hyporeflexia
57003	CCDC47	HP:0002557	Hypoplastic nipples
57003	CCDC47	HP:0002570	Steatorrhea
57003	CCDC47	HP:0001385	Hip dysplasia
57003	CCDC47	HP:0001388	Joint laxity
57003	CCDC47	HP:0001347	Hyperreflexia
57003	CCDC47	HP:0001357	Plagiocephaly
57003	CCDC47	HP:0033725	Thin corpus callosum
57003	CCDC47	HP:0001344	Absent speech
57003	CCDC47	HP:0000007	Autosomal recessive inheritance
57003	CCDC47	HP:0002650	Scoliosis
57003	CCDC47	HP:0001321	Cerebellar hypoplasia
57003	CCDC47	HP:0000158	Macroglossia
57003	CCDC47	HP:0000154	Wide mouth
57003	CCDC47	HP:0001410	Decreased liver function
57003	CCDC47	HP:0002719	Recurrent infections
57003	CCDC47	HP:0002714	Downturned corners of mouth
57003	CCDC47	HP:0002721	Immunodeficiency
57003	CCDC47	HP:0002020	Gastroesophageal reflux
57003	CCDC47	HP:0002028	Chronic diarrhea
57003	CCDC47	HP:0011800	Midface retrusion
57003	CCDC47	HP:0002059	Cerebral atrophy
57003	CCDC47	HP:0003438	Absent Achilles reflex
57003	CCDC47	HP:0011914	Thoracic hypertrichosis
57003	CCDC47	HP:0010536	Central sleep apnea
57003	CCDC47	HP:0010502	Fibular bowing
57003	CCDC47	HP:0002240	Hepatomegaly
57003	CCDC47	HP:0100704	Cerebral visual impairment
57003	CCDC47	HP:0002224	Woolly hair
57003	CCDC47	HP:0002212	Curly hair
57003	CCDC47	HP:0002208	Coarse hair
57003	CCDC47	HP:0010665	Bilateral coxa valga
57003	CCDC47	HP:0011968	Feeding difficulties
57003	CCDC47	HP:0002353	EEG abnormality
57003	CCDC47	HP:0001081	Cholelithiasis
57003	CCDC47	HP:0004209	Clinodactyly of the 5th finger
57003	CCDC47	HP:0011344	Severe global developmental delay
57003	CCDC47	HP:0000678	Dental crowding
57003	CCDC47	HP:0000691	Microdontia
57003	CCDC47	HP:0000687	Widely spaced teeth
57003	CCDC47	HP:0000656	Ectropion
57003	CCDC47	HP:0000664	Synophrys
57003	CCDC47	HP:0004325	Decreased body weight
57003	CCDC47	HP:0005684	Distal arthrogryposis
57003	CCDC47	HP:0000767	Pectus excavatum
57003	CCDC47	HP:0100027	Recurrent pancreatitis
57003	CCDC47	HP:0000774	Narrow chest
57003	CCDC47	HP:0003155	Elevated circulating alkaline phosphatase concentration
57003	CCDC47	HP:0000821	Hypothyroidism
57003	CCDC47	HP:0000989	Pruritus
57003	CCDC47	HP:0000286	Epicanthus
57003	CCDC47	HP:0000280	Coarse facial features
57003	CCDC47	HP:0002827	Hip dislocation
57003	CCDC47	HP:0000252	Microcephaly
57003	CCDC47	HP:0000248	Brachycephaly
57003	CCDC47	HP:0012202	Increased serum bile acid concentration
57003	CCDC47	HP:0000218	High palate
57003	CCDC47	HP:0001561	Polyhydramnios
57003	CCDC47	HP:0001558	Decreased fetal movement
57003	CCDC47	HP:0002870	Obstructive sleep apnea
57003	CCDC47	HP:0007874	Almond-shaped palpebral fissure
57003	CCDC47	HP:0000369	Low-set ears
57003	CCDC47	HP:0000341	Narrow forehead
57003	CCDC47	HP:0000316	Hypertelorism
57003	CCDC47	HP:0001643	Patent ductus arteriosus
57003	CCDC47	HP:0001629	Ventricular septal defect
57003	CCDC47	HP:0001622	Premature birth
57003	CCDC47	HP:0001738	Exocrine pancreatic insufficiency
57003	CCDC47	HP:0000403	Recurrent otitis media
57003	CCDC47	HP:0000483	Astigmatism
57003	CCDC47	HP:0012471	Thick vermilion border
57003	CCDC47	HP:0001773	Short foot
57003	CCDC47	HP:0000414	Bulbous nose
57003	CCDC47	HP:0001744	Splenomegaly
57003	CCDC47	HP:0001762	Talipes equinovarus
57003	CCDC47	HP:0001845	Overlapping toe
57003	CCDC47	HP:0000527	Long eyelashes
57003	CCDC47	HP:0000508	Ptosis
57003	CCDC47	HP:0000540	Hypermetropia
57007	ACKR3	HP:0009921	Duane anomaly
57007	ACKR3	HP:0000007	Autosomal recessive inheritance
57007	ACKR3	HP:0033851	Oculomotor synkinesis
57007	ACKR3	HP:0003577	Congenital onset
57007	ACKR3	HP:0000508	Ptosis
57010	CABP4	HP:0025237	Confusional arousal
57010	CABP4	HP:0025236	Somnambulism
57010	CABP4	HP:0025235	Non-rapid eye movement parasomnia
57010	CABP4	HP:0001256	Intellectual disability, mild
57010	CABP4	HP:0000020	Urinary incontinence
57010	CABP4	HP:0001345	Psychotic mentation
57010	CABP4	HP:0000007	Autosomal recessive inheritance
57010	CABP4	HP:0007663	Reduced visual acuity
57010	CABP4	HP:0007642	Congenital stationary night blindness
57010	CABP4	HP:0100543	Cognitive impairment
57010	CABP4	HP:0002069	Bilateral tonic-clonic seizure
57010	CABP4	HP:0002268	Paroxysmal dystonia
57010	CABP4	HP:0007018	Attention deficit hyperactivity disorder
57010	CABP4	HP:0000639	Nystagmus
57010	CABP4	HP:0000613	Photophobia
57010	CABP4	HP:0030469	Abnormal dark-adapted electroretinogram
57010	CABP4	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
57010	CABP4	HP:0000662	Nyctalopia
57010	CABP4	HP:0031951	Nocturnal seizures
57010	CABP4	HP:0030639	Congenital stationary night blindness with abnormal fundus
57010	CABP4	HP:0030638	Congenital stationary night blindness with normal fundus
57010	CABP4	HP:0004305	Involuntary movements
57010	CABP4	HP:0000739	Anxiety
57010	CABP4	HP:0000733	Abnormal repetitive mannerisms
57010	CABP4	HP:0000716	Depression
57010	CABP4	HP:0000708	Atypical behavior
57010	CABP4	HP:0007703	Abnormality of retinal pigmentation
57010	CABP4	HP:0002883	Hyperventilation
57010	CABP4	HP:0031535	Increased theta frequency activity in EEG
57010	CABP4	HP:0011193	EEG with focal spikes
57010	CABP4	HP:0011182	Interictal epileptiform activity
57010	CABP4	HP:0011174	Focal hyperkinetic seizure
57010	CABP4	HP:0030329	Retinal thinning
57010	CABP4	HP:0007984	Electronegative electroretinogram
57010	CABP4	HP:0000486	Strabismus
57010	CABP4	HP:0031589	Suicidal ideation
57010	CABP4	HP:0031705	Compensatory head posture
57010	CABP4	HP:0000505	Visual impairment
57010	CABP4	HP:0000540	Hypermetropia
57010	CABP4	HP:0000551	Color vision defect
57010	CABP4	HP:0000545	Myopia
57017	COQ9	HP:0001298	Encephalopathy
57017	COQ9	HP:0001290	Generalized hypotonia
57017	COQ9	HP:0001276	Hypertonia
57017	COQ9	HP:0001272	Cerebellar atrophy
57017	COQ9	HP:0001250	Seizure
57017	COQ9	HP:0001252	Hypotonia
57017	COQ9	HP:0001263	Global developmental delay
57017	COQ9	HP:0001347	Hyperreflexia
57017	COQ9	HP:0001332	Dystonia
57017	COQ9	HP:0000007	Autosomal recessive inheritance
57017	COQ9	HP:0003348	Hyperalaninemia
57017	COQ9	HP:0002093	Respiratory insufficiency
57017	COQ9	HP:0002045	Hypothermia
57017	COQ9	HP:0002059	Cerebral atrophy
57017	COQ9	HP:0002151	Increased serum lactate
57017	COQ9	HP:0011968	Feeding difficulties
57017	COQ9	HP:0003623	Neonatal onset
57017	COQ9	HP:0003128	Lactic acidosis
57017	COQ9	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle
57017	COQ9	HP:0001511	Intrauterine growth retardation
57017	COQ9	HP:0001612	Weak cry
57017	COQ9	HP:0001662	Bradycardia
57017	COQ9	HP:0001712	Left ventricular hypertrophy
57017	COQ9	HP:0005484	Secondary microcephaly
57020	VPS35L	HP:0001249	Intellectual disability
57020	VPS35L	HP:0006118	Shortening of all distal phalanges of the fingers
57020	VPS35L	HP:0100856	Poorly ossified vertebrae
57020	VPS35L	HP:0032388	Periventricular nodular heterotopia
57020	VPS35L	HP:0002553	Highly arched eyebrow
57020	VPS35L	HP:0025336	Delayed ability to sit
57020	VPS35L	HP:0000028	Cryptorchidism
57020	VPS35L	HP:0008897	Postnatal growth retardation
57020	VPS35L	HP:0000007	Autosomal recessive inheritance
57020	VPS35L	HP:0001320	Cerebellar vermis hypoplasia
57020	VPS35L	HP:0003577	Congenital onset
57020	VPS35L	HP:0010655	Epiphyseal stippling
57020	VPS35L	HP:0002384	Focal impaired awareness seizure
57020	VPS35L	HP:0010034	Short 1st metacarpal
57020	VPS35L	HP:0011344	Severe global developmental delay
57020	VPS35L	HP:0003031	Ulnar bowing
57020	VPS35L	HP:0003022	Hypoplasia of the ulna
57020	VPS35L	HP:0010105	Short first metatarsal
57020	VPS35L	HP:0004482	Relative macrocephaly
57020	VPS35L	HP:0000260	Wide anterior fontanel
57020	VPS35L	HP:0000219	Thin upper lip vermilion
57020	VPS35L	HP:0001522	Death in infancy
57020	VPS35L	HP:0000347	Micrognathia
57020	VPS35L	HP:0000316	Hypertelorism
57020	VPS35L	HP:0032989	Delayed ability to roll over
57020	VPS35L	HP:0006695	Atrioventricular canal defect
57020	VPS35L	HP:0000494	Downslanted palpebral fissures
57020	VPS35L	HP:0000463	Anteverted nares
57020	VPS35L	HP:0011220	Prominent forehead
57020	VPS35L	HP:0000568	Microphthalmia
57020	VPS35L	HP:0000567	Chorioretinal coloboma
57038	RARS2	HP:0002490	Increased CSF lactate
57038	RARS2	HP:0002421	Poor head control
57038	RARS2	HP:0001290	Generalized hypotonia
57038	RARS2	HP:0001272	Cerebellar atrophy
57038	RARS2	HP:0001254	Lethargy
57038	RARS2	HP:0001250	Seizure
57038	RARS2	HP:0001252	Hypotonia
57038	RARS2	HP:0001257	Spasticity
57038	RARS2	HP:0007366	Atrophy/Degeneration affecting the brainstem
57038	RARS2	HP:0003819	Death in childhood
57038	RARS2	HP:0001347	Hyperreflexia
57038	RARS2	HP:0001344	Absent speech
57038	RARS2	HP:0000007	Autosomal recessive inheritance
57038	RARS2	HP:0001320	Cerebellar vermis hypoplasia
57038	RARS2	HP:0001321	Cerebellar hypoplasia
57038	RARS2	HP:0000189	Narrow palate
57038	RARS2	HP:0008936	Axial hypotonia
57038	RARS2	HP:0002020	Gastroesophageal reflux
57038	RARS2	HP:0002033	Poor suck
57038	RARS2	HP:0002061	Lower limb spasticity
57038	RARS2	HP:0002059	Cerebral atrophy
57038	RARS2	HP:0002151	Increased serum lactate
57038	RARS2	HP:0002120	Cerebral cortical atrophy
57038	RARS2	HP:0002104	Apnea
57038	RARS2	HP:0011924	Decreased activity of mitochondrial complex III
57038	RARS2	HP:0011923	Decreased activity of mitochondrial complex I
57038	RARS2	HP:0002197	Generalized-onset seizure
57038	RARS2	HP:0003577	Congenital onset
57038	RARS2	HP:0008347	Decreased activity of mitochondrial complex IV
57038	RARS2	HP:0011968	Feeding difficulties
57038	RARS2	HP:0003676	Progressive
57038	RARS2	HP:0006986	Upper limb spasticity
57038	RARS2	HP:0012736	Profound global developmental delay
57038	RARS2	HP:0034391	Elbow contracture
57038	RARS2	HP:0034353	Appendicular spasticity
57038	RARS2	HP:0000253	Progressive microcephaly
57038	RARS2	HP:0000252	Microcephaly
57038	RARS2	HP:0001508	Failure to thrive
57038	RARS2	HP:0000341	Narrow forehead
57038	RARS2	HP:0000490	Deeply set eye
57038	RARS2	HP:0012444	Brain atrophy
57038	RARS2	HP:0000426	Prominent nasal bridge
57054	DAZ3	HP:0008734	Decreased testicular size
57054	DAZ3	HP:0008669	Abnormal spermatogenesis
57054	DAZ3	HP:0000028	Cryptorchidism
57054	DAZ3	HP:0000027	Azoospermia
57054	DAZ3	HP:0001450	Y-linked inheritance
57054	DAZ3	HP:0011961	Non-obstructive azoospermia
57054	DAZ3	HP:0011462	Young adult onset
57054	DAZ3	HP:0000798	Oligospermia
57054	DAZ3	HP:0003251	Male infertility
57055	DAZ2	HP:0008734	Decreased testicular size
57055	DAZ2	HP:0008669	Abnormal spermatogenesis
57055	DAZ2	HP:0000028	Cryptorchidism
57055	DAZ2	HP:0000027	Azoospermia
57055	DAZ2	HP:0001450	Y-linked inheritance
57055	DAZ2	HP:0011961	Non-obstructive azoospermia
57055	DAZ2	HP:0011462	Young adult onset
57055	DAZ2	HP:0000798	Oligospermia
57055	DAZ2	HP:0003251	Male infertility
57057	TBX20	HP:0001297	Stroke
57057	TBX20	HP:0001279	Syncope
57057	TBX20	HP:0000006	Autosomal dominant inheritance
57057	TBX20	HP:0002718	Recurrent bacterial infections
57057	TBX20	HP:0005957	Breathing dysregulation
57057	TBX20	HP:0002094	Dyspnea
57057	TBX20	HP:0002092	Pulmonary arterial hypertension
57057	TBX20	HP:0002090	Pneumonia
57057	TBX20	HP:0011710	Bundle branch block
57057	TBX20	HP:0011705	First degree atrioventricular block
57057	TBX20	HP:0004755	Supraventricular tachycardia
57057	TBX20	HP:0004749	Atrial flutter
57057	TBX20	HP:0003546	Exercise intolerance
57057	TBX20	HP:0002326	Transient ischemic attack
57057	TBX20	HP:0010741	Pedal edema
57057	TBX20	HP:0001962	Palpitations
57057	TBX20	HP:0012764	Orthopnea
57057	TBX20	HP:0030718	Right atrial enlargement
57057	TBX20	HP:0000961	Cyanosis
57057	TBX20	HP:0011675	Arrhythmia
57057	TBX20	HP:0012250	ST segment depression
57057	TBX20	HP:0005133	Right ventricular dilatation
57057	TBX20	HP:0005115	Supraventricular arrhythmia
57057	TBX20	HP:0005110	Atrial fibrillation
57057	TBX20	HP:0002875	Exertional dyspnea
57057	TBX20	HP:0012378	Fatigue
57057	TBX20	HP:0012382	Left-to-right shunt
57057	TBX20	HP:0006536	Airway obstruction
57057	TBX20	HP:0005180	Tricuspid regurgitation
57057	TBX20	HP:0005162	Abnormal left ventricular function
57057	TBX20	HP:0001680	Coarctation of aorta
57057	TBX20	HP:0001653	Mitral regurgitation
57057	TBX20	HP:0001655	Patent foramen ovale
57057	TBX20	HP:0001635	Congestive heart failure
57057	TBX20	HP:0001631	Atrial septal defect
57057	TBX20	HP:0001633	Abnormal mitral valve morphology
57057	TBX20	HP:0005317	Increased pulmonary vascular resistance
57057	TBX20	HP:0001708	Right ventricular failure
57057	TBX20	HP:0031664	Systolic heart murmur
57061	HYMAI	HP:0010866	Abdominal wall defect
57061	HYMAI	HP:0001250	Seizure
57061	HYMAI	HP:0001252	Hypotonia
57061	HYMAI	HP:0000065	Labial hypertrophy
57061	HYMAI	HP:0000077	Abnormality of the kidney
57061	HYMAI	HP:0000079	Abnormality of the urinary system
57061	HYMAI	HP:0001388	Joint laxity
57061	HYMAI	HP:0000028	Cryptorchidism
57061	HYMAI	HP:0008897	Postnatal growth retardation
57061	HYMAI	HP:0000006	Autosomal dominant inheritance
57061	HYMAI	HP:0002643	Neonatal respiratory distress
57061	HYMAI	HP:0000158	Macroglossia
57061	HYMAI	HP:0002123	Generalized myoclonic seizure
57061	HYMAI	HP:0008255	Transient neonatal diabetes mellitus
57061	HYMAI	HP:0002240	Hepatomegaly
57061	HYMAI	HP:0100767	Abnormal placenta morphology
57061	HYMAI	HP:0009800	Maternal diabetes
57061	HYMAI	HP:0004904	Maturity-onset diabetes of the young
57061	HYMAI	HP:0001944	Dehydration
57061	HYMAI	HP:0001953	Diabetic ketoacidosis
57061	HYMAI	HP:0003074	Hyperglycemia
57061	HYMAI	HP:0000707	Abnormality of the nervous system
57061	HYMAI	HP:0012758	Neurodevelopmental delay
57061	HYMAI	HP:0000857	Neonatal insulin-dependent diabetes mellitus
57061	HYMAI	HP:0000826	Precocious puberty
57061	HYMAI	HP:0000821	Hypothyroidism
57061	HYMAI	HP:0040064	Abnormality of limbs
57061	HYMAI	HP:0040216	Hypoinsulinemia
57061	HYMAI	HP:0000278	Retrognathia
57061	HYMAI	HP:0000271	Abnormality of the face
57061	HYMAI	HP:0000269	Prominent occiput
57061	HYMAI	HP:0030057	Autoimmune antibody positivity
57061	HYMAI	HP:0000237	Small anterior fontanelle
57061	HYMAI	HP:0000218	High palate
57061	HYMAI	HP:0000212	Gingival overgrowth
57061	HYMAI	HP:0001562	Oligohydramnios
57061	HYMAI	HP:0001525	Severe failure to thrive
57061	HYMAI	HP:0001537	Umbilical hernia
57061	HYMAI	HP:0001508	Failure to thrive
57061	HYMAI	HP:0001518	Small for gestational age
57061	HYMAI	HP:0001511	Intrauterine growth retardation
57061	HYMAI	HP:0000363	Abnormal earlobe morphology
57061	HYMAI	HP:0000365	Hearing impairment
57061	HYMAI	HP:0000347	Micrognathia
57061	HYMAI	HP:0001643	Patent ductus arteriosus
57061	HYMAI	HP:0001629	Ventricular septal defect
57061	HYMAI	HP:0001627	Abnormal heart morphology
57061	HYMAI	HP:0001640	Cardiomegaly
57061	HYMAI	HP:0000448	Prominent nose
57061	HYMAI	HP:0001804	Hypoplastic fingernail
57061	HYMAI	HP:0000586	Shallow orbits
57082	KNL1	HP:0010864	Intellectual disability, severe
57082	KNL1	HP:0001274	Agenesis of corpus callosum
57082	KNL1	HP:0001250	Seizure
57082	KNL1	HP:0001249	Intellectual disability
57082	KNL1	HP:0001263	Global developmental delay
57082	KNL1	HP:0007333	Hypoplasia of the frontal lobes
57082	KNL1	HP:0000076	Vesicoureteral reflux
57082	KNL1	HP:0001347	Hyperreflexia
57082	KNL1	HP:0000007	Autosomal recessive inheritance
57082	KNL1	HP:0001335	Bimanual synkinesia
57082	KNL1	HP:0001302	Pachygyria
57082	KNL1	HP:0001320	Cerebellar vermis hypoplasia
57082	KNL1	HP:0000122	Unilateral renal agenesis
57082	KNL1	HP:0002119	Ventriculomegaly
57082	KNL1	HP:0003577	Congenital onset
57082	KNL1	HP:0100710	Impulsivity
57082	KNL1	HP:0002282	Gray matter heterotopia
57082	KNL1	HP:0009765	Low hanging columella
57082	KNL1	HP:0000664	Synophrys
57082	KNL1	HP:0004322	Short stature
57082	KNL1	HP:0000750	Delayed speech and language development
57082	KNL1	HP:0000718	Aggressive behavior
57082	KNL1	HP:0011451	Primary microcephaly
57082	KNL1	HP:0003103	Abnormal cortical bone morphology
57082	KNL1	HP:0000252	Microcephaly
57082	KNL1	HP:0000219	Thin upper lip vermilion
57082	KNL1	HP:0001510	Growth delay
57082	KNL1	HP:0000340	Sloping forehead
57082	KNL1	HP:0000347	Micrognathia
57082	KNL1	HP:0000316	Hypertelorism
57082	KNL1	HP:0000582	Upslanted palpebral fissure
57082	KNL1	HP:0000574	Thick eyebrow
57094	CPA6	HP:0410170	Hippocampal atrophy
57094	CPA6	HP:0020216	Visually-induced seizure
57094	CPA6	HP:0010850	EEG with spike-wave complexes
57094	CPA6	HP:0001249	Intellectual disability
57094	CPA6	HP:0000007	Autosomal recessive inheritance
57094	CPA6	HP:0000006	Autosomal dominant inheritance
57094	CPA6	HP:0002069	Bilateral tonic-clonic seizure
57094	CPA6	HP:0002384	Focal impaired awareness seizure
57094	CPA6	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
57094	CPA6	HP:0002349	Focal aware seizure
57094	CPA6	HP:0003621	Juvenile onset
57094	CPA6	HP:0011463	Childhood onset
57096	RPGRIP1	HP:0001177	Preaxial hand polydactyly
57096	RPGRIP1	HP:0001162	Postaxial hand polydactyly
57096	RPGRIP1	HP:0001141	Severely reduced visual acuity
57096	RPGRIP1	HP:0001250	Seizure
57096	RPGRIP1	HP:0001252	Hypotonia
57096	RPGRIP1	HP:0001249	Intellectual disability
57096	RPGRIP1	HP:0001263	Global developmental delay
57096	RPGRIP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
57096	RPGRIP1	HP:0000068	Urethral atresia
57096	RPGRIP1	HP:0000062	Ambiguous genitalia
57096	RPGRIP1	HP:0000073	Ureteral duplication
57096	RPGRIP1	HP:0012043	Pendular nystagmus
57096	RPGRIP1	HP:0000037	Male pseudohermaphroditism
57096	RPGRIP1	HP:0000028	Cryptorchidism
57096	RPGRIP1	HP:0000007	Autosomal recessive inheritance
57096	RPGRIP1	HP:0000003	Multicystic kidney dysplasia
57096	RPGRIP1	HP:0001305	Dandy-Walker malformation
57096	RPGRIP1	HP:0002612	Congenital hepatic fibrosis
57096	RPGRIP1	HP:0000175	Cleft palate
57096	RPGRIP1	HP:0007688	Undetectable light- and dark-adapted electroretinogram
57096	RPGRIP1	HP:0007663	Reduced visual acuity
57096	RPGRIP1	HP:0002084	Encephalocele
57096	RPGRIP1	HP:0010459	True hermaphroditism
57096	RPGRIP1	HP:0002269	Abnormality of neuronal migration
57096	RPGRIP1	HP:0100732	Pancreatic fibrosis
57096	RPGRIP1	HP:0002323	Anencephaly
57096	RPGRIP1	HP:0008499	High hypermetropia
57096	RPGRIP1	HP:0006870	Lobar holoprosencephaly
57096	RPGRIP1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
57096	RPGRIP1	HP:0000639	Nystagmus
57096	RPGRIP1	HP:0000648	Optic atrophy
57096	RPGRIP1	HP:0000647	Sclerocornea
57096	RPGRIP1	HP:0000613	Photophobia
57096	RPGRIP1	HP:0000608	Macular degeneration
57096	RPGRIP1	HP:0000662	Nyctalopia
57096	RPGRIP1	HP:0030680	Abnormality of cardiovascular system morphology
57096	RPGRIP1	HP:0004374	Hemiplegia/hemiparesis
57096	RPGRIP1	HP:0012795	Abnormal optic disc morphology
57096	RPGRIP1	HP:0010295	Aplasia/Hypoplasia of the tongue
57096	RPGRIP1	HP:0008053	Aplasia/Hypoplasia of the iris
57096	RPGRIP1	HP:0007703	Abnormality of retinal pigmentation
57096	RPGRIP1	HP:0000293	Full cheeks
57096	RPGRIP1	HP:0000238	Hydrocephalus
57096	RPGRIP1	HP:0000252	Microcephaly
57096	RPGRIP1	HP:0000221	Furrowed tongue
57096	RPGRIP1	HP:0001562	Oligohydramnios
57096	RPGRIP1	HP:0007843	Attenuation of retinal blood vessels
57096	RPGRIP1	HP:0006487	Bowing of the long bones
57096	RPGRIP1	HP:0001696	Situs inversus totalis
57096	RPGRIP1	HP:0000365	Hearing impairment
57096	RPGRIP1	HP:0000368	Low-set, posteriorly rotated ears
57096	RPGRIP1	HP:0000340	Sloping forehead
57096	RPGRIP1	HP:0000347	Micrognathia
57096	RPGRIP1	HP:0000316	Hypertelorism
57096	RPGRIP1	HP:0001737	Pancreatic cysts
57096	RPGRIP1	HP:0000482	Microcornea
57096	RPGRIP1	HP:0000457	Depressed nasal ridge
57096	RPGRIP1	HP:0001746	Asplenia
57096	RPGRIP1	HP:0001747	Accessory spleen
57096	RPGRIP1	HP:0006706	Cystic liver disease
57096	RPGRIP1	HP:0000518	Cataract
57096	RPGRIP1	HP:0000512	Abnormal electroretinogram
57096	RPGRIP1	HP:0000528	Anophthalmia
57096	RPGRIP1	HP:0000505	Visual impairment
57096	RPGRIP1	HP:0001830	Postaxial foot polydactyly
57096	RPGRIP1	HP:0000563	Keratoconus
57096	RPGRIP1	HP:0000568	Microphthalmia
57096	RPGRIP1	HP:0000532	Abnormal chorioretinal morphology
57096	RPGRIP1	HP:0000550	Undetectable electroretinogram
57096	RPGRIP1	HP:0001883	Talipes
57096	RPGRIP1	HP:0000551	Color vision defect
57096	RPGRIP1	HP:0000548	Cone/cone-rod dystrophy
57102	C12orf4	HP:0100962	Shyness
57102	C12orf4	HP:0001290	Generalized hypotonia
57102	C12orf4	HP:0001252	Hypotonia
57102	C12orf4	HP:0001249	Intellectual disability
57102	C12orf4	HP:0001263	Global developmental delay
57102	C12orf4	HP:0001388	Joint laxity
57102	C12orf4	HP:0000007	Autosomal recessive inheritance
57102	C12orf4	HP:0002066	Gait ataxia
57102	C12orf4	HP:0007018	Attention deficit hyperactivity disorder
57102	C12orf4	HP:0001999	Abnormal facial shape
57102	C12orf4	HP:0000750	Delayed speech and language development
57102	C12orf4	HP:0000718	Aggressive behavior
57102	C12orf4	HP:0000729	Autistic behavior
57102	C12orf4	HP:0000286	Epicanthus
57104	PNPLA2	HP:0003749	Pelvic girdle muscle weakness
57104	PNPLA2	HP:0003756	Skeletal myopathy
57104	PNPLA2	HP:0003701	Proximal muscle weakness
57104	PNPLA2	HP:0001290	Generalized hypotonia
57104	PNPLA2	HP:0001270	Motor delay
57104	PNPLA2	HP:0001284	Areflexia
57104	PNPLA2	HP:0001256	Intellectual disability, mild
57104	PNPLA2	HP:0001252	Hypotonia
57104	PNPLA2	HP:0001249	Intellectual disability
57104	PNPLA2	HP:0003828	Variable expressivity
57104	PNPLA2	HP:0003805	Rimmed vacuoles
57104	PNPLA2	HP:0001397	Hepatic steatosis
57104	PNPLA2	HP:0000007	Autosomal recessive inheritance
57104	PNPLA2	HP:0025435	Increased circulating lactate dehydrogenase concentration
57104	PNPLA2	HP:0006280	Chronic pancreatitis
57104	PNPLA2	HP:0001430	Abnormality of the calf musculature
57104	PNPLA2	HP:0001435	Abnormality of the shoulder girdle musculature
57104	PNPLA2	HP:0003326	Myalgia
57104	PNPLA2	HP:0002094	Dyspnea
57104	PNPLA2	HP:0003391	Gowers sign
57104	PNPLA2	HP:0003388	Easy fatigability
57104	PNPLA2	HP:0008167	Very long chain fatty acid accumulation
57104	PNPLA2	HP:0002155	Hypertriglyceridemia
57104	PNPLA2	HP:0002240	Hepatomegaly
57104	PNPLA2	HP:0003581	Adult onset
57104	PNPLA2	HP:0003547	Shoulder girdle muscle weakness
57104	PNPLA2	HP:0003546	Exercise intolerance
57104	PNPLA2	HP:0002380	Fasciculations
57104	PNPLA2	HP:0002355	Difficulty walking
57104	PNPLA2	HP:0003677	Slowly progressive
57104	PNPLA2	HP:0009805	Low-output congestive heart failure
57104	PNPLA2	HP:0001082	Cholecystitis
57104	PNPLA2	HP:0032141	Precordial pain
57104	PNPLA2	HP:0009073	Progressive proximal muscle weakness
57104	PNPLA2	HP:0001962	Palpitations
57104	PNPLA2	HP:0001922	Vacuolated lymphocytes
57104	PNPLA2	HP:0009063	Progressive distal muscle weakness
57104	PNPLA2	HP:0009055	Generalized limb muscle atrophy
57104	PNPLA2	HP:0009058	Increased muscle lipid content
57104	PNPLA2	HP:0009046	Difficulty running
57104	PNPLA2	HP:0012683	Pineal cyst
57104	PNPLA2	HP:0009027	Foot dorsiflexor weakness
57104	PNPLA2	HP:0004322	Short stature
57104	PNPLA2	HP:0003077	Hyperlipidemia
57104	PNPLA2	HP:0031936	Delayed ability to walk
57104	PNPLA2	HP:0003198	Myopathy
57104	PNPLA2	HP:0000819	Diabetes mellitus
57104	PNPLA2	HP:0040081	Abnormal circulating creatine kinase concentration
57104	PNPLA2	HP:0003236	Elevated circulating creatine kinase concentration
57104	PNPLA2	HP:0008064	Ichthyosis
57104	PNPLA2	HP:0011675	Arrhythmia
57104	PNPLA2	HP:0012240	Increased intramyocellular lipid droplets
57104	PNPLA2	HP:0005145	Coronary artery stenosis
57104	PNPLA2	HP:0031331	Abnormal cardiomyocyte morphology
57104	PNPLA2	HP:0001513	Obesity
57104	PNPLA2	HP:0012379	Abnormal circulating enzyme concentration or activity
57104	PNPLA2	HP:0002910	Elevated hepatic transaminase
57104	PNPLA2	HP:0001681	Angina pectoris
57104	PNPLA2	HP:0001677	Coronary artery atherosclerosis
57104	PNPLA2	HP:0001635	Congestive heart failure
57104	PNPLA2	HP:0001638	Cardiomyopathy
57104	PNPLA2	HP:0000407	Sensorineural hearing impairment
57104	PNPLA2	HP:0001733	Pancreatitis
57104	PNPLA2	HP:0000478	Abnormality of the eye
57104	PNPLA2	HP:0030237	Hand muscle weakness
57104	PNPLA2	HP:0011123	Inflammatory abnormality of the skin
57104	PNPLA2	HP:0000467	Neck muscle weakness
57104	PNPLA2	HP:0001744	Splenomegaly
57104	PNPLA2	HP:0031684	Renal artery atherosclerosis
57104	PNPLA2	HP:0012548	Fatty replacement of skeletal muscle
57105	CYSLTR2	HP:0010920	Zonular cataract
57105	CYSLTR2	HP:0012055	Ciliary body melanoma
57105	CYSLTR2	HP:0012054	Choroidal melanoma
57105	CYSLTR2	HP:0100533	Inflammatory abnormality of the eye
57105	CYSLTR2	HP:0200026	Ocular pain
57105	CYSLTR2	HP:0001098	Abnormal fundus morphology
57105	CYSLTR2	HP:0008494	Inferior lens subluxation
57105	CYSLTR2	HP:0011499	Mydriasis
57105	CYSLTR2	HP:0030786	Photopsia
57105	CYSLTR2	HP:0011524	Iris melanoma
57105	CYSLTR2	HP:0030800	Abnormal visual accommodation
57105	CYSLTR2	HP:0007902	Vitreous hemorrhage
57105	CYSLTR2	HP:0007906	Ocular hypertension
57105	CYSLTR2	HP:0012508	Metamorphopsia
57105	CYSLTR2	HP:0000572	Visual loss
57105	CYSLTR2	HP:0000541	Retinal detachment
57105	CYSLTR2	HP:0000539	Abnormality of refraction
57107	PDSS2	HP:0002572	Episodic vomiting
57107	PDSS2	HP:0007430	Generalized edema
57107	PDSS2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
57107	PDSS2	HP:0000093	Proteinuria
57107	PDSS2	HP:0000007	Autosomal recessive inheritance
57107	PDSS2	HP:0001319	Neonatal hypotonia
57107	PDSS2	HP:0008947	Infantile muscular hypotonia
57107	PDSS2	HP:0000100	Nephrotic syndrome
57107	PDSS2	HP:0000107	Renal cyst
57107	PDSS2	HP:0002151	Increased serum lactate
57107	PDSS2	HP:0100704	Cerebral visual impairment
57107	PDSS2	HP:0011968	Feeding difficulties
57107	PDSS2	HP:0002376	Developmental regression
57107	PDSS2	HP:0003623	Neonatal onset
57107	PDSS2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
57107	PDSS2	HP:0004900	Severe lactic acidosis
57107	PDSS2	HP:0001970	Tubulointerstitial nephritis
57107	PDSS2	HP:0001947	Renal tubular acidosis
57107	PDSS2	HP:0003073	Hypoalbuminemia
57107	PDSS2	HP:0011471	Gastrostomy tube feeding in infancy
57107	PDSS2	HP:0000969	Edema
57107	PDSS2	HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle
57107	PDSS2	HP:0001562	Oligohydramnios
57107	PDSS2	HP:0032663	Focal motor status epilepticus
57107	PDSS2	HP:0001511	Intrauterine growth retardation
57107	PDSS2	HP:0001640	Cardiomegaly
57107	PDSS2	HP:0007965	Undetectable visual evoked potentials
57107	PDSS2	HP:0011193	EEG with focal spikes
57107	PDSS2	HP:0012597	Heavy proteinuria
57122	NUP107	HP:0001181	Adducted thumb
57122	NUP107	HP:0001166	Arachnodactyly
57122	NUP107	HP:0003774	Stage 5 chronic kidney disease
57122	NUP107	HP:0009944	Partial duplication of thumb phalanx
57122	NUP107	HP:0009888	Abnormality of secondary sexual hair
57122	NUP107	HP:0002410	Aqueductal stenosis
57122	NUP107	HP:0001276	Hypertonia
57122	NUP107	HP:0002586	Peritonitis
57122	NUP107	HP:0001250	Seizure
57122	NUP107	HP:0001252	Hypotonia
57122	NUP107	HP:0001251	Ataxia
57122	NUP107	HP:0001249	Intellectual disability
57122	NUP107	HP:0001263	Global developmental delay
57122	NUP107	HP:0008684	Aplasia/hypoplasia of the uterus
57122	NUP107	HP:0010978	Abnormality of immune system physiology
57122	NUP107	HP:0003828	Variable expressivity
57122	NUP107	HP:0000097	Focal segmental glomerulosclerosis
57122	NUP107	HP:0000093	Proteinuria
57122	NUP107	HP:0000092	Renal tubular atrophy
57122	NUP107	HP:0000062	Ambiguous genitalia
57122	NUP107	HP:0000013	Hypoplasia of the uterus
57122	NUP107	HP:0000007	Autosomal recessive inheritance
57122	NUP107	HP:0001302	Pachygyria
57122	NUP107	HP:0000164	Abnormality of the dentition
57122	NUP107	HP:0000175	Cleft palate
57122	NUP107	HP:0000144	Decreased fertility
57122	NUP107	HP:0410030	Cleft lip
57122	NUP107	HP:0000133	Gonadal dysgenesis
57122	NUP107	HP:0000100	Nephrotic syndrome
57122	NUP107	HP:0000112	Nephropathy
57122	NUP107	HP:0002751	Kyphoscoliosis
57122	NUP107	HP:0002750	Delayed skeletal maturation
57122	NUP107	HP:0002036	Hiatus hernia
57122	NUP107	HP:0002027	Abdominal pain
57122	NUP107	HP:0100539	Periorbital edema
57122	NUP107	HP:0100543	Cognitive impairment
57122	NUP107	HP:0008197	Absence of pubertal development
57122	NUP107	HP:0010464	Streak ovary
57122	NUP107	HP:0100490	Camptodactyly of finger
57122	NUP107	HP:0008209	Premature ovarian insufficiency
57122	NUP107	HP:0008214	Decreased serum estradiol
57122	NUP107	HP:0002269	Abnormality of neuronal migration
57122	NUP107	HP:0002225	Sparse pubic hair
57122	NUP107	HP:0002206	Pulmonary fibrosis
57122	NUP107	HP:0100720	Hypoplasia of the ear cartilage
57122	NUP107	HP:0011947	Respiratory tract infection
57122	NUP107	HP:0003676	Progressive
57122	NUP107	HP:0002353	EEG abnormality
57122	NUP107	HP:0002315	Headache
57122	NUP107	HP:0003621	Juvenile onset
57122	NUP107	HP:0012622	Chronic kidney disease
57122	NUP107	HP:0001967	Diffuse mesangial sclerosis
57122	NUP107	HP:0001945	Fever
57122	NUP107	HP:0001939	Abnormality of metabolism/homeostasis
57122	NUP107	HP:0000601	Hypotelorism
57122	NUP107	HP:0001999	Abnormal facial shape
57122	NUP107	HP:0004322	Short stature
57122	NUP107	HP:0005625	Osteoporosis of vertebrae
57122	NUP107	HP:0003073	Hypoalbuminemia
57122	NUP107	HP:0004374	Hemiplegia/hemiparesis
57122	NUP107	HP:0004349	Reduced bone mineral density
57122	NUP107	HP:0000767	Pectus excavatum
57122	NUP107	HP:0000737	Irritability
57122	NUP107	HP:0000750	Delayed speech and language development
57122	NUP107	HP:0000707	Abnormality of the nervous system
57122	NUP107	HP:0000794	IgA deposition in the glomerulus
57122	NUP107	HP:0000786	Primary amenorrhea
57122	NUP107	HP:0003124	Hypercholesterolemia
57122	NUP107	HP:0000924	Abnormality of the skeletal system
57122	NUP107	HP:0000869	Secondary amenorrhea
57122	NUP107	HP:0000837	Increased circulating gonadotropin level
57122	NUP107	HP:0000815	Hypergonadotropic hypogonadism
57122	NUP107	HP:0000823	Delayed puberty
57122	NUP107	HP:0010311	Aplasia/Hypoplasia of the breasts
57122	NUP107	HP:0000954	Single transverse palmar crease
57122	NUP107	HP:0000969	Edema
57122	NUP107	HP:0000964	Eczema
57122	NUP107	HP:0000938	Osteopenia
57122	NUP107	HP:0005108	Abnormal intervertebral disk morphology
57122	NUP107	HP:0030084	Clinodactyly
57122	NUP107	HP:0000252	Microcephaly
57122	NUP107	HP:0000218	High palate
57122	NUP107	HP:0001511	Intrauterine growth retardation
57122	NUP107	HP:0031504	Foamy urine
57122	NUP107	HP:0000365	Hearing impairment
57122	NUP107	HP:0000341	Narrow forehead
57122	NUP107	HP:0000340	Sloping forehead
57122	NUP107	HP:0000347	Micrognathia
57122	NUP107	HP:0000319	Smooth philtrum
57122	NUP107	HP:0000316	Hypertelorism
57122	NUP107	HP:0001644	Dilated cardiomyopathy
57122	NUP107	HP:0001629	Ventricular septal defect
57122	NUP107	HP:0001622	Premature birth
57122	NUP107	HP:0002967	Cubitus valgus
57122	NUP107	HP:0000400	Macrotia
57122	NUP107	HP:0001822	Hallux valgus
57122	NUP107	HP:0012579	Minimal change glomerulonephritis
57128	LYRM4	HP:0002490	Increased CSF lactate
57128	LYRM4	HP:0002421	Poor head control
57128	LYRM4	HP:0001252	Hypotonia
57128	LYRM4	HP:0000007	Autosomal recessive inheritance
57128	LYRM4	HP:0001319	Neonatal hypotonia
57128	LYRM4	HP:0001403	Macrovesicular hepatic steatosis
57128	LYRM4	HP:0001414	Microvesicular hepatic steatosis
57128	LYRM4	HP:0002020	Gastroesophageal reflux
57128	LYRM4	HP:0002033	Poor suck
57128	LYRM4	HP:0002098	Respiratory distress
57128	LYRM4	HP:0030948	Elevated gamma-glutamyltransferase level
57128	LYRM4	HP:0002240	Hepatomegaly
57128	LYRM4	HP:0003557	Increased variability in muscle fiber diameter
57128	LYRM4	HP:0011968	Feeding difficulties
57128	LYRM4	HP:0002395	Lower limb hyperreflexia
57128	LYRM4	HP:0003648	Lacticaciduria
57128	LYRM4	HP:0003623	Neonatal onset
57128	LYRM4	HP:0001946	Ketosis
57128	LYRM4	HP:0001942	Metabolic acidosis
57128	LYRM4	HP:0031956	Elevated circulating aspartate aminotransferase concentration
57128	LYRM4	HP:0031964	Elevated circulating alanine aminotransferase concentration
57128	LYRM4	HP:0012707	Elevated brain lactate level by MRS
57128	LYRM4	HP:0030774	Mitochondrial swelling
57128	LYRM4	HP:0003128	Lactic acidosis
57128	LYRM4	HP:0010307	Stridor
57128	LYRM4	HP:0001508	Failure to thrive
57128	LYRM4	HP:0001612	Weak cry
57128	LYRM4	HP:0032988	Persistent head lag
57135	DAZ4	HP:0008734	Decreased testicular size
57135	DAZ4	HP:0008669	Abnormal spermatogenesis
57135	DAZ4	HP:0000028	Cryptorchidism
57135	DAZ4	HP:0011961	Non-obstructive azoospermia
57135	DAZ4	HP:0000798	Oligospermia
57135	DAZ4	HP:0003251	Male infertility
57152	SLURP1	HP:0001155	Abnormality of the hand
57152	SLURP1	HP:0001156	Brachydactyly
57152	SLURP1	HP:0007447	Diffuse palmoplantar hyperkeratosis
57152	SLURP1	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis
57152	SLURP1	HP:0007390	Hyperkeratosis with erythema
57152	SLURP1	HP:0001218	Autoamputation
57152	SLURP1	HP:0001371	Flexion contracture
57152	SLURP1	HP:0007553	Congenital symmetrical palmoplantar keratosis
57152	SLURP1	HP:0031190	Superficial dermal perivascular inflammatory infiltrate
57152	SLURP1	HP:0000007	Autosomal recessive inheritance
57152	SLURP1	HP:0033194	Perioral erythema
57152	SLURP1	HP:0003593	Infantile onset
57152	SLURP1	HP:0025092	Epidermal acanthosis
57152	SLURP1	HP:0010783	Erythema
57152	SLURP1	HP:0000975	Hyperhidrosis
57152	SLURP1	HP:0000982	Palmoplantar keratoderma
57152	SLURP1	HP:0008064	Ichthyosis
57152	SLURP1	HP:0031452	Lichenoid skin lesion
57152	SLURP1	HP:0011123	Inflammatory abnormality of the skin
57152	SLURP1	HP:0001760	Abnormal foot morphology
57152	SLURP1	HP:0001808	Fragile nails
57156	TMEM63C	HP:0001256	Intellectual disability, mild
57156	TMEM63C	HP:0001260	Dysarthria
57156	TMEM63C	HP:0007350	Hyperreflexia in upper limbs
57156	TMEM63C	HP:0001347	Hyperreflexia
57156	TMEM63C	HP:0001332	Dystonia
57156	TMEM63C	HP:0000007	Autosomal recessive inheritance
57156	TMEM63C	HP:0002064	Spastic gait
57156	TMEM63C	HP:0002061	Lower limb spasticity
57156	TMEM63C	HP:0003487	Babinski sign
57156	TMEM63C	HP:0002194	Delayed gross motor development
57156	TMEM63C	HP:0003593	Infantile onset
57156	TMEM63C	HP:0002395	Lower limb hyperreflexia
57156	TMEM63C	HP:0000639	Nystagmus
57156	TMEM63C	HP:0006986	Upper limb spasticity
57156	TMEM63C	HP:0000750	Delayed speech and language development
57156	TMEM63C	HP:0011463	Childhood onset
57156	TMEM63C	HP:0002938	Lumbar hyperlordosis
57156	TMEM63C	HP:0000486	Strabismus
57158	JPH2	HP:0003819	Death in childhood
57158	JPH2	HP:0000007	Autosomal recessive inheritance
57158	JPH2	HP:0000006	Autosomal dominant inheritance
57158	JPH2	HP:0002094	Dyspnea
57158	JPH2	HP:0004756	Ventricular tachycardia
57158	JPH2	HP:0001962	Palpitations
57158	JPH2	HP:0011462	Young adult onset
57158	JPH2	HP:0010316	Ebstein anomaly of the tricuspid valve
57158	JPH2	HP:0005110	Atrial fibrillation
57158	JPH2	HP:0001522	Death in infancy
57158	JPH2	HP:0001685	Myocardial fibrosis
57158	JPH2	HP:0001681	Angina pectoris
57158	JPH2	HP:0001644	Dilated cardiomyopathy
57158	JPH2	HP:0001639	Hypertrophic cardiomyopathy
57158	JPH2	HP:0006673	Reduced systolic function
57158	JPH2	HP:0001712	Left ventricular hypertrophy
57165	GJC2	HP:0002465	Poor speech
57165	GJC2	HP:0007220	Demyelinating motor neuropathy
57165	GJC2	HP:0002421	Poor head control
57165	GJC2	HP:0002415	Leukodystrophy
57165	GJC2	HP:0001270	Motor delay
57165	GJC2	HP:0002599	Head titubation
57165	GJC2	HP:0001250	Seizure
57165	GJC2	HP:0001251	Ataxia
57165	GJC2	HP:0001266	Choreoathetosis
57165	GJC2	HP:0001260	Dysarthria
57165	GJC2	HP:0001263	Global developmental delay
57165	GJC2	HP:0001258	Spastic paraplegia
57165	GJC2	HP:0007377	Abnormality of somatosensory evoked potentials
57165	GJC2	HP:0003829	Typified by incomplete penetrance
57165	GJC2	HP:0000020	Urinary incontinence
57165	GJC2	HP:0001347	Hyperreflexia
57165	GJC2	HP:0000034	Hydrocele testis
57165	GJC2	HP:0001332	Dystonia
57165	GJC2	HP:0001328	Specific learning disability
57165	GJC2	HP:0000007	Autosomal recessive inheritance
57165	GJC2	HP:0000006	Autosomal dominant inheritance
57165	GJC2	HP:0001310	Dysmetria
57165	GJC2	HP:0002650	Scoliosis
57165	GJC2	HP:0002619	Varicose veins
57165	GJC2	HP:0002624	Abnormal venous morphology
57165	GJC2	HP:0008936	Axial hypotonia
57165	GJC2	HP:0002019	Constipation
57165	GJC2	HP:0002080	Intention tremor
57165	GJC2	HP:0100543	Cognitive impairment
57165	GJC2	HP:0002063	Rigidity
57165	GJC2	HP:0002064	Spastic gait
57165	GJC2	HP:0002061	Lower limb spasticity
57165	GJC2	HP:0003390	Sensory axonal neuropathy
57165	GJC2	HP:0002079	Hypoplasia of the corpus callosum
57165	GJC2	HP:0002059	Cerebral atrophy
57165	GJC2	HP:0003474	Somatic sensory dysfunction
57165	GJC2	HP:0003487	Babinski sign
57165	GJC2	HP:0003431	Decreased motor nerve conduction velocity
57165	GJC2	HP:0003429	CNS hypomyelination
57165	GJC2	HP:0002194	Delayed gross motor development
57165	GJC2	HP:0002191	Progressive spasticity
57165	GJC2	HP:0003593	Infantile onset
57165	GJC2	HP:0003550	Predominantly lower limb lymphedema
57165	GJC2	HP:0100797	Toenail dysplasia
57165	GJC2	HP:0100725	Lichenification
57165	GJC2	HP:0010628	Facial palsy
57165	GJC2	HP:0001055	Erysipelas
57165	GJC2	HP:0002384	Focal impaired awareness seizure
57165	GJC2	HP:0001004	Lymphedema
57165	GJC2	HP:0002355	Difficulty walking
57165	GJC2	HP:0002352	Leukoencephalopathy
57165	GJC2	HP:0002349	Focal aware seizure
57165	GJC2	HP:0002313	Spastic paraparesis
57165	GJC2	HP:0100658	Cellulitis
57165	GJC2	HP:0200058	Angiosarcoma
57165	GJC2	HP:0010741	Pedal edema
57165	GJC2	HP:0003621	Juvenile onset
57165	GJC2	HP:0006808	Cerebral hypomyelination
57165	GJC2	HP:0000639	Nystagmus
57165	GJC2	HP:0000649	Abnormality of visual evoked potentials
57165	GJC2	HP:0000648	Optic atrophy
57165	GJC2	HP:0001999	Abnormal facial shape
57165	GJC2	HP:0006986	Upper limb spasticity
57165	GJC2	HP:0006958	Abnormal auditory evoked potentials
57165	GJC2	HP:0000708	Atypical behavior
57165	GJC2	HP:0011463	Childhood onset
57165	GJC2	HP:0011462	Young adult onset
57165	GJC2	HP:0012896	Abnormal motor evoked potentials
57165	GJC2	HP:0000962	Hyperkeratosis
57165	GJC2	HP:0008069	Neoplasm of the skin
57165	GJC2	HP:0000286	Epicanthus
57165	GJC2	HP:0001583	Rotary nystagmus
57165	GJC2	HP:0001581	Recurrent skin infections
57165	GJC2	HP:0002839	Urinary bladder sphincter dysfunction
57165	GJC2	HP:0002936	Distal sensory impairment
57165	GJC2	HP:0000407	Sensorineural hearing impairment
57165	GJC2	HP:0000486	Strabismus
57165	GJC2	HP:0001785	Ankle swelling
57165	GJC2	HP:0001761	Pes cavus
57165	GJC2	HP:0000514	Slow saccadic eye movements
57165	GJC2	HP:0000545	Myopia
57167	SALL4	HP:0001177	Preaxial hand polydactyly
57167	SALL4	HP:0001172	Abnormal thumb morphology
57167	SALL4	HP:0001156	Brachydactyly
57167	SALL4	HP:0001159	Syndactyly
57167	SALL4	HP:0001199	Triphalangeal thumb
57167	SALL4	HP:0009921	Duane anomaly
57167	SALL4	HP:0008588	Slit-like opening of the exterior auditory meatus
57167	SALL4	HP:0008572	External ear malformation
57167	SALL4	HP:0001250	Seizure
57167	SALL4	HP:0001263	Global developmental delay
57167	SALL4	HP:0001245	Small thenar eminence
57167	SALL4	HP:0002566	Intestinal malrotation
57167	SALL4	HP:0006101	Finger syndactyly
57167	SALL4	HP:0007400	Irregular hyperpigmentation
57167	SALL4	HP:0006064	Limited interphalangeal movement
57167	SALL4	HP:0008678	Renal hypoplasia/aplasia
57167	SALL4	HP:0003834	Shoulder dislocation
57167	SALL4	HP:0000089	Renal hypoplasia
57167	SALL4	HP:0000086	Ectopic kidney
57167	SALL4	HP:0000085	Horseshoe kidney
57167	SALL4	HP:0000076	Vesicoureteral reflux
57167	SALL4	HP:0001387	Joint stiffness
57167	SALL4	HP:0000015	Bladder diverticulum
57167	SALL4	HP:0001357	Plagiocephaly
57167	SALL4	HP:0008897	Postnatal growth retardation
57167	SALL4	HP:0007477	Abnormal dermatoglyphics
57167	SALL4	HP:0000006	Autosomal dominant inheritance
57167	SALL4	HP:0002650	Scoliosis
57167	SALL4	HP:0003974	Absent radius
57167	SALL4	HP:0002617	Vascular dilatation
57167	SALL4	HP:0001498	Carpal bone hypoplasia
57167	SALL4	HP:0000175	Cleft palate
57167	SALL4	HP:0000143	Rectovaginal fistula
57167	SALL4	HP:0008998	Pectoralis hypoplasia
57167	SALL4	HP:0008953	Pectoralis major hypoplasia
57167	SALL4	HP:0006248	Limited wrist movement
57167	SALL4	HP:0000126	Hydronephrosis
57167	SALL4	HP:0000104	Renal agenesis
57167	SALL4	HP:0002025	Anal stenosis
57167	SALL4	HP:0002023	Anal atresia
57167	SALL4	HP:0002007	Frontal bossing
57167	SALL4	HP:0003312	Abnormal form of the vertebral bodies
57167	SALL4	HP:0009486	Radial deviation of the hand
57167	SALL4	HP:0004736	Crossed fused renal ectopia
57167	SALL4	HP:0003422	Vertebral segmentation defect
57167	SALL4	HP:0009601	Aplasia/Hypoplasia of the thumb
57167	SALL4	HP:0002162	Low posterior hairline
57167	SALL4	HP:0004712	Renal malrotation
57167	SALL4	HP:0003577	Congenital onset
57167	SALL4	HP:0002251	Aganglionic megacolon
57167	SALL4	HP:0009702	Carpal synostosis
57167	SALL4	HP:0009650	Short distal phalanx of the thumb
57167	SALL4	HP:0010628	Facial palsy
57167	SALL4	HP:0003510	Severe short stature
57167	SALL4	HP:0001053	Hypopigmented skin patches
57167	SALL4	HP:0009824	Upper limb undergrowth
57167	SALL4	HP:0009777	Absent thumb
57167	SALL4	HP:0009778	Short thumb
57167	SALL4	HP:0010059	Broad hallux phalanx
57167	SALL4	HP:0000639	Nystagmus
57167	SALL4	HP:0000634	Impaired ocular abduction
57167	SALL4	HP:0000646	Amblyopia
57167	SALL4	HP:0001974	Leukocytosis
57167	SALL4	HP:0000643	Blepharospasm
57167	SALL4	HP:0000619	Impaired convergence
57167	SALL4	HP:0000612	Iris coloboma
57167	SALL4	HP:0000615	Abnormal pupil morphology
57167	SALL4	HP:0010048	Aplasia of metacarpal bones
57167	SALL4	HP:0011386	Narrow internal auditory canal
57167	SALL4	HP:0010034	Short 1st metacarpal
57167	SALL4	HP:0011365	Patchy hypopigmentation of hair
57167	SALL4	HP:0009016	Upper limb muscle hypoplasia
57167	SALL4	HP:0000661	Palpebral fissure narrowing on adduction
57167	SALL4	HP:0005640	Abnormal vertebral segmentation and fusion
57167	SALL4	HP:0030680	Abnormality of cardiovascular system morphology
57167	SALL4	HP:0003022	Hypoplasia of the ulna
57167	SALL4	HP:0012745	Short palpebral fissure
57167	SALL4	HP:0012732	Anorectal anomaly
57167	SALL4	HP:0010109	Short hallux
57167	SALL4	HP:0005792	Short humerus
57167	SALL4	HP:0003097	Short femur
57167	SALL4	HP:0000894	Short clavicles
57167	SALL4	HP:0003202	Skeletal muscle atrophy
57167	SALL4	HP:0003298	Spina bifida occulta
57167	SALL4	HP:0100258	Preaxial polydactyly
57167	SALL4	HP:0011675	Arrhythmia
57167	SALL4	HP:0000286	Epicanthus
57167	SALL4	HP:0012246	Oculomotor nerve palsy
57167	SALL4	HP:0007766	Optic disc hypoplasia
57167	SALL4	HP:0002818	Abnormal morphology of the radius
57167	SALL4	HP:0005048	Synostosis of carpal bones
57167	SALL4	HP:0000252	Microcephaly
57167	SALL4	HP:0033980	Paroxysmal tonic upgaze
57167	SALL4	HP:0000232	Everted lower lip vermilion
57167	SALL4	HP:0006501	Aplasia/Hypoplasia of the radius
57167	SALL4	HP:0007818	Central heterochromia
57167	SALL4	HP:0012385	Camptodactyly
57167	SALL4	HP:0000384	Preauricular skin tag
57167	SALL4	HP:0002948	Vertebral fusion
57167	SALL4	HP:0002949	Fused cervical vertebrae
57167	SALL4	HP:0000365	Hearing impairment
57167	SALL4	HP:0002996	Limited elbow movement
57167	SALL4	HP:0000347	Micrognathia
57167	SALL4	HP:0000316	Hypertelorism
57167	SALL4	HP:0001643	Patent ductus arteriosus
57167	SALL4	HP:0002974	Radioulnar synostosis
57167	SALL4	HP:0002984	Hypoplasia of the radius
57167	SALL4	HP:0000324	Facial asymmetry
57167	SALL4	HP:0001629	Ventricular septal defect
57167	SALL4	HP:0001636	Tetralogy of Fallot
57167	SALL4	HP:0001631	Atrial septal defect
57167	SALL4	HP:0004059	Radial club hand
57167	SALL4	HP:0007990	Hypoplastic iris stroma
57167	SALL4	HP:0006660	Aplastic clavicle
57167	SALL4	HP:0001739	Abnormal nasopharynx morphology
57167	SALL4	HP:0000407	Sensorineural hearing impairment
57167	SALL4	HP:0000405	Conductive hearing impairment
57167	SALL4	HP:0000402	Stenosis of the external auditory canal
57167	SALL4	HP:0000486	Strabismus
57167	SALL4	HP:0000480	Retinal coloboma
57167	SALL4	HP:0000482	Microcornea
57167	SALL4	HP:0000496	Abnormality of eye movement
57167	SALL4	HP:0000490	Deeply set eye
57167	SALL4	HP:0000463	Anteverted nares
57167	SALL4	HP:0030241	Hypoplasia of deltoid muscle
57167	SALL4	HP:0000470	Short neck
57167	SALL4	HP:0000465	Webbed neck
57167	SALL4	HP:0001770	Toe syndactyly
57167	SALL4	HP:0001763	Pes planus
57167	SALL4	HP:0000453	Choanal atresia
57167	SALL4	HP:0000452	Choanal stenosis
57167	SALL4	HP:0001762	Talipes equinovarus
57167	SALL4	HP:0000431	Wide nasal bridge
57167	SALL4	HP:0000518	Cataract
57167	SALL4	HP:0000526	Aniridia
57167	SALL4	HP:0001852	Sandal gap
57167	SALL4	HP:0000508	Ptosis
57167	SALL4	HP:0000505	Visual impairment
57167	SALL4	HP:0000581	Blepharophimosis
57167	SALL4	HP:0000589	Coloboma
57167	SALL4	HP:0000588	Optic disc coloboma
57167	SALL4	HP:0000568	Microphthalmia
57167	SALL4	HP:0000567	Chorioretinal coloboma
57167	SALL4	HP:0001883	Talipes
57167	SALL4	HP:0000542	Impaired ocular adduction
57167	SALL4	HP:0001873	Thrombocytopenia
57167	SALL4	HP:0000544	External ophthalmoplegia
57169	ZNFX1	HP:0002480	Hepatic encephalopathy
57169	ZNFX1	HP:0032271	Extrapulmonary tuberculosis
57169	ZNFX1	HP:0001250	Seizure
57169	ZNFX1	HP:0001263	Global developmental delay
57169	ZNFX1	HP:0002514	Cerebral calcification
57169	ZNFX1	HP:0003819	Death in childhood
57169	ZNFX1	HP:0000083	Renal insufficiency
57169	ZNFX1	HP:0000007	Autosomal recessive inheritance
57169	ZNFX1	HP:0012156	Hemophagocytosis
57169	ZNFX1	HP:0025435	Increased circulating lactate dehydrogenase concentration
57169	ZNFX1	HP:0002783	Recurrent lower respiratory tract infections
57169	ZNFX1	HP:0000100	Nephrotic syndrome
57169	ZNFX1	HP:0001433	Hepatosplenomegaly
57169	ZNFX1	HP:0002716	Lymphadenopathy
57169	ZNFX1	HP:0011897	Neutrophilia
57169	ZNFX1	HP:0003593	Infantile onset
57169	ZNFX1	HP:0002240	Hepatomegaly
57169	ZNFX1	HP:0100702	Arachnoid cyst
57169	ZNFX1	HP:0002254	Intermittent diarrhea
57169	ZNFX1	HP:0003565	Elevated erythrocyte sedimentation rate
57169	ZNFX1	HP:0002202	Pleural effusion
57169	ZNFX1	HP:0033399	Persistent fever
57169	ZNFX1	HP:0020087	BCGosis
57169	ZNFX1	HP:0002384	Focal impaired awareness seizure
57169	ZNFX1	HP:0003621	Juvenile onset
57169	ZNFX1	HP:0005575	Hemolytic-uremic syndrome
57169	ZNFX1	HP:0005548	Megakaryocytopenia
57169	ZNFX1	HP:0001954	Recurrent fever
57169	ZNFX1	HP:0000729	Autistic behavior
57169	ZNFX1	HP:0011463	Childhood onset
57169	ZNFX1	HP:0000793	Membranoproliferative glomerulonephritis
57169	ZNFX1	HP:0040223	Pulmonary hemorrhage
57169	ZNFX1	HP:0000969	Edema
57169	ZNFX1	HP:0040186	Maculopapular exanthema
57169	ZNFX1	HP:0040197	Encephalomalacia
57169	ZNFX1	HP:0001522	Death in infancy
57169	ZNFX1	HP:0001508	Failure to thrive
57169	ZNFX1	HP:0006554	Acute hepatic failure
57169	ZNFX1	HP:0006530	Abnormal pulmonary interstitial morphology
57169	ZNFX1	HP:0006532	Recurrent pneumonia
57169	ZNFX1	HP:0002910	Elevated hepatic transaminase
57169	ZNFX1	HP:0012311	Monocytosis
57169	ZNFX1	HP:0031691	Severe viral infection
57169	ZNFX1	HP:0011227	Elevated circulating C-reactive protein concentration
57169	ZNFX1	HP:0001873	Thrombocytopenia
57176	VARS2	HP:0010851	EEG with burst suppression
57176	VARS2	HP:0001276	Hypertonia
57176	VARS2	HP:0001252	Hypotonia
57176	VARS2	HP:0001251	Ataxia
57176	VARS2	HP:0001263	Global developmental delay
57176	VARS2	HP:0007359	Focal-onset seizure
57176	VARS2	HP:0001324	Muscle weakness
57176	VARS2	HP:0000007	Autosomal recessive inheritance
57176	VARS2	HP:0001321	Cerebellar hypoplasia
57176	VARS2	HP:0003348	Hyperalaninemia
57176	VARS2	HP:0002093	Respiratory insufficiency
57176	VARS2	HP:0002079	Hypoplasia of the corpus callosum
57176	VARS2	HP:0011923	Decreased activity of mitochondrial complex I
57176	VARS2	HP:0003593	Infantile onset
57176	VARS2	HP:0008347	Decreased activity of mitochondrial complex IV
57176	VARS2	HP:0003623	Neonatal onset
57176	VARS2	HP:0030682	Left ventricular noncompaction
57176	VARS2	HP:0012707	Elevated brain lactate level by MRS
57176	VARS2	HP:0003128	Lactic acidosis
57176	VARS2	HP:0000252	Microcephaly
57176	VARS2	HP:0001518	Small for gestational age
57176	VARS2	HP:0001639	Hypertrophic cardiomyopathy
57176	VARS2	HP:0000508	Ptosis
57176	VARS2	HP:0000590	Progressive external ophthalmoplegia
57178	ZMIZ1	HP:0001182	Tapered finger
57178	ZMIZ1	HP:0001156	Brachydactyly
57178	ZMIZ1	HP:0009921	Duane anomaly
57178	ZMIZ1	HP:0009904	Prominent ear helix
57178	ZMIZ1	HP:0100807	Long fingers
57178	ZMIZ1	HP:0001272	Cerebellar atrophy
57178	ZMIZ1	HP:0001270	Motor delay
57178	ZMIZ1	HP:0001250	Seizure
57178	ZMIZ1	HP:0001252	Hypotonia
57178	ZMIZ1	HP:0001249	Intellectual disability
57178	ZMIZ1	HP:0001263	Global developmental delay
57178	ZMIZ1	HP:0032388	Periventricular nodular heterotopia
57178	ZMIZ1	HP:0000076	Vesicoureteral reflux
57178	ZMIZ1	HP:0001382	Joint hypermobility
57178	ZMIZ1	HP:0000047	Hypospadias
57178	ZMIZ1	HP:0000028	Cryptorchidism
57178	ZMIZ1	HP:0008872	Feeding difficulties in infancy
57178	ZMIZ1	HP:0000006	Autosomal dominant inheritance
57178	ZMIZ1	HP:0002650	Scoliosis
57178	ZMIZ1	HP:0000160	Narrow mouth
57178	ZMIZ1	HP:0000154	Wide mouth
57178	ZMIZ1	HP:0002019	Constipation
57178	ZMIZ1	HP:0004691	2-3 toe syndactyly
57178	ZMIZ1	HP:0011800	Midface retrusion
57178	ZMIZ1	HP:0002079	Hypoplasia of the corpus callosum
57178	ZMIZ1	HP:0002059	Cerebral atrophy
57178	ZMIZ1	HP:0002119	Ventriculomegaly
57178	ZMIZ1	HP:0002188	Delayed CNS myelination
57178	ZMIZ1	HP:0010579	Cone-shaped epiphysis
57178	ZMIZ1	HP:0002263	Exaggerated cupid's bow
57178	ZMIZ1	HP:0003593	Infantile onset
57178	ZMIZ1	HP:0007018	Attention deficit hyperactivity disorder
57178	ZMIZ1	HP:0009765	Low hanging columella
57178	ZMIZ1	HP:0000646	Amblyopia
57178	ZMIZ1	HP:0010055	Broad hallux
57178	ZMIZ1	HP:0000767	Pectus excavatum
57178	ZMIZ1	HP:0000750	Delayed speech and language development
57178	ZMIZ1	HP:0000718	Aggressive behavior
57178	ZMIZ1	HP:0000729	Autistic behavior
57178	ZMIZ1	HP:0009381	Short finger
57178	ZMIZ1	HP:0000286	Epicanthus
57178	ZMIZ1	HP:0000297	Facial hypotonia
57178	ZMIZ1	HP:0001510	Growth delay
57178	ZMIZ1	HP:0000365	Hearing impairment
57178	ZMIZ1	HP:0000369	Low-set ears
57178	ZMIZ1	HP:0000343	Long philtrum
57178	ZMIZ1	HP:0000347	Micrognathia
57178	ZMIZ1	HP:0000319	Smooth philtrum
57178	ZMIZ1	HP:0000316	Hypertelorism
57178	ZMIZ1	HP:0001643	Patent ductus arteriosus
57178	ZMIZ1	HP:0000483	Astigmatism
57178	ZMIZ1	HP:0000494	Downslanted palpebral fissures
57178	ZMIZ1	HP:0000431	Wide nasal bridge
57178	ZMIZ1	HP:0000426	Prominent nasal bridge
57178	ZMIZ1	HP:0001822	Hallux valgus
57178	ZMIZ1	HP:0000508	Ptosis
57178	ZMIZ1	HP:0000501	Glaucoma
57178	ZMIZ1	HP:0001831	Short toe
57178	ZMIZ1	HP:0012585	Renal atrophy
57178	ZMIZ1	HP:0000582	Upslanted palpebral fissure
57178	ZMIZ1	HP:0000589	Coloboma
57187	THOC2	HP:0002487	Hyperkinetic movements
57187	THOC2	HP:0010864	Intellectual disability, severe
57187	THOC2	HP:0001288	Gait disturbance
57187	THOC2	HP:0001256	Intellectual disability, mild
57187	THOC2	HP:0001250	Seizure
57187	THOC2	HP:0001252	Hypotonia
57187	THOC2	HP:0001249	Intellectual disability
57187	THOC2	HP:0001257	Spasticity
57187	THOC2	HP:0008734	Decreased testicular size
57187	THOC2	HP:0002500	Abnormal cerebral white matter morphology
57187	THOC2	HP:0000054	Micropenis
57187	THOC2	HP:0001385	Hip dysplasia
57187	THOC2	HP:0001388	Joint laxity
57187	THOC2	HP:0000028	Cryptorchidism
57187	THOC2	HP:0001337	Tremor
57187	THOC2	HP:0001320	Cerebellar vermis hypoplasia
57187	THOC2	HP:0001317	Abnormal cerebellum morphology
57187	THOC2	HP:0001419	X-linked recessive inheritance
57187	THOC2	HP:0002069	Bilateral tonic-clonic seizure
57187	THOC2	HP:0002119	Ventriculomegaly
57187	THOC2	HP:0002171	Gliosis
57187	THOC2	HP:0002269	Abnormality of neuronal migration
57187	THOC2	HP:0002206	Pulmonary fibrosis
57187	THOC2	HP:0007033	Cerebellar dysplasia
57187	THOC2	HP:0011968	Feeding difficulties
57187	THOC2	HP:0002342	Intellectual disability, moderate
57187	THOC2	HP:0000639	Nystagmus
57187	THOC2	HP:0001956	Truncal obesity
57187	THOC2	HP:0004322	Short stature
57187	THOC2	HP:0006986	Upper limb spasticity
57187	THOC2	HP:0000739	Anxiety
57187	THOC2	HP:0000733	Abnormal repetitive mannerisms
57187	THOC2	HP:0000750	Delayed speech and language development
57187	THOC2	HP:0000742	Self-mutilation
57187	THOC2	HP:0000716	Depression
57187	THOC2	HP:0000729	Autistic behavior
57187	THOC2	HP:0000708	Atypical behavior
57187	THOC2	HP:0004437	Cranial hyperostosis
57187	THOC2	HP:0000824	Decreased response to growth hormone stimulation test
57187	THOC2	HP:0000954	Single transverse palmar crease
57187	THOC2	HP:0031418	Increased body mass index
57187	THOC2	HP:0000252	Microcephaly
57187	THOC2	HP:0000218	High palate
57187	THOC2	HP:0025502	Overweight
57187	THOC2	HP:0030043	Hip subluxation
57187	THOC2	HP:0001518	Small for gestational age
57187	THOC2	HP:0000337	Broad forehead
57187	THOC2	HP:0000348	High forehead
57187	THOC2	HP:0000316	Hypertelorism
57187	THOC2	HP:0001658	Myocardial infarction
57187	THOC2	HP:0001622	Premature birth
57187	THOC2	HP:0000407	Sensorineural hearing impairment
57187	THOC2	HP:0000400	Macrotia
57187	THOC2	HP:0000486	Strabismus
57187	THOC2	HP:0030260	Microphallus
57187	THOC2	HP:0000505	Visual impairment
57187	THOC2	HP:0000577	Exotropia
57190	SELENON	HP:0003789	Minicore myopathy
57190	SELENON	HP:0003787	Type 1 and type 2 muscle fiber minicore regions
57190	SELENON	HP:0002421	Poor head control
57190	SELENON	HP:0003749	Pelvic girdle muscle weakness
57190	SELENON	HP:0003722	Neck flexor weakness
57190	SELENON	HP:0003741	Congenital muscular dystrophy
57190	SELENON	HP:0003700	Generalized amyotrophy
57190	SELENON	HP:0001290	Generalized hypotonia
57190	SELENON	HP:0001270	Motor delay
57190	SELENON	HP:0001284	Areflexia
57190	SELENON	HP:0001252	Hypotonia
57190	SELENON	HP:0001249	Intellectual disability
57190	SELENON	HP:0001265	Hyporeflexia
57190	SELENON	HP:0001263	Global developmental delay
57190	SELENON	HP:0002515	Waddling gait
57190	SELENON	HP:0002505	Loss of ambulation
57190	SELENON	HP:0003803	Type 1 muscle fiber predominance
57190	SELENON	HP:0001374	Congenital hip dislocation
57190	SELENON	HP:0001371	Flexion contracture
57190	SELENON	HP:0001385	Hip dysplasia
57190	SELENON	HP:0000007	Autosomal recessive inheritance
57190	SELENON	HP:0002650	Scoliosis
57190	SELENON	HP:0001315	Reduced tendon reflexes
57190	SELENON	HP:0002792	Reduced vital capacity
57190	SELENON	HP:0002751	Kyphoscoliosis
57190	SELENON	HP:0002747	Respiratory insufficiency due to muscle weakness
57190	SELENON	HP:0005991	Limited neck flexion
57190	SELENON	HP:0003327	Axial muscle weakness
57190	SELENON	HP:0002015	Dysphagia
57190	SELENON	HP:0003307	Hyperlordosis
57190	SELENON	HP:0003306	Spinal rigidity
57190	SELENON	HP:0003323	Progressive muscle weakness
57190	SELENON	HP:0003324	Generalized muscle weakness
57190	SELENON	HP:0011807	Type 1 muscle fiber atrophy
57190	SELENON	HP:0002086	Abnormality of the respiratory system
57190	SELENON	HP:0002093	Respiratory insufficiency
57190	SELENON	HP:0002090	Pneumonia
57190	SELENON	HP:0002091	Restrictive ventilatory defect
57190	SELENON	HP:0003391	Gowers sign
57190	SELENON	HP:0002058	Myopathic facies
57190	SELENON	HP:0003388	Easy fatigability
57190	SELENON	HP:0002194	Delayed gross motor development
57190	SELENON	HP:0011842	Abnormal skeletal morphology
57190	SELENON	HP:0003593	Infantile onset
57190	SELENON	HP:0003577	Congenital onset
57190	SELENON	HP:0003547	Shoulder girdle muscle weakness
57190	SELENON	HP:0004878	Intercostal muscle weakness
57190	SELENON	HP:0003560	Muscular dystrophy
57190	SELENON	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
57190	SELENON	HP:0003557	Increased variability in muscle fiber diameter
57190	SELENON	HP:0002205	Recurrent respiratory infections
57190	SELENON	HP:0011968	Feeding difficulties
57190	SELENON	HP:0010628	Facial palsy
57190	SELENON	HP:0011951	Aspiration pneumonia
57190	SELENON	HP:0002360	Sleep disturbance
57190	SELENON	HP:0003687	Centrally nucleated skeletal muscle fibers
57190	SELENON	HP:0002315	Headache
57190	SELENON	HP:0003623	Neonatal onset
57190	SELENON	HP:0000602	Ophthalmoplegia
57190	SELENON	HP:0009058	Increased muscle lipid content
57190	SELENON	HP:0009027	Foot dorsiflexor weakness
57190	SELENON	HP:0000678	Dental crowding
57190	SELENON	HP:0009004	Hypoplasia of the musculature
57190	SELENON	HP:0004325	Decreased body weight
57190	SELENON	HP:0004322	Short stature
57190	SELENON	HP:0003089	Hamstring contractures
57190	SELENON	HP:0004396	Poor appetite
57190	SELENON	HP:0004347	Weakness of muscles of respiration
57190	SELENON	HP:0031936	Delayed ability to walk
57190	SELENON	HP:0000767	Pectus excavatum
57190	SELENON	HP:0011470	Nasogastric tube feeding in infancy
57190	SELENON	HP:0012785	Flexion contracture of finger
57190	SELENON	HP:0003198	Myopathy
57190	SELENON	HP:0030878	Abnormality on pulmonary function testing
57190	SELENON	HP:0003202	Skeletal muscle atrophy
57190	SELENON	HP:0003273	Hip contracture
57190	SELENON	HP:0100295	Muscle fiber atrophy
57190	SELENON	HP:0100297	Increased endomysial connective tissue
57190	SELENON	HP:0000276	Long face
57190	SELENON	HP:0006466	Ankle flexion contracture
57190	SELENON	HP:0002828	Multiple joint contractures
57190	SELENON	HP:0030091	Absent muscle fiber merosin
57190	SELENON	HP:0006380	Knee flexion contracture
57190	SELENON	HP:0001547	Abnormal rib cage morphology
57190	SELENON	HP:0002878	Respiratory failure
57190	SELENON	HP:0000218	High palate
57190	SELENON	HP:0002877	Nocturnal hypoventilation
57190	SELENON	HP:0001561	Polyhydramnios
57190	SELENON	HP:0001558	Decreased fetal movement
57190	SELENON	HP:0001508	Failure to thrive
57190	SELENON	HP:0012378	Fatigue
57190	SELENON	HP:0005216	Impaired mastication
57190	SELENON	HP:0001609	Hoarse voice
57190	SELENON	HP:0030192	Fatigable weakness of bulbar muscles
57190	SELENON	HP:0001667	Right ventricular hypertrophy
57190	SELENON	HP:0000347	Micrognathia
57190	SELENON	HP:0001648	Cor pulmonale
57190	SELENON	HP:0002987	Elbow flexion contracture
57190	SELENON	HP:0001627	Abnormal heart morphology
57190	SELENON	HP:0001620	High pitched voice
57190	SELENON	HP:0000308	Microretrognathia
57190	SELENON	HP:0001635	Congestive heart failure
57190	SELENON	HP:0000303	Mandibular prognathia
57190	SELENON	HP:0001634	Mitral valve prolapse
57190	SELENON	HP:0030319	Weakness of facial musculature
57190	SELENON	HP:0001708	Right ventricular failure
57190	SELENON	HP:0031546	Cardiac conduction abnormality
57190	SELENON	HP:0000467	Neck muscle weakness
57190	SELENON	HP:0001763	Pes planus
57190	SELENON	HP:0012416	Hypercapnia
57190	SELENON	HP:0012418	Hypoxemia
57190	SELENON	HP:0001762	Talipes equinovarus
57190	SELENON	HP:0001761	Pes cavus
57190	SELENON	HP:0001824	Weight loss
57192	MCOLN1	HP:0007281	Developmental stagnation
57192	MCOLN1	HP:0500167	Hypergastrinemia
57192	MCOLN1	HP:0007266	Cerebral dysmyelination
57192	MCOLN1	HP:0001290	Generalized hypotonia
57192	MCOLN1	HP:0001272	Cerebellar atrophy
57192	MCOLN1	HP:0001288	Gait disturbance
57192	MCOLN1	HP:0001252	Hypotonia
57192	MCOLN1	HP:0001251	Ataxia
57192	MCOLN1	HP:0001249	Intellectual disability
57192	MCOLN1	HP:0001263	Global developmental delay
57192	MCOLN1	HP:0002510	Spastic tetraplegia
57192	MCOLN1	HP:0001347	Hyperreflexia
57192	MCOLN1	HP:0001332	Dystonia
57192	MCOLN1	HP:0001344	Absent speech
57192	MCOLN1	HP:0000007	Autosomal recessive inheritance
57192	MCOLN1	HP:0032448	Achlorhydria
57192	MCOLN1	HP:0001438	Abnormal abdomen morphology
57192	MCOLN1	HP:0003487	Babinski sign
57192	MCOLN1	HP:0003593	Infantile onset
57192	MCOLN1	HP:0002344	Progressive neurologic deterioration
57192	MCOLN1	HP:0002353	EEG abnormality
57192	MCOLN1	HP:0000639	Nystagmus
57192	MCOLN1	HP:0000648	Optic atrophy
57192	MCOLN1	HP:0000613	Photophobia
57192	MCOLN1	HP:0000691	Microdontia
57192	MCOLN1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
57192	MCOLN1	HP:0006989	Dysplastic corpus callosum
57192	MCOLN1	HP:0004345	Ganglioside accumulation
57192	MCOLN1	HP:0000708	Atypical behavior
57192	MCOLN1	HP:0004422	Biparietal narrowing
57192	MCOLN1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
57192	MCOLN1	HP:0000982	Palmoplantar keratoderma
57192	MCOLN1	HP:0007703	Abnormality of retinal pigmentation
57192	MCOLN1	HP:0000280	Coarse facial features
57192	MCOLN1	HP:0007759	Opacification of the corneal stroma
57192	MCOLN1	HP:0005105	Abnormal nasal morphology
57192	MCOLN1	HP:0002816	Genu recurvatum
57192	MCOLN1	HP:0000252	Microcephaly
57192	MCOLN1	HP:0000232	Everted lower lip vermilion
57192	MCOLN1	HP:0011020	Abnormality of mucopolysaccharide metabolism
57192	MCOLN1	HP:0007957	Corneal opacity
57192	MCOLN1	HP:0000486	Strabismus
57192	MCOLN1	HP:0000488	Retinopathy
57192	MCOLN1	HP:0000512	Abnormal electroretinogram
57192	MCOLN1	HP:0000505	Visual impairment
57192	MCOLN1	HP:0000546	Retinal degeneration
57194	ATP10A	HP:0002465	Poor speech
57194	ATP10A	HP:0001250	Seizure
57194	ATP10A	HP:0001251	Ataxia
57194	ATP10A	HP:0002591	Polyphagia
57194	ATP10A	HP:0410263	Brain imaging abnormality
57194	ATP10A	HP:0008872	Feeding difficulties in infancy
57194	ATP10A	HP:0001344	Absent speech
57194	ATP10A	HP:0000154	Wide mouth
57194	ATP10A	HP:0008947	Infantile muscular hypotonia
57194	ATP10A	HP:0002136	Broad-based gait
57194	ATP10A	HP:0001010	Hypopigmentation of the skin
57194	ATP10A	HP:0002353	EEG abnormality
57194	ATP10A	HP:0002307	Drooling
57194	ATP10A	HP:0005599	Hypopigmentation of hair
57194	ATP10A	HP:0001999	Abnormal facial shape
57194	ATP10A	HP:0006979	Sleep-wake cycle disturbance
57194	ATP10A	HP:0031936	Delayed ability to walk
57194	ATP10A	HP:0000752	Hyperactivity
57194	ATP10A	HP:0000736	Short attention span
57194	ATP10A	HP:0000748	Inappropriate laughter
57194	ATP10A	HP:0000710	Hyperorality
57194	ATP10A	HP:0000708	Atypical behavior
57194	ATP10A	HP:0004485	Cessation of head growth
57194	ATP10A	HP:0040082	Happy demeanor
57194	ATP10A	HP:0007730	Iris hypopigmentation
57194	ATP10A	HP:0001513	Obesity
57194	ATP10A	HP:0000303	Mandibular prognathia
57211	ADGRG6	HP:0001181	Adducted thumb
57211	ADGRG6	HP:0001196	Short umbilical cord
57211	ADGRG6	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
57211	ADGRG6	HP:0031013	Ankylosis
57211	ADGRG6	HP:0000007	Autosomal recessive inheritance
57211	ADGRG6	HP:0002650	Scoliosis
57211	ADGRG6	HP:0002089	Pulmonary hypoplasia
57211	ADGRG6	HP:0009487	Ulnar deviation of the hand
57211	ADGRG6	HP:0100602	Preeclampsia
57211	ADGRG6	HP:0000775	Abnormality of the diaphragm
57211	ADGRG6	HP:0003198	Myopathy
57211	ADGRG6	HP:0002803	Congenital contracture
57211	ADGRG6	HP:0000219	Thin upper lip vermilion
57211	ADGRG6	HP:0001561	Polyhydramnios
57211	ADGRG6	HP:0001558	Decreased fetal movement
57211	ADGRG6	HP:0001511	Intrauterine growth retardation
57211	ADGRG6	HP:0000369	Low-set ears
57211	ADGRG6	HP:0000347	Micrognathia
57211	ADGRG6	HP:0000316	Hypertelorism
57211	ADGRG6	HP:0000325	Triangular face
57211	ADGRG6	HP:0005280	Depressed nasal bridge
57211	ADGRG6	HP:0000463	Anteverted nares
57211	ADGRG6	HP:0001762	Talipes equinovarus
57216	VANGL2	HP:0002475	Myelomeningocele
57216	VANGL2	HP:0001274	Agenesis of corpus callosum
57216	VANGL2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
57216	VANGL2	HP:0012032	Lipoma
57216	VANGL2	HP:0002683	Abnormal calvaria morphology
57216	VANGL2	HP:0000020	Urinary incontinence
57216	VANGL2	HP:0001360	Holoprosencephaly
57216	VANGL2	HP:0000006	Autosomal dominant inheritance
57216	VANGL2	HP:0410030	Cleft lip
57216	VANGL2	HP:0011756	Posterior pituitary agenesis
57216	VANGL2	HP:0010516	Thymus hyperplasia
57216	VANGL2	HP:0011821	Abnormal facial skeleton morphology
57216	VANGL2	HP:0010627	Anterior pituitary hypoplasia
57216	VANGL2	HP:0001012	Multiple lipomas
57216	VANGL2	HP:0002323	Anencephaly
57216	VANGL2	HP:0009800	Maternal diabetes
57216	VANGL2	HP:0008482	Asymmetry of spinal facet joints
57216	VANGL2	HP:0000776	Congenital diaphragmatic hernia
57216	VANGL2	HP:0000929	Abnormal skull morphology
57216	VANGL2	HP:0000835	Adrenal hypoplasia
57216	VANGL2	HP:0003298	Spina bifida occulta
57216	VANGL2	HP:0010305	Absence of the sacrum
57216	VANGL2	HP:0000960	Sacral dimple
57216	VANGL2	HP:0000238	Hydrocephalus
57216	VANGL2	HP:0001561	Polyhydramnios
57216	VANGL2	HP:0001539	Omphalocele
57216	VANGL2	HP:0001511	Intrauterine growth retardation
57216	VANGL2	HP:0000369	Low-set ears
57216	VANGL2	HP:0005280	Depressed nasal bridge
57216	VANGL2	HP:0030244	Maternal fever in pregnancy
57216	VANGL2	HP:0012443	Abnormality of brain morphology
57216	VANGL2	HP:0005466	Hypoplasia of the frontal bone
57216	VANGL2	HP:0000520	Proptosis
57217	TTC7A	HP:0003765	Psoriasiform dermatitis
57217	TTC7A	HP:0010959	Congenital pulmonary airway malformation
57217	TTC7A	HP:0032220	Interface hepatitis
57217	TTC7A	HP:0002589	Gastrointestinal atresia
57217	TTC7A	HP:0002573	Hematochezia
57217	TTC7A	HP:0002566	Intestinal malrotation
57217	TTC7A	HP:0100889	Abnormality of the ductus choledochus
57217	TTC7A	HP:0100867	Duodenal stenosis
57217	TTC7A	HP:0003819	Death in childhood
57217	TTC7A	HP:0000007	Autosomal recessive inheritance
57217	TTC7A	HP:0012190	T-cell lymphoma
57217	TTC7A	HP:0012115	Hepatitis
57217	TTC7A	HP:0006297	Enamel hypoplasia
57217	TTC7A	HP:0002722	Recurrent abscess formation
57217	TTC7A	HP:0002721	Immunodeficiency
57217	TTC7A	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
57217	TTC7A	HP:0010448	Colonic atresia
57217	TTC7A	HP:0100592	Peritoneal abscess
57217	TTC7A	HP:0003577	Congenital onset
57217	TTC7A	HP:0002247	Duodenal atresia
57217	TTC7A	HP:0002223	Absent eyebrow
57217	TTC7A	HP:0002205	Recurrent respiratory infections
57217	TTC7A	HP:0008404	Nail dystrophy
57217	TTC7A	HP:0002293	Alopecia of scalp
57217	TTC7A	HP:0025023	Rectal atresia
57217	TTC7A	HP:0100651	Type I diabetes mellitus
57217	TTC7A	HP:0025085	Bloody diarrhea
57217	TTC7A	HP:0001072	Thickened skin
57217	TTC7A	HP:0010766	Ectopic calcification
57217	TTC7A	HP:0001974	Leukocytosis
57217	TTC7A	HP:0004313	Decreased circulating antibody level
57217	TTC7A	HP:0004387	Enterocolitis
57217	TTC7A	HP:0000778	Hypoplasia of the thymus
57217	TTC7A	HP:0004432	Agammaglobulinemia
57217	TTC7A	HP:0004430	Severe combined immunodeficiency
57217	TTC7A	HP:0000872	Hashimoto thyroiditis
57217	TTC7A	HP:0003270	Abdominal distention
57217	TTC7A	HP:0008070	Sparse hair
57217	TTC7A	HP:0001561	Polyhydramnios
57217	TTC7A	HP:0001522	Death in infancy
57217	TTC7A	HP:0001539	Omphalocele
57217	TTC7A	HP:0001511	Intrauterine growth retardation
57217	TTC7A	HP:0005235	Jejunal atresia
57217	TTC7A	HP:0005229	Jejunoileal ulceration
57217	TTC7A	HP:0005214	Intestinal obstruction
57217	TTC7A	HP:0005224	Rectal abscess
57217	TTC7A	HP:0000316	Hypertelorism
57217	TTC7A	HP:0002960	Autoimmunity
57217	TTC7A	HP:0001629	Ventricular septal defect
57217	TTC7A	HP:0011102	Ileal atresia
57217	TTC7A	HP:0011100	Intestinal atresia
57217	TTC7A	HP:0001894	Thrombocytosis
57217	TTC7A	HP:0001890	Autoimmune hemolytic anemia
57217	TTC7A	HP:0011220	Prominent forehead
57217	TTC7A	HP:0001888	Lymphopenia
57222	ERGIC1	HP:0001284	Areflexia
57222	ERGIC1	HP:0001239	Wrist flexion contracture
57222	ERGIC1	HP:0410263	Brain imaging abnormality
57222	ERGIC1	HP:0007340	Lower limb muscle weakness
57222	ERGIC1	HP:0008807	Acetabular dysplasia
57222	ERGIC1	HP:0001371	Flexion contracture
57222	ERGIC1	HP:0001357	Plagiocephaly
57222	ERGIC1	HP:0007477	Abnormal dermatoglyphics
57222	ERGIC1	HP:0000007	Autosomal recessive inheritance
57222	ERGIC1	HP:0002650	Scoliosis
57222	ERGIC1	HP:0002747	Respiratory insufficiency due to muscle weakness
57222	ERGIC1	HP:0002098	Respiratory distress
57222	ERGIC1	HP:0002058	Myopathic facies
57222	ERGIC1	HP:0008110	Equinovarus deformity
57222	ERGIC1	HP:0008180	Mildly elevated creatine kinase
57222	ERGIC1	HP:0003484	Upper limb muscle weakness
57222	ERGIC1	HP:0003444	EMG: chronic denervation signs
57222	ERGIC1	HP:0003577	Congenital onset
57222	ERGIC1	HP:0011968	Feeding difficulties
57222	ERGIC1	HP:0002380	Fasciculations
57222	ERGIC1	HP:0010781	Skin dimple
57222	ERGIC1	HP:0030680	Abnormality of cardiovascular system morphology
57222	ERGIC1	HP:0030799	Scaphocephaly
57222	ERGIC1	HP:0003198	Myopathy
57222	ERGIC1	HP:0003202	Skeletal muscle atrophy
57222	ERGIC1	HP:0003273	Hip contracture
57222	ERGIC1	HP:0006466	Ankle flexion contracture
57222	ERGIC1	HP:0002827	Hip dislocation
57222	ERGIC1	HP:0002803	Congenital contracture
57222	ERGIC1	HP:0002804	Arthrogryposis multiplex congenita
57222	ERGIC1	HP:0006380	Knee flexion contracture
57222	ERGIC1	HP:0001562	Oligohydramnios
57222	ERGIC1	HP:0001558	Decreased fetal movement
57222	ERGIC1	HP:0000347	Micrognathia
57222	ERGIC1	HP:0000316	Hypertelorism
57222	ERGIC1	HP:0002987	Elbow flexion contracture
57222	ERGIC1	HP:0001627	Abnormal heart morphology
57222	ERGIC1	HP:0001623	Breech presentation
57222	ERGIC1	HP:0001762	Talipes equinovarus
57222	ERGIC1	HP:0001838	Rocker bottom foot
57231	SNX14	HP:0001156	Brachydactyly
57231	SNX14	HP:0010862	Delayed fine motor development
57231	SNX14	HP:0010864	Intellectual disability, severe
57231	SNX14	HP:0001272	Cerebellar atrophy
57231	SNX14	HP:0001250	Seizure
57231	SNX14	HP:0001252	Hypotonia
57231	SNX14	HP:0001251	Ataxia
57231	SNX14	HP:0001249	Intellectual disability
57231	SNX14	HP:0001265	Hyporeflexia
57231	SNX14	HP:0001263	Global developmental delay
57231	SNX14	HP:0001257	Spasticity
57231	SNX14	HP:0007360	Aplasia/Hypoplasia of the cerebellum
57231	SNX14	HP:0002540	Inability to walk
57231	SNX14	HP:0002500	Abnormal cerebral white matter morphology
57231	SNX14	HP:0025336	Delayed ability to sit
57231	SNX14	HP:0002684	Thickened calvaria
57231	SNX14	HP:0001344	Absent speech
57231	SNX14	HP:0000007	Autosomal recessive inheritance
57231	SNX14	HP:0002650	Scoliosis
57231	SNX14	HP:0001321	Cerebellar hypoplasia
57231	SNX14	HP:0000158	Macroglossia
57231	SNX14	HP:0012110	Hypoplasia of the pons
57231	SNX14	HP:0001433	Hepatosplenomegaly
57231	SNX14	HP:0002751	Kyphoscoliosis
57231	SNX14	HP:0002002	Deep philtrum
57231	SNX14	HP:0002007	Frontal bossing
57231	SNX14	HP:0100540	Palpebral edema
57231	SNX14	HP:0010471	Oligosacchariduria
57231	SNX14	HP:0003487	Babinski sign
57231	SNX14	HP:0002120	Cerebral cortical atrophy
57231	SNX14	HP:0002136	Broad-based gait
57231	SNX14	HP:0002186	Apraxia
57231	SNX14	HP:0002194	Delayed gross motor development
57231	SNX14	HP:0011842	Abnormal skeletal morphology
57231	SNX14	HP:0003593	Infantile onset
57231	SNX14	HP:0002240	Hepatomegaly
57231	SNX14	HP:0002219	Facial hypertrichosis
57231	SNX14	HP:0008443	Neuropathic spinal arthropathy
57231	SNX14	HP:0003623	Neonatal onset
57231	SNX14	HP:0000639	Nystagmus
57231	SNX14	HP:0011344	Severe global developmental delay
57231	SNX14	HP:0000684	Delayed eruption of teeth
57231	SNX14	HP:0000678	Dental crowding
57231	SNX14	HP:0006951	Retrocerebellar cyst
57231	SNX14	HP:0012745	Short palpebral fissure
57231	SNX14	HP:0000768	Pectus carinatum
57231	SNX14	HP:0000750	Delayed speech and language development
57231	SNX14	HP:0000729	Autistic behavior
57231	SNX14	HP:0011463	Childhood onset
57231	SNX14	HP:0004482	Relative macrocephaly
57231	SNX14	HP:0012810	Wide nasal base
57231	SNX14	HP:0000998	Hypertrichosis
57231	SNX14	HP:0000286	Epicanthus
57231	SNX14	HP:0000283	Broad face
57231	SNX14	HP:0000280	Coarse facial features
57231	SNX14	HP:0000293	Full cheeks
57231	SNX14	HP:0000289	Broad philtrum
57231	SNX14	HP:0030084	Clinodactyly
57231	SNX14	HP:0000218	High palate
57231	SNX14	HP:0012385	Camptodactyly
57231	SNX14	HP:0000365	Hearing impairment
57231	SNX14	HP:0000343	Long philtrum
57231	SNX14	HP:0000350	Small forehead
57231	SNX14	HP:0001643	Patent ductus arteriosus
57231	SNX14	HP:0000307	Pointed chin
57231	SNX14	HP:0001631	Atrial septal defect
57231	SNX14	HP:0000407	Sensorineural hearing impairment
57231	SNX14	HP:0005280	Depressed nasal bridge
57231	SNX14	HP:0012471	Thick vermilion border
57231	SNX14	HP:0000463	Anteverted nares
57231	SNX14	HP:0012434	Delayed social development
57231	SNX14	HP:0000414	Bulbous nose
57231	SNX14	HP:0001744	Splenomegaly
57231	SNX14	HP:0001762	Talipes equinovarus
57231	SNX14	HP:0000431	Wide nasal bridge
57231	SNX14	HP:0000506	Telecanthus
57231	SNX14	HP:0011220	Prominent forehead
57338	JPH3	HP:0002476	Primitive reflex
57338	JPH3	HP:0001288	Gait disturbance
57338	JPH3	HP:0001260	Dysarthria
57338	JPH3	HP:0010994	Abnormal corpus striatum morphology
57338	JPH3	HP:0001347	Hyperreflexia
57338	JPH3	HP:0001332	Dystonia
57338	JPH3	HP:0000006	Autosomal dominant inheritance
57338	JPH3	HP:0001300	Parkinsonism
57338	JPH3	HP:0002067	Bradykinesia
57338	JPH3	HP:0002063	Rigidity
57338	JPH3	HP:0002060	Abnormal cerebral morphology
57338	JPH3	HP:0002072	Chorea
57338	JPH3	HP:0002120	Cerebral cortical atrophy
57338	JPH3	HP:0003596	Middle age onset
57338	JPH3	HP:0002345	Action tremor
57338	JPH3	HP:0002340	Caudate atrophy
57338	JPH3	HP:0002354	Memory impairment
57338	JPH3	HP:0007123	Subcortical dementia
57338	JPH3	HP:0004302	Functional motor deficit
57338	JPH3	HP:0004305	Involuntary movements
57338	JPH3	HP:0000751	Personality changes
57338	JPH3	HP:0100022	Abnormality of movement
57338	JPH3	HP:0000738	Hallucinations
57338	JPH3	HP:0000737	Irritability
57338	JPH3	HP:0000739	Anxiety
57338	JPH3	HP:0000746	Delusions
57338	JPH3	HP:0000741	Apathy
57338	JPH3	HP:0000716	Depression
57338	JPH3	HP:0000726	Dementia
57338	JPH3	HP:0000708	Atypical behavior
57338	JPH3	HP:0030216	Inertia
57338	JPH3	HP:0001824	Weight loss
57379	AICDA	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine
57379	AICDA	HP:0000007	Autosomal recessive inheritance
57379	AICDA	HP:0002718	Recurrent bacterial infections
57379	AICDA	HP:0002716	Lymphadenopathy
57379	AICDA	HP:0002720	Decreased circulating IgA level
57379	AICDA	HP:0002721	Immunodeficiency
57379	AICDA	HP:0004798	Recurrent infection of the gastrointestinal tract
57379	AICDA	HP:0003496	Increased circulating IgM level
57379	AICDA	HP:0002205	Recurrent respiratory infections
57379	AICDA	HP:0200117	Recurrent upper and lower respiratory tract infections
57379	AICDA	HP:0004315	Decreased circulating IgG level
57379	AICDA	HP:0011463	Childhood onset
57379	AICDA	HP:0002959	Impaired Ig class switch recombination
57393	CLTRN	HP:0001250	Seizure
57393	CLTRN	HP:0001252	Hypotonia
57393	CLTRN	HP:0001251	Ataxia
57393	CLTRN	HP:0001249	Intellectual disability
57393	CLTRN	HP:0001263	Global developmental delay
57393	CLTRN	HP:0007400	Irregular hyperpigmentation
57393	CLTRN	HP:0001347	Hyperreflexia
57393	CLTRN	HP:0012086	Abnormal urinary color
57393	CLTRN	HP:0002024	Malabsorption
57393	CLTRN	HP:0002076	Migraine
57393	CLTRN	HP:0008353	Neutral hyperaminoaciduria
57393	CLTRN	HP:0002383	Infectious encephalitis
57393	CLTRN	HP:0001053	Hypopigmented skin patches
57393	CLTRN	HP:0002353	EEG abnormality
57393	CLTRN	HP:0000639	Nystagmus
57393	CLTRN	HP:0000613	Photophobia
57393	CLTRN	HP:0004322	Short stature
57393	CLTRN	HP:0000738	Hallucinations
57393	CLTRN	HP:0000739	Anxiety
57393	CLTRN	HP:0000712	Emotional lability
57393	CLTRN	HP:0000992	Cutaneous photosensitivity
57393	CLTRN	HP:0000988	Skin rash
57393	CLTRN	HP:0008066	Abnormal blistering of the skin
57393	CLTRN	HP:0000230	Gingivitis
57393	CLTRN	HP:0000206	Glossitis
57393	CLTRN	HP:0000486	Strabismus
57393	CLTRN	HP:0000478	Abnormality of the eye
57393	CLTRN	HP:0000504	Abnormality of vision
57410	SCYL1	HP:0001152	Saccadic smooth pursuit
57410	SCYL1	HP:0002460	Distal muscle weakness
57410	SCYL1	HP:0007328	Impaired pain sensation
57410	SCYL1	HP:0025268	Stuttering
57410	SCYL1	HP:0001270	Motor delay
57410	SCYL1	HP:0001256	Intellectual disability, mild
57410	SCYL1	HP:0001265	Hyporeflexia
57410	SCYL1	HP:0001263	Global developmental delay
57410	SCYL1	HP:0001257	Spasticity
57410	SCYL1	HP:0001399	Hepatic failure
57410	SCYL1	HP:0001395	Hepatic fibrosis
57410	SCYL1	HP:0001347	Hyperreflexia
57410	SCYL1	HP:0000007	Autosomal recessive inheritance
57410	SCYL1	HP:0001337	Tremor
57410	SCYL1	HP:0007663	Reduced visual acuity
57410	SCYL1	HP:0001433	Hepatosplenomegaly
57410	SCYL1	HP:0002080	Intention tremor
57410	SCYL1	HP:0002066	Gait ataxia
57410	SCYL1	HP:0002073	Progressive cerebellar ataxia
57410	SCYL1	HP:0002070	Limb ataxia
57410	SCYL1	HP:0003474	Somatic sensory dysfunction
57410	SCYL1	HP:0003401	Paresthesia
57410	SCYL1	HP:0003593	Infantile onset
57410	SCYL1	HP:0002240	Hepatomegaly
57410	SCYL1	HP:0002359	Frequent falls
57410	SCYL1	HP:0009830	Peripheral neuropathy
57410	SCYL1	HP:0007141	Sensorimotor neuropathy
57410	SCYL1	HP:0006855	Cerebellar vermis atrophy
57410	SCYL1	HP:0000648	Optic atrophy
57410	SCYL1	HP:0000641	Dysmetric saccades
57410	SCYL1	HP:0001945	Fever
57410	SCYL1	HP:0009053	Distal lower limb muscle weakness
57410	SCYL1	HP:0009055	Generalized limb muscle atrophy
57410	SCYL1	HP:0011463	Childhood onset
57410	SCYL1	HP:0012852	Hepatic bridging fibrosis
57410	SCYL1	HP:0003202	Skeletal muscle atrophy
57410	SCYL1	HP:0006554	Acute hepatic failure
57410	SCYL1	HP:0002936	Distal sensory impairment
57410	SCYL1	HP:0001744	Splenomegaly
57410	SCYL1	HP:0001762	Talipes equinovarus
57449	PLEKHG5	HP:0002460	Distal muscle weakness
57449	PLEKHG5	HP:0007269	Spinal muscular atrophy
57449	PLEKHG5	HP:0003701	Proximal muscle weakness
57449	PLEKHG5	HP:0001284	Areflexia
57449	PLEKHG5	HP:0002515	Waddling gait
57449	PLEKHG5	HP:0000007	Autosomal recessive inheritance
57449	PLEKHG5	HP:0002650	Scoliosis
57449	PLEKHG5	HP:0002747	Respiratory insufficiency due to muscle weakness
57449	PLEKHG5	HP:0003307	Hyperlordosis
57449	PLEKHG5	HP:0003376	Steppage gait
57449	PLEKHG5	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
57449	PLEKHG5	HP:0008180	Mildly elevated creatine kinase
57449	PLEKHG5	HP:0009473	Joint contracture of the hand
57449	PLEKHG5	HP:0003474	Somatic sensory dysfunction
57449	PLEKHG5	HP:0003431	Decreased motor nerve conduction velocity
57449	PLEKHG5	HP:0003445	EMG: neuropathic changes
57449	PLEKHG5	HP:0003596	Middle age onset
57449	PLEKHG5	HP:0003551	Difficulty climbing stairs
57449	PLEKHG5	HP:0002366	Abnormal lower motor neuron morphology
57449	PLEKHG5	HP:0003697	Scapuloperoneal amyotrophy
57449	PLEKHG5	HP:0003693	Distal amyotrophy
57449	PLEKHG5	HP:0002355	Difficulty walking
57449	PLEKHG5	HP:0003678	Rapidly progressive
57449	PLEKHG5	HP:0003621	Juvenile onset
57449	PLEKHG5	HP:0011463	Childhood onset
57449	PLEKHG5	HP:0002936	Distal sensory impairment
57449	PLEKHG5	HP:0001765	Hammertoe
57449	PLEKHG5	HP:0001762	Talipes equinovarus
57449	PLEKHG5	HP:0001761	Pes cavus
57459	GATAD2B	HP:0002465	Poor speech
57459	GATAD2B	HP:0002463	Language impairment
57459	GATAD2B	HP:0010864	Intellectual disability, severe
57459	GATAD2B	HP:0100807	Long fingers
57459	GATAD2B	HP:0001263	Global developmental delay
57459	GATAD2B	HP:0008770	Obsessive-compulsive trait
57459	GATAD2B	HP:0002546	Incomprehensible speech
57459	GATAD2B	HP:0002500	Abnormal cerebral white matter morphology
57459	GATAD2B	HP:0001388	Joint laxity
57459	GATAD2B	HP:0000047	Hypospadias
57459	GATAD2B	HP:0000006	Autosomal dominant inheritance
57459	GATAD2B	HP:0001319	Neonatal hypotonia
57459	GATAD2B	HP:0000154	Wide mouth
57459	GATAD2B	HP:0008947	Infantile muscular hypotonia
57459	GATAD2B	HP:0002007	Frontal bossing
57459	GATAD2B	HP:0002061	Lower limb spasticity
57459	GATAD2B	HP:0002121	Generalized non-motor (absence) seizure
57459	GATAD2B	HP:0010511	Long toe
57459	GATAD2B	HP:0003593	Infantile onset
57459	GATAD2B	HP:0002213	Fine hair
57459	GATAD2B	HP:0011968	Feeding difficulties
57459	GATAD2B	HP:0002360	Sleep disturbance
57459	GATAD2B	HP:0009836	Broad distal phalanx of finger
57459	GATAD2B	HP:0000637	Long palpebral fissure
57459	GATAD2B	HP:0000629	Periorbital fullness
57459	GATAD2B	HP:0000609	Optic nerve hypoplasia
57459	GATAD2B	HP:0000752	Hyperactivity
57459	GATAD2B	HP:0100033	Tics
57459	GATAD2B	HP:0000748	Inappropriate laughter
57459	GATAD2B	HP:0000744	Low frustration tolerance
57459	GATAD2B	HP:0000742	Self-mutilation
57459	GATAD2B	HP:0000729	Autistic behavior
57459	GATAD2B	HP:0045025	Narrow palpebral fissure
57459	GATAD2B	HP:0008070	Sparse hair
57459	GATAD2B	HP:0000286	Epicanthus
57459	GATAD2B	HP:0000273	Facial grimacing
57459	GATAD2B	HP:0001566	Widely-spaced maxillary central incisors
57459	GATAD2B	HP:0000219	Thin upper lip vermilion
57459	GATAD2B	HP:0000218	High palate
57459	GATAD2B	HP:0001511	Intrauterine growth retardation
57459	GATAD2B	HP:0000337	Broad forehead
57459	GATAD2B	HP:0000347	Micrognathia
57459	GATAD2B	HP:0000316	Hypertelorism
57459	GATAD2B	HP:0000322	Short philtrum
57459	GATAD2B	HP:0005280	Depressed nasal bridge
57459	GATAD2B	HP:0000484	Hyperopic astigmatism
57459	GATAD2B	HP:0000483	Astigmatism
57459	GATAD2B	HP:0000486	Strabismus
57459	GATAD2B	HP:0000490	Deeply set eye
57459	GATAD2B	HP:0012448	Delayed myelination
57459	GATAD2B	HP:0012450	Chronic constipation
57459	GATAD2B	HP:0000455	Broad nasal tip
57459	GATAD2B	HP:0000431	Wide nasal bridge
57459	GATAD2B	HP:0000582	Upslanted palpebral fissure
57459	GATAD2B	HP:0000581	Blepharophimosis
57459	GATAD2B	HP:0000540	Hypermetropia
57462	MYORG	HP:0007256	Abnormal pyramidal sign
57462	MYORG	HP:0001268	Mental deterioration
57462	MYORG	HP:0001250	Seizure
57462	MYORG	HP:0001251	Ataxia
57462	MYORG	HP:0001260	Dysarthria
57462	MYORG	HP:0002514	Cerebral calcification
57462	MYORG	HP:0001392	Abnormality of the liver
57462	MYORG	HP:0001350	Slurred speech
57462	MYORG	HP:0001347	Hyperreflexia
57462	MYORG	HP:0001332	Dystonia
57462	MYORG	HP:0000007	Autosomal recessive inheritance
57462	MYORG	HP:0033748	Hypoesthesia
57462	MYORG	HP:0001310	Dysmetria
57462	MYORG	HP:0001315	Reduced tendon reflexes
57462	MYORG	HP:0001300	Parkinsonism
57462	MYORG	HP:0002015	Dysphagia
57462	MYORG	HP:0002067	Bradykinesia
57462	MYORG	HP:0002076	Migraine
57462	MYORG	HP:0002072	Chorea
57462	MYORG	HP:0002119	Ventriculomegaly
57462	MYORG	HP:0002135	Basal ganglia calcification
57462	MYORG	HP:0003596	Middle age onset
57462	MYORG	HP:0002269	Abnormality of neuronal migration
57462	MYORG	HP:0002240	Hepatomegaly
57462	MYORG	HP:0003581	Adult onset
57462	MYORG	HP:0003676	Progressive
57462	MYORG	HP:0002354	Memory impairment
57462	MYORG	HP:0025041	Thalamic calcification
57462	MYORG	HP:0001933	Subcutaneous hemorrhage
57462	MYORG	HP:0000709	Psychosis
57462	MYORG	HP:0000252	Microcephaly
57462	MYORG	HP:0001511	Intrauterine growth retardation
57462	MYORG	HP:0007957	Corneal opacity
57462	MYORG	HP:0012444	Brain atrophy
57462	MYORG	HP:0000571	Hypometric saccades
57462	MYORG	HP:0001873	Thrombocytopenia
57465	TBC1D24	HP:0001167	Abnormal finger morphology
57465	TBC1D24	HP:0025100	Abnormal hippocampus morphology
57465	TBC1D24	HP:0008619	Bilateral sensorineural hearing impairment
57465	TBC1D24	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
57465	TBC1D24	HP:0001199	Triphalangeal thumb
57465	TBC1D24	HP:0025152	Poor visual behavior for age
57465	TBC1D24	HP:0007256	Abnormal pyramidal sign
57465	TBC1D24	HP:0009882	Short distal phalanx of finger
57465	TBC1D24	HP:0001290	Generalized hypotonia
57465	TBC1D24	HP:0001272	Cerebellar atrophy
57465	TBC1D24	HP:0001271	Polyneuropathy
57465	TBC1D24	HP:0001270	Motor delay
57465	TBC1D24	HP:0001269	Hemiparesis
57465	TBC1D24	HP:0001288	Gait disturbance
57465	TBC1D24	HP:0001256	Intellectual disability, mild
57465	TBC1D24	HP:0001250	Seizure
57465	TBC1D24	HP:0001252	Hypotonia
57465	TBC1D24	HP:0001251	Ataxia
57465	TBC1D24	HP:0001249	Intellectual disability
57465	TBC1D24	HP:0001265	Hyporeflexia
57465	TBC1D24	HP:0001260	Dysarthria
57465	TBC1D24	HP:0001263	Global developmental delay
57465	TBC1D24	HP:0001262	Excessive daytime somnolence
57465	TBC1D24	HP:0001231	Abnormal fingernail morphology
57465	TBC1D24	HP:0032388	Periventricular nodular heterotopia
57465	TBC1D24	HP:0007359	Focal-onset seizure
57465	TBC1D24	HP:0007332	Focal hemifacial clonic seizure
57465	TBC1D24	HP:0002506	Diffuse cerebral atrophy
57465	TBC1D24	HP:0025373	Interictal EEG abnormality
57465	TBC1D24	HP:0000062	Ambiguous genitalia
57465	TBC1D24	HP:0000079	Abnormality of the urinary system
57465	TBC1D24	HP:0012012	EEG with parietal focal spike waves
57465	TBC1D24	HP:0001332	Dystonia
57465	TBC1D24	HP:0001326	EEG with irregular generalized spike and wave complexes
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance
57465	TBC1D24	HP:0000006	Autosomal dominant inheritance
57465	TBC1D24	HP:0001336	Myoclonus
57465	TBC1D24	HP:0001305	Dandy-Walker malformation
57465	TBC1D24	HP:0000187	Broad alveolar ridges
57465	TBC1D24	HP:0000189	Narrow palate
57465	TBC1D24	HP:0000179	Thick lower lip vermilion
57465	TBC1D24	HP:0000194	Open mouth
57465	TBC1D24	HP:0000164	Abnormality of the dentition
57465	TBC1D24	HP:0001488	Bilateral ptosis
57465	TBC1D24	HP:0000175	Cleft palate
57465	TBC1D24	HP:0008947	Infantile muscular hypotonia
57465	TBC1D24	HP:0008935	Generalized neonatal hypotonia
57465	TBC1D24	HP:0031282	Malalignment of the great toenail
57465	TBC1D24	HP:0000121	Nephrocalcinosis
57465	TBC1D24	HP:0032524	Long thumb
57465	TBC1D24	HP:0002788	Recurrent upper respiratory tract infections
57465	TBC1D24	HP:0000126	Hydronephrosis
57465	TBC1D24	HP:0000104	Renal agenesis
57465	TBC1D24	HP:0002714	Downturned corners of mouth
57465	TBC1D24	HP:0002020	Gastroesophageal reflux
57465	TBC1D24	HP:0002033	Poor suck
57465	TBC1D24	HP:0002007	Frontal bossing
57465	TBC1D24	HP:0004626	Lumbar scoliosis
57465	TBC1D24	HP:0002098	Respiratory distress
57465	TBC1D24	HP:0002069	Bilateral tonic-clonic seizure
57465	TBC1D24	HP:0002066	Gait ataxia
57465	TBC1D24	HP:0002070	Limb ataxia
57465	TBC1D24	HP:0002071	Abnormality of extrapyramidal motor function
57465	TBC1D24	HP:0002059	Cerebral atrophy
57465	TBC1D24	HP:0008110	Equinovarus deformity
57465	TBC1D24	HP:0010497	Sirenomelia
57465	TBC1D24	HP:0002139	Arrhinencephaly
57465	TBC1D24	HP:0002123	Generalized myoclonic seizure
57465	TBC1D24	HP:0002119	Ventriculomegaly
57465	TBC1D24	HP:0002133	Status epilepticus
57465	TBC1D24	HP:0002126	Polymicrogyria
57465	TBC1D24	HP:0002188	Delayed CNS myelination
57465	TBC1D24	HP:0010546	Muscle fibrillation
57465	TBC1D24	HP:0008221	Adrenal hyperplasia
57465	TBC1D24	HP:0002268	Paroxysmal dystonia
57465	TBC1D24	HP:0003593	Infantile onset
57465	TBC1D24	HP:0003577	Congenital onset
57465	TBC1D24	HP:0100797	Toenail dysplasia
57465	TBC1D24	HP:0200134	Epileptic encephalopathy
57465	TBC1D24	HP:0011968	Feeding difficulties
57465	TBC1D24	HP:0011951	Aspiration pneumonia
57465	TBC1D24	HP:0008388	Abnormal toenail morphology
57465	TBC1D24	HP:0002384	Focal impaired awareness seizure
57465	TBC1D24	HP:0002378	Hand tremor
57465	TBC1D24	HP:0002376	Developmental regression
57465	TBC1D24	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
57465	TBC1D24	HP:0003676	Progressive
57465	TBC1D24	HP:0002342	Intellectual disability, moderate
57465	TBC1D24	HP:0002356	Writer's cramp
57465	TBC1D24	HP:0002353	EEG abnormality
57465	TBC1D24	HP:0003677	Slowly progressive
57465	TBC1D24	HP:0009830	Peripheral neuropathy
57465	TBC1D24	HP:0007104	Prolonged somatosensory evoked potentials
57465	TBC1D24	HP:0002301	Hemiplegia
57465	TBC1D24	HP:0002312	Clumsiness
57465	TBC1D24	HP:0004209	Clinodactyly of the 5th finger
57465	TBC1D24	HP:0006829	Severe muscular hypotonia
57465	TBC1D24	HP:0006889	Intellectual disability, borderline
57465	TBC1D24	HP:0006891	Thick cerebral cortex
57465	TBC1D24	HP:0000639	Nystagmus
57465	TBC1D24	HP:0000648	Optic atrophy
57465	TBC1D24	HP:0000643	Blepharospasm
57465	TBC1D24	HP:0000618	Blindness
57465	TBC1D24	HP:0000696	Delayed eruption of permanent teeth
57465	TBC1D24	HP:0000675	Macrodontia of permanent maxillary central incisor
57465	TBC1D24	HP:0011326	Anterior plagiocephaly
57465	TBC1D24	HP:0000687	Widely spaced teeth
57465	TBC1D24	HP:0000666	Horizontal nystagmus
57465	TBC1D24	HP:0006934	Congenital nystagmus
57465	TBC1D24	HP:0030680	Abnormality of cardiovascular system morphology
57465	TBC1D24	HP:0000800	Cystic renal dysplasia
57465	TBC1D24	HP:0011409	Abnormal placental membrane morphology
57465	TBC1D24	HP:0012725	Cutaneous syndactyly
57465	TBC1D24	HP:0000750	Delayed speech and language development
57465	TBC1D24	HP:0000729	Autistic behavior
57465	TBC1D24	HP:0011463	Childhood onset
57465	TBC1D24	HP:0011462	Young adult onset
57465	TBC1D24	HP:0004442	Sagittal craniosynostosis
57465	TBC1D24	HP:0000878	11 pairs of ribs
57465	TBC1D24	HP:0000851	Congenital hypothyroidism
57465	TBC1D24	HP:0012810	Wide nasal base
57465	TBC1D24	HP:0009237	Short 5th finger
57465	TBC1D24	HP:0003298	Spina bifida occulta
57465	TBC1D24	HP:0045084	Limb myoclonus
57465	TBC1D24	HP:0100275	Diffuse cerebellar atrophy
57465	TBC1D24	HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe
57465	TBC1D24	HP:0000286	Epicanthus
57465	TBC1D24	HP:0000280	Coarse facial features
57465	TBC1D24	HP:0000294	Low anterior hairline
57465	TBC1D24	HP:0000269	Prominent occiput
57465	TBC1D24	HP:0000252	Microcephaly
57465	TBC1D24	HP:0000248	Brachycephaly
57465	TBC1D24	HP:0000219	Thin upper lip vermilion
57465	TBC1D24	HP:0000218	High palate
57465	TBC1D24	HP:0000212	Gingival overgrowth
57465	TBC1D24	HP:0001561	Polyhydramnios
57465	TBC1D24	HP:0000232	Everted lower lip vermilion
57465	TBC1D24	HP:0000200	Short lingual frenulum
57465	TBC1D24	HP:0002937	Hemivertebrae
57465	TBC1D24	HP:0000365	Hearing impairment
57465	TBC1D24	HP:0031423	Small cerebellar cortex
57465	TBC1D24	HP:0011003	High myopia
57465	TBC1D24	HP:0000369	Low-set ears
57465	TBC1D24	HP:0000341	Narrow forehead
57465	TBC1D24	HP:0000343	Long philtrum
57465	TBC1D24	HP:0000316	Hypertelorism
57465	TBC1D24	HP:0001643	Patent ductus arteriosus
57465	TBC1D24	HP:0001629	Ventricular septal defect
57465	TBC1D24	HP:0001631	Atrial septal defect
57465	TBC1D24	HP:0011197	EEG with focal spike waves
57465	TBC1D24	HP:0031629	Impaired tandem gait
57465	TBC1D24	HP:0011171	Simple febrile seizure
57465	TBC1D24	HP:0011153	Focal motor seizure
57465	TBC1D24	HP:0005306	Capillary hemangioma
57465	TBC1D24	HP:0000407	Sensorineural hearing impairment
57465	TBC1D24	HP:0001730	Progressive hearing impairment
57465	TBC1D24	HP:0001719	Double outlet right ventricle
57465	TBC1D24	HP:0000486	Strabismus
57465	TBC1D24	HP:0000463	Anteverted nares
57465	TBC1D24	HP:0012448	Delayed myelination
57465	TBC1D24	HP:0000455	Broad nasal tip
57465	TBC1D24	HP:0000474	Thickened nuchal skin fold
57465	TBC1D24	HP:0001798	Anonychia
57465	TBC1D24	HP:0001780	Abnormal toe morphology
57465	TBC1D24	HP:0001751	Abnormal vestibular function
57465	TBC1D24	HP:0012402	Increased urine alpha-ketoglutarate concentration
57465	TBC1D24	HP:0000414	Bulbous nose
57465	TBC1D24	HP:0000413	Atresia of the external auditory canal
57465	TBC1D24	HP:0000431	Wide nasal bridge
57465	TBC1D24	HP:0011295	EEG with parietal sharp waves
57465	TBC1D24	HP:0005484	Secondary microcephaly
57465	TBC1D24	HP:0000518	Cataract
57465	TBC1D24	HP:0000520	Proptosis
57465	TBC1D24	HP:0000508	Ptosis
57465	TBC1D24	HP:0001804	Hypoplastic fingernail
57465	TBC1D24	HP:0001800	Hypoplastic toenails
57465	TBC1D24	HP:0001817	Absent fingernail
57465	TBC1D24	HP:0001894	Thrombocytosis
57465	TBC1D24	HP:0000572	Visual loss
57465	TBC1D24	HP:0000545	Myopia
57468	SLC12A5	HP:0003781	Excessive salivation
57468	SLC12A5	HP:0007256	Abnormal pyramidal sign
57468	SLC12A5	HP:0001250	Seizure
57468	SLC12A5	HP:0001249	Intellectual disability
57468	SLC12A5	HP:0001263	Global developmental delay
57468	SLC12A5	HP:0007359	Focal-onset seizure
57468	SLC12A5	HP:0007334	Bilateral tonic-clonic seizure with focal onset
57468	SLC12A5	HP:0002540	Inability to walk
57468	SLC12A5	HP:0003829	Typified by incomplete penetrance
57468	SLC12A5	HP:0000007	Autosomal recessive inheritance
57468	SLC12A5	HP:0000006	Autosomal dominant inheritance
57468	SLC12A5	HP:0002069	Bilateral tonic-clonic seizure
57468	SLC12A5	HP:0002059	Cerebral atrophy
57468	SLC12A5	HP:0002123	Generalized myoclonic seizure
57468	SLC12A5	HP:0002121	Generalized non-motor (absence) seizure
57468	SLC12A5	HP:0002133	Status epilepticus
57468	SLC12A5	HP:0002188	Delayed CNS myelination
57468	SLC12A5	HP:0003593	Infantile onset
57468	SLC12A5	HP:0002376	Developmental regression
57468	SLC12A5	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
57468	SLC12A5	HP:0003621	Juvenile onset
57468	SLC12A5	HP:0006813	Focal hemiclonic seizure
57468	SLC12A5	HP:0011463	Childhood onset
57468	SLC12A5	HP:0025709	Intermediate young adult onset
57468	SLC12A5	HP:0005484	Secondary microcephaly
57477	SHROOM4	HP:0010864	Intellectual disability, severe
57477	SHROOM4	HP:0001250	Seizure
57477	SHROOM4	HP:0008780	Congenital bilateral hip dislocation
57477	SHROOM4	HP:0001344	Absent speech
57477	SHROOM4	HP:0002205	Recurrent respiratory infections
57477	SHROOM4	HP:0001007	Hirsutism
57477	SHROOM4	HP:0004322	Short stature
57477	SHROOM4	HP:0000752	Hyperactivity
57477	SHROOM4	HP:0000750	Delayed speech and language development
57477	SHROOM4	HP:0003144	Increased serum serotonin
57477	SHROOM4	HP:0000286	Epicanthus
57477	SHROOM4	HP:0002808	Kyphosis
57477	SHROOM4	HP:0001518	Small for gestational age
57477	SHROOM4	HP:0005280	Depressed nasal bridge
57477	SHROOM4	HP:0000486	Strabismus
57477	SHROOM4	HP:0001762	Talipes equinovarus
57477	SHROOM4	HP:0000518	Cataract
57479	PRR12	HP:0009900	Unilateral deafness
57479	PRR12	HP:0001187	Hyperextensibility of the finger joints
57479	PRR12	HP:0001182	Tapered finger
57479	PRR12	HP:0009908	Anterior creases of earlobe
57479	PRR12	HP:0001270	Motor delay
57479	PRR12	HP:0001249	Intellectual disability
57479	PRR12	HP:0001263	Global developmental delay
57479	PRR12	HP:0001212	Prominent fingertip pads
57479	PRR12	HP:0002553	Highly arched eyebrow
57479	PRR12	HP:0001348	Brisk reflexes
57479	PRR12	HP:0006191	Deep palmar crease
57479	PRR12	HP:0000006	Autosomal dominant inheritance
57479	PRR12	HP:0000176	Submucous cleft hard palate
57479	PRR12	HP:0008936	Axial hypotonia
57479	PRR12	HP:0002714	Downturned corners of mouth
57479	PRR12	HP:0011800	Midface retrusion
57479	PRR12	HP:0003577	Congenital onset
57479	PRR12	HP:0100719	Lens coloboma
57479	PRR12	HP:0009743	Distichiasis
57479	PRR12	HP:0100786	Hypersomnia
57479	PRR12	HP:0100789	Torus palatinus
57479	PRR12	HP:0002299	Brittle hair
57479	PRR12	HP:0007018	Attention deficit hyperactivity disorder
57479	PRR12	HP:0003691	Scapular winging
57479	PRR12	HP:0010812	Short uvula
57479	PRR12	HP:0001088	Brushfield spots
57479	PRR12	HP:0100694	Tibial torsion
57479	PRR12	HP:0004209	Clinodactyly of the 5th finger
57479	PRR12	HP:0000639	Nystagmus
57479	PRR12	HP:0000635	Blue irides
57479	PRR12	HP:0000637	Long palpebral fissure
57479	PRR12	HP:0000646	Amblyopia
57479	PRR12	HP:0000612	Iris coloboma
57479	PRR12	HP:0000687	Widely spaced teeth
57479	PRR12	HP:0000659	Peters anomaly
57479	PRR12	HP:0000664	Synophrys
57479	PRR12	HP:0004322	Short stature
57479	PRR12	HP:0006970	Periventricular leukomalacia
57479	PRR12	HP:0000767	Pectus excavatum
57479	PRR12	HP:0000739	Anxiety
57479	PRR12	HP:0000750	Delayed speech and language development
57479	PRR12	HP:0000729	Autistic behavior
57479	PRR12	HP:0012775	Stellate iris
57479	PRR12	HP:0010296	Ankyloglossia
57479	PRR12	HP:0030822	Hooded upper eyelid
57479	PRR12	HP:0000960	Sacral dimple
57479	PRR12	HP:0000278	Retrognathia
57479	PRR12	HP:0007750	Hypoplasia of the fovea
57479	PRR12	HP:0002816	Genu recurvatum
57479	PRR12	HP:0000252	Microcephaly
57479	PRR12	HP:0030001	Lagophthalmos
57479	PRR12	HP:0002870	Obstructive sleep apnea
57479	PRR12	HP:0031354	Sleep onset insomnia
57479	PRR12	HP:0001537	Umbilical hernia
57479	PRR12	HP:0011094	Increased overbite
57479	PRR12	HP:0000378	Cupped ear
57479	PRR12	HP:0000369	Low-set ears
57479	PRR12	HP:0000336	Prominent supraorbital ridges
57479	PRR12	HP:0001655	Patent foramen ovale
57479	PRR12	HP:0007968	Remnants of the hyaloid vascular system
57479	PRR12	HP:0000482	Microcornea
57479	PRR12	HP:0000494	Downslanted palpebral fissures
57479	PRR12	HP:0000490	Deeply set eye
57479	PRR12	HP:0001792	Small nail
57479	PRR12	HP:0001763	Pes planus
57479	PRR12	HP:0000518	Cataract
57479	PRR12	HP:0000527	Long eyelashes
57479	PRR12	HP:0000508	Ptosis
57479	PRR12	HP:0000501	Glaucoma
57479	PRR12	HP:0000579	Nasolacrimal duct obstruction
57479	PRR12	HP:0000577	Exotropia
57479	PRR12	HP:0000574	Thick eyebrow
57479	PRR12	HP:0000568	Microphthalmia
57479	PRR12	HP:0000540	Hypermetropia
57479	PRR12	HP:0000545	Myopia
57492	ARID1B	HP:0009928	Thick nasal alae
57492	ARID1B	HP:0010864	Intellectual disability, severe
57492	ARID1B	HP:0009879	Simplified gyral pattern
57492	ARID1B	HP:0001274	Agenesis of corpus callosum
57492	ARID1B	HP:0001256	Intellectual disability, mild
57492	ARID1B	HP:0001250	Seizure
57492	ARID1B	HP:0001252	Hypotonia
57492	ARID1B	HP:0001249	Intellectual disability
57492	ARID1B	HP:0001263	Global developmental delay
57492	ARID1B	HP:0002592	Gastric ulcer
57492	ARID1B	HP:0002588	Duodenal ulcer
57492	ARID1B	HP:0002576	Intussusception
57492	ARID1B	HP:0002566	Intestinal malrotation
57492	ARID1B	HP:0008665	Clitoral hypertrophy
57492	ARID1B	HP:0001212	Prominent fingertip pads
57492	ARID1B	HP:0000089	Renal hypoplasia
57492	ARID1B	HP:0000086	Ectopic kidney
57492	ARID1B	HP:0000085	Horseshoe kidney
57492	ARID1B	HP:0000072	Hydroureter
57492	ARID1B	HP:0001388	Joint laxity
57492	ARID1B	HP:0000047	Hypospadias
57492	ARID1B	HP:0000023	Inguinal hernia
57492	ARID1B	HP:0001357	Plagiocephaly
57492	ARID1B	HP:0000028	Cryptorchidism
57492	ARID1B	HP:0008897	Postnatal growth retardation
57492	ARID1B	HP:0006237	Prominent interphalangeal joints
57492	ARID1B	HP:0008872	Feeding difficulties in infancy
57492	ARID1B	HP:0001344	Absent speech
57492	ARID1B	HP:0002673	Coxa valga
57492	ARID1B	HP:0001338	Partial agenesis of the corpus callosum
57492	ARID1B	HP:0000006	Autosomal dominant inheritance
57492	ARID1B	HP:0001305	Dandy-Walker malformation
57492	ARID1B	HP:0002650	Scoliosis
57492	ARID1B	HP:0001319	Neonatal hypotonia
57492	ARID1B	HP:0000179	Thick lower lip vermilion
57492	ARID1B	HP:0000175	Cleft palate
57492	ARID1B	HP:0000154	Wide mouth
57492	ARID1B	HP:0000151	Aplasia of the uterus
57492	ARID1B	HP:0008947	Infantile muscular hypotonia
57492	ARID1B	HP:0000119	Abnormality of the genitourinary system
57492	ARID1B	HP:0002788	Recurrent upper respiratory tract infections
57492	ARID1B	HP:0000126	Hydronephrosis
57492	ARID1B	HP:0002750	Delayed skeletal maturation
57492	ARID1B	HP:0002719	Recurrent infections
57492	ARID1B	HP:0002007	Frontal bossing
57492	ARID1B	HP:0002066	Gait ataxia
57492	ARID1B	HP:0002079	Hypoplasia of the corpus callosum
57492	ARID1B	HP:0002119	Ventriculomegaly
57492	ARID1B	HP:0011937	Hypoplastic fifth toenail
57492	ARID1B	HP:0002188	Delayed CNS myelination
57492	ARID1B	HP:0100490	Camptodactyly of finger
57492	ARID1B	HP:0002219	Facial hypertrichosis
57492	ARID1B	HP:0002209	Sparse scalp hair
57492	ARID1B	HP:0002205	Recurrent respiratory infections
57492	ARID1B	HP:0009747	Lumbosacral hirsutism
57492	ARID1B	HP:0100790	Hernia
57492	ARID1B	HP:0011968	Feeding difficulties
57492	ARID1B	HP:0011951	Aspiration pneumonia
57492	ARID1B	HP:0008398	Hypoplastic fifth fingernail
57492	ARID1B	HP:0001028	Hemangioma
57492	ARID1B	HP:0002342	Intellectual disability, moderate
57492	ARID1B	HP:0001007	Hirsutism
57492	ARID1B	HP:0004209	Clinodactyly of the 5th finger
57492	ARID1B	HP:0006863	Severe expressive language delay
57492	ARID1B	HP:0004227	Short distal phalanx of the 5th finger
57492	ARID1B	HP:0000639	Nystagmus
57492	ARID1B	HP:0000601	Hypotelorism
57492	ARID1B	HP:0011359	Dry hair
57492	ARID1B	HP:0000698	Conical tooth
57492	ARID1B	HP:0000684	Delayed eruption of teeth
57492	ARID1B	HP:0000691	Microdontia
57492	ARID1B	HP:0012639	Abnormal nervous system morphology
57492	ARID1B	HP:0001999	Abnormal facial shape
57492	ARID1B	HP:0004322	Short stature
57492	ARID1B	HP:0030680	Abnormality of cardiovascular system morphology
57492	ARID1B	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
57492	ARID1B	HP:0003083	Dislocated radial head
57492	ARID1B	HP:0031936	Delayed ability to walk
57492	ARID1B	HP:0000752	Hyperactivity
57492	ARID1B	HP:0000750	Delayed speech and language development
57492	ARID1B	HP:0000718	Aggressive behavior
57492	ARID1B	HP:0000729	Autistic behavior
57492	ARID1B	HP:0000708	Atypical behavior
57492	ARID1B	HP:0000776	Congenital diaphragmatic hernia
57492	ARID1B	HP:0003196	Short nose
57492	ARID1B	HP:0000879	Short sternum
57492	ARID1B	HP:0100391	Short distal phalanx of the 5th toe
57492	ARID1B	HP:0012810	Wide nasal base
57492	ARID1B	HP:0009237	Short 5th finger
57492	ARID1B	HP:0003241	External genital hypoplasia
57492	ARID1B	HP:0003298	Spina bifida occulta
57492	ARID1B	HP:0000998	Hypertrichosis
57492	ARID1B	HP:0000954	Single transverse palmar crease
57492	ARID1B	HP:0000965	Cutis marmorata
57492	ARID1B	HP:0000960	Sacral dimple
57492	ARID1B	HP:0000286	Epicanthus
57492	ARID1B	HP:0000280	Coarse facial features
57492	ARID1B	HP:0000278	Retrognathia
57492	ARID1B	HP:0000294	Low anterior hairline
57492	ARID1B	HP:0000289	Broad philtrum
57492	ARID1B	HP:0000272	Malar flattening
57492	ARID1B	HP:0030084	Clinodactyly
57492	ARID1B	HP:0002808	Kyphosis
57492	ARID1B	HP:0000252	Microcephaly
57492	ARID1B	HP:0000248	Brachycephaly
57492	ARID1B	HP:0002884	Hepatoblastoma
57492	ARID1B	HP:0000219	Thin upper lip vermilion
57492	ARID1B	HP:0000218	High palate
57492	ARID1B	HP:0002895	Papillary thyroid carcinoma
57492	ARID1B	HP:0001537	Umbilical hernia
57492	ARID1B	HP:0001508	Failure to thrive
57492	ARID1B	HP:0001511	Intrauterine growth retardation
57492	ARID1B	HP:0001510	Growth delay
57492	ARID1B	HP:0000384	Preauricular skin tag
57492	ARID1B	HP:0000377	Abnormal pinna morphology
57492	ARID1B	HP:0001609	Hoarse voice
57492	ARID1B	HP:0006498	Aplasia/Hypoplasia of the patella
57492	ARID1B	HP:0000365	Hearing impairment
57492	ARID1B	HP:0000358	Posteriorly rotated ears
57492	ARID1B	HP:0000369	Low-set ears
57492	ARID1B	HP:0000368	Low-set, posteriorly rotated ears
57492	ARID1B	HP:0000343	Long philtrum
57492	ARID1B	HP:0000347	Micrognathia
57492	ARID1B	HP:0000316	Hypertelorism
57492	ARID1B	HP:0001643	Patent ductus arteriosus
57492	ARID1B	HP:0000331	Short chin
57492	ARID1B	HP:0000322	Short philtrum
57492	ARID1B	HP:0001629	Ventricular septal defect
57492	ARID1B	HP:0001627	Abnormal heart morphology
57492	ARID1B	HP:0001620	High pitched voice
57492	ARID1B	HP:0001636	Tetralogy of Fallot
57492	ARID1B	HP:0001631	Atrial septal defect
57492	ARID1B	HP:0000407	Sensorineural hearing impairment
57492	ARID1B	HP:0005280	Depressed nasal bridge
57492	ARID1B	HP:0000483	Astigmatism
57492	ARID1B	HP:0000486	Strabismus
57492	ARID1B	HP:0000478	Abnormality of the eye
57492	ARID1B	HP:0000494	Downslanted palpebral fissures
57492	ARID1B	HP:0001792	Small nail
57492	ARID1B	HP:0000463	Anteverted nares
57492	ARID1B	HP:0000455	Broad nasal tip
57492	ARID1B	HP:0001798	Anonychia
57492	ARID1B	HP:0000453	Choanal atresia
57492	ARID1B	HP:0000431	Wide nasal bridge
57492	ARID1B	HP:0000527	Long eyelashes
57492	ARID1B	HP:0001852	Sandal gap
57492	ARID1B	HP:0001838	Rocker bottom foot
57492	ARID1B	HP:0000508	Ptosis
57492	ARID1B	HP:0000505	Visual impairment
57492	ARID1B	HP:0000504	Abnormality of vision
57492	ARID1B	HP:0000582	Upslanted palpebral fissure
57492	ARID1B	HP:0011231	Prominent eyelashes
57492	ARID1B	HP:0000574	Thick eyebrow
57492	ARID1B	HP:0012523	Oral aversion
57492	ARID1B	HP:0000545	Myopia
57498	KIDINS220	HP:0001188	Hand clenching
57498	KIDINS220	HP:0001274	Agenesis of corpus callosum
57498	KIDINS220	HP:0001249	Intellectual disability
57498	KIDINS220	HP:0001263	Global developmental delay
57498	KIDINS220	HP:0001258	Spastic paraplegia
57498	KIDINS220	HP:0002509	Limb hypertonia
57498	KIDINS220	HP:0025335	Delayed ability to stand
57498	KIDINS220	HP:0001347	Hyperreflexia
57498	KIDINS220	HP:0025312	Esophoria
57498	KIDINS220	HP:0001357	Plagiocephaly
57498	KIDINS220	HP:0001338	Partial agenesis of the corpus callosum
57498	KIDINS220	HP:0000007	Autosomal recessive inheritance
57498	KIDINS220	HP:0000006	Autosomal dominant inheritance
57498	KIDINS220	HP:0001321	Cerebellar hypoplasia
57498	KIDINS220	HP:0007663	Reduced visual acuity
57498	KIDINS220	HP:0008936	Axial hypotonia
57498	KIDINS220	HP:0002007	Frontal bossing
57498	KIDINS220	HP:0002064	Spastic gait
57498	KIDINS220	HP:0002079	Hypoplasia of the corpus callosum
57498	KIDINS220	HP:0002059	Cerebral atrophy
57498	KIDINS220	HP:0002119	Ventriculomegaly
57498	KIDINS220	HP:0002188	Delayed CNS myelination
57498	KIDINS220	HP:0002194	Delayed gross motor development
57498	KIDINS220	HP:0003593	Infantile onset
57498	KIDINS220	HP:0007020	Progressive spastic paraplegia
57498	KIDINS220	HP:0007082	Dilated third ventricle
57498	KIDINS220	HP:0001093	Optic nerve dysplasia
57498	KIDINS220	HP:0006895	Lower limb hypertonia
57498	KIDINS220	HP:0000639	Nystagmus
57498	KIDINS220	HP:0000678	Dental crowding
57498	KIDINS220	HP:0006956	Lateral ventricle dilatation
57498	KIDINS220	HP:0003049	Ulnar deviation of the wrist
57498	KIDINS220	HP:0011400	Abnormal CNS myelination
57498	KIDINS220	HP:0000750	Delayed speech and language development
57498	KIDINS220	HP:0011461	Fetal onset
57498	KIDINS220	HP:0000293	Full cheeks
57498	KIDINS220	HP:0002804	Arthrogryposis multiplex congenita
57498	KIDINS220	HP:0000248	Brachycephaly
57498	KIDINS220	HP:0001561	Polyhydramnios
57498	KIDINS220	HP:0030051	Tip-toe gait
57498	KIDINS220	HP:0001513	Obesity
57498	KIDINS220	HP:0000347	Micrognathia
57498	KIDINS220	HP:0000322	Short philtrum
57498	KIDINS220	HP:0000483	Astigmatism
57498	KIDINS220	HP:0000486	Strabismus
57498	KIDINS220	HP:0000490	Deeply set eye
57498	KIDINS220	HP:0001762	Talipes equinovarus
57498	KIDINS220	HP:0011220	Prominent forehead
57498	KIDINS220	HP:0000565	Esotropia
57498	KIDINS220	HP:0000540	Hypermetropia
57502	NLGN4X	HP:0003745	Sporadic
57502	NLGN4X	HP:0001256	Intellectual disability, mild
57502	NLGN4X	HP:0001250	Seizure
57502	NLGN4X	HP:0001357	Plagiocephaly
57502	NLGN4X	HP:0001426	Multifactorial inheritance
57502	NLGN4X	HP:0001417	X-linked inheritance
57502	NLGN4X	HP:0002353	EEG abnormality
57502	NLGN4X	HP:0002332	Lack of peer relationships
57502	NLGN4X	HP:0000758	Abnormal nonverbal communicative behavior
57502	NLGN4X	HP:0000732	Inflexible adherence to routines or rituals
57502	NLGN4X	HP:0000750	Delayed speech and language development
57502	NLGN4X	HP:0000729	Autistic behavior
57502	NLGN4X	HP:0000723	Restrictive behavior
57502	NLGN4X	HP:0000721	Lack of spontaneous play
57502	NLGN4X	HP:0011463	Childhood onset
57502	NLGN4X	HP:0003144	Increased serum serotonin
57505	AARS2	HP:0001272	Cerebellar atrophy
57505	AARS2	HP:0001270	Motor delay
57505	AARS2	HP:0001251	Ataxia
57505	AARS2	HP:0001265	Hyporeflexia
57505	AARS2	HP:0001260	Dysarthria
57505	AARS2	HP:0001257	Spasticity
57505	AARS2	HP:0003819	Death in childhood
57505	AARS2	HP:0003811	Neonatal death
57505	AARS2	HP:0001347	Hyperreflexia
57505	AARS2	HP:0001332	Dystonia
57505	AARS2	HP:0001324	Muscle weakness
57505	AARS2	HP:0000007	Autosomal recessive inheritance
57505	AARS2	HP:0025401	Staring gaze
57505	AARS2	HP:0003324	Generalized muscle weakness
57505	AARS2	HP:0002089	Pulmonary hypoplasia
57505	AARS2	HP:0003487	Babinski sign
57505	AARS2	HP:0002151	Increased serum lactate
57505	AARS2	HP:0011923	Decreased activity of mitochondrial complex I
57505	AARS2	HP:0002186	Apraxia
57505	AARS2	HP:0002180	Neurodegeneration
57505	AARS2	HP:0008209	Premature ovarian insufficiency
57505	AARS2	HP:0003596	Middle age onset
57505	AARS2	HP:0003593	Infantile onset
57505	AARS2	HP:0003577	Congenital onset
57505	AARS2	HP:0003557	Increased variability in muscle fiber diameter
57505	AARS2	HP:0008347	Decreased activity of mitochondrial complex IV
57505	AARS2	HP:0011968	Feeding difficulties
57505	AARS2	HP:0003688	Cytochrome C oxidase-negative muscle fibers
57505	AARS2	HP:0002378	Hand tremor
57505	AARS2	HP:0002376	Developmental regression
57505	AARS2	HP:0002371	Loss of speech
57505	AARS2	HP:0003676	Progressive
57505	AARS2	HP:0002353	EEG abnormality
57505	AARS2	HP:0002352	Leukoencephalopathy
57505	AARS2	HP:0003621	Juvenile onset
57505	AARS2	HP:0000639	Nystagmus
57505	AARS2	HP:0001942	Metabolic acidosis
57505	AARS2	HP:0012664	Reduced left ventricular ejection fraction
57505	AARS2	HP:0006980	Progressive leukoencephalopathy
57505	AARS2	HP:0006970	Periventricular leukomalacia
57505	AARS2	HP:0006956	Lateral ventricle dilatation
57505	AARS2	HP:0000716	Depression
57505	AARS2	HP:0000726	Dementia
57505	AARS2	HP:0000709	Psychosis
57505	AARS2	HP:0011463	Childhood onset
57505	AARS2	HP:0011462	Young adult onset
57505	AARS2	HP:0003128	Lactic acidosis
57505	AARS2	HP:0001522	Death in infancy
57505	AARS2	HP:0001508	Failure to thrive
57505	AARS2	HP:0001640	Cardiomegaly
57505	AARS2	HP:0001639	Hypertrophic cardiomyopathy
57505	AARS2	HP:0001635	Congestive heart failure
57511	COG6	HP:0001290	Generalized hypotonia
57511	COG6	HP:0001272	Cerebellar atrophy
57511	COG6	HP:0001250	Seizure
57511	COG6	HP:0001249	Intellectual disability
57511	COG6	HP:0001263	Global developmental delay
57511	COG6	HP:0002536	Abnormal cortical gyration
57511	COG6	HP:0001396	Cholestasis
57511	COG6	HP:0001394	Cirrhosis
57511	COG6	HP:0001385	Hip dysplasia
57511	COG6	HP:0000007	Autosomal recessive inheritance
57511	COG6	HP:0012115	Hepatitis
57511	COG6	HP:0006297	Enamel hypoplasia
57511	COG6	HP:0000122	Unilateral renal agenesis
57511	COG6	HP:0000114	Proximal tubulopathy
57511	COG6	HP:0002719	Recurrent infections
57511	COG6	HP:0002037	Inflammation of the large intestine
57511	COG6	HP:0002028	Chronic diarrhea
57511	COG6	HP:0002079	Hypoplasia of the corpus callosum
57511	COG6	HP:0030948	Elevated gamma-glutamyltransferase level
57511	COG6	HP:0002040	Esophageal varix
57511	COG6	HP:0002059	Cerebral atrophy
57511	COG6	HP:0002119	Ventriculomegaly
57511	COG6	HP:0004719	Hyperechogenic kidneys
57511	COG6	HP:0003577	Congenital onset
57511	COG6	HP:0002240	Hepatomegaly
57511	COG6	HP:0002205	Recurrent respiratory infections
57511	COG6	HP:0000648	Optic atrophy
57511	COG6	HP:0001954	Recurrent fever
57511	COG6	HP:0000670	Carious teeth
57511	COG6	HP:0000750	Delayed speech and language development
57511	COG6	HP:0003155	Elevated circulating alkaline phosphatase concentration
57511	COG6	HP:0003160	Abnormal isoelectric focusing of serum transferrin
57511	COG6	HP:0003236	Elevated circulating creatine kinase concentration
57511	COG6	HP:0100259	Postaxial polydactyly
57511	COG6	HP:0000972	Palmoplantar hyperkeratosis
57511	COG6	HP:0000958	Dry skin
57511	COG6	HP:0000966	Hypohidrosis
57511	COG6	HP:0000962	Hyperkeratosis
57511	COG6	HP:0040196	Mild microcephaly
57511	COG6	HP:0000286	Epicanthus
57511	COG6	HP:0000278	Retrognathia
57511	COG6	HP:0000238	Hydrocephalus
57511	COG6	HP:0000252	Microcephaly
57511	COG6	HP:0025533	Peau d'orange
57511	COG6	HP:0001522	Death in infancy
57511	COG6	HP:0001508	Failure to thrive
57511	COG6	HP:0002848	Decreased specific anti-polysaccharide antibody level
57511	COG6	HP:0001511	Intrauterine growth retardation
57511	COG6	HP:0001510	Growth delay
57511	COG6	HP:0002910	Elevated hepatic transaminase
57511	COG6	HP:0012301	Type II transferrin isoform profile
57511	COG6	HP:0001643	Patent ductus arteriosus
57511	COG6	HP:0001629	Ventricular septal defect
57511	COG6	HP:0001631	Atrial septal defect
57511	COG6	HP:0005338	Sparse lateral eyebrow
57511	COG6	HP:0012471	Thick vermilion border
57511	COG6	HP:0000455	Broad nasal tip
57511	COG6	HP:0012434	Delayed social development
57511	COG6	HP:0001744	Splenomegaly
57511	COG6	HP:0005484	Secondary microcephaly
57511	COG6	HP:0005435	Impaired T cell function
57511	COG6	HP:0001892	Abnormal bleeding
57511	COG6	HP:0001873	Thrombocytopenia
57511	COG6	HP:0001876	Pancytopenia
57514	ARHGAP31	HP:0001171	Split hand
57514	ARHGAP31	HP:0001156	Brachydactyly
57514	ARHGAP31	HP:0009882	Short distal phalanx of finger
57514	ARHGAP31	HP:0001290	Generalized hypotonia
57514	ARHGAP31	HP:0001276	Hypertonia
57514	ARHGAP31	HP:0001269	Hemiparesis
57514	ARHGAP31	HP:0001250	Seizure
57514	ARHGAP31	HP:0001252	Hypotonia
57514	ARHGAP31	HP:0001249	Intellectual disability
57514	ARHGAP31	HP:0001263	Global developmental delay
57514	ARHGAP31	HP:0002558	Supernumerary nipple
57514	ARHGAP31	HP:0006101	Finger syndactyly
57514	ARHGAP31	HP:0002539	Cortical dysplasia
57514	ARHGAP31	HP:0001394	Cirrhosis
57514	ARHGAP31	HP:0001362	Calvarial skull defect
57514	ARHGAP31	HP:0000006	Autosomal dominant inheritance
57514	ARHGAP31	HP:0001302	Pachygyria
57514	ARHGAP31	HP:0002612	Congenital hepatic fibrosis
57514	ARHGAP31	HP:0000175	Cleft palate
57514	ARHGAP31	HP:0007590	Aplasia cutis congenita over posterior parietal area
57514	ARHGAP31	HP:0007589	Aplasia cutis congenita on trunk or limbs
57514	ARHGAP31	HP:0001409	Portal hypertension
57514	ARHGAP31	HP:0002084	Encephalocele
57514	ARHGAP31	HP:0002092	Pulmonary arterial hypertension
57514	ARHGAP31	HP:0002079	Hypoplasia of the corpus callosum
57514	ARHGAP31	HP:0002040	Esophageal varix
57514	ARHGAP31	HP:0005916	Abnormal metacarpal morphology
57514	ARHGAP31	HP:0002119	Ventriculomegaly
57514	ARHGAP31	HP:0002132	Porencephalic cyst
57514	ARHGAP31	HP:0002126	Polymicrogyria
57514	ARHGAP31	HP:0002239	Gastrointestinal hemorrhage
57514	ARHGAP31	HP:0010624	Aplastic/hypoplastic toenail
57514	ARHGAP31	HP:0001057	Aplasia cutis congenita
57514	ARHGAP31	HP:0002353	EEG abnormality
57514	ARHGAP31	HP:0010760	Absent toe
57514	ARHGAP31	HP:0004935	Pulmonary artery atresia
57514	ARHGAP31	HP:0006970	Periventricular leukomalacia
57514	ARHGAP31	HP:0004383	Hypoplastic left heart
57514	ARHGAP31	HP:0100026	Arteriovenous malformation
57514	ARHGAP31	HP:0004415	Pulmonary artery stenosis
57514	ARHGAP31	HP:0000822	Hypertension
57514	ARHGAP31	HP:0000965	Cutis marmorata
57514	ARHGAP31	HP:0008070	Sparse hair
57514	ARHGAP31	HP:0008065	Aplasia/Hypoplasia of the skin
57514	ARHGAP31	HP:0001596	Alopecia
57514	ARHGAP31	HP:0002817	Abnormality of the upper limb
57514	ARHGAP31	HP:0002814	Abnormality of the lower limb
57514	ARHGAP31	HP:0000238	Hydrocephalus
57514	ARHGAP31	HP:0000252	Microcephaly
57514	ARHGAP31	HP:0030011	Imperforate hymen
57514	ARHGAP31	HP:0001541	Ascites
57514	ARHGAP31	HP:0000204	Cleft upper lip
57514	ARHGAP31	HP:0001508	Failure to thrive
57514	ARHGAP31	HP:0001650	Aortic valve stenosis
57514	ARHGAP31	HP:0001647	Bicuspid aortic valve
57514	ARHGAP31	HP:0001642	Pulmonic stenosis
57514	ARHGAP31	HP:0001629	Ventricular septal defect
57514	ARHGAP31	HP:0001622	Premature birth
57514	ARHGAP31	HP:0001641	Abnormal pulmonary valve morphology
57514	ARHGAP31	HP:0001636	Tetralogy of Fallot
57514	ARHGAP31	HP:0001631	Atrial septal defect
57514	ARHGAP31	HP:0004050	Absent hand
57514	ARHGAP31	HP:0000486	Strabismus
57514	ARHGAP31	HP:0001792	Small nail
57514	ARHGAP31	HP:0001770	Toe syndactyly
57514	ARHGAP31	HP:0001762	Talipes equinovarus
57514	ARHGAP31	HP:0000518	Cataract
57514	ARHGAP31	HP:0001804	Hypoplastic fingernail
57514	ARHGAP31	HP:0001817	Absent fingernail
57514	ARHGAP31	HP:0000568	Microphthalmia
57514	ARHGAP31	HP:0000565	Esotropia
57514	ARHGAP31	HP:0001883	Talipes
57514	ARHGAP31	HP:0001882	Leukopenia
57514	ARHGAP31	HP:0001873	Thrombocytopenia
57520	HECW2	HP:0001290	Generalized hypotonia
57520	HECW2	HP:0001250	Seizure
57520	HECW2	HP:0001249	Intellectual disability
57520	HECW2	HP:0001263	Global developmental delay
57520	HECW2	HP:0000006	Autosomal dominant inheritance
57520	HECW2	HP:0000179	Thick lower lip vermilion
57520	HECW2	HP:0000154	Wide mouth
57520	HECW2	HP:0002705	High, narrow palate
57520	HECW2	HP:0011800	Midface retrusion
57520	HECW2	HP:0002059	Cerebral atrophy
57520	HECW2	HP:0040288	Nasogastric tube feeding
57520	HECW2	HP:0002119	Ventriculomegaly
57520	HECW2	HP:0100704	Cerebral visual impairment
57520	HECW2	HP:0100716	Self-injurious behavior
57520	HECW2	HP:0002353	EEG abnormality
57520	HECW2	HP:0000639	Nystagmus
57520	HECW2	HP:0001999	Abnormal facial shape
57520	HECW2	HP:0031936	Delayed ability to walk
57520	HECW2	HP:0100023	Recurrent hand flapping
57520	HECW2	HP:0000729	Autistic behavior
57520	HECW2	HP:0045075	Sparse eyebrow
57520	HECW2	HP:0000938	Osteopenia
57520	HECW2	HP:0000286	Epicanthus
57520	HECW2	HP:0000400	Macrotia
57520	HECW2	HP:0005280	Depressed nasal bridge
57520	HECW2	HP:0000486	Strabismus
57520	HECW2	HP:0000490	Deeply set eye
57520	HECW2	HP:0000463	Anteverted nares
57520	HECW2	HP:0000414	Bulbous nose
57520	HECW2	HP:0000506	Telecanthus
57520	HECW2	HP:0000508	Ptosis
57520	HECW2	HP:0011220	Prominent forehead
57520	HECW2	HP:0000574	Thick eyebrow
57522	SRGAP1	HP:0000006	Autosomal dominant inheritance
57522	SRGAP1	HP:0001428	Somatic mutation
57522	SRGAP1	HP:0040198	Non-medullary thyroid carcinoma
57522	SRGAP1	HP:0002895	Papillary thyroid carcinoma
57522	SRGAP1	HP:0006731	Follicular thyroid carcinoma
57526	PCDH19	HP:0025101	Dysgenesis of the hippocampus
57526	PCDH19	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
57526	PCDH19	HP:0007270	Atypical absence seizure
57526	PCDH19	HP:0007240	Progressive gait ataxia
57526	PCDH19	HP:0010864	Intellectual disability, severe
57526	PCDH19	HP:0001270	Motor delay
57526	PCDH19	HP:0001256	Intellectual disability, mild
57526	PCDH19	HP:0001249	Intellectual disability
57526	PCDH19	HP:0001263	Global developmental delay
57526	PCDH19	HP:0008770	Obsessive-compulsive trait
57526	PCDH19	HP:0007359	Focal-onset seizure
57526	PCDH19	HP:0001327	Photosensitive myoclonic seizure
57526	PCDH19	HP:0001336	Myoclonus
57526	PCDH19	HP:0001300	Parkinsonism
57526	PCDH19	HP:0008947	Infantile muscular hypotonia
57526	PCDH19	HP:0001417	X-linked inheritance
57526	PCDH19	HP:0100543	Cognitive impairment
57526	PCDH19	HP:0002069	Bilateral tonic-clonic seizure
57526	PCDH19	HP:0002067	Bradykinesia
57526	PCDH19	HP:0002063	Rigidity
57526	PCDH19	HP:0002123	Generalized myoclonic seizure
57526	PCDH19	HP:0002121	Generalized non-motor (absence) seizure
57526	PCDH19	HP:0002119	Ventriculomegaly
57526	PCDH19	HP:0002133	Status epilepticus
57526	PCDH19	HP:0002187	Intellectual disability, profound
57526	PCDH19	HP:0003593	Infantile onset
57526	PCDH19	HP:0100710	Impulsivity
57526	PCDH19	HP:0100738	Abnormal eating behavior
57526	PCDH19	HP:0002283	Global brain atrophy
57526	PCDH19	HP:0007010	Poor fine motor coordination
57526	PCDH19	HP:0007018	Attention deficit hyperactivity disorder
57526	PCDH19	HP:0002384	Focal impaired awareness seizure
57526	PCDH19	HP:0002396	Cogwheel rigidity
57526	PCDH19	HP:0002376	Developmental regression
57526	PCDH19	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
57526	PCDH19	HP:0002345	Action tremor
57526	PCDH19	HP:0002342	Intellectual disability, moderate
57526	PCDH19	HP:0002349	Focal aware seizure
57526	PCDH19	HP:0010841	Multifocal epileptiform discharges
57526	PCDH19	HP:0007207	Photosensitive tonic-clonic seizure
57526	PCDH19	HP:0010819	Atonic seizure
57526	PCDH19	HP:0010818	Generalized tonic seizure
57526	PCDH19	HP:0200048	Cyanotic episode
57526	PCDH19	HP:0100694	Tibial torsion
57526	PCDH19	HP:0002311	Incoordination
57526	PCDH19	HP:0002307	Drooling
57526	PCDH19	HP:0006813	Focal hemiclonic seizure
57526	PCDH19	HP:0003066	Limited knee extension
57526	PCDH19	HP:0000752	Hyperactivity
57526	PCDH19	HP:0000739	Anxiety
57526	PCDH19	HP:0000736	Short attention span
57526	PCDH19	HP:0000750	Delayed speech and language development
57526	PCDH19	HP:0000718	Aggressive behavior
57526	PCDH19	HP:0000729	Autistic behavior
57526	PCDH19	HP:0000722	Compulsive behaviors
57526	PCDH19	HP:0000709	Psychosis
57526	PCDH19	HP:0000708	Atypical behavior
57526	PCDH19	HP:0011468	Facial tics
57526	PCDH19	HP:0011463	Childhood onset
57526	PCDH19	HP:0012847	Epilepsia partialis continua
57526	PCDH19	HP:0000980	Pallor
57526	PCDH19	HP:0008081	Pes valgus
57526	PCDH19	HP:0032660	Convulsive status epilepticus
57526	PCDH19	HP:0032810	Focal sensory seizure with cephalic sensation
57526	PCDH19	HP:0031475	Status epilepticus without prominent motor symptoms
57526	PCDH19	HP:0011198	EEG with generalized epileptiform discharges
57526	PCDH19	HP:0011185	EEG with focal epileptiform discharges
57526	PCDH19	HP:0011182	Interictal epileptiform activity
57526	PCDH19	HP:0011169	Generalized clonic seizure
57526	PCDH19	HP:0011172	Complex febrile seizure
57526	PCDH19	HP:0012433	Abnormal social behavior
57526	PCDH19	HP:0000466	Limited neck range of motion
57526	PCDH19	HP:0001763	Pes planus
57531	HACE1	HP:0001290	Generalized hypotonia
57531	HACE1	HP:0001250	Seizure
57531	HACE1	HP:0001252	Hypotonia
57531	HACE1	HP:0001251	Ataxia
57531	HACE1	HP:0001249	Intellectual disability
57531	HACE1	HP:0001260	Dysarthria
57531	HACE1	HP:0001263	Global developmental delay
57531	HACE1	HP:0001257	Spasticity
57531	HACE1	HP:0031087	Absent pubertal growth spurt
57531	HACE1	HP:0002540	Inability to walk
57531	HACE1	HP:0002515	Waddling gait
57531	HACE1	HP:0000020	Urinary incontinence
57531	HACE1	HP:0025313	Exophoria
57531	HACE1	HP:0001332	Dystonia
57531	HACE1	HP:0000007	Autosomal recessive inheritance
57531	HACE1	HP:0002650	Scoliosis
57531	HACE1	HP:0008936	Axial hypotonia
57531	HACE1	HP:0001437	Abnormality of the musculature of the lower limbs
57531	HACE1	HP:0002714	Downturned corners of mouth
57531	HACE1	HP:0002069	Bilateral tonic-clonic seizure
57531	HACE1	HP:0002061	Lower limb spasticity
57531	HACE1	HP:0002079	Hypoplasia of the corpus callosum
57531	HACE1	HP:0002059	Cerebral atrophy
57531	HACE1	HP:0002123	Generalized myoclonic seizure
57531	HACE1	HP:0002136	Broad-based gait
57531	HACE1	HP:0008373	Puberty and gonadal disorders
57531	HACE1	HP:0007020	Progressive spastic paraplegia
57531	HACE1	HP:0011976	Elevated urinary catecholamines
57531	HACE1	HP:0002380	Fasciculations
57531	HACE1	HP:0002376	Developmental regression
57531	HACE1	HP:0002355	Difficulty walking
57531	HACE1	HP:0002317	Unsteady gait
57531	HACE1	HP:0004322	Short stature
57531	HACE1	HP:0004375	Neoplasm of the nervous system
57531	HACE1	HP:0011401	Delayed peripheral myelination
57531	HACE1	HP:0000750	Delayed speech and language development
57531	HACE1	HP:0012762	Cerebral white matter atrophy
57531	HACE1	HP:0010219	Structural foot deformity
57531	HACE1	HP:0002827	Hip dislocation
57531	HACE1	HP:0002808	Kyphosis
57531	HACE1	HP:0000252	Microcephaly
57531	HACE1	HP:0001513	Obesity
57531	HACE1	HP:0002938	Lumbar hyperlordosis
57531	HACE1	HP:0000316	Hypertelorism
57531	HACE1	HP:0011166	Focal myoclonic seizure
57531	HACE1	HP:0000407	Sensorineural hearing impairment
57531	HACE1	HP:0000486	Strabismus
57531	HACE1	HP:0000490	Deeply set eye
57531	HACE1	HP:0012448	Delayed myelination
57531	HACE1	HP:0001762	Talipes equinovarus
57531	HACE1	HP:0000556	Retinal dystrophy
57531	HACE1	HP:0000545	Myopia
57534	MIB1	HP:0000006	Autosomal dominant inheritance
57534	MIB1	HP:0030682	Left ventricular noncompaction
57534	MIB1	HP:0011664	Left ventricular noncompaction cardiomyopathy
57538	ALPK3	HP:0025168	Left ventricular diastolic dysfunction
57538	ALPK3	HP:0000007	Autosomal recessive inheritance
57538	ALPK3	HP:0002119	Ventriculomegaly
57538	ALPK3	HP:0003593	Infantile onset
57538	ALPK3	HP:0003577	Congenital onset
57538	ALPK3	HP:0001059	Pterygium
57538	ALPK3	HP:0034197	Third trimester onset
57538	ALPK3	HP:0034198	Second trimester onset
57538	ALPK3	HP:0011463	Childhood onset
57538	ALPK3	HP:0005144	Ventricular septal hypertrophy
57538	ALPK3	HP:0031319	Cardiomyocyte hypertrophy
57538	ALPK3	HP:0005180	Tricuspid regurgitation
57538	ALPK3	HP:0005157	Concentric hypertrophic cardiomyopathy
57538	ALPK3	HP:0001695	Cardiac arrest
57538	ALPK3	HP:0001667	Right ventricular hypertrophy
57538	ALPK3	HP:0001657	Prolonged QT interval
57538	ALPK3	HP:0001653	Mitral regurgitation
57538	ALPK3	HP:0001640	Cardiomegaly
57538	ALPK3	HP:0001639	Hypertrophic cardiomyopathy
57538	ALPK3	HP:0001635	Congestive heart failure
57538	ALPK3	HP:0006670	Impaired myocardial contractility
57538	ALPK3	HP:0001706	Endocardial fibroelastosis
57538	ALPK3	HP:0001790	Nonimmune hydrops fetalis
57539	WDR35	HP:0001177	Preaxial hand polydactyly
57539	WDR35	HP:0001156	Brachydactyly
57539	WDR35	HP:0001162	Postaxial hand polydactyly
57539	WDR35	HP:0001159	Syndactyly
57539	WDR35	HP:0020206	Simple ear
57539	WDR35	HP:0009882	Short distal phalanx of finger
57539	WDR35	HP:0003762	Uterus didelphys
57539	WDR35	HP:0001274	Agenesis of corpus callosum
57539	WDR35	HP:0001249	Intellectual disability
57539	WDR35	HP:0001263	Global developmental delay
57539	WDR35	HP:0001231	Abnormal fingernail morphology
57539	WDR35	HP:0006101	Finger syndactyly
57539	WDR35	HP:0100840	Aplasia/Hypoplasia of the eyebrow
57539	WDR35	HP:0008736	Hypoplasia of penis
57539	WDR35	HP:0008716	Urethrovaginal fistula
57539	WDR35	HP:0000089	Renal hypoplasia
57539	WDR35	HP:0000083	Renal insufficiency
57539	WDR35	HP:0001396	Cholestasis
57539	WDR35	HP:0000062	Ambiguous genitalia
57539	WDR35	HP:0001395	Hepatic fibrosis
57539	WDR35	HP:0001388	Joint laxity
57539	WDR35	HP:0000047	Hypospadias
57539	WDR35	HP:0000023	Inguinal hernia
57539	WDR35	HP:0002676	Cloverleaf skull
57539	WDR35	HP:0001363	Craniosynostosis
57539	WDR35	HP:0001357	Plagiocephaly
57539	WDR35	HP:0000028	Cryptorchidism
57539	WDR35	HP:0008873	Disproportionate short-limb short stature
57539	WDR35	HP:0000007	Autosomal recessive inheritance
57539	WDR35	HP:0001305	Dandy-Walker malformation
57539	WDR35	HP:0001321	Cerebellar hypoplasia
57539	WDR35	HP:0002612	Congenital hepatic fibrosis
57539	WDR35	HP:0002613	Biliary cirrhosis
57539	WDR35	HP:0008905	Rhizomelia
57539	WDR35	HP:0000164	Abnormality of the dentition
57539	WDR35	HP:0000175	Cleft palate
57539	WDR35	HP:0007687	Unilateral ptosis
57539	WDR35	HP:0006349	Agenesis of permanent teeth
57539	WDR35	HP:0000113	Polycystic kidney dysplasia
57539	WDR35	HP:0000126	Hydronephrosis
57539	WDR35	HP:0000107	Renal cyst
57539	WDR35	HP:0001408	Bile duct proliferation
57539	WDR35	HP:0002023	Anal atresia
57539	WDR35	HP:0002032	Esophageal atresia
57539	WDR35	HP:0002007	Frontal bossing
57539	WDR35	HP:0002006	Facial cleft
57539	WDR35	HP:0011800	Midface retrusion
57539	WDR35	HP:0002089	Pulmonary hypoplasia
57539	WDR35	HP:0002093	Respiratory insufficiency
57539	WDR35	HP:0010442	Polydactyly
57539	WDR35	HP:0002119	Ventriculomegaly
57539	WDR35	HP:0002164	Nail dysplasia
57539	WDR35	HP:0010564	Bifid epiglottis
57539	WDR35	HP:0003577	Congenital onset
57539	WDR35	HP:0002240	Hepatomegaly
57539	WDR35	HP:0002213	Fine hair
57539	WDR35	HP:0008388	Abnormal toenail morphology
57539	WDR35	HP:0010812	Short uvula
57539	WDR35	HP:0008499	High hypermetropia
57539	WDR35	HP:0004209	Clinodactyly of the 5th finger
57539	WDR35	HP:0004279	Short palm
57539	WDR35	HP:0000639	Nystagmus
57539	WDR35	HP:0000601	Hypotelorism
57539	WDR35	HP:0000682	Abnormal dental enamel morphology
57539	WDR35	HP:0000679	Taurodontia
57539	WDR35	HP:0000691	Microdontia
57539	WDR35	HP:0011330	Metopic synostosis
57539	WDR35	HP:0000687	Widely spaced teeth
57539	WDR35	HP:0000653	Sparse eyelashes
57539	WDR35	HP:0000668	Hypodontia
57539	WDR35	HP:0004322	Short stature
57539	WDR35	HP:0030680	Abnormality of cardiovascular system morphology
57539	WDR35	HP:0004397	Ectopic anus
57539	WDR35	HP:0005692	Joint hyperflexibility
57539	WDR35	HP:0003026	Short long bone
57539	WDR35	HP:0003027	Mesomelia
57539	WDR35	HP:0009106	Abnormal pelvis bone ossification
57539	WDR35	HP:0000767	Pectus excavatum
57539	WDR35	HP:0000774	Narrow chest
57539	WDR35	HP:0000773	Short ribs
57539	WDR35	HP:0005716	Lethal skeletal dysplasia
57539	WDR35	HP:0003180	Flat acetabular roof
57539	WDR35	HP:0000882	Hypoplastic scapulae
57539	WDR35	HP:0000888	Horizontal ribs
57539	WDR35	HP:0000822	Hypertension
57539	WDR35	HP:0010297	Bifid tongue
57539	WDR35	HP:0003270	Abdominal distention
57539	WDR35	HP:0045075	Sparse eyebrow
57539	WDR35	HP:0004599	Absent or minimally ossified vertebral bodies
57539	WDR35	HP:0100259	Postaxial polydactyly
57539	WDR35	HP:0010306	Short thorax
57539	WDR35	HP:0000973	Cutis laxa
57539	WDR35	HP:0000968	Ectodermal dysplasia
57539	WDR35	HP:0000939	Osteoporosis
57539	WDR35	HP:0045025	Narrow palpebral fissure
57539	WDR35	HP:0000944	Abnormal metaphysis morphology
57539	WDR35	HP:0000940	Abnormal diaphysis morphology
57539	WDR35	HP:0008070	Sparse hair
57539	WDR35	HP:0000286	Epicanthus
57539	WDR35	HP:0000278	Retrognathia
57539	WDR35	HP:0000293	Full cheeks
57539	WDR35	HP:0000289	Broad philtrum
57539	WDR35	HP:0000256	Macrocephaly
57539	WDR35	HP:0000268	Dolichocephaly
57539	WDR35	HP:0000269	Prominent occiput
57539	WDR35	HP:0030084	Clinodactyly
57539	WDR35	HP:0000218	High palate
57539	WDR35	HP:0001561	Polyhydramnios
57539	WDR35	HP:0000232	Everted lower lip vermilion
57539	WDR35	HP:0000200	Short lingual frenulum
57539	WDR35	HP:0001541	Ascites
57539	WDR35	HP:0001539	Omphalocele
57539	WDR35	HP:0000204	Cleft upper lip
57539	WDR35	HP:0011090	Fused teeth
57539	WDR35	HP:0006580	Portal fibrosis
57539	WDR35	HP:0006532	Recurrent pneumonia
57539	WDR35	HP:0002910	Elevated hepatic transaminase
57539	WDR35	HP:0002904	Hyperbilirubinemia
57539	WDR35	HP:0006487	Bowing of the long bones
57539	WDR35	HP:0000369	Low-set ears
57539	WDR35	HP:0000341	Narrow forehead
57539	WDR35	HP:0000343	Long philtrum
57539	WDR35	HP:0000348	High forehead
57539	WDR35	HP:0000347	Micrognathia
57539	WDR35	HP:0002983	Micromelia
57539	WDR35	HP:0000319	Smooth philtrum
57539	WDR35	HP:0000316	Hypertelorism
57539	WDR35	HP:0001643	Patent ductus arteriosus
57539	WDR35	HP:0030151	Cholangitis
57539	WDR35	HP:0001655	Patent foramen ovale
57539	WDR35	HP:0001631	Atrial septal defect
57539	WDR35	HP:0006644	Thoracic dysplasia
57539	WDR35	HP:0001712	Left ventricular hypertrophy
57539	WDR35	HP:0005280	Depressed nasal bridge
57539	WDR35	HP:0000486	Strabismus
57539	WDR35	HP:0000476	Cystic hygroma
57539	WDR35	HP:0000463	Anteverted nares
57539	WDR35	HP:0001789	Hydrops fetalis
57539	WDR35	HP:0000470	Short neck
57539	WDR35	HP:0001773	Short foot
57539	WDR35	HP:0000445	Wide nose
57539	WDR35	HP:0001748	Polysplenia
57539	WDR35	HP:0001744	Splenomegaly
57539	WDR35	HP:0000431	Wide nasal bridge
57539	WDR35	HP:0000518	Cataract
57539	WDR35	HP:0000506	Telecanthus
57539	WDR35	HP:0000582	Upslanted palpebral fissure
57539	WDR35	HP:0000581	Blepharophimosis
57539	WDR35	HP:0000540	Hypermetropia
57539	WDR35	HP:0000545	Myopia
57545	CC2D2A	HP:0001177	Preaxial hand polydactyly
57545	CC2D2A	HP:0001162	Postaxial hand polydactyly
57545	CC2D2A	HP:0001161	Hand polydactyly
57545	CC2D2A	HP:0001133	Constriction of peripheral visual field
57545	CC2D2A	HP:0003774	Stage 5 chronic kidney disease
57545	CC2D2A	HP:0002419	Molar tooth sign on MRI
57545	CC2D2A	HP:0001274	Agenesis of corpus callosum
57545	CC2D2A	HP:0001288	Gait disturbance
57545	CC2D2A	HP:0001250	Seizure
57545	CC2D2A	HP:0001252	Hypotonia
57545	CC2D2A	HP:0001251	Ataxia
57545	CC2D2A	HP:0001249	Intellectual disability
57545	CC2D2A	HP:0001263	Global developmental delay
57545	CC2D2A	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
57545	CC2D2A	HP:0007360	Aplasia/Hypoplasia of the cerebellum
57545	CC2D2A	HP:0002553	Highly arched eyebrow
57545	CC2D2A	HP:0000083	Renal insufficiency
57545	CC2D2A	HP:0000085	Horseshoe kidney
57545	CC2D2A	HP:0000068	Urethral atresia
57545	CC2D2A	HP:0000062	Ambiguous genitalia
57545	CC2D2A	HP:0001395	Hepatic fibrosis
57545	CC2D2A	HP:0001394	Cirrhosis
57545	CC2D2A	HP:0000073	Ureteral duplication
57545	CC2D2A	HP:0000037	Male pseudohermaphroditism
57545	CC2D2A	HP:0000023	Inguinal hernia
57545	CC2D2A	HP:0001347	Hyperreflexia
57545	CC2D2A	HP:0000028	Cryptorchidism
57545	CC2D2A	HP:0008872	Feeding difficulties in infancy
57545	CC2D2A	HP:0000007	Autosomal recessive inheritance
57545	CC2D2A	HP:0000003	Multicystic kidney dysplasia
57545	CC2D2A	HP:0001337	Tremor
57545	CC2D2A	HP:0001305	Dandy-Walker malformation
57545	CC2D2A	HP:0001320	Cerebellar vermis hypoplasia
57545	CC2D2A	HP:0002650	Scoliosis
57545	CC2D2A	HP:0002612	Congenital hepatic fibrosis
57545	CC2D2A	HP:0000175	Cleft palate
57545	CC2D2A	HP:0007663	Reduced visual acuity
57545	CC2D2A	HP:0002793	Abnormal pattern of respiration
57545	CC2D2A	HP:0002789	Tachypnea
57545	CC2D2A	HP:0000112	Nephropathy
57545	CC2D2A	HP:0000107	Renal cyst
57545	CC2D2A	HP:0001409	Portal hypertension
57545	CC2D2A	HP:0001408	Bile duct proliferation
57545	CC2D2A	HP:0001407	Hepatic cysts
57545	CC2D2A	HP:0005949	Apneic episodes in infancy
57545	CC2D2A	HP:0033183	Bilobed right lung
57545	CC2D2A	HP:0002089	Pulmonary hypoplasia
57545	CC2D2A	HP:0002085	Occipital encephalocele
57545	CC2D2A	HP:0002084	Encephalocele
57545	CC2D2A	HP:0010477	Aplasia of the bladder
57545	CC2D2A	HP:0010459	True hermaphroditism
57545	CC2D2A	HP:0002119	Ventriculomegaly
57545	CC2D2A	HP:0002104	Apnea
57545	CC2D2A	HP:0004719	Hyperechogenic kidneys
57545	CC2D2A	HP:0002269	Abnormality of neuronal migration
57545	CC2D2A	HP:0003577	Congenital onset
57545	CC2D2A	HP:0002240	Hepatomegaly
57545	CC2D2A	HP:0100704	Cerebral visual impairment
57545	CC2D2A	HP:0002251	Aganglionic megacolon
57545	CC2D2A	HP:0100732	Pancreatic fibrosis
57545	CC2D2A	HP:0032027	Retinal dots
57545	CC2D2A	HP:0002342	Intellectual disability, moderate
57545	CC2D2A	HP:0002323	Anencephaly
57545	CC2D2A	HP:0100626	Chronic hepatic failure
57545	CC2D2A	HP:0006870	Lobar holoprosencephaly
57545	CC2D2A	HP:0000639	Nystagmus
57545	CC2D2A	HP:0000648	Optic atrophy
57545	CC2D2A	HP:0000647	Sclerocornea
57545	CC2D2A	HP:0000618	Blindness
57545	CC2D2A	HP:0000612	Iris coloboma
57545	CC2D2A	HP:0000657	Oculomotor apraxia
57545	CC2D2A	HP:0030680	Abnormality of cardiovascular system morphology
57545	CC2D2A	HP:0000729	Autistic behavior
57545	CC2D2A	HP:0000708	Atypical behavior
57545	CC2D2A	HP:0011467	Absent gallbladder
57545	CC2D2A	HP:0011462	Young adult onset
57545	CC2D2A	HP:0011461	Fetal onset
57545	CC2D2A	HP:0004422	Biparietal narrowing
57545	CC2D2A	HP:0000864	Abnormality of the hypothalamus-pituitary axis
57545	CC2D2A	HP:0000812	Abnormal internal genitalia
57545	CC2D2A	HP:0000822	Hypertension
57545	CC2D2A	HP:0010295	Aplasia/Hypoplasia of the tongue
57545	CC2D2A	HP:0003259	Elevated circulating creatinine concentration
57545	CC2D2A	HP:0008053	Aplasia/Hypoplasia of the iris
57545	CC2D2A	HP:0000293	Full cheeks
57545	CC2D2A	HP:0000256	Macrocephaly
57545	CC2D2A	HP:0000276	Long face
57545	CC2D2A	HP:0000238	Hydrocephalus
57545	CC2D2A	HP:0002896	Neoplasm of the liver
57545	CC2D2A	HP:0000252	Microcephaly
57545	CC2D2A	HP:0000221	Furrowed tongue
57545	CC2D2A	HP:0002876	Episodic tachypnea
57545	CC2D2A	HP:0001562	Oligohydramnios
57545	CC2D2A	HP:0000202	Orofacial cleft
57545	CC2D2A	HP:0000204	Cleft upper lip
57545	CC2D2A	HP:0006580	Portal fibrosis
57545	CC2D2A	HP:0005248	Intrahepatic biliary atresia
57545	CC2D2A	HP:0002910	Elevated hepatic transaminase
57545	CC2D2A	HP:0006487	Bowing of the long bones
57545	CC2D2A	HP:0001696	Situs inversus totalis
57545	CC2D2A	HP:0000369	Low-set ears
57545	CC2D2A	HP:0000368	Low-set, posteriorly rotated ears
57545	CC2D2A	HP:0000340	Sloping forehead
57545	CC2D2A	HP:0000347	Micrognathia
57545	CC2D2A	HP:0000316	Hypertelorism
57545	CC2D2A	HP:0001737	Pancreatic cysts
57545	CC2D2A	HP:0000483	Astigmatism
57545	CC2D2A	HP:0000486	Strabismus
57545	CC2D2A	HP:0000482	Microcornea
57545	CC2D2A	HP:0000463	Anteverted nares
57545	CC2D2A	HP:0000457	Depressed nasal ridge
57545	CC2D2A	HP:0001746	Asplenia
57545	CC2D2A	HP:0001747	Accessory spleen
57545	CC2D2A	HP:0001744	Splenomegaly
57545	CC2D2A	HP:0001762	Talipes equinovarus
57545	CC2D2A	HP:0000426	Prominent nasal bridge
57545	CC2D2A	HP:0006706	Cystic liver disease
57545	CC2D2A	HP:0000518	Cataract
57545	CC2D2A	HP:0000510	Rod-cone dystrophy
57545	CC2D2A	HP:0000528	Anophthalmia
57545	CC2D2A	HP:0001829	Foot polydactyly
57545	CC2D2A	HP:0000508	Ptosis
57545	CC2D2A	HP:0000505	Visual impairment
57545	CC2D2A	HP:0001830	Postaxial foot polydactyly
57545	CC2D2A	HP:0000589	Coloboma
57545	CC2D2A	HP:0000588	Optic disc coloboma
57545	CC2D2A	HP:0000556	Retinal dystrophy
57545	CC2D2A	HP:0000568	Microphthalmia
57545	CC2D2A	HP:0000567	Chorioretinal coloboma
57545	CC2D2A	HP:0000532	Abnormal chorioretinal morphology
57545	CC2D2A	HP:0000550	Undetectable electroretinogram
57545	CC2D2A	HP:0001883	Talipes
57551	TAOK1	HP:0001134	Anterior polar cataract
57551	TAOK1	HP:0025161	Frequent temper tantrums
57551	TAOK1	HP:0002415	Leukodystrophy
57551	TAOK1	HP:0001270	Motor delay
57551	TAOK1	HP:0001250	Seizure
57551	TAOK1	HP:0001252	Hypotonia
57551	TAOK1	HP:0001249	Intellectual disability
57551	TAOK1	HP:0001265	Hyporeflexia
57551	TAOK1	HP:0001263	Global developmental delay
57551	TAOK1	HP:0002573	Hematochezia
57551	TAOK1	HP:0001382	Joint hypermobility
57551	TAOK1	HP:0000006	Autosomal dominant inheritance
57551	TAOK1	HP:0012168	Head-banging
57551	TAOK1	HP:0002705	High, narrow palate
57551	TAOK1	HP:0002003	Large forehead
57551	TAOK1	HP:0100716	Self-injurious behavior
57551	TAOK1	HP:0002205	Recurrent respiratory infections
57551	TAOK1	HP:0007018	Attention deficit hyperactivity disorder
57551	TAOK1	HP:0011968	Feeding difficulties
57551	TAOK1	HP:0007099	Chiari type I malformation
57551	TAOK1	HP:0007082	Dilated third ventricle
57551	TAOK1	HP:0008499	High hypermetropia
57551	TAOK1	HP:0004969	Peripheral pulmonary artery stenosis
57551	TAOK1	HP:0000639	Nystagmus
57551	TAOK1	HP:0001947	Renal tubular acidosis
57551	TAOK1	HP:0001942	Metabolic acidosis
57551	TAOK1	HP:0004322	Short stature
57551	TAOK1	HP:0006956	Lateral ventricle dilatation
57551	TAOK1	HP:0011410	Caesarian section
57551	TAOK1	HP:0000736	Short attention span
57551	TAOK1	HP:0000750	Delayed speech and language development
57551	TAOK1	HP:0000717	Autism
57551	TAOK1	HP:0000729	Autistic behavior
57551	TAOK1	HP:0000256	Macrocephaly
57551	TAOK1	HP:0000238	Hydrocephalus
57551	TAOK1	HP:0025502	Overweight
57551	TAOK1	HP:0001508	Failure to thrive
57551	TAOK1	HP:0000369	Low-set ears
57551	TAOK1	HP:0000348	High forehead
57551	TAOK1	HP:0000316	Hypertelorism
57551	TAOK1	HP:0000322	Short philtrum
57551	TAOK1	HP:0000325	Triangular face
57551	TAOK1	HP:0001629	Ventricular septal defect
57551	TAOK1	HP:0000407	Sensorineural hearing impairment
57551	TAOK1	HP:0000403	Recurrent otitis media
57551	TAOK1	HP:0005280	Depressed nasal bridge
57551	TAOK1	HP:0000486	Strabismus
57551	TAOK1	HP:0012450	Chronic constipation
57551	TAOK1	HP:0001763	Pes planus
57551	TAOK1	HP:0000505	Visual impairment
57551	TAOK1	HP:0000540	Hypermetropia
57560	IFT80	HP:0001177	Preaxial hand polydactyly
57560	IFT80	HP:0001169	Broad palm
57560	IFT80	HP:0001156	Brachydactyly
57560	IFT80	HP:0001162	Postaxial hand polydactyly
57560	IFT80	HP:0003762	Uterus didelphys
57560	IFT80	HP:0001274	Agenesis of corpus callosum
57560	IFT80	HP:0008736	Hypoplasia of penis
57560	IFT80	HP:0008716	Urethrovaginal fistula
57560	IFT80	HP:0000089	Renal hypoplasia
57560	IFT80	HP:0000083	Renal insufficiency
57560	IFT80	HP:0000090	Nephronophthisis
57560	IFT80	HP:0000062	Ambiguous genitalia
57560	IFT80	HP:0001392	Abnormality of the liver
57560	IFT80	HP:0000028	Cryptorchidism
57560	IFT80	HP:0008873	Disproportionate short-limb short stature
57560	IFT80	HP:0008872	Feeding difficulties in infancy
57560	IFT80	HP:0000007	Autosomal recessive inheritance
57560	IFT80	HP:0001305	Dandy-Walker malformation
57560	IFT80	HP:0002652	Skeletal dysplasia
57560	IFT80	HP:0001321	Cerebellar hypoplasia
57560	IFT80	HP:0002644	Abnormal pelvic girdle bone morphology
57560	IFT80	HP:0002612	Congenital hepatic fibrosis
57560	IFT80	HP:0008905	Rhizomelia
57560	IFT80	HP:0000126	Hydronephrosis
57560	IFT80	HP:0000112	Nephropathy
57560	IFT80	HP:0000107	Renal cyst
57560	IFT80	HP:0002023	Anal atresia
57560	IFT80	HP:0002032	Esophageal atresia
57560	IFT80	HP:0002007	Frontal bossing
57560	IFT80	HP:0002006	Facial cleft
57560	IFT80	HP:0002089	Pulmonary hypoplasia
57560	IFT80	HP:0002093	Respiratory insufficiency
57560	IFT80	HP:0002119	Ventriculomegaly
57560	IFT80	HP:0010564	Bifid epiglottis
57560	IFT80	HP:0010579	Cone-shaped epiphysis
57560	IFT80	HP:0004279	Short palm
57560	IFT80	HP:0010049	Short metacarpal
57560	IFT80	HP:0004322	Short stature
57560	IFT80	HP:0030680	Abnormality of cardiovascular system morphology
57560	IFT80	HP:0004397	Ectopic anus
57560	IFT80	HP:0003027	Mesomelia
57560	IFT80	HP:0009106	Abnormal pelvis bone ossification
57560	IFT80	HP:0000772	Abnormal rib morphology
57560	IFT80	HP:0000766	Abnormal sternum morphology
57560	IFT80	HP:0000774	Narrow chest
57560	IFT80	HP:0000773	Short ribs
57560	IFT80	HP:0005716	Lethal skeletal dysplasia
57560	IFT80	HP:0000889	Abnormal clavicle morphology
57560	IFT80	HP:0010297	Bifid tongue
57560	IFT80	HP:0003270	Abdominal distention
57560	IFT80	HP:0004599	Absent or minimally ossified vertebral bodies
57560	IFT80	HP:0010306	Short thorax
57560	IFT80	HP:0000944	Abnormal metaphysis morphology
57560	IFT80	HP:0007703	Abnormality of retinal pigmentation
57560	IFT80	HP:0000286	Epicanthus
57560	IFT80	HP:0000256	Macrocephaly
57560	IFT80	HP:0001539	Omphalocele
57560	IFT80	HP:0000204	Cleft upper lip
57560	IFT80	HP:0000343	Long philtrum
57560	IFT80	HP:0000347	Micrognathia
57560	IFT80	HP:0002983	Micromelia
57560	IFT80	HP:0005280	Depressed nasal bridge
57560	IFT80	HP:0001789	Hydrops fetalis
57560	IFT80	HP:0001770	Toe syndactyly
57560	IFT80	HP:0001773	Short foot
57560	IFT80	HP:0000445	Wide nose
57560	IFT80	HP:0006703	Aplasia/Hypoplasia of the lungs
57560	IFT80	HP:0000518	Cataract
57560	IFT80	HP:0001830	Postaxial foot polydactyly
57562	CEP126	HP:0001324	Muscle weakness
57562	CEP126	HP:0001337	Tremor
57562	CEP126	HP:0002715	Abnormality of the immune system
57562	CEP126	HP:0003457	EMG abnormality
57562	CEP126	HP:0002380	Fasciculations
57562	CEP126	HP:0002398	Degeneration of anterior horn cells
57562	CEP126	HP:0007149	Distal upper limb amyotrophy
57562	CEP126	HP:0100022	Abnormality of movement
57562	CEP126	HP:0003134	Abnormality of peripheral nerve conduction
57562	CEP126	HP:0002817	Abnormality of the upper limb
57570	TRMT5	HP:0002465	Poor speech
57570	TRMT5	HP:0001276	Hypertonia
57570	TRMT5	HP:0001252	Hypotonia
57570	TRMT5	HP:0001265	Hyporeflexia
57570	TRMT5	HP:0001263	Global developmental delay
57570	TRMT5	HP:0001257	Spasticity
57570	TRMT5	HP:0001394	Cirrhosis
57570	TRMT5	HP:0001347	Hyperreflexia
57570	TRMT5	HP:0001324	Muscle weakness
57570	TRMT5	HP:0000007	Autosomal recessive inheritance
57570	TRMT5	HP:0001337	Tremor
57570	TRMT5	HP:0000160	Narrow mouth
57570	TRMT5	HP:0000124	Renal tubular dysfunction
57570	TRMT5	HP:0002024	Malabsorption
57570	TRMT5	HP:0002017	Nausea and vomiting
57570	TRMT5	HP:0004691	2-3 toe syndactyly
57570	TRMT5	HP:0002094	Dyspnea
57570	TRMT5	HP:0003487	Babinski sign
57570	TRMT5	HP:0002151	Increased serum lactate
57570	TRMT5	HP:0011924	Decreased activity of mitochondrial complex III
57570	TRMT5	HP:0011923	Decreased activity of mitochondrial complex I
57570	TRMT5	HP:0002188	Delayed CNS myelination
57570	TRMT5	HP:0003546	Exercise intolerance
57570	TRMT5	HP:0008347	Decreased activity of mitochondrial complex IV
57570	TRMT5	HP:0011968	Feeding difficulties
57570	TRMT5	HP:0003698	Difficulty standing
57570	TRMT5	HP:0003688	Cytochrome C oxidase-negative muscle fibers
57570	TRMT5	HP:0009830	Peripheral neuropathy
57570	TRMT5	HP:0003623	Neonatal onset
57570	TRMT5	HP:0001952	Glucose intolerance
57570	TRMT5	HP:0003076	Glycosuria
57570	TRMT5	HP:0000737	Irritability
57570	TRMT5	HP:0011462	Young adult onset
57570	TRMT5	HP:0003128	Lactic acidosis
57570	TRMT5	HP:0040217	Elevated hemoglobin A1c
57570	TRMT5	HP:0002875	Exertional dyspnea
57570	TRMT5	HP:0001508	Failure to thrive
57570	TRMT5	HP:0000325	Triangular face
57570	TRMT5	HP:0001639	Hypertrophic cardiomyopathy
57570	TRMT5	HP:0001738	Exocrine pancreatic insufficiency
57570	TRMT5	HP:0012444	Brain atrophy
57570	TRMT5	HP:0000592	Blue sclerae
57572	DOCK6	HP:0001171	Split hand
57572	DOCK6	HP:0001156	Brachydactyly
57572	DOCK6	HP:0009882	Short distal phalanx of finger
57572	DOCK6	HP:0001276	Hypertonia
57572	DOCK6	HP:0001269	Hemiparesis
57572	DOCK6	HP:0001250	Seizure
57572	DOCK6	HP:0001252	Hypotonia
57572	DOCK6	HP:0001249	Intellectual disability
57572	DOCK6	HP:0001263	Global developmental delay
57572	DOCK6	HP:0006101	Finger syndactyly
57572	DOCK6	HP:0002509	Limb hypertonia
57572	DOCK6	HP:0001394	Cirrhosis
57572	DOCK6	HP:0001362	Calvarial skull defect
57572	DOCK6	HP:0000007	Autosomal recessive inheritance
57572	DOCK6	HP:0001321	Cerebellar hypoplasia
57572	DOCK6	HP:0002612	Congenital hepatic fibrosis
57572	DOCK6	HP:0008936	Axial hypotonia
57572	DOCK6	HP:0001409	Portal hypertension
57572	DOCK6	HP:0002084	Encephalocele
57572	DOCK6	HP:0002092	Pulmonary arterial hypertension
57572	DOCK6	HP:0002040	Esophageal varix
57572	DOCK6	HP:0002059	Cerebral atrophy
57572	DOCK6	HP:0005916	Abnormal metacarpal morphology
57572	DOCK6	HP:0002132	Porencephalic cyst
57572	DOCK6	HP:0002126	Polymicrogyria
57572	DOCK6	HP:0003577	Congenital onset
57572	DOCK6	HP:0002239	Gastrointestinal hemorrhage
57572	DOCK6	HP:0010624	Aplastic/hypoplastic toenail
57572	DOCK6	HP:0001057	Aplasia cutis congenita
57572	DOCK6	HP:0002353	EEG abnormality
57572	DOCK6	HP:0010760	Absent toe
57572	DOCK6	HP:0004935	Pulmonary artery atresia
57572	DOCK6	HP:0000648	Optic atrophy
57572	DOCK6	HP:0011344	Severe global developmental delay
57572	DOCK6	HP:0006970	Periventricular leukomalacia
57572	DOCK6	HP:0006956	Lateral ventricle dilatation
57572	DOCK6	HP:0006951	Retrocerebellar cyst
57572	DOCK6	HP:0100026	Arteriovenous malformation
57572	DOCK6	HP:0000750	Delayed speech and language development
57572	DOCK6	HP:0000954	Single transverse palmar crease
57572	DOCK6	HP:0000965	Cutis marmorata
57572	DOCK6	HP:0045025	Narrow palpebral fissure
57572	DOCK6	HP:0005807	Absent distal phalanges
57572	DOCK6	HP:0005819	Short middle phalanx of finger
57572	DOCK6	HP:0008070	Sparse hair
57572	DOCK6	HP:0008065	Aplasia/Hypoplasia of the skin
57572	DOCK6	HP:0000294	Low anterior hairline
57572	DOCK6	HP:0001596	Alopecia
57572	DOCK6	HP:0000256	Macrocephaly
57572	DOCK6	HP:0002817	Abnormality of the upper limb
57572	DOCK6	HP:0002814	Abnormality of the lower limb
57572	DOCK6	HP:0000238	Hydrocephalus
57572	DOCK6	HP:0000252	Microcephaly
57572	DOCK6	HP:0001562	Oligohydramnios
57572	DOCK6	HP:0001558	Decreased fetal movement
57572	DOCK6	HP:0001541	Ascites
57572	DOCK6	HP:0001508	Failure to thrive
57572	DOCK6	HP:0000369	Low-set ears
57572	DOCK6	HP:0000347	Micrognathia
57572	DOCK6	HP:0000316	Hypertelorism
57572	DOCK6	HP:0001622	Premature birth
57572	DOCK6	HP:0001641	Abnormal pulmonary valve morphology
57572	DOCK6	HP:0001636	Tetralogy of Fallot
57572	DOCK6	HP:0004050	Absent hand
57572	DOCK6	HP:0005280	Depressed nasal bridge
57572	DOCK6	HP:0000486	Strabismus
57572	DOCK6	HP:0001792	Small nail
57572	DOCK6	HP:0000414	Bulbous nose
57572	DOCK6	HP:0000411	Protruding ear
57572	DOCK6	HP:0000518	Cataract
57572	DOCK6	HP:0000519	Developmental cataract
57572	DOCK6	HP:0000505	Visual impairment
57572	DOCK6	HP:0001804	Hypoplastic fingernail
57572	DOCK6	HP:0001817	Absent fingernail
57572	DOCK6	HP:0000568	Microphthalmia
57572	DOCK6	HP:0001883	Talipes
57572	DOCK6	HP:0001882	Leukopenia
57572	DOCK6	HP:0001873	Thrombocytopenia
57582	KCNT1	HP:0002445	Tetraplegia
57582	KCNT1	HP:0001290	Generalized hypotonia
57582	KCNT1	HP:0025237	Confusional arousal
57582	KCNT1	HP:0025236	Somnambulism
57582	KCNT1	HP:0025235	Non-rapid eye movement parasomnia
57582	KCNT1	HP:0001256	Intellectual disability, mild
57582	KCNT1	HP:0001252	Hypotonia
57582	KCNT1	HP:0001249	Intellectual disability
57582	KCNT1	HP:0001257	Spasticity
57582	KCNT1	HP:0007359	Focal-onset seizure
57582	KCNT1	HP:0002529	Neuronal loss in central nervous system
57582	KCNT1	HP:0012075	Personality disorder
57582	KCNT1	HP:0000020	Urinary incontinence
57582	KCNT1	HP:0001345	Psychotic mentation
57582	KCNT1	HP:0001347	Hyperreflexia
57582	KCNT1	HP:0000006	Autosomal dominant inheritance
57582	KCNT1	HP:0100543	Cognitive impairment
57582	KCNT1	HP:0002069	Bilateral tonic-clonic seizure
57582	KCNT1	HP:0002079	Hypoplasia of the corpus callosum
57582	KCNT1	HP:0002120	Cerebral cortical atrophy
57582	KCNT1	HP:0002133	Status epilepticus
57582	KCNT1	HP:0002188	Delayed CNS myelination
57582	KCNT1	HP:0002169	Clonus
57582	KCNT1	HP:0002171	Gliosis
57582	KCNT1	HP:0002268	Paroxysmal dystonia
57582	KCNT1	HP:0003593	Infantile onset
57582	KCNT1	HP:0200134	Epileptic encephalopathy
57582	KCNT1	HP:0007018	Attention deficit hyperactivity disorder
57582	KCNT1	HP:0002376	Developmental regression
57582	KCNT1	HP:0003676	Progressive
57582	KCNT1	HP:0010818	Generalized tonic seizure
57582	KCNT1	HP:0003623	Neonatal onset
57582	KCNT1	HP:0003621	Juvenile onset
57582	KCNT1	HP:0031951	Nocturnal seizures
57582	KCNT1	HP:0004305	Involuntary movements
57582	KCNT1	HP:0012736	Profound global developmental delay
57582	KCNT1	HP:0000739	Anxiety
57582	KCNT1	HP:0000733	Abnormal repetitive mannerisms
57582	KCNT1	HP:0000716	Depression
57582	KCNT1	HP:0000718	Aggressive behavior
57582	KCNT1	HP:0000709	Psychosis
57582	KCNT1	HP:0000708	Atypical behavior
57582	KCNT1	HP:0011463	Childhood onset
57582	KCNT1	HP:0000252	Microcephaly
57582	KCNT1	HP:0002883	Hyperventilation
57582	KCNT1	HP:0031535	Increased theta frequency activity in EEG
57582	KCNT1	HP:0011193	EEG with focal spikes
57582	KCNT1	HP:0011182	Interictal epileptiform activity
57582	KCNT1	HP:0011174	Focal hyperkinetic seizure
57582	KCNT1	HP:0011154	Focal autonomic seizure
57582	KCNT1	HP:0011153	Focal motor seizure
57582	KCNT1	HP:0031589	Suicidal ideation
57589	RIC1	HP:0008551	Microtia
57589	RIC1	HP:0001288	Gait disturbance
57589	RIC1	HP:0001249	Intellectual disability
57589	RIC1	HP:0001263	Global developmental delay
57589	RIC1	HP:0000023	Inguinal hernia
57589	RIC1	HP:0000007	Autosomal recessive inheritance
57589	RIC1	HP:0000175	Cleft palate
57589	RIC1	HP:0410030	Cleft lip
57589	RIC1	HP:0002099	Asthma
57589	RIC1	HP:0007018	Attention deficit hyperactivity disorder
57589	RIC1	HP:0002360	Sleep disturbance
57589	RIC1	HP:0000646	Amblyopia
57589	RIC1	HP:0000684	Delayed eruption of teeth
57589	RIC1	HP:0000692	Tooth malposition
57589	RIC1	HP:0040196	Mild microcephaly
57589	RIC1	HP:0000286	Epicanthus
57589	RIC1	HP:0000276	Long face
57589	RIC1	HP:0011094	Increased overbite
57589	RIC1	HP:0012385	Camptodactyly
57589	RIC1	HP:0000343	Long philtrum
57589	RIC1	HP:0000486	Strabismus
57589	RIC1	HP:0000463	Anteverted nares
57589	RIC1	HP:0000519	Developmental cataract
57591	MRTFA	HP:0100806	Sepsis
57591	MRTFA	HP:0001287	Meningitis
57591	MRTFA	HP:0000007	Autosomal recessive inheritance
57591	MRTFA	HP:0410017	Otitis externa
57591	MRTFA	HP:0200039	Pustule
57591	MRTFA	HP:0001581	Recurrent skin infections
57591	MRTFA	HP:0030253	Defective T cell proliferation
57592	ZNF687	HP:0000006	Autosomal dominant inheritance
57592	ZNF687	HP:0002653	Bone pain
57592	ZNF687	HP:0000121	Nephrocalcinosis
57592	ZNF687	HP:0002757	Recurrent fractures
57592	ZNF687	HP:0002758	Osteoarthritis
57592	ZNF687	HP:0003581	Adult onset
57592	ZNF687	HP:0003155	Elevated circulating alkaline phosphatase concentration
57592	ZNF687	HP:0001677	Coronary artery atherosclerosis
57592	ZNF687	HP:0001712	Left ventricular hypertrophy
57599	WDR48	HP:0001256	Intellectual disability, mild
57599	WDR48	HP:0001258	Spastic paraplegia
57599	WDR48	HP:0002509	Limb hypertonia
57599	WDR48	HP:0002064	Spastic gait
57599	WDR48	HP:0002061	Lower limb spasticity
57599	WDR48	HP:0002166	Impaired vibration sensation in the lower limbs
57599	WDR48	HP:0007002	Motor axonal neuropathy
57599	WDR48	HP:0002355	Difficulty walking
57599	WDR48	HP:0000639	Nystagmus
57609	DIP2B	HP:0001250	Seizure
57609	DIP2B	HP:0001249	Intellectual disability
57609	DIP2B	HP:0001263	Global developmental delay
57609	DIP2B	HP:0000006	Autosomal dominant inheritance
57609	DIP2B	HP:0002783	Recurrent lower respiratory tract infections
57609	DIP2B	HP:0003593	Infantile onset
57609	DIP2B	HP:0001019	Erythroderma
57609	DIP2B	HP:0000962	Hyperkeratosis
57623	ZFAT	HP:0100646	Thyroiditis
57647	DHX37	HP:0008633	Agonadism
57647	DHX37	HP:0001250	Seizure
57647	DHX37	HP:0001263	Global developmental delay
57647	DHX37	HP:0008726	Hypoplasia of the vagina
57647	DHX37	HP:0008730	Female external genitalia in individual with 46,XY karyotype
57647	DHX37	HP:0008734	Decreased testicular size
57647	DHX37	HP:0008736	Hypoplasia of penis
57647	DHX37	HP:0008715	Testicular dysgenesis
57647	DHX37	HP:0008723	Gonadal dysgenesis with female appearance, male
57647	DHX37	HP:0008665	Clitoral hypertrophy
57647	DHX37	HP:0000062	Ambiguous genitalia
57647	DHX37	HP:0000058	Abnormal labia morphology
57647	DHX37	HP:0000044	Hypogonadotropic hypogonadism
57647	DHX37	HP:0000045	Abnormality of the scrotum
57647	DHX37	HP:0000037	Male pseudohermaphroditism
57647	DHX37	HP:0000054	Micropenis
57647	DHX37	HP:0000047	Hypospadias
57647	DHX37	HP:0000022	Abnormal male internal genitalia morphology
57647	DHX37	HP:0000030	Testicular gonadoblastoma
57647	DHX37	HP:0001357	Plagiocephaly
57647	DHX37	HP:0000028	Cryptorchidism
57647	DHX37	HP:0000027	Azoospermia
57647	DHX37	HP:0000008	Abnormal morphology of female internal genitalia
57647	DHX37	HP:0000007	Autosomal recessive inheritance
57647	DHX37	HP:0002667	Nephroblastoma
57647	DHX37	HP:0000006	Autosomal dominant inheritance
57647	DHX37	HP:0002650	Scoliosis
57647	DHX37	HP:0001321	Cerebellar hypoplasia
57647	DHX37	HP:0031103	Decreased cirrculating antimullerian hormone circulation
57647	DHX37	HP:0000142	Abnormal vagina morphology
57647	DHX37	HP:0000144	Decreased fertility
57647	DHX37	HP:0000150	Gonadoblastoma
57647	DHX37	HP:0000151	Aplasia of the uterus
57647	DHX37	HP:0000147	Polycystic ovaries
57647	DHX37	HP:0000149	Ovarian gonadoblastoma
57647	DHX37	HP:0000133	Gonadal dysgenesis
57647	DHX37	HP:0000100	Nephrotic syndrome
57647	DHX37	HP:0002750	Delayed skeletal maturation
57647	DHX37	HP:0002714	Downturned corners of mouth
57647	DHX37	HP:0011800	Midface retrusion
57647	DHX37	HP:0008193	Primary gonadal insufficiency
57647	DHX37	HP:0008197	Absence of pubertal development
57647	DHX37	HP:0008187	Absence of secondary sex characteristics
57647	DHX37	HP:0010464	Streak ovary
57647	DHX37	HP:0010469	Absent testis
57647	DHX37	HP:0010468	Aplasia/Hypoplasia of the testes
57647	DHX37	HP:0002126	Polymicrogyria
57647	DHX37	HP:0002188	Delayed CNS myelination
57647	DHX37	HP:0008232	Elevated circulating follicle stimulating hormone level
57647	DHX37	HP:0008214	Decreased serum estradiol
57647	DHX37	HP:0002215	Sparse axillary hair
57647	DHX37	HP:0002225	Sparse pubic hair
57647	DHX37	HP:0100779	Urogenital sinus anomaly
57647	DHX37	HP:0011969	Elevated circulating luteinizing hormone level
57647	DHX37	HP:0009804	Tooth agenesis
57647	DHX37	HP:0000639	Nystagmus
57647	DHX37	HP:0000618	Blindness
57647	DHX37	HP:0000602	Ophthalmoplegia
57647	DHX37	HP:0030680	Abnormality of cardiovascular system morphology
57647	DHX37	HP:0000771	Gynecomastia
57647	DHX37	HP:0000786	Primary amenorrhea
57647	DHX37	HP:0012870	Vanishing testis
57647	DHX37	HP:0000868	Decreased fertility in females
57647	DHX37	HP:0000837	Increased circulating gonadotropin level
57647	DHX37	HP:0000846	Adrenal insufficiency
57647	DHX37	HP:0000815	Hypergonadotropic hypogonadism
57647	DHX37	HP:0000812	Abnormal internal genitalia
57647	DHX37	HP:0000823	Delayed puberty
57647	DHX37	HP:0004558	Cervical platyspondyly
57647	DHX37	HP:0003251	Male infertility
57647	DHX37	HP:0000939	Osteoporosis
57647	DHX37	HP:0040171	Decreased serum testosterone concentration
57647	DHX37	HP:0000271	Abnormality of the face
57647	DHX37	HP:0012244	Abnormal sex determination
57647	DHX37	HP:0001572	Macrodontia
57647	DHX37	HP:0000252	Microcephaly
57647	DHX37	HP:0030048	Colpocephaly
57647	DHX37	HP:0000316	Hypertelorism
57647	DHX37	HP:0000322	Short philtrum
57647	DHX37	HP:0000324	Facial asymmetry
57647	DHX37	HP:0000307	Pointed chin
57647	DHX37	HP:0000486	Strabismus
57647	DHX37	HP:0012469	Infantile spasms
57647	DHX37	HP:0001792	Small nail
57647	DHX37	HP:0000463	Anteverted nares
57647	DHX37	HP:0000475	Broad neck
57647	DHX37	HP:0000411	Protruding ear
57647	DHX37	HP:0000508	Ptosis
57654	UVSSA	HP:0000007	Autosomal recessive inheritance
57654	UVSSA	HP:0001480	Freckling
57654	UVSSA	HP:0003593	Infantile onset
57654	UVSSA	HP:0001009	Telangiectasia
57654	UVSSA	HP:0003224	Increased cellular sensitivity to UV light
57654	UVSSA	HP:0000992	Cutaneous photosensitivity
57654	UVSSA	HP:0000958	Dry skin
57670	KIAA1549	HP:0025158	Hyperautofluorescent retinal lesion
57670	KIAA1549	HP:0001249	Intellectual disability
57670	KIAA1549	HP:0008736	Hypoplasia of penis
57670	KIAA1549	HP:0001347	Hyperreflexia
57670	KIAA1549	HP:0000035	Abnormal testis morphology
57670	KIAA1549	HP:0000007	Autosomal recessive inheritance
57670	KIAA1549	HP:0000135	Hypogonadism
57670	KIAA1549	HP:0007675	Progressive night blindness
57670	KIAA1549	HP:0005978	Type II diabetes mellitus
57670	KIAA1549	HP:0030505	Nummular pigmentation of the fundus
57670	KIAA1549	HP:0000639	Nystagmus
57670	KIAA1549	HP:0000648	Optic atrophy
57670	KIAA1549	HP:0000618	Blindness
57670	KIAA1549	HP:0000613	Photophobia
57670	KIAA1549	HP:0000602	Ophthalmoplegia
57670	KIAA1549	HP:0000662	Nyctalopia
57670	KIAA1549	HP:0100019	Cortical cataract
57670	KIAA1549	HP:0011505	Cystoid macular edema
57670	KIAA1549	HP:0000842	Hyperinsulinemia
57670	KIAA1549	HP:0000987	Atypical scarring of skin
57670	KIAA1549	HP:0008046	Abnormal retinal vascular morphology
57670	KIAA1549	HP:0007722	Retinal pigment epithelial atrophy
57670	KIAA1549	HP:0007703	Abnormality of retinal pigmentation
57670	KIAA1549	HP:0007737	Bone spicule pigmentation of the retina
57670	KIAA1549	HP:0001513	Obesity
57670	KIAA1549	HP:0007843	Attenuation of retinal blood vessels
57670	KIAA1549	HP:0000407	Sensorineural hearing impairment
57670	KIAA1549	HP:0000405	Conductive hearing impairment
57670	KIAA1549	HP:0000463	Anteverted nares
57670	KIAA1549	HP:0000431	Wide nasal bridge
57670	KIAA1549	HP:0000518	Cataract
57670	KIAA1549	HP:0000512	Abnormal electroretinogram
57670	KIAA1549	HP:0000529	Progressive visual loss
57670	KIAA1549	HP:0000505	Visual impairment
57670	KIAA1549	HP:0000501	Glaucoma
57670	KIAA1549	HP:0000563	Keratoconus
57670	KIAA1549	HP:0000543	Optic disc pallor
57674	RNF213	HP:0001250	Seizure
57674	RNF213	HP:0001249	Intellectual disability
57674	RNF213	HP:0000007	Autosomal recessive inheritance
57674	RNF213	HP:0000006	Autosomal dominant inheritance
57674	RNF213	HP:0002119	Ventriculomegaly
57674	RNF213	HP:0011834	Moyamoya phenomenon
57674	RNF213	HP:0001009	Telangiectasia
57674	RNF213	HP:0002326	Transient ischemic attack
57674	RNF213	HP:0100659	Abnormal cerebral vascular morphology
57679	ALS2	HP:0002483	Bulbar signs
57679	ALS2	HP:0001152	Saccadic smooth pursuit
57679	ALS2	HP:0002492	Morphological abnormality of the corticospinal tract
57679	ALS2	HP:0002491	Spasticity of facial muscles
57679	ALS2	HP:0002464	Spastic dysarthria
57679	ALS2	HP:0002460	Distal muscle weakness
57679	ALS2	HP:0002445	Tetraplegia
57679	ALS2	HP:0007325	Generalized dystonia
57679	ALS2	HP:0007256	Abnormal pyramidal sign
57679	ALS2	HP:0002425	Anarthria
57679	ALS2	HP:0003722	Neck flexor weakness
57679	ALS2	HP:0003701	Proximal muscle weakness
57679	ALS2	HP:0001276	Hypertonia
57679	ALS2	HP:0001270	Motor delay
57679	ALS2	HP:0002599	Head titubation
57679	ALS2	HP:0001285	Spastic tetraparesis
57679	ALS2	HP:0001251	Ataxia
57679	ALS2	HP:0001264	Spastic diplegia
57679	ALS2	HP:0001260	Dysarthria
57679	ALS2	HP:0001263	Global developmental delay
57679	ALS2	HP:0001258	Spastic paraplegia
57679	ALS2	HP:0001257	Spasticity
57679	ALS2	HP:0007354	Amyotrophic lateral sclerosis
57679	ALS2	HP:0002540	Inability to walk
57679	ALS2	HP:0002544	Retrocollis
57679	ALS2	HP:0002530	Axial dystonia
57679	ALS2	HP:0002510	Spastic tetraplegia
57679	ALS2	HP:0002505	Loss of ambulation
57679	ALS2	HP:0002501	Spasticity of pharyngeal muscles
57679	ALS2	HP:0012048	Oromandibular dystonia
57679	ALS2	HP:0000020	Urinary incontinence
57679	ALS2	HP:0000014	Abnormality of the bladder
57679	ALS2	HP:0001348	Brisk reflexes
57679	ALS2	HP:0001347	Hyperreflexia
57679	ALS2	HP:0001332	Dystonia
57679	ALS2	HP:0001324	Muscle weakness
57679	ALS2	HP:0000007	Autosomal recessive inheritance
57679	ALS2	HP:0002650	Scoliosis
57679	ALS2	HP:0001317	Abnormal cerebellum morphology
57679	ALS2	HP:0001300	Parkinsonism
57679	ALS2	HP:0000183	Difficulty in tongue movements
57679	ALS2	HP:0008944	Distal lower limb amyotrophy
57679	ALS2	HP:0002015	Dysphagia
57679	ALS2	HP:0100543	Cognitive impairment
57679	ALS2	HP:0002064	Spastic gait
57679	ALS2	HP:0002061	Lower limb spasticity
57679	ALS2	HP:0002072	Chorea
57679	ALS2	HP:0003474	Somatic sensory dysfunction
57679	ALS2	HP:0002141	Gait imbalance
57679	ALS2	HP:0003487	Babinski sign
57679	ALS2	HP:0002120	Cerebral cortical atrophy
57679	ALS2	HP:0002127	Abnormal upper motor neuron morphology
57679	ALS2	HP:0003429	CNS hypomyelination
57679	ALS2	HP:0003444	EMG: chronic denervation signs
57679	ALS2	HP:0002193	Pseudobulbar behavioral symptoms
57679	ALS2	HP:0002169	Clonus
57679	ALS2	HP:0002167	Abnormality of speech or vocalization
57679	ALS2	HP:0002179	Opisthotonus
57679	ALS2	HP:0003593	Infantile onset
57679	ALS2	HP:0007024	Pseudobulbar paralysis
57679	ALS2	HP:0033383	Decreased compound muscle action potential amplitude
57679	ALS2	HP:0002366	Abnormal lower motor neuron morphology
57679	ALS2	HP:0003693	Distal amyotrophy
57679	ALS2	HP:0002371	Loss of speech
57679	ALS2	HP:0003676	Progressive
57679	ALS2	HP:0002355	Difficulty walking
57679	ALS2	HP:0003677	Slowly progressive
57679	ALS2	HP:0002307	Drooling
57679	ALS2	HP:0000639	Nystagmus
57679	ALS2	HP:0000605	Supranuclear gaze palsy
57679	ALS2	HP:0004322	Short stature
57679	ALS2	HP:0006986	Upper limb spasticity
57679	ALS2	HP:0004326	Cachexia
57679	ALS2	HP:0031960	Arm dystonia
57679	ALS2	HP:0031936	Delayed ability to walk
57679	ALS2	HP:0000763	Sensory neuropathy
57679	ALS2	HP:0000708	Atypical behavior
57679	ALS2	HP:0011471	Gastrostomy tube feeding in infancy
57679	ALS2	HP:0011463	Childhood onset
57679	ALS2	HP:0009130	Hand muscle atrophy
57679	ALS2	HP:0003121	Limb joint contracture
57679	ALS2	HP:0005750	Lower-limb joint contracture
57679	ALS2	HP:0100360	Upper-limb joint contracture
57679	ALS2	HP:0003202	Skeletal muscle atrophy
57679	ALS2	HP:0000980	Pallor
57679	ALS2	HP:0034353	Appendicular spasticity
57679	ALS2	HP:0100295	Muscle fiber atrophy
57679	ALS2	HP:0000271	Abnormality of the face
57679	ALS2	HP:0000252	Microcephaly
57679	ALS2	HP:0030051	Tip-toe gait
57679	ALS2	HP:0005216	Impaired mastication
57679	ALS2	HP:0000478	Abnormality of the eye
57679	ALS2	HP:0000496	Abnormality of eye movement
57679	ALS2	HP:0001771	Achilles tendon contracture
57679	ALS2	HP:0001761	Pes cavus
57679	ALS2	HP:0000514	Slow saccadic eye movements
57680	CHD8	HP:0001270	Motor delay
57680	CHD8	HP:0001250	Seizure
57680	CHD8	HP:0001252	Hypotonia
57680	CHD8	HP:0001249	Intellectual disability
57680	CHD8	HP:0001263	Global developmental delay
57680	CHD8	HP:0000098	Tall stature
57680	CHD8	HP:0025352	Typically de novo
57680	CHD8	HP:0000006	Autosomal dominant inheritance
57680	CHD8	HP:0000194	Open mouth
57680	CHD8	HP:0002019	Constipation
57680	CHD8	HP:0010529	Echolalia
57680	CHD8	HP:0011856	Pica
57680	CHD8	HP:0003593	Infantile onset
57680	CHD8	HP:0002360	Sleep disturbance
57680	CHD8	HP:0002312	Clumsiness
57680	CHD8	HP:0031874	Late chronotype
57680	CHD8	HP:4000073	Pronoun reversal
57680	CHD8	HP:0100023	Recurrent hand flapping
57680	CHD8	HP:0000739	Anxiety
57680	CHD8	HP:0000750	Delayed speech and language development
57680	CHD8	HP:0000717	Autism
57680	CHD8	HP:0000256	Macrocephaly
57680	CHD8	HP:0025502	Overweight
57680	CHD8	HP:0000358	Posteriorly rotated ears
57680	CHD8	HP:0000343	Long philtrum
57680	CHD8	HP:0000336	Prominent supraorbital ridges
57680	CHD8	HP:0000316	Hypertelorism
57680	CHD8	HP:0000307	Pointed chin
57680	CHD8	HP:0000494	Downslanted palpebral fissures
57680	CHD8	HP:0001763	Pes planus
57680	CHD8	HP:0000445	Wide nose
57680	CHD8	HP:0000431	Wide nasal bridge
57680	CHD8	HP:0000508	Ptosis
57688	ZSWIM6	HP:0001159	Syndactyly
57688	ZSWIM6	HP:0002435	Meningocele
57688	ZSWIM6	HP:0009928	Thick nasal alae
57688	ZSWIM6	HP:0001276	Hypertonia
57688	ZSWIM6	HP:0025247	Dermoid cyst
57688	ZSWIM6	HP:0001274	Agenesis of corpus callosum
57688	ZSWIM6	HP:0001270	Motor delay
57688	ZSWIM6	HP:0001250	Seizure
57688	ZSWIM6	HP:0001252	Hypotonia
57688	ZSWIM6	HP:0001251	Ataxia
57688	ZSWIM6	HP:0001249	Intellectual disability
57688	ZSWIM6	HP:0001265	Hyporeflexia
57688	ZSWIM6	HP:0001263	Global developmental delay
57688	ZSWIM6	HP:0032388	Periventricular nodular heterotopia
57688	ZSWIM6	HP:0002553	Highly arched eyebrow
57688	ZSWIM6	HP:0012032	Lipoma
57688	ZSWIM6	HP:0002697	Parietal foramina
57688	ZSWIM6	HP:0002690	Large sella turcica
57688	ZSWIM6	HP:0000028	Cryptorchidism
57688	ZSWIM6	HP:0001344	Absent speech
57688	ZSWIM6	HP:0000006	Autosomal dominant inheritance
57688	ZSWIM6	HP:0032466	Aplasia of the olfactory bulb
57688	ZSWIM6	HP:0012172	Stereotypical body rocking
57688	ZSWIM6	HP:0000194	Open mouth
57688	ZSWIM6	HP:0000161	Median cleft lip
57688	ZSWIM6	HP:0000175	Cleft palate
57688	ZSWIM6	HP:0000154	Wide mouth
57688	ZSWIM6	HP:0008936	Axial hypotonia
57688	ZSWIM6	HP:0006288	Advanced eruption of teeth
57688	ZSWIM6	HP:0002781	Upper airway obstruction
57688	ZSWIM6	HP:0002714	Downturned corners of mouth
57688	ZSWIM6	HP:0002020	Gastroesophageal reflux
57688	ZSWIM6	HP:0002019	Constipation
57688	ZSWIM6	HP:0040326	Hypoplasia of the olfactory bulb
57688	ZSWIM6	HP:0011803	Bifid nose
57688	ZSWIM6	HP:0002084	Encephalocele
57688	ZSWIM6	HP:0002079	Hypoplasia of the corpus callosum
57688	ZSWIM6	HP:0002056	Abnormality of the glabella
57688	ZSWIM6	HP:0010442	Polydactyly
57688	ZSWIM6	HP:0002120	Cerebral cortical atrophy
57688	ZSWIM6	HP:0002119	Ventriculomegaly
57688	ZSWIM6	HP:0002136	Broad-based gait
57688	ZSWIM6	HP:0002191	Progressive spasticity
57688	ZSWIM6	HP:0002190	Choroid plexus cyst
57688	ZSWIM6	HP:0010559	Vertical clivus
57688	ZSWIM6	HP:0011856	Pica
57688	ZSWIM6	HP:0003593	Infantile onset
57688	ZSWIM6	HP:0003577	Congenital onset
57688	ZSWIM6	HP:0100703	Tongue thrusting
57688	ZSWIM6	HP:0002282	Gray matter heterotopia
57688	ZSWIM6	HP:0011968	Feeding difficulties
57688	ZSWIM6	HP:0010627	Anterior pituitary hypoplasia
57688	ZSWIM6	HP:0008388	Abnormal toenail morphology
57688	ZSWIM6	HP:0002389	Cavum septum pellucidum
57688	ZSWIM6	HP:0002317	Unsteady gait
57688	ZSWIM6	HP:0010806	U-Shaped upper lip vermilion
57688	ZSWIM6	HP:0100629	Midline facial cleft
57688	ZSWIM6	HP:0010761	Broad columella
57688	ZSWIM6	HP:0006866	Midline central nervous system lipomas
57688	ZSWIM6	HP:0009099	Median cleft palate
57688	ZSWIM6	HP:0000609	Optic nerve hypoplasia
57688	ZSWIM6	HP:0034014	Tubulonodular pericallosal lipoma
57688	ZSWIM6	HP:0000687	Widely spaced teeth
57688	ZSWIM6	HP:0006951	Retrocerebellar cyst
57688	ZSWIM6	HP:0003065	Patellar hypoplasia
57688	ZSWIM6	HP:0031936	Delayed ability to walk
57688	ZSWIM6	HP:0000752	Hyperactivity
57688	ZSWIM6	HP:0100033	Tics
57688	ZSWIM6	HP:0000729	Autistic behavior
57688	ZSWIM6	HP:0005772	Aplasia/Hypoplasia of the tibia
57688	ZSWIM6	HP:0005736	Short tibia
57688	ZSWIM6	HP:0003196	Short nose
57688	ZSWIM6	HP:0040075	Hypopituitarism
57688	ZSWIM6	HP:0040082	Happy demeanor
57688	ZSWIM6	HP:0100258	Preaxial polydactyly
57688	ZSWIM6	HP:0000280	Coarse facial features
57688	ZSWIM6	HP:0000256	Macrocephaly
57688	ZSWIM6	HP:0000239	Large fontanelles
57688	ZSWIM6	HP:0000253	Progressive microcephaly
57688	ZSWIM6	HP:0000248	Brachycephaly
57688	ZSWIM6	HP:0000232	Everted lower lip vermilion
57688	ZSWIM6	HP:0000204	Cleft upper lip
57688	ZSWIM6	HP:0001508	Failure to thrive
57688	ZSWIM6	HP:0000336	Prominent supraorbital ridges
57688	ZSWIM6	HP:0000316	Hypertelorism
57688	ZSWIM6	HP:0007968	Remnants of the hyaloid vascular system
57688	ZSWIM6	HP:0005280	Depressed nasal bridge
57688	ZSWIM6	HP:0000486	Strabismus
57688	ZSWIM6	HP:0000494	Downslanted palpebral fissures
57688	ZSWIM6	HP:0000455	Broad nasal tip
57688	ZSWIM6	HP:0000456	Bifid nasal tip
57688	ZSWIM6	HP:0001762	Talipes equinovarus
57688	ZSWIM6	HP:0000431	Wide nasal bridge
57688	ZSWIM6	HP:0004122	Midline defect of the nose
57688	ZSWIM6	HP:0005462	Calcification of falx cerebri
57688	ZSWIM6	HP:0001841	Preaxial foot polydactyly
57688	ZSWIM6	HP:0000506	Telecanthus
57688	ZSWIM6	HP:0000508	Ptosis
57688	ZSWIM6	HP:0000501	Glaucoma
57688	ZSWIM6	HP:0001805	Onychogryposis
57688	ZSWIM6	HP:0011220	Prominent forehead
57688	ZSWIM6	HP:0000574	Thick eyebrow
57688	ZSWIM6	HP:0000565	Esotropia
57688	ZSWIM6	HP:0012520	Dilation of Virchow-Robin spaces
57688	ZSWIM6	HP:0000545	Myopia
57697	FANCM	HP:0001172	Abnormal thumb morphology
57697	FANCM	HP:0001199	Triphalangeal thumb
57697	FANCM	HP:0008572	External ear malformation
57697	FANCM	HP:0002414	Spina bifida
57697	FANCM	HP:0001249	Intellectual disability
57697	FANCM	HP:0001263	Global developmental delay
57697	FANCM	HP:0002575	Tracheoesophageal fistula
57697	FANCM	HP:0006101	Finger syndactyly
57697	FANCM	HP:0007400	Irregular hyperpigmentation
57697	FANCM	HP:0008734	Decreased testicular size
57697	FANCM	HP:0100867	Duodenal stenosis
57697	FANCM	HP:0008678	Renal hypoplasia/aplasia
57697	FANCM	HP:0008669	Abnormal spermatogenesis
57697	FANCM	HP:0000083	Renal insufficiency
57697	FANCM	HP:0001392	Abnormality of the liver
57697	FANCM	HP:0000079	Abnormality of the urinary system
57697	FANCM	HP:0000072	Hydroureter
57697	FANCM	HP:0012041	Decreased fertility in males
57697	FANCM	HP:0000047	Hypospadias
57697	FANCM	HP:0001347	Hyperreflexia
57697	FANCM	HP:0000035	Abnormal testis morphology
57697	FANCM	HP:0000028	Cryptorchidism
57697	FANCM	HP:0000027	Azoospermia
57697	FANCM	HP:0007565	Multiple cafe-au-lait spots
57697	FANCM	HP:0002664	Neoplasm
57697	FANCM	HP:0000010	Recurrent urinary tract infections
57697	FANCM	HP:0000007	Autosomal recessive inheritance
57697	FANCM	HP:0002650	Scoliosis
57697	FANCM	HP:0031103	Decreased cirrculating antimullerian hormone circulation
57697	FANCM	HP:0000175	Cleft palate
57697	FANCM	HP:0000135	Hypogonadism
57697	FANCM	HP:0006265	Aplasia/Hypoplasia of fingers
57697	FANCM	HP:0000118	Phenotypic abnormality
57697	FANCM	HP:0000130	Abnormality of the uterus
57697	FANCM	HP:0002023	Anal atresia
57697	FANCM	HP:0002007	Frontal bossing
57697	FANCM	HP:0100542	Abnormal localization of kidney
57697	FANCM	HP:0100587	Abnormal preputium morphology
57697	FANCM	HP:0010469	Absent testis
57697	FANCM	HP:0002119	Ventriculomegaly
57697	FANCM	HP:0008232	Elevated circulating follicle stimulating hormone level
57697	FANCM	HP:0002245	Meckel diverticulum
57697	FANCM	HP:0002251	Aganglionic megacolon
57697	FANCM	HP:0100760	Clubbing of toes
57697	FANCM	HP:0011969	Elevated circulating luteinizing hormone level
57697	FANCM	HP:0011961	Non-obstructive azoospermia
57697	FANCM	HP:0011962	Obstructive azoospermia
57697	FANCM	HP:0001053	Hypopigmented skin patches
57697	FANCM	HP:0001000	Abnormality of skin pigmentation
57697	FANCM	HP:0003621	Juvenile onset
57697	FANCM	HP:0004209	Clinodactyly of the 5th finger
57697	FANCM	HP:0005522	Pyridoxine-responsive sideroblastic anemia
57697	FANCM	HP:0006824	Cranial nerve paralysis
57697	FANCM	HP:0000639	Nystagmus
57697	FANCM	HP:0001903	Anemia
57697	FANCM	HP:0012639	Abnormal nervous system morphology
57697	FANCM	HP:0004322	Short stature
57697	FANCM	HP:0003022	Hypoplasia of the ulna
57697	FANCM	HP:0004349	Reduced bone mineral density
57697	FANCM	HP:0012745	Short palpebral fissure
57697	FANCM	HP:0100026	Arteriovenous malformation
57697	FANCM	HP:0011462	Young adult onset
57697	FANCM	HP:0000876	Oligomenorrhea
57697	FANCM	HP:0000858	Irregular menstruation
57697	FANCM	HP:0000869	Secondary amenorrhea
57697	FANCM	HP:0000864	Abnormality of the hypothalamus-pituitary axis
57697	FANCM	HP:0000837	Increased circulating gonadotropin level
57697	FANCM	HP:0000813	Bicornuate uterus
57697	FANCM	HP:0010293	Aplasia/Hypoplasia of the uvula
57697	FANCM	HP:0040071	Abnormal morphology of ulna
57697	FANCM	HP:0003220	Abnormality of chromosome stability
57697	FANCM	HP:0003251	Male infertility
57697	FANCM	HP:0040171	Decreased serum testosterone concentration
57697	FANCM	HP:0008053	Aplasia/Hypoplasia of the iris
57697	FANCM	HP:0000286	Epicanthus
57697	FANCM	HP:0000268	Dolichocephaly
57697	FANCM	HP:0002817	Abnormality of the upper limb
57697	FANCM	HP:0002827	Hip dislocation
57697	FANCM	HP:0002823	Abnormality of femur morphology
57697	FANCM	HP:0000238	Hydrocephalus
57697	FANCM	HP:0000252	Microcephaly
57697	FANCM	HP:0012210	Abnormal renal morphology
57697	FANCM	HP:0000218	High palate
57697	FANCM	HP:0001562	Oligohydramnios
57697	FANCM	HP:0001537	Umbilical hernia
57697	FANCM	HP:0002863	Myelodysplasia
57697	FANCM	HP:0001511	Intrauterine growth retardation
57697	FANCM	HP:0001510	Growth delay
57697	FANCM	HP:0006501	Aplasia/Hypoplasia of the radius
57697	FANCM	HP:0007874	Almond-shaped palpebral fissure
57697	FANCM	HP:0000365	Hearing impairment
57697	FANCM	HP:0000364	Hearing abnormality
57697	FANCM	HP:0001671	Abnormal cardiac septum morphology
57697	FANCM	HP:0000340	Sloping forehead
57697	FANCM	HP:0001679	Abnormal aortic morphology
57697	FANCM	HP:0000347	Micrognathia
57697	FANCM	HP:0000316	Hypertelorism
57697	FANCM	HP:0001646	Abnormal aortic valve morphology
57697	FANCM	HP:0001643	Patent ductus arteriosus
57697	FANCM	HP:0000324	Facial asymmetry
57697	FANCM	HP:0001639	Hypertrophic cardiomyopathy
57697	FANCM	HP:0001636	Tetralogy of Fallot
57697	FANCM	HP:0001631	Atrial septal defect
57697	FANCM	HP:0005344	Abnormal carotid artery morphology
57697	FANCM	HP:0000483	Astigmatism
57697	FANCM	HP:0000486	Strabismus
57697	FANCM	HP:0000478	Abnormality of the eye
57697	FANCM	HP:0000492	Abnormal eyelid morphology
57697	FANCM	HP:0001770	Toe syndactyly
57697	FANCM	HP:0001763	Pes planus
57697	FANCM	HP:0000453	Choanal atresia
57697	FANCM	HP:0001760	Abnormal foot morphology
57697	FANCM	HP:0000518	Cataract
57697	FANCM	HP:0000520	Proptosis
57697	FANCM	HP:0001824	Weight loss
57697	FANCM	HP:0000508	Ptosis
57697	FANCM	HP:0000505	Visual impairment
57697	FANCM	HP:0000504	Abnormality of vision
57697	FANCM	HP:0000582	Upslanted palpebral fissure
57697	FANCM	HP:0000568	Microphthalmia
57697	FANCM	HP:0001871	Abnormality of blood and blood-forming tissues
57697	FANCM	HP:0001882	Leukopenia
57697	FANCM	HP:0001873	Thrombocytopenia
57704	GBA2	HP:0002495	Impaired vibratory sensation
57704	GBA2	HP:0002464	Spastic dysarthria
57704	GBA2	HP:0007256	Abnormal pyramidal sign
57704	GBA2	HP:0002406	Limb dysmetria
57704	GBA2	HP:0001272	Cerebellar atrophy
57704	GBA2	HP:0001268	Mental deterioration
57704	GBA2	HP:0001256	Intellectual disability, mild
57704	GBA2	HP:0001251	Ataxia
57704	GBA2	HP:0001249	Intellectual disability
57704	GBA2	HP:0001260	Dysarthria
57704	GBA2	HP:0001258	Spastic paraplegia
57704	GBA2	HP:0001257	Spasticity
57704	GBA2	HP:0008734	Decreased testicular size
57704	GBA2	HP:0007371	Corpus callosum atrophy
57704	GBA2	HP:0007340	Lower limb muscle weakness
57704	GBA2	HP:0002500	Abnormal cerebral white matter morphology
57704	GBA2	HP:0000020	Urinary incontinence
57704	GBA2	HP:0001348	Brisk reflexes
57704	GBA2	HP:0001347	Hyperreflexia
57704	GBA2	HP:0000007	Autosomal recessive inheritance
57704	GBA2	HP:0002650	Scoliosis
57704	GBA2	HP:0002015	Dysphagia
57704	GBA2	HP:0100543	Cognitive impairment
57704	GBA2	HP:0002066	Gait ataxia
57704	GBA2	HP:0002064	Spastic gait
57704	GBA2	HP:0002061	Lower limb spasticity
57704	GBA2	HP:0002078	Truncal ataxia
57704	GBA2	HP:0002079	Hypoplasia of the corpus callosum
57704	GBA2	HP:0002073	Progressive cerebellar ataxia
57704	GBA2	HP:0002059	Cerebral atrophy
57704	GBA2	HP:0100513	Low levels of vitamin E
57704	GBA2	HP:0003477	Peripheral axonal neuropathy
57704	GBA2	HP:0003487	Babinski sign
57704	GBA2	HP:0002120	Cerebral cortical atrophy
57704	GBA2	HP:0002136	Broad-based gait
57704	GBA2	HP:0002166	Impaired vibration sensation in the lower limbs
57704	GBA2	HP:0020036	Upper limb dysmetria
57704	GBA2	HP:0003693	Distal amyotrophy
57704	GBA2	HP:0003690	Limb muscle weakness
57704	GBA2	HP:0002378	Hand tremor
57704	GBA2	HP:0003676	Progressive
57704	GBA2	HP:0002355	Difficulty walking
57704	GBA2	HP:0002346	Head tremor
57704	GBA2	HP:0010831	Impaired proprioception
57704	GBA2	HP:0007141	Sensorimotor neuropathy
57704	GBA2	HP:0002310	Orofacial dyskinesia
57704	GBA2	HP:0003621	Juvenile onset
57704	GBA2	HP:0004905	Low levels of vitamin A
57704	GBA2	HP:0000639	Nystagmus
57704	GBA2	HP:0006986	Upper limb spasticity
57704	GBA2	HP:0006938	Impaired vibration sensation at ankles
57704	GBA2	HP:0000726	Dementia
57704	GBA2	HP:0011463	Childhood onset
57704	GBA2	HP:0011449	Knee clonus
57704	GBA2	HP:0011448	Ankle clonus
57704	GBA2	HP:0000789	Infertility
57704	GBA2	HP:0012864	Abnormal sperm morphology
57704	GBA2	HP:0012865	Abnormal sperm head morphology
57704	GBA2	HP:0100261	Abnormal tendon morphology
57704	GBA2	HP:0008003	Jerky ocular pursuit movements
57704	GBA2	HP:0002808	Kyphosis
57704	GBA2	HP:0012207	Reduced sperm motility
57704	GBA2	HP:0000365	Hearing impairment
57704	GBA2	HP:0000407	Sensorineural hearing impairment
57704	GBA2	HP:0001761	Pes cavus
57704	GBA2	HP:0000518	Cataract
57704	GBA2	HP:0000570	Abnormal saccadic eye movements
57709	SLC7A14	HP:0001105	Retinal atrophy
57709	SLC7A14	HP:0001123	Visual field defect
57709	SLC7A14	HP:0001249	Intellectual disability
57709	SLC7A14	HP:0008736	Hypoplasia of penis
57709	SLC7A14	HP:0001347	Hyperreflexia
57709	SLC7A14	HP:0000035	Abnormal testis morphology
57709	SLC7A14	HP:0000007	Autosomal recessive inheritance
57709	SLC7A14	HP:0000135	Hypogonadism
57709	SLC7A14	HP:0007675	Progressive night blindness
57709	SLC7A14	HP:0007663	Reduced visual acuity
57709	SLC7A14	HP:0005978	Type II diabetes mellitus
57709	SLC7A14	HP:0000639	Nystagmus
57709	SLC7A14	HP:0000648	Optic atrophy
57709	SLC7A14	HP:0000618	Blindness
57709	SLC7A14	HP:0000613	Photophobia
57709	SLC7A14	HP:0000602	Ophthalmoplegia
57709	SLC7A14	HP:0000662	Nyctalopia
57709	SLC7A14	HP:0011463	Childhood onset
57709	SLC7A14	HP:0000842	Hyperinsulinemia
57709	SLC7A14	HP:0000987	Atypical scarring of skin
57709	SLC7A14	HP:0008046	Abnormal retinal vascular morphology
57709	SLC7A14	HP:0007703	Abnormality of retinal pigmentation
57709	SLC7A14	HP:0007737	Bone spicule pigmentation of the retina
57709	SLC7A14	HP:0001513	Obesity
57709	SLC7A14	HP:0000407	Sensorineural hearing impairment
57709	SLC7A14	HP:0000405	Conductive hearing impairment
57709	SLC7A14	HP:0000463	Anteverted nares
57709	SLC7A14	HP:0000431	Wide nasal bridge
57709	SLC7A14	HP:0000518	Cataract
57709	SLC7A14	HP:0000510	Rod-cone dystrophy
57709	SLC7A14	HP:0000512	Abnormal electroretinogram
57709	SLC7A14	HP:0000505	Visual impairment
57709	SLC7A14	HP:0000501	Glaucoma
57709	SLC7A14	HP:0000563	Keratoconus
57716	PRX	HP:0001178	Ulnar claw
57716	PRX	HP:0001171	Split hand
57716	PRX	HP:0002460	Distal muscle weakness
57716	PRX	HP:0010871	Sensory ataxia
57716	PRX	HP:0003701	Proximal muscle weakness
57716	PRX	HP:0001270	Motor delay
57716	PRX	HP:0001284	Areflexia
57716	PRX	HP:0001252	Hypotonia
57716	PRX	HP:0001265	Hyporeflexia
57716	PRX	HP:0002505	Loss of ambulation
57716	PRX	HP:0000007	Autosomal recessive inheritance
57716	PRX	HP:0000006	Autosomal dominant inheritance
57716	PRX	HP:0001308	Tongue fasciculations
57716	PRX	HP:0002650	Scoliosis
57716	PRX	HP:0008954	Intrinsic hand muscle atrophy
57716	PRX	HP:0002751	Kyphoscoliosis
57716	PRX	HP:0002066	Gait ataxia
57716	PRX	HP:0003376	Steppage gait
57716	PRX	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
57716	PRX	HP:0003383	Onion bulb formation
57716	PRX	HP:0003382	Hypertrophic nerve changes
57716	PRX	HP:0003380	Decreased number of peripheral myelinated nerve fibers
57716	PRX	HP:0003481	Segmental peripheral demyelination/remyelination
57716	PRX	HP:0003448	Decreased sensory nerve conduction velocity
57716	PRX	HP:0002136	Broad-based gait
57716	PRX	HP:0003431	Decreased motor nerve conduction velocity
57716	PRX	HP:0003400	Basal lamina onion bulb formation
57716	PRX	HP:0003593	Infantile onset
57716	PRX	HP:0002280	Enlarged cisterna magna
57716	PRX	HP:0003693	Distal amyotrophy
57716	PRX	HP:0003690	Limb muscle weakness
57716	PRX	HP:0002355	Difficulty walking
57716	PRX	HP:0003677	Slowly progressive
57716	PRX	HP:0006886	Impaired distal vibration sensation
57716	PRX	HP:0000639	Nystagmus
57716	PRX	HP:0009053	Distal lower limb muscle weakness
57716	PRX	HP:0009027	Foot dorsiflexor weakness
57716	PRX	HP:0011463	Childhood onset
57716	PRX	HP:0003202	Skeletal muscle atrophy
57716	PRX	HP:0011096	Peripheral demyelination
57716	PRX	HP:0002936	Distal sensory impairment
57716	PRX	HP:0001604	Vocal cord paresis
57716	PRX	HP:0002922	Increased CSF protein concentration
57716	PRX	HP:0030175	Myelin tomacula
57716	PRX	HP:0001763	Pes planus
57716	PRX	HP:0001765	Hammertoe
57716	PRX	HP:0001761	Pes cavus
57724	EPG5	HP:0001107	Ocular albinism
57724	EPG5	HP:0001104	Macular hypoplasia
57724	EPG5	HP:0001103	Abnormal macular morphology
57724	EPG5	HP:0001274	Agenesis of corpus callosum
57724	EPG5	HP:0001270	Motor delay
57724	EPG5	HP:0001250	Seizure
57724	EPG5	HP:0001252	Hypotonia
57724	EPG5	HP:0001249	Intellectual disability
57724	EPG5	HP:0001263	Global developmental delay
57724	EPG5	HP:0007401	Macular atrophy
57724	EPG5	HP:0002533	Abnormal posturing
57724	EPG5	HP:0001387	Joint stiffness
57724	EPG5	HP:0008897	Postnatal growth retardation
57724	EPG5	HP:0008872	Feeding difficulties in infancy
57724	EPG5	HP:0000007	Autosomal recessive inheritance
57724	EPG5	HP:0001320	Cerebellar vermis hypoplasia
57724	EPG5	HP:0001321	Cerebellar hypoplasia
57724	EPG5	HP:0000161	Median cleft lip
57724	EPG5	HP:0000175	Cleft palate
57724	EPG5	HP:0012110	Hypoplasia of the pons
57724	EPG5	HP:0002719	Recurrent infections
57724	EPG5	HP:0002718	Recurrent bacterial infections
57724	EPG5	HP:0002728	Chronic mucocutaneous candidiasis
57724	EPG5	HP:0002721	Immunodeficiency
57724	EPG5	HP:0002015	Dysphagia
57724	EPG5	HP:0005999	Ureteral atresia
57724	EPG5	HP:0002120	Cerebral cortical atrophy
57724	EPG5	HP:0003593	Infantile onset
57724	EPG5	HP:0003577	Congenital onset
57724	EPG5	HP:0002205	Recurrent respiratory infections
57724	EPG5	HP:0002282	Gray matter heterotopia
57724	EPG5	HP:0008348	Decreased circulating IgG2 level
57724	EPG5	HP:0011968	Feeding difficulties
57724	EPG5	HP:0010636	Schizencephaly
57724	EPG5	HP:0002360	Sleep disturbance
57724	EPG5	HP:0001010	Hypopigmentation of the skin
57724	EPG5	HP:0001022	Albinism
57724	EPG5	HP:0002353	EEG abnormality
57724	EPG5	HP:0010803	Everted upper lip vermilion
57724	EPG5	HP:0009099	Median cleft palate
57724	EPG5	HP:0005599	Hypopigmentation of hair
57724	EPG5	HP:0000639	Nystagmus
57724	EPG5	HP:0000648	Optic atrophy
57724	EPG5	HP:0001947	Renal tubular acidosis
57724	EPG5	HP:0001941	Acidosis
57724	EPG5	HP:0000601	Hypotelorism
57724	EPG5	HP:0004322	Short stature
57724	EPG5	HP:0004315	Decreased circulating IgG level
57724	EPG5	HP:0000777	Abnormality of the thymus
57724	EPG5	HP:0004429	Recurrent viral infections
57724	EPG5	HP:0003198	Myopathy
57724	EPG5	HP:0003236	Elevated circulating creatine kinase concentration
57724	EPG5	HP:0003244	Penile hypospadias
57724	EPG5	HP:0007703	Abnormality of retinal pigmentation
57724	EPG5	HP:0000286	Epicanthus
57724	EPG5	HP:0000252	Microcephaly
57724	EPG5	HP:0000218	High palate
57724	EPG5	HP:0001522	Death in infancy
57724	EPG5	HP:0000204	Cleft upper lip
57724	EPG5	HP:0001508	Failure to thrive
57724	EPG5	HP:0002841	Recurrent fungal infections
57724	EPG5	HP:0007894	Hypopigmentation of the fundus
57724	EPG5	HP:0000369	Low-set ears
57724	EPG5	HP:0000341	Narrow forehead
57724	EPG5	HP:0000343	Long philtrum
57724	EPG5	HP:0000347	Micrognathia
57724	EPG5	HP:0000316	Hypertelorism
57724	EPG5	HP:0001644	Dilated cardiomyopathy
57724	EPG5	HP:0000325	Triangular face
57724	EPG5	HP:0001635	Congestive heart failure
57724	EPG5	HP:0001638	Cardiomyopathy
57724	EPG5	HP:0002965	Cutaneous anergy
57724	EPG5	HP:0001631	Atrial septal defect
57724	EPG5	HP:0005374	Cellular immunodeficiency
57724	EPG5	HP:0000407	Sensorineural hearing impairment
57724	EPG5	HP:0001712	Left ventricular hypertrophy
57724	EPG5	HP:0005280	Depressed nasal bridge
57724	EPG5	HP:0012471	Thick vermilion border
57724	EPG5	HP:0000437	Depressed nasal tip
57724	EPG5	HP:0000445	Wide nose
57724	EPG5	HP:0005407	Decreased proportion of CD4-positive helper T cells
57724	EPG5	HP:0005419	Decreased T cell activation
57724	EPG5	HP:0005403	T lymphocytopenia
57724	EPG5	HP:0000518	Cataract
57724	EPG5	HP:0000519	Developmental cataract
57724	EPG5	HP:0000508	Ptosis
57724	EPG5	HP:0011220	Prominent forehead
57724	EPG5	HP:0001888	Lymphopenia
57724	EPG5	HP:0001882	Leukopenia
57724	EPG5	HP:0001875	Neutropenia
57728	WDR19	HP:0001156	Brachydactyly
57728	WDR19	HP:0001162	Postaxial hand polydactyly
57728	WDR19	HP:0003774	Stage 5 chronic kidney disease
57728	WDR19	HP:0009882	Short distal phalanx of finger
57728	WDR19	HP:0033525	Absent sperm axoneme central pair complex
57728	WDR19	HP:0001251	Ataxia
57728	WDR19	HP:0001263	Global developmental delay
57728	WDR19	HP:0001231	Abnormal fingernail morphology
57728	WDR19	HP:0002558	Supernumerary nipple
57728	WDR19	HP:0006101	Finger syndactyly
57728	WDR19	HP:0007401	Macular atrophy
57728	WDR19	HP:0100866	Short iliac bones
57728	WDR19	HP:0033601	Glomerular subepithelial immune-complex deposits
57728	WDR19	HP:0000089	Renal hypoplasia
57728	WDR19	HP:0000083	Renal insufficiency
57728	WDR19	HP:0000099	Glomerulonephritis
57728	WDR19	HP:0000096	Glomerular sclerosis
57728	WDR19	HP:0000090	Nephronophthisis
57728	WDR19	HP:0000093	Proteinuria
57728	WDR19	HP:0001392	Abnormality of the liver
57728	WDR19	HP:0001385	Hip dysplasia
57728	WDR19	HP:0001382	Joint hypermobility
57728	WDR19	HP:0000023	Inguinal hernia
57728	WDR19	HP:0001363	Craniosynostosis
57728	WDR19	HP:0008872	Feeding difficulties in infancy
57728	WDR19	HP:0000007	Autosomal recessive inheritance
57728	WDR19	HP:0002652	Skeletal dysplasia
57728	WDR19	HP:0001319	Neonatal hypotonia
57728	WDR19	HP:0002644	Abnormal pelvic girdle bone morphology
57728	WDR19	HP:0002617	Vascular dilatation
57728	WDR19	HP:0002612	Congenital hepatic fibrosis
57728	WDR19	HP:0008905	Rhizomelia
57728	WDR19	HP:0000164	Abnormality of the dentition
57728	WDR19	HP:0007663	Reduced visual acuity
57728	WDR19	HP:0033867	Multilamellation of medullary peritubular capillary basement membranes
57728	WDR19	HP:0000112	Nephropathy
57728	WDR19	HP:0032558	Absent sperm flagella
57728	WDR19	HP:0032559	Short sperm flagella
57728	WDR19	HP:0032560	Coiled sperm flagella
57728	WDR19	HP:0001407	Hepatic cysts
57728	WDR19	HP:0002007	Frontal bossing
57728	WDR19	HP:0002093	Respiratory insufficiency
57728	WDR19	HP:0002091	Restrictive ventilatory defect
57728	WDR19	HP:0010442	Polydactyly
57728	WDR19	HP:0033149	Intrahepatic bile duct dilatation
57728	WDR19	HP:0010454	Acetabular spurs
57728	WDR19	HP:0004743	Chronic tubulointerstitial nephritis
57728	WDR19	HP:0004737	Global glomerulosclerosis
57728	WDR19	HP:0010554	Cutaneous finger syndactyly
57728	WDR19	HP:0008209	Premature ovarian insufficiency
57728	WDR19	HP:0010579	Cone-shaped epiphysis
57728	WDR19	HP:0003577	Congenital onset
57728	WDR19	HP:0002240	Hepatomegaly
57728	WDR19	HP:0033393	Irregularly shaped sperm tail
57728	WDR19	HP:0008388	Abnormal toenail morphology
57728	WDR19	HP:0009836	Broad distal phalanx of finger
57728	WDR19	HP:0008499	High hypermetropia
57728	WDR19	HP:0003621	Juvenile onset
57728	WDR19	HP:0005528	Bone marrow hypocellularity
57728	WDR19	HP:0004209	Clinodactyly of the 5th finger
57728	WDR19	HP:0012622	Chronic kidney disease
57728	WDR19	HP:0000639	Nystagmus
57728	WDR19	HP:0000601	Hypotelorism
57728	WDR19	HP:0034011	Reduced progressive sperm motility
57728	WDR19	HP:0000682	Abnormal dental enamel morphology
57728	WDR19	HP:0000679	Taurodontia
57728	WDR19	HP:0000691	Microdontia
57728	WDR19	HP:0000662	Nyctalopia
57728	WDR19	HP:0000668	Hypodontia
57728	WDR19	HP:0004322	Short stature
57728	WDR19	HP:0005692	Joint hyperflexibility
57728	WDR19	HP:0003016	Metaphyseal widening
57728	WDR19	HP:0004348	Abnormality of bone mineral density
57728	WDR19	HP:0000772	Abnormal rib morphology
57728	WDR19	HP:0000767	Pectus excavatum
57728	WDR19	HP:0000766	Abnormal sternum morphology
57728	WDR19	HP:0010174	Broad phalanx of the toes
57728	WDR19	HP:0011463	Childhood onset
57728	WDR19	HP:0011462	Young adult onset
57728	WDR19	HP:0011461	Fetal onset
57728	WDR19	HP:0000774	Narrow chest
57728	WDR19	HP:0004442	Sagittal craniosynostosis
57728	WDR19	HP:0000889	Abnormal clavicle morphology
57728	WDR19	HP:0000822	Hypertension
57728	WDR19	HP:0003251	Male infertility
57728	WDR19	HP:0003259	Elevated circulating creatinine concentration
57728	WDR19	HP:0000980	Pallor
57728	WDR19	HP:0010306	Short thorax
57728	WDR19	HP:0000973	Cutis laxa
57728	WDR19	HP:0000939	Osteoporosis
57728	WDR19	HP:0033036	Decreased nasal nitric oxide
57728	WDR19	HP:0000944	Abnormal metaphysis morphology
57728	WDR19	HP:0000940	Abnormal diaphysis morphology
57728	WDR19	HP:0008081	Pes valgus
57728	WDR19	HP:0008070	Sparse hair
57728	WDR19	HP:0007703	Abnormality of retinal pigmentation
57728	WDR19	HP:0000286	Epicanthus
57728	WDR19	HP:0000293	Full cheeks
57728	WDR19	HP:0000268	Dolichocephaly
57728	WDR19	HP:0000269	Prominent occiput
57728	WDR19	HP:0006371	Broad long bone diaphyses
57728	WDR19	HP:0000219	Thin upper lip vermilion
57728	WDR19	HP:0000233	Thin vermilion border
57728	WDR19	HP:0000232	Everted lower lip vermilion
57728	WDR19	HP:0001510	Growth delay
57728	WDR19	HP:0007843	Attenuation of retinal blood vessels
57728	WDR19	HP:0006532	Recurrent pneumonia
57728	WDR19	HP:0002983	Micromelia
57728	WDR19	HP:0000319	Smooth philtrum
57728	WDR19	HP:0032948	Renal interstitial fibrosis
57728	WDR19	HP:0006644	Thoracic dysplasia
57728	WDR19	HP:0001737	Pancreatic cysts
57728	WDR19	HP:0000463	Anteverted nares
57728	WDR19	HP:0001770	Toe syndactyly
57728	WDR19	HP:0001773	Short foot
57728	WDR19	HP:0000411	Protruding ear
57728	WDR19	HP:0000431	Wide nasal bridge
57728	WDR19	HP:0006703	Aplasia/Hypoplasia of the lungs
57728	WDR19	HP:0000518	Cataract
57728	WDR19	HP:0000510	Rod-cone dystrophy
57728	WDR19	HP:0000529	Progressive visual loss
57728	WDR19	HP:0000505	Visual impairment
57728	WDR19	HP:0001830	Postaxial foot polydactyly
57728	WDR19	HP:0001805	Onychogryposis
57728	WDR19	HP:0012595	Mild proteinuria
57728	WDR19	HP:0000556	Retinal dystrophy
57728	WDR19	HP:0000540	Hypermetropia
57728	WDR19	HP:0000545	Myopia
57731	SPTBN4	HP:0010864	Intellectual disability, severe
57731	SPTBN4	HP:0002421	Poor head control
57731	SPTBN4	HP:0003700	Generalized amyotrophy
57731	SPTBN4	HP:0001290	Generalized hypotonia
57731	SPTBN4	HP:0001284	Areflexia
57731	SPTBN4	HP:0001250	Seizure
57731	SPTBN4	HP:0001266	Choreoathetosis
57731	SPTBN4	HP:0001263	Global developmental delay
57731	SPTBN4	HP:0002500	Abnormal cerebral white matter morphology
57731	SPTBN4	HP:0001344	Absent speech
57731	SPTBN4	HP:0000007	Autosomal recessive inheritance
57731	SPTBN4	HP:0002650	Scoliosis
57731	SPTBN4	HP:0001319	Neonatal hypotonia
57731	SPTBN4	HP:0002020	Gastroesophageal reflux
57731	SPTBN4	HP:0002033	Poor suck
57731	SPTBN4	HP:0002015	Dysphagia
57731	SPTBN4	HP:0011807	Type 1 muscle fiber atrophy
57731	SPTBN4	HP:0002058	Myopathic facies
57731	SPTBN4	HP:0003477	Peripheral axonal neuropathy
57731	SPTBN4	HP:0002194	Delayed gross motor development
57731	SPTBN4	HP:0003577	Congenital onset
57731	SPTBN4	HP:0100704	Cerebral visual impairment
57731	SPTBN4	HP:0003554	Type 2 muscle fiber atrophy
57731	SPTBN4	HP:0004891	Recurrent infections due to aspiration
57731	SPTBN4	HP:0011968	Feeding difficulties
57731	SPTBN4	HP:0010628	Facial palsy
57731	SPTBN4	HP:0003693	Distal amyotrophy
57731	SPTBN4	HP:0002353	EEG abnormality
57731	SPTBN4	HP:0007108	Demyelinating peripheral neuropathy
57731	SPTBN4	HP:0003623	Neonatal onset
57731	SPTBN4	HP:0006829	Severe muscular hypotonia
57731	SPTBN4	HP:0000666	Horizontal nystagmus
57731	SPTBN4	HP:0011471	Gastrostomy tube feeding in infancy
57731	SPTBN4	HP:0004463	Absent brainstem auditory responses
57731	SPTBN4	HP:0040081	Abnormal circulating creatine kinase concentration
57731	SPTBN4	HP:0006466	Ankle flexion contracture
57731	SPTBN4	HP:0000218	High palate
57731	SPTBN4	HP:0000407	Sensorineural hearing impairment
57798	GATAD1	HP:0000007	Autosomal recessive inheritance
57798	GATAD1	HP:0100578	Lipoatrophy
57798	GATAD1	HP:0003457	EMG abnormality
57798	GATAD1	HP:0003596	Middle age onset
57798	GATAD1	HP:0012664	Reduced left ventricular ejection fraction
57798	GATAD1	HP:0003198	Myopathy
57798	GATAD1	HP:0003236	Elevated circulating creatine kinase concentration
57798	GATAD1	HP:0000982	Palmoplantar keratoderma
57798	GATAD1	HP:0005110	Atrial fibrillation
57798	GATAD1	HP:0001644	Dilated cardiomyopathy
57798	GATAD1	HP:0001635	Congestive heart failure
57798	GATAD1	HP:0000407	Sensorineural hearing impairment
57798	GATAD1	HP:0001874	Abnormality of neutrophils
57817	HAMP	HP:0001254	Lethargy
57817	HAMP	HP:0007440	Generalized hyperpigmentation
57817	HAMP	HP:0001395	Hepatic fibrosis
57817	HAMP	HP:0001394	Cirrhosis
57817	HAMP	HP:0012093	Abnormality of endocrine pancreas physiology
57817	HAMP	HP:0001324	Muscle weakness
57817	HAMP	HP:0000007	Autosomal recessive inheritance
57817	HAMP	HP:0002612	Congenital hepatic fibrosis
57817	HAMP	HP:0000135	Hypogonadism
57817	HAMP	HP:0003452	Increased serum iron
57817	HAMP	HP:0002240	Hepatomegaly
57817	HAMP	HP:0001903	Anemia
57817	HAMP	HP:0000802	Impotence
57817	HAMP	HP:0003040	Arthropathy
57817	HAMP	HP:0011462	Young adult onset
57817	HAMP	HP:0000869	Secondary amenorrhea
57817	HAMP	HP:0000819	Diabetes mellitus
57817	HAMP	HP:0003281	Increased circulating ferritin concentration
57817	HAMP	HP:0000953	Hyperpigmentation of the skin
57817	HAMP	HP:0000939	Osteoporosis
57817	HAMP	HP:0011031	Abnormality of iron homeostasis
57817	HAMP	HP:0002910	Elevated hepatic transaminase
57817	HAMP	HP:0001644	Dilated cardiomyopathy
57817	HAMP	HP:0001635	Congestive heart failure
57817	HAMP	HP:0001638	Cardiomyopathy
57817	HAMP	HP:0012463	Elevated transferrin saturation
57817	HAMP	HP:0001744	Splenomegaly
57822	GRHL3	HP:0010863	Receptive language delay
57822	GRHL3	HP:0000006	Autosomal dominant inheritance
57822	GRHL3	HP:0000185	Cleft soft palate
57822	GRHL3	HP:0000193	Bifid uvula
57822	GRHL3	HP:0000196	Lower lip pit
57822	GRHL3	HP:0000175	Cleft palate
57822	GRHL3	HP:0410030	Cleft lip
57822	GRHL3	HP:0002033	Poor suck
57822	GRHL3	HP:0011819	Submucous cleft soft palate
57822	GRHL3	HP:0003577	Congenital onset
57822	GRHL3	HP:0200136	Oral-pharyngeal dysphagia
57822	GRHL3	HP:0008376	Nasal, dysarthic speech
57822	GRHL3	HP:0011951	Aspiration pneumonia
57822	GRHL3	HP:0009088	Speech articulation difficulties
57822	GRHL3	HP:0000674	Anodontia
57822	GRHL3	HP:0000689	Dental malocclusion
57822	GRHL3	HP:0000668	Hypodontia
57822	GRHL3	HP:0011469	Nasal regurgitation
57822	GRHL3	HP:0010286	Abnormal salivary gland morphology
57822	GRHL3	HP:0100267	Lip pit
57822	GRHL3	HP:0000220	Velopharyngeal insufficiency
57822	GRHL3	HP:0000204	Cleft upper lip
57822	GRHL3	HP:0001611	Hypernasal speech
57822	GRHL3	HP:0000327	Hypoplasia of the maxilla
57822	GRHL3	HP:0000403	Recurrent otitis media
57822	GRHL3	HP:0000405	Conductive hearing impairment
57822	GRHL3	HP:0011219	Short face
57863	CADM3	HP:0001284	Areflexia
57863	CADM3	HP:0001239	Wrist flexion contracture
57863	CADM3	HP:0001348	Brisk reflexes
57863	CADM3	HP:0031189	Wrist drop
57863	CADM3	HP:0000006	Autosomal dominant inheritance
57863	CADM3	HP:0002650	Scoliosis
57863	CADM3	HP:0008959	Distal upper limb muscle weakness
57863	CADM3	HP:0008944	Distal lower limb amyotrophy
57863	CADM3	HP:0003394	Muscle spasm
57863	CADM3	HP:0003438	Absent Achilles reflex
57863	CADM3	HP:0003596	Middle age onset
57863	CADM3	HP:0003593	Infantile onset
57863	CADM3	HP:0033383	Decreased compound muscle action potential amplitude
57863	CADM3	HP:0003693	Distal amyotrophy
57863	CADM3	HP:0009830	Peripheral neuropathy
57863	CADM3	HP:0033466	Weak grip
57863	CADM3	HP:0007149	Distal upper limb amyotrophy
57863	CADM3	HP:0006886	Impaired distal vibration sensation
57863	CADM3	HP:0009027	Foot dorsiflexor weakness
57863	CADM3	HP:0009005	Weakness of the intrinsic hand muscles
57863	CADM3	HP:0031936	Delayed ability to walk
57863	CADM3	HP:0011463	Childhood onset
57863	CADM3	HP:0002936	Distal sensory impairment
57863	CADM3	HP:0001643	Patent ductus arteriosus
57863	CADM3	HP:0030319	Weakness of facial musculature
57863	CADM3	HP:0001763	Pes planus
58472	SQOR	HP:0001259	Coma
58472	SQOR	HP:0000007	Autosomal recessive inheritance
58472	SQOR	HP:0002076	Migraine
58472	SQOR	HP:0006846	Acute encephalopathy
58472	SQOR	HP:0012707	Elevated brain lactate level by MRS
58472	SQOR	HP:0003128	Lactic acidosis
58472	SQOR	HP:0003236	Elevated circulating creatine kinase concentration
58472	SQOR	HP:0032792	Tonic seizure
58484	NLRC4	HP:0001287	Meningitis
58484	NLRC4	HP:0002572	Episodic vomiting
58484	NLRC4	HP:0008872	Feeding difficulties in infancy
58484	NLRC4	HP:0000006	Autosomal dominant inheritance
58484	NLRC4	HP:0012178	Reduced natural killer cell activity
58484	NLRC4	HP:0025420	Diffuse alveolar hemorrhage
58484	NLRC4	HP:0003326	Myalgia
58484	NLRC4	HP:0011900	Hypofibrinogenemia
58484	NLRC4	HP:0003593	Infantile onset
58484	NLRC4	HP:0001025	Urticaria
58484	NLRC4	HP:0003623	Neonatal onset
58484	NLRC4	HP:0005521	Disseminated intravascular coagulation
58484	NLRC4	HP:0001945	Fever
58484	NLRC4	HP:0001954	Recurrent fever
58484	NLRC4	HP:0001903	Anemia
58484	NLRC4	HP:0004322	Short stature
58484	NLRC4	HP:0003073	Hypoalbuminemia
58484	NLRC4	HP:0004387	Enterocolitis
58484	NLRC4	HP:0011473	Villous atrophy
58484	NLRC4	HP:0040218	Reduced natural killer cell count
58484	NLRC4	HP:0003281	Increased circulating ferritin concentration
58484	NLRC4	HP:0000988	Skin rash
58484	NLRC4	HP:0002829	Arthralgia
58484	NLRC4	HP:0001508	Failure to thrive
58484	NLRC4	HP:0012378	Fatigue
58484	NLRC4	HP:0005208	Secretory diarrhea
58484	NLRC4	HP:0001744	Splenomegaly
58484	NLRC4	HP:0011227	Elevated circulating C-reactive protein concentration
58484	NLRC4	HP:0001873	Thrombocytopenia
58484	NLRC4	HP:0001876	Pancytopenia
58494	JAM2	HP:0002451	Limb dystonia
58494	JAM2	HP:0007325	Generalized dystonia
58494	JAM2	HP:0001276	Hypertonia
58494	JAM2	HP:0001268	Mental deterioration
58494	JAM2	HP:0001250	Seizure
58494	JAM2	HP:0001260	Dysarthria
58494	JAM2	HP:0007352	Cerebellar calcifications
58494	JAM2	HP:0002514	Cerebral calcification
58494	JAM2	HP:0001392	Abnormality of the liver
58494	JAM2	HP:0001348	Brisk reflexes
58494	JAM2	HP:0000007	Autosomal recessive inheritance
58494	JAM2	HP:0001300	Parkinsonism
58494	JAM2	HP:0002067	Bradykinesia
58494	JAM2	HP:0002063	Rigidity
58494	JAM2	HP:0002070	Limb ataxia
58494	JAM2	HP:0003487	Babinski sign
58494	JAM2	HP:0002119	Ventriculomegaly
58494	JAM2	HP:0002135	Basal ganglia calcification
58494	JAM2	HP:0002269	Abnormality of neuronal migration
58494	JAM2	HP:0002240	Hepatomegaly
58494	JAM2	HP:0025041	Thalamic calcification
58494	JAM2	HP:0002310	Orofacial dyskinesia
58494	JAM2	HP:0000639	Nystagmus
58494	JAM2	HP:0001933	Subcutaneous hemorrhage
58494	JAM2	HP:0000729	Autistic behavior
58494	JAM2	HP:0000252	Microcephaly
58494	JAM2	HP:0001511	Intrauterine growth retardation
58494	JAM2	HP:0000338	Hypomimic face
58494	JAM2	HP:0007957	Corneal opacity
58494	JAM2	HP:0001873	Thrombocytopenia
58495	OVOL2	HP:0009926	Epiphora
58495	OVOL2	HP:0009918	Ectopia pupillae
58495	OVOL2	HP:0025358	Uveal ectropion
58495	OVOL2	HP:0012040	Corneal stromal edema
58495	OVOL2	HP:0031159	Thinning of Descemet membrane
58495	OVOL2	HP:0000006	Autosomal dominant inheritance
58495	OVOL2	HP:0007663	Reduced visual acuity
58495	OVOL2	HP:0200026	Ocular pain
58495	OVOL2	HP:0200065	Chorioretinal degeneration
58495	OVOL2	HP:0001089	Iris atrophy
58495	OVOL2	HP:0032122	Very low visual acuity
58495	OVOL2	HP:0100692	Increased corneal curvature
58495	OVOL2	HP:0000632	Lacrimation abnormality
58495	OVOL2	HP:0000646	Amblyopia
58495	OVOL2	HP:0000613	Photophobia
58495	OVOL2	HP:0000622	Blurred vision
58495	OVOL2	HP:0011488	Abnormal corneal endothelium morphology
58495	OVOL2	HP:0011491	Reduced number of corneal endothelial cells
58495	OVOL2	HP:0011490	Abnormal Descemet membrane morphology
58495	OVOL2	HP:0011483	Anterior synechiae of the anterior chamber
58495	OVOL2	HP:0007957	Corneal opacity
58495	OVOL2	HP:0007915	Polymorphous posterior corneal dystrophy
58495	OVOL2	HP:0007906	Ocular hypertension
58495	OVOL2	HP:0000483	Astigmatism
58495	OVOL2	HP:0000501	Glaucoma
58495	OVOL2	HP:0000585	Band keratopathy
58495	OVOL2	HP:0000565	Esotropia
58497	PRUNE1	HP:0010864	Intellectual disability, severe
58497	PRUNE1	HP:0001272	Cerebellar atrophy
58497	PRUNE1	HP:0001285	Spastic tetraparesis
58497	PRUNE1	HP:0001250	Seizure
58497	PRUNE1	HP:0001252	Hypotonia
58497	PRUNE1	HP:0001263	Global developmental delay
58497	PRUNE1	HP:0002540	Inability to walk
58497	PRUNE1	HP:0002500	Abnormal cerebral white matter morphology
58497	PRUNE1	HP:0001347	Hyperreflexia
58497	PRUNE1	HP:0001357	Plagiocephaly
58497	PRUNE1	HP:0008872	Feeding difficulties in infancy
58497	PRUNE1	HP:0033725	Thin corpus callosum
58497	PRUNE1	HP:0001344	Absent speech
58497	PRUNE1	HP:0000007	Autosomal recessive inheritance
58497	PRUNE1	HP:0001308	Tongue fasciculations
58497	PRUNE1	HP:0002650	Scoliosis
58497	PRUNE1	HP:0000189	Narrow palate
58497	PRUNE1	HP:0002020	Gastroesophageal reflux
58497	PRUNE1	HP:0002093	Respiratory insufficiency
58497	PRUNE1	HP:0002079	Hypoplasia of the corpus callosum
58497	PRUNE1	HP:0002059	Cerebral atrophy
58497	PRUNE1	HP:0002120	Cerebral cortical atrophy
58497	PRUNE1	HP:0002188	Delayed CNS myelination
58497	PRUNE1	HP:0002187	Intellectual disability, profound
58497	PRUNE1	HP:0002169	Clonus
58497	PRUNE1	HP:0003577	Congenital onset
58497	PRUNE1	HP:0100704	Cerebral visual impairment
58497	PRUNE1	HP:0003676	Progressive
58497	PRUNE1	HP:0002353	EEG abnormality
58497	PRUNE1	HP:0002313	Spastic paraparesis
58497	PRUNE1	HP:0000648	Optic atrophy
58497	PRUNE1	HP:0009062	Infantile axial hypotonia
58497	PRUNE1	HP:0012736	Profound global developmental delay
58497	PRUNE1	HP:0003236	Elevated circulating creatine kinase concentration
58497	PRUNE1	HP:0003202	Skeletal muscle atrophy
58497	PRUNE1	HP:0034392	Joint contracture
58497	PRUNE1	HP:0000252	Microcephaly
58497	PRUNE1	HP:0001558	Decreased fetal movement
58497	PRUNE1	HP:0011097	Epileptic spasm
58497	PRUNE1	HP:0000369	Low-set ears
58497	PRUNE1	HP:0000340	Sloping forehead
58497	PRUNE1	HP:0000347	Micrognathia
58497	PRUNE1	HP:0032794	Myoclonic seizure
58497	PRUNE1	HP:0001639	Hypertrophic cardiomyopathy
58497	PRUNE1	HP:0000400	Macrotia
58497	PRUNE1	HP:0000488	Retinopathy
58497	PRUNE1	HP:0012448	Delayed myelination
58497	PRUNE1	HP:0001776	Bilateral talipes equinovarus
58497	PRUNE1	HP:0000411	Protruding ear
58497	PRUNE1	HP:0001762	Talipes equinovarus
58497	PRUNE1	HP:0000518	Cataract
58497	PRUNE1	HP:0000520	Proptosis
58499	ZNF462	HP:0009897	Horizontal crus of helix
58499	ZNF462	HP:0008551	Microtia
58499	ZNF462	HP:0001290	Generalized hypotonia
58499	ZNF462	HP:0001274	Agenesis of corpus callosum
58499	ZNF462	HP:0001256	Intellectual disability, mild
58499	ZNF462	HP:0002553	Highly arched eyebrow
58499	ZNF462	HP:0000006	Autosomal dominant inheritance
58499	ZNF462	HP:0002079	Hypoplasia of the corpus callosum
58499	ZNF462	HP:0002119	Ventriculomegaly
58499	ZNF462	HP:0009623	Proximal placement of thumb
58499	ZNF462	HP:0002263	Exaggerated cupid's bow
58499	ZNF462	HP:0003593	Infantile onset
58499	ZNF462	HP:0011968	Feeding difficulties
58499	ZNF462	HP:0004209	Clinodactyly of the 5th finger
58499	ZNF462	HP:0011342	Mild global developmental delay
58499	ZNF462	HP:0000750	Delayed speech and language development
58499	ZNF462	HP:0000729	Autistic behavior
58499	ZNF462	HP:0003196	Short nose
58499	ZNF462	HP:0004467	Preauricular pit
58499	ZNF462	HP:0000954	Single transverse palmar crease
58499	ZNF462	HP:0000286	Epicanthus
58499	ZNF462	HP:0000289	Broad philtrum
58499	ZNF462	HP:0031348	Dextrotransposition of the great arteries
58499	ZNF462	HP:0030048	Colpocephaly
58499	ZNF462	HP:0000378	Cupped ear
58499	ZNF462	HP:0000396	Overfolded helix
58499	ZNF462	HP:0000365	Hearing impairment
58499	ZNF462	HP:0000369	Low-set ears
58499	ZNF462	HP:0001647	Bicuspid aortic valve
58499	ZNF462	HP:0001629	Ventricular septal defect
58499	ZNF462	HP:0001712	Left ventricular hypertrophy
58499	ZNF462	HP:0000494	Downslanted palpebral fissures
58499	ZNF462	HP:0000463	Anteverted nares
58499	ZNF462	HP:0000411	Protruding ear
58499	ZNF462	HP:0005487	Prominent metopic ridge
58499	ZNF462	HP:0000508	Ptosis
58499	ZNF462	HP:0001804	Hypoplastic fingernail
58508	KMT2C	HP:0001182	Tapered finger
58508	KMT2C	HP:0002463	Language impairment
58508	KMT2C	HP:0009909	Uplifted earlobe
58508	KMT2C	HP:0001290	Generalized hypotonia
58508	KMT2C	HP:0001270	Motor delay
58508	KMT2C	HP:0001250	Seizure
58508	KMT2C	HP:0001252	Hypotonia
58508	KMT2C	HP:0001249	Intellectual disability
58508	KMT2C	HP:0001263	Global developmental delay
58508	KMT2C	HP:0410263	Brain imaging abnormality
58508	KMT2C	HP:0002500	Abnormal cerebral white matter morphology
58508	KMT2C	HP:0000077	Abnormality of the kidney
58508	KMT2C	HP:0025352	Typically de novo
58508	KMT2C	HP:0000076	Vesicoureteral reflux
58508	KMT2C	HP:0000078	Abnormality of the genital system
58508	KMT2C	HP:0000023	Inguinal hernia
58508	KMT2C	HP:0001357	Plagiocephaly
58508	KMT2C	HP:0000006	Autosomal dominant inheritance
58508	KMT2C	HP:0002650	Scoliosis
58508	KMT2C	HP:0001321	Cerebellar hypoplasia
58508	KMT2C	HP:0000179	Thick lower lip vermilion
58508	KMT2C	HP:0000193	Bifid uvula
58508	KMT2C	HP:0000164	Abnormality of the dentition
58508	KMT2C	HP:0002779	Tracheomalacia
58508	KMT2C	HP:0002719	Recurrent infections
58508	KMT2C	HP:0002023	Anal atresia
58508	KMT2C	HP:0002020	Gastroesophageal reflux
58508	KMT2C	HP:0011800	Midface retrusion
58508	KMT2C	HP:0002079	Hypoplasia of the corpus callosum
58508	KMT2C	HP:0002119	Ventriculomegaly
58508	KMT2C	HP:0002194	Delayed gross motor development
58508	KMT2C	HP:0002171	Gliosis
58508	KMT2C	HP:0100716	Self-injurious behavior
58508	KMT2C	HP:0200005	Abnormal shape of the palpebral fissure
58508	KMT2C	HP:0006863	Severe expressive language delay
58508	KMT2C	HP:0011351	Moderate receptive language delay
58508	KMT2C	HP:0000695	Natal tooth
58508	KMT2C	HP:0001999	Abnormal facial shape
58508	KMT2C	HP:0004322	Short stature
58508	KMT2C	HP:0000750	Delayed speech and language development
58508	KMT2C	HP:0000729	Autistic behavior
58508	KMT2C	HP:0000708	Atypical behavior
58508	KMT2C	HP:0000826	Precocious puberty
58508	KMT2C	HP:0000974	Hyperextensible skin
58508	KMT2C	HP:0002808	Kyphosis
58508	KMT2C	HP:0000252	Microcephaly
58508	KMT2C	HP:0000248	Brachycephaly
58508	KMT2C	HP:0001548	Overgrowth
58508	KMT2C	HP:0000232	Everted lower lip vermilion
58508	KMT2C	HP:0001537	Umbilical hernia
58508	KMT2C	HP:0001508	Failure to thrive
58508	KMT2C	HP:0001520	Large for gestational age
58508	KMT2C	HP:0001510	Growth delay
58508	KMT2C	HP:0000365	Hearing impairment
58508	KMT2C	HP:0001627	Abnormal heart morphology
58508	KMT2C	HP:0000519	Developmental cataract
58508	KMT2C	HP:0000574	Thick eyebrow
58508	KMT2C	HP:0000540	Hypermetropia
58513	EPS15L1	HP:0001171	Split hand
58513	EPS15L1	HP:0006101	Finger syndactyly
58513	EPS15L1	HP:0012165	Oligodactyly
58513	EPS15L1	HP:0004050	Absent hand
58513	EPS15L1	HP:0000407	Sensorineural hearing impairment
58513	EPS15L1	HP:0000526	Aniridia
58524	DMRT3	HP:0008726	Hypoplasia of the vagina
58524	DMRT3	HP:0008730	Female external genitalia in individual with 46,XY karyotype
58524	DMRT3	HP:0008734	Decreased testicular size
58524	DMRT3	HP:0008736	Hypoplasia of penis
58524	DMRT3	HP:0008665	Clitoral hypertrophy
58524	DMRT3	HP:0000062	Ambiguous genitalia
58524	DMRT3	HP:0000058	Abnormal labia morphology
58524	DMRT3	HP:0000045	Abnormality of the scrotum
58524	DMRT3	HP:0000054	Micropenis
58524	DMRT3	HP:0000047	Hypospadias
58524	DMRT3	HP:0000030	Testicular gonadoblastoma
58524	DMRT3	HP:0000028	Cryptorchidism
58524	DMRT3	HP:0000027	Azoospermia
58524	DMRT3	HP:0002667	Nephroblastoma
58524	DMRT3	HP:0000142	Abnormal vagina morphology
58524	DMRT3	HP:0000150	Gonadoblastoma
58524	DMRT3	HP:0000149	Ovarian gonadoblastoma
58524	DMRT3	HP:0000133	Gonadal dysgenesis
58524	DMRT3	HP:0000100	Nephrotic syndrome
58524	DMRT3	HP:0002750	Delayed skeletal maturation
58524	DMRT3	HP:0008193	Primary gonadal insufficiency
58524	DMRT3	HP:0008187	Absence of secondary sex characteristics
58524	DMRT3	HP:0010464	Streak ovary
58524	DMRT3	HP:0008232	Elevated circulating follicle stimulating hormone level
58524	DMRT3	HP:0008214	Decreased serum estradiol
58524	DMRT3	HP:0002215	Sparse axillary hair
58524	DMRT3	HP:0002225	Sparse pubic hair
58524	DMRT3	HP:0100779	Urogenital sinus anomaly
58524	DMRT3	HP:0011969	Elevated circulating luteinizing hormone level
58524	DMRT3	HP:0030680	Abnormality of cardiovascular system morphology
58524	DMRT3	HP:0000771	Gynecomastia
58524	DMRT3	HP:0000786	Primary amenorrhea
58524	DMRT3	HP:0012870	Vanishing testis
58524	DMRT3	HP:0000868	Decreased fertility in females
58524	DMRT3	HP:0000837	Increased circulating gonadotropin level
58524	DMRT3	HP:0000846	Adrenal insufficiency
58524	DMRT3	HP:0000815	Hypergonadotropic hypogonadism
58524	DMRT3	HP:0000812	Abnormal internal genitalia
58524	DMRT3	HP:0000823	Delayed puberty
58524	DMRT3	HP:0003251	Male infertility
58524	DMRT3	HP:0000939	Osteoporosis
58524	DMRT3	HP:0040171	Decreased serum testosterone concentration
58524	DMRT3	HP:0012244	Abnormal sex determination
59067	IL21	HP:0000007	Autosomal recessive inheritance
59067	IL21	HP:0002037	Inflammation of the large intestine
59067	IL21	HP:0011839	Abnormal T cell count
59067	IL21	HP:0003593	Infantile onset
59067	IL21	HP:0002205	Recurrent respiratory infections
59067	IL21	HP:0100759	Clubbing of fingers
59067	IL21	HP:0033343	Mucoid diarrhea
59067	IL21	HP:0032154	Aphthous ulcer
59067	IL21	HP:0004315	Decreased circulating IgG level
59067	IL21	HP:0003212	Increased circulating IgE level
59067	IL21	HP:0100280	Crohn's disease
59067	IL21	HP:0001508	Failure to thrive
59067	IL21	HP:0001510	Growth delay
59067	IL21	HP:0012378	Fatigue
59067	IL21	HP:0030388	Decreased proportion of class-switched memory B cells
59335	PRDM12	HP:0002495	Impaired vibratory sensation
59335	PRDM12	HP:0002579	Gastrointestinal dysmotility
59335	PRDM12	HP:0001249	Intellectual disability
59335	PRDM12	HP:0001265	Hyporeflexia
59335	PRDM12	HP:0000007	Autosomal recessive inheritance
59335	PRDM12	HP:0033748	Hypoesthesia
59335	PRDM12	HP:0003593	Infantile onset
59335	PRDM12	HP:0007021	Pain insensitivity
59335	PRDM12	HP:0010831	Impaired proprioception
59335	PRDM12	HP:0010829	Impaired temperature sensation
59335	PRDM12	HP:0000633	Decreased lacrimation
59335	PRDM12	HP:0011463	Childhood onset
59335	PRDM12	HP:0004409	Hyposmia
59335	PRDM12	HP:0012804	Corneal ulceration
59335	PRDM12	HP:0000966	Hypohidrosis
59335	PRDM12	HP:0001581	Recurrent skin infections
59335	PRDM12	HP:0000407	Sensorineural hearing impairment
59335	PRDM12	HP:0000559	Corneal scarring
59336	PRDM13	HP:0001290	Generalized hypotonia
59336	PRDM13	HP:0001276	Hypertonia
59336	PRDM13	HP:0001270	Motor delay
59336	PRDM13	HP:0001250	Seizure
59336	PRDM13	HP:0001252	Hypotonia
59336	PRDM13	HP:0001249	Intellectual disability
59336	PRDM13	HP:0001265	Hyporeflexia
59336	PRDM13	HP:0001263	Global developmental delay
59336	PRDM13	HP:0002510	Spastic tetraplegia
59336	PRDM13	HP:0002509	Limb hypertonia
59336	PRDM13	HP:0000044	Hypogonadotropic hypogonadism
59336	PRDM13	HP:0000054	Micropenis
59336	PRDM13	HP:0001347	Hyperreflexia
59336	PRDM13	HP:0000028	Cryptorchidism
59336	PRDM13	HP:0000007	Autosomal recessive inheritance
59336	PRDM13	HP:0001310	Dysmetria
59336	PRDM13	HP:0001320	Cerebellar vermis hypoplasia
59336	PRDM13	HP:0002650	Scoliosis
59336	PRDM13	HP:0001321	Cerebellar hypoplasia
59336	PRDM13	HP:0008936	Axial hypotonia
59336	PRDM13	HP:0012110	Hypoplasia of the pons
59336	PRDM13	HP:0002020	Gastroesophageal reflux
59336	PRDM13	HP:0002015	Dysphagia
59336	PRDM13	HP:0002093	Respiratory insufficiency
59336	PRDM13	HP:0002066	Gait ataxia
59336	PRDM13	HP:0002075	Dysdiadochokinesis
59336	PRDM13	HP:0002136	Broad-based gait
59336	PRDM13	HP:0002268	Paroxysmal dystonia
59336	PRDM13	HP:0003593	Infantile onset
59336	PRDM13	HP:0003577	Congenital onset
59336	PRDM13	HP:0002365	Hypoplasia of the brainstem
59336	PRDM13	HP:0000639	Nystagmus
59336	PRDM13	HP:0100307	Cerebellar hemisphere hypoplasia
59336	PRDM13	HP:0000823	Delayed puberty
59336	PRDM13	HP:0000286	Epicanthus
59336	PRDM13	HP:0000294	Low anterior hairline
59336	PRDM13	HP:0002808	Kyphosis
59336	PRDM13	HP:0001561	Polyhydramnios
59336	PRDM13	HP:0001511	Intrauterine growth retardation
59336	PRDM13	HP:0001684	Secundum atrial septal defect
59336	PRDM13	HP:0000316	Hypertelorism
59336	PRDM13	HP:0001643	Patent ductus arteriosus
59336	PRDM13	HP:0001629	Ventricular septal defect
59336	PRDM13	HP:0000308	Microretrognathia
59336	PRDM13	HP:0000486	Strabismus
59336	PRDM13	HP:0030344	Decreased circulating luteinizing hormone level
59336	PRDM13	HP:0030341	Decreased circulating follicle stimulating hormone concentration
59336	PRDM13	HP:0000582	Upslanted palpebral fissure
59341	TRPV4	HP:0001156	Brachydactyly
59341	TRPV4	HP:0003795	Short middle phalanx of toe
59341	TRPV4	HP:0002460	Distal muscle weakness
59341	TRPV4	HP:0007311	Short stepped shuffling gait
59341	TRPV4	HP:0007269	Spinal muscular atrophy
59341	TRPV4	HP:0007230	Decreased distal sensory nerve action potential
59341	TRPV4	HP:0009882	Short distal phalanx of finger
59341	TRPV4	HP:0003724	Shoulder girdle muscle atrophy
59341	TRPV4	HP:0100818	Long thorax
59341	TRPV4	HP:0001270	Motor delay
59341	TRPV4	HP:0001288	Gait disturbance
59341	TRPV4	HP:0001284	Areflexia
59341	TRPV4	HP:0001252	Hypotonia
59341	TRPV4	HP:0001249	Intellectual disability
59341	TRPV4	HP:0001248	Short tubular bones of the hand
59341	TRPV4	HP:0001265	Hyporeflexia
59341	TRPV4	HP:0100864	Short femoral neck
59341	TRPV4	HP:0031058	Impairment of activities of daily living
59341	TRPV4	HP:0001216	Delayed ossification of carpal bones
59341	TRPV4	HP:0002515	Waddling gait
59341	TRPV4	HP:0003829	Typified by incomplete penetrance
59341	TRPV4	HP:0008812	Flattened femoral head
59341	TRPV4	HP:0008800	Limited hip movement
59341	TRPV4	HP:0001371	Flexion contracture
59341	TRPV4	HP:0001385	Hip dysplasia
59341	TRPV4	HP:0001387	Joint stiffness
59341	TRPV4	HP:0000020	Urinary incontinence
59341	TRPV4	HP:0006239	Shortening of all middle phalanges of the toes
59341	TRPV4	HP:0008873	Disproportionate short-limb short stature
59341	TRPV4	HP:0008843	Hip osteoarthritis
59341	TRPV4	HP:0008833	Irregular acetabular roof
59341	TRPV4	HP:0003907	Abnormal humeral metaphysis morphology
59341	TRPV4	HP:0003911	Flared humeral metaphysis
59341	TRPV4	HP:0002663	Delayed epiphyseal ossification
59341	TRPV4	HP:0002656	Epiphyseal dysplasia
59341	TRPV4	HP:0002657	Spondylometaphyseal dysplasia
59341	TRPV4	HP:0002655	Spondyloepiphyseal dysplasia
59341	TRPV4	HP:0000012	Urinary urgency
59341	TRPV4	HP:0000006	Autosomal dominant inheritance
59341	TRPV4	HP:0002652	Skeletal dysplasia
59341	TRPV4	HP:0002650	Scoliosis
59341	TRPV4	HP:0008922	Childhood-onset short-trunk short stature
59341	TRPV4	HP:0001498	Carpal bone hypoplasia
59341	TRPV4	HP:0000175	Cleft palate
59341	TRPV4	HP:0008997	Proximal muscle weakness in upper limbs
59341	TRPV4	HP:0008959	Distal upper limb muscle weakness
59341	TRPV4	HP:0008964	Nonprogressive muscular atrophy
59341	TRPV4	HP:0008948	Proximal upper limb amyotrophy
59341	TRPV4	HP:0008956	Proximal lower limb amyotrophy
59341	TRPV4	HP:0008955	Progressive distal muscular atrophy
59341	TRPV4	HP:0008944	Distal lower limb amyotrophy
59341	TRPV4	HP:0002766	Relatively short spine
59341	TRPV4	HP:0002751	Kyphoscoliosis
59341	TRPV4	HP:0002750	Delayed skeletal maturation
59341	TRPV4	HP:0003366	Abnormal femoral neck/head morphology
59341	TRPV4	HP:0003332	Absent primary metaphyseal spongiosa
59341	TRPV4	HP:0003336	Abnormal enchondral ossification
59341	TRPV4	HP:0003312	Abnormal form of the vertebral bodies
59341	TRPV4	HP:0003311	Hypoplasia of the odontoid process
59341	TRPV4	HP:0003307	Hyperlordosis
59341	TRPV4	HP:0002093	Respiratory insufficiency
59341	TRPV4	HP:0100559	Lower limb asymmetry
59341	TRPV4	HP:0003391	Gowers sign
59341	TRPV4	HP:0003375	Narrow greater sciatic notch
59341	TRPV4	HP:0009466	Radial deviation of finger
59341	TRPV4	HP:0011727	Peroneal muscle weakness
59341	TRPV4	HP:0008155	Mucopolysacchariduria
59341	TRPV4	HP:0003477	Peripheral axonal neuropathy
59341	TRPV4	HP:0002136	Broad-based gait
59341	TRPV4	HP:0003411	Proximal femoral metaphyseal irregularity
59341	TRPV4	HP:0003417	Coronal cleft vertebrae
59341	TRPV4	HP:0002176	Spinal cord compression
59341	TRPV4	HP:0100490	Camptodactyly of finger
59341	TRPV4	HP:0010579	Cone-shaped epiphysis
59341	TRPV4	HP:0003593	Infantile onset
59341	TRPV4	HP:0003577	Congenital onset
59341	TRPV4	HP:0003555	Muscle fiber splitting
59341	TRPV4	HP:0004878	Intercostal muscle weakness
59341	TRPV4	HP:0003562	Abnormal metaphyseal vascular invasion
59341	TRPV4	HP:0010628	Facial palsy
59341	TRPV4	HP:0003510	Severe short stature
59341	TRPV4	HP:0003521	Disproportionate short-trunk short stature
59341	TRPV4	HP:0003697	Scapuloperoneal amyotrophy
59341	TRPV4	HP:0003693	Distal amyotrophy
59341	TRPV4	HP:0003691	Scapular winging
59341	TRPV4	HP:0002355	Difficulty walking
59341	TRPV4	HP:0003680	Nonprogressive
59341	TRPV4	HP:0200021	Down-sloping shoulders
59341	TRPV4	HP:0100670	Coarse metaphyseal trabecularization
59341	TRPV4	HP:0200055	Small hand
59341	TRPV4	HP:0007149	Distal upper limb amyotrophy
59341	TRPV4	HP:0010743	Short metatarsal
59341	TRPV4	HP:0008434	Hypoplastic cervical vertebrae
59341	TRPV4	HP:0008422	Vertebral wedging
59341	TRPV4	HP:0003623	Neonatal onset
59341	TRPV4	HP:0003634	Amyoplasia
59341	TRPV4	HP:0003621	Juvenile onset
59341	TRPV4	HP:0007178	Motor polyneuropathy
59341	TRPV4	HP:0004209	Clinodactyly of the 5th finger
59341	TRPV4	HP:0004268	Osteoarthritis of the small joints of the hand
59341	TRPV4	HP:0006897	Abducens palsy
59341	TRPV4	HP:0009060	Scapular muscle atrophy
59341	TRPV4	HP:0009063	Progressive distal muscle weakness
59341	TRPV4	HP:0009053	Distal lower limb muscle weakness
59341	TRPV4	HP:0009049	Peroneal muscle atrophy
59341	TRPV4	HP:0009027	Foot dorsiflexor weakness
59341	TRPV4	HP:0001989	Fetal akinesia sequence
59341	TRPV4	HP:0004322	Short stature
59341	TRPV4	HP:0004326	Cachexia
59341	TRPV4	HP:0003088	Premature osteoarthritis
59341	TRPV4	HP:0003059	Abnormality of the radioulnar joints
59341	TRPV4	HP:0003037	Enlarged joints
59341	TRPV4	HP:0034187	Clavicular pseudarthrosis
59341	TRPV4	HP:0003040	Arthropathy
59341	TRPV4	HP:0003015	Flared metaphysis
59341	TRPV4	HP:0003016	Metaphyseal widening
59341	TRPV4	HP:0003025	Metaphyseal irregularity
59341	TRPV4	HP:0000772	Abnormal rib morphology
59341	TRPV4	HP:0000768	Pectus carinatum
59341	TRPV4	HP:0000763	Sensory neuropathy
59341	TRPV4	HP:0011463	Childhood onset
59341	TRPV4	HP:0011462	Young adult onset
59341	TRPV4	HP:0009130	Hand muscle atrophy
59341	TRPV4	HP:0000774	Narrow chest
59341	TRPV4	HP:0000773	Short ribs
59341	TRPV4	HP:0009113	Diaphragmatic weakness
59341	TRPV4	HP:0003121	Limb joint contracture
59341	TRPV4	HP:0003103	Abnormal cortical bone morphology
59341	TRPV4	HP:0005743	Avascular necrosis of the capital femoral epiphysis
59341	TRPV4	HP:0000914	Shield chest
59341	TRPV4	HP:0000925	Abnormality of the vertebral column
59341	TRPV4	HP:0000926	Platyspondyly
59341	TRPV4	HP:0003177	Squared iliac bones
59341	TRPV4	HP:0003170	Abnormal acetabulum morphology
59341	TRPV4	HP:0003185	Short greater sciatic notch
59341	TRPV4	HP:0003180	Flat acetabular roof
59341	TRPV4	HP:0000904	Flaring of rib cage
59341	TRPV4	HP:0005793	Shortening of all distal phalanges of the toes
59341	TRPV4	HP:0000887	Cupped ribs
59341	TRPV4	HP:0010228	Absent epiphyses of the phalanges of the hand
59341	TRPV4	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
59341	TRPV4	HP:0003236	Elevated circulating creatine kinase concentration
59341	TRPV4	HP:0004558	Cervical platyspondyly
59341	TRPV4	HP:0004570	Increased vertebral height
59341	TRPV4	HP:0005872	Brachytelomesophalangy
59341	TRPV4	HP:0003273	Hip contracture
59341	TRPV4	HP:0030838	Hip pain
59341	TRPV4	HP:0010307	Stridor
59341	TRPV4	HP:0010306	Short thorax
59341	TRPV4	HP:0000944	Abnormal metaphysis morphology
59341	TRPV4	HP:0005819	Short middle phalanx of finger
59341	TRPV4	HP:0009381	Short finger
59341	TRPV4	HP:0012246	Oculomotor nerve palsy
59341	TRPV4	HP:0005108	Abnormal intervertebral disk morphology
59341	TRPV4	HP:0007759	Opacification of the corneal stroma
59341	TRPV4	HP:0002812	Coxa vara
59341	TRPV4	HP:0002810	Dumbbell-shaped metaphyses
59341	TRPV4	HP:0002825	Caudal appendage
59341	TRPV4	HP:0002826	Halberd-shaped pelvis
59341	TRPV4	HP:0002822	Hyperplasia of the femoral trochanters
59341	TRPV4	HP:0030084	Clinodactyly
59341	TRPV4	HP:0002808	Kyphosis
59341	TRPV4	HP:0002804	Arthrogryposis multiplex congenita
59341	TRPV4	HP:0006380	Knee flexion contracture
59341	TRPV4	HP:0006375	Dumbbell-shaped femur
59341	TRPV4	HP:0005042	Irregular, rachitic-like metaphyses
59341	TRPV4	HP:0005041	Irregular capital femoral epiphysis
59341	TRPV4	HP:0000238	Hydrocephalus
59341	TRPV4	HP:0001552	Barrel-shaped chest
59341	TRPV4	HP:0001547	Abnormal rib cage morphology
59341	TRPV4	HP:0002878	Respiratory failure
59341	TRPV4	HP:0002879	Anisospondyly
59341	TRPV4	HP:0001558	Decreased fetal movement
59341	TRPV4	HP:0002857	Genu valgum
59341	TRPV4	HP:0002870	Obstructive sleep apnea
59341	TRPV4	HP:0002869	Flared iliac wing
59341	TRPV4	HP:0002867	Abnormal ilium morphology
59341	TRPV4	HP:0002834	Flared femoral metaphysis
59341	TRPV4	HP:0002831	Long coccyx
59341	TRPV4	HP:0001510	Growth delay
59341	TRPV4	HP:0031520	Groin pain
59341	TRPV4	HP:0001609	Hoarse voice
59341	TRPV4	HP:0002938	Lumbar hyperlordosis
59341	TRPV4	HP:0002936	Distal sensory impairment
59341	TRPV4	HP:0001604	Vocal cord paresis
59341	TRPV4	HP:0002942	Thoracic kyphosis
59341	TRPV4	HP:0006487	Bowing of the long bones
59341	TRPV4	HP:0000368	Low-set, posteriorly rotated ears
59341	TRPV4	HP:0000348	High forehead
59341	TRPV4	HP:0002983	Micromelia
59341	TRPV4	HP:0002986	Radial bowing
59341	TRPV4	HP:0002987	Elbow flexion contracture
59341	TRPV4	HP:0002970	Genu varum
59341	TRPV4	HP:0030320	Increased intervertebral space
59341	TRPV4	HP:0000407	Sensorineural hearing impairment
59341	TRPV4	HP:0005280	Depressed nasal bridge
59341	TRPV4	HP:0000473	Torticollis
59341	TRPV4	HP:0000470	Short neck
59341	TRPV4	HP:0001763	Pes planus
59341	TRPV4	HP:0001765	Hammertoe
59341	TRPV4	HP:0001760	Abnormal foot morphology
59341	TRPV4	HP:0001762	Talipes equinovarus
59341	TRPV4	HP:0001761	Pes cavus
59341	TRPV4	HP:0030289	Flattened femoral epiphysis
59341	TRPV4	HP:0006703	Aplasia/Hypoplasia of the lungs
59341	TRPV4	HP:0000518	Cataract
59341	TRPV4	HP:0001840	Metatarsus adductus
59341	TRPV4	HP:0001857	Short distal phalanx of toe
59341	TRPV4	HP:0001831	Short toe
59341	TRPV4	HP:0000540	Hypermetropia
59344	ALOXE3	HP:0025114	Hypergranulosis
59344	ALOXE3	HP:0100806	Sepsis
59344	ALOXE3	HP:0007431	Congenital ichthyosiform erythroderma
59344	ALOXE3	HP:0100840	Aplasia/Hypoplasia of the eyebrow
59344	ALOXE3	HP:0000083	Renal insufficiency
59344	ALOXE3	HP:0001376	Limitation of joint mobility
59344	ALOXE3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
59344	ALOXE3	HP:0000007	Autosomal recessive inheritance
59344	ALOXE3	HP:0000164	Abnormality of the dentition
59344	ALOXE3	HP:0100543	Cognitive impairment
59344	ALOXE3	HP:0002046	Heat intolerance
59344	ALOXE3	HP:0003470	Paralysis
59344	ALOXE3	HP:0033252	Palmar hyperlinearity
59344	ALOXE3	HP:0003577	Congenital onset
59344	ALOXE3	HP:0002205	Recurrent respiratory infections
59344	ALOXE3	HP:0100758	Gangrene
59344	ALOXE3	HP:0001019	Erythroderma
59344	ALOXE3	HP:0200020	Corneal erosion
59344	ALOXE3	HP:0025092	Epidermal acanthosis
59344	ALOXE3	HP:0100679	Lack of skin elasticity
59344	ALOXE3	HP:0010783	Erythema
59344	ALOXE3	HP:0006889	Intellectual disability, borderline
59344	ALOXE3	HP:0001944	Dehydration
59344	ALOXE3	HP:0000656	Ectropion
59344	ALOXE3	HP:0004322	Short stature
59344	ALOXE3	HP:0003241	External genital hypoplasia
59344	ALOXE3	HP:0000989	Pruritus
59344	ALOXE3	HP:0000982	Palmoplantar keratoderma
59344	ALOXE3	HP:0000958	Dry skin
59344	ALOXE3	HP:0000970	Anhidrosis
59344	ALOXE3	HP:0000966	Hypohidrosis
59344	ALOXE3	HP:0000962	Hyperkeratosis
59344	ALOXE3	HP:0008070	Sparse hair
59344	ALOXE3	HP:0008064	Ichthyosis
59344	ALOXE3	HP:0009381	Short finger
59344	ALOXE3	HP:0001595	Abnormal hair morphology
59344	ALOXE3	HP:0001597	Abnormality of the nail
59344	ALOXE3	HP:0001596	Alopecia
59344	ALOXE3	HP:0000232	Everted lower lip vermilion
59344	ALOXE3	HP:0001508	Failure to thrive
59344	ALOXE3	HP:0001510	Growth delay
59344	ALOXE3	HP:0011039	Abnormal helix morphology
59344	ALOXE3	HP:0000389	Chronic otitis media
59344	ALOXE3	HP:0000365	Hearing impairment
59344	ALOXE3	HP:0012472	Eclabion
59344	ALOXE3	HP:0000491	Keratitis
59344	ALOXE3	HP:0001792	Small nail
59344	ALOXE3	HP:0001831	Short toe
59344	ALOXE3	HP:0001816	Thin nail
59345	GNB4	HP:0002495	Impaired vibratory sensation
59345	GNB4	HP:0007328	Impaired pain sensation
59345	GNB4	HP:0001265	Hyporeflexia
59345	GNB4	HP:0000006	Autosomal dominant inheritance
59345	GNB4	HP:0008959	Distal upper limb muscle weakness
59345	GNB4	HP:0008944	Distal lower limb amyotrophy
59345	GNB4	HP:0003376	Steppage gait
59345	GNB4	HP:0003383	Onion bulb formation
59345	GNB4	HP:0003450	Axonal regeneration
59345	GNB4	HP:0003438	Absent Achilles reflex
59345	GNB4	HP:0003596	Middle age onset
59345	GNB4	HP:0003677	Slowly progressive
59345	GNB4	HP:0007149	Distal upper limb amyotrophy
59345	GNB4	HP:0003621	Juvenile onset
59345	GNB4	HP:0006844	Absent patellar reflexes
59345	GNB4	HP:0009053	Distal lower limb muscle weakness
59345	GNB4	HP:0011462	Young adult onset
59345	GNB4	HP:0011096	Peripheral demyelination
59345	GNB4	HP:0002936	Distal sensory impairment
59345	GNB4	HP:0001765	Hammertoe
59345	GNB4	HP:0001761	Pes cavus
60386	SLC25A19	HP:0002490	Increased CSF lactate
60386	SLC25A19	HP:0002460	Distal muscle weakness
60386	SLC25A19	HP:0002414	Spina bifida
60386	SLC25A19	HP:0001274	Agenesis of corpus callosum
60386	SLC25A19	HP:0001254	Lethargy
60386	SLC25A19	HP:0001252	Hypotonia
60386	SLC25A19	HP:0001265	Hyporeflexia
60386	SLC25A19	HP:0002509	Limb hypertonia
60386	SLC25A19	HP:0001376	Limitation of joint mobility
60386	SLC25A19	HP:0001371	Flexion contracture
60386	SLC25A19	HP:0001324	Muscle weakness
60386	SLC25A19	HP:0001339	Lissencephaly
60386	SLC25A19	HP:0001338	Partial agenesis of the corpus callosum
60386	SLC25A19	HP:0000007	Autosomal recessive inheritance
60386	SLC25A19	HP:0001336	Myoclonus
60386	SLC25A19	HP:0001320	Cerebellar vermis hypoplasia
60386	SLC25A19	HP:0001321	Cerebellar hypoplasia
60386	SLC25A19	HP:0000185	Cleft soft palate
60386	SLC25A19	HP:0008936	Axial hypotonia
60386	SLC25A19	HP:0002033	Poor suck
60386	SLC25A19	HP:0005968	Temperature instability
60386	SLC25A19	HP:0002069	Bilateral tonic-clonic seizure
60386	SLC25A19	HP:0003477	Peripheral axonal neuropathy
60386	SLC25A19	HP:0003470	Paralysis
60386	SLC25A19	HP:0002119	Ventriculomegaly
60386	SLC25A19	HP:0003577	Congenital onset
60386	SLC25A19	HP:0002240	Hepatomegaly
60386	SLC25A19	HP:0100704	Cerebral visual impairment
60386	SLC25A19	HP:0011968	Feeding difficulties
60386	SLC25A19	HP:0002355	Difficulty walking
60386	SLC25A19	HP:0003621	Juvenile onset
60386	SLC25A19	HP:0000648	Optic atrophy
60386	SLC25A19	HP:0001942	Metabolic acidosis
60386	SLC25A19	HP:0011344	Severe global developmental delay
60386	SLC25A19	HP:0001992	Organic aciduria
60386	SLC25A19	HP:0004331	Decreased skull ossification
60386	SLC25A19	HP:0034198	Second trimester onset
60386	SLC25A19	HP:0000737	Irritability
60386	SLC25A19	HP:0011463	Childhood onset
60386	SLC25A19	HP:0011451	Primary microcephaly
60386	SLC25A19	HP:0005750	Lower-limb joint contracture
60386	SLC25A19	HP:0003128	Lactic acidosis
60386	SLC25A19	HP:0003202	Skeletal muscle atrophy
60386	SLC25A19	HP:0000939	Osteoporosis
60386	SLC25A19	HP:0007750	Hypoplasia of the fovea
60386	SLC25A19	HP:0000237	Small anterior fontanelle
60386	SLC25A19	HP:0000252	Microcephaly
60386	SLC25A19	HP:0001558	Decreased fetal movement
60386	SLC25A19	HP:0001522	Death in infancy
60386	SLC25A19	HP:0001508	Failure to thrive
60386	SLC25A19	HP:0002936	Distal sensory impairment
60386	SLC25A19	HP:0000340	Sloping forehead
60386	SLC25A19	HP:0000347	Micrognathia
60386	SLC25A19	HP:0001762	Talipes equinovarus
60401	EDA2R	HP:0009882	Short distal phalanx of finger
60401	EDA2R	HP:0100840	Aplasia/Hypoplasia of the eyebrow
60401	EDA2R	HP:0002007	Frontal bossing
60401	EDA2R	HP:0002231	Sparse body hair
60401	EDA2R	HP:0100651	Type I diabetes mellitus
60401	EDA2R	HP:0010803	Everted upper lip vermilion
60401	EDA2R	HP:0000684	Delayed eruption of teeth
60401	EDA2R	HP:0000691	Microdontia
60401	EDA2R	HP:0000830	Anterior hypopituitarism
60401	EDA2R	HP:0000822	Hypertension
60401	EDA2R	HP:0000966	Hypohidrosis
60401	EDA2R	HP:0008070	Sparse hair
60401	EDA2R	HP:0000232	Everted lower lip vermilion
60401	EDA2R	HP:0000457	Depressed nasal ridge
60468	BACH2	HP:0032229	Perinuclear antineutrophil antibody positivity
60468	BACH2	HP:0002583	Colitis
60468	BACH2	HP:0000006	Autosomal dominant inheritance
60468	BACH2	HP:0002720	Decreased circulating IgA level
60468	BACH2	HP:0002028	Chronic diarrhea
60468	BACH2	HP:0002113	Pulmonary infiltrates
60468	BACH2	HP:0002110	Bronchiectasis
60468	BACH2	HP:0002206	Pulmonary fibrosis
60468	BACH2	HP:0031808	Decreased basophil count
60468	BACH2	HP:0001945	Fever
60468	BACH2	HP:0004315	Decreased circulating IgG level
60468	BACH2	HP:0100280	Crohn's disease
60468	BACH2	HP:0100279	Ulcerative colitis
60468	BACH2	HP:0002850	Decreased circulating total IgM
60468	BACH2	HP:0001744	Splenomegaly
60468	BACH2	HP:0005425	Recurrent sinopulmonary infections
60468	BACH2	HP:0005479	Decreased circulating IgE
60468	BACH2	HP:0030374	Decreased proportion of memory B cells
60468	BACH2	HP:0001876	Pancytopenia
60481	ELOVL5	HP:0002460	Distal muscle weakness
60481	ELOVL5	HP:0001272	Cerebellar atrophy
60481	ELOVL5	HP:0001251	Ataxia
60481	ELOVL5	HP:0001260	Dysarthria
60481	ELOVL5	HP:0007366	Atrophy/Degeneration affecting the brainstem
60481	ELOVL5	HP:0001337	Tremor
60481	ELOVL5	HP:0000006	Autosomal dominant inheritance
60481	ELOVL5	HP:0001336	Myoclonus
60481	ELOVL5	HP:0002066	Gait ataxia
60481	ELOVL5	HP:0002070	Limb ataxia
60481	ELOVL5	HP:0003477	Peripheral axonal neuropathy
60481	ELOVL5	HP:0003474	Somatic sensory dysfunction
60481	ELOVL5	HP:0003596	Middle age onset
60481	ELOVL5	HP:0002355	Difficulty walking
60481	ELOVL5	HP:0003677	Slowly progressive
60481	ELOVL5	HP:0009830	Peripheral neuropathy
60481	ELOVL5	HP:0006855	Cerebellar vermis atrophy
60481	ELOVL5	HP:0000639	Nystagmus
60481	ELOVL5	HP:0000708	Atypical behavior
60481	ELOVL5	HP:0011462	Young adult onset
60481	ELOVL5	HP:0000514	Slow saccadic eye movements
60482	SLC5A7	HP:0002460	Distal muscle weakness
60482	SLC5A7	HP:0002421	Poor head control
60482	SLC5A7	HP:0003701	Proximal muscle weakness
60482	SLC5A7	HP:0001270	Motor delay
60482	SLC5A7	HP:0001283	Bulbar palsy
60482	SLC5A7	HP:0001284	Areflexia
60482	SLC5A7	HP:0001250	Seizure
60482	SLC5A7	HP:0001252	Hypotonia
60482	SLC5A7	HP:0001251	Ataxia
60482	SLC5A7	HP:0001249	Intellectual disability
60482	SLC5A7	HP:0001265	Hyporeflexia
60482	SLC5A7	HP:0002515	Waddling gait
60482	SLC5A7	HP:0001374	Congenital hip dislocation
60482	SLC5A7	HP:0001388	Joint laxity
60482	SLC5A7	HP:0001324	Muscle weakness
60482	SLC5A7	HP:0000007	Autosomal recessive inheritance
60482	SLC5A7	HP:0001337	Tremor
60482	SLC5A7	HP:0000006	Autosomal dominant inheritance
60482	SLC5A7	HP:0002650	Scoliosis
60482	SLC5A7	HP:0002791	Hypoventilation
60482	SLC5A7	HP:0025401	Staring gaze
60482	SLC5A7	HP:0002751	Kyphoscoliosis
60482	SLC5A7	HP:0002020	Gastroesophageal reflux
60482	SLC5A7	HP:0002033	Poor suck
60482	SLC5A7	HP:0004661	Frontalis muscle weakness
60482	SLC5A7	HP:0003325	Limb-girdle muscle weakness
60482	SLC5A7	HP:0002015	Dysphagia
60482	SLC5A7	HP:0003306	Spinal rigidity
60482	SLC5A7	HP:0003324	Generalized muscle weakness
60482	SLC5A7	HP:0005943	Respiratory arrest
60482	SLC5A7	HP:0003388	Easy fatigability
60482	SLC5A7	HP:0003473	Fatigable weakness
60482	SLC5A7	HP:0003458	EMG: myopathic abnormalities
60482	SLC5A7	HP:0002104	Apnea
60482	SLC5A7	HP:0010536	Central sleep apnea
60482	SLC5A7	HP:0003593	Infantile onset
60482	SLC5A7	HP:0003577	Congenital onset
60482	SLC5A7	HP:0004885	Episodic respiratory distress
60482	SLC5A7	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
60482	SLC5A7	HP:0002205	Recurrent respiratory infections
60482	SLC5A7	HP:0011968	Feeding difficulties
60482	SLC5A7	HP:0010628	Facial palsy
60482	SLC5A7	HP:0002392	EEG with polyspike wave complexes
60482	SLC5A7	HP:0003693	Distal amyotrophy
60482	SLC5A7	HP:0002355	Difficulty walking
60482	SLC5A7	HP:0003677	Slowly progressive
60482	SLC5A7	HP:0009830	Peripheral neuropathy
60482	SLC5A7	HP:0008443	Neuropathic spinal arthropathy
60482	SLC5A7	HP:0003621	Juvenile onset
60482	SLC5A7	HP:0007178	Motor polyneuropathy
60482	SLC5A7	HP:0000639	Nystagmus
60482	SLC5A7	HP:0000651	Diplopia
60482	SLC5A7	HP:0000602	Ophthalmoplegia
60482	SLC5A7	HP:0009053	Distal lower limb muscle weakness
60482	SLC5A7	HP:0031936	Delayed ability to walk
60482	SLC5A7	HP:0000768	Pectus carinatum
60482	SLC5A7	HP:0011469	Nasal regurgitation
60482	SLC5A7	HP:0012801	Narrow jaw
60482	SLC5A7	HP:0003202	Skeletal muscle atrophy
60482	SLC5A7	HP:0030842	Choking episodes
60482	SLC5A7	HP:0010307	Stridor
60482	SLC5A7	HP:0100285	EMG: impaired neuromuscular transmission
60482	SLC5A7	HP:0000961	Cyanosis
60482	SLC5A7	HP:0040131	Abnormal motor nerve conduction velocity
60482	SLC5A7	HP:0100295	Muscle fiber atrophy
60482	SLC5A7	HP:0000276	Long face
60482	SLC5A7	HP:0002808	Kyphosis
60482	SLC5A7	HP:0002804	Arthrogryposis multiplex congenita
60482	SLC5A7	HP:0002882	Sudden episodic apnea
60482	SLC5A7	HP:0000218	High palate
60482	SLC5A7	HP:0001561	Polyhydramnios
60482	SLC5A7	HP:0001558	Decreased fetal movement
60482	SLC5A7	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
60482	SLC5A7	HP:0002870	Obstructive sleep apnea
60482	SLC5A7	HP:0030051	Tip-toe gait
60482	SLC5A7	HP:0030208	Anti-acetylcholine receptor antibody positivity
60482	SLC5A7	HP:0001605	Vocal cord paralysis
60482	SLC5A7	HP:0001604	Vocal cord paresis
60482	SLC5A7	HP:0001618	Dysphonia
60482	SLC5A7	HP:0001612	Weak cry
60482	SLC5A7	HP:0001611	Hypernasal speech
60482	SLC5A7	HP:0000369	Low-set ears
60482	SLC5A7	HP:0000308	Microretrognathia
60482	SLC5A7	HP:0000407	Sensorineural hearing impairment
60482	SLC5A7	HP:0000467	Neck muscle weakness
60482	SLC5A7	HP:0001763	Pes planus
60482	SLC5A7	HP:0001761	Pes cavus
60482	SLC5A7	HP:0000508	Ptosis
60482	SLC5A7	HP:0000597	Ophthalmoparesis
60482	SLC5A7	HP:0000565	Esotropia
60495	HPSE2	HP:0000083	Renal insufficiency
60495	HPSE2	HP:0000076	Vesicoureteral reflux
60495	HPSE2	HP:0000072	Hydroureter
60495	HPSE2	HP:0000020	Urinary incontinence
60495	HPSE2	HP:0000028	Cryptorchidism
60495	HPSE2	HP:0000010	Recurrent urinary tract infections
60495	HPSE2	HP:0000007	Autosomal recessive inheritance
60495	HPSE2	HP:0002607	Bowel incontinence
60495	HPSE2	HP:0000126	Hydronephrosis
60495	HPSE2	HP:0002019	Constipation
60495	HPSE2	HP:0010481	Urethral valve
60495	HPSE2	HP:0001959	Polydipsia
60495	HPSE2	HP:0001999	Abnormal facial shape
60495	HPSE2	HP:0000805	Enuresis
60495	HPSE2	HP:0000796	Urethral obstruction
60495	HPSE2	HP:0000822	Hypertension
60495	HPSE2	HP:0005346	Abnormal facial expression
60506	NYX	HP:0012047	Hemeralopia
60506	NYX	HP:0007663	Reduced visual acuity
60506	NYX	HP:0007642	Congenital stationary night blindness
60506	NYX	HP:0001419	X-linked recessive inheritance
60506	NYX	HP:0000639	Nystagmus
60506	NYX	HP:0030469	Abnormal dark-adapted electroretinogram
60506	NYX	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
60506	NYX	HP:0000662	Nyctalopia
60506	NYX	HP:0030639	Congenital stationary night blindness with abnormal fundus
60506	NYX	HP:0030638	Congenital stationary night blindness with normal fundus
60506	NYX	HP:0011463	Childhood onset
60506	NYX	HP:0007703	Abnormality of retinal pigmentation
60506	NYX	HP:0011003	High myopia
60506	NYX	HP:0030329	Retinal thinning
60506	NYX	HP:0007984	Electronegative electroretinogram
60506	NYX	HP:0000486	Strabismus
60506	NYX	HP:0031705	Compensatory head posture
60506	NYX	HP:0000540	Hypermetropia
60506	NYX	HP:0000551	Color vision defect
60506	NYX	HP:0000545	Myopia
60509	AGBL5	HP:0001249	Intellectual disability
60509	AGBL5	HP:0008736	Hypoplasia of penis
60509	AGBL5	HP:0001347	Hyperreflexia
60509	AGBL5	HP:0000035	Abnormal testis morphology
60509	AGBL5	HP:0000007	Autosomal recessive inheritance
60509	AGBL5	HP:0000135	Hypogonadism
60509	AGBL5	HP:0007675	Progressive night blindness
60509	AGBL5	HP:0005978	Type II diabetes mellitus
60509	AGBL5	HP:0003621	Juvenile onset
60509	AGBL5	HP:0000639	Nystagmus
60509	AGBL5	HP:0000648	Optic atrophy
60509	AGBL5	HP:0000618	Blindness
60509	AGBL5	HP:0000613	Photophobia
60509	AGBL5	HP:0000602	Ophthalmoplegia
60509	AGBL5	HP:0031790	Mixed astigmatism
60509	AGBL5	HP:0000662	Nyctalopia
60509	AGBL5	HP:0000842	Hyperinsulinemia
60509	AGBL5	HP:0000980	Pallor
60509	AGBL5	HP:0000987	Atypical scarring of skin
60509	AGBL5	HP:0008046	Abnormal retinal vascular morphology
60509	AGBL5	HP:0007703	Abnormality of retinal pigmentation
60509	AGBL5	HP:0007737	Bone spicule pigmentation of the retina
60509	AGBL5	HP:0001513	Obesity
60509	AGBL5	HP:0007843	Attenuation of retinal blood vessels
60509	AGBL5	HP:0007994	Peripheral visual field loss
60509	AGBL5	HP:0000407	Sensorineural hearing impairment
60509	AGBL5	HP:0000405	Conductive hearing impairment
60509	AGBL5	HP:0000463	Anteverted nares
60509	AGBL5	HP:0000431	Wide nasal bridge
60509	AGBL5	HP:0000518	Cataract
60509	AGBL5	HP:0000510	Rod-cone dystrophy
60509	AGBL5	HP:0000512	Abnormal electroretinogram
60509	AGBL5	HP:0000505	Visual impairment
60509	AGBL5	HP:0000501	Glaucoma
60509	AGBL5	HP:0000563	Keratoconus
60509	AGBL5	HP:0000545	Myopia
60528	ELAC2	HP:0001252	Hypotonia
60528	ELAC2	HP:0001263	Global developmental delay
60528	ELAC2	HP:0003819	Death in childhood
60528	ELAC2	HP:0008897	Postnatal growth retardation
60528	ELAC2	HP:0000007	Autosomal recessive inheritance
60528	ELAC2	HP:0011923	Decreased activity of mitochondrial complex I
60528	ELAC2	HP:0003593	Infantile onset
60528	ELAC2	HP:0003128	Lactic acidosis
60528	ELAC2	HP:0000252	Microcephaly
60528	ELAC2	HP:0001522	Death in infancy
60528	ELAC2	HP:0001508	Failure to thrive
60528	ELAC2	HP:0001511	Intrauterine growth retardation
60528	ELAC2	HP:0001639	Hypertrophic cardiomyopathy
60528	ELAC2	HP:0001635	Congestive heart failure
60528	ELAC2	HP:0000407	Sensorineural hearing impairment
60529	ALX4	HP:0002475	Myelomeningocele
60529	ALX4	HP:0010941	Aplasia of the nasal bone
60529	ALX4	HP:0003764	Nevus
60529	ALX4	HP:0100809	Scalp tenderness
60529	ALX4	HP:0001274	Agenesis of corpus callosum
60529	ALX4	HP:0001256	Intellectual disability, mild
60529	ALX4	HP:0001250	Seizure
60529	ALX4	HP:0001249	Intellectual disability
60529	ALX4	HP:0001263	Global developmental delay
60529	ALX4	HP:0007418	Alopecia totalis
60529	ALX4	HP:0007385	Aplasia cutis congenita of scalp
60529	ALX4	HP:0008689	Bilateral cryptorchidism
60529	ALX4	HP:0002516	Increased intracranial pressure
60529	ALX4	HP:0000046	Small scrotum
60529	ALX4	HP:0000054	Micropenis
60529	ALX4	HP:0002697	Parietal foramina
60529	ALX4	HP:0001363	Craniosynostosis
60529	ALX4	HP:0001362	Calvarial skull defect
60529	ALX4	HP:0000028	Cryptorchidism
60529	ALX4	HP:0000007	Autosomal recessive inheritance
60529	ALX4	HP:0002667	Nephroblastoma
60529	ALX4	HP:0000006	Autosomal dominant inheritance
60529	ALX4	HP:0001320	Cerebellar vermis hypoplasia
60529	ALX4	HP:0000164	Abnormality of the dentition
60529	ALX4	HP:0000175	Cleft palate
60529	ALX4	HP:0000135	Hypogonadism
60529	ALX4	HP:0410030	Cleft lip
60529	ALX4	HP:0002762	Multiple exostoses
60529	ALX4	HP:0002714	Downturned corners of mouth
60529	ALX4	HP:0002013	Vomiting
60529	ALX4	HP:0002007	Frontal bossing
60529	ALX4	HP:0011803	Bifid nose
60529	ALX4	HP:0002085	Occipital encephalocele
60529	ALX4	HP:0002084	Encephalocele
60529	ALX4	HP:0002079	Hypoplasia of the corpus callosum
60529	ALX4	HP:0010544	Vertical nystagmus
60529	ALX4	HP:0003577	Congenital onset
60529	ALX4	HP:0002213	Fine hair
60529	ALX4	HP:0100777	Exostoses
60529	ALX4	HP:0002342	Intellectual disability, moderate
60529	ALX4	HP:0002335	Agenesis of cerebellar vermis
60529	ALX4	HP:0002315	Headache
60529	ALX4	HP:0008497	Congenital craniofacial dysostosis
60529	ALX4	HP:0010761	Broad columella
60529	ALX4	HP:0000639	Nystagmus
60529	ALX4	HP:0000633	Decreased lacrimation
60529	ALX4	HP:0001903	Anemia
60529	ALX4	HP:0000698	Conical tooth
60529	ALX4	HP:0011326	Anterior plagiocephaly
60529	ALX4	HP:0000687	Widely spaced teeth
60529	ALX4	HP:0000653	Sparse eyelashes
60529	ALX4	HP:0011304	Broad thumb
60529	ALX4	HP:0000666	Horizontal nystagmus
60529	ALX4	HP:0004331	Decreased skull ossification
60529	ALX4	HP:0012745	Short palpebral fissure
60529	ALX4	HP:0012721	Venous malformation
60529	ALX4	HP:0011461	Fetal onset
60529	ALX4	HP:0004440	Coronal craniosynostosis
60529	ALX4	HP:0003191	Cleft ala nasi
60529	ALX4	HP:0012811	Wide nasal ridge
60529	ALX4	HP:0000822	Hypertension
60529	ALX4	HP:0000821	Hypothyroidism
60529	ALX4	HP:0000823	Delayed puberty
60529	ALX4	HP:0000894	Short clavicles
60529	ALX4	HP:0045075	Sparse eyebrow
60529	ALX4	HP:0000966	Hypohidrosis
60529	ALX4	HP:0000932	Abnormal posterior cranial fossa morphology
60529	ALX4	HP:0008070	Sparse hair
60529	ALX4	HP:0040197	Encephalomalacia
60529	ALX4	HP:0000286	Epicanthus
60529	ALX4	HP:0000289	Broad philtrum
60529	ALX4	HP:0001596	Alopecia
60529	ALX4	HP:0000268	Dolichocephaly
60529	ALX4	HP:0000269	Prominent occiput
60529	ALX4	HP:0001583	Rotary nystagmus
60529	ALX4	HP:0000252	Microcephaly
60529	ALX4	HP:0000248	Brachycephaly
60529	ALX4	HP:0001562	Oligohydramnios
60529	ALX4	HP:0001511	Intrauterine growth retardation
60529	ALX4	HP:0000369	Low-set ears
60529	ALX4	HP:0000347	Micrognathia
60529	ALX4	HP:0000316	Hypertelorism
60529	ALX4	HP:0000322	Short philtrum
60529	ALX4	HP:0012480	Abnormal cerebral vein morphology
60529	ALX4	HP:0005280	Depressed nasal bridge
60529	ALX4	HP:0000486	Strabismus
60529	ALX4	HP:0000463	Anteverted nares
60529	ALX4	HP:0000455	Broad nasal tip
60529	ALX4	HP:0000457	Depressed nasal ridge
60529	ALX4	HP:0000456	Bifid nasal tip
60529	ALX4	HP:0031585	Tessier number 13 facial cleft
60529	ALX4	HP:0000437	Depressed nasal tip
60529	ALX4	HP:0000431	Wide nasal bridge
60529	ALX4	HP:0000430	Underdeveloped nasal alae
60529	ALX4	HP:0000426	Prominent nasal bridge
60529	ALX4	HP:0000506	Telecanthus
60529	ALX4	HP:0000582	Upslanted palpebral fissure
60529	ALX4	HP:0000581	Blepharophimosis
60529	ALX4	HP:0011220	Prominent forehead
60529	ALX4	HP:0000568	Microphthalmia
60558	GUF1	HP:0001285	Spastic tetraparesis
60558	GUF1	HP:0001254	Lethargy
60558	GUF1	HP:0001250	Seizure
60558	GUF1	HP:0001252	Hypotonia
60558	GUF1	HP:0001266	Choreoathetosis
60558	GUF1	HP:0001257	Spasticity
60558	GUF1	HP:0002521	Hypsarrhythmia
60558	GUF1	HP:0000007	Autosomal recessive inheritance
60558	GUF1	HP:0001336	Myoclonus
60558	GUF1	HP:0008936	Axial hypotonia
60558	GUF1	HP:0002120	Cerebral cortical atrophy
60558	GUF1	HP:0002187	Intellectual disability, profound
60558	GUF1	HP:0033258	Sudden unexpected death in epilepsy
60558	GUF1	HP:0003577	Congenital onset
60558	GUF1	HP:0200134	Epileptic encephalopathy
60558	GUF1	HP:0033363	Hyaline membranes
60558	GUF1	HP:0011968	Feeding difficulties
60558	GUF1	HP:0002376	Developmental regression
60558	GUF1	HP:0003623	Neonatal onset
60558	GUF1	HP:0012736	Profound global developmental delay
60558	GUF1	HP:0000707	Abnormality of the nervous system
60558	GUF1	HP:0001518	Small for gestational age
60558	GUF1	HP:0001511	Intrauterine growth retardation
60558	GUF1	HP:0012469	Infantile spasms
60558	GUF1	HP:0011121	Abnormality of skin morphology
60561	RINT1	HP:0002480	Hepatic encephalopathy
60561	RINT1	HP:0003819	Death in childhood
60561	RINT1	HP:0001397	Hepatic steatosis
60561	RINT1	HP:0001396	Cholestasis
60561	RINT1	HP:0000007	Autosomal recessive inheritance
60561	RINT1	HP:0008151	Prolonged prothrombin time
60561	RINT1	HP:0010574	Abnormality of the epiphysis of the femoral head
60561	RINT1	HP:0003593	Infantile onset
60561	RINT1	HP:0002240	Hepatomegaly
60561	RINT1	HP:0008479	Hypoplastic vertebral bodies
60561	RINT1	HP:0001987	Hyperammonemia
60561	RINT1	HP:0004322	Short stature
60561	RINT1	HP:0000926	Platyspondyly
60561	RINT1	HP:0003170	Abnormal acetabulum morphology
60561	RINT1	HP:0012852	Hepatic bridging fibrosis
60561	RINT1	HP:0004568	Beaking of vertebral bodies
60561	RINT1	HP:0000952	Jaundice
60561	RINT1	HP:0006554	Acute hepatic failure
60561	RINT1	HP:0002910	Elevated hepatic transaminase
60561	RINT1	HP:0001744	Splenomegaly
60561	RINT1	HP:0001762	Talipes equinovarus
60675	PROK2	HP:0003782	Eunuchoid habitus
60675	PROK2	HP:0001288	Gait disturbance
60675	PROK2	HP:0001250	Seizure
60675	PROK2	HP:0001252	Hypotonia
60675	PROK2	HP:0001251	Ataxia
60675	PROK2	HP:0001260	Dysarthria
60675	PROK2	HP:0008734	Decreased testicular size
60675	PROK2	HP:0008736	Hypoplasia of penis
60675	PROK2	HP:0008724	Hypoplasia of the ovary
60675	PROK2	HP:0003829	Typified by incomplete penetrance
60675	PROK2	HP:0000044	Hypogonadotropic hypogonadism
60675	PROK2	HP:0000054	Micropenis
60675	PROK2	HP:0000026	Male hypogonadism
60675	PROK2	HP:0000028	Cryptorchidism
60675	PROK2	HP:0000027	Azoospermia
60675	PROK2	HP:0000002	Abnormality of body height
60675	PROK2	HP:0001324	Muscle weakness
60675	PROK2	HP:0000013	Hypoplasia of the uterus
60675	PROK2	HP:0000008	Abnormal morphology of female internal genitalia
60675	PROK2	HP:0001335	Bimanual synkinesia
60675	PROK2	HP:0001337	Tremor
60675	PROK2	HP:0000006	Autosomal dominant inheritance
60675	PROK2	HP:0002652	Skeletal dysplasia
60675	PROK2	HP:0032466	Aplasia of the olfactory bulb
60675	PROK2	HP:0000164	Abnormality of the dentition
60675	PROK2	HP:0000175	Cleft palate
60675	PROK2	HP:0000144	Decreased fertility
60675	PROK2	HP:0000118	Phenotypic abnormality
60675	PROK2	HP:0000134	Female hypogonadism
60675	PROK2	HP:0002761	Generalized joint laxity
60675	PROK2	HP:0002757	Recurrent fractures
60675	PROK2	HP:0000104	Renal agenesis
60675	PROK2	HP:0002750	Delayed skeletal maturation
60675	PROK2	HP:0008197	Absence of pubertal development
60675	PROK2	HP:0008187	Absence of secondary sex characteristics
60675	PROK2	HP:0010550	Paraplegia
60675	PROK2	HP:0002231	Sparse body hair
60675	PROK2	HP:0011961	Non-obstructive azoospermia
60675	PROK2	HP:0008527	Congenital sensorineural hearing impairment
60675	PROK2	HP:0009804	Tooth agenesis
60675	PROK2	HP:0100639	Erectile dysfunction
60675	PROK2	HP:0000639	Nystagmus
60675	PROK2	HP:0030680	Abnormality of cardiovascular system morphology
60675	PROK2	HP:0000802	Impotence
60675	PROK2	HP:0004349	Reduced bone mineral density
60675	PROK2	HP:0000771	Gynecomastia
60675	PROK2	HP:0000739	Anxiety
60675	PROK2	HP:0000716	Depression
60675	PROK2	HP:0000786	Primary amenorrhea
60675	PROK2	HP:0004409	Hyposmia
60675	PROK2	HP:0003187	Breast hypoplasia
60675	PROK2	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
60675	PROK2	HP:0000869	Secondary amenorrhea
60675	PROK2	HP:0000830	Anterior hypopituitarism
60675	PROK2	HP:0000819	Diabetes mellitus
60675	PROK2	HP:0000823	Delayed puberty
60675	PROK2	HP:0000939	Osteoporosis
60675	PROK2	HP:0000938	Osteopenia
60675	PROK2	HP:0040171	Decreased serum testosterone concentration
60675	PROK2	HP:0008064	Ichthyosis
60675	PROK2	HP:0030016	Dyspareunia
60675	PROK2	HP:0030019	Increased female libido
60675	PROK2	HP:0001513	Obesity
60675	PROK2	HP:0012385	Camptodactyly
60675	PROK2	HP:0001608	Abnormality of the voice
60675	PROK2	HP:0000316	Hypertelorism
60675	PROK2	HP:0006610	Wide intermamillary distance
60675	PROK2	HP:0000407	Sensorineural hearing impairment
60675	PROK2	HP:0005280	Depressed nasal bridge
60675	PROK2	HP:0000458	Anosmia
60675	PROK2	HP:0001763	Pes planus
60675	PROK2	HP:0001761	Pes cavus
60675	PROK2	HP:0000508	Ptosis
60675	PROK2	HP:0000505	Visual impairment
60675	PROK2	HP:0000551	Color vision defect
60676	PAPPA2	HP:0001166	Arachnodactyly
60676	PAPPA2	HP:0100807	Long fingers
60676	PAPPA2	HP:0008897	Postnatal growth retardation
60676	PAPPA2	HP:0001328	Specific learning disability
60676	PAPPA2	HP:0000007	Autosomal recessive inheritance
60676	PAPPA2	HP:0031107	Decreased fibular diameter
60676	PAPPA2	HP:0010511	Long toe
60676	PAPPA2	HP:0008283	Fasting hyperinsulinemia
60676	PAPPA2	HP:0003621	Juvenile onset
60676	PAPPA2	HP:0000684	Delayed eruption of teeth
60676	PAPPA2	HP:0004322	Short stature
60676	PAPPA2	HP:0034184	Increased insulin like growth factor binding protein acid labile subunit concentration
60676	PAPPA2	HP:0004349	Reduced bone mineral density
60676	PAPPA2	HP:0000938	Osteopenia
60676	PAPPA2	HP:0000252	Microcephaly
60676	PAPPA2	HP:0000331	Short chin
60676	PAPPA2	HP:0000325	Triangular face
60681	FKBP10	HP:0001288	Gait disturbance
60681	FKBP10	HP:0001388	Joint laxity
60681	FKBP10	HP:0001387	Joint stiffness
60681	FKBP10	HP:0002659	Increased susceptibility to fractures
60681	FKBP10	HP:0000007	Autosomal recessive inheritance
60681	FKBP10	HP:0002650	Scoliosis
60681	FKBP10	HP:0002645	Wormian bones
60681	FKBP10	HP:0001315	Reduced tendon reflexes
60681	FKBP10	HP:0000164	Abnormality of the dentition
60681	FKBP10	HP:0002757	Recurrent fractures
60681	FKBP10	HP:0002751	Kyphoscoliosis
60681	FKBP10	HP:0003312	Abnormal form of the vertebral bodies
60681	FKBP10	HP:0002093	Respiratory insufficiency
60681	FKBP10	HP:0001059	Pterygium
60681	FKBP10	HP:0008422	Vertebral wedging
60681	FKBP10	HP:0004322	Short stature
60681	FKBP10	HP:0000768	Pectus carinatum
60681	FKBP10	HP:0000703	Dentinogenesis imperfecta
60681	FKBP10	HP:0000926	Platyspondyly
60681	FKBP10	HP:0003179	Protrusio acetabuli
60681	FKBP10	HP:0003155	Elevated circulating alkaline phosphatase concentration
60681	FKBP10	HP:0000889	Abnormal clavicle morphology
60681	FKBP10	HP:0003273	Hip contracture
60681	FKBP10	HP:0004586	Biconcave vertebral bodies
60681	FKBP10	HP:0000995	Melanocytic nevus
60681	FKBP10	HP:0000978	Bruising susceptibility
60681	FKBP10	HP:0000951	Abnormality of the skin
60681	FKBP10	HP:0000939	Osteoporosis
60681	FKBP10	HP:0000938	Osteopenia
60681	FKBP10	HP:0006466	Ankle flexion contracture
60681	FKBP10	HP:0002812	Coxa vara
60681	FKBP10	HP:0002808	Kyphosis
60681	FKBP10	HP:0002804	Arthrogryposis multiplex congenita
60681	FKBP10	HP:0006380	Knee flexion contracture
60681	FKBP10	HP:0000248	Brachycephaly
60681	FKBP10	HP:0006501	Aplasia/Hypoplasia of the radius
60681	FKBP10	HP:0006498	Aplasia/Hypoplasia of the patella
60681	FKBP10	HP:0006487	Bowing of the long bones
60681	FKBP10	HP:0000364	Hearing abnormality
60681	FKBP10	HP:0002987	Elbow flexion contracture
60681	FKBP10	HP:0000325	Triangular face
60681	FKBP10	HP:0002953	Vertebral compression fracture
60681	FKBP10	HP:0001762	Talipes equinovarus
60681	FKBP10	HP:0000592	Blue sclerae
60681	FKBP10	HP:0000591	Abnormal sclera morphology
60681	FKBP10	HP:0001883	Talipes
60684	TRAPPC11	HP:0002487	Hyperkinetic movements
60684	TRAPPC11	HP:0002465	Poor speech
60684	TRAPPC11	HP:0003701	Proximal muscle weakness
60684	TRAPPC11	HP:0001290	Generalized hypotonia
60684	TRAPPC11	HP:0001272	Cerebellar atrophy
60684	TRAPPC11	HP:0001250	Seizure
60684	TRAPPC11	HP:0001252	Hypotonia
60684	TRAPPC11	HP:0001251	Ataxia
60684	TRAPPC11	HP:0001249	Intellectual disability
60684	TRAPPC11	HP:0001265	Hyporeflexia
60684	TRAPPC11	HP:0001260	Dysarthria
60684	TRAPPC11	HP:0001263	Global developmental delay
60684	TRAPPC11	HP:0002571	Achalasia
60684	TRAPPC11	HP:0007440	Generalized hyperpigmentation
60684	TRAPPC11	HP:0002540	Inability to walk
60684	TRAPPC11	HP:0002515	Waddling gait
60684	TRAPPC11	HP:0001397	Hepatic steatosis
60684	TRAPPC11	HP:0001385	Hip dysplasia
60684	TRAPPC11	HP:0001347	Hyperreflexia
60684	TRAPPC11	HP:0025313	Exophoria
60684	TRAPPC11	HP:0007556	Plantar hyperkeratosis
60684	TRAPPC11	HP:0001332	Dystonia
60684	TRAPPC11	HP:0001344	Absent speech
60684	TRAPPC11	HP:0000007	Autosomal recessive inheritance
60684	TRAPPC11	HP:0001337	Tremor
60684	TRAPPC11	HP:0002650	Scoliosis
60684	TRAPPC11	HP:0008947	Infantile muscular hypotonia
60684	TRAPPC11	HP:0001430	Abnormality of the calf musculature
60684	TRAPPC11	HP:0003326	Myalgia
60684	TRAPPC11	HP:0003307	Hyperlordosis
60684	TRAPPC11	HP:0002093	Respiratory insufficiency
60684	TRAPPC11	HP:0002091	Restrictive ventilatory defect
60684	TRAPPC11	HP:0002069	Bilateral tonic-clonic seizure
60684	TRAPPC11	HP:0003394	Muscle spasm
60684	TRAPPC11	HP:0003391	Gowers sign
60684	TRAPPC11	HP:0002078	Truncal ataxia
60684	TRAPPC11	HP:0002072	Chorea
60684	TRAPPC11	HP:0002059	Cerebral atrophy
60684	TRAPPC11	HP:0010486	Abnormality of the hypothenar eminence
60684	TRAPPC11	HP:0003429	CNS hypomyelination
60684	TRAPPC11	HP:0002240	Hepatomegaly
60684	TRAPPC11	HP:0003560	Muscular dystrophy
60684	TRAPPC11	HP:0007002	Motor axonal neuropathy
60684	TRAPPC11	HP:0011968	Feeding difficulties
60684	TRAPPC11	HP:0002376	Developmental regression
60684	TRAPPC11	HP:0002355	Difficulty walking
60684	TRAPPC11	HP:0002353	EEG abnormality
60684	TRAPPC11	HP:0100633	Esophagitis
60684	TRAPPC11	HP:0002305	Athetosis
60684	TRAPPC11	HP:0009073	Progressive proximal muscle weakness
60684	TRAPPC11	HP:0006889	Intellectual disability, borderline
60684	TRAPPC11	HP:0000648	Optic atrophy
60684	TRAPPC11	HP:0000612	Iris coloboma
60684	TRAPPC11	HP:0009020	Exercise-induced muscle fatigue
60684	TRAPPC11	HP:0004322	Short stature
60684	TRAPPC11	HP:0011463	Childhood onset
60684	TRAPPC11	HP:0012762	Cerebral white matter atrophy
60684	TRAPPC11	HP:0003198	Myopathy
60684	TRAPPC11	HP:0000830	Anterior hypopituitarism
60684	TRAPPC11	HP:0000846	Adrenal insufficiency
60684	TRAPPC11	HP:0040081	Abnormal circulating creatine kinase concentration
60684	TRAPPC11	HP:0003236	Elevated circulating creatine kinase concentration
60684	TRAPPC11	HP:0000982	Palmoplantar keratoderma
60684	TRAPPC11	HP:0100295	Muscle fiber atrophy
60684	TRAPPC11	HP:0005133	Right ventricular dilatation
60684	TRAPPC11	HP:0000252	Microcephaly
60684	TRAPPC11	HP:0001511	Intrauterine growth retardation
60684	TRAPPC11	HP:0011098	Speech apraxia
60684	TRAPPC11	HP:0002910	Elevated hepatic transaminase
60684	TRAPPC11	HP:0000407	Sensorineural hearing impairment
60684	TRAPPC11	HP:0000486	Strabismus
60684	TRAPPC11	HP:0001761	Pes cavus
60684	TRAPPC11	HP:0006785	Limb-girdle muscular dystrophy
60684	TRAPPC11	HP:0000518	Cataract
60684	TRAPPC11	HP:0000522	Alacrima
60684	TRAPPC11	HP:0000505	Visual impairment
60684	TRAPPC11	HP:0000545	Myopia
63035	BCORL1	HP:0001182	Tapered finger
63035	BCORL1	HP:0010864	Intellectual disability, severe
63035	BCORL1	HP:0100807	Long fingers
63035	BCORL1	HP:0001272	Cerebellar atrophy
63035	BCORL1	HP:0001250	Seizure
63035	BCORL1	HP:0001252	Hypotonia
63035	BCORL1	HP:0001263	Global developmental delay
63035	BCORL1	HP:0001419	X-linked recessive inheritance
63035	BCORL1	HP:0002136	Broad-based gait
63035	BCORL1	HP:0002194	Delayed gross motor development
63035	BCORL1	HP:0003593	Infantile onset
63035	BCORL1	HP:0100710	Impulsivity
63035	BCORL1	HP:0007018	Attention deficit hyperactivity disorder
63035	BCORL1	HP:0002307	Drooling
63035	BCORL1	HP:0000767	Pectus excavatum
63035	BCORL1	HP:0000750	Delayed speech and language development
63035	BCORL1	HP:0000718	Aggressive behavior
63035	BCORL1	HP:0000729	Autistic behavior
63035	BCORL1	HP:0012810	Wide nasal base
63035	BCORL1	HP:0008070	Sparse hair
63035	BCORL1	HP:0000280	Coarse facial features
63035	BCORL1	HP:0000276	Long face
63035	BCORL1	HP:0000348	High forehead
63035	BCORL1	HP:0000316	Hypertelorism
63035	BCORL1	HP:0000486	Strabismus
63035	BCORL1	HP:0000494	Downslanted palpebral fissures
63035	BCORL1	HP:0000577	Exotropia
63036	CELA2A	HP:0000006	Autosomal dominant inheritance
63036	CELA2A	HP:0005978	Type II diabetes mellitus
63036	CELA2A	HP:0002155	Hypertriglyceridemia
63036	CELA2A	HP:0004943	Accelerated atherosclerosis
63036	CELA2A	HP:0003141	Increased LDL cholesterol concentration
63036	CELA2A	HP:0000822	Hypertension
63036	CELA2A	HP:0003233	Decreased HDL cholesterol concentration
63036	CELA2A	HP:0040217	Elevated hemoglobin A1c
63036	CELA2A	HP:0001513	Obesity
63036	CELA2A	HP:0001677	Coronary artery atherosclerosis
63036	CELA2A	HP:0001658	Myocardial infarction
63894	VIPAS39	HP:0001290	Generalized hypotonia
63894	VIPAS39	HP:0001252	Hypotonia
63894	VIPAS39	HP:0001263	Global developmental delay
63894	VIPAS39	HP:0000093	Proteinuria
63894	VIPAS39	HP:0001385	Hip dysplasia
63894	VIPAS39	HP:0001339	Lissencephaly
63894	VIPAS39	HP:0000007	Autosomal recessive inheritance
63894	VIPAS39	HP:0002611	Cholestatic liver disease
63894	VIPAS39	HP:0000121	Nephrocalcinosis
63894	VIPAS39	HP:0000112	Nephropathy
63894	VIPAS39	HP:0003355	Aminoaciduria
63894	VIPAS39	HP:0002240	Hepatomegaly
63894	VIPAS39	HP:0200084	Giant cell hepatitis
63894	VIPAS39	HP:0009806	Nephrogenic diabetes insipidus
63894	VIPAS39	HP:0003623	Neonatal onset
63894	VIPAS39	HP:0001947	Renal tubular acidosis
63894	VIPAS39	HP:0001942	Metabolic acidosis
63894	VIPAS39	HP:0003076	Glycosuria
63894	VIPAS39	HP:0000989	Pruritus
63894	VIPAS39	HP:0000952	Jaundice
63894	VIPAS39	HP:0008064	Ichthyosis
63894	VIPAS39	HP:0002804	Arthrogryposis multiplex congenita
63894	VIPAS39	HP:0000252	Microcephaly
63894	VIPAS39	HP:0001522	Death in infancy
63894	VIPAS39	HP:0001508	Failure to thrive
63894	VIPAS39	HP:0002910	Elevated hepatic transaminase
63894	VIPAS39	HP:0002908	Conjugated hyperbilirubinemia
63894	VIPAS39	HP:0000369	Low-set ears
63894	VIPAS39	HP:0000340	Sloping forehead
63894	VIPAS39	HP:0001667	Right ventricular hypertrophy
63894	VIPAS39	HP:0001629	Ventricular septal defect
63894	VIPAS39	HP:0001884	Talipes calcaneovalgus
63895	PIEZO2	HP:0001166	Arachnodactyly
63895	PIEZO2	HP:0002476	Primitive reflex
63895	PIEZO2	HP:0001119	Keratoglobus
63895	PIEZO2	HP:0010935	Abnormality of the upper urinary tract
63895	PIEZO2	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
63895	PIEZO2	HP:0009921	Duane anomaly
63895	PIEZO2	HP:0010871	Sensory ataxia
63895	PIEZO2	HP:0002421	Poor head control
63895	PIEZO2	HP:0003725	Firm muscles
63895	PIEZO2	HP:0001290	Generalized hypotonia
63895	PIEZO2	HP:0001276	Hypertonia
63895	PIEZO2	HP:0001274	Agenesis of corpus callosum
63895	PIEZO2	HP:0001270	Motor delay
63895	PIEZO2	HP:0001284	Areflexia
63895	PIEZO2	HP:0001256	Intellectual disability, mild
63895	PIEZO2	HP:0001250	Seizure
63895	PIEZO2	HP:0001252	Hypotonia
63895	PIEZO2	HP:0001249	Intellectual disability
63895	PIEZO2	HP:0001265	Hyporeflexia
63895	PIEZO2	HP:0001260	Dysarthria
63895	PIEZO2	HP:0001263	Global developmental delay
63895	PIEZO2	HP:0006109	Absent phalangeal crease
63895	PIEZO2	HP:0006101	Finger syndactyly
63895	PIEZO2	HP:0007340	Lower limb muscle weakness
63895	PIEZO2	HP:0008678	Renal hypoplasia/aplasia
63895	PIEZO2	HP:0002540	Inability to walk
63895	PIEZO2	HP:0032342	Reduced forced expiratory volume in one second
63895	PIEZO2	HP:0000089	Renal hypoplasia
63895	PIEZO2	HP:0000077	Abnormality of the kidney
63895	PIEZO2	HP:0000079	Abnormality of the urinary system
63895	PIEZO2	HP:0000072	Hydroureter
63895	PIEZO2	HP:0001374	Congenital hip dislocation
63895	PIEZO2	HP:0001376	Limitation of joint mobility
63895	PIEZO2	HP:0001371	Flexion contracture
63895	PIEZO2	HP:0000036	Abnormal penis morphology
63895	PIEZO2	HP:0000039	Epispadias
63895	PIEZO2	HP:0000054	Micropenis
63895	PIEZO2	HP:0001385	Hip dysplasia
63895	PIEZO2	HP:0001387	Joint stiffness
63895	PIEZO2	HP:0000047	Hypospadias
63895	PIEZO2	HP:0000023	Inguinal hernia
63895	PIEZO2	HP:0000028	Cryptorchidism
63895	PIEZO2	HP:0008897	Postnatal growth retardation
63895	PIEZO2	HP:0008872	Feeding difficulties in infancy
63895	PIEZO2	HP:0006184	Decreased palmar creases
63895	PIEZO2	HP:0001331	Absent septum pellucidum
63895	PIEZO2	HP:0001328	Specific learning disability
63895	PIEZO2	HP:0000007	Autosomal recessive inheritance
63895	PIEZO2	HP:0000003	Multicystic kidney dysplasia
63895	PIEZO2	HP:0000006	Autosomal dominant inheritance
63895	PIEZO2	HP:0001305	Dandy-Walker malformation
63895	PIEZO2	HP:0002650	Scoliosis
63895	PIEZO2	HP:0001321	Cerebellar hypoplasia
63895	PIEZO2	HP:0001319	Neonatal hypotonia
63895	PIEZO2	HP:0000193	Bifid uvula
63895	PIEZO2	HP:0000160	Narrow mouth
63895	PIEZO2	HP:0000176	Submucous cleft hard palate
63895	PIEZO2	HP:0000175	Cleft palate
63895	PIEZO2	HP:0005001	Recurrent patellar dislocation
63895	PIEZO2	HP:0002705	High, narrow palate
63895	PIEZO2	HP:0006251	Limited wrist extension
63895	PIEZO2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
63895	PIEZO2	HP:0000126	Hydronephrosis
63895	PIEZO2	HP:0000110	Renal dysplasia
63895	PIEZO2	HP:0000104	Renal agenesis
63895	PIEZO2	HP:0002751	Kyphoscoliosis
63895	PIEZO2	HP:0002021	Pyloric stenosis
63895	PIEZO2	HP:0002020	Gastroesophageal reflux
63895	PIEZO2	HP:0004673	Decreased facial expression
63895	PIEZO2	HP:0003312	Abnormal form of the vertebral bodies
63895	PIEZO2	HP:0002089	Pulmonary hypoplasia
63895	PIEZO2	HP:0002093	Respiratory insufficiency
63895	PIEZO2	HP:0002091	Restrictive ventilatory defect
63895	PIEZO2	HP:0003390	Sensory axonal neuropathy
63895	PIEZO2	HP:0002044	Zollinger-Ellison syndrome
63895	PIEZO2	HP:0002058	Myopathic facies
63895	PIEZO2	HP:0010489	Absent palmar crease
63895	PIEZO2	HP:0009473	Joint contracture of the hand
63895	PIEZO2	HP:0003484	Upper limb muscle weakness
63895	PIEZO2	HP:0002136	Broad-based gait
63895	PIEZO2	HP:0100490	Camptodactyly of finger
63895	PIEZO2	HP:0010554	Cutaneous finger syndactyly
63895	PIEZO2	HP:0003577	Congenital onset
63895	PIEZO2	HP:0003546	Exercise intolerance
63895	PIEZO2	HP:0003560	Muscular dystrophy
63895	PIEZO2	HP:0007010	Poor fine motor coordination
63895	PIEZO2	HP:0007018	Attention deficit hyperactivity disorder
63895	PIEZO2	HP:0011968	Feeding difficulties
63895	PIEZO2	HP:0003510	Severe short stature
63895	PIEZO2	HP:0007099	Chiari type I malformation
63895	PIEZO2	HP:0007068	Inferior cerebellar vermis hypoplasia
63895	PIEZO2	HP:0002365	Hypoplasia of the brainstem
63895	PIEZO2	HP:0003676	Progressive
63895	PIEZO2	HP:0002334	Abnormal cerebellar vermis morphology
63895	PIEZO2	HP:0200021	Down-sloping shoulders
63895	PIEZO2	HP:0009803	Short phalanx of finger
63895	PIEZO2	HP:0010751	Dimple chin
63895	PIEZO2	HP:0004209	Clinodactyly of the 5th finger
63895	PIEZO2	HP:0000648	Optic atrophy
63895	PIEZO2	HP:0000602	Ophthalmoplegia
63895	PIEZO2	HP:0004322	Short stature
63895	PIEZO2	HP:0004307	Abnormal anatomic location of the heart
63895	PIEZO2	HP:0030680	Abnormality of cardiovascular system morphology
63895	PIEZO2	HP:0031936	Delayed ability to walk
63895	PIEZO2	HP:0005684	Distal arthrogryposis
63895	PIEZO2	HP:0012745	Short palpebral fissure
63895	PIEZO2	HP:0000767	Pectus excavatum
63895	PIEZO2	HP:0000766	Abnormal sternum morphology
63895	PIEZO2	HP:0000768	Pectus carinatum
63895	PIEZO2	HP:0003199	Decreased muscle mass
63895	PIEZO2	HP:0003189	Long nose
63895	PIEZO2	HP:0003184	Decreased hip abduction
63895	PIEZO2	HP:0003236	Elevated circulating creatine kinase concentration
63895	PIEZO2	HP:0005879	Congenital finger flexion contractures
63895	PIEZO2	HP:0003202	Skeletal muscle atrophy
63895	PIEZO2	HP:0000954	Single transverse palmar crease
63895	PIEZO2	HP:0008052	Retinal fold
63895	PIEZO2	HP:0007703	Abnormality of retinal pigmentation
63895	PIEZO2	HP:0000286	Epicanthus
63895	PIEZO2	HP:0000278	Retrognathia
63895	PIEZO2	HP:0000298	Mask-like facies
63895	PIEZO2	HP:0000260	Wide anterior fontanel
63895	PIEZO2	HP:0030084	Clinodactyly
63895	PIEZO2	HP:0002808	Kyphosis
63895	PIEZO2	HP:0002803	Congenital contracture
63895	PIEZO2	HP:0002804	Arthrogryposis multiplex congenita
63895	PIEZO2	HP:0006380	Knee flexion contracture
63895	PIEZO2	HP:0000238	Hydrocephalus
63895	PIEZO2	HP:0000252	Microcephaly
63895	PIEZO2	HP:0000219	Thin upper lip vermilion
63895	PIEZO2	HP:0000218	High palate
63895	PIEZO2	HP:0002875	Exertional dyspnea
63895	PIEZO2	HP:0001508	Failure to thrive
63895	PIEZO2	HP:0001511	Intrauterine growth retardation
63895	PIEZO2	HP:0001510	Growth delay
63895	PIEZO2	HP:0012385	Camptodactyly
63895	PIEZO2	HP:0002938	Lumbar hyperlordosis
63895	PIEZO2	HP:0002944	Thoracolumbar scoliosis
63895	PIEZO2	HP:0001696	Situs inversus totalis
63895	PIEZO2	HP:0000365	Hearing impairment
63895	PIEZO2	HP:0000358	Posteriorly rotated ears
63895	PIEZO2	HP:0000369	Low-set ears
63895	PIEZO2	HP:0000343	Long philtrum
63895	PIEZO2	HP:0000347	Micrognathia
63895	PIEZO2	HP:0001651	Dextrocardia
63895	PIEZO2	HP:0000316	Hypertelorism
63895	PIEZO2	HP:0002974	Radioulnar synostosis
63895	PIEZO2	HP:0000325	Triangular face
63895	PIEZO2	HP:0000324	Facial asymmetry
63895	PIEZO2	HP:0001629	Ventricular septal defect
63895	PIEZO2	HP:0005329	Fixed facial expression
63895	PIEZO2	HP:0000400	Macrotia
63895	PIEZO2	HP:0000483	Astigmatism
63895	PIEZO2	HP:0000486	Strabismus
63895	PIEZO2	HP:0000490	Deeply set eye
63895	PIEZO2	HP:0000463	Anteverted nares
63895	PIEZO2	HP:0000470	Short neck
63895	PIEZO2	HP:0001763	Pes planus
63895	PIEZO2	HP:0001776	Bilateral talipes equinovarus
63895	PIEZO2	HP:0000411	Protruding ear
63895	PIEZO2	HP:0001762	Talipes equinovarus
63895	PIEZO2	HP:0000431	Wide nasal bridge
63895	PIEZO2	HP:0001845	Overlapping toe
63895	PIEZO2	HP:0001840	Metatarsus adductus
63895	PIEZO2	HP:0000512	Abnormal electroretinogram
63895	PIEZO2	HP:0001852	Sandal gap
63895	PIEZO2	HP:0000508	Ptosis
63895	PIEZO2	HP:0001836	Camptodactyly of toe
63895	PIEZO2	HP:0000505	Visual impairment
63895	PIEZO2	HP:0004097	Deviation of finger
63895	PIEZO2	HP:0000581	Blepharophimosis
63895	PIEZO2	HP:0000563	Keratoconus
63895	PIEZO2	HP:0000568	Microphthalmia
63895	PIEZO2	HP:0000540	Hypermetropia
63895	PIEZO2	HP:0001883	Talipes
63899	NSUN3	HP:0001250	Seizure
63899	NSUN3	HP:0001252	Hypotonia
63899	NSUN3	HP:0001263	Global developmental delay
63899	NSUN3	HP:0001324	Muscle weakness
63899	NSUN3	HP:0000007	Autosomal recessive inheritance
63899	NSUN3	HP:0002151	Increased serum lactate
63899	NSUN3	HP:0011924	Decreased activity of mitochondrial complex III
63899	NSUN3	HP:0011923	Decreased activity of mitochondrial complex I
63899	NSUN3	HP:0003593	Infantile onset
63899	NSUN3	HP:0008347	Decreased activity of mitochondrial complex IV
63899	NSUN3	HP:0000639	Nystagmus
63899	NSUN3	HP:0012762	Cerebral white matter atrophy
63899	NSUN3	HP:0003128	Lactic acidosis
63899	NSUN3	HP:0030890	Hyperintensity of cerebral white matter on MRI
63899	NSUN3	HP:0000252	Microcephaly
63899	NSUN3	HP:0001508	Failure to thrive
63899	NSUN3	HP:0000544	External ophthalmoplegia
63901	FAM111A	HP:0001156	Brachydactyly
63901	FAM111A	HP:0001250	Seizure
63901	FAM111A	HP:0001249	Intellectual disability
63901	FAM111A	HP:0001263	Global developmental delay
63901	FAM111A	HP:0008734	Decreased testicular size
63901	FAM111A	HP:0000054	Micropenis
63901	FAM111A	HP:0008897	Postnatal growth retardation
63901	FAM111A	HP:0000006	Autosomal dominant inheritance
63901	FAM111A	HP:0001476	Delayed closure of the anterior fontanelle
63901	FAM111A	HP:0006335	Persistence of primary teeth
63901	FAM111A	HP:0007633	Bilateral microphthalmos
63901	FAM111A	HP:0006270	Hypoplastic spleen
63901	FAM111A	HP:0002750	Delayed skeletal maturation
63901	FAM111A	HP:0008198	Congenital hypoparathyroidism
63901	FAM111A	HP:0003472	Hypocalcemic tetany
63901	FAM111A	HP:0002135	Basal ganglia calcification
63901	FAM111A	HP:0002199	Hypocalcemic seizures
63901	FAM111A	HP:0008285	Transient hypophosphatemia
63901	FAM111A	HP:0003577	Congenital onset
63901	FAM111A	HP:0003510	Severe short stature
63901	FAM111A	HP:0001085	Papilledema
63901	FAM111A	HP:0001903	Anemia
63901	FAM111A	HP:0000670	Carious teeth
63901	FAM111A	HP:0004322	Short stature
63901	FAM111A	HP:0004331	Decreased skull ossification
63901	FAM111A	HP:0003015	Flared metaphysis
63901	FAM111A	HP:0003100	Slender long bone
63901	FAM111A	HP:0005791	Cortical thickening of long bone diaphyses
63901	FAM111A	HP:0000883	Thin ribs
63901	FAM111A	HP:0000829	Hypoparathyroidism
63901	FAM111A	HP:0010296	Ankyloglossia
63901	FAM111A	HP:0100253	Abnormality of the medullary cavity of the long bones
63901	FAM111A	HP:0100254	Stenosis of the medullary cavity of the long bones
63901	FAM111A	HP:0000935	Thickened cortex of long bones
63901	FAM111A	HP:0000256	Macrocephaly
63901	FAM111A	HP:0000270	Delayed cranial suture closure
63901	FAM111A	HP:0006470	Thin long bone diaphyses
63901	FAM111A	HP:0000238	Hydrocephalus
63901	FAM111A	HP:0001522	Death in infancy
63901	FAM111A	HP:0001541	Ascites
63901	FAM111A	HP:0001508	Failure to thrive
63901	FAM111A	HP:0001518	Small for gestational age
63901	FAM111A	HP:0001511	Intrauterine growth retardation
63901	FAM111A	HP:0001510	Growth delay
63901	FAM111A	HP:0007862	Retinal calcification
63901	FAM111A	HP:0002905	Hyperphosphatemia
63901	FAM111A	HP:0002901	Hypocalcemia
63901	FAM111A	HP:0011001	Increased bone mineral density
63901	FAM111A	HP:0000316	Hypertelorism
63901	FAM111A	HP:0001620	High pitched voice
63901	FAM111A	HP:0001746	Asplenia
63901	FAM111A	HP:0005490	Postnatal macrocephaly
63901	FAM111A	HP:0005450	Calvarial osteosclerosis
63901	FAM111A	HP:0000519	Developmental cataract
63901	FAM111A	HP:0000526	Aniridia
63901	FAM111A	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration
63901	FAM111A	HP:0011220	Prominent forehead
63901	FAM111A	HP:0000568	Microphthalmia
63901	FAM111A	HP:0000540	Hypermetropia
63908	NAPB	HP:0020221	Clonic seizure
63908	NAPB	HP:0001250	Seizure
63908	NAPB	HP:0001252	Hypotonia
63908	NAPB	HP:0001263	Global developmental delay
63908	NAPB	HP:0008872	Feeding difficulties in infancy
63908	NAPB	HP:0000007	Autosomal recessive inheritance
63908	NAPB	HP:0008936	Axial hypotonia
63908	NAPB	HP:0002187	Intellectual disability, profound
63908	NAPB	HP:0003593	Infantile onset
63908	NAPB	HP:0200134	Epileptic encephalopathy
63908	NAPB	HP:0000253	Progressive microcephaly
63908	NAPB	HP:0000252	Microcephaly
63908	NAPB	HP:0012389	Appendicular hypotonia
63908	NAPB	HP:0032792	Tonic seizure
63908	NAPB	HP:0000505	Visual impairment
63910	SLC17A9	HP:0000006	Autosomal dominant inheritance
63910	SLC17A9	HP:0200034	Papule
63910	SLC17A9	HP:0200044	Porokeratosis
63910	SLC17A9	HP:0003621	Juvenile onset
63910	SLC17A9	HP:0011462	Young adult onset
63910	SLC17A9	HP:0000992	Cutaneous photosensitivity
63910	SLC17A9	HP:0000989	Pruritus
63910	SLC17A9	HP:0002860	Squamous cell carcinoma
63915	BLOC1S5	HP:0001107	Ocular albinism
63915	BLOC1S5	HP:0033535	Reduced platelet dense granules
63915	BLOC1S5	HP:0000007	Autosomal recessive inheritance
63915	BLOC1S5	HP:0007663	Reduced visual acuity
63915	BLOC1S5	HP:0000132	Menorrhagia
63915	BLOC1S5	HP:0002286	Fair hair
63915	BLOC1S5	HP:0008320	Impaired collagen-induced platelet aggregation
63915	BLOC1S5	HP:0001022	Albinism
63915	BLOC1S5	HP:0000639	Nystagmus
63915	BLOC1S5	HP:0000613	Photophobia
63915	BLOC1S5	HP:0012805	Iris transillumination defect
63915	BLOC1S5	HP:0000995	Melanocytic nevus
63915	BLOC1S5	HP:0000978	Bruising susceptibility
63915	BLOC1S5	HP:0007750	Hypoplasia of the fovea
63915	BLOC1S5	HP:0000225	Gingival bleeding
63915	BLOC1S5	HP:0000486	Strabismus
63915	BLOC1S5	HP:0000421	Epistaxis
63916	ELMO2	HP:0001250	Seizure
63916	ELMO2	HP:0001249	Intellectual disability
63916	ELMO2	HP:0410276	Supraumbilical raphe
63916	ELMO2	HP:0002516	Increased intracranial pressure
63916	ELMO2	HP:0000007	Autosomal recessive inheritance
63916	ELMO2	HP:0000189	Narrow palate
63916	ELMO2	HP:0000169	Gingival fibromatosis
63916	ELMO2	HP:0002797	Osteolysis
63916	ELMO2	HP:0100585	Telangiectasia of the skin
63916	ELMO2	HP:0002230	Generalized hirsutism
63916	ELMO2	HP:0003676	Progressive
63916	ELMO2	HP:4000093	Ectopic tooth eruption
63916	ELMO2	HP:0001931	Hypochromic anemia
63916	ELMO2	HP:0000682	Abnormal dental enamel morphology
63916	ELMO2	HP:0000684	Delayed eruption of teeth
63916	ELMO2	HP:0003155	Elevated circulating alkaline phosphatase concentration
63916	ELMO2	HP:0000819	Diabetes mellitus
63916	ELMO2	HP:0000962	Hyperkeratosis
63916	ELMO2	HP:0007703	Abnormality of retinal pigmentation
63916	ELMO2	HP:0000293	Full cheeks
63916	ELMO2	HP:0000225	Gingival bleeding
63916	ELMO2	HP:0001540	Diastasis recti
63916	ELMO2	HP:0001537	Umbilical hernia
63916	ELMO2	HP:0001508	Failure to thrive
63916	ELMO2	HP:0000324	Facial asymmetry
63916	ELMO2	HP:0000407	Sensorineural hearing impairment
63916	ELMO2	HP:0000405	Conductive hearing impairment
63916	ELMO2	HP:0000520	Proptosis
63916	ELMO2	HP:0000593	Abnormal anterior chamber morphology
63916	ELMO2	HP:0000572	Visual loss
63924	CIDEC	HP:0003712	Skeletal muscle hypertrophy
63924	CIDEC	HP:0001397	Hepatic steatosis
63924	CIDEC	HP:0000007	Autosomal recessive inheritance
63924	CIDEC	HP:0000147	Polycystic ovaries
63924	CIDEC	HP:0008981	Calf muscle hypertrophy
63924	CIDEC	HP:0002155	Hypertriglyceridemia
63924	CIDEC	HP:0002240	Hepatomegaly
63924	CIDEC	HP:0003635	Loss of subcutaneous adipose tissue in limbs
63924	CIDEC	HP:0003621	Juvenile onset
63924	CIDEC	HP:0001953	Diabetic ketoacidosis
63924	CIDEC	HP:0009017	Loss of gluteal subcutaneous adipose tissue
63924	CIDEC	HP:0030685	Decreased adiponectin level
63924	CIDEC	HP:0003077	Hyperlipidemia
63924	CIDEC	HP:0009125	Lipodystrophy
63924	CIDEC	HP:0030796	Increased C-peptide level
63924	CIDEC	HP:0000876	Oligomenorrhea
63924	CIDEC	HP:0000858	Irregular menstruation
63924	CIDEC	HP:0000831	Insulin-resistant diabetes mellitus
63924	CIDEC	HP:0000822	Hypertension
63924	CIDEC	HP:0003292	Decreased serum leptin
63924	CIDEC	HP:0000956	Acanthosis nigricans
63924	CIDEC	HP:0000292	Loss of facial adipose tissue
63924	CIDEC	HP:0001733	Pancreatitis
63925	ZNF335	HP:0002472	Small cerebral cortex
63925	ZNF335	HP:0009879	Simplified gyral pattern
63925	ZNF335	HP:0001276	Hypertonia
63925	ZNF335	HP:0001272	Cerebellar atrophy
63925	ZNF335	HP:0001274	Agenesis of corpus callosum
63925	ZNF335	HP:0001257	Spasticity
63925	ZNF335	HP:0002538	Abnormal cerebral cortex morphology
63925	ZNF335	HP:0000007	Autosomal recessive inheritance
63925	ZNF335	HP:0001317	Abnormal cerebellum morphology
63925	ZNF335	HP:0002060	Abnormal cerebral morphology
63925	ZNF335	HP:0002059	Cerebral atrophy
63925	ZNF335	HP:0002119	Ventriculomegaly
63925	ZNF335	HP:0002188	Delayed CNS myelination
63925	ZNF335	HP:0002171	Gliosis
63925	ZNF335	HP:0003577	Congenital onset
63925	ZNF335	HP:0011344	Severe global developmental delay
63925	ZNF335	HP:0011451	Primary microcephaly
63925	ZNF335	HP:0012757	Abnormal neuron morphology
63925	ZNF335	HP:0100307	Cerebellar hemisphere hypoplasia
63925	ZNF335	HP:0034295	Reduced cerebral white matter volume
63925	ZNF335	HP:0002804	Arthrogryposis multiplex congenita
63925	ZNF335	HP:0000252	Microcephaly
63925	ZNF335	HP:0001518	Small for gestational age
63925	ZNF335	HP:0001511	Intrauterine growth retardation
63925	ZNF335	HP:0000340	Sloping forehead
63925	ZNF335	HP:0000347	Micrognathia
63925	ZNF335	HP:0012444	Brain atrophy
63925	ZNF335	HP:0000453	Choanal atresia
63925	ZNF335	HP:0000426	Prominent nasal bridge
63925	ZNF335	HP:0000518	Cataract
63929	XPNPEP3	HP:0003774	Stage 5 chronic kidney disease
63929	XPNPEP3	HP:0001250	Seizure
63929	XPNPEP3	HP:0001249	Intellectual disability
63929	XPNPEP3	HP:0000090	Nephronophthisis
63929	XPNPEP3	HP:0000092	Renal tubular atrophy
63929	XPNPEP3	HP:0000007	Autosomal recessive inheritance
63929	XPNPEP3	HP:0006280	Chronic pancreatitis
63929	XPNPEP3	HP:0000108	Renal corticomedullary cysts
63929	XPNPEP3	HP:0004719	Hyperechogenic kidneys
63929	XPNPEP3	HP:0100702	Arachnoid cyst
63929	XPNPEP3	HP:0005583	Tubular basement membrane disintegration
63929	XPNPEP3	HP:0000822	Hypertension
63929	XPNPEP3	HP:0030186	Kinetic tremor
63929	XPNPEP3	HP:0000407	Sensorineural hearing impairment
63929	XPNPEP3	HP:0001737	Pancreatic cysts
63931	MRPS14	HP:0001290	Generalized hypotonia
63931	MRPS14	HP:0001263	Global developmental delay
63931	MRPS14	HP:0000007	Autosomal recessive inheritance
63931	MRPS14	HP:0003348	Hyperalaninemia
63931	MRPS14	HP:0011800	Midface retrusion
63931	MRPS14	HP:0002093	Respiratory insufficiency
63931	MRPS14	HP:0002151	Increased serum lactate
63931	MRPS14	HP:0011924	Decreased activity of mitochondrial complex III
63931	MRPS14	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
63931	MRPS14	HP:0011923	Decreased activity of mitochondrial complex I
63931	MRPS14	HP:0008347	Decreased activity of mitochondrial complex IV
63931	MRPS14	HP:0008322	Abnormal mitochondrial morphology
63931	MRPS14	HP:0031936	Delayed ability to walk
63931	MRPS14	HP:0000750	Delayed speech and language development
63931	MRPS14	HP:0003128	Lactic acidosis
63931	MRPS14	HP:0001508	Failure to thrive
63931	MRPS14	HP:0000358	Posteriorly rotated ears
63931	MRPS14	HP:0000369	Low-set ears
63931	MRPS14	HP:0000316	Hypertelorism
63931	MRPS14	HP:0001639	Hypertrophic cardiomyopathy
63931	MRPS14	HP:0001716	Wolff-Parkinson-White syndrome
63931	MRPS14	HP:0005280	Depressed nasal bridge
63932	STEEP1	HP:0009899	Prominent crus of helix
63932	STEEP1	HP:0001250	Seizure
63932	STEEP1	HP:0001249	Intellectual disability
63932	STEEP1	HP:0001263	Global developmental delay
63932	STEEP1	HP:0001417	X-linked inheritance
63932	STEEP1	HP:0011822	Broad chin
63932	STEEP1	HP:0007018	Attention deficit hyperactivity disorder
63932	STEEP1	HP:0000752	Hyperactivity
63932	STEEP1	HP:0000739	Anxiety
63932	STEEP1	HP:0000718	Aggressive behavior
63932	STEEP1	HP:0000729	Autistic behavior
63932	STEEP1	HP:0000275	Narrow face
63932	STEEP1	HP:0000276	Long face
63932	STEEP1	HP:0000219	Thin upper lip vermilion
63932	STEEP1	HP:0001513	Obesity
63932	STEEP1	HP:0000337	Broad forehead
63932	STEEP1	HP:0000319	Smooth philtrum
63932	STEEP1	HP:0000303	Mandibular prognathia
63932	STEEP1	HP:0000400	Macrotia
63932	STEEP1	HP:0011245	Abnormality of superior crus of antihelix
63932	STEEP1	HP:0000582	Upslanted palpebral fissure
63976	PRDM16	HP:0001156	Brachydactyly
63976	PRDM16	HP:0002465	Poor speech
63976	PRDM16	HP:0001107	Ocular albinism
63976	PRDM16	HP:0025169	Left ventricular systolic dysfunction
63976	PRDM16	HP:0025168	Left ventricular diastolic dysfunction
63976	PRDM16	HP:0008551	Microtia
63976	PRDM16	HP:0001274	Agenesis of corpus callosum
63976	PRDM16	HP:0001288	Gait disturbance
63976	PRDM16	HP:0001250	Seizure
63976	PRDM16	HP:0001252	Hypotonia
63976	PRDM16	HP:0001249	Intellectual disability
63976	PRDM16	HP:0002591	Polyphagia
63976	PRDM16	HP:0001263	Global developmental delay
63976	PRDM16	HP:0008736	Hypoplasia of penis
63976	PRDM16	HP:0001397	Hepatic steatosis
63976	PRDM16	HP:0001392	Abnormality of the liver
63976	PRDM16	HP:0000077	Abnormality of the kidney
63976	PRDM16	HP:0000055	Abnormality of female external genitalia
63976	PRDM16	HP:0001385	Hip dysplasia
63976	PRDM16	HP:0001387	Joint stiffness
63976	PRDM16	HP:0000047	Hypospadias
63976	PRDM16	HP:0000028	Cryptorchidism
63976	PRDM16	HP:0008872	Feeding difficulties in infancy
63976	PRDM16	HP:0001344	Absent speech
63976	PRDM16	HP:0000006	Autosomal dominant inheritance
63976	PRDM16	HP:0002650	Scoliosis
63976	PRDM16	HP:0000160	Narrow mouth
63976	PRDM16	HP:0000135	Hypogonadism
63976	PRDM16	HP:0000126	Hydronephrosis
63976	PRDM16	HP:0000107	Renal cyst
63976	PRDM16	HP:0002715	Abnormality of the immune system
63976	PRDM16	HP:0002021	Pyloric stenosis
63976	PRDM16	HP:0002020	Gastroesophageal reflux
63976	PRDM16	HP:0002019	Constipation
63976	PRDM16	HP:0002015	Dysphagia
63976	PRDM16	HP:0002007	Frontal bossing
63976	PRDM16	HP:0011800	Midface retrusion
63976	PRDM16	HP:0100559	Lower limb asymmetry
63976	PRDM16	HP:0100578	Lipoatrophy
63976	PRDM16	HP:0002120	Cerebral cortical atrophy
63976	PRDM16	HP:0002119	Ventriculomegaly
63976	PRDM16	HP:0003457	EMG abnormality
63976	PRDM16	HP:0003416	Spinal canal stenosis
63976	PRDM16	HP:0002167	Abnormality of speech or vocalization
63976	PRDM16	HP:0100490	Camptodactyly of finger
63976	PRDM16	HP:0002242	Abnormal intestine morphology
63976	PRDM16	HP:0100716	Self-injurious behavior
63976	PRDM16	HP:0002230	Generalized hirsutism
63976	PRDM16	HP:0001009	Telangiectasia
63976	PRDM16	HP:0002353	EEG abnormality
63976	PRDM16	HP:0008499	High hypermetropia
63976	PRDM16	HP:0003621	Juvenile onset
63976	PRDM16	HP:0004209	Clinodactyly of the 5th finger
63976	PRDM16	HP:0006824	Cranial nerve paralysis
63976	PRDM16	HP:0000639	Nystagmus
63976	PRDM16	HP:0000648	Optic atrophy
63976	PRDM16	HP:0004322	Short stature
63976	PRDM16	HP:0030680	Abnormality of cardiovascular system morphology
63976	PRDM16	HP:0030682	Left ventricular noncompaction
63976	PRDM16	HP:0004378	Abnormality of the anus
63976	PRDM16	HP:0004374	Hemiplegia/hemiparesis
63976	PRDM16	HP:0003006	Neuroblastoma
63976	PRDM16	HP:0012733	Macule
63976	PRDM16	HP:0000733	Abnormal repetitive mannerisms
63976	PRDM16	HP:0000750	Delayed speech and language development
63976	PRDM16	HP:0000717	Autism
63976	PRDM16	HP:0000708	Atypical behavior
63976	PRDM16	HP:0011462	Young adult onset
63976	PRDM16	HP:0003198	Myopathy
63976	PRDM16	HP:0000902	Rib fusion
63976	PRDM16	HP:0000878	11 pairs of ribs
63976	PRDM16	HP:0000892	Bifid ribs
63976	PRDM16	HP:0000821	Hypothyroidism
63976	PRDM16	HP:0003236	Elevated circulating creatine kinase concentration
63976	PRDM16	HP:0000982	Palmoplantar keratoderma
63976	PRDM16	HP:0008066	Abnormal blistering of the skin
63976	PRDM16	HP:0011675	Arrhythmia
63976	PRDM16	HP:0000286	Epicanthus
63976	PRDM16	HP:0000270	Delayed cranial suture closure
63976	PRDM16	HP:0005113	Aortic arch aneurysm
63976	PRDM16	HP:0002808	Kyphosis
63976	PRDM16	HP:0000252	Microcephaly
63976	PRDM16	HP:0000248	Brachycephaly
63976	PRDM16	HP:0001508	Failure to thrive
63976	PRDM16	HP:0001513	Obesity
63976	PRDM16	HP:0000368	Low-set, posteriorly rotated ears
63976	PRDM16	HP:0001671	Abnormal cardiac septum morphology
63976	PRDM16	HP:0000343	Long philtrum
63976	PRDM16	HP:0001643	Patent ductus arteriosus
63976	PRDM16	HP:0001644	Dilated cardiomyopathy
63976	PRDM16	HP:0001654	Abnormal heart valve morphology
63976	PRDM16	HP:0001653	Mitral regurgitation
63976	PRDM16	HP:0001636	Tetralogy of Fallot
63976	PRDM16	HP:0001635	Congestive heart failure
63976	PRDM16	HP:0000307	Pointed chin
63976	PRDM16	HP:0000407	Sensorineural hearing impairment
63976	PRDM16	HP:0001734	Annular pancreas
63976	PRDM16	HP:0000405	Conductive hearing impairment
63976	PRDM16	HP:0005280	Depressed nasal bridge
63976	PRDM16	HP:0000486	Strabismus
63976	PRDM16	HP:0000490	Deeply set eye
63976	PRDM16	HP:0000464	Abnormality of the neck
63976	PRDM16	HP:0000457	Depressed nasal ridge
63976	PRDM16	HP:0001773	Short foot
63976	PRDM16	HP:0001743	Abnormality of the spleen
63976	PRDM16	HP:0000431	Wide nasal bridge
63976	PRDM16	HP:0000518	Cataract
63976	PRDM16	HP:0001829	Foot polydactyly
63976	PRDM16	HP:0000505	Visual impairment
63976	PRDM16	HP:0000504	Abnormality of vision
63976	PRDM16	HP:0011228	Horizontal eyebrow
63976	PRDM16	HP:0000534	Abnormal eyebrow morphology
63976	PRDM16	HP:0001874	Abnormality of neutrophils
63982	ANO3	HP:0002451	Limb dystonia
63982	ANO3	HP:0007351	Upper limb postural tremor
63982	ANO3	HP:0003829	Typified by incomplete penetrance
63982	ANO3	HP:0012048	Oromandibular dystonia
63982	ANO3	HP:0000006	Autosomal dominant inheritance
63982	ANO3	HP:0001336	Myoclonus
63982	ANO3	HP:0200085	Limb tremor
63982	ANO3	HP:0002378	Hand tremor
63982	ANO3	HP:0002346	Head tremor
63982	ANO3	HP:0003621	Juvenile onset
63982	ANO3	HP:0000643	Blepharospasm
63982	ANO3	HP:0031960	Arm dystonia
63982	ANO3	HP:0011462	Young adult onset
63982	ANO3	HP:0001600	Abnormality of the larynx
63982	ANO3	HP:0012477	Vocal tremor
63982	ANO3	HP:0000473	Torticollis
64065	PERP	HP:0100825	Cheilitis
64065	PERP	HP:0001250	Seizure
64065	PERP	HP:0001231	Abnormal fingernail morphology
64065	PERP	HP:0033707	Perioral hyperkeratosis
64065	PERP	HP:0007410	Palmoplantar hyperhidrosis
64065	PERP	HP:0031057	Skin fissure
64065	PERP	HP:0031013	Ankylosis
64065	PERP	HP:0000007	Autosomal recessive inheritance
64065	PERP	HP:0000006	Autosomal dominant inheritance
64065	PERP	HP:0000164	Abnormality of the dentition
64065	PERP	HP:0000157	Abnormality of the tongue
64065	PERP	HP:0000168	Abnormality of the gingiva
64065	PERP	HP:0002797	Osteolysis
64065	PERP	HP:0100526	Neoplasm of the lung
64065	PERP	HP:0011830	Abnormal oral mucosa morphology
64065	PERP	HP:0003593	Infantile onset
64065	PERP	HP:0002224	Woolly hair
64065	PERP	HP:0002289	Alopecia universalis
64065	PERP	HP:0001036	Parakeratosis
64065	PERP	HP:0025092	Epidermal acanthosis
64065	PERP	HP:0001072	Thickened skin
64065	PERP	HP:0200042	Skin ulcer
64065	PERP	HP:0010783	Erythema
64065	PERP	HP:0000670	Carious teeth
64065	PERP	HP:0000668	Hypodontia
64065	PERP	HP:0000972	Palmoplantar hyperkeratosis
64065	PERP	HP:0000989	Pruritus
64065	PERP	HP:0000982	Palmoplantar keratoderma
64065	PERP	HP:0000970	Anhidrosis
64065	PERP	HP:0000962	Hyperkeratosis
64065	PERP	HP:0008070	Sparse hair
64065	PERP	HP:0008069	Neoplasm of the skin
64065	PERP	HP:0001596	Alopecia
64065	PERP	HP:0002861	Melanoma
64065	PERP	HP:0030044	Flexion contracture of digit
64065	PERP	HP:0000407	Sensorineural hearing impairment
64065	PERP	HP:0001810	Dystrophic toenail
64072	CDH23	HP:0001123	Visual field defect
64072	CDH23	HP:0001117	Sudden loss of visual acuity
64072	CDH23	HP:0010885	Avascular necrosis
64072	CDH23	HP:0001297	Stroke
64072	CDH23	HP:0025269	Panic attack
64072	CDH23	HP:0100829	Galactorrhea
64072	CDH23	HP:0001250	Seizure
64072	CDH23	HP:0001251	Ataxia
64072	CDH23	HP:0001249	Intellectual disability
64072	CDH23	HP:0001263	Global developmental delay
64072	CDH23	HP:0007360	Aplasia/Hypoplasia of the cerebellum
64072	CDH23	HP:0003829	Typified by incomplete penetrance
64072	CDH23	HP:0025383	Dorsocervical fat pad
64072	CDH23	HP:0012041	Decreased fertility in males
64072	CDH23	HP:0000044	Hypogonadotropic hypogonadism
64072	CDH23	HP:0012030	Increased urinary cortisol level
64072	CDH23	HP:0002690	Large sella turcica
64072	CDH23	HP:0000026	Male hypogonadism
64072	CDH23	HP:0001324	Muscle weakness
64072	CDH23	HP:0000007	Autosomal recessive inheritance
64072	CDH23	HP:0001337	Tremor
64072	CDH23	HP:0000006	Autosomal dominant inheritance
64072	CDH23	HP:0002615	Hypotension
64072	CDH23	HP:0012157	Subcortical cerebral atrophy
64072	CDH23	HP:0000141	Amenorrhea
64072	CDH23	HP:0000140	Abnormality of the menstrual cycle
64072	CDH23	HP:0000135	Hypogonadism
64072	CDH23	HP:0031284	Flushing
64072	CDH23	HP:0500011	Moon facies
64072	CDH23	HP:0000134	Female hypogonadism
64072	CDH23	HP:0002721	Immunodeficiency
64072	CDH23	HP:0002017	Nausea and vomiting
64072	CDH23	HP:0002013	Vomiting
64072	CDH23	HP:0002086	Abnormality of the respiratory system
64072	CDH23	HP:0003388	Easy fatigability
64072	CDH23	HP:0011782	Thyroid crisis
64072	CDH23	HP:0011748	Adrenocorticotropic hormone deficiency
64072	CDH23	HP:0011734	Central adrenal insufficiency
64072	CDH23	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency
64072	CDH23	HP:0040270	Impaired glucose tolerance
64072	CDH23	HP:0008153	Periodic hypokalemic paresis
64072	CDH23	HP:0002120	Cerebral cortical atrophy
64072	CDH23	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
64072	CDH23	HP:0008240	Secondary growth hormone deficiency
64072	CDH23	HP:0008245	Pituitary hypothyroidism
64072	CDH23	HP:0008247	Euthyroid hyperthyroxinemia
64072	CDH23	HP:0008221	Adrenal hyperplasia
64072	CDH23	HP:0008291	Pituitary corticotropic cell adenoma
64072	CDH23	HP:0003581	Adult onset
64072	CDH23	HP:0002209	Sparse scalp hair
64072	CDH23	HP:0100753	Schizophrenia
64072	CDH23	HP:0011999	Paranoia
64072	CDH23	HP:0007011	Fourth cranial nerve palsy
64072	CDH23	HP:0001058	Poor wound healing
64072	CDH23	HP:0001050	Plethora
64072	CDH23	HP:0025017	Capillary fragility
64072	CDH23	HP:0001065	Striae distensae
64072	CDH23	HP:0001061	Acne
64072	CDH23	HP:0001007	Hirsutism
64072	CDH23	HP:0002354	Memory impairment
64072	CDH23	HP:0002321	Vertigo
64072	CDH23	HP:0002315	Headache
64072	CDH23	HP:0200042	Skin ulcer
64072	CDH23	HP:0100639	Erectile dysfunction
64072	CDH23	HP:0008499	High hypermetropia
64072	CDH23	HP:0007126	Proximal amyotrophy
64072	CDH23	HP:0010741	Pedal edema
64072	CDH23	HP:0031845	Abnormal libido
64072	CDH23	HP:0030517	Heteronymous hemianopia
64072	CDH23	HP:0030521	Bitemporal hemianopia
64072	CDH23	HP:0006824	Cranial nerve paralysis
64072	CDH23	HP:0031891	Decreased eosinophil count
64072	CDH23	HP:0006897	Abducens palsy
64072	CDH23	HP:0001962	Palpitations
64072	CDH23	HP:0000651	Diplopia
64072	CDH23	HP:0001974	Leukocytosis
64072	CDH23	HP:0000618	Blindness
64072	CDH23	HP:0001956	Truncal obesity
64072	CDH23	HP:0011370	Recurrent cutaneous fungal infections
64072	CDH23	HP:0011362	Abnormal hair quantity
64072	CDH23	HP:0000682	Abnormal dental enamel morphology
64072	CDH23	HP:0000662	Nyctalopia
64072	CDH23	HP:0004324	Increased body weight
64072	CDH23	HP:0004308	Ventricular arrhythmia
64072	CDH23	HP:0000802	Impotence
64072	CDH23	HP:0012743	Abdominal obesity
64072	CDH23	HP:0000771	Gynecomastia
64072	CDH23	HP:0000738	Hallucinations
64072	CDH23	HP:0000739	Anxiety
64072	CDH23	HP:0000716	Depression
64072	CDH23	HP:0000712	Emotional lability
64072	CDH23	HP:0000726	Dementia
64072	CDH23	HP:0000725	Psychotic episodes
64072	CDH23	HP:0000709	Psychosis
64072	CDH23	HP:0000708	Atypical behavior
64072	CDH23	HP:0030588	Abnormal visual field test
64072	CDH23	HP:0000789	Infertility
64072	CDH23	HP:0003118	Increased circulating cortisol level
64072	CDH23	HP:0003154	Increased circulating ACTH level
64072	CDH23	HP:0000876	Oligomenorrhea
64072	CDH23	HP:0000858	Irregular menstruation
64072	CDH23	HP:0000853	Goiter
64072	CDH23	HP:0000870	Increased circulating prolactin concentration
64072	CDH23	HP:0000869	Secondary amenorrhea
64072	CDH23	HP:0000868	Decreased fertility in females
64072	CDH23	HP:0000837	Increased circulating gonadotropin level
64072	CDH23	HP:0000836	Hyperthyroidism
64072	CDH23	HP:0000830	Anterior hypopituitarism
64072	CDH23	HP:0000845	Elevated circulating growth hormone concentration
64072	CDH23	HP:0000819	Diabetes mellitus
64072	CDH23	HP:0000822	Hypertension
64072	CDH23	HP:0000823	Delayed puberty
64072	CDH23	HP:0010284	Intra-oral hyperpigmentation
64072	CDH23	HP:0000980	Pallor
64072	CDH23	HP:0000979	Purpura
64072	CDH23	HP:0000975	Hyperhidrosis
64072	CDH23	HP:0000978	Bruising susceptibility
64072	CDH23	HP:0000953	Hyperpigmentation of the skin
64072	CDH23	HP:0000963	Thin skin
64072	CDH23	HP:0000939	Osteoporosis
64072	CDH23	HP:0000938	Osteopenia
64072	CDH23	HP:0012246	Oculomotor nerve palsy
64072	CDH23	HP:0005115	Supraventricular arrhythmia
64072	CDH23	HP:0007730	Iris hypopigmentation
64072	CDH23	HP:0002893	Pituitary adenoma
64072	CDH23	HP:0030018	Decreased female libido
64072	CDH23	HP:0030016	Dyspareunia
64072	CDH23	HP:0031364	Ecchymosis
64072	CDH23	HP:0007807	Optic nerve compression
64072	CDH23	HP:0000399	Prelingual sensorineural hearing impairment
64072	CDH23	HP:0012378	Fatigue
64072	CDH23	HP:0012377	Hemianopia
64072	CDH23	HP:0030200	Fatiguable weakness of proximal limb muscles
64072	CDH23	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
64072	CDH23	HP:0002920	Decreased circulating ACTH level
64072	CDH23	HP:0002900	Hypokalemia
64072	CDH23	HP:0000365	Hearing impairment
64072	CDH23	HP:0000375	Abnormal cochlea morphology
64072	CDH23	HP:0001698	Pericardial effusion
64072	CDH23	HP:0001658	Myocardial infarction
64072	CDH23	HP:0001626	Abnormality of the cardiovascular system
64072	CDH23	HP:0002953	Vertebral compression fracture
64072	CDH23	HP:0001635	Congestive heart failure
64072	CDH23	HP:0007942	Internal ophthalmoplegia
64072	CDH23	HP:0000407	Sensorineural hearing impairment
64072	CDH23	HP:0031589	Suicidal ideation
64072	CDH23	HP:0001751	Abnormal vestibular function
64072	CDH23	HP:0001756	Vestibular hypofunction
64072	CDH23	HP:0012503	Abnormality of the pituitary gland
64072	CDH23	HP:0012505	Enlarged pituitary gland
64072	CDH23	HP:0000518	Cataract
64072	CDH23	HP:0000510	Rod-cone dystrophy
64072	CDH23	HP:0000512	Abnormal electroretinogram
64072	CDH23	HP:0000529	Progressive visual loss
64072	CDH23	HP:0001824	Weight loss
64072	CDH23	HP:0000508	Ptosis
64072	CDH23	HP:0000575	Scotoma
64072	CDH23	HP:0001888	Lymphopenia
64072	CDH23	HP:0000572	Visual loss
64087	MCCC2	HP:0010911	Hyperleucinemia
64087	MCCC2	HP:0001290	Generalized hypotonia
64087	MCCC2	HP:0001254	Lethargy
64087	MCCC2	HP:0001250	Seizure
64087	MCCC2	HP:0001252	Hypotonia
64087	MCCC2	HP:0001249	Intellectual disability
64087	MCCC2	HP:0001263	Global developmental delay
64087	MCCC2	HP:0001257	Spasticity
64087	MCCC2	HP:0001259	Coma
64087	MCCC2	HP:0001347	Hyperreflexia
64087	MCCC2	HP:0000007	Autosomal recessive inheritance
64087	MCCC2	HP:0003353	Propionyl-CoA carboxylase deficiency
64087	MCCC2	HP:0002013	Vomiting
64087	MCCC2	HP:0002093	Respiratory insufficiency
64087	MCCC2	HP:0002179	Opisthotonus
64087	MCCC2	HP:0008281	Acute hyperammonemia
64087	MCCC2	HP:0003593	Infantile onset
64087	MCCC2	HP:0011968	Feeding difficulties
64087	MCCC2	HP:0001051	Seborrheic dermatitis
64087	MCCC2	HP:0100659	Abnormal cerebral vascular morphology
64087	MCCC2	HP:0003621	Juvenile onset
64087	MCCC2	HP:0001943	Hypoglycemia
64087	MCCC2	HP:0001942	Metabolic acidosis
64087	MCCC2	HP:0001993	Ketoacidosis
64087	MCCC2	HP:0001992	Organic aciduria
64087	MCCC2	HP:0001987	Hyperammonemia
64087	MCCC2	HP:0004357	Abnormal circulating leucine concentration
64087	MCCC2	HP:0100021	Cerebral palsy
64087	MCCC2	HP:0100022	Abnormality of movement
64087	MCCC2	HP:0003108	Hyperglycinuria
64087	MCCC2	HP:0003234	Decreased plasma carnitine
64087	MCCC2	HP:0003202	Skeletal muscle atrophy
64087	MCCC2	HP:0001596	Alopecia
64087	MCCC2	HP:0001531	Failure to thrive in infancy
64087	MCCC2	HP:0001508	Failure to thrive
64087	MCCC2	HP:0002919	Ketonuria
64093	SMOC1	HP:0001172	Abnormal thumb morphology
64093	SMOC1	HP:0001180	Hand oligodactyly
64093	SMOC1	HP:0001162	Postaxial hand polydactyly
64093	SMOC1	HP:0010864	Intellectual disability, severe
64093	SMOC1	HP:0001249	Intellectual disability
64093	SMOC1	HP:0001263	Global developmental delay
64093	SMOC1	HP:0001241	Capitate-hamate fusion
64093	SMOC1	HP:0006101	Finger syndactyly
64093	SMOC1	HP:0001215	Camptodactyly of 2nd-5th fingers
64093	SMOC1	HP:0000085	Horseshoe kidney
64093	SMOC1	HP:0000028	Cryptorchidism
64093	SMOC1	HP:0008897	Postnatal growth retardation
64093	SMOC1	HP:0000007	Autosomal recessive inheritance
64093	SMOC1	HP:0000175	Cleft palate
64093	SMOC1	HP:0007598	Bilateral single transverse palmar creases
64093	SMOC1	HP:0001440	Metatarsal synostosis
64093	SMOC1	HP:0002002	Deep philtrum
64093	SMOC1	HP:0002007	Frontal bossing
64093	SMOC1	HP:0003312	Abnormal form of the vertebral bodies
64093	SMOC1	HP:0005916	Abnormal metacarpal morphology
64093	SMOC1	HP:0002139	Arrhinencephaly
64093	SMOC1	HP:0003577	Congenital onset
64093	SMOC1	HP:0009748	Large earlobe
64093	SMOC1	HP:0010715	2-5 toe syndactyly
64093	SMOC1	HP:0008368	Tarsal synostosis
64093	SMOC1	HP:0010650	Hypoplasia of the premaxilla
64093	SMOC1	HP:0002342	Intellectual disability, moderate
64093	SMOC1	HP:0004209	Clinodactyly of the 5th finger
64093	SMOC1	HP:0000648	Optic atrophy
64093	SMOC1	HP:0011304	Broad thumb
64093	SMOC1	HP:0004322	Short stature
64093	SMOC1	HP:0003038	Fibular hypoplasia
64093	SMOC1	HP:0005692	Joint hyperflexibility
64093	SMOC1	HP:0003042	Elbow dislocation
64093	SMOC1	HP:0003026	Short long bone
64093	SMOC1	HP:0012745	Short palpebral fissure
64093	SMOC1	HP:0012741	Unilateral cryptorchidism
64093	SMOC1	HP:0011478	True anophthalmia
64093	SMOC1	HP:0005736	Short tibia
64093	SMOC1	HP:0005709	2-3 toe cutaneous syndactyly
64093	SMOC1	HP:0003196	Short nose
64093	SMOC1	HP:0005867	4-5 metacarpal synostosis
64093	SMOC1	HP:0000954	Single transverse palmar crease
64093	SMOC1	HP:0000960	Sacral dimple
64093	SMOC1	HP:0100240	Synostosis of joints
64093	SMOC1	HP:0008081	Pes valgus
64093	SMOC1	HP:0011671	Interrupted inferior vena cava with azygous continuation
64093	SMOC1	HP:0000278	Retrognathia
64093	SMOC1	HP:0002817	Abnormality of the upper limb
64093	SMOC1	HP:0002814	Abnormality of the lower limb
64093	SMOC1	HP:0002827	Hip dislocation
64093	SMOC1	HP:0005048	Synostosis of carpal bones
64093	SMOC1	HP:0001572	Macrodontia
64093	SMOC1	HP:0000238	Hydrocephalus
64093	SMOC1	HP:0000218	High palate
64093	SMOC1	HP:0000233	Thin vermilion border
64093	SMOC1	HP:0001522	Death in infancy
64093	SMOC1	HP:0000204	Cleft upper lip
64093	SMOC1	HP:0001508	Failure to thrive
64093	SMOC1	HP:0001510	Growth delay
64093	SMOC1	HP:0006487	Bowing of the long bones
64093	SMOC1	HP:0000358	Posteriorly rotated ears
64093	SMOC1	HP:0000369	Low-set ears
64093	SMOC1	HP:0000368	Low-set, posteriorly rotated ears
64093	SMOC1	HP:0000343	Long philtrum
64093	SMOC1	HP:0000347	Micrognathia
64093	SMOC1	HP:0002982	Tibial bowing
64093	SMOC1	HP:0000327	Hypoplasia of the maxilla
64093	SMOC1	HP:0000499	Abnormal eyelash morphology
64093	SMOC1	HP:0005293	Venous insufficiency
64093	SMOC1	HP:0005280	Depressed nasal bridge
64093	SMOC1	HP:0000494	Downslanted palpebral fissures
64093	SMOC1	HP:0000454	Flared nostrils
64093	SMOC1	HP:0001770	Toe syndactyly
64093	SMOC1	HP:0001762	Talipes equinovarus
64093	SMOC1	HP:0001849	Foot oligodactyly
64093	SMOC1	HP:0000528	Anophthalmia
64093	SMOC1	HP:0001852	Sandal gap
64093	SMOC1	HP:0001830	Postaxial foot polydactyly
64093	SMOC1	HP:0000581	Blepharophimosis
64093	SMOC1	HP:0011220	Prominent forehead
64093	SMOC1	HP:0000568	Microphthalmia
64093	SMOC1	HP:0000534	Abnormal eyebrow morphology
64094	SMOC2	HP:0000007	Autosomal recessive inheritance
64094	SMOC2	HP:0006350	Pulp obliteration
64094	SMOC2	HP:0006336	Short dental root
64094	SMOC2	HP:0006297	Enamel hypoplasia
64094	SMOC2	HP:0000679	Taurodontia
64094	SMOC2	HP:0000677	Oligodontia
64094	SMOC2	HP:0000691	Microdontia
64094	SMOC2	HP:0000700	Periapical bone loss
64116	SLC39A8	HP:0002490	Increased CSF lactate
64116	SLC39A8	HP:0002465	Poor speech
64116	SLC39A8	HP:0002421	Poor head control
64116	SLC39A8	HP:0001272	Cerebellar atrophy
64116	SLC39A8	HP:0001250	Seizure
64116	SLC39A8	HP:0001252	Hypotonia
64116	SLC39A8	HP:0001249	Intellectual disability
64116	SLC39A8	HP:0001263	Global developmental delay
64116	SLC39A8	HP:0002540	Inability to walk
64116	SLC39A8	HP:0002521	Hypsarrhythmia
64116	SLC39A8	HP:0001392	Abnormality of the liver
64116	SLC39A8	HP:0025336	Delayed ability to sit
64116	SLC39A8	HP:0001382	Joint hypermobility
64116	SLC39A8	HP:0001347	Hyperreflexia
64116	SLC39A8	HP:0001363	Craniosynostosis
64116	SLC39A8	HP:0008873	Disproportionate short-limb short stature
64116	SLC39A8	HP:0001332	Dystonia
64116	SLC39A8	HP:0000007	Autosomal recessive inheritance
64116	SLC39A8	HP:0025405	Visual fixation instability
64116	SLC39A8	HP:0002719	Recurrent infections
64116	SLC39A8	HP:0002059	Cerebral atrophy
64116	SLC39A8	HP:0002120	Cerebral cortical atrophy
64116	SLC39A8	HP:0002119	Ventriculomegaly
64116	SLC39A8	HP:0002187	Intellectual disability, profound
64116	SLC39A8	HP:0008277	Abnormal blood zinc concentration
64116	SLC39A8	HP:0003577	Congenital onset
64116	SLC39A8	HP:0032098	Hypomanganesemia
64116	SLC39A8	HP:0008347	Decreased activity of mitochondrial complex IV
64116	SLC39A8	HP:0010621	Cutaneous syndactyly of toes
64116	SLC39A8	HP:0008314	Decreased activity of mitochondrial complex II
64116	SLC39A8	HP:0009826	Limb undergrowth
64116	SLC39A8	HP:0006855	Cerebellar vermis atrophy
64116	SLC39A8	HP:0006829	Severe muscular hypotonia
64116	SLC39A8	HP:0000639	Nystagmus
64116	SLC39A8	HP:0004322	Short stature
64116	SLC39A8	HP:0012736	Profound global developmental delay
64116	SLC39A8	HP:0012707	Elevated brain lactate level by MRS
64116	SLC39A8	HP:0000938	Osteopenia
64116	SLC39A8	HP:0006380	Knee flexion contracture
64116	SLC39A8	HP:0002882	Sudden episodic apnea
64116	SLC39A8	HP:0001531	Failure to thrive in infancy
64116	SLC39A8	HP:0012368	Flat face
64116	SLC39A8	HP:0006558	Decreased mitochondrial complex III activity in liver tissue
64116	SLC39A8	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
64116	SLC39A8	HP:0000365	Hearing impairment
64116	SLC39A8	HP:0000369	Low-set ears
64116	SLC39A8	HP:0012301	Type II transferrin isoform profile
64116	SLC39A8	HP:0002987	Elbow flexion contracture
64116	SLC39A8	HP:0000483	Astigmatism
64116	SLC39A8	HP:0000486	Strabismus
64116	SLC39A8	HP:0000540	Hypermetropia
64127	NOD2	HP:0003774	Stage 5 chronic kidney disease
64127	NOD2	HP:0001101	Iritis
64127	NOD2	HP:0001291	Abnormal cranial nerve morphology
64127	NOD2	HP:0025230	Tendonitis
64127	NOD2	HP:0007432	Intermittent generalized erythematous papular rash
64127	NOD2	HP:0001392	Abnormality of the liver
64127	NOD2	HP:0001376	Limitation of joint mobility
64127	NOD2	HP:0001369	Arthritis
64127	NOD2	HP:0001386	Joint swelling
64127	NOD2	HP:0000006	Autosomal dominant inheritance
64127	NOD2	HP:0000155	Oral ulcer
64127	NOD2	HP:0012123	Posterior uveitis
64127	NOD2	HP:0001426	Multifactorial inheritance
64127	NOD2	HP:0000112	Nephropathy
64127	NOD2	HP:0002716	Lymphadenopathy
64127	NOD2	HP:0002037	Inflammation of the large intestine
64127	NOD2	HP:0002027	Abdominal pain
64127	NOD2	HP:0003326	Myalgia
64127	NOD2	HP:0002014	Diarrhea
64127	NOD2	HP:0002099	Asthma
64127	NOD2	HP:0002094	Dyspnea
64127	NOD2	HP:0002092	Pulmonary arterial hypertension
64127	NOD2	HP:0002102	Pleuritis
64127	NOD2	HP:0100490	Camptodactyly of finger
64127	NOD2	HP:0003565	Elevated erythrocyte sedimentation rate
64127	NOD2	HP:0100769	Synovitis
64127	NOD2	HP:0100749	Chest pain
64127	NOD2	HP:0010628	Facial palsy
64127	NOD2	HP:0100654	Retrobulbar optic neuritis
64127	NOD2	HP:0200034	Papule
64127	NOD2	HP:0001097	Keratoconjunctivitis sicca
64127	NOD2	HP:0001094	Iridocyclitis
64127	NOD2	HP:0200042	Skin ulcer
64127	NOD2	HP:0010783	Erythema
64127	NOD2	HP:0032154	Aphthous ulcer
64127	NOD2	HP:0004942	Aortic aneurysm
64127	NOD2	HP:0000613	Photophobia
64127	NOD2	HP:0001945	Fever
64127	NOD2	HP:0000610	Abnormal choroid morphology
64127	NOD2	HP:0001954	Recurrent fever
64127	NOD2	HP:0001903	Anemia
64127	NOD2	HP:0012647	Abnormal inflammatory response
64127	NOD2	HP:0000787	Nephrolithiasis
64127	NOD2	HP:0005764	Polyarticular arthritis
64127	NOD2	HP:0011505	Cystoid macular edema
64127	NOD2	HP:0000822	Hypertension
64127	NOD2	HP:0010286	Abnormal salivary gland morphology
64127	NOD2	HP:0005830	Flexion contracture of toe
64127	NOD2	HP:0100280	Crohn's disease
64127	NOD2	HP:0100279	Ulcerative colitis
64127	NOD2	HP:0000988	Skin rash
64127	NOD2	HP:0000958	Dry skin
64127	NOD2	HP:0000953	Hyperpigmentation of the skin
64127	NOD2	HP:0000964	Eczema
64127	NOD2	HP:0008064	Ichthyosis
64127	NOD2	HP:0008046	Abnormal retinal vascular morphology
64127	NOD2	HP:0002829	Arthralgia
64127	NOD2	HP:0012219	Erythema nodosum
64127	NOD2	HP:0000217	Xerostomia
64127	NOD2	HP:0001510	Growth delay
64127	NOD2	HP:0007813	Nongranulomatous uveitis
64127	NOD2	HP:0005214	Intestinal obstruction
64127	NOD2	HP:0005310	Large vessel vasculitis
64127	NOD2	HP:0001701	Pericarditis
64127	NOD2	HP:0001714	Ventricular hypertrophy
64127	NOD2	HP:0000491	Keratitis
64127	NOD2	HP:0000488	Retinopathy
64127	NOD2	HP:0011123	Inflammatory abnormality of the skin
64127	NOD2	HP:0011107	Recurrent aphthous stomatitis
64127	NOD2	HP:0001744	Splenomegaly
64127	NOD2	HP:0006770	Clear cell renal cell carcinoma
64127	NOD2	HP:0000518	Cataract
64127	NOD2	HP:0001824	Weight loss
64127	NOD2	HP:0000501	Glaucoma
64127	NOD2	HP:0000598	Abnormality of the ear
64127	NOD2	HP:0000585	Band keratopathy
64127	NOD2	HP:0000587	Abnormal optic nerve morphology
64127	NOD2	HP:0000554	Uveitis
64127	NOD2	HP:0000572	Visual loss
64131	XYLT1	HP:0025115	Civatte bodies
64131	XYLT1	HP:0001102	Angioid streaks of the fundus
64131	XYLT1	HP:0001297	Stroke
64131	XYLT1	HP:0100817	Renovascular hypertension
64131	XYLT1	HP:0001252	Hypotonia
64131	XYLT1	HP:0001249	Intellectual disability
64131	XYLT1	HP:0001263	Global developmental delay
64131	XYLT1	HP:0100864	Short femoral neck
64131	XYLT1	HP:0001373	Joint dislocation
64131	XYLT1	HP:0001388	Joint laxity
64131	XYLT1	HP:0008897	Postnatal growth retardation
64131	XYLT1	HP:0008873	Disproportionate short-limb short stature
64131	XYLT1	HP:0002656	Epiphyseal dysplasia
64131	XYLT1	HP:0002673	Coxa valga
64131	XYLT1	HP:0000007	Autosomal recessive inheritance
64131	XYLT1	HP:0002650	Scoliosis
64131	XYLT1	HP:0002643	Neonatal respiratory distress
64131	XYLT1	HP:0000193	Bifid uvula
64131	XYLT1	HP:0000175	Cleft palate
64131	XYLT1	HP:0007663	Reduced visual acuity
64131	XYLT1	HP:0500011	Moon facies
64131	XYLT1	HP:0032553	Weak pulse
64131	XYLT1	HP:0003366	Abnormal femoral neck/head morphology
64131	XYLT1	HP:0033102	Monkey wrench femoral neck
64131	XYLT1	HP:0100490	Camptodactyly of finger
64131	XYLT1	HP:0002240	Hepatomegaly
64131	XYLT1	HP:0002239	Gastrointestinal hemorrhage
64131	XYLT1	HP:0003510	Severe short stature
64131	XYLT1	HP:0001061	Acne
64131	XYLT1	HP:0001027	Soft, doughy skin
64131	XYLT1	HP:0002342	Intellectual disability, moderate
64131	XYLT1	HP:0001007	Hirsutism
64131	XYLT1	HP:0004976	Knee dislocation
64131	XYLT1	HP:0009803	Short phalanx of finger
64131	XYLT1	HP:0200055	Small hand
64131	XYLT1	HP:0004943	Accelerated atherosclerosis
64131	XYLT1	HP:0004209	Clinodactyly of the 5th finger
64131	XYLT1	HP:0004233	Advanced ossification of carpal bones
64131	XYLT1	HP:0001956	Truncal obesity
64131	XYLT1	HP:0000608	Macular degeneration
64131	XYLT1	HP:0010049	Short metacarpal
64131	XYLT1	HP:0000678	Dental crowding
64131	XYLT1	HP:0011304	Broad thumb
64131	XYLT1	HP:0000668	Hypodontia
64131	XYLT1	HP:0000664	Synophrys
64131	XYLT1	HP:0004322	Short stature
64131	XYLT1	HP:0005616	Accelerated skeletal maturation
64131	XYLT1	HP:0005692	Joint hyperflexibility
64131	XYLT1	HP:0003048	Radial head subluxation
64131	XYLT1	HP:0003042	Elbow dislocation
64131	XYLT1	HP:0003015	Flared metaphysis
64131	XYLT1	HP:0003016	Metaphyseal widening
64131	XYLT1	HP:0003026	Short long bone
64131	XYLT1	HP:0031936	Delayed ability to walk
64131	XYLT1	HP:0000767	Pectus excavatum
64131	XYLT1	HP:0000768	Pectus carinatum
64131	XYLT1	HP:0012725	Cutaneous syndactyly
64131	XYLT1	HP:0000750	Delayed speech and language development
64131	XYLT1	HP:0011461	Fetal onset
64131	XYLT1	HP:0000774	Narrow chest
64131	XYLT1	HP:0004417	Intermittent claudication
64131	XYLT1	HP:0000926	Platyspondyly
64131	XYLT1	HP:0003180	Flat acetabular roof
64131	XYLT1	HP:0004482	Relative macrocephaly
64131	XYLT1	HP:0000885	Broad ribs
64131	XYLT1	HP:0011506	Choroidal neovascularization
64131	XYLT1	HP:0000822	Hypertension
64131	XYLT1	HP:0000894	Short clavicles
64131	XYLT1	HP:0045051	Decreased DLCO
64131	XYLT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
64131	XYLT1	HP:0000973	Cutis laxa
64131	XYLT1	HP:0000954	Single transverse palmar crease
64131	XYLT1	HP:0033026	White oral mucosal macule
64131	XYLT1	HP:0033027	Retinal peau d'orange
64131	XYLT1	HP:0000944	Abnormal metaphysis morphology
64131	XYLT1	HP:0008070	Sparse hair
64131	XYLT1	HP:0000286	Epicanthus
64131	XYLT1	HP:0000280	Coarse facial features
64131	XYLT1	HP:0001591	Bell-shaped thorax
64131	XYLT1	HP:0002816	Genu recurvatum
64131	XYLT1	HP:0002812	Coxa vara
64131	XYLT1	HP:0002827	Hip dislocation
64131	XYLT1	HP:0030084	Clinodactyly
64131	XYLT1	HP:0000252	Microcephaly
64131	XYLT1	HP:0025507	Yellow papule
64131	XYLT1	HP:0001511	Intrauterine growth retardation
64131	XYLT1	HP:0001510	Growth delay
64131	XYLT1	HP:0012368	Flat face
64131	XYLT1	HP:0002938	Lumbar hyperlordosis
64131	XYLT1	HP:0000368	Low-set, posteriorly rotated ears
64131	XYLT1	HP:0000343	Long philtrum
64131	XYLT1	HP:0002999	Patellar dislocation
64131	XYLT1	HP:0001681	Angina pectoris
64131	XYLT1	HP:0001677	Coronary artery atherosclerosis
64131	XYLT1	HP:0000311	Round face
64131	XYLT1	HP:0002974	Radioulnar synostosis
64131	XYLT1	HP:0001629	Ventricular septal defect
64131	XYLT1	HP:0002970	Genu varum
64131	XYLT1	HP:0001635	Congestive heart failure
64131	XYLT1	HP:0001634	Mitral valve prolapse
64131	XYLT1	HP:0000499	Abnormal eyelash morphology
64131	XYLT1	HP:0001723	Restrictive cardiomyopathy
64131	XYLT1	HP:0001718	Mitral stenosis
64131	XYLT1	HP:0005280	Depressed nasal bridge
64131	XYLT1	HP:0012471	Thick vermilion border
64131	XYLT1	HP:0000463	Anteverted nares
64131	XYLT1	HP:0000470	Short neck
64131	XYLT1	HP:0012426	Optic disc drusen
64131	XYLT1	HP:0001769	Broad foot
64131	XYLT1	HP:0001763	Pes planus
64131	XYLT1	HP:0000520	Proptosis
64131	XYLT1	HP:0000505	Visual impairment
64131	XYLT1	HP:0000501	Glaucoma
64131	XYLT1	HP:0000592	Blue sclerae
64131	XYLT1	HP:0000573	Retinal hemorrhage
64131	XYLT1	HP:0001863	Toe clinodactyly
64131	XYLT1	HP:0000545	Myopia
64132	XYLT2	HP:0001166	Arachnodactyly
64132	XYLT2	HP:0025115	Civatte bodies
64132	XYLT2	HP:0001102	Angioid streaks of the fundus
64132	XYLT2	HP:0001297	Stroke
64132	XYLT2	HP:0100807	Long fingers
64132	XYLT2	HP:0100817	Renovascular hypertension
64132	XYLT2	HP:0001249	Intellectual disability
64132	XYLT2	HP:0002588	Duodenal ulcer
64132	XYLT2	HP:0001324	Muscle weakness
64132	XYLT2	HP:0000007	Autosomal recessive inheritance
64132	XYLT2	HP:0000164	Abnormality of the dentition
64132	XYLT2	HP:0007663	Reduced visual acuity
64132	XYLT2	HP:0002753	Thin bony cortex
64132	XYLT2	HP:0032553	Weak pulse
64132	XYLT2	HP:0002162	Low posterior hairline
64132	XYLT2	HP:0010511	Long toe
64132	XYLT2	HP:0003577	Congenital onset
64132	XYLT2	HP:0002239	Gastrointestinal hemorrhage
64132	XYLT2	HP:0009738	Abnormal antihelix morphology
64132	XYLT2	HP:0003521	Disproportionate short-trunk short stature
64132	XYLT2	HP:0001004	Lymphedema
64132	XYLT2	HP:0002317	Unsteady gait
64132	XYLT2	HP:0004943	Accelerated atherosclerosis
64132	XYLT2	HP:0031846	Femur fracture
64132	XYLT2	HP:0000639	Nystagmus
64132	XYLT2	HP:0000646	Amblyopia
64132	XYLT2	HP:0000608	Macular degeneration
64132	XYLT2	HP:0004325	Decreased body weight
64132	XYLT2	HP:0004322	Short stature
64132	XYLT2	HP:0005692	Joint hyperflexibility
64132	XYLT2	HP:0012741	Unilateral cryptorchidism
64132	XYLT2	HP:0000768	Pectus carinatum
64132	XYLT2	HP:0004417	Intermittent claudication
64132	XYLT2	HP:0000914	Shield chest
64132	XYLT2	HP:0000926	Platyspondyly
64132	XYLT2	HP:0004467	Preauricular pit
64132	XYLT2	HP:0011506	Choroidal neovascularization
64132	XYLT2	HP:0000822	Hypertension
64132	XYLT2	HP:0045051	Decreased DLCO
64132	XYLT2	HP:0000974	Hyperextensible skin
64132	XYLT2	HP:0000973	Cutis laxa
64132	XYLT2	HP:0033026	White oral mucosal macule
64132	XYLT2	HP:0033027	Retinal peau d'orange
64132	XYLT2	HP:0000939	Osteoporosis
64132	XYLT2	HP:0000938	Osteopenia
64132	XYLT2	HP:0008063	Aplasia/Hypoplasia of the lens
64132	XYLT2	HP:0000297	Facial hypotonia
64132	XYLT2	HP:0007787	Posterior subcapsular cataract
64132	XYLT2	HP:0005108	Abnormal intervertebral disk morphology
64132	XYLT2	HP:0007730	Iris hypopigmentation
64132	XYLT2	HP:0000233	Thin vermilion border
64132	XYLT2	HP:0025507	Yellow papule
64132	XYLT2	HP:0000391	Thickened helices
64132	XYLT2	HP:0002942	Thoracic kyphosis
64132	XYLT2	HP:0005176	Dysplastic aortic valve
64132	XYLT2	HP:0000358	Posteriorly rotated ears
64132	XYLT2	HP:0000369	Low-set ears
64132	XYLT2	HP:0000343	Long philtrum
64132	XYLT2	HP:0001681	Angina pectoris
64132	XYLT2	HP:0001677	Coronary artery atherosclerosis
64132	XYLT2	HP:0000316	Hypertelorism
64132	XYLT2	HP:0001629	Ventricular septal defect
64132	XYLT2	HP:0002953	Vertebral compression fracture
64132	XYLT2	HP:0001635	Congestive heart failure
64132	XYLT2	HP:0001631	Atrial septal defect
64132	XYLT2	HP:0001634	Mitral valve prolapse
64132	XYLT2	HP:0001723	Restrictive cardiomyopathy
64132	XYLT2	HP:0000407	Sensorineural hearing impairment
64132	XYLT2	HP:0001718	Mitral stenosis
64132	XYLT2	HP:0000470	Short neck
64132	XYLT2	HP:0000465	Webbed neck
64132	XYLT2	HP:0012426	Optic disc drusen
64132	XYLT2	HP:0001763	Pes planus
64132	XYLT2	HP:0000518	Cataract
64132	XYLT2	HP:0001845	Overlapping toe
64132	XYLT2	HP:0000505	Visual impairment
64132	XYLT2	HP:0000591	Abnormal sclera morphology
64132	XYLT2	HP:0000572	Visual loss
64132	XYLT2	HP:0000573	Retinal hemorrhage
64132	XYLT2	HP:0000568	Microphthalmia
64132	XYLT2	HP:0000541	Retinal detachment
64132	XYLT2	HP:0000534	Abnormal eyebrow morphology
64132	XYLT2	HP:0000545	Myopia
64135	IFIH1	HP:0002445	Tetraplegia
64135	IFIH1	HP:0025179	Ground-glass opacification
64135	IFIH1	HP:0007256	Abnormal pyramidal sign
64135	IFIH1	HP:0009890	High anterior hairline
64135	IFIH1	HP:0032297	Increased circulating IgG3 level
64135	IFIH1	HP:0007229	Intracerebral periventricular calcifications
64135	IFIH1	HP:0002421	Poor head control
64135	IFIH1	HP:0002415	Leukodystrophy
64135	IFIH1	HP:0001290	Generalized hypotonia
64135	IFIH1	HP:0001276	Hypertonia
64135	IFIH1	HP:0001272	Cerebellar atrophy
64135	IFIH1	HP:0001285	Spastic tetraparesis
64135	IFIH1	HP:0002582	Atrophic gastritis
64135	IFIH1	HP:0001250	Seizure
64135	IFIH1	HP:0001252	Hypotonia
64135	IFIH1	HP:0001249	Intellectual disability
64135	IFIH1	HP:0001263	Global developmental delay
64135	IFIH1	HP:0001257	Spasticity
64135	IFIH1	HP:0002573	Hematochezia
64135	IFIH1	HP:0006112	Expanded phalanges with widened medullary cavities
64135	IFIH1	HP:0002515	Waddling gait
64135	IFIH1	HP:0002514	Cerebral calcification
64135	IFIH1	HP:0003829	Typified by incomplete penetrance
64135	IFIH1	HP:0002510	Spastic tetraplegia
64135	IFIH1	HP:0002509	Limb hypertonia
64135	IFIH1	HP:0001397	Hepatic steatosis
64135	IFIH1	HP:0001369	Arthritis
64135	IFIH1	HP:0000054	Micropenis
64135	IFIH1	HP:0002684	Thickened calvaria
64135	IFIH1	HP:0001357	Plagiocephaly
64135	IFIH1	HP:0006232	Expanded metacarpals with widened medullary cavities
64135	IFIH1	HP:0001332	Dystonia
64135	IFIH1	HP:0001324	Muscle weakness
64135	IFIH1	HP:0001344	Absent speech
64135	IFIH1	HP:0002673	Coxa valga
64135	IFIH1	HP:0000007	Autosomal recessive inheritance
64135	IFIH1	HP:0001337	Tremor
64135	IFIH1	HP:0000006	Autosomal dominant inheritance
64135	IFIH1	HP:0002633	Vasculitis
64135	IFIH1	HP:0002650	Scoliosis
64135	IFIH1	HP:0012115	Hepatitis
64135	IFIH1	HP:0006353	Hypoplasia of the tooth germ
64135	IFIH1	HP:0006336	Short dental root
64135	IFIH1	HP:0008936	Axial hypotonia
64135	IFIH1	HP:0008940	Generalized lymphadenopathy
64135	IFIH1	HP:0002783	Recurrent lower respiratory tract infections
64135	IFIH1	HP:0000100	Nephrotic syndrome
64135	IFIH1	HP:0001433	Hepatosplenomegaly
64135	IFIH1	HP:0002014	Diarrhea
64135	IFIH1	HP:0100550	Tendon rupture
64135	IFIH1	HP:0002098	Respiratory distress
64135	IFIH1	HP:0002090	Pneumonia
64135	IFIH1	HP:0002061	Lower limb spasticity
64135	IFIH1	HP:0002079	Hypoplasia of the corpus callosum
64135	IFIH1	HP:0002071	Abnormality of extrapyramidal motor function
64135	IFIH1	HP:0002059	Cerebral atrophy
64135	IFIH1	HP:0008102	Expanded metatarsals with widened medullary cavities
64135	IFIH1	HP:0100578	Lipoatrophy
64135	IFIH1	HP:0033166	Recurrent viral upper respiratory tract infections
64135	IFIH1	HP:0002139	Arrhinencephaly
64135	IFIH1	HP:0002119	Ventriculomegaly
64135	IFIH1	HP:0002135	Basal ganglia calcification
64135	IFIH1	HP:0002132	Porencephalic cyst
64135	IFIH1	HP:0002187	Intellectual disability, profound
64135	IFIH1	HP:0033214	Recurrent viral pneumonia
64135	IFIH1	HP:0011834	Moyamoya phenomenon
64135	IFIH1	HP:0003593	Infantile onset
64135	IFIH1	HP:0002273	Tetraparesis
64135	IFIH1	HP:0003577	Congenital onset
64135	IFIH1	HP:0002240	Hepatomegaly
64135	IFIH1	HP:0002248	Hematemesis
64135	IFIH1	HP:0003552	Muscle stiffness
64135	IFIH1	HP:0002202	Pleural effusion
64135	IFIH1	HP:0002205	Recurrent respiratory infections
64135	IFIH1	HP:0010702	Increased circulating antibody level
64135	IFIH1	HP:0009709	Increased CSF interferon alpha
64135	IFIH1	HP:0009710	Chilblains
64135	IFIH1	HP:0009704	Chronic CSF lymphocytosis
64135	IFIH1	HP:0011968	Feeding difficulties
64135	IFIH1	HP:0004809	Neonatal alloimmune thrombocytopenia
64135	IFIH1	HP:0007076	Extrapyramidal muscular rigidity
64135	IFIH1	HP:0007052	Multifocal cerebral white matter abnormalities
64135	IFIH1	HP:0001063	Acrocyanosis
64135	IFIH1	HP:0001047	Atopic dermatitis
64135	IFIH1	HP:0002376	Developmental regression
64135	IFIH1	HP:0002371	Loss of speech
64135	IFIH1	HP:0002355	Difficulty walking
64135	IFIH1	HP:0001025	Urticaria
64135	IFIH1	HP:0002315	Headache
64135	IFIH1	HP:0002313	Spastic paraparesis
64135	IFIH1	HP:0025085	Bloody diarrhea
64135	IFIH1	HP:0100614	Myositis
64135	IFIH1	HP:0001087	Developmental glaucoma
64135	IFIH1	HP:0032137	Decreased circulating IgG3 level
64135	IFIH1	HP:0032153	Joint subluxation
64135	IFIH1	HP:0009771	Osteolytic defects of the phalanges of the hand
64135	IFIH1	HP:0007108	Demyelinating peripheral neuropathy
64135	IFIH1	HP:0004963	Calcification of the aorta
64135	IFIH1	HP:0003623	Neonatal onset
64135	IFIH1	HP:0003621	Juvenile onset
64135	IFIH1	HP:0004942	Aortic aneurysm
64135	IFIH1	HP:0005550	Chronic lymphatic leukemia
64135	IFIH1	HP:0000639	Nystagmus
64135	IFIH1	HP:0001945	Fever
64135	IFIH1	HP:0001955	Unexplained fevers
64135	IFIH1	HP:0001954	Recurrent fever
64135	IFIH1	HP:0000625	Eyelid coloboma
64135	IFIH1	HP:0001903	Anemia
64135	IFIH1	HP:0000670	Carious teeth
64135	IFIH1	HP:0004325	Decreased body weight
64135	IFIH1	HP:0004322	Short stature
64135	IFIH1	HP:0004382	Mitral valve calcification
64135	IFIH1	HP:0004380	Aortic valve calcification
64135	IFIH1	HP:0004374	Hemiplegia/hemiparesis
64135	IFIH1	HP:0000737	Irritability
64135	IFIH1	HP:0000706	Eruption failure
64135	IFIH1	HP:0011463	Childhood onset
64135	IFIH1	HP:0011462	Young adult onset
64135	IFIH1	HP:0011461	Fetal onset
64135	IFIH1	HP:0011451	Primary microcephaly
64135	IFIH1	HP:0003182	Shallow acetabular fossae
64135	IFIH1	HP:0000819	Diabetes mellitus
64135	IFIH1	HP:0000822	Hypertension
64135	IFIH1	HP:0000821	Hypothyroidism
64135	IFIH1	HP:0030880	Raynaud phenomenon
64135	IFIH1	HP:0003281	Increased circulating ferritin concentration
64135	IFIH1	HP:0000992	Cutaneous photosensitivity
64135	IFIH1	HP:0000988	Skin rash
64135	IFIH1	HP:0000958	Dry skin
64135	IFIH1	HP:0000969	Edema
64135	IFIH1	HP:0000965	Cutis marmorata
64135	IFIH1	HP:0000939	Osteoporosis
64135	IFIH1	HP:0000938	Osteopenia
64135	IFIH1	HP:0040140	Degeneration of the striatum
64135	IFIH1	HP:0100295	Muscle fiber atrophy
64135	IFIH1	HP:0002827	Hip dislocation
64135	IFIH1	HP:0002828	Multiple joint contractures
64135	IFIH1	HP:0006386	Hypoplastic distal radial epiphyses
64135	IFIH1	HP:0000252	Microcephaly
64135	IFIH1	HP:0000219	Thin upper lip vermilion
64135	IFIH1	HP:0002878	Respiratory failure
64135	IFIH1	HP:0001562	Oligohydramnios
64135	IFIH1	HP:0002857	Genu valgum
64135	IFIH1	HP:0030038	Enchondroma
64135	IFIH1	HP:0030043	Hip subluxation
64135	IFIH1	HP:0001511	Intrauterine growth retardation
64135	IFIH1	HP:0006579	Prolonged neonatal jaundice
64135	IFIH1	HP:0001609	Hoarse voice
64135	IFIH1	HP:0002910	Elevated hepatic transaminase
64135	IFIH1	HP:0001698	Pericardial effusion
64135	IFIH1	HP:0000369	Low-set ears
64135	IFIH1	HP:0000337	Broad forehead
64135	IFIH1	HP:0001682	Subvalvular aortic stenosis
64135	IFIH1	HP:0001650	Aortic valve stenosis
64135	IFIH1	HP:0000319	Smooth philtrum
64135	IFIH1	HP:0000327	Hypoplasia of the maxilla
64135	IFIH1	HP:0002960	Autoimmunity
64135	IFIH1	HP:0001640	Cardiomegaly
64135	IFIH1	HP:0001639	Hypertrophic cardiomyopathy
64135	IFIH1	HP:0001635	Congestive heart failure
64135	IFIH1	HP:0005303	Aortic arch calcification
64135	IFIH1	HP:0012490	Panniculitis
64135	IFIH1	HP:0000496	Abnormality of eye movement
64135	IFIH1	HP:0012448	Delayed myelination
64135	IFIH1	HP:0012444	Brain atrophy
64135	IFIH1	HP:0000444	Convex nasal ridge
64135	IFIH1	HP:0001744	Splenomegaly
64135	IFIH1	HP:0001762	Talipes equinovarus
64135	IFIH1	HP:0001761	Pes cavus
64135	IFIH1	HP:0001824	Weight loss
64135	IFIH1	HP:0000508	Ptosis
64135	IFIH1	HP:0000501	Glaucoma
64135	IFIH1	HP:0001806	Onycholysis
64135	IFIH1	HP:0030356	Increased circulating interferon-gamma concentration
64135	IFIH1	HP:0001888	Lymphopenia
64135	IFIH1	HP:0001878	Hemolytic anemia
64135	IFIH1	HP:0001873	Thrombocytopenia
64135	IFIH1	HP:0001876	Pancytopenia
64135	IFIH1	HP:0000545	Myopia
64170	CARD9	HP:0032259	Chronic tinea infection
64170	CARD9	HP:0001287	Meningitis
64170	CARD9	HP:0010975	Abnormal B cell count
64170	CARD9	HP:0000007	Autosomal recessive inheritance
64170	CARD9	HP:0032515	Deep dermatophytosis
64170	CARD9	HP:0002716	Lymphadenopathy
64170	CARD9	HP:0002721	Immunodeficiency
64170	CARD9	HP:0040303	Decreased serum iron
64170	CARD9	HP:0032061	Hypereosinophilia
64170	CARD9	HP:0003621	Juvenile onset
64170	CARD9	HP:0009098	Chronic oral candidiasis
64170	CARD9	HP:0011463	Childhood onset
64170	CARD9	HP:0040089	Abnormal natural killer cell count
64170	CARD9	HP:0003212	Increased circulating IgE level
64170	CARD9	HP:0031392	Abnormal proportion of CD4-positive T cells
64170	CARD9	HP:0031393	Abnormal proportion of CD8-positive T cells
64170	CARD9	HP:0012203	Onychomycosis
64170	CARD9	HP:0025708	Early young adult onset
64170	CARD9	HP:0001871	Abnormality of blood and blood-forming tissues
64175	P3H1	HP:0003784	Type 1 collagen overmodification
64175	P3H1	HP:0001263	Global developmental delay
64175	P3H1	HP:0001388	Joint laxity
64175	P3H1	HP:0000023	Inguinal hernia
64175	P3H1	HP:0008873	Disproportionate short-limb short stature
64175	P3H1	HP:0008796	Femoral retroversion
64175	P3H1	HP:0000007	Autosomal recessive inheritance
64175	P3H1	HP:0002650	Scoliosis
64175	P3H1	HP:0002645	Wormian bones
64175	P3H1	HP:0002757	Recurrent fractures
64175	P3H1	HP:0010049	Short metacarpal
64175	P3H1	HP:0004331	Decreased skull ossification
64175	P3H1	HP:0000703	Dentinogenesis imperfecta
64175	P3H1	HP:0011461	Fetal onset
64175	P3H1	HP:0003100	Slender long bone
64175	P3H1	HP:0000926	Platyspondyly
64175	P3H1	HP:0000883	Thin ribs
64175	P3H1	HP:0005855	Multiple prenatal fractures
64175	P3H1	HP:0000938	Osteopenia
64175	P3H1	HP:0000260	Wide anterior fontanel
64175	P3H1	HP:0002808	Kyphosis
64175	P3H1	HP:0001552	Barrel-shaped chest
64175	P3H1	HP:0002982	Tibial bowing
64175	P3H1	HP:0002980	Femoral bowing
64175	P3H1	HP:0000311	Round face
64175	P3H1	HP:0002986	Radial bowing
64175	P3H1	HP:0002953	Vertebral compression fracture
64175	P3H1	HP:0005474	Decreased calvarial ossification
64175	P3H1	HP:0000520	Proptosis
64207	IRF2BPL	HP:0002403	Positive Romberg sign
64207	IRF2BPL	HP:0001272	Cerebellar atrophy
64207	IRF2BPL	HP:0001250	Seizure
64207	IRF2BPL	HP:0001252	Hypotonia
64207	IRF2BPL	HP:0001251	Ataxia
64207	IRF2BPL	HP:0001249	Intellectual disability
64207	IRF2BPL	HP:0001266	Choreoathetosis
64207	IRF2BPL	HP:0001260	Dysarthria
64207	IRF2BPL	HP:0001263	Global developmental delay
64207	IRF2BPL	HP:0001257	Spasticity
64207	IRF2BPL	HP:0007371	Corpus callosum atrophy
64207	IRF2BPL	HP:0002505	Loss of ambulation
64207	IRF2BPL	HP:0001347	Hyperreflexia
64207	IRF2BPL	HP:0001332	Dystonia
64207	IRF2BPL	HP:0001344	Absent speech
64207	IRF2BPL	HP:0000006	Autosomal dominant inheritance
64207	IRF2BPL	HP:0001310	Dysmetria
64207	IRF2BPL	HP:0002015	Dysphagia
64207	IRF2BPL	HP:0002059	Cerebral atrophy
64207	IRF2BPL	HP:0003487	Babinski sign
64207	IRF2BPL	HP:0003593	Infantile onset
64207	IRF2BPL	HP:0002376	Developmental regression
64207	IRF2BPL	HP:0002371	Loss of speech
64207	IRF2BPL	HP:0003676	Progressive
64207	IRF2BPL	HP:0003621	Juvenile onset
64207	IRF2BPL	HP:0000639	Nystagmus
64207	IRF2BPL	HP:0011463	Childhood onset
64207	IRF2BPL	HP:0030319	Weakness of facial musculature
64207	IRF2BPL	HP:0000565	Esotropia
64208	POPDC3	HP:0003701	Proximal muscle weakness
64208	POPDC3	HP:0003713	Muscle fiber necrosis
64208	POPDC3	HP:0002527	Falls
64208	POPDC3	HP:0000007	Autosomal recessive inheritance
64208	POPDC3	HP:0008994	Proximal muscle weakness in lower limbs
64208	POPDC3	HP:0008981	Calf muscle hypertrophy
64208	POPDC3	HP:0003557	Increased variability in muscle fiber diameter
64208	POPDC3	HP:0009046	Difficulty running
64208	POPDC3	HP:0030234	Highly elevated creatine kinase
64208	POPDC3	HP:0012548	Fatty replacement of skeletal muscle
64218	SEMA4A	HP:0001123	Visual field defect
64218	SEMA4A	HP:0009926	Epiphora
64218	SEMA4A	HP:0007256	Abnormal pyramidal sign
64218	SEMA4A	HP:0001276	Hypertonia
64218	SEMA4A	HP:0001288	Gait disturbance
64218	SEMA4A	HP:0100835	Benign neoplasm of the central nervous system
64218	SEMA4A	HP:0001250	Seizure
64218	SEMA4A	HP:0001252	Hypotonia
64218	SEMA4A	HP:0001249	Intellectual disability
64218	SEMA4A	HP:0001260	Dysarthria
64218	SEMA4A	HP:0008736	Hypoplasia of penis
64218	SEMA4A	HP:0002516	Increased intracranial pressure
64218	SEMA4A	HP:0001371	Flexion contracture
64218	SEMA4A	HP:0001347	Hyperreflexia
64218	SEMA4A	HP:0000035	Abnormal testis morphology
64218	SEMA4A	HP:0002671	Basal cell carcinoma
64218	SEMA4A	HP:0000007	Autosomal recessive inheritance
64218	SEMA4A	HP:0000006	Autosomal dominant inheritance
64218	SEMA4A	HP:0012174	Glioblastoma multiforme
64218	SEMA4A	HP:0012126	Stomach cancer
64218	SEMA4A	HP:0000135	Hypogonadism
64218	SEMA4A	HP:0007675	Progressive night blindness
64218	SEMA4A	HP:0012113	Abnormal circulating creatine concentration
64218	SEMA4A	HP:0001402	Hepatocellular carcinoma
64218	SEMA4A	HP:0002024	Malabsorption
64218	SEMA4A	HP:0002019	Constipation
64218	SEMA4A	HP:0002017	Nausea and vomiting
64218	SEMA4A	HP:0002027	Abdominal pain
64218	SEMA4A	HP:0005978	Type II diabetes mellitus
64218	SEMA4A	HP:0002076	Migraine
64218	SEMA4A	HP:0100571	Cardiac diverticulum
64218	SEMA4A	HP:0100576	Amaurosis fugax
64218	SEMA4A	HP:0002167	Abnormality of speech or vocalization
64218	SEMA4A	HP:0010526	Dysgraphia
64218	SEMA4A	HP:0010524	Agnosia
64218	SEMA4A	HP:0003401	Paresthesia
64218	SEMA4A	HP:0002239	Gastrointestinal hemorrhage
64218	SEMA4A	HP:0009726	Renal neoplasm
64218	SEMA4A	HP:0100743	Neoplasm of the rectum
64218	SEMA4A	HP:0007018	Attention deficit hyperactivity disorder
64218	SEMA4A	HP:0010622	Neoplasm of the skeletal system
64218	SEMA4A	HP:0002376	Developmental regression
64218	SEMA4A	HP:0002354	Memory impairment
64218	SEMA4A	HP:0001000	Abnormality of skin pigmentation
64218	SEMA4A	HP:0100660	Dyskinesia
64218	SEMA4A	HP:0100615	Ovarian neoplasm
64218	SEMA4A	HP:0010786	Urinary tract neoplasm
64218	SEMA4A	HP:0010784	Uterine neoplasm
64218	SEMA4A	HP:0000639	Nystagmus
64218	SEMA4A	HP:0000648	Optic atrophy
64218	SEMA4A	HP:0000618	Blindness
64218	SEMA4A	HP:0000613	Photophobia
64218	SEMA4A	HP:0000608	Macular degeneration
64218	SEMA4A	HP:0000602	Ophthalmoplegia
64218	SEMA4A	HP:0000662	Nyctalopia
64218	SEMA4A	HP:0004374	Hemiplegia/hemiparesis
64218	SEMA4A	HP:0003006	Neuroblastoma
64218	SEMA4A	HP:0100013	Neoplasm of the breast
64218	SEMA4A	HP:0100031	Neoplasm of the thyroid gland
64218	SEMA4A	HP:0000738	Hallucinations
64218	SEMA4A	HP:0000737	Irritability
64218	SEMA4A	HP:0000739	Anxiety
64218	SEMA4A	HP:0000716	Depression
64218	SEMA4A	HP:0000708	Atypical behavior
64218	SEMA4A	HP:0000842	Hyperinsulinemia
64218	SEMA4A	HP:0100273	Neoplasm of the colon
64218	SEMA4A	HP:0000987	Atypical scarring of skin
64218	SEMA4A	HP:0008046	Abnormal retinal vascular morphology
64218	SEMA4A	HP:0007703	Abnormality of retinal pigmentation
64218	SEMA4A	HP:0007737	Bone spicule pigmentation of the retina
64218	SEMA4A	HP:0002894	Neoplasm of the pancreas
64218	SEMA4A	HP:0002893	Pituitary adenoma
64218	SEMA4A	HP:0001513	Obesity
64218	SEMA4A	HP:0007843	Attenuation of retinal blood vessels
64218	SEMA4A	HP:0012378	Fatigue
64218	SEMA4A	HP:0007994	Peripheral visual field loss
64218	SEMA4A	HP:0000407	Sensorineural hearing impairment
64218	SEMA4A	HP:0000405	Conductive hearing impairment
64218	SEMA4A	HP:0000463	Anteverted nares
64218	SEMA4A	HP:0000431	Wide nasal bridge
64218	SEMA4A	HP:0006725	Pancreatic adenocarcinoma
64218	SEMA4A	HP:0000518	Cataract
64218	SEMA4A	HP:0000510	Rod-cone dystrophy
64218	SEMA4A	HP:0000512	Abnormal electroretinogram
64218	SEMA4A	HP:0000529	Progressive visual loss
64218	SEMA4A	HP:0001824	Weight loss
64218	SEMA4A	HP:0000505	Visual impairment
64218	SEMA4A	HP:0000501	Glaucoma
64218	SEMA4A	HP:0000563	Keratoconus
64218	SEMA4A	HP:0000551	Color vision defect
64218	SEMA4A	HP:0000548	Cone/cone-rod dystrophy
64220	STRA6	HP:0001290	Generalized hypotonia
64220	STRA6	HP:0100800	Aplasia/Hypoplasia of the pancreas
64220	STRA6	HP:0001252	Hypotonia
64220	STRA6	HP:0001249	Intellectual disability
64220	STRA6	HP:0100867	Duodenal stenosis
64220	STRA6	HP:0000089	Renal hypoplasia
64220	STRA6	HP:0000085	Horseshoe kidney
64220	STRA6	HP:0000076	Vesicoureteral reflux
64220	STRA6	HP:0000023	Inguinal hernia
64220	STRA6	HP:0000028	Cryptorchidism
64220	STRA6	HP:0000013	Hypoplasia of the uterus
64220	STRA6	HP:0000007	Autosomal recessive inheritance
64220	STRA6	HP:0002627	Right aortic arch with mirror image branching
64220	STRA6	HP:0007633	Bilateral microphthalmos
64220	STRA6	HP:0006270	Hypoplastic spleen
64220	STRA6	HP:0000130	Abnormality of the uterus
64220	STRA6	HP:0000125	Pelvic kidney
64220	STRA6	HP:0025408	Abnormal spleen morphology
64220	STRA6	HP:0000126	Hydronephrosis
64220	STRA6	HP:0005944	Bilateral lung agenesis
64220	STRA6	HP:0002089	Pulmonary hypoplasia
64220	STRA6	HP:0002088	Abnormal lung morphology
64220	STRA6	HP:0002093	Respiratory insufficiency
64220	STRA6	HP:0002187	Intellectual disability, profound
64220	STRA6	HP:0004712	Renal malrotation
64220	STRA6	HP:0004935	Pulmonary artery atresia
64220	STRA6	HP:0020186	Multilobulated spleen
64220	STRA6	HP:0004322	Short stature
64220	STRA6	HP:0030680	Abnormality of cardiovascular system morphology
64220	STRA6	HP:0000776	Congenital diaphragmatic hernia
64220	STRA6	HP:0009110	Diaphragmatic eventration
64220	STRA6	HP:0000813	Bicornuate uterus
64220	STRA6	HP:0001508	Failure to thrive
64220	STRA6	HP:0001511	Intrauterine growth retardation
64220	STRA6	HP:0005156	Hypoplastic left atrium
64220	STRA6	HP:0000369	Low-set ears
64220	STRA6	HP:0001680	Coarctation of aorta
64220	STRA6	HP:0000347	Micrognathia
64220	STRA6	HP:0001643	Patent ductus arteriosus
64220	STRA6	HP:0001642	Pulmonic stenosis
64220	STRA6	HP:0001660	Truncus arteriosus
64220	STRA6	HP:0001629	Ventricular septal defect
64220	STRA6	HP:0001636	Tetralogy of Fallot
64220	STRA6	HP:0001631	Atrial septal defect
64220	STRA6	HP:0005311	Agenesis of pulmonary vessels
64220	STRA6	HP:0001734	Annular pancreas
64220	STRA6	HP:0001750	Single ventricle
64220	STRA6	HP:0000431	Wide nasal bridge
64220	STRA6	HP:0000528	Anophthalmia
64220	STRA6	HP:0000581	Blepharophimosis
64220	STRA6	HP:0000568	Microphthalmia
64221	ROBO3	HP:0001290	Generalized hypotonia
64221	ROBO3	HP:0001250	Seizure
64221	ROBO3	HP:0001263	Global developmental delay
64221	ROBO3	HP:0025336	Delayed ability to sit
64221	ROBO3	HP:0001357	Plagiocephaly
64221	ROBO3	HP:0000007	Autosomal recessive inheritance
64221	ROBO3	HP:0002650	Scoliosis
64221	ROBO3	HP:0001321	Cerebellar hypoplasia
64221	ROBO3	HP:0007650	Progressive ophthalmoplegia
64221	ROBO3	HP:0008936	Axial hypotonia
64221	ROBO3	HP:0012110	Hypoplasia of the pons
64221	ROBO3	HP:0100543	Cognitive impairment
64221	ROBO3	HP:0003593	Infantile onset
64221	ROBO3	HP:0003577	Congenital onset
64221	ROBO3	HP:0000639	Nystagmus
64221	ROBO3	HP:0000634	Impaired ocular abduction
64221	ROBO3	HP:0000256	Macrocephaly
64221	ROBO3	HP:0002808	Kyphosis
64221	ROBO3	HP:0007817	Horizontal supranuclear gaze palsy
64221	ROBO3	HP:0002944	Thoracolumbar scoliosis
64221	ROBO3	HP:0000407	Sensorineural hearing impairment
64221	ROBO3	HP:0000484	Hyperopic astigmatism
64221	ROBO3	HP:0000473	Torticollis
64221	ROBO3	HP:0000470	Short neck
64221	ROBO3	HP:0000565	Esotropia
64240	ABCG5	HP:0001138	Optic neuropathy
64240	ABCG5	HP:0010874	Tendon xanthomatosis
64240	ABCG5	HP:0001397	Hepatic steatosis
64240	ABCG5	HP:0000007	Autosomal recessive inheritance
64240	ABCG5	HP:0002094	Dyspnea
64240	ABCG5	HP:0033341	Elevated circulating sitosterol concentration
64240	ABCG5	HP:0007201	Cerebral artery atherosclerosis
64240	ABCG5	HP:0004963	Calcification of the aorta
64240	ABCG5	HP:0004950	Peripheral arterial stenosis
64240	ABCG5	HP:0001920	Renal artery stenosis
64240	ABCG5	HP:0012638	Abnormal nervous system physiology
64240	ABCG5	HP:0003077	Hyperlipidemia
64240	ABCG5	HP:0004381	Supravalvular aortic stenosis
64240	ABCG5	HP:0000799	Renal steatosis
64240	ABCG5	HP:0003124	Hypercholesterolemia
64240	ABCG5	HP:0004416	Precocious atherosclerosis
64240	ABCG5	HP:0003141	Increased LDL cholesterol concentration
64240	ABCG5	HP:0000822	Hypertension
64240	ABCG5	HP:0030882	Coronary artery aneurysm
64240	ABCG5	HP:0100261	Abnormal tendon morphology
64240	ABCG5	HP:0000991	Xanthomatosis
64240	ABCG5	HP:0002829	Arthralgia
64240	ABCG5	HP:0012397	Aortic atherosclerotic lesion
64240	ABCG5	HP:0012373	Abnormal eye physiology
64240	ABCG5	HP:0005177	Premature arteriosclerosis
64240	ABCG5	HP:0005181	Premature coronary artery atherosclerosis
64240	ABCG5	HP:0005162	Abnormal left ventricular function
64240	ABCG5	HP:0001681	Angina pectoris
64240	ABCG5	HP:0001677	Coronary artery atherosclerosis
64240	ABCG5	HP:0001645	Sudden cardiac death
64240	ABCG5	HP:0030148	Heart murmur
64240	ABCG5	HP:0001658	Myocardial infarction
64240	ABCG5	HP:0001653	Mitral regurgitation
64240	ABCG5	HP:0006693	Myocardial steatosis
64240	ABCG5	HP:3000062	Abnormal internal carotid artery morphology
64241	ABCG8	HP:0001138	Optic neuropathy
64241	ABCG8	HP:0001114	Xanthelasma
64241	ABCG8	HP:0010874	Tendon xanthomatosis
64241	ABCG8	HP:0010982	Polygenic inheritance
64241	ABCG8	HP:0001397	Hepatic steatosis
64241	ABCG8	HP:0001369	Arthritis
64241	ABCG8	HP:0000007	Autosomal recessive inheritance
64241	ABCG8	HP:0025435	Increased circulating lactate dehydrogenase concentration
64241	ABCG8	HP:0031290	Tuberous xanthoma
64241	ABCG8	HP:0002027	Abdominal pain
64241	ABCG8	HP:0100546	Carotid artery stenosis
64241	ABCG8	HP:0002094	Dyspnea
64241	ABCG8	HP:0008158	Hyperapobetalipoproteinemia
64241	ABCG8	HP:0003581	Adult onset
64241	ABCG8	HP:0004870	Chronic hemolytic anemia
64241	ABCG8	HP:0003540	Impaired platelet aggregation
64241	ABCG8	HP:0033341	Elevated circulating sitosterol concentration
64241	ABCG8	HP:0004802	Episodic hemolytic anemia
64241	ABCG8	HP:0007201	Cerebral artery atherosclerosis
64241	ABCG8	HP:0001084	Corneal arcus
64241	ABCG8	HP:0001081	Cholelithiasis
64241	ABCG8	HP:0004963	Calcification of the aorta
64241	ABCG8	HP:0020181	Reduced haptoglobin level
64241	ABCG8	HP:0004950	Peripheral arterial stenosis
64241	ABCG8	HP:0001923	Reticulocytosis
64241	ABCG8	HP:0001920	Renal artery stenosis
64241	ABCG8	HP:0001903	Anemia
64241	ABCG8	HP:0001902	Giant platelets
64241	ABCG8	HP:0012638	Abnormal nervous system physiology
64241	ABCG8	HP:0003077	Hyperlipidemia
64241	ABCG8	HP:0004381	Supravalvular aortic stenosis
64241	ABCG8	HP:0000799	Renal steatosis
64241	ABCG8	HP:0004446	Stomatocytosis
64241	ABCG8	HP:0003124	Hypercholesterolemia
64241	ABCG8	HP:0004416	Precocious atherosclerosis
64241	ABCG8	HP:0003141	Increased LDL cholesterol concentration
64241	ABCG8	HP:0000822	Hypertension
64241	ABCG8	HP:0030882	Coronary artery aneurysm
64241	ABCG8	HP:0100261	Abnormal tendon morphology
64241	ABCG8	HP:0000991	Xanthomatosis
64241	ABCG8	HP:0002829	Arthralgia
64241	ABCG8	HP:0012397	Aortic atherosclerotic lesion
64241	ABCG8	HP:0012373	Abnormal eye physiology
64241	ABCG8	HP:0005177	Premature arteriosclerosis
64241	ABCG8	HP:0005181	Premature coronary artery atherosclerosis
64241	ABCG8	HP:0005162	Abnormal left ventricular function
64241	ABCG8	HP:0001681	Angina pectoris
64241	ABCG8	HP:0001677	Coronary artery atherosclerosis
64241	ABCG8	HP:0001645	Sudden cardiac death
64241	ABCG8	HP:0030148	Heart murmur
64241	ABCG8	HP:0001658	Myocardial infarction
64241	ABCG8	HP:0001653	Mitral regurgitation
64241	ABCG8	HP:0006693	Myocardial steatosis
64241	ABCG8	HP:0001744	Splenomegaly
64241	ABCG8	HP:3000062	Abnormal internal carotid artery morphology
64241	ABCG8	HP:0001892	Abnormal bleeding
64241	ABCG8	HP:0001873	Thrombocytopenia
64321	SOX17	HP:0000072	Hydroureter
64321	SOX17	HP:0000074	Ureteropelvic junction obstruction
64321	SOX17	HP:0033737	Grade III vesicoureteral reflux
64321	SOX17	HP:0000010	Recurrent urinary tract infections
64321	SOX17	HP:0000006	Autosomal dominant inheritance
64321	SOX17	HP:0033741	Grade IV vesicoureteral reflux
64321	SOX17	HP:0000126	Hydronephrosis
64321	SOX17	HP:0001561	Polyhydramnios
64321	SOX17	HP:0012450	Chronic constipation
64321	SOX17	HP:0012572	Ureter duplex
64324	NSD1	HP:0001176	Large hands
64324	NSD1	HP:0002474	Expressive language delay
64324	NSD1	HP:0002442	Dyscalculia
64324	NSD1	HP:0010957	Congenital posterior urethral valve
64324	NSD1	HP:0009931	Enlarged naris
64324	NSD1	HP:0009890	High anterior hairline
64324	NSD1	HP:0010864	Intellectual disability, severe
64324	NSD1	HP:0025268	Stuttering
64324	NSD1	HP:0001276	Hypertonia
64324	NSD1	HP:0001270	Motor delay
64324	NSD1	HP:0001256	Intellectual disability, mild
64324	NSD1	HP:0001250	Seizure
64324	NSD1	HP:0001252	Hypotonia
64324	NSD1	HP:0001249	Intellectual disability
64324	NSD1	HP:0001263	Global developmental delay
64324	NSD1	HP:0001257	Spasticity
64324	NSD1	HP:0001231	Abnormal fingernail morphology
64324	NSD1	HP:0002572	Episodic vomiting
64324	NSD1	HP:0006101	Finger syndactyly
64324	NSD1	HP:0008736	Hypoplasia of penis
64324	NSD1	HP:0410263	Brain imaging abnormality
64324	NSD1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
64324	NSD1	HP:0000083	Renal insufficiency
64324	NSD1	HP:0000098	Tall stature
64324	NSD1	HP:0000077	Abnormality of the kidney
64324	NSD1	HP:0000076	Vesicoureteral reflux
64324	NSD1	HP:0000073	Ureteral duplication
64324	NSD1	HP:0000074	Ureteropelvic junction obstruction
64324	NSD1	HP:0001371	Flexion contracture
64324	NSD1	HP:0001388	Joint laxity
64324	NSD1	HP:0001387	Joint stiffness
64324	NSD1	HP:0000047	Hypospadias
64324	NSD1	HP:0000023	Inguinal hernia
64324	NSD1	HP:0001347	Hyperreflexia
64324	NSD1	HP:0001363	Craniosynostosis
64324	NSD1	HP:0000034	Hydrocele testis
64324	NSD1	HP:0000028	Cryptorchidism
64324	NSD1	HP:0008872	Feeding difficulties in infancy
64324	NSD1	HP:0006155	Long phalanx of finger
64324	NSD1	HP:0002664	Neoplasm
64324	NSD1	HP:0001328	Specific learning disability
64324	NSD1	HP:0001344	Absent speech
64324	NSD1	HP:0001338	Partial agenesis of the corpus callosum
64324	NSD1	HP:0001337	Tremor
64324	NSD1	HP:0000006	Autosomal dominant inheritance
64324	NSD1	HP:0001320	Cerebellar vermis hypoplasia
64324	NSD1	HP:0002650	Scoliosis
64324	NSD1	HP:0001319	Neonatal hypotonia
64324	NSD1	HP:0032447	Pulmonary bleb
64324	NSD1	HP:0000189	Narrow palate
64324	NSD1	HP:0000164	Abnormality of the dentition
64324	NSD1	HP:0000144	Decreased fertility
64324	NSD1	HP:0031284	Flushing
64324	NSD1	HP:0002705	High, narrow palate
64324	NSD1	HP:0006288	Advanced eruption of teeth
64324	NSD1	HP:0000126	Hydronephrosis
64324	NSD1	HP:0000104	Renal agenesis
64324	NSD1	HP:0002750	Delayed skeletal maturation
64324	NSD1	HP:0002020	Gastroesophageal reflux
64324	NSD1	HP:0002019	Constipation
64324	NSD1	HP:0004691	2-3 toe syndactyly
64324	NSD1	HP:0002002	Deep philtrum
64324	NSD1	HP:0002007	Frontal bossing
64324	NSD1	HP:0002069	Bilateral tonic-clonic seizure
64324	NSD1	HP:0002059	Cerebral atrophy
64324	NSD1	HP:0010493	Long metacarpals
64324	NSD1	HP:0003468	Abnormal vertebral morphology
64324	NSD1	HP:0002123	Generalized myoclonic seizure
64324	NSD1	HP:0002121	Generalized non-motor (absence) seizure
64324	NSD1	HP:0002119	Ventriculomegaly
64324	NSD1	HP:0004768	Sparse anterior scalp hair
64324	NSD1	HP:0100490	Camptodactyly of finger
64324	NSD1	HP:0009592	Astrocytoma
64324	NSD1	HP:0100702	Arachnoid cyst
64324	NSD1	HP:0002251	Aganglionic megacolon
64324	NSD1	HP:0002213	Fine hair
64324	NSD1	HP:0002280	Enlarged cisterna magna
64324	NSD1	HP:0007018	Attention deficit hyperactivity disorder
64324	NSD1	HP:0011968	Feeding difficulties
64324	NSD1	HP:0002389	Cavum septum pellucidum
64324	NSD1	HP:0002384	Focal impaired awareness seizure
64324	NSD1	HP:0001028	Hemangioma
64324	NSD1	HP:0002370	Poor coordination
64324	NSD1	HP:0002342	Intellectual disability, moderate
64324	NSD1	HP:0001010	Hypopigmentation of the skin
64324	NSD1	HP:0008498	No permanent dentition
64324	NSD1	HP:0009797	Cholesteatoma
64324	NSD1	HP:0010741	Pedal edema
64324	NSD1	HP:0003623	Neonatal onset
64324	NSD1	HP:0004942	Aortic aneurysm
64324	NSD1	HP:0000639	Nystagmus
64324	NSD1	HP:0001952	Glucose intolerance
64324	NSD1	HP:0000696	Delayed eruption of permanent teeth
64324	NSD1	HP:0011304	Broad thumb
64324	NSD1	HP:0000668	Hypodontia
64324	NSD1	HP:0001998	Neonatal hypoglycemia
64324	NSD1	HP:0004324	Increased body weight
64324	NSD1	HP:0004322	Short stature
64324	NSD1	HP:0005617	Bilateral camptodactyly
64324	NSD1	HP:0005616	Accelerated skeletal maturation
64324	NSD1	HP:0030680	Abnormality of cardiovascular system morphology
64324	NSD1	HP:0003072	Hypercalcemia
64324	NSD1	HP:0005692	Joint hyperflexibility
64324	NSD1	HP:0003006	Neuroblastoma
64324	NSD1	HP:0400000	Tall chin
64324	NSD1	HP:0000767	Pectus excavatum
64324	NSD1	HP:0000739	Anxiety
64324	NSD1	HP:0000750	Delayed speech and language development
64324	NSD1	HP:0000718	Aggressive behavior
64324	NSD1	HP:0000729	Autistic behavior
64324	NSD1	HP:0000708	Atypical behavior
64324	NSD1	HP:0011463	Childhood onset
64324	NSD1	HP:0011461	Fetal onset
64324	NSD1	HP:0012771	Increased arm span
64324	NSD1	HP:0030736	Sacrococcygeal teratoma
64324	NSD1	HP:0012801	Narrow jaw
64324	NSD1	HP:0000821	Hypothyroidism
64324	NSD1	HP:0003273	Hip contracture
64324	NSD1	HP:0045075	Sparse eyebrow
64324	NSD1	HP:0010300	Abnormally low-pitched voice
64324	NSD1	HP:0011623	Muscular ventricular septal defect
64324	NSD1	HP:0000953	Hyperpigmentation of the skin
64324	NSD1	HP:0000944	Abnormal metaphysis morphology
64324	NSD1	HP:0040194	Increased head circumference
64324	NSD1	HP:0000280	Coarse facial features
64324	NSD1	HP:0000278	Retrognathia
64324	NSD1	HP:0000256	Macrocephaly
64324	NSD1	HP:0000275	Narrow face
64324	NSD1	HP:0000276	Long face
64324	NSD1	HP:0000268	Dolichocephaly
64324	NSD1	HP:0006466	Ankle flexion contracture
64324	NSD1	HP:0002808	Kyphosis
64324	NSD1	HP:0000252	Microcephaly
64324	NSD1	HP:0001582	Redundant skin
64324	NSD1	HP:0001548	Overgrowth
64324	NSD1	HP:0000218	High palate
64324	NSD1	HP:0001558	Decreased fetal movement
64324	NSD1	HP:0002857	Genu valgum
64324	NSD1	HP:0001537	Umbilical hernia
64324	NSD1	HP:0001510	Growth delay
64324	NSD1	HP:0000389	Chronic otitis media
64324	NSD1	HP:0000388	Otitis media
64324	NSD1	HP:0006579	Prolonged neonatal jaundice
64324	NSD1	HP:0001609	Hoarse voice
64324	NSD1	HP:0000365	Hearing impairment
64324	NSD1	HP:0000358	Posteriorly rotated ears
64324	NSD1	HP:0000369	Low-set ears
64324	NSD1	HP:0000368	Low-set, posteriorly rotated ears
64324	NSD1	HP:0000343	Long philtrum
64324	NSD1	HP:0000337	Broad forehead
64324	NSD1	HP:0000348	High forehead
64324	NSD1	HP:0000347	Micrognathia
64324	NSD1	HP:0000316	Hypertelorism
64324	NSD1	HP:0001643	Patent ductus arteriosus
64324	NSD1	HP:0000311	Round face
64324	NSD1	HP:0000325	Triangular face
64324	NSD1	HP:0001629	Ventricular septal defect
64324	NSD1	HP:0001627	Abnormal heart morphology
64324	NSD1	HP:0000307	Pointed chin
64324	NSD1	HP:0001631	Atrial septal defect
64324	NSD1	HP:0000303	Mandibular prognathia
64324	NSD1	HP:0000405	Conductive hearing impairment
64324	NSD1	HP:0000400	Macrotia
64324	NSD1	HP:0005280	Depressed nasal bridge
64324	NSD1	HP:0000483	Astigmatism
64324	NSD1	HP:0000486	Strabismus
64324	NSD1	HP:0000494	Downslanted palpebral fissures
64324	NSD1	HP:0001792	Small nail
64324	NSD1	HP:0000463	Anteverted nares
64324	NSD1	HP:0000455	Broad nasal tip
64324	NSD1	HP:0001769	Broad foot
64324	NSD1	HP:0001763	Pes planus
64324	NSD1	HP:0001741	Phimosis
64324	NSD1	HP:0001762	Talipes equinovarus
64324	NSD1	HP:0001761	Pes cavus
64324	NSD1	HP:0006721	Acute lymphoblastic leukemia
64324	NSD1	HP:0000518	Cataract
64324	NSD1	HP:0001852	Sandal gap
64324	NSD1	HP:0001833	Long foot
64324	NSD1	HP:0001800	Hypoplastic toenails
64324	NSD1	HP:0001816	Thin nail
64324	NSD1	HP:0001814	Deep-set nails
64324	NSD1	HP:0030357	Small cell lung carcinoma
64324	NSD1	HP:0011220	Prominent forehead
64324	NSD1	HP:0000565	Esotropia
64324	NSD1	HP:0000540	Hypermetropia
64324	NSD1	HP:0000545	Myopia
64327	LMBR1	HP:0001177	Preaxial hand polydactyly
64327	LMBR1	HP:0001172	Abnormal thumb morphology
64327	LMBR1	HP:0001162	Postaxial hand polydactyly
64327	LMBR1	HP:0001161	Hand polydactyly
64327	LMBR1	HP:0001159	Syndactyly
64327	LMBR1	HP:0009942	Duplication of thumb phalanx
64327	LMBR1	HP:0001199	Triphalangeal thumb
64327	LMBR1	HP:0001252	Hypotonia
64327	LMBR1	HP:0001249	Intellectual disability
64327	LMBR1	HP:0006101	Finger syndactyly
64327	LMBR1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
64327	LMBR1	HP:0006088	1-5 finger complete cutaneous syndactyly
64327	LMBR1	HP:0001376	Limitation of joint mobility
64327	LMBR1	HP:0000028	Cryptorchidism
64327	LMBR1	HP:0000007	Autosomal recessive inheritance
64327	LMBR1	HP:0000006	Autosomal dominant inheritance
64327	LMBR1	HP:0003982	Aplasia of the ulna
64327	LMBR1	HP:0003974	Absent radius
64327	LMBR1	HP:0002714	Downturned corners of mouth
64327	LMBR1	HP:0004691	2-3 toe syndactyly
64327	LMBR1	HP:0002000	Short columella
64327	LMBR1	HP:0100524	Limb duplication
64327	LMBR1	HP:0010442	Polydactyly
64327	LMBR1	HP:0005930	Abnormal epiphysis morphology
64327	LMBR1	HP:0005917	Supernumerary metacarpal bones
64327	LMBR1	HP:0005916	Abnormal metacarpal morphology
64327	LMBR1	HP:0009484	Deviation of the hand or of fingers of the hand
64327	LMBR1	HP:0009606	Complete duplication of distal phalanx of the thumb
64327	LMBR1	HP:0009601	Aplasia/Hypoplasia of the thumb
64327	LMBR1	HP:0100490	Camptodactyly of finger
64327	LMBR1	HP:0009556	Absent tibia
64327	LMBR1	HP:0010509	Aplasia of the tarsal bones
64327	LMBR1	HP:0010503	Fibular duplication
64327	LMBR1	HP:0003577	Congenital onset
64327	LMBR1	HP:0010708	1-5 finger syndactyly
64327	LMBR1	HP:0010689	Mirror image polydactyly
64327	LMBR1	HP:0008368	Tarsal synostosis
64327	LMBR1	HP:0009828	Peromelia
64327	LMBR1	HP:0009820	Lower limb peromelia
64327	LMBR1	HP:0009813	Upper limb phocomelia
64327	LMBR1	HP:0009802	Aplasia of the phalanges of the hand
64327	LMBR1	HP:0010760	Absent toe
64327	LMBR1	HP:0010744	Absent metatarsal bone
64327	LMBR1	HP:0010066	Duplication of phalanx of hallux
64327	LMBR1	HP:0004243	Abnormality of the scaphoid
64327	LMBR1	HP:0004252	Abnormality of the trapezium
64327	LMBR1	HP:0004231	Carpal bone aplasia
64327	LMBR1	HP:0010048	Aplasia of metacarpal bones
64327	LMBR1	HP:0010035	Aplasia of the 1st metacarpal
64327	LMBR1	HP:0004322	Short stature
64327	LMBR1	HP:0005632	Absent forearm
64327	LMBR1	HP:0003019	Abnormality of the wrist
64327	LMBR1	HP:0005772	Aplasia/Hypoplasia of the tibia
64327	LMBR1	HP:0005736	Short tibia
64327	LMBR1	HP:0005792	Short humerus
64327	LMBR1	HP:0005866	Opposable triphalangeal thumb
64327	LMBR1	HP:0100259	Postaxial polydactyly
64327	LMBR1	HP:0100258	Preaxial polydactyly
64327	LMBR1	HP:0000944	Abnormal metaphysis morphology
64327	LMBR1	HP:0000271	Abnormality of the face
64327	LMBR1	HP:0006443	Patellar aplasia
64327	LMBR1	HP:0005048	Synostosis of carpal bones
64327	LMBR1	HP:0000238	Hydrocephalus
64327	LMBR1	HP:0001501	6 metacarpals
64327	LMBR1	HP:0006501	Aplasia/Hypoplasia of the radius
64327	LMBR1	HP:0000366	Abnormality of the nose
64327	LMBR1	HP:0000316	Hypertelorism
64327	LMBR1	HP:0002991	Abnormality of fibula morphology
64327	LMBR1	HP:0002990	Fibular aplasia
64327	LMBR1	HP:0004050	Absent hand
64327	LMBR1	HP:0000457	Depressed nasal ridge
64327	LMBR1	HP:0001770	Toe syndactyly
64327	LMBR1	HP:0001773	Short foot
64327	LMBR1	HP:0001769	Broad foot
64327	LMBR1	HP:0000448	Prominent nose
64327	LMBR1	HP:0000430	Underdeveloped nasal alae
64327	LMBR1	HP:0001841	Preaxial foot polydactyly
64327	LMBR1	HP:0001829	Foot polydactyly
64327	LMBR1	HP:0001830	Postaxial foot polydactyly
64327	LMBR1	HP:0001883	Talipes
64359	NXN	HP:0001171	Split hand
64359	NXN	HP:0001156	Brachydactyly
64359	NXN	HP:0009882	Short distal phalanx of finger
64359	NXN	HP:0001249	Intellectual disability
64359	NXN	HP:0001263	Global developmental delay
64359	NXN	HP:0006101	Finger syndactyly
64359	NXN	HP:0008736	Hypoplasia of penis
64359	NXN	HP:0001212	Prominent fingertip pads
64359	NXN	HP:0000023	Inguinal hernia
64359	NXN	HP:0000028	Cryptorchidism
64359	NXN	HP:0008873	Disproportionate short-limb short stature
64359	NXN	HP:0000007	Autosomal recessive inheritance
64359	NXN	HP:0000003	Multicystic kidney dysplasia
64359	NXN	HP:0002650	Scoliosis
64359	NXN	HP:0000185	Cleft soft palate
64359	NXN	HP:0000164	Abnormality of the dentition
64359	NXN	HP:0000174	Abnormal palate morphology
64359	NXN	HP:0000154	Wide mouth
64359	NXN	HP:0007598	Bilateral single transverse palmar creases
64359	NXN	HP:0000126	Hydronephrosis
64359	NXN	HP:0002714	Downturned corners of mouth
64359	NXN	HP:0002007	Frontal bossing
64359	NXN	HP:0011800	Midface retrusion
64359	NXN	HP:0003422	Vertebral segmentation defect
64359	NXN	HP:0100490	Camptodactyly of finger
64359	NXN	HP:0002263	Exaggerated cupid's bow
64359	NXN	HP:0003577	Congenital onset
64359	NXN	HP:0002205	Recurrent respiratory infections
64359	NXN	HP:0100798	Fingernail dysplasia
64359	NXN	HP:0001052	Nevus flammeus
64359	NXN	HP:0010804	Tented upper lip vermilion
64359	NXN	HP:0010807	Open bite
64359	NXN	HP:0004209	Clinodactyly of the 5th finger
64359	NXN	HP:0010059	Broad hallux phalanx
64359	NXN	HP:0000637	Long palpebral fissure
64359	NXN	HP:0010055	Broad hallux
64359	NXN	HP:0011304	Broad thumb
64359	NXN	HP:0000668	Hypodontia
64359	NXN	HP:0004322	Short stature
64359	NXN	HP:0004397	Ectopic anus
64359	NXN	HP:0003042	Elbow dislocation
64359	NXN	HP:0003027	Mesomelia
64359	NXN	HP:0000767	Pectus excavatum
64359	NXN	HP:0000768	Pectus carinatum
64359	NXN	HP:0000750	Delayed speech and language development
64359	NXN	HP:0003196	Short nose
64359	NXN	HP:0000902	Rib fusion
64359	NXN	HP:0004482	Relative macrocephaly
64359	NXN	HP:0012815	Hypoplastic female external genitalia
64359	NXN	HP:0010292	Absent uvula
64359	NXN	HP:0010297	Bifid tongue
64359	NXN	HP:0010296	Ankyloglossia
64359	NXN	HP:0003272	Abnormal hip bone morphology
64359	NXN	HP:0000960	Sacral dimple
64359	NXN	HP:0000286	Epicanthus
64359	NXN	HP:0001596	Alopecia
64359	NXN	HP:0000256	Macrocephaly
64359	NXN	HP:0030084	Clinodactyly
64359	NXN	HP:0002808	Kyphosis
64359	NXN	HP:0005048	Synostosis of carpal bones
64359	NXN	HP:0000212	Gingival overgrowth
64359	NXN	HP:0001522	Death in infancy
64359	NXN	HP:0001537	Umbilical hernia
64359	NXN	HP:0001539	Omphalocele
64359	NXN	HP:0000207	Triangular mouth
64359	NXN	HP:0000202	Orofacial cleft
64359	NXN	HP:0011069	Supernumerary tooth
64359	NXN	HP:0012385	Camptodactyly
64359	NXN	HP:0000389	Chronic otitis media
64359	NXN	HP:0002933	Ventral hernia
64359	NXN	HP:0000365	Hearing impairment
64359	NXN	HP:0000358	Posteriorly rotated ears
64359	NXN	HP:0000369	Low-set ears
64359	NXN	HP:0000368	Low-set, posteriorly rotated ears
64359	NXN	HP:0000343	Long philtrum
64359	NXN	HP:0001679	Abnormal aortic morphology
64359	NXN	HP:0000348	High forehead
64359	NXN	HP:0000347	Micrognathia
64359	NXN	HP:0001647	Bicuspid aortic valve
64359	NXN	HP:0000316	Hypertelorism
64359	NXN	HP:0000322	Short philtrum
64359	NXN	HP:0001629	Ventricular septal defect
64359	NXN	HP:0001641	Abnormal pulmonary valve morphology
64359	NXN	HP:0001636	Tetralogy of Fallot
64359	NXN	HP:0001631	Atrial septal defect
64359	NXN	HP:0001702	Abnormal tricuspid valve morphology
64359	NXN	HP:0005280	Depressed nasal bridge
64359	NXN	HP:0000486	Strabismus
64359	NXN	HP:0000494	Downslanted palpebral fissures
64359	NXN	HP:0000463	Anteverted nares
64359	NXN	HP:0000455	Broad nasal tip
64359	NXN	HP:0000470	Short neck
64359	NXN	HP:0001770	Toe syndactyly
64359	NXN	HP:0000431	Wide nasal bridge
64359	NXN	HP:0000527	Long eyelashes
64359	NXN	HP:0001852	Sandal gap
64359	NXN	HP:0000520	Proptosis
64359	NXN	HP:0000508	Ptosis
64359	NXN	HP:0000582	Upslanted palpebral fissure
64359	NXN	HP:0000592	Blue sclerae
64374	SIL1	HP:0001156	Brachydactyly
64374	SIL1	HP:0001167	Abnormal finger morphology
64374	SIL1	HP:0001276	Hypertonia
64374	SIL1	HP:0001272	Cerebellar atrophy
64374	SIL1	HP:0001284	Areflexia
64374	SIL1	HP:0001252	Hypotonia
64374	SIL1	HP:0001251	Ataxia
64374	SIL1	HP:0001249	Intellectual disability
64374	SIL1	HP:0001265	Hyporeflexia
64374	SIL1	HP:0001260	Dysarthria
64374	SIL1	HP:0001263	Global developmental delay
64374	SIL1	HP:0001257	Spasticity
64374	SIL1	HP:0003805	Rimmed vacuoles
64374	SIL1	HP:0001371	Flexion contracture
64374	SIL1	HP:0001385	Hip dysplasia
64374	SIL1	HP:0001328	Specific learning disability
64374	SIL1	HP:0002673	Coxa valga
64374	SIL1	HP:0000007	Autosomal recessive inheritance
64374	SIL1	HP:0002650	Scoliosis
64374	SIL1	HP:0001321	Cerebellar hypoplasia
64374	SIL1	HP:0000135	Hypogonadism
64374	SIL1	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
64374	SIL1	HP:0003323	Progressive muscle weakness
64374	SIL1	HP:0002066	Gait ataxia
64374	SIL1	HP:0002063	Rigidity
64374	SIL1	HP:0002070	Limb ataxia
64374	SIL1	HP:0005916	Abnormal metacarpal morphology
64374	SIL1	HP:0002167	Abnormality of speech or vocalization
64374	SIL1	HP:0010547	Muscle flaccidity
64374	SIL1	HP:0010508	Metatarsus valgus
64374	SIL1	HP:0008278	Cerebellar cortical atrophy
64374	SIL1	HP:0003593	Infantile onset
64374	SIL1	HP:0003552	Muscle stiffness
64374	SIL1	HP:0003560	Muscular dystrophy
64374	SIL1	HP:0003510	Severe short stature
64374	SIL1	HP:0003687	Centrally nucleated skeletal muscle fibers
64374	SIL1	HP:0002334	Abnormal cerebellar vermis morphology
64374	SIL1	HP:0100660	Dyskinesia
64374	SIL1	HP:0009830	Peripheral neuropathy
64374	SIL1	HP:0010743	Short metatarsal
64374	SIL1	HP:0004279	Short palm
64374	SIL1	HP:0000639	Nystagmus
64374	SIL1	HP:0000648	Optic atrophy
64374	SIL1	HP:0010049	Short metacarpal
64374	SIL1	HP:0004322	Short stature
64374	SIL1	HP:0000768	Pectus carinatum
64374	SIL1	HP:0011463	Childhood onset
64374	SIL1	HP:0005743	Avascular necrosis of the capital femoral epiphysis
64374	SIL1	HP:0003198	Myopathy
64374	SIL1	HP:0000815	Hypergonadotropic hypogonadism
64374	SIL1	HP:0040081	Abnormal circulating creatine kinase concentration
64374	SIL1	HP:0003236	Elevated circulating creatine kinase concentration
64374	SIL1	HP:0003241	External genital hypoplasia
64374	SIL1	HP:0003202	Skeletal muscle atrophy
64374	SIL1	HP:0045040	Abnormal lactate dehydrogenase level
64374	SIL1	HP:0002827	Hip dislocation
64374	SIL1	HP:0002808	Kyphosis
64374	SIL1	HP:0000252	Microcephaly
64374	SIL1	HP:0001508	Failure to thrive
64374	SIL1	HP:0001618	Dysphonia
64374	SIL1	HP:0002967	Cubitus valgus
64374	SIL1	HP:0000486	Strabismus
64374	SIL1	HP:0001763	Pes planus
64374	SIL1	HP:0012400	Abnormal circulating aldolase concentration
64374	SIL1	HP:0000518	Cataract
64374	SIL1	HP:0000519	Developmental cataract
64376	IKZF5	HP:0033536	Reduced platelet alpha granules
64376	IKZF5	HP:0033535	Reduced platelet dense granules
64376	IKZF5	HP:0000006	Autosomal dominant inheritance
64376	IKZF5	HP:0011891	Post-partum hemorrhage
64376	IKZF5	HP:0011870	Impaired arachidonic acid-induced platelet aggregation
64376	IKZF5	HP:0011871	Impaired ristocetin-induced platelet aggregation
64376	IKZF5	HP:0004866	Impaired ADP-induced platelet aggregation
64376	IKZF5	HP:0008320	Impaired collagen-induced platelet aggregation
64376	IKZF5	HP:0001873	Thrombocytopenia
64377	CHST8	HP:0000007	Autosomal recessive inheritance
64377	CHST8	HP:0010783	Erythema
64377	CHST8	HP:0000989	Pruritus
64377	CHST8	HP:0040190	White scaling skin
64377	CHST8	HP:0001595	Abnormal hair morphology
64388	GREM2	HP:0000006	Autosomal dominant inheritance
64388	GREM2	HP:0000679	Taurodontia
64388	GREM2	HP:0000691	Microdontia
64388	GREM2	HP:0001592	Selective tooth agenesis
64412	GZF1	HP:0001249	Intellectual disability
64412	GZF1	HP:0001382	Joint hypermobility
64412	GZF1	HP:0000023	Inguinal hernia
64412	GZF1	HP:0012095	Multiple joint dislocation
64412	GZF1	HP:0000007	Autosomal recessive inheritance
64412	GZF1	HP:0002751	Kyphoscoliosis
64412	GZF1	HP:0000612	Iris coloboma
64412	GZF1	HP:0004322	Short stature
64412	GZF1	HP:0000768	Pectus carinatum
64412	GZF1	HP:0001537	Umbilical hernia
64412	GZF1	HP:0002947	Cervical kyphosis
64412	GZF1	HP:0000365	Hearing impairment
64412	GZF1	HP:0011003	High myopia
64412	GZF1	HP:0001762	Talipes equinovarus
64412	GZF1	HP:0000501	Glaucoma
64412	GZF1	HP:0000567	Chorioretinal coloboma
64412	GZF1	HP:0000541	Retinal detachment
64419	MTMR14	HP:0003738	Exercise-induced myalgia
64419	MTMR14	HP:0003701	Proximal muscle weakness
64419	MTMR14	HP:0003712	Skeletal muscle hypertrophy
64419	MTMR14	HP:0001290	Generalized hypotonia
64419	MTMR14	HP:0001270	Motor delay
64419	MTMR14	HP:0001284	Areflexia
64419	MTMR14	HP:0002522	Areflexia of lower limbs
64419	MTMR14	HP:0003803	Type 1 muscle fiber predominance
64419	MTMR14	HP:0001371	Flexion contracture
64419	MTMR14	HP:0000020	Urinary incontinence
64419	MTMR14	HP:0000028	Cryptorchidism
64419	MTMR14	HP:0000006	Autosomal dominant inheritance
64419	MTMR14	HP:0008994	Proximal muscle weakness in lower limbs
64419	MTMR14	HP:0008997	Proximal muscle weakness in upper limbs
64419	MTMR14	HP:0008981	Calf muscle hypertrophy
64419	MTMR14	HP:0008948	Proximal upper limb amyotrophy
64419	MTMR14	HP:0001436	Abnormality of the foot musculature
64419	MTMR14	HP:0002747	Respiratory insufficiency due to muscle weakness
64419	MTMR14	HP:0002021	Pyloric stenosis
64419	MTMR14	HP:0003307	Hyperlordosis
64419	MTMR14	HP:0002047	Malignant hyperthermia
64419	MTMR14	HP:0003388	Easy fatigability
64419	MTMR14	HP:0008180	Mildly elevated creatine kinase
64419	MTMR14	HP:0003477	Peripheral axonal neuropathy
64419	MTMR14	HP:0003458	EMG: myopathic abnormalities
64419	MTMR14	HP:0002194	Delayed gross motor development
64419	MTMR14	HP:0010546	Muscle fibrillation
64419	MTMR14	HP:0003593	Infantile onset
64419	MTMR14	HP:0003577	Congenital onset
64419	MTMR14	HP:0010628	Facial palsy
64419	MTMR14	HP:0001048	Cavernous hemangioma
64419	MTMR14	HP:0002355	Difficulty walking
64419	MTMR14	HP:0003687	Centrally nucleated skeletal muscle fibers
64419	MTMR14	HP:0003677	Slowly progressive
64419	MTMR14	HP:0007126	Proximal amyotrophy
64419	MTMR14	HP:0009053	Distal lower limb muscle weakness
64419	MTMR14	HP:0012768	Neonatal asphyxia
64419	MTMR14	HP:0004488	Macrocephaly at birth
64419	MTMR14	HP:0000883	Thin ribs
64419	MTMR14	HP:0100284	EMG: myotonic discharges
64419	MTMR14	HP:0030007	EMG: positive sharp waves
64419	MTMR14	HP:0001561	Polyhydramnios
64419	MTMR14	HP:0001558	Decreased fetal movement
64419	MTMR14	HP:0001520	Large for gestational age
64419	MTMR14	HP:0005268	Miscarriage
64419	MTMR14	HP:0005335	Sleepy facial expression
64419	MTMR14	HP:0000508	Ptosis
64419	MTMR14	HP:0000544	External ophthalmoplegia
64421	DCLRE1C	HP:0100806	Sepsis
64421	DCLRE1C	HP:0100840	Aplasia/Hypoplasia of the eyebrow
64421	DCLRE1C	HP:0010976	B lymphocytopenia
64421	DCLRE1C	HP:0007549	Desquamation of skin soon after birth
64421	DCLRE1C	HP:0000007	Autosomal recessive inheritance
64421	DCLRE1C	HP:0002665	Lymphoma
64421	DCLRE1C	HP:0031123	Recurrent gastroenteritis
64421	DCLRE1C	HP:0000155	Oral ulcer
64421	DCLRE1C	HP:0008940	Generalized lymphadenopathy
64421	DCLRE1C	HP:0002788	Recurrent upper respiratory tract infections
64421	DCLRE1C	HP:0000100	Nephrotic syndrome
64421	DCLRE1C	HP:0002732	Lymph node hypoplasia
64421	DCLRE1C	HP:0002718	Recurrent bacterial infections
64421	DCLRE1C	HP:0002716	Lymphadenopathy
64421	DCLRE1C	HP:0002720	Decreased circulating IgA level
64421	DCLRE1C	HP:0002028	Chronic diarrhea
64421	DCLRE1C	HP:0002014	Diarrhea
64421	DCLRE1C	HP:0002090	Pneumonia
64421	DCLRE1C	HP:0003593	Infantile onset
64421	DCLRE1C	HP:0002240	Hepatomegaly
64421	DCLRE1C	HP:0200117	Recurrent upper and lower respiratory tract infections
64421	DCLRE1C	HP:0002293	Alopecia of scalp
64421	DCLRE1C	HP:0020086	BCGitis
64421	DCLRE1C	HP:0001045	Vitiligo
64421	DCLRE1C	HP:0001019	Erythroderma
64421	DCLRE1C	HP:0100646	Thyroiditis
64421	DCLRE1C	HP:0001072	Thickened skin
64421	DCLRE1C	HP:0200043	Verrucae
64421	DCLRE1C	HP:0009098	Chronic oral candidiasis
64421	DCLRE1C	HP:0001974	Leukocytosis
64421	DCLRE1C	HP:0001945	Fever
64421	DCLRE1C	HP:0001903	Anemia
64421	DCLRE1C	HP:0004315	Decreased circulating IgG level
64421	DCLRE1C	HP:0004332	Abnormal lymphocyte morphology
64421	DCLRE1C	HP:0003075	Hypoproteinemia
64421	DCLRE1C	HP:0005681	Juvenile rheumatoid arthritis
64421	DCLRE1C	HP:0000778	Hypoplasia of the thymus
64421	DCLRE1C	HP:0004430	Severe combined immunodeficiency
64421	DCLRE1C	HP:0004429	Recurrent viral infections
64421	DCLRE1C	HP:0003139	Panhypogammaglobulinemia
64421	DCLRE1C	HP:0000872	Hashimoto thyroiditis
64421	DCLRE1C	HP:0000821	Hypothyroidism
64421	DCLRE1C	HP:0003212	Increased circulating IgE level
64421	DCLRE1C	HP:0030813	Absent tonsils
64421	DCLRE1C	HP:0045080	Decreased proportion of CD3-positive T cells
64421	DCLRE1C	HP:0003249	Genital ulcers
64421	DCLRE1C	HP:0000989	Pruritus
64421	DCLRE1C	HP:0000988	Skin rash
64421	DCLRE1C	HP:0000958	Dry skin
64421	DCLRE1C	HP:0000969	Edema
64421	DCLRE1C	HP:0000944	Abnormal metaphysis morphology
64421	DCLRE1C	HP:0001596	Alopecia
64421	DCLRE1C	HP:0001508	Failure to thrive
64421	DCLRE1C	HP:0002841	Recurrent fungal infections
64421	DCLRE1C	HP:0000388	Otitis media
64421	DCLRE1C	HP:0002960	Autoimmunity
64421	DCLRE1C	HP:0005359	Aplasia of the thymus
64421	DCLRE1C	HP:0005365	Severe B lymphocytopenia
64421	DCLRE1C	HP:0031545	Abnormally low T cell receptor excision circle level
64421	DCLRE1C	HP:0011107	Recurrent aphthous stomatitis
64421	DCLRE1C	HP:0001744	Splenomegaly
64421	DCLRE1C	HP:0011274	Recurrent mycobacterial infections
64421	DCLRE1C	HP:0001831	Short toe
64421	DCLRE1C	HP:0005390	Recurrent opportunistic infections
64421	DCLRE1C	HP:0030350	Erythematous papule
64421	DCLRE1C	HP:0001888	Lymphopenia
64421	DCLRE1C	HP:0001880	Eosinophilia
64421	DCLRE1C	HP:0001873	Thrombocytopenia
64423	INF2	HP:0002460	Distal muscle weakness
64423	INF2	HP:0003774	Stage 5 chronic kidney disease
64423	INF2	HP:0001284	Areflexia
64423	INF2	HP:0002586	Peritonitis
64423	INF2	HP:0001265	Hyporeflexia
64423	INF2	HP:0000097	Focal segmental glomerulosclerosis
64423	INF2	HP:0000093	Proteinuria
64423	INF2	HP:0000006	Autosomal dominant inheritance
64423	INF2	HP:0008944	Distal lower limb amyotrophy
64423	INF2	HP:0002027	Abdominal pain
64423	INF2	HP:0100539	Periorbital edema
64423	INF2	HP:0003376	Steppage gait
64423	INF2	HP:0003383	Onion bulb formation
64423	INF2	HP:0003447	Axonal loss
64423	INF2	HP:0003581	Adult onset
64423	INF2	HP:0011947	Respiratory tract infection
64423	INF2	HP:0003676	Progressive
64423	INF2	HP:0002315	Headache
64423	INF2	HP:0009830	Peripheral neuropathy
64423	INF2	HP:0007149	Distal upper limb amyotrophy
64423	INF2	HP:0003621	Juvenile onset
64423	INF2	HP:0012622	Chronic kidney disease
64423	INF2	HP:0001967	Diffuse mesangial sclerosis
64423	INF2	HP:0001945	Fever
64423	INF2	HP:0009027	Foot dorsiflexor weakness
64423	INF2	HP:0003073	Hypoalbuminemia
64423	INF2	HP:0000737	Irritability
64423	INF2	HP:0000707	Abnormality of the nervous system
64423	INF2	HP:0011462	Young adult onset
64423	INF2	HP:0000822	Hypertension
64423	INF2	HP:0003236	Elevated circulating creatine kinase concentration
64423	INF2	HP:0034337	Claw hand deformity
64423	INF2	HP:0000969	Edema
64423	INF2	HP:0031504	Foamy urine
64423	INF2	HP:0002936	Distal sensory impairment
64423	INF2	HP:0002907	Microscopic hematuria
64423	INF2	HP:0000407	Sensorineural hearing impairment
64423	INF2	HP:0001765	Hammertoe
64423	INF2	HP:0001761	Pes cavus
64423	INF2	HP:0012579	Minimal change glomerulonephritis
64432	MRPS25	HP:0007325	Generalized dystonia
64432	MRPS25	HP:0002421	Poor head control
64432	MRPS25	HP:0001270	Motor delay
64432	MRPS25	HP:0001263	Global developmental delay
64432	MRPS25	HP:0001385	Hip dysplasia
64432	MRPS25	HP:0001348	Brisk reflexes
64432	MRPS25	HP:0001338	Partial agenesis of the corpus callosum
64432	MRPS25	HP:0000007	Autosomal recessive inheritance
64432	MRPS25	HP:0002015	Dysphagia
64432	MRPS25	HP:0033128	Delayed ability to crawl
64432	MRPS25	HP:0003593	Infantile onset
64432	MRPS25	HP:0008347	Decreased activity of mitochondrial complex IV
64432	MRPS25	HP:0004322	Short stature
64432	MRPS25	HP:0031936	Delayed ability to walk
64432	MRPS25	HP:0000846	Adrenal insufficiency
64432	MRPS25	HP:0000252	Microcephaly
64432	MRPS25	HP:0001511	Intrauterine growth retardation
64432	MRPS25	HP:0032989	Delayed ability to roll over
64446	DNAI2	HP:0025177	Peribronchovascular interstitial thickening
64446	DNAI2	HP:0002566	Intestinal malrotation
64446	DNAI2	HP:0001217	Clubbing
64446	DNAI2	HP:0000007	Autosomal recessive inheritance
64446	DNAI2	HP:0002643	Neonatal respiratory distress
64446	DNAI2	HP:0000119	Abnormality of the genitourinary system
64446	DNAI2	HP:0032543	Lithoptysis
64446	DNAI2	HP:0031245	Productive cough
64446	DNAI2	HP:0002011	Morphological central nervous system abnormality
64446	DNAI2	HP:0002090	Pneumonia
64446	DNAI2	HP:0100582	Nasal polyposis
64446	DNAI2	HP:0002119	Ventriculomegaly
64446	DNAI2	HP:0002110	Bronchiectasis
64446	DNAI2	HP:0008222	Female infertility
64446	DNAI2	HP:0002257	Chronic rhinitis
64446	DNAI2	HP:0100750	Atelectasis
64446	DNAI2	HP:0032016	Abnormal sputum
64446	DNAI2	HP:0011947	Respiratory tract infection
64446	DNAI2	HP:0010772	Anomalous pulmonary venous return
64446	DNAI2	HP:0003623	Neonatal onset
64446	DNAI2	HP:0030680	Abnormality of cardiovascular system morphology
64446	DNAI2	HP:0012735	Cough
64446	DNAI2	HP:0000750	Delayed speech and language development
64446	DNAI2	HP:0000924	Abnormality of the skeletal system
64446	DNAI2	HP:0011539	Atrial situs ambiguous
64446	DNAI2	HP:0011535	Abnormal atrial arrangement
64446	DNAI2	HP:0030828	Wheezing
64446	DNAI2	HP:0003251	Male infertility
64446	DNAI2	HP:0011617	Pulmonary situs ambiguus
64446	DNAI2	HP:0033036	Decreased nasal nitric oxide
64446	DNAI2	HP:0025576	Abnormal inferior vena cava morphology
64446	DNAI2	HP:0012265	Ciliary dyskinesia
64446	DNAI2	HP:0012256	Absent outer dynein arms
64446	DNAI2	HP:0000238	Hydrocephalus
64446	DNAI2	HP:0012206	Abnormal sperm motility
64446	DNAI2	HP:0002878	Respiratory failure
64446	DNAI2	HP:0000389	Chronic otitis media
64446	DNAI2	HP:0006536	Airway obstruction
64446	DNAI2	HP:0001696	Situs inversus totalis
64446	DNAI2	HP:0000365	Hearing impairment
64446	DNAI2	HP:0001669	Transposition of the great arteries
64446	DNAI2	HP:0031456	Ectopic pregnancy
64446	DNAI2	HP:0001627	Abnormal heart morphology
64446	DNAI2	HP:0005301	Persistent left superior vena cava
64446	DNAI2	HP:0000403	Recurrent otitis media
64446	DNAI2	HP:0000405	Conductive hearing impairment
64446	DNAI2	HP:0001719	Double outlet right ventricle
64446	DNAI2	HP:0011109	Chronic sinusitis
64446	DNAI2	HP:0011108	Recurrent sinusitis
64446	DNAI2	HP:0001746	Asplenia
64446	DNAI2	HP:0001748	Polysplenia
64446	DNAI2	HP:0001742	Nasal congestion
64446	DNAI2	HP:0005425	Recurrent sinopulmonary infections
64446	DNAI2	HP:0011274	Recurrent mycobacterial infections
64446	DNAI2	HP:0000510	Rod-cone dystrophy
64581	CLEC7A	HP:0100825	Cheilitis
64581	CLEC7A	HP:0001250	Seizure
64581	CLEC7A	HP:0001231	Abnormal fingernail morphology
64581	CLEC7A	HP:0008872	Feeding difficulties in infancy
64581	CLEC7A	HP:0000010	Recurrent urinary tract infections
64581	CLEC7A	HP:0000007	Autosomal recessive inheritance
64581	CLEC7A	HP:0000159	Abnormal lip morphology
64581	CLEC7A	HP:0000142	Abnormal vagina morphology
64581	CLEC7A	HP:0000153	Abnormality of the mouth
64581	CLEC7A	HP:0012115	Hepatitis
64581	CLEC7A	HP:0002719	Recurrent infections
64581	CLEC7A	HP:0002715	Abnormality of the immune system
64581	CLEC7A	HP:0002105	Hemoptysis
64581	CLEC7A	HP:0002205	Recurrent respiratory infections
64581	CLEC7A	HP:0008388	Abnormal toenail morphology
64581	CLEC7A	HP:0200034	Papule
64581	CLEC7A	HP:0200042	Skin ulcer
64581	CLEC7A	HP:0010783	Erythema
64581	CLEC7A	HP:0000682	Abnormal dental enamel morphology
64581	CLEC7A	HP:0004306	Abnormal endocardium morphology
64581	CLEC7A	HP:0004370	Abnormality of temperature regulation
64581	CLEC7A	HP:0012735	Cough
64581	CLEC7A	HP:0000790	Hematuria
64581	CLEC7A	HP:0000989	Pruritus
64581	CLEC7A	HP:0000988	Skin rash
64581	CLEC7A	HP:0000951	Abnormality of the skin
64581	CLEC7A	HP:0000962	Hyperkeratosis
64581	CLEC7A	HP:0001597	Abnormality of the nail
64581	CLEC7A	HP:0012203	Onychomycosis
64581	CLEC7A	HP:0012204	Recurrent vulvovaginal candidiasis
64581	CLEC7A	HP:0030016	Dyspareunia
64581	CLEC7A	HP:0000478	Abnormality of the eye
64581	CLEC7A	HP:0001821	Broad nail
64581	CLEC7A	HP:0000504	Abnormality of vision
64601	VPS16	HP:0002444	Hypothalamic hamartoma
64601	VPS16	HP:0007302	Bipolar affective disorder
64601	VPS16	HP:0001256	Intellectual disability, mild
64601	VPS16	HP:0001250	Seizure
64601	VPS16	HP:0002506	Diffuse cerebral atrophy
64601	VPS16	HP:0002505	Loss of ambulation
64601	VPS16	HP:0012048	Oromandibular dystonia
64601	VPS16	HP:0001332	Dystonia
64601	VPS16	HP:0000006	Autosomal dominant inheritance
64601	VPS16	HP:0003596	Middle age onset
64601	VPS16	HP:0100710	Impulsivity
64601	VPS16	HP:0002342	Intellectual disability, moderate
64601	VPS16	HP:0002356	Writer's cramp
64601	VPS16	HP:0003621	Juvenile onset
64601	VPS16	HP:0031959	Leg dystonia
64601	VPS16	HP:0031960	Arm dystonia
64601	VPS16	HP:0000718	Aggressive behavior
64601	VPS16	HP:0011463	Childhood onset
64601	VPS16	HP:0011462	Young adult onset
64601	VPS16	HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging
64601	VPS16	HP:0000473	Torticollis
64682	ANAPC1	HP:0001118	Juvenile cataract
64682	ANAPC1	HP:0003761	Calcinosis
64682	ANAPC1	HP:0001249	Intellectual disability
64682	ANAPC1	HP:0001263	Global developmental delay
64682	ANAPC1	HP:0007418	Alopecia totalis
64682	ANAPC1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
64682	ANAPC1	HP:0010978	Abnormality of immune system physiology
64682	ANAPC1	HP:0000026	Male hypogonadism
64682	ANAPC1	HP:0000028	Cryptorchidism
64682	ANAPC1	HP:0007556	Plantar hyperkeratosis
64682	ANAPC1	HP:0003995	Abnormality of the radial head
64682	ANAPC1	HP:0002671	Basal cell carcinoma
64682	ANAPC1	HP:0000007	Autosomal recessive inheritance
64682	ANAPC1	HP:0002669	Osteosarcoma
64682	ANAPC1	HP:0000164	Abnormality of the dentition
64682	ANAPC1	HP:0000135	Hypogonadism
64682	ANAPC1	HP:0002750	Delayed skeletal maturation
64682	ANAPC1	HP:0002014	Diarrhea
64682	ANAPC1	HP:0002013	Vomiting
64682	ANAPC1	HP:0040288	Nasogastric tube feeding
64682	ANAPC1	HP:0002164	Nail dysplasia
64682	ANAPC1	HP:0008209	Premature ovarian insufficiency
64682	ANAPC1	HP:0002223	Absent eyebrow
64682	ANAPC1	HP:0200102	Sparse or absent eyelashes
64682	ANAPC1	HP:0008404	Nail dystrophy
64682	ANAPC1	HP:0009700	Finger symphalangism
64682	ANAPC1	HP:0007018	Attention deficit hyperactivity disorder
64682	ANAPC1	HP:0001029	Poikiloderma
64682	ANAPC1	HP:0001041	Facial erythema
64682	ANAPC1	HP:0001010	Hypopigmentation of the skin
64682	ANAPC1	HP:0001009	Telangiectasia
64682	ANAPC1	HP:0004979	Metaphyseal sclerosis
64682	ANAPC1	HP:0100671	Abnormal trabecular bone morphology
64682	ANAPC1	HP:0009804	Tooth agenesis
64682	ANAPC1	HP:0200044	Porokeratosis
64682	ANAPC1	HP:0009803	Short phalanx of finger
64682	ANAPC1	HP:0020110	Bone fracture
64682	ANAPC1	HP:0001909	Leukemia
64682	ANAPC1	HP:0001903	Anemia
64682	ANAPC1	HP:0001915	Aplastic anemia
64682	ANAPC1	HP:0010049	Short metacarpal
64682	ANAPC1	HP:0000698	Conical tooth
64682	ANAPC1	HP:0000682	Abnormal dental enamel morphology
64682	ANAPC1	HP:0000684	Delayed eruption of teeth
64682	ANAPC1	HP:0000691	Microdontia
64682	ANAPC1	HP:0000670	Carious teeth
64682	ANAPC1	HP:0004322	Short stature
64682	ANAPC1	HP:0004334	Dermal atrophy
64682	ANAPC1	HP:0003065	Patellar hypoplasia
64682	ANAPC1	HP:0012719	Functional abnormality of the gastrointestinal tract
64682	ANAPC1	HP:0005775	Multiple skeletal anomalies
64682	ANAPC1	HP:0000821	Hypothyroidism
64682	ANAPC1	HP:0000957	Cafe-au-lait spot
64682	ANAPC1	HP:0000953	Hyperpigmentation of the skin
64682	ANAPC1	HP:0000962	Hyperkeratosis
64682	ANAPC1	HP:0000939	Osteoporosis
64682	ANAPC1	HP:0000938	Osteopenia
64682	ANAPC1	HP:0008070	Sparse hair
64682	ANAPC1	HP:0008066	Abnormal blistering of the skin
64682	ANAPC1	HP:0008069	Neoplasm of the skin
64682	ANAPC1	HP:0000282	Facial edema
64682	ANAPC1	HP:0006443	Patellar aplasia
64682	ANAPC1	HP:0002861	Melanoma
64682	ANAPC1	HP:0002860	Squamous cell carcinoma
64682	ANAPC1	HP:0002863	Myelodysplasia
64682	ANAPC1	HP:0031367	Metaphyseal striations
64682	ANAPC1	HP:0001518	Small for gestational age
64682	ANAPC1	HP:0001510	Growth delay
64682	ANAPC1	HP:0002970	Genu varum
64682	ANAPC1	HP:0004039	Abnormal ulnar metaphysis morphology
64682	ANAPC1	HP:0000403	Recurrent otitis media
64682	ANAPC1	HP:0000519	Developmental cataract
64682	ANAPC1	HP:0001816	Thin nail
64682	ANAPC1	HP:0000561	Absent eyelashes
64682	ANAPC1	HP:0001875	Neutropenia
64699	TMPRSS3	HP:0000007	Autosomal recessive inheritance
64699	TMPRSS3	HP:0003577	Congenital onset
64699	TMPRSS3	HP:0011463	Childhood onset
64699	TMPRSS3	HP:0000407	Sensorineural hearing impairment
64711	HS3ST6	HP:0002572	Episodic vomiting
64711	HS3ST6	HP:0012027	Laryngeal edema
64711	HS3ST6	HP:0007514	Edema of the dorsum of hands
64711	HS3ST6	HP:0000006	Autosomal dominant inheritance
64711	HS3ST6	HP:0031244	Swollen lip
64711	HS3ST6	HP:0002027	Abdominal pain
64711	HS3ST6	HP:0002014	Diarrhea
64711	HS3ST6	HP:0100665	Angioedema
64711	HS3ST6	HP:0000282	Facial edema
64780	MICAL1	HP:0007334	Bilateral tonic-clonic seizure with focal onset
64780	MICAL1	HP:0012005	Deja vu aura
64780	MICAL1	HP:0000006	Autosomal dominant inheritance
64780	MICAL1	HP:0002069	Bilateral tonic-clonic seizure
64780	MICAL1	HP:0003596	Middle age onset
64780	MICAL1	HP:0002266	Focal clonic seizure
64780	MICAL1	HP:0002384	Focal impaired awareness seizure
64780	MICAL1	HP:0002349	Focal aware seizure
64780	MICAL1	HP:0003621	Juvenile onset
64780	MICAL1	HP:0011462	Young adult onset
64780	MICAL1	HP:0032810	Focal sensory seizure with cephalic sensation
64780	MICAL1	HP:0032864	Focal aware sensory seizure with auditory features
64780	MICAL1	HP:0032759	Focal sensory seizure with vestibular features
64780	MICAL1	HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole
64780	MICAL1	HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
64780	MICAL1	HP:0011158	Focal sensory seizure with auditory features
64780	MICAL1	HP:0011161	Focal sensory seizure with olfactory features
64780	MICAL1	HP:0011165	Focal sensory seizure with visual features
64780	MICAL1	HP:0032898	Focal automatism seizure
64787	EPS8L2	HP:0000007	Autosomal recessive inheritance
64787	EPS8L2	HP:0000365	Hearing impairment
64788	LMF1	HP:0000007	Autosomal recessive inheritance
64788	LMF1	HP:0031290	Tuberous xanthoma
64788	LMF1	HP:0005978	Type II diabetes mellitus
64788	LMF1	HP:0002155	Hypertriglyceridemia
64788	LMF1	HP:0011462	Young adult onset
64788	LMF1	HP:0009125	Lipodystrophy
64788	LMF1	HP:0001733	Pancreatitis
64801	ARV1	HP:0002421	Poor head control
64801	ARV1	HP:0001298	Encephalopathy
64801	ARV1	HP:0001290	Generalized hypotonia
64801	ARV1	HP:0001276	Hypertonia
64801	ARV1	HP:0001273	Abnormal corpus callosum morphology
64801	ARV1	HP:0001268	Mental deterioration
64801	ARV1	HP:0001250	Seizure
64801	ARV1	HP:0001251	Ataxia
64801	ARV1	HP:0001249	Intellectual disability
64801	ARV1	HP:0001265	Hyporeflexia
64801	ARV1	HP:0001263	Global developmental delay
64801	ARV1	HP:0001257	Spasticity
64801	ARV1	HP:0002521	Hypsarrhythmia
64801	ARV1	HP:0002509	Limb hypertonia
64801	ARV1	HP:0001332	Dystonia
64801	ARV1	HP:0000007	Autosomal recessive inheritance
64801	ARV1	HP:0001337	Tremor
64801	ARV1	HP:0001336	Myoclonus
64801	ARV1	HP:0001315	Reduced tendon reflexes
64801	ARV1	HP:0002020	Gastroesophageal reflux
64801	ARV1	HP:0002063	Rigidity
64801	ARV1	HP:0002059	Cerebral atrophy
64801	ARV1	HP:0002133	Status epilepticus
64801	ARV1	HP:0002187	Intellectual disability, profound
64801	ARV1	HP:0003593	Infantile onset
64801	ARV1	HP:0100710	Impulsivity
64801	ARV1	HP:0200134	Epileptic encephalopathy
64801	ARV1	HP:0007018	Attention deficit hyperactivity disorder
64801	ARV1	HP:0011968	Feeding difficulties
64801	ARV1	HP:0002376	Developmental regression
64801	ARV1	HP:0002355	Difficulty walking
64801	ARV1	HP:0002317	Unsteady gait
64801	ARV1	HP:0010844	EEG with multifocal slow activity
64801	ARV1	HP:0100660	Dyskinesia
64801	ARV1	HP:0000639	Nystagmus
64801	ARV1	HP:0000648	Optic atrophy
64801	ARV1	HP:0000668	Hypodontia
64801	ARV1	HP:0004322	Short stature
64801	ARV1	HP:0004305	Involuntary movements
64801	ARV1	HP:0000750	Delayed speech and language development
64801	ARV1	HP:0000717	Autism
64801	ARV1	HP:0000708	Atypical behavior
64801	ARV1	HP:0011443	Abnormality of coordination
64801	ARV1	HP:0000252	Microcephaly
64801	ARV1	HP:0001558	Decreased fetal movement
64801	ARV1	HP:0001508	Failure to thrive
64801	ARV1	HP:0000348	High forehead
64801	ARV1	HP:0000494	Downslanted palpebral fissures
64801	ARV1	HP:0012444	Brain atrophy
64801	ARV1	HP:0012447	Abnormal myelination
64801	ARV1	HP:0000508	Ptosis
64801	ARV1	HP:0000504	Abnormality of vision
64801	ARV1	HP:0012547	Abnormal involuntary eye movements
64801	ARV1	HP:0000556	Retinal dystrophy
64801	ARV1	HP:0000546	Retinal degeneration
64802	NMNAT1	HP:0001141	Severely reduced visual acuity
64802	NMNAT1	HP:0001116	Macular coloboma
64802	NMNAT1	HP:0032286	Ultra-low vision with retained light perception
64802	NMNAT1	HP:0001272	Cerebellar atrophy
64802	NMNAT1	HP:0001250	Seizure
64802	NMNAT1	HP:0001252	Hypotonia
64802	NMNAT1	HP:0001251	Ataxia
64802	NMNAT1	HP:0001249	Intellectual disability
64802	NMNAT1	HP:0001263	Global developmental delay
64802	NMNAT1	HP:0007401	Macular atrophy
64802	NMNAT1	HP:0002655	Spondyloepiphyseal dysplasia
64802	NMNAT1	HP:0000007	Autosomal recessive inheritance
64802	NMNAT1	HP:0002650	Scoliosis
64802	NMNAT1	HP:0000154	Wide mouth
64802	NMNAT1	HP:0001483	Eye poking
64802	NMNAT1	HP:0007663	Reduced visual acuity
64802	NMNAT1	HP:0008936	Axial hypotonia
64802	NMNAT1	HP:0002750	Delayed skeletal maturation
64802	NMNAT1	HP:0002084	Encephalocele
64802	NMNAT1	HP:0002079	Hypoplasia of the corpus callosum
64802	NMNAT1	HP:0002059	Cerebral atrophy
64802	NMNAT1	HP:0003429	CNS hypomyelination
64802	NMNAT1	HP:0002188	Delayed CNS myelination
64802	NMNAT1	HP:0010582	Irregular epiphyses
64802	NMNAT1	HP:0003593	Infantile onset
64802	NMNAT1	HP:0002273	Tetraparesis
64802	NMNAT1	HP:0002269	Abnormality of neuronal migration
64802	NMNAT1	HP:0032027	Retinal dots
64802	NMNAT1	HP:0002352	Leukoencephalopathy
64802	NMNAT1	HP:0002318	Cervical myelopathy
64802	NMNAT1	HP:0100660	Dyskinesia
64802	NMNAT1	HP:0200056	Macular scar
64802	NMNAT1	HP:0008499	High hypermetropia
64802	NMNAT1	HP:0032123	Ultra-low vision
64802	NMNAT1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
64802	NMNAT1	HP:0000639	Nystagmus
64802	NMNAT1	HP:0000648	Optic atrophy
64802	NMNAT1	HP:0000613	Photophobia
64802	NMNAT1	HP:0000662	Nyctalopia
64802	NMNAT1	HP:0000664	Synophrys
64802	NMNAT1	HP:0000666	Horizontal nystagmus
64802	NMNAT1	HP:0004322	Short stature
64802	NMNAT1	HP:0005667	Os odontoideum
64802	NMNAT1	HP:0006958	Abnormal auditory evoked potentials
64802	NMNAT1	HP:0004374	Hemiplegia/hemiparesis
64802	NMNAT1	HP:0031936	Delayed ability to walk
64802	NMNAT1	HP:0012795	Abnormal optic disc morphology
64802	NMNAT1	HP:0011463	Childhood onset
64802	NMNAT1	HP:0012765	Widened cerebellar subarachnoid space
64802	NMNAT1	HP:0040079	Irregular dentition
64802	NMNAT1	HP:0004586	Biconcave vertebral bodies
64802	NMNAT1	HP:0007703	Abnormality of retinal pigmentation
64802	NMNAT1	HP:0000280	Coarse facial features
64802	NMNAT1	HP:0007737	Bone spicule pigmentation of the retina
64802	NMNAT1	HP:0001510	Growth delay
64802	NMNAT1	HP:0007843	Attenuation of retinal blood vessels
64802	NMNAT1	HP:0007814	Retinal pigment epithelial mottling
64802	NMNAT1	HP:0000365	Hearing impairment
64802	NMNAT1	HP:0011003	High myopia
64802	NMNAT1	HP:0031609	Geographic atrophy
64802	NMNAT1	HP:0007988	Macular hypopigmentation
64802	NMNAT1	HP:0000407	Sensorineural hearing impairment
64802	NMNAT1	HP:0005280	Depressed nasal bridge
64802	NMNAT1	HP:0012444	Brain atrophy
64802	NMNAT1	HP:0000518	Cataract
64802	NMNAT1	HP:0000512	Abnormal electroretinogram
64802	NMNAT1	HP:0000505	Visual impairment
64802	NMNAT1	HP:0000577	Exotropia
64802	NMNAT1	HP:0000563	Keratoconus
64802	NMNAT1	HP:0000540	Hypermetropia
64802	NMNAT1	HP:0000550	Undetectable electroretinogram
64802	NMNAT1	HP:0000551	Color vision defect
64802	NMNAT1	HP:0000546	Retinal degeneration
64802	NMNAT1	HP:0000543	Optic disc pallor
64805	P2RY12	HP:0000007	Autosomal recessive inheritance
64805	P2RY12	HP:0004866	Impaired ADP-induced platelet aggregation
64805	P2RY12	HP:0004846	Prolonged bleeding after surgery
64805	P2RY12	HP:0001934	Persistent bleeding after trauma
64805	P2RY12	HP:0000978	Bruising susceptibility
64805	P2RY12	HP:0031364	Ecchymosis
64805	P2RY12	HP:0000421	Epistaxis
64805	P2RY12	HP:0001892	Abnormal bleeding
64834	ELOVL1	HP:0001133	Constriction of peripheral visual field
64834	ELOVL1	HP:0001270	Motor delay
64834	ELOVL1	HP:0001251	Ataxia
64834	ELOVL1	HP:0001249	Intellectual disability
64834	ELOVL1	HP:0001260	Dysarthria
64834	ELOVL1	HP:0001258	Spastic paraplegia
64834	ELOVL1	HP:0001257	Spasticity
64834	ELOVL1	HP:0001348	Brisk reflexes
64834	ELOVL1	HP:0000011	Neurogenic bladder
64834	ELOVL1	HP:0001337	Tremor
64834	ELOVL1	HP:0000006	Autosomal dominant inheritance
64834	ELOVL1	HP:0001310	Dysmetria
64834	ELOVL1	HP:0007663	Reduced visual acuity
64834	ELOVL1	HP:0003487	Babinski sign
64834	ELOVL1	HP:0003429	CNS hypomyelination
64834	ELOVL1	HP:0003593	Infantile onset
64834	ELOVL1	HP:0001036	Parakeratosis
64834	ELOVL1	HP:0025092	Epidermal acanthosis
64834	ELOVL1	HP:0000639	Nystagmus
64834	ELOVL1	HP:0000613	Photophobia
64834	ELOVL1	HP:0000958	Dry skin
64834	ELOVL1	HP:0000956	Acanthosis nigricans
64834	ELOVL1	HP:0000962	Hyperkeratosis
64834	ELOVL1	HP:0008064	Ichthyosis
64834	ELOVL1	HP:0001583	Rotary nystagmus
64834	ELOVL1	HP:0000217	Xerostomia
64834	ELOVL1	HP:0000407	Sensorineural hearing impairment
64834	ELOVL1	HP:0000543	Optic disc pallor
64837	KLC2	HP:0001270	Motor delay
64837	KLC2	HP:0001260	Dysarthria
64837	KLC2	HP:0001258	Spastic paraplegia
64837	KLC2	HP:0002540	Inability to walk
64837	KLC2	HP:0001371	Flexion contracture
64837	KLC2	HP:0000007	Autosomal recessive inheritance
64837	KLC2	HP:0002650	Scoliosis
64837	KLC2	HP:0002600	Hyporeflexia of lower limbs
64837	KLC2	HP:0008944	Distal lower limb amyotrophy
64837	KLC2	HP:0003390	Sensory axonal neuropathy
64837	KLC2	HP:0002071	Abnormality of extrapyramidal motor function
64837	KLC2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
64837	KLC2	HP:0003477	Peripheral axonal neuropathy
64837	KLC2	HP:0003487	Babinski sign
64837	KLC2	HP:0003438	Absent Achilles reflex
64837	KLC2	HP:0002194	Delayed gross motor development
64837	KLC2	HP:0002166	Impaired vibration sensation in the lower limbs
64837	KLC2	HP:0002267	Exaggerated startle response
64837	KLC2	HP:0003593	Infantile onset
64837	KLC2	HP:0007020	Progressive spastic paraplegia
64837	KLC2	HP:0007002	Motor axonal neuropathy
64837	KLC2	HP:0007054	Proximal hyperreflexia
64837	KLC2	HP:0003693	Distal amyotrophy
64837	KLC2	HP:0003676	Progressive
64837	KLC2	HP:0002355	Difficulty walking
64837	KLC2	HP:0000639	Nystagmus
64837	KLC2	HP:0000648	Optic atrophy
64837	KLC2	HP:0011463	Childhood onset
64837	KLC2	HP:0011448	Ankle clonus
64837	KLC2	HP:0000975	Hyperhidrosis
64837	KLC2	HP:0002828	Multiple joint contractures
64837	KLC2	HP:0002808	Kyphosis
64837	KLC2	HP:0001761	Pes cavus
64837	KLC2	HP:0000543	Optic disc pallor
64840	PORCN	HP:0001171	Split hand
64840	PORCN	HP:0001180	Hand oligodactyly
64840	PORCN	HP:0001156	Brachydactyly
64840	PORCN	HP:0001162	Postaxial hand polydactyly
64840	PORCN	HP:0001161	Hand polydactyly
64840	PORCN	HP:0002475	Myelomeningocele
64840	PORCN	HP:0002414	Spina bifida
64840	PORCN	HP:0001274	Agenesis of corpus callosum
64840	PORCN	HP:0001249	Intellectual disability
64840	PORCN	HP:0002557	Hypoplastic nipples
64840	PORCN	HP:0002558	Supernumerary nipple
64840	PORCN	HP:0002566	Intestinal malrotation
64840	PORCN	HP:0006101	Finger syndactyly
64840	PORCN	HP:0008678	Renal hypoplasia/aplasia
64840	PORCN	HP:0006097	3-4 finger syndactyly
64840	PORCN	HP:0000085	Horseshoe kidney
64840	PORCN	HP:0000066	Labial hypoplasia
64840	PORCN	HP:0000060	Clitoral hypoplasia
64840	PORCN	HP:0000073	Ureteral duplication
64840	PORCN	HP:0001374	Congenital hip dislocation
64840	PORCN	HP:0001388	Joint laxity
64840	PORCN	HP:0000023	Inguinal hernia
64840	PORCN	HP:0000028	Cryptorchidism
64840	PORCN	HP:0007546	Linear hyperpigmentation
64840	PORCN	HP:0008839	Hypoplastic pelvis
64840	PORCN	HP:0007510	Focal dermal aplasia/hypoplasia
64840	PORCN	HP:0000003	Multicystic kidney dysplasia
64840	PORCN	HP:0002650	Scoliosis
64840	PORCN	HP:0000164	Abnormality of the dentition
64840	PORCN	HP:0000175	Cleft palate
64840	PORCN	HP:0001482	Subcutaneous nodule
64840	PORCN	HP:0007676	Hypoplasia of the iris
64840	PORCN	HP:0007663	Reduced visual acuity
64840	PORCN	HP:0006297	Enamel hypoplasia
64840	PORCN	HP:0007588	Reticular hyperpigmentation
64840	PORCN	HP:0000126	Hydronephrosis
64840	PORCN	HP:0001423	X-linked dominant inheritance
64840	PORCN	HP:0002020	Gastroesophageal reflux
64840	PORCN	HP:0002036	Hiatus hernia
64840	PORCN	HP:0002027	Abdominal pain
64840	PORCN	HP:0100543	Cognitive impairment
64840	PORCN	HP:0100560	Upper limb asymmetry
64840	PORCN	HP:0100559	Lower limb asymmetry
64840	PORCN	HP:0100585	Telangiectasia of the skin
64840	PORCN	HP:0005930	Abnormal epiphysis morphology
64840	PORCN	HP:0002164	Nail dysplasia
64840	PORCN	HP:0100490	Camptodactyly of finger
64840	PORCN	HP:0011847	Giant cell tumor of bone
64840	PORCN	HP:0003577	Congenital onset
64840	PORCN	HP:0002247	Duodenal atresia
64840	PORCN	HP:0002232	Patchy alopecia
64840	PORCN	HP:0008404	Nail dystrophy
64840	PORCN	HP:0100790	Hernia
64840	PORCN	HP:0002299	Brittle hair
64840	PORCN	HP:0001010	Hypopigmentation of the skin
64840	PORCN	HP:0001009	Telangiectasia
64840	PORCN	HP:0001018	Abnormal palmar dermatoglyphics
64840	PORCN	HP:0001000	Abnormality of skin pigmentation
64840	PORCN	HP:0200036	Skin nodule
64840	PORCN	HP:0100670	Coarse metaphyseal trabecularization
64840	PORCN	HP:0010807	Open bite
64840	PORCN	HP:0009804	Tooth agenesis
64840	PORCN	HP:0009803	Short phalanx of finger
64840	PORCN	HP:0001083	Ectopia lentis
64840	PORCN	HP:0010783	Erythema
64840	PORCN	HP:0010740	Osteopathia striata
64840	PORCN	HP:0010743	Short metatarsal
64840	PORCN	HP:0002308	Chiari malformation
64840	PORCN	HP:0004930	Abnormality of the pulmonary vasculature
64840	PORCN	HP:0000639	Nystagmus
64840	PORCN	HP:0000648	Optic atrophy
64840	PORCN	HP:0000612	Iris coloboma
64840	PORCN	HP:0010049	Short metacarpal
64840	PORCN	HP:0010044	Short 4th metacarpal
64840	PORCN	HP:0000682	Abnormal dental enamel morphology
64840	PORCN	HP:0000684	Delayed eruption of teeth
64840	PORCN	HP:0000677	Oligodontia
64840	PORCN	HP:0000689	Dental malocclusion
64840	PORCN	HP:0000668	Hypodontia
64840	PORCN	HP:0004322	Short stature
64840	PORCN	HP:0004334	Dermal atrophy
64840	PORCN	HP:0012733	Macule
64840	PORCN	HP:0012740	Papilloma
64840	PORCN	HP:0009124	Abnormal adipose tissue morphology
64840	PORCN	HP:0000773	Short ribs
64840	PORCN	HP:0000776	Congenital diaphragmatic hernia
64840	PORCN	HP:0003191	Cleft ala nasi
64840	PORCN	HP:0000894	Short clavicles
64840	PORCN	HP:0045026	Abnormal mediastinum morphology
64840	PORCN	HP:0003298	Spina bifida occulta
64840	PORCN	HP:0033001	Laryngeal papilloma
64840	PORCN	HP:0000963	Thin skin
64840	PORCN	HP:0008070	Sparse hair
64840	PORCN	HP:0008065	Aplasia/Hypoplasia of the skin
64840	PORCN	HP:0009381	Short finger
64840	PORCN	HP:0001597	Abnormality of the nail
64840	PORCN	HP:0001596	Alopecia
64840	PORCN	HP:0000238	Hydrocephalus
64840	PORCN	HP:0000252	Microcephaly
64840	PORCN	HP:0001545	Anteriorly placed anus
64840	PORCN	HP:0001540	Diastasis recti
64840	PORCN	HP:0001537	Umbilical hernia
64840	PORCN	HP:0001539	Omphalocele
64840	PORCN	HP:0000204	Cleft upper lip
64840	PORCN	HP:0030037	Bifid ureter
64840	PORCN	HP:0006554	Acute hepatic failure
64840	PORCN	HP:0006482	Abnormality of dental morphology
64840	PORCN	HP:0000365	Hearing impairment
64840	PORCN	HP:0000370	Abnormality of the middle ear
64840	PORCN	HP:0000369	Low-set ears
64840	PORCN	HP:0001671	Abnormal cardiac septum morphology
64840	PORCN	HP:0001643	Patent ductus arteriosus
64840	PORCN	HP:0000324	Facial asymmetry
64840	PORCN	HP:0001629	Ventricular septal defect
64840	PORCN	HP:0000307	Pointed chin
64840	PORCN	HP:0007957	Corneal opacity
64840	PORCN	HP:0006608	Midclavicular hypoplasia
64840	PORCN	HP:0006638	Midclavicular aplasia
64840	PORCN	HP:0000402	Stenosis of the external auditory canal
64840	PORCN	HP:0000486	Strabismus
64840	PORCN	HP:0000455	Broad nasal tip
64840	PORCN	HP:0001770	Toe syndactyly
64840	PORCN	HP:0000446	Narrow nasal bridge
64840	PORCN	HP:0000410	Mixed hearing impairment
64840	PORCN	HP:0006703	Aplasia/Hypoplasia of the lungs
64840	PORCN	HP:0001849	Foot oligodactyly
64840	PORCN	HP:0000528	Anophthalmia
64840	PORCN	HP:0000526	Aniridia
64840	PORCN	HP:0001829	Foot polydactyly
64840	PORCN	HP:0001839	Split foot
64840	PORCN	HP:0000505	Visual impairment
64840	PORCN	HP:0001807	Ridged nail
64840	PORCN	HP:0001802	Absent toenail
64840	PORCN	HP:0001817	Absent fingernail
64840	PORCN	HP:0000568	Microphthalmia
64840	PORCN	HP:0000567	Chorioretinal coloboma
64849	SLC13A3	HP:0002490	Increased CSF lactate
64849	SLC13A3	HP:0032272	Elevated urinary N-acetylaspartic acid level
64849	SLC13A3	HP:0001290	Generalized hypotonia
64849	SLC13A3	HP:0001272	Cerebellar atrophy
64849	SLC13A3	HP:0001251	Ataxia
64849	SLC13A3	HP:0001260	Dysarthria
64849	SLC13A3	HP:0002500	Abnormal cerebral white matter morphology
64849	SLC13A3	HP:0000007	Autosomal recessive inheritance
64849	SLC13A3	HP:0001310	Dysmetria
64849	SLC13A3	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
64849	SLC13A3	HP:0002344	Progressive neurologic deterioration
64849	SLC13A3	HP:0002329	Drowsiness
64849	SLC13A3	HP:0003621	Juvenile onset
64849	SLC13A3	HP:0011463	Childhood onset
64849	SLC13A3	HP:0033092	Increased urine succinate level
64849	SLC13A3	HP:0012229	CSF pleocytosis
64849	SLC13A3	HP:0012402	Increased urine alpha-ketoglutarate concentration
64856	VWA1	HP:0007210	Lower limb amyotrophy
64856	VWA1	HP:0001252	Hypotonia
64856	VWA1	HP:0001265	Hyporeflexia
64856	VWA1	HP:0001371	Flexion contracture
64856	VWA1	HP:0000007	Autosomal recessive inheritance
64856	VWA1	HP:0001308	Tongue fasciculations
64856	VWA1	HP:0008994	Proximal muscle weakness in lower limbs
64856	VWA1	HP:0008997	Proximal muscle weakness in upper limbs
64856	VWA1	HP:0008959	Distal upper limb muscle weakness
64856	VWA1	HP:0003326	Myalgia
64856	VWA1	HP:0003458	EMG: myopathic abnormalities
64856	VWA1	HP:0003401	Paresthesia
64856	VWA1	HP:0007002	Motor axonal neuropathy
64856	VWA1	HP:0003691	Scapular winging
64856	VWA1	HP:0002359	Frequent falls
64856	VWA1	HP:0010830	Impaired tactile sensation
64856	VWA1	HP:0009053	Distal lower limb muscle weakness
64856	VWA1	HP:0009027	Foot dorsiflexor weakness
64856	VWA1	HP:0011463	Childhood onset
64856	VWA1	HP:0001762	Talipes equinovarus
64856	VWA1	HP:0001761	Pes cavus
64857	PLEKHG2	HP:0010864	Intellectual disability, severe
64857	PLEKHG2	HP:0002415	Leukodystrophy
64857	PLEKHG2	HP:0001290	Generalized hypotonia
64857	PLEKHG2	HP:0001250	Seizure
64857	PLEKHG2	HP:0001263	Global developmental delay
64857	PLEKHG2	HP:0001332	Dystonia
64857	PLEKHG2	HP:0000007	Autosomal recessive inheritance
64857	PLEKHG2	HP:0003593	Infantile onset
64857	PLEKHG2	HP:0007204	Diffuse white matter abnormalities
64857	PLEKHG2	HP:0000639	Nystagmus
64857	PLEKHG2	HP:0012736	Profound global developmental delay
64857	PLEKHG2	HP:0000252	Microcephaly
64857	PLEKHG2	HP:0005484	Secondary microcephaly
64858	DCLRE1B	HP:0001272	Cerebellar atrophy
64858	DCLRE1B	HP:0010976	B lymphocytopenia
64858	DCLRE1B	HP:0000007	Autosomal recessive inheritance
64858	DCLRE1B	HP:0002745	Oral leukoplakia
64858	DCLRE1B	HP:0002721	Immunodeficiency
64858	DCLRE1B	HP:0002037	Inflammation of the large intestine
64858	DCLRE1B	HP:0002043	Esophageal stricture
64858	DCLRE1B	HP:0033256	Pancolitis
64858	DCLRE1B	HP:0003593	Infantile onset
64858	DCLRE1B	HP:0002209	Sparse scalp hair
64858	DCLRE1B	HP:0008404	Nail dystrophy
64858	DCLRE1B	HP:0003621	Juvenile onset
64858	DCLRE1B	HP:0005528	Bone marrow hypocellularity
64858	DCLRE1B	HP:0000601	Hypotelorism
64858	DCLRE1B	HP:0000750	Delayed speech and language development
64858	DCLRE1B	HP:0003221	Chromosomal breakage induced by crosslinking agents
64858	DCLRE1B	HP:0040218	Reduced natural killer cell count
64858	DCLRE1B	HP:0000967	Petechiae
64858	DCLRE1B	HP:0001511	Intrauterine growth retardation
64858	DCLRE1B	HP:0001622	Premature birth
64858	DCLRE1B	HP:0001876	Pancytopenia
64859	NABP1	HP:0031035	Chronic infection
64859	NABP1	HP:0031020	Bone marrow hypercellularity
64859	NABP1	HP:0001324	Muscle weakness
64859	NABP1	HP:0002653	Bone pain
64859	NABP1	HP:0025420	Diffuse alveolar hemorrhage
64859	NABP1	HP:0031245	Productive cough
64859	NABP1	HP:0002716	Lymphadenopathy
64859	NABP1	HP:0002027	Abdominal pain
64859	NABP1	HP:0030955	Alcoholism
64859	NABP1	HP:0002039	Anorexia
64859	NABP1	HP:0011900	Hypofibrinogenemia
64859	NABP1	HP:0100758	Gangrene
64859	NABP1	HP:0002321	Vertigo
64859	NABP1	HP:0100608	Metrorrhagia
64859	NABP1	HP:0005521	Disseminated intravascular coagulation
64859	NABP1	HP:0001974	Leukocytosis
64859	NABP1	HP:0001945	Fever
64859	NABP1	HP:0001903	Anemia
64859	NABP1	HP:0000790	Hematuria
64859	NABP1	HP:0010280	Stomatitis
64859	NABP1	HP:0000979	Purpura
64859	NABP1	HP:0000978	Bruising susceptibility
64859	NABP1	HP:0000967	Petechiae
64859	NABP1	HP:0000212	Gingival overgrowth
64859	NABP1	HP:0002875	Exertional dyspnea
64859	NABP1	HP:0000225	Gingival bleeding
64859	NABP1	HP:0031364	Ecchymosis
64859	NABP1	HP:0012378	Fatigue
64859	NABP1	HP:0030140	Oral cavity bleeding
64859	NABP1	HP:0000421	Epistaxis
64859	NABP1	HP:0001824	Weight loss
64859	NABP1	HP:0001892	Abnormal bleeding
64859	NABP1	HP:0001882	Leukopenia
64859	NABP1	HP:0001873	Thrombocytopenia
64859	NABP1	HP:0001876	Pancytopenia
64859	NABP1	HP:0001875	Neutropenia
64902	AGXT2	HP:0032480	Beta-aminoisobutyric aciduria
64902	AGXT2	HP:0000007	Autosomal recessive inheritance
64919	BCL11B	HP:0003765	Psoriasiform dermatitis
64919	BCL11B	HP:0001290	Generalized hypotonia
64919	BCL11B	HP:0001274	Agenesis of corpus callosum
64919	BCL11B	HP:0001270	Motor delay
64919	BCL11B	HP:0001250	Seizure
64919	BCL11B	HP:0001252	Hypotonia
64919	BCL11B	HP:0001249	Intellectual disability
64919	BCL11B	HP:0001263	Global developmental delay
64919	BCL11B	HP:0001257	Spasticity
64919	BCL11B	HP:0410378	Decreased proportion of naive CD4 T cells
64919	BCL11B	HP:0002510	Spastic tetraplegia
64919	BCL11B	HP:0001344	Absent speech
64919	BCL11B	HP:0000006	Autosomal dominant inheritance
64919	BCL11B	HP:0002645	Wormian bones
64919	BCL11B	HP:0000160	Narrow mouth
64919	BCL11B	HP:0002719	Recurrent infections
64919	BCL11B	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
64919	BCL11B	HP:0002099	Asthma
64919	BCL11B	HP:0002058	Myopathic facies
64919	BCL11B	HP:0003593	Infantile onset
64919	BCL11B	HP:0003577	Congenital onset
64919	BCL11B	HP:0011968	Feeding difficulties
64919	BCL11B	HP:0001007	Hirsutism
64919	BCL11B	HP:0002317	Unsteady gait
64919	BCL11B	HP:0000677	Oligodontia
64919	BCL11B	HP:0000695	Natal tooth
64919	BCL11B	HP:0000691	Microdontia
64919	BCL11B	HP:0000668	Hypodontia
64919	BCL11B	HP:0031936	Delayed ability to walk
64919	BCL11B	HP:0012745	Short palpebral fissure
64919	BCL11B	HP:0000739	Anxiety
64919	BCL11B	HP:0000750	Delayed speech and language development
64919	BCL11B	HP:0000729	Autistic behavior
64919	BCL11B	HP:0004415	Pulmonary artery stenosis
64919	BCL11B	HP:0004430	Severe combined immunodeficiency
64919	BCL11B	HP:0034295	Reduced cerebral white matter volume
64919	BCL11B	HP:0045074	Thin eyebrow
64919	BCL11B	HP:0000973	Cutis laxa
64919	BCL11B	HP:0000286	Epicanthus
64919	BCL11B	HP:0000219	Thin upper lip vermilion
64919	BCL11B	HP:0001537	Umbilical hernia
64919	BCL11B	HP:0000358	Posteriorly rotated ears
64919	BCL11B	HP:0000343	Long philtrum
64919	BCL11B	HP:0000347	Micrognathia
64919	BCL11B	HP:0000316	Hypertelorism
64919	BCL11B	HP:0000322	Short philtrum
64919	BCL11B	HP:0031545	Abnormally low T cell receptor excision circle level
64919	BCL11B	HP:0000448	Prominent nose
64919	BCL11B	HP:0005403	T lymphocytopenia
64919	BCL11B	HP:0000582	Upslanted palpebral fissure
64919	BCL11B	HP:0001888	Lymphopenia
64919	BCL11B	HP:0000540	Hypermetropia
64919	BCL11B	HP:0001880	Eosinophilia
64919	BCL11B	HP:0000545	Myopia
65018	PINK1	HP:0025269	Panic attack
65018	PINK1	HP:0002578	Gastroparesis
65018	PINK1	HP:0001257	Spasticity
65018	PINK1	HP:0001347	Hyperreflexia
65018	PINK1	HP:0001332	Dystonia
65018	PINK1	HP:0000012	Urinary urgency
65018	PINK1	HP:0000007	Autosomal recessive inheritance
65018	PINK1	HP:0001337	Tremor
65018	PINK1	HP:0001300	Parkinsonism
65018	PINK1	HP:0002018	Nausea
65018	PINK1	HP:0002019	Constipation
65018	PINK1	HP:0040307	Male sexual dysfunction
65018	PINK1	HP:0002014	Diarrhea
65018	PINK1	HP:0100543	Cognitive impairment
65018	PINK1	HP:0002067	Bradykinesia
65018	PINK1	HP:0003394	Muscle spasm
65018	PINK1	HP:0002063	Rigidity
65018	PINK1	HP:0002141	Gait imbalance
65018	PINK1	HP:0002172	Postural instability
65018	PINK1	HP:0003593	Infantile onset
65018	PINK1	HP:0100710	Impulsivity
65018	PINK1	HP:0100785	Insomnia
65018	PINK1	HP:0003677	Slowly progressive
65018	PINK1	HP:0002322	Resting tremor
65018	PINK1	HP:0100660	Dyskinesia
65018	PINK1	HP:0000651	Diplopia
65018	PINK1	HP:0000738	Hallucinations
65018	PINK1	HP:0000739	Anxiety
65018	PINK1	HP:0000736	Short attention span
65018	PINK1	HP:0000735	Impaired social interactions
65018	PINK1	HP:0000741	Apathy
65018	PINK1	HP:0000716	Depression
65018	PINK1	HP:0000713	Agitation
65018	PINK1	HP:0000727	Frontal lobe dementia
65018	PINK1	HP:0000726	Dementia
65018	PINK1	HP:0004409	Hyposmia
65018	PINK1	HP:0030014	Female sexual dysfunction
65018	PINK1	HP:0012332	Abnormal autonomic nervous system physiology
65018	PINK1	HP:0012452	Restless legs
65018	PINK1	HP:0000551	Color vision defect
65055	REEP1	HP:0002483	Bulbar signs
65055	REEP1	HP:0002495	Impaired vibratory sensation
65055	REEP1	HP:0002460	Distal muscle weakness
65055	REEP1	HP:0001276	Hypertonia
65055	REEP1	HP:0001288	Gait disturbance
65055	REEP1	HP:0001285	Spastic tetraparesis
65055	REEP1	HP:0001252	Hypotonia
65055	REEP1	HP:0001265	Hyporeflexia
65055	REEP1	HP:0001260	Dysarthria
65055	REEP1	HP:0001263	Global developmental delay
65055	REEP1	HP:0001258	Spastic paraplegia
65055	REEP1	HP:0033685	Fiber type grouping
65055	REEP1	HP:0007350	Hyperreflexia in upper limbs
65055	REEP1	HP:0007340	Lower limb muscle weakness
65055	REEP1	HP:0001348	Brisk reflexes
65055	REEP1	HP:0001347	Hyperreflexia
65055	REEP1	HP:0031189	Wrist drop
65055	REEP1	HP:0000012	Urinary urgency
65055	REEP1	HP:0000007	Autosomal recessive inheritance
65055	REEP1	HP:0000006	Autosomal dominant inheritance
65055	REEP1	HP:0012179	Craniofacial dystonia
65055	REEP1	HP:0008994	Proximal muscle weakness in lower limbs
65055	REEP1	HP:0008956	Proximal lower limb amyotrophy
65055	REEP1	HP:0002015	Dysphagia
65055	REEP1	HP:0011808	Decreased patellar reflex
65055	REEP1	HP:0002098	Respiratory distress
65055	REEP1	HP:0002064	Spastic gait
65055	REEP1	HP:0003392	First dorsal interossei muscle weakness
65055	REEP1	HP:0002061	Lower limb spasticity
65055	REEP1	HP:0003393	Thenar muscle atrophy
65055	REEP1	HP:0008112	Plantar flexion contracture
65055	REEP1	HP:0011727	Peroneal muscle weakness
65055	REEP1	HP:0003477	Peripheral axonal neuropathy
65055	REEP1	HP:0003487	Babinski sign
65055	REEP1	HP:0003484	Upper limb muscle weakness
65055	REEP1	HP:0003431	Decreased motor nerve conduction velocity
65055	REEP1	HP:0003426	First dorsal interossei muscle atrophy
65055	REEP1	HP:0003427	Thenar muscle weakness
65055	REEP1	HP:0003438	Absent Achilles reflex
65055	REEP1	HP:0003435	Cold-induced hand cramps
65055	REEP1	HP:0003596	Middle age onset
65055	REEP1	HP:0003577	Congenital onset
65055	REEP1	HP:0011948	Recurrent acute respiratory tract infection
65055	REEP1	HP:0002395	Lower limb hyperreflexia
65055	REEP1	HP:0003693	Distal amyotrophy
65055	REEP1	HP:0002359	Frequent falls
65055	REEP1	HP:0002376	Developmental regression
65055	REEP1	HP:0002355	Difficulty walking
65055	REEP1	HP:0002317	Unsteady gait
65055	REEP1	HP:0010831	Impaired proprioception
65055	REEP1	HP:0009830	Peripheral neuropathy
65055	REEP1	HP:0003621	Juvenile onset
65055	REEP1	HP:0007178	Motor polyneuropathy
65055	REEP1	HP:0009053	Distal lower limb muscle weakness
65055	REEP1	HP:0009046	Difficulty running
65055	REEP1	HP:0009049	Peroneal muscle atrophy
65055	REEP1	HP:0009027	Foot dorsiflexor weakness
65055	REEP1	HP:0005612	Arthrogryposis-like hand anomaly
65055	REEP1	HP:0005684	Distal arthrogryposis
65055	REEP1	HP:0011463	Childhood onset
65055	REEP1	HP:0011462	Young adult onset
65055	REEP1	HP:0011448	Ankle clonus
65055	REEP1	HP:0009110	Diaphragmatic eventration
65055	REEP1	HP:0040078	Axonal degeneration
65055	REEP1	HP:0003202	Skeletal muscle atrophy
65055	REEP1	HP:0040131	Abnormal motor nerve conduction velocity
65055	REEP1	HP:0008081	Pes valgus
65055	REEP1	HP:0000218	High palate
65055	REEP1	HP:0030207	Paradoxical respiration
65055	REEP1	HP:0006597	Diaphragmatic paralysis
65055	REEP1	HP:0002936	Distal sensory impairment
65055	REEP1	HP:0030237	Hand muscle weakness
65055	REEP1	HP:0001765	Hammertoe
65055	REEP1	HP:0001762	Talipes equinovarus
65055	REEP1	HP:0001761	Pes cavus
65055	REEP1	HP:0025708	Early young adult onset
65057	ACD	HP:0003764	Nevus
65057	ACD	HP:0001276	Hypertonia
65057	ACD	HP:0001251	Ataxia
65057	ACD	HP:0001249	Intellectual disability
65057	ACD	HP:0001265	Hyporeflexia
65057	ACD	HP:0001263	Global developmental delay
65057	ACD	HP:0007440	Generalized hyperpigmentation
65057	ACD	HP:0007392	Excessive wrinkled skin
65057	ACD	HP:0002514	Cerebral calcification
65057	ACD	HP:0002664	Neoplasm
65057	ACD	HP:0000007	Autosomal recessive inheritance
65057	ACD	HP:0000006	Autosomal dominant inheritance
65057	ACD	HP:0001321	Cerebellar hypoplasia
65057	ACD	HP:0000164	Abnormality of the dentition
65057	ACD	HP:0001480	Freckling
65057	ACD	HP:0002745	Oral leukoplakia
65057	ACD	HP:0002721	Immunodeficiency
65057	ACD	HP:0002071	Abnormality of extrapyramidal motor function
65057	ACD	HP:0010450	Esophageal stenosis
65057	ACD	HP:0002120	Cerebral cortical atrophy
65057	ACD	HP:0002119	Ventriculomegaly
65057	ACD	HP:0003581	Adult onset
65057	ACD	HP:0002216	Premature graying of hair
65057	ACD	HP:0002209	Sparse scalp hair
65057	ACD	HP:0100763	Abnormality of the lymphatic system
65057	ACD	HP:0008404	Nail dystrophy
65057	ACD	HP:0005528	Bone marrow hypocellularity
65057	ACD	HP:0001928	Abnormality of coagulation
65057	ACD	HP:0001903	Anemia
65057	ACD	HP:0001915	Aplastic anemia
65057	ACD	HP:0011358	Generalized hypopigmentation of hair
65057	ACD	HP:0004322	Short stature
65057	ACD	HP:0004334	Dermal atrophy
65057	ACD	HP:0100013	Neoplasm of the breast
65057	ACD	HP:0000958	Dry skin
65057	ACD	HP:0001595	Abnormal hair morphology
65057	ACD	HP:0031413	Short telomere length
65057	ACD	HP:0000252	Microcephaly
65057	ACD	HP:0002894	Neoplasm of the pancreas
65057	ACD	HP:0002861	Melanoma
65057	ACD	HP:0001508	Failure to thrive
65057	ACD	HP:0001511	Intrauterine growth retardation
65057	ACD	HP:0000488	Retinopathy
65057	ACD	HP:0006753	Neoplasm of the stomach
65057	ACD	HP:0001881	Abnormal leukocyte morphology
65057	ACD	HP:0001873	Thrombocytopenia
65057	ACD	HP:0001876	Pancytopenia
65062	TMEM237	HP:0001177	Preaxial hand polydactyly
65062	TMEM237	HP:0001162	Postaxial hand polydactyly
65062	TMEM237	HP:0001161	Hand polydactyly
65062	TMEM237	HP:0002435	Meningocele
65062	TMEM237	HP:0010864	Intellectual disability, severe
65062	TMEM237	HP:0002419	Molar tooth sign on MRI
65062	TMEM237	HP:0001290	Generalized hypotonia
65062	TMEM237	HP:0001274	Agenesis of corpus callosum
65062	TMEM237	HP:0001288	Gait disturbance
65062	TMEM237	HP:0001250	Seizure
65062	TMEM237	HP:0001252	Hypotonia
65062	TMEM237	HP:0001251	Ataxia
65062	TMEM237	HP:0001249	Intellectual disability
65062	TMEM237	HP:0001263	Global developmental delay
65062	TMEM237	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
65062	TMEM237	HP:0002553	Highly arched eyebrow
65062	TMEM237	HP:0000083	Renal insufficiency
65062	TMEM237	HP:0000068	Urethral atresia
65062	TMEM237	HP:0000062	Ambiguous genitalia
65062	TMEM237	HP:0000073	Ureteral duplication
65062	TMEM237	HP:0000037	Male pseudohermaphroditism
65062	TMEM237	HP:0000028	Cryptorchidism
65062	TMEM237	HP:0008872	Feeding difficulties in infancy
65062	TMEM237	HP:0000007	Autosomal recessive inheritance
65062	TMEM237	HP:0000003	Multicystic kidney dysplasia
65062	TMEM237	HP:0001337	Tremor
65062	TMEM237	HP:0001305	Dandy-Walker malformation
65062	TMEM237	HP:0001320	Cerebellar vermis hypoplasia
65062	TMEM237	HP:0002650	Scoliosis
65062	TMEM237	HP:0002612	Congenital hepatic fibrosis
65062	TMEM237	HP:0000194	Open mouth
65062	TMEM237	HP:0000175	Cleft palate
65062	TMEM237	HP:0002793	Abnormal pattern of respiration
65062	TMEM237	HP:0002789	Tachypnea
65062	TMEM237	HP:0000112	Nephropathy
65062	TMEM237	HP:0000107	Renal cyst
65062	TMEM237	HP:0003312	Abnormal form of the vertebral bodies
65062	TMEM237	HP:0002084	Encephalocele
65062	TMEM237	HP:0002079	Hypoplasia of the corpus callosum
65062	TMEM237	HP:0010459	True hermaphroditism
65062	TMEM237	HP:0002126	Polymicrogyria
65062	TMEM237	HP:0002104	Apnea
65062	TMEM237	HP:0002170	Intracranial hemorrhage
65062	TMEM237	HP:0002269	Abnormality of neuronal migration
65062	TMEM237	HP:0100704	Cerebral visual impairment
65062	TMEM237	HP:0002251	Aganglionic megacolon
65062	TMEM237	HP:0100732	Pancreatic fibrosis
65062	TMEM237	HP:0011968	Feeding difficulties
65062	TMEM237	HP:0002365	Hypoplasia of the brainstem
65062	TMEM237	HP:0002335	Agenesis of cerebellar vermis
65062	TMEM237	HP:0002323	Anencephaly
65062	TMEM237	HP:0010804	Tented upper lip vermilion
65062	TMEM237	HP:0006870	Lobar holoprosencephaly
65062	TMEM237	HP:0000639	Nystagmus
65062	TMEM237	HP:0000648	Optic atrophy
65062	TMEM237	HP:0000647	Sclerocornea
65062	TMEM237	HP:0000618	Blindness
65062	TMEM237	HP:0000612	Iris coloboma
65062	TMEM237	HP:0000657	Oculomotor apraxia
65062	TMEM237	HP:0030680	Abnormality of cardiovascular system morphology
65062	TMEM237	HP:0000737	Irritability
65062	TMEM237	HP:0000729	Autistic behavior
65062	TMEM237	HP:0000708	Atypical behavior
65062	TMEM237	HP:0004422	Biparietal narrowing
65062	TMEM237	HP:0000864	Abnormality of the hypothalamus-pituitary axis
65062	TMEM237	HP:0000822	Hypertension
65062	TMEM237	HP:0010295	Aplasia/Hypoplasia of the tongue
65062	TMEM237	HP:0100259	Postaxial polydactyly
65062	TMEM237	HP:0008053	Aplasia/Hypoplasia of the iris
65062	TMEM237	HP:0000286	Epicanthus
65062	TMEM237	HP:0000293	Full cheeks
65062	TMEM237	HP:0000276	Long face
65062	TMEM237	HP:0000272	Malar flattening
65062	TMEM237	HP:0000238	Hydrocephalus
65062	TMEM237	HP:0000252	Microcephaly
65062	TMEM237	HP:0000221	Furrowed tongue
65062	TMEM237	HP:0025514	Morning glory anomaly
65062	TMEM237	HP:0002876	Episodic tachypnea
65062	TMEM237	HP:0001562	Oligohydramnios
65062	TMEM237	HP:0000202	Orofacial cleft
65062	TMEM237	HP:0001510	Growth delay
65062	TMEM237	HP:0006487	Bowing of the long bones
65062	TMEM237	HP:0001696	Situs inversus totalis
65062	TMEM237	HP:0000358	Posteriorly rotated ears
65062	TMEM237	HP:0000369	Low-set ears
65062	TMEM237	HP:0000368	Low-set, posteriorly rotated ears
65062	TMEM237	HP:0000340	Sloping forehead
65062	TMEM237	HP:0000348	High forehead
65062	TMEM237	HP:0000347	Micrognathia
65062	TMEM237	HP:0000316	Hypertelorism
65062	TMEM237	HP:0000322	Short philtrum
65062	TMEM237	HP:0001629	Ventricular septal defect
65062	TMEM237	HP:0001737	Pancreatic cysts
65062	TMEM237	HP:0000486	Strabismus
65062	TMEM237	HP:0000482	Microcornea
65062	TMEM237	HP:0000494	Downslanted palpebral fissures
65062	TMEM237	HP:0000490	Deeply set eye
65062	TMEM237	HP:0000463	Anteverted nares
65062	TMEM237	HP:0000457	Depressed nasal ridge
65062	TMEM237	HP:0001746	Asplenia
65062	TMEM237	HP:0001747	Accessory spleen
65062	TMEM237	HP:0000426	Prominent nasal bridge
65062	TMEM237	HP:0006706	Cystic liver disease
65062	TMEM237	HP:0000518	Cataract
65062	TMEM237	HP:0000528	Anophthalmia
65062	TMEM237	HP:0001829	Foot polydactyly
65062	TMEM237	HP:0000508	Ptosis
65062	TMEM237	HP:0000505	Visual impairment
65062	TMEM237	HP:0001830	Postaxial foot polydactyly
65062	TMEM237	HP:0000589	Coloboma
65062	TMEM237	HP:0000556	Retinal dystrophy
65062	TMEM237	HP:0000568	Microphthalmia
65062	TMEM237	HP:0000567	Chorioretinal coloboma
65062	TMEM237	HP:0000532	Abnormal chorioretinal morphology
65062	TMEM237	HP:0001883	Talipes
65078	RTN4R	HP:0410291	Negativism
65078	RTN4R	HP:0000006	Autosomal dominant inheritance
65078	RTN4R	HP:0100753	Schizophrenia
65078	RTN4R	HP:0007086	Social and occupational deterioration
65078	RTN4R	HP:0002353	EEG abnormality
65078	RTN4R	HP:0000738	Hallucinations
65078	RTN4R	HP:0000746	Delusions
65080	MRPL44	HP:0000007	Autosomal recessive inheritance
65080	MRPL44	HP:0001414	Microvesicular hepatic steatosis
65080	MRPL44	HP:0002151	Increased serum lactate
65080	MRPL44	HP:0003593	Infantile onset
65080	MRPL44	HP:0003688	Cytochrome C oxidase-negative muscle fibers
65080	MRPL44	HP:0031956	Elevated circulating aspartate aminotransferase concentration
65080	MRPL44	HP:0031964	Elevated circulating alanine aminotransferase concentration
65080	MRPL44	HP:0001522	Death in infancy
65080	MRPL44	HP:0001639	Hypertrophic cardiomyopathy
65082	VPS33A	HP:0100806	Sepsis
65082	VPS33A	HP:0001270	Motor delay
65082	VPS33A	HP:0001252	Hypotonia
65082	VPS33A	HP:0001265	Hyporeflexia
65082	VPS33A	HP:0001263	Global developmental delay
65082	VPS33A	HP:0410263	Brain imaging abnormality
65082	VPS33A	HP:0100874	Thick hair
65082	VPS33A	HP:0002540	Inability to walk
65082	VPS33A	HP:0001217	Clubbing
65082	VPS33A	HP:0002514	Cerebral calcification
65082	VPS33A	HP:0003819	Death in childhood
65082	VPS33A	HP:0008807	Acetabular dysplasia
65082	VPS33A	HP:0000097	Focal segmental glomerulosclerosis
65082	VPS33A	HP:0000093	Proteinuria
65082	VPS33A	HP:0000092	Renal tubular atrophy
65082	VPS33A	HP:0001371	Flexion contracture
65082	VPS33A	HP:0001387	Joint stiffness
65082	VPS33A	HP:0002680	J-shaped sella turcica
65082	VPS33A	HP:0006191	Deep palmar crease
65082	VPS33A	HP:0001344	Absent speech
65082	VPS33A	HP:0000007	Autosomal recessive inheritance
65082	VPS33A	HP:0002652	Skeletal dysplasia
65082	VPS33A	HP:0031123	Recurrent gastroenteritis
65082	VPS33A	HP:0000158	Macroglossia
65082	VPS33A	HP:0000123	Nephritis
65082	VPS33A	HP:0000100	Nephrotic syndrome
65082	VPS33A	HP:0001433	Hepatosplenomegaly
65082	VPS33A	HP:0000105	Enlarged kidney
65082	VPS33A	HP:0001403	Macrovesicular hepatic steatosis
65082	VPS33A	HP:0002003	Large forehead
65082	VPS33A	HP:0002086	Abnormality of the respiratory system
65082	VPS33A	HP:0002098	Respiratory distress
65082	VPS33A	HP:0002092	Pulmonary arterial hypertension
65082	VPS33A	HP:0002188	Delayed CNS myelination
65082	VPS33A	HP:0003496	Increased circulating IgM level
65082	VPS33A	HP:0002162	Low posterior hairline
65082	VPS33A	HP:0002159	Heparan sulfate excretion in urine
65082	VPS33A	HP:0003593	Infantile onset
65082	VPS33A	HP:0002240	Hepatomegaly
65082	VPS33A	HP:0003541	Urinary glycosaminoglycan excretion
65082	VPS33A	HP:0002208	Coarse hair
65082	VPS33A	HP:0002205	Recurrent respiratory infections
65082	VPS33A	HP:0100790	Hernia
65082	VPS33A	HP:0001007	Hirsutism
65082	VPS33A	HP:0001072	Thickened skin
65082	VPS33A	HP:0008454	Lumbar kyphosis
65082	VPS33A	HP:0005528	Bone marrow hypocellularity
65082	VPS33A	HP:0000639	Nystagmus
65082	VPS33A	HP:0000648	Optic atrophy
65082	VPS33A	HP:0000629	Periorbital fullness
65082	VPS33A	HP:0001928	Abnormality of coagulation
65082	VPS33A	HP:0001903	Anemia
65082	VPS33A	HP:0000664	Synophrys
65082	VPS33A	HP:0004315	Decreased circulating IgG level
65082	VPS33A	HP:0003073	Hypoalbuminemia
65082	VPS33A	HP:0003016	Metaphyseal widening
65082	VPS33A	HP:0000767	Pectus excavatum
65082	VPS33A	HP:0000768	Pectus carinatum
65082	VPS33A	HP:0003196	Short nose
65082	VPS33A	HP:0040030	Chorioretinal hypopigmentation
65082	VPS33A	HP:0000998	Hypertrichosis
65082	VPS33A	HP:0010307	Stridor
65082	VPS33A	HP:0000943	Dysostosis multiplex
65082	VPS33A	HP:0007703	Abnormality of retinal pigmentation
65082	VPS33A	HP:0000286	Epicanthus
65082	VPS33A	HP:0000280	Coarse facial features
65082	VPS33A	HP:0000293	Full cheeks
65082	VPS33A	HP:0000294	Low anterior hairline
65082	VPS33A	HP:0000238	Hydrocephalus
65082	VPS33A	HP:0000252	Microcephaly
65082	VPS33A	HP:0001552	Barrel-shaped chest
65082	VPS33A	HP:0002869	Flared iliac wing
65082	VPS33A	HP:0006538	Recurrent bronchopulmonary infections
65082	VPS33A	HP:0006532	Recurrent pneumonia
65082	VPS33A	HP:0006536	Airway obstruction
65082	VPS33A	HP:0002938	Lumbar hyperlordosis
65082	VPS33A	HP:0002942	Thoracic kyphosis
65082	VPS33A	HP:0005180	Tricuspid regurgitation
65082	VPS33A	HP:0001649	Tachycardia
65082	VPS33A	HP:0001643	Patent ductus arteriosus
65082	VPS33A	HP:0001653	Mitral regurgitation
65082	VPS33A	HP:0001655	Patent foramen ovale
65082	VPS33A	HP:0001627	Abnormal heart morphology
65082	VPS33A	HP:0001639	Hypertrophic cardiomyopathy
65082	VPS33A	HP:0001635	Congestive heart failure
65082	VPS33A	HP:0001631	Atrial septal defect
65082	VPS33A	HP:0012471	Thick vermilion border
65082	VPS33A	HP:0012448	Delayed myelination
65082	VPS33A	HP:0012444	Brain atrophy
65082	VPS33A	HP:0000470	Short neck
65082	VPS33A	HP:0000445	Wide nose
65082	VPS33A	HP:0001744	Splenomegaly
65082	VPS33A	HP:0000431	Wide nasal bridge
65082	VPS33A	HP:0000527	Long eyelashes
65082	VPS33A	HP:0000506	Telecanthus
65082	VPS33A	HP:0000509	Conjunctivitis
65082	VPS33A	HP:0012597	Heavy proteinuria
65082	VPS33A	HP:0011220	Prominent forehead
65082	VPS33A	HP:0001882	Leukopenia
65082	VPS33A	HP:0001873	Thrombocytopenia
65082	VPS33A	HP:0001875	Neutropenia
65109	UPF3B	HP:0001156	Brachydactyly
65109	UPF3B	HP:0001166	Arachnodactyly
65109	UPF3B	HP:0001256	Intellectual disability, mild
65109	UPF3B	HP:0001250	Seizure
65109	UPF3B	HP:0001252	Hypotonia
65109	UPF3B	HP:0001249	Intellectual disability
65109	UPF3B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
65109	UPF3B	HP:0000098	Tall stature
65109	UPF3B	HP:0000053	Macroorchidism
65109	UPF3B	HP:0002650	Scoliosis
65109	UPF3B	HP:0000164	Abnormality of the dentition
65109	UPF3B	HP:0001419	X-linked recessive inheritance
65109	UPF3B	HP:0002167	Abnormality of speech or vocalization
65109	UPF3B	HP:0100490	Camptodactyly of finger
65109	UPF3B	HP:0100753	Schizophrenia
65109	UPF3B	HP:0007018	Attention deficit hyperactivity disorder
65109	UPF3B	HP:0003623	Neonatal onset
65109	UPF3B	HP:0000678	Dental crowding
65109	UPF3B	HP:0011302	Long palm
65109	UPF3B	HP:0005692	Joint hyperflexibility
65109	UPF3B	HP:0000767	Pectus excavatum
65109	UPF3B	HP:0000768	Pectus carinatum
65109	UPF3B	HP:0000738	Hallucinations
65109	UPF3B	HP:0000729	Autistic behavior
65109	UPF3B	HP:0000709	Psychosis
65109	UPF3B	HP:0000708	Atypical behavior
65109	UPF3B	HP:0011463	Childhood onset
65109	UPF3B	HP:0000774	Narrow chest
65109	UPF3B	HP:0000256	Macrocephaly
65109	UPF3B	HP:0000275	Narrow face
65109	UPF3B	HP:0000276	Long face
65109	UPF3B	HP:0002808	Kyphosis
65109	UPF3B	HP:0000248	Brachycephaly
65109	UPF3B	HP:0000218	High palate
65109	UPF3B	HP:0001533	Slender build
65109	UPF3B	HP:0001519	Disproportionate tall stature
65109	UPF3B	HP:0001608	Abnormality of the voice
65109	UPF3B	HP:0001611	Hypernasal speech
65109	UPF3B	HP:0000369	Low-set ears
65109	UPF3B	HP:0000348	High forehead
65109	UPF3B	HP:0000347	Micrognathia
65109	UPF3B	HP:0000327	Hypoplasia of the maxilla
65109	UPF3B	HP:0000322	Short philtrum
65109	UPF3B	HP:0001631	Atrial septal defect
65109	UPF3B	HP:0000303	Mandibular prognathia
65109	UPF3B	HP:0012450	Chronic constipation
65109	UPF3B	HP:0000411	Protruding ear
65109	UPF3B	HP:0000426	Prominent nasal bridge
65109	UPF3B	HP:0001833	Long foot
65109	UPF3B	HP:0011220	Prominent forehead
65125	WNK1	HP:0001182	Tapered finger
65125	WNK1	HP:0001290	Generalized hypotonia
65125	WNK1	HP:0001284	Areflexia
65125	WNK1	HP:0001252	Hypotonia
65125	WNK1	HP:0001265	Hyporeflexia
65125	WNK1	HP:0008872	Feeding difficulties in infancy
65125	WNK1	HP:0007460	Autoamputation of digits
65125	WNK1	HP:0006121	Acral ulceration
65125	WNK1	HP:0002661	Painless fractures due to injury
65125	WNK1	HP:0000007	Autosomal recessive inheritance
65125	WNK1	HP:0000006	Autosomal dominant inheritance
65125	WNK1	HP:0002645	Wormian bones
65125	WNK1	HP:0002797	Osteolysis
65125	WNK1	HP:0003351	Decreased circulating renin level
65125	WNK1	HP:0002020	Gastroesophageal reflux
65125	WNK1	HP:0003307	Hyperlordosis
65125	WNK1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
65125	WNK1	HP:0005930	Abnormal epiphysis morphology
65125	WNK1	HP:0002153	Hyperkalemia
65125	WNK1	HP:0003448	Decreased sensory nerve conduction velocity
65125	WNK1	HP:0008242	Pseudohypoaldosteronism
65125	WNK1	HP:0003593	Infantile onset
65125	WNK1	HP:0032066	Decreased serum bicarbonate concentration
65125	WNK1	HP:0008391	Dystrophic fingernails
65125	WNK1	HP:0001069	Episodic hyperhidrosis
65125	WNK1	HP:0003677	Slowly progressive
65125	WNK1	HP:0009830	Peripheral neuropathy
65125	WNK1	HP:0009771	Osteolytic defects of the phalanges of the hand
65125	WNK1	HP:0004918	Hyperchloremic metabolic acidosis
65125	WNK1	HP:0001942	Metabolic acidosis
65125	WNK1	HP:0001939	Abnormality of metabolism/homeostasis
65125	WNK1	HP:0003028	Abnormality of the ankle
65125	WNK1	HP:0004349	Reduced bone mineral density
65125	WNK1	HP:0000762	Decreased nerve conduction velocity
65125	WNK1	HP:0011423	Hyperchloremia
65125	WNK1	HP:0003103	Abnormal cortical bone morphology
65125	WNK1	HP:0000822	Hypertension
65125	WNK1	HP:0003202	Skeletal muscle atrophy
65125	WNK1	HP:0003272	Abnormal hip bone morphology
65125	WNK1	HP:0008000	Decreased corneal reflex
65125	WNK1	HP:0000975	Hyperhidrosis
65125	WNK1	HP:0000970	Anhidrosis
65125	WNK1	HP:0002815	Abnormality of the knee
65125	WNK1	HP:0000224	Hypogeusia
65125	WNK1	HP:0001842	Foot acroosteolysis
65125	WNK1	HP:0001818	Paronychia
65125	WNK1	HP:0001810	Dystrophic toenail
65217	PCDH15	HP:0001270	Motor delay
65217	PCDH15	HP:0001251	Ataxia
65217	PCDH15	HP:0001249	Intellectual disability
65217	PCDH15	HP:0001263	Global developmental delay
65217	PCDH15	HP:0007360	Aplasia/Hypoplasia of the cerebellum
65217	PCDH15	HP:0000007	Autosomal recessive inheritance
65217	PCDH15	HP:0012157	Subcortical cerebral atrophy
65217	PCDH15	HP:0002120	Cerebral cortical atrophy
65217	PCDH15	HP:0003593	Infantile onset
65217	PCDH15	HP:0003577	Congenital onset
65217	PCDH15	HP:0100753	Schizophrenia
65217	PCDH15	HP:0008527	Congenital sensorineural hearing impairment
65217	PCDH15	HP:0008499	High hypermetropia
65217	PCDH15	HP:0000682	Abnormal dental enamel morphology
65217	PCDH15	HP:0000662	Nyctalopia
65217	PCDH15	HP:0000738	Hallucinations
65217	PCDH15	HP:0000739	Anxiety
65217	PCDH15	HP:0000716	Depression
65217	PCDH15	HP:0007730	Iris hypopigmentation
65217	PCDH15	HP:0012377	Hemianopia
65217	PCDH15	HP:0000365	Hearing impairment
65217	PCDH15	HP:0000375	Abnormal cochlea morphology
65217	PCDH15	HP:0031629	Impaired tandem gait
65217	PCDH15	HP:0000407	Sensorineural hearing impairment
65217	PCDH15	HP:0001751	Abnormal vestibular function
65217	PCDH15	HP:0001756	Vestibular hypofunction
65217	PCDH15	HP:0000518	Cataract
65217	PCDH15	HP:0000510	Rod-cone dystrophy
65217	PCDH15	HP:0000512	Abnormal electroretinogram
65217	PCDH15	HP:0000505	Visual impairment
65217	PCDH15	HP:0000575	Scotoma
65217	PCDH15	HP:0000572	Visual loss
65250	CPLANE1	HP:0001177	Preaxial hand polydactyly
65250	CPLANE1	HP:0001156	Brachydactyly
65250	CPLANE1	HP:0001162	Postaxial hand polydactyly
65250	CPLANE1	HP:0001161	Hand polydactyly
65250	CPLANE1	HP:0001159	Syndactyly
65250	CPLANE1	HP:0002444	Hypothalamic hamartoma
65250	CPLANE1	HP:0002436	Occipital meningocele
65250	CPLANE1	HP:0002419	Molar tooth sign on MRI
65250	CPLANE1	HP:0001290	Generalized hypotonia
65250	CPLANE1	HP:0001274	Agenesis of corpus callosum
65250	CPLANE1	HP:0001288	Gait disturbance
65250	CPLANE1	HP:0001250	Seizure
65250	CPLANE1	HP:0001252	Hypotonia
65250	CPLANE1	HP:0001251	Ataxia
65250	CPLANE1	HP:0001249	Intellectual disability
65250	CPLANE1	HP:0001263	Global developmental delay
65250	CPLANE1	HP:0032388	Periventricular nodular heterotopia
65250	CPLANE1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
65250	CPLANE1	HP:0008689	Bilateral cryptorchidism
65250	CPLANE1	HP:0008678	Renal hypoplasia/aplasia
65250	CPLANE1	HP:0002553	Highly arched eyebrow
65250	CPLANE1	HP:0006097	3-4 finger syndactyly
65250	CPLANE1	HP:0008872	Feeding difficulties in infancy
65250	CPLANE1	HP:0006159	Mesoaxial hand polydactyly
65250	CPLANE1	HP:0006145	Central Y-shaped metacarpal
65250	CPLANE1	HP:0001324	Muscle weakness
65250	CPLANE1	HP:0000007	Autosomal recessive inheritance
65250	CPLANE1	HP:0001337	Tremor
65250	CPLANE1	HP:0001320	Cerebellar vermis hypoplasia
65250	CPLANE1	HP:0002650	Scoliosis
65250	CPLANE1	HP:0000180	Lobulated tongue
65250	CPLANE1	HP:0000199	Tongue nodules
65250	CPLANE1	HP:0000190	Abnormal oral frenulum morphology
65250	CPLANE1	HP:0000191	Accessory oral frenulum
65250	CPLANE1	HP:0000175	Cleft palate
65250	CPLANE1	HP:0002793	Abnormal pattern of respiration
65250	CPLANE1	HP:0000110	Renal dysplasia
65250	CPLANE1	HP:0000104	Renal agenesis
65250	CPLANE1	HP:0002715	Abnormality of the immune system
65250	CPLANE1	HP:0002007	Frontal bossing
65250	CPLANE1	HP:0003312	Abnormal form of the vertebral bodies
65250	CPLANE1	HP:0011802	Hamartoma of tongue
65250	CPLANE1	HP:0002084	Encephalocele
65250	CPLANE1	HP:0009466	Radial deviation of finger
65250	CPLANE1	HP:0002139	Arrhinencephaly
65250	CPLANE1	HP:0002132	Porencephalic cyst
65250	CPLANE1	HP:0003457	EMG abnormality
65250	CPLANE1	HP:0002126	Polymicrogyria
65250	CPLANE1	HP:0002104	Apnea
65250	CPLANE1	HP:0003593	Infantile onset
65250	CPLANE1	HP:0002269	Abnormality of neuronal migration
65250	CPLANE1	HP:0003577	Congenital onset
65250	CPLANE1	HP:0100702	Arachnoid cyst
65250	CPLANE1	HP:0002251	Aganglionic megacolon
65250	CPLANE1	HP:0002280	Enlarged cisterna magna
65250	CPLANE1	HP:0007036	Hypoplasia of olfactory tract
65250	CPLANE1	HP:0002380	Fasciculations
65250	CPLANE1	HP:0002398	Degeneration of anterior horn cells
65250	CPLANE1	HP:0007149	Distal upper limb amyotrophy
65250	CPLANE1	HP:0009084	Midline notch of upper alveolar ridge
65250	CPLANE1	HP:0000639	Nystagmus
65250	CPLANE1	HP:0000612	Iris coloboma
65250	CPLANE1	HP:0011340	Incomplete cleft of the upper lip
65250	CPLANE1	HP:0000657	Oculomotor apraxia
65250	CPLANE1	HP:0004322	Short stature
65250	CPLANE1	HP:0030680	Abnormality of cardiovascular system morphology
65250	CPLANE1	HP:0004383	Hypoplastic left heart
65250	CPLANE1	HP:0100022	Abnormality of movement
65250	CPLANE1	HP:0004422	Biparietal narrowing
65250	CPLANE1	HP:0003134	Abnormality of peripheral nerve conduction
65250	CPLANE1	HP:0000878	11 pairs of ribs
65250	CPLANE1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
65250	CPLANE1	HP:0003097	Short femur
65250	CPLANE1	HP:0040019	Finger clinodactyly
65250	CPLANE1	HP:0100260	Mesoaxial polydactyly
65250	CPLANE1	HP:0100259	Postaxial polydactyly
65250	CPLANE1	HP:0100258	Preaxial polydactyly
65250	CPLANE1	HP:0000286	Epicanthus
65250	CPLANE1	HP:0000276	Long face
65250	CPLANE1	HP:0002817	Abnormality of the upper limb
65250	CPLANE1	HP:0030084	Clinodactyly
65250	CPLANE1	HP:0000238	Hydrocephalus
65250	CPLANE1	HP:0002883	Hyperventilation
65250	CPLANE1	HP:0012210	Abnormal renal morphology
65250	CPLANE1	HP:0000218	High palate
65250	CPLANE1	HP:0002876	Episodic tachypnea
65250	CPLANE1	HP:0000202	Orofacial cleft
65250	CPLANE1	HP:0000204	Cleft upper lip
65250	CPLANE1	HP:0001508	Failure to thrive
65250	CPLANE1	HP:0001510	Growth delay
65250	CPLANE1	HP:0001696	Situs inversus totalis
65250	CPLANE1	HP:0000358	Posteriorly rotated ears
65250	CPLANE1	HP:0000369	Low-set ears
65250	CPLANE1	HP:0000368	Low-set, posteriorly rotated ears
65250	CPLANE1	HP:0001680	Coarctation of aorta
65250	CPLANE1	HP:0000347	Micrognathia
65250	CPLANE1	HP:0002982	Tibial bowing
65250	CPLANE1	HP:0000316	Hypertelorism
65250	CPLANE1	HP:0002990	Fibular aplasia
65250	CPLANE1	HP:0001627	Abnormal heart morphology
65250	CPLANE1	HP:0000405	Conductive hearing impairment
65250	CPLANE1	HP:0000486	Strabismus
65250	CPLANE1	HP:0000479	Abnormal retinal morphology
65250	CPLANE1	HP:0000463	Anteverted nares
65250	CPLANE1	HP:0000455	Broad nasal tip
65250	CPLANE1	HP:0001770	Toe syndactyly
65250	CPLANE1	HP:0000426	Prominent nasal bridge
65250	CPLANE1	HP:0001841	Preaxial foot polydactyly
65250	CPLANE1	HP:0001829	Foot polydactyly
65250	CPLANE1	HP:0000508	Ptosis
65250	CPLANE1	HP:0000565	Esotropia
65260	COA7	HP:0002460	Distal muscle weakness
65260	COA7	HP:0001272	Cerebellar atrophy
65260	COA7	HP:0001251	Ataxia
65260	COA7	HP:0001265	Hyporeflexia
65260	COA7	HP:0001260	Dysarthria
65260	COA7	HP:0001263	Global developmental delay
65260	COA7	HP:0000007	Autosomal recessive inheritance
65260	COA7	HP:0001337	Tremor
65260	COA7	HP:0001310	Dysmetria
65260	COA7	HP:0002066	Gait ataxia
65260	COA7	HP:0003376	Steppage gait
65260	COA7	HP:0003477	Peripheral axonal neuropathy
65260	COA7	HP:0003693	Distal amyotrophy
65260	COA7	HP:0003690	Limb muscle weakness
65260	COA7	HP:0002352	Leukoencephalopathy
65260	COA7	HP:0003677	Slowly progressive
65260	COA7	HP:0009027	Foot dorsiflexor weakness
65260	COA7	HP:0011402	Demyelinating sensory neuropathy
65260	COA7	HP:0011463	Childhood onset
65260	COA7	HP:0003236	Elevated circulating creatine kinase concentration
65260	COA7	HP:0002936	Distal sensory impairment
65260	COA7	HP:0001765	Hammertoe
65260	COA7	HP:0001761	Pes cavus
65266	WNK4	HP:0000006	Autosomal dominant inheritance
65266	WNK4	HP:0002153	Hyperkalemia
65266	WNK4	HP:0008242	Pseudohypoaldosteronism
65266	WNK4	HP:0004918	Hyperchloremic metabolic acidosis
65266	WNK4	HP:0011423	Hyperchloremia
65266	WNK4	HP:0000822	Hypertension
65992	DDRGK1	HP:0100864	Short femoral neck
65992	DDRGK1	HP:0001388	Joint laxity
65992	DDRGK1	HP:0008873	Disproportionate short-limb short stature
65992	DDRGK1	HP:0002663	Delayed epiphyseal ossification
65992	DDRGK1	HP:0000007	Autosomal recessive inheritance
65992	DDRGK1	HP:0002650	Scoliosis
65992	DDRGK1	HP:0002651	Spondyloepimetaphyseal dysplasia
65992	DDRGK1	HP:0025426	Abnormal bronchus morphology
65992	DDRGK1	HP:0002781	Upper airway obstruction
65992	DDRGK1	HP:0002777	Tracheal stenosis
65992	DDRGK1	HP:0001433	Hepatosplenomegaly
65992	DDRGK1	HP:0003307	Hyperlordosis
65992	DDRGK1	HP:0003375	Narrow greater sciatic notch
65992	DDRGK1	HP:0005930	Abnormal epiphysis morphology
65992	DDRGK1	HP:0003468	Abnormal vertebral morphology
65992	DDRGK1	HP:0003498	Disproportionate short stature
65992	DDRGK1	HP:0002240	Hepatomegaly
65992	DDRGK1	HP:0008417	Vertebral hypoplasia
65992	DDRGK1	HP:0003510	Severe short stature
65992	DDRGK1	HP:0009826	Limb undergrowth
65992	DDRGK1	HP:0008463	Central vertebral hypoplasia
65992	DDRGK1	HP:0008450	Narrow vertebral interpedicular distance
65992	DDRGK1	HP:0008418	Squared-off platyspondyly
65992	DDRGK1	HP:0030674	Antenatal onset
65992	DDRGK1	HP:0003088	Premature osteoarthritis
65992	DDRGK1	HP:0003015	Flared metaphysis
65992	DDRGK1	HP:0003016	Metaphyseal widening
65992	DDRGK1	HP:0003026	Short long bone
65992	DDRGK1	HP:0003025	Metaphyseal irregularity
65992	DDRGK1	HP:0000773	Short ribs
65992	DDRGK1	HP:0000926	Platyspondyly
65992	DDRGK1	HP:0003099	Fibular overgrowth
65992	DDRGK1	HP:0003270	Abdominal distention
65992	DDRGK1	HP:0001591	Bell-shaped thorax
65992	DDRGK1	HP:0006462	Generalized bone demineralization
65992	DDRGK1	HP:0002812	Coxa vara
65992	DDRGK1	HP:0002829	Arthralgia
65992	DDRGK1	HP:0000233	Thin vermilion border
65992	DDRGK1	HP:0005257	Thoracic hypoplasia
65992	DDRGK1	HP:0001609	Hoarse voice
65992	DDRGK1	HP:0002938	Lumbar hyperlordosis
65992	DDRGK1	HP:0001602	Laryngeal stenosis
65992	DDRGK1	HP:0002983	Micromelia
65992	DDRGK1	HP:0002979	Bowing of the legs
65992	DDRGK1	HP:0002953	Vertebral compression fracture
65992	DDRGK1	HP:0002970	Genu varum
65992	DDRGK1	HP:0000470	Short neck
65992	DDRGK1	HP:0001744	Splenomegaly
65993	MRPS34	HP:0002490	Increased CSF lactate
65993	MRPS34	HP:0001272	Cerebellar atrophy
65993	MRPS34	HP:0001250	Seizure
65993	MRPS34	HP:0001252	Hypotonia
65993	MRPS34	HP:0001266	Choreoathetosis
65993	MRPS34	HP:0001263	Global developmental delay
65993	MRPS34	HP:0001257	Spasticity
65993	MRPS34	HP:0002540	Inability to walk
65993	MRPS34	HP:0000085	Horseshoe kidney
65993	MRPS34	HP:0001347	Hyperreflexia
65993	MRPS34	HP:0001332	Dystonia
65993	MRPS34	HP:0001344	Absent speech
65993	MRPS34	HP:0000007	Autosomal recessive inheritance
65993	MRPS34	HP:0001337	Tremor
65993	MRPS34	HP:0002751	Kyphoscoliosis
65993	MRPS34	HP:0002020	Gastroesophageal reflux
65993	MRPS34	HP:0002019	Constipation
65993	MRPS34	HP:0002015	Dysphagia
65993	MRPS34	HP:0002151	Increased serum lactate
65993	MRPS34	HP:0010535	Sleep apnea
65993	MRPS34	HP:0003593	Infantile onset
65993	MRPS34	HP:0011968	Feeding difficulties
65993	MRPS34	HP:0002376	Developmental regression
65993	MRPS34	HP:0003676	Progressive
65993	MRPS34	HP:0003623	Neonatal onset
65993	MRPS34	HP:0000639	Nystagmus
65993	MRPS34	HP:0000648	Optic atrophy
65993	MRPS34	HP:0012707	Elevated brain lactate level by MRS
65993	MRPS34	HP:0003128	Lactic acidosis
65993	MRPS34	HP:0034392	Joint contracture
65993	MRPS34	HP:0000280	Coarse facial features
65993	MRPS34	HP:0000252	Microcephaly
65993	MRPS34	HP:0001522	Death in infancy
65993	MRPS34	HP:0000486	Strabismus
65993	MRPS34	HP:0000508	Ptosis
65993	MRPS34	HP:0000577	Exotropia
65998	ZFTA	HP:0002460	Distal muscle weakness
65998	ZFTA	HP:0001288	Gait disturbance
65998	ZFTA	HP:0001250	Seizure
65998	ZFTA	HP:0025461	Abnormal cell morphology
65998	ZFTA	HP:0002013	Vomiting
65998	ZFTA	HP:0100526	Neoplasm of the lung
65998	ZFTA	HP:0002076	Migraine
65998	ZFTA	HP:0100615	Ovarian neoplasm
65998	ZFTA	HP:0100013	Neoplasm of the breast
65998	ZFTA	HP:0030693	Supratentorial neoplasm
65998	ZFTA	HP:0010302	Spinal cord tumor
65998	ZFTA	HP:0002896	Neoplasm of the liver
65998	ZFTA	HP:0002888	Ependymoma
65998	ZFTA	HP:0012534	Dysesthesia
65998	ZFTA	HP:0012531	Pain
78987	CRELD1	HP:0003829	Typified by incomplete penetrance
78987	CRELD1	HP:0000006	Autosomal dominant inheritance
78987	CRELD1	HP:0002627	Right aortic arch with mirror image branching
78987	CRELD1	HP:0003577	Congenital onset
78987	CRELD1	HP:0004935	Pulmonary artery atresia
78987	CRELD1	HP:0001651	Dextrocardia
78987	CRELD1	HP:0006695	Atrioventricular canal defect
78989	COLEC11	HP:0001249	Intellectual disability
78989	COLEC11	HP:0001263	Global developmental delay
78989	COLEC11	HP:0002558	Supernumerary nipple
78989	COLEC11	HP:0008689	Bilateral cryptorchidism
78989	COLEC11	HP:0002553	Highly arched eyebrow
78989	COLEC11	HP:0000085	Horseshoe kidney
78989	COLEC11	HP:0001382	Joint hypermobility
78989	COLEC11	HP:0000047	Hypospadias
78989	COLEC11	HP:0002678	Skull asymmetry
78989	COLEC11	HP:0001363	Craniosynostosis
78989	COLEC11	HP:0000028	Cryptorchidism
78989	COLEC11	HP:0008897	Postnatal growth retardation
78989	COLEC11	HP:0000007	Autosomal recessive inheritance
78989	COLEC11	HP:0002650	Scoliosis
78989	COLEC11	HP:0000175	Cleft palate
78989	COLEC11	HP:0002714	Downturned corners of mouth
78989	COLEC11	HP:0003307	Hyperlordosis
78989	COLEC11	HP:0003468	Abnormal vertebral morphology
78989	COLEC11	HP:0002265	Large fleshy ears
78989	COLEC11	HP:0003577	Congenital onset
78989	COLEC11	HP:0010759	Prominence of the premaxilla
78989	COLEC11	HP:0009004	Hypoplasia of the musculature
78989	COLEC11	HP:0000925	Abnormality of the vertebral column
78989	COLEC11	HP:0040016	Prominent coccyx
78989	COLEC11	HP:0003298	Spina bifida occulta
78989	COLEC11	HP:0000289	Broad philtrum
78989	COLEC11	HP:0005105	Abnormal nasal morphology
78989	COLEC11	HP:0002827	Hip dislocation
78989	COLEC11	HP:0002825	Caudal appendage
78989	COLEC11	HP:0006394	Limited pronation/supination of forearm
78989	COLEC11	HP:0000218	High palate
78989	COLEC11	HP:0001540	Diastasis recti
78989	COLEC11	HP:0001537	Umbilical hernia
78989	COLEC11	HP:0000202	Orofacial cleft
78989	COLEC11	HP:0000204	Cleft upper lip
78989	COLEC11	HP:0000377	Abnormal pinna morphology
78989	COLEC11	HP:0005243	Partial abdominal muscle agenesis
78989	COLEC11	HP:0000365	Hearing impairment
78989	COLEC11	HP:0000369	Low-set ears
78989	COLEC11	HP:0000337	Broad forehead
78989	COLEC11	HP:0002996	Limited elbow movement
78989	COLEC11	HP:0000316	Hypertelorism
78989	COLEC11	HP:0002974	Radioulnar synostosis
78989	COLEC11	HP:0000486	Strabismus
78989	COLEC11	HP:0000494	Downslanted palpebral fissures
78989	COLEC11	HP:0000473	Torticollis
78989	COLEC11	HP:0000437	Depressed nasal tip
78989	COLEC11	HP:0000431	Wide nasal bridge
78989	COLEC11	HP:0000426	Prominent nasal bridge
78989	COLEC11	HP:0000506	Telecanthus
78989	COLEC11	HP:0000508	Ptosis
78989	COLEC11	HP:0000581	Blepharophimosis
78989	COLEC11	HP:0000593	Abnormal anterior chamber morphology
78989	COLEC11	HP:0000537	Epicanthus inversus
79001	VKORC1	HP:0000007	Autosomal recessive inheritance
79001	VKORC1	HP:0000006	Autosomal dominant inheritance
79001	VKORC1	HP:0008169	Reduced factor VII activity
79001	VKORC1	HP:0011858	Reduced factor IX activity
79001	VKORC1	HP:0008321	Reduced factor X activity
79001	VKORC1	HP:0040250	Reduced prothrombin antigen
79001	VKORC1	HP:0001892	Abnormal bleeding
79001	VKORC1	HP:0001871	Abnormality of blood and blood-forming tissues
79005	SCNM1	HP:0001162	Postaxial hand polydactyly
79005	SCNM1	HP:0009928	Thick nasal alae
79005	SCNM1	HP:0008577	Underfolded helix
79005	SCNM1	HP:0001249	Intellectual disability
79005	SCNM1	HP:0000007	Autosomal recessive inheritance
79005	SCNM1	HP:0000189	Narrow palate
79005	SCNM1	HP:0000185	Cleft soft palate
79005	SCNM1	HP:0000180	Lobulated tongue
79005	SCNM1	HP:0000199	Tongue nodules
79005	SCNM1	HP:0000191	Accessory oral frenulum
79005	SCNM1	HP:0000160	Narrow mouth
79005	SCNM1	HP:0002714	Downturned corners of mouth
79005	SCNM1	HP:0002000	Short columella
79005	SCNM1	HP:0002007	Frontal bossing
79005	SCNM1	HP:0002162	Low posterior hairline
79005	SCNM1	HP:0011823	Chin with horizontal crease
79005	SCNM1	HP:0003577	Congenital onset
79005	SCNM1	HP:0010055	Broad hallux
79005	SCNM1	HP:0000691	Microdontia
79005	SCNM1	HP:0000670	Carious teeth
79005	SCNM1	HP:0000668	Hypodontia
79005	SCNM1	HP:0000750	Delayed speech and language development
79005	SCNM1	HP:0009370	Type A brachydactyly
79005	SCNM1	HP:0000286	Epicanthus
79005	SCNM1	HP:0000278	Retrognathia
79005	SCNM1	HP:0000268	Dolichocephaly
79005	SCNM1	HP:0000218	High palate
79005	SCNM1	HP:0000378	Cupped ear
79005	SCNM1	HP:0000369	Low-set ears
79005	SCNM1	HP:0000337	Broad forehead
79005	SCNM1	HP:0000348	High forehead
79005	SCNM1	HP:0000316	Hypertelorism
79005	SCNM1	HP:0000486	Strabismus
79005	SCNM1	HP:0000494	Downslanted palpebral fissures
79005	SCNM1	HP:0000456	Bifid nasal tip
79005	SCNM1	HP:0001770	Toe syndactyly
79005	SCNM1	HP:0000431	Wide nasal bridge
79005	SCNM1	HP:0000430	Underdeveloped nasal alae
79005	SCNM1	HP:0001830	Postaxial foot polydactyly
79005	SCNM1	HP:0000582	Upslanted palpebral fissure
79005	SCNM1	HP:0011235	Additional crus of antihelix
79023	NUP37	HP:0003774	Stage 5 chronic kidney disease
79023	NUP37	HP:0002586	Peritonitis
79023	NUP37	HP:0001249	Intellectual disability
79023	NUP37	HP:0000097	Focal segmental glomerulosclerosis
79023	NUP37	HP:0000093	Proteinuria
79023	NUP37	HP:0000007	Autosomal recessive inheritance
79023	NUP37	HP:0001320	Cerebellar vermis hypoplasia
79023	NUP37	HP:0002027	Abdominal pain
79023	NUP37	HP:0100539	Periorbital edema
79023	NUP37	HP:0003577	Congenital onset
79023	NUP37	HP:0011947	Respiratory tract infection
79023	NUP37	HP:0002315	Headache
79023	NUP37	HP:0004209	Clinodactyly of the 5th finger
79023	NUP37	HP:0012622	Chronic kidney disease
79023	NUP37	HP:0001967	Diffuse mesangial sclerosis
79023	NUP37	HP:0001945	Fever
79023	NUP37	HP:0003073	Hypoalbuminemia
79023	NUP37	HP:0000737	Irritability
79023	NUP37	HP:0000707	Abnormality of the nervous system
79023	NUP37	HP:0011451	Primary microcephaly
79023	NUP37	HP:0000969	Edema
79023	NUP37	HP:0031504	Foamy urine
79023	NUP37	HP:0012579	Minimal change glomerulonephritis
79029	AFG2B	HP:0100952	Enlarged sylvian cistern
79029	AFG2B	HP:0001250	Seizure
79029	AFG2B	HP:0001252	Hypotonia
79029	AFG2B	HP:0001249	Intellectual disability
79029	AFG2B	HP:0001263	Global developmental delay
79029	AFG2B	HP:0001257	Spasticity
79029	AFG2B	HP:0007359	Focal-onset seizure
79029	AFG2B	HP:0002510	Spastic tetraplegia
79029	AFG2B	HP:0001332	Dystonia
79029	AFG2B	HP:0000007	Autosomal recessive inheritance
79029	AFG2B	HP:0002650	Scoliosis
79029	AFG2B	HP:0002069	Bilateral tonic-clonic seizure
79029	AFG2B	HP:0002079	Hypoplasia of the corpus callosum
79029	AFG2B	HP:0002121	Generalized non-motor (absence) seizure
79029	AFG2B	HP:0003593	Infantile onset
79029	AFG2B	HP:0003577	Congenital onset
79029	AFG2B	HP:0100704	Cerebral visual impairment
79029	AFG2B	HP:0006970	Periventricular leukomalacia
79029	AFG2B	HP:0011463	Childhood onset
79029	AFG2B	HP:0000294	Low anterior hairline
79029	AFG2B	HP:0000252	Microcephaly
79029	AFG2B	HP:0000218	High palate
79029	AFG2B	HP:0000215	Thick upper lip vermilion
79029	AFG2B	HP:0011099	Spastic hemiparesis
79029	AFG2B	HP:0000341	Narrow forehead
79029	AFG2B	HP:0000347	Micrognathia
79029	AFG2B	HP:0032794	Myoclonic seizure
79029	AFG2B	HP:0000407	Sensorineural hearing impairment
79029	AFG2B	HP:0005280	Depressed nasal bridge
79029	AFG2B	HP:0012469	Infantile spasms
79029	AFG2B	HP:0000494	Downslanted palpebral fissures
79029	AFG2B	HP:0000506	Telecanthus
79042	TSEN34	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
79042	TSEN34	HP:0001270	Motor delay
79042	TSEN34	HP:0001250	Seizure
79042	TSEN34	HP:0001266	Choreoathetosis
79042	TSEN34	HP:0001257	Spasticity
79042	TSEN34	HP:0002536	Abnormal cortical gyration
79042	TSEN34	HP:0031162	Impaired oropharyngeal swallow response
79042	TSEN34	HP:0001332	Dystonia
79042	TSEN34	HP:0000007	Autosomal recessive inheritance
79042	TSEN34	HP:0001320	Cerebellar vermis hypoplasia
79042	TSEN34	HP:0001321	Cerebellar hypoplasia
79042	TSEN34	HP:0007663	Reduced visual acuity
79042	TSEN34	HP:0007598	Bilateral single transverse palmar creases
79042	TSEN34	HP:0002719	Recurrent infections
79042	TSEN34	HP:0002020	Gastroesophageal reflux
79042	TSEN34	HP:0002033	Poor suck
79042	TSEN34	HP:0002079	Hypoplasia of the corpus callosum
79042	TSEN34	HP:0002072	Chorea
79042	TSEN34	HP:0003487	Babinski sign
79042	TSEN34	HP:0002123	Generalized myoclonic seizure
79042	TSEN34	HP:0002119	Ventriculomegaly
79042	TSEN34	HP:0002104	Apnea
79042	TSEN34	HP:0002268	Paroxysmal dystonia
79042	TSEN34	HP:0100704	Cerebral visual impairment
79042	TSEN34	HP:0003558	Viral infection-induced rhabdomyolysis
79042	TSEN34	HP:0200136	Oral-pharyngeal dysphagia
79042	TSEN34	HP:0011968	Feeding difficulties
79042	TSEN34	HP:0002365	Hypoplasia of the brainstem
79042	TSEN34	HP:0002360	Sleep disturbance
79042	TSEN34	HP:0002350	Cerebellar cyst
79042	TSEN34	HP:0200049	Upper limb hypertonia
79042	TSEN34	HP:0006850	Hypoplasia of the ventral pons
79042	TSEN34	HP:0006895	Lower limb hypertonia
79042	TSEN34	HP:0009062	Infantile axial hypotonia
79042	TSEN34	HP:0011344	Severe global developmental delay
79042	TSEN34	HP:0001999	Abnormal facial shape
79042	TSEN34	HP:0006989	Dysplastic corpus callosum
79042	TSEN34	HP:0011471	Gastrostomy tube feeding in infancy
79042	TSEN34	HP:0012765	Widened cerebellar subarachnoid space
79042	TSEN34	HP:0100307	Cerebellar hemisphere hypoplasia
79042	TSEN34	HP:0000253	Progressive microcephaly
79042	TSEN34	HP:0000252	Microcephaly
79042	TSEN34	HP:0000340	Sloping forehead
79042	TSEN34	HP:0011171	Simple febrile seizure
79042	TSEN34	HP:0012469	Infantile spasms
79042	TSEN34	HP:0000505	Visual impairment
79048	SECISBP2	HP:0032210	Decreased circulating free T3
79048	SECISBP2	HP:0001249	Intellectual disability
79048	SECISBP2	HP:0000007	Autosomal recessive inheritance
79048	SECISBP2	HP:0008994	Proximal muscle weakness in lower limbs
79048	SECISBP2	HP:0002750	Delayed skeletal maturation
79048	SECISBP2	HP:0003391	Gowers sign
79048	SECISBP2	HP:0003623	Neonatal onset
79048	SECISBP2	HP:0009053	Distal lower limb muscle weakness
79048	SECISBP2	HP:0004322	Short stature
79048	SECISBP2	HP:0031903	Abnormal circulating selenium concentration
79048	SECISBP2	HP:0000736	Short attention span
79048	SECISBP2	HP:0003162	Fasting hypoglycemia
79048	SECISBP2	HP:0000821	Hypothyroidism
79048	SECISBP2	HP:0040214	Abnormal circulating insulin concentration
79048	SECISBP2	HP:0033077	Increased circulating free T4 concentration
79048	SECISBP2	HP:0001510	Growth delay
79048	SECISBP2	HP:0001513	Obesity
79048	SECISBP2	HP:0031506	Increased circulating T4 concentration
79048	SECISBP2	HP:0012379	Abnormal circulating enzyme concentration or activity
79048	SECISBP2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
79048	SECISBP2	HP:0000508	Ptosis
79048	SECISBP2	HP:0012548	Fatty replacement of skeletal muscle
79053	ALG8	HP:0001156	Brachydactyly
79053	ALG8	HP:0002415	Leukodystrophy
79053	ALG8	HP:0001250	Seizure
79053	ALG8	HP:0001252	Hypotonia
79053	ALG8	HP:0001251	Ataxia
79053	ALG8	HP:0001263	Global developmental delay
79053	ALG8	HP:0003811	Neonatal death
79053	ALG8	HP:0001396	Cholestasis
79053	ALG8	HP:0000028	Cryptorchidism
79053	ALG8	HP:0000007	Autosomal recessive inheritance
79053	ALG8	HP:0000006	Autosomal dominant inheritance
79053	ALG8	HP:0000158	Macroglossia
79053	ALG8	HP:0000107	Renal cyst
79053	ALG8	HP:0001410	Decreased liver function
79053	ALG8	HP:0001407	Hepatic cysts
79053	ALG8	HP:0002014	Diarrhea
79053	ALG8	HP:0002013	Vomiting
79053	ALG8	HP:0002079	Hypoplasia of the corpus callosum
79053	ALG8	HP:0002120	Cerebral cortical atrophy
79053	ALG8	HP:0002119	Ventriculomegaly
79053	ALG8	HP:0003593	Infantile onset
79053	ALG8	HP:0003577	Congenital onset
79053	ALG8	HP:0002243	Protein-losing enteropathy
79053	ALG8	HP:0002240	Hepatomegaly
79053	ALG8	HP:0011968	Feeding difficulties
79053	ALG8	HP:0002352	Leukoencephalopathy
79053	ALG8	HP:0001001	Abnormality of subcutaneous fat tissue
79053	ALG8	HP:0100678	Premature skin wrinkling
79053	ALG8	HP:0003642	Type I transferrin isoform profile
79053	ALG8	HP:0005543	Reduced protein C activity
79053	ALG8	HP:0000639	Nystagmus
79053	ALG8	HP:0001976	Reduced antithrombin III activity
79053	ALG8	HP:0000648	Optic atrophy
79053	ALG8	HP:0001929	Reduced factor XI activity
79053	ALG8	HP:0001903	Anemia
79053	ALG8	HP:0001999	Abnormal facial shape
79053	ALG8	HP:0003073	Hypoalbuminemia
79053	ALG8	HP:0000707	Abnormality of the nervous system
79053	ALG8	HP:0011461	Fetal onset
79053	ALG8	HP:0003186	Inverted nipples
79053	ALG8	HP:0000821	Hypothyroidism
79053	ALG8	HP:0003270	Abdominal distention
79053	ALG8	HP:0003256	Abnormality of the coagulation cascade
79053	ALG8	HP:0003259	Elevated circulating creatinine concentration
79053	ALG8	HP:0000973	Cutis laxa
79053	ALG8	HP:0000969	Edema
79053	ALG8	HP:0011682	Perimembranous ventricular septal defect
79053	ALG8	HP:0000239	Large fontanelles
79053	ALG8	HP:0001562	Oligohydramnios
79053	ALG8	HP:0001558	Decreased fetal movement
79053	ALG8	HP:0001522	Death in infancy
79053	ALG8	HP:0001541	Ascites
79053	ALG8	HP:0001508	Failure to thrive
79053	ALG8	HP:0001518	Small for gestational age
79053	ALG8	HP:0001511	Intrauterine growth retardation
79053	ALG8	HP:0031507	Decreased circulating T4 concentration
79053	ALG8	HP:0012385	Camptodactyly
79053	ALG8	HP:0002910	Elevated hepatic transaminase
79053	ALG8	HP:0002902	Hyponatremia
79053	ALG8	HP:0011024	Abnormality of the gastrointestinal tract
79053	ALG8	HP:0000369	Low-set ears
79053	ALG8	HP:0000343	Long philtrum
79053	ALG8	HP:0000316	Hypertelorism
79053	ALG8	HP:0001643	Patent ductus arteriosus
79053	ALG8	HP:0001622	Premature birth
79053	ALG8	HP:0000478	Abnormality of the eye
79053	ALG8	HP:0000488	Retinopathy
79053	ALG8	HP:0011121	Abnormality of skin morphology
79053	ALG8	HP:0001789	Hydrops fetalis
79053	ALG8	HP:0000470	Short neck
79053	ALG8	HP:0001762	Talipes equinovarus
79053	ALG8	HP:0000518	Cataract
79053	ALG8	HP:0001873	Thrombocytopenia
79058	ASPSCR1	HP:0001428	Somatic mutation
79058	ASPSCR1	HP:0012218	Alveolar soft part sarcoma
79068	FTO	HP:0001156	Brachydactyly
79068	FTO	HP:0001276	Hypertonia
79068	FTO	HP:0001250	Seizure
79068	FTO	HP:0003819	Death in childhood
79068	FTO	HP:0002678	Skull asymmetry
79068	FTO	HP:0000028	Cryptorchidism
79068	FTO	HP:0006129	Drumstick terminal phalanges
79068	FTO	HP:0001339	Lissencephaly
79068	FTO	HP:0000007	Autosomal recessive inheritance
79068	FTO	HP:0001305	Dandy-Walker malformation
79068	FTO	HP:0000193	Bifid uvula
79068	FTO	HP:0000175	Cleft palate
79068	FTO	HP:0003577	Congenital onset
79068	FTO	HP:0010808	Protruding tongue
79068	FTO	HP:0009085	Alveolar ridge overgrowth
79068	FTO	HP:0011344	Severe global developmental delay
79068	FTO	HP:0011461	Fetal onset
79068	FTO	HP:0000965	Cutis marmorata
79068	FTO	HP:0000280	Coarse facial features
79068	FTO	HP:0000278	Retrognathia
79068	FTO	HP:0000238	Hydrocephalus
79068	FTO	HP:0000233	Thin vermilion border
79068	FTO	HP:0001537	Umbilical hernia
79068	FTO	HP:0001508	Failure to thrive
79068	FTO	HP:0001511	Intrauterine growth retardation
79068	FTO	HP:0001612	Weak cry
79068	FTO	HP:0001643	Patent ductus arteriosus
79068	FTO	HP:0001629	Ventricular septal defect
79068	FTO	HP:0001639	Hypertrophic cardiomyopathy
79068	FTO	HP:0000407	Sensorineural hearing impairment
79068	FTO	HP:0000463	Anteverted nares
79068	FTO	HP:0012444	Brain atrophy
79068	FTO	HP:0000470	Short neck
79068	FTO	HP:0005484	Secondary microcephaly
79068	FTO	HP:0001800	Hypoplastic toenails
79083	MLPH	HP:0007443	Partial albinism
79083	MLPH	HP:0000007	Autosomal recessive inheritance
79083	MLPH	HP:0002721	Immunodeficiency
79083	MLPH	HP:0002218	Silver-gray hair
79083	MLPH	HP:0002227	White eyelashes
79083	MLPH	HP:0005599	Hypopigmentation of hair
79083	MLPH	HP:0000707	Abnormality of the nervous system
79083	MLPH	HP:0011463	Childhood onset
79083	MLPH	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft
79083	MLPH	HP:0007730	Iris hypopigmentation
79087	ALG12	HP:0410242	Abnormal circulating IgG level
79087	ALG12	HP:0410243	Abnormal circulating IgM level
79087	ALG12	HP:0410240	Abnormal circulating IgA level
79087	ALG12	HP:0001290	Generalized hypotonia
79087	ALG12	HP:0100806	Sepsis
79087	ALG12	HP:0100807	Long fingers
79087	ALG12	HP:0001250	Seizure
79087	ALG12	HP:0001252	Hypotonia
79087	ALG12	HP:0001249	Intellectual disability
79087	ALG12	HP:0001263	Global developmental delay
79087	ALG12	HP:0002566	Intestinal malrotation
79087	ALG12	HP:0410263	Brain imaging abnormality
79087	ALG12	HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine
79087	ALG12	HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
79087	ALG12	HP:0010976	B lymphocytopenia
79087	ALG12	HP:0000046	Small scrotum
79087	ALG12	HP:0000054	Micropenis
79087	ALG12	HP:0000047	Hypospadias
79087	ALG12	HP:0000028	Cryptorchidism
79087	ALG12	HP:0000007	Autosomal recessive inheritance
79087	ALG12	HP:0001302	Pachygyria
79087	ALG12	HP:0002650	Scoliosis
79087	ALG12	HP:0001321	Cerebellar hypoplasia
79087	ALG12	HP:0008905	Rhizomelia
79087	ALG12	HP:0410018	Recurrent ear infections
79087	ALG12	HP:0000119	Abnormality of the genitourinary system
79087	ALG12	HP:0002020	Gastroesophageal reflux
79087	ALG12	HP:0002011	Morphological central nervous system abnormality
79087	ALG12	HP:0003316	Butterfly vertebrae
79087	ALG12	HP:0011800	Midface retrusion
79087	ALG12	HP:0002079	Hypoplasia of the corpus callosum
79087	ALG12	HP:0008151	Prolonged prothrombin time
79087	ALG12	HP:0002119	Ventriculomegaly
79087	ALG12	HP:0009623	Proximal placement of thumb
79087	ALG12	HP:0002194	Delayed gross motor development
79087	ALG12	HP:0002162	Low posterior hairline
79087	ALG12	HP:0010557	Overlapping fingers
79087	ALG12	HP:0011849	Abnormal bone ossification
79087	ALG12	HP:0002257	Chronic rhinitis
79087	ALG12	HP:0004855	Reduced protein S activity
79087	ALG12	HP:0002205	Recurrent respiratory infections
79087	ALG12	HP:0100776	Recurrent pharyngitis
79087	ALG12	HP:0200128	Biventricular hypertrophy
79087	ALG12	HP:0011968	Feeding difficulties
79087	ALG12	HP:0011947	Respiratory tract infection
79087	ALG12	HP:0002389	Cavum septum pellucidum
79087	ALG12	HP:0003645	Prolonged partial thromboplastin time
79087	ALG12	HP:0005543	Reduced protein C activity
79087	ALG12	HP:0004209	Clinodactyly of the 5th finger
79087	ALG12	HP:0001929	Reduced factor XI activity
79087	ALG12	HP:0011344	Severe global developmental delay
79087	ALG12	HP:0011327	Posterior plagiocephaly
79087	ALG12	HP:0001988	Recurrent hypoglycemia
79087	ALG12	HP:0001999	Abnormal facial shape
79087	ALG12	HP:0004313	Decreased circulating antibody level
79087	ALG12	HP:0003073	Hypoalbuminemia
79087	ALG12	HP:0003049	Ulnar deviation of the wrist
79087	ALG12	HP:0003026	Short long bone
79087	ALG12	HP:0000759	Abnormal peripheral nervous system morphology
79087	ALG12	HP:0000750	Delayed speech and language development
79087	ALG12	HP:0011471	Gastrostomy tube feeding in infancy
79087	ALG12	HP:0012766	Widened cerebral subarachnoid space
79087	ALG12	HP:0009124	Abnormal adipose tissue morphology
79087	ALG12	HP:0000773	Short ribs
79087	ALG12	HP:0005736	Short tibia
79087	ALG12	HP:0003186	Inverted nipples
79087	ALG12	HP:0005792	Short humerus
79087	ALG12	HP:0003146	Hypocholesterolemia
79087	ALG12	HP:0003097	Short femur
79087	ALG12	HP:0040246	Reduced antithrombin antigen
79087	ALG12	HP:0003256	Abnormality of the coagulation cascade
79087	ALG12	HP:0011623	Muscular ventricular septal defect
79087	ALG12	HP:0000969	Edema
79087	ALG12	HP:0000286	Epicanthus
79087	ALG12	HP:0000276	Long face
79087	ALG12	HP:0000253	Progressive microcephaly
79087	ALG12	HP:0001582	Redundant skin
79087	ALG12	HP:0000219	Thin upper lip vermilion
79087	ALG12	HP:0001561	Polyhydramnios
79087	ALG12	HP:0001508	Failure to thrive
79087	ALG12	HP:0001518	Small for gestational age
79087	ALG12	HP:0001511	Intrauterine growth retardation
79087	ALG12	HP:0012379	Abnormal circulating enzyme concentration or activity
79087	ALG12	HP:0012385	Camptodactyly
79087	ALG12	HP:0000377	Abnormal pinna morphology
79087	ALG12	HP:0006532	Recurrent pneumonia
79087	ALG12	HP:0002910	Elevated hepatic transaminase
79087	ALG12	HP:0002902	Hyponatremia
79087	ALG12	HP:0002901	Hypocalcemia
79087	ALG12	HP:0000347	Micrognathia
79087	ALG12	HP:0001643	Patent ductus arteriosus
79087	ALG12	HP:0000322	Short philtrum
79087	ALG12	HP:0002984	Hypoplasia of the radius
79087	ALG12	HP:0001655	Patent foramen ovale
79087	ALG12	HP:0001622	Premature birth
79087	ALG12	HP:0000407	Sensorineural hearing impairment
79087	ALG12	HP:0000486	Strabismus
79087	ALG12	HP:0000478	Abnormality of the eye
79087	ALG12	HP:0001792	Small nail
79087	ALG12	HP:0012448	Delayed myelination
79087	ALG12	HP:0000445	Wide nose
79087	ALG12	HP:0001762	Talipes equinovarus
79087	ALG12	HP:0000426	Prominent nasal bridge
79087	ALG12	HP:0001852	Sandal gap
79087	ALG12	HP:0030353	Decreased serum insulin-like growth factor 1
79087	ALG12	HP:0000541	Retinal detachment
79087	ALG12	HP:0001873	Thrombocytopenia
79092	CARD14	HP:0025114	Hypergranulosis
79092	CARD14	HP:0003765	Psoriasiform dermatitis
79092	CARD14	HP:0007400	Irregular hyperpigmentation
79092	CARD14	HP:0002664	Neoplasm
79092	CARD14	HP:0000006	Autosomal dominant inheritance
79092	CARD14	HP:0025474	Erythematous plaque
79092	CARD14	HP:0000163	Abnormal oral cavity morphology
79092	CARD14	HP:0003593	Infantile onset
79092	CARD14	HP:0100725	Lichenification
79092	CARD14	HP:0008392	Subungual hyperkeratosis
79092	CARD14	HP:0001036	Parakeratosis
79092	CARD14	HP:0001019	Erythroderma
79092	CARD14	HP:0025092	Epidermal acanthosis
79092	CARD14	HP:0200034	Papule
79092	CARD14	HP:0200039	Pustule
79092	CARD14	HP:0001072	Thickened skin
79092	CARD14	HP:0032152	Keratosis pilaris
79092	CARD14	HP:0000656	Ectropion
79092	CARD14	HP:0000989	Pruritus
79092	CARD14	HP:0000982	Palmoplantar keratoderma
79092	CARD14	HP:0000964	Eczema
79092	CARD14	HP:0000962	Hyperkeratosis
79092	CARD14	HP:0040162	Orthokeratosis
79092	CARD14	HP:0008064	Ichthyosis
79092	CARD14	HP:0040189	Scaling skin
79092	CARD14	HP:0001597	Abnormality of the nail
79133	NDUFAF5	HP:0025116	Fetal distress
79133	NDUFAF5	HP:0002490	Increased CSF lactate
79133	NDUFAF5	HP:0001138	Optic neuropathy
79133	NDUFAF5	HP:0010864	Intellectual disability, severe
79133	NDUFAF5	HP:0002421	Poor head control
79133	NDUFAF5	HP:0002415	Leukodystrophy
79133	NDUFAF5	HP:0003737	Mitochondrial myopathy
79133	NDUFAF5	HP:0001298	Encephalopathy
79133	NDUFAF5	HP:0001290	Generalized hypotonia
79133	NDUFAF5	HP:0001274	Agenesis of corpus callosum
79133	NDUFAF5	HP:0001254	Lethargy
79133	NDUFAF5	HP:0001250	Seizure
79133	NDUFAF5	HP:0001252	Hypotonia
79133	NDUFAF5	HP:0001251	Ataxia
79133	NDUFAF5	HP:0001266	Choreoathetosis
79133	NDUFAF5	HP:0001260	Dysarthria
79133	NDUFAF5	HP:0001263	Global developmental delay
79133	NDUFAF5	HP:0001257	Spasticity
79133	NDUFAF5	HP:0002510	Spastic tetraplegia
79133	NDUFAF5	HP:0001347	Hyperreflexia
79133	NDUFAF5	HP:0001332	Dystonia
79133	NDUFAF5	HP:0001324	Muscle weakness
79133	NDUFAF5	HP:0000007	Autosomal recessive inheritance
79133	NDUFAF5	HP:0002650	Scoliosis
79133	NDUFAF5	HP:0008972	Decreased activity of mitochondrial respiratory chain
79133	NDUFAF5	HP:0000114	Proximal tubulopathy
79133	NDUFAF5	HP:0002013	Vomiting
79133	NDUFAF5	HP:0002093	Respiratory insufficiency
79133	NDUFAF5	HP:0002073	Progressive cerebellar ataxia
79133	NDUFAF5	HP:0002151	Increased serum lactate
79133	NDUFAF5	HP:0002104	Apnea
79133	NDUFAF5	HP:0011923	Decreased activity of mitochondrial complex I
79133	NDUFAF5	HP:0002240	Hepatomegaly
79133	NDUFAF5	HP:0003542	Increased serum pyruvate
79133	NDUFAF5	HP:0007020	Progressive spastic paraplegia
79133	NDUFAF5	HP:0011968	Feeding difficulties
79133	NDUFAF5	HP:0008316	Abnormal mitochondria in muscle tissue
79133	NDUFAF5	HP:0002342	Intellectual disability, moderate
79133	NDUFAF5	HP:0002340	Caudate atrophy
79133	NDUFAF5	HP:0002352	Leukoencephalopathy
79133	NDUFAF5	HP:0009830	Peripheral neuropathy
79133	NDUFAF5	HP:0007183	Focal T2 hyperintense basal ganglia lesion
79133	NDUFAF5	HP:0000639	Nystagmus
79133	NDUFAF5	HP:0000648	Optic atrophy
79133	NDUFAF5	HP:0000618	Blindness
79133	NDUFAF5	HP:0001943	Hypoglycemia
79133	NDUFAF5	HP:0001941	Acidosis
79133	NDUFAF5	HP:0000602	Ophthalmoplegia
79133	NDUFAF5	HP:0001903	Anemia
79133	NDUFAF5	HP:0012748	Focal T2 hyperintense brainstem lesion
79133	NDUFAF5	HP:0100022	Abnormality of movement
79133	NDUFAF5	HP:0000712	Emotional lability
79133	NDUFAF5	HP:0009112	Aplasia of the left hemidiaphragm
79133	NDUFAF5	HP:0003128	Lactic acidosis
79133	NDUFAF5	HP:0000846	Adrenal insufficiency
79133	NDUFAF5	HP:0000819	Diabetes mellitus
79133	NDUFAF5	HP:0000817	Reduced eye contact
79133	NDUFAF5	HP:0000998	Hypertrichosis
79133	NDUFAF5	HP:0007704	Paroxysmal involuntary eye movements
79133	NDUFAF5	HP:0000252	Microcephaly
79133	NDUFAF5	HP:0001508	Failure to thrive
79133	NDUFAF5	HP:0001511	Intrauterine growth retardation
79133	NDUFAF5	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
79133	NDUFAF5	HP:0000365	Hearing impairment
79133	NDUFAF5	HP:0001629	Ventricular septal defect
79133	NDUFAF5	HP:0001639	Hypertrophic cardiomyopathy
79133	NDUFAF5	HP:0000407	Sensorineural hearing impairment
79133	NDUFAF5	HP:0000486	Strabismus
79133	NDUFAF5	HP:0000508	Ptosis
79133	NDUFAF5	HP:0000580	Pigmentary retinopathy
79133	NDUFAF5	HP:0000543	Optic disc pallor
79140	CCDC28B	HP:0001156	Brachydactyly
79140	CCDC28B	HP:0001162	Postaxial hand polydactyly
79140	CCDC28B	HP:0001159	Syndactyly
79140	CCDC28B	HP:0001251	Ataxia
79140	CCDC28B	HP:0001249	Intellectual disability
79140	CCDC28B	HP:0001263	Global developmental delay
79140	CCDC28B	HP:0008734	Decreased testicular size
79140	CCDC28B	HP:0001395	Hepatic fibrosis
79140	CCDC28B	HP:0000077	Abnormality of the kidney
79140	CCDC28B	HP:0000054	Micropenis
79140	CCDC28B	HP:0001328	Specific learning disability
79140	CCDC28B	HP:0000007	Autosomal recessive inheritance
79140	CCDC28B	HP:0000135	Hypogonadism
79140	CCDC28B	HP:0000137	Abnormality of the ovary
79140	CCDC28B	HP:0000148	Vaginal atresia
79140	CCDC28B	HP:0007663	Reduced visual acuity
79140	CCDC28B	HP:0002705	High, narrow palate
79140	CCDC28B	HP:0002099	Asthma
79140	CCDC28B	HP:0009466	Radial deviation of finger
79140	CCDC28B	HP:0002141	Gait imbalance
79140	CCDC28B	HP:0003577	Congenital onset
79140	CCDC28B	HP:0002251	Aganglionic megacolon
79140	CCDC28B	HP:0002370	Poor coordination
79140	CCDC28B	HP:0001007	Hirsutism
79140	CCDC28B	HP:0009806	Nephrogenic diabetes insipidus
79140	CCDC28B	HP:0001080	Biliary tract abnormality
79140	CCDC28B	HP:0000639	Nystagmus
79140	CCDC28B	HP:0001956	Truncal obesity
79140	CCDC28B	HP:0000678	Dental crowding
79140	CCDC28B	HP:0000662	Nyctalopia
79140	CCDC28B	HP:0000668	Hypodontia
79140	CCDC28B	HP:0030631	Hyperautofluorescent macular lesion
79140	CCDC28B	HP:0012743	Abdominal obesity
79140	CCDC28B	HP:0000750	Delayed speech and language development
79140	CCDC28B	HP:0000855	Insulin resistance
79140	CCDC28B	HP:0000819	Diabetes mellitus
79140	CCDC28B	HP:0000822	Hypertension
79140	CCDC28B	HP:0100259	Postaxial polydactyly
79140	CCDC28B	HP:0000256	Macrocephaly
79140	CCDC28B	HP:0007737	Bone spicule pigmentation of the retina
79140	CCDC28B	HP:0000218	High palate
79140	CCDC28B	HP:0001513	Obesity
79140	CCDC28B	HP:0007843	Attenuation of retinal blood vessels
79140	CCDC28B	HP:0012393	Allergy
79140	CCDC28B	HP:0000365	Hearing impairment
79140	CCDC28B	HP:0007994	Peripheral visual field loss
79140	CCDC28B	HP:0001712	Left ventricular hypertrophy
79140	CCDC28B	HP:0000483	Astigmatism
79140	CCDC28B	HP:0000486	Strabismus
79140	CCDC28B	HP:0001773	Short foot
79140	CCDC28B	HP:0001769	Broad foot
79140	CCDC28B	HP:0000518	Cataract
79140	CCDC28B	HP:0000510	Rod-cone dystrophy
79140	CCDC28B	HP:0001829	Foot polydactyly
79140	CCDC28B	HP:0001830	Postaxial foot polydactyly
79140	CCDC28B	HP:0000501	Glaucoma
79140	CCDC28B	HP:0000556	Retinal dystrophy
79140	CCDC28B	HP:0000546	Retinal degeneration
79140	CCDC28B	HP:0000545	Myopia
79143	MBOAT7	HP:0001290	Generalized hypotonia
79143	MBOAT7	HP:0001276	Hypertonia
79143	MBOAT7	HP:0001250	Seizure
79143	MBOAT7	HP:0001249	Intellectual disability
79143	MBOAT7	HP:0001263	Global developmental delay
79143	MBOAT7	HP:0007359	Focal-onset seizure
79143	MBOAT7	HP:0002540	Inability to walk
79143	MBOAT7	HP:0001347	Hyperreflexia
79143	MBOAT7	HP:0001344	Absent speech
79143	MBOAT7	HP:0000007	Autosomal recessive inheritance
79143	MBOAT7	HP:0008936	Axial hypotonia
79143	MBOAT7	HP:0002123	Generalized myoclonic seizure
79143	MBOAT7	HP:0002126	Polymicrogyria
79143	MBOAT7	HP:0002197	Generalized-onset seizure
79143	MBOAT7	HP:0003593	Infantile onset
79143	MBOAT7	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
79143	MBOAT7	HP:0031936	Delayed ability to walk
79143	MBOAT7	HP:0000729	Autistic behavior
79143	MBOAT7	HP:0000252	Microcephaly
79147	FKRP	HP:0002465	Poor speech
79147	FKRP	HP:0003797	Limb-girdle muscle atrophy
79147	FKRP	HP:0002438	Cerebellar malformation
79147	FKRP	HP:0002435	Meningocele
79147	FKRP	HP:0001105	Retinal atrophy
79147	FKRP	HP:0007260	Type II lissencephaly
79147	FKRP	HP:0007256	Abnormal pyramidal sign
79147	FKRP	HP:0010864	Intellectual disability, severe
79147	FKRP	HP:0008551	Microtia
79147	FKRP	HP:0007227	Macrogyria
79147	FKRP	HP:0009879	Simplified gyral pattern
79147	FKRP	HP:0002421	Poor head control
79147	FKRP	HP:0003749	Pelvic girdle muscle weakness
79147	FKRP	HP:0003724	Shoulder girdle muscle atrophy
79147	FKRP	HP:0003741	Congenital muscular dystrophy
79147	FKRP	HP:0003733	Thigh hypertrophy
79147	FKRP	HP:0003707	Calf muscle pseudohypertrophy
79147	FKRP	HP:0003701	Proximal muscle weakness
79147	FKRP	HP:0003712	Skeletal muscle hypertrophy
79147	FKRP	HP:0007291	Posterior fossa cyst
79147	FKRP	HP:0001290	Generalized hypotonia
79147	FKRP	HP:0001276	Hypertonia
79147	FKRP	HP:0001272	Cerebellar atrophy
79147	FKRP	HP:0001274	Agenesis of corpus callosum
79147	FKRP	HP:0001270	Motor delay
79147	FKRP	HP:0001288	Gait disturbance
79147	FKRP	HP:0001284	Areflexia
79147	FKRP	HP:0001256	Intellectual disability, mild
79147	FKRP	HP:0001250	Seizure
79147	FKRP	HP:0001252	Hypotonia
79147	FKRP	HP:0001249	Intellectual disability
79147	FKRP	HP:0001265	Hyporeflexia
79147	FKRP	HP:0001263	Global developmental delay
79147	FKRP	HP:0001262	Excessive daytime somnolence
79147	FKRP	HP:0008736	Hypoplasia of penis
79147	FKRP	HP:0007360	Aplasia/Hypoplasia of the cerebellum
79147	FKRP	HP:0007361	Abnormal pons morphology
79147	FKRP	HP:0002536	Abnormal cortical gyration
79147	FKRP	HP:0002518	Abnormal periventricular white matter morphology
79147	FKRP	HP:0002515	Waddling gait
79147	FKRP	HP:0003828	Variable expressivity
79147	FKRP	HP:0002505	Loss of ambulation
79147	FKRP	HP:0002500	Abnormal cerebral white matter morphology
79147	FKRP	HP:0032341	Reduced forced vital capacity
79147	FKRP	HP:0003819	Death in childhood
79147	FKRP	HP:0000054	Micropenis
79147	FKRP	HP:0000050	Hypoplastic male external genitalia
79147	FKRP	HP:0001349	Facial diplegia
79147	FKRP	HP:0001347	Hyperreflexia
79147	FKRP	HP:0001360	Holoprosencephaly
79147	FKRP	HP:0000028	Cryptorchidism
79147	FKRP	HP:0008872	Feeding difficulties in infancy
79147	FKRP	HP:0001331	Absent septum pellucidum
79147	FKRP	HP:0001328	Specific learning disability
79147	FKRP	HP:0001324	Muscle weakness
79147	FKRP	HP:0001344	Absent speech
79147	FKRP	HP:0001339	Lissencephaly
79147	FKRP	HP:0000007	Autosomal recessive inheritance
79147	FKRP	HP:0001305	Dandy-Walker malformation
79147	FKRP	HP:0001302	Pachygyria
79147	FKRP	HP:0001320	Cerebellar vermis hypoplasia
79147	FKRP	HP:0002650	Scoliosis
79147	FKRP	HP:0001321	Cerebellar hypoplasia
79147	FKRP	HP:0001317	Abnormal cerebellum morphology
79147	FKRP	HP:0001319	Neonatal hypotonia
79147	FKRP	HP:0001315	Reduced tendon reflexes
79147	FKRP	HP:0000193	Bifid uvula
79147	FKRP	HP:0000158	Macroglossia
79147	FKRP	HP:0000176	Submucous cleft hard palate
79147	FKRP	HP:0000175	Cleft palate
79147	FKRP	HP:0008981	Calf muscle hypertrophy
79147	FKRP	HP:0008947	Infantile muscular hypotonia
79147	FKRP	HP:0012110	Hypoplasia of the pons
79147	FKRP	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
79147	FKRP	HP:0000110	Renal dysplasia
79147	FKRP	HP:0002751	Kyphoscoliosis
79147	FKRP	HP:0002023	Anal atresia
79147	FKRP	HP:0003327	Axial muscle weakness
79147	FKRP	HP:0003325	Limb-girdle muscle weakness
79147	FKRP	HP:0003326	Myalgia
79147	FKRP	HP:0002015	Dysphagia
79147	FKRP	HP:0003307	Hyperlordosis
79147	FKRP	HP:0004637	Decreased cervical spine mobility
79147	FKRP	HP:0003324	Generalized muscle weakness
79147	FKRP	HP:0002085	Occipital encephalocele
79147	FKRP	HP:0100543	Cognitive impairment
79147	FKRP	HP:0002093	Respiratory insufficiency
79147	FKRP	HP:0002091	Restrictive ventilatory defect
79147	FKRP	HP:0003394	Muscle spasm
79147	FKRP	HP:0002079	Hypoplasia of the corpus callosum
79147	FKRP	HP:0008180	Mildly elevated creatine kinase
79147	FKRP	HP:0002120	Cerebral cortical atrophy
79147	FKRP	HP:0002119	Ventriculomegaly
79147	FKRP	HP:0003457	EMG abnormality
79147	FKRP	HP:0002126	Polymicrogyria
79147	FKRP	HP:0003458	EMG: myopathic abnormalities
79147	FKRP	HP:0002187	Intellectual disability, profound
79147	FKRP	HP:0002198	Dilated fourth ventricle
79147	FKRP	HP:0002194	Delayed gross motor development
79147	FKRP	HP:0002169	Clonus
79147	FKRP	HP:0002167	Abnormality of speech or vocalization
79147	FKRP	HP:0010508	Metatarsus valgus
79147	FKRP	HP:0002269	Abnormality of neuronal migration
79147	FKRP	HP:0003577	Congenital onset
79147	FKRP	HP:0003551	Difficulty climbing stairs
79147	FKRP	HP:0003549	Abnormality of connective tissue
79147	FKRP	HP:0003547	Shoulder girdle muscle weakness
79147	FKRP	HP:0003560	Muscular dystrophy
79147	FKRP	HP:0002282	Gray matter heterotopia
79147	FKRP	HP:0007033	Cerebellar dysplasia
79147	FKRP	HP:0007015	Poor gross motor coordination
79147	FKRP	HP:0011968	Feeding difficulties
79147	FKRP	HP:0010628	Facial palsy
79147	FKRP	HP:0008305	Exercise-induced myoglobinuria
79147	FKRP	HP:0002365	Hypoplasia of the brainstem
79147	FKRP	HP:0002363	Abnormal brainstem morphology
79147	FKRP	HP:0002359	Frequent falls
79147	FKRP	HP:0002335	Agenesis of cerebellar vermis
79147	FKRP	HP:0002355	Difficulty walking
79147	FKRP	HP:0002353	EEG abnormality
79147	FKRP	HP:0002350	Cerebellar cyst
79147	FKRP	HP:0002334	Abnormal cerebellar vermis morphology
79147	FKRP	HP:0007204	Diffuse white matter abnormalities
79147	FKRP	HP:0007126	Proximal amyotrophy
79147	FKRP	HP:0008443	Neuropathic spinal arthropathy
79147	FKRP	HP:0003623	Neonatal onset
79147	FKRP	HP:0006829	Severe muscular hypotonia
79147	FKRP	HP:0031882	Agyria
79147	FKRP	HP:0006899	Fusion of the cerebellar hemispheres
79147	FKRP	HP:0006888	Meningoencephalocele
79147	FKRP	HP:0000648	Optic atrophy
79147	FKRP	HP:0000618	Blindness
79147	FKRP	HP:0000612	Iris coloboma
79147	FKRP	HP:0000609	Optic nerve hypoplasia
79147	FKRP	HP:0012695	Decreased thalamic volume
79147	FKRP	HP:0009046	Difficulty running
79147	FKRP	HP:0000659	Peters anomaly
79147	FKRP	HP:0006955	Olivopontocerebellar hypoplasia
79147	FKRP	HP:0004374	Hemiplegia/hemiparesis
79147	FKRP	HP:0100022	Abnormality of movement
79147	FKRP	HP:0000707	Abnormality of the nervous system
79147	FKRP	HP:0012793	Kinked brainstem
79147	FKRP	HP:0003198	Myopathy
79147	FKRP	HP:0040081	Abnormal circulating creatine kinase concentration
79147	FKRP	HP:0003236	Elevated circulating creatine kinase concentration
79147	FKRP	HP:0003202	Skeletal muscle atrophy
79147	FKRP	HP:0045040	Abnormal lactate dehydrogenase level
79147	FKRP	HP:0034391	Elbow contracture
79147	FKRP	HP:0040173	Abnormality of the tongue muscle
79147	FKRP	HP:0000298	Mask-like facies
79147	FKRP	HP:0000294	Low anterior hairline
79147	FKRP	HP:0000256	Macrocephaly
79147	FKRP	HP:0005109	Abnormality of the Achilles tendon
79147	FKRP	HP:0007731	Chorioretinal dysplasia
79147	FKRP	HP:0002827	Hip dislocation
79147	FKRP	HP:0002828	Multiple joint contractures
79147	FKRP	HP:0002808	Kyphosis
79147	FKRP	HP:0002803	Congenital contracture
79147	FKRP	HP:0030092	Reduced muscle fiber merosin
79147	FKRP	HP:0030099	Reduced muscle fiber alpha dystroglycan
79147	FKRP	HP:0000238	Hydrocephalus
79147	FKRP	HP:0000252	Microcephaly
79147	FKRP	HP:0002878	Respiratory failure
79147	FKRP	HP:0002877	Nocturnal hypoventilation
79147	FKRP	HP:0000204	Cleft upper lip
79147	FKRP	HP:0030046	Hypoglycosylation of alpha-dystroglycan
79147	FKRP	HP:0030051	Tip-toe gait
79147	FKRP	HP:0001608	Abnormality of the voice
79147	FKRP	HP:0002938	Lumbar hyperlordosis
79147	FKRP	HP:0002948	Vertebral fusion
79147	FKRP	HP:0030197	Fatigable weakness of skeletal muscles
79147	FKRP	HP:0005162	Abnormal left ventricular function
79147	FKRP	HP:0000358	Posteriorly rotated ears
79147	FKRP	HP:0000369	Low-set ears
79147	FKRP	HP:0000340	Sloping forehead
79147	FKRP	HP:0000347	Micrognathia
79147	FKRP	HP:0001644	Dilated cardiomyopathy
79147	FKRP	HP:0001638	Cardiomyopathy
79147	FKRP	HP:0007957	Corneal opacity
79147	FKRP	HP:0030319	Weakness of facial musculature
79147	FKRP	HP:0007973	Retinal dysplasia
79147	FKRP	HP:0001712	Left ventricular hypertrophy
79147	FKRP	HP:0000486	Strabismus
79147	FKRP	HP:0000485	Megalocornea
79147	FKRP	HP:0000482	Microcornea
79147	FKRP	HP:0000478	Abnormality of the eye
79147	FKRP	HP:0012443	Abnormality of brain morphology
79147	FKRP	HP:0001771	Achilles tendon contracture
79147	FKRP	HP:0012400	Abnormal circulating aldolase concentration
79147	FKRP	HP:0000411	Protruding ear
79147	FKRP	HP:0000413	Atresia of the external auditory canal
79147	FKRP	HP:0000518	Cataract
79147	FKRP	HP:0000528	Anophthalmia
79147	FKRP	HP:0000525	Abnormality iris morphology
79147	FKRP	HP:0000505	Visual impairment
79147	FKRP	HP:0000501	Glaucoma
79147	FKRP	HP:0000580	Pigmentary retinopathy
79147	FKRP	HP:0000587	Abnormal optic nerve morphology
79147	FKRP	HP:0000589	Coloboma
79147	FKRP	HP:0012548	Fatty replacement of skeletal muscle
79147	FKRP	HP:0000557	Buphthalmos
79147	FKRP	HP:0000556	Retinal dystrophy
79147	FKRP	HP:0000568	Microphthalmia
79147	FKRP	HP:0000541	Retinal detachment
79147	FKRP	HP:0000545	Myopia
79152	FA2H	HP:0002478	Progressive spastic quadriplegia
79152	FA2H	HP:0002493	Upper motor neuron dysfunction
79152	FA2H	HP:0002454	Eye of the tiger anomaly of globus pallidus
79152	FA2H	HP:0001123	Visual field defect
79152	FA2H	HP:0007325	Generalized dystonia
79152	FA2H	HP:0007302	Bipolar affective disorder
79152	FA2H	HP:0007240	Progressive gait ataxia
79152	FA2H	HP:0002427	Expressive aphasia
79152	FA2H	HP:0002425	Anarthria
79152	FA2H	HP:0001272	Cerebellar atrophy
79152	FA2H	HP:0001268	Mental deterioration
79152	FA2H	HP:0001285	Spastic tetraparesis
79152	FA2H	HP:0001250	Seizure
79152	FA2H	HP:0001251	Ataxia
79152	FA2H	HP:0001249	Intellectual disability
79152	FA2H	HP:0001260	Dysarthria
79152	FA2H	HP:0001258	Spastic paraplegia
79152	FA2H	HP:0007371	Corpus callosum atrophy
79152	FA2H	HP:0007366	Atrophy/Degeneration affecting the brainstem
79152	FA2H	HP:0007359	Focal-onset seizure
79152	FA2H	HP:0002518	Abnormal periventricular white matter morphology
79152	FA2H	HP:0002527	Falls
79152	FA2H	HP:0002505	Loss of ambulation
79152	FA2H	HP:0000020	Urinary incontinence
79152	FA2H	HP:0001347	Hyperreflexia
79152	FA2H	HP:0001332	Dystonia
79152	FA2H	HP:0033725	Thin corpus callosum
79152	FA2H	HP:0000012	Urinary urgency
79152	FA2H	HP:0000007	Autosomal recessive inheritance
79152	FA2H	HP:0001310	Dysmetria
79152	FA2H	HP:0002607	Bowel incontinence
79152	FA2H	HP:0002015	Dysphagia
79152	FA2H	HP:0100543	Cognitive impairment
79152	FA2H	HP:0002069	Bilateral tonic-clonic seizure
79152	FA2H	HP:0002061	Lower limb spasticity
79152	FA2H	HP:0002079	Hypoplasia of the corpus callosum
79152	FA2H	HP:0002075	Dysdiadochokinesis
79152	FA2H	HP:0100515	Pollakisuria
79152	FA2H	HP:0003487	Babinski sign
79152	FA2H	HP:0002120	Cerebral cortical atrophy
79152	FA2H	HP:0002180	Neurodegeneration
79152	FA2H	HP:0010677	Enuresis nocturna
79152	FA2H	HP:0007020	Progressive spastic paraplegia
79152	FA2H	HP:0002359	Frequent falls
79152	FA2H	HP:0003676	Progressive
79152	FA2H	HP:0002355	Difficulty walking
79152	FA2H	HP:0009830	Peripheral neuropathy
79152	FA2H	HP:0007153	Progressive extrapyramidal movement disorder
79152	FA2H	HP:0003621	Juvenile onset
79152	FA2H	HP:0007199	Progressive spastic paraparesis
79152	FA2H	HP:0006855	Cerebellar vermis atrophy
79152	FA2H	HP:0006827	Atrophy of the spinal cord
79152	FA2H	HP:0006895	Lower limb hypertonia
79152	FA2H	HP:0006879	Pontocerebellar atrophy
79152	FA2H	HP:0000639	Nystagmus
79152	FA2H	HP:0000648	Optic atrophy
79152	FA2H	HP:0000605	Supranuclear gaze palsy
79152	FA2H	HP:0000602	Ophthalmoplegia
79152	FA2H	HP:0009027	Foot dorsiflexor weakness
79152	FA2H	HP:0000657	Oculomotor apraxia
79152	FA2H	HP:0000666	Horizontal nystagmus
79152	FA2H	HP:0005656	Positional foot deformity
79152	FA2H	HP:0006978	Dysmyelinating leukodystrophy
79152	FA2H	HP:0000739	Anxiety
79152	FA2H	HP:0000716	Depression
79152	FA2H	HP:0030584	Color vision test abnormality
79152	FA2H	HP:0011463	Childhood onset
79152	FA2H	HP:0011448	Ankle clonus
79152	FA2H	HP:0000298	Mask-like facies
79152	FA2H	HP:0002808	Kyphosis
79152	FA2H	HP:0011096	Peripheral demyelination
79152	FA2H	HP:0007924	Slow decrease in visual acuity
79152	FA2H	HP:0000486	Strabismus
79152	FA2H	HP:0000467	Neck muscle weakness
79152	FA2H	HP:0000544	External ophthalmoplegia
79158	GNPTAB	HP:0001171	Split hand
79158	GNPTAB	HP:0002465	Poor speech
79158	GNPTAB	HP:0002474	Expressive language delay
79158	GNPTAB	HP:0002421	Poor head control
79158	GNPTAB	HP:0001290	Generalized hypotonia
79158	GNPTAB	HP:0001270	Motor delay
79158	GNPTAB	HP:0001252	Hypotonia
79158	GNPTAB	HP:0001249	Intellectual disability
79158	GNPTAB	HP:0001265	Hyporeflexia
79158	GNPTAB	HP:0001263	Global developmental delay
79158	GNPTAB	HP:0007421	Telangiectases of the cheeks
79158	GNPTAB	HP:0002540	Inability to walk
79158	GNPTAB	HP:0003819	Death in childhood
79158	GNPTAB	HP:0001376	Limitation of joint mobility
79158	GNPTAB	HP:0001385	Hip dysplasia
79158	GNPTAB	HP:0000023	Inguinal hernia
79158	GNPTAB	HP:0002684	Thickened calvaria
79158	GNPTAB	HP:0002680	J-shaped sella turcica
79158	GNPTAB	HP:0001363	Craniosynostosis
79158	GNPTAB	HP:0002690	Large sella turcica
79158	GNPTAB	HP:0008897	Postnatal growth retardation
79158	GNPTAB	HP:0006203	Decreased movement range in interphalangeal joints
79158	GNPTAB	HP:0008850	Severe postnatal growth retardation
79158	GNPTAB	HP:0006162	Soft tissue swelling of interphalangeal joints
79158	GNPTAB	HP:0033725	Thin corpus callosum
79158	GNPTAB	HP:0001328	Specific learning disability
79158	GNPTAB	HP:0002673	Coxa valga
79158	GNPTAB	HP:0000007	Autosomal recessive inheritance
79158	GNPTAB	HP:0002650	Scoliosis
79158	GNPTAB	HP:0001319	Neonatal hypotonia
79158	GNPTAB	HP:0012185	Constrictive median neuropathy
79158	GNPTAB	HP:0001498	Carpal bone hypoplasia
79158	GNPTAB	HP:0000158	Macroglossia
79158	GNPTAB	HP:0000154	Wide mouth
79158	GNPTAB	HP:0008936	Axial hypotonia
79158	GNPTAB	HP:0006248	Limited wrist movement
79158	GNPTAB	HP:0002756	Pathologic fracture
79158	GNPTAB	HP:0001433	Hepatosplenomegaly
79158	GNPTAB	HP:0000105	Enlarged kidney
79158	GNPTAB	HP:0003333	Increased serum beta-hexosaminidase
79158	GNPTAB	HP:0003311	Hypoplasia of the odontoid process
79158	GNPTAB	HP:0003300	Ovoid vertebral bodies
79158	GNPTAB	HP:0004626	Lumbar scoliosis
79158	GNPTAB	HP:0100540	Palpebral edema
79158	GNPTAB	HP:0100543	Cognitive impairment
79158	GNPTAB	HP:0002091	Restrictive ventilatory defect
79158	GNPTAB	HP:0010444	Pulmonary insufficiency
79158	GNPTAB	HP:0008155	Mucopolysacchariduria
79158	GNPTAB	HP:0002120	Cerebral cortical atrophy
79158	GNPTAB	HP:0003423	Thoracolumbar kyphoscoliosis
79158	GNPTAB	HP:0003414	Atlantoaxial dislocation
79158	GNPTAB	HP:0002196	Myelopathy
79158	GNPTAB	HP:0003593	Infantile onset
79158	GNPTAB	HP:0002240	Hepatomegaly
79158	GNPTAB	HP:0004887	Respiratory failure requiring assisted ventilation
79158	GNPTAB	HP:0002213	Fine hair
79158	GNPTAB	HP:0003538	Increased iduronate sulfatase level
79158	GNPTAB	HP:0002205	Recurrent respiratory infections
79158	GNPTAB	HP:0002299	Brittle hair
79158	GNPTAB	HP:0001048	Cavernous hemangioma
79158	GNPTAB	HP:0001010	Hypopigmentation of the skin
79158	GNPTAB	HP:0001072	Thickened skin
79158	GNPTAB	HP:0008491	Premature anterior fontanel closure
79158	GNPTAB	HP:0008470	Lower thoracic interpediculate narrowness
79158	GNPTAB	HP:0009769	Bullet-shaped phalanges of the hand
79158	GNPTAB	HP:0003621	Juvenile onset
79158	GNPTAB	HP:0009092	Progressive alveolar ridge hypertropy
79158	GNPTAB	HP:0004236	Irregular carpal bones
79158	GNPTAB	HP:0011359	Dry hair
79158	GNPTAB	HP:0011364	White hair
79158	GNPTAB	HP:0011344	Severe global developmental delay
79158	GNPTAB	HP:0011314	Abnormal long bone morphology
79158	GNPTAB	HP:0004322	Short stature
79158	GNPTAB	HP:0030680	Abnormality of cardiovascular system morphology
79158	GNPTAB	HP:0003016	Metaphyseal widening
79158	GNPTAB	HP:0003026	Short long bone
79158	GNPTAB	HP:0031936	Delayed ability to walk
79158	GNPTAB	HP:0000767	Pectus excavatum
79158	GNPTAB	HP:0011471	Gastrostomy tube feeding in infancy
79158	GNPTAB	HP:0011463	Childhood onset
79158	GNPTAB	HP:0011461	Fetal onset
79158	GNPTAB	HP:0000774	Narrow chest
79158	GNPTAB	HP:0000773	Short ribs
79158	GNPTAB	HP:0003182	Shallow acetabular fossae
79158	GNPTAB	HP:0003180	Flat acetabular roof
79158	GNPTAB	HP:0000882	Hypoplastic scapulae
79158	GNPTAB	HP:0000885	Broad ribs
79158	GNPTAB	HP:0004562	Beaking of vertebral bodies T12-L3
79158	GNPTAB	HP:0045027	Abnormality of the thoracic cavity
79158	GNPTAB	HP:0003273	Hip contracture
79158	GNPTAB	HP:0045075	Sparse eyebrow
79158	GNPTAB	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase
79158	GNPTAB	HP:0010307	Stridor
79158	GNPTAB	HP:0000938	Osteopenia
79158	GNPTAB	HP:0000943	Dysostosis multiplex
79158	GNPTAB	HP:0008070	Sparse hair
79158	GNPTAB	HP:0000286	Epicanthus
79158	GNPTAB	HP:0000280	Coarse facial features
79158	GNPTAB	HP:0006467	Limited shoulder movement
79158	GNPTAB	HP:0007759	Opacification of the corneal stroma
79158	GNPTAB	HP:0002827	Hip dislocation
79158	GNPTAB	HP:0002808	Kyphosis
79158	GNPTAB	HP:0002804	Arthrogryposis multiplex congenita
79158	GNPTAB	HP:0006380	Knee flexion contracture
79158	GNPTAB	HP:0006362	Varus deformity of humeral neck
79158	GNPTAB	HP:0000243	Trigonocephaly
79158	GNPTAB	HP:0001547	Abnormal rib cage morphology
79158	GNPTAB	HP:0000212	Gingival overgrowth
79158	GNPTAB	HP:0001562	Oligohydramnios
79158	GNPTAB	HP:0001540	Diastasis recti
79158	GNPTAB	HP:0002870	Obstructive sleep apnea
79158	GNPTAB	HP:0002869	Flared iliac wing
79158	GNPTAB	HP:0001537	Umbilical hernia
79158	GNPTAB	HP:0001538	Protuberant abdomen
79158	GNPTAB	HP:0001508	Failure to thrive
79158	GNPTAB	HP:0030043	Hip subluxation
79158	GNPTAB	HP:0002837	Recurrent bronchitis
79158	GNPTAB	HP:0030051	Tip-toe gait
79158	GNPTAB	HP:0001510	Growth delay
79158	GNPTAB	HP:0012389	Appendicular hypotonia
79158	GNPTAB	HP:0012385	Camptodactyly
79158	GNPTAB	HP:0012368	Flat face
79158	GNPTAB	HP:0000388	Otitis media
79158	GNPTAB	HP:0006596	Restricted chest movement
79158	GNPTAB	HP:0006532	Recurrent pneumonia
79158	GNPTAB	HP:0001609	Hoarse voice
79158	GNPTAB	HP:0000341	Narrow forehead
79158	GNPTAB	HP:0000343	Long philtrum
79158	GNPTAB	HP:0000348	High forehead
79158	GNPTAB	HP:0000347	Micrognathia
79158	GNPTAB	HP:0000316	Hypertelorism
79158	GNPTAB	HP:0001646	Abnormal aortic valve morphology
79158	GNPTAB	HP:0030148	Heart murmur
79158	GNPTAB	HP:0001659	Aortic regurgitation
79158	GNPTAB	HP:0001653	Mitral regurgitation
79158	GNPTAB	HP:0001655	Patent foramen ovale
79158	GNPTAB	HP:0001640	Cardiomegaly
79158	GNPTAB	HP:0001639	Hypertrophic cardiomyopathy
79158	GNPTAB	HP:0001635	Congestive heart failure
79158	GNPTAB	HP:0001638	Cardiomyopathy
79158	GNPTAB	HP:0000303	Mandibular prognathia
79158	GNPTAB	HP:0001633	Abnormal mitral valve morphology
79158	GNPTAB	HP:0006610	Wide intermamillary distance
79158	GNPTAB	HP:0031650	Abnormal atrioventricular valve physiology
79158	GNPTAB	HP:0000407	Sensorineural hearing impairment
79158	GNPTAB	HP:0000403	Recurrent otitis media
79158	GNPTAB	HP:0000405	Conductive hearing impairment
79158	GNPTAB	HP:0001712	Left ventricular hypertrophy
79158	GNPTAB	HP:0005280	Depressed nasal bridge
79158	GNPTAB	HP:0000484	Hyperopic astigmatism
79158	GNPTAB	HP:0000485	Megalocornea
79158	GNPTAB	HP:0000488	Retinopathy
79158	GNPTAB	HP:0000463	Anteverted nares
79158	GNPTAB	HP:0001744	Splenomegaly
79158	GNPTAB	HP:0001762	Talipes equinovarus
79158	GNPTAB	HP:0005487	Prominent metopic ridge
79158	GNPTAB	HP:0001824	Weight loss
79158	GNPTAB	HP:0000586	Shallow orbits
79158	GNPTAB	HP:0000546	Retinal degeneration
79184	BRCC3	HP:0001263	Global developmental delay
79184	BRCC3	HP:0008734	Decreased testicular size
79184	BRCC3	HP:0000027	Azoospermia
79184	BRCC3	HP:0001324	Muscle weakness
79184	BRCC3	HP:0001342	Cerebral hemorrhage
79184	BRCC3	HP:0002140	Ischemic stroke
79184	BRCC3	HP:0011834	Moyamoya phenomenon
79184	BRCC3	HP:0002216	Premature graying of hair
79184	BRCC3	HP:0001999	Abnormal facial shape
79184	BRCC3	HP:0004322	Short stature
79184	BRCC3	HP:0004302	Functional motor deficit
79184	BRCC3	HP:0000707	Abnormality of the nervous system
79184	BRCC3	HP:0000815	Hypergonadotropic hypogonadism
79184	BRCC3	HP:0000822	Hypertension
79184	BRCC3	HP:0000824	Decreased response to growth hormone stimulation test
79184	BRCC3	HP:0000823	Delayed puberty
79184	BRCC3	HP:0000278	Retrognathia
79184	BRCC3	HP:0000369	Low-set ears
79184	BRCC3	HP:0000343	Long philtrum
79184	BRCC3	HP:0001677	Coronary artery atherosclerosis
79184	BRCC3	HP:0000316	Hypertelorism
79184	BRCC3	HP:0001644	Dilated cardiomyopathy
79184	BRCC3	HP:0007970	Congenital ptosis
79184	BRCC3	HP:0000490	Deeply set eye
79184	BRCC3	HP:0000454	Flared nostrils
79184	BRCC3	HP:0000445	Wide nose
79184	BRCC3	HP:0000518	Cataract
79188	TMEM43	HP:0002486	Myotonia
79188	TMEM43	HP:0003701	Proximal muscle weakness
79188	TMEM43	HP:0001288	Gait disturbance
79188	TMEM43	HP:0001252	Hypotonia
79188	TMEM43	HP:0001249	Intellectual disability
79188	TMEM43	HP:0002515	Waddling gait
79188	TMEM43	HP:0003805	Rimmed vacuoles
79188	TMEM43	HP:0001387	Joint stiffness
79188	TMEM43	HP:0000006	Autosomal dominant inheritance
79188	TMEM43	HP:0002650	Scoliosis
79188	TMEM43	HP:0001315	Reduced tendon reflexes
79188	TMEM43	HP:0008994	Proximal muscle weakness in lower limbs
79188	TMEM43	HP:0008997	Proximal muscle weakness in upper limbs
79188	TMEM43	HP:0008948	Proximal upper limb amyotrophy
79188	TMEM43	HP:0008956	Proximal lower limb amyotrophy
79188	TMEM43	HP:0002747	Respiratory insufficiency due to muscle weakness
79188	TMEM43	HP:0003307	Hyperlordosis
79188	TMEM43	HP:0003306	Spinal rigidity
79188	TMEM43	HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
79188	TMEM43	HP:0011807	Type 1 muscle fiber atrophy
79188	TMEM43	HP:0002155	Hypertriglyceridemia
79188	TMEM43	HP:0003458	EMG: myopathic abnormalities
79188	TMEM43	HP:0004756	Ventricular tachycardia
79188	TMEM43	HP:0003418	Back pain
79188	TMEM43	HP:0003584	Late onset
79188	TMEM43	HP:0003581	Adult onset
79188	TMEM43	HP:0003560	Muscular dystrophy
79188	TMEM43	HP:0003557	Increased variability in muscle fiber diameter
79188	TMEM43	HP:0100749	Chest pain
79188	TMEM43	HP:0003691	Scapular winging
79188	TMEM43	HP:0003677	Slowly progressive
79188	TMEM43	HP:0100660	Dyskinesia
79188	TMEM43	HP:0007126	Proximal amyotrophy
79188	TMEM43	HP:0001962	Palpitations
79188	TMEM43	HP:0001963	Abnormal speech discrimination
79188	TMEM43	HP:0031972	Presyncope
79188	TMEM43	HP:0000767	Pectus excavatum
79188	TMEM43	HP:0011462	Young adult onset
79188	TMEM43	HP:0009125	Lipodystrophy
79188	TMEM43	HP:0003198	Myopathy
79188	TMEM43	HP:0000912	Sprengel anomaly
79188	TMEM43	HP:0003141	Increased LDL cholesterol concentration
79188	TMEM43	HP:0003236	Elevated circulating creatine kinase concentration
79188	TMEM43	HP:0003202	Skeletal muscle atrophy
79188	TMEM43	HP:0008064	Ichthyosis
79188	TMEM43	HP:0011663	Right ventricular cardiomyopathy
79188	TMEM43	HP:0005115	Supraventricular arrhythmia
79188	TMEM43	HP:0005110	Atrial fibrillation
79188	TMEM43	HP:0002808	Kyphosis
79188	TMEM43	HP:0030051	Tip-toe gait
79188	TMEM43	HP:0001513	Obesity
79188	TMEM43	HP:0001605	Vocal cord paralysis
79188	TMEM43	HP:0005155	Ventricular escape rhythm
79188	TMEM43	HP:0000365	Hearing impairment
79188	TMEM43	HP:0030117	Absent muscle fiber emerin
79188	TMEM43	HP:0001678	Atrioventricular block
79188	TMEM43	HP:0001645	Sudden cardiac death
79188	TMEM43	HP:0001644	Dilated cardiomyopathy
79188	TMEM43	HP:0001662	Bradycardia
79188	TMEM43	HP:0002987	Elbow flexion contracture
79188	TMEM43	HP:0001639	Hypertrophic cardiomyopathy
79188	TMEM43	HP:0001635	Congestive heart failure
79188	TMEM43	HP:0006682	Premature ventricular contraction
79188	TMEM43	HP:0006677	Prolonged QRS complex
79188	TMEM43	HP:0000467	Neck muscle weakness
79188	TMEM43	HP:0001771	Achilles tendon contracture
79188	TMEM43	HP:0006785	Limb-girdle muscular dystrophy
79188	TMEM43	HP:0000508	Ptosis
79228	THOC6	HP:0009890	High anterior hairline
79228	THOC6	HP:0010864	Intellectual disability, severe
79228	THOC6	HP:0001249	Intellectual disability
79228	THOC6	HP:0001263	Global developmental delay
79228	THOC6	HP:0000085	Horseshoe kidney
79228	THOC6	HP:0000077	Abnormality of the kidney
79228	THOC6	HP:0000054	Micropenis
79228	THOC6	HP:0000047	Hypospadias
79228	THOC6	HP:0001328	Specific learning disability
79228	THOC6	HP:0000010	Recurrent urinary tract infections
79228	THOC6	HP:0000007	Autosomal recessive inheritance
79228	THOC6	HP:0000164	Abnormality of the dentition
79228	THOC6	HP:0000122	Unilateral renal agenesis
79228	THOC6	HP:0000119	Abnormality of the genitourinary system
79228	THOC6	HP:0002023	Anal atresia
79228	THOC6	HP:0002119	Ventriculomegaly
79228	THOC6	HP:0008209	Premature ovarian insufficiency
79228	THOC6	HP:0003593	Infantile onset
79228	THOC6	HP:0003577	Congenital onset
79228	THOC6	HP:0009765	Low hanging columella
79228	THOC6	HP:0000689	Dental malocclusion
79228	THOC6	HP:0000670	Carious teeth
79228	THOC6	HP:0001999	Abnormal facial shape
79228	THOC6	HP:0006989	Dysplastic corpus callosum
79228	THOC6	HP:0012745	Short palpebral fissure
79228	THOC6	HP:0000750	Delayed speech and language development
79228	THOC6	HP:0003189	Long nose
79228	THOC6	HP:0010282	Thin lower lip vermilion
79228	THOC6	HP:0011623	Muscular ventricular septal defect
79228	THOC6	HP:0040196	Mild microcephaly
79228	THOC6	HP:0011682	Perimembranous ventricular septal defect
79228	THOC6	HP:0000286	Epicanthus
79228	THOC6	HP:0000278	Retrognathia
79228	THOC6	HP:0000252	Microcephaly
79228	THOC6	HP:0000220	Velopharyngeal insufficiency
79228	THOC6	HP:0000215	Thick upper lip vermilion
79228	THOC6	HP:0012385	Camptodactyly
79228	THOC6	HP:0012382	Left-to-right shunt
79228	THOC6	HP:0000365	Hearing impairment
79228	THOC6	HP:0000337	Broad forehead
79228	THOC6	HP:0030127	Endometriosis
79228	THOC6	HP:0000348	High forehead
79228	THOC6	HP:0000347	Micrognathia
79228	THOC6	HP:0000319	Smooth philtrum
79228	THOC6	HP:0001643	Patent ductus arteriosus
79228	THOC6	HP:0001629	Ventricular septal defect
79228	THOC6	HP:0001627	Abnormal heart morphology
79228	THOC6	HP:0000307	Pointed chin
79228	THOC6	HP:0001631	Atrial septal defect
79228	THOC6	HP:0000490	Deeply set eye
79228	THOC6	HP:0012443	Abnormality of brain morphology
79228	THOC6	HP:0001845	Overlapping toe
79228	THOC6	HP:0000582	Upslanted palpebral fissure
79228	THOC6	HP:0000545	Myopia
79258	MMEL1	HP:0001278	Orthostatic hypotension
79258	MMEL1	HP:0001262	Excessive daytime somnolence
79258	MMEL1	HP:0001399	Hepatic failure
79258	MMEL1	HP:0001395	Hepatic fibrosis
79258	MMEL1	HP:0001394	Cirrhosis
79258	MMEL1	HP:0002613	Biliary cirrhosis
79258	MMEL1	HP:0002608	Celiac disease
79258	MMEL1	HP:0012115	Hepatitis
79258	MMEL1	HP:0001409	Portal hypertension
79258	MMEL1	HP:0001402	Hepatocellular carcinoma
79258	MMEL1	HP:0003496	Increased circulating IgM level
79258	MMEL1	HP:0003493	Antinuclear antibody positivity
79258	MMEL1	HP:0011971	Dermatographic urticaria
79258	MMEL1	HP:0002360	Sleep disturbance
79258	MMEL1	HP:0003073	Hypoalbuminemia
79258	MMEL1	HP:0004386	Gastrointestinal inflammation
79258	MMEL1	HP:0003119	Abnormal circulating lipid concentration
79258	MMEL1	HP:0003155	Elevated circulating alkaline phosphatase concentration
79258	MMEL1	HP:0000820	Abnormality of the thyroid gland
79258	MMEL1	HP:0003270	Abdominal distention
79258	MMEL1	HP:0003261	Increased circulating IgA level
79258	MMEL1	HP:0000989	Pruritus
79258	MMEL1	HP:0000953	Hyperpigmentation of the skin
79258	MMEL1	HP:0000952	Jaundice
79258	MMEL1	HP:0000939	Osteoporosis
79258	MMEL1	HP:0012203	Onychomycosis
79258	MMEL1	HP:0001541	Ascites
79258	MMEL1	HP:0002841	Recurrent fungal infections
79258	MMEL1	HP:0012378	Fatigue
79258	MMEL1	HP:0011040	Abnormal intrahepatic bile duct morphology
79258	MMEL1	HP:0002908	Conjugated hyperbilirubinemia
79258	MMEL1	HP:0002960	Autoimmunity
79415	CYBC1	HP:0032252	Granuloma
79415	CYBC1	HP:0100806	Sepsis
79415	CYBC1	HP:0001287	Meningitis
79415	CYBC1	HP:0002575	Tracheoesophageal fistula
79415	CYBC1	HP:0000007	Autosomal recessive inheritance
79415	CYBC1	HP:0000155	Oral ulcer
79415	CYBC1	HP:0000100	Nephrotic syndrome
79415	CYBC1	HP:0001433	Hepatosplenomegaly
79415	CYBC1	HP:0002719	Recurrent infections
79415	CYBC1	HP:0002716	Lymphadenopathy
79415	CYBC1	HP:0002024	Malabsorption
79415	CYBC1	HP:0002021	Pyloric stenosis
79415	CYBC1	HP:0100523	Liver abscess
79415	CYBC1	HP:0100533	Inflammatory abnormality of the eye
79415	CYBC1	HP:0002240	Hepatomegaly
79415	CYBC1	HP:0002202	Pleural effusion
79415	CYBC1	HP:0002205	Recurrent respiratory infections
79415	CYBC1	HP:0002206	Pulmonary fibrosis
79415	CYBC1	HP:0100721	Mediastinal lymphadenopathy
79415	CYBC1	HP:0001034	Hypermelanotic macule
79415	CYBC1	HP:0200042	Skin ulcer
79415	CYBC1	HP:0009789	Perianal abscess
79415	CYBC1	HP:0001945	Fever
79415	CYBC1	HP:0004322	Short stature
79415	CYBC1	HP:0012733	Macule
79415	CYBC1	HP:0003203	Impaired oxidative burst
79415	CYBC1	HP:0000992	Cutaneous photosensitivity
79415	CYBC1	HP:0100280	Crohn's disease
79415	CYBC1	HP:0100279	Ulcerative colitis
79415	CYBC1	HP:0000964	Eczema
79415	CYBC1	HP:0000246	Sinusitis
79415	CYBC1	HP:0012203	Onychomycosis
79415	CYBC1	HP:0000230	Gingivitis
79415	CYBC1	HP:0002840	Lymphadenitis
79415	CYBC1	HP:0006510	Chronic pulmonary obstruction
79415	CYBC1	HP:0012390	Anal fissure
79415	CYBC1	HP:0000388	Otitis media
79415	CYBC1	HP:0006532	Recurrent pneumonia
79415	CYBC1	HP:0002923	Rheumatoid factor positive
79415	CYBC1	HP:0025615	Abscess
79415	CYBC1	HP:0001735	Acute pancreatitis
79415	CYBC1	HP:0011110	Recurrent tonsillitis
79415	CYBC1	HP:0001744	Splenomegaly
79415	CYBC1	HP:0001888	Lymphopenia
79415	CYBC1	HP:0001878	Hemolytic anemia
79415	CYBC1	HP:0001874	Abnormality of neutrophils
79443	FYCO1	HP:0000007	Autosomal recessive inheritance
79443	FYCO1	HP:0003593	Infantile onset
79443	FYCO1	HP:0003577	Congenital onset
79443	FYCO1	HP:0100018	Nuclear cataract
79572	ATP13A3	HP:0001279	Syncope
79572	ATP13A3	HP:0001324	Muscle weakness
79572	ATP13A3	HP:0000007	Autosomal recessive inheritance
79572	ATP13A3	HP:0002092	Pulmonary arterial hypertension
79572	ATP13A3	HP:0003388	Easy fatigability
79572	ATP13A3	HP:0003593	Infantile onset
79572	ATP13A3	HP:0003623	Neonatal onset
79572	ATP13A3	HP:0011463	Childhood onset
79572	ATP13A3	HP:0002875	Exertional dyspnea
79572	ATP13A3	HP:0012378	Fatigue
79572	ATP13A3	HP:0001667	Right ventricular hypertrophy
79572	ATP13A3	HP:0001681	Angina pectoris
79572	ATP13A3	HP:0001708	Right ventricular failure
79574	EPS8L3	HP:0002555	Absent pubic hair
79574	EPS8L3	HP:0100840	Aplasia/Hypoplasia of the eyebrow
79574	EPS8L3	HP:0000006	Autosomal dominant inheritance
79574	EPS8L3	HP:0000164	Abnormality of the dentition
79574	EPS8L3	HP:0003577	Congenital onset
79574	EPS8L3	HP:0002221	Absent axillary hair
79574	EPS8L3	HP:0200102	Sparse or absent eyelashes
79574	EPS8L3	HP:0002209	Sparse scalp hair
79574	EPS8L3	HP:0002208	Coarse hair
79574	EPS8L3	HP:0000653	Sparse eyelashes
79574	EPS8L3	HP:0045074	Thin eyebrow
79574	EPS8L3	HP:0000971	Abnormal sweat gland morphology
79574	EPS8L3	HP:0001597	Abnormality of the nail
79574	EPS8L3	HP:0001596	Alopecia
79574	EPS8L3	HP:0000364	Hearing abnormality
79576	NKAP	HP:0001166	Arachnodactyly
79576	NKAP	HP:0001252	Hypotonia
79576	NKAP	HP:0001263	Global developmental delay
79576	NKAP	HP:0001388	Joint laxity
79576	NKAP	HP:0000028	Cryptorchidism
79576	NKAP	HP:0002650	Scoliosis
79576	NKAP	HP:0002616	Aortic root aneurysm
79576	NKAP	HP:0000194	Open mouth
79576	NKAP	HP:0001419	X-linked recessive inheritance
79576	NKAP	HP:0011800	Midface retrusion
79576	NKAP	HP:0007018	Attention deficit hyperactivity disorder
79576	NKAP	HP:0012743	Abdominal obesity
79576	NKAP	HP:0000767	Pectus excavatum
79576	NKAP	HP:0000768	Pectus carinatum
79576	NKAP	HP:0000718	Aggressive behavior
79576	NKAP	HP:0000276	Long face
79576	NKAP	HP:0001519	Disproportionate tall stature
79576	NKAP	HP:0012385	Camptodactyly
79576	NKAP	HP:0000322	Short philtrum
79576	NKAP	HP:0001653	Mitral regurgitation
79576	NKAP	HP:0001629	Ventricular septal defect
79576	NKAP	HP:0001631	Atrial septal defect
79576	NKAP	HP:0000411	Protruding ear
79576	NKAP	HP:0001762	Talipes equinovarus
79577	CDC73	HP:0002574	Episodic abdominal pain
79577	CDC73	HP:0008696	Renal hamartoma
79577	CDC73	HP:0000083	Renal insufficiency
79577	CDC73	HP:0012032	Lipoma
79577	CDC73	HP:0001324	Muscle weakness
79577	CDC73	HP:0002667	Nephroblastoma
79577	CDC73	HP:0000006	Autosomal dominant inheritance
79577	CDC73	HP:0002653	Bone pain
79577	CDC73	HP:0000121	Nephrocalcinosis
79577	CDC73	HP:0000113	Polycystic kidney dysplasia
79577	CDC73	HP:0000131	Uterine leiomyoma
79577	CDC73	HP:0001428	Somatic mutation
79577	CDC73	HP:0000107	Renal cyst
79577	CDC73	HP:0002019	Constipation
79577	CDC73	HP:0002017	Nausea and vomiting
79577	CDC73	HP:0002015	Dysphagia
79577	CDC73	HP:0011766	Abnormality of the parathyroid morphology
79577	CDC73	HP:0002150	Hypercalciuria
79577	CDC73	HP:0002148	Hypophosphatemia
79577	CDC73	HP:0010566	Hamartoma
79577	CDC73	HP:0008200	Primary hyperparathyroidism
79577	CDC73	HP:0010614	Fibroma
79577	CDC73	HP:0002315	Headache
79577	CDC73	HP:0200025	Mandibular pain
79577	CDC73	HP:0010788	Testicular neoplasm
79577	CDC73	HP:0001959	Polydipsia
79577	CDC73	HP:0003072	Hypercalcemia
79577	CDC73	HP:0004398	Peptic ulcer
79577	CDC73	HP:0100027	Recurrent pancreatitis
79577	CDC73	HP:0011458	Abdominal symptom
79577	CDC73	HP:0000787	Nephrolithiasis
79577	CDC73	HP:0003109	Hyperphosphaturia
79577	CDC73	HP:0003165	Elevated circulating parathyroid hormone level
79577	CDC73	HP:0000843	Hyperparathyroidism
79577	CDC73	HP:0000939	Osteoporosis
79577	CDC73	HP:0000938	Osteopenia
79577	CDC73	HP:0000934	Chondrocalcinosis
79577	CDC73	HP:0040160	Generalized osteoporosis
79577	CDC73	HP:0012232	Shortened QT interval
79577	CDC73	HP:0000234	Abnormality of the head
79577	CDC73	HP:0002897	Parathyroid adenoma
79577	CDC73	HP:0002890	Thyroid carcinoma
79577	CDC73	HP:0012378	Fatigue
79577	CDC73	HP:0001609	Hoarse voice
79577	CDC73	HP:0001733	Pancreatitis
79577	CDC73	HP:0006735	Renal cortical adenoma
79577	CDC73	HP:0006725	Pancreatic adenocarcinoma
79577	CDC73	HP:0006780	Parathyroid carcinoma
79577	CDC73	HP:0006781	Hurthle cell thyroid adenoma
79577	CDC73	HP:0006766	Papillary renal cell carcinoma
79577	CDC73	HP:0001824	Weight loss
79581	SLC52A2	HP:0001171	Split hand
79581	SLC52A2	HP:0003700	Generalized amyotrophy
79581	SLC52A2	HP:0001290	Generalized hypotonia
79581	SLC52A2	HP:0001283	Bulbar palsy
79581	SLC52A2	HP:0001284	Areflexia
79581	SLC52A2	HP:0001252	Hypotonia
79581	SLC52A2	HP:0001251	Ataxia
79581	SLC52A2	HP:0003828	Variable expressivity
79581	SLC52A2	HP:0000007	Autosomal recessive inheritance
79581	SLC52A2	HP:0001308	Tongue fasciculations
79581	SLC52A2	HP:0002650	Scoliosis
79581	SLC52A2	HP:0002751	Kyphoscoliosis
79581	SLC52A2	HP:0002015	Dysphagia
79581	SLC52A2	HP:0002093	Respiratory insufficiency
79581	SLC52A2	HP:0010628	Facial palsy
79581	SLC52A2	HP:0003690	Limb muscle weakness
79581	SLC52A2	HP:0002375	Hypokinesia
79581	SLC52A2	HP:0003676	Progressive
79581	SLC52A2	HP:0007141	Sensorimotor neuropathy
79581	SLC52A2	HP:0002312	Clumsiness
79581	SLC52A2	HP:0006824	Cranial nerve paralysis
79581	SLC52A2	HP:0000639	Nystagmus
79581	SLC52A2	HP:0000648	Optic atrophy
79581	SLC52A2	HP:0001992	Organic aciduria
79581	SLC52A2	HP:0000718	Aggressive behavior
79581	SLC52A2	HP:0000407	Sensorineural hearing impairment
79581	SLC52A2	HP:0000467	Neck muscle weakness
79581	SLC52A2	HP:0000572	Visual loss
79583	TMEM231	HP:0001177	Preaxial hand polydactyly
79583	TMEM231	HP:0001162	Postaxial hand polydactyly
79583	TMEM231	HP:0001161	Hand polydactyly
79583	TMEM231	HP:0003774	Stage 5 chronic kidney disease
79583	TMEM231	HP:0010864	Intellectual disability, severe
79583	TMEM231	HP:0002419	Molar tooth sign on MRI
79583	TMEM231	HP:0001250	Seizure
79583	TMEM231	HP:0001252	Hypotonia
79583	TMEM231	HP:0001251	Ataxia
79583	TMEM231	HP:0001249	Intellectual disability
79583	TMEM231	HP:0001263	Global developmental delay
79583	TMEM231	HP:0001257	Spasticity
79583	TMEM231	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
79583	TMEM231	HP:0002540	Inability to walk
79583	TMEM231	HP:0002553	Highly arched eyebrow
79583	TMEM231	HP:0000083	Renal insufficiency
79583	TMEM231	HP:0000068	Urethral atresia
79583	TMEM231	HP:0000062	Ambiguous genitalia
79583	TMEM231	HP:0000073	Ureteral duplication
79583	TMEM231	HP:0012044	Seesaw nystagmus
79583	TMEM231	HP:0000037	Male pseudohermaphroditism
79583	TMEM231	HP:0000028	Cryptorchidism
79583	TMEM231	HP:0001344	Absent speech
79583	TMEM231	HP:0000007	Autosomal recessive inheritance
79583	TMEM231	HP:0000003	Multicystic kidney dysplasia
79583	TMEM231	HP:0001336	Myoclonus
79583	TMEM231	HP:0001305	Dandy-Walker malformation
79583	TMEM231	HP:0001320	Cerebellar vermis hypoplasia
79583	TMEM231	HP:0002650	Scoliosis
79583	TMEM231	HP:0002612	Congenital hepatic fibrosis
79583	TMEM231	HP:0000180	Lobulated tongue
79583	TMEM231	HP:0000193	Bifid uvula
79583	TMEM231	HP:0000164	Abnormality of the dentition
79583	TMEM231	HP:0000175	Cleft palate
79583	TMEM231	HP:0000113	Polycystic kidney dysplasia
79583	TMEM231	HP:0002789	Tachypnea
79583	TMEM231	HP:0000112	Nephropathy
79583	TMEM231	HP:0000107	Renal cyst
79583	TMEM231	HP:0004692	4-5 toe syndactyly
79583	TMEM231	HP:0011802	Hamartoma of tongue
79583	TMEM231	HP:0002085	Occipital encephalocele
79583	TMEM231	HP:0002084	Encephalocele
79583	TMEM231	HP:0002093	Respiratory insufficiency
79583	TMEM231	HP:0010442	Polydactyly
79583	TMEM231	HP:0010459	True hermaphroditism
79583	TMEM231	HP:0002104	Apnea
79583	TMEM231	HP:0011842	Abnormal skeletal morphology
79583	TMEM231	HP:0002269	Abnormality of neuronal migration
79583	TMEM231	HP:0003577	Congenital onset
79583	TMEM231	HP:0002251	Aganglionic megacolon
79583	TMEM231	HP:0010729	Cherry red spot of the macula
79583	TMEM231	HP:0010719	Abnormality of hair texture
79583	TMEM231	HP:0100732	Pancreatic fibrosis
79583	TMEM231	HP:0002323	Anencephaly
79583	TMEM231	HP:0006870	Lobar holoprosencephaly
79583	TMEM231	HP:0000639	Nystagmus
79583	TMEM231	HP:0000648	Optic atrophy
79583	TMEM231	HP:0000647	Sclerocornea
79583	TMEM231	HP:0000618	Blindness
79583	TMEM231	HP:0000612	Iris coloboma
79583	TMEM231	HP:0000657	Oculomotor apraxia
79583	TMEM231	HP:0030680	Abnormality of cardiovascular system morphology
79583	TMEM231	HP:0000767	Pectus excavatum
79583	TMEM231	HP:0000742	Self-mutilation
79583	TMEM231	HP:0000718	Aggressive behavior
79583	TMEM231	HP:0000729	Autistic behavior
79583	TMEM231	HP:0000708	Atypical behavior
79583	TMEM231	HP:0004422	Biparietal narrowing
79583	TMEM231	HP:0000879	Short sternum
79583	TMEM231	HP:0000864	Abnormality of the hypothalamus-pituitary axis
79583	TMEM231	HP:0010295	Aplasia/Hypoplasia of the tongue
79583	TMEM231	HP:0040079	Irregular dentition
79583	TMEM231	HP:0100259	Postaxial polydactyly
79583	TMEM231	HP:0008053	Aplasia/Hypoplasia of the iris
79583	TMEM231	HP:0000293	Full cheeks
79583	TMEM231	HP:0000276	Long face
79583	TMEM231	HP:0000238	Hydrocephalus
79583	TMEM231	HP:0000252	Microcephaly
79583	TMEM231	HP:0000221	Furrowed tongue
79583	TMEM231	HP:0001562	Oligohydramnios
79583	TMEM231	HP:0002942	Thoracic kyphosis
79583	TMEM231	HP:0006487	Bowing of the long bones
79583	TMEM231	HP:0001696	Situs inversus totalis
79583	TMEM231	HP:0000369	Low-set ears
79583	TMEM231	HP:0000368	Low-set, posteriorly rotated ears
79583	TMEM231	HP:0000340	Sloping forehead
79583	TMEM231	HP:0000347	Micrognathia
79583	TMEM231	HP:0000316	Hypertelorism
79583	TMEM231	HP:0001626	Abnormality of the cardiovascular system
79583	TMEM231	HP:0011168	Focal seizure with eyelid myoclonia
79583	TMEM231	HP:0012489	Suprasellar arachnoid cyst
79583	TMEM231	HP:0001737	Pancreatic cysts
79583	TMEM231	HP:0000486	Strabismus
79583	TMEM231	HP:0000482	Microcornea
79583	TMEM231	HP:0000488	Retinopathy
79583	TMEM231	HP:0000463	Anteverted nares
79583	TMEM231	HP:0000457	Depressed nasal ridge
79583	TMEM231	HP:0001746	Asplenia
79583	TMEM231	HP:0000414	Bulbous nose
79583	TMEM231	HP:0001747	Accessory spleen
79583	TMEM231	HP:0000426	Prominent nasal bridge
79583	TMEM231	HP:0006706	Cystic liver disease
79583	TMEM231	HP:0000518	Cataract
79583	TMEM231	HP:0000528	Anophthalmia
79583	TMEM231	HP:0001829	Foot polydactyly
79583	TMEM231	HP:0000508	Ptosis
79583	TMEM231	HP:0000505	Visual impairment
79583	TMEM231	HP:0001830	Postaxial foot polydactyly
79583	TMEM231	HP:0000577	Exotropia
79583	TMEM231	HP:0012547	Abnormal involuntary eye movements
79583	TMEM231	HP:0000556	Retinal dystrophy
79583	TMEM231	HP:0000568	Microphthalmia
79583	TMEM231	HP:0000567	Chorioretinal coloboma
79583	TMEM231	HP:0000532	Abnormal chorioretinal morphology
79583	TMEM231	HP:0001883	Talipes
79587	CARS2	HP:0010853	EEG with periodic lateralized epileptiform discharges
79587	CARS2	HP:0001272	Cerebellar atrophy
79587	CARS2	HP:0001268	Mental deterioration
79587	CARS2	HP:0001284	Areflexia
79587	CARS2	HP:0001252	Hypotonia
79587	CARS2	HP:0001249	Intellectual disability
79587	CARS2	HP:0001263	Global developmental delay
79587	CARS2	HP:0007351	Upper limb postural tremor
79587	CARS2	HP:0002506	Diffuse cerebral atrophy
79587	CARS2	HP:0002500	Abnormal cerebral white matter morphology
79587	CARS2	HP:0031165	Multifocal seizures
79587	CARS2	HP:0001332	Dystonia
79587	CARS2	HP:0033725	Thin corpus callosum
79587	CARS2	HP:0001344	Absent speech
79587	CARS2	HP:0000007	Autosomal recessive inheritance
79587	CARS2	HP:0001336	Myoclonus
79587	CARS2	HP:0001321	Cerebellar hypoplasia
79587	CARS2	HP:0001414	Microvesicular hepatic steatosis
79587	CARS2	HP:0002015	Dysphagia
79587	CARS2	HP:0002069	Bilateral tonic-clonic seizure
79587	CARS2	HP:0002079	Hypoplasia of the corpus callosum
79587	CARS2	HP:0002072	Chorea
79587	CARS2	HP:0002059	Cerebral atrophy
79587	CARS2	HP:0040288	Nasogastric tube feeding
79587	CARS2	HP:0002151	Increased serum lactate
79587	CARS2	HP:0002123	Generalized myoclonic seizure
79587	CARS2	HP:0002120	Cerebral cortical atrophy
79587	CARS2	HP:0002133	Status epilepticus
79587	CARS2	HP:0011924	Decreased activity of mitochondrial complex III
79587	CARS2	HP:0011923	Decreased activity of mitochondrial complex I
79587	CARS2	HP:0002179	Opisthotonus
79587	CARS2	HP:0003593	Infantile onset
79587	CARS2	HP:0002273	Tetraparesis
79587	CARS2	HP:0200134	Epileptic encephalopathy
79587	CARS2	HP:0002283	Global brain atrophy
79587	CARS2	HP:0008347	Decreased activity of mitochondrial complex IV
79587	CARS2	HP:0011968	Feeding difficulties
79587	CARS2	HP:0002376	Developmental regression
79587	CARS2	HP:0010841	Multifocal epileptiform discharges
79587	CARS2	HP:0003621	Juvenile onset
79587	CARS2	HP:0006829	Severe muscular hypotonia
79587	CARS2	HP:0001987	Hyperammonemia
79587	CARS2	HP:0004305	Involuntary movements
79587	CARS2	HP:0000729	Autistic behavior
79587	CARS2	HP:0003200	Ragged-red muscle fibers
79587	CARS2	HP:0100275	Diffuse cerebellar atrophy
79587	CARS2	HP:0000252	Microcephaly
79587	CARS2	HP:0025517	Hypoplastic hippocampus
79587	CARS2	HP:0001508	Failure to thrive
79587	CARS2	HP:0000365	Hearing impairment
79587	CARS2	HP:0001790	Nonimmune hydrops fetalis
79587	CARS2	HP:0005484	Secondary microcephaly
79587	CARS2	HP:0000529	Progressive visual loss
79587	CARS2	HP:0000505	Visual impairment
79587	CARS2	HP:0012531	Pain
79600	TCTN1	HP:0001177	Preaxial hand polydactyly
79600	TCTN1	HP:0001162	Postaxial hand polydactyly
79600	TCTN1	HP:0001161	Hand polydactyly
79600	TCTN1	HP:0002419	Molar tooth sign on MRI
79600	TCTN1	HP:0001288	Gait disturbance
79600	TCTN1	HP:0001250	Seizure
79600	TCTN1	HP:0001252	Hypotonia
79600	TCTN1	HP:0001251	Ataxia
79600	TCTN1	HP:0001249	Intellectual disability
79600	TCTN1	HP:0001263	Global developmental delay
79600	TCTN1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
79600	TCTN1	HP:0002553	Highly arched eyebrow
79600	TCTN1	HP:0000068	Urethral atresia
79600	TCTN1	HP:0000062	Ambiguous genitalia
79600	TCTN1	HP:0000073	Ureteral duplication
79600	TCTN1	HP:0000037	Male pseudohermaphroditism
79600	TCTN1	HP:0000028	Cryptorchidism
79600	TCTN1	HP:0008872	Feeding difficulties in infancy
79600	TCTN1	HP:0000007	Autosomal recessive inheritance
79600	TCTN1	HP:0000003	Multicystic kidney dysplasia
79600	TCTN1	HP:0001337	Tremor
79600	TCTN1	HP:0001305	Dandy-Walker malformation
79600	TCTN1	HP:0001302	Pachygyria
79600	TCTN1	HP:0001320	Cerebellar vermis hypoplasia
79600	TCTN1	HP:0002650	Scoliosis
79600	TCTN1	HP:0002612	Congenital hepatic fibrosis
79600	TCTN1	HP:0000175	Cleft palate
79600	TCTN1	HP:0002793	Abnormal pattern of respiration
79600	TCTN1	HP:0003312	Abnormal form of the vertebral bodies
79600	TCTN1	HP:0002084	Encephalocele
79600	TCTN1	HP:0010459	True hermaphroditism
79600	TCTN1	HP:0002126	Polymicrogyria
79600	TCTN1	HP:0002104	Apnea
79600	TCTN1	HP:0002269	Abnormality of neuronal migration
79600	TCTN1	HP:0002251	Aganglionic megacolon
79600	TCTN1	HP:0100732	Pancreatic fibrosis
79600	TCTN1	HP:0002323	Anencephaly
79600	TCTN1	HP:0006870	Lobar holoprosencephaly
79600	TCTN1	HP:0000639	Nystagmus
79600	TCTN1	HP:0000648	Optic atrophy
79600	TCTN1	HP:0000647	Sclerocornea
79600	TCTN1	HP:0000612	Iris coloboma
79600	TCTN1	HP:0000657	Oculomotor apraxia
79600	TCTN1	HP:0030680	Abnormality of cardiovascular system morphology
79600	TCTN1	HP:0004422	Biparietal narrowing
79600	TCTN1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
79600	TCTN1	HP:0010295	Aplasia/Hypoplasia of the tongue
79600	TCTN1	HP:0008053	Aplasia/Hypoplasia of the iris
79600	TCTN1	HP:0000293	Full cheeks
79600	TCTN1	HP:0000276	Long face
79600	TCTN1	HP:0000238	Hydrocephalus
79600	TCTN1	HP:0000252	Microcephaly
79600	TCTN1	HP:0000221	Furrowed tongue
79600	TCTN1	HP:0002876	Episodic tachypnea
79600	TCTN1	HP:0001562	Oligohydramnios
79600	TCTN1	HP:0000202	Orofacial cleft
79600	TCTN1	HP:0006487	Bowing of the long bones
79600	TCTN1	HP:0001696	Situs inversus totalis
79600	TCTN1	HP:0000369	Low-set ears
79600	TCTN1	HP:0000368	Low-set, posteriorly rotated ears
79600	TCTN1	HP:0000340	Sloping forehead
79600	TCTN1	HP:0000347	Micrognathia
79600	TCTN1	HP:0000316	Hypertelorism
79600	TCTN1	HP:0001737	Pancreatic cysts
79600	TCTN1	HP:0000486	Strabismus
79600	TCTN1	HP:0000482	Microcornea
79600	TCTN1	HP:0000463	Anteverted nares
79600	TCTN1	HP:0000457	Depressed nasal ridge
79600	TCTN1	HP:0001746	Asplenia
79600	TCTN1	HP:0001747	Accessory spleen
79600	TCTN1	HP:0000426	Prominent nasal bridge
79600	TCTN1	HP:0006706	Cystic liver disease
79600	TCTN1	HP:0000518	Cataract
79600	TCTN1	HP:0000528	Anophthalmia
79600	TCTN1	HP:0001829	Foot polydactyly
79600	TCTN1	HP:0000508	Ptosis
79600	TCTN1	HP:0001830	Postaxial foot polydactyly
79600	TCTN1	HP:0000568	Microphthalmia
79600	TCTN1	HP:0000532	Abnormal chorioretinal morphology
79600	TCTN1	HP:0001883	Talipes
79621	RNASEH2B	HP:0007256	Abnormal pyramidal sign
79621	RNASEH2B	HP:0002415	Leukodystrophy
79621	RNASEH2B	HP:0001298	Encephalopathy
79621	RNASEH2B	HP:0001276	Hypertonia
79621	RNASEH2B	HP:0100827	Lymphocytosis
79621	RNASEH2B	HP:0001250	Seizure
79621	RNASEH2B	HP:0001263	Global developmental delay
79621	RNASEH2B	HP:0001258	Spastic paraplegia
79621	RNASEH2B	HP:0001257	Spasticity
79621	RNASEH2B	HP:0002514	Cerebral calcification
79621	RNASEH2B	HP:0003828	Variable expressivity
79621	RNASEH2B	HP:0002510	Spastic tetraplegia
79621	RNASEH2B	HP:0001369	Arthritis
79621	RNASEH2B	HP:0000054	Micropenis
79621	RNASEH2B	HP:0001357	Plagiocephaly
79621	RNASEH2B	HP:0001332	Dystonia
79621	RNASEH2B	HP:0000007	Autosomal recessive inheritance
79621	RNASEH2B	HP:0001337	Tremor
79621	RNASEH2B	HP:0002650	Scoliosis
79621	RNASEH2B	HP:0008936	Axial hypotonia
79621	RNASEH2B	HP:0001433	Hepatosplenomegaly
79621	RNASEH2B	HP:0002079	Hypoplasia of the corpus callosum
79621	RNASEH2B	HP:0002071	Abnormality of extrapyramidal motor function
79621	RNASEH2B	HP:0002059	Cerebral atrophy
79621	RNASEH2B	HP:0100578	Lipoatrophy
79621	RNASEH2B	HP:0002139	Arrhinencephaly
79621	RNASEH2B	HP:0002119	Ventriculomegaly
79621	RNASEH2B	HP:0002135	Basal ganglia calcification
79621	RNASEH2B	HP:0002132	Porencephalic cyst
79621	RNASEH2B	HP:0002187	Intellectual disability, profound
79621	RNASEH2B	HP:0011834	Moyamoya phenomenon
79621	RNASEH2B	HP:0003552	Muscle stiffness
79621	RNASEH2B	HP:0009709	Increased CSF interferon alpha
79621	RNASEH2B	HP:0009710	Chilblains
79621	RNASEH2B	HP:0009704	Chronic CSF lymphocytosis
79621	RNASEH2B	HP:0004809	Neonatal alloimmune thrombocytopenia
79621	RNASEH2B	HP:0007076	Extrapyramidal muscular rigidity
79621	RNASEH2B	HP:0007052	Multifocal cerebral white matter abnormalities
79621	RNASEH2B	HP:0001063	Acrocyanosis
79621	RNASEH2B	HP:0002376	Developmental regression
79621	RNASEH2B	HP:0002371	Loss of speech
79621	RNASEH2B	HP:0002355	Difficulty walking
79621	RNASEH2B	HP:0002315	Headache
79621	RNASEH2B	HP:0002313	Spastic paraparesis
79621	RNASEH2B	HP:0100614	Myositis
79621	RNASEH2B	HP:0001087	Developmental glaucoma
79621	RNASEH2B	HP:0007108	Demyelinating peripheral neuropathy
79621	RNASEH2B	HP:0004963	Calcification of the aorta
79621	RNASEH2B	HP:0004942	Aortic aneurysm
79621	RNASEH2B	HP:0005550	Chronic lymphatic leukemia
79621	RNASEH2B	HP:0000639	Nystagmus
79621	RNASEH2B	HP:0001955	Unexplained fevers
79621	RNASEH2B	HP:0000625	Eyelid coloboma
79621	RNASEH2B	HP:0004322	Short stature
79621	RNASEH2B	HP:0004374	Hemiplegia/hemiparesis
79621	RNASEH2B	HP:0000737	Irritability
79621	RNASEH2B	HP:0000819	Diabetes mellitus
79621	RNASEH2B	HP:0000821	Hypothyroidism
79621	RNASEH2B	HP:0030880	Raynaud phenomenon
79621	RNASEH2B	HP:0000958	Dry skin
79621	RNASEH2B	HP:0000965	Cutis marmorata
79621	RNASEH2B	HP:0040140	Degeneration of the striatum
79621	RNASEH2B	HP:0002828	Multiple joint contractures
79621	RNASEH2B	HP:0000252	Microcephaly
79621	RNASEH2B	HP:0030038	Enchondroma
79621	RNASEH2B	HP:0006579	Prolonged neonatal jaundice
79621	RNASEH2B	HP:0001609	Hoarse voice
79621	RNASEH2B	HP:0002910	Elevated hepatic transaminase
79621	RNASEH2B	HP:0000369	Low-set ears
79621	RNASEH2B	HP:0002960	Autoimmunity
79621	RNASEH2B	HP:0001640	Cardiomegaly
79621	RNASEH2B	HP:0001639	Hypertrophic cardiomyopathy
79621	RNASEH2B	HP:0012490	Panniculitis
79621	RNASEH2B	HP:0000496	Abnormality of eye movement
79621	RNASEH2B	HP:0012444	Brain atrophy
79621	RNASEH2B	HP:0000444	Convex nasal ridge
79621	RNASEH2B	HP:0000508	Ptosis
79621	RNASEH2B	HP:0000501	Glaucoma
79621	RNASEH2B	HP:0030356	Increased circulating interferon-gamma concentration
79625	NDNF	HP:0001288	Gait disturbance
79625	NDNF	HP:0001250	Seizure
79625	NDNF	HP:0001252	Hypotonia
79625	NDNF	HP:0001251	Ataxia
79625	NDNF	HP:0001260	Dysarthria
79625	NDNF	HP:0008734	Decreased testicular size
79625	NDNF	HP:0008736	Hypoplasia of penis
79625	NDNF	HP:0008724	Hypoplasia of the ovary
79625	NDNF	HP:0000044	Hypogonadotropic hypogonadism
79625	NDNF	HP:0000054	Micropenis
79625	NDNF	HP:0000028	Cryptorchidism
79625	NDNF	HP:0001324	Muscle weakness
79625	NDNF	HP:0000008	Abnormal morphology of female internal genitalia
79625	NDNF	HP:0001335	Bimanual synkinesia
79625	NDNF	HP:0001337	Tremor
79625	NDNF	HP:0000006	Autosomal dominant inheritance
79625	NDNF	HP:0002652	Skeletal dysplasia
79625	NDNF	HP:0000175	Cleft palate
79625	NDNF	HP:0000144	Decreased fertility
79625	NDNF	HP:0002757	Recurrent fractures
79625	NDNF	HP:0000104	Renal agenesis
79625	NDNF	HP:0002750	Delayed skeletal maturation
79625	NDNF	HP:0010550	Paraplegia
79625	NDNF	HP:0008214	Decreased serum estradiol
79625	NDNF	HP:0009804	Tooth agenesis
79625	NDNF	HP:0100639	Erectile dysfunction
79625	NDNF	HP:0000639	Nystagmus
79625	NDNF	HP:0030680	Abnormality of cardiovascular system morphology
79625	NDNF	HP:0004349	Reduced bone mineral density
79625	NDNF	HP:0000771	Gynecomastia
79625	NDNF	HP:0000786	Primary amenorrhea
79625	NDNF	HP:0004409	Hyposmia
79625	NDNF	HP:0003187	Breast hypoplasia
79625	NDNF	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
79625	NDNF	HP:0000830	Anterior hypopituitarism
79625	NDNF	HP:0000823	Delayed puberty
79625	NDNF	HP:0040171	Decreased serum testosterone concentration
79625	NDNF	HP:0008064	Ichthyosis
79625	NDNF	HP:0030016	Dyspareunia
79625	NDNF	HP:0001513	Obesity
79625	NDNF	HP:0001608	Abnormality of the voice
79625	NDNF	HP:0000407	Sensorineural hearing impairment
79625	NDNF	HP:0000458	Anosmia
79625	NDNF	HP:0001763	Pes planus
79625	NDNF	HP:0001761	Pes cavus
79625	NDNF	HP:0000508	Ptosis
79625	NDNF	HP:0000505	Visual impairment
79625	NDNF	HP:0000551	Color vision defect
79628	SH3TC2	HP:0002460	Distal muscle weakness
79628	SH3TC2	HP:0007328	Impaired pain sensation
79628	SH3TC2	HP:0009916	Anisocoria
79628	SH3TC2	HP:0010871	Sensory ataxia
79628	SH3TC2	HP:0007209	Facial paralysis
79628	SH3TC2	HP:0002403	Positive Romberg sign
79628	SH3TC2	HP:0003701	Proximal muscle weakness
79628	SH3TC2	HP:0001291	Abnormal cranial nerve morphology
79628	SH3TC2	HP:0001272	Cerebellar atrophy
79628	SH3TC2	HP:0001270	Motor delay
79628	SH3TC2	HP:0001284	Areflexia
79628	SH3TC2	HP:0001260	Dysarthria
79628	SH3TC2	HP:0002540	Inability to walk
79628	SH3TC2	HP:0001385	Hip dysplasia
79628	SH3TC2	HP:0000007	Autosomal recessive inheritance
79628	SH3TC2	HP:0000006	Autosomal dominant inheritance
79628	SH3TC2	HP:0001308	Tongue fasciculations
79628	SH3TC2	HP:0002650	Scoliosis
79628	SH3TC2	HP:0012185	Constrictive median neuropathy
79628	SH3TC2	HP:0000183	Difficulty in tongue movements
79628	SH3TC2	HP:0002791	Hypoventilation
79628	SH3TC2	HP:0003326	Myalgia
79628	SH3TC2	HP:0002093	Respiratory insufficiency
79628	SH3TC2	HP:0002066	Gait ataxia
79628	SH3TC2	HP:0003394	Muscle spasm
79628	SH3TC2	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
79628	SH3TC2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
79628	SH3TC2	HP:0003477	Peripheral axonal neuropathy
79628	SH3TC2	HP:0003484	Upper limb muscle weakness
79628	SH3TC2	HP:0003431	Decreased motor nerve conduction velocity
79628	SH3TC2	HP:0003444	EMG: chronic denervation signs
79628	SH3TC2	HP:0003400	Basal lamina onion bulb formation
79628	SH3TC2	HP:0003593	Infantile onset
79628	SH3TC2	HP:0003581	Adult onset
79628	SH3TC2	HP:0010628	Facial palsy
79628	SH3TC2	HP:0003693	Distal amyotrophy
79628	SH3TC2	HP:0002359	Frequent falls
79628	SH3TC2	HP:0002355	Difficulty walking
79628	SH3TC2	HP:0002346	Head tremor
79628	SH3TC2	HP:0100661	Trigeminal neuralgia
79628	SH3TC2	HP:0009831	Mononeuropathy
79628	SH3TC2	HP:0007141	Sensorimotor neuropathy
79628	SH3TC2	HP:0008443	Neuropathic spinal arthropathy
79628	SH3TC2	HP:0007107	Segmental peripheral demyelination
79628	SH3TC2	HP:0007108	Demyelinating peripheral neuropathy
79628	SH3TC2	HP:0002307	Drooling
79628	SH3TC2	HP:0003621	Juvenile onset
79628	SH3TC2	HP:0006886	Impaired distal vibration sensation
79628	SH3TC2	HP:0000639	Nystagmus
79628	SH3TC2	HP:0000648	Optic atrophy
79628	SH3TC2	HP:0009027	Foot dorsiflexor weakness
79628	SH3TC2	HP:0004302	Functional motor deficit
79628	SH3TC2	HP:0000764	Peripheral axonal degeneration
79628	SH3TC2	HP:0011463	Childhood onset
79628	SH3TC2	HP:0004466	Prolonged brainstem auditory evoked potentials
79628	SH3TC2	HP:0040078	Axonal degeneration
79628	SH3TC2	HP:0034347	Greater auricular nerve thickening
79628	SH3TC2	HP:0008081	Pes valgus
79628	SH3TC2	HP:0007695	Abnormal pupillary light reflex
79628	SH3TC2	HP:0001508	Failure to thrive
79628	SH3TC2	HP:0002936	Distal sensory impairment
79628	SH3TC2	HP:0001604	Vocal cord paresis
79628	SH3TC2	HP:0000365	Hearing impairment
79628	SH3TC2	HP:0030319	Weakness of facial musculature
79628	SH3TC2	HP:0007994	Peripheral visual field loss
79628	SH3TC2	HP:0000407	Sensorineural hearing impairment
79628	SH3TC2	HP:0012473	Tongue atrophy
79628	SH3TC2	HP:0001763	Pes planus
79628	SH3TC2	HP:0001765	Hammertoe
79628	SH3TC2	HP:0001760	Abnormal foot morphology
79628	SH3TC2	HP:0001762	Talipes equinovarus
79628	SH3TC2	HP:0001761	Pes cavus
79628	SH3TC2	HP:0000587	Abnormal optic nerve morphology
79631	EFL1	HP:0001167	Abnormal finger morphology
79631	EFL1	HP:0410255	Transient neutropenia
79631	EFL1	HP:0410252	Chronic neutropenia
79631	EFL1	HP:0100806	Sepsis
79631	EFL1	HP:0001252	Hypotonia
79631	EFL1	HP:0001249	Intellectual disability
79631	EFL1	HP:0002594	Pancreatic hypoplasia
79631	EFL1	HP:0001263	Global developmental delay
79631	EFL1	HP:0002570	Steatorrhea
79631	EFL1	HP:0410289	Hypoamylasemia
79631	EFL1	HP:0003819	Death in childhood
79631	EFL1	HP:0001367	Abnormal joint morphology
79631	EFL1	HP:0000007	Autosomal recessive inheritance
79631	EFL1	HP:0002630	Fat malabsorption
79631	EFL1	HP:0000155	Oral ulcer
79631	EFL1	HP:0006276	Hyperechogenic pancreas
79631	EFL1	HP:0002754	Osteomyelitis
79631	EFL1	HP:0002750	Delayed skeletal maturation
79631	EFL1	HP:0002719	Recurrent infections
79631	EFL1	HP:0002718	Recurrent bacterial infections
79631	EFL1	HP:0002721	Immunodeficiency
79631	EFL1	HP:0002014	Diarrhea
79631	EFL1	HP:0002090	Pneumonia
79631	EFL1	HP:0100512	Low levels of vitamin D
79631	EFL1	HP:0100513	Low levels of vitamin E
79631	EFL1	HP:0008151	Prolonged prothrombin time
79631	EFL1	HP:0011892	Low levels of vitamin K
79631	EFL1	HP:0003593	Infantile onset
79631	EFL1	HP:0002240	Hepatomegaly
79631	EFL1	HP:0004808	Acute myeloid leukemia
79631	EFL1	HP:0003645	Prolonged partial thromboplastin time
79631	EFL1	HP:0004905	Low levels of vitamin A
79631	EFL1	HP:0005528	Bone marrow hypocellularity
79631	EFL1	HP:0005518	Increased mean corpuscular volume
79631	EFL1	HP:0001972	Macrocytic anemia
79631	EFL1	HP:0001909	Leukemia
79631	EFL1	HP:0001903	Anemia
79631	EFL1	HP:0001915	Aplastic anemia
79631	EFL1	HP:0000684	Delayed eruption of teeth
79631	EFL1	HP:0000670	Carious teeth
79631	EFL1	HP:0004322	Short stature
79631	EFL1	HP:0004395	Malnutrition
79631	EFL1	HP:0003016	Metaphyseal widening
79631	EFL1	HP:0003025	Metaphyseal irregularity
79631	EFL1	HP:0000736	Short attention span
79631	EFL1	HP:0000729	Autistic behavior
79631	EFL1	HP:0000708	Atypical behavior
79631	EFL1	HP:0011463	Childhood onset
79631	EFL1	HP:0004429	Recurrent viral infections
79631	EFL1	HP:0000924	Abnormality of the skeletal system
79631	EFL1	HP:0000907	Anterior rib cupping
79631	EFL1	HP:0000886	Deformed rib cage
79631	EFL1	HP:0000819	Diabetes mellitus
79631	EFL1	HP:0000824	Decreased response to growth hormone stimulation test
79631	EFL1	HP:0040075	Hypopituitarism
79631	EFL1	HP:0005871	Metaphyseal chondrodysplasia
79631	EFL1	HP:0040238	Impaired neutrophil chemotaxis
79631	EFL1	HP:0045027	Abnormality of the thoracic cavity
79631	EFL1	HP:0000988	Skin rash
79631	EFL1	HP:0000964	Eczema
79631	EFL1	HP:0000938	Osteopenia
79631	EFL1	HP:0008064	Ichthyosis
79631	EFL1	HP:0006461	Proximal femoral epiphysiolysis
79631	EFL1	HP:0000252	Microcephaly
79631	EFL1	HP:0000246	Sinusitis
79631	EFL1	HP:0012202	Increased serum bile acid concentration
79631	EFL1	HP:0000218	High palate
79631	EFL1	HP:0001522	Death in infancy
79631	EFL1	HP:0002863	Myelodysplasia
79631	EFL1	HP:0001508	Failure to thrive
79631	EFL1	HP:0001510	Growth delay
79631	EFL1	HP:0001607	Subglottic stenosis
79631	EFL1	HP:0001601	Laryngomalacia
79631	EFL1	HP:0002910	Elevated hepatic transaminase
79631	EFL1	HP:0000365	Hearing impairment
79631	EFL1	HP:0011024	Abnormality of the gastrointestinal tract
79631	EFL1	HP:0000356	Abnormality of the outer ear
79631	EFL1	HP:0011003	High myopia
79631	EFL1	HP:0000369	Low-set ears
79631	EFL1	HP:0001627	Abnormal heart morphology
79631	EFL1	HP:0002953	Vertebral compression fracture
79631	EFL1	HP:0002970	Genu varum
79631	EFL1	HP:0001738	Exocrine pancreatic insufficiency
79631	EFL1	HP:0001897	Normocytic anemia
79631	EFL1	HP:0001871	Abnormality of blood and blood-forming tissues
79631	EFL1	HP:0001882	Leukopenia
79631	EFL1	HP:0001873	Thrombocytopenia
79631	EFL1	HP:0001876	Pancytopenia
79631	EFL1	HP:0001875	Neutropenia
79633	FAT4	HP:0001159	Syndactyly
79633	FAT4	HP:0001195	Single umbilical artery
79633	FAT4	HP:0008572	External ear malformation
79633	FAT4	HP:0009890	High anterior hairline
79633	FAT4	HP:0010864	Intellectual disability, severe
79633	FAT4	HP:0008551	Microtia
79633	FAT4	HP:0001274	Agenesis of corpus callosum
79633	FAT4	HP:0100835	Benign neoplasm of the central nervous system
79633	FAT4	HP:0001256	Intellectual disability, mild
79633	FAT4	HP:0001250	Seizure
79633	FAT4	HP:0001252	Hypotonia
79633	FAT4	HP:0001251	Ataxia
79633	FAT4	HP:0001249	Intellectual disability
79633	FAT4	HP:0002593	Intestinal lymphangiectasia
79633	FAT4	HP:0001263	Global developmental delay
79633	FAT4	HP:0002557	Hypoplastic nipples
79633	FAT4	HP:0006101	Finger syndactyly
79633	FAT4	HP:0032388	Periventricular nodular heterotopia
79633	FAT4	HP:0000089	Renal hypoplasia
79633	FAT4	HP:0000086	Ectopic kidney
79633	FAT4	HP:0000085	Horseshoe kidney
79633	FAT4	HP:0000054	Micropenis
79633	FAT4	HP:0001388	Joint laxity
79633	FAT4	HP:0000048	Bifid scrotum
79633	FAT4	HP:0000047	Hypospadias
79633	FAT4	HP:0000023	Inguinal hernia
79633	FAT4	HP:0001363	Craniosynostosis
79633	FAT4	HP:0000028	Cryptorchidism
79633	FAT4	HP:0008872	Feeding difficulties in infancy
79633	FAT4	HP:0032409	Subcortical band heterotopia
79633	FAT4	HP:0000007	Autosomal recessive inheritance
79633	FAT4	HP:0001302	Pachygyria
79633	FAT4	HP:0002652	Skeletal dysplasia
79633	FAT4	HP:0001320	Cerebellar vermis hypoplasia
79633	FAT4	HP:0002650	Scoliosis
79633	FAT4	HP:0000160	Narrow mouth
79633	FAT4	HP:0008947	Infantile muscular hypotonia
79633	FAT4	HP:0002779	Tracheomalacia
79633	FAT4	HP:0002778	Abnormal tracheal morphology
79633	FAT4	HP:0002716	Lymphadenopathy
79633	FAT4	HP:0002714	Downturned corners of mouth
79633	FAT4	HP:0002025	Anal stenosis
79633	FAT4	HP:0002024	Malabsorption
79633	FAT4	HP:0002021	Pyloric stenosis
79633	FAT4	HP:0004689	Short fourth metatarsal
79633	FAT4	HP:0011800	Midface retrusion
79633	FAT4	HP:0002093	Respiratory insufficiency
79633	FAT4	HP:0002079	Hypoplasia of the corpus callosum
79633	FAT4	HP:0008197	Absence of pubertal development
79633	FAT4	HP:0009487	Ulnar deviation of the hand
79633	FAT4	HP:0002119	Ventriculomegaly
79633	FAT4	HP:0100490	Camptodactyly of finger
79633	FAT4	HP:0010554	Cutaneous finger syndactyly
79633	FAT4	HP:0010537	Wide cranial sutures
79633	FAT4	HP:0011830	Abnormal oral mucosa morphology
79633	FAT4	HP:0003577	Congenital onset
79633	FAT4	HP:0100716	Self-injurious behavior
79633	FAT4	HP:0002215	Sparse axillary hair
79633	FAT4	HP:0002205	Recurrent respiratory infections
79633	FAT4	HP:0200138	Bilateral choanal atresia/stenosis
79633	FAT4	HP:0100764	Lymphangioma
79633	FAT4	HP:0002282	Gray matter heterotopia
79633	FAT4	HP:0011968	Feeding difficulties
79633	FAT4	HP:0010621	Cutaneous syndactyly of toes
79633	FAT4	HP:0001055	Erysipelas
79633	FAT4	HP:0002342	Intellectual disability, moderate
79633	FAT4	HP:0001004	Lymphedema
79633	FAT4	HP:0010804	Tented upper lip vermilion
79633	FAT4	HP:0009804	Tooth agenesis
79633	FAT4	HP:0010044	Short 4th metacarpal
79633	FAT4	HP:0000684	Delayed eruption of teeth
79633	FAT4	HP:0000689	Dental malocclusion
79633	FAT4	HP:0001999	Abnormal facial shape
79633	FAT4	HP:0006989	Dysplastic corpus callosum
79633	FAT4	HP:0004322	Short stature
79633	FAT4	HP:0004313	Decreased circulating antibody level
79633	FAT4	HP:0012745	Short palpebral fissure
79633	FAT4	HP:0100026	Arteriovenous malformation
79633	FAT4	HP:0011471	Gastrostomy tube feeding in infancy
79633	FAT4	HP:0000774	Narrow chest
79633	FAT4	HP:0040079	Irregular dentition
79633	FAT4	HP:0000894	Short clavicles
79633	FAT4	HP:0010310	Chylothorax
79633	FAT4	HP:0000960	Sacral dimple
79633	FAT4	HP:0000939	Osteoporosis
79633	FAT4	HP:0000938	Osteopenia
79633	FAT4	HP:0045025	Narrow palpebral fissure
79633	FAT4	HP:0000286	Epicanthus
79633	FAT4	HP:0000278	Retrognathia
79633	FAT4	HP:0000293	Full cheeks
79633	FAT4	HP:0000260	Wide anterior fontanel
79633	FAT4	HP:0000272	Malar flattening
79633	FAT4	HP:0002825	Caudal appendage
79633	FAT4	HP:0030084	Clinodactyly
79633	FAT4	HP:0000239	Large fontanelles
79633	FAT4	HP:0000252	Microcephaly
79633	FAT4	HP:0000218	High palate
79633	FAT4	HP:0000212	Gingival overgrowth
79633	FAT4	HP:0001545	Anteriorly placed anus
79633	FAT4	HP:0001530	Mild postnatal growth retardation
79633	FAT4	HP:0001541	Ascites
79633	FAT4	HP:0030043	Hip subluxation
79633	FAT4	HP:0001510	Growth delay
79633	FAT4	HP:0011069	Supernumerary tooth
79633	FAT4	HP:0012385	Camptodactyly
79633	FAT4	HP:0012368	Flat face
79633	FAT4	HP:0006521	Pulmonary lymphangiectasia
79633	FAT4	HP:0005183	Pericardial lymphangiectasia
79633	FAT4	HP:0002901	Hypocalcemia
79633	FAT4	HP:0006482	Abnormality of dental morphology
79633	FAT4	HP:0000365	Hearing impairment
79633	FAT4	HP:0001698	Pericardial effusion
79633	FAT4	HP:0000369	Low-set ears
79633	FAT4	HP:0000341	Narrow forehead
79633	FAT4	HP:0000337	Broad forehead
79633	FAT4	HP:0000347	Micrognathia
79633	FAT4	HP:0000316	Hypertelorism
79633	FAT4	HP:0001642	Pulmonic stenosis
79633	FAT4	HP:0000327	Hypoplasia of the maxilla
79633	FAT4	HP:0000322	Short philtrum
79633	FAT4	HP:0001627	Abnormal heart morphology
79633	FAT4	HP:0000407	Sensorineural hearing impairment
79633	FAT4	HP:0000405	Conductive hearing impairment
79633	FAT4	HP:0000402	Stenosis of the external auditory canal
79633	FAT4	HP:0005280	Depressed nasal bridge
79633	FAT4	HP:0001789	Hydrops fetalis
79633	FAT4	HP:0000413	Atresia of the external auditory canal
79633	FAT4	HP:0001744	Splenomegaly
79633	FAT4	HP:0001760	Abnormal foot morphology
79633	FAT4	HP:0001762	Talipes equinovarus
79633	FAT4	HP:0000431	Wide nasal bridge
79633	FAT4	HP:0000508	Ptosis
79633	FAT4	HP:0000501	Glaucoma
79633	FAT4	HP:0000581	Blepharophimosis
79633	FAT4	HP:0011220	Prominent forehead
79633	FAT4	HP:0001888	Lymphopenia
79639	TMEM53	HP:0001138	Optic neuropathy
79639	TMEM53	HP:0001263	Global developmental delay
79639	TMEM53	HP:0100865	Broad ischia
79639	TMEM53	HP:0410280	Pediatric onset
79639	TMEM53	HP:0006097	3-4 finger syndactyly
79639	TMEM53	HP:0002684	Thickened calvaria
79639	TMEM53	HP:0002694	Sclerosis of skull base
79639	TMEM53	HP:0000007	Autosomal recessive inheritance
79639	TMEM53	HP:0000179	Thick lower lip vermilion
79639	TMEM53	HP:0002753	Thin bony cortex
79639	TMEM53	HP:0002057	Prominent glabella
79639	TMEM53	HP:0100704	Cerebral visual impairment
79639	TMEM53	HP:0003621	Juvenile onset
79639	TMEM53	HP:0004279	Short palm
79639	TMEM53	HP:0000648	Optic atrophy
79639	TMEM53	HP:0000667	Phthisis bulbi
79639	TMEM53	HP:0004322	Short stature
79639	TMEM53	HP:0000771	Gynecomastia
79639	TMEM53	HP:0011499	Mydriasis
79639	TMEM53	HP:0000926	Platyspondyly
79639	TMEM53	HP:0000885	Broad ribs
79639	TMEM53	HP:0100252	Diaphyseal dysplasia
79639	TMEM53	HP:0100255	Metaphyseal dysplasia
79639	TMEM53	HP:0000286	Epicanthus
79639	TMEM53	HP:0000280	Coarse facial features
79639	TMEM53	HP:0000256	Macrocephaly
79639	TMEM53	HP:0000268	Dolichocephaly
79639	TMEM53	HP:0006429	Broad femoral neck
79639	TMEM53	HP:0000215	Thick upper lip vermilion
79639	TMEM53	HP:0007807	Optic nerve compression
79639	TMEM53	HP:0000365	Hearing impairment
79639	TMEM53	HP:0000343	Long philtrum
79639	TMEM53	HP:0000316	Hypertelorism
79639	TMEM53	HP:0001629	Ventricular septal defect
79639	TMEM53	HP:0030320	Increased intervertebral space
79639	TMEM53	HP:0000486	Strabismus
79639	TMEM53	HP:0000463	Anteverted nares
79639	TMEM53	HP:0000431	Wide nasal bridge
79639	TMEM53	HP:0000520	Proptosis
79639	TMEM53	HP:0000505	Visual impairment
79639	TMEM53	HP:0011220	Prominent forehead
79641	ROGDI	HP:0010864	Intellectual disability, severe
79641	ROGDI	HP:0001268	Mental deterioration
79641	ROGDI	HP:0001250	Seizure
79641	ROGDI	HP:0001251	Ataxia
79641	ROGDI	HP:0001249	Intellectual disability
79641	ROGDI	HP:0001263	Global developmental delay
79641	ROGDI	HP:0001257	Spasticity
79641	ROGDI	HP:0007359	Focal-onset seizure
79641	ROGDI	HP:0002521	Hypsarrhythmia
79641	ROGDI	HP:0000007	Autosomal recessive inheritance
79641	ROGDI	HP:0001321	Cerebellar hypoplasia
79641	ROGDI	HP:0006297	Enamel hypoplasia
79641	ROGDI	HP:0006286	Yellow-brown discoloration of the teeth
79641	ROGDI	HP:0002069	Bilateral tonic-clonic seizure
79641	ROGDI	HP:0002059	Cerebral atrophy
79641	ROGDI	HP:0002119	Ventriculomegaly
79641	ROGDI	HP:0200134	Epileptic encephalopathy
79641	ROGDI	HP:0002376	Developmental regression
79641	ROGDI	HP:0002353	EEG abnormality
79641	ROGDI	HP:0000682	Abnormal dental enamel morphology
79641	ROGDI	HP:0004322	Short stature
79641	ROGDI	HP:0031936	Delayed ability to walk
79641	ROGDI	HP:0000750	Delayed speech and language development
79641	ROGDI	HP:0000726	Dementia
79641	ROGDI	HP:0000705	Amelogenesis imperfecta
79641	ROGDI	HP:0000966	Hypohidrosis
79641	ROGDI	HP:0000238	Hydrocephalus
79641	ROGDI	HP:0000252	Microcephaly
79641	ROGDI	HP:0011073	Abnormality of dental color
79641	ROGDI	HP:0032794	Myoclonic seizure
79644	SRD5A3	HP:0010864	Intellectual disability, severe
79644	SRD5A3	HP:0001272	Cerebellar atrophy
79644	SRD5A3	HP:0001270	Motor delay
79644	SRD5A3	HP:0001250	Seizure
79644	SRD5A3	HP:0001252	Hypotonia
79644	SRD5A3	HP:0001251	Ataxia
79644	SRD5A3	HP:0001249	Intellectual disability
79644	SRD5A3	HP:0001263	Global developmental delay
79644	SRD5A3	HP:0001257	Spasticity
79644	SRD5A3	HP:0000007	Autosomal recessive inheritance
79644	SRD5A3	HP:0001320	Cerebellar vermis hypoplasia
79644	SRD5A3	HP:0001317	Abnormal cerebellum morphology
79644	SRD5A3	HP:0008947	Infantile muscular hypotonia
79644	SRD5A3	HP:0002015	Dysphagia
79644	SRD5A3	HP:0002126	Polymicrogyria
79644	SRD5A3	HP:0003593	Infantile onset
79644	SRD5A3	HP:0003577	Congenital onset
79644	SRD5A3	HP:0002334	Abnormal cerebellar vermis morphology
79644	SRD5A3	HP:0001000	Abnormality of skin pigmentation
79644	SRD5A3	HP:0003642	Type I transferrin isoform profile
79644	SRD5A3	HP:0005585	Spotty hyperpigmentation
79644	SRD5A3	HP:0000639	Nystagmus
79644	SRD5A3	HP:0001976	Reduced antithrombin III activity
79644	SRD5A3	HP:0000648	Optic atrophy
79644	SRD5A3	HP:0000612	Iris coloboma
79644	SRD5A3	HP:0001928	Abnormality of coagulation
79644	SRD5A3	HP:0001935	Microcytic anemia
79644	SRD5A3	HP:0000677	Oligodontia
79644	SRD5A3	HP:0001999	Abnormal facial shape
79644	SRD5A3	HP:0004322	Short stature
79644	SRD5A3	HP:0030680	Abnormality of cardiovascular system morphology
79644	SRD5A3	HP:0003186	Inverted nipples
79644	SRD5A3	HP:0000821	Hypothyroidism
79644	SRD5A3	HP:0000824	Decreased response to growth hormone stimulation test
79644	SRD5A3	HP:0034391	Elbow contracture
79644	SRD5A3	HP:0000998	Hypertrichosis
79644	SRD5A3	HP:0000973	Cutis laxa
79644	SRD5A3	HP:0000982	Palmoplantar keratoderma
79644	SRD5A3	HP:0000958	Dry skin
79644	SRD5A3	HP:0000964	Eczema
79644	SRD5A3	HP:0000962	Hyperkeratosis
79644	SRD5A3	HP:0008064	Ichthyosis
79644	SRD5A3	HP:0001595	Abnormal hair morphology
79644	SRD5A3	HP:0005107	Abnormal sacrum morphology
79644	SRD5A3	HP:0007766	Optic disc hypoplasia
79644	SRD5A3	HP:0002808	Kyphosis
79644	SRD5A3	HP:0006380	Knee flexion contracture
79644	SRD5A3	HP:0000248	Brachycephaly
79644	SRD5A3	HP:0001508	Failure to thrive
79644	SRD5A3	HP:0002942	Thoracic kyphosis
79644	SRD5A3	HP:0002910	Elevated hepatic transaminase
79644	SRD5A3	HP:0000365	Hearing impairment
79644	SRD5A3	HP:0000369	Low-set ears
79644	SRD5A3	HP:0000316	Hypertelorism
79644	SRD5A3	HP:0000329	Facial hemangioma
79644	SRD5A3	HP:0005280	Depressed nasal bridge
79644	SRD5A3	HP:0012471	Thick vermilion border
79644	SRD5A3	HP:0012443	Abnormality of brain morphology
79644	SRD5A3	HP:0000414	Bulbous nose
79644	SRD5A3	HP:0000431	Wide nasal bridge
79644	SRD5A3	HP:0000518	Cataract
79644	SRD5A3	HP:0000510	Rod-cone dystrophy
79644	SRD5A3	HP:0000589	Coloboma
79644	SRD5A3	HP:0000572	Visual loss
79644	SRD5A3	HP:0000568	Microphthalmia
79648	MCPH1	HP:0002472	Small cerebral cortex
79648	MCPH1	HP:0010864	Intellectual disability, severe
79648	MCPH1	HP:0001274	Agenesis of corpus callosum
79648	MCPH1	HP:0001250	Seizure
79648	MCPH1	HP:0001249	Intellectual disability
79648	MCPH1	HP:0001263	Global developmental delay
79648	MCPH1	HP:0007333	Hypoplasia of the frontal lobes
79648	MCPH1	HP:0000076	Vesicoureteral reflux
79648	MCPH1	HP:0001347	Hyperreflexia
79648	MCPH1	HP:0000007	Autosomal recessive inheritance
79648	MCPH1	HP:0001302	Pachygyria
79648	MCPH1	HP:0000122	Unilateral renal agenesis
79648	MCPH1	HP:0003451	Increased rate of premature chromosome condensation
79648	MCPH1	HP:0002119	Ventriculomegaly
79648	MCPH1	HP:0003577	Congenital onset
79648	MCPH1	HP:0002282	Gray matter heterotopia
79648	MCPH1	HP:0004322	Short stature
79648	MCPH1	HP:0011451	Primary microcephaly
79648	MCPH1	HP:0003103	Abnormal cortical bone morphology
79648	MCPH1	HP:0000252	Microcephaly
79648	MCPH1	HP:0000219	Thin upper lip vermilion
79648	MCPH1	HP:0001510	Growth delay
79648	MCPH1	HP:0000340	Sloping forehead
79648	MCPH1	HP:0000582	Upslanted palpebral fissure
79650	USB1	HP:0010885	Avascular necrosis
79650	USB1	HP:0001263	Global developmental delay
79650	USB1	HP:0001231	Abnormal fingernail morphology
79650	USB1	HP:0002575	Tracheoesophageal fistula
79650	USB1	HP:0008661	Urethral stenosis
79650	USB1	HP:0002514	Cerebral calcification
79650	USB1	HP:0001399	Hepatic failure
79650	USB1	HP:0001394	Cirrhosis
79650	USB1	HP:0001388	Joint laxity
79650	USB1	HP:0001387	Joint stiffness
79650	USB1	HP:0000035	Abnormal testis morphology
79650	USB1	HP:0007556	Plantar hyperkeratosis
79650	USB1	HP:0002664	Neoplasm
79650	USB1	HP:0000008	Abnormal morphology of female internal genitalia
79650	USB1	HP:0000007	Autosomal recessive inheritance
79650	USB1	HP:0002665	Lymphoma
79650	USB1	HP:0002650	Scoliosis
79650	USB1	HP:0000164	Abnormality of the dentition
79650	USB1	HP:0025435	Increased circulating lactate dehydrogenase concentration
79650	USB1	HP:0007588	Reticular hyperpigmentation
79650	USB1	HP:0002757	Recurrent fractures
79650	USB1	HP:0002745	Oral leukoplakia
79650	USB1	HP:0002024	Malabsorption
79650	USB1	HP:0002007	Frontal bossing
79650	USB1	HP:0011800	Midface retrusion
79650	USB1	HP:0010450	Esophageal stenosis
79650	USB1	HP:0100585	Telangiectasia of the skin
79650	USB1	HP:0002162	Low posterior hairline
79650	USB1	HP:0003593	Infantile onset
79650	USB1	HP:0002240	Hepatomegaly
79650	USB1	HP:0002216	Premature graying of hair
79650	USB1	HP:0002205	Recurrent respiratory infections
79650	USB1	HP:0008404	Nail dystrophy
79650	USB1	HP:0010624	Aplastic/hypoplastic toenail
79650	USB1	HP:0001053	Hypopigmented skin patches
79650	USB1	HP:0001034	Hypermelanotic macule
79650	USB1	HP:0001029	Poikiloderma
79650	USB1	HP:0001009	Telangiectasia
79650	USB1	HP:0200037	Skin vesicle
79650	USB1	HP:0100670	Coarse metaphyseal trabecularization
79650	USB1	HP:0100627	Displacement of the urethral meatus
79650	USB1	HP:0200042	Skin ulcer
79650	USB1	HP:0005528	Bone marrow hypocellularity
79650	USB1	HP:0001928	Abnormality of coagulation
79650	USB1	HP:0000600	Abnormality of the pharynx
79650	USB1	HP:0001903	Anemia
79650	USB1	HP:0011364	White hair
79650	USB1	HP:0000679	Taurodontia
79650	USB1	HP:0000670	Carious teeth
79650	USB1	HP:0000668	Hypodontia
79650	USB1	HP:0004322	Short stature
79650	USB1	HP:0004334	Dermal atrophy
79650	USB1	HP:0012732	Anorectal anomaly
79650	USB1	HP:0012733	Macule
79650	USB1	HP:0000704	Periodontitis
79650	USB1	HP:0003196	Short nose
79650	USB1	HP:0000819	Diabetes mellitus
79650	USB1	HP:0003236	Elevated circulating creatine kinase concentration
79650	USB1	HP:0045075	Sparse eyebrow
79650	USB1	HP:0000975	Hyperhidrosis
79650	USB1	HP:0000988	Skin rash
79650	USB1	HP:0000982	Palmoplantar keratoderma
79650	USB1	HP:0000969	Edema
79650	USB1	HP:0000962	Hyperkeratosis
79650	USB1	HP:0000939	Osteoporosis
79650	USB1	HP:0008070	Sparse hair
79650	USB1	HP:0008065	Aplasia/Hypoplasia of the skin
79650	USB1	HP:0008066	Abnormal blistering of the skin
79650	USB1	HP:0000278	Retrognathia
79650	USB1	HP:0001596	Alopecia
79650	USB1	HP:0002894	Neoplasm of the pancreas
79650	USB1	HP:0001511	Intrauterine growth retardation
79650	USB1	HP:0001510	Growth delay
79650	USB1	HP:0006538	Recurrent bronchopulmonary infections
79650	USB1	HP:0006532	Recurrent pneumonia
79650	USB1	HP:0000365	Hearing impairment
79650	USB1	HP:0000343	Long philtrum
79650	USB1	HP:0000347	Micrognathia
79650	USB1	HP:0000316	Hypertelorism
79650	USB1	HP:0000327	Hypoplasia of the maxilla
79650	USB1	HP:0000499	Abnormal eyelash morphology
79650	USB1	HP:0000498	Blepharitis
79650	USB1	HP:0005374	Cellular immunodeficiency
79650	USB1	HP:0005338	Sparse lateral eyebrow
79650	USB1	HP:0000403	Recurrent otitis media
79650	USB1	HP:0005280	Depressed nasal bridge
79650	USB1	HP:0011108	Recurrent sinusitis
79650	USB1	HP:0001744	Splenomegaly
79650	USB1	HP:0000430	Underdeveloped nasal alae
79650	USB1	HP:0000518	Cataract
79650	USB1	HP:0000509	Conjunctivitis
79650	USB1	HP:0000579	Nasolacrimal duct obstruction
79650	USB1	HP:0000534	Abnormal eyebrow morphology
79650	USB1	HP:0001882	Leukopenia
79650	USB1	HP:0001874	Abnormality of neutrophils
79650	USB1	HP:0001873	Thrombocytopenia
79650	USB1	HP:0001875	Neutropenia
79651	RHBDF2	HP:0007447	Diffuse palmoplantar hyperkeratosis
79651	RHBDF2	HP:0025270	Abnormal esophagus physiology
79651	RHBDF2	HP:0007502	Follicular hyperkeratosis
79651	RHBDF2	HP:0000006	Autosomal dominant inheritance
79651	RHBDF2	HP:0002745	Oral leukoplakia
79651	RHBDF2	HP:0002020	Gastroesophageal reflux
79651	RHBDF2	HP:0002017	Nausea and vomiting
79651	RHBDF2	HP:0002033	Poor suck
79651	RHBDF2	HP:0002015	Dysphagia
79651	RHBDF2	HP:0002240	Hepatomegaly
79651	RHBDF2	HP:0002239	Gastrointestinal hemorrhage
79651	RHBDF2	HP:0002250	Abnormal large intestine morphology
79651	RHBDF2	HP:0100751	Esophageal neoplasm
79651	RHBDF2	HP:0100760	Clubbing of toes
79651	RHBDF2	HP:0001036	Parakeratosis
79651	RHBDF2	HP:0003621	Juvenile onset
79651	RHBDF2	HP:0004396	Poor appetite
79651	RHBDF2	HP:0011459	Esophageal carcinoma
79651	RHBDF2	HP:0045026	Abnormal mediastinum morphology
79651	RHBDF2	HP:0000982	Palmoplantar keratoderma
79651	RHBDF2	HP:0001541	Ascites
79651	RHBDF2	HP:0001824	Weight loss
79659	DYNC2H1	HP:0001177	Preaxial hand polydactyly
79659	DYNC2H1	HP:0001156	Brachydactyly
79659	DYNC2H1	HP:0001162	Postaxial hand polydactyly
79659	DYNC2H1	HP:0003762	Uterus didelphys
79659	DYNC2H1	HP:0001274	Agenesis of corpus callosum
79659	DYNC2H1	HP:0002566	Intestinal malrotation
79659	DYNC2H1	HP:0008736	Hypoplasia of penis
79659	DYNC2H1	HP:0008716	Urethrovaginal fistula
79659	DYNC2H1	HP:0010984	Digenic inheritance
79659	DYNC2H1	HP:0000089	Renal hypoplasia
79659	DYNC2H1	HP:0000083	Renal insufficiency
79659	DYNC2H1	HP:0000090	Nephronophthisis
79659	DYNC2H1	HP:0000062	Ambiguous genitalia
79659	DYNC2H1	HP:0001392	Abnormality of the liver
79659	DYNC2H1	HP:0000054	Micropenis
79659	DYNC2H1	HP:0000028	Cryptorchidism
79659	DYNC2H1	HP:0008873	Disproportionate short-limb short stature
79659	DYNC2H1	HP:0008872	Feeding difficulties in infancy
79659	DYNC2H1	HP:0000007	Autosomal recessive inheritance
79659	DYNC2H1	HP:0001305	Dandy-Walker malformation
79659	DYNC2H1	HP:0002652	Skeletal dysplasia
79659	DYNC2H1	HP:0002650	Scoliosis
79659	DYNC2H1	HP:0001321	Cerebellar hypoplasia
79659	DYNC2H1	HP:0002644	Abnormal pelvic girdle bone morphology
79659	DYNC2H1	HP:0002612	Congenital hepatic fibrosis
79659	DYNC2H1	HP:0000175	Cleft palate
79659	DYNC2H1	HP:0000113	Polycystic kidney dysplasia
79659	DYNC2H1	HP:0000126	Hydronephrosis
79659	DYNC2H1	HP:0000110	Renal dysplasia
79659	DYNC2H1	HP:0000112	Nephropathy
79659	DYNC2H1	HP:0000107	Renal cyst
79659	DYNC2H1	HP:0000105	Enlarged kidney
79659	DYNC2H1	HP:0002023	Anal atresia
79659	DYNC2H1	HP:0002032	Esophageal atresia
79659	DYNC2H1	HP:0002007	Frontal bossing
79659	DYNC2H1	HP:0002006	Facial cleft
79659	DYNC2H1	HP:0011802	Hamartoma of tongue
79659	DYNC2H1	HP:0002089	Pulmonary hypoplasia
79659	DYNC2H1	HP:0002093	Respiratory insufficiency
79659	DYNC2H1	HP:0010454	Acetabular spurs
79659	DYNC2H1	HP:0002119	Ventriculomegaly
79659	DYNC2H1	HP:0011927	Short digit
79659	DYNC2H1	HP:0010564	Bifid epiglottis
79659	DYNC2H1	HP:0009556	Absent tibia
79659	DYNC2H1	HP:0010579	Cone-shaped epiphysis
79659	DYNC2H1	HP:0002350	Cerebellar cyst
79659	DYNC2H1	HP:0004279	Short palm
79659	DYNC2H1	HP:0004322	Short stature
79659	DYNC2H1	HP:0030680	Abnormality of cardiovascular system morphology
79659	DYNC2H1	HP:0004397	Ectopic anus
79659	DYNC2H1	HP:0003038	Fibular hypoplasia
79659	DYNC2H1	HP:0003016	Metaphyseal widening
79659	DYNC2H1	HP:0003026	Short long bone
79659	DYNC2H1	HP:0003022	Hypoplasia of the ulna
79659	DYNC2H1	HP:0009106	Abnormal pelvis bone ossification
79659	DYNC2H1	HP:0000772	Abnormal rib morphology
79659	DYNC2H1	HP:0000766	Abnormal sternum morphology
79659	DYNC2H1	HP:0000774	Narrow chest
79659	DYNC2H1	HP:0000773	Short ribs
79659	DYNC2H1	HP:0005716	Lethal skeletal dysplasia
79659	DYNC2H1	HP:0000888	Horizontal ribs
79659	DYNC2H1	HP:0000889	Abnormal clavicle morphology
79659	DYNC2H1	HP:0010297	Bifid tongue
79659	DYNC2H1	HP:0000895	Lateral clavicle hook
79659	DYNC2H1	HP:0003270	Abdominal distention
79659	DYNC2H1	HP:0004599	Absent or minimally ossified vertebral bodies
79659	DYNC2H1	HP:0100259	Postaxial polydactyly
79659	DYNC2H1	HP:0100258	Preaxial polydactyly
79659	DYNC2H1	HP:0010306	Short thorax
79659	DYNC2H1	HP:0000944	Abnormal metaphysis morphology
79659	DYNC2H1	HP:0007703	Abnormality of retinal pigmentation
79659	DYNC2H1	HP:0000286	Epicanthus
79659	DYNC2H1	HP:0000256	Macrocephaly
79659	DYNC2H1	HP:0005054	Metaphyseal spurs
79659	DYNC2H1	HP:0001539	Omphalocele
79659	DYNC2H1	HP:0000204	Cleft upper lip
79659	DYNC2H1	HP:0005257	Thoracic hypoplasia
79659	DYNC2H1	HP:0000343	Long philtrum
79659	DYNC2H1	HP:0000347	Micrognathia
79659	DYNC2H1	HP:0002983	Micromelia
79659	DYNC2H1	HP:0002980	Femoral bowing
79659	DYNC2H1	HP:0005280	Depressed nasal bridge
79659	DYNC2H1	HP:0001789	Hydrops fetalis
79659	DYNC2H1	HP:0001770	Toe syndactyly
79659	DYNC2H1	HP:0001773	Short foot
79659	DYNC2H1	HP:0000445	Wide nose
79659	DYNC2H1	HP:0001762	Talipes equinovarus
79659	DYNC2H1	HP:0006703	Aplasia/Hypoplasia of the lungs
79659	DYNC2H1	HP:0000518	Cataract
79659	DYNC2H1	HP:0001830	Postaxial foot polydactyly
79669	C3orf52	HP:0000007	Autosomal recessive inheritance
79669	C3orf52	HP:0002209	Sparse scalp hair
79693	YRDC	HP:0001166	Arachnodactyly
79693	YRDC	HP:0003774	Stage 5 chronic kidney disease
79693	YRDC	HP:0009879	Simplified gyral pattern
79693	YRDC	HP:0001272	Cerebellar atrophy
79693	YRDC	HP:0001252	Hypotonia
79693	YRDC	HP:0000093	Proteinuria
79693	YRDC	HP:0000007	Autosomal recessive inheritance
79693	YRDC	HP:0001336	Myoclonus
79693	YRDC	HP:0031266	Podocyte foot process effacement
79693	YRDC	HP:0002059	Cerebral atrophy
79693	YRDC	HP:0002188	Delayed CNS myelination
79693	YRDC	HP:0003593	Infantile onset
79693	YRDC	HP:0003577	Congenital onset
79693	YRDC	HP:0001967	Diffuse mesangial sclerosis
79693	YRDC	HP:0011451	Primary microcephaly
79693	YRDC	HP:0000851	Congenital hypothyroidism
79693	YRDC	HP:0000252	Microcephaly
79693	YRDC	HP:0005484	Secondary microcephaly
79703	C11orf80	HP:0000007	Autosomal recessive inheritance
79703	C11orf80	HP:0008222	Female infertility
79703	C11orf80	HP:0200067	Recurrent spontaneous abortion
79703	C11orf80	HP:0032192	Hydatidiform mole
79705	LRRK1	HP:0100923	Clavicular sclerosis
79705	LRRK1	HP:0100959	Dense metaphyseal bands
79705	LRRK1	HP:0001250	Seizure
79705	LRRK1	HP:0001252	Hypotonia
79705	LRRK1	HP:0001249	Intellectual disability
79705	LRRK1	HP:0001265	Hyporeflexia
79705	LRRK1	HP:0001263	Global developmental delay
79705	LRRK1	HP:0000007	Autosomal recessive inheritance
79705	LRRK1	HP:0003593	Infantile onset
79705	LRRK1	HP:0003155	Elevated circulating alkaline phosphatase concentration
79705	LRRK1	HP:0004576	Sclerotic vertebral endplates
79705	LRRK1	HP:0100255	Metaphyseal dysplasia
79705	LRRK1	HP:0001508	Failure to thrive
79705	LRRK1	HP:0011001	Increased bone mineral density
79709	COLGALT1	HP:0010864	Intellectual disability, severe
79709	COLGALT1	HP:0001250	Seizure
79709	COLGALT1	HP:0001252	Hypotonia
79709	COLGALT1	HP:0001263	Global developmental delay
79709	COLGALT1	HP:0002514	Cerebral calcification
79709	COLGALT1	HP:0002510	Spastic tetraplegia
79709	COLGALT1	HP:0032325	Lacunar stroke
79709	COLGALT1	HP:0000007	Autosomal recessive inheritance
79709	COLGALT1	HP:0002059	Cerebral atrophy
79709	COLGALT1	HP:0002132	Porencephalic cyst
79709	COLGALT1	HP:0003593	Infantile onset
79709	COLGALT1	HP:0002352	Leukoencephalopathy
79717	PPCS	HP:0001252	Hypotonia
79717	PPCS	HP:0003819	Death in childhood
79717	PPCS	HP:0000007	Autosomal recessive inheritance
79717	PPCS	HP:0002092	Pulmonary arterial hypertension
79717	PPCS	HP:0100578	Lipoatrophy
79717	PPCS	HP:0002151	Increased serum lactate
79717	PPCS	HP:0003457	EMG abnormality
79717	PPCS	HP:0003593	Infantile onset
79717	PPCS	HP:0003623	Neonatal onset
79717	PPCS	HP:0012664	Reduced left ventricular ejection fraction
79717	PPCS	HP:0011463	Childhood onset
79717	PPCS	HP:0003198	Myopathy
79717	PPCS	HP:0003236	Elevated circulating creatine kinase concentration
79717	PPCS	HP:0000982	Palmoplantar keratoderma
79717	PPCS	HP:0001522	Death in infancy
79717	PPCS	HP:0001644	Dilated cardiomyopathy
79717	PPCS	HP:0000407	Sensorineural hearing impairment
79717	PPCS	HP:0001874	Abnormality of neutrophils
79718	TBL1XR1	HP:0001169	Broad palm
79718	TBL1XR1	HP:0009909	Uplifted earlobe
79718	TBL1XR1	HP:0032276	Prominent subcalcaneal fat pad
79718	TBL1XR1	HP:0009890	High anterior hairline
79718	TBL1XR1	HP:0001276	Hypertonia
79718	TBL1XR1	HP:0001250	Seizure
79718	TBL1XR1	HP:0001252	Hypotonia
79718	TBL1XR1	HP:0001249	Intellectual disability
79718	TBL1XR1	HP:0001263	Global developmental delay
79718	TBL1XR1	HP:0410263	Brain imaging abnormality
79718	TBL1XR1	HP:0100853	Hypoplastic areola
79718	TBL1XR1	HP:0100872	Abnormality of the plantar skin of foot
79718	TBL1XR1	HP:0031035	Chronic infection
79718	TBL1XR1	HP:0007367	Atrophy/Degeneration affecting the central nervous system
79718	TBL1XR1	HP:0001212	Prominent fingertip pads
79718	TBL1XR1	HP:0002536	Abnormal cortical gyration
79718	TBL1XR1	HP:0002521	Hypsarrhythmia
79718	TBL1XR1	HP:0031020	Bone marrow hypercellularity
79718	TBL1XR1	HP:0012043	Pendular nystagmus
79718	TBL1XR1	HP:0000054	Micropenis
79718	TBL1XR1	HP:0001388	Joint laxity
79718	TBL1XR1	HP:0000028	Cryptorchidism
79718	TBL1XR1	HP:0007552	Abnormal subcutaneous fat tissue distribution
79718	TBL1XR1	HP:0006191	Deep palmar crease
79718	TBL1XR1	HP:0001324	Muscle weakness
79718	TBL1XR1	HP:0001344	Absent speech
79718	TBL1XR1	HP:0000006	Autosomal dominant inheritance
79718	TBL1XR1	HP:0002653	Bone pain
79718	TBL1XR1	HP:0002650	Scoliosis
79718	TBL1XR1	HP:0007605	Excessive wrinkling of palmar skin
79718	TBL1XR1	HP:0002708	Prominent median palatal raphe
79718	TBL1XR1	HP:0025420	Diffuse alveolar hemorrhage
79718	TBL1XR1	HP:0031245	Productive cough
79718	TBL1XR1	HP:0002716	Lymphadenopathy
79718	TBL1XR1	HP:0002714	Downturned corners of mouth
79718	TBL1XR1	HP:0002027	Abdominal pain
79718	TBL1XR1	HP:0011800	Midface retrusion
79718	TBL1XR1	HP:0030955	Alcoholism
79718	TBL1XR1	HP:0002039	Anorexia
79718	TBL1XR1	HP:0002119	Ventriculomegaly
79718	TBL1XR1	HP:0011900	Hypofibrinogenemia
79718	TBL1XR1	HP:0002265	Large fleshy ears
79718	TBL1XR1	HP:0003593	Infantile onset
79718	TBL1XR1	HP:0100758	Gangrene
79718	TBL1XR1	HP:0011968	Feeding difficulties
79718	TBL1XR1	HP:0002321	Vertigo
79718	TBL1XR1	HP:0100608	Metrorrhagia
79718	TBL1XR1	HP:0002308	Chiari malformation
79718	TBL1XR1	HP:0005521	Disseminated intravascular coagulation
79718	TBL1XR1	HP:0004279	Short palm
79718	TBL1XR1	HP:0000637	Long palpebral fissure
79718	TBL1XR1	HP:0001974	Leukocytosis
79718	TBL1XR1	HP:0001945	Fever
79718	TBL1XR1	HP:0001903	Anemia
79718	TBL1XR1	HP:0011344	Severe global developmental delay
79718	TBL1XR1	HP:0011341	Long upper lip
79718	TBL1XR1	HP:0000687	Widely spaced teeth
79718	TBL1XR1	HP:0004325	Decreased body weight
79718	TBL1XR1	HP:0004322	Short stature
79718	TBL1XR1	HP:0000759	Abnormal peripheral nervous system morphology
79718	TBL1XR1	HP:0000750	Delayed speech and language development
79718	TBL1XR1	HP:0000729	Autistic behavior
79718	TBL1XR1	HP:0011451	Primary microcephaly
79718	TBL1XR1	HP:0000790	Hematuria
79718	TBL1XR1	HP:0003196	Short nose
79718	TBL1XR1	HP:0012811	Wide nasal ridge
79718	TBL1XR1	HP:0010280	Stomatitis
79718	TBL1XR1	HP:0000979	Purpura
79718	TBL1XR1	HP:0000978	Bruising susceptibility
79718	TBL1XR1	HP:0000967	Petechiae
79718	TBL1XR1	HP:0045025	Narrow palpebral fissure
79718	TBL1XR1	HP:0009381	Short finger
79718	TBL1XR1	HP:0000283	Broad face
79718	TBL1XR1	HP:0000293	Full cheeks
79718	TBL1XR1	HP:0000289	Broad philtrum
79718	TBL1XR1	HP:0000272	Malar flattening
79718	TBL1XR1	HP:0000252	Microcephaly
79718	TBL1XR1	HP:0000248	Brachycephaly
79718	TBL1XR1	HP:0000219	Thin upper lip vermilion
79718	TBL1XR1	HP:0000212	Gingival overgrowth
79718	TBL1XR1	HP:0002875	Exertional dyspnea
79718	TBL1XR1	HP:0000233	Thin vermilion border
79718	TBL1XR1	HP:0000232	Everted lower lip vermilion
79718	TBL1XR1	HP:0000225	Gingival bleeding
79718	TBL1XR1	HP:0031364	Ecchymosis
79718	TBL1XR1	HP:0001508	Failure to thrive
79718	TBL1XR1	HP:0001518	Small for gestational age
79718	TBL1XR1	HP:0011097	Epileptic spasm
79718	TBL1XR1	HP:0012378	Fatigue
79718	TBL1XR1	HP:0000365	Hearing impairment
79718	TBL1XR1	HP:0000358	Posteriorly rotated ears
79718	TBL1XR1	HP:0032792	Tonic seizure
79718	TBL1XR1	HP:0000348	High forehead
79718	TBL1XR1	HP:0000319	Smooth philtrum
79718	TBL1XR1	HP:0000316	Hypertelorism
79718	TBL1XR1	HP:0030140	Oral cavity bleeding
79718	TBL1XR1	HP:0007946	Unilateral narrow palpebral fissure
79718	TBL1XR1	HP:0006610	Wide intermamillary distance
79718	TBL1XR1	HP:0000400	Macrotia
79718	TBL1XR1	HP:0000486	Strabismus
79718	TBL1XR1	HP:0000482	Microcornea
79718	TBL1XR1	HP:0000490	Deeply set eye
79718	TBL1XR1	HP:0000455	Broad nasal tip
79718	TBL1XR1	HP:0000470	Short neck
79718	TBL1XR1	HP:0001773	Short foot
79718	TBL1XR1	HP:0001769	Broad foot
79718	TBL1XR1	HP:0001763	Pes planus
79718	TBL1XR1	HP:0000445	Wide nose
79718	TBL1XR1	HP:0000421	Epistaxis
79718	TBL1XR1	HP:0001824	Weight loss
79718	TBL1XR1	HP:0000506	Telecanthus
79718	TBL1XR1	HP:0001831	Short toe
79718	TBL1XR1	HP:0000581	Blepharophimosis
79718	TBL1XR1	HP:0001892	Abnormal bleeding
79718	TBL1XR1	HP:0000574	Thick eyebrow
79718	TBL1XR1	HP:0000568	Microphthalmia
79718	TBL1XR1	HP:0001869	Deep plantar creases
79718	TBL1XR1	HP:0001882	Leukopenia
79718	TBL1XR1	HP:0001873	Thrombocytopenia
79718	TBL1XR1	HP:0001876	Pancytopenia
79718	TBL1XR1	HP:0001875	Neutropenia
79719	AAGAB	HP:0025114	Hypergranulosis
79719	AAGAB	HP:0007530	Punctate palmoplantar hyperkeratosis
79719	AAGAB	HP:0002671	Basal cell carcinoma
79719	AAGAB	HP:0000006	Autosomal dominant inheritance
79719	AAGAB	HP:0012189	Hodgkin lymphoma
79719	AAGAB	HP:0012125	Prostate cancer
79719	AAGAB	HP:0012126	Stomach cancer
79719	AAGAB	HP:0100526	Neoplasm of the lung
79719	AAGAB	HP:0040274	Adenocarcinoma of the small intestine
79719	AAGAB	HP:0040276	Adenocarcinoma of the colon
79719	AAGAB	HP:0003584	Late onset
79719	AAGAB	HP:0008404	Nail dystrophy
79719	AAGAB	HP:0100751	Esophageal neoplasm
79719	AAGAB	HP:0010622	Neoplasm of the skeletal system
79719	AAGAB	HP:0025092	Epidermal acanthosis
79719	AAGAB	HP:0005584	Renal cell carcinoma
79719	AAGAB	HP:0003002	Breast carcinoma
79719	AAGAB	HP:0030692	Brain neoplasm
79719	AAGAB	HP:0045059	Hyperkeratotic papule
79719	AAGAB	HP:0000972	Palmoplantar hyperkeratosis
79719	AAGAB	HP:0000982	Palmoplantar keratoderma
79719	AAGAB	HP:0040162	Orthokeratosis
79719	AAGAB	HP:0001597	Abnormality of the nail
79719	AAGAB	HP:0002861	Melanoma
79719	AAGAB	HP:0002860	Squamous cell carcinoma
79719	AAGAB	HP:0011124	Abnormal epidermal morphology
79719	AAGAB	HP:0006725	Pancreatic adenocarcinoma
79719	AAGAB	HP:0012500	Verrucous papule
79719	AAGAB	HP:0012531	Pain
79722	ANKRD55	HP:0001155	Abnormality of the hand
79722	ANKRD55	HP:0001371	Flexion contracture
79722	ANKRD55	HP:0001370	Rheumatoid arthritis
79722	ANKRD55	HP:0001369	Arthritis
79722	ANKRD55	HP:0001386	Joint swelling
79722	ANKRD55	HP:0001387	Joint stiffness
79722	ANKRD55	HP:0001382	Joint hypermobility
79722	ANKRD55	HP:0001384	Abnormal hip joint morphology
79722	ANKRD55	HP:0008850	Severe postnatal growth retardation
79722	ANKRD55	HP:0008843	Hip osteoarthritis
79722	ANKRD55	HP:0007663	Reduced visual acuity
79722	ANKRD55	HP:0001433	Hepatosplenomegaly
79722	ANKRD55	HP:0002716	Lymphadenopathy
79722	ANKRD55	HP:0040313	Oligoarthritis
79722	ANKRD55	HP:0003326	Myalgia
79722	ANKRD55	HP:0003319	Abnormality of the cervical spine
79722	ANKRD55	HP:0011911	Abnormal metacarpophalangeal joint morphology
79722	ANKRD55	HP:0003493	Antinuclear antibody positivity
79722	ANKRD55	HP:0003565	Elevated erythrocyte sedimentation rate
79722	ANKRD55	HP:0100769	Synovitis
79722	ANKRD55	HP:0001094	Iridocyclitis
79722	ANKRD55	HP:0100686	Enthesitis
79722	ANKRD55	HP:0010754	Abnormality of the temporomandibular joint
79722	ANKRD55	HP:0001903	Anemia
79722	ANKRD55	HP:0003028	Abnormality of the ankle
79722	ANKRD55	HP:0003043	Abnormal shoulder morphology
79722	ANKRD55	HP:0003019	Abnormality of the wrist
79722	ANKRD55	HP:0030782	Abnormal circulating interleukin concentration
79722	ANKRD55	HP:0002829	Arthralgia
79722	ANKRD55	HP:0005086	Knee osteoarthritis
79722	ANKRD55	HP:0001530	Mild postnatal growth retardation
79722	ANKRD55	HP:0001508	Failure to thrive
79722	ANKRD55	HP:0007833	Anterior chamber synechiae
79722	ANKRD55	HP:0005186	Synovial hypertrophy
79722	ANKRD55	HP:0002960	Autoimmunity
79722	ANKRD55	HP:0011134	Low-grade fever
79722	ANKRD55	HP:0001785	Ankle swelling
79722	ANKRD55	HP:0000518	Cataract
79722	ANKRD55	HP:0001824	Weight loss
79722	ANKRD55	HP:0001832	Abnormal metatarsal morphology
79722	ANKRD55	HP:0000501	Glaucoma
79722	ANKRD55	HP:0000585	Band keratopathy
79722	ANKRD55	HP:0030356	Increased circulating interferon-gamma concentration
79722	ANKRD55	HP:0000554	Uveitis
79722	ANKRD55	HP:0000572	Visual loss
79728	PALB2	HP:0001172	Abnormal thumb morphology
79728	PALB2	HP:0001199	Triphalangeal thumb
79728	PALB2	HP:0008572	External ear malformation
79728	PALB2	HP:0002414	Spina bifida
79728	PALB2	HP:0001249	Intellectual disability
79728	PALB2	HP:0001263	Global developmental delay
79728	PALB2	HP:0002575	Tracheoesophageal fistula
79728	PALB2	HP:0006101	Finger syndactyly
79728	PALB2	HP:0007400	Irregular hyperpigmentation
79728	PALB2	HP:0100867	Duodenal stenosis
79728	PALB2	HP:0008678	Renal hypoplasia/aplasia
79728	PALB2	HP:0000083	Renal insufficiency
79728	PALB2	HP:0001392	Abnormality of the liver
79728	PALB2	HP:0000079	Abnormality of the urinary system
79728	PALB2	HP:0000072	Hydroureter
79728	PALB2	HP:0012041	Decreased fertility in males
79728	PALB2	HP:0000047	Hypospadias
79728	PALB2	HP:0025318	Ovarian carcinoma
79728	PALB2	HP:0001347	Hyperreflexia
79728	PALB2	HP:0000035	Abnormal testis morphology
79728	PALB2	HP:0000028	Cryptorchidism
79728	PALB2	HP:0000027	Azoospermia
79728	PALB2	HP:0007565	Multiple cafe-au-lait spots
79728	PALB2	HP:0008897	Postnatal growth retardation
79728	PALB2	HP:0002664	Neoplasm
79728	PALB2	HP:0000010	Recurrent urinary tract infections
79728	PALB2	HP:0000007	Autosomal recessive inheritance
79728	PALB2	HP:0002667	Nephroblastoma
79728	PALB2	HP:0000006	Autosomal dominant inheritance
79728	PALB2	HP:0002650	Scoliosis
79728	PALB2	HP:0000175	Cleft palate
79728	PALB2	HP:0012125	Prostate cancer
79728	PALB2	HP:0000135	Hypogonadism
79728	PALB2	HP:0006265	Aplasia/Hypoplasia of fingers
79728	PALB2	HP:0000130	Abnormality of the uterus
79728	PALB2	HP:0001428	Somatic mutation
79728	PALB2	HP:0001433	Hepatosplenomegaly
79728	PALB2	HP:0002716	Lymphadenopathy
79728	PALB2	HP:0002023	Anal atresia
79728	PALB2	HP:0002017	Nausea and vomiting
79728	PALB2	HP:0002027	Abdominal pain
79728	PALB2	HP:0002007	Frontal bossing
79728	PALB2	HP:0100542	Abnormal localization of kidney
79728	PALB2	HP:0002039	Anorexia
79728	PALB2	HP:0100592	Peritoneal abscess
79728	PALB2	HP:0100587	Abnormal preputium morphology
79728	PALB2	HP:0010469	Absent testis
79728	PALB2	HP:0002119	Ventriculomegaly
79728	PALB2	HP:0003418	Back pain
79728	PALB2	HP:0002245	Meckel diverticulum
79728	PALB2	HP:0002254	Intermittent diarrhea
79728	PALB2	HP:0002251	Aganglionic megacolon
79728	PALB2	HP:0100760	Clubbing of toes
79728	PALB2	HP:0001053	Hypopigmented skin patches
79728	PALB2	HP:0001000	Abnormality of skin pigmentation
79728	PALB2	HP:0100615	Ovarian neoplasm
79728	PALB2	HP:0009778	Short thumb
79728	PALB2	HP:0004209	Clinodactyly of the 5th finger
79728	PALB2	HP:0005522	Pyridoxine-responsive sideroblastic anemia
79728	PALB2	HP:0006824	Cranial nerve paralysis
79728	PALB2	HP:0000639	Nystagmus
79728	PALB2	HP:0001903	Anemia
79728	PALB2	HP:0001915	Aplastic anemia
79728	PALB2	HP:0012639	Abnormal nervous system morphology
79728	PALB2	HP:0004322	Short stature
79728	PALB2	HP:0003002	Breast carcinoma
79728	PALB2	HP:0003003	Colon cancer
79728	PALB2	HP:0004389	Intestinal pseudo-obstruction
79728	PALB2	HP:0004396	Poor appetite
79728	PALB2	HP:0003006	Neuroblastoma
79728	PALB2	HP:0003022	Hypoplasia of the ulna
79728	PALB2	HP:0004349	Reduced bone mineral density
79728	PALB2	HP:0012745	Short palpebral fissure
79728	PALB2	HP:0100026	Arteriovenous malformation
79728	PALB2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
79728	PALB2	HP:0000819	Diabetes mellitus
79728	PALB2	HP:0000813	Bicornuate uterus
79728	PALB2	HP:0010293	Aplasia/Hypoplasia of the uvula
79728	PALB2	HP:0040071	Abnormal morphology of ulna
79728	PALB2	HP:0003220	Abnormality of chromosome stability
79728	PALB2	HP:0003221	Chromosomal breakage induced by crosslinking agents
79728	PALB2	HP:0000957	Cafe-au-lait spot
79728	PALB2	HP:0000952	Jaundice
79728	PALB2	HP:0008053	Aplasia/Hypoplasia of the iris
79728	PALB2	HP:0000286	Epicanthus
79728	PALB2	HP:0000268	Dolichocephaly
79728	PALB2	HP:0002817	Abnormality of the upper limb
79728	PALB2	HP:0002827	Hip dislocation
79728	PALB2	HP:0002823	Abnormality of femur morphology
79728	PALB2	HP:0000238	Hydrocephalus
79728	PALB2	HP:0002896	Neoplasm of the liver
79728	PALB2	HP:0000252	Microcephaly
79728	PALB2	HP:0012210	Abnormal renal morphology
79728	PALB2	HP:0000218	High palate
79728	PALB2	HP:0002894	Neoplasm of the pancreas
79728	PALB2	HP:0001562	Oligohydramnios
79728	PALB2	HP:0002885	Medulloblastoma
79728	PALB2	HP:0002861	Melanoma
79728	PALB2	HP:0001537	Umbilical hernia
79728	PALB2	HP:0002863	Myelodysplasia
79728	PALB2	HP:0001511	Intrauterine growth retardation
79728	PALB2	HP:0001510	Growth delay
79728	PALB2	HP:0006501	Aplasia/Hypoplasia of the radius
79728	PALB2	HP:0011027	Abnormal fallopian tube morphology
79728	PALB2	HP:0005249	Functional intestinal obstruction
79728	PALB2	HP:0007874	Almond-shaped palpebral fissure
79728	PALB2	HP:0002910	Elevated hepatic transaminase
79728	PALB2	HP:0000365	Hearing impairment
79728	PALB2	HP:0000364	Hearing abnormality
79728	PALB2	HP:0012334	Extrahepatic cholestasis
79728	PALB2	HP:0001671	Abnormal cardiac septum morphology
79728	PALB2	HP:0000340	Sloping forehead
79728	PALB2	HP:0001679	Abnormal aortic morphology
79728	PALB2	HP:0000347	Micrognathia
79728	PALB2	HP:0000316	Hypertelorism
79728	PALB2	HP:0001646	Abnormal aortic valve morphology
79728	PALB2	HP:0001643	Patent ductus arteriosus
79728	PALB2	HP:0000324	Facial asymmetry
79728	PALB2	HP:0001629	Ventricular septal defect
79728	PALB2	HP:0001639	Hypertrophic cardiomyopathy
79728	PALB2	HP:0001636	Tetralogy of Fallot
79728	PALB2	HP:0001631	Atrial septal defect
79728	PALB2	HP:0005344	Abnormal carotid artery morphology
79728	PALB2	HP:0001738	Exocrine pancreatic insufficiency
79728	PALB2	HP:0000483	Astigmatism
79728	PALB2	HP:0000486	Strabismus
79728	PALB2	HP:0000478	Abnormality of the eye
79728	PALB2	HP:0000492	Abnormal eyelid morphology
79728	PALB2	HP:0000470	Short neck
79728	PALB2	HP:0001770	Toe syndactyly
79728	PALB2	HP:0012432	Chronic fatigue
79728	PALB2	HP:0001763	Pes planus
79728	PALB2	HP:0000453	Choanal atresia
79728	PALB2	HP:0001760	Abnormal foot morphology
79728	PALB2	HP:0006725	Pancreatic adenocarcinoma
79728	PALB2	HP:0030406	Primary peritoneal carcinoma
79728	PALB2	HP:0000518	Cataract
79728	PALB2	HP:0000520	Proptosis
79728	PALB2	HP:0001824	Weight loss
79728	PALB2	HP:0000508	Ptosis
79728	PALB2	HP:0000505	Visual impairment
79728	PALB2	HP:0000504	Abnormality of vision
79728	PALB2	HP:0000582	Upslanted palpebral fissure
79728	PALB2	HP:0000568	Microphthalmia
79728	PALB2	HP:0001871	Abnormality of blood and blood-forming tissues
79728	PALB2	HP:0001882	Leukopenia
79728	PALB2	HP:0001873	Thrombocytopenia
79731	NARS2	HP:0002490	Increased CSF lactate
79731	NARS2	HP:0008619	Bilateral sensorineural hearing impairment
79731	NARS2	HP:0009894	Thickened ears
79731	NARS2	HP:0003701	Proximal muscle weakness
79731	NARS2	HP:0001290	Generalized hypotonia
79731	NARS2	HP:0001272	Cerebellar atrophy
79731	NARS2	HP:0001274	Agenesis of corpus callosum
79731	NARS2	HP:0001284	Areflexia
79731	NARS2	HP:0001256	Intellectual disability, mild
79731	NARS2	HP:0001250	Seizure
79731	NARS2	HP:0001252	Hypotonia
79731	NARS2	HP:0001265	Hyporeflexia
79731	NARS2	HP:0001260	Dysarthria
79731	NARS2	HP:0001263	Global developmental delay
79731	NARS2	HP:0001257	Spasticity
79731	NARS2	HP:0002521	Hypsarrhythmia
79731	NARS2	HP:0002529	Neuronal loss in central nervous system
79731	NARS2	HP:0000097	Focal segmental glomerulosclerosis
79731	NARS2	HP:0001347	Hyperreflexia
79731	NARS2	HP:0001324	Muscle weakness
79731	NARS2	HP:0000007	Autosomal recessive inheritance
79731	NARS2	HP:0001488	Bilateral ptosis
79731	NARS2	HP:0008936	Axial hypotonia
79731	NARS2	HP:0002714	Downturned corners of mouth
79731	NARS2	HP:0002013	Vomiting
79731	NARS2	HP:0002079	Hypoplasia of the corpus callosum
79731	NARS2	HP:0003388	Easy fatigability
79731	NARS2	HP:0002151	Increased serum lactate
79731	NARS2	HP:0002133	Status epilepticus
79731	NARS2	HP:0003429	CNS hypomyelination
79731	NARS2	HP:0011923	Decreased activity of mitochondrial complex I
79731	NARS2	HP:0002180	Neurodegeneration
79731	NARS2	HP:0002171	Gliosis
79731	NARS2	HP:0003593	Infantile onset
79731	NARS2	HP:0100704	Cerebral visual impairment
79731	NARS2	HP:0200114	Metabolic alkalosis
79731	NARS2	HP:0008347	Decreased activity of mitochondrial complex IV
79731	NARS2	HP:0011968	Feeding difficulties
79731	NARS2	HP:0002376	Developmental regression
79731	NARS2	HP:0009830	Peripheral neuropathy
79731	NARS2	HP:0000639	Nystagmus
79731	NARS2	HP:0000648	Optic atrophy
79731	NARS2	HP:0001944	Dehydration
79731	NARS2	HP:0011342	Mild global developmental delay
79731	NARS2	HP:0003074	Hyperglycemia
79731	NARS2	HP:0003198	Myopathy
79731	NARS2	HP:0003196	Short nose
79731	NARS2	HP:0040025	Clinodactyly of the 4th finger
79731	NARS2	HP:0003236	Elevated circulating creatine kinase concentration
79731	NARS2	HP:0040217	Elevated hemoglobin A1c
79731	NARS2	HP:0003202	Skeletal muscle atrophy
79731	NARS2	HP:0003200	Ragged-red muscle fibers
79731	NARS2	HP:0030057	Autoimmune antibody positivity
79731	NARS2	HP:0000252	Microcephaly
79731	NARS2	HP:0000365	Hearing impairment
79731	NARS2	HP:0000343	Long philtrum
79731	NARS2	HP:0030319	Weakness of facial musculature
79731	NARS2	HP:0000463	Anteverted nares
79731	NARS2	HP:0001751	Abnormal vestibular function
79731	NARS2	HP:0005487	Prominent metopic ridge
79731	NARS2	HP:0000508	Ptosis
79734	KCTD17	HP:0025269	Panic attack
79734	KCTD17	HP:0001260	Dysarthria
79734	KCTD17	HP:0012075	Personality disorder
79734	KCTD17	HP:0012049	Laryngeal dystonia
79734	KCTD17	HP:0001332	Dystonia
79734	KCTD17	HP:0000006	Autosomal dominant inheritance
79734	KCTD17	HP:0001336	Myoclonus
79734	KCTD17	HP:0010531	Spinal myoclonus
79734	KCTD17	HP:0003676	Progressive
79734	KCTD17	HP:0002356	Writer's cramp
79734	KCTD17	HP:0003621	Juvenile onset
79734	KCTD17	HP:0000643	Blepharospasm
79734	KCTD17	HP:0000739	Anxiety
79734	KCTD17	HP:0000716	Depression
79734	KCTD17	HP:0000722	Compulsive behaviors
79734	KCTD17	HP:0011463	Childhood onset
79734	KCTD17	HP:0045084	Limb myoclonus
79734	KCTD17	HP:0001618	Dysphonia
79734	KCTD17	HP:0000473	Torticollis
79734	KCTD17	HP:0025708	Early young adult onset
79738	BBS10	HP:0001162	Postaxial hand polydactyly
79738	BBS10	HP:0001256	Intellectual disability, mild
79738	BBS10	HP:0001250	Seizure
79738	BBS10	HP:0001249	Intellectual disability
79738	BBS10	HP:0001263	Global developmental delay
79738	BBS10	HP:0006101	Finger syndactyly
79738	BBS10	HP:0008736	Hypoplasia of penis
79738	BBS10	HP:0008724	Hypoplasia of the ovary
79738	BBS10	HP:0000083	Renal insufficiency
79738	BBS10	HP:0001395	Hepatic fibrosis
79738	BBS10	HP:0000028	Cryptorchidism
79738	BBS10	HP:0000007	Autosomal recessive inheritance
79738	BBS10	HP:0000003	Multicystic kidney dysplasia
79738	BBS10	HP:0000135	Hypogonadism
79738	BBS10	HP:0000100	Nephrotic syndrome
79738	BBS10	HP:0000107	Renal cyst
79738	BBS10	HP:0010442	Polydactyly
79738	BBS10	HP:0002167	Abnormality of speech or vocalization
79738	BBS10	HP:0002230	Generalized hirsutism
79738	BBS10	HP:0010747	Medial flaring of the eyebrow
79738	BBS10	HP:0000639	Nystagmus
79738	BBS10	HP:0004322	Short stature
79738	BBS10	HP:0000822	Hypertension
79738	BBS10	HP:0003202	Skeletal muscle atrophy
79738	BBS10	HP:0001513	Obesity
79738	BBS10	HP:0000365	Hearing impairment
79738	BBS10	HP:0000368	Low-set, posteriorly rotated ears
79738	BBS10	HP:0000494	Downslanted palpebral fissures
79738	BBS10	HP:0000470	Short neck
79738	BBS10	HP:0000426	Prominent nasal bridge
79738	BBS10	HP:0000510	Rod-cone dystrophy
79738	BBS10	HP:0000512	Abnormal electroretinogram
79738	BBS10	HP:0000580	Pigmentary retinopathy
79738	BBS10	HP:0000556	Retinal dystrophy
79751	SLC25A22	HP:0010851	EEG with burst suppression
79751	SLC25A22	HP:0010850	EEG with spike-wave complexes
79751	SLC25A22	HP:0002421	Poor head control
79751	SLC25A22	HP:0001298	Encephalopathy
79751	SLC25A22	HP:0001272	Cerebellar atrophy
79751	SLC25A22	HP:0001254	Lethargy
79751	SLC25A22	HP:0001250	Seizure
79751	SLC25A22	HP:0001252	Hypotonia
79751	SLC25A22	HP:0001249	Intellectual disability
79751	SLC25A22	HP:0001266	Choreoathetosis
79751	SLC25A22	HP:0001263	Global developmental delay
79751	SLC25A22	HP:0001257	Spasticity
79751	SLC25A22	HP:0007359	Focal-onset seizure
79751	SLC25A22	HP:0002521	Hypsarrhythmia
79751	SLC25A22	HP:0002506	Diffuse cerebral atrophy
79751	SLC25A22	HP:0003819	Death in childhood
79751	SLC25A22	HP:0000070	Ureterocele
79751	SLC25A22	HP:0000054	Micropenis
79751	SLC25A22	HP:0001347	Hyperreflexia
79751	SLC25A22	HP:0001332	Dystonia
79751	SLC25A22	HP:0000007	Autosomal recessive inheritance
79751	SLC25A22	HP:0001337	Tremor
79751	SLC25A22	HP:0001336	Myoclonus
79751	SLC25A22	HP:0001302	Pachygyria
79751	SLC25A22	HP:0001319	Neonatal hypotonia
79751	SLC25A22	HP:0000175	Cleft palate
79751	SLC25A22	HP:0008947	Infantile muscular hypotonia
79751	SLC25A22	HP:0000110	Renal dysplasia
79751	SLC25A22	HP:0002033	Poor suck
79751	SLC25A22	HP:0002015	Dysphagia
79751	SLC25A22	HP:0002069	Bilateral tonic-clonic seizure
79751	SLC25A22	HP:0002079	Hypoplasia of the corpus callosum
79751	SLC25A22	HP:0002059	Cerebral atrophy
79751	SLC25A22	HP:0002123	Generalized myoclonic seizure
79751	SLC25A22	HP:0002121	Generalized non-motor (absence) seizure
79751	SLC25A22	HP:0002131	Episodic ataxia
79751	SLC25A22	HP:0100716	Self-injurious behavior
79751	SLC25A22	HP:0002205	Recurrent respiratory infections
79751	SLC25A22	HP:0200134	Epileptic encephalopathy
79751	SLC25A22	HP:0011968	Feeding difficulties
79751	SLC25A22	HP:0002360	Sleep disturbance
79751	SLC25A22	HP:0002376	Developmental regression
79751	SLC25A22	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
79751	SLC25A22	HP:0002353	EEG abnormality
79751	SLC25A22	HP:0007204	Diffuse white matter abnormalities
79751	SLC25A22	HP:0100660	Dyskinesia
79751	SLC25A22	HP:0010819	Atonic seizure
79751	SLC25A22	HP:0010818	Generalized tonic seizure
79751	SLC25A22	HP:0000649	Abnormality of visual evoked potentials
79751	SLC25A22	HP:0000752	Hyperactivity
79751	SLC25A22	HP:0000729	Autistic behavior
79751	SLC25A22	HP:0010174	Broad phalanx of the toes
79751	SLC25A22	HP:0000826	Precocious puberty
79751	SLC25A22	HP:0009381	Short finger
79751	SLC25A22	HP:0000253	Progressive microcephaly
79751	SLC25A22	HP:0000252	Microcephaly
79751	SLC25A22	HP:0001537	Umbilical hernia
79751	SLC25A22	HP:0001508	Failure to thrive
79751	SLC25A22	HP:0001500	Broad finger
79751	SLC25A22	HP:0000340	Sloping forehead
79751	SLC25A22	HP:0001629	Ventricular septal defect
79751	SLC25A22	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
79751	SLC25A22	HP:0011169	Generalized clonic seizure
79751	SLC25A22	HP:0011168	Focal seizure with eyelid myoclonia
79751	SLC25A22	HP:0011167	Focal tonic seizure
79751	SLC25A22	HP:0011153	Focal motor seizure
79751	SLC25A22	HP:0005280	Depressed nasal bridge
79751	SLC25A22	HP:0000486	Strabismus
79751	SLC25A22	HP:0012469	Infantile spasms
79751	SLC25A22	HP:0000463	Anteverted nares
79751	SLC25A22	HP:0012448	Delayed myelination
79751	SLC25A22	HP:0012554	Absent thumbnail
79753	SNIP1	HP:0001182	Tapered finger
79753	SNIP1	HP:0001250	Seizure
79753	SNIP1	HP:0001252	Hypotonia
79753	SNIP1	HP:0001265	Hyporeflexia
79753	SNIP1	HP:0002500	Abnormal cerebral white matter morphology
79753	SNIP1	HP:0000007	Autosomal recessive inheritance
79753	SNIP1	HP:0000158	Macroglossia
79753	SNIP1	HP:0000154	Wide mouth
79753	SNIP1	HP:0002079	Hypoplasia of the corpus callosum
79753	SNIP1	HP:0002119	Ventriculomegaly
79753	SNIP1	HP:0003429	CNS hypomyelination
79753	SNIP1	HP:0002263	Exaggerated cupid's bow
79753	SNIP1	HP:0011968	Feeding difficulties
79753	SNIP1	HP:0002353	EEG abnormality
79753	SNIP1	HP:0004279	Short palm
79753	SNIP1	HP:0001943	Hypoglycemia
79753	SNIP1	HP:0011344	Severe global developmental delay
79753	SNIP1	HP:0011304	Broad thumb
79753	SNIP1	HP:0000666	Horizontal nystagmus
79753	SNIP1	HP:0012802	Broad jaw
79753	SNIP1	HP:0000218	High palate
79753	SNIP1	HP:0001537	Umbilical hernia
79753	SNIP1	HP:0001518	Small for gestational age
79753	SNIP1	HP:0001607	Subglottic stenosis
79753	SNIP1	HP:0001601	Laryngomalacia
79753	SNIP1	HP:0000347	Micrognathia
79753	SNIP1	HP:0001650	Aortic valve stenosis
79753	SNIP1	HP:0001647	Bicuspid aortic valve
79753	SNIP1	HP:0000486	Strabismus
79753	SNIP1	HP:0000414	Bulbous nose
79753	SNIP1	HP:0001762	Talipes equinovarus
79755	ZNF750	HP:0000006	Autosomal dominant inheritance
79755	ZNF750	HP:0001051	Seborrheic dermatitis
79755	ZNF750	HP:0025092	Epidermal acanthosis
79755	ZNF750	HP:0032152	Keratosis pilaris
79755	ZNF750	HP:0000962	Hyperkeratosis
79770	TXNDC15	HP:0001177	Preaxial hand polydactyly
79770	TXNDC15	HP:0001162	Postaxial hand polydactyly
79770	TXNDC15	HP:0001159	Syndactyly
79770	TXNDC15	HP:0010880	Increased nuchal translucency
79770	TXNDC15	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
79770	TXNDC15	HP:0000068	Urethral atresia
79770	TXNDC15	HP:0000062	Ambiguous genitalia
79770	TXNDC15	HP:0001395	Hepatic fibrosis
79770	TXNDC15	HP:0000073	Ureteral duplication
79770	TXNDC15	HP:0000037	Male pseudohermaphroditism
79770	TXNDC15	HP:0001360	Holoprosencephaly
79770	TXNDC15	HP:0000028	Cryptorchidism
79770	TXNDC15	HP:0000007	Autosomal recessive inheritance
79770	TXNDC15	HP:0000003	Multicystic kidney dysplasia
79770	TXNDC15	HP:0001305	Dandy-Walker malformation
79770	TXNDC15	HP:0002612	Congenital hepatic fibrosis
79770	TXNDC15	HP:0000175	Cleft palate
79770	TXNDC15	HP:0000151	Aplasia of the uterus
79770	TXNDC15	HP:0000113	Polycystic kidney dysplasia
79770	TXNDC15	HP:0002089	Pulmonary hypoplasia
79770	TXNDC15	HP:0002085	Occipital encephalocele
79770	TXNDC15	HP:0002084	Encephalocele
79770	TXNDC15	HP:0010459	True hermaphroditism
79770	TXNDC15	HP:0002107	Pneumothorax
79770	TXNDC15	HP:0003577	Congenital onset
79770	TXNDC15	HP:0100732	Pancreatic fibrosis
79770	TXNDC15	HP:0002323	Anencephaly
79770	TXNDC15	HP:0006870	Lobar holoprosencephaly
79770	TXNDC15	HP:0000648	Optic atrophy
79770	TXNDC15	HP:0000647	Sclerocornea
79770	TXNDC15	HP:0030680	Abnormality of cardiovascular system morphology
79770	TXNDC15	HP:0034199	Late first trimester onset
79770	TXNDC15	HP:0034198	Second trimester onset
79770	TXNDC15	HP:0010295	Aplasia/Hypoplasia of the tongue
79770	TXNDC15	HP:0003270	Abdominal distention
79770	TXNDC15	HP:0100259	Postaxial polydactyly
79770	TXNDC15	HP:0000961	Cyanosis
79770	TXNDC15	HP:0008053	Aplasia/Hypoplasia of the iris
79770	TXNDC15	HP:0000278	Retrognathia
79770	TXNDC15	HP:0000293	Full cheeks
79770	TXNDC15	HP:0000238	Hydrocephalus
79770	TXNDC15	HP:0000252	Microcephaly
79770	TXNDC15	HP:0000221	Furrowed tongue
79770	TXNDC15	HP:0001562	Oligohydramnios
79770	TXNDC15	HP:0001538	Protuberant abdomen
79770	TXNDC15	HP:0006543	Cardiorespiratory arrest
79770	TXNDC15	HP:0005180	Tricuspid regurgitation
79770	TXNDC15	HP:0006487	Bowing of the long bones
79770	TXNDC15	HP:0001696	Situs inversus totalis
79770	TXNDC15	HP:0000369	Low-set ears
79770	TXNDC15	HP:0000368	Low-set, posteriorly rotated ears
79770	TXNDC15	HP:0000340	Sloping forehead
79770	TXNDC15	HP:0000347	Micrognathia
79770	TXNDC15	HP:0000316	Hypertelorism
79770	TXNDC15	HP:0001653	Mitral regurgitation
79770	TXNDC15	HP:0000308	Microretrognathia
79770	TXNDC15	HP:0001737	Pancreatic cysts
79770	TXNDC15	HP:0000482	Microcornea
79770	TXNDC15	HP:0000463	Anteverted nares
79770	TXNDC15	HP:0000457	Depressed nasal ridge
79770	TXNDC15	HP:0000470	Short neck
79770	TXNDC15	HP:0001750	Single ventricle
79770	TXNDC15	HP:0001746	Asplenia
79770	TXNDC15	HP:0001747	Accessory spleen
79770	TXNDC15	HP:0006706	Cystic liver disease
79770	TXNDC15	HP:0005474	Decreased calvarial ossification
79770	TXNDC15	HP:0000518	Cataract
79770	TXNDC15	HP:0000528	Anophthalmia
79770	TXNDC15	HP:0001830	Postaxial foot polydactyly
79770	TXNDC15	HP:0000568	Microphthalmia
79770	TXNDC15	HP:0000532	Abnormal chorioretinal morphology
79770	TXNDC15	HP:0001883	Talipes
79776	ZFHX4	HP:0001250	Seizure
79776	ZFHX4	HP:0007544	Piebaldism
79776	ZFHX4	HP:0000006	Autosomal dominant inheritance
79776	ZFHX4	HP:0001491	Congenital fibrosis of extraocular muscles
79776	ZFHX4	HP:0001477	Compensatory chin elevation
79776	ZFHX4	HP:0007687	Unilateral ptosis
79776	ZFHX4	HP:0007663	Reduced visual acuity
79776	ZFHX4	HP:0002003	Large forehead
79776	ZFHX4	HP:0008209	Premature ovarian insufficiency
79776	ZFHX4	HP:0007188	Congenital facial diplegia
79776	ZFHX4	HP:0006837	Congenital Horner syndrome
79776	ZFHX4	HP:0000646	Amblyopia
79776	ZFHX4	HP:0000602	Ophthalmoplegia
79776	ZFHX4	HP:0009058	Increased muscle lipid content
79776	ZFHX4	HP:0001999	Abnormal facial shape
79776	ZFHX4	HP:0012758	Neurodevelopmental delay
79776	ZFHX4	HP:0012803	Anisometropia
79776	ZFHX4	HP:0000957	Cafe-au-lait spot
79776	ZFHX4	HP:0000970	Anhidrosis
79776	ZFHX4	HP:0007728	Congenital miosis
79776	ZFHX4	HP:0007946	Unilateral narrow palpebral fissure
79776	ZFHX4	HP:0007911	Congenital bilateral ptosis
79776	ZFHX4	HP:0007970	Congenital ptosis
79776	ZFHX4	HP:0000483	Astigmatism
79776	ZFHX4	HP:0000486	Strabismus
79776	ZFHX4	HP:0005487	Prominent metopic ridge
79776	ZFHX4	HP:0000527	Long eyelashes
79776	ZFHX4	HP:0000506	Telecanthus
79776	ZFHX4	HP:0000540	Hypermetropia
79776	ZFHX4	HP:0000539	Abnormality of refraction
79776	ZFHX4	HP:0000537	Epicanthus inversus
79776	ZFHX4	HP:0000545	Myopia
79783	SUGCT	HP:0001254	Lethargy
79783	SUGCT	HP:0001263	Global developmental delay
79783	SUGCT	HP:0002518	Abnormal periventricular white matter morphology
79783	SUGCT	HP:0002500	Abnormal cerebral white matter morphology
79783	SUGCT	HP:0001328	Specific learning disability
79783	SUGCT	HP:0000007	Autosomal recessive inheritance
79783	SUGCT	HP:0002014	Diarrhea
79783	SUGCT	HP:0002013	Vomiting
79783	SUGCT	HP:0100710	Impulsivity
79783	SUGCT	HP:0003530	Elevated circulating glutaric acid concentration
79783	SUGCT	HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity
79783	SUGCT	HP:0001993	Ketoacidosis
79783	SUGCT	HP:0003150	Glutaric aciduria
79783	SUGCT	HP:0000853	Goiter
79783	SUGCT	HP:0000836	Hyperthyroidism
79783	SUGCT	HP:0000822	Hypertension
79783	SUGCT	HP:0000960	Sacral dimple
79783	SUGCT	HP:0001508	Failure to thrive
79783	SUGCT	HP:0002919	Ketonuria
79783	SUGCT	HP:0011021	Abnormality of circulating enzyme level
79784	MYH14	HP:0002460	Distal muscle weakness
79784	MYH14	HP:0008619	Bilateral sensorineural hearing impairment
79784	MYH14	HP:0003701	Proximal muscle weakness
79784	MYH14	HP:0001284	Areflexia
79784	MYH14	HP:0001250	Seizure
79784	MYH14	HP:0001265	Hyporeflexia
79784	MYH14	HP:0033685	Fiber type grouping
79784	MYH14	HP:0007340	Lower limb muscle weakness
79784	MYH14	HP:0001369	Arthritis
79784	MYH14	HP:0001337	Tremor
79784	MYH14	HP:0000006	Autosomal dominant inheritance
79784	MYH14	HP:0002015	Dysphagia
79784	MYH14	HP:0011808	Decreased patellar reflex
79784	MYH14	HP:0008180	Mildly elevated creatine kinase
79784	MYH14	HP:0003458	EMG: myopathic abnormalities
79784	MYH14	HP:0003557	Increased variability in muscle fiber diameter
79784	MYH14	HP:0003693	Distal amyotrophy
79784	MYH14	HP:0003676	Progressive
79784	MYH14	HP:0009830	Peripheral neuropathy
79784	MYH14	HP:0003621	Juvenile onset
79784	MYH14	HP:0006844	Absent patellar reflexes
79784	MYH14	HP:0009063	Progressive distal muscle weakness
79784	MYH14	HP:0000762	Decreased nerve conduction velocity
79784	MYH14	HP:0030774	Mitochondrial swelling
79784	MYH14	HP:0003198	Myopathy
79784	MYH14	HP:0010219	Structural foot deformity
79784	MYH14	HP:0001609	Hoarse voice
79784	MYH14	HP:0002936	Distal sensory impairment
79784	MYH14	HP:0001605	Vocal cord paralysis
79784	MYH14	HP:0000365	Hearing impairment
79784	MYH14	HP:0000408	Progressive sensorineural hearing impairment
79784	MYH14	HP:0001760	Abnormal foot morphology
79784	MYH14	HP:0012548	Fatty replacement of skeletal muscle
79791	FBXO31	HP:0001249	Intellectual disability
79791	FBXO31	HP:0002553	Highly arched eyebrow
79791	FBXO31	HP:0000007	Autosomal recessive inheritance
79791	FBXO31	HP:0000664	Synophrys
79791	FBXO31	HP:0000280	Coarse facial features
79791	FBXO31	HP:0000278	Retrognathia
79791	FBXO31	HP:0012368	Flat face
79791	FBXO31	HP:0000336	Prominent supraorbital ridges
79791	FBXO31	HP:0000316	Hypertelorism
79791	FBXO31	HP:0000311	Round face
79791	FBXO31	HP:0000331	Short chin
79791	FBXO31	HP:0012471	Thick vermilion border
79791	FBXO31	HP:0000494	Downslanted palpebral fissures
79791	FBXO31	HP:0000490	Deeply set eye
79791	FBXO31	HP:0000463	Anteverted nares
79791	FBXO31	HP:0000414	Bulbous nose
79791	FBXO31	HP:0000431	Wide nasal bridge
79791	FBXO31	HP:0000582	Upslanted palpebral fissure
79791	FBXO31	HP:0011220	Prominent forehead
79791	FBXO31	HP:0000574	Thick eyebrow
79796	ALG9	HP:0002465	Poor speech
79796	ALG9	HP:0003774	Stage 5 chronic kidney disease
79796	ALG9	HP:0001290	Generalized hypotonia
79796	ALG9	HP:0001272	Cerebellar atrophy
79796	ALG9	HP:0001250	Seizure
79796	ALG9	HP:0001252	Hypotonia
79796	ALG9	HP:0001249	Intellectual disability
79796	ALG9	HP:0001263	Global developmental delay
79796	ALG9	HP:0001234	Hitchhiker thumb
79796	ALG9	HP:0002557	Hypoplastic nipples
79796	ALG9	HP:0008776	Abnormal renal artery morphology
79796	ALG9	HP:0008724	Hypoplasia of the ovary
79796	ALG9	HP:0100865	Broad ischia
79796	ALG9	HP:0007385	Aplasia cutis congenita of scalp
79796	ALG9	HP:0032313	Frontotemporal hypertrichosis
79796	ALG9	HP:0000083	Renal insufficiency
79796	ALG9	HP:0001371	Flexion contracture
79796	ALG9	HP:0001347	Hyperreflexia
79796	ALG9	HP:0000010	Recurrent urinary tract infections
79796	ALG9	HP:0000007	Autosomal recessive inheritance
79796	ALG9	HP:0002652	Skeletal dysplasia
79796	ALG9	HP:0002616	Aortic root aneurysm
79796	ALG9	HP:0032464	Ureteral hypoplasia
79796	ALG9	HP:0008905	Rhizomelia
79796	ALG9	HP:0000193	Bifid uvula
79796	ALG9	HP:0000154	Wide mouth
79796	ALG9	HP:0000113	Polycystic kidney dysplasia
79796	ALG9	HP:0000126	Hydronephrosis
79796	ALG9	HP:0000107	Renal cyst
79796	ALG9	HP:0001433	Hepatosplenomegaly
79796	ALG9	HP:0000105	Enlarged kidney
79796	ALG9	HP:0001405	Periportal fibrosis
79796	ALG9	HP:0001407	Hepatic cysts
79796	ALG9	HP:0002750	Delayed skeletal maturation
79796	ALG9	HP:0002020	Gastroesophageal reflux
79796	ALG9	HP:0002014	Diarrhea
79796	ALG9	HP:0002013	Vomiting
79796	ALG9	HP:0002007	Frontal bossing
79796	ALG9	HP:0002089	Pulmonary hypoplasia
79796	ALG9	HP:0002099	Asthma
79796	ALG9	HP:0002061	Lower limb spasticity
79796	ALG9	HP:0003375	Narrow greater sciatic notch
79796	ALG9	HP:0002059	Cerebral atrophy
79796	ALG9	HP:0011760	Pituitary growth hormone cell adenoma
79796	ALG9	HP:0009487	Ulnar deviation of the hand
79796	ALG9	HP:0002101	Abnormal lung lobation
79796	ALG9	HP:0002188	Delayed CNS myelination
79796	ALG9	HP:0002162	Low posterior hairline
79796	ALG9	HP:0011849	Abnormal bone ossification
79796	ALG9	HP:0002265	Large fleshy ears
79796	ALG9	HP:0003577	Congenital onset
79796	ALG9	HP:0002240	Hepatomegaly
79796	ALG9	HP:0100702	Arachnoid cyst
79796	ALG9	HP:0200134	Epileptic encephalopathy
79796	ALG9	HP:0002283	Global brain atrophy
79796	ALG9	HP:0010763	Low insertion of columella
79796	ALG9	HP:0004944	Dilatation of the cerebral artery
79796	ALG9	HP:0012622	Chronic kidney disease
79796	ALG9	HP:0009004	Hypoplasia of the musculature
79796	ALG9	HP:0001999	Abnormal facial shape
79796	ALG9	HP:0004331	Decreased skull ossification
79796	ALG9	HP:0003015	Flared metaphysis
79796	ALG9	HP:0003016	Metaphyseal widening
79796	ALG9	HP:0003026	Short long bone
79796	ALG9	HP:0000737	Irritability
79796	ALG9	HP:0012704	Widened subarachnoid space
79796	ALG9	HP:0011473	Villous atrophy
79796	ALG9	HP:0009125	Lipodystrophy
79796	ALG9	HP:0000776	Congenital diaphragmatic hernia
79796	ALG9	HP:0000790	Hematuria
79796	ALG9	HP:0000787	Nephrolithiasis
79796	ALG9	HP:0003196	Short nose
79796	ALG9	HP:0003186	Inverted nipples
79796	ALG9	HP:0000813	Bicornuate uterus
79796	ALG9	HP:0000822	Hypertension
79796	ALG9	HP:0003259	Elevated circulating creatinine concentration
79796	ALG9	HP:0000998	Hypertrichosis
79796	ALG9	HP:0000969	Edema
79796	ALG9	HP:0000286	Epicanthus
79796	ALG9	HP:0000278	Retrognathia
79796	ALG9	HP:0000260	Wide anterior fontanel
79796	ALG9	HP:0000270	Delayed cranial suture closure
79796	ALG9	HP:0005133	Right ventricular dilatation
79796	ALG9	HP:0002827	Hip dislocation
79796	ALG9	HP:0002808	Kyphosis
79796	ALG9	HP:0000253	Progressive microcephaly
79796	ALG9	HP:0000252	Microcephaly
79796	ALG9	HP:0012213	Decreased glomerular filtration rate
79796	ALG9	HP:0000248	Brachycephaly
79796	ALG9	HP:0012207	Reduced sperm motility
79796	ALG9	HP:0000219	Thin upper lip vermilion
79796	ALG9	HP:0001562	Oligohydramnios
79796	ALG9	HP:0001561	Polyhydramnios
79796	ALG9	HP:0001558	Decreased fetal movement
79796	ALG9	HP:0001541	Ascites
79796	ALG9	HP:0001539	Omphalocele
79796	ALG9	HP:0001508	Failure to thrive
79796	ALG9	HP:0006557	Polycystic liver disease
79796	ALG9	HP:0005180	Tricuspid regurgitation
79796	ALG9	HP:0000358	Posteriorly rotated ears
79796	ALG9	HP:0011004	Abnormal systemic arterial morphology
79796	ALG9	HP:0001698	Pericardial effusion
79796	ALG9	HP:0000369	Low-set ears
79796	ALG9	HP:0000368	Low-set, posteriorly rotated ears
79796	ALG9	HP:0001671	Abnormal cardiac septum morphology
79796	ALG9	HP:0000343	Long philtrum
79796	ALG9	HP:0012330	Pyelonephritis
79796	ALG9	HP:0000347	Micrognathia
79796	ALG9	HP:0000319	Smooth philtrum
79796	ALG9	HP:0000316	Hypertelorism
79796	ALG9	HP:0001629	Ventricular septal defect
79796	ALG9	HP:0001627	Abnormal heart morphology
79796	ALG9	HP:0000308	Microretrognathia
79796	ALG9	HP:0001631	Atrial septal defect
79796	ALG9	HP:0001634	Mitral valve prolapse
79796	ALG9	HP:0006610	Wide intermamillary distance
79796	ALG9	HP:0005343	Hypoplasia of the bladder
79796	ALG9	HP:0001737	Pancreatic cysts
79796	ALG9	HP:0005280	Depressed nasal bridge
79796	ALG9	HP:0030215	Inappropriate crying
79796	ALG9	HP:0012448	Delayed myelination
79796	ALG9	HP:0001789	Hydrops fetalis
79796	ALG9	HP:0000473	Torticollis
79796	ALG9	HP:0000474	Thickened nuchal skin fold
79796	ALG9	HP:0000470	Short neck
79796	ALG9	HP:0011103	Abnormal left ventricular outflow tract morphology
79796	ALG9	HP:0000444	Convex nasal ridge
79796	ALG9	HP:0001762	Talipes equinovarus
79796	ALG9	HP:0000430	Underdeveloped nasal alae
79796	ALG9	HP:0005487	Prominent metopic ridge
79796	ALG9	HP:0000520	Proptosis
79796	ALG9	HP:0000506	Telecanthus
79796	ALG9	HP:0012591	Abnormal urinary electrolyte concentration
79796	ALG9	HP:0012592	Albuminuria
79796	ALG9	HP:0000586	Shallow orbits
79796	ALG9	HP:0000565	Esotropia
79796	ALG9	HP:0012531	Pain
79797	ZNF408	HP:0001133	Constriction of peripheral visual field
79797	ZNF408	HP:0001141	Severely reduced visual acuity
79797	ZNF408	HP:0001270	Motor delay
79797	ZNF408	HP:0100832	Vitreous floaters
79797	ZNF408	HP:0001256	Intellectual disability, mild
79797	ZNF408	HP:0001249	Intellectual disability
79797	ZNF408	HP:0008736	Hypoplasia of penis
79797	ZNF408	HP:0001347	Hyperreflexia
79797	ZNF408	HP:0000035	Abnormal testis morphology
79797	ZNF408	HP:0000007	Autosomal recessive inheritance
79797	ZNF408	HP:0000006	Autosomal dominant inheritance
79797	ZNF408	HP:0001493	Falciform retinal fold
79797	ZNF408	HP:0001489	Posterior vitreous detachment
79797	ZNF408	HP:0000135	Hypogonadism
79797	ZNF408	HP:0007685	Peripheral retinal avascularization
79797	ZNF408	HP:0007675	Progressive night blindness
79797	ZNF408	HP:0007663	Reduced visual acuity
79797	ZNF408	HP:0500087	Peripapillary atrophy
79797	ZNF408	HP:0005978	Type II diabetes mellitus
79797	ZNF408	HP:0003596	Middle age onset
79797	ZNF408	HP:0001004	Lymphedema
79797	ZNF408	HP:0030503	Macular telangiectasia
79797	ZNF408	HP:0000639	Nystagmus
79797	ZNF408	HP:0000648	Optic atrophy
79797	ZNF408	HP:0000618	Blindness
79797	ZNF408	HP:0000613	Photophobia
79797	ZNF408	HP:0000602	Ophthalmoplegia
79797	ZNF408	HP:0030490	Exudative vitreoretinopathy
79797	ZNF408	HP:0030496	Macular exudate
79797	ZNF408	HP:0011342	Mild global developmental delay
79797	ZNF408	HP:0000662	Nyctalopia
79797	ZNF408	HP:0030666	Retinal neovascularization
79797	ZNF408	HP:0004349	Reduced bone mineral density
79797	ZNF408	HP:0100014	Epiretinal membrane
79797	ZNF408	HP:0012795	Abnormal optic disc morphology
79797	ZNF408	HP:0011462	Young adult onset
79797	ZNF408	HP:0000842	Hyperinsulinemia
79797	ZNF408	HP:0040049	Macular edema
79797	ZNF408	HP:0000987	Atypical scarring of skin
79797	ZNF408	HP:0008046	Abnormal retinal vascular morphology
79797	ZNF408	HP:0007703	Abnormality of retinal pigmentation
79797	ZNF408	HP:0007787	Posterior subcapsular cataract
79797	ZNF408	HP:0007773	Vitreoretinopathy
79797	ZNF408	HP:0007737	Bone spicule pigmentation of the retina
79797	ZNF408	HP:0012230	Rhegmatogenous retinal detachment
79797	ZNF408	HP:0000252	Microcephaly
79797	ZNF408	HP:0001513	Obesity
79797	ZNF408	HP:0007843	Attenuation of retinal blood vessels
79797	ZNF408	HP:0031526	Subretinal fluid
79797	ZNF408	HP:0000365	Hearing impairment
79797	ZNF408	HP:0011003	High myopia
79797	ZNF408	HP:0007917	Tractional retinal detachment
79797	ZNF408	HP:0007902	Vitreous hemorrhage
79797	ZNF408	HP:0000407	Sensorineural hearing impairment
79797	ZNF408	HP:0000405	Conductive hearing impairment
79797	ZNF408	HP:0000463	Anteverted nares
79797	ZNF408	HP:0000431	Wide nasal bridge
79797	ZNF408	HP:0000518	Cataract
79797	ZNF408	HP:0000510	Rod-cone dystrophy
79797	ZNF408	HP:0000512	Abnormal electroretinogram
79797	ZNF408	HP:0000529	Progressive visual loss
79797	ZNF408	HP:0000505	Visual impairment
79797	ZNF408	HP:0000501	Glaucoma
79797	ZNF408	HP:0000563	Keratoconus
79797	ZNF408	HP:0000568	Microphthalmia
79797	ZNF408	HP:0000541	Retinal detachment
79797	ZNF408	HP:0000533	Chorioretinal atrophy
79797	ZNF408	HP:0000543	Optic disc pallor
79797	ZNF408	HP:0000545	Myopia
79798	ARMC5	HP:0003701	Proximal muscle weakness
79798	ARMC5	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test
79798	ARMC5	HP:0025383	Dorsocervical fat pad
79798	ARMC5	HP:0001397	Hepatic steatosis
79798	ARMC5	HP:0012030	Increased urinary cortisol level
79798	ARMC5	HP:0002659	Increased susceptibility to fractures
79798	ARMC5	HP:0000006	Autosomal dominant inheritance
79798	ARMC5	HP:0500011	Moon facies
79798	ARMC5	HP:0001428	Somatic mutation
79798	ARMC5	HP:0100543	Cognitive impairment
79798	ARMC5	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
79798	ARMC5	HP:0008231	Macronodular adrenal hyperplasia
79798	ARMC5	HP:0008200	Primary hyperparathyroidism
79798	ARMC5	HP:0003581	Adult onset
79798	ARMC5	HP:0100754	Mania
79798	ARMC5	HP:0001050	Plethora
79798	ARMC5	HP:0001065	Striae distensae
79798	ARMC5	HP:0001061	Acne
79798	ARMC5	HP:0001007	Hirsutism
79798	ARMC5	HP:0002354	Memory impairment
79798	ARMC5	HP:0100634	Neuroendocrine neoplasm
79798	ARMC5	HP:0007126	Proximal amyotrophy
79798	ARMC5	HP:0031845	Abnormal libido
79798	ARMC5	HP:0005584	Renal cell carcinoma
79798	ARMC5	HP:0001952	Glucose intolerance
79798	ARMC5	HP:0004324	Increased body weight
79798	ARMC5	HP:0003077	Hyperlipidemia
79798	ARMC5	HP:0003074	Hyperglycemia
79798	ARMC5	HP:0012743	Abdominal obesity
79798	ARMC5	HP:0000716	Depression
79798	ARMC5	HP:0000712	Emotional lability
79798	ARMC5	HP:0000725	Psychotic episodes
79798	ARMC5	HP:0000787	Nephrolithiasis
79798	ARMC5	HP:0003118	Increased circulating cortisol level
79798	ARMC5	HP:0000859	Hyperaldosteronism
79798	ARMC5	HP:0000858	Irregular menstruation
79798	ARMC5	HP:0000822	Hypertension
79798	ARMC5	HP:0000978	Bruising susceptibility
79798	ARMC5	HP:0000939	Osteoporosis
79798	ARMC5	HP:0001596	Alopecia
79798	ARMC5	HP:0002893	Pituitary adenoma
79798	ARMC5	HP:0002858	Meningioma
79798	ARMC5	HP:0012378	Fatigue
79798	ARMC5	HP:0002920	Decreased circulating ACTH level
79798	ARMC5	HP:0000311	Round face
79803	HPS6	HP:0001107	Ocular albinism
79803	HPS6	HP:0001104	Macular hypoplasia
79803	HPS6	HP:0001263	Global developmental delay
79803	HPS6	HP:0000007	Autosomal recessive inheritance
79803	HPS6	HP:0007663	Reduced visual acuity
79803	HPS6	HP:0002788	Recurrent upper respiratory tract infections
79803	HPS6	HP:0011883	Abnormal platelet granules
79803	HPS6	HP:0002206	Pulmonary fibrosis
79803	HPS6	HP:0004866	Impaired ADP-induced platelet aggregation
79803	HPS6	HP:0001010	Hypopigmentation of the skin
79803	HPS6	HP:0001022	Albinism
79803	HPS6	HP:0000639	Nystagmus
79803	HPS6	HP:0000646	Amblyopia
79803	HPS6	HP:0000613	Photophobia
79803	HPS6	HP:0003010	Prolonged bleeding time
79803	HPS6	HP:0030825	Absent foveal reflex
79803	HPS6	HP:0000978	Bruising susceptibility
79803	HPS6	HP:0031364	Ecchymosis
79803	HPS6	HP:0000486	Strabismus
79803	HPS6	HP:0000421	Epistaxis
79803	HPS6	HP:0001892	Abnormal bleeding
79809	TTC21B	HP:0001156	Brachydactyly
79809	TTC21B	HP:0001162	Postaxial hand polydactyly
79809	TTC21B	HP:0003774	Stage 5 chronic kidney disease
79809	TTC21B	HP:0000083	Renal insufficiency
79809	TTC21B	HP:0000090	Nephronophthisis
79809	TTC21B	HP:0001392	Abnormality of the liver
79809	TTC21B	HP:0008872	Feeding difficulties in infancy
79809	TTC21B	HP:0000007	Autosomal recessive inheritance
79809	TTC21B	HP:0000006	Autosomal dominant inheritance
79809	TTC21B	HP:0002652	Skeletal dysplasia
79809	TTC21B	HP:0002650	Scoliosis
79809	TTC21B	HP:0002644	Abnormal pelvic girdle bone morphology
79809	TTC21B	HP:0000112	Nephropathy
79809	TTC21B	HP:0001407	Hepatic cysts
79809	TTC21B	HP:0002093	Respiratory insufficiency
79809	TTC21B	HP:0010442	Polydactyly
79809	TTC21B	HP:0010579	Cone-shaped epiphysis
79809	TTC21B	HP:0004322	Short stature
79809	TTC21B	HP:0003026	Short long bone
79809	TTC21B	HP:0000772	Abnormal rib morphology
79809	TTC21B	HP:0000766	Abnormal sternum morphology
79809	TTC21B	HP:0000774	Narrow chest
79809	TTC21B	HP:0000889	Abnormal clavicle morphology
79809	TTC21B	HP:0010306	Short thorax
79809	TTC21B	HP:0000944	Abnormal metaphysis morphology
79809	TTC21B	HP:0007703	Abnormality of retinal pigmentation
79809	TTC21B	HP:0002983	Micromelia
79809	TTC21B	HP:0001770	Toe syndactyly
79809	TTC21B	HP:0001773	Short foot
79809	TTC21B	HP:0006703	Aplasia/Hypoplasia of the lungs
79809	TTC21B	HP:0001830	Postaxial foot polydactyly
79813	EHMT1	HP:0001182	Tapered finger
79813	EHMT1	HP:0001156	Brachydactyly
79813	EHMT1	HP:0002463	Language impairment
79813	EHMT1	HP:0009909	Uplifted earlobe
79813	EHMT1	HP:0010864	Intellectual disability, severe
79813	EHMT1	HP:0003745	Sporadic
79813	EHMT1	HP:0001290	Generalized hypotonia
79813	EHMT1	HP:0001274	Agenesis of corpus callosum
79813	EHMT1	HP:0001270	Motor delay
79813	EHMT1	HP:0001250	Seizure
79813	EHMT1	HP:0001252	Hypotonia
79813	EHMT1	HP:0001249	Intellectual disability
79813	EHMT1	HP:0001263	Global developmental delay
79813	EHMT1	HP:0008736	Hypoplasia of penis
79813	EHMT1	HP:0410263	Brain imaging abnormality
79813	EHMT1	HP:0002553	Highly arched eyebrow
79813	EHMT1	HP:0002500	Abnormal cerebral white matter morphology
79813	EHMT1	HP:0000083	Renal insufficiency
79813	EHMT1	HP:0000077	Abnormality of the kidney
79813	EHMT1	HP:0000076	Vesicoureteral reflux
79813	EHMT1	HP:0000078	Abnormality of the genital system
79813	EHMT1	HP:0000054	Micropenis
79813	EHMT1	HP:0000047	Hypospadias
79813	EHMT1	HP:0000023	Inguinal hernia
79813	EHMT1	HP:0000035	Abnormal testis morphology
79813	EHMT1	HP:0001357	Plagiocephaly
79813	EHMT1	HP:0000028	Cryptorchidism
79813	EHMT1	HP:0001331	Absent septum pellucidum
79813	EHMT1	HP:0001328	Specific learning disability
79813	EHMT1	HP:0000006	Autosomal dominant inheritance
79813	EHMT1	HP:0001321	Cerebellar hypoplasia
79813	EHMT1	HP:0000179	Thick lower lip vermilion
79813	EHMT1	HP:0000164	Abnormality of the dentition
79813	EHMT1	HP:0012157	Subcortical cerebral atrophy
79813	EHMT1	HP:0000158	Macroglossia
79813	EHMT1	HP:0006335	Persistence of primary teeth
79813	EHMT1	HP:0002779	Tracheomalacia
79813	EHMT1	HP:0002786	Tracheobronchomalacia
79813	EHMT1	HP:0002719	Recurrent infections
79813	EHMT1	HP:0002714	Downturned corners of mouth
79813	EHMT1	HP:0002023	Anal atresia
79813	EHMT1	HP:0002020	Gastroesophageal reflux
79813	EHMT1	HP:0011800	Midface retrusion
79813	EHMT1	HP:0100541	Femoral hernia
79813	EHMT1	HP:0002079	Hypoplasia of the corpus callosum
79813	EHMT1	HP:0002120	Cerebral cortical atrophy
79813	EHMT1	HP:0002121	Generalized non-motor (absence) seizure
79813	EHMT1	HP:0002119	Ventriculomegaly
79813	EHMT1	HP:0002133	Status epilepticus
79813	EHMT1	HP:0002194	Delayed gross motor development
79813	EHMT1	HP:0002171	Gliosis
79813	EHMT1	HP:0010529	Echolalia
79813	EHMT1	HP:0100716	Self-injurious behavior
79813	EHMT1	HP:0002205	Recurrent respiratory infections
79813	EHMT1	HP:0011968	Feeding difficulties
79813	EHMT1	HP:0002381	Aphasia
79813	EHMT1	HP:0002360	Sleep disturbance
79813	EHMT1	HP:0200005	Abnormal shape of the palpebral fissure
79813	EHMT1	HP:0010808	Protruding tongue
79813	EHMT1	HP:0010806	U-Shaped upper lip vermilion
79813	EHMT1	HP:0002300	Mutism
79813	EHMT1	HP:0006863	Severe expressive language delay
79813	EHMT1	HP:0011351	Moderate receptive language delay
79813	EHMT1	HP:0000695	Natal tooth
79813	EHMT1	HP:0001999	Abnormal facial shape
79813	EHMT1	HP:0000664	Synophrys
79813	EHMT1	HP:0004322	Short stature
79813	EHMT1	HP:0000737	Irritability
79813	EHMT1	HP:0000739	Anxiety
79813	EHMT1	HP:0000750	Delayed speech and language development
79813	EHMT1	HP:0000741	Apathy
79813	EHMT1	HP:0000716	Depression
79813	EHMT1	HP:0000718	Aggressive behavior
79813	EHMT1	HP:0000717	Autism
79813	EHMT1	HP:0000729	Autistic behavior
79813	EHMT1	HP:0000708	Atypical behavior
79813	EHMT1	HP:0003196	Short nose
79813	EHMT1	HP:0100308	Cerebral cortical hemiatrophy
79813	EHMT1	HP:0000826	Precocious puberty
79813	EHMT1	HP:0000974	Hyperextensible skin
79813	EHMT1	HP:0000954	Single transverse palmar crease
79813	EHMT1	HP:0000280	Coarse facial features
79813	EHMT1	HP:0000272	Malar flattening
79813	EHMT1	HP:0000252	Microcephaly
79813	EHMT1	HP:0000248	Brachycephaly
79813	EHMT1	HP:0012210	Abnormal renal morphology
79813	EHMT1	HP:0001548	Overgrowth
79813	EHMT1	HP:0000232	Everted lower lip vermilion
79813	EHMT1	HP:0001537	Umbilical hernia
79813	EHMT1	HP:0001508	Failure to thrive
79813	EHMT1	HP:0001520	Large for gestational age
79813	EHMT1	HP:0001510	Growth delay
79813	EHMT1	HP:0001513	Obesity
79813	EHMT1	HP:0011097	Epileptic spasm
79813	EHMT1	HP:0012368	Flat face
79813	EHMT1	HP:0000377	Abnormal pinna morphology
79813	EHMT1	HP:0000365	Hearing impairment
79813	EHMT1	HP:0001671	Abnormal cardiac septum morphology
79813	EHMT1	HP:0001680	Coarctation of aorta
79813	EHMT1	HP:0001650	Aortic valve stenosis
79813	EHMT1	HP:0000316	Hypertelorism
79813	EHMT1	HP:0001659	Aortic regurgitation
79813	EHMT1	HP:0001627	Abnormal heart morphology
79813	EHMT1	HP:0001636	Tetralogy of Fallot
79813	EHMT1	HP:0000303	Mandibular prognathia
79813	EHMT1	HP:0001710	Conotruncal defect
79813	EHMT1	HP:0000463	Anteverted nares
79813	EHMT1	HP:0001762	Talipes equinovarus
79813	EHMT1	HP:0005469	Flat occiput
79813	EHMT1	HP:0000519	Developmental cataract
79813	EHMT1	HP:0000582	Upslanted palpebral fissure
79813	EHMT1	HP:0000540	Hypermetropia
79816	TLE6	HP:0000007	Autosomal recessive inheritance
79816	TLE6	HP:0008222	Female infertility
79823	CAMKMT	HP:0001250	Seizure
79823	CAMKMT	HP:0001252	Hypotonia
79823	CAMKMT	HP:0001263	Global developmental delay
79823	CAMKMT	HP:0000135	Hypogonadism
79823	CAMKMT	HP:0002007	Frontal bossing
79823	CAMKMT	HP:0200125	Mitochondrial respiratory chain defects
79823	CAMKMT	HP:0002342	Intellectual disability, moderate
79823	CAMKMT	HP:0001943	Hypoglycemia
79823	CAMKMT	HP:0000787	Nephrolithiasis
79823	CAMKMT	HP:0003131	Cystinuria
79823	CAMKMT	HP:0003128	Lactic acidosis
79823	CAMKMT	HP:0001558	Decreased fetal movement
79823	CAMKMT	HP:0001508	Failure to thrive
79823	CAMKMT	HP:0001510	Growth delay
79823	CAMKMT	HP:0001611	Hypernasal speech
79823	CAMKMT	HP:0002901	Hypocalcemia
79823	CAMKMT	HP:0000368	Low-set, posteriorly rotated ears
79823	CAMKMT	HP:0005280	Depressed nasal bridge
79823	CAMKMT	HP:0000527	Long eyelashes
79827	CLMP	HP:0002587	Projectile vomiting
79827	CLMP	HP:0002570	Steatorrhea
79827	CLMP	HP:0002566	Intestinal malrotation
79827	CLMP	HP:0000007	Autosomal recessive inheritance
79827	CLMP	HP:0002028	Chronic diarrhea
79827	CLMP	HP:0002013	Vomiting
79827	CLMP	HP:0030914	Abnormal peristalsis
79827	CLMP	HP:0100543	Cognitive impairment
79827	CLMP	HP:0100578	Lipoatrophy
79827	CLMP	HP:0003593	Infantile onset
79827	CLMP	HP:0003577	Congenital onset
79827	CLMP	HP:0100627	Displacement of the urethral meatus
79827	CLMP	HP:0001944	Dehydration
79827	CLMP	HP:0001942	Metabolic acidosis
79827	CLMP	HP:0001984	Intolerance to protein
79827	CLMP	HP:0004322	Short stature
79827	CLMP	HP:0030889	Congenital shortened small intestine
79827	CLMP	HP:0030897	Decreased intestinal transit time
79827	CLMP	HP:0003270	Abdominal distention
79827	CLMP	HP:0008070	Sparse hair
79827	CLMP	HP:0001508	Failure to thrive
79827	CLMP	HP:0005245	Intestinal hypoplasia
79827	CLMP	HP:0011100	Intestinal atresia
79840	NHEJ1	HP:0010976	B lymphocytopenia
79840	NHEJ1	HP:0002718	Recurrent bacterial infections
79840	NHEJ1	HP:0002721	Immunodeficiency
79840	NHEJ1	HP:0001903	Anemia
79840	NHEJ1	HP:0004313	Decreased circulating antibody level
79840	NHEJ1	HP:0004429	Recurrent viral infections
79840	NHEJ1	HP:0000252	Microcephaly
79840	NHEJ1	HP:0001510	Growth delay
79840	NHEJ1	HP:0000340	Sloping forehead
79840	NHEJ1	HP:0000320	Bird-like facies
79840	NHEJ1	HP:0002960	Autoimmunity
79840	NHEJ1	HP:0000444	Convex nasal ridge
79840	NHEJ1	HP:0000414	Bulbous nose
79840	NHEJ1	HP:0005403	T lymphocytopenia
79840	NHEJ1	HP:0001888	Lymphopenia
79840	NHEJ1	HP:0001873	Thrombocytopenia
79846	CFAP69	HP:0000007	Autosomal recessive inheritance
79846	CFAP69	HP:0032559	Short sperm flagella
79846	CFAP69	HP:0032560	Coiled sperm flagella
79846	CFAP69	HP:0032561	Microcephalic sperm head
79846	CFAP69	HP:0032562	Tapered sperm head
79846	CFAP69	HP:0012207	Reduced sperm motility
79848	CSPP1	HP:0001177	Preaxial hand polydactyly
79848	CSPP1	HP:0001156	Brachydactyly
79848	CSPP1	HP:0001162	Postaxial hand polydactyly
79848	CSPP1	HP:0001161	Hand polydactyly
79848	CSPP1	HP:0100954	Open operculum
79848	CSPP1	HP:0002435	Meningocele
79848	CSPP1	HP:0009932	Single naris
79848	CSPP1	HP:0009921	Duane anomaly
79848	CSPP1	HP:0002419	Molar tooth sign on MRI
79848	CSPP1	HP:0007291	Posterior fossa cyst
79848	CSPP1	HP:0001290	Generalized hypotonia
79848	CSPP1	HP:0001273	Abnormal corpus callosum morphology
79848	CSPP1	HP:0001288	Gait disturbance
79848	CSPP1	HP:0001250	Seizure
79848	CSPP1	HP:0001252	Hypotonia
79848	CSPP1	HP:0001251	Ataxia
79848	CSPP1	HP:0001249	Intellectual disability
79848	CSPP1	HP:0001263	Global developmental delay
79848	CSPP1	HP:0002558	Supernumerary nipple
79848	CSPP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
79848	CSPP1	HP:0002553	Highly arched eyebrow
79848	CSPP1	HP:0002516	Increased intracranial pressure
79848	CSPP1	HP:0000083	Renal insufficiency
79848	CSPP1	HP:0000068	Urethral atresia
79848	CSPP1	HP:0000062	Ambiguous genitalia
79848	CSPP1	HP:0000073	Ureteral duplication
79848	CSPP1	HP:0000037	Male pseudohermaphroditism
79848	CSPP1	HP:0000047	Hypospadias
79848	CSPP1	HP:0000028	Cryptorchidism
79848	CSPP1	HP:0008872	Feeding difficulties in infancy
79848	CSPP1	HP:0008797	Early ossification of capital femoral epiphyses
79848	CSPP1	HP:0001331	Absent septum pellucidum
79848	CSPP1	HP:0001344	Absent speech
79848	CSPP1	HP:0000007	Autosomal recessive inheritance
79848	CSPP1	HP:0000003	Multicystic kidney dysplasia
79848	CSPP1	HP:0001337	Tremor
79848	CSPP1	HP:0001305	Dandy-Walker malformation
79848	CSPP1	HP:0001320	Cerebellar vermis hypoplasia
79848	CSPP1	HP:0002650	Scoliosis
79848	CSPP1	HP:0001321	Cerebellar hypoplasia
79848	CSPP1	HP:0001317	Abnormal cerebellum morphology
79848	CSPP1	HP:0002612	Congenital hepatic fibrosis
79848	CSPP1	HP:0000175	Cleft palate
79848	CSPP1	HP:0012106	Rhizomelic leg shortening
79848	CSPP1	HP:0002793	Abnormal pattern of respiration
79848	CSPP1	HP:0002789	Tachypnea
79848	CSPP1	HP:0000110	Renal dysplasia
79848	CSPP1	HP:0000107	Renal cyst
79848	CSPP1	HP:0002020	Gastroesophageal reflux
79848	CSPP1	HP:0005989	Redundant neck skin
79848	CSPP1	HP:0002007	Frontal bossing
79848	CSPP1	HP:0003312	Abnormal form of the vertebral bodies
79848	CSPP1	HP:0004629	Small cervical vertebral bodies
79848	CSPP1	HP:0002089	Pulmonary hypoplasia
79848	CSPP1	HP:0002085	Occipital encephalocele
79848	CSPP1	HP:0002084	Encephalocele
79848	CSPP1	HP:0002094	Dyspnea
79848	CSPP1	HP:0002079	Hypoplasia of the corpus callosum
79848	CSPP1	HP:0010459	True hermaphroditism
79848	CSPP1	HP:0002119	Ventriculomegaly
79848	CSPP1	HP:0002134	Abnormal basal ganglia morphology
79848	CSPP1	HP:0002126	Polymicrogyria
79848	CSPP1	HP:0002100	Recurrent aspiration pneumonia
79848	CSPP1	HP:0002104	Apnea
79848	CSPP1	HP:0003411	Proximal femoral metaphyseal irregularity
79848	CSPP1	HP:0011933	Elongated superior cerebellar peduncle
79848	CSPP1	HP:0011927	Short digit
79848	CSPP1	HP:0002195	Dysgenesis of the cerebellar vermis
79848	CSPP1	HP:0004719	Hyperechogenic kidneys
79848	CSPP1	HP:0010579	Cone-shaped epiphysis
79848	CSPP1	HP:0002269	Abnormality of neuronal migration
79848	CSPP1	HP:0003577	Congenital onset
79848	CSPP1	HP:0002251	Aganglionic megacolon
79848	CSPP1	HP:0002205	Recurrent respiratory infections
79848	CSPP1	HP:0100732	Pancreatic fibrosis
79848	CSPP1	HP:0002280	Enlarged cisterna magna
79848	CSPP1	HP:0011968	Feeding difficulties
79848	CSPP1	HP:0007082	Dilated third ventricle
79848	CSPP1	HP:0002365	Hypoplasia of the brainstem
79848	CSPP1	HP:0002323	Anencephaly
79848	CSPP1	HP:0004991	Rhizomelic arm shortening
79848	CSPP1	HP:0008445	Cervical spinal canal stenosis
79848	CSPP1	HP:0006870	Lobar holoprosencephaly
79848	CSPP1	HP:0000639	Nystagmus
79848	CSPP1	HP:0000648	Optic atrophy
79848	CSPP1	HP:0000647	Sclerocornea
79848	CSPP1	HP:0000612	Iris coloboma
79848	CSPP1	HP:0010013	Abnormal 5th metacarpal morphology
79848	CSPP1	HP:0000657	Oculomotor apraxia
79848	CSPP1	HP:0004322	Short stature
79848	CSPP1	HP:0006956	Lateral ventricle dilatation
79848	CSPP1	HP:0030680	Abnormality of cardiovascular system morphology
79848	CSPP1	HP:0000803	Renal cortical cysts
79848	CSPP1	HP:0012795	Abnormal optic disc morphology
79848	CSPP1	HP:0000773	Short ribs
79848	CSPP1	HP:0004422	Biparietal narrowing
79848	CSPP1	HP:0003170	Abnormal acetabulum morphology
79848	CSPP1	HP:0000890	Long clavicles
79848	CSPP1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
79848	CSPP1	HP:0010295	Aplasia/Hypoplasia of the tongue
79848	CSPP1	HP:0100259	Postaxial polydactyly
79848	CSPP1	HP:0008053	Aplasia/Hypoplasia of the iris
79848	CSPP1	HP:0000286	Epicanthus
79848	CSPP1	HP:0000293	Full cheeks
79848	CSPP1	HP:0001591	Bell-shaped thorax
79848	CSPP1	HP:0000276	Long face
79848	CSPP1	HP:0000238	Hydrocephalus
79848	CSPP1	HP:0000252	Microcephaly
79848	CSPP1	HP:0000221	Furrowed tongue
79848	CSPP1	HP:0002876	Episodic tachypnea
79848	CSPP1	HP:0001562	Oligohydramnios
79848	CSPP1	HP:0000202	Orofacial cleft
79848	CSPP1	HP:0001508	Failure to thrive
79848	CSPP1	HP:0030048	Colpocephaly
79848	CSPP1	HP:0031528	Subretinal deposits
79848	CSPP1	HP:0000396	Overfolded helix
79848	CSPP1	HP:0005257	Thoracic hypoplasia
79848	CSPP1	HP:0006528	Chronic lung disease
79848	CSPP1	HP:0002910	Elevated hepatic transaminase
79848	CSPP1	HP:0006487	Bowing of the long bones
79848	CSPP1	HP:0001696	Situs inversus totalis
79848	CSPP1	HP:0000369	Low-set ears
79848	CSPP1	HP:0000368	Low-set, posteriorly rotated ears
79848	CSPP1	HP:0000340	Sloping forehead
79848	CSPP1	HP:0000347	Micrognathia
79848	CSPP1	HP:0000316	Hypertelorism
79848	CSPP1	HP:0006610	Wide intermamillary distance
79848	CSPP1	HP:0006668	Twelfth rib hypoplasia
79848	CSPP1	HP:0000407	Sensorineural hearing impairment
79848	CSPP1	HP:0001737	Pancreatic cysts
79848	CSPP1	HP:0005280	Depressed nasal bridge
79848	CSPP1	HP:0000486	Strabismus
79848	CSPP1	HP:0000482	Microcornea
79848	CSPP1	HP:0000488	Retinopathy
79848	CSPP1	HP:0000463	Anteverted nares
79848	CSPP1	HP:0000457	Depressed nasal ridge
79848	CSPP1	HP:0001746	Asplenia
79848	CSPP1	HP:0001747	Accessory spleen
79848	CSPP1	HP:0000426	Prominent nasal bridge
79848	CSPP1	HP:0006706	Cystic liver disease
79848	CSPP1	HP:0006711	Aplasia/Hypoplasia involving bones of the thorax
79848	CSPP1	HP:0000518	Cataract
79848	CSPP1	HP:0000528	Anophthalmia
79848	CSPP1	HP:0001829	Foot polydactyly
79848	CSPP1	HP:0000508	Ptosis
79848	CSPP1	HP:0001830	Postaxial foot polydactyly
79848	CSPP1	HP:0000556	Retinal dystrophy
79848	CSPP1	HP:0000572	Visual loss
79848	CSPP1	HP:0000568	Microphthalmia
79848	CSPP1	HP:0000532	Abnormal chorioretinal morphology
79848	CSPP1	HP:0001883	Talipes
79848	CSPP1	HP:0000545	Myopia
79853	TM4SF20	HP:0002463	Language impairment
79853	TM4SF20	HP:0001263	Global developmental delay
79853	TM4SF20	HP:0003829	Typified by incomplete penetrance
79853	TM4SF20	HP:0000006	Autosomal dominant inheritance
79853	TM4SF20	HP:0000750	Delayed speech and language development
79853	TM4SF20	HP:0000729	Autistic behavior
79853	TM4SF20	HP:0030890	Hyperintensity of cerebral white matter on MRI
79867	TCTN2	HP:0001177	Preaxial hand polydactyly
79867	TCTN2	HP:0001162	Postaxial hand polydactyly
79867	TCTN2	HP:0001161	Hand polydactyly
79867	TCTN2	HP:0001288	Gait disturbance
79867	TCTN2	HP:0001250	Seizure
79867	TCTN2	HP:0001252	Hypotonia
79867	TCTN2	HP:0001251	Ataxia
79867	TCTN2	HP:0001249	Intellectual disability
79867	TCTN2	HP:0001263	Global developmental delay
79867	TCTN2	HP:0001257	Spasticity
79867	TCTN2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
79867	TCTN2	HP:0002553	Highly arched eyebrow
79867	TCTN2	HP:0000068	Urethral atresia
79867	TCTN2	HP:0000062	Ambiguous genitalia
79867	TCTN2	HP:0000073	Ureteral duplication
79867	TCTN2	HP:0000037	Male pseudohermaphroditism
79867	TCTN2	HP:0001347	Hyperreflexia
79867	TCTN2	HP:0000028	Cryptorchidism
79867	TCTN2	HP:0008872	Feeding difficulties in infancy
79867	TCTN2	HP:0001344	Absent speech
79867	TCTN2	HP:0000007	Autosomal recessive inheritance
79867	TCTN2	HP:0000003	Multicystic kidney dysplasia
79867	TCTN2	HP:0001337	Tremor
79867	TCTN2	HP:0001310	Dysmetria
79867	TCTN2	HP:0001305	Dandy-Walker malformation
79867	TCTN2	HP:0001302	Pachygyria
79867	TCTN2	HP:0001320	Cerebellar vermis hypoplasia
79867	TCTN2	HP:0002650	Scoliosis
79867	TCTN2	HP:0001321	Cerebellar hypoplasia
79867	TCTN2	HP:0002612	Congenital hepatic fibrosis
79867	TCTN2	HP:0000175	Cleft palate
79867	TCTN2	HP:0000113	Polycystic kidney dysplasia
79867	TCTN2	HP:0002793	Abnormal pattern of respiration
79867	TCTN2	HP:0000105	Enlarged kidney
79867	TCTN2	HP:0003312	Abnormal form of the vertebral bodies
79867	TCTN2	HP:0002085	Occipital encephalocele
79867	TCTN2	HP:0002084	Encephalocele
79867	TCTN2	HP:0010442	Polydactyly
79867	TCTN2	HP:0010459	True hermaphroditism
79867	TCTN2	HP:0002126	Polymicrogyria
79867	TCTN2	HP:0002104	Apnea
79867	TCTN2	HP:0004719	Hyperechogenic kidneys
79867	TCTN2	HP:0003593	Infantile onset
79867	TCTN2	HP:0002269	Abnormality of neuronal migration
79867	TCTN2	HP:0003577	Congenital onset
79867	TCTN2	HP:0002251	Aganglionic megacolon
79867	TCTN2	HP:0100732	Pancreatic fibrosis
79867	TCTN2	HP:0002323	Anencephaly
79867	TCTN2	HP:0006870	Lobar holoprosencephaly
79867	TCTN2	HP:0000639	Nystagmus
79867	TCTN2	HP:0000648	Optic atrophy
79867	TCTN2	HP:0000647	Sclerocornea
79867	TCTN2	HP:0000612	Iris coloboma
79867	TCTN2	HP:0000657	Oculomotor apraxia
79867	TCTN2	HP:0030680	Abnormality of cardiovascular system morphology
79867	TCTN2	HP:0000774	Narrow chest
79867	TCTN2	HP:0004422	Biparietal narrowing
79867	TCTN2	HP:0003196	Short nose
79867	TCTN2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
79867	TCTN2	HP:0010295	Aplasia/Hypoplasia of the tongue
79867	TCTN2	HP:0003270	Abdominal distention
79867	TCTN2	HP:0008053	Aplasia/Hypoplasia of the iris
79867	TCTN2	HP:0000293	Full cheeks
79867	TCTN2	HP:0000276	Long face
79867	TCTN2	HP:0000238	Hydrocephalus
79867	TCTN2	HP:0000252	Microcephaly
79867	TCTN2	HP:0000221	Furrowed tongue
79867	TCTN2	HP:0002876	Episodic tachypnea
79867	TCTN2	HP:0001562	Oligohydramnios
79867	TCTN2	HP:0000202	Orofacial cleft
79867	TCTN2	HP:0000204	Cleft upper lip
79867	TCTN2	HP:0006487	Bowing of the long bones
79867	TCTN2	HP:0001696	Situs inversus totalis
79867	TCTN2	HP:0001698	Pericardial effusion
79867	TCTN2	HP:0000369	Low-set ears
79867	TCTN2	HP:0000368	Low-set, posteriorly rotated ears
79867	TCTN2	HP:0000340	Sloping forehead
79867	TCTN2	HP:0000337	Broad forehead
79867	TCTN2	HP:0000347	Micrognathia
79867	TCTN2	HP:0000316	Hypertelorism
79867	TCTN2	HP:0001737	Pancreatic cysts
79867	TCTN2	HP:0000486	Strabismus
79867	TCTN2	HP:0000482	Microcornea
79867	TCTN2	HP:0000463	Anteverted nares
79867	TCTN2	HP:0000457	Depressed nasal ridge
79867	TCTN2	HP:0000470	Short neck
79867	TCTN2	HP:0001746	Asplenia
79867	TCTN2	HP:0001747	Accessory spleen
79867	TCTN2	HP:0001762	Talipes equinovarus
79867	TCTN2	HP:0000426	Prominent nasal bridge
79867	TCTN2	HP:0025700	Anhydramnios
79867	TCTN2	HP:0006706	Cystic liver disease
79867	TCTN2	HP:0000518	Cataract
79867	TCTN2	HP:0000528	Anophthalmia
79867	TCTN2	HP:0001829	Foot polydactyly
79867	TCTN2	HP:0000508	Ptosis
79867	TCTN2	HP:0001830	Postaxial foot polydactyly
79867	TCTN2	HP:0000568	Microphthalmia
79867	TCTN2	HP:0000540	Hypermetropia
79867	TCTN2	HP:0000532	Abnormal chorioretinal morphology
79867	TCTN2	HP:0001883	Talipes
79868	ALG13	HP:0001181	Adducted thumb
79868	ALG13	HP:0007256	Abnormal pyramidal sign
79868	ALG13	HP:0010864	Intellectual disability, severe
79868	ALG13	HP:0002421	Poor head control
79868	ALG13	HP:0001290	Generalized hypotonia
79868	ALG13	HP:0001250	Seizure
79868	ALG13	HP:0001252	Hypotonia
79868	ALG13	HP:0001263	Global developmental delay
79868	ALG13	HP:0002521	Hypsarrhythmia
79868	ALG13	HP:0001371	Flexion contracture
79868	ALG13	HP:0002650	Scoliosis
79868	ALG13	HP:0001417	X-linked inheritance
79868	ALG13	HP:0002719	Recurrent infections
79868	ALG13	HP:0100543	Cognitive impairment
79868	ALG13	HP:0002071	Abnormality of extrapyramidal motor function
79868	ALG13	HP:0002059	Cerebral atrophy
79868	ALG13	HP:0002188	Delayed CNS myelination
79868	ALG13	HP:0003593	Infantile onset
79868	ALG13	HP:0002240	Hepatomegaly
79868	ALG13	HP:0002283	Global brain atrophy
79868	ALG13	HP:0011968	Feeding difficulties
79868	ALG13	HP:0002360	Sleep disturbance
79868	ALG13	HP:0003645	Prolonged partial thromboplastin time
79868	ALG13	HP:0010819	Atonic seizure
79868	ALG13	HP:0200055	Small hand
79868	ALG13	HP:0003642	Type I transferrin isoform profile
79868	ALG13	HP:0002312	Clumsiness
79868	ALG13	HP:0000639	Nystagmus
79868	ALG13	HP:0000648	Optic atrophy
79868	ALG13	HP:0000666	Horizontal nystagmus
79868	ALG13	HP:0004325	Decreased body weight
79868	ALG13	HP:0000750	Delayed speech and language development
79868	ALG13	HP:0000742	Self-mutilation
79868	ALG13	HP:0000717	Autism
79868	ALG13	HP:0000817	Reduced eye contact
79868	ALG13	HP:0000280	Coarse facial features
79868	ALG13	HP:0000256	Macrocephaly
79868	ALG13	HP:0000238	Hydrocephalus
79868	ALG13	HP:0000252	Microcephaly
79868	ALG13	HP:0030047	Abnormal lateral ventricle morphology
79868	ALG13	HP:0000369	Low-set ears
79868	ALG13	HP:0000343	Long philtrum
79868	ALG13	HP:0032792	Tonic seizure
79868	ALG13	HP:0032794	Myoclonic seizure
79868	ALG13	HP:0000316	Hypertelorism
79868	ALG13	HP:0000331	Short chin
79868	ALG13	HP:0000308	Microretrognathia
79868	ALG13	HP:0012469	Infantile spasms
79868	ALG13	HP:0000463	Anteverted nares
79868	ALG13	HP:0012443	Abnormality of brain morphology
79868	ALG13	HP:0001892	Abnormal bleeding
79875	THSD4	HP:0001369	Arthritis
79875	THSD4	HP:0000006	Autosomal dominant inheritance
79875	THSD4	HP:0002650	Scoliosis
79875	THSD4	HP:0002616	Aortic root aneurysm
79875	THSD4	HP:0002108	Spontaneous pneumothorax
79875	THSD4	HP:0003596	Middle age onset
79875	THSD4	HP:0003584	Late onset
79875	THSD4	HP:0004970	Ascending tubular aorta aneurysm
79875	THSD4	HP:0004933	Ascending aortic dissection
79875	THSD4	HP:0000767	Pectus excavatum
79875	THSD4	HP:0011462	Young adult onset
79875	THSD4	HP:0000218	High palate
79875	THSD4	HP:0001519	Disproportionate tall stature
79875	THSD4	HP:0006510	Chronic pulmonary obstruction
79875	THSD4	HP:0001647	Bicuspid aortic valve
79875	THSD4	HP:0000316	Hypertelorism
79875	THSD4	HP:0001659	Aortic regurgitation
79876	UBA5	HP:0010864	Intellectual disability, severe
79876	UBA5	HP:0002421	Poor head control
79876	UBA5	HP:0001298	Encephalopathy
79876	UBA5	HP:0001290	Generalized hypotonia
79876	UBA5	HP:0001272	Cerebellar atrophy
79876	UBA5	HP:0001273	Abnormal corpus callosum morphology
79876	UBA5	HP:0001268	Mental deterioration
79876	UBA5	HP:0001250	Seizure
79876	UBA5	HP:0001251	Ataxia
79876	UBA5	HP:0001249	Intellectual disability
79876	UBA5	HP:0001265	Hyporeflexia
79876	UBA5	HP:0001260	Dysarthria
79876	UBA5	HP:0001263	Global developmental delay
79876	UBA5	HP:0001257	Spasticity
79876	UBA5	HP:0002521	Hypsarrhythmia
79876	UBA5	HP:0002509	Limb hypertonia
79876	UBA5	HP:0001332	Dystonia
79876	UBA5	HP:0001344	Absent speech
79876	UBA5	HP:0000007	Autosomal recessive inheritance
79876	UBA5	HP:0001337	Tremor
79876	UBA5	HP:0001336	Myoclonus
79876	UBA5	HP:0001315	Reduced tendon reflexes
79876	UBA5	HP:0002020	Gastroesophageal reflux
79876	UBA5	HP:0002066	Gait ataxia
79876	UBA5	HP:0002063	Rigidity
79876	UBA5	HP:0002064	Spastic gait
79876	UBA5	HP:0002079	Hypoplasia of the corpus callosum
79876	UBA5	HP:0002070	Limb ataxia
79876	UBA5	HP:0002059	Cerebral atrophy
79876	UBA5	HP:0002133	Status epilepticus
79876	UBA5	HP:0100710	Impulsivity
79876	UBA5	HP:0007018	Attention deficit hyperactivity disorder
79876	UBA5	HP:0011968	Feeding difficulties
79876	UBA5	HP:0002376	Developmental regression
79876	UBA5	HP:0003676	Progressive
79876	UBA5	HP:0002355	Difficulty walking
79876	UBA5	HP:0002317	Unsteady gait
79876	UBA5	HP:0010844	EEG with multifocal slow activity
79876	UBA5	HP:0100660	Dyskinesia
79876	UBA5	HP:0002305	Athetosis
79876	UBA5	HP:0003621	Juvenile onset
79876	UBA5	HP:0000639	Nystagmus
79876	UBA5	HP:0000648	Optic atrophy
79876	UBA5	HP:0000668	Hypodontia
79876	UBA5	HP:0000666	Horizontal nystagmus
79876	UBA5	HP:0004322	Short stature
79876	UBA5	HP:0004305	Involuntary movements
79876	UBA5	HP:0000737	Irritability
79876	UBA5	HP:0000750	Delayed speech and language development
79876	UBA5	HP:0000717	Autism
79876	UBA5	HP:0000708	Atypical behavior
79876	UBA5	HP:0011463	Childhood onset
79876	UBA5	HP:0011443	Abnormality of coordination
79876	UBA5	HP:0000298	Mask-like facies
79876	UBA5	HP:0000252	Microcephaly
79876	UBA5	HP:0001558	Decreased fetal movement
79876	UBA5	HP:0001508	Failure to thrive
79876	UBA5	HP:0000348	High forehead
79876	UBA5	HP:0000494	Downslanted palpebral fissures
79876	UBA5	HP:0012448	Delayed myelination
79876	UBA5	HP:0012444	Brain atrophy
79876	UBA5	HP:0012447	Abnormal myelination
79876	UBA5	HP:0005484	Secondary microcephaly
79876	UBA5	HP:0000518	Cataract
79876	UBA5	HP:0000508	Ptosis
79876	UBA5	HP:0000504	Abnormality of vision
79876	UBA5	HP:0012547	Abnormal involuntary eye movements
79876	UBA5	HP:0000546	Retinal degeneration
79879	CCDC134	HP:0000007	Autosomal recessive inheritance
79879	CCDC134	HP:0002645	Wormian bones
79879	CCDC134	HP:0002757	Recurrent fractures
79879	CCDC134	HP:0002753	Thin bony cortex
79879	CCDC134	HP:0100529	Abnormal blood phosphate concentration
79879	CCDC134	HP:0004322	Short stature
79879	CCDC134	HP:0004363	Abnormal circulating calcium concentration
79879	CCDC134	HP:0031936	Delayed ability to walk
79879	CCDC134	HP:0004349	Reduced bone mineral density
79879	CCDC134	HP:0000703	Dentinogenesis imperfecta
79879	CCDC134	HP:0011463	Childhood onset
79879	CCDC134	HP:0011461	Fetal onset
79879	CCDC134	HP:0003100	Slender long bone
79879	CCDC134	HP:0005877	Multiple small vertebral fractures
79879	CCDC134	HP:0005864	Pseudoarthrosis
79879	CCDC134	HP:0005855	Multiple prenatal fractures
79879	CCDC134	HP:0001511	Intrauterine growth retardation
79879	CCDC134	HP:0006487	Bowing of the long bones
79879	CCDC134	HP:0031429	Decreased circulating osteocalcin level
79879	CCDC134	HP:0000365	Hearing impairment
79882	ZC3H14	HP:0001249	Intellectual disability
79882	ZC3H14	HP:0000007	Autosomal recessive inheritance
79902	NUP85	HP:0003774	Stage 5 chronic kidney disease
79902	NUP85	HP:0002586	Peritonitis
79902	NUP85	HP:0001249	Intellectual disability
79902	NUP85	HP:0000097	Focal segmental glomerulosclerosis
79902	NUP85	HP:0000093	Proteinuria
79902	NUP85	HP:0001385	Hip dysplasia
79902	NUP85	HP:0001363	Craniosynostosis
79902	NUP85	HP:0007495	Prematurely aged appearance
79902	NUP85	HP:0000007	Autosomal recessive inheritance
79902	NUP85	HP:0002650	Scoliosis
79902	NUP85	HP:0002750	Delayed skeletal maturation
79902	NUP85	HP:0002027	Abdominal pain
79902	NUP85	HP:0100539	Periorbital edema
79902	NUP85	HP:0100543	Cognitive impairment
79902	NUP85	HP:0010579	Cone-shaped epiphysis
79902	NUP85	HP:0002209	Sparse scalp hair
79902	NUP85	HP:0011947	Respiratory tract infection
79902	NUP85	HP:0003676	Progressive
79902	NUP85	HP:0002315	Headache
79902	NUP85	HP:0009804	Tooth agenesis
79902	NUP85	HP:0003621	Juvenile onset
79902	NUP85	HP:0004209	Clinodactyly of the 5th finger
79902	NUP85	HP:0012622	Chronic kidney disease
79902	NUP85	HP:0001967	Diffuse mesangial sclerosis
79902	NUP85	HP:0001945	Fever
79902	NUP85	HP:0000682	Abnormal dental enamel morphology
79902	NUP85	HP:0011342	Mild global developmental delay
79902	NUP85	HP:0004322	Short stature
79902	NUP85	HP:0004326	Cachexia
79902	NUP85	HP:0003073	Hypoalbuminemia
79902	NUP85	HP:0005692	Joint hyperflexibility
79902	NUP85	HP:0000737	Irritability
79902	NUP85	HP:0000707	Abnormality of the nervous system
79902	NUP85	HP:0011463	Childhood onset
79902	NUP85	HP:0000969	Edema
79902	NUP85	HP:0000275	Narrow face
79902	NUP85	HP:0000252	Microcephaly
79902	NUP85	HP:0001511	Intrauterine growth retardation
79902	NUP85	HP:0031504	Foamy urine
79902	NUP85	HP:0000387	Absent earlobe
79902	NUP85	HP:0002907	Microscopic hematuria
79902	NUP85	HP:0000363	Abnormal earlobe morphology
79902	NUP85	HP:0000347	Micrognathia
79902	NUP85	HP:0000494	Downslanted palpebral fissures
79902	NUP85	HP:0000444	Convex nasal ridge
79902	NUP85	HP:0001852	Sandal gap
79902	NUP85	HP:0000501	Glaucoma
79902	NUP85	HP:0012588	Steroid-resistant nephrotic syndrome
79902	NUP85	HP:0012579	Minimal change glomerulonephritis
79912	PYROXD1	HP:0003798	Nemaline bodies
79912	PYROXD1	HP:0003701	Proximal muscle weakness
79912	PYROXD1	HP:0003700	Generalized amyotrophy
79912	PYROXD1	HP:0001284	Areflexia
79912	PYROXD1	HP:0001265	Hyporeflexia
79912	PYROXD1	HP:0000098	Tall stature
79912	PYROXD1	HP:0001382	Joint hypermobility
79912	PYROXD1	HP:0001324	Muscle weakness
79912	PYROXD1	HP:0000007	Autosomal recessive inheritance
79912	PYROXD1	HP:0002650	Scoliosis
79912	PYROXD1	HP:0001319	Neonatal hypotonia
79912	PYROXD1	HP:0002783	Recurrent lower respiratory tract infections
79912	PYROXD1	HP:0002792	Reduced vital capacity
79912	PYROXD1	HP:0002015	Dysphagia
79912	PYROXD1	HP:0003306	Spinal rigidity
79912	PYROXD1	HP:0002091	Restrictive ventilatory defect
79912	PYROXD1	HP:0003391	Gowers sign
79912	PYROXD1	HP:0002058	Myopathic facies
79912	PYROXD1	HP:0003388	Easy fatigability
79912	PYROXD1	HP:0003593	Infantile onset
79912	PYROXD1	HP:0003577	Congenital onset
79912	PYROXD1	HP:0003551	Difficulty climbing stairs
79912	PYROXD1	HP:0003691	Scapular winging
79912	PYROXD1	HP:0003690	Limb muscle weakness
79912	PYROXD1	HP:0002359	Frequent falls
79912	PYROXD1	HP:0003687	Centrally nucleated skeletal muscle fibers
79912	PYROXD1	HP:0003677	Slowly progressive
79912	PYROXD1	HP:0003621	Juvenile onset
79912	PYROXD1	HP:0020152	Distal joint laxity
79912	PYROXD1	HP:0009046	Difficulty running
79912	PYROXD1	HP:0000689	Dental malocclusion
79912	PYROXD1	HP:0000767	Pectus excavatum
79912	PYROXD1	HP:0009183	Joint contracture of the 5th finger
79912	PYROXD1	HP:0011463	Childhood onset
79912	PYROXD1	HP:0003236	Elevated circulating creatine kinase concentration
79912	PYROXD1	HP:0000276	Long face
79912	PYROXD1	HP:0000218	High palate
79912	PYROXD1	HP:0005216	Impaired mastication
79912	PYROXD1	HP:0000347	Micrognathia
79912	PYROXD1	HP:0001653	Mitral regurgitation
79912	PYROXD1	HP:0030230	Central core regions in muscle fibers
79912	PYROXD1	HP:0000467	Neck muscle weakness
79912	PYROXD1	HP:0001771	Achilles tendon contracture
79912	PYROXD1	HP:0001763	Pes planus
79912	PYROXD1	HP:0001761	Pes cavus
79912	PYROXD1	HP:0000508	Ptosis
79912	PYROXD1	HP:0000577	Exotropia
79925	SPEF2	HP:0025177	Peribronchovascular interstitial thickening
79925	SPEF2	HP:0033525	Absent sperm axoneme central pair complex
79925	SPEF2	HP:0002566	Intestinal malrotation
79925	SPEF2	HP:0001217	Clubbing
79925	SPEF2	HP:0000007	Autosomal recessive inheritance
79925	SPEF2	HP:0002643	Neonatal respiratory distress
79925	SPEF2	HP:0000119	Abnormality of the genitourinary system
79925	SPEF2	HP:0032543	Lithoptysis
79925	SPEF2	HP:0032558	Absent sperm flagella
79925	SPEF2	HP:0032560	Coiled sperm flagella
79925	SPEF2	HP:0031245	Productive cough
79925	SPEF2	HP:0002011	Morphological central nervous system abnormality
79925	SPEF2	HP:0100582	Nasal polyposis
79925	SPEF2	HP:0002119	Ventriculomegaly
79925	SPEF2	HP:0002110	Bronchiectasis
79925	SPEF2	HP:0008222	Female infertility
79925	SPEF2	HP:0002257	Chronic rhinitis
79925	SPEF2	HP:0100750	Atelectasis
79925	SPEF2	HP:0032016	Abnormal sputum
79925	SPEF2	HP:0011947	Respiratory tract infection
79925	SPEF2	HP:0010772	Anomalous pulmonary venous return
79925	SPEF2	HP:0030680	Abnormality of cardiovascular system morphology
79925	SPEF2	HP:0000750	Delayed speech and language development
79925	SPEF2	HP:0000924	Abnormality of the skeletal system
79925	SPEF2	HP:0011539	Atrial situs ambiguous
79925	SPEF2	HP:0011535	Abnormal atrial arrangement
79925	SPEF2	HP:0030828	Wheezing
79925	SPEF2	HP:0003251	Male infertility
79925	SPEF2	HP:0011617	Pulmonary situs ambiguus
79925	SPEF2	HP:0025576	Abnormal inferior vena cava morphology
79925	SPEF2	HP:0000238	Hydrocephalus
79925	SPEF2	HP:0012206	Abnormal sperm motility
79925	SPEF2	HP:0012207	Reduced sperm motility
79925	SPEF2	HP:0002878	Respiratory failure
79925	SPEF2	HP:0000389	Chronic otitis media
79925	SPEF2	HP:0006536	Airway obstruction
79925	SPEF2	HP:0001696	Situs inversus totalis
79925	SPEF2	HP:0000365	Hearing impairment
79925	SPEF2	HP:0001669	Transposition of the great arteries
79925	SPEF2	HP:0031456	Ectopic pregnancy
79925	SPEF2	HP:0001627	Abnormal heart morphology
79925	SPEF2	HP:0005301	Persistent left superior vena cava
79925	SPEF2	HP:0000403	Recurrent otitis media
79925	SPEF2	HP:0000405	Conductive hearing impairment
79925	SPEF2	HP:0001719	Double outlet right ventricle
79925	SPEF2	HP:0011109	Chronic sinusitis
79925	SPEF2	HP:0001746	Asplenia
79925	SPEF2	HP:0001748	Polysplenia
79925	SPEF2	HP:0001742	Nasal congestion
79925	SPEF2	HP:0005425	Recurrent sinopulmonary infections
79925	SPEF2	HP:0011274	Recurrent mycobacterial infections
79925	SPEF2	HP:0000510	Rod-cone dystrophy
79932	KIAA0319L	HP:0100958	Narrow foramen obturatorium
79932	KIAA0319L	HP:0002020	Gastroesophageal reflux
79932	KIAA0319L	HP:0002017	Nausea and vomiting
79932	KIAA0319L	HP:0002015	Dysphagia
79932	KIAA0319L	HP:0002092	Pulmonary arterial hypertension
79932	KIAA0319L	HP:0100585	Telangiectasia of the skin
79932	KIAA0319L	HP:0100579	Mucosal telangiectasiae
79932	KIAA0319L	HP:0009473	Joint contracture of the hand
79932	KIAA0319L	HP:0002206	Pulmonary fibrosis
79932	KIAA0319L	HP:0008366	Foot joint contracture
79932	KIAA0319L	HP:0001053	Hypopigmented skin patches
79932	KIAA0319L	HP:0001000	Abnormality of skin pigmentation
79932	KIAA0319L	HP:0200042	Skin ulcer
79932	KIAA0319L	HP:0000951	Abnormality of the skin
79932	KIAA0319L	HP:0002960	Autoimmunity
79934	COQ8B	HP:0003774	Stage 5 chronic kidney disease
79934	COQ8B	HP:0002586	Peritonitis
79934	COQ8B	HP:0000097	Focal segmental glomerulosclerosis
79934	COQ8B	HP:0000096	Glomerular sclerosis
79934	COQ8B	HP:0000093	Proteinuria
79934	COQ8B	HP:0000007	Autosomal recessive inheritance
79934	COQ8B	HP:0002027	Abdominal pain
79934	COQ8B	HP:0100539	Periorbital edema
79934	COQ8B	HP:0003593	Infantile onset
79934	COQ8B	HP:0011947	Respiratory tract infection
79934	COQ8B	HP:0003676	Progressive
79934	COQ8B	HP:0002315	Headache
79934	COQ8B	HP:0003621	Juvenile onset
79934	COQ8B	HP:0012622	Chronic kidney disease
79934	COQ8B	HP:0001967	Diffuse mesangial sclerosis
79934	COQ8B	HP:0001945	Fever
79934	COQ8B	HP:0003073	Hypoalbuminemia
79934	COQ8B	HP:0000737	Irritability
79934	COQ8B	HP:0000707	Abnormality of the nervous system
79934	COQ8B	HP:0011463	Childhood onset
79934	COQ8B	HP:0011462	Young adult onset
79934	COQ8B	HP:0000969	Edema
79934	COQ8B	HP:0031504	Foamy urine
79934	COQ8B	HP:0012588	Steroid-resistant nephrotic syndrome
79934	COQ8B	HP:0012579	Minimal change glomerulonephritis
79944	L2HGDH	HP:0007256	Abnormal pyramidal sign
79944	L2HGDH	HP:0007258	Severe demyelination of the white matter
79944	L2HGDH	HP:0010864	Intellectual disability, severe
79944	L2HGDH	HP:0001272	Cerebellar atrophy
79944	L2HGDH	HP:0001285	Spastic tetraparesis
79944	L2HGDH	HP:0001250	Seizure
79944	L2HGDH	HP:0001252	Hypotonia
79944	L2HGDH	HP:0001251	Ataxia
79944	L2HGDH	HP:0001249	Intellectual disability
79944	L2HGDH	HP:0007371	Corpus callosum atrophy
79944	L2HGDH	HP:0007360	Aplasia/Hypoplasia of the cerebellum
79944	L2HGDH	HP:0000007	Autosomal recessive inheritance
79944	L2HGDH	HP:0002062	Morphological abnormality of the pyramidal tract
79944	L2HGDH	HP:0002071	Abnormality of extrapyramidal motor function
79944	L2HGDH	HP:0002171	Gliosis
79944	L2HGDH	HP:0003593	Infantile onset
79944	L2HGDH	HP:0002283	Global brain atrophy
79944	L2HGDH	HP:0002383	Infectious encephalitis
79944	L2HGDH	HP:0002381	Aphasia
79944	L2HGDH	HP:0002376	Developmental regression
79944	L2HGDH	HP:0002352	Leukoencephalopathy
79944	L2HGDH	HP:0006887	Intellectual disability, progressive
79944	L2HGDH	HP:0000639	Nystagmus
79944	L2HGDH	HP:0000648	Optic atrophy
79944	L2HGDH	HP:0004375	Neoplasm of the nervous system
79944	L2HGDH	HP:0000708	Atypical behavior
79944	L2HGDH	HP:0040147	L-2-hydroxyglutaric acidemia
79944	L2HGDH	HP:0040144	L-2-hydroxyglutaric aciduria
79944	L2HGDH	HP:0000256	Macrocephaly
79944	L2HGDH	HP:0000365	Hearing impairment
79944	L2HGDH	HP:0000486	Strabismus
79947	DHDDS	HP:0001133	Constriction of peripheral visual field
79947	DHDDS	HP:0002421	Poor head control
79947	DHDDS	HP:0001298	Encephalopathy
79947	DHDDS	HP:0001290	Generalized hypotonia
79947	DHDDS	HP:0001273	Abnormal corpus callosum morphology
79947	DHDDS	HP:0001268	Mental deterioration
79947	DHDDS	HP:0001250	Seizure
79947	DHDDS	HP:0001251	Ataxia
79947	DHDDS	HP:0001249	Intellectual disability
79947	DHDDS	HP:0001265	Hyporeflexia
79947	DHDDS	HP:0001263	Global developmental delay
79947	DHDDS	HP:0001257	Spasticity
79947	DHDDS	HP:0008736	Hypoplasia of penis
79947	DHDDS	HP:0002521	Hypsarrhythmia
79947	DHDDS	HP:0003828	Variable expressivity
79947	DHDDS	HP:0002509	Limb hypertonia
79947	DHDDS	HP:0000083	Renal insufficiency
79947	DHDDS	HP:0000054	Micropenis
79947	DHDDS	HP:0001347	Hyperreflexia
79947	DHDDS	HP:0000035	Abnormal testis morphology
79947	DHDDS	HP:0000028	Cryptorchidism
79947	DHDDS	HP:0001332	Dystonia
79947	DHDDS	HP:0000007	Autosomal recessive inheritance
79947	DHDDS	HP:0001337	Tremor
79947	DHDDS	HP:0000006	Autosomal dominant inheritance
79947	DHDDS	HP:0001336	Myoclonus
79947	DHDDS	HP:0001315	Reduced tendon reflexes
79947	DHDDS	HP:0000135	Hypogonadism
79947	DHDDS	HP:0007675	Progressive night blindness
79947	DHDDS	HP:0007663	Reduced visual acuity
79947	DHDDS	HP:0008936	Axial hypotonia
79947	DHDDS	HP:0002020	Gastroesophageal reflux
79947	DHDDS	HP:0005978	Type II diabetes mellitus
79947	DHDDS	HP:0002069	Bilateral tonic-clonic seizure
79947	DHDDS	HP:0002067	Bradykinesia
79947	DHDDS	HP:0002063	Rigidity
79947	DHDDS	HP:0002059	Cerebral atrophy
79947	DHDDS	HP:0002123	Generalized myoclonic seizure
79947	DHDDS	HP:0002133	Status epilepticus
79947	DHDDS	HP:0002240	Hepatomegaly
79947	DHDDS	HP:0100710	Impulsivity
79947	DHDDS	HP:0200134	Epileptic encephalopathy
79947	DHDDS	HP:0007018	Attention deficit hyperactivity disorder
79947	DHDDS	HP:0011968	Feeding difficulties
79947	DHDDS	HP:0007099	Chiari type I malformation
79947	DHDDS	HP:0002376	Developmental regression
79947	DHDDS	HP:0002355	Difficulty walking
79947	DHDDS	HP:0002353	EEG abnormality
79947	DHDDS	HP:0002317	Unsteady gait
79947	DHDDS	HP:0010844	EEG with multifocal slow activity
79947	DHDDS	HP:0100660	Dyskinesia
79947	DHDDS	HP:0003621	Juvenile onset
79947	DHDDS	HP:0000639	Nystagmus
79947	DHDDS	HP:0000648	Optic atrophy
79947	DHDDS	HP:0000618	Blindness
79947	DHDDS	HP:0000613	Photophobia
79947	DHDDS	HP:0000602	Ophthalmoplegia
79947	DHDDS	HP:0000662	Nyctalopia
79947	DHDDS	HP:0000668	Hypodontia
79947	DHDDS	HP:0004322	Short stature
79947	DHDDS	HP:0004305	Involuntary movements
79947	DHDDS	HP:0000750	Delayed speech and language development
79947	DHDDS	HP:0000717	Autism
79947	DHDDS	HP:0000708	Atypical behavior
79947	DHDDS	HP:0011443	Abnormality of coordination
79947	DHDDS	HP:0011505	Cystoid macular edema
79947	DHDDS	HP:0000842	Hyperinsulinemia
79947	DHDDS	HP:0000987	Atypical scarring of skin
79947	DHDDS	HP:0008046	Abnormal retinal vascular morphology
79947	DHDDS	HP:0007703	Abnormality of retinal pigmentation
79947	DHDDS	HP:0000252	Microcephaly
79947	DHDDS	HP:0001558	Decreased fetal movement
79947	DHDDS	HP:0001508	Failure to thrive
79947	DHDDS	HP:0001511	Intrauterine growth retardation
79947	DHDDS	HP:0001513	Obesity
79947	DHDDS	HP:0002910	Elevated hepatic transaminase
79947	DHDDS	HP:0000348	High forehead
79947	DHDDS	HP:0011150	Myoclonic absence seizure
79947	DHDDS	HP:0000407	Sensorineural hearing impairment
79947	DHDDS	HP:0000405	Conductive hearing impairment
79947	DHDDS	HP:0000494	Downslanted palpebral fissures
79947	DHDDS	HP:0000463	Anteverted nares
79947	DHDDS	HP:0012444	Brain atrophy
79947	DHDDS	HP:0012447	Abnormal myelination
79947	DHDDS	HP:0000431	Wide nasal bridge
79947	DHDDS	HP:0000518	Cataract
79947	DHDDS	HP:0000510	Rod-cone dystrophy
79947	DHDDS	HP:0000512	Abnormal electroretinogram
79947	DHDDS	HP:0000508	Ptosis
79947	DHDDS	HP:0000505	Visual impairment
79947	DHDDS	HP:0000504	Abnormality of vision
79947	DHDDS	HP:0000501	Glaucoma
79947	DHDDS	HP:0000563	Keratoconus
79947	DHDDS	HP:0012547	Abnormal involuntary eye movements
79947	DHDDS	HP:0000546	Retinal degeneration
79955	PDZD7	HP:0001251	Ataxia
79955	PDZD7	HP:0007360	Aplasia/Hypoplasia of the cerebellum
79955	PDZD7	HP:0000007	Autosomal recessive inheritance
79955	PDZD7	HP:0012157	Subcortical cerebral atrophy
79955	PDZD7	HP:0002120	Cerebral cortical atrophy
79955	PDZD7	HP:0100753	Schizophrenia
79955	PDZD7	HP:0008527	Congenital sensorineural hearing impairment
79955	PDZD7	HP:0000639	Nystagmus
79955	PDZD7	HP:0000682	Abnormal dental enamel morphology
79955	PDZD7	HP:0000691	Microdontia
79955	PDZD7	HP:0000662	Nyctalopia
79955	PDZD7	HP:0000670	Carious teeth
79955	PDZD7	HP:0000738	Hallucinations
79955	PDZD7	HP:0000739	Anxiety
79955	PDZD7	HP:0000716	Depression
79955	PDZD7	HP:0007730	Iris hypopigmentation
79955	PDZD7	HP:0011073	Abnormality of dental color
79955	PDZD7	HP:0012377	Hemianopia
79955	PDZD7	HP:0000365	Hearing impairment
79955	PDZD7	HP:0000359	Abnormality of the inner ear
79955	PDZD7	HP:0000407	Sensorineural hearing impairment
79955	PDZD7	HP:0000479	Abnormal retinal morphology
79955	PDZD7	HP:0001751	Abnormal vestibular function
79955	PDZD7	HP:0000518	Cataract
79955	PDZD7	HP:0000510	Rod-cone dystrophy
79955	PDZD7	HP:0000512	Abnormal electroretinogram
79955	PDZD7	HP:0000505	Visual impairment
79955	PDZD7	HP:0000575	Scotoma
79955	PDZD7	HP:0000572	Visual loss
79955	PDZD7	HP:0000545	Myopia
79966	SCD5	HP:0000006	Autosomal dominant inheritance
79966	SCD5	HP:0000408	Progressive sensorineural hearing impairment
79966	SCD5	HP:0001751	Abnormal vestibular function
79971	WLS	HP:0010862	Delayed fine motor development
79971	WLS	HP:0100807	Long fingers
79971	WLS	HP:0001276	Hypertonia
79971	WLS	HP:0001250	Seizure
79971	WLS	HP:0001252	Hypotonia
79971	WLS	HP:0001249	Intellectual disability
79971	WLS	HP:0001347	Hyperreflexia
79971	WLS	HP:0000007	Autosomal recessive inheritance
79971	WLS	HP:0001320	Cerebellar vermis hypoplasia
79971	WLS	HP:0002650	Scoliosis
79971	WLS	HP:0000154	Wide mouth
79971	WLS	HP:0000126	Hydronephrosis
79971	WLS	HP:0000104	Renal agenesis
79971	WLS	HP:0002064	Spastic gait
79971	WLS	HP:0002079	Hypoplasia of the corpus callosum
79971	WLS	HP:0002198	Dilated fourth ventricle
79971	WLS	HP:0002194	Delayed gross motor development
79971	WLS	HP:0003593	Infantile onset
79971	WLS	HP:0003577	Congenital onset
79971	WLS	HP:0002209	Sparse scalp hair
79971	WLS	HP:0002376	Developmental regression
79971	WLS	HP:0002317	Unsteady gait
79971	WLS	HP:0009836	Broad distal phalanx of finger
79971	WLS	HP:0010746	Hypoplasia of the phalanges of the toes
79971	WLS	HP:0004322	Short stature
79971	WLS	HP:0004396	Poor appetite
79971	WLS	HP:0034185	Median pseudocleft lip
79971	WLS	HP:0000750	Delayed speech and language development
79971	WLS	HP:0000776	Congenital diaphragmatic hernia
79971	WLS	HP:0045075	Sparse eyebrow
79971	WLS	HP:0100257	Ectrodactyly
79971	WLS	HP:0000974	Hyperextensible skin
79971	WLS	HP:0000960	Sacral dimple
79971	WLS	HP:0000252	Microcephaly
79971	WLS	HP:0000218	High palate
79971	WLS	HP:0000384	Preauricular skin tag
79971	WLS	HP:0000378	Cupped ear
79971	WLS	HP:0000340	Sloping forehead
79971	WLS	HP:0000348	High forehead
79971	WLS	HP:0000347	Micrognathia
79971	WLS	HP:0001643	Patent ductus arteriosus
79971	WLS	HP:0000322	Short philtrum
79971	WLS	HP:0001655	Patent foramen ovale
79971	WLS	HP:0006610	Wide intermamillary distance
79971	WLS	HP:0012488	Intraventricular arachnoid cyst
79971	WLS	HP:0005338	Sparse lateral eyebrow
79971	WLS	HP:0000463	Anteverted nares
79971	WLS	HP:0012434	Delayed social development
79971	WLS	HP:0001770	Toe syndactyly
79971	WLS	HP:0000445	Wide nose
79971	WLS	HP:0000431	Wide nasal bridge
79971	WLS	HP:0001800	Hypoplastic toenails
79977	GRHL2	HP:0009918	Ectopia pupillae
79977	GRHL2	HP:0025358	Uveal ectropion
79977	GRHL2	HP:0012040	Corneal stromal edema
79977	GRHL2	HP:0000007	Autosomal recessive inheritance
79977	GRHL2	HP:0000006	Autosomal dominant inheritance
79977	GRHL2	HP:0007663	Reduced visual acuity
79977	GRHL2	HP:0006297	Enamel hypoplasia
79977	GRHL2	HP:0002015	Dysphagia
79977	GRHL2	HP:0002099	Asthma
79977	GRHL2	HP:0002043	Esophageal stricture
79977	GRHL2	HP:0003593	Infantile onset
79977	GRHL2	HP:0008404	Nail dystrophy
79977	GRHL2	HP:0003676	Progressive
79977	GRHL2	HP:0200026	Ocular pain
79977	GRHL2	HP:0025092	Epidermal acanthosis
79977	GRHL2	HP:0200065	Chorioretinal degeneration
79977	GRHL2	HP:0032122	Very low visual acuity
79977	GRHL2	HP:0100692	Increased corneal curvature
79977	GRHL2	HP:0000632	Lacrimation abnormality
79977	GRHL2	HP:0000646	Amblyopia
79977	GRHL2	HP:0000613	Photophobia
79977	GRHL2	HP:0000622	Blurred vision
79977	GRHL2	HP:0000684	Delayed eruption of teeth
79977	GRHL2	HP:0000668	Hypodontia
79977	GRHL2	HP:0004322	Short stature
79977	GRHL2	HP:0011491	Reduced number of corneal endothelial cells
79977	GRHL2	HP:0011490	Abnormal Descemet membrane morphology
79977	GRHL2	HP:0011483	Anterior synechiae of the anterior chamber
79977	GRHL2	HP:0000982	Palmoplantar keratoderma
79977	GRHL2	HP:0000962	Hyperkeratosis
79977	GRHL2	HP:0007957	Corneal opacity
79977	GRHL2	HP:0007906	Ocular hypertension
79977	GRHL2	HP:0000407	Sensorineural hearing impairment
79977	GRHL2	HP:0000483	Astigmatism
79977	GRHL2	HP:0001798	Anonychia
79977	GRHL2	HP:0000501	Glaucoma
79977	GRHL2	HP:0000565	Esotropia
79983	POF1B	HP:0000164	Abnormality of the dentition
79983	POF1B	HP:0001419	X-linked recessive inheritance
79983	POF1B	HP:0008222	Female infertility
79983	POF1B	HP:0008209	Premature ovarian insufficiency
79983	POF1B	HP:0011462	Young adult onset
79983	POF1B	HP:0000786	Primary amenorrhea
79983	POF1B	HP:0000823	Delayed puberty
79983	POF1B	HP:0034344	Female-limited expression
79983	POF1B	HP:0000939	Osteoporosis
79989	IFT56	HP:0025116	Fetal distress
79989	IFT56	HP:0001159	Syndactyly
79989	IFT56	HP:0003774	Stage 5 chronic kidney disease
79989	IFT56	HP:0010946	Dilatation of the renal pelvis
79989	IFT56	HP:0002410	Aqueductal stenosis
79989	IFT56	HP:0033542	Bronchial wall thickening
79989	IFT56	HP:0001250	Seizure
79989	IFT56	HP:0001252	Hypotonia
79989	IFT56	HP:0001263	Global developmental delay
79989	IFT56	HP:0001257	Spasticity
79989	IFT56	HP:0007430	Generalized edema
79989	IFT56	HP:0033614	Tracheal bronchus
79989	IFT56	HP:0003811	Neonatal death
79989	IFT56	HP:0000083	Renal insufficiency
79989	IFT56	HP:0001396	Cholestasis
79989	IFT56	HP:0001395	Hepatic fibrosis
79989	IFT56	HP:0001394	Cirrhosis
79989	IFT56	HP:0001382	Joint hypermobility
79989	IFT56	HP:0012020	Right aortic arch
79989	IFT56	HP:0000023	Inguinal hernia
79989	IFT56	HP:0000007	Autosomal recessive inheritance
79989	IFT56	HP:0002612	Congenital hepatic fibrosis
79989	IFT56	HP:0002613	Biliary cirrhosis
79989	IFT56	HP:0002783	Recurrent lower respiratory tract infections
79989	IFT56	HP:0000126	Hydronephrosis
79989	IFT56	HP:0001409	Portal hypertension
79989	IFT56	HP:0001408	Bile duct proliferation
79989	IFT56	HP:0002020	Gastroesophageal reflux
79989	IFT56	HP:0040319	Dark urine
79989	IFT56	HP:0002007	Frontal bossing
79989	IFT56	HP:0002099	Asthma
79989	IFT56	HP:0002092	Pulmonary arterial hypertension
79989	IFT56	HP:0030948	Elevated gamma-glutamyltransferase level
79989	IFT56	HP:0002040	Esophageal varix
79989	IFT56	HP:0010445	Primum atrial septal defect
79989	IFT56	HP:0010442	Polydactyly
79989	IFT56	HP:0033149	Intrahepatic bile duct dilatation
79989	IFT56	HP:0002151	Increased serum lactate
79989	IFT56	HP:0003429	CNS hypomyelination
79989	IFT56	HP:0004719	Hyperechogenic kidneys
79989	IFT56	HP:0003593	Infantile onset
79989	IFT56	HP:0003577	Congenital onset
79989	IFT56	HP:0002240	Hepatomegaly
79989	IFT56	HP:0002205	Recurrent respiratory infections
79989	IFT56	HP:0010627	Anterior pituitary hypoplasia
79989	IFT56	HP:0004976	Knee dislocation
79989	IFT56	HP:0010774	Cor triatriatum
79989	IFT56	HP:0004927	Pulmonary artery dilatation
79989	IFT56	HP:0010068	Broad first metatarsal
79989	IFT56	HP:0006892	Frontotemporal cerebral atrophy
79989	IFT56	HP:0001942	Metabolic acidosis
79989	IFT56	HP:0011344	Severe global developmental delay
79989	IFT56	HP:0011304	Broad thumb
79989	IFT56	HP:0004322	Short stature
79989	IFT56	HP:0031956	Elevated circulating aspartate aminotransferase concentration
79989	IFT56	HP:0031964	Elevated circulating alanine aminotransferase concentration
79989	IFT56	HP:0006956	Lateral ventricle dilatation
79989	IFT56	HP:0003073	Hypoalbuminemia
79989	IFT56	HP:0012766	Widened cerebral subarachnoid space
79989	IFT56	HP:0003124	Hypercholesterolemia
79989	IFT56	HP:0003155	Elevated circulating alkaline phosphatase concentration
79989	IFT56	HP:0000873	Diabetes insipidus
79989	IFT56	HP:0011579	Unbalanced atrioventricular canal defect
79989	IFT56	HP:0011565	Common atrium
79989	IFT56	HP:0003270	Abdominal distention
79989	IFT56	HP:0003281	Increased circulating ferritin concentration
79989	IFT56	HP:0003259	Elevated circulating creatinine concentration
79989	IFT56	HP:0100259	Postaxial polydactyly
79989	IFT56	HP:0011622	Inlet ventricular septal defect
79989	IFT56	HP:0000952	Jaundice
79989	IFT56	HP:0000969	Edema
79989	IFT56	HP:0000938	Osteopenia
79989	IFT56	HP:0000276	Long face
79989	IFT56	HP:0000238	Hydrocephalus
79989	IFT56	HP:0001561	Polyhydramnios
79989	IFT56	HP:0000232	Everted lower lip vermilion
79989	IFT56	HP:0001541	Ascites
79989	IFT56	HP:0031358	Vegetative state
79989	IFT56	HP:0001508	Failure to thrive
79989	IFT56	HP:0012382	Left-to-right shunt
79989	IFT56	HP:0012383	Bidirectional shunt
79989	IFT56	HP:0006579	Prolonged neonatal jaundice
79989	IFT56	HP:0001612	Weak cry
79989	IFT56	HP:0005180	Tricuspid regurgitation
79989	IFT56	HP:0002908	Conjugated hyperbilirubinemia
79989	IFT56	HP:0002904	Hyperbilirubinemia
79989	IFT56	HP:0001696	Situs inversus totalis
79989	IFT56	HP:0000365	Hearing impairment
79989	IFT56	HP:0001695	Cardiac arrest
79989	IFT56	HP:0000369	Low-set ears
79989	IFT56	HP:0001684	Secundum atrial septal defect
79989	IFT56	HP:0001651	Dextrocardia
79989	IFT56	HP:0000316	Hypertelorism
79989	IFT56	HP:0001643	Patent ductus arteriosus
79989	IFT56	HP:0000311	Round face
79989	IFT56	HP:0001659	Aortic regurgitation
79989	IFT56	HP:0001655	Patent foramen ovale
79989	IFT56	HP:0001629	Ventricular septal defect
79989	IFT56	HP:0006695	Atrioventricular canal defect
79989	IFT56	HP:0005280	Depressed nasal bridge
79989	IFT56	HP:0000490	Deeply set eye
79989	IFT56	HP:0000463	Anteverted nares
79989	IFT56	HP:0012408	Medullary nephrocalcinosis
79989	IFT56	HP:0000411	Protruding ear
79989	IFT56	HP:0001744	Splenomegaly
79989	IFT56	HP:0000582	Upslanted palpebral fissure
79989	IFT56	HP:0000589	Coloboma
79991	STN1	HP:0025175	Honeycomb lung
79991	STN1	HP:0025179	Ground-glass opacification
79991	STN1	HP:0001251	Ataxia
79991	STN1	HP:0001257	Spasticity
79991	STN1	HP:0025390	Reticular pattern on pulmonary HRCT
79991	STN1	HP:0001332	Dystonia
79991	STN1	HP:0000007	Autosomal recessive inheritance
79991	STN1	HP:0001409	Portal hypertension
79991	STN1	HP:0002020	Gastroesophageal reflux
79991	STN1	HP:0002040	Esophageal varix
79991	STN1	HP:0010444	Pulmonary insufficiency
79991	STN1	HP:0002110	Bronchiectasis
79991	STN1	HP:0002239	Gastrointestinal hemorrhage
79991	STN1	HP:0002216	Premature graying of hair
79991	STN1	HP:0002206	Pulmonary fibrosis
79991	STN1	HP:0100759	Clubbing of fingers
79991	STN1	HP:0012735	Cough
79991	STN1	HP:0030830	Crackles
79991	STN1	HP:0000938	Osteopenia
79991	STN1	HP:0007763	Retinal telangiectasia
79991	STN1	HP:0002875	Exertional dyspnea
79991	STN1	HP:0001511	Intrauterine growth retardation
79991	STN1	HP:0001510	Growth delay
79991	STN1	HP:0006530	Abnormal pulmonary interstitial morphology
79991	STN1	HP:0001876	Pancytopenia
80000	GREB1L	HP:0002575	Tracheoesophageal fistula
80000	GREB1L	HP:0003829	Typified by incomplete penetrance
80000	GREB1L	HP:0000085	Horseshoe kidney
80000	GREB1L	HP:0000076	Vesicoureteral reflux
80000	GREB1L	HP:0000008	Abnormal morphology of female internal genitalia
80000	GREB1L	HP:0000003	Multicystic kidney dysplasia
80000	GREB1L	HP:0000006	Autosomal dominant inheritance
80000	GREB1L	HP:0000175	Cleft palate
80000	GREB1L	HP:0000130	Abnormality of the uterus
80000	GREB1L	HP:0000126	Hydronephrosis
80000	GREB1L	HP:0000110	Renal dysplasia
80000	GREB1L	HP:0000104	Renal agenesis
80000	GREB1L	HP:0002089	Pulmonary hypoplasia
80000	GREB1L	HP:0100589	Urogenital fistula
80000	GREB1L	HP:0010497	Sirenomelia
80000	GREB1L	HP:0003577	Congenital onset
80000	GREB1L	HP:0002242	Abnormal intestine morphology
80000	GREB1L	HP:0008527	Congenital sensorineural hearing impairment
80000	GREB1L	HP:0001958	Nonketotic hypoglycemia
80000	GREB1L	HP:0011379	Dilated vestibule of the inner ear
80000	GREB1L	HP:0011380	Morphological abnormality of the semicircular canal
80000	GREB1L	HP:0011375	Cochlear aplasia
80000	GREB1L	HP:0030680	Abnormality of cardiovascular system morphology
80000	GREB1L	HP:0100335	Non-midline cleft lip
80000	GREB1L	HP:0000286	Epicanthus
80000	GREB1L	HP:0005107	Abnormal sacrum morphology
80000	GREB1L	HP:0001562	Oligohydramnios
80000	GREB1L	HP:0001563	Fetal polyuria
80000	GREB1L	HP:0000369	Low-set ears
80000	GREB1L	HP:0000316	Hypertelorism
80000	GREB1L	HP:0000457	Depressed nasal ridge
80025	PANK2	HP:0002493	Upper motor neuron dysfunction
80025	PANK2	HP:0002454	Eye of the tiger anomaly of globus pallidus
80025	PANK2	HP:0002451	Limb dystonia
80025	PANK2	HP:0007325	Generalized dystonia
80025	PANK2	HP:0007313	Cerebral degeneration
80025	PANK2	HP:0007256	Abnormal pyramidal sign
80025	PANK2	HP:0001268	Mental deterioration
80025	PANK2	HP:0001288	Gait disturbance
80025	PANK2	HP:0001250	Seizure
80025	PANK2	HP:0001251	Ataxia
80025	PANK2	HP:0001266	Choreoathetosis
80025	PANK2	HP:0001260	Dysarthria
80025	PANK2	HP:0001263	Global developmental delay
80025	PANK2	HP:0001257	Spasticity
80025	PANK2	HP:0008770	Obsessive-compulsive trait
80025	PANK2	HP:0008760	Violent behavior
80025	PANK2	HP:0002540	Inability to walk
80025	PANK2	HP:0002533	Abnormal posturing
80025	PANK2	HP:0012048	Oromandibular dystonia
80025	PANK2	HP:0000020	Urinary incontinence
80025	PANK2	HP:0001347	Hyperreflexia
80025	PANK2	HP:0008872	Feeding difficulties in infancy
80025	PANK2	HP:0001332	Dystonia
80025	PANK2	HP:0002659	Increased susceptibility to fractures
80025	PANK2	HP:0000007	Autosomal recessive inheritance
80025	PANK2	HP:0001337	Tremor
80025	PANK2	HP:0001300	Parkinsonism
80025	PANK2	HP:0000157	Abnormality of the tongue
80025	PANK2	HP:0002015	Dysphagia
80025	PANK2	HP:0100543	Cognitive impairment
80025	PANK2	HP:0002067	Bradykinesia
80025	PANK2	HP:0002063	Rigidity
80025	PANK2	HP:0002072	Chorea
80025	PANK2	HP:0002071	Abnormality of extrapyramidal motor function
80025	PANK2	HP:0003487	Babinski sign
80025	PANK2	HP:0002180	Neurodegeneration
80025	PANK2	HP:0002167	Abnormality of speech or vocalization
80025	PANK2	HP:0002179	Opisthotonus
80025	PANK2	HP:0003593	Infantile onset
80025	PANK2	HP:0100710	Impulsivity
80025	PANK2	HP:0003552	Muscle stiffness
80025	PANK2	HP:0003563	Decreased LDL cholesterol concentration
80025	PANK2	HP:0002283	Global brain atrophy
80025	PANK2	HP:0007018	Attention deficit hyperactivity disorder
80025	PANK2	HP:0011951	Aspiration pneumonia
80025	PANK2	HP:0002359	Frequent falls
80025	PANK2	HP:0003677	Slowly progressive
80025	PANK2	HP:0003678	Rapidly progressive
80025	PANK2	HP:0007132	Pallidal degeneration
80025	PANK2	HP:0002312	Clumsiness
80025	PANK2	HP:0002310	Orofacial dyskinesia
80025	PANK2	HP:0002304	Akinesia
80025	PANK2	HP:0003621	Juvenile onset
80025	PANK2	HP:0031814	Palilalia
80025	PANK2	HP:0000648	Optic atrophy
80025	PANK2	HP:0000643	Blepharospasm
80025	PANK2	HP:0000618	Blindness
80025	PANK2	HP:0001927	Acanthocytosis
80025	PANK2	HP:0012675	Iron accumulation in brain
80025	PANK2	HP:0000658	Eyelid apraxia
80025	PANK2	HP:0004373	Focal dystonia
80025	PANK2	HP:0000752	Hyperactivity
80025	PANK2	HP:0012735	Cough
80025	PANK2	HP:0100035	Phonic tics
80025	PANK2	HP:0100034	Motor tics
80025	PANK2	HP:0000737	Irritability
80025	PANK2	HP:0000716	Depression
80025	PANK2	HP:0000712	Emotional lability
80025	PANK2	HP:0000726	Dementia
80025	PANK2	HP:0000722	Compulsive behaviors
80025	PANK2	HP:0000709	Psychosis
80025	PANK2	HP:0011463	Childhood onset
80025	PANK2	HP:0003198	Myopathy
80025	PANK2	HP:0003199	Decreased muscle mass
80025	PANK2	HP:0000953	Hyperpigmentation of the skin
80025	PANK2	HP:0000298	Mask-like facies
80025	PANK2	HP:0000273	Facial grimacing
80025	PANK2	HP:0030051	Tip-toe gait
80025	PANK2	HP:0001618	Dysphonia
80025	PANK2	HP:0030216	Inertia
80025	PANK2	HP:0012473	Tongue atrophy
80025	PANK2	HP:0000488	Retinopathy
80025	PANK2	HP:0001760	Abnormal foot morphology
80025	PANK2	HP:0000510	Rod-cone dystrophy
80025	PANK2	HP:0001824	Weight loss
80025	PANK2	HP:0000580	Pigmentary retinopathy
80025	PANK2	HP:0000546	Retinal degeneration
80025	PANK2	HP:0000543	Optic disc pallor
80055	PGAP1	HP:0100952	Enlarged sylvian cistern
80055	PGAP1	HP:0010864	Intellectual disability, severe
80055	PGAP1	HP:0003700	Generalized amyotrophy
80055	PGAP1	HP:0001276	Hypertonia
80055	PGAP1	HP:0001274	Agenesis of corpus callosum
80055	PGAP1	HP:0001270	Motor delay
80055	PGAP1	HP:0001256	Intellectual disability, mild
80055	PGAP1	HP:0001250	Seizure
80055	PGAP1	HP:0001252	Hypotonia
80055	PGAP1	HP:0001249	Intellectual disability
80055	PGAP1	HP:0001263	Global developmental delay
80055	PGAP1	HP:0001257	Spasticity
80055	PGAP1	HP:0002553	Highly arched eyebrow
80055	PGAP1	HP:0025336	Delayed ability to sit
80055	PGAP1	HP:0001347	Hyperreflexia
80055	PGAP1	HP:0001344	Absent speech
80055	PGAP1	HP:0000007	Autosomal recessive inheritance
80055	PGAP1	HP:0001320	Cerebellar vermis hypoplasia
80055	PGAP1	HP:0001319	Neonatal hypotonia
80055	PGAP1	HP:0000193	Bifid uvula
80055	PGAP1	HP:0000164	Abnormality of the dentition
80055	PGAP1	HP:0000154	Wide mouth
80055	PGAP1	HP:0008936	Axial hypotonia
80055	PGAP1	HP:0006297	Enamel hypoplasia
80055	PGAP1	HP:0002069	Bilateral tonic-clonic seizure
80055	PGAP1	HP:0002064	Spastic gait
80055	PGAP1	HP:0002061	Lower limb spasticity
80055	PGAP1	HP:0002079	Hypoplasia of the corpus callosum
80055	PGAP1	HP:0002059	Cerebral atrophy
80055	PGAP1	HP:0033128	Delayed ability to crawl
80055	PGAP1	HP:0003487	Babinski sign
80055	PGAP1	HP:0002120	Cerebral cortical atrophy
80055	PGAP1	HP:0002121	Generalized non-motor (absence) seizure
80055	PGAP1	HP:0002188	Delayed CNS myelination
80055	PGAP1	HP:0002162	Low posterior hairline
80055	PGAP1	HP:0003593	Infantile onset
80055	PGAP1	HP:0100704	Cerebral visual impairment
80055	PGAP1	HP:0007020	Progressive spastic paraplegia
80055	PGAP1	HP:0200085	Limb tremor
80055	PGAP1	HP:0011968	Feeding difficulties
80055	PGAP1	HP:0002342	Intellectual disability, moderate
80055	PGAP1	HP:0002355	Difficulty walking
80055	PGAP1	HP:0100660	Dyskinesia
80055	PGAP1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
80055	PGAP1	HP:0000639	Nystagmus
80055	PGAP1	HP:0004322	Short stature
80055	PGAP1	HP:0006934	Congenital nystagmus
80055	PGAP1	HP:0030691	Divergence nystagmus
80055	PGAP1	HP:0031936	Delayed ability to walk
80055	PGAP1	HP:0100022	Abnormality of movement
80055	PGAP1	HP:0000750	Delayed speech and language development
80055	PGAP1	HP:0000748	Inappropriate laughter
80055	PGAP1	HP:0011471	Gastrostomy tube feeding in infancy
80055	PGAP1	HP:0011463	Childhood onset
80055	PGAP1	HP:0003202	Skeletal muscle atrophy
80055	PGAP1	HP:0000294	Low anterior hairline
80055	PGAP1	HP:0000252	Microcephaly
80055	PGAP1	HP:0001508	Failure to thrive
80055	PGAP1	HP:0000395	Prominent antihelix
80055	PGAP1	HP:0001684	Secundum atrial septal defect
80055	PGAP1	HP:0001642	Pulmonic stenosis
80055	PGAP1	HP:0032989	Delayed ability to roll over
80055	PGAP1	HP:0000400	Macrotia
80055	PGAP1	HP:0005280	Depressed nasal bridge
80055	PGAP1	HP:0000490	Deeply set eye
80055	PGAP1	HP:0012447	Abnormal myelination
80055	PGAP1	HP:0000470	Short neck
80055	PGAP1	HP:0000582	Upslanted palpebral fissure
80055	PGAP1	HP:0000556	Retinal dystrophy
80067	DCAF17	HP:0008619	Bilateral sensorineural hearing impairment
80067	DCAF17	HP:0001268	Mental deterioration
80067	DCAF17	HP:0001256	Intellectual disability, mild
80067	DCAF17	HP:0001249	Intellectual disability
80067	DCAF17	HP:0001266	Choreoathetosis
80067	DCAF17	HP:0001260	Dysarthria
80067	DCAF17	HP:0100840	Aplasia/Hypoplasia of the eyebrow
80067	DCAF17	HP:0008734	Decreased testicular size
80067	DCAF17	HP:0008697	Hypoplasia of the fallopian tube
80067	DCAF17	HP:0008669	Abnormal spermatogenesis
80067	DCAF17	HP:0000044	Hypogonadotropic hypogonadism
80067	DCAF17	HP:0000054	Micropenis
80067	DCAF17	HP:0001332	Dystonia
80067	DCAF17	HP:0000013	Hypoplasia of the uterus
80067	DCAF17	HP:0000007	Autosomal recessive inheritance
80067	DCAF17	HP:0000135	Hypogonadism
80067	DCAF17	HP:0002750	Delayed skeletal maturation
80067	DCAF17	HP:0002071	Abnormality of extrapyramidal motor function
80067	DCAF17	HP:0010464	Streak ovary
80067	DCAF17	HP:0008209	Premature ovarian insufficiency
80067	DCAF17	HP:0008214	Decreased serum estradiol
80067	DCAF17	HP:0002213	Fine hair
80067	DCAF17	HP:0000674	Anodontia
80067	DCAF17	HP:0003077	Hyperlipidemia
80067	DCAF17	HP:0000738	Hallucinations
80067	DCAF17	HP:0000709	Psychosis
80067	DCAF17	HP:0000831	Insulin-resistant diabetes mellitus
80067	DCAF17	HP:0000842	Hyperinsulinemia
80067	DCAF17	HP:0000819	Diabetes mellitus
80067	DCAF17	HP:0000815	Hypergonadotropic hypogonadism
80067	DCAF17	HP:0000821	Hypothyroidism
80067	DCAF17	HP:0000824	Decreased response to growth hormone stimulation test
80067	DCAF17	HP:0000823	Delayed puberty
80067	DCAF17	HP:0000938	Osteopenia
80067	DCAF17	HP:0008070	Sparse hair
80067	DCAF17	HP:0040171	Decreased serum testosterone concentration
80067	DCAF17	HP:0040189	Scaling skin
80067	DCAF17	HP:0001596	Alopecia
80067	DCAF17	HP:0005135	Abnormal T-wave
80067	DCAF17	HP:0001510	Growth delay
80067	DCAF17	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
80067	DCAF17	HP:0000365	Hearing impairment
80067	DCAF17	HP:0000325	Triangular face
80067	DCAF17	HP:0000407	Sensorineural hearing impairment
80067	DCAF17	HP:0000448	Prominent nose
80067	DCAF17	HP:0000411	Protruding ear
80067	DCAF17	HP:0000426	Prominent nasal bridge
80067	DCAF17	HP:0030353	Decreased serum insulin-like growth factor 1
80114	BICC1	HP:0003774	Stage 5 chronic kidney disease
80114	BICC1	HP:0000083	Renal insufficiency
80114	BICC1	HP:0000076	Vesicoureteral reflux
80114	BICC1	HP:0000010	Recurrent urinary tract infections
80114	BICC1	HP:0000006	Autosomal dominant inheritance
80114	BICC1	HP:0002616	Aortic root aneurysm
80114	BICC1	HP:0000110	Renal dysplasia
80114	BICC1	HP:0000107	Renal cyst
80114	BICC1	HP:0000105	Enlarged kidney
80114	BICC1	HP:0001407	Hepatic cysts
80114	BICC1	HP:0011760	Pituitary growth hormone cell adenoma
80114	BICC1	HP:0004719	Hyperechogenic kidneys
80114	BICC1	HP:0100702	Arachnoid cyst
80114	BICC1	HP:0004944	Dilatation of the cerebral artery
80114	BICC1	HP:0012622	Chronic kidney disease
80114	BICC1	HP:0030674	Antenatal onset
80114	BICC1	HP:0000800	Cystic renal dysplasia
80114	BICC1	HP:0000790	Hematuria
80114	BICC1	HP:0000787	Nephrolithiasis
80114	BICC1	HP:0000822	Hypertension
80114	BICC1	HP:0003259	Elevated circulating creatinine concentration
80114	BICC1	HP:0012213	Decreased glomerular filtration rate
80114	BICC1	HP:0012207	Reduced sperm motility
80114	BICC1	HP:0006557	Polycystic liver disease
80114	BICC1	HP:0011004	Abnormal systemic arterial morphology
80114	BICC1	HP:0012330	Pyelonephritis
80114	BICC1	HP:0001634	Mitral valve prolapse
80114	BICC1	HP:0001737	Pancreatic cysts
80114	BICC1	HP:0012591	Abnormal urinary electrolyte concentration
80114	BICC1	HP:0012592	Albuminuria
80114	BICC1	HP:0012531	Pain
80144	FRAS1	HP:0001126	Cryptophthalmos
80144	FRAS1	HP:0002475	Myelomeningocele
80144	FRAS1	HP:0008609	Morphological abnormality of the middle ear
80144	FRAS1	HP:0008572	External ear malformation
80144	FRAS1	HP:0008559	Hypoplastic superior helix
80144	FRAS1	HP:0001250	Seizure
80144	FRAS1	HP:0001249	Intellectual disability
80144	FRAS1	HP:0006101	Finger syndactyly
80144	FRAS1	HP:0008750	Laryngeal atresia
80144	FRAS1	HP:0008736	Hypoplasia of penis
80144	FRAS1	HP:0008678	Renal hypoplasia/aplasia
80144	FRAS1	HP:0008665	Clitoral hypertrophy
80144	FRAS1	HP:0002536	Abnormal cortical gyration
80144	FRAS1	HP:0000089	Renal hypoplasia
80144	FRAS1	HP:0000068	Urethral atresia
80144	FRAS1	HP:0000062	Ambiguous genitalia
80144	FRAS1	HP:0000046	Small scrotum
80144	FRAS1	HP:0000054	Micropenis
80144	FRAS1	HP:0000047	Hypospadias
80144	FRAS1	HP:0001362	Calvarial skull defect
80144	FRAS1	HP:0000028	Cryptorchidism
80144	FRAS1	HP:0000007	Autosomal recessive inheritance
80144	FRAS1	HP:0000003	Multicystic kidney dysplasia
80144	FRAS1	HP:0000183	Difficulty in tongue movements
80144	FRAS1	HP:0000175	Cleft palate
80144	FRAS1	HP:0000142	Abnormal vagina morphology
80144	FRAS1	HP:0000148	Vaginal atresia
80144	FRAS1	HP:0007633	Bilateral microphthalmos
80144	FRAS1	HP:0002777	Tracheal stenosis
80144	FRAS1	HP:0002025	Anal stenosis
80144	FRAS1	HP:0002023	Anal atresia
80144	FRAS1	HP:0002006	Facial cleft
80144	FRAS1	HP:0005950	Laryngeal web
80144	FRAS1	HP:0002089	Pulmonary hypoplasia
80144	FRAS1	HP:0002084	Encephalocele
80144	FRAS1	HP:0010458	Female pseudohermaphroditism
80144	FRAS1	HP:0002101	Abnormal lung lobation
80144	FRAS1	HP:0003422	Vertebral segmentation defect
80144	FRAS1	HP:0009601	Aplasia/Hypoplasia of the thumb
80144	FRAS1	HP:0010554	Cutaneous finger syndactyly
80144	FRAS1	HP:0002244	Abnormal small intestine morphology
80144	FRAS1	HP:0002223	Absent eyebrow
80144	FRAS1	HP:0010720	Abnormal hair pattern
80144	FRAS1	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
80144	FRAS1	HP:0000636	Upper eyelid coloboma
80144	FRAS1	HP:0000618	Blindness
80144	FRAS1	HP:0000678	Dental crowding
80144	FRAS1	HP:0000689	Dental malocclusion
80144	FRAS1	HP:0030680	Abnormality of cardiovascular system morphology
80144	FRAS1	HP:0004397	Ectopic anus
80144	FRAS1	HP:0004378	Abnormality of the anus
80144	FRAS1	HP:0000777	Abnormality of the thymus
80144	FRAS1	HP:0003191	Cleft ala nasi
80144	FRAS1	HP:0003183	Wide pubic symphysis
80144	FRAS1	HP:0000813	Bicornuate uterus
80144	FRAS1	HP:0010297	Bifid tongue
80144	FRAS1	HP:0000238	Hydrocephalus
80144	FRAS1	HP:0000252	Microcephaly
80144	FRAS1	HP:0001551	Abnormal umbilicus morphology
80144	FRAS1	HP:0000218	High palate
80144	FRAS1	HP:0001522	Death in infancy
80144	FRAS1	HP:0001537	Umbilical hernia
80144	FRAS1	HP:0001539	Omphalocele
80144	FRAS1	HP:0000202	Orofacial cleft
80144	FRAS1	HP:0000204	Cleft upper lip
80144	FRAS1	HP:0000378	Cupped ear
80144	FRAS1	HP:0000377	Abnormal pinna morphology
80144	FRAS1	HP:0001607	Subglottic stenosis
80144	FRAS1	HP:0001602	Laryngeal stenosis
80144	FRAS1	HP:0000370	Abnormality of the middle ear
80144	FRAS1	HP:0000369	Low-set ears
80144	FRAS1	HP:0000368	Low-set, posteriorly rotated ears
80144	FRAS1	HP:0000316	Hypertelorism
80144	FRAS1	HP:0000324	Facial asymmetry
80144	FRAS1	HP:0001627	Abnormal heart morphology
80144	FRAS1	HP:0007957	Corneal opacity
80144	FRAS1	HP:0006610	Wide intermamillary distance
80144	FRAS1	HP:0007925	Lacrimal duct aplasia
80144	FRAS1	HP:0005352	Severe T-cell immunodeficiency
80144	FRAS1	HP:0007993	Malformed lacrimal duct
80144	FRAS1	HP:0005325	Extension of hair growth on temples to lateral eyebrow
80144	FRAS1	HP:0000405	Conductive hearing impairment
80144	FRAS1	HP:0005280	Depressed nasal bridge
80144	FRAS1	HP:0001792	Small nail
80144	FRAS1	HP:0001770	Toe syndactyly
80144	FRAS1	HP:0000452	Choanal stenosis
80144	FRAS1	HP:0000445	Wide nose
80144	FRAS1	HP:0000413	Atresia of the external auditory canal
80144	FRAS1	HP:0000431	Wide nasal bridge
80144	FRAS1	HP:0000430	Underdeveloped nasal alae
80144	FRAS1	HP:0006714	Aplasia/Hypoplasia of the sternum
80144	FRAS1	HP:0004112	Midline nasal groove
80144	FRAS1	HP:0000528	Anophthalmia
80144	FRAS1	HP:0000561	Absent eyelashes
80144	FRAS1	HP:0000568	Microphthalmia
80152	CENPT	HP:0001263	Global developmental delay
80152	CENPT	HP:0000054	Micropenis
80152	CENPT	HP:0000007	Autosomal recessive inheritance
80152	CENPT	HP:0002650	Scoliosis
80152	CENPT	HP:0000160	Narrow mouth
80152	CENPT	HP:0002020	Gastroesophageal reflux
80152	CENPT	HP:0011968	Feeding difficulties
80152	CENPT	HP:0003510	Severe short stature
80152	CENPT	HP:0004325	Decreased body weight
80152	CENPT	HP:0000823	Delayed puberty
80152	CENPT	HP:0003241	External genital hypoplasia
80152	CENPT	HP:0005832	Dysharmonic delayed bone age
80152	CENPT	HP:0000275	Narrow face
80152	CENPT	HP:0000252	Microcephaly
80152	CENPT	HP:0025515	Delayed thelarche
80152	CENPT	HP:0002857	Genu valgum
80152	CENPT	HP:0001508	Failure to thrive
80152	CENPT	HP:0000494	Downslanted palpebral fissures
80152	CENPT	HP:0000448	Prominent nose
80152	CENPT	HP:0000444	Convex nasal ridge
80152	CENPT	HP:0001741	Phimosis
80152	CENPT	HP:0001804	Hypoplastic fingernail
80152	CENPT	HP:0000540	Hypermetropia
80153	EDC3	HP:0001100	Heterochromia iridis
80153	EDC3	HP:0001256	Intellectual disability, mild
80153	EDC3	HP:0000007	Autosomal recessive inheritance
80153	EDC3	HP:0011463	Childhood onset
80153	EDC3	HP:0000252	Microcephaly
80153	EDC3	HP:0000407	Sensorineural hearing impairment
80155	NAA15	HP:0001270	Motor delay
80155	NAA15	HP:0001250	Seizure
80155	NAA15	HP:0001249	Intellectual disability
80155	NAA15	HP:0001263	Global developmental delay
80155	NAA15	HP:0000006	Autosomal dominant inheritance
80155	NAA15	HP:0007018	Attention deficit hyperactivity disorder
80155	NAA15	HP:0011968	Feeding difficulties
80155	NAA15	HP:0000750	Delayed speech and language development
80155	NAA15	HP:0000729	Autistic behavior
80169	CTC1	HP:0007256	Abnormal pyramidal sign
80169	CTC1	HP:0010885	Avascular necrosis
80169	CTC1	HP:0002415	Leukodystrophy
80169	CTC1	HP:0001268	Mental deterioration
80169	CTC1	HP:0002584	Intestinal bleeding
80169	CTC1	HP:0001250	Seizure
80169	CTC1	HP:0001251	Ataxia
80169	CTC1	HP:0001260	Dysarthria
80169	CTC1	HP:0001263	Global developmental delay
80169	CTC1	HP:0001257	Spasticity
80169	CTC1	HP:0001231	Abnormal fingernail morphology
80169	CTC1	HP:0002575	Tracheoesophageal fistula
80169	CTC1	HP:0100864	Short femoral neck
80169	CTC1	HP:0008661	Urethral stenosis
80169	CTC1	HP:0002514	Cerebral calcification
80169	CTC1	HP:0001399	Hepatic failure
80169	CTC1	HP:0001394	Cirrhosis
80169	CTC1	HP:0000035	Abnormal testis morphology
80169	CTC1	HP:0008897	Postnatal growth retardation
80169	CTC1	HP:0002664	Neoplasm
80169	CTC1	HP:0001332	Dystonia
80169	CTC1	HP:0002659	Increased susceptibility to fractures
80169	CTC1	HP:0000008	Abnormal morphology of female internal genitalia
80169	CTC1	HP:0000007	Autosomal recessive inheritance
80169	CTC1	HP:0002665	Lymphoma
80169	CTC1	HP:0001337	Tremor
80169	CTC1	HP:0002650	Scoliosis
80169	CTC1	HP:0002604	Gastrointestinal telangiectasia
80169	CTC1	HP:0000164	Abnormality of the dentition
80169	CTC1	HP:0002757	Recurrent fractures
80169	CTC1	HP:0002756	Pathologic fracture
80169	CTC1	HP:0002745	Oral leukoplakia
80169	CTC1	HP:0002024	Malabsorption
80169	CTC1	HP:0002062	Morphological abnormality of the pyramidal tract
80169	CTC1	HP:0002071	Abnormality of extrapyramidal motor function
80169	CTC1	HP:0010450	Esophageal stenosis
80169	CTC1	HP:0100585	Telangiectasia of the skin
80169	CTC1	HP:0002164	Nail dysplasia
80169	CTC1	HP:0003593	Infantile onset
80169	CTC1	HP:0002240	Hepatomegaly
80169	CTC1	HP:0002216	Premature graying of hair
80169	CTC1	HP:0002213	Fine hair
80169	CTC1	HP:0002205	Recurrent respiratory infections
80169	CTC1	HP:0002206	Pulmonary fibrosis
80169	CTC1	HP:0008404	Nail dystrophy
80169	CTC1	HP:0010648	Dermal translucency
80169	CTC1	HP:0010624	Aplastic/hypoplastic toenail
80169	CTC1	HP:0001053	Hypopigmented skin patches
80169	CTC1	HP:0001034	Hypermelanotic macule
80169	CTC1	HP:0003676	Progressive
80169	CTC1	HP:0002352	Leukoencephalopathy
80169	CTC1	HP:0004979	Metaphyseal sclerosis
80169	CTC1	HP:0200037	Skin vesicle
80169	CTC1	HP:0100670	Coarse metaphyseal trabecularization
80169	CTC1	HP:0100627	Displacement of the urethral meatus
80169	CTC1	HP:0200042	Skin ulcer
80169	CTC1	HP:0002301	Hemiplegia
80169	CTC1	HP:0005528	Bone marrow hypocellularity
80169	CTC1	HP:0000648	Optic atrophy
80169	CTC1	HP:0000618	Blindness
80169	CTC1	HP:0001928	Abnormality of coagulation
80169	CTC1	HP:0000600	Abnormality of the pharynx
80169	CTC1	HP:0001903	Anemia
80169	CTC1	HP:0011364	White hair
80169	CTC1	HP:0000679	Taurodontia
80169	CTC1	HP:0000670	Carious teeth
80169	CTC1	HP:0000668	Hypodontia
80169	CTC1	HP:0004322	Short stature
80169	CTC1	HP:0012732	Anorectal anomaly
80169	CTC1	HP:0012733	Macule
80169	CTC1	HP:0000704	Periodontitis
80169	CTC1	HP:0000819	Diabetes mellitus
80169	CTC1	HP:0000975	Hyperhidrosis
80169	CTC1	HP:0000982	Palmoplantar keratoderma
80169	CTC1	HP:0000963	Thin skin
80169	CTC1	HP:0000939	Osteoporosis
80169	CTC1	HP:0000938	Osteopenia
80169	CTC1	HP:0008070	Sparse hair
80169	CTC1	HP:0008065	Aplasia/Hypoplasia of the skin
80169	CTC1	HP:0008066	Abnormal blistering of the skin
80169	CTC1	HP:0001596	Alopecia
80169	CTC1	HP:0007763	Retinal telangiectasia
80169	CTC1	HP:0002894	Neoplasm of the pancreas
80169	CTC1	HP:0002857	Genu valgum
80169	CTC1	HP:0001511	Intrauterine growth retardation
80169	CTC1	HP:0007898	Exudative retinopathy
80169	CTC1	HP:0006487	Bowing of the long bones
80169	CTC1	HP:0000365	Hearing impairment
80169	CTC1	HP:0000327	Hypoplasia of the maxilla
80169	CTC1	HP:0000499	Abnormal eyelash morphology
80169	CTC1	HP:0000498	Blepharitis
80169	CTC1	HP:0005374	Cellular immunodeficiency
80169	CTC1	HP:0001744	Splenomegaly
80169	CTC1	HP:0000518	Cataract
80169	CTC1	HP:0000534	Abnormal eyebrow morphology
80169	CTC1	HP:0001874	Abnormality of neutrophils
80169	CTC1	HP:0001873	Thrombocytopenia
80173	IFT74	HP:0001162	Postaxial hand polydactyly
80173	IFT74	HP:0002419	Molar tooth sign on MRI
80173	IFT74	HP:0001270	Motor delay
80173	IFT74	HP:0001252	Hypotonia
80173	IFT74	HP:0001249	Intellectual disability
80173	IFT74	HP:0002591	Polyphagia
80173	IFT74	HP:0001263	Global developmental delay
80173	IFT74	HP:0006101	Finger syndactyly
80173	IFT74	HP:0008736	Hypoplasia of penis
80173	IFT74	HP:0008724	Hypoplasia of the ovary
80173	IFT74	HP:0001395	Hepatic fibrosis
80173	IFT74	HP:0000028	Cryptorchidism
80173	IFT74	HP:0000007	Autosomal recessive inheritance
80173	IFT74	HP:0000003	Multicystic kidney dysplasia
80173	IFT74	HP:0000135	Hypogonadism
80173	IFT74	HP:0000100	Nephrotic syndrome
80173	IFT74	HP:0032559	Short sperm flagella
80173	IFT74	HP:0010442	Polydactyly
80173	IFT74	HP:0002167	Abnormality of speech or vocalization
80173	IFT74	HP:0003577	Congenital onset
80173	IFT74	HP:0002230	Generalized hirsutism
80173	IFT74	HP:0033393	Irregularly shaped sperm tail
80173	IFT74	HP:0010747	Medial flaring of the eyebrow
80173	IFT74	HP:0000639	Nystagmus
80173	IFT74	HP:0000609	Optic nerve hypoplasia
80173	IFT74	HP:0034011	Reduced progressive sperm motility
80173	IFT74	HP:0000657	Oculomotor apraxia
80173	IFT74	HP:0004322	Short stature
80173	IFT74	HP:0000750	Delayed speech and language development
80173	IFT74	HP:0011462	Young adult onset
80173	IFT74	HP:0000798	Oligospermia
80173	IFT74	HP:0000822	Hypertension
80173	IFT74	HP:0003202	Skeletal muscle atrophy
80173	IFT74	HP:0003251	Male infertility
80173	IFT74	HP:0100259	Postaxial polydactyly
80173	IFT74	HP:0000256	Macrocephaly
80173	IFT74	HP:0000252	Microcephaly
80173	IFT74	HP:0012208	Immotile sperm
80173	IFT74	HP:0001520	Large for gestational age
80173	IFT74	HP:0001513	Obesity
80173	IFT74	HP:0007874	Almond-shaped palpebral fissure
80173	IFT74	HP:0000365	Hearing impairment
80173	IFT74	HP:0000368	Low-set, posteriorly rotated ears
80173	IFT74	HP:0007988	Macular hypopigmentation
80173	IFT74	HP:0005280	Depressed nasal bridge
80173	IFT74	HP:0000494	Downslanted palpebral fissures
80173	IFT74	HP:0000470	Short neck
80173	IFT74	HP:0000426	Prominent nasal bridge
80173	IFT74	HP:0000510	Rod-cone dystrophy
80173	IFT74	HP:0000512	Abnormal electroretinogram
80173	IFT74	HP:0000505	Visual impairment
80173	IFT74	HP:0001830	Postaxial foot polydactyly
80173	IFT74	HP:0000580	Pigmentary retinopathy
80184	CEP290	HP:0001177	Preaxial hand polydactyly
80184	CEP290	HP:0001162	Postaxial hand polydactyly
80184	CEP290	HP:0001161	Hand polydactyly
80184	CEP290	HP:0001141	Severely reduced visual acuity
80184	CEP290	HP:0003774	Stage 5 chronic kidney disease
80184	CEP290	HP:0002435	Meningocele
80184	CEP290	HP:0002419	Molar tooth sign on MRI
80184	CEP290	HP:0002404	Thickened superior cerebellar peduncle
80184	CEP290	HP:0001290	Generalized hypotonia
80184	CEP290	HP:0001250	Seizure
80184	CEP290	HP:0001252	Hypotonia
80184	CEP290	HP:0001251	Ataxia
80184	CEP290	HP:0001249	Intellectual disability
80184	CEP290	HP:0001263	Global developmental delay
80184	CEP290	HP:0006101	Finger syndactyly
80184	CEP290	HP:0008736	Hypoplasia of penis
80184	CEP290	HP:0008724	Hypoplasia of the ovary
80184	CEP290	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
80184	CEP290	HP:0002553	Highly arched eyebrow
80184	CEP290	HP:0000083	Renal insufficiency
80184	CEP290	HP:0000090	Nephronophthisis
80184	CEP290	HP:0000068	Urethral atresia
80184	CEP290	HP:0000062	Ambiguous genitalia
80184	CEP290	HP:0001395	Hepatic fibrosis
80184	CEP290	HP:0000073	Ureteral duplication
80184	CEP290	HP:0000037	Male pseudohermaphroditism
80184	CEP290	HP:0000028	Cryptorchidism
80184	CEP290	HP:0000007	Autosomal recessive inheritance
80184	CEP290	HP:0000003	Multicystic kidney dysplasia
80184	CEP290	HP:0001305	Dandy-Walker malformation
80184	CEP290	HP:0001320	Cerebellar vermis hypoplasia
80184	CEP290	HP:0002650	Scoliosis
80184	CEP290	HP:0002612	Congenital hepatic fibrosis
80184	CEP290	HP:0000175	Cleft palate
80184	CEP290	HP:0000135	Hypogonadism
80184	CEP290	HP:0007663	Reduced visual acuity
80184	CEP290	HP:0002790	Neonatal breathing dysregulation
80184	CEP290	HP:0002789	Tachypnea
80184	CEP290	HP:0000100	Nephrotic syndrome
80184	CEP290	HP:0000112	Nephropathy
80184	CEP290	HP:0000107	Renal cyst
80184	CEP290	HP:0001408	Bile duct proliferation
80184	CEP290	HP:0002085	Occipital encephalocele
80184	CEP290	HP:0002084	Encephalocele
80184	CEP290	HP:0002079	Hypoplasia of the corpus callosum
80184	CEP290	HP:0010442	Polydactyly
80184	CEP290	HP:0010459	True hermaphroditism
80184	CEP290	HP:0002104	Apnea
80184	CEP290	HP:0002167	Abnormality of speech or vocalization
80184	CEP290	HP:0008209	Premature ovarian insufficiency
80184	CEP290	HP:0004727	Impaired renal concentrating ability
80184	CEP290	HP:0010579	Cone-shaped epiphysis
80184	CEP290	HP:0002269	Abnormality of neuronal migration
80184	CEP290	HP:0002251	Aganglionic megacolon
80184	CEP290	HP:0002230	Generalized hirsutism
80184	CEP290	HP:0100732	Pancreatic fibrosis
80184	CEP290	HP:0002335	Agenesis of cerebellar vermis
80184	CEP290	HP:0002323	Anencephaly
80184	CEP290	HP:0010747	Medial flaring of the eyebrow
80184	CEP290	HP:0006870	Lobar holoprosencephaly
80184	CEP290	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
80184	CEP290	HP:0005565	Reduced renal corticomedullary differentiation
80184	CEP290	HP:0012622	Chronic kidney disease
80184	CEP290	HP:0000639	Nystagmus
80184	CEP290	HP:0000648	Optic atrophy
80184	CEP290	HP:0000647	Sclerocornea
80184	CEP290	HP:0000618	Blindness
80184	CEP290	HP:0000612	Iris coloboma
80184	CEP290	HP:0000657	Oculomotor apraxia
80184	CEP290	HP:0004322	Short stature
80184	CEP290	HP:0030680	Abnormality of cardiovascular system morphology
80184	CEP290	HP:0000803	Renal cortical cysts
80184	CEP290	HP:0004374	Hemiplegia/hemiparesis
80184	CEP290	HP:0004348	Abnormality of bone mineral density
80184	CEP290	HP:0000718	Aggressive behavior
80184	CEP290	HP:0000729	Autistic behavior
80184	CEP290	HP:0000708	Atypical behavior
80184	CEP290	HP:0012795	Abnormal optic disc morphology
80184	CEP290	HP:0011463	Childhood onset
80184	CEP290	HP:0004422	Biparietal narrowing
80184	CEP290	HP:0004409	Hyposmia
80184	CEP290	HP:0000864	Abnormality of the hypothalamus-pituitary axis
80184	CEP290	HP:0000822	Hypertension
80184	CEP290	HP:0010295	Aplasia/Hypoplasia of the tongue
80184	CEP290	HP:0003202	Skeletal muscle atrophy
80184	CEP290	HP:0008053	Aplasia/Hypoplasia of the iris
80184	CEP290	HP:0007703	Abnormality of retinal pigmentation
80184	CEP290	HP:0000293	Full cheeks
80184	CEP290	HP:0000276	Long face
80184	CEP290	HP:0000238	Hydrocephalus
80184	CEP290	HP:0000252	Microcephaly
80184	CEP290	HP:0000221	Furrowed tongue
80184	CEP290	HP:0002876	Episodic tachypnea
80184	CEP290	HP:0001562	Oligohydramnios
80184	CEP290	HP:0002871	Central apnea
80184	CEP290	HP:0001511	Intrauterine growth retardation
80184	CEP290	HP:0001513	Obesity
80184	CEP290	HP:0007875	Congenital blindness
80184	CEP290	HP:0006487	Bowing of the long bones
80184	CEP290	HP:0001696	Situs inversus totalis
80184	CEP290	HP:0000365	Hearing impairment
80184	CEP290	HP:0000368	Low-set, posteriorly rotated ears
80184	CEP290	HP:0000340	Sloping forehead
80184	CEP290	HP:0000347	Micrognathia
80184	CEP290	HP:0000316	Hypertelorism
80184	CEP290	HP:0001629	Ventricular septal defect
80184	CEP290	HP:0001631	Atrial septal defect
80184	CEP290	HP:0001737	Pancreatic cysts
80184	CEP290	HP:0000486	Strabismus
80184	CEP290	HP:0000480	Retinal coloboma
80184	CEP290	HP:0000482	Microcornea
80184	CEP290	HP:0000494	Downslanted palpebral fissures
80184	CEP290	HP:0000463	Anteverted nares
80184	CEP290	HP:0000457	Depressed nasal ridge
80184	CEP290	HP:0000470	Short neck
80184	CEP290	HP:0001746	Asplenia
80184	CEP290	HP:0001747	Accessory spleen
80184	CEP290	HP:0000426	Prominent nasal bridge
80184	CEP290	HP:0006706	Cystic liver disease
80184	CEP290	HP:0000518	Cataract
80184	CEP290	HP:0000510	Rod-cone dystrophy
80184	CEP290	HP:0000512	Abnormal electroretinogram
80184	CEP290	HP:0000529	Progressive visual loss
80184	CEP290	HP:0000528	Anophthalmia
80184	CEP290	HP:0001829	Foot polydactyly
80184	CEP290	HP:0000508	Ptosis
80184	CEP290	HP:0000505	Visual impairment
80184	CEP290	HP:0001830	Postaxial foot polydactyly
80184	CEP290	HP:0000580	Pigmentary retinopathy
80184	CEP290	HP:0000563	Keratoconus
80184	CEP290	HP:0000556	Retinal dystrophy
80184	CEP290	HP:0000568	Microphthalmia
80184	CEP290	HP:0000567	Chorioretinal coloboma
80184	CEP290	HP:0000532	Abnormal chorioretinal morphology
80184	CEP290	HP:0001883	Talipes
80185	TTI2	HP:0002486	Myotonia
80185	TTI2	HP:0010864	Intellectual disability, severe
80185	TTI2	HP:0001263	Global developmental delay
80185	TTI2	HP:0002500	Abnormal cerebral white matter morphology
80185	TTI2	HP:0000007	Autosomal recessive inheritance
80185	TTI2	HP:0002650	Scoliosis
80185	TTI2	HP:0000164	Abnormality of the dentition
80185	TTI2	HP:0002751	Kyphoscoliosis
80185	TTI2	HP:0004691	2-3 toe syndactyly
80185	TTI2	HP:0002079	Hypoplasia of the corpus callosum
80185	TTI2	HP:0008209	Premature ovarian insufficiency
80185	TTI2	HP:0003593	Infantile onset
80185	TTI2	HP:0002360	Sleep disturbance
80185	TTI2	HP:0002342	Intellectual disability, moderate
80185	TTI2	HP:0000689	Dental malocclusion
80185	TTI2	HP:0001999	Abnormal facial shape
80185	TTI2	HP:0000664	Synophrys
80185	TTI2	HP:0004322	Short stature
80185	TTI2	HP:0031936	Delayed ability to walk
80185	TTI2	HP:0000752	Hyperactivity
80185	TTI2	HP:0000737	Irritability
80185	TTI2	HP:0000733	Abnormal repetitive mannerisms
80185	TTI2	HP:0000750	Delayed speech and language development
80185	TTI2	HP:0000718	Aggressive behavior
80185	TTI2	HP:0000708	Atypical behavior
80185	TTI2	HP:0040080	Anteverted ears
80185	TTI2	HP:0000252	Microcephaly
80185	TTI2	HP:0000233	Thin vermilion border
80185	TTI2	HP:0000340	Sloping forehead
80185	TTI2	HP:0000400	Macrotia
80185	TTI2	HP:0000486	Strabismus
80185	TTI2	HP:0000490	Deeply set eye
80185	TTI2	HP:0000448	Prominent nose
80185	TTI2	HP:0001822	Hallux valgus
80185	TTI2	HP:0001888	Lymphopenia
80199	FUZ	HP:0002475	Myelomeningocele
80199	FUZ	HP:0002435	Meningocele
80199	FUZ	HP:0002410	Aqueductal stenosis
80199	FUZ	HP:0001274	Agenesis of corpus callosum
80199	FUZ	HP:0001250	Seizure
80199	FUZ	HP:0001252	Hypotonia
80199	FUZ	HP:0001251	Ataxia
80199	FUZ	HP:0001260	Dysarthria
80199	FUZ	HP:0001263	Global developmental delay
80199	FUZ	HP:0001257	Spasticity
80199	FUZ	HP:0002539	Cortical dysplasia
80199	FUZ	HP:0002512	Brain stem compression
80199	FUZ	HP:0000083	Renal insufficiency
80199	FUZ	HP:0000086	Ectopic kidney
80199	FUZ	HP:0000062	Ambiguous genitalia
80199	FUZ	HP:0000076	Vesicoureteral reflux
80199	FUZ	HP:0000073	Ureteral duplication
80199	FUZ	HP:0000069	Abnormality of the ureter
80199	FUZ	HP:0012032	Lipoma
80199	FUZ	HP:0001387	Joint stiffness
80199	FUZ	HP:0000020	Urinary incontinence
80199	FUZ	HP:0000028	Cryptorchidism
80199	FUZ	HP:0000011	Neurogenic bladder
80199	FUZ	HP:0001338	Partial agenesis of the corpus callosum
80199	FUZ	HP:0000006	Autosomal dominant inheritance
80199	FUZ	HP:0002650	Scoliosis
80199	FUZ	HP:0001315	Reduced tendon reflexes
80199	FUZ	HP:0002644	Abnormal pelvic girdle bone morphology
80199	FUZ	HP:0002607	Bowel incontinence
80199	FUZ	HP:0000104	Renal agenesis
80199	FUZ	HP:0002023	Anal atresia
80199	FUZ	HP:0002015	Dysphagia
80199	FUZ	HP:0002089	Pulmonary hypoplasia
80199	FUZ	HP:0002090	Pneumonia
80199	FUZ	HP:0003396	Syringomyelia
80199	FUZ	HP:0003474	Somatic sensory dysfunction
80199	FUZ	HP:0002139	Arrhinencephaly
80199	FUZ	HP:0003484	Upper limb muscle weakness
80199	FUZ	HP:0002119	Ventriculomegaly
80199	FUZ	HP:0002126	Polymicrogyria
80199	FUZ	HP:0002104	Apnea
80199	FUZ	HP:0002179	Opisthotonus
80199	FUZ	HP:0010550	Paraplegia
80199	FUZ	HP:0011867	Abnormal iliac wing morphology
80199	FUZ	HP:0100710	Impulsivity
80199	FUZ	HP:0011968	Feeding difficulties
80199	FUZ	HP:0002385	Paraparesis
80199	FUZ	HP:0001012	Multiple lipomas
80199	FUZ	HP:0002355	Difficulty walking
80199	FUZ	HP:0002323	Anencephaly
80199	FUZ	HP:0002315	Headache
80199	FUZ	HP:0008517	Aplasia/Hypoplasia of the sacrum
80199	FUZ	HP:0009800	Maternal diabetes
80199	FUZ	HP:0008482	Asymmetry of spinal facet joints
80199	FUZ	HP:0008479	Hypoplastic vertebral bodies
80199	FUZ	HP:0002308	Chiari malformation
80199	FUZ	HP:0006824	Cranial nerve paralysis
80199	FUZ	HP:0000639	Nystagmus
80199	FUZ	HP:0004302	Functional motor deficit
80199	FUZ	HP:0005640	Abnormal vertebral segmentation and fusion
80199	FUZ	HP:0030680	Abnormality of cardiovascular system morphology
80199	FUZ	HP:0000739	Anxiety
80199	FUZ	HP:0000712	Emotional lability
80199	FUZ	HP:0000709	Psychosis
80199	FUZ	HP:0009130	Hand muscle atrophy
80199	FUZ	HP:0011441	Abnormal medulla oblongata morphology
80199	FUZ	HP:0003199	Decreased muscle mass
80199	FUZ	HP:0000921	Missing ribs
80199	FUZ	HP:0000822	Hypertension
80199	FUZ	HP:0040010	Small posterior fossa
80199	FUZ	HP:0003298	Spina bifida occulta
80199	FUZ	HP:0010305	Absence of the sacrum
80199	FUZ	HP:0000961	Cyanosis
80199	FUZ	HP:0000960	Sacral dimple
80199	FUZ	HP:0000238	Hydrocephalus
80199	FUZ	HP:0000202	Orofacial cleft
80199	FUZ	HP:0001618	Dysphonia
80199	FUZ	HP:0001612	Weak cry
80199	FUZ	HP:0005348	Inspiratory stridor
80199	FUZ	HP:0001762	Talipes equinovarus
80201	HKDC1	HP:0001133	Constriction of peripheral visual field
80201	HKDC1	HP:0000007	Autosomal recessive inheritance
80201	HKDC1	HP:0003596	Middle age onset
80201	HKDC1	HP:0030528	Paracentral scotoma
80201	HKDC1	HP:0000662	Nyctalopia
80201	HKDC1	HP:0011462	Young adult onset
80201	HKDC1	HP:0000505	Visual impairment
80201	HKDC1	HP:0000580	Pigmentary retinopathy
80204	FBXO11	HP:0001182	Tapered finger
80204	FBXO11	HP:0008551	Microtia
80204	FBXO11	HP:0001290	Generalized hypotonia
80204	FBXO11	HP:0001250	Seizure
80204	FBXO11	HP:0001249	Intellectual disability
80204	FBXO11	HP:0001263	Global developmental delay
80204	FBXO11	HP:0000098	Tall stature
80204	FBXO11	HP:0001357	Plagiocephaly
80204	FBXO11	HP:0000006	Autosomal dominant inheritance
80204	FBXO11	HP:0000193	Bifid uvula
80204	FBXO11	HP:0000160	Narrow mouth
80204	FBXO11	HP:0000175	Cleft palate
80204	FBXO11	HP:0410030	Cleft lip
80204	FBXO11	HP:0002719	Recurrent infections
80204	FBXO11	HP:0002714	Downturned corners of mouth
80204	FBXO11	HP:0002360	Sleep disturbance
80204	FBXO11	HP:0200055	Small hand
80204	FBXO11	HP:0001999	Abnormal facial shape
80204	FBXO11	HP:0004322	Short stature
80204	FBXO11	HP:0031936	Delayed ability to walk
80204	FBXO11	HP:0000752	Hyperactivity
80204	FBXO11	HP:0000736	Short attention span
80204	FBXO11	HP:0000750	Delayed speech and language development
80204	FBXO11	HP:0000256	Macrocephaly
80204	FBXO11	HP:0000276	Long face
80204	FBXO11	HP:0030084	Clinodactyly
80204	FBXO11	HP:0000252	Microcephaly
80204	FBXO11	HP:0000232	Everted lower lip vermilion
80204	FBXO11	HP:0001513	Obesity
80204	FBXO11	HP:0000358	Posteriorly rotated ears
80204	FBXO11	HP:0000369	Low-set ears
80204	FBXO11	HP:0000343	Long philtrum
80204	FBXO11	HP:0000348	High forehead
80204	FBXO11	HP:0000316	Hypertelorism
80204	FBXO11	HP:0000486	Strabismus
80204	FBXO11	HP:0000494	Downslanted palpebral fissures
80204	FBXO11	HP:0000490	Deeply set eye
80204	FBXO11	HP:0001773	Short foot
80204	FBXO11	HP:0001763	Pes planus
80204	FBXO11	HP:0000527	Long eyelashes
80204	FBXO11	HP:0001852	Sandal gap
80204	FBXO11	HP:0000540	Hypermetropia
80206	FHOD3	HP:0001297	Stroke
80206	FHOD3	HP:0000006	Autosomal dominant inheritance
80206	FHOD3	HP:0031295	Left atrial enlargement
80206	FHOD3	HP:0003581	Adult onset
80206	FHOD3	HP:0032092	Left ventricular outflow tract obstruction
80206	FHOD3	HP:4000004	Myocardial late gadolinium enhancement
80206	FHOD3	HP:0012664	Reduced left ventricular ejection fraction
80206	FHOD3	HP:0031992	Apical hypertrophic cardiomyopathy
80206	FHOD3	HP:0005110	Atrial fibrillation
80206	FHOD3	HP:0005157	Concentric hypertrophic cardiomyopathy
80206	FHOD3	HP:0001670	Asymmetric septal hypertrophy
80206	FHOD3	HP:0001645	Sudden cardiac death
80206	FHOD3	HP:0031656	Systolic anterior motion of the mitral valve
80207	OPA3	HP:0001172	Abnormal thumb morphology
80207	OPA3	HP:0010924	Posterior cortical cataract
80207	OPA3	HP:0010923	Anterior subcapsular cataract
80207	OPA3	HP:0002403	Positive Romberg sign
80207	OPA3	HP:0001272	Cerebellar atrophy
80207	OPA3	HP:0001288	Gait disturbance
80207	OPA3	HP:0001284	Areflexia
80207	OPA3	HP:0001251	Ataxia
80207	OPA3	HP:0001249	Intellectual disability
80207	OPA3	HP:0001266	Choreoathetosis
80207	OPA3	HP:0001260	Dysarthria
80207	OPA3	HP:0001257	Spasticity
80207	OPA3	HP:0002522	Areflexia of lower limbs
80207	OPA3	HP:0001377	Limited elbow extension
80207	OPA3	HP:0001347	Hyperreflexia
80207	OPA3	HP:0000007	Autosomal recessive inheritance
80207	OPA3	HP:0001337	Tremor
80207	OPA3	HP:0000006	Autosomal dominant inheritance
80207	OPA3	HP:0001315	Reduced tendon reflexes
80207	OPA3	HP:0007663	Reduced visual acuity
80207	OPA3	HP:0006248	Limited wrist movement
80207	OPA3	HP:0003344	3-Methylglutaric aciduria
80207	OPA3	HP:0100543	Cognitive impairment
80207	OPA3	HP:0003394	Muscle spasm
80207	OPA3	HP:0002072	Chorea
80207	OPA3	HP:0002071	Abnormality of extrapyramidal motor function
80207	OPA3	HP:0009468	Deviation of the 2nd finger
80207	OPA3	HP:0003474	Somatic sensory dysfunction
80207	OPA3	HP:0003487	Babinski sign
80207	OPA3	HP:0003438	Absent Achilles reflex
80207	OPA3	HP:0002174	Postural tremor
80207	OPA3	HP:0010522	Dyslexia
80207	OPA3	HP:0003401	Paresthesia
80207	OPA3	HP:0003535	3-Methylglutaconic aciduria
80207	OPA3	HP:0007076	Extrapyramidal muscular rigidity
80207	OPA3	HP:0002322	Resting tremor
80207	OPA3	HP:0002317	Unsteady gait
80207	OPA3	HP:0002313	Spastic paraparesis
80207	OPA3	HP:0000639	Nystagmus
80207	OPA3	HP:0000648	Optic atrophy
80207	OPA3	HP:0000642	Red-green dyschromatopsia
80207	OPA3	HP:0000618	Blindness
80207	OPA3	HP:0000603	Central scotoma
80207	OPA3	HP:0007795	Anterior cortical cataract
80207	OPA3	HP:0007787	Posterior subcapsular cataract
80207	OPA3	HP:0000365	Hearing impairment
80207	OPA3	HP:0007976	Cerulean cataract
80207	OPA3	HP:0001761	Pes cavus
80207	OPA3	HP:0000518	Cataract
80207	OPA3	HP:0000505	Visual impairment
80207	OPA3	HP:0000575	Scotoma
80207	OPA3	HP:0012531	Pain
80207	OPA3	HP:0000552	Tritanomaly
80207	OPA3	HP:0000543	Optic disc pallor
80208	SPG11	HP:0002483	Bulbar signs
80208	SPG11	HP:0001152	Saccadic smooth pursuit
80208	SPG11	HP:0002460	Distal muscle weakness
80208	SPG11	HP:0007256	Abnormal pyramidal sign
80208	SPG11	HP:0002425	Anarthria
80208	SPG11	HP:0003722	Neck flexor weakness
80208	SPG11	HP:0002403	Positive Romberg sign
80208	SPG11	HP:0003701	Proximal muscle weakness
80208	SPG11	HP:0001276	Hypertonia
80208	SPG11	HP:0001278	Orthostatic hypotension
80208	SPG11	HP:0001274	Agenesis of corpus callosum
80208	SPG11	HP:0001268	Mental deterioration
80208	SPG11	HP:0002599	Head titubation
80208	SPG11	HP:0001288	Gait disturbance
80208	SPG11	HP:0001256	Intellectual disability, mild
80208	SPG11	HP:0001250	Seizure
80208	SPG11	HP:0001251	Ataxia
80208	SPG11	HP:0001249	Intellectual disability
80208	SPG11	HP:0001264	Spastic diplegia
80208	SPG11	HP:0001260	Dysarthria
80208	SPG11	HP:0001263	Global developmental delay
80208	SPG11	HP:0001258	Spastic paraplegia
80208	SPG11	HP:0001257	Spasticity
80208	SPG11	HP:0001239	Wrist flexion contracture
80208	SPG11	HP:0007350	Hyperreflexia in upper limbs
80208	SPG11	HP:0007354	Amyotrophic lateral sclerosis
80208	SPG11	HP:0007340	Lower limb muscle weakness
80208	SPG11	HP:0002540	Inability to walk
80208	SPG11	HP:0002544	Retrocollis
80208	SPG11	HP:0002518	Abnormal periventricular white matter morphology
80208	SPG11	HP:0002530	Axial dystonia
80208	SPG11	HP:0002522	Areflexia of lower limbs
80208	SPG11	HP:0002500	Abnormal cerebral white matter morphology
80208	SPG11	HP:0012048	Oromandibular dystonia
80208	SPG11	HP:0000020	Urinary incontinence
80208	SPG11	HP:0001348	Brisk reflexes
80208	SPG11	HP:0001347	Hyperreflexia
80208	SPG11	HP:0001332	Dystonia
80208	SPG11	HP:0033725	Thin corpus callosum
80208	SPG11	HP:0001328	Specific learning disability
80208	SPG11	HP:0001324	Muscle weakness
80208	SPG11	HP:0000012	Urinary urgency
80208	SPG11	HP:0000007	Autosomal recessive inheritance
80208	SPG11	HP:0002650	Scoliosis
80208	SPG11	HP:0001317	Abnormal cerebellum morphology
80208	SPG11	HP:0001300	Parkinsonism
80208	SPG11	HP:0008994	Proximal muscle weakness in lower limbs
80208	SPG11	HP:0008997	Proximal muscle weakness in upper limbs
80208	SPG11	HP:0008981	Calf muscle hypertrophy
80208	SPG11	HP:0008959	Distal upper limb muscle weakness
80208	SPG11	HP:0008956	Proximal lower limb amyotrophy
80208	SPG11	HP:0008944	Distal lower limb amyotrophy
80208	SPG11	HP:0002751	Kyphoscoliosis
80208	SPG11	HP:0002747	Respiratory insufficiency due to muscle weakness
80208	SPG11	HP:0002015	Dysphagia
80208	SPG11	HP:0100543	Cognitive impairment
80208	SPG11	HP:0002064	Spastic gait
80208	SPG11	HP:0002061	Lower limb spasticity
80208	SPG11	HP:0003393	Thenar muscle atrophy
80208	SPG11	HP:0002079	Hypoplasia of the corpus callosum
80208	SPG11	HP:0002072	Chorea
80208	SPG11	HP:0002071	Abnormality of extrapyramidal motor function
80208	SPG11	HP:0003380	Decreased number of peripheral myelinated nerve fibers
80208	SPG11	HP:0003477	Peripheral axonal neuropathy
80208	SPG11	HP:0003487	Babinski sign
80208	SPG11	HP:0003482	EMG: axonal abnormality
80208	SPG11	HP:0002120	Cerebral cortical atrophy
80208	SPG11	HP:0003429	CNS hypomyelination
80208	SPG11	HP:0003445	EMG: neuropathic changes
80208	SPG11	HP:0002191	Progressive spasticity
80208	SPG11	HP:0002169	Clonus
80208	SPG11	HP:0002166	Impaired vibration sensation in the lower limbs
80208	SPG11	HP:0002167	Abnormality of speech or vocalization
80208	SPG11	HP:0002179	Opisthotonus
80208	SPG11	HP:0002174	Postural tremor
80208	SPG11	HP:0003596	Middle age onset
80208	SPG11	HP:0007067	Distal peripheral sensory neuropathy
80208	SPG11	HP:0002385	Paraparesis
80208	SPG11	HP:0002380	Fasciculations
80208	SPG11	HP:0002395	Lower limb hyperreflexia
80208	SPG11	HP:0002366	Abnormal lower motor neuron morphology
80208	SPG11	HP:0003693	Distal amyotrophy
80208	SPG11	HP:0003676	Progressive
80208	SPG11	HP:0001004	Lymphedema
80208	SPG11	HP:0002355	Difficulty walking
80208	SPG11	HP:0002354	Memory impairment
80208	SPG11	HP:0003677	Slowly progressive
80208	SPG11	HP:0002314	Degeneration of the lateral corticospinal tracts
80208	SPG11	HP:0025058	Hypothalamic atrophy
80208	SPG11	HP:0007141	Sensorimotor neuropathy
80208	SPG11	HP:0003621	Juvenile onset
80208	SPG11	HP:0007183	Focal T2 hyperintense basal ganglia lesion
80208	SPG11	HP:0007178	Motor polyneuropathy
80208	SPG11	HP:0006827	Atrophy of the spinal cord
80208	SPG11	HP:0006886	Impaired distal vibration sensation
80208	SPG11	HP:0000640	Gaze-evoked nystagmus
80208	SPG11	HP:0000639	Nystagmus
80208	SPG11	HP:0000605	Supranuclear gaze palsy
80208	SPG11	HP:0000608	Macular degeneration
80208	SPG11	HP:0030455	Abnormality of pattern visual evoked potentials
80208	SPG11	HP:0009053	Distal lower limb muscle weakness
80208	SPG11	HP:0009055	Generalized limb muscle atrophy
80208	SPG11	HP:0009027	Foot dorsiflexor weakness
80208	SPG11	HP:0006986	Upper limb spasticity
80208	SPG11	HP:0004326	Cachexia
80208	SPG11	HP:0031960	Arm dystonia
80208	SPG11	HP:0006956	Lateral ventricle dilatation
80208	SPG11	HP:0006913	Frontal cortical atrophy
80208	SPG11	HP:0031936	Delayed ability to walk
80208	SPG11	HP:0000763	Sensory neuropathy
80208	SPG11	HP:0000736	Short attention span
80208	SPG11	HP:0000712	Emotional lability
80208	SPG11	HP:0000726	Dementia
80208	SPG11	HP:0000709	Psychosis
80208	SPG11	HP:0000708	Atypical behavior
80208	SPG11	HP:0011471	Gastrostomy tube feeding in infancy
80208	SPG11	HP:0011463	Childhood onset
80208	SPG11	HP:0011462	Young adult onset
80208	SPG11	HP:0011449	Knee clonus
80208	SPG11	HP:0011448	Ankle clonus
80208	SPG11	HP:0005750	Lower-limb joint contracture
80208	SPG11	HP:0100360	Upper-limb joint contracture
80208	SPG11	HP:0030890	Hyperintensity of cerebral white matter on MRI
80208	SPG11	HP:0003202	Skeletal muscle atrophy
80208	SPG11	HP:0045007	Abnormal substantia nigra morphology
80208	SPG11	HP:0100295	Muscle fiber atrophy
80208	SPG11	HP:0006466	Ankle flexion contracture
80208	SPG11	HP:0000252	Microcephaly
80208	SPG11	HP:0025502	Overweight
80208	SPG11	HP:0002839	Urinary bladder sphincter dysfunction
80208	SPG11	HP:0030051	Tip-toe gait
80208	SPG11	HP:0001513	Obesity
80208	SPG11	HP:0002936	Distal sensory impairment
80208	SPG11	HP:0000486	Strabismus
80208	SPG11	HP:0001761	Pes cavus
80208	SPG11	HP:0000505	Visual impairment
80208	SPG11	HP:0000546	Retinal degeneration
80210	ARMC9	HP:0001162	Postaxial hand polydactyly
80210	ARMC9	HP:0001161	Hand polydactyly
80210	ARMC9	HP:0002419	Molar tooth sign on MRI
80210	ARMC9	HP:0001272	Cerebellar atrophy
80210	ARMC9	HP:0001274	Agenesis of corpus callosum
80210	ARMC9	HP:0001288	Gait disturbance
80210	ARMC9	HP:0001250	Seizure
80210	ARMC9	HP:0001252	Hypotonia
80210	ARMC9	HP:0001251	Ataxia
80210	ARMC9	HP:0001249	Intellectual disability
80210	ARMC9	HP:0001263	Global developmental delay
80210	ARMC9	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
80210	ARMC9	HP:0002553	Highly arched eyebrow
80210	ARMC9	HP:0008872	Feeding difficulties in infancy
80210	ARMC9	HP:0000007	Autosomal recessive inheritance
80210	ARMC9	HP:0001337	Tremor
80210	ARMC9	HP:0001305	Dandy-Walker malformation
80210	ARMC9	HP:0001320	Cerebellar vermis hypoplasia
80210	ARMC9	HP:0002650	Scoliosis
80210	ARMC9	HP:0007663	Reduced visual acuity
80210	ARMC9	HP:0002793	Abnormal pattern of respiration
80210	ARMC9	HP:0002789	Tachypnea
80210	ARMC9	HP:0003312	Abnormal form of the vertebral bodies
80210	ARMC9	HP:0002084	Encephalocele
80210	ARMC9	HP:0002119	Ventriculomegaly
80210	ARMC9	HP:0002126	Polymicrogyria
80210	ARMC9	HP:0002104	Apnea
80210	ARMC9	HP:0002269	Abnormality of neuronal migration
80210	ARMC9	HP:0003577	Congenital onset
80210	ARMC9	HP:0002251	Aganglionic megacolon
80210	ARMC9	HP:0002282	Gray matter heterotopia
80210	ARMC9	HP:0020185	Superior cerebellar dysplasia
80210	ARMC9	HP:0000639	Nystagmus
80210	ARMC9	HP:0000612	Iris coloboma
80210	ARMC9	HP:0000657	Oculomotor apraxia
80210	ARMC9	HP:0030680	Abnormality of cardiovascular system morphology
80210	ARMC9	HP:0000750	Delayed speech and language development
80210	ARMC9	HP:0004422	Biparietal narrowing
80210	ARMC9	HP:0000864	Abnormality of the hypothalamus-pituitary axis
80210	ARMC9	HP:0000276	Long face
80210	ARMC9	HP:0000238	Hydrocephalus
80210	ARMC9	HP:0002876	Episodic tachypnea
80210	ARMC9	HP:0000202	Orofacial cleft
80210	ARMC9	HP:0001696	Situs inversus totalis
80210	ARMC9	HP:0000369	Low-set ears
80210	ARMC9	HP:0000486	Strabismus
80210	ARMC9	HP:0000496	Abnormality of eye movement
80210	ARMC9	HP:0000463	Anteverted nares
80210	ARMC9	HP:0000426	Prominent nasal bridge
80210	ARMC9	HP:0001829	Foot polydactyly
80210	ARMC9	HP:0000508	Ptosis
80210	ARMC9	HP:0000556	Retinal dystrophy
80216	ALPK1	HP:0000006	Autosomal dominant inheritance
80216	ALPK1	HP:0002076	Migraine
80216	ALPK1	HP:0001025	Urticaria
80216	ALPK1	HP:0003621	Juvenile onset
80216	ALPK1	HP:0001954	Recurrent fever
80216	ALPK1	HP:0000970	Anhidrosis
80216	ALPK1	HP:0001744	Splenomegaly
80216	ALPK1	HP:0000572	Visual loss
80216	ALPK1	HP:0000548	Cone/cone-rod dystrophy
80216	ALPK1	HP:0001876	Pancytopenia
80217	CFAP43	HP:0001288	Gait disturbance
80217	CFAP43	HP:0001263	Global developmental delay
80217	CFAP43	HP:0000020	Urinary incontinence
80217	CFAP43	HP:0000007	Autosomal recessive inheritance
80217	CFAP43	HP:0000006	Autosomal dominant inheritance
80217	CFAP43	HP:0002607	Bowel incontinence
80217	CFAP43	HP:0032558	Absent sperm flagella
80217	CFAP43	HP:0032559	Short sperm flagella
80217	CFAP43	HP:0032560	Coiled sperm flagella
80217	CFAP43	HP:0002343	Normal pressure hydrocephalus
80217	CFAP43	HP:0000726	Dementia
80217	CFAP43	HP:0011462	Young adult onset
80217	CFAP43	HP:0003251	Male infertility
80217	CFAP43	HP:0012207	Reduced sperm motility
80222	TARS2	HP:0001250	Seizure
80222	TARS2	HP:0001263	Global developmental delay
80222	TARS2	HP:0002509	Limb hypertonia
80222	TARS2	HP:0003811	Neonatal death
80222	TARS2	HP:0001397	Hepatic steatosis
80222	TARS2	HP:0000007	Autosomal recessive inheritance
80222	TARS2	HP:0008936	Axial hypotonia
80222	TARS2	HP:0003348	Hyperalaninemia
80222	TARS2	HP:0011813	Increased cerebral lipofuscin
80222	TARS2	HP:0002079	Hypoplasia of the corpus callosum
80222	TARS2	HP:0002059	Cerebral atrophy
80222	TARS2	HP:0002151	Increased serum lactate
80222	TARS2	HP:0003593	Infantile onset
80222	TARS2	HP:0003577	Congenital onset
80222	TARS2	HP:0008358	Hyperprolinemia
80224	NUBPL	HP:0025116	Fetal distress
80224	NUBPL	HP:0002490	Increased CSF lactate
80224	NUBPL	HP:0002465	Poor speech
80224	NUBPL	HP:0001138	Optic neuropathy
80224	NUBPL	HP:0002421	Poor head control
80224	NUBPL	HP:0002415	Leukodystrophy
80224	NUBPL	HP:0003737	Mitochondrial myopathy
80224	NUBPL	HP:0001298	Encephalopathy
80224	NUBPL	HP:0001254	Lethargy
80224	NUBPL	HP:0001252	Hypotonia
80224	NUBPL	HP:0001251	Ataxia
80224	NUBPL	HP:0001260	Dysarthria
80224	NUBPL	HP:0001263	Global developmental delay
80224	NUBPL	HP:0001257	Spasticity
80224	NUBPL	HP:0001347	Hyperreflexia
80224	NUBPL	HP:0001324	Muscle weakness
80224	NUBPL	HP:0000007	Autosomal recessive inheritance
80224	NUBPL	HP:0001317	Abnormal cerebellum morphology
80224	NUBPL	HP:0000114	Proximal tubulopathy
80224	NUBPL	HP:0002013	Vomiting
80224	NUBPL	HP:0002093	Respiratory insufficiency
80224	NUBPL	HP:0003487	Babinski sign
80224	NUBPL	HP:0002121	Generalized non-motor (absence) seizure
80224	NUBPL	HP:0011923	Decreased activity of mitochondrial complex I
80224	NUBPL	HP:0002194	Delayed gross motor development
80224	NUBPL	HP:0002240	Hepatomegaly
80224	NUBPL	HP:0003542	Increased serum pyruvate
80224	NUBPL	HP:0011968	Feeding difficulties
80224	NUBPL	HP:0008316	Abnormal mitochondria in muscle tissue
80224	NUBPL	HP:0002355	Difficulty walking
80224	NUBPL	HP:0002352	Leukoencephalopathy
80224	NUBPL	HP:0000639	Nystagmus
80224	NUBPL	HP:0000618	Blindness
80224	NUBPL	HP:0001943	Hypoglycemia
80224	NUBPL	HP:0012748	Focal T2 hyperintense brainstem lesion
80224	NUBPL	HP:0011463	Childhood onset
80224	NUBPL	HP:0003198	Myopathy
80224	NUBPL	HP:0003128	Lactic acidosis
80224	NUBPL	HP:0000819	Diabetes mellitus
80224	NUBPL	HP:0000817	Reduced eye contact
80224	NUBPL	HP:0003200	Ragged-red muscle fibers
80224	NUBPL	HP:0007704	Paroxysmal involuntary eye movements
80224	NUBPL	HP:0000252	Microcephaly
80224	NUBPL	HP:0001508	Failure to thrive
80224	NUBPL	HP:0001511	Intrauterine growth retardation
80224	NUBPL	HP:0001510	Growth delay
80224	NUBPL	HP:0001639	Hypertrophic cardiomyopathy
80224	NUBPL	HP:0000407	Sensorineural hearing impairment
80224	NUBPL	HP:0000486	Strabismus
80224	NUBPL	HP:0000508	Ptosis
80224	NUBPL	HP:0000543	Optic disc pallor
80232	WDR26	HP:0025186	Marcus Gunn jaw winking synkinesis
80232	WDR26	HP:0001250	Seizure
80232	WDR26	HP:0001252	Hypotonia
80232	WDR26	HP:0001249	Intellectual disability
80232	WDR26	HP:0001263	Global developmental delay
80232	WDR26	HP:0008762	Repetitive compulsive behavior
80232	WDR26	HP:0410263	Brain imaging abnormality
80232	WDR26	HP:0025336	Delayed ability to sit
80232	WDR26	HP:0001385	Hip dysplasia
80232	WDR26	HP:0012020	Right aortic arch
80232	WDR26	HP:0008872	Feeding difficulties in infancy
80232	WDR26	HP:0001344	Absent speech
80232	WDR26	HP:0000006	Autosomal dominant inheritance
80232	WDR26	HP:0001302	Pachygyria
80232	WDR26	HP:0001321	Cerebellar hypoplasia
80232	WDR26	HP:0012172	Stereotypical body rocking
80232	WDR26	HP:0000175	Cleft palate
80232	WDR26	HP:0000168	Abnormality of the gingiva
80232	WDR26	HP:0002779	Tracheomalacia
80232	WDR26	HP:0002020	Gastroesophageal reflux
80232	WDR26	HP:0002019	Constipation
80232	WDR26	HP:0002069	Bilateral tonic-clonic seizure
80232	WDR26	HP:0002066	Gait ataxia
80232	WDR26	HP:0002064	Spastic gait
80232	WDR26	HP:0002079	Hypoplasia of the corpus callosum
80232	WDR26	HP:0002121	Generalized non-motor (absence) seizure
80232	WDR26	HP:0002119	Ventriculomegaly
80232	WDR26	HP:0002136	Broad-based gait
80232	WDR26	HP:0011842	Abnormal skeletal morphology
80232	WDR26	HP:0003593	Infantile onset
80232	WDR26	HP:0011968	Feeding difficulties
80232	WDR26	HP:0430028	Hyperplasia of the maxilla
80232	WDR26	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
80232	WDR26	HP:0010803	Everted upper lip vermilion
80232	WDR26	HP:0010800	Absent cupid's bow
80232	WDR26	HP:0010740	Osteopathia striata
80232	WDR26	HP:0006808	Cerebral hypomyelination
80232	WDR26	HP:0006897	Abducens palsy
80232	WDR26	HP:0000646	Amblyopia
80232	WDR26	HP:0011344	Severe global developmental delay
80232	WDR26	HP:0012683	Pineal cyst
80232	WDR26	HP:0011342	Mild global developmental delay
80232	WDR26	HP:0000687	Widely spaced teeth
80232	WDR26	HP:0031936	Delayed ability to walk
80232	WDR26	HP:0000733	Abnormal repetitive mannerisms
80232	WDR26	HP:0000750	Delayed speech and language development
80232	WDR26	HP:0000729	Autistic behavior
80232	WDR26	HP:0011471	Gastrostomy tube feeding in infancy
80232	WDR26	HP:0005750	Lower-limb joint contracture
80232	WDR26	HP:0040115	Abnormal Eustachian tube morphology
80232	WDR26	HP:0040082	Happy demeanor
80232	WDR26	HP:0000280	Coarse facial features
80232	WDR26	HP:0000293	Full cheeks
80232	WDR26	HP:0000252	Microcephaly
80232	WDR26	HP:0000215	Thick upper lip vermilion
80232	WDR26	HP:0001508	Failure to thrive
80232	WDR26	HP:0007800	Increased axial length of the globe
80232	WDR26	HP:0000347	Micrognathia
80232	WDR26	HP:0001629	Ventricular septal defect
80232	WDR26	HP:0005338	Sparse lateral eyebrow
80232	WDR26	HP:0000403	Recurrent otitis media
80232	WDR26	HP:0005274	Prominent nasal tip
80232	WDR26	HP:0005280	Depressed nasal bridge
80232	WDR26	HP:0000486	Strabismus
80232	WDR26	HP:0000463	Anteverted nares
80232	WDR26	HP:0001761	Pes cavus
80232	WDR26	HP:0001840	Metatarsus adductus
80232	WDR26	HP:0000540	Hypermetropia
80232	WDR26	HP:0000545	Myopia
80254	CEP63	HP:0010864	Intellectual disability, severe
80254	CEP63	HP:0001274	Agenesis of corpus callosum
80254	CEP63	HP:0001249	Intellectual disability
80254	CEP63	HP:0001263	Global developmental delay
80254	CEP63	HP:0007333	Hypoplasia of the frontal lobes
80254	CEP63	HP:0000076	Vesicoureteral reflux
80254	CEP63	HP:0001347	Hyperreflexia
80254	CEP63	HP:0000007	Autosomal recessive inheritance
80254	CEP63	HP:0001302	Pachygyria
80254	CEP63	HP:0000122	Unilateral renal agenesis
80254	CEP63	HP:0002119	Ventriculomegaly
80254	CEP63	HP:0003577	Congenital onset
80254	CEP63	HP:0002282	Gray matter heterotopia
80254	CEP63	HP:0004322	Short stature
80254	CEP63	HP:0000750	Delayed speech and language development
80254	CEP63	HP:0011451	Primary microcephaly
80254	CEP63	HP:0003103	Abnormal cortical bone morphology
80254	CEP63	HP:0000252	Microcephaly
80254	CEP63	HP:0000219	Thin upper lip vermilion
80254	CEP63	HP:0001510	Growth delay
80254	CEP63	HP:0000340	Sloping forehead
80254	CEP63	HP:0000582	Upslanted palpebral fissure
80267	EDEM3	HP:0001252	Hypotonia
80267	EDEM3	HP:0001249	Intellectual disability
80267	EDEM3	HP:0001263	Global developmental delay
80267	EDEM3	HP:0000034	Hydrocele testis
80267	EDEM3	HP:0000007	Autosomal recessive inheritance
80267	EDEM3	HP:0000175	Cleft palate
80267	EDEM3	HP:0002020	Gastroesophageal reflux
80267	EDEM3	HP:0002162	Low posterior hairline
80267	EDEM3	HP:0003593	Infantile onset
80267	EDEM3	HP:0002280	Enlarged cisterna magna
80267	EDEM3	HP:0001052	Nevus flammeus
80267	EDEM3	HP:0009765	Low hanging columella
80267	EDEM3	HP:0000629	Periorbital fullness
80267	EDEM3	HP:0006970	Periventricular leukomalacia
80267	EDEM3	HP:0011470	Nasogastric tube feeding in infancy
80267	EDEM3	HP:0045025	Narrow palpebral fissure
80267	EDEM3	HP:0000286	Epicanthus
80267	EDEM3	HP:0000278	Retrognathia
80267	EDEM3	HP:0000219	Thin upper lip vermilion
80267	EDEM3	HP:0000218	High palate
80267	EDEM3	HP:0000391	Thickened helices
80267	EDEM3	HP:0012347	Abnormal protein N-linked glycosylation
80267	EDEM3	HP:0000369	Low-set ears
80267	EDEM3	HP:0000316	Hypertelorism
80267	EDEM3	HP:0000322	Short philtrum
80267	EDEM3	HP:0000483	Astigmatism
80267	EDEM3	HP:0000486	Strabismus
80267	EDEM3	HP:0012471	Thick vermilion border
80267	EDEM3	HP:0000494	Downslanted palpebral fissures
80267	EDEM3	HP:0000490	Deeply set eye
80267	EDEM3	HP:0000414	Bulbous nose
80267	EDEM3	HP:0000411	Protruding ear
80267	EDEM3	HP:0001762	Talipes equinovarus
80267	EDEM3	HP:0000431	Wide nasal bridge
80267	EDEM3	HP:0000430	Underdeveloped nasal alae
80267	EDEM3	HP:0000508	Ptosis
80270	HSD3B7	HP:0002570	Steatorrhea
80270	HSD3B7	HP:0001399	Hepatic failure
80270	HSD3B7	HP:0001394	Cirrhosis
80270	HSD3B7	HP:0000007	Autosomal recessive inheritance
80270	HSD3B7	HP:0002630	Fat malabsorption
80270	HSD3B7	HP:0001406	Intrahepatic cholestasis
80270	HSD3B7	HP:0002748	Rickets
80270	HSD3B7	HP:0002024	Malabsorption
80270	HSD3B7	HP:0002014	Diarrhea
80270	HSD3B7	HP:0002240	Hepatomegaly
80270	HSD3B7	HP:0002239	Gastrointestinal hemorrhage
80270	HSD3B7	HP:0200084	Giant cell hepatitis
80270	HSD3B7	HP:0011985	Acholic stools
80270	HSD3B7	HP:0009830	Peripheral neuropathy
80270	HSD3B7	HP:0001080	Biliary tract abnormality
80270	HSD3B7	HP:0003623	Neonatal onset
80270	HSD3B7	HP:0001928	Abnormality of coagulation
80270	HSD3B7	HP:0000662	Nyctalopia
80270	HSD3B7	HP:0003146	Hypocholesterolemia
80270	HSD3B7	HP:0003256	Abnormality of the coagulation cascade
80270	HSD3B7	HP:0000989	Pruritus
80270	HSD3B7	HP:0000952	Jaundice
80270	HSD3B7	HP:0000939	Osteoporosis
80270	HSD3B7	HP:0001508	Failure to thrive
80270	HSD3B7	HP:0006566	Neonatal cholestatic liver disease
80270	HSD3B7	HP:0002910	Elevated hepatic transaminase
80270	HSD3B7	HP:0002908	Conjugated hyperbilirubinemia
80270	HSD3B7	HP:0001744	Splenomegaly
80270	HSD3B7	HP:0001892	Abnormal bleeding
80308	FLAD1	HP:0003701	Proximal muscle weakness
80308	FLAD1	HP:0001290	Generalized hypotonia
80308	FLAD1	HP:0000007	Autosomal recessive inheritance
80308	FLAD1	HP:0002650	Scoliosis
80308	FLAD1	HP:0002015	Dysphagia
80308	FLAD1	HP:0002093	Respiratory insufficiency
80308	FLAD1	HP:0004755	Supraventricular tachycardia
80308	FLAD1	HP:0003546	Exercise intolerance
80308	FLAD1	HP:0011968	Feeding difficulties
80308	FLAD1	HP:0001992	Organic aciduria
80308	FLAD1	HP:0003198	Myopathy
80308	FLAD1	HP:0003236	Elevated circulating creatine kinase concentration
80308	FLAD1	HP:0001638	Cardiomyopathy
80308	FLAD1	HP:0012548	Fatty replacement of skeletal muscle
80311	KLHL15	HP:0001250	Seizure
80311	KLHL15	HP:0001249	Intellectual disability
80311	KLHL15	HP:0001263	Global developmental delay
80311	KLHL15	HP:0008689	Bilateral cryptorchidism
80311	KLHL15	HP:0000054	Micropenis
80311	KLHL15	HP:0001344	Absent speech
80311	KLHL15	HP:0000154	Wide mouth
80311	KLHL15	HP:0001419	X-linked recessive inheritance
80311	KLHL15	HP:0002126	Polymicrogyria
80311	KLHL15	HP:0004279	Short palm
80311	KLHL15	HP:0006956	Lateral ventricle dilatation
80311	KLHL15	HP:0031936	Delayed ability to walk
80311	KLHL15	HP:0000750	Delayed speech and language development
80311	KLHL15	HP:0000280	Coarse facial features
80311	KLHL15	HP:0000463	Anteverted nares
80320	SP6	HP:0000006	Autosomal dominant inheritance
80320	SP6	HP:0006297	Enamel hypoplasia
80320	SP6	HP:0000705	Amelogenesis imperfecta
80324	PUS1	HP:0003737	Mitochondrial myopathy
80324	PUS1	HP:0001290	Generalized hypotonia
80324	PUS1	HP:0001252	Hypotonia
80324	PUS1	HP:0001249	Intellectual disability
80324	PUS1	HP:0001388	Joint laxity
80324	PUS1	HP:0001324	Muscle weakness
80324	PUS1	HP:0000007	Autosomal recessive inheritance
80324	PUS1	HP:0002650	Scoliosis
80324	PUS1	HP:0012132	Erythroid hyperplasia
80324	PUS1	HP:0003307	Hyperlordosis
80324	PUS1	HP:0003323	Progressive muscle weakness
80324	PUS1	HP:0002091	Restrictive ventilatory defect
80324	PUS1	HP:0003391	Gowers sign
80324	PUS1	HP:0002151	Increased serum lactate
80324	PUS1	HP:0003457	EMG abnormality
80324	PUS1	HP:0011923	Decreased activity of mitochondrial complex I
80324	PUS1	HP:0003593	Infantile onset
80324	PUS1	HP:0003546	Exercise intolerance
80324	PUS1	HP:0009743	Distichiasis
80324	PUS1	HP:0008347	Decreased activity of mitochondrial complex IV
80324	PUS1	HP:0020081	Pappenheimer bodies
80324	PUS1	HP:0003691	Scapular winging
80324	PUS1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
80324	PUS1	HP:0001924	Sideroblastic anemia
80324	PUS1	HP:0001939	Abnormality of metabolism/homeostasis
80324	PUS1	HP:0001935	Microcytic anemia
80324	PUS1	HP:0001931	Hypochromic anemia
80324	PUS1	HP:0001903	Anemia
80324	PUS1	HP:0009055	Generalized limb muscle atrophy
80324	PUS1	HP:0011463	Childhood onset
80324	PUS1	HP:0003198	Myopathy
80324	PUS1	HP:0003196	Short nose
80324	PUS1	HP:0003128	Lactic acidosis
80324	PUS1	HP:0000823	Delayed puberty
80324	PUS1	HP:0040075	Hypopituitarism
80324	PUS1	HP:0003200	Ragged-red muscle fibers
80324	PUS1	HP:0003281	Increased circulating ferritin concentration
80324	PUS1	HP:0000980	Pallor
80324	PUS1	HP:0002808	Kyphosis
80324	PUS1	HP:0000252	Microcephaly
80324	PUS1	HP:0000218	High palate
80324	PUS1	HP:0001508	Failure to thrive
80324	PUS1	HP:0001510	Growth delay
80324	PUS1	HP:0000343	Long philtrum
80324	PUS1	HP:0000347	Micrognathia
80324	PUS1	HP:0000316	Hypertelorism
80324	PUS1	HP:0000457	Depressed nasal ridge
80324	PUS1	HP:0000501	Glaucoma
80324	PUS1	HP:0000580	Pigmentary retinopathy
80326	WNT10A	HP:0025114	Hypergranulosis
80326	WNT10A	HP:0001231	Abnormal fingernail morphology
80326	WNT10A	HP:0007410	Palmoplantar hyperhidrosis
80326	WNT10A	HP:0100840	Aplasia/Hypoplasia of the eyebrow
80326	WNT10A	HP:0007380	Facial telangiectasia
80326	WNT10A	HP:0007556	Plantar hyperkeratosis
80326	WNT10A	HP:0007502	Follicular hyperkeratosis
80326	WNT10A	HP:0002671	Basal cell carcinoma
80326	WNT10A	HP:0000007	Autosomal recessive inheritance
80326	WNT10A	HP:0000006	Autosomal dominant inheritance
80326	WNT10A	HP:0025493	Palmoplantar erythema
80326	WNT10A	HP:0006342	Peg-shaped maxillary lateral incisors
80326	WNT10A	HP:0006344	Abnormality of primary molar morphology
80326	WNT10A	HP:0006349	Agenesis of permanent teeth
80326	WNT10A	HP:0006336	Short dental root
80326	WNT10A	HP:0006323	Premature loss of primary teeth
80326	WNT10A	HP:0006313	Widely spaced primary teeth
80326	WNT10A	HP:0006297	Enamel hypoplasia
80326	WNT10A	HP:0006289	Agenesis of central incisor
80326	WNT10A	HP:0002164	Nail dysplasia
80326	WNT10A	HP:0003577	Congenital onset
80326	WNT10A	HP:0002231	Sparse body hair
80326	WNT10A	HP:0002213	Fine hair
80326	WNT10A	HP:0002209	Sparse scalp hair
80326	WNT10A	HP:0008391	Dystrophic fingernails
80326	WNT10A	HP:0008388	Abnormal toenail morphology
80326	WNT10A	HP:0025092	Epidermal acanthosis
80326	WNT10A	HP:0009804	Tooth agenesis
80326	WNT10A	HP:0100615	Ovarian neoplasm
80326	WNT10A	HP:0010783	Erythema
80326	WNT10A	HP:0032152	Keratosis pilaris
80326	WNT10A	HP:0010764	Short eyelashes
80326	WNT10A	HP:0010765	Palmar hyperkeratosis
80326	WNT10A	HP:0000613	Photophobia
80326	WNT10A	HP:0011359	Dry hair
80326	WNT10A	HP:0000696	Delayed eruption of permanent teeth
80326	WNT10A	HP:0000684	Delayed eruption of teeth
80326	WNT10A	HP:0000679	Taurodontia
80326	WNT10A	HP:0000677	Oligodontia
80326	WNT10A	HP:0000691	Microdontia
80326	WNT10A	HP:0000690	Agenesis of maxillary lateral incisor
80326	WNT10A	HP:0000689	Dental malocclusion
80326	WNT10A	HP:0000685	Hypoplasia of teeth
80326	WNT10A	HP:0000687	Widely spaced teeth
80326	WNT10A	HP:0011313	Narrow nail
80326	WNT10A	HP:0000668	Hypodontia
80326	WNT10A	HP:0011463	Childhood onset
80326	WNT10A	HP:0010298	Smooth tongue
80326	WNT10A	HP:0045075	Sparse eyebrow
80326	WNT10A	HP:0000975	Hyperhidrosis
80326	WNT10A	HP:0000972	Palmoplantar hyperkeratosis
80326	WNT10A	HP:0000982	Palmoplantar keratoderma
80326	WNT10A	HP:0000958	Dry skin
80326	WNT10A	HP:0000968	Ectodermal dysplasia
80326	WNT10A	HP:0000966	Hypohidrosis
80326	WNT10A	HP:0000963	Thin skin
80326	WNT10A	HP:0040162	Orthokeratosis
80326	WNT10A	HP:0008070	Sparse hair
80326	WNT10A	HP:0031405	Poroma
80326	WNT10A	HP:0001595	Abnormal hair morphology
80326	WNT10A	HP:0001596	Alopecia
80326	WNT10A	HP:0002860	Squamous cell carcinoma
80326	WNT10A	HP:0000202	Orofacial cleft
80326	WNT10A	HP:0011078	Abnormality of canine
80326	WNT10A	HP:0011065	Conical incisor
80326	WNT10A	HP:0011053	Agenesis of mandibular premolar
80326	WNT10A	HP:0011051	Agenesis of premolar
80326	WNT10A	HP:0011056	Agenesis of first permanent molar tooth
80326	WNT10A	HP:0005216	Impaired mastication
80326	WNT10A	HP:0006481	Abnormality of primary teeth
80326	WNT10A	HP:0006482	Abnormality of dental morphology
80326	WNT10A	HP:0031454	Apocrine hidrocystoma
80326	WNT10A	HP:0000320	Bird-like facies
80326	WNT10A	HP:0012472	Eclabion
80326	WNT10A	HP:0000478	Abnormality of the eye
80326	WNT10A	HP:0001792	Small nail
80326	WNT10A	HP:0001799	Short nail
80326	WNT10A	HP:0001798	Anonychia
80326	WNT10A	HP:0001807	Ridged nail
80326	WNT10A	HP:0001806	Onycholysis
80326	WNT10A	HP:0001816	Thin nail
80326	WNT10A	HP:0001810	Dystrophic toenail
80326	WNT10A	HP:0011219	Short face
80331	DNAJC5	HP:0001250	Seizure
80331	DNAJC5	HP:0001251	Ataxia
80331	DNAJC5	HP:0008765	Auditory hallucinations
80331	DNAJC5	HP:0000006	Autosomal dominant inheritance
80331	DNAJC5	HP:0001336	Myoclonus
80331	DNAJC5	HP:0001317	Abnormal cerebellum morphology
80331	DNAJC5	HP:0001300	Parkinsonism
80331	DNAJC5	HP:0002069	Bilateral tonic-clonic seizure
80331	DNAJC5	HP:0002074	Increased neuronal autofluorescent lipopigment
80331	DNAJC5	HP:0002071	Abnormality of extrapyramidal motor function
80331	DNAJC5	HP:0002367	Visual hallucinations
80331	DNAJC5	HP:0003678	Rapidly progressive
80331	DNAJC5	HP:0003657	Granular osmiophilic deposits (GROD) in cells
80331	DNAJC5	HP:0000716	Depression
80331	DNAJC5	HP:0000726	Dementia
80331	DNAJC5	HP:0011462	Young adult onset
80331	DNAJC5	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
80331	DNAJC5	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
80331	DNAJC5	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
80331	DNAJC5	HP:0032794	Myoclonic seizure
80347	COASY	HP:0002454	Eye of the tiger anomaly of globus pallidus
80347	COASY	HP:0002453	Abnormal globus pallidus morphology
80347	COASY	HP:0001268	Mental deterioration
80347	COASY	HP:0001288	Gait disturbance
80347	COASY	HP:0001249	Intellectual disability
80347	COASY	HP:0001265	Hyporeflexia
80347	COASY	HP:0001260	Dysarthria
80347	COASY	HP:0001263	Global developmental delay
80347	COASY	HP:0010994	Abnormal corpus striatum morphology
80347	COASY	HP:0002522	Areflexia of lower limbs
80347	COASY	HP:0002510	Spastic tetraplegia
80347	COASY	HP:0012048	Oromandibular dystonia
80347	COASY	HP:0001332	Dystonia
80347	COASY	HP:0000007	Autosomal recessive inheritance
80347	COASY	HP:0001321	Cerebellar hypoplasia
80347	COASY	HP:0001300	Parkinsonism
80347	COASY	HP:0100543	Cognitive impairment
80347	COASY	HP:0002067	Bradykinesia
80347	COASY	HP:0002063	Rigidity
80347	COASY	HP:0002079	Hypoplasia of the corpus callosum
80347	COASY	HP:0002059	Cerebral atrophy
80347	COASY	HP:0003477	Peripheral axonal neuropathy
80347	COASY	HP:0002180	Neurodegeneration
80347	COASY	HP:0010557	Overlapping fingers
80347	COASY	HP:0033329	Abnormal postural reflex
80347	COASY	HP:0010663	Abnormality of thalamus morphology
80347	COASY	HP:0007002	Motor axonal neuropathy
80347	COASY	HP:0002365	Hypoplasia of the brainstem
80347	COASY	HP:0003693	Distal amyotrophy
80347	COASY	HP:0002376	Developmental regression
80347	COASY	HP:0003676	Progressive
80347	COASY	HP:0002339	Abnormal caudate nucleus morphology
80347	COASY	HP:0002355	Difficulty walking
80347	COASY	HP:0002313	Spastic paraparesis
80347	COASY	HP:0006872	Cerebral hypoplasia
80347	COASY	HP:0006956	Lateral ventricle dilatation
80347	COASY	HP:0034197	Third trimester onset
80347	COASY	HP:0034198	Second trimester onset
80347	COASY	HP:0031936	Delayed ability to walk
80347	COASY	HP:0100034	Motor tics
80347	COASY	HP:0000716	Depression
80347	COASY	HP:0000722	Compulsive behaviors
80347	COASY	HP:0011463	Childhood onset
80347	COASY	HP:0011451	Primary microcephaly
80347	COASY	HP:0034392	Joint contracture
80347	COASY	HP:0001561	Polyhydramnios
80347	COASY	HP:0001522	Death in infancy
80347	COASY	HP:0030051	Tip-toe gait
80347	COASY	HP:0000340	Sloping forehead
80347	COASY	HP:0000347	Micrognathia
80347	COASY	HP:0001762	Talipes equinovarus
80347	COASY	HP:0001761	Pes cavus
80347	COASY	HP:0001838	Rocker bottom foot
80704	SLC19A3	HP:0002490	Increased CSF lactate
80704	SLC19A3	HP:0002465	Poor speech
80704	SLC19A3	HP:0007256	Abnormal pyramidal sign
80704	SLC19A3	HP:0010864	Intellectual disability, severe
80704	SLC19A3	HP:0002415	Leukodystrophy
80704	SLC19A3	HP:0001298	Encephalopathy
80704	SLC19A3	HP:0001276	Hypertonia
80704	SLC19A3	HP:0001289	Confusion
80704	SLC19A3	HP:0001254	Lethargy
80704	SLC19A3	HP:0001250	Seizure
80704	SLC19A3	HP:0001252	Hypotonia
80704	SLC19A3	HP:0001251	Ataxia
80704	SLC19A3	HP:0001260	Dysarthria
80704	SLC19A3	HP:0001263	Global developmental delay
80704	SLC19A3	HP:0001257	Spasticity
80704	SLC19A3	HP:0001259	Coma
80704	SLC19A3	HP:0002540	Inability to walk
80704	SLC19A3	HP:0002510	Spastic tetraplegia
80704	SLC19A3	HP:0001347	Hyperreflexia
80704	SLC19A3	HP:0001332	Dystonia
80704	SLC19A3	HP:0000007	Autosomal recessive inheritance
80704	SLC19A3	HP:0012179	Craniofacial dystonia
80704	SLC19A3	HP:0008972	Decreased activity of mitochondrial respiratory chain
80704	SLC19A3	HP:0008947	Infantile muscular hypotonia
80704	SLC19A3	HP:0008936	Axial hypotonia
80704	SLC19A3	HP:0002015	Dysphagia
80704	SLC19A3	HP:0002013	Vomiting
80704	SLC19A3	HP:0002093	Respiratory insufficiency
80704	SLC19A3	HP:0002066	Gait ataxia
80704	SLC19A3	HP:0002063	Rigidity
80704	SLC19A3	HP:0002062	Morphological abnormality of the pyramidal tract
80704	SLC19A3	HP:0002072	Chorea
80704	SLC19A3	HP:0002073	Progressive cerebellar ataxia
80704	SLC19A3	HP:0003487	Babinski sign
80704	SLC19A3	HP:0002151	Increased serum lactate
80704	SLC19A3	HP:0002133	Status epilepticus
80704	SLC19A3	HP:0002134	Abnormal basal ganglia morphology
80704	SLC19A3	HP:0002104	Apnea
80704	SLC19A3	HP:0002179	Opisthotonus
80704	SLC19A3	HP:0002273	Tetraparesis
80704	SLC19A3	HP:0007020	Progressive spastic paraplegia
80704	SLC19A3	HP:0010628	Facial palsy
80704	SLC19A3	HP:0002385	Paraparesis
80704	SLC19A3	HP:0002396	Cogwheel rigidity
80704	SLC19A3	HP:0002359	Frequent falls
80704	SLC19A3	HP:0002376	Developmental regression
80704	SLC19A3	HP:0002371	Loss of speech
80704	SLC19A3	HP:0002345	Action tremor
80704	SLC19A3	HP:0002329	Drowsiness
80704	SLC19A3	HP:0009830	Peripheral neuropathy
80704	SLC19A3	HP:0007105	Infantile encephalopathy
80704	SLC19A3	HP:0002300	Mutism
80704	SLC19A3	HP:0003621	Juvenile onset
80704	SLC19A3	HP:0007183	Focal T2 hyperintense basal ganglia lesion
80704	SLC19A3	HP:0007185	Loss of consciousness
80704	SLC19A3	HP:0000639	Nystagmus
80704	SLC19A3	HP:0000648	Optic atrophy
80704	SLC19A3	HP:0001945	Fever
80704	SLC19A3	HP:0001941	Acidosis
80704	SLC19A3	HP:0000602	Ophthalmoplegia
80704	SLC19A3	HP:0001903	Anemia
80704	SLC19A3	HP:0012697	Small basal ganglia
80704	SLC19A3	HP:0004302	Functional motor deficit
80704	SLC19A3	HP:0012747	Abnormal brainstem MRI signal intensity
80704	SLC19A3	HP:0100022	Abnormality of movement
80704	SLC19A3	HP:0000737	Irritability
80704	SLC19A3	HP:0000712	Emotional lability
80704	SLC19A3	HP:0000711	Restlessness
80704	SLC19A3	HP:0011463	Childhood onset
80704	SLC19A3	HP:0011462	Young adult onset
80704	SLC19A3	HP:0000998	Hypertrichosis
80704	SLC19A3	HP:0001508	Failure to thrive
80704	SLC19A3	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
80704	SLC19A3	HP:0000365	Hearing impairment
80704	SLC19A3	HP:0030147	Truncal titubation
80704	SLC19A3	HP:0001629	Ventricular septal defect
80704	SLC19A3	HP:0001639	Hypertrophic cardiomyopathy
80704	SLC19A3	HP:0030215	Inappropriate crying
80704	SLC19A3	HP:0000486	Strabismus
80704	SLC19A3	HP:0012469	Infantile spasms
80704	SLC19A3	HP:0000494	Downslanted palpebral fissures
80704	SLC19A3	HP:0000508	Ptosis
80704	SLC19A3	HP:0000580	Pigmentary retinopathy
80704	SLC19A3	HP:0000544	External ophthalmoplegia
80705	TSGA10	HP:0000007	Autosomal recessive inheritance
80705	TSGA10	HP:0011462	Young adult onset
80705	TSGA10	HP:0012869	Acephalic spermatozoa
80705	TSGA10	HP:0003251	Male infertility
80726	IQCN	HP:0033712	Repeated implantation failure
80726	IQCN	HP:0000007	Autosomal recessive inheritance
80726	IQCN	HP:0032561	Microcephalic sperm head
80726	IQCN	HP:0032562	Tapered sperm head
80726	IQCN	HP:0011462	Young adult onset
80726	IQCN	HP:0003251	Male infertility
80736	SLC44A4	HP:0000006	Autosomal dominant inheritance
80736	SLC44A4	HP:0003676	Progressive
80736	SLC44A4	HP:0011462	Young adult onset
80736	SLC44A4	HP:0000360	Tinnitus
80736	SLC44A4	HP:0000407	Sensorineural hearing impairment
80739	MPIG6B	HP:0000007	Autosomal recessive inheritance
80739	MPIG6B	HP:0011974	Myelofibrosis
80739	MPIG6B	HP:0004823	Anisopoikilocytosis
80739	MPIG6B	HP:0001903	Anemia
80739	MPIG6B	HP:0011463	Childhood onset
80739	MPIG6B	HP:0001744	Splenomegaly
80739	MPIG6B	HP:0001873	Thrombocytopenia
80746	TSEN2	HP:0007308	Extrapyramidal dyskinesia
80746	TSEN2	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
80746	TSEN2	HP:0009879	Simplified gyral pattern
80746	TSEN2	HP:0001272	Cerebellar atrophy
80746	TSEN2	HP:0001270	Motor delay
80746	TSEN2	HP:0001250	Seizure
80746	TSEN2	HP:0001252	Hypotonia
80746	TSEN2	HP:0001266	Choreoathetosis
80746	TSEN2	HP:0001257	Spasticity
80746	TSEN2	HP:0002536	Abnormal cortical gyration
80746	TSEN2	HP:0002509	Limb hypertonia
80746	TSEN2	HP:0003819	Death in childhood
80746	TSEN2	HP:0031162	Impaired oropharyngeal swallow response
80746	TSEN2	HP:0001332	Dystonia
80746	TSEN2	HP:0000007	Autosomal recessive inheritance
80746	TSEN2	HP:0001320	Cerebellar vermis hypoplasia
80746	TSEN2	HP:0001321	Cerebellar hypoplasia
80746	TSEN2	HP:0007663	Reduced visual acuity
80746	TSEN2	HP:0008936	Axial hypotonia
80746	TSEN2	HP:0007598	Bilateral single transverse palmar creases
80746	TSEN2	HP:0002719	Recurrent infections
80746	TSEN2	HP:0002020	Gastroesophageal reflux
80746	TSEN2	HP:0002033	Poor suck
80746	TSEN2	HP:0002015	Dysphagia
80746	TSEN2	HP:0002079	Hypoplasia of the corpus callosum
80746	TSEN2	HP:0002072	Chorea
80746	TSEN2	HP:0002059	Cerebral atrophy
80746	TSEN2	HP:0003487	Babinski sign
80746	TSEN2	HP:0002123	Generalized myoclonic seizure
80746	TSEN2	HP:0002119	Ventriculomegaly
80746	TSEN2	HP:0002104	Apnea
80746	TSEN2	HP:0002169	Clonus
80746	TSEN2	HP:0002179	Opisthotonus
80746	TSEN2	HP:0002268	Paroxysmal dystonia
80746	TSEN2	HP:0003577	Congenital onset
80746	TSEN2	HP:0100704	Cerebral visual impairment
80746	TSEN2	HP:0003558	Viral infection-induced rhabdomyolysis
80746	TSEN2	HP:0200136	Oral-pharyngeal dysphagia
80746	TSEN2	HP:0011968	Feeding difficulties
80746	TSEN2	HP:0002365	Hypoplasia of the brainstem
80746	TSEN2	HP:0002360	Sleep disturbance
80746	TSEN2	HP:0002350	Cerebellar cyst
80746	TSEN2	HP:0200049	Upper limb hypertonia
80746	TSEN2	HP:0006850	Hypoplasia of the ventral pons
80746	TSEN2	HP:0006895	Lower limb hypertonia
80746	TSEN2	HP:0009062	Infantile axial hypotonia
80746	TSEN2	HP:0011344	Severe global developmental delay
80746	TSEN2	HP:0001999	Abnormal facial shape
80746	TSEN2	HP:0006989	Dysplastic corpus callosum
80746	TSEN2	HP:0011471	Gastrostomy tube feeding in infancy
80746	TSEN2	HP:0012765	Widened cerebellar subarachnoid space
80746	TSEN2	HP:0000954	Single transverse palmar crease
80746	TSEN2	HP:0000253	Progressive microcephaly
80746	TSEN2	HP:0000252	Microcephaly
80746	TSEN2	HP:0001561	Polyhydramnios
80746	TSEN2	HP:0001522	Death in infancy
80746	TSEN2	HP:0000340	Sloping forehead
80746	TSEN2	HP:0032792	Tonic seizure
80746	TSEN2	HP:0032794	Myoclonic seizure
80746	TSEN2	HP:0011171	Simple febrile seizure
80746	TSEN2	HP:0012469	Infantile spasms
80746	TSEN2	HP:0000505	Visual impairment
80776	B9D2	HP:0001177	Preaxial hand polydactyly
80776	B9D2	HP:0001162	Postaxial hand polydactyly
80776	B9D2	HP:0001161	Hand polydactyly
80776	B9D2	HP:0002419	Molar tooth sign on MRI
80776	B9D2	HP:0001288	Gait disturbance
80776	B9D2	HP:0001250	Seizure
80776	B9D2	HP:0001252	Hypotonia
80776	B9D2	HP:0001251	Ataxia
80776	B9D2	HP:0001249	Intellectual disability
80776	B9D2	HP:0001263	Global developmental delay
80776	B9D2	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
80776	B9D2	HP:0002553	Highly arched eyebrow
80776	B9D2	HP:0000068	Urethral atresia
80776	B9D2	HP:0000062	Ambiguous genitalia
80776	B9D2	HP:0000073	Ureteral duplication
80776	B9D2	HP:0000037	Male pseudohermaphroditism
80776	B9D2	HP:0000054	Micropenis
80776	B9D2	HP:0000047	Hypospadias
80776	B9D2	HP:0000028	Cryptorchidism
80776	B9D2	HP:0008872	Feeding difficulties in infancy
80776	B9D2	HP:0000007	Autosomal recessive inheritance
80776	B9D2	HP:0000003	Multicystic kidney dysplasia
80776	B9D2	HP:0001337	Tremor
80776	B9D2	HP:0001305	Dandy-Walker malformation
80776	B9D2	HP:0001320	Cerebellar vermis hypoplasia
80776	B9D2	HP:0002650	Scoliosis
80776	B9D2	HP:0001321	Cerebellar hypoplasia
80776	B9D2	HP:0002612	Congenital hepatic fibrosis
80776	B9D2	HP:0000193	Bifid uvula
80776	B9D2	HP:0000175	Cleft palate
80776	B9D2	HP:0002793	Abnormal pattern of respiration
80776	B9D2	HP:0000107	Renal cyst
80776	B9D2	HP:0002007	Frontal bossing
80776	B9D2	HP:0003312	Abnormal form of the vertebral bodies
80776	B9D2	HP:0002085	Occipital encephalocele
80776	B9D2	HP:0002084	Encephalocele
80776	B9D2	HP:0009487	Ulnar deviation of the hand
80776	B9D2	HP:0010459	True hermaphroditism
80776	B9D2	HP:0002126	Polymicrogyria
80776	B9D2	HP:0002104	Apnea
80776	B9D2	HP:0002198	Dilated fourth ventricle
80776	B9D2	HP:0002269	Abnormality of neuronal migration
80776	B9D2	HP:0002251	Aganglionic megacolon
80776	B9D2	HP:0100732	Pancreatic fibrosis
80776	B9D2	HP:0002323	Anencephaly
80776	B9D2	HP:0006870	Lobar holoprosencephaly
80776	B9D2	HP:0000639	Nystagmus
80776	B9D2	HP:0000648	Optic atrophy
80776	B9D2	HP:0000647	Sclerocornea
80776	B9D2	HP:0000612	Iris coloboma
80776	B9D2	HP:0000657	Oculomotor apraxia
80776	B9D2	HP:0030680	Abnormality of cardiovascular system morphology
80776	B9D2	HP:0011461	Fetal onset
80776	B9D2	HP:0004422	Biparietal narrowing
80776	B9D2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
80776	B9D2	HP:0010295	Aplasia/Hypoplasia of the tongue
80776	B9D2	HP:0100259	Postaxial polydactyly
80776	B9D2	HP:0000960	Sacral dimple
80776	B9D2	HP:0045025	Narrow palpebral fissure
80776	B9D2	HP:0008053	Aplasia/Hypoplasia of the iris
80776	B9D2	HP:0000286	Epicanthus
80776	B9D2	HP:0000293	Full cheeks
80776	B9D2	HP:0000276	Long face
80776	B9D2	HP:0000238	Hydrocephalus
80776	B9D2	HP:0000252	Microcephaly
80776	B9D2	HP:0000221	Furrowed tongue
80776	B9D2	HP:0002876	Episodic tachypnea
80776	B9D2	HP:0001562	Oligohydramnios
80776	B9D2	HP:0000202	Orofacial cleft
80776	B9D2	HP:0012385	Camptodactyly
80776	B9D2	HP:0000377	Abnormal pinna morphology
80776	B9D2	HP:0006563	Malformation of the hepatic ductal plate
80776	B9D2	HP:0006487	Bowing of the long bones
80776	B9D2	HP:0001696	Situs inversus totalis
80776	B9D2	HP:0000369	Low-set ears
80776	B9D2	HP:0000368	Low-set, posteriorly rotated ears
80776	B9D2	HP:0000340	Sloping forehead
80776	B9D2	HP:0000347	Micrognathia
80776	B9D2	HP:0000316	Hypertelorism
80776	B9D2	HP:0001737	Pancreatic cysts
80776	B9D2	HP:0000486	Strabismus
80776	B9D2	HP:0000482	Microcornea
80776	B9D2	HP:0000463	Anteverted nares
80776	B9D2	HP:0000457	Depressed nasal ridge
80776	B9D2	HP:0001746	Asplenia
80776	B9D2	HP:0001747	Accessory spleen
80776	B9D2	HP:0000426	Prominent nasal bridge
80776	B9D2	HP:0006706	Cystic liver disease
80776	B9D2	HP:0000518	Cataract
80776	B9D2	HP:0000528	Anophthalmia
80776	B9D2	HP:0001829	Foot polydactyly
80776	B9D2	HP:0000508	Ptosis
80776	B9D2	HP:0001830	Postaxial foot polydactyly
80776	B9D2	HP:0000568	Microphthalmia
80776	B9D2	HP:0000532	Abnormal chorioretinal morphology
80776	B9D2	HP:0001883	Talipes
80781	COL18A1	HP:0001132	Lens subluxation
80781	COL18A1	HP:0002436	Occipital meningocele
80781	COL18A1	HP:0001104	Macular hypoplasia
80781	COL18A1	HP:0001123	Visual field defect
80781	COL18A1	HP:0009917	Persistent pupillary membrane
80781	COL18A1	HP:0001272	Cerebellar atrophy
80781	COL18A1	HP:0001250	Seizure
80781	COL18A1	HP:0001251	Ataxia
80781	COL18A1	HP:0001249	Intellectual disability
80781	COL18A1	HP:0001263	Global developmental delay
80781	COL18A1	HP:0000081	Duplicated collecting system
80781	COL18A1	HP:0000076	Vesicoureteral reflux
80781	COL18A1	HP:0000075	Renal duplication
80781	COL18A1	HP:0001382	Joint hypermobility
80781	COL18A1	HP:0001362	Calvarial skull defect
80781	COL18A1	HP:0001331	Absent septum pellucidum
80781	COL18A1	HP:0000007	Autosomal recessive inheritance
80781	COL18A1	HP:0000006	Autosomal dominant inheritance
80781	COL18A1	HP:0500087	Peripapillary atrophy
80781	COL18A1	HP:0012109	Angle closure glaucoma
80781	COL18A1	HP:0000126	Hydronephrosis
80781	COL18A1	HP:0002021	Pyloric stenosis
80781	COL18A1	HP:0011800	Midface retrusion
80781	COL18A1	HP:0002085	Occipital encephalocele
80781	COL18A1	HP:0002059	Cerebral atrophy
80781	COL18A1	HP:0002119	Ventriculomegaly
80781	COL18A1	HP:0002126	Polymicrogyria
80781	COL18A1	HP:0003577	Congenital onset
80781	COL18A1	HP:0100764	Lymphangioma
80781	COL18A1	HP:0002293	Alopecia of scalp
80781	COL18A1	HP:0001083	Ectopia lentis
80781	COL18A1	HP:0000640	Gaze-evoked nystagmus
80781	COL18A1	HP:0000639	Nystagmus
80781	COL18A1	HP:0000608	Macular degeneration
80781	COL18A1	HP:0000667	Phthisis bulbi
80781	COL18A1	HP:0000666	Horizontal nystagmus
80781	COL18A1	HP:0004327	Abnormal vitreous humor morphology
80781	COL18A1	HP:0005692	Joint hyperflexibility
80781	COL18A1	HP:0100019	Cortical cataract
80781	COL18A1	HP:0011483	Anterior synechiae of the anterior chamber
80781	COL18A1	HP:0012796	Increased cup-to-disc ratio
80781	COL18A1	HP:0011463	Childhood onset
80781	COL18A1	HP:0012805	Iris transillumination defect
80781	COL18A1	HP:0003298	Spina bifida occulta
80781	COL18A1	HP:0000286	Epicanthus
80781	COL18A1	HP:0001595	Abnormal hair morphology
80781	COL18A1	HP:0000275	Narrow face
80781	COL18A1	HP:0007773	Vitreoretinopathy
80781	COL18A1	HP:0000238	Hydrocephalus
80781	COL18A1	HP:0000252	Microcephaly
80781	COL18A1	HP:0030037	Bifid ureter
80781	COL18A1	HP:0007843	Attenuation of retinal blood vessels
80781	COL18A1	HP:0011003	High myopia
80781	COL18A1	HP:0000341	Narrow forehead
80781	COL18A1	HP:0001651	Dextrocardia
80781	COL18A1	HP:0032794	Myoclonic seizure
80781	COL18A1	HP:0001643	Patent ductus arteriosus
80781	COL18A1	HP:0007906	Ocular hypertension
80781	COL18A1	HP:0005280	Depressed nasal bridge
80781	COL18A1	HP:0000486	Strabismus
80781	COL18A1	HP:0030211	Slow pupillary light response
80781	COL18A1	HP:0000414	Bulbous nose
80781	COL18A1	HP:0000518	Cataract
80781	COL18A1	HP:0000519	Developmental cataract
80781	COL18A1	HP:0000529	Progressive visual loss
80781	COL18A1	HP:0000506	Telecanthus
80781	COL18A1	HP:0000505	Visual impairment
80781	COL18A1	HP:0000501	Glaucoma
80781	COL18A1	HP:0000585	Band keratopathy
80781	COL18A1	HP:0011228	Horizontal eyebrow
80781	COL18A1	HP:0011220	Prominent forehead
80781	COL18A1	HP:0000572	Visual loss
80781	COL18A1	HP:0000541	Retinal detachment
80781	COL18A1	HP:0000533	Chorioretinal atrophy
80781	COL18A1	HP:0000543	Optic disc pallor
80781	COL18A1	HP:0000545	Myopia
80816	ASXL3	HP:0001188	Hand clenching
80816	ASXL3	HP:0001166	Arachnodactyly
80816	ASXL3	HP:0010864	Intellectual disability, severe
80816	ASXL3	HP:0001290	Generalized hypotonia
80816	ASXL3	HP:0001276	Hypertonia
80816	ASXL3	HP:0001250	Seizure
80816	ASXL3	HP:0001252	Hypotonia
80816	ASXL3	HP:0001249	Intellectual disability
80816	ASXL3	HP:0001263	Global developmental delay
80816	ASXL3	HP:0002558	Supernumerary nipple
80816	ASXL3	HP:0002566	Intestinal malrotation
80816	ASXL3	HP:0002540	Inability to walk
80816	ASXL3	HP:0002553	Highly arched eyebrow
80816	ASXL3	HP:0002500	Abnormal cerebral white matter morphology
80816	ASXL3	HP:0000028	Cryptorchidism
80816	ASXL3	HP:0008872	Feeding difficulties in infancy
80816	ASXL3	HP:0006191	Deep palmar crease
80816	ASXL3	HP:0001344	Absent speech
80816	ASXL3	HP:0000006	Autosomal dominant inheritance
80816	ASXL3	HP:0001320	Cerebellar vermis hypoplasia
80816	ASXL3	HP:0002650	Scoliosis
80816	ASXL3	HP:0000194	Open mouth
80816	ASXL3	HP:0000154	Wide mouth
80816	ASXL3	HP:0008947	Infantile muscular hypotonia
80816	ASXL3	HP:0002705	High, narrow palate
80816	ASXL3	HP:0002719	Recurrent infections
80816	ASXL3	HP:0002020	Gastroesophageal reflux
80816	ASXL3	HP:0002000	Short columella
80816	ASXL3	HP:0002013	Vomiting
80816	ASXL3	HP:0004673	Decreased facial expression
80816	ASXL3	HP:0002079	Hypoplasia of the corpus callosum
80816	ASXL3	HP:0040288	Nasogastric tube feeding
80816	ASXL3	HP:0009487	Ulnar deviation of the hand
80816	ASXL3	HP:0002187	Intellectual disability, profound
80816	ASXL3	HP:0002167	Abnormality of speech or vocalization
80816	ASXL3	HP:0100716	Self-injurious behavior
80816	ASXL3	HP:0011968	Feeding difficulties
80816	ASXL3	HP:0007068	Inferior cerebellar vermis hypoplasia
80816	ASXL3	HP:0002360	Sleep disturbance
80816	ASXL3	HP:0002342	Intellectual disability, moderate
80816	ASXL3	HP:0001007	Hirsutism
80816	ASXL3	HP:0033454	Tube feeding
80816	ASXL3	HP:0009765	Low hanging columella
80816	ASXL3	HP:0000629	Periorbital fullness
80816	ASXL3	HP:0011344	Severe global developmental delay
80816	ASXL3	HP:0000678	Dental crowding
80816	ASXL3	HP:0011330	Metopic synostosis
80816	ASXL3	HP:0000664	Synophrys
80816	ASXL3	HP:0006956	Lateral ventricle dilatation
80816	ASXL3	HP:0031936	Delayed ability to walk
80816	ASXL3	HP:0011410	Caesarian section
80816	ASXL3	HP:0100023	Recurrent hand flapping
80816	ASXL3	HP:0000750	Delayed speech and language development
80816	ASXL3	HP:0000717	Autism
80816	ASXL3	HP:0000729	Autistic behavior
80816	ASXL3	HP:0030799	Scaphocephaly
80816	ASXL3	HP:0003196	Short nose
80816	ASXL3	HP:0000924	Abnormality of the skeletal system
80816	ASXL3	HP:0003189	Long nose
80816	ASXL3	HP:0000826	Precocious puberty
80816	ASXL3	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger
80816	ASXL3	HP:0045074	Thin eyebrow
80816	ASXL3	HP:0008070	Sparse hair
80816	ASXL3	HP:0000286	Epicanthus
80816	ASXL3	HP:0000278	Retrognathia
80816	ASXL3	HP:0000272	Malar flattening
80816	ASXL3	HP:0000268	Dolichocephaly
80816	ASXL3	HP:0000243	Trigonocephaly
80816	ASXL3	HP:0000239	Large fontanelles
80816	ASXL3	HP:0000252	Microcephaly
80816	ASXL3	HP:0000219	Thin upper lip vermilion
80816	ASXL3	HP:0000218	High palate
80816	ASXL3	HP:0000212	Gingival overgrowth
80816	ASXL3	HP:0001561	Polyhydramnios
80816	ASXL3	HP:0000232	Everted lower lip vermilion
80816	ASXL3	HP:0001522	Death in infancy
80816	ASXL3	HP:0001508	Failure to thrive
80816	ASXL3	HP:0001519	Disproportionate tall stature
80816	ASXL3	HP:0001511	Intrauterine growth retardation
80816	ASXL3	HP:0001510	Growth delay
80816	ASXL3	HP:0001601	Laryngomalacia
80816	ASXL3	HP:0000358	Posteriorly rotated ears
80816	ASXL3	HP:0000369	Low-set ears
80816	ASXL3	HP:0000340	Sloping forehead
80816	ASXL3	HP:0000347	Micrognathia
80816	ASXL3	HP:0000316	Hypertelorism
80816	ASXL3	HP:0000331	Short chin
80816	ASXL3	HP:0001623	Breech presentation
80816	ASXL3	HP:0005280	Depressed nasal bridge
80816	ASXL3	HP:0000486	Strabismus
80816	ASXL3	HP:0000494	Downslanted palpebral fissures
80816	ASXL3	HP:0000490	Deeply set eye
80816	ASXL3	HP:0000463	Anteverted nares
80816	ASXL3	HP:0000455	Broad nasal tip
80816	ASXL3	HP:0001763	Pes planus
80816	ASXL3	HP:0000452	Choanal stenosis
80816	ASXL3	HP:0000414	Bulbous nose
80816	ASXL3	HP:0000431	Wide nasal bridge
80816	ASXL3	HP:0000430	Underdeveloped nasal alae
80816	ASXL3	HP:0000426	Prominent nasal bridge
80816	ASXL3	HP:0000527	Long eyelashes
80816	ASXL3	HP:0000520	Proptosis
80816	ASXL3	HP:0000582	Upslanted palpebral fissure
80816	ASXL3	HP:0011220	Prominent forehead
80816	ASXL3	HP:0000574	Thick eyebrow
80816	ASXL3	HP:0000540	Hypermetropia
80821	DDHD1	HP:0001258	Spastic paraplegia
80821	DDHD1	HP:0007340	Lower limb muscle weakness
80821	DDHD1	HP:0001347	Hyperreflexia
80821	DDHD1	HP:0000007	Autosomal recessive inheritance
80821	DDHD1	HP:0002650	Scoliosis
80821	DDHD1	HP:0002063	Rigidity
80821	DDHD1	HP:0002064	Spastic gait
80821	DDHD1	HP:0002061	Lower limb spasticity
80821	DDHD1	HP:0003477	Peripheral axonal neuropathy
80821	DDHD1	HP:0003487	Babinski sign
80821	DDHD1	HP:0002172	Postural instability
80821	DDHD1	HP:0003593	Infantile onset
80821	DDHD1	HP:0007021	Pain insensitivity
80821	DDHD1	HP:0002355	Difficulty walking
80821	DDHD1	HP:0003677	Slowly progressive
80821	DDHD1	HP:0002317	Unsteady gait
80821	DDHD1	HP:0010830	Impaired tactile sensation
80821	DDHD1	HP:0003621	Juvenile onset
80821	DDHD1	HP:0006944	Abolished vibration sense
80821	DDHD1	HP:0002936	Distal sensory impairment
80821	DDHD1	HP:0001761	Pes cavus
80832	APOL4	HP:0410291	Negativism
80832	APOL4	HP:0000006	Autosomal dominant inheritance
80832	APOL4	HP:0100753	Schizophrenia
80832	APOL4	HP:0007086	Social and occupational deterioration
80832	APOL4	HP:0002353	EEG abnormality
80832	APOL4	HP:0000738	Hallucinations
80832	APOL4	HP:0000746	Delusions
80856	LNPK	HP:0010862	Delayed fine motor development
80856	LNPK	HP:0001272	Cerebellar atrophy
80856	LNPK	HP:0001288	Gait disturbance
80856	LNPK	HP:0001252	Hypotonia
80856	LNPK	HP:0001263	Global developmental delay
80856	LNPK	HP:0002540	Inability to walk
80856	LNPK	HP:0001344	Absent speech
80856	LNPK	HP:0000007	Autosomal recessive inheritance
80856	LNPK	HP:0001337	Tremor
80856	LNPK	HP:0001310	Dysmetria
80856	LNPK	HP:0001320	Cerebellar vermis hypoplasia
80856	LNPK	HP:0002069	Bilateral tonic-clonic seizure
80856	LNPK	HP:0002066	Gait ataxia
80856	LNPK	HP:0002063	Rigidity
80856	LNPK	HP:0002079	Hypoplasia of the corpus callosum
80856	LNPK	HP:0002123	Generalized myoclonic seizure
80856	LNPK	HP:0002194	Delayed gross motor development
80856	LNPK	HP:0002376	Developmental regression
80856	LNPK	HP:0002307	Drooling
80856	LNPK	HP:0000752	Hyperactivity
80856	LNPK	HP:0000750	Delayed speech and language development
80856	LNPK	HP:0011463	Childhood onset
80856	LNPK	HP:0031358	Vegetative state
80856	LNPK	HP:0032792	Tonic seizure
80856	LNPK	HP:0012434	Delayed social development
81027	TUBB1	HP:0000006	Autosomal dominant inheritance
81027	TUBB1	HP:0003577	Congenital onset
81027	TUBB1	HP:0003540	Impaired platelet aggregation
81027	TUBB1	HP:0040185	Macrothrombocytopenia
81031	SLC2A10	HP:0001166	Arachnodactyly
81031	SLC2A10	HP:0001119	Keratoglobus
81031	SLC2A10	HP:0001290	Generalized hypotonia
81031	SLC2A10	HP:0001252	Hypotonia
81031	SLC2A10	HP:0001249	Intellectual disability
81031	SLC2A10	HP:0001263	Global developmental delay
81031	SLC2A10	HP:0007421	Telangiectases of the cheeks
81031	SLC2A10	HP:0001371	Flexion contracture
81031	SLC2A10	HP:0001385	Hip dysplasia
81031	SLC2A10	HP:0001388	Joint laxity
81031	SLC2A10	HP:0000023	Inguinal hernia
81031	SLC2A10	HP:0001363	Craniosynostosis
81031	SLC2A10	HP:0007495	Prematurely aged appearance
81031	SLC2A10	HP:0001328	Specific learning disability
81031	SLC2A10	HP:0002673	Coxa valga
81031	SLC2A10	HP:0000007	Autosomal recessive inheritance
81031	SLC2A10	HP:0002650	Scoliosis
81031	SLC2A10	HP:0002647	Aortic dissection
81031	SLC2A10	HP:0002616	Aortic root aneurysm
81031	SLC2A10	HP:0002617	Vascular dilatation
81031	SLC2A10	HP:0000193	Bifid uvula
81031	SLC2A10	HP:0012158	Carotid artery dissection
81031	SLC2A10	HP:0002021	Pyloric stenosis
81031	SLC2A10	HP:0002020	Gastroesophageal reflux
81031	SLC2A10	HP:0002036	Hiatus hernia
81031	SLC2A10	HP:0100541	Femoral hernia
81031	SLC2A10	HP:0100545	Arterial stenosis
81031	SLC2A10	HP:0002098	Respiratory distress
81031	SLC2A10	HP:0002094	Dyspnea
81031	SLC2A10	HP:0100585	Telangiectasia of the skin
81031	SLC2A10	HP:0002140	Ischemic stroke
81031	SLC2A10	HP:0003593	Infantile onset
81031	SLC2A10	HP:0003577	Congenital onset
81031	SLC2A10	HP:0010668	Abnormal zygomatic bone morphology
81031	SLC2A10	HP:0001027	Soft, doughy skin
81031	SLC2A10	HP:0008501	Median cleft lip and palate
81031	SLC2A10	HP:0100633	Esophagitis
81031	SLC2A10	HP:0004955	Generalized arterial tortuosity
81031	SLC2A10	HP:0003623	Neonatal onset
81031	SLC2A10	HP:0003621	Juvenile onset
81031	SLC2A10	HP:0004942	Aortic aneurysm
81031	SLC2A10	HP:0004209	Clinodactyly of the 5th finger
81031	SLC2A10	HP:0001977	Abnormal thrombosis
81031	SLC2A10	HP:0011302	Long palm
81031	SLC2A10	HP:0005692	Joint hyperflexibility
81031	SLC2A10	HP:0012745	Short palpebral fissure
81031	SLC2A10	HP:0000767	Pectus excavatum
81031	SLC2A10	HP:0000768	Pectus carinatum
81031	SLC2A10	HP:0011463	Childhood onset
81031	SLC2A10	HP:0011462	Young adult onset
81031	SLC2A10	HP:0000776	Congenital diaphragmatic hernia
81031	SLC2A10	HP:0004415	Pulmonary artery stenosis
81031	SLC2A10	HP:0005743	Avascular necrosis of the capital femoral epiphysis
81031	SLC2A10	HP:0003196	Short nose
81031	SLC2A10	HP:0012819	Myocarditis
81031	SLC2A10	HP:0000822	Hypertension
81031	SLC2A10	HP:0000978	Bruising susceptibility
81031	SLC2A10	HP:0000977	Soft skin
81031	SLC2A10	HP:0000974	Hyperextensible skin
81031	SLC2A10	HP:0000973	Cutis laxa
81031	SLC2A10	HP:0000963	Thin skin
81031	SLC2A10	HP:0000256	Macrocephaly
81031	SLC2A10	HP:0000276	Long face
81031	SLC2A10	HP:0000272	Malar flattening
81031	SLC2A10	HP:0002812	Coxa vara
81031	SLC2A10	HP:0002827	Hip dislocation
81031	SLC2A10	HP:0001582	Redundant skin
81031	SLC2A10	HP:0002878	Respiratory failure
81031	SLC2A10	HP:0000218	High palate
81031	SLC2A10	HP:0001537	Umbilical hernia
81031	SLC2A10	HP:0012378	Fatigue
81031	SLC2A10	HP:0006543	Cardiorespiratory arrest
81031	SLC2A10	HP:0001695	Cardiac arrest
81031	SLC2A10	HP:0000343	Long philtrum
81031	SLC2A10	HP:0000347	Micrognathia
81031	SLC2A10	HP:0001650	Aortic valve stenosis
81031	SLC2A10	HP:0000316	Hypertelorism
81031	SLC2A10	HP:0001644	Dilated cardiomyopathy
81031	SLC2A10	HP:0001658	Myocardial infarction
81031	SLC2A10	HP:0001659	Aortic regurgitation
81031	SLC2A10	HP:0001639	Hypertrophic cardiomyopathy
81031	SLC2A10	HP:0001635	Congestive heart failure
81031	SLC2A10	HP:0001637	Abnormal myocardium morphology
81031	SLC2A10	HP:0006687	Aortic tortuosity
81031	SLC2A10	HP:0005328	Progeroid facial appearance
81031	SLC2A10	HP:0005344	Abnormal carotid artery morphology
81031	SLC2A10	HP:0000400	Macrotia
81031	SLC2A10	HP:0001714	Ventricular hypertrophy
81031	SLC2A10	HP:0000483	Astigmatism
81031	SLC2A10	HP:0000486	Strabismus
81031	SLC2A10	HP:0000494	Downslanted palpebral fissures
81031	SLC2A10	HP:0000444	Convex nasal ridge
81031	SLC2A10	HP:0001838	Rocker bottom foot
81031	SLC2A10	HP:0000581	Blepharophimosis
81031	SLC2A10	HP:0000563	Keratoconus
81031	SLC2A10	HP:0000545	Myopia
81034	SLC25A32	HP:0000007	Autosomal recessive inheritance
81034	SLC25A32	HP:0003546	Exercise intolerance
81034	SLC25A32	HP:0003200	Ragged-red muscle fibers
81494	CFHR5	HP:0003774	Stage 5 chronic kidney disease
81494	CFHR5	HP:0000083	Renal insufficiency
81494	CFHR5	HP:0000099	Glomerulonephritis
81494	CFHR5	HP:0000006	Autosomal dominant inheritance
81494	CFHR5	HP:0004746	Glomerular subendothelial electron-dense deposits
81494	CFHR5	HP:0025005	Thickening of glomerular capillary wall
81494	CFHR5	HP:0003676	Progressive
81494	CFHR5	HP:0033493	Mesangial matrix expansion
81494	CFHR5	HP:0002907	Microscopic hematuria
81494	CFHR5	HP:0012576	Glomerular C3 deposition
81494	CFHR5	HP:0012574	Mesangial hypercellularity
81545	FBXO38	HP:0007269	Spinal muscular atrophy
81545	FBXO38	HP:0007210	Lower limb amyotrophy
81545	FBXO38	HP:0003701	Proximal muscle weakness
81545	FBXO38	HP:0007340	Lower limb muscle weakness
81545	FBXO38	HP:0003828	Variable expressivity
81545	FBXO38	HP:0000006	Autosomal dominant inheritance
81545	FBXO38	HP:0031108	Triceps weakness
81545	FBXO38	HP:0003394	Muscle spasm
81545	FBXO38	HP:0003431	Decreased motor nerve conduction velocity
81545	FBXO38	HP:0003444	EMG: chronic denervation signs
81545	FBXO38	HP:0002380	Fasciculations
81545	FBXO38	HP:0002355	Difficulty walking
81545	FBXO38	HP:0003677	Slowly progressive
81545	FBXO38	HP:0009072	Decreased Achilles reflex
81545	FBXO38	HP:0009046	Difficulty running
81545	FBXO38	HP:0009005	Weakness of the intrinsic hand muscles
81545	FBXO38	HP:0001761	Pes cavus
81555	YIPF5	HP:0001263	Global developmental delay
81555	YIPF5	HP:0000007	Autosomal recessive inheritance
81555	YIPF5	HP:0002069	Bilateral tonic-clonic seizure
81555	YIPF5	HP:0003593	Infantile onset
81555	YIPF5	HP:0006956	Lateral ventricle dilatation
81555	YIPF5	HP:0000819	Diabetes mellitus
81555	YIPF5	HP:0040217	Elevated hemoglobin A1c
81555	YIPF5	HP:0000252	Microcephaly
81555	YIPF5	HP:0001518	Small for gestational age
81562	LMAN2L	HP:0010864	Intellectual disability, severe
81562	LMAN2L	HP:0001250	Seizure
81562	LMAN2L	HP:0001249	Intellectual disability
81562	LMAN2L	HP:0001263	Global developmental delay
81562	LMAN2L	HP:0001344	Absent speech
81562	LMAN2L	HP:0000007	Autosomal recessive inheritance
81562	LMAN2L	HP:0000006	Autosomal dominant inheritance
81562	LMAN2L	HP:0002080	Intention tremor
81562	LMAN2L	HP:0002069	Bilateral tonic-clonic seizure
81562	LMAN2L	HP:0003593	Infantile onset
81562	LMAN2L	HP:0007018	Attention deficit hyperactivity disorder
81562	LMAN2L	HP:0000750	Delayed speech and language development
81562	LMAN2L	HP:0000718	Aggressive behavior
81570	CLPB	HP:0002487	Hyperkinetic movements
81570	CLPB	HP:0002490	Increased CSF lactate
81570	CLPB	HP:0010920	Zonular cataract
81570	CLPB	HP:0007270	Atypical absence seizure
81570	CLPB	HP:0410256	Infection associated neutropenia
81570	CLPB	HP:0410253	Myeloid maturation arrest
81570	CLPB	HP:0007256	Abnormal pyramidal sign
81570	CLPB	HP:0001298	Encephalopathy
81570	CLPB	HP:0001276	Hypertonia
81570	CLPB	HP:0001272	Cerebellar atrophy
81570	CLPB	HP:0001250	Seizure
81570	CLPB	HP:0001252	Hypotonia
81570	CLPB	HP:0001251	Ataxia
81570	CLPB	HP:0001249	Intellectual disability
81570	CLPB	HP:0001266	Choreoathetosis
81570	CLPB	HP:0001260	Dysarthria
81570	CLPB	HP:0001263	Global developmental delay
81570	CLPB	HP:0001257	Spasticity
81570	CLPB	HP:0033606	Bone marrow maturation arrest
81570	CLPB	HP:0002518	Abnormal periventricular white matter morphology
81570	CLPB	HP:0000083	Renal insufficiency
81570	CLPB	HP:0001397	Hepatic steatosis
81570	CLPB	HP:0001371	Flexion contracture
81570	CLPB	HP:0001347	Hyperreflexia
81570	CLPB	HP:0001332	Dystonia
81570	CLPB	HP:0001344	Absent speech
81570	CLPB	HP:0000007	Autosomal recessive inheritance
81570	CLPB	HP:0001337	Tremor
81570	CLPB	HP:0000006	Autosomal dominant inheritance
81570	CLPB	HP:0001336	Myoclonus
81570	CLPB	HP:0001319	Neonatal hypotonia
81570	CLPB	HP:0032435	Neonatal omphalitis
81570	CLPB	HP:0008905	Rhizomelia
81570	CLPB	HP:0025452	Pyoderma gangrenosum
81570	CLPB	HP:0025439	Pharyngitis
81570	CLPB	HP:0000155	Oral ulcer
81570	CLPB	HP:0410018	Recurrent ear infections
81570	CLPB	HP:0000121	Nephrocalcinosis
81570	CLPB	HP:0000107	Renal cyst
81570	CLPB	HP:0002719	Recurrent infections
81570	CLPB	HP:0002718	Recurrent bacterial infections
81570	CLPB	HP:0002027	Abdominal pain
81570	CLPB	HP:0002014	Diarrhea
81570	CLPB	HP:0002098	Respiratory distress
81570	CLPB	HP:0002090	Pneumonia
81570	CLPB	HP:0002069	Bilateral tonic-clonic seizure
81570	CLPB	HP:0002071	Abnormality of extrapyramidal motor function
81570	CLPB	HP:0002059	Cerebral atrophy
81570	CLPB	HP:0008151	Prolonged prothrombin time
81570	CLPB	HP:0002151	Increased serum lactate
81570	CLPB	HP:0003453	Antineutrophil antibody positivity
81570	CLPB	HP:0004798	Recurrent infection of the gastrointestinal tract
81570	CLPB	HP:0002134	Abnormal basal ganglia morphology
81570	CLPB	HP:0002107	Pneumothorax
81570	CLPB	HP:0002188	Delayed CNS myelination
81570	CLPB	HP:0002197	Generalized-onset seizure
81570	CLPB	HP:0002194	Delayed gross motor development
81570	CLPB	HP:0002179	Opisthotonus
81570	CLPB	HP:0033229	Brachioradialis areflexia
81570	CLPB	HP:0003593	Infantile onset
81570	CLPB	HP:0003577	Congenital onset
81570	CLPB	HP:0003535	3-Methylglutaconic aciduria
81570	CLPB	HP:0011968	Feeding difficulties
81570	CLPB	HP:0004823	Anisopoikilocytosis
81570	CLPB	HP:0004808	Acute myeloid leukemia
81570	CLPB	HP:0001028	Hemangioma
81570	CLPB	HP:0002376	Developmental regression
81570	CLPB	HP:0003676	Progressive
81570	CLPB	HP:0100658	Cellulitis
81570	CLPB	HP:0033454	Tube feeding
81570	CLPB	HP:0007153	Progressive extrapyramidal movement disorder
81570	CLPB	HP:0003623	Neonatal onset
81570	CLPB	HP:0005528	Bone marrow hypocellularity
81570	CLPB	HP:0000639	Nystagmus
81570	CLPB	HP:0001944	Dehydration
81570	CLPB	HP:0001945	Fever
81570	CLPB	HP:0000629	Periorbital fullness
81570	CLPB	HP:0001909	Leukemia
81570	CLPB	HP:0001903	Anemia
81570	CLPB	HP:0001915	Aplastic anemia
81570	CLPB	HP:0001998	Neonatal hypoglycemia
81570	CLPB	HP:0000750	Delayed speech and language development
81570	CLPB	HP:0000704	Periodontitis
81570	CLPB	HP:0011463	Childhood onset
81570	CLPB	HP:0011461	Fetal onset
81570	CLPB	HP:0011451	Primary microcephaly
81570	CLPB	HP:0004429	Recurrent viral infections
81570	CLPB	HP:0000821	Hypothyroidism
81570	CLPB	HP:0000938	Osteopenia
81570	CLPB	HP:0000252	Microcephaly
81570	CLPB	HP:0001581	Recurrent skin infections
81570	CLPB	HP:0002878	Respiratory failure
81570	CLPB	HP:0000230	Gingivitis
81570	CLPB	HP:0001561	Polyhydramnios
81570	CLPB	HP:0001558	Decreased fetal movement
81570	CLPB	HP:0000211	Trismus
81570	CLPB	HP:0002863	Myelodysplasia
81570	CLPB	HP:0001511	Intrauterine growth retardation
81570	CLPB	HP:0001510	Growth delay
81570	CLPB	HP:0012384	Rhinitis
81570	CLPB	HP:0006532	Recurrent pneumonia
81570	CLPB	HP:0002910	Elevated hepatic transaminase
81570	CLPB	HP:0006480	Premature loss of teeth
81570	CLPB	HP:0000347	Micrognathia
81570	CLPB	HP:0032794	Myoclonic seizure
81570	CLPB	HP:0012311	Monocytosis
81570	CLPB	HP:0001635	Congestive heart failure
81570	CLPB	HP:0001638	Cardiomyopathy
81570	CLPB	HP:0011107	Recurrent aphthous stomatitis
81570	CLPB	HP:0000414	Bulbous nose
81570	CLPB	HP:0001744	Splenomegaly
81570	CLPB	HP:0005425	Recurrent sinopulmonary infections
81570	CLPB	HP:0006721	Acute lymphoblastic leukemia
81570	CLPB	HP:0005484	Secondary microcephaly
81570	CLPB	HP:0000518	Cataract
81570	CLPB	HP:0001892	Abnormal bleeding
81570	CLPB	HP:0001888	Lymphopenia
81570	CLPB	HP:0001880	Eosinophilia
81570	CLPB	HP:0001882	Leukopenia
81570	CLPB	HP:0001873	Thrombocytopenia
81570	CLPB	HP:0001875	Neutropenia
81603	TRIM8	HP:0007270	Atypical absence seizure
81603	TRIM8	HP:0010864	Intellectual disability, severe
81603	TRIM8	HP:0010851	EEG with burst suppression
81603	TRIM8	HP:0010850	EEG with spike-wave complexes
81603	TRIM8	HP:0002421	Poor head control
81603	TRIM8	HP:0001272	Cerebellar atrophy
81603	TRIM8	HP:0001250	Seizure
81603	TRIM8	HP:0001252	Hypotonia
81603	TRIM8	HP:0001251	Ataxia
81603	TRIM8	HP:0001249	Intellectual disability
81603	TRIM8	HP:0001265	Hyporeflexia
81603	TRIM8	HP:0001266	Choreoathetosis
81603	TRIM8	HP:0001263	Global developmental delay
81603	TRIM8	HP:0001257	Spasticity
81603	TRIM8	HP:0033719	EEG with parietal epileptiform discharges
81603	TRIM8	HP:0008763	No social interaction
81603	TRIM8	HP:0007359	Focal-onset seizure
81603	TRIM8	HP:0007334	Bilateral tonic-clonic seizure with focal onset
81603	TRIM8	HP:0002521	Hypsarrhythmia
81603	TRIM8	HP:0002506	Diffuse cerebral atrophy
81603	TRIM8	HP:0000099	Glomerulonephritis
81603	TRIM8	HP:0000096	Glomerular sclerosis
81603	TRIM8	HP:0000093	Proteinuria
81603	TRIM8	HP:0000070	Ureterocele
81603	TRIM8	HP:0025336	Delayed ability to sit
81603	TRIM8	HP:0000054	Micropenis
81603	TRIM8	HP:0001388	Joint laxity
81603	TRIM8	HP:0000047	Hypospadias
81603	TRIM8	HP:0001332	Dystonia
81603	TRIM8	HP:0033720	EEG with occipital epileptiform discharges
81603	TRIM8	HP:0001344	Absent speech
81603	TRIM8	HP:0001337	Tremor
81603	TRIM8	HP:0000006	Autosomal dominant inheritance
81603	TRIM8	HP:0001336	Myoclonus
81603	TRIM8	HP:0001302	Pachygyria
81603	TRIM8	HP:0000175	Cleft palate
81603	TRIM8	HP:0008947	Infantile muscular hypotonia
81603	TRIM8	HP:0000100	Nephrotic syndrome
81603	TRIM8	HP:0000110	Renal dysplasia
81603	TRIM8	HP:0002069	Bilateral tonic-clonic seizure
81603	TRIM8	HP:0002079	Hypoplasia of the corpus callosum
81603	TRIM8	HP:0002120	Cerebral cortical atrophy
81603	TRIM8	HP:0002121	Generalized non-motor (absence) seizure
81603	TRIM8	HP:0002131	Episodic ataxia
81603	TRIM8	HP:0002188	Delayed CNS myelination
81603	TRIM8	HP:0100716	Self-injurious behavior
81603	TRIM8	HP:0002213	Fine hair
81603	TRIM8	HP:0002384	Focal impaired awareness seizure
81603	TRIM8	HP:0002360	Sleep disturbance
81603	TRIM8	HP:0002376	Developmental regression
81603	TRIM8	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
81603	TRIM8	HP:0002353	EEG abnormality
81603	TRIM8	HP:0002346	Head tremor
81603	TRIM8	HP:0007204	Diffuse white matter abnormalities
81603	TRIM8	HP:0100660	Dyskinesia
81603	TRIM8	HP:0010819	Atonic seizure
81603	TRIM8	HP:0010818	Generalized tonic seizure
81603	TRIM8	HP:0011344	Severe global developmental delay
81603	TRIM8	HP:0000664	Synophrys
81603	TRIM8	HP:0031936	Delayed ability to walk
81603	TRIM8	HP:0000752	Hyperactivity
81603	TRIM8	HP:0000729	Autistic behavior
81603	TRIM8	HP:0010174	Broad phalanx of the toes
81603	TRIM8	HP:0000826	Precocious puberty
81603	TRIM8	HP:0000954	Single transverse palmar crease
81603	TRIM8	HP:0009381	Short finger
81603	TRIM8	HP:0002827	Hip dislocation
81603	TRIM8	HP:0000252	Microcephaly
81603	TRIM8	HP:0000212	Gingival overgrowth
81603	TRIM8	HP:0001537	Umbilical hernia
81603	TRIM8	HP:0001508	Failure to thrive
81603	TRIM8	HP:0001500	Broad finger
81603	TRIM8	HP:0001510	Growth delay
81603	TRIM8	HP:0000340	Sloping forehead
81603	TRIM8	HP:0000343	Long philtrum
81603	TRIM8	HP:0032792	Tonic seizure
81603	TRIM8	HP:0000319	Smooth philtrum
81603	TRIM8	HP:0031491	Continuous spike and waves during slow sleep
81603	TRIM8	HP:0001629	Ventricular septal defect
81603	TRIM8	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
81603	TRIM8	HP:0011169	Generalized clonic seizure
81603	TRIM8	HP:0005280	Depressed nasal bridge
81603	TRIM8	HP:0000486	Strabismus
81603	TRIM8	HP:0012469	Infantile spasms
81603	TRIM8	HP:0000490	Deeply set eye
81603	TRIM8	HP:0000463	Anteverted nares
81603	TRIM8	HP:0012448	Delayed myelination
81603	TRIM8	HP:0012450	Chronic constipation
81603	TRIM8	HP:0012554	Absent thumbnail
81607	NECTIN4	HP:0003777	Pili torti
81607	NECTIN4	HP:0002550	Absent facial hair
81607	NECTIN4	HP:0000007	Autosomal recessive inheritance
81607	NECTIN4	HP:0006297	Enamel hypoplasia
81607	NECTIN4	HP:0004692	4-5 toe syndactyly
81607	NECTIN4	HP:0002046	Heat intolerance
81607	NECTIN4	HP:0010554	Cutaneous finger syndactyly
81607	NECTIN4	HP:0003577	Congenital onset
81607	NECTIN4	HP:0002232	Patchy alopecia
81607	NECTIN4	HP:0002209	Sparse scalp hair
81607	NECTIN4	HP:0002208	Coarse hair
81607	NECTIN4	HP:0010709	2-4 finger syndactyly
81607	NECTIN4	HP:0010765	Palmar hyperkeratosis
81607	NECTIN4	HP:0000698	Conical tooth
81607	NECTIN4	HP:0000687	Widely spaced teeth
81607	NECTIN4	HP:0000653	Sparse eyelashes
81607	NECTIN4	HP:0005709	2-3 toe cutaneous syndactyly
81607	NECTIN4	HP:0000968	Ectodermal dysplasia
81607	NECTIN4	HP:0001596	Alopecia
81607	NECTIN4	HP:0001792	Small nail
81607	NECTIN4	HP:0001800	Hypoplastic toenails
81608	FIP1L1	HP:0031035	Chronic infection
81608	FIP1L1	HP:0031020	Bone marrow hypercellularity
81608	FIP1L1	HP:0001324	Muscle weakness
81608	FIP1L1	HP:0002653	Bone pain
81608	FIP1L1	HP:0025420	Diffuse alveolar hemorrhage
81608	FIP1L1	HP:0031245	Productive cough
81608	FIP1L1	HP:0002716	Lymphadenopathy
81608	FIP1L1	HP:0002027	Abdominal pain
81608	FIP1L1	HP:0030955	Alcoholism
81608	FIP1L1	HP:0002039	Anorexia
81608	FIP1L1	HP:0011900	Hypofibrinogenemia
81608	FIP1L1	HP:0100758	Gangrene
81608	FIP1L1	HP:0002321	Vertigo
81608	FIP1L1	HP:0100608	Metrorrhagia
81608	FIP1L1	HP:0005521	Disseminated intravascular coagulation
81608	FIP1L1	HP:0001974	Leukocytosis
81608	FIP1L1	HP:0001945	Fever
81608	FIP1L1	HP:0001903	Anemia
81608	FIP1L1	HP:0000790	Hematuria
81608	FIP1L1	HP:0010280	Stomatitis
81608	FIP1L1	HP:0000979	Purpura
81608	FIP1L1	HP:0000978	Bruising susceptibility
81608	FIP1L1	HP:0000967	Petechiae
81608	FIP1L1	HP:0000212	Gingival overgrowth
81608	FIP1L1	HP:0002875	Exertional dyspnea
81608	FIP1L1	HP:0000225	Gingival bleeding
81608	FIP1L1	HP:0031364	Ecchymosis
81608	FIP1L1	HP:0012378	Fatigue
81608	FIP1L1	HP:0030140	Oral cavity bleeding
81608	FIP1L1	HP:0000421	Epistaxis
81608	FIP1L1	HP:0001824	Weight loss
81608	FIP1L1	HP:0001892	Abnormal bleeding
81608	FIP1L1	HP:0001882	Leukopenia
81608	FIP1L1	HP:0001873	Thrombocytopenia
81608	FIP1L1	HP:0001876	Pancytopenia
81608	FIP1L1	HP:0001875	Neutropenia
81614	NIPA2	HP:0001270	Motor delay
81614	NIPA2	HP:0001250	Seizure
81614	NIPA2	HP:0001251	Ataxia
81614	NIPA2	HP:0001249	Intellectual disability
81614	NIPA2	HP:0001263	Global developmental delay
81614	NIPA2	HP:0410263	Brain imaging abnormality
81614	NIPA2	HP:0000174	Abnormal palate morphology
81614	NIPA2	HP:0002198	Dilated fourth ventricle
81614	NIPA2	HP:0002172	Postural instability
81614	NIPA2	HP:0010522	Dyslexia
81614	NIPA2	HP:0100716	Self-injurious behavior
81614	NIPA2	HP:0100753	Schizophrenia
81614	NIPA2	HP:0007018	Attention deficit hyperactivity disorder
81614	NIPA2	HP:0002370	Poor coordination
81614	NIPA2	HP:0002354	Memory impairment
81614	NIPA2	HP:0006891	Thick cerebral cortex
81614	NIPA2	HP:0001999	Abnormal facial shape
81614	NIPA2	HP:0000736	Short attention span
81614	NIPA2	HP:0000750	Delayed speech and language development
81614	NIPA2	HP:0000717	Autism
81614	NIPA2	HP:0000729	Autistic behavior
81614	NIPA2	HP:0000708	Atypical behavior
81614	NIPA2	HP:0000252	Microcephaly
81614	NIPA2	HP:0000377	Abnormal pinna morphology
81614	NIPA2	HP:0005160	Total anomalous pulmonary venous return
81614	NIPA2	HP:0000337	Broad forehead
81614	NIPA2	HP:0001680	Coarctation of aorta
81614	NIPA2	HP:0001629	Ventricular septal defect
81614	NIPA2	HP:0001627	Abnormal heart morphology
81614	NIPA2	HP:0001636	Tetralogy of Fallot
81614	NIPA2	HP:0001631	Atrial septal defect
81620	CDT1	HP:0009939	Mandibular aplasia
81620	CDT1	HP:0009892	Anotia
81620	CDT1	HP:0008551	Microtia
81620	CDT1	HP:0001249	Intellectual disability
81620	CDT1	HP:0001263	Global developmental delay
81620	CDT1	HP:0008736	Hypoplasia of penis
81620	CDT1	HP:0008665	Clitoral hypertrophy
81620	CDT1	HP:0000064	Hypoplastic labia minora
81620	CDT1	HP:0000060	Clitoral hypoplasia
81620	CDT1	HP:0000059	Hypoplastic labia majora
81620	CDT1	HP:0000039	Epispadias
81620	CDT1	HP:0000047	Hypospadias
81620	CDT1	HP:0001363	Craniosynostosis
81620	CDT1	HP:0000028	Cryptorchidism
81620	CDT1	HP:0001328	Specific learning disability
81620	CDT1	HP:0000007	Autosomal recessive inheritance
81620	CDT1	HP:0000179	Thick lower lip vermilion
81620	CDT1	HP:0000193	Bifid uvula
81620	CDT1	HP:0000160	Narrow mouth
81620	CDT1	HP:0000176	Submucous cleft hard palate
81620	CDT1	HP:0000175	Cleft palate
81620	CDT1	HP:0002705	High, narrow palate
81620	CDT1	HP:0002750	Delayed skeletal maturation
81620	CDT1	HP:0002098	Respiratory distress
81620	CDT1	HP:0002097	Emphysema
81620	CDT1	HP:0002094	Dyspnea
81620	CDT1	HP:0005930	Abnormal epiphysis morphology
81620	CDT1	HP:0100490	Camptodactyly of finger
81620	CDT1	HP:0003577	Congenital onset
81620	CDT1	HP:0003561	Birth length less than 3rd percentile
81620	CDT1	HP:0100783	Breast aplasia
81620	CDT1	HP:0011968	Feeding difficulties
81620	CDT1	HP:0003510	Severe short stature
81620	CDT1	HP:0004209	Clinodactyly of the 5th finger
81620	CDT1	HP:0004322	Short stature
81620	CDT1	HP:0005692	Joint hyperflexibility
81620	CDT1	HP:0003042	Elbow dislocation
81620	CDT1	HP:0000772	Abnormal rib morphology
81620	CDT1	HP:0003100	Slender long bone
81620	CDT1	HP:0003187	Breast hypoplasia
81620	CDT1	HP:0000895	Lateral clavicle hook
81620	CDT1	HP:0000278	Retrognathia
81620	CDT1	HP:0006443	Patellar aplasia
81620	CDT1	HP:0002816	Genu recurvatum
81620	CDT1	HP:0000252	Microcephaly
81620	CDT1	HP:0002878	Respiratory failure
81620	CDT1	HP:0001508	Failure to thrive
81620	CDT1	HP:0001511	Intrauterine growth retardation
81620	CDT1	HP:0001510	Growth delay
81620	CDT1	HP:0000365	Hearing impairment
81620	CDT1	HP:0000356	Abnormality of the outer ear
81620	CDT1	HP:0000358	Posteriorly rotated ears
81620	CDT1	HP:0000369	Low-set ears
81620	CDT1	HP:0000347	Micrognathia
81620	CDT1	HP:0000327	Hypoplasia of the maxilla
81620	CDT1	HP:0006660	Aplastic clavicle
81620	CDT1	HP:0012471	Thick vermilion border
81620	CDT1	HP:0000413	Atresia of the external auditory canal
81620	CDT1	HP:0011267	Microtia, third degree
81622	UNC93B1	HP:0025143	Chills
81622	UNC93B1	HP:0001250	Seizure
81622	UNC93B1	HP:0001262	Excessive daytime somnolence
81622	UNC93B1	HP:0001259	Coma
81622	UNC93B1	HP:0001347	Hyperreflexia
81622	UNC93B1	HP:0031179	Nuchal rigidity
81622	UNC93B1	HP:0000007	Autosomal recessive inheritance
81622	UNC93B1	HP:0002721	Immunodeficiency
81622	UNC93B1	HP:0002017	Nausea and vomiting
81622	UNC93B1	HP:0030955	Alcoholism
81622	UNC93B1	HP:0002133	Status epilepticus
81622	UNC93B1	HP:0002181	Cerebral edema
81622	UNC93B1	HP:0002167	Abnormality of speech or vocalization
81622	UNC93B1	HP:0011897	Neutrophilia
81622	UNC93B1	HP:0004887	Respiratory failure requiring assisted ventilation
81622	UNC93B1	HP:0200149	CSF lymphocytic pleiocytosis
81622	UNC93B1	HP:0011972	Hypoglycorrhachia
81622	UNC93B1	HP:0002384	Focal impaired awareness seizure
81622	UNC93B1	HP:0002353	EEG abnormality
81622	UNC93B1	HP:0002349	Focal aware seizure
81622	UNC93B1	HP:0002315	Headache
81622	UNC93B1	HP:0007185	Loss of consciousness
81622	UNC93B1	HP:0001974	Leukocytosis
81622	UNC93B1	HP:0001945	Fever
81622	UNC93B1	HP:0004302	Functional motor deficit
81622	UNC93B1	HP:0004372	Reduced consciousness/confusion
81622	UNC93B1	HP:0012378	Fatigue
81622	UNC93B1	HP:0002922	Increased CSF protein concentration
81622	UNC93B1	HP:0002902	Hyponatremia
81622	UNC93B1	HP:0012302	Herpes simplex encephalitis
81622	UNC93B1	HP:0005353	Recurrent herpes
81622	UNC93B1	HP:0012443	Abnormality of brain morphology
81622	UNC93B1	HP:0011227	Elevated circulating C-reactive protein concentration
81624	DIAPH3	HP:0000006	Autosomal dominant inheritance
81624	DIAPH3	HP:0008529	Absence of acoustic reflex
81624	DIAPH3	HP:0003621	Juvenile onset
81624	DIAPH3	HP:0001963	Abnormal speech discrimination
81624	DIAPH3	HP:0006958	Abnormal auditory evoked potentials
81624	DIAPH3	HP:0011462	Young adult onset
81624	DIAPH3	HP:0000407	Sensorineural hearing impairment
81689	ISCA1	HP:0002415	Leukodystrophy
81689	ISCA1	HP:0001250	Seizure
81689	ISCA1	HP:0001263	Global developmental delay
81689	ISCA1	HP:0001257	Spasticity
81689	ISCA1	HP:0001347	Hyperreflexia
81689	ISCA1	HP:0000007	Autosomal recessive inheritance
81689	ISCA1	HP:0001302	Pachygyria
81689	ISCA1	HP:0002151	Increased serum lactate
81689	ISCA1	HP:0002119	Ventriculomegaly
81689	ISCA1	HP:0003593	Infantile onset
81689	ISCA1	HP:0011968	Feeding difficulties
81689	ISCA1	HP:0002376	Developmental regression
81689	ISCA1	HP:0003676	Progressive
81689	ISCA1	HP:0003236	Elevated circulating creatine kinase concentration
81689	ISCA1	HP:0000252	Microcephaly
81689	ISCA1	HP:0001510	Growth delay
81689	ISCA1	HP:0000486	Strabismus
81689	ISCA1	HP:0012448	Delayed myelination
81689	ISCA1	HP:0000580	Pigmentary retinopathy
81693	AMN	HP:0410216	Abnormal blood 5-methyltetrahydrofolate level
81693	AMN	HP:0001252	Hypotonia
81693	AMN	HP:0000083	Renal insufficiency
81693	AMN	HP:0000093	Proteinuria
81693	AMN	HP:0000007	Autosomal recessive inheritance
81693	AMN	HP:0032566	Oval macrocytosis
81693	AMN	HP:0002721	Immunodeficiency
81693	AMN	HP:0002019	Constipation
81693	AMN	HP:0002013	Vomiting
81693	AMN	HP:0100502	Vitamin B12 deficiency
81693	AMN	HP:0200118	Malabsorption of Vitamin B12
81693	AMN	HP:0020061	Abnormal hemoglobin concentration
81693	AMN	HP:0004823	Anisopoikilocytosis
81693	AMN	HP:0004821	Hypersegmentation of neutrophil nuclei
81693	AMN	HP:0002376	Developmental regression
81693	AMN	HP:0001972	Macrocytic anemia
81693	AMN	HP:0001923	Reticulocytosis
81693	AMN	HP:0004396	Poor appetite
81693	AMN	HP:0031936	Delayed ability to walk
81693	AMN	HP:0000750	Delayed speech and language development
81693	AMN	HP:0000707	Abnormality of the nervous system
81693	AMN	HP:0000980	Pallor
81693	AMN	HP:0000206	Glossitis
81693	AMN	HP:0001508	Failure to thrive
81693	AMN	HP:0001649	Tachycardia
81693	AMN	HP:0030318	Angular cheilitis
81693	AMN	HP:0001824	Weight loss
81693	AMN	HP:0001892	Abnormal bleeding
81693	AMN	HP:0001889	Megaloblastic anemia
81693	AMN	HP:0001873	Thrombocytopenia
81693	AMN	HP:0001876	Pancytopenia
81693	AMN	HP:0001875	Neutropenia
81704	DOCK8	HP:0410151	Eosinophilic infiltration of the esophagus
81704	DOCK8	HP:0010976	B lymphocytopenia
81704	DOCK8	HP:0000007	Autosomal recessive inheritance
81704	DOCK8	HP:0500093	Food allergy
81704	DOCK8	HP:0002718	Recurrent bacterial infections
81704	DOCK8	HP:0002099	Asthma
81704	DOCK8	HP:0002090	Pneumonia
81704	DOCK8	HP:0002138	Subarachnoid hemorrhage
81704	DOCK8	HP:0002110	Bronchiectasis
81704	DOCK8	HP:0003593	Infantile onset
81704	DOCK8	HP:0002205	Recurrent respiratory infections
81704	DOCK8	HP:0001047	Atopic dermatitis
81704	DOCK8	HP:0200043	Verrucae
81704	DOCK8	HP:0200042	Skin ulcer
81704	DOCK8	HP:0032185	Disseminated molluscum contagiosum
81704	DOCK8	HP:0002301	Hemiplegia
81704	DOCK8	HP:0004429	Recurrent viral infections
81704	DOCK8	HP:0003237	Increased circulating IgG level
81704	DOCK8	HP:0003212	Increased circulating IgE level
81704	DOCK8	HP:0040218	Reduced natural killer cell count
81704	DOCK8	HP:0000964	Eczema
81704	DOCK8	HP:0012203	Onychomycosis
81704	DOCK8	HP:0002860	Squamous cell carcinoma
81704	DOCK8	HP:0002850	Decreased circulating total IgM
81704	DOCK8	HP:0001510	Growth delay
81704	DOCK8	HP:0002841	Recurrent fungal infections
81704	DOCK8	HP:0000389	Chronic otitis media
81704	DOCK8	HP:0006532	Recurrent pneumonia
81704	DOCK8	HP:0005318	Cerebral vasculitis
81704	DOCK8	HP:0000403	Recurrent otitis media
81704	DOCK8	HP:0011108	Recurrent sinusitis
81704	DOCK8	HP:0005407	Decreased proportion of CD4-positive helper T cells
81704	DOCK8	HP:0005406	Recurrent bacterial skin infections
81704	DOCK8	HP:0005425	Recurrent sinopulmonary infections
81704	DOCK8	HP:0005403	T lymphocytopenia
81704	DOCK8	HP:0005401	Recurrent candida infections
81704	DOCK8	HP:0030417	Squamous cell carcinoma of the vulva
81704	DOCK8	HP:0006763	Anal canal squamous carcinoma
81704	DOCK8	HP:0001880	Eosinophilia
81788	NUAK2	HP:0000007	Autosomal recessive inheritance
81788	NUAK2	HP:0000161	Median cleft lip
81788	NUAK2	HP:0011803	Bifid nose
81788	NUAK2	HP:0003577	Congenital onset
81788	NUAK2	HP:0002323	Anencephaly
81788	NUAK2	HP:0009099	Median cleft palate
81788	NUAK2	HP:0012745	Short palpebral fissure
81788	NUAK2	HP:0010289	Cleft maxillary alveolar ridge
81788	NUAK2	HP:0000528	Anophthalmia
81790	RNF170	HP:0001152	Saccadic smooth pursuit
81790	RNF170	HP:0002495	Impaired vibratory sensation
81790	RNF170	HP:0010871	Sensory ataxia
81790	RNF170	HP:0002403	Positive Romberg sign
81790	RNF170	HP:0003700	Generalized amyotrophy
81790	RNF170	HP:0001272	Cerebellar atrophy
81790	RNF170	HP:0001270	Motor delay
81790	RNF170	HP:0001284	Areflexia
81790	RNF170	HP:0001265	Hyporeflexia
81790	RNF170	HP:0001260	Dysarthria
81790	RNF170	HP:0001258	Spastic paraplegia
81790	RNF170	HP:0007340	Lower limb muscle weakness
81790	RNF170	HP:0000020	Urinary incontinence
81790	RNF170	HP:0001348	Brisk reflexes
81790	RNF170	HP:0000007	Autosomal recessive inheritance
81790	RNF170	HP:0000006	Autosomal dominant inheritance
81790	RNF170	HP:0001317	Abnormal cerebellum morphology
81790	RNF170	HP:0002015	Dysphagia
81790	RNF170	HP:0002061	Lower limb spasticity
81790	RNF170	HP:0003477	Peripheral axonal neuropathy
81790	RNF170	HP:0003487	Babinski sign
81790	RNF170	HP:0003409	Distal sensory impairment of all modalities
81790	RNF170	HP:0003581	Adult onset
81790	RNF170	HP:0010830	Impaired tactile sensation
81790	RNF170	HP:0010831	Impaired proprioception
81790	RNF170	HP:0010829	Impaired temperature sensation
81790	RNF170	HP:0000648	Optic atrophy
81790	RNF170	HP:0006986	Upper limb spasticity
81790	RNF170	HP:0006962	Gait instability, worse in the dark
81790	RNF170	HP:0011463	Childhood onset
81790	RNF170	HP:0000473	Torticollis
81794	ADAMTS10	HP:0001169	Broad palm
81794	ADAMTS10	HP:0001156	Brachydactyly
81794	ADAMTS10	HP:0001256	Intellectual disability, mild
81794	ADAMTS10	HP:0001230	Broad metacarpals
81794	ADAMTS10	HP:0001376	Limitation of joint mobility
81794	ADAMTS10	HP:0001387	Joint stiffness
81794	ADAMTS10	HP:0002682	Broad skull
81794	ADAMTS10	HP:0000007	Autosomal recessive inheritance
81794	ADAMTS10	HP:0002650	Scoliosis
81794	ADAMTS10	HP:0000189	Narrow palate
81794	ADAMTS10	HP:0002753	Thin bony cortex
81794	ADAMTS10	HP:0030961	Microspherophakia
81794	ADAMTS10	HP:0003416	Spinal canal stenosis
81794	ADAMTS10	HP:0003508	Proportionate short stature
81794	ADAMTS10	HP:0001072	Thickened skin
81794	ADAMTS10	HP:0001083	Ectopia lentis
81794	ADAMTS10	HP:0009778	Short thumb
81794	ADAMTS10	HP:0009768	Broad phalanges of the hand
81794	ADAMTS10	HP:0000618	Blindness
81794	ADAMTS10	HP:0000692	Tooth malposition
81794	ADAMTS10	HP:0004322	Short stature
81794	ADAMTS10	HP:0030680	Abnormality of cardiovascular system morphology
81794	ADAMTS10	HP:0000885	Broad ribs
81794	ADAMTS10	HP:0000248	Brachycephaly
81794	ADAMTS10	HP:0002938	Lumbar hyperlordosis
81794	ADAMTS10	HP:0006482	Abnormality of dental morphology
81794	ADAMTS10	HP:0011003	High myopia
81794	ADAMTS10	HP:0001650	Aortic valve stenosis
81794	ADAMTS10	HP:0001643	Patent ductus arteriosus
81794	ADAMTS10	HP:0001642	Pulmonic stenosis
81794	ADAMTS10	HP:0000327	Hypoplasia of the maxilla
81794	ADAMTS10	HP:0001653	Mitral regurgitation
81794	ADAMTS10	HP:0001629	Ventricular septal defect
81794	ADAMTS10	HP:0005280	Depressed nasal bridge
81794	ADAMTS10	HP:0001783	Broad metatarsal
81794	ADAMTS10	HP:0000518	Cataract
81794	ADAMTS10	HP:0000501	Glaucoma
81794	ADAMTS10	HP:0000594	Shallow anterior chamber
81794	ADAMTS10	HP:0000586	Shallow orbits
81794	ADAMTS10	HP:0000572	Visual loss
81839	VANGL1	HP:0002475	Myelomeningocele
81839	VANGL1	HP:0002435	Meningocele
81839	VANGL1	HP:0020223	Dermal sinus tract
81839	VANGL1	HP:0007293	Anterior sacral meningocele
81839	VANGL1	HP:0025247	Dermoid cyst
81839	VANGL1	HP:0001287	Meningitis
81839	VANGL1	HP:0000083	Renal insufficiency
81839	VANGL1	HP:0000086	Ectopic kidney
81839	VANGL1	HP:0000062	Ambiguous genitalia
81839	VANGL1	HP:0000076	Vesicoureteral reflux
81839	VANGL1	HP:0000073	Ureteral duplication
81839	VANGL1	HP:0000069	Abnormality of the ureter
81839	VANGL1	HP:0012033	Sacral lipoma
81839	VANGL1	HP:0012032	Lipoma
81839	VANGL1	HP:0001387	Joint stiffness
81839	VANGL1	HP:0000020	Urinary incontinence
81839	VANGL1	HP:0000016	Urinary retention
81839	VANGL1	HP:0000028	Cryptorchidism
81839	VANGL1	HP:0000011	Neurogenic bladder
81839	VANGL1	HP:0000006	Autosomal dominant inheritance
81839	VANGL1	HP:0002650	Scoliosis
81839	VANGL1	HP:0001315	Reduced tendon reflexes
81839	VANGL1	HP:0002644	Abnormal pelvic girdle bone morphology
81839	VANGL1	HP:0002607	Bowel incontinence
81839	VANGL1	HP:0000104	Renal agenesis
81839	VANGL1	HP:0002023	Anal atresia
81839	VANGL1	HP:0002019	Constipation
81839	VANGL1	HP:0002089	Pulmonary hypoplasia
81839	VANGL1	HP:0100565	Hydromyelia
81839	VANGL1	HP:0002144	Tethered cord
81839	VANGL1	HP:0002139	Arrhinencephaly
81839	VANGL1	HP:0003418	Back pain
81839	VANGL1	HP:0011867	Abnormal iliac wing morphology
81839	VANGL1	HP:0003577	Congenital onset
81839	VANGL1	HP:0100710	Impulsivity
81839	VANGL1	HP:0001012	Multiple lipomas
81839	VANGL1	HP:0002323	Anencephaly
81839	VANGL1	HP:0002315	Headache
81839	VANGL1	HP:0008517	Aplasia/Hypoplasia of the sacrum
81839	VANGL1	HP:0009800	Maternal diabetes
81839	VANGL1	HP:0008482	Asymmetry of spinal facet joints
81839	VANGL1	HP:0008479	Hypoplastic vertebral bodies
81839	VANGL1	HP:0009790	Hemisacrum
81839	VANGL1	HP:0002308	Chiari malformation
81839	VANGL1	HP:0005640	Abnormal vertebral segmentation and fusion
81839	VANGL1	HP:0030680	Abnormality of cardiovascular system morphology
81839	VANGL1	HP:0003199	Decreased muscle mass
81839	VANGL1	HP:0000921	Missing ribs
81839	VANGL1	HP:0030708	Myeloschisis
81839	VANGL1	HP:0000822	Hypertension
81839	VANGL1	HP:0003298	Spina bifida occulta
81839	VANGL1	HP:0010305	Absence of the sacrum
81839	VANGL1	HP:0000960	Sacral dimple
81839	VANGL1	HP:0000238	Hydrocephalus
81839	VANGL1	HP:0000202	Orofacial cleft
81839	VANGL1	HP:0005224	Rectal abscess
81839	VANGL1	HP:0001776	Bilateral talipes equinovarus
81839	VANGL1	HP:0001762	Talipes equinovarus
81846	SBF2	HP:0001178	Ulnar claw
81846	SBF2	HP:0001171	Split hand
81846	SBF2	HP:0002460	Distal muscle weakness
81846	SBF2	HP:0007230	Decreased distal sensory nerve action potential
81846	SBF2	HP:0001270	Motor delay
81846	SBF2	HP:0001284	Areflexia
81846	SBF2	HP:0001265	Hyporeflexia
81846	SBF2	HP:0007340	Lower limb muscle weakness
81846	SBF2	HP:0002540	Inability to walk
81846	SBF2	HP:0002522	Areflexia of lower limbs
81846	SBF2	HP:0012046	Areflexia of upper limbs
81846	SBF2	HP:0001328	Specific learning disability
81846	SBF2	HP:0000007	Autosomal recessive inheritance
81846	SBF2	HP:0001337	Tremor
81846	SBF2	HP:0002650	Scoliosis
81846	SBF2	HP:0000183	Difficulty in tongue movements
81846	SBF2	HP:0008994	Proximal muscle weakness in lower limbs
81846	SBF2	HP:0008997	Proximal muscle weakness in upper limbs
81846	SBF2	HP:0008959	Distal upper limb muscle weakness
81846	SBF2	HP:0002792	Reduced vital capacity
81846	SBF2	HP:0002751	Kyphoscoliosis
81846	SBF2	HP:0002093	Respiratory insufficiency
81846	SBF2	HP:0003376	Steppage gait
81846	SBF2	HP:0003383	Onion bulb formation
81846	SBF2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
81846	SBF2	HP:0003481	Segmental peripheral demyelination/remyelination
81846	SBF2	HP:0003431	Decreased motor nerve conduction velocity
81846	SBF2	HP:0003401	Paresthesia
81846	SBF2	HP:0007010	Poor fine motor coordination
81846	SBF2	HP:0003693	Distal amyotrophy
81846	SBF2	HP:0001026	Penetrating foot ulcers
81846	SBF2	HP:0002355	Difficulty walking
81846	SBF2	HP:0001087	Developmental glaucoma
81846	SBF2	HP:0003621	Juvenile onset
81846	SBF2	HP:0000648	Optic atrophy
81846	SBF2	HP:0009053	Distal lower limb muscle weakness
81846	SBF2	HP:0009027	Foot dorsiflexor weakness
81846	SBF2	HP:0004336	Myelin outfoldings
81846	SBF2	HP:0000729	Autistic behavior
81846	SBF2	HP:0011463	Childhood onset
81846	SBF2	HP:0030051	Tip-toe gait
81846	SBF2	HP:0002936	Distal sensory impairment
81846	SBF2	HP:0001605	Vocal cord paralysis
81846	SBF2	HP:0001618	Dysphonia
81846	SBF2	HP:0030319	Weakness of facial musculature
81846	SBF2	HP:0000407	Sensorineural hearing impairment
81846	SBF2	HP:0012473	Tongue atrophy
81846	SBF2	HP:0030237	Hand muscle weakness
81846	SBF2	HP:0001763	Pes planus
81846	SBF2	HP:0001765	Hammertoe
81846	SBF2	HP:0001760	Abnormal foot morphology
81846	SBF2	HP:0001762	Talipes equinovarus
81846	SBF2	HP:0001761	Pes cavus
81846	SBF2	HP:0000518	Cataract
81846	SBF2	HP:0000508	Ptosis
81846	SBF2	HP:0000501	Glaucoma
81846	SBF2	HP:0000557	Buphthalmos
81848	SPRY4	HP:0003782	Eunuchoid habitus
81848	SPRY4	HP:0001288	Gait disturbance
81848	SPRY4	HP:0001250	Seizure
81848	SPRY4	HP:0001252	Hypotonia
81848	SPRY4	HP:0001251	Ataxia
81848	SPRY4	HP:0001260	Dysarthria
81848	SPRY4	HP:0008734	Decreased testicular size
81848	SPRY4	HP:0008736	Hypoplasia of penis
81848	SPRY4	HP:0008724	Hypoplasia of the ovary
81848	SPRY4	HP:0000044	Hypogonadotropic hypogonadism
81848	SPRY4	HP:0000054	Micropenis
81848	SPRY4	HP:0000026	Male hypogonadism
81848	SPRY4	HP:0000028	Cryptorchidism
81848	SPRY4	HP:0000027	Azoospermia
81848	SPRY4	HP:0000002	Abnormality of body height
81848	SPRY4	HP:0001324	Muscle weakness
81848	SPRY4	HP:0000013	Hypoplasia of the uterus
81848	SPRY4	HP:0000008	Abnormal morphology of female internal genitalia
81848	SPRY4	HP:0000007	Autosomal recessive inheritance
81848	SPRY4	HP:0001335	Bimanual synkinesia
81848	SPRY4	HP:0001337	Tremor
81848	SPRY4	HP:0000006	Autosomal dominant inheritance
81848	SPRY4	HP:0002652	Skeletal dysplasia
81848	SPRY4	HP:0000164	Abnormality of the dentition
81848	SPRY4	HP:0000175	Cleft palate
81848	SPRY4	HP:0000144	Decreased fertility
81848	SPRY4	HP:0000118	Phenotypic abnormality
81848	SPRY4	HP:0000134	Female hypogonadism
81848	SPRY4	HP:0002761	Generalized joint laxity
81848	SPRY4	HP:0002757	Recurrent fractures
81848	SPRY4	HP:0000104	Renal agenesis
81848	SPRY4	HP:0002750	Delayed skeletal maturation
81848	SPRY4	HP:0008197	Absence of pubertal development
81848	SPRY4	HP:0008187	Absence of secondary sex characteristics
81848	SPRY4	HP:0010550	Paraplegia
81848	SPRY4	HP:0002215	Sparse axillary hair
81848	SPRY4	HP:0002231	Sparse body hair
81848	SPRY4	HP:0002225	Sparse pubic hair
81848	SPRY4	HP:0011961	Non-obstructive azoospermia
81848	SPRY4	HP:0008527	Congenital sensorineural hearing impairment
81848	SPRY4	HP:0009804	Tooth agenesis
81848	SPRY4	HP:0100639	Erectile dysfunction
81848	SPRY4	HP:0003621	Juvenile onset
81848	SPRY4	HP:0000639	Nystagmus
81848	SPRY4	HP:0030680	Abnormality of cardiovascular system morphology
81848	SPRY4	HP:0000802	Impotence
81848	SPRY4	HP:0004349	Reduced bone mineral density
81848	SPRY4	HP:0000771	Gynecomastia
81848	SPRY4	HP:0000739	Anxiety
81848	SPRY4	HP:0000716	Depression
81848	SPRY4	HP:0000789	Infertility
81848	SPRY4	HP:0000786	Primary amenorrhea
81848	SPRY4	HP:0004409	Hyposmia
81848	SPRY4	HP:0004408	Abnormality of the sense of smell
81848	SPRY4	HP:0003187	Breast hypoplasia
81848	SPRY4	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
81848	SPRY4	HP:0000869	Secondary amenorrhea
81848	SPRY4	HP:0000830	Anterior hypopituitarism
81848	SPRY4	HP:0000823	Delayed puberty
81848	SPRY4	HP:0000939	Osteoporosis
81848	SPRY4	HP:0000938	Osteopenia
81848	SPRY4	HP:0040171	Decreased serum testosterone concentration
81848	SPRY4	HP:0008064	Ichthyosis
81848	SPRY4	HP:0030016	Dyspareunia
81848	SPRY4	HP:0030019	Increased female libido
81848	SPRY4	HP:0001513	Obesity
81848	SPRY4	HP:0012385	Camptodactyly
81848	SPRY4	HP:0001608	Abnormality of the voice
81848	SPRY4	HP:0000365	Hearing impairment
81848	SPRY4	HP:0000316	Hypertelorism
81848	SPRY4	HP:0006610	Wide intermamillary distance
81848	SPRY4	HP:0000407	Sensorineural hearing impairment
81848	SPRY4	HP:0005280	Depressed nasal bridge
81848	SPRY4	HP:0000458	Anosmia
81848	SPRY4	HP:0001763	Pes planus
81848	SPRY4	HP:0001761	Pes cavus
81848	SPRY4	HP:0000508	Ptosis
81848	SPRY4	HP:0000505	Visual impairment
81848	SPRY4	HP:0000551	Color vision defect
81857	MED25	HP:0001181	Adducted thumb
81857	MED25	HP:0002465	Poor speech
81857	MED25	HP:0002460	Distal muscle weakness
81857	MED25	HP:0009909	Uplifted earlobe
81857	MED25	HP:0001274	Agenesis of corpus callosum
81857	MED25	HP:0001284	Areflexia
81857	MED25	HP:0001250	Seizure
81857	MED25	HP:0001252	Hypotonia
81857	MED25	HP:0001265	Hyporeflexia
81857	MED25	HP:0001263	Global developmental delay
81857	MED25	HP:0001257	Spasticity
81857	MED25	HP:0006101	Finger syndactyly
81857	MED25	HP:0007413	Nevus flammeus of the forehead
81857	MED25	HP:0008665	Clitoral hypertrophy
81857	MED25	HP:0002540	Inability to walk
81857	MED25	HP:0000047	Hypospadias
81857	MED25	HP:0000023	Inguinal hernia
81857	MED25	HP:0001344	Absent speech
81857	MED25	HP:0000007	Autosomal recessive inheritance
81857	MED25	HP:0002650	Scoliosis
81857	MED25	HP:0001315	Reduced tendon reflexes
81857	MED25	HP:0000175	Cleft palate
81857	MED25	HP:0002705	High, narrow palate
81857	MED25	HP:0000126	Hydronephrosis
81857	MED25	HP:0002020	Gastroesophageal reflux
81857	MED25	HP:0002019	Constipation
81857	MED25	HP:0004691	2-3 toe syndactyly
81857	MED25	HP:0002092	Pulmonary arterial hypertension
81857	MED25	HP:0002079	Hypoplasia of the corpus callosum
81857	MED25	HP:0002059	Cerebral atrophy
81857	MED25	HP:0009468	Deviation of the 2nd finger
81857	MED25	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger
81857	MED25	HP:0002119	Ventriculomegaly
81857	MED25	HP:0003431	Decreased motor nerve conduction velocity
81857	MED25	HP:0010557	Overlapping fingers
81857	MED25	HP:0002263	Exaggerated cupid's bow
81857	MED25	HP:0003593	Infantile onset
81857	MED25	HP:0003577	Congenital onset
81857	MED25	HP:0003581	Adult onset
81857	MED25	HP:0002209	Sparse scalp hair
81857	MED25	HP:0032077	Male urethral meatus stenosis
81857	MED25	HP:0007082	Dilated third ventricle
81857	MED25	HP:0002389	Cavum septum pellucidum
81857	MED25	HP:0003693	Distal amyotrophy
81857	MED25	HP:0002342	Intellectual disability, moderate
81857	MED25	HP:0002355	Difficulty walking
81857	MED25	HP:0010804	Tented upper lip vermilion
81857	MED25	HP:0001081	Cholelithiasis
81857	MED25	HP:0008499	High hypermetropia
81857	MED25	HP:0000646	Amblyopia
81857	MED25	HP:0011344	Severe global developmental delay
81857	MED25	HP:0006956	Lateral ventricle dilatation
81857	MED25	HP:0010186	Broad distal phalanx of the toes
81857	MED25	HP:0000768	Pectus carinatum
81857	MED25	HP:0000718	Aggressive behavior
81857	MED25	HP:0045075	Sparse eyebrow
81857	MED25	HP:0000954	Single transverse palmar crease
81857	MED25	HP:0008070	Sparse hair
81857	MED25	HP:0011670	Left superior vena cava draining to coronary sinus
81857	MED25	HP:0000286	Epicanthus
81857	MED25	HP:0000278	Retrognathia
81857	MED25	HP:0030084	Clinodactyly
81857	MED25	HP:0002808	Kyphosis
81857	MED25	HP:0000252	Microcephaly
81857	MED25	HP:0000221	Furrowed tongue
81857	MED25	HP:0000218	High palate
81857	MED25	HP:0000232	Everted lower lip vermilion
81857	MED25	HP:0006532	Recurrent pneumonia
81857	MED25	HP:0002936	Distal sensory impairment
81857	MED25	HP:0000369	Low-set ears
81857	MED25	HP:0000348	High forehead
81857	MED25	HP:0000316	Hypertelorism
81857	MED25	HP:0000322	Short philtrum
81857	MED25	HP:0001629	Ventricular septal defect
81857	MED25	HP:0001631	Atrial septal defect
81857	MED25	HP:0000303	Mandibular prognathia
81857	MED25	HP:0005274	Prominent nasal tip
81857	MED25	HP:0000486	Strabismus
81857	MED25	HP:0000482	Microcornea
81857	MED25	HP:0000494	Downslanted palpebral fissures
81857	MED25	HP:0000463	Anteverted nares
81857	MED25	HP:0001761	Pes cavus
81857	MED25	HP:0000518	Cataract
81857	MED25	HP:0000519	Developmental cataract
81857	MED25	HP:0001845	Overlapping toe
81857	MED25	HP:0000508	Ptosis
81857	MED25	HP:0000568	Microphthalmia
81887	LAS1L	HP:0001182	Tapered finger
81887	LAS1L	HP:0002465	Poor speech
81887	LAS1L	HP:0009909	Uplifted earlobe
81887	LAS1L	HP:0008551	Microtia
81887	LAS1L	HP:0025268	Stuttering
81887	LAS1L	HP:0001250	Seizure
81887	LAS1L	HP:0001249	Intellectual disability
81887	LAS1L	HP:0001263	Global developmental delay
81887	LAS1L	HP:0000044	Hypogonadotropic hypogonadism
81887	LAS1L	HP:0000028	Cryptorchidism
81887	LAS1L	HP:0001328	Specific learning disability
81887	LAS1L	HP:0001344	Absent speech
81887	LAS1L	HP:0001419	X-linked recessive inheritance
81887	LAS1L	HP:0010620	Malar prominence
81887	LAS1L	HP:0200055	Small hand
81887	LAS1L	HP:0001956	Truncal obesity
81887	LAS1L	HP:0001999	Abnormal facial shape
81887	LAS1L	HP:0004322	Short stature
81887	LAS1L	HP:0000771	Gynecomastia
81887	LAS1L	HP:0000750	Delayed speech and language development
81887	LAS1L	HP:0000712	Emotional lability
81887	LAS1L	HP:0000252	Microcephaly
81887	LAS1L	HP:0000219	Thin upper lip vermilion
81887	LAS1L	HP:0001513	Obesity
81887	LAS1L	HP:0000336	Prominent supraorbital ridges
81887	LAS1L	HP:0000347	Micrognathia
81887	LAS1L	HP:0000490	Deeply set eye
81887	LAS1L	HP:0000455	Broad nasal tip
81887	LAS1L	HP:0001773	Short foot
81887	LAS1L	HP:0001763	Pes planus
81887	LAS1L	HP:0001761	Pes cavus
81887	LAS1L	HP:0000518	Cataract
81887	LAS1L	HP:0000574	Thick eyebrow
81887	LAS1L	HP:0000540	Hypermetropia
83394	PITPNM3	HP:0000006	Autosomal dominant inheritance
83394	PITPNM3	HP:0007663	Reduced visual acuity
83394	PITPNM3	HP:0000613	Photophobia
83394	PITPNM3	HP:0000608	Macular degeneration
83394	PITPNM3	HP:0000603	Central scotoma
83394	PITPNM3	HP:0000662	Nyctalopia
83394	PITPNM3	HP:0011463	Childhood onset
83394	PITPNM3	HP:0007703	Abnormality of retinal pigmentation
83394	PITPNM3	HP:0007814	Retinal pigment epithelial mottling
83394	PITPNM3	HP:0000505	Visual impairment
83394	PITPNM3	HP:0000551	Color vision defect
83394	PITPNM3	HP:0000548	Cone/cone-rod dystrophy
83449	PMFBP1	HP:0000007	Autosomal recessive inheritance
83449	PMFBP1	HP:0008226	Androgen insufficiency
83449	PMFBP1	HP:0000798	Oligospermia
83449	PMFBP1	HP:0012867	Abnormal sperm mid-piece morphology
83449	PMFBP1	HP:0012869	Acephalic spermatozoa
83449	PMFBP1	HP:0003251	Male infertility
83449	PMFBP1	HP:0012207	Reduced sperm motility
83449	PMFBP1	HP:0002916	Abnormality of chromosome segregation
83452	RAB33B	HP:0001249	Intellectual disability
83452	RAB33B	HP:0006009	Broad phalanx
83452	RAB33B	HP:0008812	Flattened femoral head
83452	RAB33B	HP:0001377	Limited elbow extension
83452	RAB33B	HP:0000007	Autosomal recessive inheritance
83452	RAB33B	HP:0006247	Enlarged interphalangeal joints
83452	RAB33B	HP:0003311	Hypoplasia of the odontoid process
83452	RAB33B	HP:0003307	Hyperlordosis
83452	RAB33B	HP:0003521	Disproportionate short-trunk short stature
83452	RAB33B	HP:0009803	Short phalanx of finger
83452	RAB33B	HP:0010743	Short metatarsal
83452	RAB33B	HP:0010049	Short metacarpal
83452	RAB33B	HP:0004325	Decreased body weight
83452	RAB33B	HP:0004322	Short stature
83452	RAB33B	HP:0003071	Flattened epiphysis
83452	RAB33B	HP:0003025	Metaphyseal irregularity
83452	RAB33B	HP:0000768	Pectus carinatum
83452	RAB33B	HP:0011463	Childhood onset
83452	RAB33B	HP:0000926	Platyspondyly
83452	RAB33B	HP:0003180	Flat acetabular roof
83452	RAB33B	HP:0000280	Coarse facial features
83452	RAB33B	HP:0006429	Broad femoral neck
83452	RAB33B	HP:0001552	Barrel-shaped chest
83452	RAB33B	HP:0002857	Genu valgum
83452	RAB33B	HP:0000303	Mandibular prognathia
83452	RAB33B	HP:0000470	Short neck
83452	RAB33B	HP:0012428	Prominent calcaneus
83452	RAB33B	HP:0001763	Pes planus
83452	RAB33B	HP:0001783	Broad metatarsal
83475	DOHH	HP:0010880	Increased nuchal translucency
83475	DOHH	HP:0001272	Cerebellar atrophy
83475	DOHH	HP:0001252	Hypotonia
83475	DOHH	HP:0001249	Intellectual disability
83475	DOHH	HP:0001263	Global developmental delay
83475	DOHH	HP:0002540	Inability to walk
83475	DOHH	HP:0033725	Thin corpus callosum
83475	DOHH	HP:0001344	Absent speech
83475	DOHH	HP:0000007	Autosomal recessive inheritance
83475	DOHH	HP:0002719	Recurrent infections
83475	DOHH	HP:0002069	Bilateral tonic-clonic seizure
83475	DOHH	HP:0002078	Truncal ataxia
83475	DOHH	HP:0011705	First degree atrioventricular block
83475	DOHH	HP:0002119	Ventriculomegaly
83475	DOHH	HP:0002188	Delayed CNS myelination
83475	DOHH	HP:0002197	Generalized-onset seizure
83475	DOHH	HP:0003577	Congenital onset
83475	DOHH	HP:0100704	Cerebral visual impairment
83475	DOHH	HP:0002283	Global brain atrophy
83475	DOHH	HP:0011968	Feeding difficulties
83475	DOHH	HP:0010819	Atonic seizure
83475	DOHH	HP:0003623	Neonatal onset
83475	DOHH	HP:0000639	Nystagmus
83475	DOHH	HP:0011577	Partial atrioventricular canal defect
83475	DOHH	HP:0000252	Microcephaly
83475	DOHH	HP:0005180	Tricuspid regurgitation
83475	DOHH	HP:0005165	Shortened PR interval
83475	DOHH	HP:0011003	High myopia
83475	DOHH	HP:0001684	Secundum atrial septal defect
83475	DOHH	HP:0001680	Coarctation of aorta
83475	DOHH	HP:0001647	Bicuspid aortic valve
83475	DOHH	HP:0001659	Aortic regurgitation
83475	DOHH	HP:0001653	Mitral regurgitation
83475	DOHH	HP:0001629	Ventricular septal defect
83475	DOHH	HP:0001640	Cardiomegaly
83475	DOHH	HP:0001635	Congestive heart failure
83475	DOHH	HP:0001631	Atrial septal defect
83475	DOHH	HP:0006682	Premature ventricular contraction
83475	DOHH	HP:0000486	Strabismus
83478	ARHGAP24	HP:0003774	Stage 5 chronic kidney disease
83478	ARHGAP24	HP:0002586	Peritonitis
83478	ARHGAP24	HP:0000097	Focal segmental glomerulosclerosis
83478	ARHGAP24	HP:0000093	Proteinuria
83478	ARHGAP24	HP:0002027	Abdominal pain
83478	ARHGAP24	HP:0100539	Periorbital edema
83478	ARHGAP24	HP:0011947	Respiratory tract infection
83478	ARHGAP24	HP:0002315	Headache
83478	ARHGAP24	HP:0012622	Chronic kidney disease
83478	ARHGAP24	HP:0001967	Diffuse mesangial sclerosis
83478	ARHGAP24	HP:0001945	Fever
83478	ARHGAP24	HP:0003073	Hypoalbuminemia
83478	ARHGAP24	HP:0000737	Irritability
83478	ARHGAP24	HP:0000707	Abnormality of the nervous system
83478	ARHGAP24	HP:0000969	Edema
83478	ARHGAP24	HP:0031504	Foamy urine
83478	ARHGAP24	HP:0012579	Minimal change glomerulonephritis
83479	DDX59	HP:0001162	Postaxial hand polydactyly
83479	DDX59	HP:0001274	Agenesis of corpus callosum
83479	DDX59	HP:0001249	Intellectual disability
83479	DDX59	HP:0001263	Global developmental delay
83479	DDX59	HP:0000085	Horseshoe kidney
83479	DDX59	HP:0000007	Autosomal recessive inheritance
83479	DDX59	HP:0002650	Scoliosis
83479	DDX59	HP:0000185	Cleft soft palate
83479	DDX59	HP:0000180	Lobulated tongue
83479	DDX59	HP:0000193	Bifid uvula
83479	DDX59	HP:0000190	Abnormal oral frenulum morphology
83479	DDX59	HP:0000191	Accessory oral frenulum
83479	DDX59	HP:0000161	Median cleft lip
83479	DDX59	HP:0000175	Cleft palate
83479	DDX59	HP:0007687	Unilateral ptosis
83479	DDX59	HP:0002705	High, narrow palate
83479	DDX59	HP:0006297	Enamel hypoplasia
83479	DDX59	HP:0002007	Frontal bossing
83479	DDX59	HP:0011802	Hamartoma of tongue
83479	DDX59	HP:0010441	Ectopic accessory finger-like appendage
83479	DDX59	HP:0004736	Crossed fused renal ectopia
83479	DDX59	HP:0003577	Congenital onset
83479	DDX59	HP:0002251	Aganglionic megacolon
83479	DDX59	HP:0002205	Recurrent respiratory infections
83479	DDX59	HP:0011968	Feeding difficulties
83479	DDX59	HP:0020045	Esodeviation
83479	DDX59	HP:0010800	Absent cupid's bow
83479	DDX59	HP:0000668	Hypodontia
83479	DDX59	HP:0012741	Unilateral cryptorchidism
83479	DDX59	HP:0012738	Agenesis of canine
83479	DDX59	HP:0100025	Overfriendliness
83479	DDX59	HP:0100335	Non-midline cleft lip
83479	DDX59	HP:0010297	Bifid tongue
83479	DDX59	HP:0010296	Ankyloglossia
83479	DDX59	HP:0100259	Postaxial polydactyly
83479	DDX59	HP:0005817	Postaxial polysyndactyly of foot
83479	DDX59	HP:0000288	Abnormality of the philtrum
83479	DDX59	HP:0000252	Microcephaly
83479	DDX59	HP:0000219	Thin upper lip vermilion
83479	DDX59	HP:0000218	High palate
83479	DDX59	HP:0011069	Supernumerary tooth
83479	DDX59	HP:0000365	Hearing impairment
83479	DDX59	HP:0000369	Low-set ears
83479	DDX59	HP:0000316	Hypertelorism
83479	DDX59	HP:0000324	Facial asymmetry
83479	DDX59	HP:0001629	Ventricular septal defect
83479	DDX59	HP:0001636	Tetralogy of Fallot
83479	DDX59	HP:0000494	Downslanted palpebral fissures
83479	DDX59	HP:0001852	Sandal gap
83479	DDX59	HP:0001830	Postaxial foot polydactyly
83479	DDX59	HP:0000588	Optic disc coloboma
83480	PUS3	HP:0002465	Poor speech
83480	PUS3	HP:0010864	Intellectual disability, severe
83480	PUS3	HP:0001290	Generalized hypotonia
83480	PUS3	HP:0100814	Blue nevus
83480	PUS3	HP:0001288	Gait disturbance
83480	PUS3	HP:0001250	Seizure
83480	PUS3	HP:0001252	Hypotonia
83480	PUS3	HP:0001260	Dysarthria
83480	PUS3	HP:0001263	Global developmental delay
83480	PUS3	HP:0007334	Bilateral tonic-clonic seizure with focal onset
83480	PUS3	HP:0000093	Proteinuria
83480	PUS3	HP:0001347	Hyperreflexia
83480	PUS3	HP:0001344	Absent speech
83480	PUS3	HP:0000007	Autosomal recessive inheritance
83480	PUS3	HP:0000100	Nephrotic syndrome
83480	PUS3	HP:0002015	Dysphagia
83480	PUS3	HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI
83480	PUS3	HP:0002079	Hypoplasia of the corpus callosum
83480	PUS3	HP:0002059	Cerebral atrophy
83480	PUS3	HP:0002141	Gait imbalance
83480	PUS3	HP:0002120	Cerebral cortical atrophy
83480	PUS3	HP:0002119	Ventriculomegaly
83480	PUS3	HP:0002187	Intellectual disability, profound
83480	PUS3	HP:0002193	Pseudobulbar behavioral symptoms
83480	PUS3	HP:0003593	Infantile onset
83480	PUS3	HP:0100702	Arachnoid cyst
83480	PUS3	HP:0007052	Multifocal cerebral white matter abnormalities
83480	PUS3	HP:0002367	Visual hallucinations
83480	PUS3	HP:0002355	Difficulty walking
83480	PUS3	HP:0001970	Tubulointerstitial nephritis
83480	PUS3	HP:0012622	Chronic kidney disease
83480	PUS3	HP:0000639	Nystagmus
83480	PUS3	HP:0006989	Dysplastic corpus callosum
83480	PUS3	HP:0006956	Lateral ventricle dilatation
83480	PUS3	HP:0000735	Impaired social interactions
83480	PUS3	HP:0000718	Aggressive behavior
83480	PUS3	HP:0000709	Psychosis
83480	PUS3	HP:0000961	Cyanosis
83480	PUS3	HP:0000280	Coarse facial features
83480	PUS3	HP:0000253	Progressive microcephaly
83480	PUS3	HP:0000252	Microcephaly
83480	PUS3	HP:0012213	Decreased glomerular filtration rate
83480	PUS3	HP:0001531	Failure to thrive in infancy
83480	PUS3	HP:0002857	Genu valgum
83480	PUS3	HP:0000407	Sensorineural hearing impairment
83480	PUS3	HP:0000486	Strabismus
83480	PUS3	HP:0000505	Visual impairment
83480	PUS3	HP:0000592	Blue sclerae
83483	PLVAP	HP:0002573	Hematochezia
83483	PLVAP	HP:0012050	Anasarca
83483	PLVAP	HP:0000028	Cryptorchidism
83483	PLVAP	HP:0000007	Autosomal recessive inheritance
83483	PLVAP	HP:0002788	Recurrent upper respiratory tract infections
83483	PLVAP	HP:0000110	Renal dysplasia
83483	PLVAP	HP:0000103	Polyuria
83483	PLVAP	HP:0002155	Hypertriglyceridemia
83483	PLVAP	HP:0002243	Protein-losing enteropathy
83483	PLVAP	HP:0002202	Pleural effusion
83483	PLVAP	HP:0011968	Feeding difficulties
83483	PLVAP	HP:0003623	Neonatal onset
83483	PLVAP	HP:0001942	Metabolic acidosis
83483	PLVAP	HP:0004313	Decreased circulating antibody level
83483	PLVAP	HP:0003073	Hypoalbuminemia
83483	PLVAP	HP:0000821	Hypothyroidism
83483	PLVAP	HP:0001561	Polyhydramnios
83483	PLVAP	HP:0001522	Death in infancy
83483	PLVAP	HP:0001541	Ascites
83483	PLVAP	HP:0005208	Secretory diarrhea
83483	PLVAP	HP:0002917	Hypomagnesemia
83483	PLVAP	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
83483	PLVAP	HP:0002902	Hyponatremia
83483	PLVAP	HP:0002901	Hypocalcemia
83483	PLVAP	HP:0001698	Pericardial effusion
83483	PLVAP	HP:0000369	Low-set ears
83483	PLVAP	HP:0000347	Micrognathia
83483	PLVAP	HP:0000589	Coloboma
83538	ODAD4	HP:0025177	Peribronchovascular interstitial thickening
83538	ODAD4	HP:0002566	Intestinal malrotation
83538	ODAD4	HP:0001217	Clubbing
83538	ODAD4	HP:0000007	Autosomal recessive inheritance
83538	ODAD4	HP:0002643	Neonatal respiratory distress
83538	ODAD4	HP:0000119	Abnormality of the genitourinary system
83538	ODAD4	HP:0032543	Lithoptysis
83538	ODAD4	HP:0031245	Productive cough
83538	ODAD4	HP:0002011	Morphological central nervous system abnormality
83538	ODAD4	HP:0100582	Nasal polyposis
83538	ODAD4	HP:0002119	Ventriculomegaly
83538	ODAD4	HP:0002110	Bronchiectasis
83538	ODAD4	HP:0008222	Female infertility
83538	ODAD4	HP:0002257	Chronic rhinitis
83538	ODAD4	HP:0100750	Atelectasis
83538	ODAD4	HP:0032016	Abnormal sputum
83538	ODAD4	HP:0011947	Respiratory tract infection
83538	ODAD4	HP:0010772	Anomalous pulmonary venous return
83538	ODAD4	HP:0003623	Neonatal onset
83538	ODAD4	HP:0030680	Abnormality of cardiovascular system morphology
83538	ODAD4	HP:0000750	Delayed speech and language development
83538	ODAD4	HP:0000924	Abnormality of the skeletal system
83538	ODAD4	HP:0011539	Atrial situs ambiguous
83538	ODAD4	HP:0011535	Abnormal atrial arrangement
83538	ODAD4	HP:0030828	Wheezing
83538	ODAD4	HP:0003251	Male infertility
83538	ODAD4	HP:0011617	Pulmonary situs ambiguus
83538	ODAD4	HP:0033036	Decreased nasal nitric oxide
83538	ODAD4	HP:0025576	Abnormal inferior vena cava morphology
83538	ODAD4	HP:0000238	Hydrocephalus
83538	ODAD4	HP:0012206	Abnormal sperm motility
83538	ODAD4	HP:0002878	Respiratory failure
83538	ODAD4	HP:0000389	Chronic otitis media
83538	ODAD4	HP:0006532	Recurrent pneumonia
83538	ODAD4	HP:0006536	Airway obstruction
83538	ODAD4	HP:0001696	Situs inversus totalis
83538	ODAD4	HP:0000365	Hearing impairment
83538	ODAD4	HP:0001669	Transposition of the great arteries
83538	ODAD4	HP:0031456	Ectopic pregnancy
83538	ODAD4	HP:0001627	Abnormal heart morphology
83538	ODAD4	HP:0005301	Persistent left superior vena cava
83538	ODAD4	HP:0000403	Recurrent otitis media
83538	ODAD4	HP:0000405	Conductive hearing impairment
83538	ODAD4	HP:0001719	Double outlet right ventricle
83538	ODAD4	HP:0031565	Abdominal situs ambiguus
83538	ODAD4	HP:0011109	Chronic sinusitis
83538	ODAD4	HP:0001746	Asplenia
83538	ODAD4	HP:0001748	Polysplenia
83538	ODAD4	HP:0001742	Nasal congestion
83538	ODAD4	HP:0005425	Recurrent sinopulmonary infections
83538	ODAD4	HP:0011274	Recurrent mycobacterial infections
83538	ODAD4	HP:0000510	Rod-cone dystrophy
83544	DNAL1	HP:0025177	Peribronchovascular interstitial thickening
83544	DNAL1	HP:0002566	Intestinal malrotation
83544	DNAL1	HP:0001217	Clubbing
83544	DNAL1	HP:0000007	Autosomal recessive inheritance
83544	DNAL1	HP:0002643	Neonatal respiratory distress
83544	DNAL1	HP:0000119	Abnormality of the genitourinary system
83544	DNAL1	HP:0032543	Lithoptysis
83544	DNAL1	HP:0031245	Productive cough
83544	DNAL1	HP:0002011	Morphological central nervous system abnormality
83544	DNAL1	HP:0010444	Pulmonary insufficiency
83544	DNAL1	HP:0100582	Nasal polyposis
83544	DNAL1	HP:0002119	Ventriculomegaly
83544	DNAL1	HP:0002110	Bronchiectasis
83544	DNAL1	HP:0008222	Female infertility
83544	DNAL1	HP:0002257	Chronic rhinitis
83544	DNAL1	HP:0100750	Atelectasis
83544	DNAL1	HP:0032016	Abnormal sputum
83544	DNAL1	HP:0011947	Respiratory tract infection
83544	DNAL1	HP:0010772	Anomalous pulmonary venous return
83544	DNAL1	HP:0003623	Neonatal onset
83544	DNAL1	HP:0030680	Abnormality of cardiovascular system morphology
83544	DNAL1	HP:0000750	Delayed speech and language development
83544	DNAL1	HP:0000924	Abnormality of the skeletal system
83544	DNAL1	HP:0011539	Atrial situs ambiguous
83544	DNAL1	HP:0011535	Abnormal atrial arrangement
83544	DNAL1	HP:0030828	Wheezing
83544	DNAL1	HP:0003251	Male infertility
83544	DNAL1	HP:0011617	Pulmonary situs ambiguus
83544	DNAL1	HP:0025576	Abnormal inferior vena cava morphology
83544	DNAL1	HP:0012265	Ciliary dyskinesia
83544	DNAL1	HP:0012262	Abnormal ciliary motility
83544	DNAL1	HP:0012256	Absent outer dynein arms
83544	DNAL1	HP:0000238	Hydrocephalus
83544	DNAL1	HP:0012206	Abnormal sperm motility
83544	DNAL1	HP:0002878	Respiratory failure
83544	DNAL1	HP:0000389	Chronic otitis media
83544	DNAL1	HP:0006536	Airway obstruction
83544	DNAL1	HP:0001696	Situs inversus totalis
83544	DNAL1	HP:0000365	Hearing impairment
83544	DNAL1	HP:0001669	Transposition of the great arteries
83544	DNAL1	HP:0031456	Ectopic pregnancy
83544	DNAL1	HP:0001627	Abnormal heart morphology
83544	DNAL1	HP:0005301	Persistent left superior vena cava
83544	DNAL1	HP:0000403	Recurrent otitis media
83544	DNAL1	HP:0000405	Conductive hearing impairment
83544	DNAL1	HP:0001719	Double outlet right ventricle
83544	DNAL1	HP:0011109	Chronic sinusitis
83544	DNAL1	HP:0001746	Asplenia
83544	DNAL1	HP:0001748	Polysplenia
83544	DNAL1	HP:0001742	Nasal congestion
83544	DNAL1	HP:0005425	Recurrent sinopulmonary infections
83544	DNAL1	HP:0011274	Recurrent mycobacterial infections
83544	DNAL1	HP:0000510	Rod-cone dystrophy
83550	GPR101	HP:0001176	Large hands
83550	GPR101	HP:0001182	Tapered finger
83550	GPR101	HP:0025267	Snoring
83550	GPR101	HP:0100829	Galactorrhea
83550	GPR101	HP:0001250	Seizure
83550	GPR101	HP:0002591	Polyphagia
83550	GPR101	HP:0001231	Abnormal fingernail morphology
83550	GPR101	HP:0007440	Generalized hyperpigmentation
83550	GPR101	HP:0003859	Cortical diaphyseal thickening of the upper limbs
83550	GPR101	HP:0000098	Tall stature
83550	GPR101	HP:0000044	Hypogonadotropic hypogonadism
83550	GPR101	HP:0000040	Long penis
83550	GPR101	HP:0001386	Joint swelling
83550	GPR101	HP:0006191	Deep palmar crease
83550	GPR101	HP:0033794	Acral overgrowth
83550	GPR101	HP:0000179	Thick lower lip vermilion
83550	GPR101	HP:0000164	Abnormality of the dentition
83550	GPR101	HP:0000158	Macroglossia
83550	GPR101	HP:0002758	Osteoarthritis
83550	GPR101	HP:0001423	X-linked dominant inheritance
83550	GPR101	HP:0500001	Body odor
83550	GPR101	HP:0001417	X-linked inheritance
83550	GPR101	HP:0002007	Frontal bossing
83550	GPR101	HP:0100540	Palpebral edema
83550	GPR101	HP:0002076	Migraine
83550	GPR101	HP:0100518	Dysuria
83550	GPR101	HP:0011760	Pituitary growth hormone cell adenoma
83550	GPR101	HP:0003416	Spinal canal stenosis
83550	GPR101	HP:0010535	Sleep apnea
83550	GPR101	HP:0003401	Paresthesia
83550	GPR101	HP:0003593	Infantile onset
83550	GPR101	HP:0002230	Generalized hirsutism
83550	GPR101	HP:0100786	Hypersomnia
83550	GPR101	HP:0008388	Abnormal toenail morphology
83550	GPR101	HP:0001061	Acne
83550	GPR101	HP:0002315	Headache
83550	GPR101	HP:0100607	Dysmenorrhea
83550	GPR101	HP:0001072	Thickened skin
83550	GPR101	HP:0000687	Widely spaced teeth
83550	GPR101	HP:0000664	Synophrys
83550	GPR101	HP:0005616	Accelerated skeletal maturation
83550	GPR101	HP:0000802	Impotence
83550	GPR101	HP:0100021	Cerebral palsy
83550	GPR101	HP:0000739	Anxiety
83550	GPR101	HP:0000716	Depression
83550	GPR101	HP:0011463	Childhood onset
83550	GPR101	HP:0000870	Increased circulating prolactin concentration
83550	GPR101	HP:0000830	Anterior hypopituitarism
83550	GPR101	HP:0000845	Elevated circulating growth hormone concentration
83550	GPR101	HP:0012802	Broad jaw
83550	GPR101	HP:0000819	Diabetes mellitus
83550	GPR101	HP:0000818	Abnormality of the endocrine system
83550	GPR101	HP:0000822	Hypertension
83550	GPR101	HP:0040075	Hypopituitarism
83550	GPR101	HP:0000975	Hyperhidrosis
83550	GPR101	HP:0000956	Acanthosis nigricans
83550	GPR101	HP:0000280	Coarse facial features
83550	GPR101	HP:0000293	Full cheeks
83550	GPR101	HP:0000276	Long face
83550	GPR101	HP:0002829	Arthralgia
83550	GPR101	HP:0002808	Kyphosis
83550	GPR101	HP:0001548	Overgrowth
83550	GPR101	HP:0002893	Pituitary adenoma
83550	GPR101	HP:0012378	Fatigue
83550	GPR101	HP:0012377	Hemianopia
83550	GPR101	HP:0001609	Hoarse voice
83550	GPR101	HP:0000337	Broad forehead
83550	GPR101	HP:0001653	Mitral regurgitation
83550	GPR101	HP:0001639	Hypertrophic cardiomyopathy
83550	GPR101	HP:0000303	Mandibular prognathia
83550	GPR101	HP:0000400	Macrotia
83550	GPR101	HP:0001714	Ventricular hypertrophy
83550	GPR101	HP:0001769	Broad foot
83550	GPR101	HP:0030269	Increased circulating insulin-like growth factor 1 concentration
83550	GPR101	HP:0030265	Wide penis
83550	GPR101	HP:0000445	Wide nose
83550	GPR101	HP:0006767	Pituitary prolactin cell adenoma
83550	GPR101	HP:0004099	Macrodactyly
83550	GPR101	HP:0001869	Deep plantar creases
83552	MFRP	HP:0000007	Autosomal recessive inheritance
83552	MFRP	HP:0012152	Foveoschisis
83552	MFRP	HP:0007663	Reduced visual acuity
83552	MFRP	HP:0008323	Abnormal light- and dark-adapted electroretinogram
83552	MFRP	HP:0008499	High hypermetropia
83552	MFRP	HP:0000613	Photophobia
83552	MFRP	HP:0000610	Abnormal choroid morphology
83552	MFRP	HP:0000662	Nyctalopia
83552	MFRP	HP:0011462	Young adult onset
83552	MFRP	HP:0011505	Cystoid macular edema
83552	MFRP	HP:0030823	Scleral thickening
83552	MFRP	HP:0007722	Retinal pigment epithelial atrophy
83552	MFRP	HP:0007703	Abnormality of retinal pigmentation
83552	MFRP	HP:0007737	Bone spicule pigmentation of the retina
83552	MFRP	HP:0000486	Strabismus
83552	MFRP	HP:0012426	Optic disc drusen
83552	MFRP	HP:0000518	Cataract
83552	MFRP	HP:0000501	Glaucoma
83552	MFRP	HP:0000568	Microphthalmia
83552	MFRP	HP:0000543	Optic disc pallor
83605	CCM2	HP:0033522	Cerebral cavernous malformation
83605	CCM2	HP:0001297	Stroke
83605	CCM2	HP:0001250	Seizure
83605	CCM2	HP:0002572	Episodic vomiting
83605	CCM2	HP:0002516	Increased intracranial pressure
83605	CCM2	HP:0001342	Cerebral hemorrhage
83605	CCM2	HP:0000006	Autosomal dominant inheritance
83605	CCM2	HP:0002650	Scoliosis
83605	CCM2	HP:0100543	Cognitive impairment
83605	CCM2	HP:0100561	Spinal cord lesion
83605	CCM2	HP:0001028	Hemangioma
83605	CCM2	HP:0001009	Telangiectasia
83605	CCM2	HP:0002315	Headache
83605	CCM2	HP:0012749	Focal T2 hypointense brainstem lesion
83605	CCM2	HP:0012748	Focal T2 hyperintense brainstem lesion
83605	CCM2	HP:0012721	Venous malformation
83605	CCM2	HP:0011513	Retinal cavernous angioma
83605	CCM2	HP:0002858	Meningioma
83605	CCM2	HP:0007872	Choroidal hemangioma
83605	CCM2	HP:0030430	Neuroma
83605	CCM2	HP:0011276	Vascular skin abnormality
83636	C19orf12	HP:0002460	Distal muscle weakness
83636	C19orf12	HP:0002454	Eye of the tiger anomaly of globus pallidus
83636	C19orf12	HP:0007325	Generalized dystonia
83636	C19orf12	HP:0007256	Abnormal pyramidal sign
83636	C19orf12	HP:0001272	Cerebellar atrophy
83636	C19orf12	HP:0001268	Mental deterioration
83636	C19orf12	HP:0001288	Gait disturbance
83636	C19orf12	HP:0001251	Ataxia
83636	C19orf12	HP:0001265	Hyporeflexia
83636	C19orf12	HP:0001260	Dysarthria
83636	C19orf12	HP:0001263	Global developmental delay
83636	C19orf12	HP:0001258	Spastic paraplegia
83636	C19orf12	HP:0001257	Spasticity
83636	C19orf12	HP:0002505	Loss of ambulation
83636	C19orf12	HP:0012048	Oromandibular dystonia
83636	C19orf12	HP:0001347	Hyperreflexia
83636	C19orf12	HP:0001332	Dystonia
83636	C19orf12	HP:0001324	Muscle weakness
83636	C19orf12	HP:0000007	Autosomal recessive inheritance
83636	C19orf12	HP:0001337	Tremor
83636	C19orf12	HP:0000006	Autosomal dominant inheritance
83636	C19orf12	HP:0001300	Parkinsonism
83636	C19orf12	HP:0002071	Abnormality of extrapyramidal motor function
83636	C19orf12	HP:0003487	Babinski sign
83636	C19orf12	HP:0002180	Neurodegeneration
83636	C19orf12	HP:0100710	Impulsivity
83636	C19orf12	HP:0007002	Motor axonal neuropathy
83636	C19orf12	HP:0002366	Abnormal lower motor neuron morphology
83636	C19orf12	HP:0003693	Distal amyotrophy
83636	C19orf12	HP:0003691	Scapular winging
83636	C19orf12	HP:0003676	Progressive
83636	C19orf12	HP:0003677	Slowly progressive
83636	C19orf12	HP:0009830	Peripheral neuropathy
83636	C19orf12	HP:0003621	Juvenile onset
83636	C19orf12	HP:0000648	Optic atrophy
83636	C19orf12	HP:0000750	Delayed speech and language development
83636	C19orf12	HP:0000716	Depression
83636	C19orf12	HP:0000712	Emotional lability
83636	C19orf12	HP:0000726	Dementia
83636	C19orf12	HP:0011463	Childhood onset
83636	C19orf12	HP:0011462	Young adult onset
83636	C19orf12	HP:0100315	Lewy bodies
83636	C19orf12	HP:0003236	Elevated circulating creatine kinase concentration
83636	C19orf12	HP:0006466	Ankle flexion contracture
83636	C19orf12	HP:0006380	Knee flexion contracture
83636	C19orf12	HP:0002936	Distal sensory impairment
83636	C19orf12	HP:0001761	Pes cavus
83636	C19orf12	HP:0000529	Progressive visual loss
83696	TRAPPC9	HP:0001182	Tapered finger
83696	TRAPPC9	HP:0009891	Underdeveloped supraorbital ridges
83696	TRAPPC9	HP:0010864	Intellectual disability, severe
83696	TRAPPC9	HP:0003763	Bruxism
83696	TRAPPC9	HP:0001250	Seizure
83696	TRAPPC9	HP:0001252	Hypotonia
83696	TRAPPC9	HP:0001249	Intellectual disability
83696	TRAPPC9	HP:0001263	Global developmental delay
83696	TRAPPC9	HP:0001238	Slender finger
83696	TRAPPC9	HP:0002500	Abnormal cerebral white matter morphology
83696	TRAPPC9	HP:0000007	Autosomal recessive inheritance
83696	TRAPPC9	HP:0001321	Cerebellar hypoplasia
83696	TRAPPC9	HP:0007642	Congenital stationary night blindness
83696	TRAPPC9	HP:0002714	Downturned corners of mouth
83696	TRAPPC9	HP:0002079	Hypoplasia of the corpus callosum
83696	TRAPPC9	HP:0002047	Malignant hyperthermia
83696	TRAPPC9	HP:0002123	Generalized myoclonic seizure
83696	TRAPPC9	HP:0002120	Cerebral cortical atrophy
83696	TRAPPC9	HP:0002265	Large fleshy ears
83696	TRAPPC9	HP:0003593	Infantile onset
83696	TRAPPC9	HP:0007068	Inferior cerebellar vermis hypoplasia
83696	TRAPPC9	HP:0007052	Multifocal cerebral white matter abnormalities
83696	TRAPPC9	HP:0004209	Clinodactyly of the 5th finger
83696	TRAPPC9	HP:0001956	Truncal obesity
83696	TRAPPC9	HP:0000601	Hypotelorism
83696	TRAPPC9	HP:0001999	Abnormal facial shape
83696	TRAPPC9	HP:0000664	Synophrys
83696	TRAPPC9	HP:0031936	Delayed ability to walk
83696	TRAPPC9	HP:0000752	Hyperactivity
83696	TRAPPC9	HP:0100023	Recurrent hand flapping
83696	TRAPPC9	HP:0000750	Delayed speech and language development
83696	TRAPPC9	HP:0000851	Congenital hypothyroidism
83696	TRAPPC9	HP:0040196	Mild microcephaly
83696	TRAPPC9	HP:0000286	Epicanthus
83696	TRAPPC9	HP:0000252	Microcephaly
83696	TRAPPC9	HP:0000248	Brachycephaly
83696	TRAPPC9	HP:0000219	Thin upper lip vermilion
83696	TRAPPC9	HP:0000204	Cleft upper lip
83696	TRAPPC9	HP:0001513	Obesity
83696	TRAPPC9	HP:0000377	Abnormal pinna morphology
83696	TRAPPC9	HP:0000341	Narrow forehead
83696	TRAPPC9	HP:0000319	Smooth philtrum
83696	TRAPPC9	HP:0000316	Hypertelorism
83696	TRAPPC9	HP:0000311	Round face
83696	TRAPPC9	HP:0000322	Short philtrum
83696	TRAPPC9	HP:0000470	Short neck
83696	TRAPPC9	HP:0012443	Abnormality of brain morphology
83696	TRAPPC9	HP:0000431	Wide nasal bridge
83696	TRAPPC9	HP:0005484	Secondary microcephaly
83696	TRAPPC9	HP:0011228	Horizontal eyebrow
83700	JAM3	HP:0001250	Seizure
83700	JAM3	HP:0001263	Global developmental delay
83700	JAM3	HP:0001257	Spasticity
83700	JAM3	HP:0003811	Neonatal death
83700	JAM3	HP:0000086	Ectopic kidney
83700	JAM3	HP:0001347	Hyperreflexia
83700	JAM3	HP:0000028	Cryptorchidism
83700	JAM3	HP:0000007	Autosomal recessive inheritance
83700	JAM3	HP:0001321	Cerebellar hypoplasia
83700	JAM3	HP:0002119	Ventriculomegaly
83700	JAM3	HP:0003577	Congenital onset
83700	JAM3	HP:0002240	Hepatomegaly
83700	JAM3	HP:0000800	Cystic renal dysplasia
83700	JAM3	HP:0001522	Death in infancy
83700	JAM3	HP:0001629	Ventricular septal defect
83700	JAM3	HP:0005484	Secondary microcephaly
83700	JAM3	HP:0000518	Cataract
83700	JAM3	HP:0000568	Microphthalmia
83700	JAM3	HP:0000543	Optic disc pallor
83706	FERMT3	HP:0100806	Sepsis
83706	FERMT3	HP:0000007	Autosomal recessive inheritance
83706	FERMT3	HP:0001482	Subcutaneous nodule
83706	FERMT3	HP:0001433	Hepatosplenomegaly
83706	FERMT3	HP:0002733	Abnormal lymph node morphology
83706	FERMT3	HP:0002718	Recurrent bacterial infections
83706	FERMT3	HP:0003593	Infantile onset
83706	FERMT3	HP:0002240	Hepatomegaly
83706	FERMT3	HP:0001978	Extramedullary hematopoiesis
83706	FERMT3	HP:0001974	Leukocytosis
83706	FERMT3	HP:0001903	Anemia
83706	FERMT3	HP:0000967	Petechiae
83706	FERMT3	HP:0001581	Recurrent skin infections
83706	FERMT3	HP:0011002	Osteopetrosis
83706	FERMT3	HP:0001744	Splenomegaly
83706	FERMT3	HP:0000421	Epistaxis
83706	FERMT3	HP:0001892	Abnormal bleeding
83706	FERMT3	HP:0001872	Abnormality of thrombocytes
83706	FERMT3	HP:0012531	Pain
83715	ESPN	HP:0008568	Vestibular areflexia
83715	ESPN	HP:0001251	Ataxia
83715	ESPN	HP:0001249	Intellectual disability
83715	ESPN	HP:0001263	Global developmental delay
83715	ESPN	HP:0007360	Aplasia/Hypoplasia of the cerebellum
83715	ESPN	HP:0000007	Autosomal recessive inheritance
83715	ESPN	HP:0012157	Subcortical cerebral atrophy
83715	ESPN	HP:0002120	Cerebral cortical atrophy
83715	ESPN	HP:0100753	Schizophrenia
83715	ESPN	HP:0008499	High hypermetropia
83715	ESPN	HP:0000682	Abnormal dental enamel morphology
83715	ESPN	HP:0000662	Nyctalopia
83715	ESPN	HP:0000738	Hallucinations
83715	ESPN	HP:0000739	Anxiety
83715	ESPN	HP:0000716	Depression
83715	ESPN	HP:0011510	Drusen
83715	ESPN	HP:0007730	Iris hypopigmentation
83715	ESPN	HP:0000399	Prelingual sensorineural hearing impairment
83715	ESPN	HP:0012377	Hemianopia
83715	ESPN	HP:0000375	Abnormal cochlea morphology
83715	ESPN	HP:0000407	Sensorineural hearing impairment
83715	ESPN	HP:0001712	Left ventricular hypertrophy
83715	ESPN	HP:0001751	Abnormal vestibular function
83715	ESPN	HP:0001756	Vestibular hypofunction
83715	ESPN	HP:0000518	Cataract
83715	ESPN	HP:0000512	Abnormal electroretinogram
83715	ESPN	HP:0000575	Scotoma
83715	ESPN	HP:0000572	Visual loss
83715	ESPN	HP:0000543	Optic disc pallor
83723	TLCD3B	HP:0025159	Hypoautofluorescent retinal lesion
83723	TLCD3B	HP:0000007	Autosomal recessive inheritance
83723	TLCD3B	HP:0007663	Reduced visual acuity
83723	TLCD3B	HP:0003621	Juvenile onset
83723	TLCD3B	HP:0000613	Photophobia
83723	TLCD3B	HP:0000662	Nyctalopia
83723	TLCD3B	HP:0030629	Perifoveal ring of hyperautofluorescence
83723	TLCD3B	HP:0030631	Hyperautofluorescent macular lesion
83723	TLCD3B	HP:0011462	Young adult onset
83723	TLCD3B	HP:0011504	Bull's eye maculopathy
83723	TLCD3B	HP:0030825	Absent foveal reflex
83723	TLCD3B	HP:0030844	Undetectable pattern electroretinogram
83723	TLCD3B	HP:0007722	Retinal pigment epithelial atrophy
83723	TLCD3B	HP:0007703	Abnormality of retinal pigmentation
83723	TLCD3B	HP:0007843	Attenuation of retinal blood vessels
83723	TLCD3B	HP:0000505	Visual impairment
83723	TLCD3B	HP:0000551	Color vision defect
83737	ITCH	HP:0001290	Generalized hypotonia
83737	ITCH	HP:0001270	Motor delay
83737	ITCH	HP:0001252	Hypotonia
83737	ITCH	HP:0001263	Global developmental delay
83737	ITCH	HP:0032342	Reduced forced expiratory volume in one second
83737	ITCH	HP:0025379	Anti-thyroid peroxidase antibody positivity
83737	ITCH	HP:0001394	Cirrhosis
83737	ITCH	HP:0001377	Limited elbow extension
83737	ITCH	HP:0025329	Anti-glutamic acid decarboxylase antibody positivity
83737	ITCH	HP:0008872	Feeding difficulties in infancy
83737	ITCH	HP:0000007	Autosomal recessive inheritance
83737	ITCH	HP:0031104	Insulin receptor antibody positivity
83737	ITCH	HP:0012115	Hepatitis
83737	ITCH	HP:0008947	Infantile muscular hypotonia
83737	ITCH	HP:0001433	Hepatosplenomegaly
83737	ITCH	HP:0001409	Portal hypertension
83737	ITCH	HP:0002750	Delayed skeletal maturation
83737	ITCH	HP:0002719	Recurrent infections
83737	ITCH	HP:0002720	Decreased circulating IgA level
83737	ITCH	HP:0002020	Gastroesophageal reflux
83737	ITCH	HP:0002028	Chronic diarrhea
83737	ITCH	HP:0002007	Frontal bossing
83737	ITCH	HP:0011800	Midface retrusion
83737	ITCH	HP:0003453	Antineutrophil antibody positivity
83737	ITCH	HP:0002242	Abnormal intestine morphology
83737	ITCH	HP:0002240	Hepatomegaly
83737	ITCH	HP:0002205	Recurrent respiratory infections
83737	ITCH	HP:0100651	Type I diabetes mellitus
83737	ITCH	HP:0100646	Thyroiditis
83737	ITCH	HP:0009765	Low hanging columella
83737	ITCH	HP:0001971	Hypersplenism
83737	ITCH	HP:0001904	Neutropenia in presence of anti-neutropil antibodies
83737	ITCH	HP:0001999	Abnormal facial shape
83737	ITCH	HP:0004322	Short stature
83737	ITCH	HP:0005659	Thoracic kyphoscoliosis
83737	ITCH	HP:0000767	Pectus excavatum
83737	ITCH	HP:0011471	Gastrostomy tube feeding in infancy
83737	ITCH	HP:0003100	Slender long bone
83737	ITCH	HP:0004482	Relative macrocephaly
83737	ITCH	HP:0000872	Hashimoto thyroiditis
83737	ITCH	HP:0000821	Hypothyroidism
83737	ITCH	HP:0004570	Increased vertebral height
83737	ITCH	HP:0003262	Smooth muscle antibody positivity
83737	ITCH	HP:0000954	Single transverse palmar crease
83737	ITCH	HP:0000268	Dolichocephaly
83737	ITCH	HP:0000269	Prominent occiput
83737	ITCH	HP:0030084	Clinodactyly
83737	ITCH	HP:0001531	Failure to thrive in infancy
83737	ITCH	HP:0012385	Camptodactyly
83737	ITCH	HP:0006554	Acute hepatic failure
83737	ITCH	HP:0006528	Chronic lung disease
83737	ITCH	HP:0002938	Lumbar hyperlordosis
83737	ITCH	HP:0000358	Posteriorly rotated ears
83737	ITCH	HP:0000369	Low-set ears
83737	ITCH	HP:0000368	Low-set, posteriorly rotated ears
83737	ITCH	HP:0000316	Hypertelorism
83737	ITCH	HP:0000331	Short chin
83737	ITCH	HP:0030151	Cholangitis
83737	ITCH	HP:0000322	Short philtrum
83737	ITCH	HP:0002960	Autoimmunity
83737	ITCH	HP:0000453	Choanal atresia
83737	ITCH	HP:0000444	Convex nasal ridge
83737	ITCH	HP:0001744	Splenomegaly
83737	ITCH	HP:0000520	Proptosis
83737	ITCH	HP:0001822	Hallux valgus
83737	ITCH	HP:0000508	Ptosis
83737	ITCH	HP:0001876	Pancytopenia
83854	ANGPTL6	HP:0001123	Visual field defect
83854	ANGPTL6	HP:0001269	Hemiparesis
83854	ANGPTL6	HP:0001250	Seizure
83854	ANGPTL6	HP:0002647	Aortic dissection
83854	ANGPTL6	HP:0002616	Aortic root aneurysm
83854	ANGPTL6	HP:0002621	Atherosclerosis
83854	ANGPTL6	HP:0002138	Subarachnoid hemorrhage
83854	ANGPTL6	HP:0002170	Intracranial hemorrhage
83854	ANGPTL6	HP:0007029	Cerebral berry aneurysm
83854	ANGPTL6	HP:0002363	Abnormal brainstem morphology
83854	ANGPTL6	HP:0002326	Transient ischemic attack
83854	ANGPTL6	HP:0000822	Hypertension
83854	ANGPTL6	HP:0040197	Encephalomalacia
83854	ANGPTL6	HP:0012246	Oculomotor nerve palsy
83854	ANGPTL6	HP:0012518	Abnormal circle of Willis morphology
83861	RSPH3	HP:0025177	Peribronchovascular interstitial thickening
83861	RSPH3	HP:0002566	Intestinal malrotation
83861	RSPH3	HP:0001217	Clubbing
83861	RSPH3	HP:0000007	Autosomal recessive inheritance
83861	RSPH3	HP:0002643	Neonatal respiratory distress
83861	RSPH3	HP:0000119	Abnormality of the genitourinary system
83861	RSPH3	HP:0032543	Lithoptysis
83861	RSPH3	HP:0031245	Productive cough
83861	RSPH3	HP:0002011	Morphological central nervous system abnormality
83861	RSPH3	HP:0100582	Nasal polyposis
83861	RSPH3	HP:0002119	Ventriculomegaly
83861	RSPH3	HP:0002110	Bronchiectasis
83861	RSPH3	HP:0008222	Female infertility
83861	RSPH3	HP:0003577	Congenital onset
83861	RSPH3	HP:0002257	Chronic rhinitis
83861	RSPH3	HP:0002205	Recurrent respiratory infections
83861	RSPH3	HP:0100750	Atelectasis
83861	RSPH3	HP:0032016	Abnormal sputum
83861	RSPH3	HP:0011947	Respiratory tract infection
83861	RSPH3	HP:0010772	Anomalous pulmonary venous return
83861	RSPH3	HP:0030680	Abnormality of cardiovascular system morphology
83861	RSPH3	HP:0000750	Delayed speech and language development
83861	RSPH3	HP:0000789	Infertility
83861	RSPH3	HP:0000924	Abnormality of the skeletal system
83861	RSPH3	HP:0011539	Atrial situs ambiguous
83861	RSPH3	HP:0011535	Abnormal atrial arrangement
83861	RSPH3	HP:0030828	Wheezing
83861	RSPH3	HP:0003251	Male infertility
83861	RSPH3	HP:0011617	Pulmonary situs ambiguus
83861	RSPH3	HP:0033036	Decreased nasal nitric oxide
83861	RSPH3	HP:0025576	Abnormal inferior vena cava morphology
83861	RSPH3	HP:0012265	Ciliary dyskinesia
83861	RSPH3	HP:0012267	Absent respiratory ciliary axoneme radial spokes
83861	RSPH3	HP:0012263	Immotile cilia
83861	RSPH3	HP:0000238	Hydrocephalus
83861	RSPH3	HP:0012206	Abnormal sperm motility
83861	RSPH3	HP:0002878	Respiratory failure
83861	RSPH3	HP:0006510	Chronic pulmonary obstruction
83861	RSPH3	HP:0000389	Chronic otitis media
83861	RSPH3	HP:0006536	Airway obstruction
83861	RSPH3	HP:0001696	Situs inversus totalis
83861	RSPH3	HP:0000365	Hearing impairment
83861	RSPH3	HP:0001669	Transposition of the great arteries
83861	RSPH3	HP:0031456	Ectopic pregnancy
83861	RSPH3	HP:0001627	Abnormal heart morphology
83861	RSPH3	HP:0005301	Persistent left superior vena cava
83861	RSPH3	HP:0000403	Recurrent otitis media
83861	RSPH3	HP:0000405	Conductive hearing impairment
83861	RSPH3	HP:0001719	Double outlet right ventricle
83861	RSPH3	HP:0011109	Chronic sinusitis
83861	RSPH3	HP:0001746	Asplenia
83861	RSPH3	HP:0001748	Polysplenia
83861	RSPH3	HP:0001742	Nasal congestion
83861	RSPH3	HP:0005425	Recurrent sinopulmonary infections
83861	RSPH3	HP:0011274	Recurrent mycobacterial infections
83861	RSPH3	HP:0000510	Rod-cone dystrophy
83872	HMCN1	HP:0000006	Autosomal dominant inheritance
83872	HMCN1	HP:0003584	Late onset
83872	HMCN1	HP:0000608	Macular degeneration
83872	HMCN1	HP:0030499	Macular drusen
83872	HMCN1	HP:0012643	Foveal hypopigmentation
83872	HMCN1	HP:0011506	Choroidal neovascularization
83872	HMCN1	HP:0025574	Macular hemorrhage
83872	HMCN1	HP:0031609	Geographic atrophy
83872	HMCN1	HP:0000529	Progressive visual loss
83879	CDCA7	HP:0001249	Intellectual disability
83879	CDCA7	HP:0001263	Global developmental delay
83879	CDCA7	HP:0000047	Hypospadias
83879	CDCA7	HP:0000028	Cryptorchidism
83879	CDCA7	HP:0000007	Autosomal recessive inheritance
83879	CDCA7	HP:0001334	Communicating hydrocephalus
83879	CDCA7	HP:0000158	Macroglossia
83879	CDCA7	HP:0002719	Recurrent infections
83879	CDCA7	HP:0002721	Immunodeficiency
83879	CDCA7	HP:0002024	Malabsorption
83879	CDCA7	HP:0010442	Polydactyly
83879	CDCA7	HP:0003577	Congenital onset
83879	CDCA7	HP:0002205	Recurrent respiratory infections
83879	CDCA7	HP:0010808	Protruding tongue
83879	CDCA7	HP:0001903	Anemia
83879	CDCA7	HP:0004322	Short stature
83879	CDCA7	HP:0004313	Decreased circulating antibody level
83879	CDCA7	HP:0004432	Agammaglobulinemia
83879	CDCA7	HP:0003196	Short nose
83879	CDCA7	HP:0003175	Hypoplastic ischia
83879	CDCA7	HP:0003220	Abnormality of chromosome stability
83879	CDCA7	HP:0000286	Epicanthus
83879	CDCA7	HP:0000256	Macrocephaly
83879	CDCA7	HP:0000252	Microcephaly
83879	CDCA7	HP:0001537	Umbilical hernia
83879	CDCA7	HP:0002846	Abnormal B cell morphology
83879	CDCA7	HP:0001511	Intrauterine growth retardation
83879	CDCA7	HP:0012368	Flat face
83879	CDCA7	HP:0000369	Low-set ears
83879	CDCA7	HP:0000347	Micrognathia
83879	CDCA7	HP:0000316	Hypertelorism
83879	CDCA7	HP:0005374	Cellular immunodeficiency
83879	CDCA7	HP:0000405	Conductive hearing impairment
83879	CDCA7	HP:0005280	Depressed nasal bridge
83879	CDCA7	HP:0000486	Strabismus
83879	CDCA7	HP:0001888	Lymphopenia
83879	CDCA7	HP:0001874	Abnormality of neutrophils
83893	SPATA16	HP:0000007	Autosomal recessive inheritance
83893	SPATA16	HP:0031136	Decreased acrosin in sperm head
83893	SPATA16	HP:0003251	Male infertility
83893	SPATA16	HP:0012205	Globozoospermia
83894	TTC29	HP:0000007	Autosomal recessive inheritance
83894	TTC29	HP:0032558	Absent sperm flagella
83894	TTC29	HP:0032559	Short sperm flagella
83894	TTC29	HP:0032560	Coiled sperm flagella
83894	TTC29	HP:0032561	Microcephalic sperm head
83894	TTC29	HP:0032562	Tapered sperm head
83894	TTC29	HP:0003251	Male infertility
83894	TTC29	HP:0012207	Reduced sperm motility
83932	SPRTN	HP:0000007	Autosomal recessive inheritance
83932	SPRTN	HP:0000135	Hypogonadism
83932	SPRTN	HP:0001402	Hepatocellular carcinoma
83932	SPRTN	HP:0002750	Delayed skeletal maturation
83932	SPRTN	HP:0002007	Frontal bossing
83932	SPRTN	HP:0002216	Premature graying of hair
83932	SPRTN	HP:0200021	Down-sloping shoulders
83932	SPRTN	HP:0004325	Decreased body weight
83932	SPRTN	HP:0004322	Short stature
83932	SPRTN	HP:0005659	Thoracic kyphoscoliosis
83932	SPRTN	HP:0000767	Pectus excavatum
83932	SPRTN	HP:0009125	Lipodystrophy
83932	SPRTN	HP:0003202	Skeletal muscle atrophy
83932	SPRTN	HP:0000954	Single transverse palmar crease
83932	SPRTN	HP:0000939	Osteoporosis
83932	SPRTN	HP:0008070	Sparse hair
83932	SPRTN	HP:0007787	Posterior subcapsular cataract
83932	SPRTN	HP:0030084	Clinodactyly
83932	SPRTN	HP:0000347	Micrognathia
83932	SPRTN	HP:0002987	Elbow flexion contracture
83932	SPRTN	HP:0000325	Triangular face
83932	SPRTN	HP:0001763	Pes planus
83932	SPRTN	HP:0000414	Bulbous nose
83932	SPRTN	HP:0000426	Prominent nasal bridge
83932	SPRTN	HP:0000518	Cataract
83938	LRMDA	HP:0000007	Autosomal recessive inheritance
83938	LRMDA	HP:0007663	Reduced visual acuity
83938	LRMDA	HP:0001022	Albinism
83938	LRMDA	HP:0008499	High hypermetropia
83938	LRMDA	HP:0000639	Nystagmus
83938	LRMDA	HP:0000613	Photophobia
83938	LRMDA	HP:0012805	Iris transillumination defect
83938	LRMDA	HP:0000577	Exotropia
83938	LRMDA	HP:0000565	Esotropia
83959	SLC4A11	HP:0001131	Corneal dystrophy
83959	SLC4A11	HP:0410280	Pediatric onset
83959	SLC4A11	HP:0012038	Corneal guttata
83959	SLC4A11	HP:0012040	Corneal stromal edema
83959	SLC4A11	HP:0000007	Autosomal recessive inheritance
83959	SLC4A11	HP:0000006	Autosomal dominant inheritance
83959	SLC4A11	HP:0007663	Reduced visual acuity
83959	SLC4A11	HP:0000639	Nystagmus
83959	SLC4A11	HP:0000622	Blurred vision
83959	SLC4A11	HP:0031792	Irregular astigmatism
83959	SLC4A11	HP:0000662	Nyctalopia
83959	SLC4A11	HP:0011488	Abnormal corneal endothelium morphology
83959	SLC4A11	HP:0011487	Increased corneal thickness
83959	SLC4A11	HP:0011491	Reduced number of corneal endothelial cells
83959	SLC4A11	HP:0011490	Abnormal Descemet membrane morphology
83959	SLC4A11	HP:0011462	Young adult onset
83959	SLC4A11	HP:0030857	Eye movement-induced pain
83959	SLC4A11	HP:0000969	Edema
83959	SLC4A11	HP:0007759	Opacification of the corneal stroma
83959	SLC4A11	HP:0007957	Corneal opacity
83959	SLC4A11	HP:0000407	Sensorineural hearing impairment
83959	SLC4A11	HP:0000505	Visual impairment
83959	SLC4A11	HP:0000572	Visual loss
83987	CCDC8	HP:0001374	Congenital hip dislocation
83987	CCDC8	HP:0001385	Hip dysplasia
83987	CCDC8	HP:0001382	Joint hypermobility
83987	CCDC8	HP:0000047	Hypospadias
83987	CCDC8	HP:0008839	Hypoplastic pelvis
83987	CCDC8	HP:0000007	Autosomal recessive inheritance
83987	CCDC8	HP:0002650	Scoliosis
83987	CCDC8	HP:0000144	Decreased fertility
83987	CCDC8	HP:0002750	Delayed skeletal maturation
83987	CCDC8	HP:0002007	Frontal bossing
83987	CCDC8	HP:0003307	Hyperlordosis
83987	CCDC8	HP:0011800	Midface retrusion
83987	CCDC8	HP:0003691	Scapular winging
83987	CCDC8	HP:0100659	Abnormal cerebral vascular morphology
83987	CCDC8	HP:0009811	Abnormality of the elbow
83987	CCDC8	HP:0100625	Enlarged thorax
83987	CCDC8	HP:0004209	Clinodactyly of the 5th finger
83987	CCDC8	HP:0000682	Abnormal dental enamel morphology
83987	CCDC8	HP:0000684	Delayed eruption of teeth
83987	CCDC8	HP:0004325	Decreased body weight
83987	CCDC8	HP:0004322	Short stature
83987	CCDC8	HP:0005692	Joint hyperflexibility
83987	CCDC8	HP:0003022	Hypoplasia of the ulna
83987	CCDC8	HP:0003100	Slender long bone
83987	CCDC8	HP:0003175	Hypoplastic ischia
83987	CCDC8	HP:0003173	Hypoplastic pubic bone
83987	CCDC8	HP:0000888	Horizontal ribs
83987	CCDC8	HP:0000883	Thin ribs
83987	CCDC8	HP:0004570	Increased vertebral height
83987	CCDC8	HP:0010306	Short thorax
83987	CCDC8	HP:0000944	Abnormal metaphysis morphology
83987	CCDC8	HP:0000268	Dolichocephaly
83987	CCDC8	HP:0002808	Kyphosis
83987	CCDC8	HP:0000252	Microcephaly
83987	CCDC8	HP:0000232	Everted lower lip vermilion
83987	CCDC8	HP:0001518	Small for gestational age
83987	CCDC8	HP:0001511	Intrauterine growth retardation
83987	CCDC8	HP:0001510	Growth delay
83987	CCDC8	HP:0000343	Long philtrum
83987	CCDC8	HP:0000337	Broad forehead
83987	CCDC8	HP:0002983	Micromelia
83987	CCDC8	HP:0000325	Triangular face
83987	CCDC8	HP:0000307	Pointed chin
83987	CCDC8	HP:0005274	Prominent nasal tip
83987	CCDC8	HP:0012471	Thick vermilion border
83987	CCDC8	HP:0000463	Anteverted nares
83987	CCDC8	HP:0000470	Short neck
83987	CCDC8	HP:0012428	Prominent calcaneus
83987	CCDC8	HP:0000414	Bulbous nose
83987	CCDC8	HP:0000411	Protruding ear
83987	CCDC8	HP:0001838	Rocker bottom foot
83987	CCDC8	HP:0000574	Thick eyebrow
83990	BRIP1	HP:0001172	Abnormal thumb morphology
83990	BRIP1	HP:0001199	Triphalangeal thumb
83990	BRIP1	HP:0008572	External ear malformation
83990	BRIP1	HP:0002414	Spina bifida
83990	BRIP1	HP:0001249	Intellectual disability
83990	BRIP1	HP:0001263	Global developmental delay
83990	BRIP1	HP:0002575	Tracheoesophageal fistula
83990	BRIP1	HP:0006101	Finger syndactyly
83990	BRIP1	HP:0007400	Irregular hyperpigmentation
83990	BRIP1	HP:0100867	Duodenal stenosis
83990	BRIP1	HP:0008678	Renal hypoplasia/aplasia
83990	BRIP1	HP:0000083	Renal insufficiency
83990	BRIP1	HP:0001392	Abnormality of the liver
83990	BRIP1	HP:0000079	Abnormality of the urinary system
83990	BRIP1	HP:0000072	Hydroureter
83990	BRIP1	HP:0012041	Decreased fertility in males
83990	BRIP1	HP:0000047	Hypospadias
83990	BRIP1	HP:0001347	Hyperreflexia
83990	BRIP1	HP:0000035	Abnormal testis morphology
83990	BRIP1	HP:0000028	Cryptorchidism
83990	BRIP1	HP:0000027	Azoospermia
83990	BRIP1	HP:0007565	Multiple cafe-au-lait spots
83990	BRIP1	HP:0008897	Postnatal growth retardation
83990	BRIP1	HP:0002664	Neoplasm
83990	BRIP1	HP:0000010	Recurrent urinary tract infections
83990	BRIP1	HP:0000007	Autosomal recessive inheritance
83990	BRIP1	HP:0000006	Autosomal dominant inheritance
83990	BRIP1	HP:0002650	Scoliosis
83990	BRIP1	HP:0000175	Cleft palate
83990	BRIP1	HP:0012125	Prostate cancer
83990	BRIP1	HP:0000135	Hypogonadism
83990	BRIP1	HP:0006265	Aplasia/Hypoplasia of fingers
83990	BRIP1	HP:0000130	Abnormality of the uterus
83990	BRIP1	HP:0001428	Somatic mutation
83990	BRIP1	HP:0002023	Anal atresia
83990	BRIP1	HP:0002007	Frontal bossing
83990	BRIP1	HP:0100542	Abnormal localization of kidney
83990	BRIP1	HP:0100587	Abnormal preputium morphology
83990	BRIP1	HP:0010469	Absent testis
83990	BRIP1	HP:0002119	Ventriculomegaly
83990	BRIP1	HP:0002245	Meckel diverticulum
83990	BRIP1	HP:0002251	Aganglionic megacolon
83990	BRIP1	HP:0100760	Clubbing of toes
83990	BRIP1	HP:0001053	Hypopigmented skin patches
83990	BRIP1	HP:0001000	Abnormality of skin pigmentation
83990	BRIP1	HP:0100615	Ovarian neoplasm
83990	BRIP1	HP:0009778	Short thumb
83990	BRIP1	HP:0005528	Bone marrow hypocellularity
83990	BRIP1	HP:0004209	Clinodactyly of the 5th finger
83990	BRIP1	HP:0005522	Pyridoxine-responsive sideroblastic anemia
83990	BRIP1	HP:0006824	Cranial nerve paralysis
83990	BRIP1	HP:0000639	Nystagmus
83990	BRIP1	HP:0001903	Anemia
83990	BRIP1	HP:0012639	Abnormal nervous system morphology
83990	BRIP1	HP:0004322	Short stature
83990	BRIP1	HP:0003002	Breast carcinoma
83990	BRIP1	HP:0003022	Hypoplasia of the ulna
83990	BRIP1	HP:0004349	Reduced bone mineral density
83990	BRIP1	HP:0012745	Short palpebral fissure
83990	BRIP1	HP:0100026	Arteriovenous malformation
83990	BRIP1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
83990	BRIP1	HP:0000813	Bicornuate uterus
83990	BRIP1	HP:0010293	Aplasia/Hypoplasia of the uvula
83990	BRIP1	HP:0040071	Abnormal morphology of ulna
83990	BRIP1	HP:0003220	Abnormality of chromosome stability
83990	BRIP1	HP:0003221	Chromosomal breakage induced by crosslinking agents
83990	BRIP1	HP:0008053	Aplasia/Hypoplasia of the iris
83990	BRIP1	HP:0000286	Epicanthus
83990	BRIP1	HP:0000268	Dolichocephaly
83990	BRIP1	HP:0002817	Abnormality of the upper limb
83990	BRIP1	HP:0002827	Hip dislocation
83990	BRIP1	HP:0002823	Abnormality of femur morphology
83990	BRIP1	HP:0000238	Hydrocephalus
83990	BRIP1	HP:0000252	Microcephaly
83990	BRIP1	HP:0012210	Abnormal renal morphology
83990	BRIP1	HP:0000218	High palate
83990	BRIP1	HP:0002894	Neoplasm of the pancreas
83990	BRIP1	HP:0001562	Oligohydramnios
83990	BRIP1	HP:0002861	Melanoma
83990	BRIP1	HP:0001537	Umbilical hernia
83990	BRIP1	HP:0002863	Myelodysplasia
83990	BRIP1	HP:0001511	Intrauterine growth retardation
83990	BRIP1	HP:0001510	Growth delay
83990	BRIP1	HP:0006501	Aplasia/Hypoplasia of the radius
83990	BRIP1	HP:0011027	Abnormal fallopian tube morphology
83990	BRIP1	HP:0007874	Almond-shaped palpebral fissure
83990	BRIP1	HP:0000365	Hearing impairment
83990	BRIP1	HP:0000364	Hearing abnormality
83990	BRIP1	HP:0001671	Abnormal cardiac septum morphology
83990	BRIP1	HP:0000340	Sloping forehead
83990	BRIP1	HP:0001679	Abnormal aortic morphology
83990	BRIP1	HP:0000347	Micrognathia
83990	BRIP1	HP:0000316	Hypertelorism
83990	BRIP1	HP:0001646	Abnormal aortic valve morphology
83990	BRIP1	HP:0001643	Patent ductus arteriosus
83990	BRIP1	HP:0000324	Facial asymmetry
83990	BRIP1	HP:0001639	Hypertrophic cardiomyopathy
83990	BRIP1	HP:0001636	Tetralogy of Fallot
83990	BRIP1	HP:0001631	Atrial septal defect
83990	BRIP1	HP:0005344	Abnormal carotid artery morphology
83990	BRIP1	HP:0000483	Astigmatism
83990	BRIP1	HP:0000486	Strabismus
83990	BRIP1	HP:0000478	Abnormality of the eye
83990	BRIP1	HP:0000492	Abnormal eyelid morphology
83990	BRIP1	HP:0001770	Toe syndactyly
83990	BRIP1	HP:0001763	Pes planus
83990	BRIP1	HP:0000453	Choanal atresia
83990	BRIP1	HP:0001760	Abnormal foot morphology
83990	BRIP1	HP:0030406	Primary peritoneal carcinoma
83990	BRIP1	HP:0000518	Cataract
83990	BRIP1	HP:0000520	Proptosis
83990	BRIP1	HP:0001824	Weight loss
83990	BRIP1	HP:0000508	Ptosis
83990	BRIP1	HP:0000505	Visual impairment
83990	BRIP1	HP:0000504	Abnormality of vision
83990	BRIP1	HP:0000582	Upslanted palpebral fissure
83990	BRIP1	HP:0000568	Microphthalmia
83990	BRIP1	HP:0001871	Abnormality of blood and blood-forming tissues
83990	BRIP1	HP:0001882	Leukopenia
83990	BRIP1	HP:0001873	Thrombocytopenia
83999	KREMEN1	HP:0000007	Autosomal recessive inheritance
83999	KREMEN1	HP:0002299	Brittle hair
83999	KREMEN1	HP:0000677	Oligodontia
83999	KREMEN1	HP:0000653	Sparse eyelashes
83999	KREMEN1	HP:0045074	Thin eyebrow
83999	KREMEN1	HP:0000968	Ectodermal dysplasia
83999	KREMEN1	HP:0000294	Low anterior hairline
83999	KREMEN1	HP:0000316	Hypertelorism
83999	KREMEN1	HP:0005280	Depressed nasal bridge
83999	KREMEN1	HP:0012471	Thick vermilion border
83999	KREMEN1	HP:0000494	Downslanted palpebral fissures
83999	KREMEN1	HP:0000431	Wide nasal bridge
84059	ADGRV1	HP:0010850	EEG with spike-wave complexes
84059	ADGRV1	HP:0001252	Hypotonia
84059	ADGRV1	HP:0001251	Ataxia
84059	ADGRV1	HP:0008770	Obsessive-compulsive trait
84059	ADGRV1	HP:0007360	Aplasia/Hypoplasia of the cerebellum
84059	ADGRV1	HP:0007359	Focal-onset seizure
84059	ADGRV1	HP:0002539	Cortical dysplasia
84059	ADGRV1	HP:0000007	Autosomal recessive inheritance
84059	ADGRV1	HP:0001337	Tremor
84059	ADGRV1	HP:0000006	Autosomal dominant inheritance
84059	ADGRV1	HP:0012157	Subcortical cerebral atrophy
84059	ADGRV1	HP:0004684	Talipes valgus
84059	ADGRV1	HP:0100543	Cognitive impairment
84059	ADGRV1	HP:0002069	Bilateral tonic-clonic seizure
84059	ADGRV1	HP:0002067	Bradykinesia
84059	ADGRV1	HP:0002123	Generalized myoclonic seizure
84059	ADGRV1	HP:0002120	Cerebral cortical atrophy
84059	ADGRV1	HP:0002121	Generalized non-motor (absence) seizure
84059	ADGRV1	HP:0002133	Status epilepticus
84059	ADGRV1	HP:0002197	Generalized-onset seizure
84059	ADGRV1	HP:0003593	Infantile onset
84059	ADGRV1	HP:0100753	Schizophrenia
84059	ADGRV1	HP:0007010	Poor fine motor coordination
84059	ADGRV1	HP:0007058	Generalized cerebral atrophy/hypoplasia
84059	ADGRV1	HP:0002384	Focal impaired awareness seizure
84059	ADGRV1	HP:0002376	Developmental regression
84059	ADGRV1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
84059	ADGRV1	HP:0008527	Congenital sensorineural hearing impairment
84059	ADGRV1	HP:0010819	Atonic seizure
84059	ADGRV1	HP:0010818	Generalized tonic seizure
84059	ADGRV1	HP:0100694	Tibial torsion
84059	ADGRV1	HP:0002311	Incoordination
84059	ADGRV1	HP:0000639	Nystagmus
84059	ADGRV1	HP:0000682	Abnormal dental enamel morphology
84059	ADGRV1	HP:0000691	Microdontia
84059	ADGRV1	HP:0000662	Nyctalopia
84059	ADGRV1	HP:0000670	Carious teeth
84059	ADGRV1	HP:0003066	Limited knee extension
84059	ADGRV1	HP:0000738	Hallucinations
84059	ADGRV1	HP:0000739	Anxiety
84059	ADGRV1	HP:0000716	Depression
84059	ADGRV1	HP:0000729	Autistic behavior
84059	ADGRV1	HP:0011463	Childhood onset
84059	ADGRV1	HP:0007730	Iris hypopigmentation
84059	ADGRV1	HP:0011073	Abnormality of dental color
84059	ADGRV1	HP:0012377	Hemianopia
84059	ADGRV1	HP:0000359	Abnormality of the inner ear
84059	ADGRV1	HP:0011151	Atypical absence status epilepticus
84059	ADGRV1	HP:0000407	Sensorineural hearing impairment
84059	ADGRV1	HP:0001763	Pes planus
84059	ADGRV1	HP:0000518	Cataract
84059	ADGRV1	HP:0000510	Rod-cone dystrophy
84059	ADGRV1	HP:0000512	Abnormal electroretinogram
84059	ADGRV1	HP:0000575	Scotoma
84059	ADGRV1	HP:0000572	Visual loss
84059	ADGRV1	HP:0000545	Myopia
84061	MAGT1	HP:0032247	Persistent CMV viremia
84061	MAGT1	HP:0032204	Chronic active Epstein-Barr virus infection
84061	MAGT1	HP:0032218	Decreased proportion of CD4-positive T cells
84061	MAGT1	HP:0001249	Intellectual disability
84061	MAGT1	HP:0001263	Global developmental delay
84061	MAGT1	HP:0002665	Lymphoma
84061	MAGT1	HP:0012191	B-cell lymphoma
84061	MAGT1	HP:0012189	Hodgkin lymphoma
84061	MAGT1	HP:0031268	Decreased CD69 upregulation upon TCR activation
84061	MAGT1	HP:0001419	X-linked recessive inheritance
84061	MAGT1	HP:0002716	Lymphadenopathy
84061	MAGT1	HP:0002721	Immunodeficiency
84061	MAGT1	HP:0002110	Bronchiectasis
84061	MAGT1	HP:0033222	Decreased CD4:CD8 ratio
84061	MAGT1	HP:0002240	Hepatomegaly
84061	MAGT1	HP:0002205	Recurrent respiratory infections
84061	MAGT1	HP:0100721	Mediastinal lymphadenopathy
84061	MAGT1	HP:0020072	Persistent EBV viremia
84061	MAGT1	HP:0032170	Severe varicella zoster infection
84061	MAGT1	HP:0003642	Type I transferrin isoform profile
84061	MAGT1	HP:0003621	Juvenile onset
84061	MAGT1	HP:0005523	Lymphoproliferative disorder
84061	MAGT1	HP:0001973	Autoimmune thrombocytopenia
84061	MAGT1	HP:0011462	Young adult onset
84061	MAGT1	HP:0004429	Recurrent viral infections
84061	MAGT1	HP:0002837	Recurrent bronchitis
84061	MAGT1	HP:0002848	Decreased specific anti-polysaccharide antibody level
84061	MAGT1	HP:0000403	Recurrent otitis media
84061	MAGT1	HP:0011108	Recurrent sinusitis
84061	MAGT1	HP:0001744	Splenomegaly
84061	MAGT1	HP:0005407	Decreased proportion of CD4-positive helper T cells
84061	MAGT1	HP:0005419	Decreased T cell activation
84062	DTNBP1	HP:0001107	Ocular albinism
84062	DTNBP1	HP:0000007	Autosomal recessive inheritance
84062	DTNBP1	HP:0007663	Reduced visual acuity
84062	DTNBP1	HP:0006298	Prolonged bleeding after dental extraction
84062	DTNBP1	HP:0000132	Menorrhagia
84062	DTNBP1	HP:0011891	Post-partum hemorrhage
84062	DTNBP1	HP:0003540	Impaired platelet aggregation
84062	DTNBP1	HP:0001022	Albinism
84062	DTNBP1	HP:0000639	Nystagmus
84062	DTNBP1	HP:0001934	Persistent bleeding after trauma
84062	DTNBP1	HP:0003010	Prolonged bleeding time
84062	DTNBP1	HP:0011463	Childhood onset
84062	DTNBP1	HP:0000978	Bruising susceptibility
84062	DTNBP1	HP:0000421	Epistaxis
84062	DTNBP1	HP:0000505	Visual impairment
84065	TMEM222	HP:0009879	Simplified gyral pattern
84065	TMEM222	HP:0001270	Motor delay
84065	TMEM222	HP:0001285	Spastic tetraparesis
84065	TMEM222	HP:0001250	Seizure
84065	TMEM222	HP:0001252	Hypotonia
84065	TMEM222	HP:0001263	Global developmental delay
84065	TMEM222	HP:0000007	Autosomal recessive inheritance
84065	TMEM222	HP:0001337	Tremor
84065	TMEM222	HP:0002136	Broad-based gait
84065	TMEM222	HP:0020045	Esodeviation
84065	TMEM222	HP:0000648	Optic atrophy
84065	TMEM222	HP:0031936	Delayed ability to walk
84065	TMEM222	HP:0000752	Hyperactivity
84065	TMEM222	HP:0000750	Delayed speech and language development
84065	TMEM222	HP:0000718	Aggressive behavior
84065	TMEM222	HP:0000729	Autistic behavior
84065	TMEM222	HP:0030891	Periventricular white matter hyperintensities
84065	TMEM222	HP:0000238	Hydrocephalus
84065	TMEM222	HP:0000252	Microcephaly
84065	TMEM222	HP:0002987	Elbow flexion contracture
84065	TMEM222	HP:0000486	Strabismus
84065	TMEM222	HP:0001792	Small nail
84068	SLC10A7	HP:0001263	Global developmental delay
84068	SLC10A7	HP:0100864	Short femoral neck
84068	SLC10A7	HP:0001382	Joint hypermobility
84068	SLC10A7	HP:0000023	Inguinal hernia
84068	SLC10A7	HP:0002673	Coxa valga
84068	SLC10A7	HP:0000007	Autosomal recessive inheritance
84068	SLC10A7	HP:0002650	Scoliosis
84068	SLC10A7	HP:0000175	Cleft palate
84068	SLC10A7	HP:0006297	Enamel hypoplasia
84068	SLC10A7	HP:0002751	Kyphoscoliosis
84068	SLC10A7	HP:0003307	Hyperlordosis
84068	SLC10A7	HP:0003301	Irregular vertebral endplates
84068	SLC10A7	HP:0003417	Coronal cleft vertebrae
84068	SLC10A7	HP:0003498	Disproportionate short stature
84068	SLC10A7	HP:0010585	Small epiphyses
84068	SLC10A7	HP:0004976	Knee dislocation
84068	SLC10A7	HP:0009804	Tooth agenesis
84068	SLC10A7	HP:0004233	Advanced ossification of carpal bones
84068	SLC10A7	HP:0001956	Truncal obesity
84068	SLC10A7	HP:0000670	Carious teeth
84068	SLC10A7	HP:0004322	Short stature
84068	SLC10A7	HP:0005616	Accelerated skeletal maturation
84068	SLC10A7	HP:0003071	Flattened epiphysis
84068	SLC10A7	HP:0003026	Short long bone
84068	SLC10A7	HP:0000705	Amelogenesis imperfecta
84068	SLC10A7	HP:0003273	Hip contracture
84068	SLC10A7	HP:0010306	Short thorax
84068	SLC10A7	HP:0000218	High palate
84068	SLC10A7	HP:0002857	Genu valgum
84068	SLC10A7	HP:0000201	Pierre-Robin sequence
84068	SLC10A7	HP:0001513	Obesity
84068	SLC10A7	HP:0005257	Thoracic hypoplasia
84068	SLC10A7	HP:0000365	Hearing impairment
84068	SLC10A7	HP:0000347	Micrognathia
84068	SLC10A7	HP:0000311	Round face
84068	SLC10A7	HP:0000308	Microretrognathia
84068	SLC10A7	HP:0000303	Mandibular prognathia
84068	SLC10A7	HP:0001763	Pes planus
84071	ARMC2	HP:0000007	Autosomal recessive inheritance
84071	ARMC2	HP:0032558	Absent sperm flagella
84071	ARMC2	HP:0032560	Coiled sperm flagella
84071	ARMC2	HP:0032562	Tapered sperm head
84071	ARMC2	HP:0000798	Oligospermia
84071	ARMC2	HP:0012865	Abnormal sperm head morphology
84071	ARMC2	HP:0003251	Male infertility
84071	ARMC2	HP:0012258	Abnormal axonemal organization of respiratory motile cilia
84071	ARMC2	HP:0012207	Reduced sperm motility
84074	QRICH2	HP:0033525	Absent sperm axoneme central pair complex
84074	QRICH2	HP:0000007	Autosomal recessive inheritance
84074	QRICH2	HP:0032558	Absent sperm flagella
84074	QRICH2	HP:0032559	Short sperm flagella
84074	QRICH2	HP:0032560	Coiled sperm flagella
84074	QRICH2	HP:0011462	Young adult onset
84074	QRICH2	HP:0003251	Male infertility
84081	NSRP1	HP:0020206	Simple ear
84081	NSRP1	HP:0009879	Simplified gyral pattern
84081	NSRP1	HP:0001250	Seizure
84081	NSRP1	HP:0001263	Global developmental delay
84081	NSRP1	HP:0001371	Flexion contracture
84081	NSRP1	HP:0001347	Hyperreflexia
84081	NSRP1	HP:0001344	Absent speech
84081	NSRP1	HP:0000007	Autosomal recessive inheritance
84081	NSRP1	HP:0001320	Cerebellar vermis hypoplasia
84081	NSRP1	HP:0008936	Axial hypotonia
84081	NSRP1	HP:0002015	Dysphagia
84081	NSRP1	HP:0003593	Infantile onset
84081	NSRP1	HP:0002365	Hypoplasia of the brainstem
84081	NSRP1	HP:0010804	Tented upper lip vermilion
84081	NSRP1	HP:0003623	Neonatal onset
84081	NSRP1	HP:0006989	Dysplastic corpus callosum
84081	NSRP1	HP:0100021	Cerebral palsy
84081	NSRP1	HP:0034353	Appendicular spasticity
84081	NSRP1	HP:0008070	Sparse hair
84081	NSRP1	HP:0000252	Microcephaly
84081	NSRP1	HP:0000218	High palate
84081	NSRP1	HP:0001508	Failure to thrive
84081	NSRP1	HP:0000358	Posteriorly rotated ears
84081	NSRP1	HP:0000369	Low-set ears
84081	NSRP1	HP:0000343	Long philtrum
84081	NSRP1	HP:0000348	High forehead
84081	NSRP1	HP:0000316	Hypertelorism
84081	NSRP1	HP:0000322	Short philtrum
84081	NSRP1	HP:0000303	Mandibular prognathia
84081	NSRP1	HP:0011182	Interictal epileptiform activity
84081	NSRP1	HP:0032988	Persistent head lag
84081	NSRP1	HP:0005280	Depressed nasal bridge
84081	NSRP1	HP:0000494	Downslanted palpebral fissures
84081	NSRP1	HP:0000463	Anteverted nares
84081	NSRP1	HP:0000411	Protruding ear
84081	NSRP1	HP:0005487	Prominent metopic ridge
84100	ARL6	HP:0001156	Brachydactyly
84100	ARL6	HP:0001162	Postaxial hand polydactyly
84100	ARL6	HP:0001159	Syndactyly
84100	ARL6	HP:0001133	Constriction of peripheral visual field
84100	ARL6	HP:0001251	Ataxia
84100	ARL6	HP:0001249	Intellectual disability
84100	ARL6	HP:0001263	Global developmental delay
84100	ARL6	HP:0006101	Finger syndactyly
84100	ARL6	HP:0008734	Decreased testicular size
84100	ARL6	HP:0008736	Hypoplasia of penis
84100	ARL6	HP:0008724	Hypoplasia of the ovary
84100	ARL6	HP:0000089	Renal hypoplasia
84100	ARL6	HP:0001395	Hepatic fibrosis
84100	ARL6	HP:0000077	Abnormality of the kidney
84100	ARL6	HP:0000054	Micropenis
84100	ARL6	HP:0001347	Hyperreflexia
84100	ARL6	HP:0000035	Abnormal testis morphology
84100	ARL6	HP:0000028	Cryptorchidism
84100	ARL6	HP:0001328	Specific learning disability
84100	ARL6	HP:0000007	Autosomal recessive inheritance
84100	ARL6	HP:0000003	Multicystic kidney dysplasia
84100	ARL6	HP:0000006	Autosomal dominant inheritance
84100	ARL6	HP:0000135	Hypogonadism
84100	ARL6	HP:0000137	Abnormality of the ovary
84100	ARL6	HP:0000148	Vaginal atresia
84100	ARL6	HP:0007675	Progressive night blindness
84100	ARL6	HP:0007663	Reduced visual acuity
84100	ARL6	HP:0002705	High, narrow palate
84100	ARL6	HP:0000100	Nephrotic syndrome
84100	ARL6	HP:0001419	X-linked recessive inheritance
84100	ARL6	HP:0005978	Type II diabetes mellitus
84100	ARL6	HP:0002099	Asthma
84100	ARL6	HP:0009466	Radial deviation of finger
84100	ARL6	HP:0002141	Gait imbalance
84100	ARL6	HP:0002167	Abnormality of speech or vocalization
84100	ARL6	HP:0003577	Congenital onset
84100	ARL6	HP:0002251	Aganglionic megacolon
84100	ARL6	HP:0002230	Generalized hirsutism
84100	ARL6	HP:0002370	Poor coordination
84100	ARL6	HP:0001007	Hirsutism
84100	ARL6	HP:0009806	Nephrogenic diabetes insipidus
84100	ARL6	HP:0001080	Biliary tract abnormality
84100	ARL6	HP:0010747	Medial flaring of the eyebrow
84100	ARL6	HP:0000639	Nystagmus
84100	ARL6	HP:0000648	Optic atrophy
84100	ARL6	HP:0000618	Blindness
84100	ARL6	HP:0000613	Photophobia
84100	ARL6	HP:0001956	Truncal obesity
84100	ARL6	HP:0000602	Ophthalmoplegia
84100	ARL6	HP:0000678	Dental crowding
84100	ARL6	HP:0000662	Nyctalopia
84100	ARL6	HP:0000668	Hypodontia
84100	ARL6	HP:0004322	Short stature
84100	ARL6	HP:0030631	Hyperautofluorescent macular lesion
84100	ARL6	HP:0012743	Abdominal obesity
84100	ARL6	HP:0000750	Delayed speech and language development
84100	ARL6	HP:0000855	Insulin resistance
84100	ARL6	HP:0000842	Hyperinsulinemia
84100	ARL6	HP:0000819	Diabetes mellitus
84100	ARL6	HP:0000822	Hypertension
84100	ARL6	HP:0003241	External genital hypoplasia
84100	ARL6	HP:0003202	Skeletal muscle atrophy
84100	ARL6	HP:0100259	Postaxial polydactyly
84100	ARL6	HP:0000987	Atypical scarring of skin
84100	ARL6	HP:0008046	Abnormal retinal vascular morphology
84100	ARL6	HP:0007703	Abnormality of retinal pigmentation
84100	ARL6	HP:0000256	Macrocephaly
84100	ARL6	HP:0007737	Bone spicule pigmentation of the retina
84100	ARL6	HP:0000218	High palate
84100	ARL6	HP:0001513	Obesity
84100	ARL6	HP:0007843	Attenuation of retinal blood vessels
84100	ARL6	HP:0012393	Allergy
84100	ARL6	HP:0005180	Tricuspid regurgitation
84100	ARL6	HP:0000365	Hearing impairment
84100	ARL6	HP:0000368	Low-set, posteriorly rotated ears
84100	ARL6	HP:0031605	Abnormality of fundus pigmentation
84100	ARL6	HP:0007994	Peripheral visual field loss
84100	ARL6	HP:0000407	Sensorineural hearing impairment
84100	ARL6	HP:0000405	Conductive hearing impairment
84100	ARL6	HP:0001712	Left ventricular hypertrophy
84100	ARL6	HP:0000483	Astigmatism
84100	ARL6	HP:0000486	Strabismus
84100	ARL6	HP:0000494	Downslanted palpebral fissures
84100	ARL6	HP:0000463	Anteverted nares
84100	ARL6	HP:0000470	Short neck
84100	ARL6	HP:0001773	Short foot
84100	ARL6	HP:0001769	Broad foot
84100	ARL6	HP:0000431	Wide nasal bridge
84100	ARL6	HP:0000426	Prominent nasal bridge
84100	ARL6	HP:0000518	Cataract
84100	ARL6	HP:0000510	Rod-cone dystrophy
84100	ARL6	HP:0000512	Abnormal electroretinogram
84100	ARL6	HP:0001829	Foot polydactyly
84100	ARL6	HP:0000505	Visual impairment
84100	ARL6	HP:0001830	Postaxial foot polydactyly
84100	ARL6	HP:0000501	Glaucoma
84100	ARL6	HP:0000580	Pigmentary retinopathy
84100	ARL6	HP:0000563	Keratoconus
84100	ARL6	HP:0000556	Retinal dystrophy
84100	ARL6	HP:0000546	Retinal degeneration
84100	ARL6	HP:0000545	Myopia
84126	ATRIP	HP:0001249	Intellectual disability
84126	ATRIP	HP:0001385	Hip dysplasia
84126	ATRIP	HP:0001363	Craniosynostosis
84126	ATRIP	HP:0007495	Prematurely aged appearance
84126	ATRIP	HP:0002650	Scoliosis
84126	ATRIP	HP:0002750	Delayed skeletal maturation
84126	ATRIP	HP:0100543	Cognitive impairment
84126	ATRIP	HP:0010579	Cone-shaped epiphysis
84126	ATRIP	HP:0002209	Sparse scalp hair
84126	ATRIP	HP:0009804	Tooth agenesis
84126	ATRIP	HP:0004209	Clinodactyly of the 5th finger
84126	ATRIP	HP:0000682	Abnormal dental enamel morphology
84126	ATRIP	HP:0011342	Mild global developmental delay
84126	ATRIP	HP:0004322	Short stature
84126	ATRIP	HP:0004326	Cachexia
84126	ATRIP	HP:0005692	Joint hyperflexibility
84126	ATRIP	HP:0000275	Narrow face
84126	ATRIP	HP:0000252	Microcephaly
84126	ATRIP	HP:0001511	Intrauterine growth retardation
84126	ATRIP	HP:0000387	Absent earlobe
84126	ATRIP	HP:0000363	Abnormal earlobe morphology
84126	ATRIP	HP:0000347	Micrognathia
84126	ATRIP	HP:0000494	Downslanted palpebral fissures
84126	ATRIP	HP:0000444	Convex nasal ridge
84126	ATRIP	HP:0001852	Sandal gap
84126	ATRIP	HP:0000501	Glaucoma
84131	CEP78	HP:0001105	Retinal atrophy
84131	CEP78	HP:0001251	Ataxia
84131	CEP78	HP:0012047	Hemeralopia
84131	CEP78	HP:0000007	Autosomal recessive inheritance
84131	CEP78	HP:0007641	Dyschromatopsia
84131	CEP78	HP:0100753	Schizophrenia
84131	CEP78	HP:0008499	High hypermetropia
84131	CEP78	HP:0000639	Nystagmus
84131	CEP78	HP:0000613	Photophobia
84131	CEP78	HP:0000608	Macular degeneration
84131	CEP78	HP:0000662	Nyctalopia
84131	CEP78	HP:0000738	Hallucinations
84131	CEP78	HP:0000739	Anxiety
84131	CEP78	HP:0000716	Depression
84131	CEP78	HP:0011463	Childhood onset
84131	CEP78	HP:0011462	Young adult onset
84131	CEP78	HP:0007730	Iris hypopigmentation
84131	CEP78	HP:0012377	Hemianopia
84131	CEP78	HP:0000375	Abnormal cochlea morphology
84131	CEP78	HP:0000407	Sensorineural hearing impairment
84131	CEP78	HP:0000483	Astigmatism
84131	CEP78	HP:0001756	Vestibular hypofunction
84131	CEP78	HP:0000518	Cataract
84131	CEP78	HP:0000512	Abnormal electroretinogram
84131	CEP78	HP:0000505	Visual impairment
84131	CEP78	HP:0000575	Scotoma
84131	CEP78	HP:0000572	Visual loss
84133	ZNRF3	HP:0025134	Increased serum estradiol
84133	ZNRF3	HP:0025269	Panic attack
84133	ZNRF3	HP:0000080	Abnormality of reproductive system physiology
84133	ZNRF3	HP:0025380	Increased circulating androstenedione concentration
84133	ZNRF3	HP:0012030	Increased urinary cortisol level
84133	ZNRF3	HP:0001324	Muscle weakness
84133	ZNRF3	HP:0025436	Elevated serum 11-deoxycortisol
84133	ZNRF3	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration
84133	ZNRF3	HP:0002027	Abdominal pain
84133	ZNRF3	HP:0011748	Adrenocorticotropic hormone deficiency
84133	ZNRF3	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
84133	ZNRF3	HP:0001065	Striae distensae
84133	ZNRF3	HP:0001962	Palpitations
84133	ZNRF3	HP:0001939	Abnormality of metabolism/homeostasis
84133	ZNRF3	HP:0004324	Increased body weight
84133	ZNRF3	HP:0000737	Irritability
84133	ZNRF3	HP:0000739	Anxiety
84133	ZNRF3	HP:0003110	Abnormality of urine homeostasis
84133	ZNRF3	HP:0003118	Increased circulating cortisol level
84133	ZNRF3	HP:0000859	Hyperaldosteronism
84133	ZNRF3	HP:0000819	Diabetes mellitus
84133	ZNRF3	HP:0000822	Hypertension
84133	ZNRF3	HP:0000998	Hypertrichosis
84133	ZNRF3	HP:0000975	Hyperhidrosis
84133	ZNRF3	HP:0030078	Lung adenocarcinoma
84133	ZNRF3	HP:0002900	Hypokalemia
84133	ZNRF3	HP:0006744	Adrenocortical carcinoma
84133	ZNRF3	HP:0001824	Weight loss
84133	ZNRF3	HP:0030348	Increased circulating androgen concentration
84138	SLC7A6OS	HP:0001268	Mental deterioration
84138	SLC7A6OS	HP:0001251	Ataxia
84138	SLC7A6OS	HP:0001260	Dysarthria
84138	SLC7A6OS	HP:0000007	Autosomal recessive inheritance
84138	SLC7A6OS	HP:0001336	Myoclonus
84138	SLC7A6OS	HP:0001310	Dysmetria
84138	SLC7A6OS	HP:0002069	Bilateral tonic-clonic seizure
84138	SLC7A6OS	HP:0007018	Attention deficit hyperactivity disorder
84138	SLC7A6OS	HP:0002355	Difficulty walking
84138	SLC7A6OS	HP:0003621	Juvenile onset
84138	SLC7A6OS	HP:0000739	Anxiety
84138	SLC7A6OS	HP:0000716	Depression
84138	SLC7A6OS	HP:0011462	Young adult onset
84140	FAM161A	HP:0001133	Constriction of peripheral visual field
84140	FAM161A	HP:0001249	Intellectual disability
84140	FAM161A	HP:0008736	Hypoplasia of penis
84140	FAM161A	HP:0001347	Hyperreflexia
84140	FAM161A	HP:0000035	Abnormal testis morphology
84140	FAM161A	HP:0000007	Autosomal recessive inheritance
84140	FAM161A	HP:0000135	Hypogonadism
84140	FAM161A	HP:0007675	Progressive night blindness
84140	FAM161A	HP:0005978	Type II diabetes mellitus
84140	FAM161A	HP:0000639	Nystagmus
84140	FAM161A	HP:0000648	Optic atrophy
84140	FAM161A	HP:0000618	Blindness
84140	FAM161A	HP:0000613	Photophobia
84140	FAM161A	HP:0000602	Ophthalmoplegia
84140	FAM161A	HP:0000662	Nyctalopia
84140	FAM161A	HP:0000842	Hyperinsulinemia
84140	FAM161A	HP:0000987	Atypical scarring of skin
84140	FAM161A	HP:0008046	Abnormal retinal vascular morphology
84140	FAM161A	HP:0007703	Abnormality of retinal pigmentation
84140	FAM161A	HP:0007737	Bone spicule pigmentation of the retina
84140	FAM161A	HP:0001513	Obesity
84140	FAM161A	HP:0000407	Sensorineural hearing impairment
84140	FAM161A	HP:0000405	Conductive hearing impairment
84140	FAM161A	HP:0000463	Anteverted nares
84140	FAM161A	HP:0000431	Wide nasal bridge
84140	FAM161A	HP:0000518	Cataract
84140	FAM161A	HP:0000510	Rod-cone dystrophy
84140	FAM161A	HP:0000512	Abnormal electroretinogram
84140	FAM161A	HP:0000505	Visual impairment
84140	FAM161A	HP:0000501	Glaucoma
84140	FAM161A	HP:0000563	Keratoconus
84140	FAM161A	HP:0000543	Optic disc pallor
84146	ZNF644	HP:0000006	Autosomal dominant inheritance
84146	ZNF644	HP:0011463	Childhood onset
84146	ZNF644	HP:0011003	High myopia
84148	KAT8	HP:0010862	Delayed fine motor development
84148	KAT8	HP:0001250	Seizure
84148	KAT8	HP:0001263	Global developmental delay
84148	KAT8	HP:0008872	Feeding difficulties in infancy
84148	KAT8	HP:0000006	Autosomal dominant inheritance
84148	KAT8	HP:0002714	Downturned corners of mouth
84148	KAT8	HP:0002079	Hypoplasia of the corpus callosum
84148	KAT8	HP:0002119	Ventriculomegaly
84148	KAT8	HP:0002194	Delayed gross motor development
84148	KAT8	HP:0007018	Attention deficit hyperactivity disorder
84148	KAT8	HP:0007165	Periventricular heterotopia
84148	KAT8	HP:0004209	Clinodactyly of the 5th finger
84148	KAT8	HP:0000601	Hypotelorism
84148	KAT8	HP:0000750	Delayed speech and language development
84148	KAT8	HP:0000729	Autistic behavior
84148	KAT8	HP:0000286	Epicanthus
84148	KAT8	HP:0000369	Low-set ears
84148	KAT8	HP:0001643	Patent ductus arteriosus
84148	KAT8	HP:0001629	Ventricular septal defect
84148	KAT8	HP:0001631	Atrial septal defect
84148	KAT8	HP:0005280	Depressed nasal bridge
84148	KAT8	HP:0012471	Thick vermilion border
84148	KAT8	HP:0000426	Prominent nasal bridge
84148	KAT8	HP:0001845	Overlapping toe
84148	KAT8	HP:0000506	Telecanthus
84148	KAT8	HP:0000582	Upslanted palpebral fissure
84148	KAT8	HP:0000565	Esotropia
84148	KAT8	HP:0000540	Hypermetropia
84153	RNASEH2C	HP:0007256	Abnormal pyramidal sign
84153	RNASEH2C	HP:0002415	Leukodystrophy
84153	RNASEH2C	HP:0001298	Encephalopathy
84153	RNASEH2C	HP:0001290	Generalized hypotonia
84153	RNASEH2C	HP:0001276	Hypertonia
84153	RNASEH2C	HP:0001250	Seizure
84153	RNASEH2C	HP:0001252	Hypotonia
84153	RNASEH2C	HP:0001263	Global developmental delay
84153	RNASEH2C	HP:0001257	Spasticity
84153	RNASEH2C	HP:0002514	Cerebral calcification
84153	RNASEH2C	HP:0002510	Spastic tetraplegia
84153	RNASEH2C	HP:0002500	Abnormal cerebral white matter morphology
84153	RNASEH2C	HP:0003819	Death in childhood
84153	RNASEH2C	HP:0001369	Arthritis
84153	RNASEH2C	HP:0000054	Micropenis
84153	RNASEH2C	HP:0001347	Hyperreflexia
84153	RNASEH2C	HP:0001357	Plagiocephaly
84153	RNASEH2C	HP:0001332	Dystonia
84153	RNASEH2C	HP:0000007	Autosomal recessive inheritance
84153	RNASEH2C	HP:0001337	Tremor
84153	RNASEH2C	HP:0002650	Scoliosis
84153	RNASEH2C	HP:0008936	Axial hypotonia
84153	RNASEH2C	HP:0001433	Hepatosplenomegaly
84153	RNASEH2C	HP:0002079	Hypoplasia of the corpus callosum
84153	RNASEH2C	HP:0002071	Abnormality of extrapyramidal motor function
84153	RNASEH2C	HP:0100578	Lipoatrophy
84153	RNASEH2C	HP:0002139	Arrhinencephaly
84153	RNASEH2C	HP:0002119	Ventriculomegaly
84153	RNASEH2C	HP:0002132	Porencephalic cyst
84153	RNASEH2C	HP:0002187	Intellectual disability, profound
84153	RNASEH2C	HP:0011834	Moyamoya phenomenon
84153	RNASEH2C	HP:0003552	Muscle stiffness
84153	RNASEH2C	HP:0200149	CSF lymphocytic pleiocytosis
84153	RNASEH2C	HP:0009709	Increased CSF interferon alpha
84153	RNASEH2C	HP:0009710	Chilblains
84153	RNASEH2C	HP:0009704	Chronic CSF lymphocytosis
84153	RNASEH2C	HP:0004809	Neonatal alloimmune thrombocytopenia
84153	RNASEH2C	HP:0007076	Extrapyramidal muscular rigidity
84153	RNASEH2C	HP:0007052	Multifocal cerebral white matter abnormalities
84153	RNASEH2C	HP:0001063	Acrocyanosis
84153	RNASEH2C	HP:0002376	Developmental regression
84153	RNASEH2C	HP:0002371	Loss of speech
84153	RNASEH2C	HP:0003676	Progressive
84153	RNASEH2C	HP:0002355	Difficulty walking
84153	RNASEH2C	HP:0002315	Headache
84153	RNASEH2C	HP:0002313	Spastic paraparesis
84153	RNASEH2C	HP:0100614	Myositis
84153	RNASEH2C	HP:0001087	Developmental glaucoma
84153	RNASEH2C	HP:0007108	Demyelinating peripheral neuropathy
84153	RNASEH2C	HP:0004963	Calcification of the aorta
84153	RNASEH2C	HP:0004942	Aortic aneurysm
84153	RNASEH2C	HP:0005550	Chronic lymphatic leukemia
84153	RNASEH2C	HP:0000639	Nystagmus
84153	RNASEH2C	HP:0001955	Unexplained fevers
84153	RNASEH2C	HP:0000625	Eyelid coloboma
84153	RNASEH2C	HP:0011344	Severe global developmental delay
84153	RNASEH2C	HP:0004322	Short stature
84153	RNASEH2C	HP:0004374	Hemiplegia/hemiparesis
84153	RNASEH2C	HP:0000737	Irritability
84153	RNASEH2C	HP:0000819	Diabetes mellitus
84153	RNASEH2C	HP:0000821	Hypothyroidism
84153	RNASEH2C	HP:0030880	Raynaud phenomenon
84153	RNASEH2C	HP:0000958	Dry skin
84153	RNASEH2C	HP:0000965	Cutis marmorata
84153	RNASEH2C	HP:0040140	Degeneration of the striatum
84153	RNASEH2C	HP:0002828	Multiple joint contractures
84153	RNASEH2C	HP:0000253	Progressive microcephaly
84153	RNASEH2C	HP:0000252	Microcephaly
84153	RNASEH2C	HP:0030038	Enchondroma
84153	RNASEH2C	HP:0006579	Prolonged neonatal jaundice
84153	RNASEH2C	HP:0001609	Hoarse voice
84153	RNASEH2C	HP:0002910	Elevated hepatic transaminase
84153	RNASEH2C	HP:0000369	Low-set ears
84153	RNASEH2C	HP:0002960	Autoimmunity
84153	RNASEH2C	HP:0001640	Cardiomegaly
84153	RNASEH2C	HP:0001639	Hypertrophic cardiomyopathy
84153	RNASEH2C	HP:0012490	Panniculitis
84153	RNASEH2C	HP:0000496	Abnormality of eye movement
84153	RNASEH2C	HP:0012448	Delayed myelination
84153	RNASEH2C	HP:0012444	Brain atrophy
84153	RNASEH2C	HP:0000444	Convex nasal ridge
84153	RNASEH2C	HP:0000508	Ptosis
84153	RNASEH2C	HP:0000501	Glaucoma
84153	RNASEH2C	HP:0030356	Increased circulating interferon-gamma concentration
84153	RNASEH2C	HP:0001873	Thrombocytopenia
84162	BLTP1	HP:0001188	Hand clenching
84162	BLTP1	HP:0001181	Adducted thumb
84162	BLTP1	HP:0001290	Generalized hypotonia
84162	BLTP1	HP:0001250	Seizure
84162	BLTP1	HP:0001249	Intellectual disability
84162	BLTP1	HP:0001263	Global developmental delay
84162	BLTP1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
84162	BLTP1	HP:0000046	Small scrotum
84162	BLTP1	HP:0000054	Micropenis
84162	BLTP1	HP:0001357	Plagiocephaly
84162	BLTP1	HP:0001344	Absent speech
84162	BLTP1	HP:0001339	Lissencephaly
84162	BLTP1	HP:0000007	Autosomal recessive inheritance
84162	BLTP1	HP:0001305	Dandy-Walker malformation
84162	BLTP1	HP:0001321	Cerebellar hypoplasia
84162	BLTP1	HP:0002119	Ventriculomegaly
84162	BLTP1	HP:0010557	Overlapping fingers
84162	BLTP1	HP:0003577	Congenital onset
84162	BLTP1	HP:0002202	Pleural effusion
84162	BLTP1	HP:0002282	Gray matter heterotopia
84162	BLTP1	HP:0007033	Cerebellar dysplasia
84162	BLTP1	HP:0002365	Hypoplasia of the brainstem
84162	BLTP1	HP:0000601	Hypotelorism
84162	BLTP1	HP:0000657	Oculomotor apraxia
84162	BLTP1	HP:0012725	Cutaneous syndactyly
84162	BLTP1	HP:0012793	Kinked brainstem
84162	BLTP1	HP:0003196	Short nose
84162	BLTP1	HP:0000969	Edema
84162	BLTP1	HP:0000256	Macrocephaly
84162	BLTP1	HP:0030084	Clinodactyly
84162	BLTP1	HP:0002804	Arthrogryposis multiplex congenita
84162	BLTP1	HP:0000238	Hydrocephalus
84162	BLTP1	HP:0000218	High palate
84162	BLTP1	HP:0012385	Camptodactyly
84162	BLTP1	HP:0000358	Posteriorly rotated ears
84162	BLTP1	HP:0001698	Pericardial effusion
84162	BLTP1	HP:0000369	Low-set ears
84162	BLTP1	HP:0000347	Micrognathia
84162	BLTP1	HP:0000316	Hypertelorism
84162	BLTP1	HP:0005280	Depressed nasal bridge
84162	BLTP1	HP:0000486	Strabismus
84162	BLTP1	HP:0000476	Cystic hygroma
84162	BLTP1	HP:0000496	Abnormality of eye movement
84162	BLTP1	HP:0000463	Anteverted nares
84162	BLTP1	HP:0000465	Webbed neck
84162	BLTP1	HP:0001760	Abnormal foot morphology
84162	BLTP1	HP:0001762	Talipes equinovarus
84162	BLTP1	HP:0000518	Cataract
84162	BLTP1	HP:0001845	Overlapping toe
84162	BLTP1	HP:0000582	Upslanted palpebral fissure
84162	BLTP1	HP:0000540	Hypermetropia
84163	GTF2IRD2	HP:0001181	Adducted thumb
84163	GTF2IRD2	HP:0001136	Retinal arteriolar tortuosity
84163	GTF2IRD2	HP:0010880	Increased nuchal translucency
84163	GTF2IRD2	HP:0001297	Stroke
84163	GTF2IRD2	HP:0100817	Renovascular hypertension
84163	GTF2IRD2	HP:0001288	Gait disturbance
84163	GTF2IRD2	HP:0001252	Hypotonia
84163	GTF2IRD2	HP:0001251	Ataxia
84163	GTF2IRD2	HP:0001249	Intellectual disability
84163	GTF2IRD2	HP:0001260	Dysarthria
84163	GTF2IRD2	HP:0001257	Spasticity
84163	GTF2IRD2	HP:0001231	Abnormal fingernail morphology
84163	GTF2IRD2	HP:0002575	Tracheoesophageal fistula
84163	GTF2IRD2	HP:0008736	Hypoplasia of penis
84163	GTF2IRD2	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
84163	GTF2IRD2	HP:0008661	Urethral stenosis
84163	GTF2IRD2	HP:0000089	Renal hypoplasia
84163	GTF2IRD2	HP:0000083	Renal insufficiency
84163	GTF2IRD2	HP:0000093	Proteinuria
84163	GTF2IRD2	HP:0000076	Vesicoureteral reflux
84163	GTF2IRD2	HP:0000075	Renal duplication
84163	GTF2IRD2	HP:0000044	Hypogonadotropic hypogonadism
84163	GTF2IRD2	HP:0001388	Joint laxity
84163	GTF2IRD2	HP:0001387	Joint stiffness
84163	GTF2IRD2	HP:0000023	Inguinal hernia
84163	GTF2IRD2	HP:0000015	Bladder diverticulum
84163	GTF2IRD2	HP:0000014	Abnormality of the bladder
84163	GTF2IRD2	HP:0001347	Hyperreflexia
84163	GTF2IRD2	HP:0001361	Nystagmus-induced head nodding
84163	GTF2IRD2	HP:0000025	Functional abnormality of male internal genitalia
84163	GTF2IRD2	HP:0000028	Cryptorchidism
84163	GTF2IRD2	HP:0007495	Prematurely aged appearance
84163	GTF2IRD2	HP:0007477	Abnormal dermatoglyphics
84163	GTF2IRD2	HP:0000010	Recurrent urinary tract infections
84163	GTF2IRD2	HP:0001337	Tremor
84163	GTF2IRD2	HP:0001310	Dysmetria
84163	GTF2IRD2	HP:0002637	Cerebral ischemia
84163	GTF2IRD2	HP:0002650	Scoliosis
84163	GTF2IRD2	HP:0002644	Abnormal pelvic girdle bone morphology
84163	GTF2IRD2	HP:0002623	Overriding aorta
84163	GTF2IRD2	HP:0000179	Thick lower lip vermilion
84163	GTF2IRD2	HP:0000158	Macroglossia
84163	GTF2IRD2	HP:0000154	Wide mouth
84163	GTF2IRD2	HP:0000147	Polycystic ovaries
84163	GTF2IRD2	HP:0000121	Nephrocalcinosis
84163	GTF2IRD2	HP:0000125	Pelvic kidney
84163	GTF2IRD2	HP:0002750	Delayed skeletal maturation
84163	GTF2IRD2	HP:0002024	Malabsorption
84163	GTF2IRD2	HP:0002020	Gastroesophageal reflux
84163	GTF2IRD2	HP:0002019	Constipation
84163	GTF2IRD2	HP:0002017	Nausea and vomiting
84163	GTF2IRD2	HP:0002035	Rectal prolapse
84163	GTF2IRD2	HP:0002027	Abdominal pain
84163	GTF2IRD2	HP:0003312	Abnormal form of the vertebral bodies
84163	GTF2IRD2	HP:0003307	Hyperlordosis
84163	GTF2IRD2	HP:0005978	Type II diabetes mellitus
84163	GTF2IRD2	HP:0100539	Periorbital edema
84163	GTF2IRD2	HP:0100545	Arterial stenosis
84163	GTF2IRD2	HP:0002071	Abnormality of extrapyramidal motor function
84163	GTF2IRD2	HP:0002141	Gait imbalance
84163	GTF2IRD2	HP:0002150	Hypercalciuria
84163	GTF2IRD2	HP:0002120	Cerebral cortical atrophy
84163	GTF2IRD2	HP:0003422	Vertebral segmentation defect
84163	GTF2IRD2	HP:0002183	Phonophobia
84163	GTF2IRD2	HP:0002167	Abnormality of speech or vocalization
84163	GTF2IRD2	HP:0010526	Dysgraphia
84163	GTF2IRD2	HP:0002253	Colonic diverticula
84163	GTF2IRD2	HP:0002205	Recurrent respiratory infections
84163	GTF2IRD2	HP:0100785	Insomnia
84163	GTF2IRD2	HP:0010662	Abnormality of the diencephalon
84163	GTF2IRD2	HP:0010669	Hypoplasia of the zygomatic bone
84163	GTF2IRD2	HP:0007018	Attention deficit hyperactivity disorder
84163	GTF2IRD2	HP:0001052	Nevus flammeus
84163	GTF2IRD2	HP:0002376	Developmental regression
84163	GTF2IRD2	HP:0200021	Down-sloping shoulders
84163	GTF2IRD2	HP:0100659	Abnormal cerebral vascular morphology
84163	GTF2IRD2	HP:0010807	Open bite
84163	GTF2IRD2	HP:0100613	Death in early adulthood
84163	GTF2IRD2	HP:0001081	Cholelithiasis
84163	GTF2IRD2	HP:0008499	High hypermetropia
84163	GTF2IRD2	HP:0010780	Hyperacusis
84163	GTF2IRD2	HP:0002308	Chiari malformation
84163	GTF2IRD2	HP:0004969	Peripheral pulmonary artery stenosis
84163	GTF2IRD2	HP:0004209	Clinodactyly of the 5th finger
84163	GTF2IRD2	HP:0004295	Abnormal gastric mucosa morphology
84163	GTF2IRD2	HP:0005562	Multiple renal cysts
84163	GTF2IRD2	HP:0001969	Abnormal tubulointerstitial morphology
84163	GTF2IRD2	HP:0000635	Blue irides
84163	GTF2IRD2	HP:0000632	Lacrimation abnormality
84163	GTF2IRD2	HP:0000627	Posterior embryotoxon
84163	GTF2IRD2	HP:0000682	Abnormal dental enamel morphology
84163	GTF2IRD2	HP:0000691	Microdontia
84163	GTF2IRD2	HP:0000689	Dental malocclusion
84163	GTF2IRD2	HP:0000670	Carious teeth
84163	GTF2IRD2	HP:0012639	Abnormal nervous system morphology
84163	GTF2IRD2	HP:0000668	Hypodontia
84163	GTF2IRD2	HP:0004322	Short stature
84163	GTF2IRD2	HP:0004306	Abnormal endocardium morphology
84163	GTF2IRD2	HP:0004305	Involuntary movements
84163	GTF2IRD2	HP:0003072	Hypercalcemia
84163	GTF2IRD2	HP:0004381	Supravalvular aortic stenosis
84163	GTF2IRD2	HP:0004398	Peptic ulcer
84163	GTF2IRD2	HP:0005692	Joint hyperflexibility
84163	GTF2IRD2	HP:0003028	Abnormality of the ankle
84163	GTF2IRD2	HP:0100025	Overfriendliness
84163	GTF2IRD2	HP:0000767	Pectus excavatum
84163	GTF2IRD2	HP:0000739	Anxiety
84163	GTF2IRD2	HP:0000716	Depression
84163	GTF2IRD2	HP:0000717	Autism
84163	GTF2IRD2	HP:0000722	Compulsive behaviors
84163	GTF2IRD2	HP:0000787	Nephrolithiasis
84163	GTF2IRD2	HP:0003119	Abnormal circulating lipid concentration
84163	GTF2IRD2	HP:0004428	Elfin facies
84163	GTF2IRD2	HP:0003198	Myopathy
84163	GTF2IRD2	HP:0003196	Short nose
84163	GTF2IRD2	HP:0000826	Precocious puberty
84163	GTF2IRD2	HP:0000822	Hypertension
84163	GTF2IRD2	HP:0000821	Hypothyroidism
84163	GTF2IRD2	HP:0003236	Elevated circulating creatine kinase concentration
84163	GTF2IRD2	HP:0003298	Spina bifida occulta
84163	GTF2IRD2	HP:0000960	Sacral dimple
84163	GTF2IRD2	HP:0000939	Osteoporosis
84163	GTF2IRD2	HP:0000938	Osteopenia
84163	GTF2IRD2	HP:0100240	Synostosis of joints
84163	GTF2IRD2	HP:0008053	Aplasia/Hypoplasia of the iris
84163	GTF2IRD2	HP:0007720	Flat cornea
84163	GTF2IRD2	HP:0000286	Epicanthus
84163	GTF2IRD2	HP:0000280	Coarse facial features
84163	GTF2IRD2	HP:0000275	Narrow face
84163	GTF2IRD2	HP:0005113	Aortic arch aneurysm
84163	GTF2IRD2	HP:0002829	Arthralgia
84163	GTF2IRD2	HP:0002808	Kyphosis
84163	GTF2IRD2	HP:0000252	Microcephaly
84163	GTF2IRD2	HP:0001582	Redundant skin
84163	GTF2IRD2	HP:0000212	Gingival overgrowth
84163	GTF2IRD2	HP:0000232	Everted lower lip vermilion
84163	GTF2IRD2	HP:0001531	Failure to thrive in infancy
84163	GTF2IRD2	HP:0002857	Genu valgum
84163	GTF2IRD2	HP:0001537	Umbilical hernia
84163	GTF2IRD2	HP:0001513	Obesity
84163	GTF2IRD2	HP:0000389	Chronic otitis media
84163	GTF2IRD2	HP:0001609	Hoarse voice
84163	GTF2IRD2	HP:0001608	Abnormality of the voice
84163	GTF2IRD2	HP:0001618	Dysphonia
84163	GTF2IRD2	HP:0006482	Abnormality of dental morphology
84163	GTF2IRD2	HP:0000368	Low-set, posteriorly rotated ears
84163	GTF2IRD2	HP:0001671	Abnormal cardiac septum morphology
84163	GTF2IRD2	HP:0000343	Long philtrum
84163	GTF2IRD2	HP:0011001	Increased bone mineral density
84163	GTF2IRD2	HP:0000337	Broad forehead
84163	GTF2IRD2	HP:0002999	Patellar dislocation
84163	GTF2IRD2	HP:0000348	High forehead
84163	GTF2IRD2	HP:0000347	Micrognathia
84163	GTF2IRD2	HP:0001647	Bicuspid aortic valve
84163	GTF2IRD2	HP:0001643	Patent ductus arteriosus
84163	GTF2IRD2	HP:0001642	Pulmonic stenosis
84163	GTF2IRD2	HP:0001645	Sudden cardiac death
84163	GTF2IRD2	HP:0002974	Radioulnar synostosis
84163	GTF2IRD2	HP:0001658	Myocardial infarction
84163	GTF2IRD2	HP:0001653	Mitral regurgitation
84163	GTF2IRD2	HP:0001629	Ventricular septal defect
84163	GTF2IRD2	HP:0001626	Abnormality of the cardiovascular system
84163	GTF2IRD2	HP:0001640	Cardiomegaly
84163	GTF2IRD2	HP:0001639	Hypertrophic cardiomyopathy
84163	GTF2IRD2	HP:0001636	Tetralogy of Fallot
84163	GTF2IRD2	HP:0001635	Congestive heart failure
84163	GTF2IRD2	HP:0000307	Pointed chin
84163	GTF2IRD2	HP:0001631	Atrial septal defect
84163	GTF2IRD2	HP:0001634	Mitral valve prolapse
84163	GTF2IRD2	HP:0007957	Corneal opacity
84163	GTF2IRD2	HP:0005344	Abnormal carotid artery morphology
84163	GTF2IRD2	HP:0000407	Sensorineural hearing impairment
84163	GTF2IRD2	HP:0000400	Macrotia
84163	GTF2IRD2	HP:0000486	Strabismus
84163	GTF2IRD2	HP:0000485	Megalocornea
84163	GTF2IRD2	HP:0000464	Abnormality of the neck
84163	GTF2IRD2	HP:0012433	Abnormal social behavior
84163	GTF2IRD2	HP:0001763	Pes planus
84163	GTF2IRD2	HP:0000411	Protruding ear
84163	GTF2IRD2	HP:0000431	Wide nasal bridge
84163	GTF2IRD2	HP:0000518	Cataract
84163	GTF2IRD2	HP:0001822	Hallux valgus
84163	GTF2IRD2	HP:0000505	Visual impairment
84163	GTF2IRD2	HP:0000501	Glaucoma
84163	GTF2IRD2	HP:0001800	Hypoplastic toenails
84163	GTF2IRD2	HP:0000581	Blepharophimosis
84163	GTF2IRD2	HP:0000545	Myopia
84168	ANTXR1	HP:0001136	Retinal arteriolar tortuosity
84168	ANTXR1	HP:0009928	Thick nasal alae
84168	ANTXR1	HP:0009891	Underdeveloped supraorbital ridges
84168	ANTXR1	HP:0001270	Motor delay
84168	ANTXR1	HP:0001250	Seizure
84168	ANTXR1	HP:0001249	Intellectual disability
84168	ANTXR1	HP:0002557	Hypoplastic nipples
84168	ANTXR1	HP:0002516	Increased intracranial pressure
84168	ANTXR1	HP:0001382	Joint hypermobility
84168	ANTXR1	HP:0001357	Plagiocephaly
84168	ANTXR1	HP:0007495	Prematurely aged appearance
84168	ANTXR1	HP:0000007	Autosomal recessive inheritance
84168	ANTXR1	HP:0000006	Autosomal dominant inheritance
84168	ANTXR1	HP:0002650	Scoliosis
84168	ANTXR1	HP:0002644	Abnormal pelvic girdle bone morphology
84168	ANTXR1	HP:0002621	Atherosclerosis
84168	ANTXR1	HP:0000179	Thick lower lip vermilion
84168	ANTXR1	HP:0000174	Abnormal palate morphology
84168	ANTXR1	HP:0001476	Delayed closure of the anterior fontanelle
84168	ANTXR1	HP:0000141	Amenorrhea
84168	ANTXR1	HP:0000135	Hypogonadism
84168	ANTXR1	HP:0002705	High, narrow palate
84168	ANTXR1	HP:0002750	Delayed skeletal maturation
84168	ANTXR1	HP:0002007	Frontal bossing
84168	ANTXR1	HP:0003312	Abnormal form of the vertebral bodies
84168	ANTXR1	HP:0011800	Midface retrusion
84168	ANTXR1	HP:0100540	Palpebral edema
84168	ANTXR1	HP:0002119	Ventriculomegaly
84168	ANTXR1	HP:0010609	Skin tags
84168	ANTXR1	HP:0002164	Nail dysplasia
84168	ANTXR1	HP:0003593	Infantile onset
84168	ANTXR1	HP:0002240	Hepatomegaly
84168	ANTXR1	HP:0002234	Early balding
84168	ANTXR1	HP:0010628	Facial palsy
84168	ANTXR1	HP:0001053	Hypopigmented skin patches
84168	ANTXR1	HP:0001028	Hemangioma
84168	ANTXR1	HP:0001043	Prominent scalp veins
84168	ANTXR1	HP:0002353	EEG abnormality
84168	ANTXR1	HP:0100659	Abnormal cerebral vascular morphology
84168	ANTXR1	HP:0100607	Dysmenorrhea
84168	ANTXR1	HP:0200040	Epidermoid cyst
84168	ANTXR1	HP:0005576	Tubulointerstitial fibrosis
84168	ANTXR1	HP:0000639	Nystagmus
84168	ANTXR1	HP:0000648	Optic atrophy
84168	ANTXR1	HP:0000613	Photophobia
84168	ANTXR1	HP:0000684	Delayed eruption of teeth
84168	ANTXR1	HP:0000653	Sparse eyelashes
84168	ANTXR1	HP:0004322	Short stature
84168	ANTXR1	HP:0004331	Decreased skull ossification
84168	ANTXR1	HP:0005692	Joint hyperflexibility
84168	ANTXR1	HP:0000765	Abnormal thorax morphology
84168	ANTXR1	HP:0000706	Eruption failure
84168	ANTXR1	HP:0000798	Oligospermia
84168	ANTXR1	HP:0000787	Nephrolithiasis
84168	ANTXR1	HP:0003196	Short nose
84168	ANTXR1	HP:0003187	Breast hypoplasia
84168	ANTXR1	HP:0000889	Abnormal clavicle morphology
84168	ANTXR1	HP:0045075	Sparse eyebrow
84168	ANTXR1	HP:0000974	Hyperextensible skin
84168	ANTXR1	HP:0000944	Abnormal metaphysis morphology
84168	ANTXR1	HP:0008070	Sparse hair
84168	ANTXR1	HP:0000286	Epicanthus
84168	ANTXR1	HP:0001596	Alopecia
84168	ANTXR1	HP:0001591	Bell-shaped thorax
84168	ANTXR1	HP:0000260	Wide anterior fontanel
84168	ANTXR1	HP:0000270	Delayed cranial suture closure
84168	ANTXR1	HP:0001582	Redundant skin
84168	ANTXR1	HP:0000232	Everted lower lip vermilion
84168	ANTXR1	HP:0001555	Asymmetry of the thorax
84168	ANTXR1	HP:0001537	Umbilical hernia
84168	ANTXR1	HP:0001510	Growth delay
84168	ANTXR1	HP:0000365	Hearing impairment
84168	ANTXR1	HP:0000369	Low-set ears
84168	ANTXR1	HP:0000343	Long philtrum
84168	ANTXR1	HP:0000337	Broad forehead
84168	ANTXR1	HP:0000348	High forehead
84168	ANTXR1	HP:0000347	Micrognathia
84168	ANTXR1	HP:0000316	Hypertelorism
84168	ANTXR1	HP:0000303	Mandibular prognathia
84168	ANTXR1	HP:0005306	Capillary hemangioma
84168	ANTXR1	HP:0005280	Depressed nasal bridge
84168	ANTXR1	HP:0000486	Strabismus
84168	ANTXR1	HP:0000485	Megalocornea
84168	ANTXR1	HP:0000463	Anteverted nares
84168	ANTXR1	HP:0000453	Choanal atresia
84168	ANTXR1	HP:0000411	Protruding ear
84168	ANTXR1	HP:0000505	Visual impairment
84168	ANTXR1	HP:0000501	Glaucoma
84168	ANTXR1	HP:0000594	Shallow anterior chamber
84168	ANTXR1	HP:0000563	Keratoconus
84168	ANTXR1	HP:0000565	Esotropia
84168	ANTXR1	HP:0000545	Myopia
84172	POLR1B	HP:0008551	Microtia
84172	POLR1B	HP:0001249	Intellectual disability
84172	POLR1B	HP:0001263	Global developmental delay
84172	POLR1B	HP:0002575	Tracheoesophageal fistula
84172	POLR1B	HP:0008736	Hypoplasia of penis
84172	POLR1B	HP:0000046	Small scrotum
84172	POLR1B	HP:0000028	Cryptorchidism
84172	POLR1B	HP:0008872	Feeding difficulties in infancy
84172	POLR1B	HP:0000006	Autosomal dominant inheritance
84172	POLR1B	HP:0002652	Skeletal dysplasia
84172	POLR1B	HP:0000164	Abnormality of the dentition
84172	POLR1B	HP:0000160	Narrow mouth
84172	POLR1B	HP:0000162	Glossoptosis
84172	POLR1B	HP:0000175	Cleft palate
84172	POLR1B	HP:0000143	Rectovaginal fistula
84172	POLR1B	HP:0000154	Wide mouth
84172	POLR1B	HP:0005990	Thyroid hypoplasia
84172	POLR1B	HP:0002007	Frontal bossing
84172	POLR1B	HP:0002006	Facial cleft
84172	POLR1B	HP:0011800	Midface retrusion
84172	POLR1B	HP:0002084	Encephalocele
84172	POLR1B	HP:0002093	Respiratory insufficiency
84172	POLR1B	HP:0009554	Preauricular hair displacement
84172	POLR1B	HP:0004887	Respiratory failure requiring assisted ventilation
84172	POLR1B	HP:0010669	Hypoplasia of the zygomatic bone
84172	POLR1B	HP:0002381	Aphasia
84172	POLR1B	HP:0010807	Open bite
84172	POLR1B	HP:0009804	Tooth agenesis
84172	POLR1B	HP:0009795	Branchial fistula
84172	POLR1B	HP:0000643	Blepharospasm
84172	POLR1B	HP:0000612	Iris coloboma
84172	POLR1B	HP:0000625	Eyelid coloboma
84172	POLR1B	HP:0011386	Narrow internal auditory canal
84172	POLR1B	HP:0000682	Abnormal dental enamel morphology
84172	POLR1B	HP:0000652	Lower eyelid coloboma
84172	POLR1B	HP:0001999	Abnormal facial shape
84172	POLR1B	HP:0030680	Abnormality of cardiovascular system morphology
84172	POLR1B	HP:0004348	Abnormality of bone mineral density
84172	POLR1B	HP:0000778	Hypoplasia of the thymus
84172	POLR1B	HP:0005701	Multiple enchondromatosis
84172	POLR1B	HP:0000925	Abnormality of the vertebral column
84172	POLR1B	HP:0000834	Abnormality of the adrenal glands
84172	POLR1B	HP:0000278	Retrognathia
84172	POLR1B	HP:0000294	Low anterior hairline
84172	POLR1B	HP:0001595	Abnormal hair morphology
84172	POLR1B	HP:0000272	Malar flattening
84172	POLR1B	HP:0000252	Microcephaly
84172	POLR1B	HP:0000248	Brachycephaly
84172	POLR1B	HP:0000218	High palate
84172	POLR1B	HP:0000204	Cleft upper lip
84172	POLR1B	HP:0001508	Failure to thrive
84172	POLR1B	HP:0000384	Preauricular skin tag
84172	POLR1B	HP:0006482	Abnormality of dental morphology
84172	POLR1B	HP:0000370	Abnormality of the middle ear
84172	POLR1B	HP:0000347	Micrognathia
84172	POLR1B	HP:0000316	Hypertelorism
84172	POLR1B	HP:0001643	Patent ductus arteriosus
84172	POLR1B	HP:0000327	Hypoplasia of the maxilla
84172	POLR1B	HP:0000324	Facial asymmetry
84172	POLR1B	HP:0000405	Conductive hearing impairment
84172	POLR1B	HP:0000486	Strabismus
84172	POLR1B	HP:0000494	Downslanted palpebral fissures
84172	POLR1B	HP:0000453	Choanal atresia
84172	POLR1B	HP:0000452	Choanal stenosis
84172	POLR1B	HP:0000431	Wide nasal bridge
84172	POLR1B	HP:0000518	Cataract
84172	POLR1B	HP:0000505	Visual impairment
84172	POLR1B	HP:0000561	Absent eyelashes
84172	POLR1B	HP:0011219	Short face
84172	POLR1B	HP:0000568	Microphthalmia
84173	ELMOD3	HP:0000007	Autosomal recessive inheritance
84173	ELMOD3	HP:0000006	Autosomal dominant inheritance
84173	ELMOD3	HP:0011462	Young adult onset
84173	ELMOD3	HP:0000407	Sensorineural hearing impairment
84173	ELMOD3	HP:0001751	Abnormal vestibular function
84173	ELMOD3	HP:0000410	Mixed hearing impairment
84188	FAR1	HP:0002464	Spastic dysarthria
84188	FAR1	HP:0001118	Juvenile cataract
84188	FAR1	HP:0007256	Abnormal pyramidal sign
84188	FAR1	HP:0002425	Anarthria
84188	FAR1	HP:0001272	Cerebellar atrophy
84188	FAR1	HP:0001285	Spastic tetraparesis
84188	FAR1	HP:0001250	Seizure
84188	FAR1	HP:0001252	Hypotonia
84188	FAR1	HP:0001249	Intellectual disability
84188	FAR1	HP:0001260	Dysarthria
84188	FAR1	HP:0001263	Global developmental delay
84188	FAR1	HP:0001257	Spasticity
84188	FAR1	HP:0007371	Corpus callosum atrophy
84188	FAR1	HP:0007350	Hyperreflexia in upper limbs
84188	FAR1	HP:0002540	Inability to walk
84188	FAR1	HP:0002553	Highly arched eyebrow
84188	FAR1	HP:0002527	Falls
84188	FAR1	HP:0002500	Abnormal cerebral white matter morphology
84188	FAR1	HP:0000020	Urinary incontinence
84188	FAR1	HP:0001324	Muscle weakness
84188	FAR1	HP:0000012	Urinary urgency
84188	FAR1	HP:0000007	Autosomal recessive inheritance
84188	FAR1	HP:0001337	Tremor
84188	FAR1	HP:0000006	Autosomal dominant inheritance
84188	FAR1	HP:0001305	Dandy-Walker malformation
84188	FAR1	HP:0001317	Abnormal cerebellum morphology
84188	FAR1	HP:0008936	Axial hypotonia
84188	FAR1	HP:0002069	Bilateral tonic-clonic seizure
84188	FAR1	HP:0003394	Muscle spasm
84188	FAR1	HP:0002064	Spastic gait
84188	FAR1	HP:0002059	Cerebral atrophy
84188	FAR1	HP:0100515	Pollakisuria
84188	FAR1	HP:0003487	Babinski sign
84188	FAR1	HP:0002121	Generalized non-motor (absence) seizure
84188	FAR1	HP:0003419	Low back pain
84188	FAR1	HP:0002188	Delayed CNS myelination
84188	FAR1	HP:0002187	Intellectual disability, profound
84188	FAR1	HP:0002166	Impaired vibration sensation in the lower limbs
84188	FAR1	HP:0002172	Postural instability
84188	FAR1	HP:0003593	Infantile onset
84188	FAR1	HP:0002280	Enlarged cisterna magna
84188	FAR1	HP:0002395	Lower limb hyperreflexia
84188	FAR1	HP:0003698	Difficulty standing
84188	FAR1	HP:0002376	Developmental regression
84188	FAR1	HP:0002354	Memory impairment
84188	FAR1	HP:0002313	Spastic paraparesis
84188	FAR1	HP:0010832	Abnormality of pain sensation
84188	FAR1	HP:0006855	Cerebellar vermis atrophy
84188	FAR1	HP:0011397	Abnormality of the dorsal column of the spinal cord
84188	FAR1	HP:0006895	Lower limb hypertonia
84188	FAR1	HP:0001999	Abnormal facial shape
84188	FAR1	HP:0000666	Horizontal nystagmus
84188	FAR1	HP:0004322	Short stature
84188	FAR1	HP:0031936	Delayed ability to walk
84188	FAR1	HP:0000750	Delayed speech and language development
84188	FAR1	HP:0000726	Dementia
84188	FAR1	HP:0000709	Psychosis
84188	FAR1	HP:0003196	Short nose
84188	FAR1	HP:0033051	Impaired executive functioning
84188	FAR1	HP:0000280	Coarse facial features
84188	FAR1	HP:0000256	Macrocephaly
84188	FAR1	HP:0000253	Progressive microcephaly
84188	FAR1	HP:0000252	Microcephaly
84188	FAR1	HP:0000219	Thin upper lip vermilion
84188	FAR1	HP:0001510	Growth delay
84188	FAR1	HP:0000343	Long philtrum
84188	FAR1	HP:0000319	Smooth philtrum
84188	FAR1	HP:0000316	Hypertelorism
84188	FAR1	HP:0001653	Mitral regurgitation
84188	FAR1	HP:0011172	Complex febrile seizure
84188	FAR1	HP:0011153	Focal motor seizure
84188	FAR1	HP:0000407	Sensorineural hearing impairment
84188	FAR1	HP:0000400	Macrotia
84188	FAR1	HP:0005280	Depressed nasal bridge
84188	FAR1	HP:0012450	Chronic constipation
84188	FAR1	HP:0001761	Pes cavus
84188	FAR1	HP:0000518	Cataract
84188	FAR1	HP:0000519	Developmental cataract
84188	FAR1	HP:0000508	Ptosis
84188	FAR1	HP:0012514	Lower limb pain
84189	SLITRK6	HP:0000007	Autosomal recessive inheritance
84189	SLITRK6	HP:0003593	Infantile onset
84189	SLITRK6	HP:0003577	Congenital onset
84189	SLITRK6	HP:0011003	High myopia
84189	SLITRK6	HP:0000407	Sensorineural hearing impairment
84196	USP48	HP:0001123	Visual field defect
84196	USP48	HP:0010885	Avascular necrosis
84196	USP48	HP:0001297	Stroke
84196	USP48	HP:0025269	Panic attack
84196	USP48	HP:0025383	Dorsocervical fat pad
84196	USP48	HP:0012030	Increased urinary cortisol level
84196	USP48	HP:0002690	Large sella turcica
84196	USP48	HP:0001324	Muscle weakness
84196	USP48	HP:0000141	Amenorrhea
84196	USP48	HP:0031284	Flushing
84196	USP48	HP:0500011	Moon facies
84196	USP48	HP:0002721	Immunodeficiency
84196	USP48	HP:0002086	Abnormality of the respiratory system
84196	USP48	HP:0040270	Impaired glucose tolerance
84196	USP48	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
84196	USP48	HP:0008221	Adrenal hyperplasia
84196	USP48	HP:0008291	Pituitary corticotropic cell adenoma
84196	USP48	HP:0002209	Sparse scalp hair
84196	USP48	HP:0011999	Paranoia
84196	USP48	HP:0001058	Poor wound healing
84196	USP48	HP:0001050	Plethora
84196	USP48	HP:0025017	Capillary fragility
84196	USP48	HP:0001065	Striae distensae
84196	USP48	HP:0001061	Acne
84196	USP48	HP:0001007	Hirsutism
84196	USP48	HP:0002354	Memory impairment
84196	USP48	HP:0002315	Headache
84196	USP48	HP:0200042	Skin ulcer
84196	USP48	HP:0007126	Proximal amyotrophy
84196	USP48	HP:0010741	Pedal edema
84196	USP48	HP:0031845	Abnormal libido
84196	USP48	HP:0031891	Decreased eosinophil count
84196	USP48	HP:0001974	Leukocytosis
84196	USP48	HP:0001956	Truncal obesity
84196	USP48	HP:0011370	Recurrent cutaneous fungal infections
84196	USP48	HP:0004324	Increased body weight
84196	USP48	HP:0012743	Abdominal obesity
84196	USP48	HP:0000716	Depression
84196	USP48	HP:0000712	Emotional lability
84196	USP48	HP:0000726	Dementia
84196	USP48	HP:0000725	Psychotic episodes
84196	USP48	HP:0000709	Psychosis
84196	USP48	HP:0000708	Atypical behavior
84196	USP48	HP:0003118	Increased circulating cortisol level
84196	USP48	HP:0003154	Increased circulating ACTH level
84196	USP48	HP:0000876	Oligomenorrhea
84196	USP48	HP:0000869	Secondary amenorrhea
84196	USP48	HP:0000819	Diabetes mellitus
84196	USP48	HP:0000822	Hypertension
84196	USP48	HP:0010284	Intra-oral hyperpigmentation
84196	USP48	HP:0000979	Purpura
84196	USP48	HP:0000978	Bruising susceptibility
84196	USP48	HP:0000953	Hyperpigmentation of the skin
84196	USP48	HP:0000963	Thin skin
84196	USP48	HP:0000939	Osteoporosis
84196	USP48	HP:0031364	Ecchymosis
84196	USP48	HP:0007807	Optic nerve compression
84196	USP48	HP:0030200	Fatiguable weakness of proximal limb muscles
84196	USP48	HP:0001658	Myocardial infarction
84196	USP48	HP:0001626	Abnormality of the cardiovascular system
84196	USP48	HP:0002953	Vertebral compression fracture
84196	USP48	HP:0031589	Suicidal ideation
84196	USP48	HP:0001888	Lymphopenia
84197	POMK	HP:0002465	Poor speech
84197	POMK	HP:0007260	Type II lissencephaly
84197	POMK	HP:0007256	Abnormal pyramidal sign
84197	POMK	HP:0007227	Macrogyria
84197	POMK	HP:0002421	Poor head control
84197	POMK	HP:0003741	Congenital muscular dystrophy
84197	POMK	HP:0003707	Calf muscle pseudohypertrophy
84197	POMK	HP:0003701	Proximal muscle weakness
84197	POMK	HP:0003712	Skeletal muscle hypertrophy
84197	POMK	HP:0001274	Agenesis of corpus callosum
84197	POMK	HP:0001270	Motor delay
84197	POMK	HP:0001284	Areflexia
84197	POMK	HP:0001256	Intellectual disability, mild
84197	POMK	HP:0001250	Seizure
84197	POMK	HP:0001252	Hypotonia
84197	POMK	HP:0001249	Intellectual disability
84197	POMK	HP:0001265	Hyporeflexia
84197	POMK	HP:0001263	Global developmental delay
84197	POMK	HP:0008736	Hypoplasia of penis
84197	POMK	HP:0002536	Abnormal cortical gyration
84197	POMK	HP:0001371	Flexion contracture
84197	POMK	HP:0001347	Hyperreflexia
84197	POMK	HP:0000028	Cryptorchidism
84197	POMK	HP:0001331	Absent septum pellucidum
84197	POMK	HP:0001328	Specific learning disability
84197	POMK	HP:0001324	Muscle weakness
84197	POMK	HP:0001339	Lissencephaly
84197	POMK	HP:0000007	Autosomal recessive inheritance
84197	POMK	HP:0001305	Dandy-Walker malformation
84197	POMK	HP:0001302	Pachygyria
84197	POMK	HP:0002650	Scoliosis
84197	POMK	HP:0001321	Cerebellar hypoplasia
84197	POMK	HP:0001317	Abnormal cerebellum morphology
84197	POMK	HP:0001319	Neonatal hypotonia
84197	POMK	HP:0000193	Bifid uvula
84197	POMK	HP:0000158	Macroglossia
84197	POMK	HP:0000176	Submucous cleft hard palate
84197	POMK	HP:0000175	Cleft palate
84197	POMK	HP:0007663	Reduced visual acuity
84197	POMK	HP:0012110	Hypoplasia of the pons
84197	POMK	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
84197	POMK	HP:0002747	Respiratory insufficiency due to muscle weakness
84197	POMK	HP:0003325	Limb-girdle muscle weakness
84197	POMK	HP:0002085	Occipital encephalocele
84197	POMK	HP:0003391	Gowers sign
84197	POMK	HP:0002119	Ventriculomegaly
84197	POMK	HP:0002126	Polymicrogyria
84197	POMK	HP:0002198	Dilated fourth ventricle
84197	POMK	HP:0002169	Clonus
84197	POMK	HP:0010508	Metatarsus valgus
84197	POMK	HP:0003593	Infantile onset
84197	POMK	HP:0002269	Abnormality of neuronal migration
84197	POMK	HP:0003577	Congenital onset
84197	POMK	HP:0003551	Difficulty climbing stairs
84197	POMK	HP:0003560	Muscular dystrophy
84197	POMK	HP:0002282	Gray matter heterotopia
84197	POMK	HP:0002280	Enlarged cisterna magna
84197	POMK	HP:0011968	Feeding difficulties
84197	POMK	HP:0002365	Hypoplasia of the brainstem
84197	POMK	HP:0002363	Abnormal brainstem morphology
84197	POMK	HP:0002350	Cerebellar cyst
84197	POMK	HP:0002334	Abnormal cerebellar vermis morphology
84197	POMK	HP:0007204	Diffuse white matter abnormalities
84197	POMK	HP:0001090	Abnormally large globe
84197	POMK	HP:0031882	Agyria
84197	POMK	HP:0006889	Intellectual disability, borderline
84197	POMK	HP:0006899	Fusion of the cerebellar hemispheres
84197	POMK	HP:0000648	Optic atrophy
84197	POMK	HP:0000618	Blindness
84197	POMK	HP:0000612	Iris coloboma
84197	POMK	HP:0000609	Optic nerve hypoplasia
84197	POMK	HP:0012695	Decreased thalamic volume
84197	POMK	HP:0011344	Severe global developmental delay
84197	POMK	HP:0006955	Olivopontocerebellar hypoplasia
84197	POMK	HP:0034197	Third trimester onset
84197	POMK	HP:0031936	Delayed ability to walk
84197	POMK	HP:0040081	Abnormal circulating creatine kinase concentration
84197	POMK	HP:0003236	Elevated circulating creatine kinase concentration
84197	POMK	HP:0003202	Skeletal muscle atrophy
84197	POMK	HP:0045040	Abnormal lactate dehydrogenase level
84197	POMK	HP:0000256	Macrocephaly
84197	POMK	HP:0007731	Chorioretinal dysplasia
84197	POMK	HP:0030099	Reduced muscle fiber alpha dystroglycan
84197	POMK	HP:0000238	Hydrocephalus
84197	POMK	HP:0000253	Progressive microcephaly
84197	POMK	HP:0000252	Microcephaly
84197	POMK	HP:0030046	Hypoglycosylation of alpha-dystroglycan
84197	POMK	HP:0002938	Lumbar hyperlordosis
84197	POMK	HP:0000358	Posteriorly rotated ears
84197	POMK	HP:0000369	Low-set ears
84197	POMK	HP:0032792	Tonic seizure
84197	POMK	HP:0001638	Cardiomyopathy
84197	POMK	HP:0007957	Corneal opacity
84197	POMK	HP:0007973	Retinal dysplasia
84197	POMK	HP:0000407	Sensorineural hearing impairment
84197	POMK	HP:0000486	Strabismus
84197	POMK	HP:0000485	Megalocornea
84197	POMK	HP:0000482	Microcornea
84197	POMK	HP:0012443	Abnormality of brain morphology
84197	POMK	HP:0012400	Abnormal circulating aldolase concentration
84197	POMK	HP:0000411	Protruding ear
84197	POMK	HP:0000518	Cataract
84197	POMK	HP:0000528	Anophthalmia
84197	POMK	HP:0000525	Abnormality iris morphology
84197	POMK	HP:0000505	Visual impairment
84197	POMK	HP:0000501	Glaucoma
84197	POMK	HP:0000587	Abnormal optic nerve morphology
84197	POMK	HP:0000589	Coloboma
84197	POMK	HP:0000556	Retinal dystrophy
84197	POMK	HP:0000568	Microphthalmia
84197	POMK	HP:0000541	Retinal detachment
84197	POMK	HP:0000546	Retinal degeneration
84197	POMK	HP:0000545	Myopia
84225	ZMYND15	HP:0008734	Decreased testicular size
84225	ZMYND15	HP:0031040	Late spermatogenesis maturation arrest
84225	ZMYND15	HP:0008669	Abnormal spermatogenesis
84225	ZMYND15	HP:0000027	Azoospermia
84225	ZMYND15	HP:0000007	Autosomal recessive inheritance
84225	ZMYND15	HP:0000118	Phenotypic abnormality
84225	ZMYND15	HP:0008232	Elevated circulating follicle stimulating hormone level
84225	ZMYND15	HP:0011961	Non-obstructive azoospermia
84225	ZMYND15	HP:0011962	Obstructive azoospermia
84225	ZMYND15	HP:0011462	Young adult onset
84225	ZMYND15	HP:0000837	Increased circulating gonadotropin level
84225	ZMYND15	HP:0040086	Abnormal prolactin level
84225	ZMYND15	HP:0003251	Male infertility
84225	ZMYND15	HP:0030087	Abnormal circulating testosterone concentration
84225	ZMYND15	HP:0030345	Abnormal circulating luteinizing hormone concentration
84231	TRAF7	HP:0001195	Single umbilical artery
84231	TRAF7	HP:0001276	Hypertonia
84231	TRAF7	HP:0001270	Motor delay
84231	TRAF7	HP:0001269	Hemiparesis
84231	TRAF7	HP:0001279	Syncope
84231	TRAF7	HP:0001250	Seizure
84231	TRAF7	HP:0001252	Hypotonia
84231	TRAF7	HP:0001251	Ataxia
84231	TRAF7	HP:0001263	Global developmental delay
84231	TRAF7	HP:0001262	Excessive daytime somnolence
84231	TRAF7	HP:0010997	Chromosomal breakage induced by ionizing radiation
84231	TRAF7	HP:0007359	Focal-onset seizure
84231	TRAF7	HP:0007340	Lower limb muscle weakness
84231	TRAF7	HP:0002516	Increased intracranial pressure
84231	TRAF7	HP:0002512	Brain stem compression
84231	TRAF7	HP:0000044	Hypogonadotropic hypogonadism
84231	TRAF7	HP:0000020	Urinary incontinence
84231	TRAF7	HP:0001342	Cerebral hemorrhage
84231	TRAF7	HP:0000006	Autosomal dominant inheritance
84231	TRAF7	HP:0001317	Abnormal cerebellum morphology
84231	TRAF7	HP:0002643	Neonatal respiratory distress
84231	TRAF7	HP:0000141	Amenorrhea
84231	TRAF7	HP:0002017	Nausea and vomiting
84231	TRAF7	HP:0005989	Redundant neck skin
84231	TRAF7	HP:0100543	Cognitive impairment
84231	TRAF7	HP:0002059	Cerebral atrophy
84231	TRAF7	HP:0011752	Neoplasm of the posterior pituitary
84231	TRAF7	HP:0011750	Neoplasm of the anterior pituitary
84231	TRAF7	HP:0011730	Abnormal central sensory function
84231	TRAF7	HP:0008163	Decreased circulating cortisol level
84231	TRAF7	HP:0002144	Tethered cord
84231	TRAF7	HP:0003484	Upper limb muscle weakness
84231	TRAF7	HP:0002119	Ventriculomegaly
84231	TRAF7	HP:0003418	Back pain
84231	TRAF7	HP:0002167	Abnormality of speech or vocalization
84231	TRAF7	HP:0008240	Secondary growth hormone deficiency
84231	TRAF7	HP:0008245	Pituitary hypothyroidism
84231	TRAF7	HP:0008237	Hypothalamic hypothyroidism
84231	TRAF7	HP:0010534	Transient global amnesia
84231	TRAF7	HP:0008214	Decreased serum estradiol
84231	TRAF7	HP:0008202	Reduced circulating prolactin concentration
84231	TRAF7	HP:0003593	Infantile onset
84231	TRAF7	HP:0003577	Congenital onset
84231	TRAF7	HP:0100704	Cerebral visual impairment
84231	TRAF7	HP:0011968	Feeding difficulties
84231	TRAF7	HP:0010628	Facial palsy
84231	TRAF7	HP:0001067	Neurofibromas
84231	TRAF7	HP:0002355	Difficulty walking
84231	TRAF7	HP:0002354	Memory impairment
84231	TRAF7	HP:0002315	Headache
84231	TRAF7	HP:0100648	Neoplasm of the tongue
84231	TRAF7	HP:0100661	Trigeminal neuralgia
84231	TRAF7	HP:0010828	Hemifacial spasm
84231	TRAF7	HP:0010813	Abnormal number of hair whorls
84231	TRAF7	HP:0001085	Papilledema
84231	TRAF7	HP:0003623	Neonatal onset
84231	TRAF7	HP:0004935	Pulmonary artery atresia
84231	TRAF7	HP:0030521	Bitemporal hemianopia
84231	TRAF7	HP:0006824	Cranial nerve paralysis
84231	TRAF7	HP:0030532	Visual acuity test abnormality
84231	TRAF7	HP:0000648	Optic atrophy
84231	TRAF7	HP:0000618	Blindness
84231	TRAF7	HP:0000602	Ophthalmoplegia
84231	TRAF7	HP:0012691	Focal T2 hypointense thalamic lesion
84231	TRAF7	HP:0012658	Abnormal brain FDG positron emission tomography
84231	TRAF7	HP:0004302	Functional motor deficit
84231	TRAF7	HP:0000802	Impotence
84231	TRAF7	HP:0004383	Hypoplastic left heart
84231	TRAF7	HP:0100010	Spinal meningioma
84231	TRAF7	HP:0100009	Intracranial meningioma
84231	TRAF7	HP:0000750	Delayed speech and language development
84231	TRAF7	HP:0000712	Emotional lability
84231	TRAF7	HP:0030591	Abnormal kinetic perimetry test
84231	TRAF7	HP:0011442	Abnormal central motor function
84231	TRAF7	HP:0030766	Ear pain
84231	TRAF7	HP:0004408	Abnormality of the sense of smell
84231	TRAF7	HP:0000870	Increased circulating prolactin concentration
84231	TRAF7	HP:0011560	Mitral atresia
84231	TRAF7	HP:0030878	Abnormality on pulmonary function testing
84231	TRAF7	HP:0045026	Abnormal mediastinum morphology
84231	TRAF7	HP:0034349	Supravalvar pulmonary stenosis
84231	TRAF7	HP:0040171	Decreased serum testosterone concentration
84231	TRAF7	HP:0008069	Neoplasm of the skin
84231	TRAF7	HP:0007715	Weak extraocular muscles
84231	TRAF7	HP:0012285	Abnormal hypothalamus physiology
84231	TRAF7	HP:0000286	Epicanthus
84231	TRAF7	HP:0012246	Oculomotor nerve palsy
84231	TRAF7	HP:0030084	Clinodactyly
84231	TRAF7	HP:0000238	Hydrocephalus
84231	TRAF7	HP:0001537	Umbilical hernia
84231	TRAF7	HP:0001511	Intrauterine growth retardation
84231	TRAF7	HP:0001513	Obesity
84231	TRAF7	HP:0006520	Progressive pulmonary function impairment
84231	TRAF7	HP:0002920	Decreased circulating ACTH level
84231	TRAF7	HP:0000365	Hearing impairment
84231	TRAF7	HP:0000360	Tinnitus
84231	TRAF7	HP:0000369	Low-set ears
84231	TRAF7	HP:0001680	Coarctation of aorta
84231	TRAF7	HP:0001650	Aortic valve stenosis
84231	TRAF7	HP:0001643	Patent ductus arteriosus
84231	TRAF7	HP:0006610	Wide intermamillary distance
84231	TRAF7	HP:0007924	Slow decrease in visual acuity
84231	TRAF7	HP:0001719	Double outlet right ventricle
84231	TRAF7	HP:0000476	Cystic hygroma
84231	TRAF7	HP:0011133	Increased sensitivity to ionizing radiation
84231	TRAF7	HP:0000474	Thickened nuchal skin fold
84231	TRAF7	HP:0012505	Enlarged pituitary gland
84231	TRAF7	HP:0000520	Proptosis
84231	TRAF7	HP:0000508	Ptosis
84231	TRAF7	HP:0030344	Decreased circulating luteinizing hormone level
84231	TRAF7	HP:0030341	Decreased circulating follicle stimulating hormone concentration
84233	TMEM126A	HP:0001133	Constriction of peripheral visual field
84233	TMEM126A	HP:0003828	Variable expressivity
84233	TMEM126A	HP:0000007	Autosomal recessive inheritance
84233	TMEM126A	HP:0007663	Reduced visual acuity
84233	TMEM126A	HP:0007641	Dyschromatopsia
84233	TMEM126A	HP:0000648	Optic atrophy
84233	TMEM126A	HP:0000603	Central scotoma
84233	TMEM126A	HP:0000666	Horizontal nystagmus
84233	TMEM126A	HP:0000980	Pallor
84233	TMEM126A	HP:0001639	Hypertrophic cardiomyopathy
84233	TMEM126A	HP:0000407	Sensorineural hearing impairment
84233	TMEM126A	HP:0000486	Strabismus
84233	TMEM126A	HP:0000505	Visual impairment
84233	TMEM126A	HP:0000543	Optic disc pallor
84265	POLR3GL	HP:0003701	Proximal muscle weakness
84265	POLR3GL	HP:0001270	Motor delay
84265	POLR3GL	HP:0001252	Hypotonia
84265	POLR3GL	HP:0001260	Dysarthria
84265	POLR3GL	HP:0001388	Joint laxity
84265	POLR3GL	HP:0000010	Recurrent urinary tract infections
84265	POLR3GL	HP:0000007	Autosomal recessive inheritance
84265	POLR3GL	HP:0002079	Hypoplasia of the corpus callosum
84265	POLR3GL	HP:0003418	Back pain
84265	POLR3GL	HP:0100704	Cerebral visual impairment
84265	POLR3GL	HP:0002313	Spastic paraparesis
84265	POLR3GL	HP:0008454	Lumbar kyphosis
84265	POLR3GL	HP:0000646	Amblyopia
84265	POLR3GL	HP:0000677	Oligodontia
84265	POLR3GL	HP:0004322	Short stature
84265	POLR3GL	HP:0005617	Bilateral camptodactyly
84265	POLR3GL	HP:0000821	Hypothyroidism
84265	POLR3GL	HP:0000824	Decreased response to growth hormone stimulation test
84265	POLR3GL	HP:0000823	Delayed puberty
84265	POLR3GL	HP:0033044	Motor regression
84265	POLR3GL	HP:0007787	Posterior subcapsular cataract
84265	POLR3GL	HP:0000252	Microcephaly
84265	POLR3GL	HP:0001537	Umbilical hernia
84265	POLR3GL	HP:0001510	Growth delay
84265	POLR3GL	HP:0012378	Fatigue
84265	POLR3GL	HP:0002938	Lumbar hyperlordosis
84265	POLR3GL	HP:0000319	Smooth philtrum
84265	POLR3GL	HP:0001730	Progressive hearing impairment
84265	POLR3GL	HP:0000483	Astigmatism
84265	POLR3GL	HP:0001770	Toe syndactyly
84265	POLR3GL	HP:0001762	Talipes equinovarus
84265	POLR3GL	HP:0001847	Long hallux
84265	POLR3GL	HP:0000520	Proptosis
84265	POLR3GL	HP:0000582	Upslanted palpebral fissure
84274	COQ5	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
84274	COQ5	HP:0010865	Oppositional defiant disorder
84274	COQ5	HP:0001298	Encephalopathy
84274	COQ5	HP:0001272	Cerebellar atrophy
84274	COQ5	HP:0001251	Ataxia
84274	COQ5	HP:0001263	Global developmental delay
84274	COQ5	HP:0001348	Brisk reflexes
84274	COQ5	HP:0000007	Autosomal recessive inheritance
84274	COQ5	HP:0001337	Tremor
84274	COQ5	HP:0001336	Myoclonus
84274	COQ5	HP:0001310	Dysmetria
84274	COQ5	HP:0002061	Lower limb spasticity
84274	COQ5	HP:0010602	Type 2 muscle fiber predominance
84274	COQ5	HP:0100710	Impulsivity
84274	COQ5	HP:0000666	Horizontal nystagmus
84274	COQ5	HP:0000736	Short attention span
84274	COQ5	HP:0031629	Impaired tandem gait
84274	COQ5	HP:0000514	Slow saccadic eye movements
84274	COQ5	HP:0000571	Hypometric saccades
84277	DNAJC30	HP:0001181	Adducted thumb
84277	DNAJC30	HP:0001136	Retinal arteriolar tortuosity
84277	DNAJC30	HP:0010880	Increased nuchal translucency
84277	DNAJC30	HP:0001297	Stroke
84277	DNAJC30	HP:0100817	Renovascular hypertension
84277	DNAJC30	HP:0001288	Gait disturbance
84277	DNAJC30	HP:0001252	Hypotonia
84277	DNAJC30	HP:0001251	Ataxia
84277	DNAJC30	HP:0001249	Intellectual disability
84277	DNAJC30	HP:0001260	Dysarthria
84277	DNAJC30	HP:0001257	Spasticity
84277	DNAJC30	HP:0001231	Abnormal fingernail morphology
84277	DNAJC30	HP:0002575	Tracheoesophageal fistula
84277	DNAJC30	HP:0008736	Hypoplasia of penis
84277	DNAJC30	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
84277	DNAJC30	HP:0008661	Urethral stenosis
84277	DNAJC30	HP:0000089	Renal hypoplasia
84277	DNAJC30	HP:0000083	Renal insufficiency
84277	DNAJC30	HP:0000093	Proteinuria
84277	DNAJC30	HP:0000076	Vesicoureteral reflux
84277	DNAJC30	HP:0000075	Renal duplication
84277	DNAJC30	HP:0000044	Hypogonadotropic hypogonadism
84277	DNAJC30	HP:0001388	Joint laxity
84277	DNAJC30	HP:0001387	Joint stiffness
84277	DNAJC30	HP:0000023	Inguinal hernia
84277	DNAJC30	HP:0000015	Bladder diverticulum
84277	DNAJC30	HP:0000014	Abnormality of the bladder
84277	DNAJC30	HP:0001347	Hyperreflexia
84277	DNAJC30	HP:0001361	Nystagmus-induced head nodding
84277	DNAJC30	HP:0000025	Functional abnormality of male internal genitalia
84277	DNAJC30	HP:0000028	Cryptorchidism
84277	DNAJC30	HP:0007495	Prematurely aged appearance
84277	DNAJC30	HP:0007477	Abnormal dermatoglyphics
84277	DNAJC30	HP:0000010	Recurrent urinary tract infections
84277	DNAJC30	HP:0000007	Autosomal recessive inheritance
84277	DNAJC30	HP:0001337	Tremor
84277	DNAJC30	HP:0001310	Dysmetria
84277	DNAJC30	HP:0002637	Cerebral ischemia
84277	DNAJC30	HP:0002650	Scoliosis
84277	DNAJC30	HP:0002644	Abnormal pelvic girdle bone morphology
84277	DNAJC30	HP:0002623	Overriding aorta
84277	DNAJC30	HP:0000179	Thick lower lip vermilion
84277	DNAJC30	HP:0000158	Macroglossia
84277	DNAJC30	HP:0000154	Wide mouth
84277	DNAJC30	HP:0000147	Polycystic ovaries
84277	DNAJC30	HP:0007663	Reduced visual acuity
84277	DNAJC30	HP:0000121	Nephrocalcinosis
84277	DNAJC30	HP:0000125	Pelvic kidney
84277	DNAJC30	HP:0002750	Delayed skeletal maturation
84277	DNAJC30	HP:0002024	Malabsorption
84277	DNAJC30	HP:0002020	Gastroesophageal reflux
84277	DNAJC30	HP:0002019	Constipation
84277	DNAJC30	HP:0002017	Nausea and vomiting
84277	DNAJC30	HP:0002035	Rectal prolapse
84277	DNAJC30	HP:0002027	Abdominal pain
84277	DNAJC30	HP:0003312	Abnormal form of the vertebral bodies
84277	DNAJC30	HP:0003307	Hyperlordosis
84277	DNAJC30	HP:0005978	Type II diabetes mellitus
84277	DNAJC30	HP:0100539	Periorbital edema
84277	DNAJC30	HP:0100545	Arterial stenosis
84277	DNAJC30	HP:0002071	Abnormality of extrapyramidal motor function
84277	DNAJC30	HP:0002141	Gait imbalance
84277	DNAJC30	HP:0002150	Hypercalciuria
84277	DNAJC30	HP:0002120	Cerebral cortical atrophy
84277	DNAJC30	HP:0003422	Vertebral segmentation defect
84277	DNAJC30	HP:0002183	Phonophobia
84277	DNAJC30	HP:0002167	Abnormality of speech or vocalization
84277	DNAJC30	HP:0002174	Postural tremor
84277	DNAJC30	HP:0010526	Dysgraphia
84277	DNAJC30	HP:0002253	Colonic diverticula
84277	DNAJC30	HP:0002205	Recurrent respiratory infections
84277	DNAJC30	HP:0100785	Insomnia
84277	DNAJC30	HP:0200125	Mitochondrial respiratory chain defects
84277	DNAJC30	HP:0010662	Abnormality of the diencephalon
84277	DNAJC30	HP:0010669	Hypoplasia of the zygomatic bone
84277	DNAJC30	HP:0007018	Attention deficit hyperactivity disorder
84277	DNAJC30	HP:0001052	Nevus flammeus
84277	DNAJC30	HP:0002376	Developmental regression
84277	DNAJC30	HP:0200021	Down-sloping shoulders
84277	DNAJC30	HP:0100659	Abnormal cerebral vascular morphology
84277	DNAJC30	HP:0009830	Peripheral neuropathy
84277	DNAJC30	HP:0010807	Open bite
84277	DNAJC30	HP:0100613	Death in early adulthood
84277	DNAJC30	HP:0001081	Cholelithiasis
84277	DNAJC30	HP:0008499	High hypermetropia
84277	DNAJC30	HP:0020120	Retinal nerve fiber edema
84277	DNAJC30	HP:0010780	Hyperacusis
84277	DNAJC30	HP:0002308	Chiari malformation
84277	DNAJC30	HP:0004969	Peripheral pulmonary artery stenosis
84277	DNAJC30	HP:0003621	Juvenile onset
84277	DNAJC30	HP:0004209	Clinodactyly of the 5th finger
84277	DNAJC30	HP:0004295	Abnormal gastric mucosa morphology
84277	DNAJC30	HP:0005562	Multiple renal cysts
84277	DNAJC30	HP:0001969	Abnormal tubulointerstitial morphology
84277	DNAJC30	HP:0000635	Blue irides
84277	DNAJC30	HP:0000632	Lacrimation abnormality
84277	DNAJC30	HP:0000648	Optic atrophy
84277	DNAJC30	HP:0000627	Posterior embryotoxon
84277	DNAJC30	HP:0000622	Blurred vision
84277	DNAJC30	HP:0000603	Central scotoma
84277	DNAJC30	HP:0000682	Abnormal dental enamel morphology
84277	DNAJC30	HP:0000691	Microdontia
84277	DNAJC30	HP:0000689	Dental malocclusion
84277	DNAJC30	HP:0000670	Carious teeth
84277	DNAJC30	HP:0012639	Abnormal nervous system morphology
84277	DNAJC30	HP:0000668	Hypodontia
84277	DNAJC30	HP:0004322	Short stature
84277	DNAJC30	HP:0004309	Ventricular preexcitation
84277	DNAJC30	HP:0004306	Abnormal endocardium morphology
84277	DNAJC30	HP:0004305	Involuntary movements
84277	DNAJC30	HP:0003072	Hypercalcemia
84277	DNAJC30	HP:0004381	Supravalvular aortic stenosis
84277	DNAJC30	HP:0004398	Peptic ulcer
84277	DNAJC30	HP:0005692	Joint hyperflexibility
84277	DNAJC30	HP:0003028	Abnormality of the ankle
84277	DNAJC30	HP:0100025	Overfriendliness
84277	DNAJC30	HP:0000767	Pectus excavatum
84277	DNAJC30	HP:0000739	Anxiety
84277	DNAJC30	HP:0000716	Depression
84277	DNAJC30	HP:0000717	Autism
84277	DNAJC30	HP:0000722	Compulsive behaviors
84277	DNAJC30	HP:0011463	Childhood onset
84277	DNAJC30	HP:0011462	Young adult onset
84277	DNAJC30	HP:0000787	Nephrolithiasis
84277	DNAJC30	HP:0003119	Abnormal circulating lipid concentration
84277	DNAJC30	HP:0004428	Elfin facies
84277	DNAJC30	HP:0003198	Myopathy
84277	DNAJC30	HP:0003196	Short nose
84277	DNAJC30	HP:0012841	Retinal vascular tortuosity
84277	DNAJC30	HP:0000826	Precocious puberty
84277	DNAJC30	HP:0000822	Hypertension
84277	DNAJC30	HP:0000821	Hypothyroidism
84277	DNAJC30	HP:0003236	Elevated circulating creatine kinase concentration
84277	DNAJC30	HP:0003298	Spina bifida occulta
84277	DNAJC30	HP:0000960	Sacral dimple
84277	DNAJC30	HP:0000939	Osteoporosis
84277	DNAJC30	HP:0000938	Osteopenia
84277	DNAJC30	HP:0100240	Synostosis of joints
84277	DNAJC30	HP:0008053	Aplasia/Hypoplasia of the iris
84277	DNAJC30	HP:0011675	Arrhythmia
84277	DNAJC30	HP:0007720	Flat cornea
84277	DNAJC30	HP:0000286	Epicanthus
84277	DNAJC30	HP:0000280	Coarse facial features
84277	DNAJC30	HP:0000275	Narrow face
84277	DNAJC30	HP:0005113	Aortic arch aneurysm
84277	DNAJC30	HP:0007763	Retinal telangiectasia
84277	DNAJC30	HP:0007768	Central retinal vessel vascular tortuosity
84277	DNAJC30	HP:0002829	Arthralgia
84277	DNAJC30	HP:0002808	Kyphosis
84277	DNAJC30	HP:0000252	Microcephaly
84277	DNAJC30	HP:0001582	Redundant skin
84277	DNAJC30	HP:0000212	Gingival overgrowth
84277	DNAJC30	HP:0000232	Everted lower lip vermilion
84277	DNAJC30	HP:0001531	Failure to thrive in infancy
84277	DNAJC30	HP:0002857	Genu valgum
84277	DNAJC30	HP:0001537	Umbilical hernia
84277	DNAJC30	HP:0001513	Obesity
84277	DNAJC30	HP:0000389	Chronic otitis media
84277	DNAJC30	HP:0001609	Hoarse voice
84277	DNAJC30	HP:0001608	Abnormality of the voice
84277	DNAJC30	HP:0001618	Dysphonia
84277	DNAJC30	HP:0006482	Abnormality of dental morphology
84277	DNAJC30	HP:0000368	Low-set, posteriorly rotated ears
84277	DNAJC30	HP:0001671	Abnormal cardiac septum morphology
84277	DNAJC30	HP:0000343	Long philtrum
84277	DNAJC30	HP:0011001	Increased bone mineral density
84277	DNAJC30	HP:0000337	Broad forehead
84277	DNAJC30	HP:0002999	Patellar dislocation
84277	DNAJC30	HP:0000348	High forehead
84277	DNAJC30	HP:0000347	Micrognathia
84277	DNAJC30	HP:0001647	Bicuspid aortic valve
84277	DNAJC30	HP:0001643	Patent ductus arteriosus
84277	DNAJC30	HP:0001642	Pulmonic stenosis
84277	DNAJC30	HP:0001645	Sudden cardiac death
84277	DNAJC30	HP:0002974	Radioulnar synostosis
84277	DNAJC30	HP:0001658	Myocardial infarction
84277	DNAJC30	HP:0001653	Mitral regurgitation
84277	DNAJC30	HP:0001629	Ventricular septal defect
84277	DNAJC30	HP:0001626	Abnormality of the cardiovascular system
84277	DNAJC30	HP:0001640	Cardiomegaly
84277	DNAJC30	HP:0001639	Hypertrophic cardiomyopathy
84277	DNAJC30	HP:0001636	Tetralogy of Fallot
84277	DNAJC30	HP:0001635	Congestive heart failure
84277	DNAJC30	HP:0000307	Pointed chin
84277	DNAJC30	HP:0001631	Atrial septal defect
84277	DNAJC30	HP:0001634	Mitral valve prolapse
84277	DNAJC30	HP:0007957	Corneal opacity
84277	DNAJC30	HP:0007924	Slow decrease in visual acuity
84277	DNAJC30	HP:0005344	Abnormal carotid artery morphology
84277	DNAJC30	HP:0000407	Sensorineural hearing impairment
84277	DNAJC30	HP:0000400	Macrotia
84277	DNAJC30	HP:0000486	Strabismus
84277	DNAJC30	HP:0000485	Megalocornea
84277	DNAJC30	HP:0000464	Abnormality of the neck
84277	DNAJC30	HP:0012433	Abnormal social behavior
84277	DNAJC30	HP:0001763	Pes planus
84277	DNAJC30	HP:0000411	Protruding ear
84277	DNAJC30	HP:0000431	Wide nasal bridge
84277	DNAJC30	HP:0000518	Cataract
84277	DNAJC30	HP:0001822	Hallux valgus
84277	DNAJC30	HP:0000505	Visual impairment
84277	DNAJC30	HP:0000501	Glaucoma
84277	DNAJC30	HP:0001800	Hypoplastic toenails
84277	DNAJC30	HP:0000581	Blepharophimosis
84277	DNAJC30	HP:0000576	Centrocecal scotoma
84277	DNAJC30	HP:0000545	Myopia
84282	RNF135	HP:0001256	Intellectual disability, mild
84282	RNF135	HP:0000098	Tall stature
84282	RNF135	HP:0000179	Thick lower lip vermilion
84282	RNF135	HP:0000609	Optic nerve hypoplasia
84282	RNF135	HP:0001999	Abnormal facial shape
84282	RNF135	HP:0005616	Accelerated skeletal maturation
84282	RNF135	HP:0030680	Abnormality of cardiovascular system morphology
84282	RNF135	HP:0012741	Unilateral cryptorchidism
84282	RNF135	HP:0000766	Abnormal sternum morphology
84282	RNF135	HP:0000768	Pectus carinatum
84282	RNF135	HP:0000729	Autistic behavior
84282	RNF135	HP:0008058	Aplasia/Hypoplasia of the optic nerve
84282	RNF135	HP:0000256	Macrocephaly
84282	RNF135	HP:0000267	Cranial asymmetry
84282	RNF135	HP:0001548	Overgrowth
84282	RNF135	HP:0000219	Thin upper lip vermilion
84282	RNF135	HP:0001520	Large for gestational age
84282	RNF135	HP:0011098	Speech apraxia
84282	RNF135	HP:0000365	Hearing impairment
84282	RNF135	HP:0000343	Long philtrum
84282	RNF135	HP:0000337	Broad forehead
84282	RNF135	HP:0001642	Pulmonic stenosis
84282	RNF135	HP:0001641	Abnormal pulmonary valve morphology
84282	RNF135	HP:0000486	Strabismus
84282	RNF135	HP:0000494	Downslanted palpebral fissures
84282	RNF135	HP:0000455	Broad nasal tip
84295	PHF6	HP:0001182	Tapered finger
84295	PHF6	HP:0010864	Intellectual disability, severe
84295	PHF6	HP:0001290	Generalized hypotonia
84295	PHF6	HP:0001250	Seizure
84295	PHF6	HP:0001252	Hypotonia
84295	PHF6	HP:0001249	Intellectual disability
84295	PHF6	HP:0006110	Shortening of all middle phalanges of the fingers
84295	PHF6	HP:0006118	Shortening of all distal phalanges of the fingers
84295	PHF6	HP:0008734	Decreased testicular size
84295	PHF6	HP:0008736	Hypoplasia of penis
84295	PHF6	HP:0008687	Hypoplasia of the prostate
84295	PHF6	HP:0000046	Small scrotum
84295	PHF6	HP:0000054	Micropenis
84295	PHF6	HP:0002684	Thickened calvaria
84295	PHF6	HP:0000028	Cryptorchidism
84295	PHF6	HP:0008872	Feeding difficulties in infancy
84295	PHF6	HP:0002650	Scoliosis
84295	PHF6	HP:0000135	Hypogonadism
84295	PHF6	HP:0001419	X-linked recessive inheritance
84295	PHF6	HP:0009748	Large earlobe
84295	PHF6	HP:0002353	EEG abnormality
84295	PHF6	HP:0009830	Peripheral neuropathy
84295	PHF6	HP:0008478	Scheuermann-like vertebral changes
84295	PHF6	HP:0008445	Cervical spinal canal stenosis
84295	PHF6	HP:0000639	Nystagmus
84295	PHF6	HP:0001956	Truncal obesity
84295	PHF6	HP:0004322	Short stature
84295	PHF6	HP:0005692	Joint hyperflexibility
84295	PHF6	HP:0000771	Gynecomastia
84295	PHF6	HP:0000823	Delayed puberty
84295	PHF6	HP:0003202	Skeletal muscle atrophy
84295	PHF6	HP:0003272	Abnormal hip bone morphology
84295	PHF6	HP:0045025	Narrow palpebral fissure
84295	PHF6	HP:0008094	Widely spaced toes
84295	PHF6	HP:0008070	Sparse hair
84295	PHF6	HP:0000280	Coarse facial features
84295	PHF6	HP:0000256	Macrocephaly
84295	PHF6	HP:0002808	Kyphosis
84295	PHF6	HP:0000252	Microcephaly
84295	PHF6	HP:0000202	Orofacial cleft
84295	PHF6	HP:0001513	Obesity
84295	PHF6	HP:0000365	Hearing impairment
84295	PHF6	HP:0000336	Prominent supraorbital ridges
84295	PHF6	HP:0000400	Macrotia
84295	PHF6	HP:0000490	Deeply set eye
84295	PHF6	HP:0001769	Broad foot
84295	PHF6	HP:0000518	Cataract
84295	PHF6	HP:0000508	Ptosis
84295	PHF6	HP:0001836	Camptodactyly of toe
84295	PHF6	HP:0000505	Visual impairment
84295	PHF6	HP:0001831	Short toe
84295	PHF6	HP:0000581	Blepharophimosis
84295	PHF6	HP:0000574	Thick eyebrow
84300	UQCC2	HP:0002490	Increased CSF lactate
84300	UQCC2	HP:0002465	Poor speech
84300	UQCC2	HP:0001250	Seizure
84300	UQCC2	HP:0001252	Hypotonia
84300	UQCC2	HP:0001263	Global developmental delay
84300	UQCC2	HP:0000028	Cryptorchidism
84300	UQCC2	HP:0000007	Autosomal recessive inheritance
84300	UQCC2	HP:0001319	Neonatal hypotonia
84300	UQCC2	HP:0002013	Vomiting
84300	UQCC2	HP:0002049	Proximal renal tubular acidosis
84300	UQCC2	HP:0002151	Increased serum lactate
84300	UQCC2	HP:0002133	Status epilepticus
84300	UQCC2	HP:0011924	Decreased activity of mitochondrial complex III
84300	UQCC2	HP:0011923	Decreased activity of mitochondrial complex I
84300	UQCC2	HP:0008347	Decreased activity of mitochondrial complex IV
84300	UQCC2	HP:0008314	Decreased activity of mitochondrial complex II
84300	UQCC2	HP:0003623	Neonatal onset
84300	UQCC2	HP:0004902	Congenital lactic acidosis
84300	UQCC2	HP:0001942	Metabolic acidosis
84300	UQCC2	HP:0000664	Synophrys
84300	UQCC2	HP:0000752	Hyperactivity
84300	UQCC2	HP:0000718	Aggressive behavior
84300	UQCC2	HP:0003128	Lactic acidosis
84300	UQCC2	HP:0100259	Postaxial polydactyly
84300	UQCC2	HP:0000286	Epicanthus
84300	UQCC2	HP:0001562	Oligohydramnios
84300	UQCC2	HP:0001508	Failure to thrive
84300	UQCC2	HP:0001511	Intrauterine growth retardation
84300	UQCC2	HP:0001623	Breech presentation
84300	UQCC2	HP:0000407	Sensorineural hearing impairment
84300	UQCC2	HP:0005280	Depressed nasal bridge
84300	UQCC2	HP:0000582	Upslanted palpebral fissure
84314	TMEM107	HP:0001177	Preaxial hand polydactyly
84314	TMEM107	HP:0001162	Postaxial hand polydactyly
84314	TMEM107	HP:0010864	Intellectual disability, severe
84314	TMEM107	HP:0002419	Molar tooth sign on MRI
84314	TMEM107	HP:0001270	Motor delay
84314	TMEM107	HP:0001252	Hypotonia
84314	TMEM107	HP:0001251	Ataxia
84314	TMEM107	HP:0001249	Intellectual disability
84314	TMEM107	HP:0001263	Global developmental delay
84314	TMEM107	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
84314	TMEM107	HP:0002540	Inability to walk
84314	TMEM107	HP:0000068	Urethral atresia
84314	TMEM107	HP:0000062	Ambiguous genitalia
84314	TMEM107	HP:0000073	Ureteral duplication
84314	TMEM107	HP:0001371	Flexion contracture
84314	TMEM107	HP:0000037	Male pseudohermaphroditism
84314	TMEM107	HP:0000023	Inguinal hernia
84314	TMEM107	HP:0000028	Cryptorchidism
84314	TMEM107	HP:0000007	Autosomal recessive inheritance
84314	TMEM107	HP:0000003	Multicystic kidney dysplasia
84314	TMEM107	HP:0001305	Dandy-Walker malformation
84314	TMEM107	HP:0001321	Cerebellar hypoplasia
84314	TMEM107	HP:0002612	Congenital hepatic fibrosis
84314	TMEM107	HP:0000175	Cleft palate
84314	TMEM107	HP:0000113	Polycystic kidney dysplasia
84314	TMEM107	HP:0011802	Hamartoma of tongue
84314	TMEM107	HP:0002085	Occipital encephalocele
84314	TMEM107	HP:0002084	Encephalocele
84314	TMEM107	HP:0010459	True hermaphroditism
84314	TMEM107	HP:0002119	Ventriculomegaly
84314	TMEM107	HP:0002104	Apnea
84314	TMEM107	HP:0003577	Congenital onset
84314	TMEM107	HP:0100732	Pancreatic fibrosis
84314	TMEM107	HP:0002282	Gray matter heterotopia
84314	TMEM107	HP:0002323	Anencephaly
84314	TMEM107	HP:0006870	Lobar holoprosencephaly
84314	TMEM107	HP:0000648	Optic atrophy
84314	TMEM107	HP:0000647	Sclerocornea
84314	TMEM107	HP:0000657	Oculomotor apraxia
84314	TMEM107	HP:0030680	Abnormality of cardiovascular system morphology
84314	TMEM107	HP:0012745	Short palpebral fissure
84314	TMEM107	HP:0010295	Aplasia/Hypoplasia of the tongue
84314	TMEM107	HP:0008053	Aplasia/Hypoplasia of the iris
84314	TMEM107	HP:0000278	Retrognathia
84314	TMEM107	HP:0000293	Full cheeks
84314	TMEM107	HP:0000238	Hydrocephalus
84314	TMEM107	HP:0000252	Microcephaly
84314	TMEM107	HP:0000221	Furrowed tongue
84314	TMEM107	HP:0001562	Oligohydramnios
84314	TMEM107	HP:0006487	Bowing of the long bones
84314	TMEM107	HP:0001696	Situs inversus totalis
84314	TMEM107	HP:0000369	Low-set ears
84314	TMEM107	HP:0000368	Low-set, posteriorly rotated ears
84314	TMEM107	HP:0000340	Sloping forehead
84314	TMEM107	HP:0000347	Micrognathia
84314	TMEM107	HP:0000316	Hypertelorism
84314	TMEM107	HP:0001737	Pancreatic cysts
84314	TMEM107	HP:0005280	Depressed nasal bridge
84314	TMEM107	HP:0000482	Microcornea
84314	TMEM107	HP:0000488	Retinopathy
84314	TMEM107	HP:0000457	Depressed nasal ridge
84314	TMEM107	HP:0001746	Asplenia
84314	TMEM107	HP:0001747	Accessory spleen
84314	TMEM107	HP:0006706	Cystic liver disease
84314	TMEM107	HP:0000518	Cataract
84314	TMEM107	HP:0000528	Anophthalmia
84314	TMEM107	HP:0000508	Ptosis
84314	TMEM107	HP:0001830	Postaxial foot polydactyly
84314	TMEM107	HP:0000568	Microphthalmia
84314	TMEM107	HP:0000532	Abnormal chorioretinal morphology
84314	TMEM107	HP:0001883	Talipes
84317	CCDC115	HP:0001290	Generalized hypotonia
84317	CCDC115	HP:0001250	Seizure
84317	CCDC115	HP:0001263	Global developmental delay
84317	CCDC115	HP:0001399	Hepatic failure
84317	CCDC115	HP:0001394	Cirrhosis
84317	CCDC115	HP:0025321	Copper accumulation in liver
84317	CCDC115	HP:0000007	Autosomal recessive inheritance
84317	CCDC115	HP:0002611	Cholestatic liver disease
84317	CCDC115	HP:0001433	Hepatosplenomegaly
84317	CCDC115	HP:0003593	Infantile onset
84317	CCDC115	HP:0002240	Hepatomegaly
84317	CCDC115	HP:0010639	Elevated alkaline phosphatase of bone origin
84317	CCDC115	HP:0010837	Decreased circulating ceruloplasmin concentration
84317	CCDC115	HP:0001999	Abnormal facial shape
84317	CCDC115	HP:0003124	Hypercholesterolemia
84317	CCDC115	HP:0003141	Increased LDL cholesterol concentration
84317	CCDC115	HP:0003236	Elevated circulating creatine kinase concentration
84317	CCDC115	HP:0003202	Skeletal muscle atrophy
84317	CCDC115	HP:0000276	Long face
84317	CCDC115	HP:0006579	Prolonged neonatal jaundice
84317	CCDC115	HP:0002910	Elevated hepatic transaminase
84317	CCDC115	HP:0012345	Abnormal glycosylation
84317	CCDC115	HP:0000494	Downslanted palpebral fissures
84317	CCDC115	HP:0001744	Splenomegaly
84317	CCDC115	HP:0000508	Ptosis
84334	COA8	HP:0002490	Increased CSF lactate
84334	COA8	HP:0008619	Bilateral sensorineural hearing impairment
84334	COA8	HP:0007256	Abnormal pyramidal sign
84334	COA8	HP:0001290	Generalized hypotonia
84334	COA8	HP:0001270	Motor delay
84334	COA8	HP:0001288	Gait disturbance
84334	COA8	HP:0001285	Spastic tetraparesis
84334	COA8	HP:0001250	Seizure
84334	COA8	HP:0001251	Ataxia
84334	COA8	HP:0001249	Intellectual disability
84334	COA8	HP:0001260	Dysarthria
84334	COA8	HP:0001263	Global developmental delay
84334	COA8	HP:0001262	Excessive daytime somnolence
84334	COA8	HP:0000093	Proteinuria
84334	COA8	HP:0000007	Autosomal recessive inheritance
84334	COA8	HP:0000124	Renal tubular dysfunction
84334	COA8	HP:0001410	Decreased liver function
84334	COA8	HP:0002747	Respiratory insufficiency due to muscle weakness
84334	COA8	HP:0003355	Aminoaciduria
84334	COA8	HP:0002013	Vomiting
84334	COA8	HP:0003324	Generalized muscle weakness
84334	COA8	HP:0040291	Skeletal muscle steatosis
84334	COA8	HP:0002240	Hepatomegaly
84334	COA8	HP:0008347	Decreased activity of mitochondrial complex IV
84334	COA8	HP:0033369	Cavitating leukodystrophy
84334	COA8	HP:0003688	Cytochrome C oxidase-negative muscle fibers
84334	COA8	HP:0002376	Developmental regression
84334	COA8	HP:0007141	Sensorimotor neuropathy
84334	COA8	HP:0007133	Progressive peripheral neuropathy
84334	COA8	HP:0000648	Optic atrophy
84334	COA8	HP:0001903	Anemia
84334	COA8	HP:0001994	Renal Fanconi syndrome
84334	COA8	HP:0006980	Progressive leukoencephalopathy
84334	COA8	HP:0003076	Glycosuria
84334	COA8	HP:0000750	Delayed speech and language development
84334	COA8	HP:0011463	Childhood onset
84334	COA8	HP:0003109	Hyperphosphaturia
84334	COA8	HP:0003128	Lactic acidosis
84334	COA8	HP:0002875	Exertional dyspnea
84334	COA8	HP:0001508	Failure to thrive
84334	COA8	HP:0006555	Diffuse hepatic steatosis
84334	COA8	HP:0030195	Fatigable weakness of swallowing muscles
84334	COA8	HP:0001639	Hypertrophic cardiomyopathy
84334	COA8	HP:0000508	Ptosis
84334	COA8	HP:0000580	Pigmentary retinopathy
84340	GFM2	HP:0002490	Increased CSF lactate
84340	GFM2	HP:0007321	Deep white matter hypodensities
84340	GFM2	HP:0009879	Simplified gyral pattern
84340	GFM2	HP:0002421	Poor head control
84340	GFM2	HP:0001272	Cerebellar atrophy
84340	GFM2	HP:0001273	Abnormal corpus callosum morphology
84340	GFM2	HP:0001250	Seizure
84340	GFM2	HP:0001260	Dysarthria
84340	GFM2	HP:0001263	Global developmental delay
84340	GFM2	HP:0001257	Spasticity
84340	GFM2	HP:0008763	No social interaction
84340	GFM2	HP:0007371	Corpus callosum atrophy
84340	GFM2	HP:0007366	Atrophy/Degeneration affecting the brainstem
84340	GFM2	HP:0002521	Hypsarrhythmia
84340	GFM2	HP:0002509	Limb hypertonia
84340	GFM2	HP:0002505	Loss of ambulation
84340	GFM2	HP:0002500	Abnormal cerebral white matter morphology
84340	GFM2	HP:0003819	Death in childhood
84340	GFM2	HP:0001371	Flexion contracture
84340	GFM2	HP:0001347	Hyperreflexia
84340	GFM2	HP:0000028	Cryptorchidism
84340	GFM2	HP:0008872	Feeding difficulties in infancy
84340	GFM2	HP:0001332	Dystonia
84340	GFM2	HP:0001324	Muscle weakness
84340	GFM2	HP:0001344	Absent speech
84340	GFM2	HP:0000007	Autosomal recessive inheritance
84340	GFM2	HP:0001302	Pachygyria
84340	GFM2	HP:0002650	Scoliosis
84340	GFM2	HP:0001321	Cerebellar hypoplasia
84340	GFM2	HP:0001317	Abnormal cerebellum morphology
84340	GFM2	HP:0000194	Open mouth
84340	GFM2	HP:0002013	Vomiting
84340	GFM2	HP:0003394	Muscle spasm
84340	GFM2	HP:0002061	Lower limb spasticity
84340	GFM2	HP:0002079	Hypoplasia of the corpus callosum
84340	GFM2	HP:0002058	Myopathic facies
84340	GFM2	HP:0002059	Cerebral atrophy
84340	GFM2	HP:0003487	Babinski sign
84340	GFM2	HP:0002151	Increased serum lactate
84340	GFM2	HP:0002119	Ventriculomegaly
84340	GFM2	HP:0011924	Decreased activity of mitochondrial complex III
84340	GFM2	HP:0003577	Congenital onset
84340	GFM2	HP:0002205	Recurrent respiratory infections
84340	GFM2	HP:0008347	Decreased activity of mitochondrial complex IV
84340	GFM2	HP:0011968	Feeding difficulties
84340	GFM2	HP:0002376	Developmental regression
84340	GFM2	HP:0002353	EEG abnormality
84340	GFM2	HP:0100651	Type I diabetes mellitus
84340	GFM2	HP:0002307	Drooling
84340	GFM2	HP:0009062	Infantile axial hypotonia
84340	GFM2	HP:0011344	Severe global developmental delay
84340	GFM2	HP:0001998	Neonatal hypoglycemia
84340	GFM2	HP:0031959	Leg dystonia
84340	GFM2	HP:0006956	Lateral ventricle dilatation
84340	GFM2	HP:0004305	Involuntary movements
84340	GFM2	HP:0000762	Decreased nerve conduction velocity
84340	GFM2	HP:0000750	Delayed speech and language development
84340	GFM2	HP:0012707	Elevated brain lactate level by MRS
84340	GFM2	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
84340	GFM2	HP:0011470	Nasogastric tube feeding in infancy
84340	GFM2	HP:0011448	Ankle clonus
84340	GFM2	HP:0005745	Congenital foot contractures
84340	GFM2	HP:0000817	Reduced eye contact
84340	GFM2	HP:0030890	Hyperintensity of cerebral white matter on MRI
84340	GFM2	HP:0034392	Joint contracture
84340	GFM2	HP:0002803	Congenital contracture
84340	GFM2	HP:0002804	Arthrogryposis multiplex congenita
84340	GFM2	HP:0000252	Microcephaly
84340	GFM2	HP:0030051	Tip-toe gait
84340	GFM2	HP:0001511	Intrauterine growth retardation
84340	GFM2	HP:0012379	Abnormal circulating enzyme concentration or activity
84340	GFM2	HP:0001688	Sinus bradycardia
84340	GFM2	HP:0001662	Bradycardia
84340	GFM2	HP:0012428	Prominent calcaneus
84340	GFM2	HP:0000543	Optic disc pallor
84342	COG8	HP:0002465	Poor speech
84342	COG8	HP:0001137	Alternating esotropia
84342	COG8	HP:0007267	Chronic axonal neuropathy
84342	COG8	HP:0002421	Poor head control
84342	COG8	HP:0032220	Interface hepatitis
84342	COG8	HP:0001298	Encephalopathy
84342	COG8	HP:0001272	Cerebellar atrophy
84342	COG8	HP:0001250	Seizure
84342	COG8	HP:0001252	Hypotonia
84342	COG8	HP:0001251	Ataxia
84342	COG8	HP:0001249	Intellectual disability
84342	COG8	HP:0001263	Global developmental delay
84342	COG8	HP:0007420	Spontaneous hematomas
84342	COG8	HP:0007366	Atrophy/Degeneration affecting the brainstem
84342	COG8	HP:0001344	Absent speech
84342	COG8	HP:0000007	Autosomal recessive inheritance
84342	COG8	HP:0001336	Myoclonus
84342	COG8	HP:0002650	Scoliosis
84342	COG8	HP:0008947	Infantile muscular hypotonia
84342	COG8	HP:0008115	Clinodactyly of the 3rd toe
84342	COG8	HP:0008150	Elevated serum transaminases during infections
84342	COG8	HP:0008151	Prolonged prothrombin time
84342	COG8	HP:0002119	Ventriculomegaly
84342	COG8	HP:0002133	Status epilepticus
84342	COG8	HP:0011918	Clinodactyly of the 4th toe
84342	COG8	HP:0002243	Protein-losing enteropathy
84342	COG8	HP:0010665	Bilateral coxa valga
84342	COG8	HP:0002376	Developmental regression
84342	COG8	HP:0025045	Abnormal brain lactate level by MRS
84342	COG8	HP:0006846	Acute encephalopathy
84342	COG8	HP:0001943	Hypoglycemia
84342	COG8	HP:0011344	Severe global developmental delay
84342	COG8	HP:0031956	Elevated circulating aspartate aminotransferase concentration
84342	COG8	HP:0040019	Finger clinodactyly
84342	COG8	HP:0003236	Elevated circulating creatine kinase concentration
84342	COG8	HP:0003202	Skeletal muscle atrophy
84342	COG8	HP:0000286	Epicanthus
84342	COG8	HP:0000253	Progressive microcephaly
84342	COG8	HP:0000252	Microcephaly
84342	COG8	HP:0001531	Failure to thrive in infancy
84342	COG8	HP:0001508	Failure to thrive
84342	COG8	HP:0002910	Elevated hepatic transaminase
84342	COG8	HP:0000347	Micrognathia
84342	COG8	HP:0012301	Type II transferrin isoform profile
84342	COG8	HP:0005280	Depressed nasal bridge
84342	COG8	HP:0001762	Talipes equinovarus
84342	COG8	HP:0012537	Food intolerance
84342	COG8	HP:0000565	Esotropia
84343	HPS3	HP:0000007	Autosomal recessive inheritance
84343	HPS3	HP:0007663	Reduced visual acuity
84343	HPS3	HP:0003540	Impaired platelet aggregation
84343	HPS3	HP:0001010	Hypopigmentation of the skin
84343	HPS3	HP:0001022	Albinism
84343	HPS3	HP:0003621	Juvenile onset
84343	HPS3	HP:0005599	Hypopigmentation of hair
84343	HPS3	HP:0000639	Nystagmus
84343	HPS3	HP:0000666	Horizontal nystagmus
84343	HPS3	HP:0006934	Congenital nystagmus
84343	HPS3	HP:0004406	Spontaneous, recurrent epistaxis
84343	HPS3	HP:0000978	Bruising susceptibility
84343	HPS3	HP:0000225	Gingival bleeding
84343	HPS3	HP:0000505	Visual impairment
84343	HPS3	HP:0001892	Abnormal bleeding
84343	HPS3	HP:0000565	Esotropia
84343	HPS3	HP:0012530	Abnormal number of dense granules
84433	CARD11	HP:0410299	Decreased specific antibody response to polysaccharide vaccine
84433	CARD11	HP:0000007	Autosomal recessive inheritance
84433	CARD11	HP:0000006	Autosomal dominant inheritance
84433	CARD11	HP:0500093	Food allergy
84433	CARD11	HP:0002719	Recurrent infections
84433	CARD11	HP:0002720	Decreased circulating IgA level
84433	CARD11	HP:0002721	Immunodeficiency
84433	CARD11	HP:0002028	Chronic diarrhea
84433	CARD11	HP:0002099	Asthma
84433	CARD11	HP:0002090	Pneumonia
84433	CARD11	HP:0002110	Bronchiectasis
84433	CARD11	HP:0003593	Infantile onset
84433	CARD11	HP:0002205	Recurrent respiratory infections
84433	CARD11	HP:0001047	Atopic dermatitis
84433	CARD11	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells
84433	CARD11	HP:0020102	Pneumocystis jirovecii pneumonia
84433	CARD11	HP:0032185	Disseminated molluscum contagiosum
84433	CARD11	HP:0031813	Colonic eosinophilia
84433	CARD11	HP:0004313	Decreased circulating antibody level
84433	CARD11	HP:0004432	Agammaglobulinemia
84433	CARD11	HP:0003212	Increased circulating IgE level
84433	CARD11	HP:0100279	Ulcerative colitis
84433	CARD11	HP:0031402	Reduced antigen-specific T cell proliferation
84433	CARD11	HP:0002850	Decreased circulating total IgM
84433	CARD11	HP:0012312	Monocytopenia
84433	CARD11	HP:0001744	Splenomegaly
84433	CARD11	HP:0005404	Increased B cell count
84433	CARD11	HP:0031692	Severe cytomegalovirus infection
84433	CARD11	HP:0001880	Eosinophilia
84464	SLX4	HP:0001172	Abnormal thumb morphology
84464	SLX4	HP:0001199	Triphalangeal thumb
84464	SLX4	HP:0008572	External ear malformation
84464	SLX4	HP:0002414	Spina bifida
84464	SLX4	HP:0001249	Intellectual disability
84464	SLX4	HP:0001263	Global developmental delay
84464	SLX4	HP:0002575	Tracheoesophageal fistula
84464	SLX4	HP:0006101	Finger syndactyly
84464	SLX4	HP:0007400	Irregular hyperpigmentation
84464	SLX4	HP:0100867	Duodenal stenosis
84464	SLX4	HP:0008678	Renal hypoplasia/aplasia
84464	SLX4	HP:0003828	Variable expressivity
84464	SLX4	HP:0000083	Renal insufficiency
84464	SLX4	HP:0000085	Horseshoe kidney
84464	SLX4	HP:0001392	Abnormality of the liver
84464	SLX4	HP:0000079	Abnormality of the urinary system
84464	SLX4	HP:0000072	Hydroureter
84464	SLX4	HP:0012041	Decreased fertility in males
84464	SLX4	HP:0000047	Hypospadias
84464	SLX4	HP:0001347	Hyperreflexia
84464	SLX4	HP:0000035	Abnormal testis morphology
84464	SLX4	HP:0000028	Cryptorchidism
84464	SLX4	HP:0000027	Azoospermia
84464	SLX4	HP:0007565	Multiple cafe-au-lait spots
84464	SLX4	HP:0002664	Neoplasm
84464	SLX4	HP:0000010	Recurrent urinary tract infections
84464	SLX4	HP:0000007	Autosomal recessive inheritance
84464	SLX4	HP:0002650	Scoliosis
84464	SLX4	HP:0000175	Cleft palate
84464	SLX4	HP:0000135	Hypogonadism
84464	SLX4	HP:0006265	Aplasia/Hypoplasia of fingers
84464	SLX4	HP:0000130	Abnormality of the uterus
84464	SLX4	HP:0000125	Pelvic kidney
84464	SLX4	HP:0002023	Anal atresia
84464	SLX4	HP:0002007	Frontal bossing
84464	SLX4	HP:0100542	Abnormal localization of kidney
84464	SLX4	HP:0100587	Abnormal preputium morphology
84464	SLX4	HP:0010469	Absent testis
84464	SLX4	HP:0002119	Ventriculomegaly
84464	SLX4	HP:0002245	Meckel diverticulum
84464	SLX4	HP:0002251	Aganglionic megacolon
84464	SLX4	HP:0100760	Clubbing of toes
84464	SLX4	HP:0001053	Hypopigmented skin patches
84464	SLX4	HP:0001045	Vitiligo
84464	SLX4	HP:0001000	Abnormality of skin pigmentation
84464	SLX4	HP:0009777	Absent thumb
84464	SLX4	HP:0009778	Short thumb
84464	SLX4	HP:0004209	Clinodactyly of the 5th finger
84464	SLX4	HP:0005522	Pyridoxine-responsive sideroblastic anemia
84464	SLX4	HP:0006824	Cranial nerve paralysis
84464	SLX4	HP:0000639	Nystagmus
84464	SLX4	HP:0001903	Anemia
84464	SLX4	HP:0012639	Abnormal nervous system morphology
84464	SLX4	HP:0004322	Short stature
84464	SLX4	HP:0003022	Hypoplasia of the ulna
84464	SLX4	HP:0004349	Reduced bone mineral density
84464	SLX4	HP:0012745	Short palpebral fissure
84464	SLX4	HP:0100026	Arteriovenous malformation
84464	SLX4	HP:0000864	Abnormality of the hypothalamus-pituitary axis
84464	SLX4	HP:0000813	Bicornuate uterus
84464	SLX4	HP:0010293	Aplasia/Hypoplasia of the uvula
84464	SLX4	HP:0040071	Abnormal morphology of ulna
84464	SLX4	HP:0003220	Abnormality of chromosome stability
84464	SLX4	HP:0000957	Cafe-au-lait spot
84464	SLX4	HP:0008053	Aplasia/Hypoplasia of the iris
84464	SLX4	HP:0000286	Epicanthus
84464	SLX4	HP:0000268	Dolichocephaly
84464	SLX4	HP:0002817	Abnormality of the upper limb
84464	SLX4	HP:0002827	Hip dislocation
84464	SLX4	HP:0002823	Abnormality of femur morphology
84464	SLX4	HP:0000238	Hydrocephalus
84464	SLX4	HP:0000252	Microcephaly
84464	SLX4	HP:0012210	Abnormal renal morphology
84464	SLX4	HP:0000218	High palate
84464	SLX4	HP:0001562	Oligohydramnios
84464	SLX4	HP:0002860	Squamous cell carcinoma
84464	SLX4	HP:0001537	Umbilical hernia
84464	SLX4	HP:0002863	Myelodysplasia
84464	SLX4	HP:0001511	Intrauterine growth retardation
84464	SLX4	HP:0001510	Growth delay
84464	SLX4	HP:0006501	Aplasia/Hypoplasia of the radius
84464	SLX4	HP:0007874	Almond-shaped palpebral fissure
84464	SLX4	HP:0000365	Hearing impairment
84464	SLX4	HP:0000364	Hearing abnormality
84464	SLX4	HP:0001671	Abnormal cardiac septum morphology
84464	SLX4	HP:0000340	Sloping forehead
84464	SLX4	HP:0001679	Abnormal aortic morphology
84464	SLX4	HP:0000347	Micrognathia
84464	SLX4	HP:0000316	Hypertelorism
84464	SLX4	HP:0001646	Abnormal aortic valve morphology
84464	SLX4	HP:0001643	Patent ductus arteriosus
84464	SLX4	HP:0002984	Hypoplasia of the radius
84464	SLX4	HP:0000324	Facial asymmetry
84464	SLX4	HP:0001639	Hypertrophic cardiomyopathy
84464	SLX4	HP:0001636	Tetralogy of Fallot
84464	SLX4	HP:0001631	Atrial septal defect
84464	SLX4	HP:0005344	Abnormal carotid artery morphology
84464	SLX4	HP:0000483	Astigmatism
84464	SLX4	HP:0000486	Strabismus
84464	SLX4	HP:0000478	Abnormality of the eye
84464	SLX4	HP:0000492	Abnormal eyelid morphology
84464	SLX4	HP:0001770	Toe syndactyly
84464	SLX4	HP:0001763	Pes planus
84464	SLX4	HP:0000453	Choanal atresia
84464	SLX4	HP:0000414	Bulbous nose
84464	SLX4	HP:0001760	Abnormal foot morphology
84464	SLX4	HP:0000518	Cataract
84464	SLX4	HP:0000520	Proptosis
84464	SLX4	HP:0001824	Weight loss
84464	SLX4	HP:0000508	Ptosis
84464	SLX4	HP:0000505	Visual impairment
84464	SLX4	HP:0000504	Abnormality of vision
84464	SLX4	HP:0000582	Upslanted palpebral fissure
84464	SLX4	HP:0000581	Blepharophimosis
84464	SLX4	HP:0000568	Microphthalmia
84464	SLX4	HP:0001871	Abnormality of blood and blood-forming tissues
84464	SLX4	HP:0001882	Leukopenia
84464	SLX4	HP:0001873	Thrombocytopenia
84464	SLX4	HP:0001876	Pancytopenia
84466	MEGF10	HP:0002421	Poor head control
84466	MEGF10	HP:0003713	Muscle fiber necrosis
84466	MEGF10	HP:0001270	Motor delay
84466	MEGF10	HP:0001284	Areflexia
84466	MEGF10	HP:0001250	Seizure
84466	MEGF10	HP:0001252	Hypotonia
84466	MEGF10	HP:0001265	Hyporeflexia
84466	MEGF10	HP:0000007	Autosomal recessive inheritance
84466	MEGF10	HP:0001308	Tongue fasciculations
84466	MEGF10	HP:0002650	Scoliosis
84466	MEGF10	HP:0001319	Neonatal hypotonia
84466	MEGF10	HP:0000175	Cleft palate
84466	MEGF10	HP:0002020	Gastroesophageal reflux
84466	MEGF10	HP:0002015	Dysphagia
84466	MEGF10	HP:0002098	Respiratory distress
84466	MEGF10	HP:0002093	Respiratory insufficiency
84466	MEGF10	HP:0002091	Restrictive ventilatory defect
84466	MEGF10	HP:0003458	EMG: myopathic abnormalities
84466	MEGF10	HP:0100490	Camptodactyly of finger
84466	MEGF10	HP:0003577	Congenital onset
84466	MEGF10	HP:0003557	Increased variability in muscle fiber diameter
84466	MEGF10	HP:0010628	Facial palsy
84466	MEGF10	HP:0009046	Difficulty running
84466	MEGF10	HP:0000767	Pectus excavatum
84466	MEGF10	HP:0011461	Fetal onset
84466	MEGF10	HP:0009110	Diaphragmatic eventration
84466	MEGF10	HP:0009113	Diaphragmatic weakness
84466	MEGF10	HP:0003236	Elevated circulating creatine kinase concentration
84466	MEGF10	HP:0040131	Abnormal motor nerve conduction velocity
84466	MEGF10	HP:0002878	Respiratory failure
84466	MEGF10	HP:0000218	High palate
84466	MEGF10	HP:0001558	Decreased fetal movement
84466	MEGF10	HP:0001508	Failure to thrive
84466	MEGF10	HP:0006597	Diaphragmatic paralysis
84466	MEGF10	HP:0001762	Talipes equinovarus
84504	NKX6-2	HP:0002451	Limb dystonia
84504	NKX6-2	HP:0007256	Abnormal pyramidal sign
84504	NKX6-2	HP:0002415	Leukodystrophy
84504	NKX6-2	HP:0001290	Generalized hypotonia
84504	NKX6-2	HP:0001272	Cerebellar atrophy
84504	NKX6-2	HP:0001270	Motor delay
84504	NKX6-2	HP:0002599	Head titubation
84504	NKX6-2	HP:0001250	Seizure
84504	NKX6-2	HP:0001252	Hypotonia
84504	NKX6-2	HP:0001251	Ataxia
84504	NKX6-2	HP:0001249	Intellectual disability
84504	NKX6-2	HP:0001260	Dysarthria
84504	NKX6-2	HP:0001263	Global developmental delay
84504	NKX6-2	HP:0001257	Spasticity
84504	NKX6-2	HP:0001347	Hyperreflexia
84504	NKX6-2	HP:0001332	Dystonia
84504	NKX6-2	HP:0000007	Autosomal recessive inheritance
84504	NKX6-2	HP:0002650	Scoliosis
84504	NKX6-2	HP:0100543	Cognitive impairment
84504	NKX6-2	HP:0002078	Truncal ataxia
84504	NKX6-2	HP:0002079	Hypoplasia of the corpus callosum
84504	NKX6-2	HP:0002070	Limb ataxia
84504	NKX6-2	HP:0002059	Cerebral atrophy
84504	NKX6-2	HP:0003429	CNS hypomyelination
84504	NKX6-2	HP:0002191	Progressive spasticity
84504	NKX6-2	HP:0003593	Infantile onset
84504	NKX6-2	HP:0003676	Progressive
84504	NKX6-2	HP:0001007	Hirsutism
84504	NKX6-2	HP:0002355	Difficulty walking
84504	NKX6-2	HP:0000639	Nystagmus
84504	NKX6-2	HP:0011344	Severe global developmental delay
84504	NKX6-2	HP:0011463	Childhood onset
84504	NKX6-2	HP:0030890	Hyperintensity of cerebral white matter on MRI
84504	NKX6-2	HP:0007704	Paroxysmal involuntary eye movements
84504	NKX6-2	HP:0007941	Limited extraocular movements
84504	NKX6-2	HP:0000486	Strabismus
84504	NKX6-2	HP:0000473	Torticollis
84504	NKX6-2	HP:0000571	Hypometric saccades
84504	NKX6-2	HP:0012534	Dysesthesia
84515	MCM8	HP:0008734	Decreased testicular size
84515	MCM8	HP:0008724	Hypoplasia of the ovary
84515	MCM8	HP:0000027	Azoospermia
84515	MCM8	HP:0000007	Autosomal recessive inheritance
84515	MCM8	HP:0008232	Elevated circulating follicle stimulating hormone level
84515	MCM8	HP:0008209	Premature ovarian insufficiency
84515	MCM8	HP:0011969	Elevated circulating luteinizing hormone level
84515	MCM8	HP:0000786	Primary amenorrhea
84515	MCM8	HP:0000821	Hypothyroidism
84520	GON7	HP:0003774	Stage 5 chronic kidney disease
84520	GON7	HP:0001272	Cerebellar atrophy
84520	GON7	HP:0001266	Choreoathetosis
84520	GON7	HP:0001263	Global developmental delay
84520	GON7	HP:0000097	Focal segmental glomerulosclerosis
84520	GON7	HP:0033725	Thin corpus callosum
84520	GON7	HP:0000007	Autosomal recessive inheritance
84520	GON7	HP:0002020	Gastroesophageal reflux
84520	GON7	HP:0002036	Hiatus hernia
84520	GON7	HP:0002120	Cerebral cortical atrophy
84520	GON7	HP:0002119	Ventriculomegaly
84520	GON7	HP:0003593	Infantile onset
84520	GON7	HP:0002208	Coarse hair
84520	GON7	HP:0001967	Diffuse mesangial sclerosis
84520	GON7	HP:0000601	Hypotelorism
84520	GON7	HP:0011463	Childhood onset
84520	GON7	HP:0000252	Microcephaly
84520	GON7	HP:0007874	Almond-shaped palpebral fissure
84520	GON7	HP:0000369	Low-set ears
84520	GON7	HP:0000341	Narrow forehead
84520	GON7	HP:0000316	Hypertelorism
84520	GON7	HP:0000400	Macrotia
84520	GON7	HP:0005484	Secondary microcephaly
84522	JAGN1	HP:0033606	Bone marrow maturation arrest
84522	JAGN1	HP:0000007	Autosomal recessive inheritance
84522	JAGN1	HP:0002718	Recurrent bacterial infections
84522	JAGN1	HP:0003593	Infantile onset
84522	JAGN1	HP:0002205	Recurrent respiratory infections
84522	JAGN1	HP:0004322	Short stature
84522	JAGN1	HP:0001508	Failure to thrive
84522	JAGN1	HP:0000403	Recurrent otitis media
84522	JAGN1	HP:0001875	Neutropenia
84529	CDIN1	HP:0001159	Syndactyly
84529	CDIN1	HP:0010972	Anemia of inadequate production
84529	CDIN1	HP:0000007	Autosomal recessive inheritance
84529	CDIN1	HP:0012132	Erythroid hyperplasia
84529	CDIN1	HP:0002240	Hepatomegaly
84529	CDIN1	HP:0001923	Reticulocytosis
84529	CDIN1	HP:0001903	Anemia
84529	CDIN1	HP:0004322	Short stature
84529	CDIN1	HP:0004447	Poikilocytosis
84529	CDIN1	HP:0034278	Multinucleated erythroblast
84529	CDIN1	HP:0000980	Pallor
84529	CDIN1	HP:0000952	Jaundice
84529	CDIN1	HP:0001510	Growth delay
84529	CDIN1	HP:0001792	Small nail
84529	CDIN1	HP:0001744	Splenomegaly
84529	CDIN1	HP:0011273	Anisocytosis
84548	TMEM185A	HP:0000118	Phenotypic abnormality
84548	TMEM185A	HP:0003564	Folate-dependent fragile site at Xq28
84548	TMEM185A	HP:0012758	Neurodevelopmental delay
84570	COL25A1	HP:0009921	Duane anomaly
84570	COL25A1	HP:0001284	Areflexia
84570	COL25A1	HP:0001250	Seizure
84570	COL25A1	HP:0001239	Wrist flexion contracture
84570	COL25A1	HP:0410263	Brain imaging abnormality
84570	COL25A1	HP:0007340	Lower limb muscle weakness
84570	COL25A1	HP:0008807	Acetabular dysplasia
84570	COL25A1	HP:0001371	Flexion contracture
84570	COL25A1	HP:0001357	Plagiocephaly
84570	COL25A1	HP:0007544	Piebaldism
84570	COL25A1	HP:0007477	Abnormal dermatoglyphics
84570	COL25A1	HP:0000007	Autosomal recessive inheritance
84570	COL25A1	HP:0002650	Scoliosis
84570	COL25A1	HP:0001491	Congenital fibrosis of extraocular muscles
84570	COL25A1	HP:0001477	Compensatory chin elevation
84570	COL25A1	HP:0007687	Unilateral ptosis
84570	COL25A1	HP:0007663	Reduced visual acuity
84570	COL25A1	HP:0002747	Respiratory insufficiency due to muscle weakness
84570	COL25A1	HP:0002003	Large forehead
84570	COL25A1	HP:0002098	Respiratory distress
84570	COL25A1	HP:0002058	Myopathic facies
84570	COL25A1	HP:0008110	Equinovarus deformity
84570	COL25A1	HP:0008180	Mildly elevated creatine kinase
84570	COL25A1	HP:0003484	Upper limb muscle weakness
84570	COL25A1	HP:0003444	EMG: chronic denervation signs
84570	COL25A1	HP:0008209	Premature ovarian insufficiency
84570	COL25A1	HP:0003577	Congenital onset
84570	COL25A1	HP:0011968	Feeding difficulties
84570	COL25A1	HP:0002380	Fasciculations
84570	COL25A1	HP:0010781	Skin dimple
84570	COL25A1	HP:0007188	Congenital facial diplegia
84570	COL25A1	HP:0006837	Congenital Horner syndrome
84570	COL25A1	HP:0000646	Amblyopia
84570	COL25A1	HP:0000602	Ophthalmoplegia
84570	COL25A1	HP:0009058	Increased muscle lipid content
84570	COL25A1	HP:0001999	Abnormal facial shape
84570	COL25A1	HP:0012758	Neurodevelopmental delay
84570	COL25A1	HP:0030799	Scaphocephaly
84570	COL25A1	HP:0012803	Anisometropia
84570	COL25A1	HP:0003202	Skeletal muscle atrophy
84570	COL25A1	HP:0003273	Hip contracture
84570	COL25A1	HP:0000957	Cafe-au-lait spot
84570	COL25A1	HP:0000970	Anhidrosis
84570	COL25A1	HP:0006466	Ankle flexion contracture
84570	COL25A1	HP:0007728	Congenital miosis
84570	COL25A1	HP:0002827	Hip dislocation
84570	COL25A1	HP:0006380	Knee flexion contracture
84570	COL25A1	HP:0001562	Oligohydramnios
84570	COL25A1	HP:0001558	Decreased fetal movement
84570	COL25A1	HP:0000347	Micrognathia
84570	COL25A1	HP:0000316	Hypertelorism
84570	COL25A1	HP:0002987	Elbow flexion contracture
84570	COL25A1	HP:0001627	Abnormal heart morphology
84570	COL25A1	HP:0001623	Breech presentation
84570	COL25A1	HP:0007946	Unilateral narrow palpebral fissure
84570	COL25A1	HP:0007911	Congenital bilateral ptosis
84570	COL25A1	HP:0000483	Astigmatism
84570	COL25A1	HP:0000486	Strabismus
84570	COL25A1	HP:0005487	Prominent metopic ridge
84570	COL25A1	HP:0000527	Long eyelashes
84570	COL25A1	HP:0001838	Rocker bottom foot
84570	COL25A1	HP:0000506	Telecanthus
84570	COL25A1	HP:0000508	Ptosis
84570	COL25A1	HP:0000540	Hypermetropia
84570	COL25A1	HP:0000539	Abnormality of refraction
84570	COL25A1	HP:0000537	Epicanthus inversus
84570	COL25A1	HP:0000545	Myopia
84572	GNPTG	HP:0001155	Abnormality of the hand
84572	GNPTG	HP:0001256	Intellectual disability, mild
84572	GNPTG	HP:0001387	Joint stiffness
84572	GNPTG	HP:0000007	Autosomal recessive inheritance
84572	GNPTG	HP:0002650	Scoliosis
84572	GNPTG	HP:0003333	Increased serum beta-hexosaminidase
84572	GNPTG	HP:0003307	Hyperlordosis
84572	GNPTG	HP:0003370	Flat capital femoral epiphysis
84572	GNPTG	HP:0008155	Mucopolysacchariduria
84572	GNPTG	HP:0003538	Increased iduronate sulfatase level
84572	GNPTG	HP:0004322	Short stature
84572	GNPTG	HP:0000768	Pectus carinatum
84572	GNPTG	HP:0000943	Dysostosis multiplex
84572	GNPTG	HP:0000280	Coarse facial features
84572	GNPTG	HP:0007759	Opacification of the corneal stroma
84572	GNPTG	HP:0002829	Arthralgia
84572	GNPTG	HP:0002808	Kyphosis
84572	GNPTG	HP:0001547	Abnormal rib cage morphology
84572	GNPTG	HP:0002857	Genu valgum
84572	GNPTG	HP:0002869	Flared iliac wing
84572	GNPTG	HP:0001650	Aortic valve stenosis
84572	GNPTG	HP:0001659	Aortic regurgitation
84572	GNPTG	HP:0000470	Short neck
84572	GNPTG	HP:0000545	Myopia
84617	TUBB6	HP:0410263	Brain imaging abnormality
84617	TUBB6	HP:0000006	Autosomal dominant inheritance
84617	TUBB6	HP:0002015	Dysphagia
84617	TUBB6	HP:0003593	Infantile onset
84617	TUBB6	HP:0010628	Facial palsy
84617	TUBB6	HP:0003680	Nonprogressive
84617	TUBB6	HP:0011469	Nasal regurgitation
84617	TUBB6	HP:0000220	Velopharyngeal insufficiency
84617	TUBB6	HP:0000508	Ptosis
84627	ZNF469	HP:0001166	Arachnodactyly
84627	ZNF469	HP:0001131	Corneal dystrophy
84627	ZNF469	HP:0001119	Keratoglobus
84627	ZNF469	HP:0009887	Abnormality of hair pigmentation
84627	ZNF469	HP:0001288	Gait disturbance
84627	ZNF469	HP:0001374	Congenital hip dislocation
84627	ZNF469	HP:0001385	Hip dysplasia
84627	ZNF469	HP:0001388	Joint laxity
84627	ZNF469	HP:0007517	Palmoplantar cutis laxa
84627	ZNF469	HP:0002659	Increased susceptibility to fractures
84627	ZNF469	HP:0000007	Autosomal recessive inheritance
84627	ZNF469	HP:0002650	Scoliosis
84627	ZNF469	HP:0001319	Neonatal hypotonia
84627	ZNF469	HP:0000164	Abnormality of the dentition
84627	ZNF469	HP:0000175	Cleft palate
84627	ZNF469	HP:0003326	Myalgia
84627	ZNF469	HP:0003302	Spondylolisthesis
84627	ZNF469	HP:0005930	Abnormal epiphysis morphology
84627	ZNF469	HP:0100790	Hernia
84627	ZNF469	HP:0002297	Red hair
84627	ZNF469	HP:0200020	Corneal erosion
84627	ZNF469	HP:0100689	Decreased corneal thickness
84627	ZNF469	HP:0005692	Joint hyperflexibility
84627	ZNF469	HP:0000703	Dentinogenesis imperfecta
84627	ZNF469	HP:0000993	Molluscoid pseudotumors
84627	ZNF469	HP:0000978	Bruising susceptibility
84627	ZNF469	HP:0000977	Soft skin
84627	ZNF469	HP:0000974	Hyperextensible skin
84627	ZNF469	HP:0000987	Atypical scarring of skin
84627	ZNF469	HP:0000939	Osteoporosis
84627	ZNF469	HP:0000286	Epicanthus
84627	ZNF469	HP:0000256	Macrocephaly
84627	ZNF469	HP:0001519	Disproportionate tall stature
84627	ZNF469	HP:0012385	Camptodactyly
84627	ZNF469	HP:0000365	Hearing impairment
84627	ZNF469	HP:0011003	High myopia
84627	ZNF469	HP:0001642	Pulmonic stenosis
84627	ZNF469	HP:0001634	Mitral valve prolapse
84627	ZNF469	HP:0000407	Sensorineural hearing impairment
84627	ZNF469	HP:0000405	Conductive hearing impairment
84627	ZNF469	HP:0000481	Abnormal cornea morphology
84627	ZNF469	HP:0001763	Pes planus
84627	ZNF469	HP:0001822	Hallux valgus
84627	ZNF469	HP:0000501	Glaucoma
84627	ZNF469	HP:0000592	Blue sclerae
84627	ZNF469	HP:0000563	Keratoconus
84627	ZNF469	HP:0000559	Corneal scarring
84627	ZNF469	HP:0000572	Visual loss
84627	ZNF469	HP:0000541	Retinal detachment
84627	ZNF469	HP:0000545	Myopia
84628	NTNG2	HP:0003763	Bruxism
84628	NTNG2	HP:0001270	Motor delay
84628	NTNG2	HP:0001250	Seizure
84628	NTNG2	HP:0001249	Intellectual disability
84628	NTNG2	HP:0001263	Global developmental delay
84628	NTNG2	HP:0001257	Spasticity
84628	NTNG2	HP:0002540	Inability to walk
84628	NTNG2	HP:0001324	Muscle weakness
84628	NTNG2	HP:0001344	Absent speech
84628	NTNG2	HP:0000007	Autosomal recessive inheritance
84628	NTNG2	HP:0001337	Tremor
84628	NTNG2	HP:0008947	Infantile muscular hypotonia
84628	NTNG2	HP:0002714	Downturned corners of mouth
84628	NTNG2	HP:0002007	Frontal bossing
84628	NTNG2	HP:0100716	Self-injurious behavior
84628	NTNG2	HP:0002376	Developmental regression
84628	NTNG2	HP:0002353	EEG abnormality
84628	NTNG2	HP:0002307	Drooling
84628	NTNG2	HP:0000639	Nystagmus
84628	NTNG2	HP:0000601	Hypotelorism
84628	NTNG2	HP:0000752	Hyperactivity
84628	NTNG2	HP:0000750	Delayed speech and language development
84628	NTNG2	HP:0000749	Paroxysmal bursts of laughter
84628	NTNG2	HP:0000729	Autistic behavior
84628	NTNG2	HP:0000252	Microcephaly
84628	NTNG2	HP:0000369	Low-set ears
84628	NTNG2	HP:0012444	Brain atrophy
84628	NTNG2	HP:0000565	Esotropia
84634	KISS1R	HP:0003782	Eunuchoid habitus
84634	KISS1R	HP:0008734	Decreased testicular size
84634	KISS1R	HP:0008724	Hypoplasia of the ovary
84634	KISS1R	HP:0000044	Hypogonadotropic hypogonadism
84634	KISS1R	HP:0000054	Micropenis
84634	KISS1R	HP:0000026	Male hypogonadism
84634	KISS1R	HP:0000028	Cryptorchidism
84634	KISS1R	HP:0000027	Azoospermia
84634	KISS1R	HP:0000002	Abnormality of body height
84634	KISS1R	HP:0000013	Hypoplasia of the uterus
84634	KISS1R	HP:0000007	Autosomal recessive inheritance
84634	KISS1R	HP:0000006	Autosomal dominant inheritance
84634	KISS1R	HP:0000164	Abnormality of the dentition
84634	KISS1R	HP:0000175	Cleft palate
84634	KISS1R	HP:0000118	Phenotypic abnormality
84634	KISS1R	HP:0000134	Female hypogonadism
84634	KISS1R	HP:0002761	Generalized joint laxity
84634	KISS1R	HP:0002750	Delayed skeletal maturation
84634	KISS1R	HP:0008197	Absence of pubertal development
84634	KISS1R	HP:0008187	Absence of secondary sex characteristics
84634	KISS1R	HP:0008232	Elevated circulating follicle stimulating hormone level
84634	KISS1R	HP:0008236	Isosexual precocious puberty
84634	KISS1R	HP:0002231	Sparse body hair
84634	KISS1R	HP:0011969	Elevated circulating luteinizing hormone level
84634	KISS1R	HP:0011961	Non-obstructive azoospermia
84634	KISS1R	HP:0008527	Congenital sensorineural hearing impairment
84634	KISS1R	HP:0003621	Juvenile onset
84634	KISS1R	HP:0004322	Short stature
84634	KISS1R	HP:0000802	Impotence
84634	KISS1R	HP:0000771	Gynecomastia
84634	KISS1R	HP:0000739	Anxiety
84634	KISS1R	HP:0000716	Depression
84634	KISS1R	HP:0000786	Primary amenorrhea
84634	KISS1R	HP:0003187	Breast hypoplasia
84634	KISS1R	HP:0000869	Secondary amenorrhea
84634	KISS1R	HP:0000821	Hypothyroidism
84634	KISS1R	HP:0000823	Delayed puberty
84634	KISS1R	HP:0000939	Osteoporosis
84634	KISS1R	HP:0000938	Osteopenia
84634	KISS1R	HP:0040171	Decreased serum testosterone concentration
84634	KISS1R	HP:0030019	Increased female libido
84634	KISS1R	HP:0012385	Camptodactyly
84634	KISS1R	HP:0001608	Abnormality of the voice
84634	KISS1R	HP:0000316	Hypertelorism
84634	KISS1R	HP:0006610	Wide intermamillary distance
84634	KISS1R	HP:0005280	Depressed nasal bridge
84634	KISS1R	HP:0000458	Anosmia
84634	KISS1R	HP:0030344	Decreased circulating luteinizing hormone level
84634	KISS1R	HP:0030341	Decreased circulating follicle stimulating hormone concentration
84660	CCDC62	HP:0000007	Autosomal recessive inheritance
84660	CCDC62	HP:0011462	Young adult onset
84660	CCDC62	HP:0003251	Male infertility
84660	CCDC62	HP:0012205	Globozoospermia
84662	GLIS2	HP:0003774	Stage 5 chronic kidney disease
84662	GLIS2	HP:0000090	Nephronophthisis
84662	GLIS2	HP:0000092	Renal tubular atrophy
84662	GLIS2	HP:0000007	Autosomal recessive inheritance
84665	MYPN	HP:0002483	Bulbar signs
84665	MYPN	HP:0003798	Nemaline bodies
84665	MYPN	HP:0007210	Lower limb amyotrophy
84665	MYPN	HP:0002421	Poor head control
84665	MYPN	HP:0003700	Generalized amyotrophy
84665	MYPN	HP:0001297	Stroke
84665	MYPN	HP:0001290	Generalized hypotonia
84665	MYPN	HP:0001270	Motor delay
84665	MYPN	HP:0001284	Areflexia
84665	MYPN	HP:0001279	Syncope
84665	MYPN	HP:0001265	Hyporeflexia
84665	MYPN	HP:0007340	Lower limb muscle weakness
84665	MYPN	HP:0002515	Waddling gait
84665	MYPN	HP:0003803	Type 1 muscle fiber predominance
84665	MYPN	HP:0001371	Flexion contracture
84665	MYPN	HP:0001349	Facial diplegia
84665	MYPN	HP:0008897	Postnatal growth retardation
84665	MYPN	HP:0001324	Muscle weakness
84665	MYPN	HP:0000007	Autosomal recessive inheritance
84665	MYPN	HP:0000006	Autosomal dominant inheritance
84665	MYPN	HP:0002650	Scoliosis
84665	MYPN	HP:0033755	Increased left ventricular end-diastolic volume
84665	MYPN	HP:0001315	Reduced tendon reflexes
84665	MYPN	HP:0002616	Aortic root aneurysm
84665	MYPN	HP:0031295	Left atrial enlargement
84665	MYPN	HP:0002792	Reduced vital capacity
84665	MYPN	HP:0002747	Respiratory insufficiency due to muscle weakness
84665	MYPN	HP:0003306	Spinal rigidity
84665	MYPN	HP:0002094	Dyspnea
84665	MYPN	HP:0002067	Bradykinesia
84665	MYPN	HP:0002068	Neuromuscular dysphagia
84665	MYPN	HP:0003391	Gowers sign
84665	MYPN	HP:0030950	Pulmonary venous hypertension
84665	MYPN	HP:0003388	Easy fatigability
84665	MYPN	HP:0100578	Lipoatrophy
84665	MYPN	HP:0011705	First degree atrioventricular block
84665	MYPN	HP:0011703	Sinus tachycardia
84665	MYPN	HP:0100598	Pulmonary edema
84665	MYPN	HP:0008180	Mildly elevated creatine kinase
84665	MYPN	HP:0003457	EMG abnormality
84665	MYPN	HP:0003458	EMG: myopathic abnormalities
84665	MYPN	HP:0003596	Middle age onset
84665	MYPN	HP:0002240	Hepatomegaly
84665	MYPN	HP:0003584	Late onset
84665	MYPN	HP:0003552	Muscle stiffness
84665	MYPN	HP:0003551	Difficulty climbing stairs
84665	MYPN	HP:0003546	Exercise intolerance
84665	MYPN	HP:0003557	Increased variability in muscle fiber diameter
84665	MYPN	HP:0002205	Recurrent respiratory infections
84665	MYPN	HP:0007010	Poor fine motor coordination
84665	MYPN	HP:0011968	Feeding difficulties
84665	MYPN	HP:0010628	Facial palsy
84665	MYPN	HP:0003691	Scapular winging
84665	MYPN	HP:0003690	Limb muscle weakness
84665	MYPN	HP:0002359	Frequent falls
84665	MYPN	HP:0002355	Difficulty walking
84665	MYPN	HP:0003677	Slowly progressive
84665	MYPN	HP:0007110	Central hypoventilation
84665	MYPN	HP:0002312	Clumsiness
84665	MYPN	HP:0003621	Juvenile onset
84665	MYPN	HP:0001907	Thromboembolism
84665	MYPN	HP:0009055	Generalized limb muscle atrophy
84665	MYPN	HP:0009058	Increased muscle lipid content
84665	MYPN	HP:0009046	Difficulty running
84665	MYPN	HP:0001989	Fetal akinesia sequence
84665	MYPN	HP:0004303	Abnormal muscle fiber morphology
84665	MYPN	HP:0000767	Pectus excavatum
84665	MYPN	HP:0011463	Childhood onset
84665	MYPN	HP:0011462	Young adult onset
84665	MYPN	HP:0012764	Orthopnea
84665	MYPN	HP:0000774	Narrow chest
84665	MYPN	HP:0003198	Myopathy
84665	MYPN	HP:0030718	Right atrial enlargement
84665	MYPN	HP:0040081	Abnormal circulating creatine kinase concentration
84665	MYPN	HP:0003236	Elevated circulating creatine kinase concentration
84665	MYPN	HP:0000982	Palmoplantar keratoderma
84665	MYPN	HP:0008081	Pes valgus
84665	MYPN	HP:0000275	Narrow face
84665	MYPN	HP:0000276	Long face
84665	MYPN	HP:0005144	Ventricular septal hypertrophy
84665	MYPN	HP:0005115	Supraventricular arrhythmia
84665	MYPN	HP:0005110	Atrial fibrillation
84665	MYPN	HP:0002804	Arthrogryposis multiplex congenita
84665	MYPN	HP:0031329	Interstitial cardiac fibrosis
84665	MYPN	HP:0000218	High palate
84665	MYPN	HP:0001561	Polyhydramnios
84665	MYPN	HP:0001533	Slender build
84665	MYPN	HP:0030051	Tip-toe gait
84665	MYPN	HP:0012398	Peripheral edema
84665	MYPN	HP:0030200	Fatiguable weakness of proximal limb muscles
84665	MYPN	HP:0002938	Lumbar hyperlordosis
84665	MYPN	HP:0030192	Fatigable weakness of bulbar muscles
84665	MYPN	HP:0002943	Thoracic scoliosis
84665	MYPN	HP:0001611	Hypernasal speech
84665	MYPN	HP:0005180	Tricuspid regurgitation
84665	MYPN	HP:0005162	Abnormal left ventricular function
84665	MYPN	HP:0000347	Micrognathia
84665	MYPN	HP:0000316	Hypertelorism
84665	MYPN	HP:0001644	Dilated cardiomyopathy
84665	MYPN	HP:0001653	Mitral regurgitation
84665	MYPN	HP:0001623	Breech presentation
84665	MYPN	HP:0001639	Hypertrophic cardiomyopathy
84665	MYPN	HP:0001635	Congestive heart failure
84665	MYPN	HP:0001638	Cardiomyopathy
84665	MYPN	HP:0001634	Mitral valve prolapse
84665	MYPN	HP:0006673	Reduced systolic function
84665	MYPN	HP:0000407	Sensorineural hearing impairment
84665	MYPN	HP:0001712	Left ventricular hypertrophy
84665	MYPN	HP:0000467	Neck muscle weakness
84665	MYPN	HP:0001763	Pes planus
84665	MYPN	HP:0001762	Talipes equinovarus
84665	MYPN	HP:0001761	Pes cavus
84665	MYPN	HP:0000508	Ptosis
84665	MYPN	HP:0001874	Abnormality of neutrophils
84667	HES7	HP:0002475	Myelomeningocele
84667	HES7	HP:0002435	Meningocele
84667	HES7	HP:0001249	Intellectual disability
84667	HES7	HP:0006101	Finger syndactyly
84667	HES7	HP:0010978	Abnormality of immune system physiology
84667	HES7	HP:0032341	Reduced forced vital capacity
84667	HES7	HP:0032342	Reduced forced expiratory volume in one second
84667	HES7	HP:0000069	Abnormality of the ureter
84667	HES7	HP:0000047	Hypospadias
84667	HES7	HP:0000023	Inguinal hernia
84667	HES7	HP:0000028	Cryptorchidism
84667	HES7	HP:0000011	Neurogenic bladder
84667	HES7	HP:0000008	Abnormal morphology of female internal genitalia
84667	HES7	HP:0000007	Autosomal recessive inheritance
84667	HES7	HP:0002650	Scoliosis
84667	HES7	HP:0000175	Cleft palate
84667	HES7	HP:0002025	Anal stenosis
84667	HES7	HP:0003312	Abnormal form of the vertebral bodies
84667	HES7	HP:0003310	Abnormality of the odontoid process
84667	HES7	HP:0003305	Block vertebrae
84667	HES7	HP:0002093	Respiratory insufficiency
84667	HES7	HP:0002091	Restrictive ventilatory defect
84667	HES7	HP:0100589	Urogenital fistula
84667	HES7	HP:0003422	Vertebral segmentation defect
84667	HES7	HP:0100490	Camptodactyly of finger
84667	HES7	HP:0034566	Aplasia of posterior communicating artery
84667	HES7	HP:0003577	Congenital onset
84667	HES7	HP:0010772	Anomalous pulmonary venous return
84667	HES7	HP:0004322	Short stature
84667	HES7	HP:0030680	Abnormality of cardiovascular system morphology
84667	HES7	HP:0004397	Ectopic anus
84667	HES7	HP:0000772	Abnormal rib morphology
84667	HES7	HP:0000767	Pectus excavatum
84667	HES7	HP:0000776	Congenital diaphragmatic hernia
84667	HES7	HP:0000921	Missing ribs
84667	HES7	HP:0000902	Rib fusion
84667	HES7	HP:0003298	Spina bifida occulta
84667	HES7	HP:0010306	Short thorax
84667	HES7	HP:0001591	Bell-shaped thorax
84667	HES7	HP:0000256	Macrocephaly
84667	HES7	HP:0000269	Prominent occiput
84667	HES7	HP:0005108	Abnormal intervertebral disk morphology
84667	HES7	HP:0002808	Kyphosis
84667	HES7	HP:0000238	Hydrocephalus
84667	HES7	HP:0000252	Microcephaly
84667	HES7	HP:0001537	Umbilical hernia
84667	HES7	HP:0001511	Intrauterine growth retardation
84667	HES7	HP:0002937	Hemivertebrae
84667	HES7	HP:0002948	Vertebral fusion
84667	HES7	HP:0025660	Chiari type II malformation
84667	HES7	HP:0001696	Situs inversus totalis
84667	HES7	HP:0000368	Low-set, posteriorly rotated ears
84667	HES7	HP:0000343	Long philtrum
84667	HES7	HP:0000337	Broad forehead
84667	HES7	HP:0001651	Dextrocardia
84667	HES7	HP:0030323	Unilateral vertebral artery hypoplasia
84667	HES7	HP:0030322	Vertebral artery hypoplasia
84667	HES7	HP:0006655	Rib segmentation abnormalities
84667	HES7	HP:0005280	Depressed nasal bridge
84667	HES7	HP:0000463	Anteverted nares
84667	HES7	HP:0000475	Broad neck
84667	HES7	HP:0000470	Short neck
84668	HYCC1	HP:0007256	Abnormal pyramidal sign
84668	HYCC1	HP:0007210	Lower limb amyotrophy
84668	HYCC1	HP:0002415	Leukodystrophy
84668	HYCC1	HP:0001271	Polyneuropathy
84668	HYCC1	HP:0001270	Motor delay
84668	HYCC1	HP:0001250	Seizure
84668	HYCC1	HP:0001249	Intellectual disability
84668	HYCC1	HP:0001260	Dysarthria
84668	HYCC1	HP:0001263	Global developmental delay
84668	HYCC1	HP:0007340	Lower limb muscle weakness
84668	HYCC1	HP:0002505	Loss of ambulation
84668	HYCC1	HP:0001347	Hyperreflexia
84668	HYCC1	HP:0000007	Autosomal recessive inheritance
84668	HYCC1	HP:0002650	Scoliosis
84668	HYCC1	HP:0001317	Abnormal cerebellum morphology
84668	HYCC1	HP:0008936	Axial hypotonia
84668	HYCC1	HP:0002080	Intention tremor
84668	HYCC1	HP:0003383	Onion bulb formation
84668	HYCC1	HP:0003487	Babinski sign
84668	HYCC1	HP:0003431	Decreased motor nerve conduction velocity
84668	HYCC1	HP:0003429	CNS hypomyelination
84668	HYCC1	HP:0003577	Congenital onset
84668	HYCC1	HP:0002342	Intellectual disability, moderate
84668	HYCC1	HP:0006808	Cerebral hypomyelination
84668	HYCC1	HP:0031936	Delayed ability to walk
84668	HYCC1	HP:0012762	Cerebral white matter atrophy
84668	HYCC1	HP:0030147	Truncal titubation
84668	HYCC1	HP:0000519	Developmental cataract
84679	SLC9A7	HP:0009890	High anterior hairline
84679	SLC9A7	HP:0001290	Generalized hypotonia
84679	SLC9A7	HP:0001263	Global developmental delay
84679	SLC9A7	HP:0001419	X-linked recessive inheritance
84679	SLC9A7	HP:0011800	Midface retrusion
84679	SLC9A7	HP:0004209	Clinodactyly of the 5th finger
84679	SLC9A7	HP:0001999	Abnormal facial shape
84679	SLC9A7	HP:0031936	Delayed ability to walk
84679	SLC9A7	HP:0000750	Delayed speech and language development
84679	SLC9A7	HP:0000276	Long face
84679	SLC9A7	HP:0000219	Thin upper lip vermilion
84679	SLC9A7	HP:0000343	Long philtrum
84679	SLC9A7	HP:0000486	Strabismus
84679	SLC9A7	HP:0000494	Downslanted palpebral fissures
84679	SLC9A7	HP:0000490	Deeply set eye
84679	SLC9A7	HP:0001763	Pes planus
84693	MCEE	HP:0001270	Motor delay
84693	MCEE	HP:0001257	Spasticity
84693	MCEE	HP:0000007	Autosomal recessive inheritance
84693	MCEE	HP:0012120	Methylmalonic aciduria
84693	MCEE	HP:0002020	Gastroesophageal reflux
84693	MCEE	HP:0002160	Hyperhomocystinemia
84693	MCEE	HP:0003593	Infantile onset
84693	MCEE	HP:0001944	Dehydration
84693	MCEE	HP:0001942	Metabolic acidosis
84693	MCEE	HP:0001508	Failure to thrive
84693	MCEE	HP:0002919	Ketonuria
84693	MCEE	HP:0031544	Elevated circulating palmitoleylcarnitine concentration
84695	LOXL3	HP:0002656	Epiphyseal dysplasia
84695	LOXL3	HP:0000007	Autosomal recessive inheritance
84695	LOXL3	HP:0000175	Cleft palate
84695	LOXL3	HP:0003301	Irregular vertebral endplates
84695	LOXL3	HP:0005930	Abnormal epiphysis morphology
84695	LOXL3	HP:0000646	Amblyopia
84695	LOXL3	HP:0004322	Short stature
84695	LOXL3	HP:0005692	Joint hyperflexibility
84695	LOXL3	HP:0011463	Childhood onset
84695	LOXL3	HP:0000926	Platyspondyly
84695	LOXL3	HP:0000272	Malar flattening
84695	LOXL3	HP:0007773	Vitreoretinopathy
84695	LOXL3	HP:0002857	Genu valgum
84695	LOXL3	HP:0012368	Flat face
84695	LOXL3	HP:0011003	High myopia
84695	LOXL3	HP:0000347	Micrognathia
84695	LOXL3	HP:0000407	Sensorineural hearing impairment
84695	LOXL3	HP:0000483	Astigmatism
84695	LOXL3	HP:0000518	Cataract
84695	LOXL3	HP:0000541	Retinal detachment
84695	LOXL3	HP:0000545	Myopia
84699	CREB3L3	HP:0000006	Autosomal dominant inheritance
84699	CREB3L3	HP:0002155	Hypertriglyceridemia
84699	CREB3L3	HP:0003124	Hypercholesterolemia
84699	CREB3L3	HP:0003233	Decreased HDL cholesterol concentration
84700	MYO18B	HP:0003798	Nemaline bodies
84700	MYO18B	HP:0001290	Generalized hypotonia
84700	MYO18B	HP:0001270	Motor delay
84700	MYO18B	HP:0008807	Acetabular dysplasia
84700	MYO18B	HP:0001371	Flexion contracture
84700	MYO18B	HP:0000007	Autosomal recessive inheritance
84700	MYO18B	HP:0004602	Cervical C2/C3 vertebral fusion
84700	MYO18B	HP:0002162	Low posterior hairline
84700	MYO18B	HP:0004322	Short stature
84700	MYO18B	HP:0003198	Myopathy
84700	MYO18B	HP:0000252	Microcephaly
84700	MYO18B	HP:0000219	Thin upper lip vermilion
84700	MYO18B	HP:0000218	High palate
84700	MYO18B	HP:0000232	Everted lower lip vermilion
84700	MYO18B	HP:0002944	Thoracolumbar scoliosis
84700	MYO18B	HP:0000369	Low-set ears
84700	MYO18B	HP:0000341	Narrow forehead
84700	MYO18B	HP:0000343	Long philtrum
84700	MYO18B	HP:0000347	Micrognathia
84700	MYO18B	HP:0001638	Cardiomyopathy
84700	MYO18B	HP:0000470	Short neck
84700	MYO18B	HP:0000465	Webbed neck
84700	MYO18B	HP:0000414	Bulbous nose
84700	MYO18B	HP:0000430	Underdeveloped nasal alae
84700	MYO18B	HP:0000508	Ptosis
84701	COX4I2	HP:0001263	Global developmental delay
84701	COX4I2	HP:0002570	Steatorrhea
84701	COX4I2	HP:0010972	Anemia of inadequate production
84701	COX4I2	HP:0000007	Autosomal recessive inheritance
84701	COX4I2	HP:0002750	Delayed skeletal maturation
84701	COX4I2	HP:0002099	Asthma
84701	COX4I2	HP:0003593	Infantile onset
84701	COX4I2	HP:0002240	Hepatomegaly
84701	COX4I2	HP:0003623	Neonatal onset
84701	COX4I2	HP:0000670	Carious teeth
84701	COX4I2	HP:0004395	Malnutrition
84701	COX4I2	HP:0003193	Allergic rhinitis
84701	COX4I2	HP:0004490	Calvarial hyperostosis
84701	COX4I2	HP:0000988	Skin rash
84701	COX4I2	HP:0000952	Jaundice
84701	COX4I2	HP:0000938	Osteopenia
84701	COX4I2	HP:0001508	Failure to thrive
84701	COX4I2	HP:0001738	Exocrine pancreatic insufficiency
84701	COX4I2	HP:0001744	Splenomegaly
84705	GTPBP3	HP:0002415	Leukodystrophy
84705	GTPBP3	HP:0001290	Generalized hypotonia
84705	GTPBP3	HP:0001256	Intellectual disability, mild
84705	GTPBP3	HP:0001250	Seizure
84705	GTPBP3	HP:0001252	Hypotonia
84705	GTPBP3	HP:0001263	Global developmental delay
84705	GTPBP3	HP:0003828	Variable expressivity
84705	GTPBP3	HP:0008872	Feeding difficulties in infancy
84705	GTPBP3	HP:0000007	Autosomal recessive inheritance
84705	GTPBP3	HP:0008947	Infantile muscular hypotonia
84705	GTPBP3	HP:0100543	Cognitive impairment
84705	GTPBP3	HP:0003388	Easy fatigability
84705	GTPBP3	HP:0002151	Increased serum lactate
84705	GTPBP3	HP:0011923	Decreased activity of mitochondrial complex I
84705	GTPBP3	HP:0008347	Decreased activity of mitochondrial complex IV
84705	GTPBP3	HP:0011968	Feeding difficulties
84705	GTPBP3	HP:0012696	Abnormal thalamic MRI signal intensity
84705	GTPBP3	HP:0012666	Severely reduced left ventricular ejection fraction
84705	GTPBP3	HP:0012747	Abnormal brainstem MRI signal intensity
84705	GTPBP3	HP:0012751	Abnormal basal ganglia MRI signal intensity
84705	GTPBP3	HP:0000707	Abnormality of the nervous system
84705	GTPBP3	HP:0012763	Paroxysmal dyspnea
84705	GTPBP3	HP:0003128	Lactic acidosis
84705	GTPBP3	HP:0010307	Stridor
84705	GTPBP3	HP:0000961	Cyanosis
84705	GTPBP3	HP:0011675	Arrhythmia
84705	GTPBP3	HP:0002878	Respiratory failure
84705	GTPBP3	HP:0001508	Failure to thrive
84705	GTPBP3	HP:0001511	Intrauterine growth retardation
84705	GTPBP3	HP:0001667	Right ventricular hypertrophy
84705	GTPBP3	HP:0001639	Hypertrophic cardiomyopathy
84705	GTPBP3	HP:0001635	Congestive heart failure
84705	GTPBP3	HP:0001638	Cardiomyopathy
84705	GTPBP3	HP:0001716	Wolff-Parkinson-White syndrome
84705	GTPBP3	HP:0001712	Left ventricular hypertrophy
84705	GTPBP3	HP:0000505	Visual impairment
84706	GPT2	HP:0001298	Encephalopathy
84706	GPT2	HP:0001276	Hypertonia
84706	GPT2	HP:0001250	Seizure
84706	GPT2	HP:0001252	Hypotonia
84706	GPT2	HP:0001249	Intellectual disability
84706	GPT2	HP:0001260	Dysarthria
84706	GPT2	HP:0001263	Global developmental delay
84706	GPT2	HP:0001258	Spastic paraplegia
84706	GPT2	HP:0001257	Spasticity
84706	GPT2	HP:0001371	Flexion contracture
84706	GPT2	HP:0001347	Hyperreflexia
84706	GPT2	HP:0001344	Absent speech
84706	GPT2	HP:0000007	Autosomal recessive inheritance
84706	GPT2	HP:0001337	Tremor
84706	GPT2	HP:0002069	Bilateral tonic-clonic seizure
84706	GPT2	HP:0002079	Hypoplasia of the corpus callosum
84706	GPT2	HP:0003487	Babinski sign
84706	GPT2	HP:0002121	Generalized non-motor (absence) seizure
84706	GPT2	HP:0002136	Broad-based gait
84706	GPT2	HP:0003593	Infantile onset
84706	GPT2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
84706	GPT2	HP:0003676	Progressive
84706	GPT2	HP:0002355	Difficulty walking
84706	GPT2	HP:0002307	Drooling
84706	GPT2	HP:0006829	Severe muscular hypotonia
84706	GPT2	HP:0000601	Hypotelorism
84706	GPT2	HP:0011400	Abnormal CNS myelination
84706	GPT2	HP:0000750	Delayed speech and language development
84706	GPT2	HP:0011470	Nasogastric tube feeding in infancy
84706	GPT2	HP:0000286	Epicanthus
84706	GPT2	HP:0000252	Microcephaly
84706	GPT2	HP:0000218	High palate
84706	GPT2	HP:0001508	Failure to thrive
84706	GPT2	HP:0000358	Posteriorly rotated ears
84706	GPT2	HP:0000369	Low-set ears
84706	GPT2	HP:0000341	Narrow forehead
84706	GPT2	HP:0005484	Secondary microcephaly
84720	PIGO	HP:0001195	Single umbilical artery
84720	PIGO	HP:0010864	Intellectual disability, severe
84720	PIGO	HP:0010850	EEG with spike-wave complexes
84720	PIGO	HP:0001288	Gait disturbance
84720	PIGO	HP:0001250	Seizure
84720	PIGO	HP:0001252	Hypotonia
84720	PIGO	HP:0001251	Ataxia
84720	PIGO	HP:0001249	Intellectual disability
84720	PIGO	HP:0001263	Global developmental delay
84720	PIGO	HP:0002558	Supernumerary nipple
84720	PIGO	HP:0006118	Shortening of all distal phalanges of the fingers
84720	PIGO	HP:0002553	Highly arched eyebrow
84720	PIGO	HP:0000076	Vesicoureteral reflux
84720	PIGO	HP:0001385	Hip dysplasia
84720	PIGO	HP:0002696	Abnormal parietal bone morphology
84720	PIGO	HP:0001357	Plagiocephaly
84720	PIGO	HP:0000007	Autosomal recessive inheritance
84720	PIGO	HP:0001336	Myoclonus
84720	PIGO	HP:0002650	Scoliosis
84720	PIGO	HP:0001315	Reduced tendon reflexes
84720	PIGO	HP:0000193	Bifid uvula
84720	PIGO	HP:0000175	Cleft palate
84720	PIGO	HP:0008947	Infantile muscular hypotonia
84720	PIGO	HP:0000126	Hydronephrosis
84720	PIGO	HP:0002714	Downturned corners of mouth
84720	PIGO	HP:0002025	Anal stenosis
84720	PIGO	HP:0002023	Anal atresia
84720	PIGO	HP:0002069	Bilateral tonic-clonic seizure
84720	PIGO	HP:0002119	Ventriculomegaly
84720	PIGO	HP:0003577	Congenital onset
84720	PIGO	HP:0002251	Aganglionic megacolon
84720	PIGO	HP:0002392	EEG with polyspike wave complexes
84720	PIGO	HP:0002342	Intellectual disability, moderate
84720	PIGO	HP:0001009	Telangiectasia
84720	PIGO	HP:0010804	Tented upper lip vermilion
84720	PIGO	HP:0004969	Peripheral pulmonary artery stenosis
84720	PIGO	HP:0006808	Cerebral hypomyelination
84720	PIGO	HP:0000637	Long palpebral fissure
84720	PIGO	HP:0010055	Broad hallux
84720	PIGO	HP:0011326	Anterior plagiocephaly
84720	PIGO	HP:0011316	Left unicoronal synostosis
84720	PIGO	HP:0000657	Oculomotor apraxia
84720	PIGO	HP:0001999	Abnormal facial shape
84720	PIGO	HP:0031936	Delayed ability to walk
84720	PIGO	HP:0000767	Pectus excavatum
84720	PIGO	HP:0000750	Delayed speech and language development
84720	PIGO	HP:0000729	Autistic behavior
84720	PIGO	HP:0011471	Gastrostomy tube feeding in infancy
84720	PIGO	HP:0003196	Short nose
84720	PIGO	HP:0003155	Elevated circulating alkaline phosphatase concentration
84720	PIGO	HP:0040194	Increased head circumference
84720	PIGO	HP:0040195	Decreased head circumference
84720	PIGO	HP:0000286	Epicanthus
84720	PIGO	HP:0000280	Coarse facial features
84720	PIGO	HP:0000289	Broad philtrum
84720	PIGO	HP:0030084	Clinodactyly
84720	PIGO	HP:0000252	Microcephaly
84720	PIGO	HP:0000248	Brachycephaly
84720	PIGO	HP:0000218	High palate
84720	PIGO	HP:0001545	Anteriorly placed anus
84720	PIGO	HP:0001562	Oligohydramnios
84720	PIGO	HP:0001510	Growth delay
84720	PIGO	HP:0000378	Cupped ear
84720	PIGO	HP:0000391	Thickened helices
84720	PIGO	HP:0000365	Hearing impairment
84720	PIGO	HP:0000347	Micrognathia
84720	PIGO	HP:0000316	Hypertelorism
84720	PIGO	HP:0000311	Round face
84720	PIGO	HP:0000322	Short philtrum
84720	PIGO	HP:0001631	Atrial septal defect
84720	PIGO	HP:0000303	Mandibular prognathia
84720	PIGO	HP:0001792	Small nail
84720	PIGO	HP:0000455	Broad nasal tip
84720	PIGO	HP:0000470	Short neck
84720	PIGO	HP:0000414	Bulbous nose
84720	PIGO	HP:0000431	Wide nasal bridge
84720	PIGO	HP:0000426	Prominent nasal bridge
84720	PIGO	HP:0001804	Hypoplastic fingernail
84720	PIGO	HP:0000582	Upslanted palpebral fissure
84720	PIGO	HP:0000594	Shallow anterior chamber
84720	PIGO	HP:0000565	Esotropia
84720	PIGO	HP:0000540	Hypermetropia
84733	CBX2	HP:0008715	Testicular dysgenesis
84733	CBX2	HP:0000044	Hypogonadotropic hypogonadism
84733	CBX2	HP:0000037	Male pseudohermaphroditism
84733	CBX2	HP:0000055	Abnormality of female external genitalia
84733	CBX2	HP:0000007	Autosomal recessive inheritance
84733	CBX2	HP:0000147	Polycystic ovaries
84733	CBX2	HP:0008232	Elevated circulating follicle stimulating hormone level
84733	CBX2	HP:0012245	Sex reversal
84733	CBX2	HP:0001579	Primary hypercortisolism
84733	CBX2	HP:0030345	Abnormal circulating luteinizing hormone concentration
84816	RTN4IP1	HP:0001256	Intellectual disability, mild
84816	RTN4IP1	HP:0001251	Ataxia
84816	RTN4IP1	HP:0000007	Autosomal recessive inheritance
84816	RTN4IP1	HP:0007663	Reduced visual acuity
84816	RTN4IP1	HP:0000639	Nystagmus
84816	RTN4IP1	HP:0000613	Photophobia
84816	RTN4IP1	HP:0000603	Central scotoma
84816	RTN4IP1	HP:0030644	Blind-spot enlargment
84816	RTN4IP1	HP:0011463	Childhood onset
84816	RTN4IP1	HP:0032794	Myoclonic seizure
84816	RTN4IP1	HP:0007976	Cerulean cataract
84816	RTN4IP1	HP:0000551	Color vision defect
84816	RTN4IP1	HP:0000543	Optic disc pallor
84818	IL17RC	HP:0100825	Cheilitis
84818	IL17RC	HP:0001250	Seizure
84818	IL17RC	HP:0001231	Abnormal fingernail morphology
84818	IL17RC	HP:0008872	Feeding difficulties in infancy
84818	IL17RC	HP:0000010	Recurrent urinary tract infections
84818	IL17RC	HP:0000007	Autosomal recessive inheritance
84818	IL17RC	HP:0000159	Abnormal lip morphology
84818	IL17RC	HP:0000142	Abnormal vagina morphology
84818	IL17RC	HP:0000153	Abnormality of the mouth
84818	IL17RC	HP:0012115	Hepatitis
84818	IL17RC	HP:0002719	Recurrent infections
84818	IL17RC	HP:0002715	Abnormality of the immune system
84818	IL17RC	HP:0002728	Chronic mucocutaneous candidiasis
84818	IL17RC	HP:0002105	Hemoptysis
84818	IL17RC	HP:0003593	Infantile onset
84818	IL17RC	HP:0002205	Recurrent respiratory infections
84818	IL17RC	HP:0033351	Candida esophagitis
84818	IL17RC	HP:0008388	Abnormal toenail morphology
84818	IL17RC	HP:0200034	Papule
84818	IL17RC	HP:0200042	Skin ulcer
84818	IL17RC	HP:0010783	Erythema
84818	IL17RC	HP:0000682	Abnormal dental enamel morphology
84818	IL17RC	HP:0004306	Abnormal endocardium morphology
84818	IL17RC	HP:0004370	Abnormality of temperature regulation
84818	IL17RC	HP:0012735	Cough
84818	IL17RC	HP:0011463	Childhood onset
84818	IL17RC	HP:0000790	Hematuria
84818	IL17RC	HP:0000989	Pruritus
84818	IL17RC	HP:0000988	Skin rash
84818	IL17RC	HP:0000951	Abnormality of the skin
84818	IL17RC	HP:0000962	Hyperkeratosis
84818	IL17RC	HP:0001597	Abnormality of the nail
84818	IL17RC	HP:0012203	Onychomycosis
84818	IL17RC	HP:0030016	Dyspareunia
84818	IL17RC	HP:0000478	Abnormality of the eye
84818	IL17RC	HP:0011107	Recurrent aphthous stomatitis
84818	IL17RC	HP:0001821	Broad nail
84818	IL17RC	HP:0000504	Abnormality of vision
84823	LMNB2	HP:0001182	Tapered finger
84823	LMNB2	HP:0009879	Simplified gyral pattern
84823	LMNB2	HP:0003745	Sporadic
84823	LMNB2	HP:0003700	Generalized amyotrophy
84823	LMNB2	HP:0001274	Agenesis of corpus callosum
84823	LMNB2	HP:0100820	Glomerulopathy
84823	LMNB2	HP:0100827	Lymphocytosis
84823	LMNB2	HP:0001250	Seizure
84823	LMNB2	HP:0001249	Intellectual disability
84823	LMNB2	HP:0001263	Global developmental delay
84823	LMNB2	HP:0032327	Interhemispheric cyst
84823	LMNB2	HP:0000093	Proteinuria
84823	LMNB2	HP:0001397	Hepatic steatosis
84823	LMNB2	HP:0000054	Micropenis
84823	LMNB2	HP:0001382	Joint hypermobility
84823	LMNB2	HP:0000028	Cryptorchidism
84823	LMNB2	HP:0000007	Autosomal recessive inheritance
84823	LMNB2	HP:0000006	Autosomal dominant inheritance
84823	LMNB2	HP:0001336	Myoclonus
84823	LMNB2	HP:0002650	Scoliosis
84823	LMNB2	HP:0000171	Microglossia
84823	LMNB2	HP:0000147	Polycystic ovaries
84823	LMNB2	HP:0000100	Nephrotic syndrome
84823	LMNB2	HP:0002719	Recurrent infections
84823	LMNB2	HP:0002721	Immunodeficiency
84823	LMNB2	HP:0002069	Bilateral tonic-clonic seizure
84823	LMNB2	HP:0002066	Gait ataxia
84823	LMNB2	HP:0100578	Lipoatrophy
84823	LMNB2	HP:0002123	Generalized myoclonic seizure
84823	LMNB2	HP:0002119	Ventriculomegaly
84823	LMNB2	HP:0002133	Status epilepticus
84823	LMNB2	HP:0003577	Congenital onset
84823	LMNB2	HP:0002230	Generalized hirsutism
84823	LMNB2	HP:0002359	Frequent falls
84823	LMNB2	HP:0003676	Progressive
84823	LMNB2	HP:0001007	Hirsutism
84823	LMNB2	HP:0009778	Short thumb
84823	LMNB2	HP:0002307	Drooling
84823	LMNB2	HP:0003621	Juvenile onset
84823	LMNB2	HP:0004209	Clinodactyly of the 5th finger
84823	LMNB2	HP:0009056	Loss of subcutaneous adipose tissue from upper limbs
84823	LMNB2	HP:0009019	Progressive loss of facial adipose tissue
84823	LMNB2	HP:0009002	Loss of truncal subcutaneous adipose tissue
84823	LMNB2	HP:0031936	Delayed ability to walk
84823	LMNB2	HP:0000750	Delayed speech and language development
84823	LMNB2	HP:0011463	Childhood onset
84823	LMNB2	HP:0011451	Primary microcephaly
84823	LMNB2	HP:0000793	Membranoproliferative glomerulonephritis
84823	LMNB2	HP:0000790	Hematuria
84823	LMNB2	HP:0003119	Abnormal circulating lipid concentration
84823	LMNB2	HP:0003198	Myopathy
84823	LMNB2	HP:0000855	Insulin resistance
84823	LMNB2	HP:0000819	Diabetes mellitus
84823	LMNB2	HP:0034360	Action myoclonus
84823	LMNB2	HP:0009381	Short finger
84823	LMNB2	HP:0002829	Arthralgia
84823	LMNB2	HP:0000243	Trigonocephaly
84823	LMNB2	HP:0030043	Hip subluxation
84823	LMNB2	HP:0002907	Microscopic hematuria
84823	LMNB2	HP:0000365	Hearing impairment
84823	LMNB2	HP:0002960	Autoimmunity
84823	LMNB2	HP:0005328	Progeroid facial appearance
84823	LMNB2	HP:0012450	Chronic constipation
84823	LMNB2	HP:0005421	Decreased circulating complement C3 concentration
84823	LMNB2	HP:0001840	Metatarsus adductus
84823	LMNB2	HP:0012510	Extra-axial cerebrospinal fluid accumulation
84833	ATP5MK	HP:0001254	Lethargy
84833	ATP5MK	HP:0001251	Ataxia
84833	ATP5MK	HP:0003819	Death in childhood
84833	ATP5MK	HP:0001347	Hyperreflexia
84833	ATP5MK	HP:0000007	Autosomal recessive inheritance
84833	ATP5MK	HP:0002067	Bradykinesia
84833	ATP5MK	HP:0002072	Chorea
84833	ATP5MK	HP:0002376	Developmental regression
84833	ATP5MK	HP:0000602	Ophthalmoplegia
84833	ATP5MK	HP:0001639	Hypertrophic cardiomyopathy
84839	RAX2	HP:0001133	Constriction of peripheral visual field
84839	RAX2	HP:0007401	Macular atrophy
84839	RAX2	HP:0000007	Autosomal recessive inheritance
84839	RAX2	HP:0000006	Autosomal dominant inheritance
84839	RAX2	HP:0007663	Reduced visual acuity
84839	RAX2	HP:0003596	Middle age onset
84839	RAX2	HP:0000613	Photophobia
84839	RAX2	HP:0000608	Macular degeneration
84839	RAX2	HP:0000662	Nyctalopia
84839	RAX2	HP:0030629	Perifoveal ring of hyperautofluorescence
84839	RAX2	HP:0011463	Childhood onset
84839	RAX2	HP:0011504	Bull's eye maculopathy
84839	RAX2	HP:0000980	Pallor
84839	RAX2	HP:0007703	Abnormality of retinal pigmentation
84839	RAX2	HP:0007737	Bone spicule pigmentation of the retina
84839	RAX2	HP:0007843	Attenuation of retinal blood vessels
84839	RAX2	HP:0007924	Slow decrease in visual acuity
84839	RAX2	HP:0025710	Late young adult onset
84839	RAX2	HP:0000505	Visual impairment
84839	RAX2	HP:0000551	Color vision defect
84839	RAX2	HP:0000548	Cone/cone-rod dystrophy
84839	RAX2	HP:0000543	Optic disc pallor
84842	HPDL	HP:0002490	Increased CSF lactate
84842	HPDL	HP:0001270	Motor delay
84842	HPDL	HP:0001250	Seizure
84842	HPDL	HP:0001249	Intellectual disability
84842	HPDL	HP:0001258	Spastic paraplegia
84842	HPDL	HP:0002530	Axial dystonia
84842	HPDL	HP:0002500	Abnormal cerebral white matter morphology
84842	HPDL	HP:0001371	Flexion contracture
84842	HPDL	HP:0000012	Urinary urgency
84842	HPDL	HP:0000007	Autosomal recessive inheritance
84842	HPDL	HP:0002650	Scoliosis
84842	HPDL	HP:0003326	Myalgia
84842	HPDL	HP:0002015	Dysphagia
84842	HPDL	HP:0002066	Gait ataxia
84842	HPDL	HP:0003394	Muscle spasm
84842	HPDL	HP:0002079	Hypoplasia of the corpus callosum
84842	HPDL	HP:0003487	Babinski sign
84842	HPDL	HP:0002151	Increased serum lactate
84842	HPDL	HP:0003448	Decreased sensory nerve conduction velocity
84842	HPDL	HP:0003431	Decreased motor nerve conduction velocity
84842	HPDL	HP:0003401	Paresthesia
84842	HPDL	HP:0003593	Infantile onset
84842	HPDL	HP:0003577	Congenital onset
84842	HPDL	HP:0004887	Respiratory failure requiring assisted ventilation
84842	HPDL	HP:0003557	Increased variability in muscle fiber diameter
84842	HPDL	HP:0020045	Esodeviation
84842	HPDL	HP:0020049	Exodeviation
84842	HPDL	HP:0002395	Lower limb hyperreflexia
84842	HPDL	HP:0002376	Developmental regression
84842	HPDL	HP:0003676	Progressive
84842	HPDL	HP:0002317	Unsteady gait
84842	HPDL	HP:0003623	Neonatal onset
84842	HPDL	HP:0002307	Drooling
84842	HPDL	HP:0003621	Juvenile onset
84842	HPDL	HP:0000639	Nystagmus
84842	HPDL	HP:0012707	Elevated brain lactate level by MRS
84842	HPDL	HP:0011463	Childhood onset
84842	HPDL	HP:0000278	Retrognathia
84842	HPDL	HP:0000252	Microcephaly
84842	HPDL	HP:0000218	High palate
84842	HPDL	HP:0001531	Failure to thrive in infancy
84842	HPDL	HP:0001510	Growth delay
84842	HPDL	HP:0000343	Long philtrum
84842	HPDL	HP:0000316	Hypertelorism
84842	HPDL	HP:0000463	Anteverted nares
84842	HPDL	HP:0000470	Short neck
84842	HPDL	HP:0000527	Long eyelashes
84842	HPDL	HP:0000505	Visual impairment
84842	HPDL	HP:0000565	Esotropia
84842	HPDL	HP:0000544	External ophthalmoplegia
84868	HAVCR2	HP:0025143	Chills
84868	HAVCR2	HP:0000007	Autosomal recessive inheritance
84868	HAVCR2	HP:0025474	Erythematous plaque
84868	HAVCR2	HP:0012156	Hemophagocytosis
84868	HAVCR2	HP:0001433	Hepatosplenomegaly
84868	HAVCR2	HP:0034403	Subcutaneous panniculitis-like T-cell lymphoma
84868	HAVCR2	HP:0002155	Hypertriglyceridemia
84868	HAVCR2	HP:0011900	Hypofibrinogenemia
84868	HAVCR2	HP:0003596	Middle age onset
84868	HAVCR2	HP:0003584	Late onset
84868	HAVCR2	HP:0200042	Skin ulcer
84868	HAVCR2	HP:0003621	Juvenile onset
84868	HAVCR2	HP:0001945	Fever
84868	HAVCR2	HP:0001903	Anemia
84868	HAVCR2	HP:0011463	Childhood onset
84868	HAVCR2	HP:0011462	Young adult onset
84868	HAVCR2	HP:0003281	Increased circulating ferritin concentration
84868	HAVCR2	HP:0003256	Abnormality of the coagulation cascade
84868	HAVCR2	HP:0000282	Facial edema
84868	HAVCR2	HP:0012378	Fatigue
84868	HAVCR2	HP:0002960	Autoimmunity
84868	HAVCR2	HP:0012490	Panniculitis
84868	HAVCR2	HP:0001744	Splenomegaly
84868	HAVCR2	HP:0001824	Weight loss
84868	HAVCR2	HP:0030350	Erythematous papule
84868	HAVCR2	HP:0001876	Pancytopenia
84876	ORAI1	HP:0003701	Proximal muscle weakness
84876	ORAI1	HP:0001252	Hypotonia
84876	ORAI1	HP:0001263	Global developmental delay
84876	ORAI1	HP:0002527	Falls
84876	ORAI1	HP:0002522	Areflexia of lower limbs
84876	ORAI1	HP:0001324	Muscle weakness
84876	ORAI1	HP:0000007	Autosomal recessive inheritance
84876	ORAI1	HP:0000006	Autosomal dominant inheritance
84876	ORAI1	HP:0002747	Respiratory insufficiency due to muscle weakness
84876	ORAI1	HP:0002719	Recurrent infections
84876	ORAI1	HP:0002721	Immunodeficiency
84876	ORAI1	HP:0002028	Chronic diarrhea
84876	ORAI1	HP:0003326	Myalgia
84876	ORAI1	HP:0003306	Spinal rigidity
84876	ORAI1	HP:0003324	Generalized muscle weakness
84876	ORAI1	HP:0003394	Muscle spasm
84876	ORAI1	HP:0003391	Gowers sign
84876	ORAI1	HP:0002046	Heat intolerance
84876	ORAI1	HP:0003473	Fatigable weakness
84876	ORAI1	HP:0003458	EMG: myopathic abnormalities
84876	ORAI1	HP:0002167	Abnormality of speech or vocalization
84876	ORAI1	HP:0003577	Congenital onset
84876	ORAI1	HP:0003554	Type 2 muscle fiber atrophy
84876	ORAI1	HP:0003557	Increased variability in muscle fiber diameter
84876	ORAI1	HP:0010701	Abnormal immunoglobulin level
84876	ORAI1	HP:0020086	BCGitis
84876	ORAI1	HP:0002355	Difficulty walking
84876	ORAI1	HP:0003687	Centrally nucleated skeletal muscle fibers
84876	ORAI1	HP:0003677	Slowly progressive
84876	ORAI1	HP:0003621	Juvenile onset
84876	ORAI1	HP:0000616	Miosis
84876	ORAI1	HP:0001954	Recurrent fever
84876	ORAI1	HP:0001928	Abnormality of coagulation
84876	ORAI1	HP:0001903	Anemia
84876	ORAI1	HP:0009027	Foot dorsiflexor weakness
84876	ORAI1	HP:0004322	Short stature
84876	ORAI1	HP:0003011	Abnormality of the musculature
84876	ORAI1	HP:0000705	Amelogenesis imperfecta
84876	ORAI1	HP:0011463	Childhood onset
84876	ORAI1	HP:0000778	Hypoplasia of the thymus
84876	ORAI1	HP:0003198	Myopathy
84876	ORAI1	HP:0100301	Muscle fiber tubular inclusions
84876	ORAI1	HP:0010280	Stomatitis
84876	ORAI1	HP:0040088	Abnormal lymphocyte count
84876	ORAI1	HP:0003236	Elevated circulating creatine kinase concentration
84876	ORAI1	HP:0000979	Purpura
84876	ORAI1	HP:0000968	Ectodermal dysplasia
84876	ORAI1	HP:0008064	Ichthyosis
84876	ORAI1	HP:0006466	Ankle flexion contracture
84876	ORAI1	HP:0001522	Death in infancy
84876	ORAI1	HP:0001508	Failure to thrive
84876	ORAI1	HP:0030200	Fatiguable weakness of proximal limb muscles
84876	ORAI1	HP:0002901	Hypocalcemia
84876	ORAI1	HP:0000348	High forehead
84876	ORAI1	HP:0000490	Deeply set eye
84876	ORAI1	HP:0011107	Recurrent aphthous stomatitis
84876	ORAI1	HP:0000467	Neck muscle weakness
84876	ORAI1	HP:0001746	Asplenia
84876	ORAI1	HP:0001872	Abnormality of thrombocytes
84879	MFSD2A	HP:0010864	Intellectual disability, severe
84879	MFSD2A	HP:0002421	Poor head control
84879	MFSD2A	HP:0001274	Agenesis of corpus callosum
84879	MFSD2A	HP:0001285	Spastic tetraparesis
84879	MFSD2A	HP:0001250	Seizure
84879	MFSD2A	HP:0001252	Hypotonia
84879	MFSD2A	HP:0001251	Ataxia
84879	MFSD2A	HP:0001263	Global developmental delay
84879	MFSD2A	HP:0007333	Hypoplasia of the frontal lobes
84879	MFSD2A	HP:0002540	Inability to walk
84879	MFSD2A	HP:0003819	Death in childhood
84879	MFSD2A	HP:0000076	Vesicoureteral reflux
84879	MFSD2A	HP:0001347	Hyperreflexia
84879	MFSD2A	HP:0001344	Absent speech
84879	MFSD2A	HP:0000007	Autosomal recessive inheritance
84879	MFSD2A	HP:0001302	Pachygyria
84879	MFSD2A	HP:0001321	Cerebellar hypoplasia
84879	MFSD2A	HP:0000122	Unilateral renal agenesis
84879	MFSD2A	HP:0002064	Spastic gait
84879	MFSD2A	HP:0002079	Hypoplasia of the corpus callosum
84879	MFSD2A	HP:0002119	Ventriculomegaly
84879	MFSD2A	HP:0003577	Congenital onset
84879	MFSD2A	HP:0002282	Gray matter heterotopia
84879	MFSD2A	HP:0002365	Hypoplasia of the brainstem
84879	MFSD2A	HP:0003676	Progressive
84879	MFSD2A	HP:0004322	Short stature
84879	MFSD2A	HP:0000729	Autistic behavior
84879	MFSD2A	HP:0011421	Death in adolescence
84879	MFSD2A	HP:0003103	Abnormal cortical bone morphology
84879	MFSD2A	HP:0000253	Progressive microcephaly
84879	MFSD2A	HP:0000252	Microcephaly
84879	MFSD2A	HP:0000219	Thin upper lip vermilion
84879	MFSD2A	HP:0001510	Growth delay
84879	MFSD2A	HP:0000340	Sloping forehead
84879	MFSD2A	HP:0001776	Bilateral talipes equinovarus
84879	MFSD2A	HP:0000582	Upslanted palpebral fissure
84888	SPPL2A	HP:0000007	Autosomal recessive inheritance
84888	SPPL2A	HP:0003496	Increased circulating IgM level
84888	SPPL2A	HP:0020086	BCGitis
84888	SPPL2A	HP:0004315	Decreased circulating IgG level
84888	SPPL2A	HP:0003203	Impaired oxidative burst
84892	POMGNT2	HP:0007260	Type II lissencephaly
84892	POMGNT2	HP:0007227	Macrogyria
84892	POMGNT2	HP:0003701	Proximal muscle weakness
84892	POMGNT2	HP:0001274	Agenesis of corpus callosum
84892	POMGNT2	HP:0001270	Motor delay
84892	POMGNT2	HP:0001284	Areflexia
84892	POMGNT2	HP:0001250	Seizure
84892	POMGNT2	HP:0001252	Hypotonia
84892	POMGNT2	HP:0001249	Intellectual disability
84892	POMGNT2	HP:0001265	Hyporeflexia
84892	POMGNT2	HP:0001263	Global developmental delay
84892	POMGNT2	HP:0008736	Hypoplasia of penis
84892	POMGNT2	HP:0002536	Abnormal cortical gyration
84892	POMGNT2	HP:0000028	Cryptorchidism
84892	POMGNT2	HP:0001331	Absent septum pellucidum
84892	POMGNT2	HP:0001328	Specific learning disability
84892	POMGNT2	HP:0001324	Muscle weakness
84892	POMGNT2	HP:0001339	Lissencephaly
84892	POMGNT2	HP:0000007	Autosomal recessive inheritance
84892	POMGNT2	HP:0001305	Dandy-Walker malformation
84892	POMGNT2	HP:0001302	Pachygyria
84892	POMGNT2	HP:0001321	Cerebellar hypoplasia
84892	POMGNT2	HP:0000193	Bifid uvula
84892	POMGNT2	HP:0000176	Submucous cleft hard palate
84892	POMGNT2	HP:0000175	Cleft palate
84892	POMGNT2	HP:0008981	Calf muscle hypertrophy
84892	POMGNT2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
84892	POMGNT2	HP:0003391	Gowers sign
84892	POMGNT2	HP:0002119	Ventriculomegaly
84892	POMGNT2	HP:0002126	Polymicrogyria
84892	POMGNT2	HP:0010508	Metatarsus valgus
84892	POMGNT2	HP:0003593	Infantile onset
84892	POMGNT2	HP:0002269	Abnormality of neuronal migration
84892	POMGNT2	HP:0003577	Congenital onset
84892	POMGNT2	HP:0003560	Muscular dystrophy
84892	POMGNT2	HP:0003693	Distal amyotrophy
84892	POMGNT2	HP:0002334	Abnormal cerebellar vermis morphology
84892	POMGNT2	HP:0003621	Juvenile onset
84892	POMGNT2	HP:0000648	Optic atrophy
84892	POMGNT2	HP:0000612	Iris coloboma
84892	POMGNT2	HP:0000750	Delayed speech and language development
84892	POMGNT2	HP:0040081	Abnormal circulating creatine kinase concentration
84892	POMGNT2	HP:0003236	Elevated circulating creatine kinase concentration
84892	POMGNT2	HP:0003202	Skeletal muscle atrophy
84892	POMGNT2	HP:0045040	Abnormal lactate dehydrogenase level
84892	POMGNT2	HP:0000256	Macrocephaly
84892	POMGNT2	HP:0007731	Chorioretinal dysplasia
84892	POMGNT2	HP:0000238	Hydrocephalus
84892	POMGNT2	HP:0000252	Microcephaly
84892	POMGNT2	HP:0000358	Posteriorly rotated ears
84892	POMGNT2	HP:0000369	Low-set ears
84892	POMGNT2	HP:0007957	Corneal opacity
84892	POMGNT2	HP:0007973	Retinal dysplasia
84892	POMGNT2	HP:0000482	Microcornea
84892	POMGNT2	HP:0012400	Abnormal circulating aldolase concentration
84892	POMGNT2	HP:0000411	Protruding ear
84892	POMGNT2	HP:0000518	Cataract
84892	POMGNT2	HP:0000528	Anophthalmia
84892	POMGNT2	HP:0000501	Glaucoma
84892	POMGNT2	HP:0000587	Abnormal optic nerve morphology
84892	POMGNT2	HP:0000556	Retinal dystrophy
84892	POMGNT2	HP:0000568	Microphthalmia
84892	POMGNT2	HP:0000541	Retinal detachment
84894	LINGO1	HP:0010864	Intellectual disability, severe
84894	LINGO1	HP:0001276	Hypertonia
84894	LINGO1	HP:0001270	Motor delay
84894	LINGO1	HP:0001250	Seizure
84894	LINGO1	HP:0001263	Global developmental delay
84894	LINGO1	HP:0001257	Spasticity
84894	LINGO1	HP:0001350	Slurred speech
84894	LINGO1	HP:0001344	Absent speech
84894	LINGO1	HP:0000007	Autosomal recessive inheritance
84894	LINGO1	HP:0003593	Infantile onset
84894	LINGO1	HP:0011968	Feeding difficulties
84894	LINGO1	HP:0000735	Impaired social interactions
84894	LINGO1	HP:0000718	Aggressive behavior
84894	LINGO1	HP:0000252	Microcephaly
84896	ATAD1	HP:0001181	Adducted thumb
84896	ATAD1	HP:0001298	Encephalopathy
84896	ATAD1	HP:0001276	Hypertonia
84896	ATAD1	HP:0001288	Gait disturbance
84896	ATAD1	HP:0001250	Seizure
84896	ATAD1	HP:0001251	Ataxia
84896	ATAD1	HP:0001249	Intellectual disability
84896	ATAD1	HP:0001263	Global developmental delay
84896	ATAD1	HP:0001257	Spasticity
84896	ATAD1	HP:0002521	Hypsarrhythmia
84896	ATAD1	HP:0001371	Flexion contracture
84896	ATAD1	HP:0001373	Joint dislocation
84896	ATAD1	HP:0001387	Joint stiffness
84896	ATAD1	HP:0000023	Inguinal hernia
84896	ATAD1	HP:0001347	Hyperreflexia
84896	ATAD1	HP:0000007	Autosomal recessive inheritance
84896	ATAD1	HP:0001336	Myoclonus
84896	ATAD1	HP:0002751	Kyphoscoliosis
84896	ATAD1	HP:0002020	Gastroesophageal reflux
84896	ATAD1	HP:0002036	Hiatus hernia
84896	ATAD1	HP:0002063	Rigidity
84896	ATAD1	HP:0002059	Cerebral atrophy
84896	ATAD1	HP:0003577	Congenital onset
84896	ATAD1	HP:0003552	Muscle stiffness
84896	ATAD1	HP:0100790	Hernia
84896	ATAD1	HP:0002380	Fasciculations
84896	ATAD1	HP:0002360	Sleep disturbance
84896	ATAD1	HP:0003676	Progressive
84896	ATAD1	HP:0100633	Esophagitis
84896	ATAD1	HP:0005684	Distal arthrogryposis
84896	ATAD1	HP:0100022	Abnormality of movement
84896	ATAD1	HP:0002827	Hip dislocation
84896	ATAD1	HP:0002878	Respiratory failure
84896	ATAD1	HP:0000218	High palate
84896	ATAD1	HP:0001537	Umbilical hernia
84896	ATAD1	HP:0012385	Camptodactyly
84896	ATAD1	HP:0012469	Infantile spasms
84896	ATAD1	HP:0001762	Talipes equinovarus
84905	ZNF341	HP:0001256	Intellectual disability, mild
84905	ZNF341	HP:0032326	Methicillin-resistant Staphylococcus aureus infection
84905	ZNF341	HP:0001382	Joint hypermobility
84905	ZNF341	HP:0000007	Autosomal recessive inheritance
84905	ZNF341	HP:0000164	Abnormality of the dentition
84905	ZNF341	HP:0031292	Cutaneous abscess
84905	ZNF341	HP:0002754	Osteomyelitis
84905	ZNF341	HP:0002719	Recurrent infections
84905	ZNF341	HP:0002728	Chronic mucocutaneous candidiasis
84905	ZNF341	HP:0002720	Decreased circulating IgA level
84905	ZNF341	HP:0002110	Bronchiectasis
84905	ZNF341	HP:0003416	Spinal canal stenosis
84905	ZNF341	HP:0002205	Recurrent respiratory infections
84905	ZNF341	HP:0001047	Atopic dermatitis
84905	ZNF341	HP:0009098	Chronic oral candidiasis
84905	ZNF341	HP:0003212	Increased circulating IgE level
84905	ZNF341	HP:0000989	Pruritus
84905	ZNF341	HP:0000958	Dry skin
84905	ZNF341	HP:0000964	Eczema
84905	ZNF341	HP:0001596	Alopecia
84905	ZNF341	HP:0001581	Recurrent skin infections
84905	ZNF341	HP:0000218	High palate
84905	ZNF341	HP:0006532	Recurrent pneumonia
84905	ZNF341	HP:0000347	Micrognathia
84905	ZNF341	HP:0001642	Pulmonic stenosis
84905	ZNF341	HP:0025616	Sterile abscess
84905	ZNF341	HP:0001631	Atrial septal defect
84905	ZNF341	HP:0000403	Recurrent otitis media
84905	ZNF341	HP:0011108	Recurrent sinusitis
84905	ZNF341	HP:0000445	Wide nose
84905	ZNF341	HP:0001880	Eosinophilia
84909	AOPEP	HP:0007325	Generalized dystonia
84909	AOPEP	HP:0002533	Abnormal posturing
84909	AOPEP	HP:0000007	Autosomal recessive inheritance
84909	AOPEP	HP:0001300	Parkinsonism
84909	AOPEP	HP:0012179	Craniofacial dystonia
84909	AOPEP	HP:0002015	Dysphagia
84909	AOPEP	HP:0003552	Muscle stiffness
84909	AOPEP	HP:0002355	Difficulty walking
84909	AOPEP	HP:0002356	Writer's cramp
84909	AOPEP	HP:0003621	Juvenile onset
84909	AOPEP	HP:0031959	Leg dystonia
84909	AOPEP	HP:0031960	Arm dystonia
84909	AOPEP	HP:0000716	Depression
84909	AOPEP	HP:0011462	Young adult onset
84909	AOPEP	HP:0001621	Weak voice
84919	PPP1R15B	HP:0002465	Poor speech
84919	PPP1R15B	HP:0002460	Distal muscle weakness
84919	PPP1R15B	HP:0007258	Severe demyelination of the white matter
84919	PPP1R15B	HP:0010864	Intellectual disability, severe
84919	PPP1R15B	HP:0001250	Seizure
84919	PPP1R15B	HP:0001249	Intellectual disability
84919	PPP1R15B	HP:0001260	Dysarthria
84919	PPP1R15B	HP:0001263	Global developmental delay
84919	PPP1R15B	HP:0001257	Spasticity
84919	PPP1R15B	HP:0001238	Slender finger
84919	PPP1R15B	HP:0025383	Dorsocervical fat pad
84919	PPP1R15B	HP:0000089	Renal hypoplasia
84919	PPP1R15B	HP:0001388	Joint laxity
84919	PPP1R15B	HP:0001348	Brisk reflexes
84919	PPP1R15B	HP:0000028	Cryptorchidism
84919	PPP1R15B	HP:0008850	Severe postnatal growth retardation
84919	PPP1R15B	HP:0000007	Autosomal recessive inheritance
84919	PPP1R15B	HP:0002650	Scoliosis
84919	PPP1R15B	HP:0001321	Cerebellar hypoplasia
84919	PPP1R15B	HP:0000160	Narrow mouth
84919	PPP1R15B	HP:0008936	Axial hypotonia
84919	PPP1R15B	HP:0002751	Kyphoscoliosis
84919	PPP1R15B	HP:0002750	Delayed skeletal maturation
84919	PPP1R15B	HP:0002714	Downturned corners of mouth
84919	PPP1R15B	HP:0003307	Hyperlordosis
84919	PPP1R15B	HP:0002066	Gait ataxia
84919	PPP1R15B	HP:0002078	Truncal ataxia
84919	PPP1R15B	HP:0002079	Hypoplasia of the corpus callosum
84919	PPP1R15B	HP:0003468	Abnormal vertebral morphology
84919	PPP1R15B	HP:0002136	Broad-based gait
84919	PPP1R15B	HP:0002213	Fine hair
84919	PPP1R15B	HP:0003508	Proportionate short stature
84919	PPP1R15B	HP:0002365	Hypoplasia of the brainstem
84919	PPP1R15B	HP:0001015	Prominent superficial veins
84919	PPP1R15B	HP:0002313	Spastic paraparesis
84919	PPP1R15B	HP:0200021	Down-sloping shoulders
84919	PPP1R15B	HP:0001943	Hypoglycemia
84919	PPP1R15B	HP:0001946	Ketosis
84919	PPP1R15B	HP:0000601	Hypotelorism
84919	PPP1R15B	HP:0000677	Oligodontia
84919	PPP1R15B	HP:0000685	Hypoplasia of teeth
84919	PPP1R15B	HP:0001988	Recurrent hypoglycemia
84919	PPP1R15B	HP:0011308	Slender toe
84919	PPP1R15B	HP:0001999	Abnormal facial shape
84919	PPP1R15B	HP:0000664	Synophrys
84919	PPP1R15B	HP:0004325	Decreased body weight
84919	PPP1R15B	HP:0004322	Short stature
84919	PPP1R15B	HP:0000767	Pectus excavatum
84919	PPP1R15B	HP:0011451	Primary microcephaly
84919	PPP1R15B	HP:0003196	Short nose
84919	PPP1R15B	HP:0000819	Diabetes mellitus
84919	PPP1R15B	HP:0000821	Hypothyroidism
84919	PPP1R15B	HP:0000823	Delayed puberty
84919	PPP1R15B	HP:0004570	Increased vertebral height
84919	PPP1R15B	HP:0008081	Pes valgus
84919	PPP1R15B	HP:0008070	Sparse hair
84919	PPP1R15B	HP:0010344	Deviation of the 5th toe
84919	PPP1R15B	HP:0000286	Epicanthus
84919	PPP1R15B	HP:0000293	Full cheeks
84919	PPP1R15B	HP:0000294	Low anterior hairline
84919	PPP1R15B	HP:0000275	Narrow face
84919	PPP1R15B	HP:0000274	Small face
84919	PPP1R15B	HP:0030084	Clinodactyly
84919	PPP1R15B	HP:0000252	Microcephaly
84919	PPP1R15B	HP:0000219	Thin upper lip vermilion
84919	PPP1R15B	HP:0001518	Small for gestational age
84919	PPP1R15B	HP:0001511	Intrauterine growth retardation
84919	PPP1R15B	HP:0001510	Growth delay
84919	PPP1R15B	HP:0030186	Kinetic tremor
84919	PPP1R15B	HP:0000365	Hearing impairment
84919	PPP1R15B	HP:0000341	Narrow forehead
84919	PPP1R15B	HP:0000343	Long philtrum
84919	PPP1R15B	HP:0000347	Micrognathia
84919	PPP1R15B	HP:0000311	Round face
84919	PPP1R15B	HP:0000322	Short philtrum
84919	PPP1R15B	HP:0001620	High pitched voice
84919	PPP1R15B	HP:0000407	Sensorineural hearing impairment
84919	PPP1R15B	HP:0000400	Macrotia
84919	PPP1R15B	HP:0000494	Downslanted palpebral fissures
84919	PPP1R15B	HP:0000463	Anteverted nares
84919	PPP1R15B	HP:0012448	Delayed myelination
84919	PPP1R15B	HP:0000470	Short neck
84919	PPP1R15B	HP:0000445	Wide nose
84919	PPP1R15B	HP:0000592	Blue sclerae
84936	ZFYVE19	HP:0000007	Autosomal recessive inheritance
84936	ZFYVE19	HP:0001409	Portal hypertension
84936	ZFYVE19	HP:0001406	Intrahepatic cholestasis
84936	ZFYVE19	HP:0001413	Micronodular cirrhosis
84936	ZFYVE19	HP:0002014	Diarrhea
84936	ZFYVE19	HP:0003593	Infantile onset
84936	ZFYVE19	HP:0003577	Congenital onset
84936	ZFYVE19	HP:0002240	Hepatomegaly
84936	ZFYVE19	HP:0001945	Fever
84936	ZFYVE19	HP:0011463	Childhood onset
84936	ZFYVE19	HP:0034328	Fibro-obliterative bile-duct lesion
84936	ZFYVE19	HP:0000989	Pruritus
84936	ZFYVE19	HP:0000952	Jaundice
84936	ZFYVE19	HP:0006563	Malformation of the hepatic ductal plate
84936	ZFYVE19	HP:0001744	Splenomegaly
84942	WDR73	HP:0001188	Hand clenching
84942	WDR73	HP:0001181	Adducted thumb
84942	WDR73	HP:0002465	Poor speech
84942	WDR73	HP:0002410	Aqueductal stenosis
84942	WDR73	HP:0001276	Hypertonia
84942	WDR73	HP:0001272	Cerebellar atrophy
84942	WDR73	HP:0001270	Motor delay
84942	WDR73	HP:0001250	Seizure
84942	WDR73	HP:0001252	Hypotonia
84942	WDR73	HP:0001251	Ataxia
84942	WDR73	HP:0001249	Intellectual disability
84942	WDR73	HP:0001260	Dysarthria
84942	WDR73	HP:0001263	Global developmental delay
84942	WDR73	HP:0001257	Spasticity
84942	WDR73	HP:0001238	Slender finger
84942	WDR73	HP:0007360	Aplasia/Hypoplasia of the cerebellum
84942	WDR73	HP:0010978	Abnormality of immune system physiology
84942	WDR73	HP:0002510	Spastic tetraplegia
84942	WDR73	HP:0000083	Renal insufficiency
84942	WDR73	HP:0000097	Focal segmental glomerulosclerosis
84942	WDR73	HP:0000093	Proteinuria
84942	WDR73	HP:0001347	Hyperreflexia
84942	WDR73	HP:0001332	Dystonia
84942	WDR73	HP:0000007	Autosomal recessive inheritance
84942	WDR73	HP:0001305	Dandy-Walker malformation
84942	WDR73	HP:0001302	Pachygyria
84942	WDR73	HP:0000164	Abnormality of the dentition
84942	WDR73	HP:0000154	Wide mouth
84942	WDR73	HP:0007676	Hypoplasia of the iris
84942	WDR73	HP:0008936	Axial hypotonia
84942	WDR73	HP:0000100	Nephrotic syndrome
84942	WDR73	HP:0000112	Nephropathy
84942	WDR73	HP:0002036	Hiatus hernia
84942	WDR73	HP:0011800	Midface retrusion
84942	WDR73	HP:0100543	Cognitive impairment
84942	WDR73	HP:0002079	Hypoplasia of the corpus callosum
84942	WDR73	HP:0002059	Cerebral atrophy
84942	WDR73	HP:0009473	Joint contracture of the hand
84942	WDR73	HP:0002119	Ventriculomegaly
84942	WDR73	HP:0100490	Camptodactyly of finger
84942	WDR73	HP:0003593	Infantile onset
84942	WDR73	HP:0002269	Abnormality of neuronal migration
84942	WDR73	HP:0100720	Hypoplasia of the ear cartilage
84942	WDR73	HP:0011968	Feeding difficulties
84942	WDR73	HP:0002365	Hypoplasia of the brainstem
84942	WDR73	HP:0002360	Sleep disturbance
84942	WDR73	HP:0001010	Hypopigmentation of the skin
84942	WDR73	HP:0002353	EEG abnormality
84942	WDR73	HP:0007153	Progressive extrapyramidal movement disorder
84942	WDR73	HP:0000639	Nystagmus
84942	WDR73	HP:0001967	Diffuse mesangial sclerosis
84942	WDR73	HP:0000648	Optic atrophy
84942	WDR73	HP:0000601	Hypotelorism
84942	WDR73	HP:0004322	Short stature
84942	WDR73	HP:0003073	Hypoalbuminemia
84942	WDR73	HP:0004374	Hemiplegia/hemiparesis
84942	WDR73	HP:0000750	Delayed speech and language development
84942	WDR73	HP:0000951	Abnormality of the skin
84942	WDR73	HP:0000286	Epicanthus
84942	WDR73	HP:0005108	Abnormal intervertebral disk morphology
84942	WDR73	HP:0007759	Opacification of the corneal stroma
84942	WDR73	HP:0000252	Microcephaly
84942	WDR73	HP:0000218	High palate
84942	WDR73	HP:0001562	Oligohydramnios
84942	WDR73	HP:0001518	Small for gestational age
84942	WDR73	HP:0001511	Intrauterine growth retardation
84942	WDR73	HP:0012385	Camptodactyly
84942	WDR73	HP:0000369	Low-set ears
84942	WDR73	HP:0000340	Sloping forehead
84942	WDR73	HP:0000347	Micrognathia
84942	WDR73	HP:0000316	Hypertelorism
84942	WDR73	HP:0001622	Premature birth
84942	WDR73	HP:0000400	Macrotia
84942	WDR73	HP:0000486	Strabismus
84942	WDR73	HP:0001792	Small nail
84942	WDR73	HP:0012444	Brain atrophy
84942	WDR73	HP:0000448	Prominent nose
84942	WDR73	HP:0000418	Narrow nasal ridge
84942	WDR73	HP:0001762	Talipes equinovarus
84942	WDR73	HP:0001761	Pes cavus
84942	WDR73	HP:0005484	Secondary microcephaly
84942	WDR73	HP:0005469	Flat occiput
84942	WDR73	HP:0000518	Cataract
84942	WDR73	HP:0000508	Ptosis
84942	WDR73	HP:0000568	Microphthalmia
84947	SERAC1	HP:0001298	Encephalopathy
84947	SERAC1	HP:0001290	Generalized hypotonia
84947	SERAC1	HP:0001272	Cerebellar atrophy
84947	SERAC1	HP:0001250	Seizure
84947	SERAC1	HP:0001252	Hypotonia
84947	SERAC1	HP:0001249	Intellectual disability
84947	SERAC1	HP:0001263	Global developmental delay
84947	SERAC1	HP:0001257	Spasticity
84947	SERAC1	HP:0002540	Inability to walk
84947	SERAC1	HP:0003828	Variable expressivity
84947	SERAC1	HP:0001332	Dystonia
84947	SERAC1	HP:0001344	Absent speech
84947	SERAC1	HP:0000007	Autosomal recessive inheritance
84947	SERAC1	HP:0002719	Recurrent infections
84947	SERAC1	HP:0002071	Abnormality of extrapyramidal motor function
84947	SERAC1	HP:0002151	Increased serum lactate
84947	SERAC1	HP:0003535	3-Methylglutaconic aciduria
84947	SERAC1	HP:0011968	Feeding difficulties
84947	SERAC1	HP:0002376	Developmental regression
84947	SERAC1	HP:0000648	Optic atrophy
84947	SERAC1	HP:0001943	Hypoglycemia
84947	SERAC1	HP:0001987	Hyperammonemia
84947	SERAC1	HP:0003128	Lactic acidosis
84947	SERAC1	HP:0003256	Abnormality of the coagulation cascade
84947	SERAC1	HP:0040187	Neonatal sepsis
84947	SERAC1	HP:0000252	Microcephaly
84947	SERAC1	HP:0001508	Failure to thrive
84947	SERAC1	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
84947	SERAC1	HP:0000407	Sensorineural hearing impairment
84947	SERAC1	HP:0012444	Brain atrophy
84957	RELT	HP:0000007	Autosomal recessive inheritance
84957	RELT	HP:0006286	Yellow-brown discoloration of the teeth
84957	RELT	HP:0009102	Anterior open-bite malocclusion
84957	RELT	HP:0000705	Amelogenesis imperfecta
84957	RELT	HP:0011084	Hypocalcification of dental enamel
84976	DISP1	HP:0002465	Poor speech
84976	DISP1	HP:0002474	Expressive language delay
84976	DISP1	HP:0002451	Limb dystonia
84976	DISP1	HP:0007301	Oromotor apraxia
84976	DISP1	HP:0009932	Single naris
84976	DISP1	HP:0009914	Cyclopia
84976	DISP1	HP:0002418	Abnormal midbrain morphology
84976	DISP1	HP:0001290	Generalized hypotonia
84976	DISP1	HP:0001274	Agenesis of corpus callosum
84976	DISP1	HP:0001273	Abnormal corpus callosum morphology
84976	DISP1	HP:0001254	Lethargy
84976	DISP1	HP:0001250	Seizure
84976	DISP1	HP:0001249	Intellectual disability
84976	DISP1	HP:0001257	Spasticity
84976	DISP1	HP:0008736	Hypoplasia of penis
84976	DISP1	HP:0007375	Abnormal septum pellucidum morphology
84976	DISP1	HP:0002540	Inability to walk
84976	DISP1	HP:0000062	Ambiguous genitalia
84976	DISP1	HP:0001371	Flexion contracture
84976	DISP1	HP:0001355	Megalencephaly
84976	DISP1	HP:0001360	Holoprosencephaly
84976	DISP1	HP:0001328	Specific learning disability
84976	DISP1	HP:0001344	Absent speech
84976	DISP1	HP:0002650	Scoliosis
84976	DISP1	HP:0000193	Bifid uvula
84976	DISP1	HP:0000161	Median cleft lip
84976	DISP1	HP:0000175	Cleft palate
84976	DISP1	HP:0006315	Solitary median maxillary central incisor
84976	DISP1	HP:0008947	Infantile muscular hypotonia
84976	DISP1	HP:0012110	Hypoplasia of the pons
84976	DISP1	HP:0000119	Abnormality of the genitourinary system
84976	DISP1	HP:0002793	Abnormal pattern of respiration
84976	DISP1	HP:0000104	Renal agenesis
84976	DISP1	HP:0002020	Gastroesophageal reflux
84976	DISP1	HP:0002019	Constipation
84976	DISP1	HP:0002033	Poor suck
84976	DISP1	HP:0002015	Dysphagia
84976	DISP1	HP:0002013	Vomiting
84976	DISP1	HP:0040327	Abnormal morphology of the olfactory bulb
84976	DISP1	HP:0005968	Temperature instability
84976	DISP1	HP:0002099	Asthma
84976	DISP1	HP:0011787	Central hypothyroidism
84976	DISP1	HP:0003468	Abnormal vertebral morphology
84976	DISP1	HP:0003458	EMG: myopathic abnormalities
84976	DISP1	HP:0002270	Abnormality of the autonomic nervous system
84976	DISP1	HP:0100704	Cerebral visual impairment
84976	DISP1	HP:0100710	Impulsivity
84976	DISP1	HP:0002247	Duodenal atresia
84976	DISP1	HP:0010654	Aplasia of the falx cerebri
84976	DISP1	HP:0007018	Attention deficit hyperactivity disorder
84976	DISP1	HP:0010644	Midnasal stenosis
84976	DISP1	HP:0011968	Feeding difficulties
84976	DISP1	HP:0011951	Aspiration pneumonia
84976	DISP1	HP:0002363	Abnormal brainstem morphology
84976	DISP1	HP:0001028	Hemangioma
84976	DISP1	HP:0010804	Tented upper lip vermilion
84976	DISP1	HP:0009800	Maternal diabetes
84976	DISP1	HP:0031860	Abnormal heart rate variability
84976	DISP1	HP:0000612	Iris coloboma
84976	DISP1	HP:0000601	Hypotelorism
84976	DISP1	HP:0009062	Infantile axial hypotonia
84976	DISP1	HP:0012650	Perisylvian polymicrogyria
84976	DISP1	HP:0004322	Short stature
84976	DISP1	HP:0006979	Sleep-wake cycle disturbance
84976	DISP1	HP:0030680	Abnormality of cardiovascular system morphology
84976	DISP1	HP:0031913	Rhombencephalosynapsis
84976	DISP1	HP:0000772	Abnormal rib morphology
84976	DISP1	HP:0000737	Irritability
84976	DISP1	HP:0000739	Anxiety
84976	DISP1	HP:0000736	Short attention span
84976	DISP1	HP:0012718	Morphological abnormality of the gastrointestinal tract
84976	DISP1	HP:0000741	Apathy
84976	DISP1	HP:0000716	Depression
84976	DISP1	HP:0000708	Atypical behavior
84976	DISP1	HP:0011471	Gastrostomy tube feeding in infancy
84976	DISP1	HP:0011442	Abnormal central motor function
84976	DISP1	HP:0003196	Short nose
84976	DISP1	HP:0000924	Abnormality of the skeletal system
84976	DISP1	HP:0004478	Ethmoidal encephalocele
84976	DISP1	HP:0000873	Diabetes insipidus
84976	DISP1	HP:0000871	Panhypopituitarism
84976	DISP1	HP:0000863	Central diabetes insipidus
84976	DISP1	HP:0000830	Anterior hypopituitarism
84976	DISP1	HP:0012806	Proboscis
84976	DISP1	HP:0000818	Abnormality of the endocrine system
84976	DISP1	HP:0000826	Precocious puberty
84976	DISP1	HP:0000821	Hypothyroidism
84976	DISP1	HP:0000824	Decreased response to growth hormone stimulation test
84976	DISP1	HP:0040064	Abnormality of limbs
84976	DISP1	HP:0045005	Neural tube defect
84976	DISP1	HP:0012285	Abnormal hypothalamus physiology
84976	DISP1	HP:0000256	Macrocephaly
84976	DISP1	HP:0002827	Hip dislocation
84976	DISP1	HP:0000238	Hydrocephalus
84976	DISP1	HP:0000252	Microcephaly
84976	DISP1	HP:0000218	High palate
84976	DISP1	HP:0001545	Anteriorly placed anus
84976	DISP1	HP:0002871	Central apnea
84976	DISP1	HP:0000202	Orofacial cleft
84976	DISP1	HP:0001508	Failure to thrive
84976	DISP1	HP:0001511	Intrauterine growth retardation
84976	DISP1	HP:0001510	Growth delay
84976	DISP1	HP:0006528	Chronic lung disease
84976	DISP1	HP:0001680	Coarctation of aorta
84976	DISP1	HP:0000322	Short philtrum
84976	DISP1	HP:0001627	Abnormal heart morphology
84976	DISP1	HP:0001622	Premature birth
84976	DISP1	HP:0001636	Tetralogy of Fallot
84976	DISP1	HP:0000407	Sensorineural hearing impairment
84976	DISP1	HP:0000486	Strabismus
84976	DISP1	HP:0000478	Abnormality of the eye
84976	DISP1	HP:0000463	Anteverted nares
84976	DISP1	HP:0000457	Depressed nasal ridge
84976	DISP1	HP:0000453	Choanal atresia
84976	DISP1	HP:0000446	Narrow nasal bridge
84978	FRMD5	HP:0001270	Motor delay
84978	FRMD5	HP:0001250	Seizure
84978	FRMD5	HP:0001252	Hypotonia
84978	FRMD5	HP:0001251	Ataxia
84978	FRMD5	HP:0001249	Intellectual disability
84978	FRMD5	HP:0001263	Global developmental delay
84978	FRMD5	HP:0001257	Spasticity
84978	FRMD5	HP:0000020	Urinary incontinence
84978	FRMD5	HP:0001332	Dystonia
84978	FRMD5	HP:0000006	Autosomal dominant inheritance
84978	FRMD5	HP:0001336	Myoclonus
84978	FRMD5	HP:0001302	Pachygyria
84978	FRMD5	HP:0002019	Constipation
84978	FRMD5	HP:0002076	Migraine
84978	FRMD5	HP:0002188	Delayed CNS myelination
84978	FRMD5	HP:0010543	Opsoclonus
84978	FRMD5	HP:0010522	Dyslexia
84978	FRMD5	HP:0003593	Infantile onset
84978	FRMD5	HP:0011968	Feeding difficulties
84978	FRMD5	HP:0003623	Neonatal onset
84978	FRMD5	HP:0000639	Nystagmus
84978	FRMD5	HP:0000739	Anxiety
84978	FRMD5	HP:0001631	Atrial septal defect
84978	FRMD5	HP:0000486	Strabismus
84978	FRMD5	HP:0000565	Esotropia
84984	CEP19	HP:0001162	Postaxial hand polydactyly
84984	CEP19	HP:0001249	Intellectual disability
84984	CEP19	HP:0006101	Finger syndactyly
84984	CEP19	HP:0008736	Hypoplasia of penis
84984	CEP19	HP:0008724	Hypoplasia of the ovary
84984	CEP19	HP:0001397	Hepatic steatosis
84984	CEP19	HP:0001395	Hepatic fibrosis
84984	CEP19	HP:0000028	Cryptorchidism
84984	CEP19	HP:0000027	Azoospermia
84984	CEP19	HP:0000007	Autosomal recessive inheritance
84984	CEP19	HP:0000003	Multicystic kidney dysplasia
84984	CEP19	HP:0000135	Hypogonadism
84984	CEP19	HP:0000100	Nephrotic syndrome
84984	CEP19	HP:0005978	Type II diabetes mellitus
84984	CEP19	HP:0002155	Hypertriglyceridemia
84984	CEP19	HP:0002167	Abnormality of speech or vocalization
84984	CEP19	HP:0002230	Generalized hirsutism
84984	CEP19	HP:0010747	Medial flaring of the eyebrow
84984	CEP19	HP:0000639	Nystagmus
84984	CEP19	HP:0004322	Short stature
84984	CEP19	HP:0000798	Oligospermia
84984	CEP19	HP:0000789	Infertility
84984	CEP19	HP:0003124	Hypercholesterolemia
84984	CEP19	HP:0003141	Increased LDL cholesterol concentration
84984	CEP19	HP:0000855	Insulin resistance
84984	CEP19	HP:0000822	Hypertension
84984	CEP19	HP:0003233	Decreased HDL cholesterol concentration
84984	CEP19	HP:0003202	Skeletal muscle atrophy
84984	CEP19	HP:0001513	Obesity
84984	CEP19	HP:0005181	Premature coronary artery atherosclerosis
84984	CEP19	HP:0000365	Hearing impairment
84984	CEP19	HP:0000368	Low-set, posteriorly rotated ears
84984	CEP19	HP:0001658	Myocardial infarction
84984	CEP19	HP:0001635	Congestive heart failure
84984	CEP19	HP:0000494	Downslanted palpebral fissures
84984	CEP19	HP:0000470	Short neck
84984	CEP19	HP:0000426	Prominent nasal bridge
84984	CEP19	HP:0000512	Abnormal electroretinogram
84984	CEP19	HP:0000580	Pigmentary retinopathy
84987	COX14	HP:0002490	Increased CSF lactate
84987	COX14	HP:0000089	Renal hypoplasia
84987	COX14	HP:0000007	Autosomal recessive inheritance
84987	COX14	HP:0002643	Neonatal respiratory distress
84987	COX14	HP:0002151	Increased serum lactate
84987	COX14	HP:0002240	Hepatomegaly
84987	COX14	HP:0001942	Metabolic acidosis
84987	COX14	HP:0000601	Hypotelorism
84987	COX14	HP:0011400	Abnormal CNS myelination
84987	COX14	HP:0000954	Single transverse palmar crease
84987	COX14	HP:0000218	High palate
84987	COX14	HP:0001562	Oligohydramnios
84987	COX14	HP:0002919	Ketonuria
84987	COX14	HP:0001639	Hypertrophic cardiomyopathy
84987	COX14	HP:0000568	Microphthalmia
84992	PIGY	HP:0001181	Adducted thumb
84992	PIGY	HP:0010943	Echogenic fetal bowel
84992	PIGY	HP:0001195	Single umbilical artery
84992	PIGY	HP:0009894	Thickened ears
84992	PIGY	HP:0010864	Intellectual disability, severe
84992	PIGY	HP:0010850	EEG with spike-wave complexes
84992	PIGY	HP:0001288	Gait disturbance
84992	PIGY	HP:0001250	Seizure
84992	PIGY	HP:0001251	Ataxia
84992	PIGY	HP:0001249	Intellectual disability
84992	PIGY	HP:0001263	Global developmental delay
84992	PIGY	HP:0002558	Supernumerary nipple
84992	PIGY	HP:0006118	Shortening of all distal phalanges of the fingers
84992	PIGY	HP:0002553	Highly arched eyebrow
84992	PIGY	HP:0003819	Death in childhood
84992	PIGY	HP:0001385	Hip dysplasia
84992	PIGY	HP:0000023	Inguinal hernia
84992	PIGY	HP:0002696	Abnormal parietal bone morphology
84992	PIGY	HP:0001357	Plagiocephaly
84992	PIGY	HP:0000007	Autosomal recessive inheritance
84992	PIGY	HP:0001336	Myoclonus
84992	PIGY	HP:0002650	Scoliosis
84992	PIGY	HP:0001315	Reduced tendon reflexes
84992	PIGY	HP:0000193	Bifid uvula
84992	PIGY	HP:0008947	Infantile muscular hypotonia
84992	PIGY	HP:0008936	Axial hypotonia
84992	PIGY	HP:0000126	Hydronephrosis
84992	PIGY	HP:0002714	Downturned corners of mouth
84992	PIGY	HP:0004691	2-3 toe syndactyly
84992	PIGY	HP:0002027	Abdominal pain
84992	PIGY	HP:0002013	Vomiting
84992	PIGY	HP:0002069	Bilateral tonic-clonic seizure
84992	PIGY	HP:0033165	Necrotizing enterocolitis
84992	PIGY	HP:0004742	Abnormal renal collecting system morphology
84992	PIGY	HP:0004719	Hyperechogenic kidneys
84992	PIGY	HP:0003577	Congenital onset
84992	PIGY	HP:0100704	Cerebral visual impairment
84992	PIGY	HP:0002251	Aganglionic megacolon
84992	PIGY	HP:0009748	Large earlobe
84992	PIGY	HP:0011968	Feeding difficulties
84992	PIGY	HP:0002392	EEG with polyspike wave complexes
84992	PIGY	HP:0002376	Developmental regression
84992	PIGY	HP:0002342	Intellectual disability, moderate
84992	PIGY	HP:0001009	Telangiectasia
84992	PIGY	HP:0010844	EEG with multifocal slow activity
84992	PIGY	HP:0009826	Limb undergrowth
84992	PIGY	HP:0010804	Tented upper lip vermilion
84992	PIGY	HP:0004209	Clinodactyly of the 5th finger
84992	PIGY	HP:0006808	Cerebral hypomyelination
84992	PIGY	HP:0000637	Long palpebral fissure
84992	PIGY	HP:0000657	Oculomotor apraxia
84992	PIGY	HP:0001999	Abnormal facial shape
84992	PIGY	HP:0000767	Pectus excavatum
84992	PIGY	HP:0000718	Aggressive behavior
84992	PIGY	HP:0000729	Autistic behavior
84992	PIGY	HP:0011471	Gastrostomy tube feeding in infancy
84992	PIGY	HP:0003155	Elevated circulating alkaline phosphatase concentration
84992	PIGY	HP:0003236	Elevated circulating creatine kinase concentration
84992	PIGY	HP:0003273	Hip contracture
84992	PIGY	HP:0000938	Osteopenia
84992	PIGY	HP:0040194	Increased head circumference
84992	PIGY	HP:0040195	Decreased head circumference
84992	PIGY	HP:0000286	Epicanthus
84992	PIGY	HP:0000280	Coarse facial features
84992	PIGY	HP:0000289	Broad philtrum
84992	PIGY	HP:0030084	Clinodactyly
84992	PIGY	HP:0006380	Knee flexion contracture
84992	PIGY	HP:0000248	Brachycephaly
84992	PIGY	HP:0000218	High palate
84992	PIGY	HP:0001545	Anteriorly placed anus
84992	PIGY	HP:0001562	Oligohydramnios
84992	PIGY	HP:0001561	Polyhydramnios
84992	PIGY	HP:0001522	Death in infancy
84992	PIGY	HP:0001510	Growth delay
84992	PIGY	HP:0000378	Cupped ear
84992	PIGY	HP:0000391	Thickened helices
84992	PIGY	HP:0006528	Chronic lung disease
84992	PIGY	HP:0000341	Narrow forehead
84992	PIGY	HP:0000347	Micrognathia
84992	PIGY	HP:0000316	Hypertelorism
84992	PIGY	HP:0000311	Round face
84992	PIGY	HP:0002987	Elbow flexion contracture
84992	PIGY	HP:0000322	Short philtrum
84992	PIGY	HP:0000303	Mandibular prognathia
84992	PIGY	HP:0005280	Depressed nasal bridge
84992	PIGY	HP:0000490	Deeply set eye
84992	PIGY	HP:0001792	Small nail
84992	PIGY	HP:0000463	Anteverted nares
84992	PIGY	HP:0000470	Short neck
84992	PIGY	HP:0001770	Toe syndactyly
84992	PIGY	HP:0000414	Bulbous nose
84992	PIGY	HP:0000431	Wide nasal bridge
84992	PIGY	HP:0000426	Prominent nasal bridge
84992	PIGY	HP:0000519	Developmental cataract
84992	PIGY	HP:0000505	Visual impairment
84992	PIGY	HP:0000582	Upslanted palpebral fissure
84992	PIGY	HP:0000594	Shallow anterior chamber
84992	PIGY	HP:0000565	Esotropia
84992	PIGY	HP:0000540	Hypermetropia
85007	PHYKPL	HP:0000007	Autosomal recessive inheritance
85007	PHYKPL	HP:0031870	Phosphohydroxylysinuria
85015	USP45	HP:0001141	Severely reduced visual acuity
85015	USP45	HP:0001250	Seizure
85015	USP45	HP:0001252	Hypotonia
85015	USP45	HP:0001249	Intellectual disability
85015	USP45	HP:0001263	Global developmental delay
85015	USP45	HP:0000007	Autosomal recessive inheritance
85015	USP45	HP:0002084	Encephalocele
85015	USP45	HP:0002269	Abnormality of neuronal migration
85015	USP45	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
85015	USP45	HP:0000639	Nystagmus
85015	USP45	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
85015	USP45	HP:0004374	Hemiplegia/hemiparesis
85015	USP45	HP:0012795	Abnormal optic disc morphology
85015	USP45	HP:0007703	Abnormality of retinal pigmentation
85015	USP45	HP:0007843	Attenuation of retinal blood vessels
85015	USP45	HP:0000365	Hearing impairment
85015	USP45	HP:0000518	Cataract
85015	USP45	HP:0000512	Abnormal electroretinogram
85015	USP45	HP:0000505	Visual impairment
85015	USP45	HP:0000563	Keratoconus
85015	USP45	HP:0000546	Retinal degeneration
85015	USP45	HP:0000543	Optic disc pallor
85016	CFAP300	HP:0025177	Peribronchovascular interstitial thickening
85016	CFAP300	HP:0002566	Intestinal malrotation
85016	CFAP300	HP:0001217	Clubbing
85016	CFAP300	HP:0000007	Autosomal recessive inheritance
85016	CFAP300	HP:0002643	Neonatal respiratory distress
85016	CFAP300	HP:0000119	Abnormality of the genitourinary system
85016	CFAP300	HP:0032543	Lithoptysis
85016	CFAP300	HP:0031245	Productive cough
85016	CFAP300	HP:0002011	Morphological central nervous system abnormality
85016	CFAP300	HP:0100582	Nasal polyposis
85016	CFAP300	HP:0002119	Ventriculomegaly
85016	CFAP300	HP:0002110	Bronchiectasis
85016	CFAP300	HP:0008222	Female infertility
85016	CFAP300	HP:0002257	Chronic rhinitis
85016	CFAP300	HP:0100750	Atelectasis
85016	CFAP300	HP:0032016	Abnormal sputum
85016	CFAP300	HP:0011947	Respiratory tract infection
85016	CFAP300	HP:0010772	Anomalous pulmonary venous return
85016	CFAP300	HP:0003623	Neonatal onset
85016	CFAP300	HP:0030680	Abnormality of cardiovascular system morphology
85016	CFAP300	HP:0000750	Delayed speech and language development
85016	CFAP300	HP:0000789	Infertility
85016	CFAP300	HP:0000924	Abnormality of the skeletal system
85016	CFAP300	HP:0011539	Atrial situs ambiguous
85016	CFAP300	HP:0011535	Abnormal atrial arrangement
85016	CFAP300	HP:0030828	Wheezing
85016	CFAP300	HP:0003251	Male infertility
85016	CFAP300	HP:0011617	Pulmonary situs ambiguus
85016	CFAP300	HP:0033036	Decreased nasal nitric oxide
85016	CFAP300	HP:0025576	Abnormal inferior vena cava morphology
85016	CFAP300	HP:0012259	Absent inner and outer dynein arms
85016	CFAP300	HP:0012263	Immotile cilia
85016	CFAP300	HP:0000238	Hydrocephalus
85016	CFAP300	HP:0012206	Abnormal sperm motility
85016	CFAP300	HP:0002878	Respiratory failure
85016	CFAP300	HP:0012384	Rhinitis
85016	CFAP300	HP:0000389	Chronic otitis media
85016	CFAP300	HP:0006536	Airway obstruction
85016	CFAP300	HP:0001696	Situs inversus totalis
85016	CFAP300	HP:0000365	Hearing impairment
85016	CFAP300	HP:0001669	Transposition of the great arteries
85016	CFAP300	HP:0031456	Ectopic pregnancy
85016	CFAP300	HP:0001651	Dextrocardia
85016	CFAP300	HP:0001627	Abnormal heart morphology
85016	CFAP300	HP:0005301	Persistent left superior vena cava
85016	CFAP300	HP:0000403	Recurrent otitis media
85016	CFAP300	HP:0000405	Conductive hearing impairment
85016	CFAP300	HP:0001719	Double outlet right ventricle
85016	CFAP300	HP:0011109	Chronic sinusitis
85016	CFAP300	HP:0001746	Asplenia
85016	CFAP300	HP:0001748	Polysplenia
85016	CFAP300	HP:0001742	Nasal congestion
85016	CFAP300	HP:0005425	Recurrent sinopulmonary infections
85016	CFAP300	HP:0011274	Recurrent mycobacterial infections
85016	CFAP300	HP:0000510	Rod-cone dystrophy
85021	REPS1	HP:0002415	Leukodystrophy
85021	REPS1	HP:0001272	Cerebellar atrophy
85021	REPS1	HP:0001270	Motor delay
85021	REPS1	HP:0001252	Hypotonia
85021	REPS1	HP:0001251	Ataxia
85021	REPS1	HP:0001260	Dysarthria
85021	REPS1	HP:0033643	Increased circulating very long-chain fatty acid concentration
85021	REPS1	HP:0002505	Loss of ambulation
85021	REPS1	HP:0002503	Spinocerebellar tract degeneration
85021	REPS1	HP:0001348	Brisk reflexes
85021	REPS1	HP:0001332	Dystonia
85021	REPS1	HP:0000007	Autosomal recessive inheritance
85021	REPS1	HP:0001337	Tremor
85021	REPS1	HP:0001310	Dysmetria
85021	REPS1	HP:0008936	Axial hypotonia
85021	REPS1	HP:0002015	Dysphagia
85021	REPS1	HP:0002061	Lower limb spasticity
85021	REPS1	HP:0002079	Hypoplasia of the corpus callosum
85021	REPS1	HP:0002059	Cerebral atrophy
85021	REPS1	HP:0003593	Infantile onset
85021	REPS1	HP:0003676	Progressive
85021	REPS1	HP:0000639	Nystagmus
85021	REPS1	HP:0012675	Iron accumulation in brain
85021	REPS1	HP:0000763	Sensory neuropathy
85021	REPS1	HP:0000750	Delayed speech and language development
85021	REPS1	HP:0001761	Pes cavus
85300	ATCAY	HP:0002470	Nonprogressive cerebellar ataxia
85300	ATCAY	HP:0001290	Generalized hypotonia
85300	ATCAY	HP:0001252	Hypotonia
85300	ATCAY	HP:0001260	Dysarthria
85300	ATCAY	HP:0001263	Global developmental delay
85300	ATCAY	HP:0000007	Autosomal recessive inheritance
85300	ATCAY	HP:0001321	Cerebellar hypoplasia
85300	ATCAY	HP:0002080	Intention tremor
85300	ATCAY	HP:0002066	Gait ataxia
85300	ATCAY	HP:0002078	Truncal ataxia
85300	ATCAY	HP:0002136	Broad-based gait
85300	ATCAY	HP:0003577	Congenital onset
85300	ATCAY	HP:0000639	Nystagmus
85300	ATCAY	HP:0000479	Abnormal retinal morphology
85301	COL27A1	HP:0001263	Global developmental delay
85301	COL27A1	HP:0001377	Limited elbow extension
85301	COL27A1	HP:0000007	Autosomal recessive inheritance
85301	COL27A1	HP:0002650	Scoliosis
85301	COL27A1	HP:0011800	Midface retrusion
85301	COL27A1	HP:0003593	Infantile onset
85301	COL27A1	HP:0009702	Carpal synostosis
85301	COL27A1	HP:0004209	Clinodactyly of the 5th finger
85301	COL27A1	HP:0004322	Short stature
85301	COL27A1	HP:0003083	Dislocated radial head
85301	COL27A1	HP:0011463	Childhood onset
85301	COL27A1	HP:0002812	Coxa vara
85301	COL27A1	HP:0002827	Hip dislocation
85301	COL27A1	HP:0002938	Lumbar hyperlordosis
85301	COL27A1	HP:0000316	Hypertelorism
85301	COL27A1	HP:0000407	Sensorineural hearing impairment
85301	COL27A1	HP:0000463	Anteverted nares
85301	COL27A1	HP:0001763	Pes planus
85301	COL27A1	HP:0000431	Wide nasal bridge
85301	COL27A1	HP:0001761	Pes cavus
85301	COL27A1	HP:0011220	Prominent forehead
85358	SHANK3	HP:0001176	Large hands
85358	SHANK3	HP:0007328	Impaired pain sensation
85358	SHANK3	HP:0003745	Sporadic
85358	SHANK3	HP:0003763	Bruxism
85358	SHANK3	HP:0001290	Generalized hypotonia
85358	SHANK3	HP:0001274	Agenesis of corpus callosum
85358	SHANK3	HP:0001270	Motor delay
85358	SHANK3	HP:0001250	Seizure
85358	SHANK3	HP:0001249	Intellectual disability
85358	SHANK3	HP:0001265	Hyporeflexia
85358	SHANK3	HP:0001263	Global developmental delay
85358	SHANK3	HP:0002572	Episodic vomiting
85358	SHANK3	HP:0002518	Abnormal periventricular white matter morphology
85358	SHANK3	HP:0000098	Tall stature
85358	SHANK3	HP:0000077	Abnormality of the kidney
85358	SHANK3	HP:0000076	Vesicoureteral reflux
85358	SHANK3	HP:0001382	Joint hypermobility
85358	SHANK3	HP:0000006	Autosomal dominant inheritance
85358	SHANK3	HP:0001319	Neonatal hypotonia
85358	SHANK3	HP:0012167	Hair-pulling
85358	SHANK3	HP:0000113	Polycystic kidney dysplasia
85358	SHANK3	HP:0000126	Hydronephrosis
85358	SHANK3	HP:0000110	Renal dysplasia
85358	SHANK3	HP:0002719	Recurrent infections
85358	SHANK3	HP:0002721	Immunodeficiency
85358	SHANK3	HP:0002020	Gastroesophageal reflux
85358	SHANK3	HP:0002017	Nausea and vomiting
85358	SHANK3	HP:0004691	2-3 toe syndactyly
85358	SHANK3	HP:0100540	Palpebral edema
85358	SHANK3	HP:0002046	Heat intolerance
85358	SHANK3	HP:0002119	Ventriculomegaly
85358	SHANK3	HP:0002136	Broad-based gait
85358	SHANK3	HP:0002188	Delayed CNS myelination
85358	SHANK3	HP:0008278	Cerebellar cortical atrophy
85358	SHANK3	HP:0100703	Tongue thrusting
85358	SHANK3	HP:0100704	Cerebral visual impairment
85358	SHANK3	HP:0100702	Arachnoid cyst
85358	SHANK3	HP:0100797	Toenail dysplasia
85358	SHANK3	HP:0100753	Schizophrenia
85358	SHANK3	HP:0011968	Feeding difficulties
85358	SHANK3	HP:0002360	Sleep disturbance
85358	SHANK3	HP:0002342	Intellectual disability, moderate
85358	SHANK3	HP:0001004	Lymphedema
85358	SHANK3	HP:0002317	Unsteady gait
85358	SHANK3	HP:0100658	Cellulitis
85358	SHANK3	HP:0003621	Juvenile onset
85358	SHANK3	HP:0004209	Clinodactyly of the 5th finger
85358	SHANK3	HP:0000678	Dental crowding
85358	SHANK3	HP:0000689	Dental malocclusion
85358	SHANK3	HP:0000687	Widely spaced teeth
85358	SHANK3	HP:0005616	Accelerated skeletal maturation
85358	SHANK3	HP:0000752	Hyperactivity
85358	SHANK3	HP:0000735	Impaired social interactions
85358	SHANK3	HP:0000750	Delayed speech and language development
85358	SHANK3	HP:0000718	Aggressive behavior
85358	SHANK3	HP:0000717	Autism
85358	SHANK3	HP:0000710	Hyperorality
85358	SHANK3	HP:0000729	Autistic behavior
85358	SHANK3	HP:0012787	Recurrent pyelonephritis
85358	SHANK3	HP:0011462	Young adult onset
85358	SHANK3	HP:0000966	Hypohidrosis
85358	SHANK3	HP:0000960	Sacral dimple
85358	SHANK3	HP:0000286	Epicanthus
85358	SHANK3	HP:0000293	Full cheeks
85358	SHANK3	HP:0000256	Macrocephaly
85358	SHANK3	HP:0000272	Malar flattening
85358	SHANK3	HP:0000268	Dolichocephaly
85358	SHANK3	HP:0000252	Microcephaly
85358	SHANK3	HP:0001581	Recurrent skin infections
85358	SHANK3	HP:0000218	High palate
85358	SHANK3	HP:0001537	Umbilical hernia
85358	SHANK3	HP:0001513	Obesity
85358	SHANK3	HP:0000365	Hearing impairment
85358	SHANK3	HP:0000343	Long philtrum
85358	SHANK3	HP:0000336	Prominent supraorbital ridges
85358	SHANK3	HP:0000347	Micrognathia
85358	SHANK3	HP:0000316	Hypertelorism
85358	SHANK3	HP:0001643	Patent ductus arteriosus
85358	SHANK3	HP:0000331	Short chin
85358	SHANK3	HP:0001629	Ventricular septal defect
85358	SHANK3	HP:0000307	Pointed chin
85358	SHANK3	HP:0000400	Macrotia
85358	SHANK3	HP:0000486	Strabismus
85358	SHANK3	HP:0000490	Deeply set eye
85358	SHANK3	HP:0011120	Concave nasal ridge
85358	SHANK3	HP:0000414	Bulbous nose
85358	SHANK3	HP:0000411	Protruding ear
85358	SHANK3	HP:0000431	Wide nasal bridge
85358	SHANK3	HP:0000527	Long eyelashes
85358	SHANK3	HP:0000508	Ptosis
85358	SHANK3	HP:0001800	Hypoplastic toenails
85358	SHANK3	HP:0000574	Thick eyebrow
85358	SHANK3	HP:0000540	Hypermetropia
85365	ALG2	HP:0002460	Distal muscle weakness
85365	ALG2	HP:0010864	Intellectual disability, severe
85365	ALG2	HP:0002421	Poor head control
85365	ALG2	HP:0003701	Proximal muscle weakness
85365	ALG2	HP:0001290	Generalized hypotonia
85365	ALG2	HP:0001270	Motor delay
85365	ALG2	HP:0001284	Areflexia
85365	ALG2	HP:0001250	Seizure
85365	ALG2	HP:0001252	Hypotonia
85365	ALG2	HP:0001249	Intellectual disability
85365	ALG2	HP:0001263	Global developmental delay
85365	ALG2	HP:0002521	Hypsarrhythmia
85365	ALG2	HP:0002515	Waddling gait
85365	ALG2	HP:0003803	Type 1 muscle fiber predominance
85365	ALG2	HP:0001371	Flexion contracture
85365	ALG2	HP:0001388	Joint laxity
85365	ALG2	HP:0001347	Hyperreflexia
85365	ALG2	HP:0001332	Dystonia
85365	ALG2	HP:0033725	Thin corpus callosum
85365	ALG2	HP:0000007	Autosomal recessive inheritance
85365	ALG2	HP:0002650	Scoliosis
85365	ALG2	HP:0002020	Gastroesophageal reflux
85365	ALG2	HP:0003325	Limb-girdle muscle weakness
85365	ALG2	HP:0002014	Diarrhea
85365	ALG2	HP:0003307	Hyperlordosis
85365	ALG2	HP:0003394	Muscle spasm
85365	ALG2	HP:0003391	Gowers sign
85365	ALG2	HP:0002079	Hypoplasia of the corpus callosum
85365	ALG2	HP:0003388	Easy fatigability
85365	ALG2	HP:0008180	Mildly elevated creatine kinase
85365	ALG2	HP:0040288	Nasogastric tube feeding
85365	ALG2	HP:0003473	Fatigable weakness
85365	ALG2	HP:0002119	Ventriculomegaly
85365	ALG2	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
85365	ALG2	HP:0002188	Delayed CNS myelination
85365	ALG2	HP:0003593	Infantile onset
85365	ALG2	HP:0002240	Hepatomegaly
85365	ALG2	HP:0003551	Difficulty climbing stairs
85365	ALG2	HP:0003557	Increased variability in muscle fiber diameter
85365	ALG2	HP:0010628	Facial palsy
85365	ALG2	HP:0020045	Esodeviation
85365	ALG2	HP:0003691	Scapular winging
85365	ALG2	HP:0002359	Frequent falls
85365	ALG2	HP:0002355	Difficulty walking
85365	ALG2	HP:0003687	Centrally nucleated skeletal muscle fibers
85365	ALG2	HP:0003677	Slowly progressive
85365	ALG2	HP:0003645	Prolonged partial thromboplastin time
85365	ALG2	HP:0003642	Type I transferrin isoform profile
85365	ALG2	HP:0020152	Distal joint laxity
85365	ALG2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
85365	ALG2	HP:0006808	Cerebral hypomyelination
85365	ALG2	HP:0000639	Nystagmus
85365	ALG2	HP:0000612	Iris coloboma
85365	ALG2	HP:0001929	Reduced factor XI activity
85365	ALG2	HP:0001928	Abnormality of coagulation
85365	ALG2	HP:0009046	Difficulty running
85365	ALG2	HP:0011344	Severe global developmental delay
85365	ALG2	HP:0009028	Generalized weakness of limb muscles
85365	ALG2	HP:0001999	Abnormal facial shape
85365	ALG2	HP:0004325	Decreased body weight
85365	ALG2	HP:0004322	Short stature
85365	ALG2	HP:0006956	Lateral ventricle dilatation
85365	ALG2	HP:0012751	Abnormal basal ganglia MRI signal intensity
85365	ALG2	HP:0000750	Delayed speech and language development
85365	ALG2	HP:0012704	Widened subarachnoid space
85365	ALG2	HP:0000707	Abnormality of the nervous system
85365	ALG2	HP:0011463	Childhood onset
85365	ALG2	HP:0003198	Myopathy
85365	ALG2	HP:0100301	Muscle fiber tubular inclusions
85365	ALG2	HP:0003186	Inverted nipples
85365	ALG2	HP:0000821	Hypothyroidism
85365	ALG2	HP:0003236	Elevated circulating creatine kinase concentration
85365	ALG2	HP:0030890	Hyperintensity of cerebral white matter on MRI
85365	ALG2	HP:0003200	Ragged-red muscle fibers
85365	ALG2	HP:0000286	Epicanthus
85365	ALG2	HP:0006380	Knee flexion contracture
85365	ALG2	HP:0000252	Microcephaly
85365	ALG2	HP:0000218	High palate
85365	ALG2	HP:0011097	Epileptic spasm
85365	ALG2	HP:0012379	Abnormal circulating enzyme concentration or activity
85365	ALG2	HP:0012368	Flat face
85365	ALG2	HP:0030205	Increased jitter at single fiber EMG
85365	ALG2	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors
85365	ALG2	HP:0002938	Lumbar hyperlordosis
85365	ALG2	HP:0030191	Abnormal peripheral nervous system synaptic transmission
85365	ALG2	HP:0000369	Low-set ears
85365	ALG2	HP:0030319	Weakness of facial musculature
85365	ALG2	HP:0000407	Sensorineural hearing impairment
85365	ALG2	HP:0012469	Infantile spasms
85365	ALG2	HP:0000494	Downslanted palpebral fissures
85365	ALG2	HP:0001763	Pes planus
85365	ALG2	HP:0000431	Wide nasal bridge
85365	ALG2	HP:0000518	Cataract
85365	ALG2	HP:0000508	Ptosis
85365	ALG2	HP:0000505	Visual impairment
85365	ALG2	HP:0000582	Upslanted palpebral fissure
85365	ALG2	HP:0001891	Iron deficiency anemia
85365	ALG2	HP:0000565	Esotropia
85365	ALG2	HP:0012520	Dilation of Virchow-Robin spaces
85366	MYLK2	HP:0000006	Autosomal dominant inheritance
85366	MYLK2	HP:0011675	Arrhythmia
85366	MYLK2	HP:0001699	Sudden death
85366	MYLK2	HP:0001670	Asymmetric septal hypertrophy
85366	MYLK2	HP:0001682	Subvalvular aortic stenosis
85366	MYLK2	HP:0001635	Congestive heart failure
85378	TUBGCP6	HP:0009879	Simplified gyral pattern
85378	TUBGCP6	HP:0001276	Hypertonia
85378	TUBGCP6	HP:0001250	Seizure
85378	TUBGCP6	HP:0001249	Intellectual disability
85378	TUBGCP6	HP:0001263	Global developmental delay
85378	TUBGCP6	HP:0007360	Aplasia/Hypoplasia of the cerebellum
85378	TUBGCP6	HP:0000007	Autosomal recessive inheritance
85378	TUBGCP6	HP:0001302	Pachygyria
85378	TUBGCP6	HP:0002650	Scoliosis
85378	TUBGCP6	HP:0001321	Cerebellar hypoplasia
85378	TUBGCP6	HP:0002059	Cerebral atrophy
85378	TUBGCP6	HP:0002120	Cerebral cortical atrophy
85378	TUBGCP6	HP:0002269	Abnormality of neuronal migration
85378	TUBGCP6	HP:0003577	Congenital onset
85378	TUBGCP6	HP:0001000	Abnormality of skin pigmentation
85378	TUBGCP6	HP:0000639	Nystagmus
85378	TUBGCP6	HP:0000648	Optic atrophy
85378	TUBGCP6	HP:0004322	Short stature
85378	TUBGCP6	HP:0004422	Biparietal narrowing
85378	TUBGCP6	HP:0008052	Retinal fold
85378	TUBGCP6	HP:0007703	Abnormality of retinal pigmentation
85378	TUBGCP6	HP:0007731	Chorioretinal dysplasia
85378	TUBGCP6	HP:0000252	Microcephaly
85378	TUBGCP6	HP:0001511	Intrauterine growth retardation
85378	TUBGCP6	HP:0000340	Sloping forehead
85378	TUBGCP6	HP:0000307	Pointed chin
85378	TUBGCP6	HP:0000499	Abnormal eyelash morphology
85378	TUBGCP6	HP:0000486	Strabismus
85378	TUBGCP6	HP:0000463	Anteverted nares
85378	TUBGCP6	HP:0000411	Protruding ear
85378	TUBGCP6	HP:0000431	Wide nasal bridge
85378	TUBGCP6	HP:0000518	Cataract
85378	TUBGCP6	HP:0000505	Visual impairment
85378	TUBGCP6	HP:0000556	Retinal dystrophy
85378	TUBGCP6	HP:0000568	Microphthalmia
85378	TUBGCP6	HP:0000541	Retinal detachment
85378	TUBGCP6	HP:0000543	Optic disc pallor
85440	DOCK7	HP:0002465	Poor speech
85440	DOCK7	HP:0009904	Prominent ear helix
85440	DOCK7	HP:0001252	Hypotonia
85440	DOCK7	HP:0001249	Intellectual disability
85440	DOCK7	HP:0001263	Global developmental delay
85440	DOCK7	HP:0002540	Inability to walk
85440	DOCK7	HP:0002521	Hypsarrhythmia
85440	DOCK7	HP:0001344	Absent speech
85440	DOCK7	HP:0000007	Autosomal recessive inheritance
85440	DOCK7	HP:0001336	Myoclonus
85440	DOCK7	HP:0012105	Occipital cortical atrophy
85440	DOCK7	HP:0012110	Hypoplasia of the pons
85440	DOCK7	HP:0002069	Bilateral tonic-clonic seizure
85440	DOCK7	HP:0002079	Hypoplasia of the corpus callosum
85440	DOCK7	HP:0002121	Generalized non-motor (absence) seizure
85440	DOCK7	HP:0003593	Infantile onset
85440	DOCK7	HP:0100704	Cerebral visual impairment
85440	DOCK7	HP:0009748	Large earlobe
85440	DOCK7	HP:0200134	Epileptic encephalopathy
85440	DOCK7	HP:0002384	Focal impaired awareness seizure
85440	DOCK7	HP:0010841	Multifocal epileptiform discharges
85440	DOCK7	HP:0010819	Atonic seizure
85440	DOCK7	HP:0010818	Generalized tonic seizure
85440	DOCK7	HP:0010730	Double eyebrow
85440	DOCK7	HP:0000629	Periorbital fullness
85440	DOCK7	HP:0000664	Synophrys
85440	DOCK7	HP:0004381	Supravalvular aortic stenosis
85440	DOCK7	HP:0000733	Abnormal repetitive mannerisms
85440	DOCK7	HP:0000717	Autism
85440	DOCK7	HP:0000817	Reduced eye contact
85440	DOCK7	HP:0040159	Abnormal spaced incisors
85440	DOCK7	HP:0000294	Low anterior hairline
85440	DOCK7	HP:0000232	Everted lower lip vermilion
85440	DOCK7	HP:0000377	Abnormal pinna morphology
85440	DOCK7	HP:0000341	Narrow forehead
85440	DOCK7	HP:0032792	Tonic seizure
85440	DOCK7	HP:0000322	Short philtrum
85440	DOCK7	HP:0012469	Infantile spasms
85440	DOCK7	HP:0012471	Thick vermilion border
85440	DOCK7	HP:0000463	Anteverted nares
85440	DOCK7	HP:0000455	Broad nasal tip
85440	DOCK7	HP:0000414	Bulbous nose
85440	DOCK7	HP:0000426	Prominent nasal bridge
85440	DOCK7	HP:0000528	Anophthalmia
85440	DOCK7	HP:0000527	Long eyelashes
85440	DOCK7	HP:0000506	Telecanthus
85440	DOCK7	HP:0000574	Thick eyebrow
85446	ZFHX2	HP:0002661	Painless fractures due to injury
85446	ZFHX2	HP:0000006	Autosomal dominant inheritance
85446	ZFHX2	HP:0007021	Pain insensitivity
85446	ZFHX2	HP:0002315	Headache
85446	ZFHX2	HP:0010829	Impaired temperature sensation
85446	ZFHX2	HP:0000632	Lacrimation abnormality
85446	ZFHX2	HP:0001954	Recurrent fever
85446	ZFHX2	HP:0008000	Decreased corneal reflex
85446	ZFHX2	HP:0000966	Hypohidrosis
85446	ZFHX2	HP:0000559	Corneal scarring
85465	SELENOI	HP:0002493	Upper motor neuron dysfunction
85465	SELENOI	HP:0007220	Demyelinating motor neuropathy
85465	SELENOI	HP:0001270	Motor delay
85465	SELENOI	HP:0001256	Intellectual disability, mild
85465	SELENOI	HP:0001250	Seizure
85465	SELENOI	HP:0001260	Dysarthria
85465	SELENOI	HP:0002540	Inability to walk
85465	SELENOI	HP:0001347	Hyperreflexia
85465	SELENOI	HP:0008848	Moderately short stature
85465	SELENOI	HP:0000007	Autosomal recessive inheritance
85465	SELENOI	HP:0000193	Bifid uvula
85465	SELENOI	HP:0000175	Cleft palate
85465	SELENOI	HP:0007663	Reduced visual acuity
85465	SELENOI	HP:0002061	Lower limb spasticity
85465	SELENOI	HP:0003487	Babinski sign
85465	SELENOI	HP:0002194	Delayed gross motor development
85465	SELENOI	HP:0002191	Progressive spasticity
85465	SELENOI	HP:0100704	Cerebral visual impairment
85465	SELENOI	HP:0008376	Nasal, dysarthic speech
85465	SELENOI	HP:0007020	Progressive spastic paraplegia
85465	SELENOI	HP:0002395	Lower limb hyperreflexia
85465	SELENOI	HP:0003623	Neonatal onset
85465	SELENOI	HP:0007199	Progressive spastic paraparesis
85465	SELENOI	HP:0000648	Optic atrophy
85465	SELENOI	HP:0030625	Hyporeflective spaces on macular OCT
85465	SELENOI	HP:0006986	Upper limb spasticity
85465	SELENOI	HP:0004302	Functional motor deficit
85465	SELENOI	HP:0000750	Delayed speech and language development
85465	SELENOI	HP:0011448	Ankle clonus
85465	SELENOI	HP:0012841	Retinal vascular tortuosity
85465	SELENOI	HP:0030891	Periventricular white matter hyperintensities
85465	SELENOI	HP:0033044	Motor regression
85465	SELENOI	HP:0007768	Central retinal vessel vascular tortuosity
85465	SELENOI	HP:0000252	Microcephaly
85465	SELENOI	HP:0007814	Retinal pigment epithelial mottling
85465	SELENOI	HP:0030182	Tetraplegia/tetraparesis
85465	SELENOI	HP:0000407	Sensorineural hearing impairment
85476	GFM1	HP:0002490	Increased CSF lactate
85476	GFM1	HP:0001276	Hypertonia
85476	GFM1	HP:0001270	Motor delay
85476	GFM1	HP:0001250	Seizure
85476	GFM1	HP:0001257	Spasticity
85476	GFM1	HP:0001396	Cholestasis
85476	GFM1	HP:0001347	Hyperreflexia
85476	GFM1	HP:0000007	Autosomal recessive inheritance
85476	GFM1	HP:0008936	Axial hypotonia
85476	GFM1	HP:0002079	Hypoplasia of the corpus callosum
85476	GFM1	HP:0002151	Increased serum lactate
85476	GFM1	HP:0011924	Decreased activity of mitochondrial complex III
85476	GFM1	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
85476	GFM1	HP:0011923	Decreased activity of mitochondrial complex I
85476	GFM1	HP:0003577	Congenital onset
85476	GFM1	HP:0002240	Hepatomegaly
85476	GFM1	HP:0002283	Global brain atrophy
85476	GFM1	HP:0008347	Decreased activity of mitochondrial complex IV
85476	GFM1	HP:0011968	Feeding difficulties
85476	GFM1	HP:0002375	Hypokinesia
85476	GFM1	HP:0000639	Nystagmus
85476	GFM1	HP:0001942	Metabolic acidosis
85476	GFM1	HP:0004448	Fulminant hepatic failure
85476	GFM1	HP:0000252	Microcephaly
85476	GFM1	HP:0032653	Elevated lactate:pyruvate ratio
85476	GFM1	HP:0001511	Intrauterine growth retardation
85476	GFM1	HP:0012448	Delayed myelination
85476	GFM1	HP:0006799	Basal ganglia cysts
85478	CCDC65	HP:0025177	Peribronchovascular interstitial thickening
85478	CCDC65	HP:0002566	Intestinal malrotation
85478	CCDC65	HP:0001217	Clubbing
85478	CCDC65	HP:0000007	Autosomal recessive inheritance
85478	CCDC65	HP:0002643	Neonatal respiratory distress
85478	CCDC65	HP:0000119	Abnormality of the genitourinary system
85478	CCDC65	HP:0032543	Lithoptysis
85478	CCDC65	HP:0031245	Productive cough
85478	CCDC65	HP:0002011	Morphological central nervous system abnormality
85478	CCDC65	HP:0100582	Nasal polyposis
85478	CCDC65	HP:0002119	Ventriculomegaly
85478	CCDC65	HP:0002110	Bronchiectasis
85478	CCDC65	HP:0008222	Female infertility
85478	CCDC65	HP:0003593	Infantile onset
85478	CCDC65	HP:0002257	Chronic rhinitis
85478	CCDC65	HP:0002205	Recurrent respiratory infections
85478	CCDC65	HP:0100750	Atelectasis
85478	CCDC65	HP:0032016	Abnormal sputum
85478	CCDC65	HP:0011947	Respiratory tract infection
85478	CCDC65	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
85478	CCDC65	HP:0010772	Anomalous pulmonary venous return
85478	CCDC65	HP:0030680	Abnormality of cardiovascular system morphology
85478	CCDC65	HP:0000750	Delayed speech and language development
85478	CCDC65	HP:0000924	Abnormality of the skeletal system
85478	CCDC65	HP:0004469	Chronic bronchitis
85478	CCDC65	HP:0011539	Atrial situs ambiguous
85478	CCDC65	HP:0011535	Abnormal atrial arrangement
85478	CCDC65	HP:0030828	Wheezing
85478	CCDC65	HP:0003251	Male infertility
85478	CCDC65	HP:0011617	Pulmonary situs ambiguus
85478	CCDC65	HP:0033036	Decreased nasal nitric oxide
85478	CCDC65	HP:0025576	Abnormal inferior vena cava morphology
85478	CCDC65	HP:0012265	Ciliary dyskinesia
85478	CCDC65	HP:0000238	Hydrocephalus
85478	CCDC65	HP:0012206	Abnormal sperm motility
85478	CCDC65	HP:0002878	Respiratory failure
85478	CCDC65	HP:0012384	Rhinitis
85478	CCDC65	HP:0000389	Chronic otitis media
85478	CCDC65	HP:0006536	Airway obstruction
85478	CCDC65	HP:0001696	Situs inversus totalis
85478	CCDC65	HP:0000365	Hearing impairment
85478	CCDC65	HP:0001669	Transposition of the great arteries
85478	CCDC65	HP:0031456	Ectopic pregnancy
85478	CCDC65	HP:0001627	Abnormal heart morphology
85478	CCDC65	HP:0005301	Persistent left superior vena cava
85478	CCDC65	HP:0000403	Recurrent otitis media
85478	CCDC65	HP:0000405	Conductive hearing impairment
85478	CCDC65	HP:0001719	Double outlet right ventricle
85478	CCDC65	HP:0011109	Chronic sinusitis
85478	CCDC65	HP:0011108	Recurrent sinusitis
85478	CCDC65	HP:0001746	Asplenia
85478	CCDC65	HP:0001748	Polysplenia
85478	CCDC65	HP:0001742	Nasal congestion
85478	CCDC65	HP:0005425	Recurrent sinopulmonary infections
85478	CCDC65	HP:0011274	Recurrent mycobacterial infections
85478	CCDC65	HP:0000510	Rod-cone dystrophy
86614	HSFY1	HP:0000027	Azoospermia
86614	HSFY1	HP:0001450	Y-linked inheritance
86614	HSFY1	HP:0011462	Young adult onset
86614	HSFY1	HP:0003251	Male infertility
87178	PNPT1	HP:0002490	Increased CSF lactate
87178	PNPT1	HP:0002464	Spastic dysarthria
87178	PNPT1	HP:0002451	Limb dystonia
87178	PNPT1	HP:0007328	Impaired pain sensation
87178	PNPT1	HP:0002421	Poor head control
87178	PNPT1	HP:0002415	Leukodystrophy
87178	PNPT1	HP:0001298	Encephalopathy
87178	PNPT1	HP:0001290	Generalized hypotonia
87178	PNPT1	HP:0001272	Cerebellar atrophy
87178	PNPT1	HP:0001273	Abnormal corpus callosum morphology
87178	PNPT1	HP:0001251	Ataxia
87178	PNPT1	HP:0001265	Hyporeflexia
87178	PNPT1	HP:0001266	Choreoathetosis
87178	PNPT1	HP:0001260	Dysarthria
87178	PNPT1	HP:0002574	Episodic abdominal pain
87178	PNPT1	HP:0010994	Abnormal corpus striatum morphology
87178	PNPT1	HP:0002522	Areflexia of lower limbs
87178	PNPT1	HP:0002500	Abnormal cerebral white matter morphology
87178	PNPT1	HP:0003803	Type 1 muscle fiber predominance
87178	PNPT1	HP:0008872	Feeding difficulties in infancy
87178	PNPT1	HP:0001332	Dystonia
87178	PNPT1	HP:0001324	Muscle weakness
87178	PNPT1	HP:0001344	Absent speech
87178	PNPT1	HP:0000012	Urinary urgency
87178	PNPT1	HP:0000007	Autosomal recessive inheritance
87178	PNPT1	HP:0000006	Autosomal dominant inheritance
87178	PNPT1	HP:0002650	Scoliosis
87178	PNPT1	HP:0007663	Reduced visual acuity
87178	PNPT1	HP:0008936	Axial hypotonia
87178	PNPT1	HP:0002013	Vomiting
87178	PNPT1	HP:0100543	Cognitive impairment
87178	PNPT1	HP:0002066	Gait ataxia
87178	PNPT1	HP:0002073	Progressive cerebellar ataxia
87178	PNPT1	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
87178	PNPT1	HP:0003380	Decreased number of peripheral myelinated nerve fibers
87178	PNPT1	HP:0003487	Babinski sign
87178	PNPT1	HP:0002151	Increased serum lactate
87178	PNPT1	HP:0002134	Abnormal basal ganglia morphology
87178	PNPT1	HP:0003445	EMG: neuropathic changes
87178	PNPT1	HP:0003593	Infantile onset
87178	PNPT1	HP:0003554	Type 2 muscle fiber atrophy
87178	PNPT1	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
87178	PNPT1	HP:0200125	Mitochondrial respiratory chain defects
87178	PNPT1	HP:0011968	Feeding difficulties
87178	PNPT1	HP:0007069	Profound static encephalopathy
87178	PNPT1	HP:0100660	Dyskinesia
87178	PNPT1	HP:0002310	Orofacial dyskinesia
87178	PNPT1	HP:0006829	Severe muscular hypotonia
87178	PNPT1	HP:0006895	Lower limb hypertonia
87178	PNPT1	HP:0000639	Nystagmus
87178	PNPT1	HP:0000657	Oculomotor apraxia
87178	PNPT1	HP:0006944	Abolished vibration sense
87178	PNPT1	HP:0006937	Impaired distal tactile sensation
87178	PNPT1	HP:0000763	Sensory neuropathy
87178	PNPT1	HP:0000762	Decreased nerve conduction velocity
87178	PNPT1	HP:0011468	Facial tics
87178	PNPT1	HP:0011471	Gastrostomy tube feeding in infancy
87178	PNPT1	HP:0011463	Childhood onset
87178	PNPT1	HP:0040204	Elevated CSF neopterin level
87178	PNPT1	HP:0003202	Skeletal muscle atrophy
87178	PNPT1	HP:0003273	Hip contracture
87178	PNPT1	HP:0100275	Diffuse cerebellar atrophy
87178	PNPT1	HP:0006466	Ankle flexion contracture
87178	PNPT1	HP:0001508	Failure to thrive
87178	PNPT1	HP:0001511	Intrauterine growth retardation
87178	PNPT1	HP:0001510	Growth delay
87178	PNPT1	HP:0006558	Decreased mitochondrial complex III activity in liver tissue
87178	PNPT1	HP:0002936	Distal sensory impairment
87178	PNPT1	HP:0000365	Hearing impairment
87178	PNPT1	HP:0031422	Abnormal cerebellar cortex morphology
87178	PNPT1	HP:0000317	Facial myokymia
87178	PNPT1	HP:0000407	Sensorineural hearing impairment
87178	PNPT1	HP:0000486	Strabismus
87178	PNPT1	HP:0000496	Abnormality of eye movement
87178	PNPT1	HP:0012448	Delayed myelination
87178	PNPT1	HP:0001751	Abnormal vestibular function
87178	PNPT1	HP:0001761	Pes cavus
87178	PNPT1	HP:0000518	Cataract
87178	PNPT1	HP:0000519	Developmental cataract
87178	PNPT1	HP:0000505	Visual impairment
89765	RSPH1	HP:0025177	Peribronchovascular interstitial thickening
89765	RSPH1	HP:0002566	Intestinal malrotation
89765	RSPH1	HP:0001217	Clubbing
89765	RSPH1	HP:0000007	Autosomal recessive inheritance
89765	RSPH1	HP:0002643	Neonatal respiratory distress
89765	RSPH1	HP:0000119	Abnormality of the genitourinary system
89765	RSPH1	HP:0032543	Lithoptysis
89765	RSPH1	HP:0031245	Productive cough
89765	RSPH1	HP:0002011	Morphological central nervous system abnormality
89765	RSPH1	HP:0100582	Nasal polyposis
89765	RSPH1	HP:0002119	Ventriculomegaly
89765	RSPH1	HP:0002110	Bronchiectasis
89765	RSPH1	HP:0008222	Female infertility
89765	RSPH1	HP:0002257	Chronic rhinitis
89765	RSPH1	HP:0100750	Atelectasis
89765	RSPH1	HP:0032016	Abnormal sputum
89765	RSPH1	HP:0011947	Respiratory tract infection
89765	RSPH1	HP:0010772	Anomalous pulmonary venous return
89765	RSPH1	HP:0030680	Abnormality of cardiovascular system morphology
89765	RSPH1	HP:0000750	Delayed speech and language development
89765	RSPH1	HP:0000789	Infertility
89765	RSPH1	HP:0000924	Abnormality of the skeletal system
89765	RSPH1	HP:0011539	Atrial situs ambiguous
89765	RSPH1	HP:0011535	Abnormal atrial arrangement
89765	RSPH1	HP:0030828	Wheezing
89765	RSPH1	HP:0003251	Male infertility
89765	RSPH1	HP:0011617	Pulmonary situs ambiguus
89765	RSPH1	HP:0033036	Decreased nasal nitric oxide
89765	RSPH1	HP:0025576	Abnormal inferior vena cava morphology
89765	RSPH1	HP:0012265	Ciliary dyskinesia
89765	RSPH1	HP:0012263	Immotile cilia
89765	RSPH1	HP:0000238	Hydrocephalus
89765	RSPH1	HP:0012206	Abnormal sperm motility
89765	RSPH1	HP:0002878	Respiratory failure
89765	RSPH1	HP:0006510	Chronic pulmonary obstruction
89765	RSPH1	HP:0000389	Chronic otitis media
89765	RSPH1	HP:0006536	Airway obstruction
89765	RSPH1	HP:0001696	Situs inversus totalis
89765	RSPH1	HP:0000365	Hearing impairment
89765	RSPH1	HP:0001669	Transposition of the great arteries
89765	RSPH1	HP:0031456	Ectopic pregnancy
89765	RSPH1	HP:0001627	Abnormal heart morphology
89765	RSPH1	HP:0005301	Persistent left superior vena cava
89765	RSPH1	HP:0000403	Recurrent otitis media
89765	RSPH1	HP:0000405	Conductive hearing impairment
89765	RSPH1	HP:0001719	Double outlet right ventricle
89765	RSPH1	HP:0011109	Chronic sinusitis
89765	RSPH1	HP:0011108	Recurrent sinusitis
89765	RSPH1	HP:0001746	Asplenia
89765	RSPH1	HP:0001748	Polysplenia
89765	RSPH1	HP:0001742	Nasal congestion
89765	RSPH1	HP:0005425	Recurrent sinopulmonary infections
89765	RSPH1	HP:0011274	Recurrent mycobacterial infections
89765	RSPH1	HP:0000510	Rod-cone dystrophy
89780	WNT3A	HP:0001288	Gait disturbance
89780	WNT3A	HP:0002653	Bone pain
89780	WNT3A	HP:0002757	Recurrent fractures
89780	WNT3A	HP:0000939	Osteoporosis
89780	WNT3A	HP:0002808	Kyphosis
89780	WNT3A	HP:0002953	Vertebral compression fracture
89781	HPS4	HP:0001107	Ocular albinism
89781	HPS4	HP:0000007	Autosomal recessive inheritance
89781	HPS4	HP:0007663	Reduced visual acuity
89781	HPS4	HP:0000132	Menorrhagia
89781	HPS4	HP:0002091	Restrictive ventilatory defect
89781	HPS4	HP:0033263	Absent platelet dense granules
89781	HPS4	HP:0002206	Pulmonary fibrosis
89781	HPS4	HP:0001022	Albinism
89781	HPS4	HP:0000666	Horizontal nystagmus
89781	HPS4	HP:0000978	Bruising susceptibility
89781	HPS4	HP:0007750	Hypoplasia of the fovea
89781	HPS4	HP:0000421	Epistaxis
89781	HPS4	HP:0001892	Abnormal bleeding
89869	PLCZ1	HP:0000007	Autosomal recessive inheritance
89869	PLCZ1	HP:0011462	Young adult onset
89869	PLCZ1	HP:0003251	Male infertility
89874	SLC25A21	HP:0002460	Distal muscle weakness
89874	SLC25A21	HP:0003701	Proximal muscle weakness
89874	SLC25A21	HP:0001284	Areflexia
89874	SLC25A21	HP:0002527	Falls
89874	SLC25A21	HP:0032341	Reduced forced vital capacity
89874	SLC25A21	HP:0000007	Autosomal recessive inheritance
89874	SLC25A21	HP:0001308	Tongue fasciculations
89874	SLC25A21	HP:0002650	Scoliosis
89874	SLC25A21	HP:0002169	Clonus
89874	SLC25A21	HP:0003693	Distal amyotrophy
89874	SLC25A21	HP:0003648	Lacticaciduria
89874	SLC25A21	HP:0001935	Microcytic anemia
89874	SLC25A21	HP:0009027	Foot dorsiflexor weakness
89874	SLC25A21	HP:0009130	Hand muscle atrophy
89874	SLC25A21	HP:0040078	Axonal degeneration
89874	SLC25A21	HP:0001508	Failure to thrive
89874	SLC25A21	HP:0030319	Weakness of facial musculature
89876	CFAP91	HP:0033525	Absent sperm axoneme central pair complex
89876	CFAP91	HP:0000007	Autosomal recessive inheritance
89876	CFAP91	HP:0025437	Macrocephalic sperm head
89876	CFAP91	HP:0032558	Absent sperm flagella
89876	CFAP91	HP:0032559	Short sperm flagella
89876	CFAP91	HP:0032560	Coiled sperm flagella
89876	CFAP91	HP:0032561	Microcephalic sperm head
89876	CFAP91	HP:0033393	Irregularly shaped sperm tail
89876	CFAP91	HP:0000798	Oligospermia
89876	CFAP91	HP:0012207	Reduced sperm motility
89884	LHX4	HP:0001161	Hand polydactyly
89884	LHX4	HP:0003799	Marked delay in bone age
89884	LHX4	HP:0009888	Abnormality of secondary sexual hair
89884	LHX4	HP:0001274	Agenesis of corpus callosum
89884	LHX4	HP:0001254	Lethargy
89884	LHX4	HP:0001250	Seizure
89884	LHX4	HP:0001252	Hypotonia
89884	LHX4	HP:0001249	Intellectual disability
89884	LHX4	HP:0001265	Hyporeflexia
89884	LHX4	HP:0001263	Global developmental delay
89884	LHX4	HP:0100842	Septo-optic dysplasia
89884	LHX4	HP:0008734	Decreased testicular size
89884	LHX4	HP:0008736	Hypoplasia of penis
89884	LHX4	HP:0031079	Impaired growth-hormone response to insulin stimulation test
89884	LHX4	HP:0031098	Decreased thyroid-stimulating hormone level
89884	LHX4	HP:0000044	Hypogonadotropic hypogonadism
89884	LHX4	HP:0001360	Holoprosencephaly
89884	LHX4	HP:0000028	Cryptorchidism
89884	LHX4	HP:0008872	Feeding difficulties in infancy
89884	LHX4	HP:0008850	Severe postnatal growth retardation
89884	LHX4	HP:0008828	Delayed proximal femoral epiphyseal ossification
89884	LHX4	HP:0001331	Absent septum pellucidum
89884	LHX4	HP:0000006	Autosomal dominant inheritance
89884	LHX4	HP:0001317	Abnormal cerebellum morphology
89884	LHX4	HP:0002615	Hypotension
89884	LHX4	HP:0025483	Abnormal circulating thyroglobulin level
89884	LHX4	HP:0000158	Macroglossia
89884	LHX4	HP:0000141	Amenorrhea
89884	LHX4	HP:0031218	Inappropriate antidiuretic hormone secretion
89884	LHX4	HP:0031219	Reduced radioactive iodine uptake
89884	LHX4	HP:0002750	Delayed skeletal maturation
89884	LHX4	HP:0002019	Constipation
89884	LHX4	HP:0005990	Thyroid hypoplasia
89884	LHX4	HP:0004637	Decreased cervical spine mobility
89884	LHX4	HP:0011800	Midface retrusion
89884	LHX4	HP:0002045	Hypothermia
89884	LHX4	HP:0010442	Polydactyly
89884	LHX4	HP:0011755	Ectopic posterior pituitary
89884	LHX4	HP:0005930	Abnormal epiphysis morphology
89884	LHX4	HP:0008187	Absence of secondary sex characteristics
89884	LHX4	HP:0008245	Pituitary hypothyroidism
89884	LHX4	HP:0010538	Small sella turcica
89884	LHX4	HP:0008202	Reduced circulating prolactin concentration
89884	LHX4	HP:0010627	Anterior pituitary hypoplasia
89884	LHX4	HP:0010626	Anterior pituitary agenesis
89884	LHX4	HP:0008501	Median cleft lip and palate
89884	LHX4	HP:0001943	Hypoglycemia
89884	LHX4	HP:0000609	Optic nerve hypoplasia
89884	LHX4	HP:0011344	Severe global developmental delay
89884	LHX4	HP:0001999	Abnormal facial shape
89884	LHX4	HP:0004322	Short stature
89884	LHX4	HP:0005625	Osteoporosis of vertebrae
89884	LHX4	HP:0012731	Ectopic anterior pituitary gland
89884	LHX4	HP:0011437	Maternal autoimmune disease
89884	LHX4	HP:0012758	Neurodevelopmental delay
89884	LHX4	HP:0000789	Infertility
89884	LHX4	HP:0000786	Primary amenorrhea
89884	LHX4	HP:0004491	Large posterior fontanelle
89884	LHX4	HP:0000873	Diabetes insipidus
89884	LHX4	HP:0000871	Panhypopituitarism
89884	LHX4	HP:0000864	Abnormality of the hypothalamus-pituitary axis
89884	LHX4	HP:0000839	Pituitary dwarfism
89884	LHX4	HP:0000835	Adrenal hypoplasia
89884	LHX4	HP:0000846	Adrenal insufficiency
89884	LHX4	HP:0000821	Hypothyroidism
89884	LHX4	HP:0000824	Decreased response to growth hormone stimulation test
89884	LHX4	HP:0000823	Delayed puberty
89884	LHX4	HP:0040075	Hypopituitarism
89884	LHX4	HP:0040086	Abnormal prolactin level
89884	LHX4	HP:0010311	Aplasia/Hypoplasia of the breasts
89884	LHX4	HP:0000938	Osteopenia
89884	LHX4	HP:0009381	Short finger
89884	LHX4	HP:0000282	Facial edema
89884	LHX4	HP:0000270	Delayed cranial suture closure
89884	LHX4	HP:0025502	Overweight
89884	LHX4	HP:0001522	Death in infancy
89884	LHX4	HP:0001537	Umbilical hernia
89884	LHX4	HP:0001508	Failure to thrive
89884	LHX4	HP:0001510	Growth delay
89884	LHX4	HP:0031507	Decreased circulating T4 concentration
89884	LHX4	HP:0012378	Fatigue
89884	LHX4	HP:0006579	Prolonged neonatal jaundice
89884	LHX4	HP:0002920	Decreased circulating ACTH level
89884	LHX4	HP:0001662	Bradycardia
89884	LHX4	HP:0000407	Sensorineural hearing impairment
89884	LHX4	HP:0005280	Depressed nasal bridge
89884	LHX4	HP:0000478	Abnormality of the eye
89884	LHX4	HP:0000457	Depressed nasal ridge
89884	LHX4	HP:0000470	Short neck
89884	LHX4	HP:0011297	Abnormal digit morphology
89884	LHX4	HP:0030344	Decreased circulating luteinizing hormone level
89884	LHX4	HP:0030341	Decreased circulating follicle stimulating hormone concentration
89884	LHX4	HP:0011220	Prominent forehead
89891	DYNC2I2	HP:0001177	Preaxial hand polydactyly
89891	DYNC2I2	HP:0001156	Brachydactyly
89891	DYNC2I2	HP:0001162	Postaxial hand polydactyly
89891	DYNC2I2	HP:0003762	Uterus didelphys
89891	DYNC2I2	HP:0001274	Agenesis of corpus callosum
89891	DYNC2I2	HP:0008736	Hypoplasia of penis
89891	DYNC2I2	HP:0008716	Urethrovaginal fistula
89891	DYNC2I2	HP:0000089	Renal hypoplasia
89891	DYNC2I2	HP:0000083	Renal insufficiency
89891	DYNC2I2	HP:0000090	Nephronophthisis
89891	DYNC2I2	HP:0000062	Ambiguous genitalia
89891	DYNC2I2	HP:0001392	Abnormality of the liver
89891	DYNC2I2	HP:0000028	Cryptorchidism
89891	DYNC2I2	HP:0008873	Disproportionate short-limb short stature
89891	DYNC2I2	HP:0008872	Feeding difficulties in infancy
89891	DYNC2I2	HP:0000007	Autosomal recessive inheritance
89891	DYNC2I2	HP:0001305	Dandy-Walker malformation
89891	DYNC2I2	HP:0002652	Skeletal dysplasia
89891	DYNC2I2	HP:0001321	Cerebellar hypoplasia
89891	DYNC2I2	HP:0002644	Abnormal pelvic girdle bone morphology
89891	DYNC2I2	HP:0002612	Congenital hepatic fibrosis
89891	DYNC2I2	HP:0000121	Nephrocalcinosis
89891	DYNC2I2	HP:0000126	Hydronephrosis
89891	DYNC2I2	HP:0000112	Nephropathy
89891	DYNC2I2	HP:0000107	Renal cyst
89891	DYNC2I2	HP:0002023	Anal atresia
89891	DYNC2I2	HP:0002032	Esophageal atresia
89891	DYNC2I2	HP:0002007	Frontal bossing
89891	DYNC2I2	HP:0002006	Facial cleft
89891	DYNC2I2	HP:0002089	Pulmonary hypoplasia
89891	DYNC2I2	HP:0002093	Respiratory insufficiency
89891	DYNC2I2	HP:0002119	Ventriculomegaly
89891	DYNC2I2	HP:0010564	Bifid epiglottis
89891	DYNC2I2	HP:0010579	Cone-shaped epiphysis
89891	DYNC2I2	HP:0002205	Recurrent respiratory infections
89891	DYNC2I2	HP:0004279	Short palm
89891	DYNC2I2	HP:0004322	Short stature
89891	DYNC2I2	HP:0030680	Abnormality of cardiovascular system morphology
89891	DYNC2I2	HP:0004397	Ectopic anus
89891	DYNC2I2	HP:0003026	Short long bone
89891	DYNC2I2	HP:0009106	Abnormal pelvis bone ossification
89891	DYNC2I2	HP:0000772	Abnormal rib morphology
89891	DYNC2I2	HP:0000766	Abnormal sternum morphology
89891	DYNC2I2	HP:0000750	Delayed speech and language development
89891	DYNC2I2	HP:0000774	Narrow chest
89891	DYNC2I2	HP:0000773	Short ribs
89891	DYNC2I2	HP:0005716	Lethal skeletal dysplasia
89891	DYNC2I2	HP:0000888	Horizontal ribs
89891	DYNC2I2	HP:0000889	Abnormal clavicle morphology
89891	DYNC2I2	HP:0010297	Bifid tongue
89891	DYNC2I2	HP:0000895	Lateral clavicle hook
89891	DYNC2I2	HP:0003270	Abdominal distention
89891	DYNC2I2	HP:0004599	Absent or minimally ossified vertebral bodies
89891	DYNC2I2	HP:0100259	Postaxial polydactyly
89891	DYNC2I2	HP:0010306	Short thorax
89891	DYNC2I2	HP:0000944	Abnormal metaphysis morphology
89891	DYNC2I2	HP:0007703	Abnormality of retinal pigmentation
89891	DYNC2I2	HP:0000286	Epicanthus
89891	DYNC2I2	HP:0001591	Bell-shaped thorax
89891	DYNC2I2	HP:0000256	Macrocephaly
89891	DYNC2I2	HP:0001561	Polyhydramnios
89891	DYNC2I2	HP:0001539	Omphalocele
89891	DYNC2I2	HP:0000204	Cleft upper lip
89891	DYNC2I2	HP:0001513	Obesity
89891	DYNC2I2	HP:0000343	Long philtrum
89891	DYNC2I2	HP:0000347	Micrognathia
89891	DYNC2I2	HP:0002983	Micromelia
89891	DYNC2I2	HP:0006644	Thoracic dysplasia
89891	DYNC2I2	HP:0005280	Depressed nasal bridge
89891	DYNC2I2	HP:0001789	Hydrops fetalis
89891	DYNC2I2	HP:0001770	Toe syndactyly
89891	DYNC2I2	HP:0001773	Short foot
89891	DYNC2I2	HP:0000445	Wide nose
89891	DYNC2I2	HP:0006703	Aplasia/Hypoplasia of the lungs
89891	DYNC2I2	HP:0000518	Cataract
89891	DYNC2I2	HP:0000510	Rod-cone dystrophy
89891	DYNC2I2	HP:0001830	Postaxial foot polydactyly
89910	UBE3B	HP:0001166	Arachnodactyly
89910	UBE3B	HP:0001135	Chorioretinal dystrophy
89910	UBE3B	HP:0001139	Choroideremia
89910	UBE3B	HP:0010864	Intellectual disability, severe
89910	UBE3B	HP:0001290	Generalized hypotonia
89910	UBE3B	HP:0001270	Motor delay
89910	UBE3B	HP:0001252	Hypotonia
89910	UBE3B	HP:0001249	Intellectual disability
89910	UBE3B	HP:0001263	Global developmental delay
89910	UBE3B	HP:0002566	Intestinal malrotation
89910	UBE3B	HP:0008665	Clitoral hypertrophy
89910	UBE3B	HP:0000059	Hypoplastic labia majora
89910	UBE3B	HP:0001374	Congenital hip dislocation
89910	UBE3B	HP:0008872	Feeding difficulties in infancy
89910	UBE3B	HP:0001328	Specific learning disability
89910	UBE3B	HP:0001344	Absent speech
89910	UBE3B	HP:0000007	Autosomal recessive inheritance
89910	UBE3B	HP:0002643	Neonatal respiratory distress
89910	UBE3B	HP:0000160	Narrow mouth
89910	UBE3B	HP:0000159	Abnormal lip morphology
89910	UBE3B	HP:0000177	Abnormal upper lip morphology
89910	UBE3B	HP:0000154	Wide mouth
89910	UBE3B	HP:0008936	Axial hypotonia
89910	UBE3B	HP:0002705	High, narrow palate
89910	UBE3B	HP:0002719	Recurrent infections
89910	UBE3B	HP:0002019	Constipation
89910	UBE3B	HP:0003300	Ovoid vertebral bodies
89910	UBE3B	HP:0002098	Respiratory distress
89910	UBE3B	HP:0002094	Dyspnea
89910	UBE3B	HP:0002079	Hypoplasia of the corpus callosum
89910	UBE3B	HP:0002119	Ventriculomegaly
89910	UBE3B	HP:0010547	Muscle flaccidity
89910	UBE3B	HP:0003577	Congenital onset
89910	UBE3B	HP:0002223	Absent eyebrow
89910	UBE3B	HP:0011968	Feeding difficulties
89910	UBE3B	HP:0004209	Clinodactyly of the 5th finger
89910	UBE3B	HP:0004283	Narrow palm
89910	UBE3B	HP:0000639	Nystagmus
89910	UBE3B	HP:0000648	Optic atrophy
89910	UBE3B	HP:0000699	Diastema
89910	UBE3B	HP:0000691	Microdontia
89910	UBE3B	HP:0000670	Carious teeth
89910	UBE3B	HP:0011302	Long palm
89910	UBE3B	HP:0004322	Short stature
89910	UBE3B	HP:0012745	Short palpebral fissure
89910	UBE3B	HP:0003196	Short nose
89910	UBE3B	HP:0003146	Hypocholesterolemia
89910	UBE3B	HP:0045075	Sparse eyebrow
89910	UBE3B	HP:0045074	Thin eyebrow
89910	UBE3B	HP:0000954	Single transverse palmar crease
89910	UBE3B	HP:0000963	Thin skin
89910	UBE3B	HP:0008070	Sparse hair
89910	UBE3B	HP:0000286	Epicanthus
89910	UBE3B	HP:0000278	Retrognathia
89910	UBE3B	HP:0001591	Bell-shaped thorax
89910	UBE3B	HP:0000275	Narrow face
89910	UBE3B	HP:0000276	Long face
89910	UBE3B	HP:0000252	Microcephaly
89910	UBE3B	HP:0000248	Brachycephaly
89910	UBE3B	HP:0000219	Thin upper lip vermilion
89910	UBE3B	HP:0002878	Respiratory failure
89910	UBE3B	HP:0000218	High palate
89910	UBE3B	HP:0000233	Thin vermilion border
89910	UBE3B	HP:0001508	Failure to thrive
89910	UBE3B	HP:0001510	Growth delay
89910	UBE3B	HP:0006511	Laryngeal stridor
89910	UBE3B	HP:0000384	Preauricular skin tag
89910	UBE3B	HP:0000377	Abnormal pinna morphology
89910	UBE3B	HP:0001601	Laryngomalacia
89910	UBE3B	HP:0000369	Low-set ears
89910	UBE3B	HP:0001680	Coarctation of aorta
89910	UBE3B	HP:0000347	Micrognathia
89910	UBE3B	HP:0000319	Smooth philtrum
89910	UBE3B	HP:0000316	Hypertelorism
89910	UBE3B	HP:0000322	Short philtrum
89910	UBE3B	HP:0001629	Ventricular septal defect
89910	UBE3B	HP:0001631	Atrial septal defect
89910	UBE3B	HP:0005280	Depressed nasal bridge
89910	UBE3B	HP:0000483	Astigmatism
89910	UBE3B	HP:0000486	Strabismus
89910	UBE3B	HP:0000482	Microcornea
89910	UBE3B	HP:0000463	Anteverted nares
89910	UBE3B	HP:0005469	Flat occiput
89910	UBE3B	HP:0001840	Metatarsus adductus
89910	UBE3B	HP:0000506	Telecanthus
89910	UBE3B	HP:0000508	Ptosis
89910	UBE3B	HP:0001833	Long foot
89910	UBE3B	HP:0000582	Upslanted palpebral fissure
89910	UBE3B	HP:0000581	Blepharophimosis
89910	UBE3B	HP:0000587	Abnormal optic nerve morphology
89910	UBE3B	HP:0000543	Optic disc pallor
89910	UBE3B	HP:0000545	Myopia
89970	RSPRY1	HP:0001156	Brachydactyly
89970	RSPRY1	HP:0008551	Microtia
89970	RSPRY1	HP:0001290	Generalized hypotonia
89970	RSPRY1	HP:0001270	Motor delay
89970	RSPRY1	HP:0001256	Intellectual disability, mild
89970	RSPRY1	HP:0001249	Intellectual disability
89970	RSPRY1	HP:0100864	Short femoral neck
89970	RSPRY1	HP:0008812	Flattened femoral head
89970	RSPRY1	HP:0001377	Limited elbow extension
89970	RSPRY1	HP:0002678	Skull asymmetry
89970	RSPRY1	HP:0002677	Small foramen magnum
89970	RSPRY1	HP:0001363	Craniosynostosis
89970	RSPRY1	HP:0000007	Autosomal recessive inheritance
89970	RSPRY1	HP:0002650	Scoliosis
89970	RSPRY1	HP:0002651	Spondyloepimetaphyseal dysplasia
89970	RSPRY1	HP:0000164	Abnormality of the dentition
89970	RSPRY1	HP:0001498	Carpal bone hypoplasia
89970	RSPRY1	HP:0002751	Kyphoscoliosis
89970	RSPRY1	HP:0002750	Delayed skeletal maturation
89970	RSPRY1	HP:0004689	Short fourth metatarsal
89970	RSPRY1	HP:0002007	Frontal bossing
89970	RSPRY1	HP:0003307	Hyperlordosis
89970	RSPRY1	HP:0002079	Hypoplasia of the corpus callosum
89970	RSPRY1	HP:0040261	Increased size of nasopharyngeal adenoids
89970	RSPRY1	HP:0010585	Small epiphyses
89970	RSPRY1	HP:0010579	Cone-shaped epiphysis
89970	RSPRY1	HP:0003593	Infantile onset
89970	RSPRY1	HP:0003521	Disproportionate short-trunk short stature
89970	RSPRY1	HP:0002342	Intellectual disability, moderate
89970	RSPRY1	HP:0002355	Difficulty walking
89970	RSPRY1	HP:0010804	Tented upper lip vermilion
89970	RSPRY1	HP:0004209	Clinodactyly of the 5th finger
89970	RSPRY1	HP:0006863	Severe expressive language delay
89970	RSPRY1	HP:0004279	Short palm
89970	RSPRY1	HP:0010049	Short metacarpal
89970	RSPRY1	HP:0004322	Short stature
89970	RSPRY1	HP:0005639	Hyperextensible hand joints
89970	RSPRY1	HP:0003026	Short long bone
89970	RSPRY1	HP:0000766	Abnormal sternum morphology
89970	RSPRY1	HP:0000750	Delayed speech and language development
89970	RSPRY1	HP:0000729	Autistic behavior
89970	RSPRY1	HP:0003100	Slender long bone
89970	RSPRY1	HP:0003196	Short nose
89970	RSPRY1	HP:0000926	Platyspondyly
89970	RSPRY1	HP:0004568	Beaking of vertebral bodies
89970	RSPRY1	HP:0003275	Narrow pelvis bone
89970	RSPRY1	HP:0003272	Abnormal hip bone morphology
89970	RSPRY1	HP:0004592	Thoracic platyspondyly
89970	RSPRY1	HP:0000938	Osteopenia
89970	RSPRY1	HP:0000286	Epicanthus
89970	RSPRY1	HP:0000272	Malar flattening
89970	RSPRY1	HP:0006461	Proximal femoral epiphysiolysis
89970	RSPRY1	HP:0005096	Distal femoral bowing
89970	RSPRY1	HP:0002815	Abnormality of the knee
89970	RSPRY1	HP:0002812	Coxa vara
89970	RSPRY1	HP:0000252	Microcephaly
89970	RSPRY1	HP:0002857	Genu valgum
89970	RSPRY1	HP:0002944	Thoracolumbar scoliosis
89970	RSPRY1	HP:0000369	Low-set ears
89970	RSPRY1	HP:0002980	Femoral bowing
89970	RSPRY1	HP:0000316	Hypertelorism
89970	RSPRY1	HP:0001643	Patent ductus arteriosus
89970	RSPRY1	HP:0001653	Mitral regurgitation
89970	RSPRY1	HP:0001655	Patent foramen ovale
89970	RSPRY1	HP:0002967	Cubitus valgus
89970	RSPRY1	HP:0005280	Depressed nasal bridge
89970	RSPRY1	HP:0000486	Strabismus
89970	RSPRY1	HP:0012471	Thick vermilion border
89970	RSPRY1	HP:0001788	Premature rupture of membranes
89970	RSPRY1	HP:0000470	Short neck
89970	RSPRY1	HP:0012428	Prominent calcaneus
89970	RSPRY1	HP:0001763	Pes planus
89970	RSPRY1	HP:0001761	Pes cavus
89970	RSPRY1	HP:0030293	Fibular metaphyseal irregularity
89970	RSPRY1	HP:0030292	Tibial metaphyseal irregularity
89970	RSPRY1	HP:0030427	Ossifying fibroma of the jaw
89970	RSPRY1	HP:0001845	Overlapping toe
89970	RSPRY1	HP:0000520	Proptosis
89970	RSPRY1	HP:0001838	Rocker bottom foot
89970	RSPRY1	HP:0000508	Ptosis
89970	RSPRY1	HP:0000598	Abnormality of the ear
89970	RSPRY1	HP:0001863	Toe clinodactyly
90121	TSR2	HP:0009944	Partial duplication of thumb phalanx
90121	TSR2	HP:0001199	Triphalangeal thumb
90121	TSR2	HP:0008551	Microtia
90121	TSR2	HP:0001254	Lethargy
90121	TSR2	HP:0001227	Abnormality of the thenar eminence
90121	TSR2	HP:0000085	Horseshoe kidney
90121	TSR2	HP:0000047	Hypospadias
90121	TSR2	HP:0002669	Osteosarcoma
90121	TSR2	HP:0000185	Cleft soft palate
90121	TSR2	HP:0000175	Cleft palate
90121	TSR2	HP:0012133	Erythroid hypoplasia
90121	TSR2	HP:0410030	Cleft lip
90121	TSR2	HP:0000119	Abnormality of the genitourinary system
90121	TSR2	HP:0000104	Renal agenesis
90121	TSR2	HP:0001419	X-linked recessive inheritance
90121	TSR2	HP:0011800	Midface retrusion
90121	TSR2	HP:0040276	Adenocarcinoma of the colon
90121	TSR2	HP:0011904	Persistence of hemoglobin F
90121	TSR2	HP:0003577	Congenital onset
90121	TSR2	HP:0004808	Acute myeloid leukemia
90121	TSR2	HP:0001087	Developmental glaucoma
90121	TSR2	HP:0020118	Radial artery aplasia
90121	TSR2	HP:0009777	Absent thumb
90121	TSR2	HP:0009778	Short thumb
90121	TSR2	HP:0005532	Macrocytic dyserythropoietic anemia
90121	TSR2	HP:0005518	Increased mean corpuscular volume
90121	TSR2	HP:0001972	Macrocytic anemia
90121	TSR2	HP:0000653	Sparse eyelashes
90121	TSR2	HP:0004322	Short stature
90121	TSR2	HP:0012741	Unilateral cryptorchidism
90121	TSR2	HP:0012758	Neurodevelopmental delay
90121	TSR2	HP:0000912	Sprengel anomaly
90121	TSR2	HP:0000980	Pallor
90121	TSR2	HP:0000286	Epicanthus
90121	TSR2	HP:0000294	Low anterior hairline
90121	TSR2	HP:0002817	Abnormality of the upper limb
90121	TSR2	HP:0000234	Abnormality of the head
90121	TSR2	HP:0000252	Microcephaly
90121	TSR2	HP:0000218	High palate
90121	TSR2	HP:0002863	Myelodysplasia
90121	TSR2	HP:0001518	Small for gestational age
90121	TSR2	HP:0001510	Growth delay
90121	TSR2	HP:0000369	Low-set ears
90121	TSR2	HP:0001680	Coarctation of aorta
90121	TSR2	HP:0000347	Micrognathia
90121	TSR2	HP:0000316	Hypertelorism
90121	TSR2	HP:0001629	Ventricular septal defect
90121	TSR2	HP:0001627	Abnormal heart morphology
90121	TSR2	HP:0001631	Atrial septal defect
90121	TSR2	HP:0000405	Conductive hearing impairment
90121	TSR2	HP:0005280	Depressed nasal bridge
90121	TSR2	HP:0000486	Strabismus
90121	TSR2	HP:0000494	Downslanted palpebral fissures
90121	TSR2	HP:0001790	Nonimmune hydrops fetalis
90121	TSR2	HP:0000470	Short neck
90121	TSR2	HP:0000465	Webbed neck
90121	TSR2	HP:0030270	Elevated red cell adenosine deaminase level
90121	TSR2	HP:0012410	Pure red cell aplasia
90121	TSR2	HP:0000413	Atresia of the external auditory canal
90121	TSR2	HP:0000431	Wide nasal bridge
90121	TSR2	HP:0006758	Malignant genitourinary tract tumor
90121	TSR2	HP:0000519	Developmental cataract
90121	TSR2	HP:0000508	Ptosis
90121	TSR2	HP:0001894	Thrombocytosis
90121	TSR2	HP:0001896	Reticulocytopenia
90121	TSR2	HP:0001895	Normochromic anemia
90121	TSR2	HP:0001882	Leukopenia
90121	TSR2	HP:0001873	Thrombocytopenia
90121	TSR2	HP:0001875	Neutropenia
90161	HS6ST2	HP:0002465	Poor speech
90161	HS6ST2	HP:0008551	Microtia
90161	HS6ST2	HP:0001263	Global developmental delay
90161	HS6ST2	HP:0000020	Urinary incontinence
90161	HS6ST2	HP:0001419	X-linked recessive inheritance
90161	HS6ST2	HP:0002714	Downturned corners of mouth
90161	HS6ST2	HP:0003348	Hyperalaninemia
90161	HS6ST2	HP:0002003	Large forehead
90161	HS6ST2	HP:0002151	Increased serum lactate
90161	HS6ST2	HP:0011968	Feeding difficulties
90161	HS6ST2	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
90161	HS6ST2	HP:0006956	Lateral ventricle dilatation
90161	HS6ST2	HP:0031936	Delayed ability to walk
90161	HS6ST2	HP:0000750	Delayed speech and language development
90161	HS6ST2	HP:0011463	Childhood onset
90161	HS6ST2	HP:0000272	Malar flattening
90161	HS6ST2	HP:0032653	Elevated lactate:pyruvate ratio
90161	HS6ST2	HP:0000233	Thin vermilion border
90161	HS6ST2	HP:0000358	Posteriorly rotated ears
90161	HS6ST2	HP:0011003	High myopia
90161	HS6ST2	HP:0000369	Low-set ears
90161	HS6ST2	HP:0000341	Narrow forehead
90161	HS6ST2	HP:0000325	Triangular face
90161	HS6ST2	HP:0000303	Mandibular prognathia
90161	HS6ST2	HP:0000494	Downslanted palpebral fissures
90161	HS6ST2	HP:0000490	Deeply set eye
90167	FRMD7	HP:0012043	Pendular nystagmus
90167	FRMD7	HP:0007663	Reduced visual acuity
90167	FRMD7	HP:0001417	X-linked inheritance
90167	FRMD7	HP:0003593	Infantile onset
90167	FRMD7	HP:0032037	Mildly reduced visual acuity
90167	FRMD7	HP:0000666	Horizontal nystagmus
90167	FRMD7	HP:0006934	Congenital nystagmus
90268	OTULIN	HP:0032219	Increased proportion of CD4-positive T cells
90268	OTULIN	HP:0003829	Typified by incomplete penetrance
90268	OTULIN	HP:0001386	Joint swelling
90268	OTULIN	HP:0000007	Autosomal recessive inheritance
90268	OTULIN	HP:0000006	Autosomal dominant inheritance
90268	OTULIN	HP:0002633	Vasculitis
90268	OTULIN	HP:0025452	Pyoderma gangrenosum
90268	OTULIN	HP:0031292	Cutaneous abscess
90268	OTULIN	HP:0002716	Lymphadenopathy
90268	OTULIN	HP:0002721	Immunodeficiency
90268	OTULIN	HP:0002027	Abdominal pain
90268	OTULIN	HP:0002028	Chronic diarrhea
90268	OTULIN	HP:0003326	Myalgia
90268	OTULIN	HP:0002014	Diarrhea
90268	OTULIN	HP:0003496	Increased circulating IgM level
90268	OTULIN	HP:0011897	Neutrophilia
90268	OTULIN	HP:0003593	Infantile onset
90268	OTULIN	HP:0003621	Juvenile onset
90268	OTULIN	HP:0001974	Leukocytosis
90268	OTULIN	HP:0001954	Recurrent fever
90268	OTULIN	HP:0009125	Lipodystrophy
90268	OTULIN	HP:0003261	Increased circulating IgA level
90268	OTULIN	HP:0000988	Skin rash
90268	OTULIN	HP:0002829	Arthralgia
90268	OTULIN	HP:0001531	Failure to thrive in infancy
90268	OTULIN	HP:0012490	Panniculitis
90268	OTULIN	HP:0011132	Chronic furunculosis
90268	OTULIN	HP:0011227	Elevated circulating C-reactive protein concentration
90411	MCFD2	HP:0000007	Autosomal recessive inheritance
90411	MCFD2	HP:0006298	Prolonged bleeding after dental extraction
90411	MCFD2	HP:0000132	Menorrhagia
90411	MCFD2	HP:0008151	Prolonged prothrombin time
90411	MCFD2	HP:0002149	Hyperuricemia
90411	MCFD2	HP:0002170	Intracranial hemorrhage
90411	MCFD2	HP:0011889	Bleeding with minor or no trauma
90411	MCFD2	HP:0002239	Gastrointestinal hemorrhage
90411	MCFD2	HP:0004846	Prolonged bleeding after surgery
90411	MCFD2	HP:0003645	Prolonged partial thromboplastin time
90411	MCFD2	HP:0001934	Persistent bleeding after trauma
90411	MCFD2	HP:0003077	Hyperlipidemia
90411	MCFD2	HP:0000790	Hematuria
90411	MCFD2	HP:0003125	Reduced factor VIII activity
90411	MCFD2	HP:0003225	Reduced coagulation factor V activity
90411	MCFD2	HP:0000978	Bruising susceptibility
90411	MCFD2	HP:0000225	Gingival bleeding
90411	MCFD2	HP:0005261	Joint hemorrhage
90411	MCFD2	HP:0030137	Prolonged bleeding following circumcision
90411	MCFD2	HP:0000421	Epistaxis
90416	CCDC32	HP:0001156	Brachydactyly
90416	CCDC32	HP:0001263	Global developmental delay
90416	CCDC32	HP:0000028	Cryptorchidism
90416	CCDC32	HP:0008872	Feeding difficulties in infancy
90416	CCDC32	HP:0007477	Abnormal dermatoglyphics
90416	CCDC32	HP:0000007	Autosomal recessive inheritance
90416	CCDC32	HP:0001320	Cerebellar vermis hypoplasia
90416	CCDC32	HP:0000175	Cleft palate
90416	CCDC32	HP:0410030	Cleft lip
90416	CCDC32	HP:0003363	Abdominal situs inversus
90416	CCDC32	HP:0003577	Congenital onset
90416	CCDC32	HP:0008386	Aplasia/Hypoplasia of the nails
90416	CCDC32	HP:0004209	Clinodactyly of the 5th finger
90416	CCDC32	HP:0000601	Hypotelorism
90416	CCDC32	HP:0002808	Kyphosis
90416	CCDC32	HP:0000252	Microcephaly
90416	CCDC32	HP:0012385	Camptodactyly
90416	CCDC32	HP:0000347	Micrognathia
90416	CCDC32	HP:0000316	Hypertelorism
90416	CCDC32	HP:0001642	Pulmonic stenosis
90416	CCDC32	HP:0001629	Ventricular septal defect
90416	CCDC32	HP:0006695	Atrioventricular canal defect
90416	CCDC32	HP:0001746	Asplenia
90416	CCDC32	HP:0000411	Protruding ear
90416	CCDC32	HP:0000582	Upslanted palpebral fissure
90417	KNSTRN	HP:0003765	Psoriasiform dermatitis
90417	KNSTRN	HP:0009891	Underdeveloped supraorbital ridges
90417	KNSTRN	HP:0002403	Positive Romberg sign
90417	KNSTRN	HP:0001251	Ataxia
90417	KNSTRN	HP:0001249	Intellectual disability
90417	KNSTRN	HP:0001263	Global developmental delay
90417	KNSTRN	HP:0010976	B lymphocytopenia
90417	KNSTRN	HP:0031014	Arteria lusoria
90417	KNSTRN	HP:0000086	Ectopic kidney
90417	KNSTRN	HP:0001369	Arthritis
90417	KNSTRN	HP:0000010	Recurrent urinary tract infections
90417	KNSTRN	HP:0000007	Autosomal recessive inheritance
90417	KNSTRN	HP:0001319	Neonatal hypotonia
90417	KNSTRN	HP:0002643	Neonatal respiratory distress
90417	KNSTRN	HP:0007678	Lacrimal duct stenosis
90417	KNSTRN	HP:0410018	Recurrent ear infections
90417	KNSTRN	HP:0000122	Unilateral renal agenesis
90417	KNSTRN	HP:0002718	Recurrent bacterial infections
90417	KNSTRN	HP:0002020	Gastroesophageal reflux
90417	KNSTRN	HP:0002014	Diarrhea
90417	KNSTRN	HP:0002007	Frontal bossing
90417	KNSTRN	HP:0003307	Hyperlordosis
90417	KNSTRN	HP:0100540	Palpebral edema
90417	KNSTRN	HP:0002080	Intention tremor
90417	KNSTRN	HP:0002090	Pneumonia
90417	KNSTRN	HP:0002058	Myopathic facies
90417	KNSTRN	HP:0040288	Nasogastric tube feeding
90417	KNSTRN	HP:0002123	Generalized myoclonic seizure
90417	KNSTRN	HP:0002119	Ventriculomegaly
90417	KNSTRN	HP:0003460	Decreased circulating total IgA
90417	KNSTRN	HP:0002100	Recurrent aspiration pneumonia
90417	KNSTRN	HP:0002162	Low posterior hairline
90417	KNSTRN	HP:0010579	Cone-shaped epiphysis
90417	KNSTRN	HP:0009650	Short distal phalanx of the thumb
90417	KNSTRN	HP:0100660	Dyskinesia
90417	KNSTRN	HP:0009844	Broad middle phalanx of finger
90417	KNSTRN	HP:0032132	Decreased circulating total IgG
90417	KNSTRN	HP:0032140	Decreased specific antibody response to vaccination
90417	KNSTRN	HP:0010750	Dermatochalasis
90417	KNSTRN	HP:0010743	Short metatarsal
90417	KNSTRN	HP:0009098	Chronic oral candidiasis
90417	KNSTRN	HP:0000648	Optic atrophy
90417	KNSTRN	HP:0000609	Optic nerve hypoplasia
90417	KNSTRN	HP:0010049	Short metacarpal
90417	KNSTRN	HP:0001999	Abnormal facial shape
90417	KNSTRN	HP:0004313	Decreased circulating antibody level
90417	KNSTRN	HP:0004429	Recurrent viral infections
90417	KNSTRN	HP:0004425	Flat forehead
90417	KNSTRN	HP:0000924	Abnormality of the skeletal system
90417	KNSTRN	HP:0040025	Clinodactyly of the 4th finger
90417	KNSTRN	HP:0010282	Thin lower lip vermilion
90417	KNSTRN	HP:0040022	Clinodactyly of the 2nd finger
90417	KNSTRN	HP:0040024	Clinodactyly of the 3rd finger
90417	KNSTRN	HP:0040218	Reduced natural killer cell count
90417	KNSTRN	HP:0000998	Hypertrichosis
90417	KNSTRN	HP:0000953	Hyperpigmentation of the skin
90417	KNSTRN	HP:0000938	Osteopenia
90417	KNSTRN	HP:0025540	Abnormal T cell subset distribution
90417	KNSTRN	HP:0001537	Umbilical hernia
90417	KNSTRN	HP:0002850	Decreased circulating total IgM
90417	KNSTRN	HP:0031381	Decreased lymphocyte proliferation in response to mitogen
90417	KNSTRN	HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3
90417	KNSTRN	HP:0002841	Recurrent fungal infections
90417	KNSTRN	HP:0000348	High forehead
90417	KNSTRN	HP:0000316	Hypertelorism
90417	KNSTRN	HP:0000306	Abnormality of the chin
90417	KNSTRN	HP:0006610	Wide intermamillary distance
90417	KNSTRN	HP:0005387	Combined immunodeficiency
90417	KNSTRN	HP:0005280	Depressed nasal bridge
90417	KNSTRN	HP:0000490	Deeply set eye
90417	KNSTRN	HP:0000463	Anteverted nares
90417	KNSTRN	HP:0000455	Broad nasal tip
90417	KNSTRN	HP:0000470	Short neck
90417	KNSTRN	HP:0000411	Protruding ear
90417	KNSTRN	HP:0000431	Wide nasal bridge
90417	KNSTRN	HP:0001761	Pes cavus
90417	KNSTRN	HP:0005407	Decreased proportion of CD4-positive helper T cells
90522	YIF1B	HP:0002451	Limb dystonia
90522	YIF1B	HP:0001290	Generalized hypotonia
90522	YIF1B	HP:0001272	Cerebellar atrophy
90522	YIF1B	HP:0001250	Seizure
90522	YIF1B	HP:0001263	Global developmental delay
90522	YIF1B	HP:0001257	Spasticity
90522	YIF1B	HP:0002510	Spastic tetraplegia
90522	YIF1B	HP:0008872	Feeding difficulties in infancy
90522	YIF1B	HP:0000007	Autosomal recessive inheritance
90522	YIF1B	HP:0002650	Scoliosis
90522	YIF1B	HP:0008936	Axial hypotonia
90522	YIF1B	HP:0002079	Hypoplasia of the corpus callosum
90522	YIF1B	HP:0002059	Cerebral atrophy
90522	YIF1B	HP:0003429	CNS hypomyelination
90522	YIF1B	HP:0003593	Infantile onset
90522	YIF1B	HP:0003577	Congenital onset
90522	YIF1B	HP:0100704	Cerebral visual impairment
90522	YIF1B	HP:0100660	Dyskinesia
90522	YIF1B	HP:0000737	Irritability
90522	YIF1B	HP:0000750	Delayed speech and language development
90522	YIF1B	HP:0000252	Microcephaly
90522	YIF1B	HP:0001511	Intrauterine growth retardation
90522	YIF1B	HP:0032989	Delayed ability to roll over
90523	MLIP	HP:0003738	Exercise-induced myalgia
90523	MLIP	HP:0003701	Proximal muscle weakness
90523	MLIP	HP:0003713	Muscle fiber necrosis
90523	MLIP	HP:0003710	Exercise-induced muscle cramps
90523	MLIP	HP:0001270	Motor delay
90523	MLIP	HP:0000007	Autosomal recessive inheritance
90523	MLIP	HP:0025435	Increased circulating lactate dehydrogenase concentration
90523	MLIP	HP:0008994	Proximal muscle weakness in lower limbs
90523	MLIP	HP:0008959	Distal upper limb muscle weakness
90523	MLIP	HP:0008967	Exercise-induced muscle stiffness
90523	MLIP	HP:0003593	Infantile onset
90523	MLIP	HP:0003546	Exercise intolerance
90523	MLIP	HP:0003557	Increased variability in muscle fiber diameter
90523	MLIP	HP:0003687	Centrally nucleated skeletal muscle fibers
90523	MLIP	HP:0003621	Juvenile onset
90523	MLIP	HP:0009073	Progressive proximal muscle weakness
90523	MLIP	HP:0011463	Childhood onset
90523	MLIP	HP:0003236	Elevated circulating creatine kinase concentration
90523	MLIP	HP:0003202	Skeletal muscle atrophy
90523	MLIP	HP:0003201	Rhabdomyolysis
90523	MLIP	HP:0003259	Elevated circulating creatinine concentration
90523	MLIP	HP:0100297	Increased endomysial connective tissue
90523	MLIP	HP:0002913	Myoglobinuria
90523	MLIP	HP:0002910	Elevated hepatic transaminase
90624	LYRM7	HP:0002490	Increased CSF lactate
90624	LYRM7	HP:0001298	Encephalopathy
90624	LYRM7	HP:0001290	Generalized hypotonia
90624	LYRM7	HP:0001272	Cerebellar atrophy
90624	LYRM7	HP:0001288	Gait disturbance
90624	LYRM7	HP:0001285	Spastic tetraparesis
90624	LYRM7	HP:0001254	Lethargy
90624	LYRM7	HP:0001251	Ataxia
90624	LYRM7	HP:0001249	Intellectual disability
90624	LYRM7	HP:0001260	Dysarthria
90624	LYRM7	HP:0001263	Global developmental delay
90624	LYRM7	HP:0001257	Spasticity
90624	LYRM7	HP:0001259	Coma
90624	LYRM7	HP:0007366	Atrophy/Degeneration affecting the brainstem
90624	LYRM7	HP:0002518	Abnormal periventricular white matter morphology
90624	LYRM7	HP:0002505	Loss of ambulation
90624	LYRM7	HP:0003819	Death in childhood
90624	LYRM7	HP:0001348	Brisk reflexes
90624	LYRM7	HP:0033725	Thin corpus callosum
90624	LYRM7	HP:0001324	Muscle weakness
90624	LYRM7	HP:0000007	Autosomal recessive inheritance
90624	LYRM7	HP:0008936	Axial hypotonia
90624	LYRM7	HP:0002789	Tachypnea
90624	LYRM7	HP:0003348	Hyperalaninemia
90624	LYRM7	HP:0002059	Cerebral atrophy
90624	LYRM7	HP:0003487	Babinski sign
90624	LYRM7	HP:0002151	Increased serum lactate
90624	LYRM7	HP:0011924	Decreased activity of mitochondrial complex III
90624	LYRM7	HP:0003593	Infantile onset
90624	LYRM7	HP:0002283	Global brain atrophy
90624	LYRM7	HP:0002376	Developmental regression
90624	LYRM7	HP:0003676	Progressive
90624	LYRM7	HP:0003678	Rapidly progressive
90624	LYRM7	HP:0003621	Juvenile onset
90624	LYRM7	HP:0000639	Nystagmus
90624	LYRM7	HP:0001903	Anemia
90624	LYRM7	HP:0012707	Elevated brain lactate level by MRS
90624	LYRM7	HP:0011463	Childhood onset
90624	LYRM7	HP:0003128	Lactic acidosis
90624	LYRM7	HP:0040081	Abnormal circulating creatine kinase concentration
90624	LYRM7	HP:0045045	Elevated circulating acylcarnitine concentration
90624	LYRM7	HP:0002878	Respiratory failure
90624	LYRM7	HP:0001508	Failure to thrive
90624	LYRM7	HP:0000508	Ptosis
90624	LYRM7	HP:0000505	Visual impairment
90624	LYRM7	HP:0000577	Exotropia
90624	LYRM7	HP:0000543	Optic disc pallor
90624	LYRM7	HP:0000544	External ophthalmoplegia
90665	TBL1Y	HP:0001450	Y-linked inheritance
90665	TBL1Y	HP:0000407	Sensorineural hearing impairment
90678	LRSAM1	HP:0002460	Distal muscle weakness
90678	LRSAM1	HP:0001284	Areflexia
90678	LRSAM1	HP:0001265	Hyporeflexia
90678	LRSAM1	HP:0003829	Typified by incomplete penetrance
90678	LRSAM1	HP:0000007	Autosomal recessive inheritance
90678	LRSAM1	HP:0000006	Autosomal dominant inheritance
90678	LRSAM1	HP:0003378	Axonal degeneration/regeneration
90678	LRSAM1	HP:0003376	Steppage gait
90678	LRSAM1	HP:0003431	Decreased motor nerve conduction velocity
90678	LRSAM1	HP:0002380	Fasciculations
90678	LRSAM1	HP:0003693	Distal amyotrophy
90678	LRSAM1	HP:0003677	Slowly progressive
90678	LRSAM1	HP:0006886	Impaired distal vibration sensation
90678	LRSAM1	HP:0009027	Foot dorsiflexor weakness
90678	LRSAM1	HP:0000764	Peripheral axonal degeneration
90678	LRSAM1	HP:0040078	Axonal degeneration
90678	LRSAM1	HP:0030051	Tip-toe gait
90678	LRSAM1	HP:0002936	Distal sensory impairment
90678	LRSAM1	HP:0001765	Hammertoe
90678	LRSAM1	HP:0001761	Pes cavus
90993	CREB3L1	HP:0003863	Angulated humerus
90993	CREB3L1	HP:0001382	Joint hypermobility
90993	CREB3L1	HP:0000007	Autosomal recessive inheritance
90993	CREB3L1	HP:0002645	Wormian bones
90993	CREB3L1	HP:0008905	Rhizomelia
90993	CREB3L1	HP:0002757	Recurrent fractures
90993	CREB3L1	HP:0003577	Congenital onset
90993	CREB3L1	HP:0009804	Tooth agenesis
90993	CREB3L1	HP:0004322	Short stature
90993	CREB3L1	HP:0034198	Second trimester onset
90993	CREB3L1	HP:0003010	Prolonged bleeding time
90993	CREB3L1	HP:0003026	Short long bone
90993	CREB3L1	HP:0003027	Mesomelia
90993	CREB3L1	HP:0000774	Narrow chest
90993	CREB3L1	HP:0000926	Platyspondyly
90993	CREB3L1	HP:0000923	Beaded ribs
90993	CREB3L1	HP:0000978	Bruising susceptibility
90993	CREB3L1	HP:0000938	Osteopenia
90993	CREB3L1	HP:0001518	Small for gestational age
90993	CREB3L1	HP:0006487	Bowing of the long bones
90993	CREB3L1	HP:0000365	Hearing impairment
90993	CREB3L1	HP:0002953	Vertebral compression fracture
90993	CREB3L1	HP:0000308	Microretrognathia
90993	CREB3L1	HP:0006640	Multiple rib fractures
90993	CREB3L1	HP:0000405	Conductive hearing impairment
90993	CREB3L1	HP:0005474	Decreased calvarial ossification
90993	CREB3L1	HP:0000592	Blue sclerae
91039	DPP9	HP:0025175	Honeycomb lung
91039	DPP9	HP:0025179	Ground-glass opacification
91039	DPP9	HP:0025390	Reticular pattern on pulmonary HRCT
91039	DPP9	HP:0002020	Gastroesophageal reflux
91039	DPP9	HP:0010444	Pulmonary insufficiency
91039	DPP9	HP:0002110	Bronchiectasis
91039	DPP9	HP:0002206	Pulmonary fibrosis
91039	DPP9	HP:0100759	Clubbing of fingers
91039	DPP9	HP:0012735	Cough
91039	DPP9	HP:0030830	Crackles
91039	DPP9	HP:0002875	Exertional dyspnea
91039	DPP9	HP:0006530	Abnormal pulmonary interstitial morphology
91057	CCDC34	HP:0008734	Decreased testicular size
91057	CCDC34	HP:0008669	Abnormal spermatogenesis
91057	CCDC34	HP:0000027	Azoospermia
91057	CCDC34	HP:0000007	Autosomal recessive inheritance
91057	CCDC34	HP:0000118	Phenotypic abnormality
91057	CCDC34	HP:0032558	Absent sperm flagella
91057	CCDC34	HP:0032559	Short sperm flagella
91057	CCDC34	HP:0011961	Non-obstructive azoospermia
91057	CCDC34	HP:0011962	Obstructive azoospermia
91057	CCDC34	HP:0033393	Irregularly shaped sperm tail
91057	CCDC34	HP:0011462	Young adult onset
91057	CCDC34	HP:0000798	Oligospermia
91057	CCDC34	HP:0000837	Increased circulating gonadotropin level
91057	CCDC34	HP:0003251	Male infertility
91057	CCDC34	HP:0012207	Reduced sperm motility
91137	SLC25A46	HP:0001182	Tapered finger
91137	SLC25A46	HP:0010851	EEG with burst suppression
91137	SLC25A46	HP:0001290	Generalized hypotonia
91137	SLC25A46	HP:0001276	Hypertonia
91137	SLC25A46	HP:0001272	Cerebellar atrophy
91137	SLC25A46	HP:0001270	Motor delay
91137	SLC25A46	HP:0001284	Areflexia
91137	SLC25A46	HP:0001250	Seizure
91137	SLC25A46	HP:0001252	Hypotonia
91137	SLC25A46	HP:0001251	Ataxia
91137	SLC25A46	HP:0001265	Hyporeflexia
91137	SLC25A46	HP:0001263	Global developmental delay
91137	SLC25A46	HP:0001257	Spasticity
91137	SLC25A46	HP:0007360	Aplasia/Hypoplasia of the cerebellum
91137	SLC25A46	HP:0003828	Variable expressivity
91137	SLC25A46	HP:0001371	Flexion contracture
91137	SLC25A46	HP:0001347	Hyperreflexia
91137	SLC25A46	HP:0033725	Thin corpus callosum
91137	SLC25A46	HP:0001324	Muscle weakness
91137	SLC25A46	HP:0000007	Autosomal recessive inheritance
91137	SLC25A46	HP:0001337	Tremor
91137	SLC25A46	HP:0001336	Myoclonus
91137	SLC25A46	HP:0001310	Dysmetria
91137	SLC25A46	HP:0001308	Tongue fasciculations
91137	SLC25A46	HP:0002650	Scoliosis
91137	SLC25A46	HP:0001321	Cerebellar hypoplasia
91137	SLC25A46	HP:0001319	Neonatal hypotonia
91137	SLC25A46	HP:0000189	Narrow palate
91137	SLC25A46	HP:0012110	Hypoplasia of the pons
91137	SLC25A46	HP:0002080	Intention tremor
91137	SLC25A46	HP:0002066	Gait ataxia
91137	SLC25A46	HP:0003376	Steppage gait
91137	SLC25A46	HP:0003477	Peripheral axonal neuropathy
91137	SLC25A46	HP:0003487	Babinski sign
91137	SLC25A46	HP:0002120	Cerebral cortical atrophy
91137	SLC25A46	HP:0002135	Basal ganglia calcification
91137	SLC25A46	HP:0004886	Congenital laryngeal stridor
91137	SLC25A46	HP:0004887	Respiratory failure requiring assisted ventilation
91137	SLC25A46	HP:0011968	Feeding difficulties
91137	SLC25A46	HP:0002398	Degeneration of anterior horn cells
91137	SLC25A46	HP:0003693	Distal amyotrophy
91137	SLC25A46	HP:0002350	Cerebellar cyst
91137	SLC25A46	HP:0010804	Tented upper lip vermilion
91137	SLC25A46	HP:0007141	Sensorimotor neuropathy
91137	SLC25A46	HP:0000639	Nystagmus
91137	SLC25A46	HP:0000648	Optic atrophy
91137	SLC25A46	HP:0012698	Cerebellar gliosis
91137	SLC25A46	HP:0011344	Severe global developmental delay
91137	SLC25A46	HP:0000750	Delayed speech and language development
91137	SLC25A46	HP:0003186	Inverted nipples
91137	SLC25A46	HP:0003202	Skeletal muscle atrophy
91137	SLC25A46	HP:0002804	Arthrogryposis multiplex congenita
91137	SLC25A46	HP:0006380	Knee flexion contracture
91137	SLC25A46	HP:0000253	Progressive microcephaly
91137	SLC25A46	HP:0002878	Respiratory failure
91137	SLC25A46	HP:0001561	Polyhydramnios
91137	SLC25A46	HP:0001522	Death in infancy
91137	SLC25A46	HP:0001508	Failure to thrive
91137	SLC25A46	HP:0002936	Distal sensory impairment
91137	SLC25A46	HP:0000341	Narrow forehead
91137	SLC25A46	HP:0002987	Elbow flexion contracture
91137	SLC25A46	HP:0000486	Strabismus
91137	SLC25A46	HP:0000463	Anteverted nares
91137	SLC25A46	HP:0000414	Bulbous nose
91137	SLC25A46	HP:0001761	Pes cavus
91137	SLC25A46	HP:0000529	Progressive visual loss
91137	SLC25A46	HP:0000505	Visual impairment
91137	SLC25A46	HP:0000575	Scotoma
91137	SLC25A46	HP:0000577	Exotropia
91137	SLC25A46	HP:0000565	Esotropia
91147	TMEM67	HP:0001177	Preaxial hand polydactyly
91147	TMEM67	HP:0001156	Brachydactyly
91147	TMEM67	HP:0001162	Postaxial hand polydactyly
91147	TMEM67	HP:0001161	Hand polydactyly
91147	TMEM67	HP:0100951	Enlarged fossa interpeduncularis
91147	TMEM67	HP:0003774	Stage 5 chronic kidney disease
91147	TMEM67	HP:0008659	Multiple small medullary renal cysts
91147	TMEM67	HP:0009916	Anisocoria
91147	TMEM67	HP:0002419	Molar tooth sign on MRI
91147	TMEM67	HP:0002404	Thickened superior cerebellar peduncle
91147	TMEM67	HP:0001290	Generalized hypotonia
91147	TMEM67	HP:0001288	Gait disturbance
91147	TMEM67	HP:0001250	Seizure
91147	TMEM67	HP:0001252	Hypotonia
91147	TMEM67	HP:0001251	Ataxia
91147	TMEM67	HP:0001249	Intellectual disability
91147	TMEM67	HP:0001263	Global developmental delay
91147	TMEM67	HP:0001257	Spasticity
91147	TMEM67	HP:0100864	Short femoral neck
91147	TMEM67	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
91147	TMEM67	HP:0007360	Aplasia/Hypoplasia of the cerebellum
91147	TMEM67	HP:0002553	Highly arched eyebrow
91147	TMEM67	HP:0002506	Diffuse cerebral atrophy
91147	TMEM67	HP:0002500	Abnormal cerebral white matter morphology
91147	TMEM67	HP:0000089	Renal hypoplasia
91147	TMEM67	HP:0000083	Renal insufficiency
91147	TMEM67	HP:0000090	Nephronophthisis
91147	TMEM67	HP:0000092	Renal tubular atrophy
91147	TMEM67	HP:0001396	Cholestasis
91147	TMEM67	HP:0000068	Urethral atresia
91147	TMEM67	HP:0000062	Ambiguous genitalia
91147	TMEM67	HP:0001392	Abnormality of the liver
91147	TMEM67	HP:0001395	Hepatic fibrosis
91147	TMEM67	HP:0001394	Cirrhosis
91147	TMEM67	HP:0000073	Ureteral duplication
91147	TMEM67	HP:0000037	Male pseudohermaphroditism
91147	TMEM67	HP:0000023	Inguinal hernia
91147	TMEM67	HP:0002684	Thickened calvaria
91147	TMEM67	HP:0001347	Hyperreflexia
91147	TMEM67	HP:0000028	Cryptorchidism
91147	TMEM67	HP:0008872	Feeding difficulties in infancy
91147	TMEM67	HP:0000002	Abnormality of body height
91147	TMEM67	HP:0001332	Dystonia
91147	TMEM67	HP:0000007	Autosomal recessive inheritance
91147	TMEM67	HP:0000003	Multicystic kidney dysplasia
91147	TMEM67	HP:0001337	Tremor
91147	TMEM67	HP:0001305	Dandy-Walker malformation
91147	TMEM67	HP:0002652	Skeletal dysplasia
91147	TMEM67	HP:0001320	Cerebellar vermis hypoplasia
91147	TMEM67	HP:0002650	Scoliosis
91147	TMEM67	HP:0002617	Vascular dilatation
91147	TMEM67	HP:0002612	Congenital hepatic fibrosis
91147	TMEM67	HP:0012163	Carotid artery dilatation
91147	TMEM67	HP:0000175	Cleft palate
91147	TMEM67	HP:0000154	Wide mouth
91147	TMEM67	HP:0032622	Tubular luminal dilatation
91147	TMEM67	HP:0000122	Unilateral renal agenesis
91147	TMEM67	HP:0002793	Abnormal pattern of respiration
91147	TMEM67	HP:0000112	Nephropathy
91147	TMEM67	HP:0001438	Abnormal abdomen morphology
91147	TMEM67	HP:0000107	Renal cyst
91147	TMEM67	HP:0000108	Renal corticomedullary cysts
91147	TMEM67	HP:0000103	Polyuria
91147	TMEM67	HP:0001433	Hepatosplenomegaly
91147	TMEM67	HP:0001409	Portal hypertension
91147	TMEM67	HP:0001408	Bile duct proliferation
91147	TMEM67	HP:0002750	Delayed skeletal maturation
91147	TMEM67	HP:0032581	Abnormal renal insterstitial morphology
91147	TMEM67	HP:0003312	Abnormal form of the vertebral bodies
91147	TMEM67	HP:0005957	Breathing dysregulation
91147	TMEM67	HP:0002085	Occipital encephalocele
91147	TMEM67	HP:0002084	Encephalocele
91147	TMEM67	HP:0002040	Esophageal varix
91147	TMEM67	HP:0010442	Polydactyly
91147	TMEM67	HP:0033149	Intrahepatic bile duct dilatation
91147	TMEM67	HP:0010459	True hermaphroditism
91147	TMEM67	HP:0002126	Polymicrogyria
91147	TMEM67	HP:0002104	Apnea
91147	TMEM67	HP:0011933	Elongated superior cerebellar peduncle
91147	TMEM67	HP:0002198	Dilated fourth ventricle
91147	TMEM67	HP:0008245	Pituitary hypothyroidism
91147	TMEM67	HP:0004719	Hyperechogenic kidneys
91147	TMEM67	HP:0010585	Small epiphyses
91147	TMEM67	HP:0003593	Infantile onset
91147	TMEM67	HP:0002269	Abnormality of neuronal migration
91147	TMEM67	HP:0003577	Congenital onset
91147	TMEM67	HP:0003573	Increased total bilirubin
91147	TMEM67	HP:0002240	Hepatomegaly
91147	TMEM67	HP:0002251	Aganglionic megacolon
91147	TMEM67	HP:0100732	Pancreatic fibrosis
91147	TMEM67	HP:0007018	Attention deficit hyperactivity disorder
91147	TMEM67	HP:0002365	Hypoplasia of the brainstem
91147	TMEM67	HP:0002342	Intellectual disability, moderate
91147	TMEM67	HP:0002323	Anencephaly
91147	TMEM67	HP:0100626	Chronic hepatic failure
91147	TMEM67	HP:0020132	Thickening of the tubular basement membrane
91147	TMEM67	HP:0006870	Lobar holoprosencephaly
91147	TMEM67	HP:0006824	Cranial nerve paralysis
91147	TMEM67	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
91147	TMEM67	HP:0005583	Tubular basement membrane disintegration
91147	TMEM67	HP:0006897	Abducens palsy
91147	TMEM67	HP:0005565	Reduced renal corticomedullary differentiation
91147	TMEM67	HP:0012622	Chronic kidney disease
91147	TMEM67	HP:0000639	Nystagmus
91147	TMEM67	HP:0000648	Optic atrophy
91147	TMEM67	HP:0000647	Sclerocornea
91147	TMEM67	HP:0000618	Blindness
91147	TMEM67	HP:0000612	Iris coloboma
91147	TMEM67	HP:0001959	Polydipsia
91147	TMEM67	HP:0001903	Anemia
91147	TMEM67	HP:0011314	Abnormal long bone morphology
91147	TMEM67	HP:0000657	Oculomotor apraxia
91147	TMEM67	HP:0004322	Short stature
91147	TMEM67	HP:0030680	Abnormality of cardiovascular system morphology
91147	TMEM67	HP:0003026	Short long bone
91147	TMEM67	HP:0000718	Aggressive behavior
91147	TMEM67	HP:0000713	Agitation
91147	TMEM67	HP:0004422	Biparietal narrowing
91147	TMEM67	HP:0000924	Abnormality of the skeletal system
91147	TMEM67	HP:0003170	Abnormal acetabulum morphology
91147	TMEM67	HP:0003155	Elevated circulating alkaline phosphatase concentration
91147	TMEM67	HP:0000864	Abnormality of the hypothalamus-pituitary axis
91147	TMEM67	HP:0000830	Anterior hypopituitarism
91147	TMEM67	HP:0000822	Hypertension
91147	TMEM67	HP:0000824	Decreased response to growth hormone stimulation test
91147	TMEM67	HP:0010295	Aplasia/Hypoplasia of the tongue
91147	TMEM67	HP:0040075	Hypopituitarism
91147	TMEM67	HP:0034323	Reduced circulating growth hormone concentration
91147	TMEM67	HP:0000939	Osteoporosis
91147	TMEM67	HP:0000938	Osteopenia
91147	TMEM67	HP:0000946	Hypoplastic ilia
91147	TMEM67	HP:0008053	Aplasia/Hypoplasia of the iris
91147	TMEM67	HP:0000293	Full cheeks
91147	TMEM67	HP:0000256	Macrocephaly
91147	TMEM67	HP:0000276	Long face
91147	TMEM67	HP:0000238	Hydrocephalus
91147	TMEM67	HP:0002896	Neoplasm of the liver
91147	TMEM67	HP:0000252	Microcephaly
91147	TMEM67	HP:0000221	Furrowed tongue
91147	TMEM67	HP:0002876	Episodic tachypnea
91147	TMEM67	HP:0001562	Oligohydramnios
91147	TMEM67	HP:0001541	Ascites
91147	TMEM67	HP:0000202	Orofacial cleft
91147	TMEM67	HP:0001510	Growth delay
91147	TMEM67	HP:0001513	Obesity
91147	TMEM67	HP:0007824	Total ophthalmoplegia
91147	TMEM67	HP:0006571	Reduced number of intrahepatic bile ducts
91147	TMEM67	HP:0005248	Intrahepatic biliary atresia
91147	TMEM67	HP:0006563	Malformation of the hepatic ductal plate
91147	TMEM67	HP:0002910	Elevated hepatic transaminase
91147	TMEM67	HP:0006487	Bowing of the long bones
91147	TMEM67	HP:0001696	Situs inversus totalis
91147	TMEM67	HP:0000365	Hearing impairment
91147	TMEM67	HP:0000369	Low-set ears
91147	TMEM67	HP:0000368	Low-set, posteriorly rotated ears
91147	TMEM67	HP:0000340	Sloping forehead
91147	TMEM67	HP:0000347	Micrognathia
91147	TMEM67	HP:0000316	Hypertelorism
91147	TMEM67	HP:0000311	Round face
91147	TMEM67	HP:0002986	Radial bowing
91147	TMEM67	HP:0000407	Sensorineural hearing impairment
91147	TMEM67	HP:0001737	Pancreatic cysts
91147	TMEM67	HP:0000405	Conductive hearing impairment
91147	TMEM67	HP:0000486	Strabismus
91147	TMEM67	HP:0000482	Microcornea
91147	TMEM67	HP:0000490	Deeply set eye
91147	TMEM67	HP:0000463	Anteverted nares
91147	TMEM67	HP:0000457	Depressed nasal ridge
91147	TMEM67	HP:0031589	Suicidal ideation
91147	TMEM67	HP:0001746	Asplenia
91147	TMEM67	HP:0001747	Accessory spleen
91147	TMEM67	HP:0001744	Splenomegaly
91147	TMEM67	HP:0000426	Prominent nasal bridge
91147	TMEM67	HP:0006706	Cystic liver disease
91147	TMEM67	HP:0000518	Cataract
91147	TMEM67	HP:0000510	Rod-cone dystrophy
91147	TMEM67	HP:0000528	Anophthalmia
91147	TMEM67	HP:0001829	Foot polydactyly
91147	TMEM67	HP:0000508	Ptosis
91147	TMEM67	HP:0000505	Visual impairment
91147	TMEM67	HP:0001830	Postaxial foot polydactyly
91147	TMEM67	HP:0012591	Abnormal urinary electrolyte concentration
91147	TMEM67	HP:0012585	Renal atrophy
91147	TMEM67	HP:0000577	Exotropia
91147	TMEM67	HP:0000589	Coloboma
91147	TMEM67	HP:0000588	Optic disc coloboma
91147	TMEM67	HP:0000568	Microphthalmia
91147	TMEM67	HP:0000567	Chorioretinal coloboma
91147	TMEM67	HP:0000532	Abnormal chorioretinal morphology
91147	TMEM67	HP:0001883	Talipes
91147	TMEM67	HP:0000546	Retinal degeneration
91147	TMEM67	HP:0000543	Optic disc pallor
91179	SCARF2	HP:0001182	Tapered finger
91179	SCARF2	HP:0001166	Arachnodactyly
91179	SCARF2	HP:0010946	Dilatation of the renal pelvis
91179	SCARF2	HP:0001195	Single umbilical artery
91179	SCARF2	HP:0001249	Intellectual disability
91179	SCARF2	HP:0001215	Camptodactyly of 2nd-5th fingers
91179	SCARF2	HP:0001363	Craniosynostosis
91179	SCARF2	HP:0006236	Slender metacarpals
91179	SCARF2	HP:0000007	Autosomal recessive inheritance
91179	SCARF2	HP:0000160	Narrow mouth
91179	SCARF2	HP:0000175	Cleft palate
91179	SCARF2	HP:0002705	High, narrow palate
91179	SCARF2	HP:0010493	Long metacarpals
91179	SCARF2	HP:0009473	Joint contracture of the hand
91179	SCARF2	HP:0003577	Congenital onset
91179	SCARF2	HP:0000647	Sclerocornea
91179	SCARF2	HP:0000678	Dental crowding
91179	SCARF2	HP:0003083	Dislocated radial head
91179	SCARF2	HP:0003031	Ulnar bowing
91179	SCARF2	HP:0000767	Pectus excavatum
91179	SCARF2	HP:0000773	Short ribs
91179	SCARF2	HP:0003100	Slender long bone
91179	SCARF2	HP:0030799	Scaphocephaly
91179	SCARF2	HP:0005709	2-3 toe cutaneous syndactyly
91179	SCARF2	HP:0000882	Hypoplastic scapulae
91179	SCARF2	HP:0000883	Thin ribs
91179	SCARF2	HP:0000895	Lateral clavicle hook
91179	SCARF2	HP:0000894	Short clavicles
91179	SCARF2	HP:0010307	Stridor
91179	SCARF2	HP:0000960	Sacral dimple
91179	SCARF2	HP:0000272	Malar flattening
91179	SCARF2	HP:0006380	Knee flexion contracture
91179	SCARF2	HP:0005033	Distal ulnar hypoplasia
91179	SCARF2	HP:0000218	High palate
91179	SCARF2	HP:0000232	Everted lower lip vermilion
91179	SCARF2	HP:0000385	Small earlobe
91179	SCARF2	HP:0000396	Overfolded helix
91179	SCARF2	HP:0001601	Laryngomalacia
91179	SCARF2	HP:0000358	Posteriorly rotated ears
91179	SCARF2	HP:0000347	Micrognathia
91179	SCARF2	HP:0002980	Femoral bowing
91179	SCARF2	HP:0000327	Hypoplasia of the maxilla
91179	SCARF2	HP:0002987	Elbow flexion contracture
91179	SCARF2	HP:0006633	Glenoid fossa hypoplasia
91179	SCARF2	HP:0005280	Depressed nasal bridge
91179	SCARF2	HP:0000460	Narrow nose
91179	SCARF2	HP:0001786	Narrow foot
91179	SCARF2	HP:0000452	Choanal stenosis
91179	SCARF2	HP:0000444	Convex nasal ridge
91179	SCARF2	HP:0000411	Protruding ear
91179	SCARF2	HP:0001762	Talipes equinovarus
91179	SCARF2	HP:0000430	Underdeveloped nasal alae
91179	SCARF2	HP:0001847	Long hallux
91179	SCARF2	HP:0001822	Hallux valgus
91179	SCARF2	HP:0001836	Camptodactyly of toe
91179	SCARF2	HP:0000581	Blepharophimosis
91179	SCARF2	HP:0000534	Abnormal eyebrow morphology
91252	SLC39A13	HP:0001182	Tapered finger
91252	SLC39A13	HP:0001270	Motor delay
91252	SLC39A13	HP:0100864	Short femoral neck
91252	SLC39A13	HP:0002515	Waddling gait
91252	SLC39A13	HP:0001371	Flexion contracture
91252	SLC39A13	HP:0001388	Joint laxity
91252	SLC39A13	HP:0008848	Moderately short stature
91252	SLC39A13	HP:0000007	Autosomal recessive inheritance
91252	SLC39A13	HP:0002652	Skeletal dysplasia
91252	SLC39A13	HP:0000193	Bifid uvula
91252	SLC39A13	HP:0002751	Kyphoscoliosis
91252	SLC39A13	HP:0002007	Frontal bossing
91252	SLC39A13	HP:0003301	Irregular vertebral endplates
91252	SLC39A13	HP:0003393	Thenar muscle atrophy
91252	SLC39A13	HP:0003370	Flat capital femoral epiphysis
91252	SLC39A13	HP:0010489	Absent palmar crease
91252	SLC39A13	HP:0009473	Joint contracture of the hand
91252	SLC39A13	HP:0100490	Camptodactyly of finger
91252	SLC39A13	HP:0001015	Prominent superficial veins
91252	SLC39A13	HP:0001073	Cigarette-paper scars
91252	SLC39A13	HP:0009803	Short phalanx of finger
91252	SLC39A13	HP:0010049	Short metacarpal
91252	SLC39A13	HP:0000684	Delayed eruption of teeth
91252	SLC39A13	HP:0000689	Dental malocclusion
91252	SLC39A13	HP:0000668	Hypodontia
91252	SLC39A13	HP:0004322	Short stature
91252	SLC39A13	HP:0003071	Flattened epiphysis
91252	SLC39A13	HP:0003083	Dislocated radial head
91252	SLC39A13	HP:0003015	Flared metaphysis
91252	SLC39A13	HP:0000926	Platyspondyly
91252	SLC39A13	HP:0000978	Bruising susceptibility
91252	SLC39A13	HP:0000974	Hyperextensible skin
91252	SLC39A13	HP:0000963	Thin skin
91252	SLC39A13	HP:0000938	Osteopenia
91252	SLC39A13	HP:0000944	Abnormal metaphysis morphology
91252	SLC39A13	HP:0006429	Broad femoral neck
91252	SLC39A13	HP:0000218	High palate
91252	SLC39A13	HP:0001508	Failure to thrive
91252	SLC39A13	HP:0000316	Hypertelorism
91252	SLC39A13	HP:0005280	Depressed nasal bridge
91252	SLC39A13	HP:0000494	Downslanted palpebral fissures
91252	SLC39A13	HP:0000465	Webbed neck
91252	SLC39A13	HP:0001763	Pes planus
91252	SLC39A13	HP:0000520	Proptosis
91252	SLC39A13	HP:0000592	Blue sclerae
91452	ACBD5	HP:0009904	Prominent ear helix
91452	ACBD5	HP:0003701	Proximal muscle weakness
91452	ACBD5	HP:0001270	Motor delay
91452	ACBD5	HP:0001260	Dysarthria
91452	ACBD5	HP:0002515	Waddling gait
91452	ACBD5	HP:0002527	Falls
91452	ACBD5	HP:0000007	Autosomal recessive inheritance
91452	ACBD5	HP:0001310	Dysmetria
91452	ACBD5	HP:0001488	Bilateral ptosis
91452	ACBD5	HP:0000175	Cleft palate
91452	ACBD5	HP:0003391	Gowers sign
91452	ACBD5	HP:0008167	Very long chain fatty acid accumulation
91452	ACBD5	HP:0003429	CNS hypomyelination
91452	ACBD5	HP:0000601	Hypotelorism
91452	ACBD5	HP:0000750	Delayed speech and language development
91452	ACBD5	HP:0000253	Progressive microcephaly
91452	ACBD5	HP:0001583	Rotary nystagmus
91452	ACBD5	HP:0030147	Truncal titubation
91452	ACBD5	HP:0000510	Rod-cone dystrophy
91461	PKDCC	HP:0001187	Hyperextensibility of the finger joints
91461	PKDCC	HP:0001212	Prominent fingertip pads
91461	PKDCC	HP:0001348	Brisk reflexes
91461	PKDCC	HP:0001357	Plagiocephaly
91461	PKDCC	HP:0000007	Autosomal recessive inheritance
91461	PKDCC	HP:0008905	Rhizomelia
91461	PKDCC	HP:0002188	Delayed CNS myelination
91461	PKDCC	HP:0009778	Short thumb
91461	PKDCC	HP:0012623	Stage 1 chronic kidney disease
91461	PKDCC	HP:0040024	Clinodactyly of the 3rd finger
91461	PKDCC	HP:0009237	Short 5th finger
91461	PKDCC	HP:0000954	Single transverse palmar crease
91461	PKDCC	HP:0000956	Acanthosis nigricans
91461	PKDCC	HP:0000256	Macrocephaly
91461	PKDCC	HP:0006467	Limited shoulder movement
91461	PKDCC	HP:0002829	Arthralgia
91461	PKDCC	HP:0001513	Obesity
91461	PKDCC	HP:0001601	Laryngomalacia
91461	PKDCC	HP:0000343	Long philtrum
91461	PKDCC	HP:0002999	Patellar dislocation
91461	PKDCC	HP:0000347	Micrognathia
91461	PKDCC	HP:0000319	Smooth philtrum
91461	PKDCC	HP:0001655	Patent foramen ovale
91461	PKDCC	HP:0000494	Downslanted palpebral fissures
91461	PKDCC	HP:0000470	Short neck
91461	PKDCC	HP:0000431	Wide nasal bridge
91461	PKDCC	HP:0000520	Proptosis
91461	PKDCC	HP:0011220	Prominent forehead
91574	MTRFR	HP:0001138	Optic neuropathy
91574	MTRFR	HP:0001123	Visual field defect
91574	MTRFR	HP:0007256	Abnormal pyramidal sign
91574	MTRFR	HP:0007209	Facial paralysis
91574	MTRFR	HP:0007210	Lower limb amyotrophy
91574	MTRFR	HP:0001271	Polyneuropathy
91574	MTRFR	HP:0001283	Bulbar palsy
91574	MTRFR	HP:0001284	Areflexia
91574	MTRFR	HP:0001256	Intellectual disability, mild
91574	MTRFR	HP:0001252	Hypotonia
91574	MTRFR	HP:0001251	Ataxia
91574	MTRFR	HP:0001249	Intellectual disability
91574	MTRFR	HP:0001260	Dysarthria
91574	MTRFR	HP:0001263	Global developmental delay
91574	MTRFR	HP:0002590	Paralytic ileus
91574	MTRFR	HP:0001258	Spastic paraplegia
91574	MTRFR	HP:0001257	Spasticity
91574	MTRFR	HP:0007340	Lower limb muscle weakness
91574	MTRFR	HP:0002540	Inability to walk
91574	MTRFR	HP:0002500	Abnormal cerebral white matter morphology
91574	MTRFR	HP:0001349	Facial diplegia
91574	MTRFR	HP:0001347	Hyperreflexia
91574	MTRFR	HP:0001324	Muscle weakness
91574	MTRFR	HP:0000007	Autosomal recessive inheritance
91574	MTRFR	HP:0007663	Reduced visual acuity
91574	MTRFR	HP:0007641	Dyschromatopsia
91574	MTRFR	HP:0008963	Tibialis muscle weakness
91574	MTRFR	HP:0008947	Infantile muscular hypotonia
91574	MTRFR	HP:0002015	Dysphagia
91574	MTRFR	HP:0100543	Cognitive impairment
91574	MTRFR	HP:0002061	Lower limb spasticity
91574	MTRFR	HP:0002079	Hypoplasia of the corpus callosum
91574	MTRFR	HP:0003376	Steppage gait
91574	MTRFR	HP:0003383	Onion bulb formation
91574	MTRFR	HP:0003380	Decreased number of peripheral myelinated nerve fibers
91574	MTRFR	HP:0003477	Peripheral axonal neuropathy
91574	MTRFR	HP:0003487	Babinski sign
91574	MTRFR	HP:0003484	Upper limb muscle weakness
91574	MTRFR	HP:0002151	Increased serum lactate
91574	MTRFR	HP:0003448	Decreased sensory nerve conduction velocity
91574	MTRFR	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
91574	MTRFR	HP:0011923	Decreased activity of mitochondrial complex I
91574	MTRFR	HP:0200136	Oral-pharyngeal dysphagia
91574	MTRFR	HP:0007042	Focal white matter lesions
91574	MTRFR	HP:0007010	Poor fine motor coordination
91574	MTRFR	HP:0008347	Decreased activity of mitochondrial complex IV
91574	MTRFR	HP:0020049	Exodeviation
91574	MTRFR	HP:0002395	Lower limb hyperreflexia
91574	MTRFR	HP:0003693	Distal amyotrophy
91574	MTRFR	HP:0002376	Developmental regression
91574	MTRFR	HP:0003676	Progressive
91574	MTRFR	HP:0002355	Difficulty walking
91574	MTRFR	HP:0002313	Spastic paraparesis
91574	MTRFR	HP:0009830	Peripheral neuropathy
91574	MTRFR	HP:0003621	Juvenile onset
91574	MTRFR	HP:0011399	Tibialis anterior muscle atrophy
91574	MTRFR	HP:0006886	Impaired distal vibration sensation
91574	MTRFR	HP:0000639	Nystagmus
91574	MTRFR	HP:0000648	Optic atrophy
91574	MTRFR	HP:0000602	Ophthalmoplegia
91574	MTRFR	HP:0000603	Central scotoma
91574	MTRFR	HP:0012696	Abnormal thalamic MRI signal intensity
91574	MTRFR	HP:0009027	Foot dorsiflexor weakness
91574	MTRFR	HP:0001999	Abnormal facial shape
91574	MTRFR	HP:0006937	Impaired distal tactile sensation
91574	MTRFR	HP:0012747	Abnormal brainstem MRI signal intensity
91574	MTRFR	HP:0012707	Elevated brain lactate level by MRS
91574	MTRFR	HP:0011471	Gastrostomy tube feeding in infancy
91574	MTRFR	HP:0011463	Childhood onset
91574	MTRFR	HP:0011449	Knee clonus
91574	MTRFR	HP:0003202	Skeletal muscle atrophy
91574	MTRFR	HP:0002804	Arthrogryposis multiplex congenita
91574	MTRFR	HP:0001508	Failure to thrive
91574	MTRFR	HP:0005216	Impaired mastication
91574	MTRFR	HP:0002936	Distal sensory impairment
91574	MTRFR	HP:0002943	Thoracic scoliosis
91574	MTRFR	HP:0031629	Impaired tandem gait
91574	MTRFR	HP:0000486	Strabismus
91574	MTRFR	HP:0001762	Talipes equinovarus
91574	MTRFR	HP:0001761	Pes cavus
91574	MTRFR	HP:0000508	Ptosis
91574	MTRFR	HP:0000505	Visual impairment
91574	MTRFR	HP:0000544	External ophthalmoplegia
91624	NEXN	HP:0000006	Autosomal dominant inheritance
91624	NEXN	HP:0033755	Increased left ventricular end-diastolic volume
91624	NEXN	HP:0100578	Lipoatrophy
91624	NEXN	HP:0003457	EMG abnormality
91624	NEXN	HP:0003596	Middle age onset
91624	NEXN	HP:0003584	Late onset
91624	NEXN	HP:0003581	Adult onset
91624	NEXN	HP:0003621	Juvenile onset
91624	NEXN	HP:0012664	Reduced left ventricular ejection fraction
91624	NEXN	HP:0011462	Young adult onset
91624	NEXN	HP:0003198	Myopathy
91624	NEXN	HP:0003236	Elevated circulating creatine kinase concentration
91624	NEXN	HP:0000982	Palmoplantar keratoderma
91624	NEXN	HP:0005110	Atrial fibrillation
91624	NEXN	HP:0001644	Dilated cardiomyopathy
91624	NEXN	HP:0001639	Hypertrophic cardiomyopathy
91624	NEXN	HP:0000407	Sensorineural hearing impairment
91624	NEXN	HP:0001712	Left ventricular hypertrophy
91624	NEXN	HP:0001874	Abnormality of neutrophils
91647	ATPAF2	HP:0002490	Increased CSF lactate
91647	ATPAF2	HP:0001276	Hypertonia
91647	ATPAF2	HP:0003819	Death in childhood
91647	ATPAF2	HP:0000089	Renal hypoplasia
91647	ATPAF2	HP:0001371	Flexion contracture
91647	ATPAF2	HP:0000007	Autosomal recessive inheritance
91647	ATPAF2	HP:0000154	Wide mouth
91647	ATPAF2	HP:0003355	Aminoaciduria
91647	ATPAF2	HP:0002033	Poor suck
91647	ATPAF2	HP:0002151	Increased serum lactate
91647	ATPAF2	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
91647	ATPAF2	HP:0003577	Congenital onset
91647	ATPAF2	HP:0002240	Hepatomegaly
91647	ATPAF2	HP:0003535	3-Methylglutaconic aciduria
91647	ATPAF2	HP:0003648	Lacticaciduria
91647	ATPAF2	HP:0011344	Severe global developmental delay
91647	ATPAF2	HP:0006989	Dysplastic corpus callosum
91647	ATPAF2	HP:0000278	Retrognathia
91647	ATPAF2	HP:0000252	Microcephaly
91647	ATPAF2	HP:0001508	Failure to thrive
91647	ATPAF2	HP:0012385	Camptodactyly
91647	ATPAF2	HP:0000347	Micrognathia
91647	ATPAF2	HP:0000426	Prominent nasal bridge
91647	ATPAF2	HP:0011273	Anisocytosis
91647	ATPAF2	HP:0001838	Rocker bottom foot
91662	NLRP12	HP:0003829	Typified by incomplete penetrance
91662	NLRP12	HP:0001369	Arthritis
91662	NLRP12	HP:0000006	Autosomal dominant inheritance
91662	NLRP12	HP:0002716	Lymphadenopathy
91662	NLRP12	HP:0002027	Abdominal pain
91662	NLRP12	HP:0003326	Myalgia
91662	NLRP12	HP:0003593	Infantile onset
91662	NLRP12	HP:0003565	Elevated erythrocyte sedimentation rate
91662	NLRP12	HP:0001025	Urticaria
91662	NLRP12	HP:0002315	Headache
91662	NLRP12	HP:0003623	Neonatal onset
91662	NLRP12	HP:0001974	Leukocytosis
91662	NLRP12	HP:0001954	Recurrent fever
91662	NLRP12	HP:0033050	Pharyngalgia
91662	NLRP12	HP:0000988	Skin rash
91662	NLRP12	HP:0002829	Arthralgia
91662	NLRP12	HP:0012219	Erythema nodosum
91662	NLRP12	HP:0000407	Sensorineural hearing impairment
91662	NLRP12	HP:0011107	Recurrent aphthous stomatitis
91662	NLRP12	HP:0001744	Splenomegaly
91662	NLRP12	HP:0011227	Elevated circulating C-reactive protein concentration
91662	NLRP12	HP:0012514	Lower limb pain
91754	NEK9	HP:0001181	Adducted thumb
91754	NEK9	HP:0002414	Spina bifida
91754	NEK9	HP:0025258	Stiff neck
91754	NEK9	HP:0025249	Comedo
91754	NEK9	HP:0001250	Seizure
91754	NEK9	HP:0006101	Finger syndactyly
91754	NEK9	HP:0025331	Upgaze palsy
91754	NEK9	HP:0000007	Autosomal recessive inheritance
91754	NEK9	HP:0002650	Scoliosis
91754	NEK9	HP:0002623	Overriding aorta
91754	NEK9	HP:0000189	Narrow palate
91754	NEK9	HP:0000158	Macroglossia
91754	NEK9	HP:0001428	Somatic mutation
91754	NEK9	HP:0002021	Pyloric stenosis
91754	NEK9	HP:0002089	Pulmonary hypoplasia
91754	NEK9	HP:0002099	Asthma
91754	NEK9	HP:0003468	Abnormal vertebral morphology
91754	NEK9	HP:0010566	Hamartoma
91754	NEK9	HP:0010557	Overlapping fingers
91754	NEK9	HP:0003577	Congenital onset
91754	NEK9	HP:0003557	Increased variability in muscle fiber diameter
91754	NEK9	HP:0001052	Nevus flammeus
91754	NEK9	HP:0001047	Atopic dermatitis
91754	NEK9	HP:0020154	Nevus comedonicus
91754	NEK9	HP:0001989	Fetal akinesia sequence
91754	NEK9	HP:0030674	Antenatal onset
91754	NEK9	HP:0003026	Short long bone
91754	NEK9	HP:0000778	Hypoplasia of the thymus
91754	NEK9	HP:0000774	Narrow chest
91754	NEK9	HP:0005743	Avascular necrosis of the capital femoral epiphysis
91754	NEK9	HP:0000885	Broad ribs
91754	NEK9	HP:0003298	Spina bifida occulta
91754	NEK9	HP:0100258	Preaxial polydactyly
91754	NEK9	HP:0008064	Ichthyosis
91754	NEK9	HP:0000293	Full cheeks
91754	NEK9	HP:0001595	Abnormal hair morphology
91754	NEK9	HP:0002804	Arthrogryposis multiplex congenita
91754	NEK9	HP:0000252	Microcephaly
91754	NEK9	HP:0000218	High palate
91754	NEK9	HP:0001562	Oligohydramnios
91754	NEK9	HP:0001539	Omphalocele
91754	NEK9	HP:0001511	Intrauterine growth retardation
91754	NEK9	HP:0012385	Camptodactyly
91754	NEK9	HP:0002943	Thoracic scoliosis
91754	NEK9	HP:0000369	Low-set ears
91754	NEK9	HP:0000343	Long philtrum
91754	NEK9	HP:0000347	Micrognathia
91754	NEK9	HP:0002980	Femoral bowing
91754	NEK9	HP:0001642	Pulmonic stenosis
91754	NEK9	HP:0001629	Ventricular septal defect
91754	NEK9	HP:0001640	Cardiomegaly
91754	NEK9	HP:0001631	Atrial septal defect
91754	NEK9	HP:0000494	Downslanted palpebral fissures
91754	NEK9	HP:0001789	Hydrops fetalis
91754	NEK9	HP:0000473	Torticollis
91754	NEK9	HP:0000470	Short neck
91754	NEK9	HP:0001770	Toe syndactyly
91754	NEK9	HP:0000444	Convex nasal ridge
91754	NEK9	HP:0001760	Abnormal foot morphology
91754	NEK9	HP:0001762	Talipes equinovarus
91754	NEK9	HP:0000518	Cataract
91754	NEK9	HP:0001845	Overlapping toe
91801	ALKBH8	HP:0001250	Seizure
91801	ALKBH8	HP:0001249	Intellectual disability
91801	ALKBH8	HP:0001263	Global developmental delay
91801	ALKBH8	HP:0000054	Micropenis
91801	ALKBH8	HP:0000028	Cryptorchidism
91801	ALKBH8	HP:0000007	Autosomal recessive inheritance
91801	ALKBH8	HP:0000122	Unilateral renal agenesis
91801	ALKBH8	HP:0034454	Arachnoid granulation
91801	ALKBH8	HP:0007018	Attention deficit hyperactivity disorder
91801	ALKBH8	HP:0001090	Abnormally large globe
91801	ALKBH8	HP:0004392	Prune belly
91801	ALKBH8	HP:0000256	Macrocephaly
91801	ALKBH8	HP:0000276	Long face
91801	ALKBH8	HP:0011094	Increased overbite
91801	ALKBH8	HP:0001629	Ventricular septal defect
91801	ALKBH8	HP:0000400	Macrotia
91801	ALKBH8	HP:0000490	Deeply set eye
91851	CHRDL1	HP:0001132	Lens subluxation
91851	CHRDL1	HP:0007663	Reduced visual acuity
91851	CHRDL1	HP:0001419	X-linked recessive inheritance
91851	CHRDL1	HP:0001084	Corneal arcus
91851	CHRDL1	HP:0100693	Iridodonesis
91851	CHRDL1	HP:0100689	Decreased corneal thickness
91851	CHRDL1	HP:0000616	Miosis
91851	CHRDL1	HP:0012632	Abnormal intraocular pressure
91851	CHRDL1	HP:0012805	Iris transillumination defect
91851	CHRDL1	HP:0007765	Deep anterior chamber
91851	CHRDL1	HP:0007836	Mosaic corneal dystrophy
91851	CHRDL1	HP:0000483	Astigmatism
91851	CHRDL1	HP:0000485	Megalocornea
91851	CHRDL1	HP:0000518	Cataract
91851	CHRDL1	HP:0000501	Glaucoma
91851	CHRDL1	HP:0000541	Retinal detachment
91869	RFT1	HP:0001181	Adducted thumb
91869	RFT1	HP:0010864	Intellectual disability, severe
91869	RFT1	HP:0002401	Stroke-like episode
91869	RFT1	HP:0001250	Seizure
91869	RFT1	HP:0001252	Hypotonia
91869	RFT1	HP:0001251	Ataxia
91869	RFT1	HP:0001263	Global developmental delay
91869	RFT1	HP:0001257	Spasticity
91869	RFT1	HP:0001347	Hyperreflexia
91869	RFT1	HP:0000007	Autosomal recessive inheritance
91869	RFT1	HP:0001336	Myoclonus
91869	RFT1	HP:0007663	Reduced visual acuity
91869	RFT1	HP:0002783	Recurrent lower respiratory tract infections
91869	RFT1	HP:0002093	Respiratory insufficiency
91869	RFT1	HP:0002059	Cerebral atrophy
91869	RFT1	HP:0002120	Cerebral cortical atrophy
91869	RFT1	HP:0003593	Infantile onset
91869	RFT1	HP:0002240	Hepatomegaly
91869	RFT1	HP:0011968	Feeding difficulties
91869	RFT1	HP:0007146	Bilateral basal ganglia lesions
91869	RFT1	HP:0003642	Type I transferrin isoform profile
91869	RFT1	HP:0001977	Abnormal thrombosis
91869	RFT1	HP:0001928	Abnormality of coagulation
91869	RFT1	HP:0004322	Short stature
91869	RFT1	HP:0003186	Inverted nipples
91869	RFT1	HP:0030890	Hyperintensity of cerebral white matter on MRI
91869	RFT1	HP:0003256	Abnormality of the coagulation cascade
91869	RFT1	HP:0000932	Abnormal posterior cranial fossa morphology
91869	RFT1	HP:0008081	Pes valgus
91869	RFT1	HP:0002804	Arthrogryposis multiplex congenita
91869	RFT1	HP:0000252	Microcephaly
91869	RFT1	HP:0001508	Failure to thrive
91869	RFT1	HP:0000365	Hearing impairment
91869	RFT1	HP:0000347	Micrognathia
91869	RFT1	HP:0000407	Sensorineural hearing impairment
91869	RFT1	HP:0000470	Short neck
91869	RFT1	HP:0000505	Visual impairment
91869	RFT1	HP:0001892	Abnormal bleeding
91875	TTC5	HP:0009879	Simplified gyral pattern
91875	TTC5	HP:0001274	Agenesis of corpus callosum
91875	TTC5	HP:0001250	Seizure
91875	TTC5	HP:0001252	Hypotonia
91875	TTC5	HP:0001249	Intellectual disability
91875	TTC5	HP:0007371	Corpus callosum atrophy
91875	TTC5	HP:0002553	Highly arched eyebrow
91875	TTC5	HP:0025336	Delayed ability to sit
91875	TTC5	HP:0025335	Delayed ability to stand
91875	TTC5	HP:0000028	Cryptorchidism
91875	TTC5	HP:0001344	Absent speech
91875	TTC5	HP:0000007	Autosomal recessive inheritance
91875	TTC5	HP:0002059	Cerebral atrophy
91875	TTC5	HP:0003577	Congenital onset
91875	TTC5	HP:0002224	Woolly hair
91875	TTC5	HP:0007082	Dilated third ventricle
91875	TTC5	HP:0002360	Sleep disturbance
91875	TTC5	HP:0001007	Hirsutism
91875	TTC5	HP:0002352	Leukoencephalopathy
91875	TTC5	HP:0010804	Tented upper lip vermilion
91875	TTC5	HP:0006956	Lateral ventricle dilatation
91875	TTC5	HP:0000750	Delayed speech and language development
91875	TTC5	HP:0000718	Aggressive behavior
91875	TTC5	HP:0000729	Autistic behavior
91875	TTC5	HP:0000958	Dry skin
91875	TTC5	HP:0000294	Low anterior hairline
91875	TTC5	HP:0000276	Long face
91875	TTC5	HP:0002808	Kyphosis
91875	TTC5	HP:0000252	Microcephaly
91875	TTC5	HP:0000248	Brachycephaly
91875	TTC5	HP:0000219	Thin upper lip vermilion
91875	TTC5	HP:0000218	High palate
91875	TTC5	HP:0000369	Low-set ears
91875	TTC5	HP:0000343	Long philtrum
91875	TTC5	HP:0000337	Broad forehead
91875	TTC5	HP:0000322	Short philtrum
91875	TTC5	HP:0000307	Pointed chin
91875	TTC5	HP:0006610	Wide intermamillary distance
91875	TTC5	HP:0000448	Prominent nose
91875	TTC5	HP:0011229	Broad eyebrow
91942	NDUFAF2	HP:0025116	Fetal distress
91942	NDUFAF2	HP:0002490	Increased CSF lactate
91942	NDUFAF2	HP:0001138	Optic neuropathy
91942	NDUFAF2	HP:0010864	Intellectual disability, severe
91942	NDUFAF2	HP:0002421	Poor head control
91942	NDUFAF2	HP:0002415	Leukodystrophy
91942	NDUFAF2	HP:0003737	Mitochondrial myopathy
91942	NDUFAF2	HP:0001298	Encephalopathy
91942	NDUFAF2	HP:0001284	Areflexia
91942	NDUFAF2	HP:0001254	Lethargy
91942	NDUFAF2	HP:0001250	Seizure
91942	NDUFAF2	HP:0001252	Hypotonia
91942	NDUFAF2	HP:0001251	Ataxia
91942	NDUFAF2	HP:0001265	Hyporeflexia
91942	NDUFAF2	HP:0001260	Dysarthria
91942	NDUFAF2	HP:0001263	Global developmental delay
91942	NDUFAF2	HP:0001257	Spasticity
91942	NDUFAF2	HP:0001347	Hyperreflexia
91942	NDUFAF2	HP:0001332	Dystonia
91942	NDUFAF2	HP:0001324	Muscle weakness
91942	NDUFAF2	HP:0000007	Autosomal recessive inheritance
91942	NDUFAF2	HP:0001310	Dysmetria
91942	NDUFAF2	HP:0008972	Decreased activity of mitochondrial respiratory chain
91942	NDUFAF2	HP:0000114	Proximal tubulopathy
91942	NDUFAF2	HP:0002015	Dysphagia
91942	NDUFAF2	HP:0002013	Vomiting
91942	NDUFAF2	HP:0002093	Respiratory insufficiency
91942	NDUFAF2	HP:0002073	Progressive cerebellar ataxia
91942	NDUFAF2	HP:0002151	Increased serum lactate
91942	NDUFAF2	HP:0002136	Broad-based gait
91942	NDUFAF2	HP:0002104	Apnea
91942	NDUFAF2	HP:0011923	Decreased activity of mitochondrial complex I
91942	NDUFAF2	HP:0010535	Sleep apnea
91942	NDUFAF2	HP:0002240	Hepatomegaly
91942	NDUFAF2	HP:0003542	Increased serum pyruvate
91942	NDUFAF2	HP:0007020	Progressive spastic paraplegia
91942	NDUFAF2	HP:0011968	Feeding difficulties
91942	NDUFAF2	HP:0008316	Abnormal mitochondria in muscle tissue
91942	NDUFAF2	HP:0003676	Progressive
91942	NDUFAF2	HP:0002352	Leukoencephalopathy
91942	NDUFAF2	HP:0009830	Peripheral neuropathy
91942	NDUFAF2	HP:0007110	Central hypoventilation
91942	NDUFAF2	HP:0007183	Focal T2 hyperintense basal ganglia lesion
91942	NDUFAF2	HP:0000639	Nystagmus
91942	NDUFAF2	HP:0000648	Optic atrophy
91942	NDUFAF2	HP:0000618	Blindness
91942	NDUFAF2	HP:0001943	Hypoglycemia
91942	NDUFAF2	HP:0001941	Acidosis
91942	NDUFAF2	HP:0000602	Ophthalmoplegia
91942	NDUFAF2	HP:0001903	Anemia
91942	NDUFAF2	HP:0000666	Horizontal nystagmus
91942	NDUFAF2	HP:0012748	Focal T2 hyperintense brainstem lesion
91942	NDUFAF2	HP:0100022	Abnormality of movement
91942	NDUFAF2	HP:0000712	Emotional lability
91942	NDUFAF2	HP:0011463	Childhood onset
91942	NDUFAF2	HP:0003128	Lactic acidosis
91942	NDUFAF2	HP:0000819	Diabetes mellitus
91942	NDUFAF2	HP:0000817	Reduced eye contact
91942	NDUFAF2	HP:0000998	Hypertrichosis
91942	NDUFAF2	HP:0007704	Paroxysmal involuntary eye movements
91942	NDUFAF2	HP:0000252	Microcephaly
91942	NDUFAF2	HP:0002878	Respiratory failure
91942	NDUFAF2	HP:0001508	Failure to thrive
91942	NDUFAF2	HP:0001511	Intrauterine growth retardation
91942	NDUFAF2	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
91942	NDUFAF2	HP:0000365	Hearing impairment
91942	NDUFAF2	HP:0001629	Ventricular septal defect
91942	NDUFAF2	HP:0001639	Hypertrophic cardiomyopathy
91942	NDUFAF2	HP:0000407	Sensorineural hearing impairment
91942	NDUFAF2	HP:0000486	Strabismus
91942	NDUFAF2	HP:0000508	Ptosis
91942	NDUFAF2	HP:0000580	Pigmentary retinopathy
91942	NDUFAF2	HP:0000543	Optic disc pallor
91942	NDUFAF2	HP:0000544	External ophthalmoplegia
91949	COG7	HP:0001181	Adducted thumb
91949	COG7	HP:0001167	Abnormal finger morphology
91949	COG7	HP:0001290	Generalized hypotonia
91949	COG7	HP:0100807	Long fingers
91949	COG7	HP:0001272	Cerebellar atrophy
91949	COG7	HP:0001284	Areflexia
91949	COG7	HP:0001250	Seizure
91949	COG7	HP:0001252	Hypotonia
91949	COG7	HP:0001265	Hyporeflexia
91949	COG7	HP:0007392	Excessive wrinkled skin
91949	COG7	HP:0000077	Abnormality of the kidney
91949	COG7	HP:0008897	Postnatal growth retardation
91949	COG7	HP:0000011	Neurogenic bladder
91949	COG7	HP:0000007	Autosomal recessive inheritance
91949	COG7	HP:0000160	Narrow mouth
91949	COG7	HP:0012157	Subcortical cerebral atrophy
91949	COG7	HP:0000126	Hydronephrosis
91949	COG7	HP:0001433	Hepatosplenomegaly
91949	COG7	HP:0001410	Decreased liver function
91949	COG7	HP:0002719	Recurrent infections
91949	COG7	HP:0002020	Gastroesophageal reflux
91949	COG7	HP:0002014	Diarrhea
91949	COG7	HP:0002093	Respiratory insufficiency
91949	COG7	HP:0002079	Hypoplasia of the corpus callosum
91949	COG7	HP:0002059	Cerebral atrophy
91949	COG7	HP:0010557	Overlapping fingers
91949	COG7	HP:0003577	Congenital onset
91949	COG7	HP:0002240	Hepatomegaly
91949	COG7	HP:0011968	Feeding difficulties
91949	COG7	HP:0010808	Protruding tongue
91949	COG7	HP:0001943	Hypoglycemia
91949	COG7	HP:0001954	Recurrent fever
91949	COG7	HP:0001999	Abnormal facial shape
91949	COG7	HP:0004322	Short stature
91949	COG7	HP:0031956	Elevated circulating aspartate aminotransferase concentration
91949	COG7	HP:0031964	Elevated circulating alanine aminotransferase concentration
91949	COG7	HP:0012745	Short palpebral fissure
91949	COG7	HP:0012736	Profound global developmental delay
91949	COG7	HP:0011451	Primary microcephaly
91949	COG7	HP:0012768	Neonatal asphyxia
91949	COG7	HP:0004425	Flat forehead
91949	COG7	HP:0003196	Short nose
91949	COG7	HP:0003186	Inverted nipples
91949	COG7	HP:0003236	Elevated circulating creatine kinase concentration
91949	COG7	HP:0003202	Skeletal muscle atrophy
91949	COG7	HP:0000998	Hypertrichosis
91949	COG7	HP:0000952	Jaundice
91949	COG7	HP:0011682	Perimembranous ventricular septal defect
91949	COG7	HP:0000278	Retrognathia
91949	COG7	HP:0000294	Low anterior hairline
91949	COG7	HP:0000253	Progressive microcephaly
91949	COG7	HP:0001522	Death in infancy
91949	COG7	HP:0001508	Failure to thrive
91949	COG7	HP:0001518	Small for gestational age
91949	COG7	HP:0001511	Intrauterine growth retardation
91949	COG7	HP:0001510	Growth delay
91949	COG7	HP:0002910	Elevated hepatic transaminase
91949	COG7	HP:0000369	Low-set ears
91949	COG7	HP:0000341	Narrow forehead
91949	COG7	HP:0001684	Secundum atrial septal defect
91949	COG7	HP:0000347	Micrognathia
91949	COG7	HP:0012301	Type II transferrin isoform profile
91949	COG7	HP:0000319	Smooth philtrum
91949	COG7	HP:0001627	Abnormal heart morphology
91949	COG7	HP:0001635	Congestive heart failure
91949	COG7	HP:0000407	Sensorineural hearing impairment
91949	COG7	HP:0012471	Thick vermilion border
91949	COG7	HP:0012448	Delayed myelination
91949	COG7	HP:0012444	Brain atrophy
91949	COG7	HP:0000470	Short neck
91949	COG7	HP:0000445	Wide nose
91949	COG7	HP:0001744	Splenomegaly
91949	COG7	HP:0000582	Upslanted palpebral fissure
92002	CCNQ	HP:0001153	Septate vagina
92002	CCNQ	HP:0009921	Duane anomaly
92002	CCNQ	HP:0001250	Seizure
92002	CCNQ	HP:0008665	Clitoral hypertrophy
92002	CCNQ	HP:0000083	Renal insufficiency
92002	CCNQ	HP:0000086	Ectopic kidney
92002	CCNQ	HP:0000085	Horseshoe kidney
92002	CCNQ	HP:0000066	Labial hypoplasia
92002	CCNQ	HP:0000076	Vesicoureteral reflux
92002	CCNQ	HP:0000072	Hydroureter
92002	CCNQ	HP:0001388	Joint laxity
92002	CCNQ	HP:0001363	Craniosynostosis
92002	CCNQ	HP:0000143	Rectovaginal fistula
92002	CCNQ	HP:0000125	Pelvic kidney
92002	CCNQ	HP:0000126	Hydronephrosis
92002	CCNQ	HP:0001423	X-linked dominant inheritance
92002	CCNQ	HP:0000104	Renal agenesis
92002	CCNQ	HP:0002023	Anal atresia
92002	CCNQ	HP:0004692	4-5 toe syndactyly
92002	CCNQ	HP:0003396	Syringomyelia
92002	CCNQ	HP:0004736	Crossed fused renal ectopia
92002	CCNQ	HP:0003577	Congenital onset
92002	CCNQ	HP:0010716	3-5 toe syndactyly
92002	CCNQ	HP:0009779	3-4 toe syndactyly
92002	CCNQ	HP:0004969	Peripheral pulmonary artery stenosis
92002	CCNQ	HP:0004209	Clinodactyly of the 5th finger
92002	CCNQ	HP:0000625	Eyelid coloboma
92002	CCNQ	HP:0004322	Short stature
92002	CCNQ	HP:0004415	Pulmonary artery stenosis
92002	CCNQ	HP:0000813	Bicornuate uterus
92002	CCNQ	HP:0011560	Mitral atresia
92002	CCNQ	HP:0003298	Spina bifida occulta
92002	CCNQ	HP:0000954	Single transverse palmar crease
92002	CCNQ	HP:0034350	Valvular pulmonary stenosis
92002	CCNQ	HP:0007754	Macular dystrophy
92002	CCNQ	HP:0000219	Thin upper lip vermilion
92002	CCNQ	HP:0001518	Small for gestational age
92002	CCNQ	HP:0001511	Intrauterine growth retardation
92002	CCNQ	HP:0000394	Lop ear
92002	CCNQ	HP:0011003	High myopia
92002	CCNQ	HP:0000369	Low-set ears
92002	CCNQ	HP:0001671	Abnormal cardiac septum morphology
92002	CCNQ	HP:0000337	Broad forehead
92002	CCNQ	HP:0001647	Bicuspid aortic valve
92002	CCNQ	HP:0001659	Aortic regurgitation
92002	CCNQ	HP:0002984	Hypoplasia of the radius
92002	CCNQ	HP:0001655	Patent foramen ovale
92002	CCNQ	HP:0001631	Atrial septal defect
92002	CCNQ	HP:0005343	Hypoplasia of the bladder
92002	CCNQ	HP:0005280	Depressed nasal bridge
92002	CCNQ	HP:0000460	Narrow nose
92002	CCNQ	HP:0000455	Broad nasal tip
92002	CCNQ	HP:0001770	Toe syndactyly
92002	CCNQ	HP:0000445	Wide nose
92002	CCNQ	HP:0001776	Bilateral talipes equinovarus
92002	CCNQ	HP:0000414	Bulbous nose
92002	CCNQ	HP:0000431	Wide nasal bridge
92002	CCNQ	HP:0000506	Telecanthus
92002	CCNQ	HP:0000556	Retinal dystrophy
92002	CCNQ	HP:0000545	Myopia
92154	MTSS2	HP:0001256	Intellectual disability, mild
92154	MTSS2	HP:0001250	Seizure
92154	MTSS2	HP:0001263	Global developmental delay
92154	MTSS2	HP:0000006	Autosomal dominant inheritance
92154	MTSS2	HP:0003593	Infantile onset
92154	MTSS2	HP:0000639	Nystagmus
92154	MTSS2	HP:0000648	Optic atrophy
92154	MTSS2	HP:0000729	Autistic behavior
92154	MTSS2	HP:0011523	Iris cyst
92154	MTSS2	HP:0000286	Epicanthus
92154	MTSS2	HP:0007750	Hypoplasia of the fovea
92154	MTSS2	HP:0000252	Microcephaly
92154	MTSS2	HP:0000341	Narrow forehead
92154	MTSS2	HP:0000407	Sensorineural hearing impairment
92154	MTSS2	HP:0000508	Ptosis
92154	MTSS2	HP:0000582	Upslanted palpebral fissure
92211	CDHR1	HP:0001133	Constriction of peripheral visual field
92211	CDHR1	HP:0001249	Intellectual disability
92211	CDHR1	HP:0008736	Hypoplasia of penis
92211	CDHR1	HP:0001347	Hyperreflexia
92211	CDHR1	HP:0000035	Abnormal testis morphology
92211	CDHR1	HP:0000007	Autosomal recessive inheritance
92211	CDHR1	HP:0000135	Hypogonadism
92211	CDHR1	HP:0007675	Progressive night blindness
92211	CDHR1	HP:0005978	Type II diabetes mellitus
92211	CDHR1	HP:0000639	Nystagmus
92211	CDHR1	HP:0000648	Optic atrophy
92211	CDHR1	HP:0000618	Blindness
92211	CDHR1	HP:0000613	Photophobia
92211	CDHR1	HP:0000602	Ophthalmoplegia
92211	CDHR1	HP:0000662	Nyctalopia
92211	CDHR1	HP:0000842	Hyperinsulinemia
92211	CDHR1	HP:0000987	Atypical scarring of skin
92211	CDHR1	HP:0008046	Abnormal retinal vascular morphology
92211	CDHR1	HP:0007722	Retinal pigment epithelial atrophy
92211	CDHR1	HP:0007703	Abnormality of retinal pigmentation
92211	CDHR1	HP:0001513	Obesity
92211	CDHR1	HP:0007843	Attenuation of retinal blood vessels
92211	CDHR1	HP:0000407	Sensorineural hearing impairment
92211	CDHR1	HP:0000405	Conductive hearing impairment
92211	CDHR1	HP:0000463	Anteverted nares
92211	CDHR1	HP:0000431	Wide nasal bridge
92211	CDHR1	HP:0000518	Cataract
92211	CDHR1	HP:0000510	Rod-cone dystrophy
92211	CDHR1	HP:0000512	Abnormal electroretinogram
92211	CDHR1	HP:0000529	Progressive visual loss
92211	CDHR1	HP:0000505	Visual impairment
92211	CDHR1	HP:0000501	Glaucoma
92211	CDHR1	HP:0000563	Keratoconus
92211	CDHR1	HP:0000551	Color vision defect
92255	LMBRD2	HP:0001137	Alternating esotropia
92255	LMBRD2	HP:0001270	Motor delay
92255	LMBRD2	HP:0001250	Seizure
92255	LMBRD2	HP:0001263	Global developmental delay
92255	LMBRD2	HP:0001257	Spasticity
92255	LMBRD2	HP:0033725	Thin corpus callosum
92255	LMBRD2	HP:0000006	Autosomal dominant inheritance
92255	LMBRD2	HP:0002057	Prominent glabella
92255	LMBRD2	HP:0003593	Infantile onset
92255	LMBRD2	HP:0002282	Gray matter heterotopia
92255	LMBRD2	HP:0200021	Down-sloping shoulders
92255	LMBRD2	HP:0000639	Nystagmus
92255	LMBRD2	HP:0000637	Long palpebral fissure
92255	LMBRD2	HP:0000646	Amblyopia
92255	LMBRD2	HP:0000691	Microdontia
92255	LMBRD2	HP:0000687	Widely spaced teeth
92255	LMBRD2	HP:0000767	Pectus excavatum
92255	LMBRD2	HP:0000750	Delayed speech and language development
92255	LMBRD2	HP:0006380	Knee flexion contracture
92255	LMBRD2	HP:0000252	Microcephaly
92255	LMBRD2	HP:0012385	Camptodactyly
92255	LMBRD2	HP:0000336	Prominent supraorbital ridges
92255	LMBRD2	HP:0000347	Micrognathia
92255	LMBRD2	HP:0002967	Cubitus valgus
92255	LMBRD2	HP:0005338	Sparse lateral eyebrow
92255	LMBRD2	HP:0000400	Macrotia
92255	LMBRD2	HP:0000483	Astigmatism
92255	LMBRD2	HP:0000463	Anteverted nares
92255	LMBRD2	HP:0000445	Wide nose
92255	LMBRD2	HP:0000518	Cataract
92255	LMBRD2	HP:0000501	Glaucoma
92255	LMBRD2	HP:0000582	Upslanted palpebral fissure
92255	LMBRD2	HP:0000568	Microphthalmia
92255	LMBRD2	HP:0000540	Hypermetropia
92335	STRADA	HP:0002446	Astrocytosis
92335	STRADA	HP:0001290	Generalized hypotonia
92335	STRADA	HP:0001250	Seizure
92335	STRADA	HP:0001252	Hypotonia
92335	STRADA	HP:0001249	Intellectual disability
92335	STRADA	HP:0001263	Global developmental delay
92335	STRADA	HP:0002540	Inability to walk
92335	STRADA	HP:0002553	Highly arched eyebrow
92335	STRADA	HP:0001388	Joint laxity
92335	STRADA	HP:0001355	Megalencephaly
92335	STRADA	HP:0001344	Absent speech
92335	STRADA	HP:0000007	Autosomal recessive inheritance
92335	STRADA	HP:0000179	Thick lower lip vermilion
92335	STRADA	HP:0000194	Open mouth
92335	STRADA	HP:0000154	Wide mouth
92335	STRADA	HP:0000121	Nephrocalcinosis
92335	STRADA	HP:0002003	Large forehead
92335	STRADA	HP:0002119	Ventriculomegaly
92335	STRADA	HP:0002133	Status epilepticus
92335	STRADA	HP:0011968	Feeding difficulties
92335	STRADA	HP:0002384	Focal impaired awareness seizure
92335	STRADA	HP:0002355	Difficulty walking
92335	STRADA	HP:0010804	Tented upper lip vermilion
92335	STRADA	HP:0002307	Drooling
92335	STRADA	HP:0006829	Severe muscular hypotonia
92335	STRADA	HP:0011344	Severe global developmental delay
92335	STRADA	HP:0001999	Abnormal facial shape
92335	STRADA	HP:0030680	Abnormality of cardiovascular system morphology
92335	STRADA	HP:0003199	Decreased muscle mass
92335	STRADA	HP:0000873	Diabetes insipidus
92335	STRADA	HP:0030891	Periventricular white matter hyperintensities
92335	STRADA	HP:0000297	Facial hypotonia
92335	STRADA	HP:0000256	Macrocephaly
92335	STRADA	HP:0000275	Narrow face
92335	STRADA	HP:0000276	Long face
92335	STRADA	HP:0000215	Thick upper lip vermilion
92335	STRADA	HP:0001561	Polyhydramnios
92335	STRADA	HP:0001533	Slender build
92335	STRADA	HP:0001508	Failure to thrive
92335	STRADA	HP:0012371	Hyperplasia of midface
92335	STRADA	HP:0000348	High forehead
92335	STRADA	HP:0000316	Hypertelorism
92335	STRADA	HP:0001622	Premature birth
92335	STRADA	HP:0001635	Congestive heart failure
92335	STRADA	HP:0001631	Atrial septal defect
92335	STRADA	HP:0011182	Interictal epileptiform activity
92335	STRADA	HP:0000486	Strabismus
92335	STRADA	HP:0012469	Infantile spasms
92335	STRADA	HP:0012430	Cerebral white matter hypoplasia
92335	STRADA	HP:0000431	Wide nasal bridge
92344	GORAB	HP:0001187	Hyperextensibility of the finger joints
92344	GORAB	HP:0001256	Intellectual disability, mild
92344	GORAB	HP:0001252	Hypotonia
92344	GORAB	HP:0001249	Intellectual disability
92344	GORAB	HP:0001263	Global developmental delay
92344	GORAB	HP:0007414	Neonatal wrinkled skin of hands and feet
92344	GORAB	HP:0007495	Prematurely aged appearance
92344	GORAB	HP:0002659	Increased susceptibility to fractures
92344	GORAB	HP:0000007	Autosomal recessive inheritance
92344	GORAB	HP:0002650	Scoliosis
92344	GORAB	HP:0002645	Wormian bones
92344	GORAB	HP:0000164	Abnormality of the dentition
92344	GORAB	HP:0002783	Recurrent lower respiratory tract infections
92344	GORAB	HP:0002757	Recurrent fractures
92344	GORAB	HP:0002751	Kyphoscoliosis
92344	GORAB	HP:0003312	Abnormal form of the vertebral bodies
92344	GORAB	HP:0003301	Irregular vertebral endplates
92344	GORAB	HP:0005930	Abnormal epiphysis morphology
92344	GORAB	HP:0011849	Abnormal bone ossification
92344	GORAB	HP:0003577	Congenital onset
92344	GORAB	HP:0100790	Hernia
92344	GORAB	HP:0003510	Severe short stature
92344	GORAB	HP:0100678	Premature skin wrinkling
92344	GORAB	HP:0005692	Joint hyperflexibility
92344	GORAB	HP:0000768	Pectus carinatum
92344	GORAB	HP:0000750	Delayed speech and language development
92344	GORAB	HP:0000704	Periodontitis
92344	GORAB	HP:0000926	Platyspondyly
92344	GORAB	HP:0003160	Abnormal isoelectric focusing of serum transferrin
92344	GORAB	HP:0004568	Beaking of vertebral bodies
92344	GORAB	HP:0004586	Biconcave vertebral bodies
92344	GORAB	HP:0000974	Hyperextensible skin
92344	GORAB	HP:0000973	Cutis laxa
92344	GORAB	HP:0000963	Thin skin
92344	GORAB	HP:0000939	Osteoporosis
92344	GORAB	HP:0000938	Osteopenia
92344	GORAB	HP:0001595	Abnormal hair morphology
92344	GORAB	HP:0000272	Malar flattening
92344	GORAB	HP:0002827	Hip dislocation
92344	GORAB	HP:0000252	Microcephaly
92344	GORAB	HP:0001582	Redundant skin
92344	GORAB	HP:0001510	Growth delay
92344	GORAB	HP:0012385	Camptodactyly
92344	GORAB	HP:0002982	Tibial bowing
92344	GORAB	HP:0002980	Femoral bowing
92344	GORAB	HP:0000316	Hypertelorism
92344	GORAB	HP:0000327	Hypoplasia of the maxilla
92344	GORAB	HP:0002953	Vertebral compression fracture
92344	GORAB	HP:0000303	Mandibular prognathia
92344	GORAB	HP:0005328	Progeroid facial appearance
92344	GORAB	HP:0000482	Microcornea
92344	GORAB	HP:0000478	Abnormality of the eye
92344	GORAB	HP:0000494	Downslanted palpebral fissures
92344	GORAB	HP:0000490	Deeply set eye
92344	GORAB	HP:0001763	Pes planus
92344	GORAB	HP:0000504	Abnormality of vision
92344	GORAB	HP:0001883	Talipes
92482	BBIP1	HP:0001156	Brachydactyly
92482	BBIP1	HP:0001162	Postaxial hand polydactyly
92482	BBIP1	HP:0003774	Stage 5 chronic kidney disease
92482	BBIP1	HP:0001249	Intellectual disability
92482	BBIP1	HP:0006101	Finger syndactyly
92482	BBIP1	HP:0008736	Hypoplasia of penis
92482	BBIP1	HP:0008724	Hypoplasia of the ovary
92482	BBIP1	HP:0000083	Renal insufficiency
92482	BBIP1	HP:0001395	Hepatic fibrosis
92482	BBIP1	HP:0000028	Cryptorchidism
92482	BBIP1	HP:0000007	Autosomal recessive inheritance
92482	BBIP1	HP:0000003	Multicystic kidney dysplasia
92482	BBIP1	HP:0000135	Hypogonadism
92482	BBIP1	HP:0000100	Nephrotic syndrome
92482	BBIP1	HP:0002167	Abnormality of speech or vocalization
92482	BBIP1	HP:0002230	Generalized hirsutism
92482	BBIP1	HP:0010747	Medial flaring of the eyebrow
92482	BBIP1	HP:0000639	Nystagmus
92482	BBIP1	HP:0004322	Short stature
92482	BBIP1	HP:0000822	Hypertension
92482	BBIP1	HP:0003202	Skeletal muscle atrophy
92482	BBIP1	HP:0001513	Obesity
92482	BBIP1	HP:0000365	Hearing impairment
92482	BBIP1	HP:0000368	Low-set, posteriorly rotated ears
92482	BBIP1	HP:0000494	Downslanted palpebral fissures
92482	BBIP1	HP:0000470	Short neck
92482	BBIP1	HP:0000426	Prominent nasal bridge
92482	BBIP1	HP:0000518	Cataract
92482	BBIP1	HP:0000510	Rod-cone dystrophy
92482	BBIP1	HP:0000512	Abnormal electroretinogram
92482	BBIP1	HP:0000580	Pigmentary retinopathy
92482	BBIP1	HP:0000556	Retinal dystrophy
92579	G6PC3	HP:0100806	Sepsis
92579	G6PC3	HP:0001263	Global developmental delay
92579	G6PC3	HP:0000023	Inguinal hernia
92579	G6PC3	HP:0000028	Cryptorchidism
92579	G6PC3	HP:0000010	Recurrent urinary tract infections
92579	G6PC3	HP:0000007	Autosomal recessive inheritance
92579	G6PC3	HP:0032435	Neonatal omphalitis
92579	G6PC3	HP:0002619	Varicose veins
92579	G6PC3	HP:0000175	Cleft palate
92579	G6PC3	HP:0012133	Erythroid hypoplasia
92579	G6PC3	HP:0000155	Oral ulcer
92579	G6PC3	HP:0002783	Recurrent lower respiratory tract infections
92579	G6PC3	HP:0002788	Recurrent upper respiratory tract infections
92579	G6PC3	HP:0000126	Hydronephrosis
92579	G6PC3	HP:0001433	Hepatosplenomegaly
92579	G6PC3	HP:0002718	Recurrent bacterial infections
92579	G6PC3	HP:0100525	Urachus fistula
92579	G6PC3	HP:0002092	Pulmonary arterial hypertension
92579	G6PC3	HP:0002093	Respiratory insufficiency
92579	G6PC3	HP:0002240	Hepatomegaly
92579	G6PC3	HP:0004854	Intermittent thrombocytopenia
92579	G6PC3	HP:0002205	Recurrent respiratory infections
92579	G6PC3	HP:0001015	Prominent superficial veins
92579	G6PC3	HP:0010774	Cor triatriatum
92579	G6PC3	HP:0009789	Perianal abscess
92579	G6PC3	HP:0003623	Neonatal onset
92579	G6PC3	HP:0001903	Anemia
92579	G6PC3	HP:0011304	Broad thumb
92579	G6PC3	HP:0000768	Pectus carinatum
92579	G6PC3	HP:0000778	Hypoplasia of the thymus
92579	G6PC3	HP:0003198	Myopathy
92579	G6PC3	HP:0000954	Single transverse palmar crease
92579	G6PC3	HP:0040187	Neonatal sepsis
92579	G6PC3	HP:0030084	Clinodactyly
92579	G6PC3	HP:0000252	Microcephaly
92579	G6PC3	HP:0000218	High palate
92579	G6PC3	HP:0001508	Failure to thrive
92579	G6PC3	HP:0001510	Growth delay
92579	G6PC3	HP:0000388	Otitis media
92579	G6PC3	HP:0000365	Hearing impairment
92579	G6PC3	HP:0001684	Secundum atrial septal defect
92579	G6PC3	HP:0012311	Monocytosis
92579	G6PC3	HP:0001643	Patent ductus arteriosus
92579	G6PC3	HP:0001642	Pulmonic stenosis
92579	G6PC3	HP:0001653	Mitral regurgitation
92579	G6PC3	HP:0012490	Panniculitis
92579	G6PC3	HP:0000407	Sensorineural hearing impairment
92579	G6PC3	HP:0001744	Splenomegaly
92579	G6PC3	HP:0000431	Wide nasal bridge
92579	G6PC3	HP:0001888	Lymphopenia
92579	G6PC3	HP:0001882	Leukopenia
92579	G6PC3	HP:0001873	Thrombocytopenia
92579	G6PC3	HP:0001875	Neutropenia
92609	TIMM50	HP:0002490	Increased CSF lactate
92609	TIMM50	HP:0010864	Intellectual disability, severe
92609	TIMM50	HP:0001298	Encephalopathy
92609	TIMM50	HP:0001290	Generalized hypotonia
92609	TIMM50	HP:0001276	Hypertonia
92609	TIMM50	HP:0001284	Areflexia
92609	TIMM50	HP:0001250	Seizure
92609	TIMM50	HP:0001252	Hypotonia
92609	TIMM50	HP:0001266	Choreoathetosis
92609	TIMM50	HP:0001263	Global developmental delay
92609	TIMM50	HP:0001257	Spasticity
92609	TIMM50	HP:0002521	Hypsarrhythmia
92609	TIMM50	HP:0002500	Abnormal cerebral white matter morphology
92609	TIMM50	HP:0000020	Urinary incontinence
92609	TIMM50	HP:0001347	Hyperreflexia
92609	TIMM50	HP:0001324	Muscle weakness
92609	TIMM50	HP:0001344	Absent speech
92609	TIMM50	HP:0000007	Autosomal recessive inheritance
92609	TIMM50	HP:0003344	3-Methylglutaric aciduria
92609	TIMM50	HP:0002007	Frontal bossing
92609	TIMM50	HP:0002059	Cerebral atrophy
92609	TIMM50	HP:0002151	Increased serum lactate
92609	TIMM50	HP:0002133	Status epilepticus
92609	TIMM50	HP:0011925	Decreased activity of mitochondrial ATP synthase complex
92609	TIMM50	HP:0002194	Delayed gross motor development
92609	TIMM50	HP:0002169	Clonus
92609	TIMM50	HP:0002167	Abnormality of speech or vocalization
92609	TIMM50	HP:0003593	Infantile onset
92609	TIMM50	HP:0003535	3-Methylglutaconic aciduria
92609	TIMM50	HP:0002353	EEG abnormality
92609	TIMM50	HP:0007204	Diffuse white matter abnormalities
92609	TIMM50	HP:0000648	Optic atrophy
92609	TIMM50	HP:0031936	Delayed ability to walk
92609	TIMM50	HP:0000750	Delayed speech and language development
92609	TIMM50	HP:0000718	Aggressive behavior
92609	TIMM50	HP:0000218	High palate
92609	TIMM50	HP:0001533	Slender build
92609	TIMM50	HP:0001508	Failure to thrive
92609	TIMM50	HP:0011097	Epileptic spasm
92609	TIMM50	HP:0006610	Wide intermamillary distance
92609	TIMM50	HP:0032988	Persistent head lag
92609	TIMM50	HP:0000486	Strabismus
92609	TIMM50	HP:0000470	Short neck
92609	TIMM50	HP:0000527	Long eyelashes
92667	MGME1	HP:0003700	Generalized amyotrophy
92667	MGME1	HP:0001272	Cerebellar atrophy
92667	MGME1	HP:0001249	Intellectual disability
92667	MGME1	HP:0001265	Hyporeflexia
92667	MGME1	HP:0000007	Autosomal recessive inheritance
92667	MGME1	HP:0002747	Respiratory insufficiency due to muscle weakness
92667	MGME1	HP:0002719	Recurrent infections
92667	MGME1	HP:0002018	Nausea
92667	MGME1	HP:0002028	Chronic diarrhea
92667	MGME1	HP:0002014	Diarrhea
92667	MGME1	HP:0002015	Dysphagia
92667	MGME1	HP:0003306	Spinal rigidity
92667	MGME1	HP:0002094	Dyspnea
92667	MGME1	HP:0002093	Respiratory insufficiency
92667	MGME1	HP:0003388	Easy fatigability
92667	MGME1	HP:0011923	Decreased activity of mitochondrial complex I
92667	MGME1	HP:0003546	Exercise intolerance
92667	MGME1	HP:0008347	Decreased activity of mitochondrial complex IV
92667	MGME1	HP:0010628	Facial palsy
92667	MGME1	HP:0003689	Multiple mitochondrial DNA deletions
92667	MGME1	HP:0003676	Progressive
92667	MGME1	HP:0007126	Proximal amyotrophy
92667	MGME1	HP:0008443	Neuropathic spinal arthropathy
92667	MGME1	HP:0003621	Juvenile onset
92667	MGME1	HP:0000651	Diplopia
92667	MGME1	HP:0004396	Poor appetite
92667	MGME1	HP:0011462	Young adult onset
92667	MGME1	HP:0000787	Nephrolithiasis
92667	MGME1	HP:0003198	Myopathy
92667	MGME1	HP:0000815	Hypergonadotropic hypogonadism
92667	MGME1	HP:0040013	Decreased mitochondrial number
92667	MGME1	HP:0003236	Elevated circulating creatine kinase concentration
92667	MGME1	HP:0003200	Ragged-red muscle fibers
92667	MGME1	HP:0011675	Arrhythmia
92667	MGME1	HP:0002808	Kyphosis
92667	MGME1	HP:0000252	Microcephaly
92667	MGME1	HP:0002878	Respiratory failure
92667	MGME1	HP:0001618	Dysphonia
92667	MGME1	HP:0001611	Hypernasal speech
92667	MGME1	HP:0001644	Dilated cardiomyopathy
92667	MGME1	HP:0030319	Weakness of facial musculature
92667	MGME1	HP:0000508	Ptosis
92667	MGME1	HP:0000590	Progressive external ophthalmoplegia
92749	DRC1	HP:0025177	Peribronchovascular interstitial thickening
92749	DRC1	HP:0002566	Intestinal malrotation
92749	DRC1	HP:0001217	Clubbing
92749	DRC1	HP:0000007	Autosomal recessive inheritance
92749	DRC1	HP:0002643	Neonatal respiratory distress
92749	DRC1	HP:0000119	Abnormality of the genitourinary system
92749	DRC1	HP:0032543	Lithoptysis
92749	DRC1	HP:0031245	Productive cough
92749	DRC1	HP:0002011	Morphological central nervous system abnormality
92749	DRC1	HP:0100582	Nasal polyposis
92749	DRC1	HP:0002119	Ventriculomegaly
92749	DRC1	HP:0002110	Bronchiectasis
92749	DRC1	HP:0008222	Female infertility
92749	DRC1	HP:0003593	Infantile onset
92749	DRC1	HP:0002257	Chronic rhinitis
92749	DRC1	HP:0100750	Atelectasis
92749	DRC1	HP:0032016	Abnormal sputum
92749	DRC1	HP:0011947	Respiratory tract infection
92749	DRC1	HP:0010772	Anomalous pulmonary venous return
92749	DRC1	HP:0003623	Neonatal onset
92749	DRC1	HP:0030680	Abnormality of cardiovascular system morphology
92749	DRC1	HP:0000750	Delayed speech and language development
92749	DRC1	HP:0000924	Abnormality of the skeletal system
92749	DRC1	HP:0011539	Atrial situs ambiguous
92749	DRC1	HP:0011535	Abnormal atrial arrangement
92749	DRC1	HP:0030828	Wheezing
92749	DRC1	HP:0003251	Male infertility
92749	DRC1	HP:0011617	Pulmonary situs ambiguus
92749	DRC1	HP:0033036	Decreased nasal nitric oxide
92749	DRC1	HP:0025576	Abnormal inferior vena cava morphology
92749	DRC1	HP:0012265	Ciliary dyskinesia
92749	DRC1	HP:0000238	Hydrocephalus
92749	DRC1	HP:0012206	Abnormal sperm motility
92749	DRC1	HP:0002878	Respiratory failure
92749	DRC1	HP:0000389	Chronic otitis media
92749	DRC1	HP:0006532	Recurrent pneumonia
92749	DRC1	HP:0006536	Airway obstruction
92749	DRC1	HP:0001696	Situs inversus totalis
92749	DRC1	HP:0000365	Hearing impairment
92749	DRC1	HP:0001669	Transposition of the great arteries
92749	DRC1	HP:0031456	Ectopic pregnancy
92749	DRC1	HP:0001627	Abnormal heart morphology
92749	DRC1	HP:0005301	Persistent left superior vena cava
92749	DRC1	HP:0000403	Recurrent otitis media
92749	DRC1	HP:0000405	Conductive hearing impairment
92749	DRC1	HP:0001719	Double outlet right ventricle
92749	DRC1	HP:0011109	Chronic sinusitis
92749	DRC1	HP:0001746	Asplenia
92749	DRC1	HP:0001748	Polysplenia
92749	DRC1	HP:0001742	Nasal congestion
92749	DRC1	HP:0005425	Recurrent sinopulmonary infections
92749	DRC1	HP:0011274	Recurrent mycobacterial infections
92749	DRC1	HP:0000510	Rod-cone dystrophy
92840	REEP6	HP:0001133	Constriction of peripheral visual field
92840	REEP6	HP:0001105	Retinal atrophy
92840	REEP6	HP:0001249	Intellectual disability
92840	REEP6	HP:0008736	Hypoplasia of penis
92840	REEP6	HP:0001347	Hyperreflexia
92840	REEP6	HP:0000035	Abnormal testis morphology
92840	REEP6	HP:0000007	Autosomal recessive inheritance
92840	REEP6	HP:0000135	Hypogonadism
92840	REEP6	HP:0007675	Progressive night blindness
92840	REEP6	HP:0007663	Reduced visual acuity
92840	REEP6	HP:0005978	Type II diabetes mellitus
92840	REEP6	HP:0003621	Juvenile onset
92840	REEP6	HP:0000639	Nystagmus
92840	REEP6	HP:0000648	Optic atrophy
92840	REEP6	HP:0000618	Blindness
92840	REEP6	HP:0000613	Photophobia
92840	REEP6	HP:0000602	Ophthalmoplegia
92840	REEP6	HP:0000662	Nyctalopia
92840	REEP6	HP:0011463	Childhood onset
92840	REEP6	HP:0011505	Cystoid macular edema
92840	REEP6	HP:0000842	Hyperinsulinemia
92840	REEP6	HP:0000987	Atypical scarring of skin
92840	REEP6	HP:0008046	Abnormal retinal vascular morphology
92840	REEP6	HP:0007703	Abnormality of retinal pigmentation
92840	REEP6	HP:0007787	Posterior subcapsular cataract
92840	REEP6	HP:0007737	Bone spicule pigmentation of the retina
92840	REEP6	HP:0001513	Obesity
92840	REEP6	HP:0007843	Attenuation of retinal blood vessels
92840	REEP6	HP:0000407	Sensorineural hearing impairment
92840	REEP6	HP:0000405	Conductive hearing impairment
92840	REEP6	HP:0000463	Anteverted nares
92840	REEP6	HP:0000431	Wide nasal bridge
92840	REEP6	HP:0025708	Early young adult onset
92840	REEP6	HP:0000518	Cataract
92840	REEP6	HP:0000510	Rod-cone dystrophy
92840	REEP6	HP:0000512	Abnormal electroretinogram
92840	REEP6	HP:0000505	Visual impairment
92840	REEP6	HP:0000501	Glaucoma
92840	REEP6	HP:0000563	Keratoconus
92935	MARS2	HP:0002497	Spastic ataxia
92935	MARS2	HP:0002464	Spastic dysarthria
92935	MARS2	HP:0008619	Bilateral sensorineural hearing impairment
92935	MARS2	HP:0001290	Generalized hypotonia
92935	MARS2	HP:0001272	Cerebellar atrophy
92935	MARS2	HP:0001256	Intellectual disability, mild
92935	MARS2	HP:0001252	Hypotonia
92935	MARS2	HP:0001251	Ataxia
92935	MARS2	HP:0001260	Dysarthria
92935	MARS2	HP:0001263	Global developmental delay
92935	MARS2	HP:0001257	Spasticity
92935	MARS2	HP:0002505	Loss of ambulation
92935	MARS2	HP:0001347	Hyperreflexia
92935	MARS2	HP:0001332	Dystonia
92935	MARS2	HP:0000011	Neurogenic bladder
92935	MARS2	HP:0000012	Urinary urgency
92935	MARS2	HP:0000007	Autosomal recessive inheritance
92935	MARS2	HP:0001310	Dysmetria
92935	MARS2	HP:0002650	Scoliosis
92935	MARS2	HP:0001321	Cerebellar hypoplasia
92935	MARS2	HP:0002617	Vascular dilatation
92935	MARS2	HP:0100543	Cognitive impairment
92935	MARS2	HP:0002066	Gait ataxia
92935	MARS2	HP:0002073	Progressive cerebellar ataxia
92935	MARS2	HP:0002059	Cerebral atrophy
92935	MARS2	HP:0002120	Cerebral cortical atrophy
92935	MARS2	HP:0003596	Middle age onset
92935	MARS2	HP:0003577	Congenital onset
92935	MARS2	HP:0011968	Feeding difficulties
92935	MARS2	HP:0002352	Leukoencephalopathy
92935	MARS2	HP:0003621	Juvenile onset
92935	MARS2	HP:0006855	Cerebellar vermis atrophy
92935	MARS2	HP:0000666	Horizontal nystagmus
92935	MARS2	HP:0004322	Short stature
92935	MARS2	HP:0000768	Pectus carinatum
92935	MARS2	HP:0011463	Childhood onset
92935	MARS2	HP:0011462	Young adult onset
92935	MARS2	HP:0003196	Short nose
92935	MARS2	HP:0000824	Decreased response to growth hormone stimulation test
92935	MARS2	HP:0000365	Hearing impairment
92935	MARS2	HP:0000369	Low-set ears
92935	MARS2	HP:0000343	Long philtrum
92935	MARS2	HP:0000316	Hypertelorism
92935	MARS2	HP:0005280	Depressed nasal bridge
92935	MARS2	HP:0000463	Anteverted nares
92935	MARS2	HP:0000431	Wide nasal bridge
92949	ADAMTSL1	HP:0001182	Tapered finger
92949	ADAMTSL1	HP:0008619	Bilateral sensorineural hearing impairment
92949	ADAMTSL1	HP:0100807	Long fingers
92949	ADAMTSL1	HP:0000077	Abnormality of the kidney
92949	ADAMTSL1	HP:0005990	Thyroid hypoplasia
92949	ADAMTSL1	HP:0002076	Migraine
92949	ADAMTSL1	HP:0010490	Abnormality of the palmar creases
92949	ADAMTSL1	HP:0020038	Vertebrobasilar dolichoectasia
92949	ADAMTSL1	HP:0010804	Tented upper lip vermilion
92949	ADAMTSL1	HP:0000696	Delayed eruption of permanent teeth
92949	ADAMTSL1	HP:0000787	Nephrolithiasis
92949	ADAMTSL1	HP:0000851	Congenital hypothyroidism
92949	ADAMTSL1	HP:0008007	Primary congenital glaucoma
92949	ADAMTSL1	HP:0000252	Microcephaly
92949	ADAMTSL1	HP:0000248	Brachycephaly
92949	ADAMTSL1	HP:0000321	Square face
92949	ADAMTSL1	HP:0000322	Short philtrum
92949	ADAMTSL1	HP:0000303	Mandibular prognathia
92949	ADAMTSL1	HP:0000400	Macrotia
92949	ADAMTSL1	HP:0012448	Delayed myelination
92949	ADAMTSL1	HP:0000431	Wide nasal bridge
92949	ADAMTSL1	HP:0005487	Prominent metopic ridge
92949	ADAMTSL1	HP:0001848	Calcaneovalgus deformity
92949	ADAMTSL1	HP:0000558	Rieger anomaly
92949	ADAMTSL1	HP:0000557	Buphthalmos
92949	ADAMTSL1	HP:0000541	Retinal detachment
92949	ADAMTSL1	HP:0000545	Myopia
93166	PRDM6	HP:0000006	Autosomal dominant inheritance
93166	PRDM6	HP:0001643	Patent ductus arteriosus
93183	PIGM	HP:0000007	Autosomal recessive inheritance
93183	PIGM	HP:0001409	Portal hypertension
93183	PIGM	HP:0002121	Generalized non-motor (absence) seizure
93183	PIGM	HP:0003593	Infantile onset
93183	PIGM	HP:0002240	Hepatomegaly
93183	PIGM	HP:0010819	Atonic seizure
93183	PIGM	HP:0004936	Venous thrombosis
93183	PIGM	HP:0005561	Abnormality of bone marrow cell morphology
93183	PIGM	HP:0000750	Delayed speech and language development
93183	PIGM	HP:0011463	Childhood onset
93183	PIGM	HP:0031555	Reduced granulocyte CD59 level
93183	PIGM	HP:0030243	Hepatic vein thrombosis
93183	PIGM	HP:0030242	Portal vein thrombosis
93183	PIGM	HP:0001744	Splenomegaly
93210	PGAP3	HP:0001195	Single umbilical artery
93210	PGAP3	HP:0010864	Intellectual disability, severe
93210	PGAP3	HP:0010850	EEG with spike-wave complexes
93210	PGAP3	HP:0003763	Bruxism
93210	PGAP3	HP:0001288	Gait disturbance
93210	PGAP3	HP:0001250	Seizure
93210	PGAP3	HP:0001252	Hypotonia
93210	PGAP3	HP:0001251	Ataxia
93210	PGAP3	HP:0001249	Intellectual disability
93210	PGAP3	HP:0001263	Global developmental delay
93210	PGAP3	HP:0002558	Supernumerary nipple
93210	PGAP3	HP:0006118	Shortening of all distal phalanges of the fingers
93210	PGAP3	HP:0002540	Inability to walk
93210	PGAP3	HP:0002553	Highly arched eyebrow
93210	PGAP3	HP:0001385	Hip dysplasia
93210	PGAP3	HP:0002696	Abnormal parietal bone morphology
93210	PGAP3	HP:0001357	Plagiocephaly
93210	PGAP3	HP:0033725	Thin corpus callosum
93210	PGAP3	HP:0001344	Absent speech
93210	PGAP3	HP:0000007	Autosomal recessive inheritance
93210	PGAP3	HP:0001336	Myoclonus
93210	PGAP3	HP:0002650	Scoliosis
93210	PGAP3	HP:0001315	Reduced tendon reflexes
93210	PGAP3	HP:0000193	Bifid uvula
93210	PGAP3	HP:0000175	Cleft palate
93210	PGAP3	HP:0008947	Infantile muscular hypotonia
93210	PGAP3	HP:0000126	Hydronephrosis
93210	PGAP3	HP:0002714	Downturned corners of mouth
93210	PGAP3	HP:0002069	Bilateral tonic-clonic seizure
93210	PGAP3	HP:0002194	Delayed gross motor development
93210	PGAP3	HP:0003593	Infantile onset
93210	PGAP3	HP:0002251	Aganglionic megacolon
93210	PGAP3	HP:0009748	Large earlobe
93210	PGAP3	HP:0002392	EEG with polyspike wave complexes
93210	PGAP3	HP:0002342	Intellectual disability, moderate
93210	PGAP3	HP:0001009	Telangiectasia
93210	PGAP3	HP:0010804	Tented upper lip vermilion
93210	PGAP3	HP:0006808	Cerebral hypomyelination
93210	PGAP3	HP:0000637	Long palpebral fissure
93210	PGAP3	HP:0000657	Oculomotor apraxia
93210	PGAP3	HP:0001999	Abnormal facial shape
93210	PGAP3	HP:0006956	Lateral ventricle dilatation
93210	PGAP3	HP:0004305	Involuntary movements
93210	PGAP3	HP:0000767	Pectus excavatum
93210	PGAP3	HP:0000729	Autistic behavior
93210	PGAP3	HP:0011471	Gastrostomy tube feeding in infancy
93210	PGAP3	HP:0003196	Short nose
93210	PGAP3	HP:0003155	Elevated circulating alkaline phosphatase concentration
93210	PGAP3	HP:0040194	Increased head circumference
93210	PGAP3	HP:0040195	Decreased head circumference
93210	PGAP3	HP:0000286	Epicanthus
93210	PGAP3	HP:0000280	Coarse facial features
93210	PGAP3	HP:0000289	Broad philtrum
93210	PGAP3	HP:0030084	Clinodactyly
93210	PGAP3	HP:0000252	Microcephaly
93210	PGAP3	HP:0000248	Brachycephaly
93210	PGAP3	HP:0000219	Thin upper lip vermilion
93210	PGAP3	HP:0000218	High palate
93210	PGAP3	HP:0001545	Anteriorly placed anus
93210	PGAP3	HP:0001562	Oligohydramnios
93210	PGAP3	HP:0001510	Growth delay
93210	PGAP3	HP:0000378	Cupped ear
93210	PGAP3	HP:0000391	Thickened helices
93210	PGAP3	HP:0000347	Micrognathia
93210	PGAP3	HP:0032794	Myoclonic seizure
93210	PGAP3	HP:0000316	Hypertelorism
93210	PGAP3	HP:0000311	Round face
93210	PGAP3	HP:0000322	Short philtrum
93210	PGAP3	HP:0000303	Mandibular prognathia
93210	PGAP3	HP:0001792	Small nail
93210	PGAP3	HP:0000455	Broad nasal tip
93210	PGAP3	HP:0000470	Short neck
93210	PGAP3	HP:0000414	Bulbous nose
93210	PGAP3	HP:0000431	Wide nasal bridge
93210	PGAP3	HP:0000426	Prominent nasal bridge
93210	PGAP3	HP:0000582	Upslanted palpebral fissure
93210	PGAP3	HP:0000594	Shallow anterior chamber
93210	PGAP3	HP:0000565	Esotropia
93210	PGAP3	HP:0000540	Hypermetropia
93233	ODAD1	HP:0025177	Peribronchovascular interstitial thickening
93233	ODAD1	HP:0002566	Intestinal malrotation
93233	ODAD1	HP:0001217	Clubbing
93233	ODAD1	HP:0000007	Autosomal recessive inheritance
93233	ODAD1	HP:0002643	Neonatal respiratory distress
93233	ODAD1	HP:0000144	Decreased fertility
93233	ODAD1	HP:0000119	Abnormality of the genitourinary system
93233	ODAD1	HP:0032543	Lithoptysis
93233	ODAD1	HP:0031245	Productive cough
93233	ODAD1	HP:0002011	Morphological central nervous system abnormality
93233	ODAD1	HP:0100582	Nasal polyposis
93233	ODAD1	HP:0002119	Ventriculomegaly
93233	ODAD1	HP:0002110	Bronchiectasis
93233	ODAD1	HP:0008222	Female infertility
93233	ODAD1	HP:0002257	Chronic rhinitis
93233	ODAD1	HP:0002205	Recurrent respiratory infections
93233	ODAD1	HP:0100750	Atelectasis
93233	ODAD1	HP:0032016	Abnormal sputum
93233	ODAD1	HP:0011947	Respiratory tract infection
93233	ODAD1	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
93233	ODAD1	HP:0010772	Anomalous pulmonary venous return
93233	ODAD1	HP:0030680	Abnormality of cardiovascular system morphology
93233	ODAD1	HP:0012735	Cough
93233	ODAD1	HP:0000750	Delayed speech and language development
93233	ODAD1	HP:0000924	Abnormality of the skeletal system
93233	ODAD1	HP:0011539	Atrial situs ambiguous
93233	ODAD1	HP:0011535	Abnormal atrial arrangement
93233	ODAD1	HP:0030828	Wheezing
93233	ODAD1	HP:0003251	Male infertility
93233	ODAD1	HP:0011617	Pulmonary situs ambiguus
93233	ODAD1	HP:0025576	Abnormal inferior vena cava morphology
93233	ODAD1	HP:0012265	Ciliary dyskinesia
93233	ODAD1	HP:0012256	Absent outer dynein arms
93233	ODAD1	HP:0031417	Rhinorrhea
93233	ODAD1	HP:0000238	Hydrocephalus
93233	ODAD1	HP:0012206	Abnormal sperm motility
93233	ODAD1	HP:0002878	Respiratory failure
93233	ODAD1	HP:0000389	Chronic otitis media
93233	ODAD1	HP:0006532	Recurrent pneumonia
93233	ODAD1	HP:0006536	Airway obstruction
93233	ODAD1	HP:0001696	Situs inversus totalis
93233	ODAD1	HP:0000365	Hearing impairment
93233	ODAD1	HP:0001669	Transposition of the great arteries
93233	ODAD1	HP:0031456	Ectopic pregnancy
93233	ODAD1	HP:0001651	Dextrocardia
93233	ODAD1	HP:0001627	Abnormal heart morphology
93233	ODAD1	HP:0005301	Persistent left superior vena cava
93233	ODAD1	HP:0000403	Recurrent otitis media
93233	ODAD1	HP:0000405	Conductive hearing impairment
93233	ODAD1	HP:0001719	Double outlet right ventricle
93233	ODAD1	HP:0011109	Chronic sinusitis
93233	ODAD1	HP:0011108	Recurrent sinusitis
93233	ODAD1	HP:0001746	Asplenia
93233	ODAD1	HP:0001748	Polysplenia
93233	ODAD1	HP:0001742	Nasal congestion
93233	ODAD1	HP:0005425	Recurrent sinopulmonary infections
93233	ODAD1	HP:0011274	Recurrent mycobacterial infections
93233	ODAD1	HP:0000510	Rod-cone dystrophy
93426	SYCE1	HP:0008734	Decreased testicular size
93426	SYCE1	HP:0031038	Spermatogenesis maturation arrest
93426	SYCE1	HP:0008669	Abnormal spermatogenesis
93426	SYCE1	HP:0000027	Azoospermia
93426	SYCE1	HP:0000007	Autosomal recessive inheritance
93426	SYCE1	HP:0000118	Phenotypic abnormality
93426	SYCE1	HP:0011961	Non-obstructive azoospermia
93426	SYCE1	HP:0011962	Obstructive azoospermia
93426	SYCE1	HP:0011462	Young adult onset
93426	SYCE1	HP:0000786	Primary amenorrhea
93426	SYCE1	HP:0000837	Increased circulating gonadotropin level
93426	SYCE1	HP:0003251	Male infertility
93426	SYCE1	HP:0007754	Macular dystrophy
93426	SYCE1	HP:0030087	Abnormal circulating testosterone concentration
93426	SYCE1	HP:0030346	Abnormal circulating follicle-stimulating hormone concentration
93426	SYCE1	HP:0030345	Abnormal circulating luteinizing hormone concentration
93426	SYCE1	HP:0000568	Microphthalmia
93587	TRMT10A	HP:0002465	Poor speech
93587	TRMT10A	HP:0002460	Distal muscle weakness
93587	TRMT10A	HP:0007258	Severe demyelination of the white matter
93587	TRMT10A	HP:0010864	Intellectual disability, severe
93587	TRMT10A	HP:0001270	Motor delay
93587	TRMT10A	HP:0001250	Seizure
93587	TRMT10A	HP:0001249	Intellectual disability
93587	TRMT10A	HP:0001263	Global developmental delay
93587	TRMT10A	HP:0001238	Slender finger
93587	TRMT10A	HP:0025383	Dorsocervical fat pad
93587	TRMT10A	HP:0001388	Joint laxity
93587	TRMT10A	HP:0001348	Brisk reflexes
93587	TRMT10A	HP:0008850	Severe postnatal growth retardation
93587	TRMT10A	HP:0000007	Autosomal recessive inheritance
93587	TRMT10A	HP:0002650	Scoliosis
93587	TRMT10A	HP:0001321	Cerebellar hypoplasia
93587	TRMT10A	HP:0000160	Narrow mouth
93587	TRMT10A	HP:0008936	Axial hypotonia
93587	TRMT10A	HP:0002751	Kyphoscoliosis
93587	TRMT10A	HP:0002714	Downturned corners of mouth
93587	TRMT10A	HP:0002079	Hypoplasia of the corpus callosum
93587	TRMT10A	HP:0002121	Generalized non-motor (absence) seizure
93587	TRMT10A	HP:0002136	Broad-based gait
93587	TRMT10A	HP:0003577	Congenital onset
93587	TRMT10A	HP:0002213	Fine hair
93587	TRMT10A	HP:5000011	Anti-GAD65 antibody
93587	TRMT10A	HP:0003508	Proportionate short stature
93587	TRMT10A	HP:0002365	Hypoplasia of the brainstem
93587	TRMT10A	HP:0002313	Spastic paraparesis
93587	TRMT10A	HP:0200021	Down-sloping shoulders
93587	TRMT10A	HP:0001943	Hypoglycemia
93587	TRMT10A	HP:0001946	Ketosis
93587	TRMT10A	HP:0000601	Hypotelorism
93587	TRMT10A	HP:0000677	Oligodontia
93587	TRMT10A	HP:0000685	Hypoplasia of teeth
93587	TRMT10A	HP:0011308	Slender toe
93587	TRMT10A	HP:0001999	Abnormal facial shape
93587	TRMT10A	HP:0000664	Synophrys
93587	TRMT10A	HP:0004325	Decreased body weight
93587	TRMT10A	HP:0004322	Short stature
93587	TRMT10A	HP:0000767	Pectus excavatum
93587	TRMT10A	HP:0011451	Primary microcephaly
93587	TRMT10A	HP:0000786	Primary amenorrhea
93587	TRMT10A	HP:0003196	Short nose
93587	TRMT10A	HP:0000819	Diabetes mellitus
93587	TRMT10A	HP:0000825	Hyperinsulinemic hypoglycemia
93587	TRMT10A	HP:0000821	Hypothyroidism
93587	TRMT10A	HP:0000823	Delayed puberty
93587	TRMT10A	HP:0000939	Osteoporosis
93587	TRMT10A	HP:0008081	Pes valgus
93587	TRMT10A	HP:0008070	Sparse hair
93587	TRMT10A	HP:0010344	Deviation of the 5th toe
93587	TRMT10A	HP:0000286	Epicanthus
93587	TRMT10A	HP:0000293	Full cheeks
93587	TRMT10A	HP:0000294	Low anterior hairline
93587	TRMT10A	HP:0000275	Narrow face
93587	TRMT10A	HP:0000274	Small face
93587	TRMT10A	HP:0030084	Clinodactyly
93587	TRMT10A	HP:0000252	Microcephaly
93587	TRMT10A	HP:0025515	Delayed thelarche
93587	TRMT10A	HP:0000219	Thin upper lip vermilion
93587	TRMT10A	HP:0001518	Small for gestational age
93587	TRMT10A	HP:0001511	Intrauterine growth retardation
93587	TRMT10A	HP:0000341	Narrow forehead
93587	TRMT10A	HP:0000343	Long philtrum
93587	TRMT10A	HP:0000347	Micrognathia
93587	TRMT10A	HP:0000311	Round face
93587	TRMT10A	HP:0000322	Short philtrum
93587	TRMT10A	HP:0001620	High pitched voice
93587	TRMT10A	HP:0000407	Sensorineural hearing impairment
93587	TRMT10A	HP:0000400	Macrotia
93587	TRMT10A	HP:0000494	Downslanted palpebral fissures
93587	TRMT10A	HP:0000463	Anteverted nares
93587	TRMT10A	HP:0012448	Delayed myelination
93587	TRMT10A	HP:0000470	Short neck
93587	TRMT10A	HP:0000445	Wide nose
93587	TRMT10A	HP:0000592	Blue sclerae
93589	CACNA2D4	HP:0001133	Constriction of peripheral visual field
93589	CACNA2D4	HP:0000007	Autosomal recessive inheritance
93589	CACNA2D4	HP:0007663	Reduced visual acuity
93589	CACNA2D4	HP:0000639	Nystagmus
93589	CACNA2D4	HP:0000613	Photophobia
93589	CACNA2D4	HP:0030469	Abnormal dark-adapted electroretinogram
93589	CACNA2D4	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
93589	CACNA2D4	HP:0000662	Nyctalopia
93589	CACNA2D4	HP:0030639	Congenital stationary night blindness with abnormal fundus
93589	CACNA2D4	HP:0030638	Congenital stationary night blindness with normal fundus
93589	CACNA2D4	HP:0007703	Abnormality of retinal pigmentation
93589	CACNA2D4	HP:0007814	Retinal pigment epithelial mottling
93589	CACNA2D4	HP:0030329	Retinal thinning
93589	CACNA2D4	HP:0007984	Electronegative electroretinogram
93589	CACNA2D4	HP:0000486	Strabismus
93589	CACNA2D4	HP:0031705	Compensatory head posture
93589	CACNA2D4	HP:0000505	Visual impairment
93589	CACNA2D4	HP:0000540	Hypermetropia
93589	CACNA2D4	HP:0000551	Color vision defect
93589	CACNA2D4	HP:0000548	Cone/cone-rod dystrophy
93589	CACNA2D4	HP:0000545	Myopia
93627	TBCK	HP:0002465	Poor speech
93627	TBCK	HP:0010945	Fetal pyelectasis
93627	TBCK	HP:0007302	Bipolar affective disorder
93627	TBCK	HP:0001298	Encephalopathy
93627	TBCK	HP:0001284	Areflexia
93627	TBCK	HP:0001250	Seizure
93627	TBCK	HP:0001265	Hyporeflexia
93627	TBCK	HP:0001263	Global developmental delay
93627	TBCK	HP:0002540	Inability to walk
93627	TBCK	HP:0002553	Highly arched eyebrow
93627	TBCK	HP:0002518	Abnormal periventricular white matter morphology
93627	TBCK	HP:0003828	Variable expressivity
93627	TBCK	HP:0000028	Cryptorchidism
93627	TBCK	HP:0031165	Multifocal seizures
93627	TBCK	HP:0000011	Neurogenic bladder
93627	TBCK	HP:0000007	Autosomal recessive inheritance
93627	TBCK	HP:0001320	Cerebellar vermis hypoplasia
93627	TBCK	HP:0002650	Scoliosis
93627	TBCK	HP:0001321	Cerebellar hypoplasia
93627	TBCK	HP:0001319	Neonatal hypotonia
93627	TBCK	HP:0001315	Reduced tendon reflexes
93627	TBCK	HP:0000158	Macroglossia
93627	TBCK	HP:0002705	High, narrow palate
93627	TBCK	HP:0002750	Delayed skeletal maturation
93627	TBCK	HP:0004691	2-3 toe syndactyly
93627	TBCK	HP:0003323	Progressive muscle weakness
93627	TBCK	HP:0100543	Cognitive impairment
93627	TBCK	HP:0002099	Asthma
93627	TBCK	HP:0002093	Respiratory insufficiency
93627	TBCK	HP:0002079	Hypoplasia of the corpus callosum
93627	TBCK	HP:0002045	Hypothermia
93627	TBCK	HP:0002059	Cerebral atrophy
93627	TBCK	HP:0011734	Central adrenal insufficiency
93627	TBCK	HP:0002119	Ventriculomegaly
93627	TBCK	HP:0003444	EMG: chronic denervation signs
93627	TBCK	HP:0002263	Exaggerated cupid's bow
93627	TBCK	HP:0003577	Congenital onset
93627	TBCK	HP:0100704	Cerebral visual impairment
93627	TBCK	HP:0002283	Global brain atrophy
93627	TBCK	HP:0002376	Developmental regression
93627	TBCK	HP:0001007	Hirsutism
93627	TBCK	HP:0009826	Limb undergrowth
93627	TBCK	HP:0010804	Tented upper lip vermilion
93627	TBCK	HP:0006829	Severe muscular hypotonia
93627	TBCK	HP:0000639	Nystagmus
93627	TBCK	HP:0012697	Small basal ganglia
93627	TBCK	HP:0011344	Severe global developmental delay
93627	TBCK	HP:0001999	Abnormal facial shape
93627	TBCK	HP:0000664	Synophrys
93627	TBCK	HP:0006989	Dysplastic corpus callosum
93627	TBCK	HP:0006970	Periventricular leukomalacia
93627	TBCK	HP:0012736	Profound global developmental delay
93627	TBCK	HP:0000767	Pectus excavatum
93627	TBCK	HP:0000750	Delayed speech and language development
93627	TBCK	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
93627	TBCK	HP:0000717	Autism
93627	TBCK	HP:0011471	Gastrostomy tube feeding in infancy
93627	TBCK	HP:0003119	Abnormal circulating lipid concentration
93627	TBCK	HP:0000878	11 pairs of ribs
93627	TBCK	HP:0000836	Hyperthyroidism
93627	TBCK	HP:0000821	Hypothyroidism
93627	TBCK	HP:0000824	Decreased response to growth hormone stimulation test
93627	TBCK	HP:0003202	Skeletal muscle atrophy
93627	TBCK	HP:0100288	EMG: myokymic discharges
93627	TBCK	HP:0000964	Eczema
93627	TBCK	HP:0000939	Osteoporosis
93627	TBCK	HP:0000286	Epicanthus
93627	TBCK	HP:0000280	Coarse facial features
93627	TBCK	HP:0000256	Macrocephaly
93627	TBCK	HP:0030084	Clinodactyly
93627	TBCK	HP:0000252	Microcephaly
93627	TBCK	HP:0000212	Gingival overgrowth
93627	TBCK	HP:0001562	Oligohydramnios
93627	TBCK	HP:0001558	Decreased fetal movement
93627	TBCK	HP:0001540	Diastasis recti
93627	TBCK	HP:0001500	Broad finger
93627	TBCK	HP:0000341	Narrow forehead
93627	TBCK	HP:0000340	Sloping forehead
93627	TBCK	HP:0000343	Long philtrum
93627	TBCK	HP:0000337	Broad forehead
93627	TBCK	HP:0001642	Pulmonic stenosis
93627	TBCK	HP:0001629	Ventricular septal defect
93627	TBCK	HP:0000303	Mandibular prognathia
93627	TBCK	HP:0007957	Corneal opacity
93627	TBCK	HP:0011198	EEG with generalized epileptiform discharges
93627	TBCK	HP:0000407	Sensorineural hearing impairment
93627	TBCK	HP:0000486	Strabismus
93627	TBCK	HP:0012471	Thick vermilion border
93627	TBCK	HP:0000490	Deeply set eye
93627	TBCK	HP:0000463	Anteverted nares
93627	TBCK	HP:0012444	Brain atrophy
93627	TBCK	HP:0000470	Short neck
93627	TBCK	HP:0000414	Bulbous nose
93627	TBCK	HP:0000431	Wide nasal bridge
93627	TBCK	HP:0000426	Prominent nasal bridge
93627	TBCK	HP:0005487	Prominent metopic ridge
93627	TBCK	HP:0001837	Broad toe
93627	TBCK	HP:0000582	Upslanted palpebral fissure
93627	TBCK	HP:0012547	Abnormal involuntary eye movements
93627	TBCK	HP:0000574	Thick eyebrow
93627	TBCK	HP:0012510	Extra-axial cerebrospinal fluid accumulation
93649	MYOCD	HP:0003774	Stage 5 chronic kidney disease
93649	MYOCD	HP:0010956	Fetal megacystis
93649	MYOCD	HP:0000006	Autosomal dominant inheritance
93649	MYOCD	HP:0004719	Hyperechogenic kidneys
93649	MYOCD	HP:0100611	Multiple glomerular cysts
93649	MYOCD	HP:0011664	Left ventricular noncompaction cardiomyopathy
93649	MYOCD	HP:0001647	Bicuspid aortic valve
93649	MYOCD	HP:0001643	Patent ductus arteriosus
93649	MYOCD	HP:0001629	Ventricular septal defect
93649	MYOCD	HP:0001631	Atrial septal defect
93650	ACP4	HP:0000007	Autosomal recessive inheritance
93650	ACP4	HP:0006297	Enamel hypoplasia
93650	ACP4	HP:0000687	Widely spaced teeth
93650	ACP4	HP:0000670	Carious teeth
93650	ACP4	HP:0000705	Amelogenesis imperfecta
93650	ACP4	HP:0010299	Abnormal dentin morphology
93650	ACP4	HP:0011094	Increased overbite
93953	GCNA	HP:0000027	Azoospermia
93953	GCNA	HP:0001417	X-linked inheritance
93953	GCNA	HP:0008232	Elevated circulating follicle stimulating hormone level
93953	GCNA	HP:0011969	Elevated circulating luteinizing hormone level
93953	GCNA	HP:0011462	Young adult onset
93953	GCNA	HP:0040086	Abnormal prolactin level
93953	GCNA	HP:0003251	Male infertility
93953	GCNA	HP:0040171	Decreased serum testosterone concentration
93986	FOXP2	HP:0002465	Poor speech
93986	FOXP2	HP:0002474	Expressive language delay
93986	FOXP2	HP:0007301	Oromotor apraxia
93986	FOXP2	HP:0010863	Receptive language delay
93986	FOXP2	HP:0001260	Dysarthria
93986	FOXP2	HP:0002546	Incomprehensible speech
93986	FOXP2	HP:0001328	Specific learning disability
93986	FOXP2	HP:0000006	Autosomal dominant inheritance
93986	FOXP2	HP:0000176	Submucous cleft hard palate
93986	FOXP2	HP:0002705	High, narrow palate
93986	FOXP2	HP:0002134	Abnormal basal ganglia morphology
93986	FOXP2	HP:0002167	Abnormality of speech or vocalization
93986	FOXP2	HP:0007010	Poor fine motor coordination
93986	FOXP2	HP:0007015	Poor gross motor coordination
93986	FOXP2	HP:0011968	Feeding difficulties
93986	FOXP2	HP:0002340	Caudate atrophy
93986	FOXP2	HP:0002339	Abnormal caudate nucleus morphology
93986	FOXP2	HP:0002307	Drooling
93986	FOXP2	HP:0006977	Deficit in grammar
93986	FOXP2	HP:0000750	Delayed speech and language development
93986	FOXP2	HP:0000729	Autistic behavior
93986	FOXP2	HP:0011463	Childhood onset
93986	FOXP2	HP:0011098	Speech apraxia
93986	FOXP2	HP:0000396	Overfolded helix
93986	FOXP2	HP:0031434	Abnormal prosody
93986	FOXP2	HP:0012434	Delayed social development
93986	FOXP2	HP:0011228	Horizontal eyebrow
94005	PIGS	HP:0001156	Brachydactyly
94005	PIGS	HP:0009882	Short distal phalanx of finger
94005	PIGS	HP:0010851	EEG with burst suppression
94005	PIGS	HP:0001290	Generalized hypotonia
94005	PIGS	HP:0001272	Cerebellar atrophy
94005	PIGS	HP:0001288	Gait disturbance
94005	PIGS	HP:0001250	Seizure
94005	PIGS	HP:0001251	Ataxia
94005	PIGS	HP:0001263	Global developmental delay
94005	PIGS	HP:0007359	Focal-onset seizure
94005	PIGS	HP:0002540	Inability to walk
94005	PIGS	HP:0002553	Highly arched eyebrow
94005	PIGS	HP:0001388	Joint laxity
94005	PIGS	HP:0000023	Inguinal hernia
94005	PIGS	HP:0000028	Cryptorchidism
94005	PIGS	HP:0031165	Multifocal seizures
94005	PIGS	HP:0001344	Absent speech
94005	PIGS	HP:0000007	Autosomal recessive inheritance
94005	PIGS	HP:0002650	Scoliosis
94005	PIGS	HP:0000158	Macroglossia
94005	PIGS	HP:0012110	Hypoplasia of the pons
94005	PIGS	HP:0002019	Constipation
94005	PIGS	HP:0004689	Short fourth metatarsal
94005	PIGS	HP:0002002	Deep philtrum
94005	PIGS	HP:0002069	Bilateral tonic-clonic seizure
94005	PIGS	HP:0002059	Cerebral atrophy
94005	PIGS	HP:0002120	Cerebral cortical atrophy
94005	PIGS	HP:0002133	Status epilepticus
94005	PIGS	HP:0011927	Short digit
94005	PIGS	HP:0002188	Delayed CNS myelination
94005	PIGS	HP:0003593	Infantile onset
94005	PIGS	HP:0002240	Hepatomegaly
94005	PIGS	HP:0100704	Cerebral visual impairment
94005	PIGS	HP:0011968	Feeding difficulties
94005	PIGS	HP:0004209	Clinodactyly of the 5th finger
94005	PIGS	HP:0006855	Cerebellar vermis atrophy
94005	PIGS	HP:0000639	Nystagmus
94005	PIGS	HP:0010044	Short 4th metacarpal
94005	PIGS	HP:0011344	Severe global developmental delay
94005	PIGS	HP:0000687	Widely spaced teeth
94005	PIGS	HP:0001989	Fetal akinesia sequence
94005	PIGS	HP:0000768	Pectus carinatum
94005	PIGS	HP:0000748	Inappropriate laughter
94005	PIGS	HP:0000729	Autistic behavior
94005	PIGS	HP:0003189	Long nose
94005	PIGS	HP:0003155	Elevated circulating alkaline phosphatase concentration
94005	PIGS	HP:0003282	Low alkaline phosphatase
94005	PIGS	HP:0000954	Single transverse palmar crease
94005	PIGS	HP:0000280	Coarse facial features
94005	PIGS	HP:0002828	Multiple joint contractures
94005	PIGS	HP:0002804	Arthrogryposis multiplex congenita
94005	PIGS	HP:0000252	Microcephaly
94005	PIGS	HP:0000212	Gingival overgrowth
94005	PIGS	HP:0001537	Umbilical hernia
94005	PIGS	HP:0000384	Preauricular skin tag
94005	PIGS	HP:0000391	Thickened helices
94005	PIGS	HP:0000365	Hearing impairment
94005	PIGS	HP:0000358	Posteriorly rotated ears
94005	PIGS	HP:0000331	Short chin
94005	PIGS	HP:0001640	Cardiomegaly
94005	PIGS	HP:0030215	Inappropriate crying
94005	PIGS	HP:0000476	Cystic hygroma
94005	PIGS	HP:0000505	Visual impairment
94005	PIGS	HP:0011221	Vertical forehead creases
94137	RP1L1	HP:0001249	Intellectual disability
94137	RP1L1	HP:0008736	Hypoplasia of penis
94137	RP1L1	HP:0001347	Hyperreflexia
94137	RP1L1	HP:0000035	Abnormal testis morphology
94137	RP1L1	HP:0000007	Autosomal recessive inheritance
94137	RP1L1	HP:0000006	Autosomal dominant inheritance
94137	RP1L1	HP:0000135	Hypogonadism
94137	RP1L1	HP:0007675	Progressive night blindness
94137	RP1L1	HP:0007663	Reduced visual acuity
94137	RP1L1	HP:0005978	Type II diabetes mellitus
94137	RP1L1	HP:0003623	Neonatal onset
94137	RP1L1	HP:0000639	Nystagmus
94137	RP1L1	HP:0000648	Optic atrophy
94137	RP1L1	HP:0000618	Blindness
94137	RP1L1	HP:0000613	Photophobia
94137	RP1L1	HP:0000608	Macular degeneration
94137	RP1L1	HP:0000602	Ophthalmoplegia
94137	RP1L1	HP:0030468	Abnormal multifocal electroretinogram
94137	RP1L1	HP:0030466	Abnormal full-field electroretinogram
94137	RP1L1	HP:0000662	Nyctalopia
94137	RP1L1	HP:0030604	Abnormal fundus fluorescein angiography
94137	RP1L1	HP:0011505	Cystoid macular edema
94137	RP1L1	HP:0000842	Hyperinsulinemia
94137	RP1L1	HP:0000987	Atypical scarring of skin
94137	RP1L1	HP:0008046	Abnormal retinal vascular morphology
94137	RP1L1	HP:0007703	Abnormality of retinal pigmentation
94137	RP1L1	HP:0007754	Macular dystrophy
94137	RP1L1	HP:0007737	Bone spicule pigmentation of the retina
94137	RP1L1	HP:0001513	Obesity
94137	RP1L1	HP:0007843	Attenuation of retinal blood vessels
94137	RP1L1	HP:0007924	Slow decrease in visual acuity
94137	RP1L1	HP:0000407	Sensorineural hearing impairment
94137	RP1L1	HP:0000405	Conductive hearing impairment
94137	RP1L1	HP:0000463	Anteverted nares
94137	RP1L1	HP:0000431	Wide nasal bridge
94137	RP1L1	HP:0000518	Cataract
94137	RP1L1	HP:0000512	Abnormal electroretinogram
94137	RP1L1	HP:0000505	Visual impairment
94137	RP1L1	HP:0000501	Glaucoma
94137	RP1L1	HP:0000577	Exotropia
94137	RP1L1	HP:0000563	Keratoconus
94137	RP1L1	HP:0000543	Optic disc pallor
95681	CEP41	HP:0001161	Hand polydactyly
95681	CEP41	HP:0002419	Molar tooth sign on MRI
95681	CEP41	HP:0001290	Generalized hypotonia
95681	CEP41	HP:0001274	Agenesis of corpus callosum
95681	CEP41	HP:0001288	Gait disturbance
95681	CEP41	HP:0001250	Seizure
95681	CEP41	HP:0001252	Hypotonia
95681	CEP41	HP:0001251	Ataxia
95681	CEP41	HP:0001249	Intellectual disability
95681	CEP41	HP:0001263	Global developmental delay
95681	CEP41	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
95681	CEP41	HP:0002553	Highly arched eyebrow
95681	CEP41	HP:0000090	Nephronophthisis
95681	CEP41	HP:0000062	Ambiguous genitalia
95681	CEP41	HP:0000054	Micropenis
95681	CEP41	HP:0008872	Feeding difficulties in infancy
95681	CEP41	HP:0000007	Autosomal recessive inheritance
95681	CEP41	HP:0001337	Tremor
95681	CEP41	HP:0001320	Cerebellar vermis hypoplasia
95681	CEP41	HP:0002650	Scoliosis
95681	CEP41	HP:0000175	Cleft palate
95681	CEP41	HP:0002793	Abnormal pattern of respiration
95681	CEP41	HP:0003312	Abnormal form of the vertebral bodies
95681	CEP41	HP:0002084	Encephalocele
95681	CEP41	HP:0010442	Polydactyly
95681	CEP41	HP:0003468	Abnormal vertebral morphology
95681	CEP41	HP:0002126	Polymicrogyria
95681	CEP41	HP:0002104	Apnea
95681	CEP41	HP:0002269	Abnormality of neuronal migration
95681	CEP41	HP:0002251	Aganglionic megacolon
95681	CEP41	HP:0011968	Feeding difficulties
95681	CEP41	HP:0000639	Nystagmus
95681	CEP41	HP:0000612	Iris coloboma
95681	CEP41	HP:0000657	Oculomotor apraxia
95681	CEP41	HP:0030680	Abnormality of cardiovascular system morphology
95681	CEP41	HP:0004422	Biparietal narrowing
95681	CEP41	HP:0000864	Abnormality of the hypothalamus-pituitary axis
95681	CEP41	HP:0000276	Long face
95681	CEP41	HP:0000238	Hydrocephalus
95681	CEP41	HP:0002876	Episodic tachypnea
95681	CEP41	HP:0000202	Orofacial cleft
95681	CEP41	HP:0001696	Situs inversus totalis
95681	CEP41	HP:0000369	Low-set ears
95681	CEP41	HP:0000368	Low-set, posteriorly rotated ears
95681	CEP41	HP:0001651	Dextrocardia
95681	CEP41	HP:0000486	Strabismus
95681	CEP41	HP:0000480	Retinal coloboma
95681	CEP41	HP:0000488	Retinopathy
95681	CEP41	HP:0000463	Anteverted nares
95681	CEP41	HP:0000426	Prominent nasal bridge
95681	CEP41	HP:0001829	Foot polydactyly
95681	CEP41	HP:0000508	Ptosis
95681	CEP41	HP:0000556	Retinal dystrophy
95681	CEP41	HP:0000572	Visual loss
96459	FNIP1	HP:0010862	Delayed fine motor development
96459	FNIP1	HP:0033542	Bronchial wall thickening
96459	FNIP1	HP:0001263	Global developmental delay
96459	FNIP1	HP:0010976	B lymphocytopenia
96459	FNIP1	HP:0000007	Autosomal recessive inheritance
96459	FNIP1	HP:0002136	Broad-based gait
96459	FNIP1	HP:0002110	Bronchiectasis
96459	FNIP1	HP:0002194	Delayed gross motor development
96459	FNIP1	HP:0003593	Infantile onset
96459	FNIP1	HP:0004315	Decreased circulating IgG level
96459	FNIP1	HP:0004432	Agammaglobulinemia
96459	FNIP1	HP:0100280	Crohn's disease
96459	FNIP1	HP:0005133	Right ventricular dilatation
96459	FNIP1	HP:0002850	Decreased circulating total IgM
96459	FNIP1	HP:0012389	Appendicular hypotonia
96459	FNIP1	HP:0005180	Tricuspid regurgitation
96459	FNIP1	HP:0001639	Hypertrophic cardiomyopathy
96459	FNIP1	HP:0001716	Wolff-Parkinson-White syndrome
96459	FNIP1	HP:0030252	Absent circulating B cells
96459	FNIP1	HP:0030388	Decreased proportion of class-switched memory B cells
96459	FNIP1	HP:0001875	Neutropenia
112476	PRRT2	HP:0002487	Hyperkinetic movements
112476	PRRT2	HP:0007240	Progressive gait ataxia
112476	PRRT2	HP:0007209	Facial paralysis
112476	PRRT2	HP:0001276	Hypertonia
112476	PRRT2	HP:0001272	Cerebellar atrophy
112476	PRRT2	HP:0001269	Hemiparesis
112476	PRRT2	HP:0001289	Confusion
112476	PRRT2	HP:0001256	Intellectual disability, mild
112476	PRRT2	HP:0001250	Seizure
112476	PRRT2	HP:0001251	Ataxia
112476	PRRT2	HP:0001249	Intellectual disability
112476	PRRT2	HP:0001266	Choreoathetosis
112476	PRRT2	HP:0001260	Dysarthria
112476	PRRT2	HP:0001259	Coma
112476	PRRT2	HP:0410263	Brain imaging abnormality
112476	PRRT2	HP:0007359	Focal-onset seizure
112476	PRRT2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
112476	PRRT2	HP:0003829	Typified by incomplete penetrance
112476	PRRT2	HP:0012044	Seesaw nystagmus
112476	PRRT2	HP:0001387	Joint stiffness
112476	PRRT2	HP:0032506	Alien limb phenomenon
112476	PRRT2	HP:0012002	Experiential epileptic aura
112476	PRRT2	HP:0031179	Nuchal rigidity
112476	PRRT2	HP:0001332	Dystonia
112476	PRRT2	HP:0001328	Specific learning disability
112476	PRRT2	HP:0001324	Muscle weakness
112476	PRRT2	HP:0000006	Autosomal dominant inheritance
112476	PRRT2	HP:0001308	Tongue fasciculations
112476	PRRT2	HP:0001304	Torsion dystonia
112476	PRRT2	HP:0008959	Distal upper limb muscle weakness
112476	PRRT2	HP:0025401	Staring gaze
112476	PRRT2	HP:0003324	Generalized muscle weakness
112476	PRRT2	HP:0002094	Dyspnea
112476	PRRT2	HP:0002069	Bilateral tonic-clonic seizure
112476	PRRT2	HP:0002063	Rigidity
112476	PRRT2	HP:0003392	First dorsal interossei muscle weakness
112476	PRRT2	HP:0002061	Lower limb spasticity
112476	PRRT2	HP:0002076	Migraine
112476	PRRT2	HP:0002077	Migraine with aura
112476	PRRT2	HP:0002072	Chorea
112476	PRRT2	HP:0100576	Amaurosis fugax
112476	PRRT2	HP:0002121	Generalized non-motor (absence) seizure
112476	PRRT2	HP:0002133	Status epilepticus
112476	PRRT2	HP:0002104	Apnea
112476	PRRT2	HP:0002181	Cerebral edema
112476	PRRT2	HP:0002197	Generalized-onset seizure
112476	PRRT2	HP:0002167	Abnormality of speech or vocalization
112476	PRRT2	HP:0002172	Postural instability
112476	PRRT2	HP:0010544	Vertical nystagmus
112476	PRRT2	HP:0003401	Paresthesia
112476	PRRT2	HP:0002268	Paroxysmal dystonia
112476	PRRT2	HP:0002266	Focal clonic seizure
112476	PRRT2	HP:0003593	Infantile onset
112476	PRRT2	HP:0200149	CSF lymphocytic pleiocytosis
112476	PRRT2	HP:0032044	Decreased vigilance
112476	PRRT2	HP:0007098	Paroxysmal choreoathetosis
112476	PRRT2	HP:0002384	Focal impaired awareness seizure
112476	PRRT2	HP:0002381	Aphasia
112476	PRRT2	HP:0002361	Psychomotor deterioration
112476	PRRT2	HP:0002372	Normal interictal EEG
112476	PRRT2	HP:0002356	Writer's cramp
112476	PRRT2	HP:0002353	EEG abnormality
112476	PRRT2	HP:0002321	Vertigo
112476	PRRT2	HP:0010835	Dissociated sensory loss
112476	PRRT2	HP:0010833	Spontaneous pain sensation
112476	PRRT2	HP:0100660	Dyskinesia
112476	PRRT2	HP:0010829	Impaired temperature sensation
112476	PRRT2	HP:0010818	Generalized tonic seizure
112476	PRRT2	HP:0007166	Paroxysmal dyskinesia
112476	PRRT2	HP:0002301	Hemiplegia
112476	PRRT2	HP:0002310	Orofacial dyskinesia
112476	PRRT2	HP:0002305	Athetosis
112476	PRRT2	HP:0003621	Juvenile onset
112476	PRRT2	HP:0006801	Hyperactive deep tendon reflexes
112476	PRRT2	HP:0000651	Diplopia
112476	PRRT2	HP:0004305	Involuntary movements
112476	PRRT2	HP:0000737	Irritability
112476	PRRT2	HP:0000718	Aggressive behavior
112476	PRRT2	HP:0011468	Facial tics
112476	PRRT2	HP:0012759	Neurodevelopmental abnormality
112476	PRRT2	HP:0030786	Photopsia
112476	PRRT2	HP:0045084	Limb myoclonus
112476	PRRT2	HP:0000961	Cyanosis
112476	PRRT2	HP:0000271	Abnormality of the face
112476	PRRT2	HP:0012229	CSF pleocytosis
112476	PRRT2	HP:0000211	Trismus
112476	PRRT2	HP:0002922	Increased CSF protein concentration
112476	PRRT2	HP:0000365	Hearing impairment
112476	PRRT2	HP:0000360	Tinnitus
112476	PRRT2	HP:0011196	EEG with focal sharp waves
112476	PRRT2	HP:0011199	EEG with generalized sharp slow waves
112476	PRRT2	HP:0011182	Interictal epileptiform activity
112476	PRRT2	HP:0011169	Generalized clonic seizure
112476	PRRT2	HP:0011172	Complex febrile seizure
112476	PRRT2	HP:0011171	Simple febrile seizure
112476	PRRT2	HP:0011157	Focal sensory seizure
112476	PRRT2	HP:0011167	Focal tonic seizure
112476	PRRT2	HP:0011153	Focal motor seizure
112476	PRRT2	HP:0007979	Gaze-evoked horizontal nystagmus
112476	PRRT2	HP:0012469	Infantile spasms
112476	PRRT2	HP:0000473	Torticollis
112476	PRRT2	HP:0025708	Early young adult onset
112476	PRRT2	HP:0012508	Metamorphopsia
112476	PRRT2	HP:0000575	Scotoma
112744	IL17F	HP:0100825	Cheilitis
112744	IL17F	HP:0001250	Seizure
112744	IL17F	HP:0001231	Abnormal fingernail morphology
112744	IL17F	HP:0008872	Feeding difficulties in infancy
112744	IL17F	HP:0000010	Recurrent urinary tract infections
112744	IL17F	HP:0000006	Autosomal dominant inheritance
112744	IL17F	HP:0000159	Abnormal lip morphology
112744	IL17F	HP:0000142	Abnormal vagina morphology
112744	IL17F	HP:0000153	Abnormality of the mouth
112744	IL17F	HP:0012115	Hepatitis
112744	IL17F	HP:0002719	Recurrent infections
112744	IL17F	HP:0002715	Abnormality of the immune system
112744	IL17F	HP:0002728	Chronic mucocutaneous candidiasis
112744	IL17F	HP:0002105	Hemoptysis
112744	IL17F	HP:0002205	Recurrent respiratory infections
112744	IL17F	HP:0008388	Abnormal toenail morphology
112744	IL17F	HP:0200034	Papule
112744	IL17F	HP:0200042	Skin ulcer
112744	IL17F	HP:0010783	Erythema
112744	IL17F	HP:0000682	Abnormal dental enamel morphology
112744	IL17F	HP:0004306	Abnormal endocardium morphology
112744	IL17F	HP:0004370	Abnormality of temperature regulation
112744	IL17F	HP:0012735	Cough
112744	IL17F	HP:0000790	Hematuria
112744	IL17F	HP:0000989	Pruritus
112744	IL17F	HP:0000988	Skin rash
112744	IL17F	HP:0000951	Abnormality of the skin
112744	IL17F	HP:0000962	Hyperkeratosis
112744	IL17F	HP:0001597	Abnormality of the nail
112744	IL17F	HP:0030016	Dyspareunia
112744	IL17F	HP:0000478	Abnormality of the eye
112744	IL17F	HP:0001821	Broad nail
112744	IL17F	HP:0000504	Abnormality of vision
112752	IFT43	HP:0001156	Brachydactyly
112752	IFT43	HP:0003774	Stage 5 chronic kidney disease
112752	IFT43	HP:0009882	Short distal phalanx of finger
112752	IFT43	HP:0001231	Abnormal fingernail morphology
112752	IFT43	HP:0002566	Intestinal malrotation
112752	IFT43	HP:0006101	Finger syndactyly
112752	IFT43	HP:0000090	Nephronophthisis
112752	IFT43	HP:0001394	Cirrhosis
112752	IFT43	HP:0001388	Joint laxity
112752	IFT43	HP:0001363	Craniosynostosis
112752	IFT43	HP:0000007	Autosomal recessive inheritance
112752	IFT43	HP:0008905	Rhizomelia
112752	IFT43	HP:0000164	Abnormality of the dentition
112752	IFT43	HP:0007663	Reduced visual acuity
112752	IFT43	HP:0000113	Polycystic kidney dysplasia
112752	IFT43	HP:0004691	2-3 toe syndactyly
112752	IFT43	HP:0002007	Frontal bossing
112752	IFT43	HP:0002119	Ventriculomegaly
112752	IFT43	HP:0002190	Choroid plexus cyst
112752	IFT43	HP:0004719	Hyperechogenic kidneys
112752	IFT43	HP:0002213	Fine hair
112752	IFT43	HP:0010714	2-4 toe syndactyly
112752	IFT43	HP:0008388	Abnormal toenail morphology
112752	IFT43	HP:0008499	High hypermetropia
112752	IFT43	HP:0008422	Vertebral wedging
112752	IFT43	HP:0004969	Peripheral pulmonary artery stenosis
112752	IFT43	HP:0004209	Clinodactyly of the 5th finger
112752	IFT43	HP:0000639	Nystagmus
112752	IFT43	HP:0000601	Hypotelorism
112752	IFT43	HP:0000682	Abnormal dental enamel morphology
112752	IFT43	HP:0000679	Taurodontia
112752	IFT43	HP:0000691	Microdontia
112752	IFT43	HP:0000685	Hypoplasia of teeth
112752	IFT43	HP:0000687	Widely spaced teeth
112752	IFT43	HP:0000662	Nyctalopia
112752	IFT43	HP:0000668	Hypodontia
112752	IFT43	HP:0004322	Short stature
112752	IFT43	HP:0003031	Ulnar bowing
112752	IFT43	HP:0005692	Joint hyperflexibility
112752	IFT43	HP:0000767	Pectus excavatum
112752	IFT43	HP:0011463	Childhood onset
112752	IFT43	HP:0000774	Narrow chest
112752	IFT43	HP:0000773	Short ribs
112752	IFT43	HP:0004442	Sagittal craniosynostosis
112752	IFT43	HP:0030799	Scaphocephaly
112752	IFT43	HP:0000926	Platyspondyly
112752	IFT43	HP:0000921	Missing ribs
112752	IFT43	HP:0003175	Hypoplastic ischia
112752	IFT43	HP:0100259	Postaxial polydactyly
112752	IFT43	HP:0100258	Preaxial polydactyly
112752	IFT43	HP:0000973	Cutis laxa
112752	IFT43	HP:0000958	Dry skin
112752	IFT43	HP:0000954	Single transverse palmar crease
112752	IFT43	HP:0000968	Ectodermal dysplasia
112752	IFT43	HP:0000939	Osteoporosis
112752	IFT43	HP:0000944	Abnormal metaphysis morphology
112752	IFT43	HP:0000940	Abnormal diaphysis morphology
112752	IFT43	HP:0008070	Sparse hair
112752	IFT43	HP:0007722	Retinal pigment epithelial atrophy
112752	IFT43	HP:0000286	Epicanthus
112752	IFT43	HP:0000256	Macrocephaly
112752	IFT43	HP:0000268	Dolichocephaly
112752	IFT43	HP:0000269	Prominent occiput
112752	IFT43	HP:0007737	Bone spicule pigmentation of the retina
112752	IFT43	HP:0000238	Hydrocephalus
112752	IFT43	HP:0000219	Thin upper lip vermilion
112752	IFT43	HP:0000232	Everted lower lip vermilion
112752	IFT43	HP:0007843	Attenuation of retinal blood vessels
112752	IFT43	HP:0005257	Thoracic hypoplasia
112752	IFT43	HP:0000347	Micrognathia
112752	IFT43	HP:0002983	Micromelia
112752	IFT43	HP:0000316	Hypertelorism
112752	IFT43	HP:0002986	Radial bowing
112752	IFT43	HP:0000476	Cystic hygroma
112752	IFT43	HP:0000463	Anteverted nares
112752	IFT43	HP:0001799	Short nail
112752	IFT43	HP:0005474	Decreased calvarial ossification
112752	IFT43	HP:0001852	Sandal gap
112752	IFT43	HP:0001821	Broad nail
112752	IFT43	HP:0000506	Telecanthus
112752	IFT43	HP:0000543	Optic disc pallor
112752	IFT43	HP:0000545	Myopia
112755	STX1B	HP:0010850	EEG with spike-wave complexes
112755	STX1B	HP:0001252	Hypotonia
112755	STX1B	HP:0001251	Ataxia
112755	STX1B	HP:0001263	Global developmental delay
112755	STX1B	HP:0008770	Obsessive-compulsive trait
112755	STX1B	HP:0007359	Focal-onset seizure
112755	STX1B	HP:0002539	Cortical dysplasia
112755	STX1B	HP:0001337	Tremor
112755	STX1B	HP:0000006	Autosomal dominant inheritance
112755	STX1B	HP:0004684	Talipes valgus
112755	STX1B	HP:0100543	Cognitive impairment
112755	STX1B	HP:0002069	Bilateral tonic-clonic seizure
112755	STX1B	HP:0002067	Bradykinesia
112755	STX1B	HP:0002123	Generalized myoclonic seizure
112755	STX1B	HP:0002121	Generalized non-motor (absence) seizure
112755	STX1B	HP:0002133	Status epilepticus
112755	STX1B	HP:0002197	Generalized-onset seizure
112755	STX1B	HP:0003593	Infantile onset
112755	STX1B	HP:0007010	Poor fine motor coordination
112755	STX1B	HP:0007058	Generalized cerebral atrophy/hypoplasia
112755	STX1B	HP:0002384	Focal impaired awareness seizure
112755	STX1B	HP:0002376	Developmental regression
112755	STX1B	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
112755	STX1B	HP:0010819	Atonic seizure
112755	STX1B	HP:0100694	Tibial torsion
112755	STX1B	HP:0002311	Incoordination
112755	STX1B	HP:0003621	Juvenile onset
112755	STX1B	HP:0003066	Limited knee extension
112755	STX1B	HP:0000739	Anxiety
112755	STX1B	HP:0000750	Delayed speech and language development
112755	STX1B	HP:0000729	Autistic behavior
112755	STX1B	HP:0011463	Childhood onset
112755	STX1B	HP:0032792	Tonic seizure
112755	STX1B	HP:0011151	Atypical absence status epilepticus
112755	STX1B	HP:0001763	Pes planus
112802	KRT71	HP:0000006	Autosomal dominant inheritance
112802	KRT71	HP:0003577	Congenital onset
112802	KRT71	HP:0002224	Woolly hair
112802	KRT71	HP:0002217	Slow-growing hair
112802	KRT71	HP:0002231	Sparse body hair
112802	KRT71	HP:0002213	Fine hair
112802	KRT71	HP:0010719	Abnormality of hair texture
112802	KRT71	HP:0002299	Brittle hair
112802	KRT71	HP:0005599	Hypopigmentation of hair
112802	KRT71	HP:0000615	Abnormal pupil morphology
112802	KRT71	HP:0000653	Sparse eyelashes
112802	KRT71	HP:0000971	Abnormal sweat gland morphology
112802	KRT71	HP:0008070	Sparse hair
112802	KRT71	HP:0006482	Abnormality of dental morphology
112802	KRT71	HP:0005338	Sparse lateral eyebrow
112802	KRT71	HP:0000486	Strabismus
112802	KRT71	HP:0000479	Abnormal retinal morphology
112802	KRT71	HP:0011121	Abnormality of skin morphology
112802	KRT71	HP:0000518	Cataract
112812	FDX2	HP:0003737	Mitochondrial myopathy
112812	FDX2	HP:0003701	Proximal muscle weakness
112812	FDX2	HP:0001290	Generalized hypotonia
112812	FDX2	HP:0001270	Motor delay
112812	FDX2	HP:0001252	Hypotonia
112812	FDX2	HP:0001265	Hyporeflexia
112812	FDX2	HP:0001257	Spasticity
112812	FDX2	HP:0007340	Lower limb muscle weakness
112812	FDX2	HP:0002515	Waddling gait
112812	FDX2	HP:0001347	Hyperreflexia
112812	FDX2	HP:0001324	Muscle weakness
112812	FDX2	HP:0000007	Autosomal recessive inheritance
112812	FDX2	HP:0000158	Macroglossia
112812	FDX2	HP:0001427	Mitochondrial inheritance
112812	FDX2	HP:0003325	Limb-girdle muscle weakness
112812	FDX2	HP:0003326	Myalgia
112812	FDX2	HP:0002094	Dyspnea
112812	FDX2	HP:0003394	Muscle spasm
112812	FDX2	HP:0003391	Gowers sign
112812	FDX2	HP:0002151	Increased serum lactate
112812	FDX2	HP:0002240	Hepatomegaly
112812	FDX2	HP:0003535	3-Methylglutaconic aciduria
112812	FDX2	HP:0008314	Decreased activity of mitochondrial complex II
112812	FDX2	HP:0002355	Difficulty walking
112812	FDX2	HP:0007141	Sensorimotor neuropathy
112812	FDX2	HP:0003621	Juvenile onset
112812	FDX2	HP:0000639	Nystagmus
112812	FDX2	HP:0000648	Optic atrophy
112812	FDX2	HP:0001935	Microcytic anemia
112812	FDX2	HP:0003128	Lactic acidosis
112812	FDX2	HP:0000821	Hypothyroidism
112812	FDX2	HP:0003236	Elevated circulating creatine kinase concentration
112812	FDX2	HP:0003201	Rhabdomyolysis
112812	FDX2	HP:0002919	Ketonuria
112812	FDX2	HP:0002913	Myoglobinuria
112812	FDX2	HP:0030234	Highly elevated creatine kinase
112812	FDX2	HP:0001761	Pes cavus
112812	FDX2	HP:0000508	Ptosis
112812	FDX2	HP:0000505	Visual impairment
112812	FDX2	HP:0001875	Neutropenia
112817	HOGA1	HP:0008672	Calcium oxalate nephrolithiasis
112817	HOGA1	HP:0000007	Autosomal recessive inheritance
112817	HOGA1	HP:0000121	Nephrocalcinosis
112817	HOGA1	HP:0100515	Pollakisuria
112817	HOGA1	HP:0100518	Dysuria
112817	HOGA1	HP:0000790	Hematuria
112817	HOGA1	HP:0003110	Abnormality of urine homeostasis
112817	HOGA1	HP:0003159	Hyperoxaluria
112817	HOGA1	HP:0012211	Abnormal renal physiology
112817	HOGA1	HP:0012531	Pain
112858	TP53RK	HP:0001182	Tapered finger
112858	TP53RK	HP:0001181	Adducted thumb
112858	TP53RK	HP:0003774	Stage 5 chronic kidney disease
112858	TP53RK	HP:0002410	Aqueductal stenosis
112858	TP53RK	HP:0001276	Hypertonia
112858	TP53RK	HP:0001250	Seizure
112858	TP53RK	HP:0001252	Hypotonia
112858	TP53RK	HP:0001249	Intellectual disability
112858	TP53RK	HP:0001263	Global developmental delay
112858	TP53RK	HP:0001257	Spasticity
112858	TP53RK	HP:0008677	Congenital nephrotic syndrome
112858	TP53RK	HP:0010978	Abnormality of immune system physiology
112858	TP53RK	HP:0000097	Focal segmental glomerulosclerosis
112858	TP53RK	HP:0000093	Proteinuria
112858	TP53RK	HP:0001357	Plagiocephaly
112858	TP53RK	HP:0000007	Autosomal recessive inheritance
112858	TP53RK	HP:0001302	Pachygyria
112858	TP53RK	HP:0001321	Cerebellar hypoplasia
112858	TP53RK	HP:0000164	Abnormality of the dentition
112858	TP53RK	HP:0000100	Nephrotic syndrome
112858	TP53RK	HP:0000112	Nephropathy
112858	TP53RK	HP:0002036	Hiatus hernia
112858	TP53RK	HP:0100543	Cognitive impairment
112858	TP53RK	HP:0002059	Cerebral atrophy
112858	TP53RK	HP:0002057	Prominent glabella
112858	TP53RK	HP:0002126	Polymicrogyria
112858	TP53RK	HP:0100490	Camptodactyly of finger
112858	TP53RK	HP:0003593	Infantile onset
112858	TP53RK	HP:0002269	Abnormality of neuronal migration
112858	TP53RK	HP:0003577	Congenital onset
112858	TP53RK	HP:0100720	Hypoplasia of the ear cartilage
112858	TP53RK	HP:0100729	Large face
112858	TP53RK	HP:0011968	Feeding difficulties
112858	TP53RK	HP:0001034	Hypermelanotic macule
112858	TP53RK	HP:0002353	EEG abnormality
112858	TP53RK	HP:0001967	Diffuse mesangial sclerosis
112858	TP53RK	HP:0000601	Hypotelorism
112858	TP53RK	HP:0004322	Short stature
112858	TP53RK	HP:0004374	Hemiplegia/hemiparesis
112858	TP53RK	HP:0000750	Delayed speech and language development
112858	TP53RK	HP:0011451	Primary microcephaly
112858	TP53RK	HP:0005108	Abnormal intervertebral disk morphology
112858	TP53RK	HP:0000252	Microcephaly
112858	TP53RK	HP:0001511	Intrauterine growth retardation
112858	TP53RK	HP:0000347	Micrognathia
112858	TP53RK	HP:0000316	Hypertelorism
112858	TP53RK	HP:0001622	Premature birth
112858	TP53RK	HP:0000400	Macrotia
112858	TP53RK	HP:0000411	Protruding ear
112858	TP53RK	HP:0000505	Visual impairment
112939	NACC1	HP:0001118	Juvenile cataract
112939	NACC1	HP:0010864	Intellectual disability, severe
112939	NACC1	HP:0002421	Poor head control
112939	NACC1	HP:0001250	Seizure
112939	NACC1	HP:0001252	Hypotonia
112939	NACC1	HP:0001249	Intellectual disability
112939	NACC1	HP:0001263	Global developmental delay
112939	NACC1	HP:0001257	Spasticity
112939	NACC1	HP:0007359	Focal-onset seizure
112939	NACC1	HP:0002521	Hypsarrhythmia
112939	NACC1	HP:0001371	Flexion contracture
112939	NACC1	HP:0008872	Feeding difficulties in infancy
112939	NACC1	HP:0001344	Absent speech
112939	NACC1	HP:0000006	Autosomal dominant inheritance
112939	NACC1	HP:0002650	Scoliosis
112939	NACC1	HP:0012171	Stereotypical hand wringing
112939	NACC1	HP:0008947	Infantile muscular hypotonia
112939	NACC1	HP:0002020	Gastroesophageal reflux
112939	NACC1	HP:0005949	Apneic episodes in infancy
112939	NACC1	HP:0002059	Cerebral atrophy
112939	NACC1	HP:0040288	Nasogastric tube feeding
112939	NACC1	HP:0002188	Delayed CNS myelination
112939	NACC1	HP:0002187	Intellectual disability, profound
112939	NACC1	HP:0003593	Infantile onset
112939	NACC1	HP:0011968	Feeding difficulties
112939	NACC1	HP:0002360	Sleep disturbance
112939	NACC1	HP:0002376	Developmental regression
112939	NACC1	HP:0002355	Difficulty walking
112939	NACC1	HP:0031951	Nocturnal seizures
112939	NACC1	HP:0000737	Irritability
112939	NACC1	HP:0034392	Joint contracture
112939	NACC1	HP:0000252	Microcephaly
112939	NACC1	HP:0002870	Obstructive sleep apnea
112939	NACC1	HP:0001508	Failure to thrive
112939	NACC1	HP:0032792	Tonic seizure
112939	NACC1	HP:0012469	Infantile spasms
112939	NACC1	HP:0012448	Delayed myelination
112939	NACC1	HP:0000455	Broad nasal tip
112939	NACC1	HP:0012430	Cerebral white matter hypoplasia
112939	NACC1	HP:0005484	Secondary microcephaly
112939	NACC1	HP:0000518	Cataract
113179	ADAT3	HP:0001274	Agenesis of corpus callosum
113179	ADAT3	HP:0001288	Gait disturbance
113179	ADAT3	HP:0001250	Seizure
113179	ADAT3	HP:0001252	Hypotonia
113179	ADAT3	HP:0001249	Intellectual disability
113179	ADAT3	HP:0001263	Global developmental delay
113179	ADAT3	HP:0001257	Spasticity
113179	ADAT3	HP:0002553	Highly arched eyebrow
113179	ADAT3	HP:0001376	Limitation of joint mobility
113179	ADAT3	HP:0000054	Micropenis
113179	ADAT3	HP:0000047	Hypospadias
113179	ADAT3	HP:0001357	Plagiocephaly
113179	ADAT3	HP:0000028	Cryptorchidism
113179	ADAT3	HP:0000007	Autosomal recessive inheritance
113179	ADAT3	HP:0031123	Recurrent gastroenteritis
113179	ADAT3	HP:0000164	Abnormality of the dentition
113179	ADAT3	HP:0000154	Wide mouth
113179	ADAT3	HP:0008947	Infantile muscular hypotonia
113179	ADAT3	HP:0002020	Gastroesophageal reflux
113179	ADAT3	HP:0002079	Hypoplasia of the corpus callosum
113179	ADAT3	HP:0009473	Joint contracture of the hand
113179	ADAT3	HP:0002119	Ventriculomegaly
113179	ADAT3	HP:0002188	Delayed CNS myelination
113179	ADAT3	HP:0002172	Postural instability
113179	ADAT3	HP:0003593	Infantile onset
113179	ADAT3	HP:0100702	Arachnoid cyst
113179	ADAT3	HP:0100710	Impulsivity
113179	ADAT3	HP:0011968	Feeding difficulties
113179	ADAT3	HP:0009830	Peripheral neuropathy
113179	ADAT3	HP:0007162	Diffuse demyelination of the cerebral white matter
113179	ADAT3	HP:0000664	Synophrys
113179	ADAT3	HP:0004322	Short stature
113179	ADAT3	HP:0000752	Hyperactivity
113179	ADAT3	HP:0000750	Delayed speech and language development
113179	ADAT3	HP:0000718	Aggressive behavior
113179	ADAT3	HP:0000776	Congenital diaphragmatic hernia
113179	ADAT3	HP:0003196	Short nose
113179	ADAT3	HP:0000821	Hypothyroidism
113179	ADAT3	HP:0000824	Decreased response to growth hormone stimulation test
113179	ADAT3	HP:0005879	Congenital finger flexion contractures
113179	ADAT3	HP:0000966	Hypohidrosis
113179	ADAT3	HP:0000286	Epicanthus
113179	ADAT3	HP:0000276	Long face
113179	ADAT3	HP:0000252	Microcephaly
113179	ADAT3	HP:0000218	High palate
113179	ADAT3	HP:0001561	Polyhydramnios
113179	ADAT3	HP:0001508	Failure to thrive
113179	ADAT3	HP:0001511	Intrauterine growth retardation
113179	ADAT3	HP:0000365	Hearing impairment
113179	ADAT3	HP:0000369	Low-set ears
113179	ADAT3	HP:0000340	Sloping forehead
113179	ADAT3	HP:0000348	High forehead
113179	ADAT3	HP:0000347	Micrognathia
113179	ADAT3	HP:0000316	Hypertelorism
113179	ADAT3	HP:0001643	Patent ductus arteriosus
113179	ADAT3	HP:0000324	Facial asymmetry
113179	ADAT3	HP:0001631	Atrial septal defect
113179	ADAT3	HP:0000403	Recurrent otitis media
113179	ADAT3	HP:0000400	Macrotia
113179	ADAT3	HP:0005280	Depressed nasal bridge
113179	ADAT3	HP:0000486	Strabismus
113179	ADAT3	HP:0012471	Thick vermilion border
113179	ADAT3	HP:0012448	Delayed myelination
113179	ADAT3	HP:0012444	Brain atrophy
113179	ADAT3	HP:0012450	Chronic constipation
113179	ADAT3	HP:0000470	Short neck
113179	ADAT3	HP:0012443	Abnormality of brain morphology
113179	ADAT3	HP:0001771	Achilles tendon contracture
113179	ADAT3	HP:0000448	Prominent nose
113179	ADAT3	HP:0012408	Medullary nephrocalcinosis
113179	ADAT3	HP:0000418	Narrow nasal ridge
113179	ADAT3	HP:0001762	Talipes equinovarus
113179	ADAT3	HP:0001838	Rocker bottom foot
113179	ADAT3	HP:0000506	Telecanthus
113179	ADAT3	HP:0000582	Upslanted palpebral fissure
113179	ADAT3	HP:0030353	Decreased serum insulin-like growth factor 1
113179	ADAT3	HP:0011220	Prominent forehead
113179	ADAT3	HP:0000565	Esotropia
113189	CHST14	HP:0001182	Tapered finger
113189	CHST14	HP:0001181	Adducted thumb
113189	CHST14	HP:0001166	Arachnodactyly
113189	CHST14	HP:0008572	External ear malformation
113189	CHST14	HP:0001290	Generalized hypotonia
113189	CHST14	HP:0001270	Motor delay
113189	CHST14	HP:0001252	Hypotonia
113189	CHST14	HP:0001249	Intellectual disability
113189	CHST14	HP:0001263	Global developmental delay
113189	CHST14	HP:0001238	Slender finger
113189	CHST14	HP:0002566	Intestinal malrotation
113189	CHST14	HP:0000085	Horseshoe kidney
113189	CHST14	HP:0001373	Joint dislocation
113189	CHST14	HP:0001388	Joint laxity
113189	CHST14	HP:0000023	Inguinal hernia
113189	CHST14	HP:0001363	Craniosynostosis
113189	CHST14	HP:0000028	Cryptorchidism
113189	CHST14	HP:0006184	Decreased palmar creases
113189	CHST14	HP:0001324	Muscle weakness
113189	CHST14	HP:0000007	Autosomal recessive inheritance
113189	CHST14	HP:0000009	Functional abnormality of the bladder
113189	CHST14	HP:0002650	Scoliosis
113189	CHST14	HP:0000160	Narrow mouth
113189	CHST14	HP:0000175	Cleft palate
113189	CHST14	HP:0000153	Abnormality of the mouth
113189	CHST14	HP:0410030	Cleft lip
113189	CHST14	HP:0000126	Hydronephrosis
113189	CHST14	HP:0002761	Generalized joint laxity
113189	CHST14	HP:0000100	Nephrotic syndrome
113189	CHST14	HP:0002751	Kyphoscoliosis
113189	CHST14	HP:0002019	Constipation
113189	CHST14	HP:0002036	Hiatus hernia
113189	CHST14	HP:0002000	Short columella
113189	CHST14	HP:0003319	Abnormality of the cervical spine
113189	CHST14	HP:0002119	Ventriculomegaly
113189	CHST14	HP:0004794	Malrotation of small bowel
113189	CHST14	HP:0002107	Pneumothorax
113189	CHST14	HP:0003414	Atlantoaxial dislocation
113189	CHST14	HP:0002194	Delayed gross motor development
113189	CHST14	HP:0002246	Abnormal duodenum morphology
113189	CHST14	HP:0003577	Congenital onset
113189	CHST14	HP:0001030	Fragile skin
113189	CHST14	HP:0001075	Atrophic scars
113189	CHST14	HP:0100699	Scarring
113189	CHST14	HP:0003623	Neonatal onset
113189	CHST14	HP:0031869	Recurrent joint dislocation
113189	CHST14	HP:0001933	Subcutaneous hemorrhage
113189	CHST14	HP:0001999	Abnormal facial shape
113189	CHST14	HP:0005684	Distal arthrogryposis
113189	CHST14	HP:0100016	Abnormality of mesentery morphology
113189	CHST14	HP:0000767	Pectus excavatum
113189	CHST14	HP:0000766	Abnormal sternum morphology
113189	CHST14	HP:0000787	Nephrolithiasis
113189	CHST14	HP:0004425	Flat forehead
113189	CHST14	HP:0003198	Myopathy
113189	CHST14	HP:0003199	Decreased muscle mass
113189	CHST14	HP:0003196	Short nose
113189	CHST14	HP:0000978	Bruising susceptibility
113189	CHST14	HP:0000974	Hyperextensible skin
113189	CHST14	HP:0000270	Delayed cranial suture closure
113189	CHST14	HP:0002804	Arthrogryposis multiplex congenita
113189	CHST14	HP:0000239	Large fontanelles
113189	CHST14	HP:0001582	Redundant skin
113189	CHST14	HP:0001581	Recurrent skin infections
113189	CHST14	HP:0000248	Brachycephaly
113189	CHST14	HP:0000219	Thin upper lip vermilion
113189	CHST14	HP:0000218	High palate
113189	CHST14	HP:0001540	Diastasis recti
113189	CHST14	HP:0001537	Umbilical hernia
113189	CHST14	HP:0031364	Ecchymosis
113189	CHST14	HP:0001519	Disproportionate tall stature
113189	CHST14	HP:0002947	Cervical kyphosis
113189	CHST14	HP:0005180	Tricuspid regurgitation
113189	CHST14	HP:0000365	Hearing impairment
113189	CHST14	HP:0000358	Posteriorly rotated ears
113189	CHST14	HP:0000369	Low-set ears
113189	CHST14	HP:0000368	Low-set, posteriorly rotated ears
113189	CHST14	HP:0000343	Long philtrum
113189	CHST14	HP:0000337	Broad forehead
113189	CHST14	HP:0000316	Hypertelorism
113189	CHST14	HP:0001659	Aortic regurgitation
113189	CHST14	HP:0001654	Abnormal heart valve morphology
113189	CHST14	HP:0001653	Mitral regurgitation
113189	CHST14	HP:0000324	Facial asymmetry
113189	CHST14	HP:0001627	Abnormal heart morphology
113189	CHST14	HP:0000308	Microretrognathia
113189	CHST14	HP:0001631	Atrial septal defect
113189	CHST14	HP:0001634	Mitral valve prolapse
113189	CHST14	HP:0007906	Ocular hypertension
113189	CHST14	HP:0000400	Macrotia
113189	CHST14	HP:0001704	Tricuspid valve prolapse
113189	CHST14	HP:0005272	Prominent nasolabial fold
113189	CHST14	HP:0000483	Astigmatism
113189	CHST14	HP:0000486	Strabismus
113189	CHST14	HP:0000482	Microcornea
113189	CHST14	HP:0000494	Downslanted palpebral fissures
113189	CHST14	HP:0000411	Protruding ear
113189	CHST14	HP:0001762	Talipes equinovarus
113189	CHST14	HP:0000506	Telecanthus
113189	CHST14	HP:0000501	Glaucoma
113189	CHST14	HP:0000593	Abnormal anterior chamber morphology
113189	CHST14	HP:0000592	Blue sclerae
113189	CHST14	HP:0001892	Abnormal bleeding
113189	CHST14	HP:0012534	Dysesthesia
113189	CHST14	HP:0000541	Retinal detachment
113189	CHST14	HP:0000545	Myopia
113220	KIF12	HP:0001396	Cholestasis
113220	KIF12	HP:0001395	Hepatic fibrosis
113220	KIF12	HP:0001394	Cirrhosis
113220	KIF12	HP:0000007	Autosomal recessive inheritance
113220	KIF12	HP:0006254	Elevated circulating alpha-fetoprotein concentration
113220	KIF12	HP:0001409	Portal hypertension
113220	KIF12	HP:0001408	Bile duct proliferation
113220	KIF12	HP:0030991	Sclerosing cholangitis
113220	KIF12	HP:0030948	Elevated gamma-glutamyltransferase level
113220	KIF12	HP:0002040	Esophageal varix
113220	KIF12	HP:0003593	Infantile onset
113220	KIF12	HP:0002240	Hepatomegaly
113220	KIF12	HP:0003623	Neonatal onset
113220	KIF12	HP:0003621	Juvenile onset
113220	KIF12	HP:0031956	Elevated circulating aspartate aminotransferase concentration
113220	KIF12	HP:0031964	Elevated circulating alanine aminotransferase concentration
113220	KIF12	HP:0011463	Childhood onset
113220	KIF12	HP:0003124	Hypercholesterolemia
113220	KIF12	HP:0003155	Elevated circulating alkaline phosphatase concentration
113220	KIF12	HP:0012852	Hepatic bridging fibrosis
113220	KIF12	HP:0000989	Pruritus
113220	KIF12	HP:0000952	Jaundice
113220	KIF12	HP:0012202	Increased serum bile acid concentration
113220	KIF12	HP:0002908	Conjugated hyperbilirubinemia
113235	SLC46A1	HP:0001290	Generalized hypotonia
113235	SLC46A1	HP:0100825	Cheilitis
113235	SLC46A1	HP:0001250	Seizure
113235	SLC46A1	HP:0001252	Hypotonia
113235	SLC46A1	HP:0001251	Ataxia
113235	SLC46A1	HP:0001249	Intellectual disability
113235	SLC46A1	HP:0001263	Global developmental delay
113235	SLC46A1	HP:0002514	Cerebral calcification
113235	SLC46A1	HP:0001347	Hyperreflexia
113235	SLC46A1	HP:0008872	Feeding difficulties in infancy
113235	SLC46A1	HP:0000010	Recurrent urinary tract infections
113235	SLC46A1	HP:0000007	Autosomal recessive inheritance
113235	SLC46A1	HP:0000155	Oral ulcer
113235	SLC46A1	HP:0002719	Recurrent infections
113235	SLC46A1	HP:0002715	Abnormality of the immune system
113235	SLC46A1	HP:0002721	Immunodeficiency
113235	SLC46A1	HP:0002024	Malabsorption
113235	SLC46A1	HP:0002020	Gastroesophageal reflux
113235	SLC46A1	HP:0002017	Nausea and vomiting
113235	SLC46A1	HP:0002014	Diarrhea
113235	SLC46A1	HP:0100507	Reduced blood folate concentration
113235	SLC46A1	HP:0002039	Anorexia
113235	SLC46A1	HP:0002135	Basal ganglia calcification
113235	SLC46A1	HP:0003593	Infantile onset
113235	SLC46A1	HP:0002205	Recurrent respiratory infections
113235	SLC46A1	HP:0004851	Folate-responsive megaloblastic anemia
113235	SLC46A1	HP:0100660	Dyskinesia
113235	SLC46A1	HP:0009830	Peripheral neuropathy
113235	SLC46A1	HP:0002305	Athetosis
113235	SLC46A1	HP:0004313	Decreased circulating antibody level
113235	SLC46A1	HP:0100022	Abnormality of movement
113235	SLC46A1	HP:0000737	Irritability
113235	SLC46A1	HP:0000708	Atypical behavior
113235	SLC46A1	HP:0003202	Skeletal muscle atrophy
113235	SLC46A1	HP:0000980	Pallor
113235	SLC46A1	HP:0000206	Glossitis
113235	SLC46A1	HP:0001508	Failure to thrive
113235	SLC46A1	HP:0001889	Megaloblastic anemia
113235	SLC46A1	HP:0001880	Eosinophilia
113235	SLC46A1	HP:0001882	Leukopenia
113235	SLC46A1	HP:0001873	Thrombocytopenia
113235	SLC46A1	HP:0001876	Pancytopenia
113235	SLC46A1	HP:0001875	Neutropenia
113246	C12orf57	HP:0001156	Brachydactyly
113246	C12orf57	HP:0001276	Hypertonia
113246	C12orf57	HP:0001274	Agenesis of corpus callosum
113246	C12orf57	HP:0001256	Intellectual disability, mild
113246	C12orf57	HP:0001250	Seizure
113246	C12orf57	HP:0001252	Hypotonia
113246	C12orf57	HP:0001263	Global developmental delay
113246	C12orf57	HP:0002553	Highly arched eyebrow
113246	C12orf57	HP:0012019	Lens luxation
113246	C12orf57	HP:0000007	Autosomal recessive inheritance
113246	C12orf57	HP:0002007	Frontal bossing
113246	C12orf57	HP:0002119	Ventriculomegaly
113246	C12orf57	HP:0003593	Infantile onset
113246	C12orf57	HP:0007074	Thick corpus callosum
113246	C12orf57	HP:0001083	Ectopia lentis
113246	C12orf57	HP:0003623	Neonatal onset
113246	C12orf57	HP:0004942	Aortic aneurysm
113246	C12orf57	HP:0000612	Iris coloboma
113246	C12orf57	HP:0000678	Dental crowding
113246	C12orf57	HP:0000685	Hypoplasia of teeth
113246	C12orf57	HP:0000742	Self-mutilation
113246	C12orf57	HP:0000276	Long face
113246	C12orf57	HP:0002827	Hip dislocation
113246	C12orf57	HP:0000394	Lop ear
113246	C12orf57	HP:0000369	Low-set ears
113246	C12orf57	HP:0000343	Long philtrum
113246	C12orf57	HP:0000347	Micrognathia
113246	C12orf57	HP:0000316	Hypertelorism
113246	C12orf57	HP:0001659	Aortic regurgitation
113246	C12orf57	HP:0000494	Downslanted palpebral fissures
113246	C12orf57	HP:0001763	Pes planus
113246	C12orf57	HP:0000444	Convex nasal ridge
113246	C12orf57	HP:0001762	Talipes equinovarus
113246	C12orf57	HP:0001885	Short 2nd toe
113246	C12orf57	HP:0000568	Microphthalmia
113246	C12orf57	HP:0000567	Chorioretinal coloboma
113246	C12orf57	HP:0000545	Myopia
113278	SLC52A3	HP:0003701	Proximal muscle weakness
113278	SLC52A3	HP:0001283	Bulbar palsy
113278	SLC52A3	HP:0001252	Hypotonia
113278	SLC52A3	HP:0001251	Ataxia
113278	SLC52A3	HP:0001349	Facial diplegia
113278	SLC52A3	HP:0001347	Hyperreflexia
113278	SLC52A3	HP:0000007	Autosomal recessive inheritance
113278	SLC52A3	HP:0001308	Tongue fasciculations
113278	SLC52A3	HP:0002650	Scoliosis
113278	SLC52A3	HP:0001317	Abnormal cerebellum morphology
113278	SLC52A3	HP:0002015	Dysphagia
113278	SLC52A3	HP:0005951	Progressive inspiratory stridor
113278	SLC52A3	HP:0002098	Respiratory distress
113278	SLC52A3	HP:0002094	Dyspnea
113278	SLC52A3	HP:0002093	Respiratory insufficiency
113278	SLC52A3	HP:0002058	Myopathic facies
113278	SLC52A3	HP:0002205	Recurrent respiratory infections
113278	SLC52A3	HP:0007034	Generalized hyperreflexia
113278	SLC52A3	HP:0010628	Facial palsy
113278	SLC52A3	HP:0007097	Cranial nerve motor loss
113278	SLC52A3	HP:0003676	Progressive
113278	SLC52A3	HP:0009830	Peripheral neuropathy
113278	SLC52A3	HP:0002312	Clumsiness
113278	SLC52A3	HP:0003621	Juvenile onset
113278	SLC52A3	HP:0006824	Cranial nerve paralysis
113278	SLC52A3	HP:0011449	Knee clonus
113278	SLC52A3	HP:0011448	Ankle clonus
113278	SLC52A3	HP:0009130	Hand muscle atrophy
113278	SLC52A3	HP:0009113	Diaphragmatic weakness
113278	SLC52A3	HP:0010307	Stridor
113278	SLC52A3	HP:0002808	Kyphosis
113278	SLC52A3	HP:0002877	Nocturnal hypoventilation
113278	SLC52A3	HP:0001605	Vocal cord paralysis
113278	SLC52A3	HP:0001621	Weak voice
113278	SLC52A3	HP:0000407	Sensorineural hearing impairment
113278	SLC52A3	HP:0012473	Tongue atrophy
113278	SLC52A3	HP:0000467	Neck muscle weakness
113278	SLC52A3	HP:0000508	Ptosis
113278	SLC52A3	HP:0000544	External ophthalmoplegia
113457	TUBA3D	HP:0000006	Autosomal dominant inheritance
113457	TUBA3D	HP:0007663	Reduced visual acuity
113457	TUBA3D	HP:0100689	Decreased corneal thickness
113457	TUBA3D	HP:0003621	Juvenile onset
113457	TUBA3D	HP:0000563	Keratoconus
113612	CYP2U1	HP:0002453	Abnormal globus pallidus morphology
113612	CYP2U1	HP:0001270	Motor delay
113612	CYP2U1	HP:0001249	Intellectual disability
113612	CYP2U1	HP:0001263	Global developmental delay
113612	CYP2U1	HP:0001258	Spastic paraplegia
113612	CYP2U1	HP:0007350	Hyperreflexia in upper limbs
113612	CYP2U1	HP:0002500	Abnormal cerebral white matter morphology
113612	CYP2U1	HP:0001332	Dystonia
113612	CYP2U1	HP:0000007	Autosomal recessive inheritance
113612	CYP2U1	HP:0100543	Cognitive impairment
113612	CYP2U1	HP:0002064	Spastic gait
113612	CYP2U1	HP:0002079	Hypoplasia of the corpus callosum
113612	CYP2U1	HP:0003477	Peripheral axonal neuropathy
113612	CYP2U1	HP:0003487	Babinski sign
113612	CYP2U1	HP:0002135	Basal ganglia calcification
113612	CYP2U1	HP:0003593	Infantile onset
113612	CYP2U1	HP:0003577	Congenital onset
113612	CYP2U1	HP:0002395	Lower limb hyperreflexia
113612	CYP2U1	HP:0002317	Unsteady gait
113612	CYP2U1	HP:0003621	Juvenile onset
113612	CYP2U1	HP:0031936	Delayed ability to walk
113612	CYP2U1	HP:0011463	Childhood onset
113612	CYP2U1	HP:0030051	Tip-toe gait
114034	TOE1	HP:0001276	Hypertonia
114034	TOE1	HP:0001250	Seizure
114034	TOE1	HP:0001252	Hypotonia
114034	TOE1	HP:0001251	Ataxia
114034	TOE1	HP:0001249	Intellectual disability
114034	TOE1	HP:0001266	Choreoathetosis
114034	TOE1	HP:0001263	Global developmental delay
114034	TOE1	HP:0001258	Spastic paraplegia
114034	TOE1	HP:0001257	Spasticity
114034	TOE1	HP:0008665	Clitoral hypertrophy
114034	TOE1	HP:0002500	Abnormal cerebral white matter morphology
114034	TOE1	HP:0000062	Ambiguous genitalia
114034	TOE1	HP:0000054	Micropenis
114034	TOE1	HP:0001347	Hyperreflexia
114034	TOE1	HP:0000028	Cryptorchidism
114034	TOE1	HP:0001324	Muscle weakness
114034	TOE1	HP:0001344	Absent speech
114034	TOE1	HP:0000007	Autosomal recessive inheritance
114034	TOE1	HP:0001336	Myoclonus
114034	TOE1	HP:0001308	Tongue fasciculations
114034	TOE1	HP:0001321	Cerebellar hypoplasia
114034	TOE1	HP:0000151	Aplasia of the uterus
114034	TOE1	HP:0012110	Hypoplasia of the pons
114034	TOE1	HP:0000133	Gonadal dysgenesis
114034	TOE1	HP:0002003	Large forehead
114034	TOE1	HP:0002002	Deep philtrum
114034	TOE1	HP:0002060	Abnormal cerebral morphology
114034	TOE1	HP:0002079	Hypoplasia of the corpus callosum
114034	TOE1	HP:0002059	Cerebral atrophy
114034	TOE1	HP:0002119	Ventriculomegaly
114034	TOE1	HP:0002104	Apnea
114034	TOE1	HP:0002179	Opisthotonus
114034	TOE1	HP:0003577	Congenital onset
114034	TOE1	HP:0011968	Feeding difficulties
114034	TOE1	HP:0002380	Fasciculations
114034	TOE1	HP:0002365	Hypoplasia of the brainstem
114034	TOE1	HP:0001010	Hypopigmentation of the skin
114034	TOE1	HP:0001007	Hirsutism
114034	TOE1	HP:0000639	Nystagmus
114034	TOE1	HP:0000648	Optic atrophy
114034	TOE1	HP:0000657	Oculomotor apraxia
114034	TOE1	HP:0000664	Synophrys
114034	TOE1	HP:0006955	Olivopontocerebellar hypoplasia
114034	TOE1	HP:0004305	Involuntary movements
114034	TOE1	HP:0000768	Pectus carinatum
114034	TOE1	HP:0000729	Autistic behavior
114034	TOE1	HP:0012856	Abnormal scrotal rugation
114034	TOE1	HP:0003202	Skeletal muscle atrophy
114034	TOE1	HP:0000954	Single transverse palmar crease
114034	TOE1	HP:0000286	Epicanthus
114034	TOE1	HP:0000238	Hydrocephalus
114034	TOE1	HP:0000253	Progressive microcephaly
114034	TOE1	HP:0000252	Microcephaly
114034	TOE1	HP:0000218	High palate
114034	TOE1	HP:0000215	Thick upper lip vermilion
114034	TOE1	HP:0030197	Fatigable weakness of skeletal muscles
114034	TOE1	HP:0000369	Low-set ears
114034	TOE1	HP:0000336	Prominent supraorbital ridges
114034	TOE1	HP:0000347	Micrognathia
114034	TOE1	HP:0000400	Macrotia
114034	TOE1	HP:0005280	Depressed nasal bridge
114034	TOE1	HP:0000455	Broad nasal tip
114034	TOE1	HP:0030261	Absent penis
114034	TOE1	HP:0030260	Microphallus
114034	TOE1	HP:0000431	Wide nasal bridge
114034	TOE1	HP:0000582	Upslanted palpebral fissure
114049	BUD23	HP:0001181	Adducted thumb
114049	BUD23	HP:0001136	Retinal arteriolar tortuosity
114049	BUD23	HP:0010880	Increased nuchal translucency
114049	BUD23	HP:0001297	Stroke
114049	BUD23	HP:0100817	Renovascular hypertension
114049	BUD23	HP:0001288	Gait disturbance
114049	BUD23	HP:0001252	Hypotonia
114049	BUD23	HP:0001251	Ataxia
114049	BUD23	HP:0001249	Intellectual disability
114049	BUD23	HP:0001260	Dysarthria
114049	BUD23	HP:0001257	Spasticity
114049	BUD23	HP:0001231	Abnormal fingernail morphology
114049	BUD23	HP:0002575	Tracheoesophageal fistula
114049	BUD23	HP:0008736	Hypoplasia of penis
114049	BUD23	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
114049	BUD23	HP:0008661	Urethral stenosis
114049	BUD23	HP:0000089	Renal hypoplasia
114049	BUD23	HP:0000083	Renal insufficiency
114049	BUD23	HP:0000093	Proteinuria
114049	BUD23	HP:0000076	Vesicoureteral reflux
114049	BUD23	HP:0000075	Renal duplication
114049	BUD23	HP:0000044	Hypogonadotropic hypogonadism
114049	BUD23	HP:0001388	Joint laxity
114049	BUD23	HP:0001387	Joint stiffness
114049	BUD23	HP:0000023	Inguinal hernia
114049	BUD23	HP:0000015	Bladder diverticulum
114049	BUD23	HP:0000014	Abnormality of the bladder
114049	BUD23	HP:0001347	Hyperreflexia
114049	BUD23	HP:0001361	Nystagmus-induced head nodding
114049	BUD23	HP:0000025	Functional abnormality of male internal genitalia
114049	BUD23	HP:0000028	Cryptorchidism
114049	BUD23	HP:0007495	Prematurely aged appearance
114049	BUD23	HP:0007477	Abnormal dermatoglyphics
114049	BUD23	HP:0000010	Recurrent urinary tract infections
114049	BUD23	HP:0001337	Tremor
114049	BUD23	HP:0001310	Dysmetria
114049	BUD23	HP:0002637	Cerebral ischemia
114049	BUD23	HP:0002650	Scoliosis
114049	BUD23	HP:0002644	Abnormal pelvic girdle bone morphology
114049	BUD23	HP:0002623	Overriding aorta
114049	BUD23	HP:0000179	Thick lower lip vermilion
114049	BUD23	HP:0000158	Macroglossia
114049	BUD23	HP:0000154	Wide mouth
114049	BUD23	HP:0000147	Polycystic ovaries
114049	BUD23	HP:0000121	Nephrocalcinosis
114049	BUD23	HP:0000125	Pelvic kidney
114049	BUD23	HP:0002750	Delayed skeletal maturation
114049	BUD23	HP:0002024	Malabsorption
114049	BUD23	HP:0002020	Gastroesophageal reflux
114049	BUD23	HP:0002019	Constipation
114049	BUD23	HP:0002017	Nausea and vomiting
114049	BUD23	HP:0002035	Rectal prolapse
114049	BUD23	HP:0002027	Abdominal pain
114049	BUD23	HP:0003312	Abnormal form of the vertebral bodies
114049	BUD23	HP:0003307	Hyperlordosis
114049	BUD23	HP:0005978	Type II diabetes mellitus
114049	BUD23	HP:0100539	Periorbital edema
114049	BUD23	HP:0100545	Arterial stenosis
114049	BUD23	HP:0002071	Abnormality of extrapyramidal motor function
114049	BUD23	HP:0002141	Gait imbalance
114049	BUD23	HP:0002150	Hypercalciuria
114049	BUD23	HP:0002120	Cerebral cortical atrophy
114049	BUD23	HP:0003422	Vertebral segmentation defect
114049	BUD23	HP:0002183	Phonophobia
114049	BUD23	HP:0002167	Abnormality of speech or vocalization
114049	BUD23	HP:0010526	Dysgraphia
114049	BUD23	HP:0002253	Colonic diverticula
114049	BUD23	HP:0002205	Recurrent respiratory infections
114049	BUD23	HP:0100785	Insomnia
114049	BUD23	HP:0010662	Abnormality of the diencephalon
114049	BUD23	HP:0010669	Hypoplasia of the zygomatic bone
114049	BUD23	HP:0007018	Attention deficit hyperactivity disorder
114049	BUD23	HP:0001052	Nevus flammeus
114049	BUD23	HP:0002376	Developmental regression
114049	BUD23	HP:0200021	Down-sloping shoulders
114049	BUD23	HP:0100659	Abnormal cerebral vascular morphology
114049	BUD23	HP:0010807	Open bite
114049	BUD23	HP:0100613	Death in early adulthood
114049	BUD23	HP:0001081	Cholelithiasis
114049	BUD23	HP:0008499	High hypermetropia
114049	BUD23	HP:0010780	Hyperacusis
114049	BUD23	HP:0002308	Chiari malformation
114049	BUD23	HP:0004969	Peripheral pulmonary artery stenosis
114049	BUD23	HP:0004209	Clinodactyly of the 5th finger
114049	BUD23	HP:0004295	Abnormal gastric mucosa morphology
114049	BUD23	HP:0005562	Multiple renal cysts
114049	BUD23	HP:0001969	Abnormal tubulointerstitial morphology
114049	BUD23	HP:0000635	Blue irides
114049	BUD23	HP:0000632	Lacrimation abnormality
114049	BUD23	HP:0000627	Posterior embryotoxon
114049	BUD23	HP:0000682	Abnormal dental enamel morphology
114049	BUD23	HP:0000691	Microdontia
114049	BUD23	HP:0000689	Dental malocclusion
114049	BUD23	HP:0000670	Carious teeth
114049	BUD23	HP:0012639	Abnormal nervous system morphology
114049	BUD23	HP:0000668	Hypodontia
114049	BUD23	HP:0004322	Short stature
114049	BUD23	HP:0004306	Abnormal endocardium morphology
114049	BUD23	HP:0004305	Involuntary movements
114049	BUD23	HP:0003072	Hypercalcemia
114049	BUD23	HP:0004381	Supravalvular aortic stenosis
114049	BUD23	HP:0004398	Peptic ulcer
114049	BUD23	HP:0005692	Joint hyperflexibility
114049	BUD23	HP:0003028	Abnormality of the ankle
114049	BUD23	HP:0100025	Overfriendliness
114049	BUD23	HP:0000767	Pectus excavatum
114049	BUD23	HP:0000739	Anxiety
114049	BUD23	HP:0000716	Depression
114049	BUD23	HP:0000717	Autism
114049	BUD23	HP:0000722	Compulsive behaviors
114049	BUD23	HP:0000787	Nephrolithiasis
114049	BUD23	HP:0003119	Abnormal circulating lipid concentration
114049	BUD23	HP:0004428	Elfin facies
114049	BUD23	HP:0003198	Myopathy
114049	BUD23	HP:0003196	Short nose
114049	BUD23	HP:0000826	Precocious puberty
114049	BUD23	HP:0000822	Hypertension
114049	BUD23	HP:0000821	Hypothyroidism
114049	BUD23	HP:0003236	Elevated circulating creatine kinase concentration
114049	BUD23	HP:0003298	Spina bifida occulta
114049	BUD23	HP:0000960	Sacral dimple
114049	BUD23	HP:0000939	Osteoporosis
114049	BUD23	HP:0000938	Osteopenia
114049	BUD23	HP:0100240	Synostosis of joints
114049	BUD23	HP:0008053	Aplasia/Hypoplasia of the iris
114049	BUD23	HP:0007720	Flat cornea
114049	BUD23	HP:0000286	Epicanthus
114049	BUD23	HP:0000280	Coarse facial features
114049	BUD23	HP:0000275	Narrow face
114049	BUD23	HP:0005113	Aortic arch aneurysm
114049	BUD23	HP:0002829	Arthralgia
114049	BUD23	HP:0002808	Kyphosis
114049	BUD23	HP:0000252	Microcephaly
114049	BUD23	HP:0001582	Redundant skin
114049	BUD23	HP:0000212	Gingival overgrowth
114049	BUD23	HP:0000232	Everted lower lip vermilion
114049	BUD23	HP:0001531	Failure to thrive in infancy
114049	BUD23	HP:0002857	Genu valgum
114049	BUD23	HP:0001537	Umbilical hernia
114049	BUD23	HP:0001513	Obesity
114049	BUD23	HP:0000389	Chronic otitis media
114049	BUD23	HP:0001609	Hoarse voice
114049	BUD23	HP:0001608	Abnormality of the voice
114049	BUD23	HP:0001618	Dysphonia
114049	BUD23	HP:0006482	Abnormality of dental morphology
114049	BUD23	HP:0000368	Low-set, posteriorly rotated ears
114049	BUD23	HP:0001671	Abnormal cardiac septum morphology
114049	BUD23	HP:0000343	Long philtrum
114049	BUD23	HP:0011001	Increased bone mineral density
114049	BUD23	HP:0000337	Broad forehead
114049	BUD23	HP:0002999	Patellar dislocation
114049	BUD23	HP:0000348	High forehead
114049	BUD23	HP:0000347	Micrognathia
114049	BUD23	HP:0001647	Bicuspid aortic valve
114049	BUD23	HP:0001643	Patent ductus arteriosus
114049	BUD23	HP:0001642	Pulmonic stenosis
114049	BUD23	HP:0001645	Sudden cardiac death
114049	BUD23	HP:0002974	Radioulnar synostosis
114049	BUD23	HP:0001658	Myocardial infarction
114049	BUD23	HP:0001653	Mitral regurgitation
114049	BUD23	HP:0001629	Ventricular septal defect
114049	BUD23	HP:0001626	Abnormality of the cardiovascular system
114049	BUD23	HP:0001640	Cardiomegaly
114049	BUD23	HP:0001639	Hypertrophic cardiomyopathy
114049	BUD23	HP:0001636	Tetralogy of Fallot
114049	BUD23	HP:0001635	Congestive heart failure
114049	BUD23	HP:0000307	Pointed chin
114049	BUD23	HP:0001631	Atrial septal defect
114049	BUD23	HP:0001634	Mitral valve prolapse
114049	BUD23	HP:0007957	Corneal opacity
114049	BUD23	HP:0005344	Abnormal carotid artery morphology
114049	BUD23	HP:0000407	Sensorineural hearing impairment
114049	BUD23	HP:0000400	Macrotia
114049	BUD23	HP:0000486	Strabismus
114049	BUD23	HP:0000485	Megalocornea
114049	BUD23	HP:0000464	Abnormality of the neck
114049	BUD23	HP:0012433	Abnormal social behavior
114049	BUD23	HP:0001763	Pes planus
114049	BUD23	HP:0000411	Protruding ear
114049	BUD23	HP:0000431	Wide nasal bridge
114049	BUD23	HP:0000518	Cataract
114049	BUD23	HP:0001822	Hallux valgus
114049	BUD23	HP:0000505	Visual impairment
114049	BUD23	HP:0000501	Glaucoma
114049	BUD23	HP:0001800	Hypoplastic toenails
114049	BUD23	HP:0000581	Blepharophimosis
114049	BUD23	HP:0000545	Myopia
114327	EFHC1	HP:0001249	Intellectual disability
114327	EFHC1	HP:0012001	EEG with generalized polyspikes
114327	EFHC1	HP:0000006	Autosomal dominant inheritance
114327	EFHC1	HP:0001336	Myoclonus
114327	EFHC1	HP:0000153	Abnormality of the mouth
114327	EFHC1	HP:0002069	Bilateral tonic-clonic seizure
114327	EFHC1	HP:0002123	Generalized myoclonic seizure
114327	EFHC1	HP:0002121	Generalized non-motor (absence) seizure
114327	EFHC1	HP:0002133	Status epilepticus
114327	EFHC1	HP:0002197	Generalized-onset seizure
114327	EFHC1	HP:0007000	Morning myoclonic jerks
114327	EFHC1	HP:0002392	EEG with polyspike wave complexes
114327	EFHC1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
114327	EFHC1	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
114327	EFHC1	HP:0007207	Photosensitive tonic-clonic seizure
114327	EFHC1	HP:0003621	Juvenile onset
114327	EFHC1	HP:0007193	Bilateral tonic-clonic seizure on awakening
114327	EFHC1	HP:0000718	Aggressive behavior
114327	EFHC1	HP:0000496	Abnormality of eye movement
114548	NLRP3	HP:0025143	Chills
114548	NLRP3	HP:0001156	Brachydactyly
114548	NLRP3	HP:0009926	Epiphora
114548	NLRP3	HP:0001287	Meningitis
114548	NLRP3	HP:0001250	Seizure
114548	NLRP3	HP:0001249	Intellectual disability
114548	NLRP3	HP:0001263	Global developmental delay
114548	NLRP3	HP:0002516	Increased intracranial pressure
114548	NLRP3	HP:0032323	Periodic fever
114548	NLRP3	HP:0000083	Renal insufficiency
114548	NLRP3	HP:0000078	Abnormality of the genital system
114548	NLRP3	HP:0001373	Joint dislocation
114548	NLRP3	HP:0001367	Abnormal joint morphology
114548	NLRP3	HP:0001369	Arthritis
114548	NLRP3	HP:0000006	Autosomal dominant inheritance
114548	NLRP3	HP:0002633	Vasculitis
114548	NLRP3	HP:0002652	Skeletal dysplasia
114548	NLRP3	HP:0000174	Abnormal palate morphology
114548	NLRP3	HP:0001476	Delayed closure of the anterior fontanelle
114548	NLRP3	HP:0000100	Nephrotic syndrome
114548	NLRP3	HP:0000112	Nephropathy
114548	NLRP3	HP:0001433	Hepatosplenomegaly
114548	NLRP3	HP:0002716	Lymphadenopathy
114548	NLRP3	HP:0002017	Nausea and vomiting
114548	NLRP3	HP:0002027	Abdominal pain
114548	NLRP3	HP:0003326	Myalgia
114548	NLRP3	HP:0002007	Frontal bossing
114548	NLRP3	HP:0100534	Episcleritis
114548	NLRP3	HP:0100533	Inflammatory abnormality of the eye
114548	NLRP3	HP:0002091	Restrictive ventilatory defect
114548	NLRP3	HP:0002076	Migraine
114548	NLRP3	HP:0030953	Conjunctival hyperemia
114548	NLRP3	HP:0100490	Camptodactyly of finger
114548	NLRP3	HP:0003593	Infantile onset
114548	NLRP3	HP:0002240	Hepatomegaly
114548	NLRP3	HP:0003565	Elevated erythrocyte sedimentation rate
114548	NLRP3	HP:0100759	Clubbing of fingers
114548	NLRP3	HP:0033308	Patellar overgrowth
114548	NLRP3	HP:0001004	Lymphedema
114548	NLRP3	HP:0001025	Urticaria
114548	NLRP3	HP:0002353	EEG abnormality
114548	NLRP3	HP:0003677	Slowly progressive
114548	NLRP3	HP:0002315	Headache
114548	NLRP3	HP:0100654	Retrobulbar optic neuritis
114548	NLRP3	HP:0200034	Papule
114548	NLRP3	HP:0001085	Papilledema
114548	NLRP3	HP:0010783	Erythema
114548	NLRP3	HP:0032154	Aphthous ulcer
114548	NLRP3	HP:0003623	Neonatal onset
114548	NLRP3	HP:0003621	Juvenile onset
114548	NLRP3	HP:0006824	Cranial nerve paralysis
114548	NLRP3	HP:0004299	Hernia of the abdominal wall
114548	NLRP3	HP:0000648	Optic atrophy
114548	NLRP3	HP:0001974	Leukocytosis
114548	NLRP3	HP:0000618	Blindness
114548	NLRP3	HP:0000613	Photophobia
114548	NLRP3	HP:0001944	Dehydration
114548	NLRP3	HP:0001945	Fever
114548	NLRP3	HP:0001959	Polydipsia
114548	NLRP3	HP:0001954	Recurrent fever
114548	NLRP3	HP:0000622	Blurred vision
114548	NLRP3	HP:0001939	Abnormality of metabolism/homeostasis
114548	NLRP3	HP:0001903	Anemia
114548	NLRP3	HP:0001917	Renal amyloidosis
114548	NLRP3	HP:0001911	Abnormal granulocyte morphology
114548	NLRP3	HP:0004322	Short stature
114548	NLRP3	HP:0004349	Reduced bone mineral density
114548	NLRP3	HP:0100014	Epiretinal membrane
114548	NLRP3	HP:0011463	Childhood onset
114548	NLRP3	HP:0011462	Young adult onset
114548	NLRP3	HP:0005764	Polyarticular arthritis
114548	NLRP3	HP:0000823	Delayed puberty
114548	NLRP3	HP:0000979	Purpura
114548	NLRP3	HP:0000975	Hyperhidrosis
114548	NLRP3	HP:0000989	Pruritus
114548	NLRP3	HP:0000988	Skin rash
114548	NLRP3	HP:0000969	Edema
114548	NLRP3	HP:0008064	Ichthyosis
114548	NLRP3	HP:0040186	Maculopapular exanthema
114548	NLRP3	HP:0000256	Macrocephaly
114548	NLRP3	HP:0007759	Opacification of the corneal stroma
114548	NLRP3	HP:0002829	Arthralgia
114548	NLRP3	HP:0001510	Growth delay
114548	NLRP3	HP:0012378	Fatigue
114548	NLRP3	HP:0001608	Abnormality of the voice
114548	NLRP3	HP:0000365	Hearing impairment
114548	NLRP3	HP:0000366	Abnormality of the nose
114548	NLRP3	HP:0001622	Premature birth
114548	NLRP3	HP:0000408	Progressive sensorineural hearing impairment
114548	NLRP3	HP:0000407	Sensorineural hearing impairment
114548	NLRP3	HP:0000491	Keratitis
114548	NLRP3	HP:0011107	Recurrent aphthous stomatitis
114548	NLRP3	HP:0012432	Chronic fatigue
114548	NLRP3	HP:0001769	Broad foot
114548	NLRP3	HP:0001744	Splenomegaly
114548	NLRP3	HP:0001761	Pes cavus
114548	NLRP3	HP:0000520	Proptosis
114548	NLRP3	HP:0000509	Conjunctivitis
114548	NLRP3	HP:0000505	Visual impairment
114548	NLRP3	HP:0000501	Glaucoma
114548	NLRP3	HP:0011227	Elevated circulating C-reactive protein concentration
114548	NLRP3	HP:0000554	Uveitis
114548	NLRP3	HP:0012534	Dysesthesia
114548	NLRP3	HP:0001872	Abnormality of thrombocytes
114548	NLRP3	HP:0000538	Pseudopapilledema
114548	NLRP3	HP:0001880	Eosinophilia
114548	NLRP3	HP:0001874	Abnormality of neutrophils
114798	SLITRK1	HP:0000006	Autosomal dominant inheritance
114798	SLITRK1	HP:0012167	Hair-pulling
114798	SLITRK1	HP:0001426	Multifactorial inheritance
114798	SLITRK1	HP:0010529	Echolalia
114798	SLITRK1	HP:0007018	Attention deficit hyperactivity disorder
114798	SLITRK1	HP:0002360	Sleep disturbance
114798	SLITRK1	HP:0100035	Phonic tics
114798	SLITRK1	HP:0100034	Motor tics
114798	SLITRK1	HP:0000742	Self-mutilation
114798	SLITRK1	HP:0000718	Aggressive behavior
114798	SLITRK1	HP:0001596	Alopecia
114803	MYSM1	HP:0001156	Brachydactyly
114803	MYSM1	HP:0001249	Intellectual disability
114803	MYSM1	HP:0001263	Global developmental delay
114803	MYSM1	HP:0010976	B lymphocytopenia
114803	MYSM1	HP:0000007	Autosomal recessive inheritance
114803	MYSM1	HP:0008905	Rhizomelia
114803	MYSM1	HP:0001482	Subcutaneous nodule
114803	MYSM1	HP:0002783	Recurrent lower respiratory tract infections
114803	MYSM1	HP:0002788	Recurrent upper respiratory tract infections
114803	MYSM1	HP:0011800	Midface retrusion
114803	MYSM1	HP:0003577	Congenital onset
114803	MYSM1	HP:0002205	Recurrent respiratory infections
114803	MYSM1	HP:0004991	Rhizomelic arm shortening
114803	MYSM1	HP:0006872	Cerebral hypoplasia
114803	MYSM1	HP:0005528	Bone marrow hypocellularity
114803	MYSM1	HP:0001903	Anemia
114803	MYSM1	HP:0010049	Short metacarpal
114803	MYSM1	HP:0000684	Delayed eruption of teeth
114803	MYSM1	HP:0001999	Abnormal facial shape
114803	MYSM1	HP:0004322	Short stature
114803	MYSM1	HP:0004313	Decreased circulating antibody level
114803	MYSM1	HP:0000765	Abnormal thorax morphology
114803	MYSM1	HP:0012758	Neurodevelopmental delay
114803	MYSM1	HP:0000916	Broad clavicles
114803	MYSM1	HP:0005792	Short humerus
114803	MYSM1	HP:0012817	Noncompaction cardiomyopathy
114803	MYSM1	HP:0000958	Dry skin
114803	MYSM1	HP:0000964	Eczema
114803	MYSM1	HP:0000280	Coarse facial features
114803	MYSM1	HP:0000243	Trigonocephaly
114803	MYSM1	HP:0000252	Microcephaly
114803	MYSM1	HP:0000212	Gingival overgrowth
114803	MYSM1	HP:0002863	Myelodysplasia
114803	MYSM1	HP:0005180	Tricuspid regurgitation
114803	MYSM1	HP:0000365	Hearing impairment
114803	MYSM1	HP:0000369	Low-set ears
114803	MYSM1	HP:0001635	Congestive heart failure
114803	MYSM1	HP:0012490	Panniculitis
114803	MYSM1	HP:0000518	Cataract
114803	MYSM1	HP:0031688	Erythroid dysplasia
114803	MYSM1	HP:0031689	Megakaryocyte dysplasia
114803	MYSM1	HP:0001888	Lymphopenia
114803	MYSM1	HP:0001896	Reticulocytopenia
114803	MYSM1	HP:0001882	Leukopenia
114803	MYSM1	HP:0001873	Thrombocytopenia
114803	MYSM1	HP:0001875	Neutropenia
114902	C1QTNF5	HP:0001141	Severely reduced visual acuity
114902	C1QTNF5	HP:0007401	Macular atrophy
114902	C1QTNF5	HP:0000006	Autosomal dominant inheritance
114902	C1QTNF5	HP:0500087	Peripapillary atrophy
114902	C1QTNF5	HP:0003581	Adult onset
114902	C1QTNF5	HP:0001099	Fundus atrophy
114902	C1QTNF5	HP:0200065	Chorioretinal degeneration
114902	C1QTNF5	HP:0001089	Iris atrophy
114902	C1QTNF5	HP:0030534	Abnormal best corrected visual acuity test
114902	C1QTNF5	HP:0012628	Abnormal suspensory ligament of lens morphology
114902	C1QTNF5	HP:0000642	Red-green dyschromatopsia
114902	C1QTNF5	HP:0000613	Photophobia
114902	C1QTNF5	HP:0000608	Macular degeneration
114902	C1QTNF5	HP:0000662	Nyctalopia
114902	C1QTNF5	HP:0004328	Abnormal anterior eye segment morphology
114902	C1QTNF5	HP:0100014	Epiretinal membrane
114902	C1QTNF5	HP:0011510	Drusen
114902	C1QTNF5	HP:0011506	Choroidal neovascularization
114902	C1QTNF5	HP:0012805	Iris transillumination defect
114902	C1QTNF5	HP:0007791	Patchy atrophy of the retinal pigment epithelium
114902	C1QTNF5	HP:0007830	Adult-onset night blindness
114902	C1QTNF5	HP:0031530	Multifocal subretinal deposits
114902	C1QTNF5	HP:0031531	Sub-RPE deposits
114902	C1QTNF5	HP:0007906	Ocular hypertension
114902	C1QTNF5	HP:0000488	Retinopathy
114902	C1QTNF5	HP:0000575	Scotoma
114902	C1QTNF5	HP:0000572	Visual loss
114902	C1QTNF5	HP:0000533	Chorioretinal atrophy
114902	C1QTNF5	HP:0000552	Tritanomaly
114902	C1QTNF5	HP:0000546	Retinal degeneration
114928	GPRASP2	HP:0001249	Intellectual disability
114928	GPRASP2	HP:0001263	Global developmental delay
114928	GPRASP2	HP:0001419	X-linked recessive inheritance
114928	GPRASP2	HP:0003577	Congenital onset
114928	GPRASP2	HP:0011480	Unilateral microphthalmos
114928	GPRASP2	HP:0000365	Hearing impairment
114928	GPRASP2	HP:0000358	Posteriorly rotated ears
114928	GPRASP2	HP:0000402	Stenosis of the external auditory canal
114928	GPRASP2	HP:0000413	Atresia of the external auditory canal
114928	GPRASP2	HP:0000431	Wide nasal bridge
114928	GPRASP2	HP:0000506	Telecanthus
114928	GPRASP2	HP:0000508	Ptosis
114928	GPRASP2	HP:0000574	Thick eyebrow
115019	SLC26A9	HP:0032261	Nontuberculous mycobacterial pulmonary infection
115019	SLC26A9	HP:0002570	Steatorrhea
115019	SLC26A9	HP:0032342	Reduced forced expiratory volume in one second
115019	SLC26A9	HP:0001392	Abnormality of the liver
115019	SLC26A9	HP:0001394	Cirrhosis
115019	SLC26A9	HP:0002726	Recurrent Staphylococcus aureus infections
115019	SLC26A9	HP:0002724	Recurrent Aspergillus infections
115019	SLC26A9	HP:0002024	Malabsorption
115019	SLC26A9	HP:0002020	Gastroesophageal reflux
115019	SLC26A9	HP:0002035	Rectal prolapse
115019	SLC26A9	HP:0002099	Asthma
115019	SLC26A9	HP:0100582	Nasal polyposis
115019	SLC26A9	HP:0002110	Bronchiectasis
115019	SLC26A9	HP:0002107	Pneumothorax
115019	SLC26A9	HP:0002105	Hemoptysis
115019	SLC26A9	HP:0002205	Recurrent respiratory infections
115019	SLC26A9	HP:0000739	Anxiety
115019	SLC26A9	HP:0000716	Depression
115019	SLC26A9	HP:0000787	Nephrolithiasis
115019	SLC26A9	HP:0004401	Meconium ileus
115019	SLC26A9	HP:0012873	Absent vas deferens
115019	SLC26A9	HP:0045082	Decreased body mass index
115019	SLC26A9	HP:0000939	Osteoporosis
115019	SLC26A9	HP:0000938	Osteopenia
115019	SLC26A9	HP:0012236	Elevated sweat chloride
115019	SLC26A9	HP:0000246	Sinusitis
115019	SLC26A9	HP:0001508	Failure to thrive
115019	SLC26A9	HP:0002842	Recurrent Burkholderia cepacia infections
115019	SLC26A9	HP:0006536	Airway obstruction
115019	SLC26A9	HP:0002910	Elevated hepatic transaminase
115019	SLC26A9	HP:0000365	Hearing impairment
115019	SLC26A9	HP:0005376	Recurrent Haemophilus influenzae infections
115019	SLC26A9	HP:0001738	Exocrine pancreatic insufficiency
115286	SLC25A26	HP:0001290	Generalized hypotonia
115286	SLC25A26	HP:0001263	Global developmental delay
115286	SLC25A26	HP:0003828	Variable expressivity
115286	SLC25A26	HP:0001324	Muscle weakness
115286	SLC25A26	HP:0000007	Autosomal recessive inheritance
115286	SLC25A26	HP:0002027	Abdominal pain
115286	SLC25A26	HP:0002151	Increased serum lactate
115286	SLC25A26	HP:0011923	Decreased activity of mitochondrial complex I
115286	SLC25A26	HP:0003593	Infantile onset
115286	SLC25A26	HP:0003542	Increased serum pyruvate
115286	SLC25A26	HP:0008347	Decreased activity of mitochondrial complex IV
115286	SLC25A26	HP:0004900	Severe lactic acidosis
115286	SLC25A26	HP:0004396	Poor appetite
115286	SLC25A26	HP:0003200	Ragged-red muscle fibers
115286	SLC25A26	HP:0002878	Respiratory failure
115286	SLC25A26	HP:0001561	Polyhydramnios
115286	SLC25A26	HP:0001558	Decreased fetal movement
115286	SLC25A26	HP:0012378	Fatigue
115286	SLC25A26	HP:0001635	Congestive heart failure
115399	LRRC56	HP:0025177	Peribronchovascular interstitial thickening
115399	LRRC56	HP:0002566	Intestinal malrotation
115399	LRRC56	HP:0001217	Clubbing
115399	LRRC56	HP:0000007	Autosomal recessive inheritance
115399	LRRC56	HP:0002643	Neonatal respiratory distress
115399	LRRC56	HP:0002783	Recurrent lower respiratory tract infections
115399	LRRC56	HP:0000119	Abnormality of the genitourinary system
115399	LRRC56	HP:0032543	Lithoptysis
115399	LRRC56	HP:0031245	Productive cough
115399	LRRC56	HP:0002011	Morphological central nervous system abnormality
115399	LRRC56	HP:0100582	Nasal polyposis
115399	LRRC56	HP:0002119	Ventriculomegaly
115399	LRRC56	HP:0002110	Bronchiectasis
115399	LRRC56	HP:0008222	Female infertility
115399	LRRC56	HP:0003577	Congenital onset
115399	LRRC56	HP:0002257	Chronic rhinitis
115399	LRRC56	HP:0100750	Atelectasis
115399	LRRC56	HP:0032016	Abnormal sputum
115399	LRRC56	HP:0011947	Respiratory tract infection
115399	LRRC56	HP:0010772	Anomalous pulmonary venous return
115399	LRRC56	HP:0030680	Abnormality of cardiovascular system morphology
115399	LRRC56	HP:0012735	Cough
115399	LRRC56	HP:0000750	Delayed speech and language development
115399	LRRC56	HP:0000924	Abnormality of the skeletal system
115399	LRRC56	HP:0011539	Atrial situs ambiguous
115399	LRRC56	HP:0011535	Abnormal atrial arrangement
115399	LRRC56	HP:0030828	Wheezing
115399	LRRC56	HP:0003251	Male infertility
115399	LRRC56	HP:0011617	Pulmonary situs ambiguus
115399	LRRC56	HP:0033036	Decreased nasal nitric oxide
115399	LRRC56	HP:0025576	Abnormal inferior vena cava morphology
115399	LRRC56	HP:0031417	Rhinorrhea
115399	LRRC56	HP:0000238	Hydrocephalus
115399	LRRC56	HP:0012206	Abnormal sperm motility
115399	LRRC56	HP:0002878	Respiratory failure
115399	LRRC56	HP:0000389	Chronic otitis media
115399	LRRC56	HP:0006528	Chronic lung disease
115399	LRRC56	HP:0006536	Airway obstruction
115399	LRRC56	HP:0001696	Situs inversus totalis
115399	LRRC56	HP:0000365	Hearing impairment
115399	LRRC56	HP:0001669	Transposition of the great arteries
115399	LRRC56	HP:0031456	Ectopic pregnancy
115399	LRRC56	HP:0001651	Dextrocardia
115399	LRRC56	HP:0001627	Abnormal heart morphology
115399	LRRC56	HP:0005301	Persistent left superior vena cava
115399	LRRC56	HP:0000403	Recurrent otitis media
115399	LRRC56	HP:0000405	Conductive hearing impairment
115399	LRRC56	HP:0001719	Double outlet right ventricle
115399	LRRC56	HP:0011109	Chronic sinusitis
115399	LRRC56	HP:0001746	Asplenia
115399	LRRC56	HP:0001748	Polysplenia
115399	LRRC56	HP:0001742	Nasal congestion
115399	LRRC56	HP:0005425	Recurrent sinopulmonary infections
115399	LRRC56	HP:0011274	Recurrent mycobacterial infections
115399	LRRC56	HP:0000510	Rod-cone dystrophy
115650	TNFRSF13C	HP:0001287	Meningitis
115650	TNFRSF13C	HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine
115650	TNFRSF13C	HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
115650	TNFRSF13C	HP:0001392	Abnormality of the liver
115650	TNFRSF13C	HP:0002664	Neoplasm
115650	TNFRSF13C	HP:0000007	Autosomal recessive inheritance
115650	TNFRSF13C	HP:0002665	Lymphoma
115650	TNFRSF13C	HP:0000006	Autosomal dominant inheritance
115650	TNFRSF13C	HP:0002633	Vasculitis
115650	TNFRSF13C	HP:0002718	Recurrent bacterial infections
115650	TNFRSF13C	HP:0002716	Lymphadenopathy
115650	TNFRSF13C	HP:0002729	Follicular hyperplasia
115650	TNFRSF13C	HP:0002720	Decreased circulating IgA level
115650	TNFRSF13C	HP:0002721	Immunodeficiency
115650	TNFRSF13C	HP:0002023	Anal atresia
115650	TNFRSF13C	HP:0002014	Diarrhea
115650	TNFRSF13C	HP:0002097	Emphysema
115650	TNFRSF13C	HP:0002090	Pneumonia
115650	TNFRSF13C	HP:0002091	Restrictive ventilatory defect
115650	TNFRSF13C	HP:0002110	Bronchiectasis
115650	TNFRSF13C	HP:0011839	Abnormal T cell count
115650	TNFRSF13C	HP:0002240	Hepatomegaly
115650	TNFRSF13C	HP:0003581	Adult onset
115650	TNFRSF13C	HP:0002205	Recurrent respiratory infections
115650	TNFRSF13C	HP:0100723	Gastrointestinal stroma tumor
115650	TNFRSF13C	HP:0001973	Autoimmune thrombocytopenia
115650	TNFRSF13C	HP:0004315	Decreased circulating IgG level
115650	TNFRSF13C	HP:0004313	Decreased circulating antibody level
115650	TNFRSF13C	HP:0000979	Purpura
115650	TNFRSF13C	HP:0002829	Arthralgia
115650	TNFRSF13C	HP:0000248	Brachycephaly
115650	TNFRSF13C	HP:0001531	Failure to thrive in infancy
115650	TNFRSF13C	HP:0002837	Recurrent bronchitis
115650	TNFRSF13C	HP:0002850	Decreased circulating total IgM
115650	TNFRSF13C	HP:0000389	Chronic otitis media
115650	TNFRSF13C	HP:0000388	Otitis media
115650	TNFRSF13C	HP:0006532	Recurrent pneumonia
115650	TNFRSF13C	HP:0002910	Elevated hepatic transaminase
115650	TNFRSF13C	HP:0002960	Autoimmunity
115650	TNFRSF13C	HP:0005387	Combined immunodeficiency
115650	TNFRSF13C	HP:0000403	Recurrent otitis media
115650	TNFRSF13C	HP:0011108	Recurrent sinusitis
115650	TNFRSF13C	HP:0001744	Splenomegaly
115650	TNFRSF13C	HP:0006783	Posterior pharyngeal cleft
115650	TNFRSF13C	HP:0005435	Impaired T cell function
115650	TNFRSF13C	HP:0000509	Conjunctivitis
115650	TNFRSF13C	HP:0001888	Lymphopenia
115650	TNFRSF13C	HP:0001878	Hemolytic anemia
115908	CTHRC1	HP:0001428	Somatic mutation
115908	CTHRC1	HP:0002020	Gastroesophageal reflux
115908	CTHRC1	HP:0100580	Barrett esophagus
115908	CTHRC1	HP:0004791	Esophageal ulceration
115908	CTHRC1	HP:0011459	Esophageal carcinoma
115948	ODAD3	HP:0025177	Peribronchovascular interstitial thickening
115948	ODAD3	HP:0002566	Intestinal malrotation
115948	ODAD3	HP:0001217	Clubbing
115948	ODAD3	HP:0000007	Autosomal recessive inheritance
115948	ODAD3	HP:0002643	Neonatal respiratory distress
115948	ODAD3	HP:0000119	Abnormality of the genitourinary system
115948	ODAD3	HP:0032543	Lithoptysis
115948	ODAD3	HP:0031245	Productive cough
115948	ODAD3	HP:0002011	Morphological central nervous system abnormality
115948	ODAD3	HP:0002099	Asthma
115948	ODAD3	HP:0002093	Respiratory insufficiency
115948	ODAD3	HP:0100582	Nasal polyposis
115948	ODAD3	HP:0002119	Ventriculomegaly
115948	ODAD3	HP:0002110	Bronchiectasis
115948	ODAD3	HP:0008222	Female infertility
115948	ODAD3	HP:0003577	Congenital onset
115948	ODAD3	HP:0002257	Chronic rhinitis
115948	ODAD3	HP:0002205	Recurrent respiratory infections
115948	ODAD3	HP:0100750	Atelectasis
115948	ODAD3	HP:0032016	Abnormal sputum
115948	ODAD3	HP:0011947	Respiratory tract infection
115948	ODAD3	HP:0200073	Respiratory insufficiency due to defective ciliary clearance
115948	ODAD3	HP:0010772	Anomalous pulmonary venous return
115948	ODAD3	HP:0030680	Abnormality of cardiovascular system morphology
115948	ODAD3	HP:0012735	Cough
115948	ODAD3	HP:0000750	Delayed speech and language development
115948	ODAD3	HP:0000924	Abnormality of the skeletal system
115948	ODAD3	HP:0004469	Chronic bronchitis
115948	ODAD3	HP:0011539	Atrial situs ambiguous
115948	ODAD3	HP:0011535	Abnormal atrial arrangement
115948	ODAD3	HP:0030828	Wheezing
115948	ODAD3	HP:0003251	Male infertility
115948	ODAD3	HP:0011617	Pulmonary situs ambiguus
115948	ODAD3	HP:0033036	Decreased nasal nitric oxide
115948	ODAD3	HP:0025576	Abnormal inferior vena cava morphology
115948	ODAD3	HP:0012265	Ciliary dyskinesia
115948	ODAD3	HP:0012256	Absent outer dynein arms
115948	ODAD3	HP:0000238	Hydrocephalus
115948	ODAD3	HP:0012206	Abnormal sperm motility
115948	ODAD3	HP:0002878	Respiratory failure
115948	ODAD3	HP:0000389	Chronic otitis media
115948	ODAD3	HP:0006536	Airway obstruction
115948	ODAD3	HP:0001696	Situs inversus totalis
115948	ODAD3	HP:0000365	Hearing impairment
115948	ODAD3	HP:0001669	Transposition of the great arteries
115948	ODAD3	HP:0031456	Ectopic pregnancy
115948	ODAD3	HP:0001651	Dextrocardia
115948	ODAD3	HP:0001629	Ventricular septal defect
115948	ODAD3	HP:0001627	Abnormal heart morphology
115948	ODAD3	HP:0005301	Persistent left superior vena cava
115948	ODAD3	HP:0000403	Recurrent otitis media
115948	ODAD3	HP:0000405	Conductive hearing impairment
115948	ODAD3	HP:0001719	Double outlet right ventricle
115948	ODAD3	HP:0011109	Chronic sinusitis
115948	ODAD3	HP:0001746	Asplenia
115948	ODAD3	HP:0001748	Polysplenia
115948	ODAD3	HP:0001742	Nasal congestion
115948	ODAD3	HP:0005425	Recurrent sinopulmonary infections
115948	ODAD3	HP:0011274	Recurrent mycobacterial infections
115948	ODAD3	HP:0000510	Rod-cone dystrophy
116085	SLC22A12	HP:0008651	Uric acid urolithiasis independent of gout
116085	SLC22A12	HP:0008682	Renal tubular epithelial necrosis
116085	SLC22A12	HP:0000091	Abnormal renal tubule morphology
116085	SLC22A12	HP:0000093	Proteinuria
116085	SLC22A12	HP:0000007	Autosomal recessive inheritance
116085	SLC22A12	HP:0030973	Postexertional symptom exacerbation
116085	SLC22A12	HP:0002018	Nausea
116085	SLC22A12	HP:0002013	Vomiting
116085	SLC22A12	HP:0100520	Oliguria
116085	SLC22A12	HP:0033132	Renal cortical hyperechogenicity
116085	SLC22A12	HP:0002150	Hypercalciuria
116085	SLC22A12	HP:0003418	Back pain
116085	SLC22A12	HP:0003537	Hypouricemia
116085	SLC22A12	HP:0012622	Chronic kidney disease
116085	SLC22A12	HP:0001919	Acute kidney injury
116085	SLC22A12	HP:0000791	Uric acid nephrolithiasis
116085	SLC22A12	HP:0000790	Hematuria
116085	SLC22A12	HP:0003149	Hyperuricosuria
116085	SLC22A12	HP:0003138	Increased blood urea nitrogen
116085	SLC22A12	HP:0003259	Elevated circulating creatinine concentration
116085	SLC22A12	HP:0034368	Urolithiasis
116085	SLC22A12	HP:0012213	Decreased glomerular filtration rate
116085	SLC22A12	HP:0012211	Abnormal renal physiology
116085	SLC22A12	HP:0025710	Late young adult onset
116085	SLC22A12	HP:0025709	Intermediate young adult onset
116085	SLC22A12	HP:0012595	Mild proteinuria
116115	ZNF526	HP:0009879	Simplified gyral pattern
116115	ZNF526	HP:0002421	Poor head control
116115	ZNF526	HP:0001276	Hypertonia
116115	ZNF526	HP:0002540	Inability to walk
116115	ZNF526	HP:0002521	Hypsarrhythmia
116115	ZNF526	HP:0033725	Thin corpus callosum
116115	ZNF526	HP:0000007	Autosomal recessive inheritance
116115	ZNF526	HP:0000154	Wide mouth
116115	ZNF526	HP:0008936	Axial hypotonia
116115	ZNF526	HP:0002069	Bilateral tonic-clonic seizure
116115	ZNF526	HP:0002188	Delayed CNS myelination
116115	ZNF526	HP:0003593	Infantile onset
116115	ZNF526	HP:0000687	Widely spaced teeth
116115	ZNF526	HP:0012736	Profound global developmental delay
116115	ZNF526	HP:0011461	Fetal onset
116115	ZNF526	HP:0000826	Precocious puberty
116115	ZNF526	HP:0000252	Microcephaly
116115	ZNF526	HP:0000219	Thin upper lip vermilion
116115	ZNF526	HP:0011097	Epileptic spasm
116115	ZNF526	HP:0000365	Hearing impairment
116115	ZNF526	HP:0000340	Sloping forehead
116115	ZNF526	HP:0032794	Myoclonic seizure
116115	ZNF526	HP:0000316	Hypertelorism
116115	ZNF526	HP:0000307	Pointed chin
116115	ZNF526	HP:0000400	Macrotia
116115	ZNF526	HP:0000426	Prominent nasal bridge
116115	ZNF526	HP:0000518	Cataract
116115	ZNF526	HP:0000582	Upslanted palpebral fissure
116150	NUS1	HP:0002421	Poor head control
116150	NUS1	HP:0001298	Encephalopathy
116150	NUS1	HP:0001290	Generalized hypotonia
116150	NUS1	HP:0001273	Abnormal corpus callosum morphology
116150	NUS1	HP:0001270	Motor delay
116150	NUS1	HP:0001268	Mental deterioration
116150	NUS1	HP:0001250	Seizure
116150	NUS1	HP:0001251	Ataxia
116150	NUS1	HP:0001249	Intellectual disability
116150	NUS1	HP:0001265	Hyporeflexia
116150	NUS1	HP:0001260	Dysarthria
116150	NUS1	HP:0001263	Global developmental delay
116150	NUS1	HP:0001257	Spasticity
116150	NUS1	HP:0002521	Hypsarrhythmia
116150	NUS1	HP:0002509	Limb hypertonia
116150	NUS1	HP:0000007	Autosomal recessive inheritance
116150	NUS1	HP:0001337	Tremor
116150	NUS1	HP:0000006	Autosomal dominant inheritance
116150	NUS1	HP:0001336	Myoclonus
116150	NUS1	HP:0002650	Scoliosis
116150	NUS1	HP:0001315	Reduced tendon reflexes
116150	NUS1	HP:0008936	Axial hypotonia
116150	NUS1	HP:0002020	Gastroesophageal reflux
116150	NUS1	HP:0002069	Bilateral tonic-clonic seizure
116150	NUS1	HP:0002066	Gait ataxia
116150	NUS1	HP:0002063	Rigidity
116150	NUS1	HP:0002059	Cerebral atrophy
116150	NUS1	HP:0002123	Generalized myoclonic seizure
116150	NUS1	HP:0002120	Cerebral cortical atrophy
116150	NUS1	HP:0002121	Generalized non-motor (absence) seizure
116150	NUS1	HP:0002133	Status epilepticus
116150	NUS1	HP:0003577	Congenital onset
116150	NUS1	HP:0100704	Cerebral visual impairment
116150	NUS1	HP:0100710	Impulsivity
116150	NUS1	HP:0200134	Epileptic encephalopathy
116150	NUS1	HP:0007024	Pseudobulbar paralysis
116150	NUS1	HP:0007018	Attention deficit hyperactivity disorder
116150	NUS1	HP:0011968	Feeding difficulties
116150	NUS1	HP:0002384	Focal impaired awareness seizure
116150	NUS1	HP:0002376	Developmental regression
116150	NUS1	HP:0002355	Difficulty walking
116150	NUS1	HP:0002353	EEG abnormality
116150	NUS1	HP:0002317	Unsteady gait
116150	NUS1	HP:0010844	EEG with multifocal slow activity
116150	NUS1	HP:0100660	Dyskinesia
116150	NUS1	HP:0000639	Nystagmus
116150	NUS1	HP:0000648	Optic atrophy
116150	NUS1	HP:0000668	Hypodontia
116150	NUS1	HP:0004322	Short stature
116150	NUS1	HP:0004305	Involuntary movements
116150	NUS1	HP:0000750	Delayed speech and language development
116150	NUS1	HP:0000717	Autism
116150	NUS1	HP:0000729	Autistic behavior
116150	NUS1	HP:0000708	Atypical behavior
116150	NUS1	HP:0011463	Childhood onset
116150	NUS1	HP:0011443	Abnormality of coordination
116150	NUS1	HP:0000998	Hypertrichosis
116150	NUS1	HP:0034353	Appendicular spasticity
116150	NUS1	HP:0000252	Microcephaly
116150	NUS1	HP:0001558	Decreased fetal movement
116150	NUS1	HP:0001508	Failure to thrive
116150	NUS1	HP:0001511	Intrauterine growth retardation
116150	NUS1	HP:0007843	Attenuation of retinal blood vessels
116150	NUS1	HP:0000365	Hearing impairment
116150	NUS1	HP:0000348	High forehead
116150	NUS1	HP:0032794	Myoclonic seizure
116150	NUS1	HP:0000494	Downslanted palpebral fissures
116150	NUS1	HP:0012444	Brain atrophy
116150	NUS1	HP:0012447	Abnormal myelination
116150	NUS1	HP:0000508	Ptosis
116150	NUS1	HP:0000504	Abnormality of vision
116150	NUS1	HP:0012547	Abnormal involuntary eye movements
116150	NUS1	HP:0000546	Retinal degeneration
116150	NUS1	HP:0000543	Optic disc pallor
116228	COX20	HP:0002490	Increased CSF lactate
116228	COX20	HP:0002451	Limb dystonia
116228	COX20	HP:0001252	Hypotonia
116228	COX20	HP:0001251	Ataxia
116228	COX20	HP:0001266	Choreoathetosis
116228	COX20	HP:0001260	Dysarthria
116228	COX20	HP:0000007	Autosomal recessive inheritance
116228	COX20	HP:0003390	Sensory axonal neuropathy
116228	COX20	HP:0003487	Babinski sign
116228	COX20	HP:0002151	Increased serum lactate
116228	COX20	HP:0002198	Dilated fourth ventricle
116228	COX20	HP:0008347	Decreased activity of mitochondrial complex IV
116228	COX20	HP:0002359	Frequent falls
116228	COX20	HP:0003621	Juvenile onset
116228	COX20	HP:0006855	Cerebellar vermis atrophy
116228	COX20	HP:0009027	Foot dorsiflexor weakness
116228	COX20	HP:0000750	Delayed speech and language development
116228	COX20	HP:0003236	Elevated circulating creatine kinase concentration
116228	COX20	HP:0001518	Small for gestational age
116228	COX20	HP:0000473	Torticollis
116369	SLC26A8	HP:0000006	Autosomal dominant inheritance
116369	SLC26A8	HP:0011462	Young adult onset
116369	SLC26A8	HP:0003251	Male infertility
116369	SLC26A8	HP:0012207	Reduced sperm motility
116442	RAB39B	HP:0002465	Poor speech
116442	RAB39B	HP:0001256	Intellectual disability, mild
116442	RAB39B	HP:0001250	Seizure
116442	RAB39B	HP:0001249	Intellectual disability
116442	RAB39B	HP:0001260	Dysarthria
116442	RAB39B	HP:0001263	Global developmental delay
116442	RAB39B	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
116442	RAB39B	HP:0001355	Megalencephaly
116442	RAB39B	HP:0001300	Parkinsonism
116442	RAB39B	HP:0001419	X-linked recessive inheritance
116442	RAB39B	HP:0002007	Frontal bossing
116442	RAB39B	HP:0002067	Bradykinesia
116442	RAB39B	HP:0002063	Rigidity
116442	RAB39B	HP:0002135	Basal ganglia calcification
116442	RAB39B	HP:0002167	Abnormality of speech or vocalization
116442	RAB39B	HP:0002172	Postural instability
116442	RAB39B	HP:0003596	Middle age onset
116442	RAB39B	HP:0002396	Cogwheel rigidity
116442	RAB39B	HP:0002362	Shuffling gait
116442	RAB39B	HP:0002322	Resting tremor
116442	RAB39B	HP:0100660	Dyskinesia
116442	RAB39B	HP:0004322	Short stature
116442	RAB39B	HP:0000752	Hyperactivity
116442	RAB39B	HP:0100022	Abnormality of movement
116442	RAB39B	HP:0000726	Dementia
116442	RAB39B	HP:0000729	Autistic behavior
116442	RAB39B	HP:0011462	Young adult onset
116442	RAB39B	HP:0100315	Lewy bodies
116442	RAB39B	HP:0000256	Macrocephaly
116442	RAB39B	HP:0000276	Long face
116442	RAB39B	HP:0000268	Dolichocephaly
116442	RAB39B	HP:0000486	Strabismus
116461	TSEN15	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
116461	TSEN15	HP:0010862	Delayed fine motor development
116461	TSEN15	HP:0001270	Motor delay
116461	TSEN15	HP:0001250	Seizure
116461	TSEN15	HP:0001252	Hypotonia
116461	TSEN15	HP:0001249	Intellectual disability
116461	TSEN15	HP:0001265	Hyporeflexia
116461	TSEN15	HP:0001266	Choreoathetosis
116461	TSEN15	HP:0001263	Global developmental delay
116461	TSEN15	HP:0001257	Spasticity
116461	TSEN15	HP:0002540	Inability to walk
116461	TSEN15	HP:0002536	Abnormal cortical gyration
116461	TSEN15	HP:0001347	Hyperreflexia
116461	TSEN15	HP:0031162	Impaired oropharyngeal swallow response
116461	TSEN15	HP:0033725	Thin corpus callosum
116461	TSEN15	HP:0000007	Autosomal recessive inheritance
116461	TSEN15	HP:0001320	Cerebellar vermis hypoplasia
116461	TSEN15	HP:0001321	Cerebellar hypoplasia
116461	TSEN15	HP:0007663	Reduced visual acuity
116461	TSEN15	HP:0007598	Bilateral single transverse palmar creases
116461	TSEN15	HP:0012110	Hypoplasia of the pons
116461	TSEN15	HP:0002719	Recurrent infections
116461	TSEN15	HP:0002020	Gastroesophageal reflux
116461	TSEN15	HP:0002033	Poor suck
116461	TSEN15	HP:0002079	Hypoplasia of the corpus callosum
116461	TSEN15	HP:0003487	Babinski sign
116461	TSEN15	HP:0002123	Generalized myoclonic seizure
116461	TSEN15	HP:0002120	Cerebral cortical atrophy
116461	TSEN15	HP:0002119	Ventriculomegaly
116461	TSEN15	HP:0002104	Apnea
116461	TSEN15	HP:0002194	Delayed gross motor development
116461	TSEN15	HP:0002268	Paroxysmal dystonia
116461	TSEN15	HP:0003593	Infantile onset
116461	TSEN15	HP:0003577	Congenital onset
116461	TSEN15	HP:0100704	Cerebral visual impairment
116461	TSEN15	HP:0003558	Viral infection-induced rhabdomyolysis
116461	TSEN15	HP:0200136	Oral-pharyngeal dysphagia
116461	TSEN15	HP:0011968	Feeding difficulties
116461	TSEN15	HP:0002365	Hypoplasia of the brainstem
116461	TSEN15	HP:0002360	Sleep disturbance
116461	TSEN15	HP:0002350	Cerebellar cyst
116461	TSEN15	HP:0200049	Upper limb hypertonia
116461	TSEN15	HP:0006850	Hypoplasia of the ventral pons
116461	TSEN15	HP:0006895	Lower limb hypertonia
116461	TSEN15	HP:0009062	Infantile axial hypotonia
116461	TSEN15	HP:0011344	Severe global developmental delay
116461	TSEN15	HP:0001999	Abnormal facial shape
116461	TSEN15	HP:0006989	Dysplastic corpus callosum
116461	TSEN15	HP:0000737	Irritability
116461	TSEN15	HP:0000750	Delayed speech and language development
116461	TSEN15	HP:0011471	Gastrostomy tube feeding in infancy
116461	TSEN15	HP:0012765	Widened cerebellar subarachnoid space
116461	TSEN15	HP:0034353	Appendicular spasticity
116461	TSEN15	HP:0000253	Progressive microcephaly
116461	TSEN15	HP:0000340	Sloping forehead
116461	TSEN15	HP:0011171	Simple febrile seizure
116461	TSEN15	HP:0000486	Strabismus
116461	TSEN15	HP:0012469	Infantile spasms
116461	TSEN15	HP:0012510	Extra-axial cerebrospinal fluid accumulation
116519	APOA5	HP:0000006	Autosomal dominant inheritance
116519	APOA5	HP:0003362	Increased VLDL cholesterol concentration
116519	APOA5	HP:0002155	Hypertriglyceridemia
116519	APOA5	HP:0003563	Decreased LDL cholesterol concentration
116519	APOA5	HP:0001039	Atheroeruptive xanthoma
116519	APOA5	HP:0001952	Glucose intolerance
116519	APOA5	HP:0004416	Precocious atherosclerosis
116519	APOA5	HP:0000819	Diabetes mellitus
116519	APOA5	HP:0040075	Hypopituitarism
116519	APOA5	HP:0003233	Decreased HDL cholesterol concentration
116519	APOA5	HP:0012238	Increased circulating chylomicron concentration
116931	MED12L	HP:0001290	Generalized hypotonia
116931	MED12L	HP:0100807	Long fingers
116931	MED12L	HP:0001274	Agenesis of corpus callosum
116931	MED12L	HP:0001270	Motor delay
116931	MED12L	HP:0001250	Seizure
116931	MED12L	HP:0001249	Intellectual disability
116931	MED12L	HP:0001212	Prominent fingertip pads
116931	MED12L	HP:0000047	Hypospadias
116931	MED12L	HP:0008872	Feeding difficulties in infancy
116931	MED12L	HP:0000006	Autosomal dominant inheritance
116931	MED12L	HP:0000194	Open mouth
116931	MED12L	HP:0000160	Narrow mouth
116931	MED12L	HP:0007687	Unilateral ptosis
116931	MED12L	HP:0002705	High, narrow palate
116931	MED12L	HP:0002714	Downturned corners of mouth
116931	MED12L	HP:0002020	Gastroesophageal reflux
116931	MED12L	HP:0002019	Constipation
116931	MED12L	HP:0002079	Hypoplasia of the corpus callosum
116931	MED12L	HP:0007018	Attention deficit hyperactivity disorder
116931	MED12L	HP:0002360	Sleep disturbance
116931	MED12L	HP:0000612	Iris coloboma
116931	MED12L	HP:0005619	Thoracolumbar kyphosis
116931	MED12L	HP:0012724	Upper eyelid edema
116931	MED12L	HP:0000739	Anxiety
116931	MED12L	HP:0000750	Delayed speech and language development
116931	MED12L	HP:0000718	Aggressive behavior
116931	MED12L	HP:0000729	Autistic behavior
116931	MED12L	HP:0045075	Sparse eyebrow
116931	MED12L	HP:0000219	Thin upper lip vermilion
116931	MED12L	HP:0000232	Everted lower lip vermilion
116931	MED12L	HP:0000348	High forehead
116931	MED12L	HP:0000316	Hypertelorism
116931	MED12L	HP:0000322	Short philtrum
116931	MED12L	HP:0000325	Triangular face
116931	MED12L	HP:0000307	Pointed chin
116931	MED12L	HP:0005280	Depressed nasal bridge
116931	MED12L	HP:0000486	Strabismus
116931	MED12L	HP:0000494	Downslanted palpebral fissures
116931	MED12L	HP:0000490	Deeply set eye
116931	MED12L	HP:0000463	Anteverted nares
116931	MED12L	HP:0001763	Pes planus
116931	MED12L	HP:0000414	Bulbous nose
116931	MED12L	HP:0000426	Prominent nasal bridge
116931	MED12L	HP:0000540	Hypermetropia
116931	MED12L	HP:0000545	Myopia
117144	CATSPER1	HP:0000007	Autosomal recessive inheritance
117144	CATSPER1	HP:0011462	Young adult onset
117144	CATSPER1	HP:0000798	Oligospermia
117144	CATSPER1	HP:0003251	Male infertility
117144	CATSPER1	HP:0012207	Reduced sperm motility
117144	CATSPER1	HP:0012208	Immotile sperm
117155	CATSPER2	HP:0008619	Bilateral sensorineural hearing impairment
117155	CATSPER2	HP:0008669	Abnormal spermatogenesis
117155	CATSPER2	HP:0000027	Azoospermia
117155	CATSPER2	HP:0000007	Autosomal recessive inheritance
117155	CATSPER2	HP:0003577	Congenital onset
117155	CATSPER2	HP:0011462	Young adult onset
117155	CATSPER2	HP:0000798	Oligospermia
117155	CATSPER2	HP:0012868	Abnormal sperm tail morphology
117155	CATSPER2	HP:0012865	Abnormal sperm head morphology
117155	CATSPER2	HP:0003251	Male infertility
117155	CATSPER2	HP:0012207	Reduced sperm motility
117155	CATSPER2	HP:0012208	Immotile sperm
117155	CATSPER2	HP:0000407	Sensorineural hearing impairment
117155	CATSPER2	HP:0001751	Abnormal vestibular function
117156	SCGB3A2	HP:0000006	Autosomal dominant inheritance
117156	SCGB3A2	HP:0001426	Multifactorial inheritance
117156	SCGB3A2	HP:0002099	Asthma
117156	SCGB3A2	HP:4000007	Bronchoconstriction
117156	SCGB3A2	HP:0032933	Airway hyperresponsiveness
117531	TMC1	HP:0000007	Autosomal recessive inheritance
117531	TMC1	HP:0000006	Autosomal dominant inheritance
117531	TMC1	HP:0003577	Congenital onset
117531	TMC1	HP:0003621	Juvenile onset
117531	TMC1	HP:0000360	Tinnitus
117531	TMC1	HP:0000407	Sensorineural hearing impairment
117531	TMC1	HP:0001751	Abnormal vestibular function
117581	TWIST2	HP:0001156	Brachydactyly
117581	TWIST2	HP:0001126	Cryptophthalmos
117581	TWIST2	HP:0010935	Abnormality of the upper urinary tract
117581	TWIST2	HP:0001195	Single umbilical artery
117581	TWIST2	HP:0008551	Microtia
117581	TWIST2	HP:0001249	Intellectual disability
117581	TWIST2	HP:0001263	Global developmental delay
117581	TWIST2	HP:0002561	Absent nipple
117581	TWIST2	HP:0002557	Hypoplastic nipples
117581	TWIST2	HP:0100840	Aplasia/Hypoplasia of the eyebrow
117581	TWIST2	HP:0008736	Hypoplasia of penis
117581	TWIST2	HP:0007392	Excessive wrinkled skin
117581	TWIST2	HP:0002553	Highly arched eyebrow
117581	TWIST2	HP:0000062	Ambiguous genitalia
117581	TWIST2	HP:0000064	Hypoplastic labia minora
117581	TWIST2	HP:0000059	Hypoplastic labia majora
117581	TWIST2	HP:0000055	Abnormality of female external genitalia
117581	TWIST2	HP:0000054	Micropenis
117581	TWIST2	HP:0000049	Shawl scrotum
117581	TWIST2	HP:0000028	Cryptorchidism
117581	TWIST2	HP:0007565	Multiple cafe-au-lait spots
117581	TWIST2	HP:0007495	Prematurely aged appearance
117581	TWIST2	HP:0000007	Autosomal recessive inheritance
117581	TWIST2	HP:0000006	Autosomal dominant inheritance
117581	TWIST2	HP:0000188	Short upper lip
117581	TWIST2	HP:0000154	Wide mouth
117581	TWIST2	HP:0007646	Absent lower eyelashes
117581	TWIST2	HP:0002714	Downturned corners of mouth
117581	TWIST2	HP:0002023	Anal atresia
117581	TWIST2	HP:0100490	Camptodactyly of finger
117581	TWIST2	HP:0010554	Cutaneous finger syndactyly
117581	TWIST2	HP:0011823	Chin with horizontal crease
117581	TWIST2	HP:0003577	Congenital onset
117581	TWIST2	HP:0002223	Absent eyebrow
117581	TWIST2	HP:0200102	Sparse or absent eyelashes
117581	TWIST2	HP:0002230	Generalized hirsutism
117581	TWIST2	HP:0002213	Fine hair
117581	TWIST2	HP:0010720	Abnormal hair pattern
117581	TWIST2	HP:0009743	Distichiasis
117581	TWIST2	HP:0100783	Breast aplasia
117581	TWIST2	HP:0100781	Abnormal sacroiliac joint morphology
117581	TWIST2	HP:0010669	Hypoplasia of the zygomatic bone
117581	TWIST2	HP:0010648	Dermal translucency
117581	TWIST2	HP:0430009	Hypoplasia of eyelid
117581	TWIST2	HP:0001053	Hypopigmented skin patches
117581	TWIST2	HP:0001000	Abnormality of skin pigmentation
117581	TWIST2	HP:0200020	Corneal erosion
117581	TWIST2	HP:0008509	Aged leonine appearance
117581	TWIST2	HP:0100678	Premature skin wrinkling
117581	TWIST2	HP:0010751	Dimple chin
117581	TWIST2	HP:0004209	Clinodactyly of the 5th finger
117581	TWIST2	HP:0000632	Lacrimation abnormality
117581	TWIST2	HP:0000629	Periorbital fullness
117581	TWIST2	HP:0010049	Short metacarpal
117581	TWIST2	HP:0000684	Delayed eruption of teeth
117581	TWIST2	HP:0011336	Bitemporal forceps marks
117581	TWIST2	HP:0000691	Microdontia
117581	TWIST2	HP:0000689	Dental malocclusion
117581	TWIST2	HP:0000687	Widely spaced teeth
117581	TWIST2	HP:0000656	Ectropion
117581	TWIST2	HP:0000653	Sparse eyelashes
117581	TWIST2	HP:0000668	Hypodontia
117581	TWIST2	HP:0004334	Dermal atrophy
117581	TWIST2	HP:0400002	Extra concha fold
117581	TWIST2	HP:0000750	Delayed speech and language development
117581	TWIST2	HP:0011461	Fetal onset
117581	TWIST2	HP:0009125	Lipodystrophy
117581	TWIST2	HP:0034260	Aplastic zygomatic arch
117581	TWIST2	HP:0034262	Absent lanugo
117581	TWIST2	HP:0003187	Breast hypoplasia
117581	TWIST2	HP:0003186	Inverted nipples
117581	TWIST2	HP:0045075	Sparse eyebrow
117581	TWIST2	HP:0000998	Hypertrichosis
117581	TWIST2	HP:0000974	Hyperextensible skin
117581	TWIST2	HP:0000958	Dry skin
117581	TWIST2	HP:0000963	Thin skin
117581	TWIST2	HP:0008070	Sparse hair
117581	TWIST2	HP:0008065	Aplasia/Hypoplasia of the skin
117581	TWIST2	HP:0000286	Epicanthus
117581	TWIST2	HP:0000294	Low anterior hairline
117581	TWIST2	HP:0000271	Abnormality of the face
117581	TWIST2	HP:0007776	Sparse lower eyelashes
117581	TWIST2	HP:0005105	Abnormal nasal morphology
117581	TWIST2	HP:0001582	Redundant skin
117581	TWIST2	HP:0000220	Velopharyngeal insufficiency
117581	TWIST2	HP:0000218	High palate
117581	TWIST2	HP:0000212	Gingival overgrowth
117581	TWIST2	HP:0000215	Thick upper lip vermilion
117581	TWIST2	HP:0001545	Anteriorly placed anus
117581	TWIST2	HP:0000233	Thin vermilion border
117581	TWIST2	HP:0001537	Umbilical hernia
117581	TWIST2	HP:0001539	Omphalocele
117581	TWIST2	HP:0001508	Failure to thrive
117581	TWIST2	HP:0001510	Growth delay
117581	TWIST2	HP:0012385	Camptodactyly
117581	TWIST2	HP:0000377	Abnormal pinna morphology
117581	TWIST2	HP:0002933	Ventral hernia
117581	TWIST2	HP:0000365	Hearing impairment
117581	TWIST2	HP:0000369	Low-set ears
117581	TWIST2	HP:0000347	Micrognathia
117581	TWIST2	HP:0000316	Hypertelorism
117581	TWIST2	HP:0000327	Hypoplasia of the maxilla
117581	TWIST2	HP:0000322	Short philtrum
117581	TWIST2	HP:0000303	Mandibular prognathia
117581	TWIST2	HP:0007957	Corneal opacity
117581	TWIST2	HP:0005338	Sparse lateral eyebrow
117581	TWIST2	HP:0000402	Stenosis of the external auditory canal
117581	TWIST2	HP:0005280	Depressed nasal bridge
117581	TWIST2	HP:0000486	Strabismus
117581	TWIST2	HP:0000494	Downslanted palpebral fissures
117581	TWIST2	HP:0000463	Anteverted nares
117581	TWIST2	HP:0000457	Depressed nasal ridge
117581	TWIST2	HP:0001770	Toe syndactyly
117581	TWIST2	HP:0000445	Wide nose
117581	TWIST2	HP:0000414	Bulbous nose
117581	TWIST2	HP:0000413	Atresia of the external auditory canal
117581	TWIST2	HP:0001762	Talipes equinovarus
117581	TWIST2	HP:0000431	Wide nasal bridge
117581	TWIST2	HP:0000430	Underdeveloped nasal alae
117581	TWIST2	HP:0006709	Aplasia/Hypoplasia of the nipples
117581	TWIST2	HP:0011298	Prominent digit pad
117581	TWIST2	HP:0011267	Microtia, third degree
117581	TWIST2	HP:0000506	Telecanthus
117581	TWIST2	HP:0000505	Visual impairment
117581	TWIST2	HP:0001804	Hypoplastic fingernail
117581	TWIST2	HP:0011266	Microtia, first degree
117581	TWIST2	HP:0011225	Epiblepharon
117581	TWIST2	HP:0011224	Ablepharon
117581	TWIST2	HP:0000561	Absent eyelashes
117581	TWIST2	HP:0000545	Myopia
118429	ANTXR2	HP:0001156	Brachydactyly
118429	ANTXR2	HP:0001252	Hypotonia
118429	ANTXR2	HP:0001249	Intellectual disability
118429	ANTXR2	HP:0002570	Steatorrhea
118429	ANTXR2	HP:0001371	Flexion contracture
118429	ANTXR2	HP:0001387	Joint stiffness
118429	ANTXR2	HP:0002659	Increased susceptibility to fractures
118429	ANTXR2	HP:0000007	Autosomal recessive inheritance
118429	ANTXR2	HP:0000169	Gingival fibromatosis
118429	ANTXR2	HP:0002797	Osteolysis
118429	ANTXR2	HP:0001482	Subcutaneous nodule
118429	ANTXR2	HP:0000147	Polycystic ovaries
118429	ANTXR2	HP:0002757	Recurrent fractures
118429	ANTXR2	HP:0002749	Osteomalacia
118429	ANTXR2	HP:0002719	Recurrent infections
118429	ANTXR2	HP:0002718	Recurrent bacterial infections
118429	ANTXR2	HP:0002721	Immunodeficiency
118429	ANTXR2	HP:0002024	Malabsorption
118429	ANTXR2	HP:0002028	Chronic diarrhea
118429	ANTXR2	HP:0002014	Diarrhea
118429	ANTXR2	HP:0100585	Telangiectasia of the skin
118429	ANTXR2	HP:0100490	Camptodactyly of finger
118429	ANTXR2	HP:0010515	Aplasia/Hypoplasia of the thymus
118429	ANTXR2	HP:0003593	Infantile onset
118429	ANTXR2	HP:0011968	Feeding difficulties
118429	ANTXR2	HP:0003510	Severe short stature
118429	ANTXR2	HP:0003676	Progressive
118429	ANTXR2	HP:0001004	Lymphedema
118429	ANTXR2	HP:0001025	Urticaria
118429	ANTXR2	HP:0200034	Papule
118429	ANTXR2	HP:0001072	Thickened skin
118429	ANTXR2	HP:0200042	Skin ulcer
118429	ANTXR2	HP:0004279	Short palm
118429	ANTXR2	HP:0003011	Abnormality of the musculature
118429	ANTXR2	HP:0011463	Childhood onset
118429	ANTXR2	HP:0000929	Abnormal skull morphology
118429	ANTXR2	HP:0000834	Abnormality of the adrenal glands
118429	ANTXR2	HP:0005876	Progressive flexion contractures
118429	ANTXR2	HP:0003202	Skeletal muscle atrophy
118429	ANTXR2	HP:0000953	Hyperpigmentation of the skin
118429	ANTXR2	HP:0000939	Osteoporosis
118429	ANTXR2	HP:0000938	Osteopenia
118429	ANTXR2	HP:0000940	Abnormal diaphysis morphology
118429	ANTXR2	HP:0008065	Aplasia/Hypoplasia of the skin
118429	ANTXR2	HP:0000280	Coarse facial features
118429	ANTXR2	HP:0001595	Abnormal hair morphology
118429	ANTXR2	HP:0000256	Macrocephaly
118429	ANTXR2	HP:0000275	Narrow face
118429	ANTXR2	HP:0000271	Abnormality of the face
118429	ANTXR2	HP:0002829	Arthralgia
118429	ANTXR2	HP:0000212	Gingival overgrowth
118429	ANTXR2	HP:0001522	Death in infancy
118429	ANTXR2	HP:0001508	Failure to thrive
118429	ANTXR2	HP:0001510	Growth delay
118429	ANTXR2	HP:0006482	Abnormality of dental morphology
118429	ANTXR2	HP:0011024	Abnormality of the gastrointestinal tract
118429	ANTXR2	HP:0000369	Low-set ears
118429	ANTXR2	HP:0002983	Micromelia
118429	ANTXR2	HP:0000470	Short neck
118491	CFAP70	HP:0000007	Autosomal recessive inheritance
118491	CFAP70	HP:0032559	Short sperm flagella
118491	CFAP70	HP:0032562	Tapered sperm head
118491	CFAP70	HP:0000798	Oligospermia
118491	CFAP70	HP:0003251	Male infertility
118491	CFAP70	HP:0012208	Immotile sperm
118813	ZFYVE27	HP:0001258	Spastic paraplegia
118813	ZFYVE27	HP:0007340	Lower limb muscle weakness
118813	ZFYVE27	HP:0001347	Hyperreflexia
118813	ZFYVE27	HP:0000006	Autosomal dominant inheritance
118813	ZFYVE27	HP:0002064	Spastic gait
118813	ZFYVE27	HP:0002061	Lower limb spasticity
118813	ZFYVE27	HP:0003487	Babinski sign
118813	ZFYVE27	HP:0011448	Ankle clonus
118813	ZFYVE27	HP:0001762	Talipes equinovarus
118856	MMP21	HP:0002566	Intestinal malrotation
118856	MMP21	HP:0012020	Right aortic arch
118856	MMP21	HP:0000007	Autosomal recessive inheritance
118856	MMP21	HP:0004762	Hypoplasia of right ventricle
118856	MMP21	HP:0004971	Pulmonary artery hypoplasia
118856	MMP21	HP:0004935	Pulmonary artery atresia
118856	MMP21	HP:0011565	Common atrium
118856	MMP21	HP:0011560	Mitral atresia
118856	MMP21	HP:0030853	Heterotaxy
118856	MMP21	HP:0011611	Interrupted aortic arch
118856	MMP21	HP:0000961	Cyanosis
118856	MMP21	HP:0011671	Interrupted inferior vena cava with azygous continuation
118856	MMP21	HP:0005160	Total anomalous pulmonary venous return
118856	MMP21	HP:0001696	Situs inversus totalis
118856	MMP21	HP:0001671	Abnormal cardiac septum morphology
118856	MMP21	HP:0001669	Transposition of the great arteries
118856	MMP21	HP:0001651	Dextrocardia
118856	MMP21	HP:0001646	Abnormal aortic valve morphology
118856	MMP21	HP:0001631	Atrial septal defect
118856	MMP21	HP:0006695	Atrioventricular canal defect
118856	MMP21	HP:0001702	Abnormal tricuspid valve morphology
118856	MMP21	HP:0001748	Polysplenia
118924	FRA10AC1	HP:0001274	Agenesis of corpus callosum
118924	FRA10AC1	HP:0001270	Motor delay
118924	FRA10AC1	HP:0001250	Seizure
118924	FRA10AC1	HP:0001252	Hypotonia
118924	FRA10AC1	HP:0001249	Intellectual disability
118924	FRA10AC1	HP:0007413	Nevus flammeus of the forehead
118924	FRA10AC1	HP:0008897	Postnatal growth retardation
118924	FRA10AC1	HP:0001344	Absent speech
118924	FRA10AC1	HP:0001338	Partial agenesis of the corpus callosum
118924	FRA10AC1	HP:0000007	Autosomal recessive inheritance
118924	FRA10AC1	HP:0002079	Hypoplasia of the corpus callosum
118924	FRA10AC1	HP:0009487	Ulnar deviation of the hand
118924	FRA10AC1	HP:0009623	Proximal placement of thumb
118924	FRA10AC1	HP:0011918	Clinodactyly of the 4th toe
118924	FRA10AC1	HP:0011968	Feeding difficulties
118924	FRA10AC1	HP:0002360	Sleep disturbance
118924	FRA10AC1	HP:0010747	Medial flaring of the eyebrow
118924	FRA10AC1	HP:0004935	Pulmonary artery atresia
118924	FRA10AC1	HP:0004209	Clinodactyly of the 5th finger
118924	FRA10AC1	HP:0000664	Synophrys
118924	FRA10AC1	HP:0004322	Short stature
118924	FRA10AC1	HP:0000750	Delayed speech and language development
118924	FRA10AC1	HP:0000729	Autistic behavior
118924	FRA10AC1	HP:0003189	Long nose
118924	FRA10AC1	HP:0000879	Short sternum
118924	FRA10AC1	HP:0000998	Hypertrichosis
118924	FRA10AC1	HP:0045025	Narrow palpebral fissure
118924	FRA10AC1	HP:0000278	Retrognathia
118924	FRA10AC1	HP:0000276	Long face
118924	FRA10AC1	HP:0000218	High palate
118924	FRA10AC1	HP:0001562	Oligohydramnios
118924	FRA10AC1	HP:0030048	Colpocephaly
118924	FRA10AC1	HP:0001511	Intrauterine growth retardation
118924	FRA10AC1	HP:0000358	Posteriorly rotated ears
118924	FRA10AC1	HP:0000369	Low-set ears
118924	FRA10AC1	HP:0000341	Narrow forehead
118924	FRA10AC1	HP:0000348	High forehead
118924	FRA10AC1	HP:0000319	Smooth philtrum
118924	FRA10AC1	HP:0000316	Hypertelorism
118924	FRA10AC1	HP:0001643	Patent ductus arteriosus
118924	FRA10AC1	HP:0000325	Triangular face
118924	FRA10AC1	HP:0001655	Patent foramen ovale
118924	FRA10AC1	HP:0001629	Ventricular septal defect
118924	FRA10AC1	HP:0000307	Pointed chin
118924	FRA10AC1	HP:0012471	Thick vermilion border
118924	FRA10AC1	HP:0000414	Bulbous nose
118924	FRA10AC1	HP:0005484	Secondary microcephaly
118924	FRA10AC1	HP:0011229	Broad eyebrow
118924	FRA10AC1	HP:0001864	Clinodactyly of the 5th toe
118987	PDZD8	HP:0001250	Seizure
118987	PDZD8	HP:0001249	Intellectual disability
118987	PDZD8	HP:0001263	Global developmental delay
118987	PDZD8	HP:0000007	Autosomal recessive inheritance
118987	PDZD8	HP:0002650	Scoliosis
118987	PDZD8	HP:0000194	Open mouth
118987	PDZD8	HP:0001488	Bilateral ptosis
118987	PDZD8	HP:0000175	Cleft palate
118987	PDZD8	HP:0010529	Echolalia
118987	PDZD8	HP:0003593	Infantile onset
118987	PDZD8	HP:0007018	Attention deficit hyperactivity disorder
118987	PDZD8	HP:0000646	Amblyopia
118987	PDZD8	HP:0100023	Recurrent hand flapping
118987	PDZD8	HP:0000729	Autistic behavior
118987	PDZD8	HP:0000272	Malar flattening
118987	PDZD8	HP:0000218	High palate
118987	PDZD8	HP:0000369	Low-set ears
118987	PDZD8	HP:0000316	Hypertelorism
118987	PDZD8	HP:0000483	Astigmatism
118987	PDZD8	HP:0001845	Overlapping toe
118987	PDZD8	HP:0000545	Myopia
119559	SFXN4	HP:0010862	Delayed fine motor development
119559	SFXN4	HP:0001256	Intellectual disability, mild
119559	SFXN4	HP:0001252	Hypotonia
119559	SFXN4	HP:0000007	Autosomal recessive inheritance
119559	SFXN4	HP:0001337	Tremor
119559	SFXN4	HP:0001310	Dysmetria
119559	SFXN4	HP:0012120	Methylmalonic aciduria
119559	SFXN4	HP:0002151	Increased serum lactate
119559	SFXN4	HP:0011923	Decreased activity of mitochondrial complex I
119559	SFXN4	HP:0003577	Congenital onset
119559	SFXN4	HP:0004821	Hypersegmentation of neutrophil nuclei
119559	SFXN4	HP:0001972	Macrocytic anemia
119559	SFXN4	HP:0009046	Difficulty running
119559	SFXN4	HP:0000750	Delayed speech and language development
119559	SFXN4	HP:0003128	Lactic acidosis
119559	SFXN4	HP:0040014	Increased mitochondrial number
119559	SFXN4	HP:0003202	Skeletal muscle atrophy
119559	SFXN4	HP:0001562	Oligohydramnios
119559	SFXN4	HP:0001511	Intrauterine growth retardation
119559	SFXN4	HP:0000505	Visual impairment
120227	CYP2R1	HP:0001290	Generalized hypotonia
120227	CYP2R1	HP:0001270	Motor delay
120227	CYP2R1	HP:0001281	Tetany
120227	CYP2R1	HP:0001252	Hypotonia
120227	CYP2R1	HP:0012052	Low serum calcitriol
120227	CYP2R1	HP:0012053	Decreased circulating calcifediol concentration
120227	CYP2R1	HP:0008897	Postnatal growth retardation
120227	CYP2R1	HP:0002663	Delayed epiphyseal ossification
120227	CYP2R1	HP:0002659	Increased susceptibility to fractures
120227	CYP2R1	HP:0001324	Muscle weakness
120227	CYP2R1	HP:0000007	Autosomal recessive inheritance
120227	CYP2R1	HP:0002653	Bone pain
120227	CYP2R1	HP:0006297	Enamel hypoplasia
120227	CYP2R1	HP:0002757	Recurrent fractures
120227	CYP2R1	HP:0002753	Thin bony cortex
120227	CYP2R1	HP:0002752	Sparse bone trabeculae
120227	CYP2R1	HP:0002748	Rickets
120227	CYP2R1	HP:0002749	Osteomalacia
120227	CYP2R1	HP:0002007	Frontal bossing
120227	CYP2R1	HP:0002148	Hypophosphatemia
120227	CYP2R1	HP:0002199	Hypocalcemic seizures
120227	CYP2R1	HP:0010537	Wide cranial sutures
120227	CYP2R1	HP:0010502	Fibular bowing
120227	CYP2R1	HP:0003593	Infantile onset
120227	CYP2R1	HP:0010639	Elevated alkaline phosphatase of bone origin
120227	CYP2R1	HP:0003698	Difficulty standing
120227	CYP2R1	HP:0002355	Difficulty walking
120227	CYP2R1	HP:0000684	Delayed eruption of teeth
120227	CYP2R1	HP:0004322	Short stature
120227	CYP2R1	HP:0003029	Enlargement of the ankles
120227	CYP2R1	HP:0003013	Bulging epiphyses
120227	CYP2R1	HP:0003025	Metaphyseal irregularity
120227	CYP2R1	HP:0003020	Enlargement of the wrists
120227	CYP2R1	HP:0000737	Irritability
120227	CYP2R1	HP:0011463	Childhood onset
120227	CYP2R1	HP:0003106	Subperiosteal bone resorption
120227	CYP2R1	HP:0000920	Enlargement of the costochondral junction
120227	CYP2R1	HP:0003155	Elevated circulating alkaline phosphatase concentration
120227	CYP2R1	HP:0003165	Elevated circulating parathyroid hormone level
120227	CYP2R1	HP:0004492	Widely patent fontanelles and sutures
120227	CYP2R1	HP:0000893	Bulging of the costochondral junction
120227	CYP2R1	HP:0000886	Deformed rib cage
120227	CYP2R1	HP:0000867	Secondary hyperparathyroidism
120227	CYP2R1	HP:0000897	Rachitic rosary
120227	CYP2R1	HP:0005042	Irregular, rachitic-like metaphyses
120227	CYP2R1	HP:0001538	Protuberant abdomen
120227	CYP2R1	HP:0001508	Failure to thrive
120227	CYP2R1	HP:0001510	Growth delay
120227	CYP2R1	HP:0002909	Generalized aminoaciduria
120227	CYP2R1	HP:0002901	Hypocalcemia
120227	CYP2R1	HP:0002982	Tibial bowing
120227	CYP2R1	HP:0002980	Femoral bowing
120227	CYP2R1	HP:0002979	Bowing of the legs
120227	CYP2R1	HP:0002970	Genu varum
120227	CYP2R1	HP:0005469	Flat occiput
120892	LRRK2	HP:0025269	Panic attack
120892	LRRK2	HP:0001268	Mental deterioration
120892	LRRK2	HP:0002578	Gastroparesis
120892	LRRK2	HP:0001257	Spasticity
120892	LRRK2	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
120892	LRRK2	HP:0003829	Typified by incomplete penetrance
120892	LRRK2	HP:0001347	Hyperreflexia
120892	LRRK2	HP:0001332	Dystonia
120892	LRRK2	HP:0001337	Tremor
120892	LRRK2	HP:0000006	Autosomal dominant inheritance
120892	LRRK2	HP:0001300	Parkinsonism
120892	LRRK2	HP:0002018	Nausea
120892	LRRK2	HP:0002019	Constipation
120892	LRRK2	HP:0040307	Male sexual dysfunction
120892	LRRK2	HP:0002014	Diarrhea
120892	LRRK2	HP:0002015	Dysphagia
120892	LRRK2	HP:0100543	Cognitive impairment
120892	LRRK2	HP:0002067	Bradykinesia
120892	LRRK2	HP:0003394	Muscle spasm
120892	LRRK2	HP:0002063	Rigidity
120892	LRRK2	HP:0002141	Gait imbalance
120892	LRRK2	HP:0002120	Cerebral cortical atrophy
120892	LRRK2	HP:0002171	Gliosis
120892	LRRK2	HP:0002172	Postural instability
120892	LRRK2	HP:0003584	Late onset
120892	LRRK2	HP:0100710	Impulsivity
120892	LRRK2	HP:0100785	Insomnia
120892	LRRK2	HP:0100753	Schizophrenia
120892	LRRK2	HP:0011960	Substantia nigra gliosis
120892	LRRK2	HP:0002367	Visual hallucinations
120892	LRRK2	HP:0002362	Shuffling gait
120892	LRRK2	HP:0002360	Sleep disturbance
120892	LRRK2	HP:0002359	Frequent falls
120892	LRRK2	HP:0003677	Slowly progressive
120892	LRRK2	HP:0002322	Resting tremor
120892	LRRK2	HP:0100660	Dyskinesia
120892	LRRK2	HP:0002304	Akinesia
120892	LRRK2	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
120892	LRRK2	HP:0000651	Diplopia
120892	LRRK2	HP:0000738	Hallucinations
120892	LRRK2	HP:0000739	Anxiety
120892	LRRK2	HP:0000736	Short attention span
120892	LRRK2	HP:0000735	Impaired social interactions
120892	LRRK2	HP:0000744	Low frustration tolerance
120892	LRRK2	HP:0000741	Apathy
120892	LRRK2	HP:0000716	Depression
120892	LRRK2	HP:0000713	Agitation
120892	LRRK2	HP:0000727	Frontal lobe dementia
120892	LRRK2	HP:0000726	Dementia
120892	LRRK2	HP:0004409	Hyposmia
120892	LRRK2	HP:0100315	Lewy bodies
120892	LRRK2	HP:0030014	Female sexual dysfunction
120892	LRRK2	HP:0031435	Monotonic speech
120892	LRRK2	HP:0012332	Abnormal autonomic nervous system physiology
120892	LRRK2	HP:0000338	Hypomimic face
120892	LRRK2	HP:0005340	Spastic/hyperactive bladder
120892	LRRK2	HP:0012452	Restless legs
120892	LRRK2	HP:0012450	Chronic constipation
120892	LRRK2	HP:0001824	Weight loss
120892	LRRK2	HP:0000551	Color vision defect
121214	SDR9C7	HP:0025114	Hypergranulosis
121214	SDR9C7	HP:0100806	Sepsis
121214	SDR9C7	HP:0100840	Aplasia/Hypoplasia of the eyebrow
121214	SDR9C7	HP:0000083	Renal insufficiency
121214	SDR9C7	HP:0000007	Autosomal recessive inheritance
121214	SDR9C7	HP:0000164	Abnormality of the dentition
121214	SDR9C7	HP:0100543	Cognitive impairment
121214	SDR9C7	HP:0003577	Congenital onset
121214	SDR9C7	HP:0002205	Recurrent respiratory infections
121214	SDR9C7	HP:0100758	Gangrene
121214	SDR9C7	HP:0001019	Erythroderma
121214	SDR9C7	HP:0100679	Lack of skin elasticity
121214	SDR9C7	HP:0001944	Dehydration
121214	SDR9C7	HP:0000656	Ectropion
121214	SDR9C7	HP:0004322	Short stature
121214	SDR9C7	HP:0000972	Palmoplantar hyperkeratosis
121214	SDR9C7	HP:0000989	Pruritus
121214	SDR9C7	HP:0000958	Dry skin
121214	SDR9C7	HP:0000962	Hyperkeratosis
121214	SDR9C7	HP:0008070	Sparse hair
121214	SDR9C7	HP:0008064	Ichthyosis
121214	SDR9C7	HP:0001597	Abnormality of the nail
121214	SDR9C7	HP:0012203	Onychomycosis
121214	SDR9C7	HP:0000232	Everted lower lip vermilion
121214	SDR9C7	HP:0011039	Abnormal helix morphology
121214	SDR9C7	HP:0000389	Chronic otitis media
121278	TPH2	HP:0001263	Global developmental delay
121278	TPH2	HP:0010982	Polygenic inheritance
121278	TPH2	HP:0000006	Autosomal dominant inheritance
121278	TPH2	HP:0007018	Attention deficit hyperactivity disorder
121278	TPH2	HP:0000716	Depression
121340	SP7	HP:0001187	Hyperextensibility of the finger joints
121340	SP7	HP:0001270	Motor delay
121340	SP7	HP:0000007	Autosomal recessive inheritance
121340	SP7	HP:0002650	Scoliosis
121340	SP7	HP:0002645	Wormian bones
121340	SP7	HP:0000160	Narrow mouth
121340	SP7	HP:0002757	Recurrent fractures
121340	SP7	HP:0011800	Midface retrusion
121340	SP7	HP:0003593	Infantile onset
121340	SP7	HP:0000684	Delayed eruption of teeth
121340	SP7	HP:0004322	Short stature
121340	SP7	HP:0030680	Abnormality of cardiovascular system morphology
121340	SP7	HP:0000768	Pectus carinatum
121340	SP7	HP:0000703	Dentinogenesis imperfecta
121340	SP7	HP:0000939	Osteoporosis
121340	SP7	HP:0040160	Generalized osteoporosis
121340	SP7	HP:0000272	Malar flattening
121340	SP7	HP:0000244	Brachyturricephaly
121340	SP7	HP:0000218	High palate
121340	SP7	HP:0006488	Bowing of the arm
121340	SP7	HP:0000364	Hearing abnormality
121340	SP7	HP:0000336	Prominent supraorbital ridges
121340	SP7	HP:0000347	Micrognathia
121340	SP7	HP:0002979	Bowing of the legs
121340	SP7	HP:0000324	Facial asymmetry
121340	SP7	HP:0001730	Progressive hearing impairment
121340	SP7	HP:0005280	Depressed nasal bridge
121340	SP7	HP:0000591	Abnormal sclera morphology
121340	SP7	HP:0011220	Prominent forehead
121391	KRT74	HP:0007436	Hair-nail ectodermal dysplasia
121391	KRT74	HP:0002550	Absent facial hair
121391	KRT74	HP:0007550	Hypohidrosis or hyperhidrosis
121391	KRT74	HP:0000007	Autosomal recessive inheritance
121391	KRT74	HP:0000006	Autosomal dominant inheritance
121391	KRT74	HP:0000164	Abnormality of the dentition
121391	KRT74	HP:0003577	Congenital onset
121391	KRT74	HP:0002224	Woolly hair
121391	KRT74	HP:0002217	Slow-growing hair
121391	KRT74	HP:0002231	Sparse body hair
121391	KRT74	HP:0002213	Fine hair
121391	KRT74	HP:0002209	Sparse scalp hair
121391	KRT74	HP:0002208	Coarse hair
121391	KRT74	HP:0010719	Abnormality of hair texture
121391	KRT74	HP:0002299	Brittle hair
121391	KRT74	HP:0002293	Alopecia of scalp
121391	KRT74	HP:0008391	Dystrophic fingernails
121391	KRT74	HP:0001036	Parakeratosis
121391	KRT74	HP:0001047	Atopic dermatitis
121391	KRT74	HP:0025092	Epidermal acanthosis
121391	KRT74	HP:0032152	Keratosis pilaris
121391	KRT74	HP:0005599	Hypopigmentation of hair
121391	KRT74	HP:0100134	Abnormality of the axillary hair
121391	KRT74	HP:0100133	Abnormality of the pubic hair
121391	KRT74	HP:0000615	Abnormal pupil morphology
121391	KRT74	HP:0011359	Dry hair
121391	KRT74	HP:0000653	Sparse eyelashes
121391	KRT74	HP:0100038	Slow-growing scalp hair
121391	KRT74	HP:0011463	Childhood onset
121391	KRT74	HP:0003193	Allergic rhinitis
121391	KRT74	HP:0003212	Increased circulating IgE level
121391	KRT74	HP:0004528	Generalized hypotrichosis
121391	KRT74	HP:0045075	Sparse eyebrow
121391	KRT74	HP:0000972	Palmoplantar hyperkeratosis
121391	KRT74	HP:0000971	Abnormal sweat gland morphology
121391	KRT74	HP:0000989	Pruritus
121391	KRT74	HP:0000951	Abnormality of the skin
121391	KRT74	HP:0000962	Hyperkeratosis
121391	KRT74	HP:0040189	Scaling skin
121391	KRT74	HP:0001597	Abnormality of the nail
121391	KRT74	HP:0001596	Alopecia
121391	KRT74	HP:0000499	Abnormal eyelash morphology
121391	KRT74	HP:0005338	Sparse lateral eyebrow
121391	KRT74	HP:0000486	Strabismus
121391	KRT74	HP:0000479	Abnormal retinal morphology
121391	KRT74	HP:0000518	Cataract
121391	KRT74	HP:0001806	Onycholysis
121391	KRT74	HP:0001810	Dystrophic toenail
121391	KRT74	HP:0000534	Abnormal eyebrow morphology
121512	FGD4	HP:0001270	Motor delay
121512	FGD4	HP:0001284	Areflexia
121512	FGD4	HP:0001265	Hyporeflexia
121512	FGD4	HP:0001245	Small thenar eminence
121512	FGD4	HP:0002515	Waddling gait
121512	FGD4	HP:0000007	Autosomal recessive inheritance
121512	FGD4	HP:0033748	Hypoesthesia
121512	FGD4	HP:0002650	Scoliosis
121512	FGD4	HP:0008944	Distal lower limb amyotrophy
121512	FGD4	HP:0003383	Onion bulb formation
121512	FGD4	HP:0003380	Decreased number of peripheral myelinated nerve fibers
121512	FGD4	HP:0010487	Small hypothenar eminence
121512	FGD4	HP:0003484	Upper limb muscle weakness
121512	FGD4	HP:0003431	Decreased motor nerve conduction velocity
121512	FGD4	HP:0002317	Unsteady gait
121512	FGD4	HP:0007182	Peripheral hypomyelination
121512	FGD4	HP:0009053	Distal lower limb muscle weakness
121512	FGD4	HP:0011463	Childhood onset
121512	FGD4	HP:0002936	Distal sensory impairment
121512	FGD4	HP:0001762	Talipes equinovarus
121512	FGD4	HP:0001761	Pes cavus
122402	TDRD9	HP:0008734	Decreased testicular size
122402	TDRD9	HP:0031038	Spermatogenesis maturation arrest
122402	TDRD9	HP:0008669	Abnormal spermatogenesis
122402	TDRD9	HP:0000028	Cryptorchidism
122402	TDRD9	HP:0000027	Azoospermia
122402	TDRD9	HP:0000007	Autosomal recessive inheritance
122402	TDRD9	HP:0000118	Phenotypic abnormality
122402	TDRD9	HP:0030974	Cryptozoospermia
122402	TDRD9	HP:0011961	Non-obstructive azoospermia
122402	TDRD9	HP:0011962	Obstructive azoospermia
122402	TDRD9	HP:0011462	Young adult onset
122402	TDRD9	HP:0000837	Increased circulating gonadotropin level
122402	TDRD9	HP:0003251	Male infertility
122481	AK7	HP:0033525	Absent sperm axoneme central pair complex
122481	AK7	HP:0000007	Autosomal recessive inheritance
122481	AK7	HP:0032558	Absent sperm flagella
122481	AK7	HP:0032559	Short sperm flagella
122481	AK7	HP:0032560	Coiled sperm flagella
122481	AK7	HP:0011462	Young adult onset
122481	AK7	HP:0003251	Male infertility
122481	AK7	HP:0012207	Reduced sperm motility
122553	TRAPPC6B	HP:0010862	Delayed fine motor development
122553	TRAPPC6B	HP:0010864	Intellectual disability, severe
122553	TRAPPC6B	HP:0001272	Cerebellar atrophy
122553	TRAPPC6B	HP:0001252	Hypotonia
122553	TRAPPC6B	HP:0001263	Global developmental delay
122553	TRAPPC6B	HP:0007366	Atrophy/Degeneration affecting the brainstem
122553	TRAPPC6B	HP:0001347	Hyperreflexia
122553	TRAPPC6B	HP:0001324	Muscle weakness
122553	TRAPPC6B	HP:0001344	Absent speech
122553	TRAPPC6B	HP:0000007	Autosomal recessive inheritance
122553	TRAPPC6B	HP:0002015	Dysphagia
122553	TRAPPC6B	HP:0002069	Bilateral tonic-clonic seizure
122553	TRAPPC6B	HP:0002066	Gait ataxia
122553	TRAPPC6B	HP:0002079	Hypoplasia of the corpus callosum
122553	TRAPPC6B	HP:0002120	Cerebral cortical atrophy
122553	TRAPPC6B	HP:0002119	Ventriculomegaly
122553	TRAPPC6B	HP:0002136	Broad-based gait
122553	TRAPPC6B	HP:0002194	Delayed gross motor development
122553	TRAPPC6B	HP:0003593	Infantile onset
122553	TRAPPC6B	HP:0002378	Hand tremor
122553	TRAPPC6B	HP:0003676	Progressive
122553	TRAPPC6B	HP:0000666	Horizontal nystagmus
122553	TRAPPC6B	HP:0004322	Short stature
122553	TRAPPC6B	HP:0100023	Recurrent hand flapping
122553	TRAPPC6B	HP:0011463	Childhood onset
122553	TRAPPC6B	HP:0033044	Motor regression
122553	TRAPPC6B	HP:0000253	Progressive microcephaly
122553	TRAPPC6B	HP:0000486	Strabismus
122622	ADSS1	HP:0007210	Lower limb amyotrophy
122622	ADSS1	HP:0003731	Quadriceps muscle weakness
122622	ADSS1	HP:0002540	Inability to walk
122622	ADSS1	HP:0003805	Rimmed vacuoles
122622	ADSS1	HP:0000007	Autosomal recessive inheritance
122622	ADSS1	HP:0001315	Reduced tendon reflexes
122622	ADSS1	HP:0031108	Triceps weakness
122622	ADSS1	HP:0002600	Hyporeflexia of lower limbs
122622	ADSS1	HP:0008994	Proximal muscle weakness in lower limbs
122622	ADSS1	HP:0008959	Distal upper limb muscle weakness
122622	ADSS1	HP:0008944	Distal lower limb amyotrophy
122622	ADSS1	HP:0003376	Steppage gait
122622	ADSS1	HP:0008180	Mildly elevated creatine kinase
122622	ADSS1	HP:0003474	Somatic sensory dysfunction
122622	ADSS1	HP:0003555	Muscle fiber splitting
122622	ADSS1	HP:0003551	Difficulty climbing stairs
122622	ADSS1	HP:0002200	Pseudobulbar signs
122622	ADSS1	HP:0003693	Distal amyotrophy
122622	ADSS1	HP:0002359	Frequent falls
122622	ADSS1	HP:0003677	Slowly progressive
122622	ADSS1	HP:0002317	Unsteady gait
122622	ADSS1	HP:0003621	Juvenile onset
122622	ADSS1	HP:0009072	Decreased Achilles reflex
122622	ADSS1	HP:0009050	Quadriceps muscle atrophy
122622	ADSS1	HP:0009053	Distal lower limb muscle weakness
122622	ADSS1	HP:0009046	Difficulty running
122622	ADSS1	HP:0009027	Foot dorsiflexor weakness
122622	ADSS1	HP:0009129	Upper limb amyotrophy
122622	ADSS1	HP:0003198	Myopathy
122622	ADSS1	HP:0030051	Tip-toe gait
122622	ADSS1	HP:0005216	Impaired mastication
122622	ADSS1	HP:0030319	Weakness of facial musculature
122961	ISCA2	HP:0002415	Leukodystrophy
122961	ISCA2	HP:0001290	Generalized hypotonia
122961	ISCA2	HP:0001257	Spasticity
122961	ISCA2	HP:0002518	Abnormal periventricular white matter morphology
122961	ISCA2	HP:0001347	Hyperreflexia
122961	ISCA2	HP:0001344	Absent speech
122961	ISCA2	HP:0000007	Autosomal recessive inheritance
122961	ISCA2	HP:0011923	Decreased activity of mitochondrial complex I
122961	ISCA2	HP:0003593	Infantile onset
122961	ISCA2	HP:0002376	Developmental regression
122961	ISCA2	HP:0003676	Progressive
122961	ISCA2	HP:0000639	Nystagmus
122961	ISCA2	HP:0000648	Optic atrophy
122961	ISCA2	HP:0012736	Profound global developmental delay
122961	ISCA2	HP:0031358	Vegetative state
122961	ISCA2	HP:0000505	Visual impairment
123016	TTC8	HP:0001162	Postaxial hand polydactyly
123016	TTC8	HP:0001249	Intellectual disability
123016	TTC8	HP:0001263	Global developmental delay
123016	TTC8	HP:0006101	Finger syndactyly
123016	TTC8	HP:0008736	Hypoplasia of penis
123016	TTC8	HP:0008724	Hypoplasia of the ovary
123016	TTC8	HP:0001395	Hepatic fibrosis
123016	TTC8	HP:0000077	Abnormality of the kidney
123016	TTC8	HP:0000047	Hypospadias
123016	TTC8	HP:0001347	Hyperreflexia
123016	TTC8	HP:0000035	Abnormal testis morphology
123016	TTC8	HP:0000028	Cryptorchidism
123016	TTC8	HP:0000007	Autosomal recessive inheritance
123016	TTC8	HP:0000003	Multicystic kidney dysplasia
123016	TTC8	HP:0000135	Hypogonadism
123016	TTC8	HP:0007675	Progressive night blindness
123016	TTC8	HP:0007663	Reduced visual acuity
123016	TTC8	HP:0000100	Nephrotic syndrome
123016	TTC8	HP:0000110	Renal dysplasia
123016	TTC8	HP:0005978	Type II diabetes mellitus
123016	TTC8	HP:0010442	Polydactyly
123016	TTC8	HP:0002167	Abnormality of speech or vocalization
123016	TTC8	HP:0003577	Congenital onset
123016	TTC8	HP:0002230	Generalized hirsutism
123016	TTC8	HP:0008323	Abnormal light- and dark-adapted electroretinogram
123016	TTC8	HP:0010747	Medial flaring of the eyebrow
123016	TTC8	HP:0000639	Nystagmus
123016	TTC8	HP:0000648	Optic atrophy
123016	TTC8	HP:0000618	Blindness
123016	TTC8	HP:0000613	Photophobia
123016	TTC8	HP:0000608	Macular degeneration
123016	TTC8	HP:0000602	Ophthalmoplegia
123016	TTC8	HP:0000662	Nyctalopia
123016	TTC8	HP:0004322	Short stature
123016	TTC8	HP:0011463	Childhood onset
123016	TTC8	HP:0000842	Hyperinsulinemia
123016	TTC8	HP:0000822	Hypertension
123016	TTC8	HP:0003202	Skeletal muscle atrophy
123016	TTC8	HP:0100259	Postaxial polydactyly
123016	TTC8	HP:0000980	Pallor
123016	TTC8	HP:0000987	Atypical scarring of skin
123016	TTC8	HP:0008046	Abnormal retinal vascular morphology
123016	TTC8	HP:0007703	Abnormality of retinal pigmentation
123016	TTC8	HP:0007737	Bone spicule pigmentation of the retina
123016	TTC8	HP:0000248	Brachycephaly
123016	TTC8	HP:0001513	Obesity
123016	TTC8	HP:0007843	Attenuation of retinal blood vessels
123016	TTC8	HP:0001696	Situs inversus totalis
123016	TTC8	HP:0000365	Hearing impairment
123016	TTC8	HP:0011003	High myopia
123016	TTC8	HP:0000368	Low-set, posteriorly rotated ears
123016	TTC8	HP:0000407	Sensorineural hearing impairment
123016	TTC8	HP:0000405	Conductive hearing impairment
123016	TTC8	HP:0000494	Downslanted palpebral fissures
123016	TTC8	HP:0000463	Anteverted nares
123016	TTC8	HP:0000470	Short neck
123016	TTC8	HP:0000431	Wide nasal bridge
123016	TTC8	HP:0000426	Prominent nasal bridge
123016	TTC8	HP:0000518	Cataract
123016	TTC8	HP:0000510	Rod-cone dystrophy
123016	TTC8	HP:0000512	Abnormal electroretinogram
123016	TTC8	HP:0000505	Visual impairment
123016	TTC8	HP:0000501	Glaucoma
123016	TTC8	HP:0000580	Pigmentary retinopathy
123016	TTC8	HP:0000563	Keratoconus
123041	SLC24A4	HP:0000007	Autosomal recessive inheritance
123041	SLC24A4	HP:0006286	Yellow-brown discoloration of the teeth
123041	SLC24A4	HP:0002164	Nail dysplasia
123041	SLC24A4	HP:0000670	Carious teeth
123041	SLC24A4	HP:0000705	Amelogenesis imperfecta
123041	SLC24A4	HP:0011463	Childhood onset
123263	MTFMT	HP:0002490	Increased CSF lactate
123263	MTFMT	HP:0007256	Abnormal pyramidal sign
123263	MTFMT	HP:0010864	Intellectual disability, severe
123263	MTFMT	HP:0002415	Leukodystrophy
123263	MTFMT	HP:0001250	Seizure
123263	MTFMT	HP:0001252	Hypotonia
123263	MTFMT	HP:0001251	Ataxia
123263	MTFMT	HP:0001249	Intellectual disability
123263	MTFMT	HP:0001260	Dysarthria
123263	MTFMT	HP:0001263	Global developmental delay
123263	MTFMT	HP:0001257	Spasticity
123263	MTFMT	HP:0007334	Bilateral tonic-clonic seizure with focal onset
123263	MTFMT	HP:0002510	Spastic tetraplegia
123263	MTFMT	HP:0002500	Abnormal cerebral white matter morphology
123263	MTFMT	HP:0000023	Inguinal hernia
123263	MTFMT	HP:0001347	Hyperreflexia
123263	MTFMT	HP:0001332	Dystonia
123263	MTFMT	HP:0000011	Neurogenic bladder
123263	MTFMT	HP:0000007	Autosomal recessive inheritance
123263	MTFMT	HP:0001337	Tremor
123263	MTFMT	HP:0007663	Reduced visual acuity
123263	MTFMT	HP:0008972	Decreased activity of mitochondrial respiratory chain
123263	MTFMT	HP:0005943	Respiratory arrest
123263	MTFMT	HP:0100543	Cognitive impairment
123263	MTFMT	HP:0002073	Progressive cerebellar ataxia
123263	MTFMT	HP:0002151	Increased serum lactate
123263	MTFMT	HP:0002104	Apnea
123263	MTFMT	HP:0011923	Decreased activity of mitochondrial complex I
123263	MTFMT	HP:0003593	Infantile onset
123263	MTFMT	HP:0007020	Progressive spastic paraplegia
123263	MTFMT	HP:0008347	Decreased activity of mitochondrial complex IV
123263	MTFMT	HP:0002344	Progressive neurologic deterioration
123263	MTFMT	HP:0002317	Unsteady gait
123263	MTFMT	HP:0009830	Peripheral neuropathy
123263	MTFMT	HP:0200055	Small hand
123263	MTFMT	HP:0002311	Incoordination
123263	MTFMT	HP:0007183	Focal T2 hyperintense basal ganglia lesion
123263	MTFMT	HP:0000639	Nystagmus
123263	MTFMT	HP:0000648	Optic atrophy
123263	MTFMT	HP:0001941	Acidosis
123263	MTFMT	HP:0000602	Ophthalmoplegia
123263	MTFMT	HP:0001903	Anemia
123263	MTFMT	HP:0004322	Short stature
123263	MTFMT	HP:0100022	Abnormality of movement
123263	MTFMT	HP:0000750	Delayed speech and language development
123263	MTFMT	HP:0000712	Emotional lability
123263	MTFMT	HP:0030765	Sleep terror
123263	MTFMT	HP:0000822	Hypertension
123263	MTFMT	HP:0000998	Hypertrichosis
123263	MTFMT	HP:0000954	Single transverse palmar crease
123263	MTFMT	HP:0005144	Ventricular septal hypertrophy
123263	MTFMT	HP:0000252	Microcephaly
123263	MTFMT	HP:0001508	Failure to thrive
123263	MTFMT	HP:0001513	Obesity
123263	MTFMT	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
123263	MTFMT	HP:0005165	Shortened PR interval
123263	MTFMT	HP:0000365	Hearing impairment
123263	MTFMT	HP:0001629	Ventricular septal defect
123263	MTFMT	HP:0001639	Hypertrophic cardiomyopathy
123263	MTFMT	HP:0001716	Wolff-Parkinson-White syndrome
123263	MTFMT	HP:0000486	Strabismus
123263	MTFMT	HP:0000511	Vertical supranuclear gaze palsy
123263	MTFMT	HP:0000508	Ptosis
123263	MTFMT	HP:0000580	Pigmentary retinopathy
123263	MTFMT	HP:0000543	Optic disc pallor
123264	SLC51B	HP:0002570	Steatorrhea
123264	SLC51B	HP:0025321	Copper accumulation in liver
123264	SLC51B	HP:0000007	Autosomal recessive inheritance
123264	SLC51B	HP:0001405	Periportal fibrosis
123264	SLC51B	HP:0002028	Chronic diarrhea
123264	SLC51B	HP:0030948	Elevated gamma-glutamyltransferase level
123264	SLC51B	HP:0100512	Low levels of vitamin D
123264	SLC51B	HP:0100513	Low levels of vitamin E
123264	SLC51B	HP:0003623	Neonatal onset
123264	SLC51B	HP:0004905	Low levels of vitamin A
123264	SLC51B	HP:0034048	Decreased circulating chenodeoxycholic acid concentration
123264	SLC51B	HP:0031956	Elevated circulating aspartate aminotransferase concentration
123264	SLC51B	HP:0031964	Elevated circulating alanine aminotransferase concentration
123264	SLC51B	HP:0006579	Prolonged neonatal jaundice
123606	NIPA1	HP:0002495	Impaired vibratory sensation
123606	NIPA1	HP:0001270	Motor delay
123606	NIPA1	HP:0001288	Gait disturbance
123606	NIPA1	HP:0001250	Seizure
123606	NIPA1	HP:0001251	Ataxia
123606	NIPA1	HP:0001249	Intellectual disability
123606	NIPA1	HP:0001263	Global developmental delay
123606	NIPA1	HP:0001258	Spastic paraplegia
123606	NIPA1	HP:0410263	Brain imaging abnormality
123606	NIPA1	HP:0007340	Lower limb muscle weakness
123606	NIPA1	HP:0003828	Variable expressivity
123606	NIPA1	HP:0008800	Limited hip movement
123606	NIPA1	HP:0000020	Urinary incontinence
123606	NIPA1	HP:0001347	Hyperreflexia
123606	NIPA1	HP:0000012	Urinary urgency
123606	NIPA1	HP:0001337	Tremor
123606	NIPA1	HP:0000006	Autosomal dominant inheritance
123606	NIPA1	HP:0000174	Abnormal palate morphology
123606	NIPA1	HP:0002069	Bilateral tonic-clonic seizure
123606	NIPA1	HP:0002064	Spastic gait
123606	NIPA1	HP:0002061	Lower limb spasticity
123606	NIPA1	HP:0003487	Babinski sign
123606	NIPA1	HP:0002198	Dilated fourth ventricle
123606	NIPA1	HP:0002169	Clonus
123606	NIPA1	HP:0002166	Impaired vibration sensation in the lower limbs
123606	NIPA1	HP:0002174	Postural tremor
123606	NIPA1	HP:0002172	Postural instability
123606	NIPA1	HP:0010522	Dyslexia
123606	NIPA1	HP:0010505	Limitation of movement at ankles
123606	NIPA1	HP:0003587	Insidious onset
123606	NIPA1	HP:0100716	Self-injurious behavior
123606	NIPA1	HP:0100753	Schizophrenia
123606	NIPA1	HP:0007018	Attention deficit hyperactivity disorder
123606	NIPA1	HP:0002395	Lower limb hyperreflexia
123606	NIPA1	HP:0002370	Poor coordination
123606	NIPA1	HP:0003676	Progressive
123606	NIPA1	HP:0002354	Memory impairment
123606	NIPA1	HP:0002314	Degeneration of the lateral corticospinal tracts
123606	NIPA1	HP:0006891	Thick cerebral cortex
123606	NIPA1	HP:0001999	Abnormal facial shape
123606	NIPA1	HP:0000736	Short attention span
123606	NIPA1	HP:0000750	Delayed speech and language development
123606	NIPA1	HP:0000717	Autism
123606	NIPA1	HP:0000729	Autistic behavior
123606	NIPA1	HP:0000708	Atypical behavior
123606	NIPA1	HP:0003202	Skeletal muscle atrophy
123606	NIPA1	HP:0000252	Microcephaly
123606	NIPA1	HP:0002839	Urinary bladder sphincter dysfunction
123606	NIPA1	HP:0000377	Abnormal pinna morphology
123606	NIPA1	HP:0005160	Total anomalous pulmonary venous return
123606	NIPA1	HP:0000337	Broad forehead
123606	NIPA1	HP:0001680	Coarctation of aorta
123606	NIPA1	HP:0001629	Ventricular septal defect
123606	NIPA1	HP:0001627	Abnormal heart morphology
123606	NIPA1	HP:0001636	Tetralogy of Fallot
123606	NIPA1	HP:0001631	Atrial septal defect
123606	NIPA1	HP:0001761	Pes cavus
123624	AGBL1	HP:0001131	Corneal dystrophy
123624	AGBL1	HP:0012038	Corneal guttata
123624	AGBL1	HP:0000006	Autosomal dominant inheritance
123624	AGBL1	HP:0007663	Reduced visual acuity
123624	AGBL1	HP:0003581	Adult onset
123624	AGBL1	HP:0000662	Nyctalopia
123624	AGBL1	HP:0011488	Abnormal corneal endothelium morphology
123624	AGBL1	HP:0011491	Reduced number of corneal endothelial cells
123624	AGBL1	HP:0011490	Abnormal Descemet membrane morphology
123624	AGBL1	HP:0030857	Eye movement-induced pain
123624	AGBL1	HP:0000969	Edema
123624	AGBL1	HP:0007957	Corneal opacity
123624	AGBL1	HP:0000572	Visual loss
123872	DNAAF1	HP:0025177	Peribronchovascular interstitial thickening
123872	DNAAF1	HP:0002566	Intestinal malrotation
123872	DNAAF1	HP:0001217	Clubbing
123872	DNAAF1	HP:0000007	Autosomal recessive inheritance
123872	DNAAF1	HP:0002643	Neonatal respiratory distress
123872	DNAAF1	HP:0000119	Abnormality of the genitourinary system
123872	DNAAF1	HP:0032543	Lithoptysis
123872	DNAAF1	HP:0031245	Productive cough
123872	DNAAF1	HP:0002011	Morphological central nervous system abnormality
123872	DNAAF1	HP:0100582	Nasal polyposis
123872	DNAAF1	HP:0002119	Ventriculomegaly
123872	DNAAF1	HP:0002110	Bronchiectasis
123872	DNAAF1	HP:0008222	Female infertility
123872	DNAAF1	HP:0002257	Chronic rhinitis
123872	DNAAF1	HP:0100750	Atelectasis
123872	DNAAF1	HP:0032016	Abnormal sputum
123872	DNAAF1	HP:0011947	Respiratory tract infection
123872	DNAAF1	HP:0010772	Anomalous pulmonary venous return
123872	DNAAF1	HP:0030680	Abnormality of cardiovascular system morphology
123872	DNAAF1	HP:0000750	Delayed speech and language development
123872	DNAAF1	HP:0000789	Infertility
123872	DNAAF1	HP:0000924	Abnormality of the skeletal system
123872	DNAAF1	HP:0011539	Atrial situs ambiguous
123872	DNAAF1	HP:0011535	Abnormal atrial arrangement
123872	DNAAF1	HP:0030828	Wheezing
123872	DNAAF1	HP:0003251	Male infertility
123872	DNAAF1	HP:0011617	Pulmonary situs ambiguus
123872	DNAAF1	HP:0025576	Abnormal inferior vena cava morphology
123872	DNAAF1	HP:0012257	Absent inner dynein arms
123872	DNAAF1	HP:0012265	Ciliary dyskinesia
123872	DNAAF1	HP:0012263	Immotile cilia
123872	DNAAF1	HP:0012256	Absent outer dynein arms
123872	DNAAF1	HP:0000238	Hydrocephalus
123872	DNAAF1	HP:0012206	Abnormal sperm motility
123872	DNAAF1	HP:0002878	Respiratory failure
123872	DNAAF1	HP:0002837	Recurrent bronchitis
123872	DNAAF1	HP:0000389	Chronic otitis media
123872	DNAAF1	HP:0006536	Airway obstruction
123872	DNAAF1	HP:0001696	Situs inversus totalis
123872	DNAAF1	HP:0000365	Hearing impairment
123872	DNAAF1	HP:0001669	Transposition of the great arteries
123872	DNAAF1	HP:0031456	Ectopic pregnancy
123872	DNAAF1	HP:0001627	Abnormal heart morphology
123872	DNAAF1	HP:0005301	Persistent left superior vena cava
123872	DNAAF1	HP:0000403	Recurrent otitis media
123872	DNAAF1	HP:0000405	Conductive hearing impairment
123872	DNAAF1	HP:0001719	Double outlet right ventricle
123872	DNAAF1	HP:0011109	Chronic sinusitis
123872	DNAAF1	HP:0011108	Recurrent sinusitis
123872	DNAAF1	HP:0001746	Asplenia
123872	DNAAF1	HP:0001748	Polysplenia
123872	DNAAF1	HP:0001742	Nasal congestion
123872	DNAAF1	HP:0005425	Recurrent sinopulmonary infections
123872	DNAAF1	HP:0011274	Recurrent mycobacterial infections
123872	DNAAF1	HP:0000510	Rod-cone dystrophy
124093	CCDC78	HP:0001270	Motor delay
124093	CCDC78	HP:0001250	Seizure
124093	CCDC78	HP:0001252	Hypotonia
124093	CCDC78	HP:0001249	Intellectual disability
124093	CCDC78	HP:0003803	Type 1 muscle fiber predominance
124093	CCDC78	HP:0001324	Muscle weakness
124093	CCDC78	HP:0000006	Autosomal dominant inheritance
124093	CCDC78	HP:0003326	Myalgia
124093	CCDC78	HP:0003546	Exercise intolerance
124093	CCDC78	HP:0002359	Frequent falls
124093	CCDC78	HP:0003687	Centrally nucleated skeletal muscle fibers
124093	CCDC78	HP:0003623	Neonatal onset
124093	CCDC78	HP:0011463	Childhood onset
124093	CCDC78	HP:0040081	Abnormal circulating creatine kinase concentration
124404	SEPTIN12	HP:0000006	Autosomal dominant inheritance
124404	SEPTIN12	HP:0011462	Young adult onset
124404	SEPTIN12	HP:0000798	Oligospermia
124404	SEPTIN12	HP:0012864	Abnormal sperm morphology
124404	SEPTIN12	HP:0003251	Male infertility
124404	SEPTIN12	HP:0012207	Reduced sperm motility
124454	EARS2	HP:0002421	Poor head control
124454	EARS2	HP:0001274	Agenesis of corpus callosum
124454	EARS2	HP:0001285	Spastic tetraparesis
124454	EARS2	HP:0001250	Seizure
124454	EARS2	HP:0001252	Hypotonia
124454	EARS2	HP:0001263	Global developmental delay
124454	EARS2	HP:0001396	Cholestasis
124454	EARS2	HP:0001332	Dystonia
124454	EARS2	HP:0001344	Absent speech
124454	EARS2	HP:0000007	Autosomal recessive inheritance
124454	EARS2	HP:0001319	Neonatal hypotonia
124454	EARS2	HP:0000175	Cleft palate
124454	EARS2	HP:0008936	Axial hypotonia
124454	EARS2	HP:0006254	Elevated circulating alpha-fetoprotein concentration
124454	EARS2	HP:0001403	Macrovesicular hepatic steatosis
124454	EARS2	HP:0002067	Bradykinesia
124454	EARS2	HP:0002079	Hypoplasia of the corpus callosum
124454	EARS2	HP:0003487	Babinski sign
124454	EARS2	HP:0002151	Increased serum lactate
124454	EARS2	HP:0011924	Decreased activity of mitochondrial complex III
124454	EARS2	HP:0011923	Decreased activity of mitochondrial complex I
124454	EARS2	HP:0002188	Delayed CNS myelination
124454	EARS2	HP:0003593	Infantile onset
124454	EARS2	HP:0002240	Hepatomegaly
124454	EARS2	HP:0008347	Decreased activity of mitochondrial complex IV
124454	EARS2	HP:0011968	Feeding difficulties
124454	EARS2	HP:0002376	Developmental regression
124454	EARS2	HP:0002352	Leukoencephalopathy
124454	EARS2	HP:0000602	Ophthalmoplegia
124454	EARS2	HP:0006989	Dysplastic corpus callosum
124454	EARS2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
124454	EARS2	HP:0031964	Elevated circulating alanine aminotransferase concentration
124454	EARS2	HP:0003128	Lactic acidosis
124454	EARS2	HP:0003200	Ragged-red muscle fibers
124454	EARS2	HP:0001508	Failure to thrive
124454	EARS2	HP:0000508	Ptosis
124454	EARS2	HP:0000505	Visual impairment
124512	METTL23	HP:0001256	Intellectual disability, mild
124512	METTL23	HP:0001252	Hypotonia
124512	METTL23	HP:0001249	Intellectual disability
124512	METTL23	HP:0001263	Global developmental delay
124512	METTL23	HP:0007359	Focal-onset seizure
124512	METTL23	HP:0000049	Shawl scrotum
124512	METTL23	HP:0000007	Autosomal recessive inheritance
124512	METTL23	HP:0000193	Bifid uvula
124512	METTL23	HP:0002069	Bilateral tonic-clonic seizure
124512	METTL23	HP:0003593	Infantile onset
124512	METTL23	HP:0000233	Thin vermilion border
124512	METTL23	HP:0000343	Long philtrum
124512	METTL23	HP:0005280	Depressed nasal bridge
124512	METTL23	HP:0000463	Anteverted nares
124512	METTL23	HP:0001763	Pes planus
124512	METTL23	HP:0005469	Flat occiput
124583	CANT1	HP:0001156	Brachydactyly
124583	CANT1	HP:0001290	Generalized hypotonia
124583	CANT1	HP:0001270	Motor delay
124583	CANT1	HP:0001252	Hypotonia
124583	CANT1	HP:0001249	Intellectual disability
124583	CANT1	HP:0100864	Short femoral neck
124583	CANT1	HP:0002515	Waddling gait
124583	CANT1	HP:0003828	Variable expressivity
124583	CANT1	HP:0001373	Joint dislocation
124583	CANT1	HP:0001388	Joint laxity
124583	CANT1	HP:0008873	Disproportionate short-limb short stature
124583	CANT1	HP:0002656	Epiphyseal dysplasia
124583	CANT1	HP:0002673	Coxa valga
124583	CANT1	HP:0000007	Autosomal recessive inheritance
124583	CANT1	HP:0002650	Scoliosis
124583	CANT1	HP:0002643	Neonatal respiratory distress
124583	CANT1	HP:0000160	Narrow mouth
124583	CANT1	HP:0006243	Phalangeal dislocation
124583	CANT1	HP:0002758	Osteoarthritis
124583	CANT1	HP:0003366	Abnormal femoral neck/head morphology
124583	CANT1	HP:0003307	Hyperlordosis
124583	CANT1	HP:0011800	Midface retrusion
124583	CANT1	HP:0009467	Radial deviation of the 2nd finger
124583	CANT1	HP:0033102	Monkey wrench femoral neck
124583	CANT1	HP:0008108	Advanced tarsal ossification
124583	CANT1	HP:0009611	Bifid distal phalanx of the thumb
124583	CANT1	HP:0100490	Camptodactyly of finger
124583	CANT1	HP:0003510	Severe short stature
124583	CANT1	HP:0003502	Mild short stature
124583	CANT1	HP:0001087	Developmental glaucoma
124583	CANT1	HP:0200055	Small hand
124583	CANT1	HP:0009774	Triangular shaped phalanges of the hand
124583	CANT1	HP:0010743	Short metatarsal
124583	CANT1	HP:0008422	Vertebral wedging
124583	CANT1	HP:0004209	Clinodactyly of the 5th finger
124583	CANT1	HP:0010097	Partial duplication of the distal phalanx of the hallux
124583	CANT1	HP:0010068	Broad first metatarsal
124583	CANT1	HP:0004233	Advanced ossification of carpal bones
124583	CANT1	HP:0010034	Short 1st metacarpal
124583	CANT1	HP:0005616	Accelerated skeletal maturation
124583	CANT1	HP:0003071	Flattened epiphysis
124583	CANT1	HP:0005692	Joint hyperflexibility
124583	CANT1	HP:0003042	Elbow dislocation
124583	CANT1	HP:0003016	Metaphyseal widening
124583	CANT1	HP:0000774	Narrow chest
124583	CANT1	HP:0003196	Short nose
124583	CANT1	HP:0000926	Platyspondyly
124583	CANT1	HP:0003180	Flat acetabular roof
124583	CANT1	HP:0003090	Hypoplasia of the capital femoral epiphysis
124583	CANT1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
124583	CANT1	HP:0000939	Osteoporosis
124583	CANT1	HP:0000944	Abnormal metaphysis morphology
124583	CANT1	HP:0008082	Medial deviation of the foot
124583	CANT1	HP:0008070	Sparse hair
124583	CANT1	HP:0001591	Bell-shaped thorax
124583	CANT1	HP:0000272	Malar flattening
124583	CANT1	HP:0006439	Radioulnar dislocation
124583	CANT1	HP:0006429	Broad femoral neck
124583	CANT1	HP:0002816	Genu recurvatum
124583	CANT1	HP:0002812	Coxa vara
124583	CANT1	HP:0002808	Kyphosis
124583	CANT1	HP:0005067	Proximal fibular overgrowth
124583	CANT1	HP:0001511	Intrauterine growth retardation
124583	CANT1	HP:0001510	Growth delay
124583	CANT1	HP:0001513	Obesity
124583	CANT1	HP:0000368	Low-set, posteriorly rotated ears
124583	CANT1	HP:0000343	Long philtrum
124583	CANT1	HP:0002999	Patellar dislocation
124583	CANT1	HP:0000319	Smooth philtrum
124583	CANT1	HP:0000311	Round face
124583	CANT1	HP:0002974	Radioulnar synostosis
124583	CANT1	HP:0001629	Ventricular septal defect
124583	CANT1	HP:0002970	Genu varum
124583	CANT1	HP:0000308	Microretrognathia
124583	CANT1	HP:0000499	Abnormal eyelash morphology
124583	CANT1	HP:0005280	Depressed nasal bridge
124583	CANT1	HP:0000463	Anteverted nares
124583	CANT1	HP:0011120	Concave nasal ridge
124583	CANT1	HP:0000470	Short neck
124583	CANT1	HP:0001763	Pes planus
124583	CANT1	HP:0001762	Talipes equinovarus
124583	CANT1	HP:0001852	Sandal gap
124583	CANT1	HP:0000520	Proptosis
124583	CANT1	HP:0000501	Glaucoma
124583	CANT1	HP:0000592	Blue sclerae
124583	CANT1	HP:0000545	Myopia
124590	USH1G	HP:0001251	Ataxia
124590	USH1G	HP:0001249	Intellectual disability
124590	USH1G	HP:0001263	Global developmental delay
124590	USH1G	HP:0007360	Aplasia/Hypoplasia of the cerebellum
124590	USH1G	HP:0000007	Autosomal recessive inheritance
124590	USH1G	HP:0012157	Subcortical cerebral atrophy
124590	USH1G	HP:0004646	Hypoplasia of the nasal bone
124590	USH1G	HP:0002120	Cerebral cortical atrophy
124590	USH1G	HP:0100753	Schizophrenia
124590	USH1G	HP:0008499	High hypermetropia
124590	USH1G	HP:0000682	Abnormal dental enamel morphology
124590	USH1G	HP:0000662	Nyctalopia
124590	USH1G	HP:0000738	Hallucinations
124590	USH1G	HP:0000739	Anxiety
124590	USH1G	HP:0000716	Depression
124590	USH1G	HP:0007730	Iris hypopigmentation
124590	USH1G	HP:0012377	Hemianopia
124590	USH1G	HP:0000375	Abnormal cochlea morphology
124590	USH1G	HP:0000407	Sensorineural hearing impairment
124590	USH1G	HP:0001751	Abnormal vestibular function
124590	USH1G	HP:0001756	Vestibular hypofunction
124590	USH1G	HP:0000518	Cataract
124590	USH1G	HP:0000510	Rod-cone dystrophy
124590	USH1G	HP:0000512	Abnormal electroretinogram
124590	USH1G	HP:0000575	Scotoma
124590	USH1G	HP:0000572	Visual loss
124842	TMEM132E	HP:0000007	Autosomal recessive inheritance
124842	TMEM132E	HP:0000407	Sensorineural hearing impairment
124842	TMEM132E	HP:0001751	Abnormal vestibular function
124976	SPNS2	HP:0000007	Autosomal recessive inheritance
124976	SPNS2	HP:0000407	Sensorineural hearing impairment
124997	WDR81	HP:0010864	Intellectual disability, severe
124997	WDR81	HP:0001272	Cerebellar atrophy
124997	WDR81	HP:0001288	Gait disturbance
124997	WDR81	HP:0001250	Seizure
124997	WDR81	HP:0001252	Hypotonia
124997	WDR81	HP:0001251	Ataxia
124997	WDR81	HP:0001249	Intellectual disability
124997	WDR81	HP:0001265	Hyporeflexia
124997	WDR81	HP:0001260	Dysarthria
124997	WDR81	HP:0001263	Global developmental delay
124997	WDR81	HP:0001347	Hyperreflexia
124997	WDR81	HP:0001360	Holoprosencephaly
124997	WDR81	HP:0000007	Autosomal recessive inheritance
124997	WDR81	HP:0001337	Tremor
124997	WDR81	HP:0001310	Dysmetria
124997	WDR81	HP:0001305	Dandy-Walker malformation
124997	WDR81	HP:0001321	Cerebellar hypoplasia
124997	WDR81	HP:0005989	Redundant neck skin
124997	WDR81	HP:0002078	Truncal ataxia
124997	WDR81	HP:0002079	Hypoplasia of the corpus callosum
124997	WDR81	HP:0002075	Dysdiadochokinesis
124997	WDR81	HP:0002119	Ventriculomegaly
124997	WDR81	HP:0003593	Infantile onset
124997	WDR81	HP:0003577	Congenital onset
124997	WDR81	HP:0002283	Global brain atrophy
124997	WDR81	HP:0007047	Atrophy of the dentate nucleus
124997	WDR81	HP:0007063	Aplasia of the inferior half of the cerebellar vermis
124997	WDR81	HP:0001007	Hirsutism
124997	WDR81	HP:0002324	Hydranencephaly
124997	WDR81	HP:0200055	Small hand
124997	WDR81	HP:0004279	Short palm
124997	WDR81	HP:0006887	Intellectual disability, progressive
124997	WDR81	HP:0012642	Cerebellar agenesis
124997	WDR81	HP:0001999	Abnormal facial shape
124997	WDR81	HP:0004322	Short stature
124997	WDR81	HP:0100021	Cerebral palsy
124997	WDR81	HP:0100022	Abnormality of movement
124997	WDR81	HP:0000750	Delayed speech and language development
124997	WDR81	HP:0003202	Skeletal muscle atrophy
124997	WDR81	HP:0000280	Coarse facial features
124997	WDR81	HP:0000238	Hydrocephalus
124997	WDR81	HP:0001561	Polyhydramnios
124997	WDR81	HP:0002942	Thoracic kyphosis
124997	WDR81	HP:0002943	Thoracic scoliosis
124997	WDR81	HP:0000486	Strabismus
124997	WDR81	HP:0000478	Abnormality of the eye
124997	WDR81	HP:0000464	Abnormality of the neck
124997	WDR81	HP:0012444	Brain atrophy
124997	WDR81	HP:0001773	Short foot
124997	WDR81	HP:0000518	Cataract
124997	WDR81	HP:0000504	Abnormality of vision
125150	ZSWIM7	HP:0001166	Arachnodactyly
125150	ZSWIM7	HP:0009888	Abnormality of secondary sexual hair
125150	ZSWIM7	HP:0001251	Ataxia
125150	ZSWIM7	HP:0008724	Hypoplasia of the ovary
125150	ZSWIM7	HP:0008684	Aplasia/hypoplasia of the uterus
125150	ZSWIM7	HP:0000062	Ambiguous genitalia
125150	ZSWIM7	HP:0000007	Autosomal recessive inheritance
125150	ZSWIM7	HP:0000144	Decreased fertility
125150	ZSWIM7	HP:0000133	Gonadal dysgenesis
125150	ZSWIM7	HP:0002750	Delayed skeletal maturation
125150	ZSWIM7	HP:0010464	Streak ovary
125150	ZSWIM7	HP:0008232	Elevated circulating follicle stimulating hormone level
125150	ZSWIM7	HP:0008209	Premature ovarian insufficiency
125150	ZSWIM7	HP:0008214	Decreased serum estradiol
125150	ZSWIM7	HP:0002225	Sparse pubic hair
125150	ZSWIM7	HP:0002206	Pulmonary fibrosis
125150	ZSWIM7	HP:0011969	Elevated circulating luteinizing hormone level
125150	ZSWIM7	HP:0011961	Non-obstructive azoospermia
125150	ZSWIM7	HP:0003621	Juvenile onset
125150	ZSWIM7	HP:0001939	Abnormality of metabolism/homeostasis
125150	ZSWIM7	HP:0004322	Short stature
125150	ZSWIM7	HP:0005625	Osteoporosis of vertebrae
125150	ZSWIM7	HP:0004349	Reduced bone mineral density
125150	ZSWIM7	HP:0011462	Young adult onset
125150	ZSWIM7	HP:0000786	Primary amenorrhea
125150	ZSWIM7	HP:0034299	Sertoli cell-only phenotype
125150	ZSWIM7	HP:0000869	Secondary amenorrhea
125150	ZSWIM7	HP:0000837	Increased circulating gonadotropin level
125150	ZSWIM7	HP:0000823	Delayed puberty
125150	ZSWIM7	HP:0003251	Male infertility
125150	ZSWIM7	HP:0010311	Aplasia/Hypoplasia of the breasts
125150	ZSWIM7	HP:0000938	Osteopenia
125150	ZSWIM7	HP:0000252	Microcephaly
125150	ZSWIM7	HP:0000365	Hearing impairment
125170	MIEF2	HP:0000007	Autosomal recessive inheritance
125170	MIEF2	HP:0003326	Myalgia
125170	MIEF2	HP:0003323	Progressive muscle weakness
125170	MIEF2	HP:0011924	Decreased activity of mitochondrial complex III
125170	MIEF2	HP:0011923	Decreased activity of mitochondrial complex I
125170	MIEF2	HP:0003551	Difficulty climbing stairs
125170	MIEF2	HP:0003546	Exercise intolerance
125170	MIEF2	HP:0008347	Decreased activity of mitochondrial complex IV
125170	MIEF2	HP:0008314	Decreased activity of mitochondrial complex II
125170	MIEF2	HP:0003688	Cytochrome C oxidase-negative muscle fibers
125170	MIEF2	HP:0002355	Difficulty walking
125170	MIEF2	HP:0003621	Juvenile onset
125170	MIEF2	HP:0003236	Elevated circulating creatine kinase concentration
125170	MIEF2	HP:0003200	Ragged-red muscle fibers
125336	LOXHD1	HP:0008619	Bilateral sensorineural hearing impairment
125336	LOXHD1	HP:0000007	Autosomal recessive inheritance
125336	LOXHD1	HP:0000360	Tinnitus
125336	LOXHD1	HP:0001751	Abnormal vestibular function
125988	MICOS13	HP:0002421	Poor head control
125988	MICOS13	HP:0001290	Generalized hypotonia
125988	MICOS13	HP:0001272	Cerebellar atrophy
125988	MICOS13	HP:0001288	Gait disturbance
125988	MICOS13	HP:0001252	Hypotonia
125988	MICOS13	HP:0001251	Ataxia
125988	MICOS13	HP:0001249	Intellectual disability
125988	MICOS13	HP:0001266	Choreoathetosis
125988	MICOS13	HP:0001260	Dysarthria
125988	MICOS13	HP:0001263	Global developmental delay
125988	MICOS13	HP:0001257	Spasticity
125988	MICOS13	HP:0001347	Hyperreflexia
125988	MICOS13	HP:0000007	Autosomal recessive inheritance
125988	MICOS13	HP:0001321	Cerebellar hypoplasia
125988	MICOS13	HP:0008936	Axial hypotonia
125988	MICOS13	HP:0001410	Decreased liver function
125988	MICOS13	HP:0001408	Bile duct proliferation
125988	MICOS13	HP:0001403	Macrovesicular hepatic steatosis
125988	MICOS13	HP:0003348	Hyperalaninemia
125988	MICOS13	HP:0002093	Respiratory insufficiency
125988	MICOS13	HP:0030948	Elevated gamma-glutamyltransferase level
125988	MICOS13	HP:0002045	Hypothermia
125988	MICOS13	HP:0008151	Prolonged prothrombin time
125988	MICOS13	HP:0002151	Increased serum lactate
125988	MICOS13	HP:0003593	Infantile onset
125988	MICOS13	HP:0003577	Congenital onset
125988	MICOS13	HP:0003535	3-Methylglutaconic aciduria
125988	MICOS13	HP:0011968	Feeding difficulties
125988	MICOS13	HP:0002344	Progressive neurologic deterioration
125988	MICOS13	HP:0003676	Progressive
125988	MICOS13	HP:0002313	Spastic paraparesis
125988	MICOS13	HP:0000639	Nystagmus
125988	MICOS13	HP:0000648	Optic atrophy
125988	MICOS13	HP:0001943	Hypoglycemia
125988	MICOS13	HP:0003073	Hypoalbuminemia
125988	MICOS13	HP:0003128	Lactic acidosis
125988	MICOS13	HP:0040031	Chorioretinal hyperpigmentation
125988	MICOS13	HP:0002878	Respiratory failure
125988	MICOS13	HP:0001508	Failure to thrive
125988	MICOS13	HP:0002910	Elevated hepatic transaminase
125988	MICOS13	HP:0032794	Myoclonic seizure
125988	MICOS13	HP:0001639	Hypertrophic cardiomyopathy
125988	MICOS13	HP:0032988	Persistent head lag
125988	MICOS13	HP:0000407	Sensorineural hearing impairment
125988	MICOS13	HP:0005484	Secondary microcephaly
125988	MICOS13	HP:0000505	Visual impairment
126129	CPT1C	HP:0003701	Proximal muscle weakness
126129	CPT1C	HP:0001250	Seizure
126129	CPT1C	HP:0001258	Spastic paraplegia
126129	CPT1C	HP:0000020	Urinary incontinence
126129	CPT1C	HP:0001347	Hyperreflexia
126129	CPT1C	HP:0000012	Urinary urgency
126129	CPT1C	HP:0000006	Autosomal dominant inheritance
126129	CPT1C	HP:0008944	Distal lower limb amyotrophy
126129	CPT1C	HP:0002064	Spastic gait
126129	CPT1C	HP:0002061	Lower limb spasticity
126129	CPT1C	HP:0003487	Babinski sign
126129	CPT1C	HP:0003457	EMG abnormality
126129	CPT1C	HP:0002166	Impaired vibration sensation in the lower limbs
126129	CPT1C	HP:0003581	Adult onset
126129	CPT1C	HP:0007020	Progressive spastic paraplegia
126129	CPT1C	HP:0002355	Difficulty walking
126129	CPT1C	HP:0003677	Slowly progressive
126129	CPT1C	HP:0002314	Degeneration of the lateral corticospinal tracts
126129	CPT1C	HP:0007199	Progressive spastic paraparesis
126129	CPT1C	HP:0006886	Impaired distal vibration sensation
126129	CPT1C	HP:0009053	Distal lower limb muscle weakness
126129	CPT1C	HP:0000726	Dementia
126129	CPT1C	HP:0012898	Abnormal lower-limb motor evoked potentials
126129	CPT1C	HP:0003202	Skeletal muscle atrophy
126129	CPT1C	HP:0034397	Claw toe deformity
126129	CPT1C	HP:0034399	Prolonged central motor conduction time
126129	CPT1C	HP:0008075	Progressive pes cavus
126129	CPT1C	HP:0002921	Abnormal cerebrospinal fluid morphology
126326	GIPC3	HP:0000007	Autosomal recessive inheritance
126326	GIPC3	HP:0001999	Abnormal facial shape
126326	GIPC3	HP:0000399	Prelingual sensorineural hearing impairment
126326	GIPC3	HP:0000407	Sensorineural hearing impairment
126326	GIPC3	HP:0001751	Abnormal vestibular function
126326	GIPC3	HP:0000505	Visual impairment
126328	NDUFA11	HP:0025116	Fetal distress
126328	NDUFA11	HP:0002490	Increased CSF lactate
126328	NDUFA11	HP:0001138	Optic neuropathy
126328	NDUFA11	HP:0002421	Poor head control
126328	NDUFA11	HP:0002415	Leukodystrophy
126328	NDUFA11	HP:0003737	Mitochondrial myopathy
126328	NDUFA11	HP:0001298	Encephalopathy
126328	NDUFA11	HP:0001290	Generalized hypotonia
126328	NDUFA11	HP:0001254	Lethargy
126328	NDUFA11	HP:0001250	Seizure
126328	NDUFA11	HP:0001252	Hypotonia
126328	NDUFA11	HP:0001251	Ataxia
126328	NDUFA11	HP:0001263	Global developmental delay
126328	NDUFA11	HP:0001324	Muscle weakness
126328	NDUFA11	HP:0000007	Autosomal recessive inheritance
126328	NDUFA11	HP:0000114	Proximal tubulopathy
126328	NDUFA11	HP:0002013	Vomiting
126328	NDUFA11	HP:0002093	Respiratory insufficiency
126328	NDUFA11	HP:0002151	Increased serum lactate
126328	NDUFA11	HP:0002104	Apnea
126328	NDUFA11	HP:0011923	Decreased activity of mitochondrial complex I
126328	NDUFA11	HP:0002240	Hepatomegaly
126328	NDUFA11	HP:0003542	Increased serum pyruvate
126328	NDUFA11	HP:0200128	Biventricular hypertrophy
126328	NDUFA11	HP:0011968	Feeding difficulties
126328	NDUFA11	HP:0008316	Abnormal mitochondria in muscle tissue
126328	NDUFA11	HP:0002352	Leukoencephalopathy
126328	NDUFA11	HP:0003623	Neonatal onset
126328	NDUFA11	HP:0000639	Nystagmus
126328	NDUFA11	HP:0000648	Optic atrophy
126328	NDUFA11	HP:0000618	Blindness
126328	NDUFA11	HP:0001943	Hypoglycemia
126328	NDUFA11	HP:0012748	Focal T2 hyperintense brainstem lesion
126328	NDUFA11	HP:0003198	Myopathy
126328	NDUFA11	HP:0003128	Lactic acidosis
126328	NDUFA11	HP:0000819	Diabetes mellitus
126328	NDUFA11	HP:0000817	Reduced eye contact
126328	NDUFA11	HP:0007704	Paroxysmal involuntary eye movements
126328	NDUFA11	HP:0000252	Microcephaly
126328	NDUFA11	HP:0001508	Failure to thrive
126328	NDUFA11	HP:0001511	Intrauterine growth retardation
126328	NDUFA11	HP:0001639	Hypertrophic cardiomyopathy
126328	NDUFA11	HP:0000407	Sensorineural hearing impairment
126328	NDUFA11	HP:0000486	Strabismus
126328	NDUFA11	HP:0012444	Brain atrophy
126328	NDUFA11	HP:0005484	Secondary microcephaly
126328	NDUFA11	HP:0000508	Ptosis
126328	NDUFA11	HP:0000543	Optic disc pallor
126410	CYP4F22	HP:0100806	Sepsis
126410	CYP4F22	HP:0100840	Aplasia/Hypoplasia of the eyebrow
126410	CYP4F22	HP:0000083	Renal insufficiency
126410	CYP4F22	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
126410	CYP4F22	HP:0000007	Autosomal recessive inheritance
126410	CYP4F22	HP:0000164	Abnormality of the dentition
126410	CYP4F22	HP:0100543	Cognitive impairment
126410	CYP4F22	HP:0033252	Palmar hyperlinearity
126410	CYP4F22	HP:0003577	Congenital onset
126410	CYP4F22	HP:0002205	Recurrent respiratory infections
126410	CYP4F22	HP:0100758	Gangrene
126410	CYP4F22	HP:0001036	Parakeratosis
126410	CYP4F22	HP:0001019	Erythroderma
126410	CYP4F22	HP:0025092	Epidermal acanthosis
126410	CYP4F22	HP:0100679	Lack of skin elasticity
126410	CYP4F22	HP:0001944	Dehydration
126410	CYP4F22	HP:0001927	Acanthocytosis
126410	CYP4F22	HP:0000656	Ectropion
126410	CYP4F22	HP:0004322	Short stature
126410	CYP4F22	HP:0000989	Pruritus
126410	CYP4F22	HP:0000982	Palmoplantar keratoderma
126410	CYP4F22	HP:0000958	Dry skin
126410	CYP4F22	HP:0000962	Hyperkeratosis
126410	CYP4F22	HP:0040162	Orthokeratosis
126410	CYP4F22	HP:0008070	Sparse hair
126410	CYP4F22	HP:0008064	Ichthyosis
126410	CYP4F22	HP:0040190	White scaling skin
126410	CYP4F22	HP:0001597	Abnormality of the nail
126410	CYP4F22	HP:0000232	Everted lower lip vermilion
126410	CYP4F22	HP:0011039	Abnormal helix morphology
126410	CYP4F22	HP:0000389	Chronic otitis media
126695	KDF1	HP:0009886	Trichorrhexis nodosa
126695	KDF1	HP:0001231	Abnormal fingernail morphology
126695	KDF1	HP:0007387	Hypoplastic sweat glands
126695	KDF1	HP:0000006	Autosomal dominant inheritance
126695	KDF1	HP:0000164	Abnormality of the dentition
126695	KDF1	HP:0000175	Cleft palate
126695	KDF1	HP:0006323	Premature loss of primary teeth
126695	KDF1	HP:0032541	Knuckle pad
126695	KDF1	HP:0002047	Malignant hyperthermia
126695	KDF1	HP:0033252	Palmar hyperlinearity
126695	KDF1	HP:0002231	Sparse body hair
126695	KDF1	HP:0008404	Nail dystrophy
126695	KDF1	HP:0008392	Subungual hyperkeratosis
126695	KDF1	HP:0001000	Abnormality of skin pigmentation
126695	KDF1	HP:0032152	Keratosis pilaris
126695	KDF1	HP:0000695	Natal tooth
126695	KDF1	HP:0000668	Hypodontia
126695	KDF1	HP:0004552	Scarring alopecia of scalp
126695	KDF1	HP:0000964	Eczema
126695	KDF1	HP:0000966	Hypohidrosis
126695	KDF1	HP:0000963	Thin skin
126695	KDF1	HP:0040162	Orthokeratosis
126695	KDF1	HP:0008070	Sparse hair
126695	KDF1	HP:0040154	Acne inversa
126695	KDF1	HP:0006482	Abnormality of dental morphology
126695	KDF1	HP:0000322	Short philtrum
126695	KDF1	HP:0005338	Sparse lateral eyebrow
126695	KDF1	HP:0012471	Thick vermilion border
126695	KDF1	HP:0011120	Concave nasal ridge
126695	KDF1	HP:0000457	Depressed nasal ridge
126695	KDF1	HP:0011220	Prominent forehead
126792	B3GALT6	HP:0001181	Adducted thumb
126792	B3GALT6	HP:0001166	Arachnodactyly
126792	B3GALT6	HP:0001297	Stroke
126792	B3GALT6	HP:0001290	Generalized hypotonia
126792	B3GALT6	HP:0001270	Motor delay
126792	B3GALT6	HP:0001250	Seizure
126792	B3GALT6	HP:0001252	Hypotonia
126792	B3GALT6	HP:0001249	Intellectual disability
126792	B3GALT6	HP:0001263	Global developmental delay
126792	B3GALT6	HP:0001239	Wrist flexion contracture
126792	B3GALT6	HP:0100864	Short femoral neck
126792	B3GALT6	HP:0003865	Bowed humerus
126792	B3GALT6	HP:0008807	Acetabular dysplasia
126792	B3GALT6	HP:0001377	Limited elbow extension
126792	B3GALT6	HP:0001376	Limitation of joint mobility
126792	B3GALT6	HP:0001371	Flexion contracture
126792	B3GALT6	HP:0001385	Hip dysplasia
126792	B3GALT6	HP:0001388	Joint laxity
126792	B3GALT6	HP:0001382	Joint hypermobility
126792	B3GALT6	HP:0001363	Craniosynostosis
126792	B3GALT6	HP:0001357	Plagiocephaly
126792	B3GALT6	HP:0008897	Postnatal growth retardation
126792	B3GALT6	HP:0008828	Delayed proximal femoral epiphyseal ossification
126792	B3GALT6	HP:0012095	Multiple joint dislocation
126792	B3GALT6	HP:0008818	Large iliac wing
126792	B3GALT6	HP:0008824	Hypoplastic iliac body
126792	B3GALT6	HP:0002659	Increased susceptibility to fractures
126792	B3GALT6	HP:0002656	Epiphyseal dysplasia
126792	B3GALT6	HP:0002673	Coxa valga
126792	B3GALT6	HP:0000007	Autosomal recessive inheritance
126792	B3GALT6	HP:0002650	Scoliosis
126792	B3GALT6	HP:0002651	Spondyloepimetaphyseal dysplasia
126792	B3GALT6	HP:0001319	Neonatal hypotonia
126792	B3GALT6	HP:0002644	Abnormal pelvic girdle bone morphology
126792	B3GALT6	HP:0002616	Aortic root aneurysm
126792	B3GALT6	HP:0000175	Cleft palate
126792	B3GALT6	HP:0005008	Large joint dislocations
126792	B3GALT6	HP:0500087	Peripapillary atrophy
126792	B3GALT6	HP:0006243	Phalangeal dislocation
126792	B3GALT6	HP:0002779	Tracheomalacia
126792	B3GALT6	HP:0000126	Hydronephrosis
126792	B3GALT6	HP:0002757	Recurrent fractures
126792	B3GALT6	HP:0002756	Pathologic fracture
126792	B3GALT6	HP:0002751	Kyphoscoliosis
126792	B3GALT6	HP:0002007	Frontal bossing
126792	B3GALT6	HP:0003301	Irregular vertebral endplates
126792	B3GALT6	HP:0003300	Ovoid vertebral bodies
126792	B3GALT6	HP:0011800	Midface retrusion
126792	B3GALT6	HP:0002089	Pulmonary hypoplasia
126792	B3GALT6	HP:0002098	Respiratory distress
126792	B3GALT6	HP:0002093	Respiratory insufficiency
126792	B3GALT6	HP:0002091	Restrictive ventilatory defect
126792	B3GALT6	HP:0009465	Ulnar deviation of finger
126792	B3GALT6	HP:0005930	Abnormal epiphysis morphology
126792	B3GALT6	HP:0003468	Abnormal vertebral morphology
126792	B3GALT6	HP:0003414	Atlantoaxial dislocation
126792	B3GALT6	HP:0002176	Spinal cord compression
126792	B3GALT6	HP:0010550	Paraplegia
126792	B3GALT6	HP:0010575	Dysplasia of the femoral head
126792	B3GALT6	HP:0003593	Infantile onset
126792	B3GALT6	HP:0002209	Sparse scalp hair
126792	B3GALT6	HP:0009726	Renal neoplasm
126792	B3GALT6	HP:0009702	Carpal synostosis
126792	B3GALT6	HP:0100750	Atelectasis
126792	B3GALT6	HP:0010648	Dermal translucency
126792	B3GALT6	HP:0010646	Cervical spine instability
126792	B3GALT6	HP:0003510	Severe short stature
126792	B3GALT6	HP:0001030	Fragile skin
126792	B3GALT6	HP:0001027	Soft, doughy skin
126792	B3GALT6	HP:0004993	Slender long bones with narrow diaphyses
126792	B3GALT6	HP:0009832	Abnormal distal phalanx morphology of finger
126792	B3GALT6	HP:0009836	Broad distal phalanx of finger
126792	B3GALT6	HP:0009811	Abnormality of the elbow
126792	B3GALT6	HP:0001075	Atrophic scars
126792	B3GALT6	HP:0001083	Ectopia lentis
126792	B3GALT6	HP:0008453	Congenital kyphoscoliosis
126792	B3GALT6	HP:0004970	Ascending tubular aorta aneurysm
126792	B3GALT6	HP:0004209	Clinodactyly of the 5th finger
126792	B3GALT6	HP:0004233	Advanced ossification of carpal bones
126792	B3GALT6	HP:0000647	Sclerocornea
126792	B3GALT6	HP:0010049	Short metacarpal
126792	B3GALT6	HP:0011341	Long upper lip
126792	B3GALT6	HP:0000691	Microdontia
126792	B3GALT6	HP:0000670	Carious teeth
126792	B3GALT6	HP:0001999	Abnormal facial shape
126792	B3GALT6	HP:0004325	Decreased body weight
126792	B3GALT6	HP:0004322	Short stature
126792	B3GALT6	HP:0030680	Abnormality of cardiovascular system morphology
126792	B3GALT6	HP:0003083	Dislocated radial head
126792	B3GALT6	HP:0003048	Radial head subluxation
126792	B3GALT6	HP:0005678	Anterior atlanto-occipital dislocation
126792	B3GALT6	HP:0003015	Flared metaphysis
126792	B3GALT6	HP:0003016	Metaphyseal widening
126792	B3GALT6	HP:0003026	Short long bone
126792	B3GALT6	HP:0000767	Pectus excavatum
126792	B3GALT6	HP:0000768	Pectus carinatum
126792	B3GALT6	HP:0012727	Thoracic aortic aneurysm
126792	B3GALT6	HP:0000750	Delayed speech and language development
126792	B3GALT6	HP:0000703	Dentinogenesis imperfecta
126792	B3GALT6	HP:0003100	Slender long bone
126792	B3GALT6	HP:0003196	Short nose
126792	B3GALT6	HP:0000926	Platyspondyly
126792	B3GALT6	HP:0000904	Flaring of rib cage
126792	B3GALT6	HP:0004493	Craniofacial hyperostosis
126792	B3GALT6	HP:0000878	11 pairs of ribs
126792	B3GALT6	HP:0000887	Cupped ribs
126792	B3GALT6	HP:0100335	Non-midline cleft lip
126792	B3GALT6	HP:0004568	Beaking of vertebral bodies
126792	B3GALT6	HP:0030884	Gastrojejunal tube feeding in infancy
126792	B3GALT6	HP:0034392	Joint contracture
126792	B3GALT6	HP:0003272	Abnormal hip bone morphology
126792	B3GALT6	HP:0000978	Bruising susceptibility
126792	B3GALT6	HP:0000977	Soft skin
126792	B3GALT6	HP:0000974	Hyperextensible skin
126792	B3GALT6	HP:0000973	Cutis laxa
126792	B3GALT6	HP:0000963	Thin skin
126792	B3GALT6	HP:0000939	Osteoporosis
126792	B3GALT6	HP:0000938	Osteopenia
126792	B3GALT6	HP:0000946	Hypoplastic ilia
126792	B3GALT6	HP:0000944	Abnormal metaphysis morphology
126792	B3GALT6	HP:0008070	Sparse hair
126792	B3GALT6	HP:0000272	Malar flattening
126792	B3GALT6	HP:0000269	Prominent occiput
126792	B3GALT6	HP:0006439	Radioulnar dislocation
126792	B3GALT6	HP:0002827	Hip dislocation
126792	B3GALT6	HP:0002828	Multiple joint contractures
126792	B3GALT6	HP:0005037	Proximal radio-ulnar synostosis
126792	B3GALT6	HP:0000238	Hydrocephalus
126792	B3GALT6	HP:0001547	Abnormal rib cage morphology
126792	B3GALT6	HP:0000218	High palate
126792	B3GALT6	HP:0001562	Oligohydramnios
126792	B3GALT6	HP:0001561	Polyhydramnios
126792	B3GALT6	HP:0002857	Genu valgum
126792	B3GALT6	HP:0002869	Flared iliac wing
126792	B3GALT6	HP:0001508	Failure to thrive
126792	B3GALT6	HP:0030043	Hip subluxation
126792	B3GALT6	HP:0001511	Intrauterine growth retardation
126792	B3GALT6	HP:0012368	Flat face
126792	B3GALT6	HP:0012366	Basilar invagination
126792	B3GALT6	HP:0006543	Cardiorespiratory arrest
126792	B3GALT6	HP:0006532	Recurrent pneumonia
126792	B3GALT6	HP:0006522	Repeated pneumothoraces
126792	B3GALT6	HP:0006487	Bowing of the long bones
126792	B3GALT6	HP:0000365	Hearing impairment
126792	B3GALT6	HP:0000358	Posteriorly rotated ears
126792	B3GALT6	HP:0000369	Low-set ears
126792	B3GALT6	HP:0000368	Low-set, posteriorly rotated ears
126792	B3GALT6	HP:0000343	Long philtrum
126792	B3GALT6	HP:0000347	Micrognathia
126792	B3GALT6	HP:0001647	Bicuspid aortic valve
126792	B3GALT6	HP:0000316	Hypertelorism
126792	B3GALT6	HP:0002974	Radioulnar synostosis
126792	B3GALT6	HP:0002986	Radial bowing
126792	B3GALT6	HP:0002987	Elbow flexion contracture
126792	B3GALT6	HP:0001653	Mitral regurgitation
126792	B3GALT6	HP:0001629	Ventricular septal defect
126792	B3GALT6	HP:0001627	Abnormal heart morphology
126792	B3GALT6	HP:0000300	Oval face
126792	B3GALT6	HP:0001631	Atrial septal defect
126792	B3GALT6	HP:0001634	Mitral valve prolapse
126792	B3GALT6	HP:0007957	Corneal opacity
126792	B3GALT6	HP:0005280	Depressed nasal bridge
126792	B3GALT6	HP:0000482	Microcornea
126792	B3GALT6	HP:0000463	Anteverted nares
126792	B3GALT6	HP:0000473	Torticollis
126792	B3GALT6	HP:0000470	Short neck
126792	B3GALT6	HP:0001799	Short nail
126792	B3GALT6	HP:0001763	Pes planus
126792	B3GALT6	HP:0001776	Bilateral talipes equinovarus
126792	B3GALT6	HP:0000410	Mixed hearing impairment
126792	B3GALT6	HP:0001762	Talipes equinovarus
126792	B3GALT6	HP:0006703	Aplasia/Hypoplasia of the lungs
126792	B3GALT6	HP:0000518	Cataract
126792	B3GALT6	HP:0001840	Metatarsus adductus
126792	B3GALT6	HP:0001852	Sandal gap
126792	B3GALT6	HP:0000520	Proptosis
126792	B3GALT6	HP:0001822	Hallux valgus
126792	B3GALT6	HP:0000501	Glaucoma
126792	B3GALT6	HP:0000592	Blue sclerae
126792	B3GALT6	HP:0011220	Prominent forehead
126792	B3GALT6	HP:0000545	Myopia
127534	GJB4	HP:0001182	Tapered finger
127534	GJB4	HP:0001156	Brachydactyly
127534	GJB4	HP:0001249	Intellectual disability
127534	GJB4	HP:0007400	Irregular hyperpigmentation
127534	GJB4	HP:0000035	Abnormal testis morphology
127534	GJB4	HP:0000006	Autosomal dominant inheritance
127534	GJB4	HP:0002230	Generalized hirsutism
127534	GJB4	HP:0001034	Hypermelanotic macule
127534	GJB4	HP:0010783	Erythema
127534	GJB4	HP:0005588	Patchy palmoplantar hyperkeratosis
127534	GJB4	HP:0004322	Short stature
127534	GJB4	HP:0030680	Abnormality of cardiovascular system morphology
127534	GJB4	HP:0012733	Macule
127534	GJB4	HP:0000819	Diabetes mellitus
127534	GJB4	HP:0000998	Hypertrichosis
127534	GJB4	HP:0000992	Cutaneous photosensitivity
127534	GJB4	HP:0000988	Skin rash
127534	GJB4	HP:0000982	Palmoplantar keratoderma
127534	GJB4	HP:0000958	Dry skin
127534	GJB4	HP:0000962	Hyperkeratosis
127534	GJB4	HP:0008066	Abnormal blistering of the skin
127534	GJB4	HP:0008069	Neoplasm of the skin
127534	GJB4	HP:0001595	Abnormal hair morphology
127534	GJB4	HP:0001597	Abnormality of the nail
127534	GJB4	HP:0001596	Alopecia
127534	GJB4	HP:0000252	Microcephaly
127534	GJB4	HP:0000365	Hearing impairment
127534	GJB4	HP:0007957	Corneal opacity
127534	GJB4	HP:0000411	Protruding ear
127534	GJB4	HP:0000518	Cataract
127534	GJB4	HP:0001824	Weight loss
127534	GJB4	HP:0000501	Glaucoma
127833	SYT2	HP:0002460	Distal muscle weakness
127833	SYT2	HP:0002421	Poor head control
127833	SYT2	HP:0003701	Proximal muscle weakness
127833	SYT2	HP:0001270	Motor delay
127833	SYT2	HP:0001283	Bulbar palsy
127833	SYT2	HP:0001284	Areflexia
127833	SYT2	HP:0001250	Seizure
127833	SYT2	HP:0001252	Hypotonia
127833	SYT2	HP:0001251	Ataxia
127833	SYT2	HP:0001249	Intellectual disability
127833	SYT2	HP:0001265	Hyporeflexia
127833	SYT2	HP:0001260	Dysarthria
127833	SYT2	HP:0002515	Waddling gait
127833	SYT2	HP:0032341	Reduced forced vital capacity
127833	SYT2	HP:0001374	Congenital hip dislocation
127833	SYT2	HP:0001388	Joint laxity
127833	SYT2	HP:0033725	Thin corpus callosum
127833	SYT2	HP:0000007	Autosomal recessive inheritance
127833	SYT2	HP:0000006	Autosomal dominant inheritance
127833	SYT2	HP:0001308	Tongue fasciculations
127833	SYT2	HP:0001320	Cerebellar vermis hypoplasia
127833	SYT2	HP:0002650	Scoliosis
127833	SYT2	HP:0025401	Staring gaze
127833	SYT2	HP:0002751	Kyphoscoliosis
127833	SYT2	HP:0002747	Respiratory insufficiency due to muscle weakness
127833	SYT2	HP:0002021	Pyloric stenosis
127833	SYT2	HP:0002020	Gastroesophageal reflux
127833	SYT2	HP:0002033	Poor suck
127833	SYT2	HP:0004661	Frontalis muscle weakness
127833	SYT2	HP:0003325	Limb-girdle muscle weakness
127833	SYT2	HP:0002015	Dysphagia
127833	SYT2	HP:0003306	Spinal rigidity
127833	SYT2	HP:0003324	Generalized muscle weakness
127833	SYT2	HP:0005943	Respiratory arrest
127833	SYT2	HP:0002059	Cerebral atrophy
127833	SYT2	HP:0003388	Easy fatigability
127833	SYT2	HP:0003473	Fatigable weakness
127833	SYT2	HP:0003458	EMG: myopathic abnormalities
127833	SYT2	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
127833	SYT2	HP:0010536	Central sleep apnea
127833	SYT2	HP:0003577	Congenital onset
127833	SYT2	HP:0004885	Episodic respiratory distress
127833	SYT2	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
127833	SYT2	HP:0003557	Increased variability in muscle fiber diameter
127833	SYT2	HP:0002205	Recurrent respiratory infections
127833	SYT2	HP:0011968	Feeding difficulties
127833	SYT2	HP:0033383	Decreased compound muscle action potential amplitude
127833	SYT2	HP:0002392	EEG with polyspike wave complexes
127833	SYT2	HP:0003693	Distal amyotrophy
127833	SYT2	HP:0002355	Difficulty walking
127833	SYT2	HP:0007126	Proximal amyotrophy
127833	SYT2	HP:0008443	Neuropathic spinal arthropathy
127833	SYT2	HP:0007178	Motor polyneuropathy
127833	SYT2	HP:0000639	Nystagmus
127833	SYT2	HP:0000651	Diplopia
127833	SYT2	HP:0000602	Ophthalmoplegia
127833	SYT2	HP:0009053	Distal lower limb muscle weakness
127833	SYT2	HP:0009027	Foot dorsiflexor weakness
127833	SYT2	HP:0000768	Pectus carinatum
127833	SYT2	HP:0011469	Nasal regurgitation
127833	SYT2	HP:0011463	Childhood onset
127833	SYT2	HP:0011461	Fetal onset
127833	SYT2	HP:0012801	Narrow jaw
127833	SYT2	HP:0030842	Choking episodes
127833	SYT2	HP:0010307	Stridor
127833	SYT2	HP:0100285	EMG: impaired neuromuscular transmission
127833	SYT2	HP:0000961	Cyanosis
127833	SYT2	HP:0100295	Muscle fiber atrophy
127833	SYT2	HP:0000276	Long face
127833	SYT2	HP:0006466	Ankle flexion contracture
127833	SYT2	HP:0002804	Arthrogryposis multiplex congenita
127833	SYT2	HP:0006380	Knee flexion contracture
127833	SYT2	HP:0002882	Sudden episodic apnea
127833	SYT2	HP:0000218	High palate
127833	SYT2	HP:0001561	Polyhydramnios
127833	SYT2	HP:0001558	Decreased fetal movement
127833	SYT2	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
127833	SYT2	HP:0002870	Obstructive sleep apnea
127833	SYT2	HP:0001508	Failure to thrive
127833	SYT2	HP:0030051	Tip-toe gait
127833	SYT2	HP:0025680	Compound muscle action potential amplitude facilitation
127833	SYT2	HP:0030208	Anti-acetylcholine receptor antibody positivity
127833	SYT2	HP:0002936	Distal sensory impairment
127833	SYT2	HP:0001618	Dysphonia
127833	SYT2	HP:0001612	Weak cry
127833	SYT2	HP:0001611	Hypernasal speech
127833	SYT2	HP:0000365	Hearing impairment
127833	SYT2	HP:0000369	Low-set ears
127833	SYT2	HP:0001682	Subvalvular aortic stenosis
127833	SYT2	HP:0002987	Elbow flexion contracture
127833	SYT2	HP:0001621	Weak voice
127833	SYT2	HP:0001620	High pitched voice
127833	SYT2	HP:0000308	Microretrognathia
127833	SYT2	HP:0007941	Limited extraocular movements
127833	SYT2	HP:0030319	Weakness of facial musculature
127833	SYT2	HP:0000407	Sensorineural hearing impairment
127833	SYT2	HP:0001718	Mitral stenosis
127833	SYT2	HP:0000467	Neck muscle weakness
127833	SYT2	HP:0001763	Pes planus
127833	SYT2	HP:0001765	Hammertoe
127833	SYT2	HP:0001761	Pes cavus
127833	SYT2	HP:0000514	Slow saccadic eye movements
127833	SYT2	HP:0000508	Ptosis
127833	SYT2	HP:0000565	Esotropia
128178	EDARADD	HP:0001106	Periorbital hyperpigmentation
128178	EDARADD	HP:0001231	Abnormal fingernail morphology
128178	EDARADD	HP:0002561	Absent nipple
128178	EDARADD	HP:0002557	Hypoplastic nipples
128178	EDARADD	HP:0000007	Autosomal recessive inheritance
128178	EDARADD	HP:0000006	Autosomal dominant inheritance
128178	EDARADD	HP:0000164	Abnormality of the dentition
128178	EDARADD	HP:0006342	Peg-shaped maxillary lateral incisors
128178	EDARADD	HP:0006344	Abnormality of primary molar morphology
128178	EDARADD	HP:0006336	Short dental root
128178	EDARADD	HP:0006323	Premature loss of primary teeth
128178	EDARADD	HP:0007607	Hypohidrotic ectodermal dysplasia
128178	EDARADD	HP:0006297	Enamel hypoplasia
128178	EDARADD	HP:0006289	Agenesis of central incisor
128178	EDARADD	HP:0002007	Frontal bossing
128178	EDARADD	HP:0002047	Malignant hyperthermia
128178	EDARADD	HP:0002046	Heat intolerance
128178	EDARADD	HP:0002223	Absent eyebrow
128178	EDARADD	HP:0002217	Slow-growing hair
128178	EDARADD	HP:0002231	Sparse body hair
128178	EDARADD	HP:0002213	Fine hair
128178	EDARADD	HP:0002209	Sparse scalp hair
128178	EDARADD	HP:0002205	Recurrent respiratory infections
128178	EDARADD	HP:0002298	Absent hair
128178	EDARADD	HP:0002299	Brittle hair
128178	EDARADD	HP:0008388	Abnormal toenail morphology
128178	EDARADD	HP:0001000	Abnormality of skin pigmentation
128178	EDARADD	HP:0010803	Everted upper lip vermilion
128178	EDARADD	HP:0000607	Periorbital wrinkles
128178	EDARADD	HP:0000696	Delayed eruption of permanent teeth
128178	EDARADD	HP:0000698	Conical tooth
128178	EDARADD	HP:0000684	Delayed eruption of teeth
128178	EDARADD	HP:0000679	Taurodontia
128178	EDARADD	HP:0000674	Anodontia
128178	EDARADD	HP:0000677	Oligodontia
128178	EDARADD	HP:0000691	Microdontia
128178	EDARADD	HP:0000690	Agenesis of maxillary lateral incisor
128178	EDARADD	HP:0000689	Dental malocclusion
128178	EDARADD	HP:0000685	Hypoplasia of teeth
128178	EDARADD	HP:0000687	Widely spaced teeth
128178	EDARADD	HP:0000653	Sparse eyelashes
128178	EDARADD	HP:0000668	Hypodontia
128178	EDARADD	HP:0011463	Childhood onset
128178	EDARADD	HP:0045075	Sparse eyebrow
128178	EDARADD	HP:0000958	Dry skin
128178	EDARADD	HP:0000970	Anhidrosis
128178	EDARADD	HP:0000968	Ectodermal dysplasia
128178	EDARADD	HP:0000964	Eczema
128178	EDARADD	HP:0000966	Hypohidrosis
128178	EDARADD	HP:0000963	Thin skin
128178	EDARADD	HP:0008070	Sparse hair
128178	EDARADD	HP:0001595	Abnormal hair morphology
128178	EDARADD	HP:0001596	Alopecia
128178	EDARADD	HP:0000217	Xerostomia
128178	EDARADD	HP:0000232	Everted lower lip vermilion
128178	EDARADD	HP:0000202	Orofacial cleft
128178	EDARADD	HP:0011078	Abnormality of canine
128178	EDARADD	HP:0011053	Agenesis of mandibular premolar
128178	EDARADD	HP:0011051	Agenesis of premolar
128178	EDARADD	HP:0011056	Agenesis of first permanent molar tooth
128178	EDARADD	HP:0012384	Rhinitis
128178	EDARADD	HP:0005216	Impaired mastication
128178	EDARADD	HP:0006482	Abnormality of dental morphology
128178	EDARADD	HP:0005338	Sparse lateral eyebrow
128178	EDARADD	HP:0005280	Depressed nasal bridge
128178	EDARADD	HP:0012471	Thick vermilion border
128178	EDARADD	HP:0012472	Eclabion
128178	EDARADD	HP:0000457	Depressed nasal ridge
128178	EDARADD	HP:0001807	Ridged nail
128178	EDARADD	HP:0000561	Absent eyelashes
128178	EDARADD	HP:0011219	Short face
128178	EDARADD	HP:0011220	Prominent forehead
128240	NAXE	HP:0002490	Increased CSF lactate
128240	NAXE	HP:0001298	Encephalopathy
128240	NAXE	HP:0001250	Seizure
128240	NAXE	HP:0001252	Hypotonia
128240	NAXE	HP:0001251	Ataxia
128240	NAXE	HP:0001260	Dysarthria
128240	NAXE	HP:0001263	Global developmental delay
128240	NAXE	HP:0001259	Coma
128240	NAXE	HP:0003819	Death in childhood
128240	NAXE	HP:0000007	Autosomal recessive inheritance
128240	NAXE	HP:0001337	Tremor
128240	NAXE	HP:0030915	Cerebellar edema
128240	NAXE	HP:0002063	Rigidity
128240	NAXE	HP:0002151	Increased serum lactate
128240	NAXE	HP:0002119	Ventriculomegaly
128240	NAXE	HP:0011922	Abnormal activity of mitochondrial respiratory chain
128240	NAXE	HP:0002181	Cerebral edema
128240	NAXE	HP:0002196	Myelopathy
128240	NAXE	HP:0046507	Bradypnea
128240	NAXE	HP:0003593	Infantile onset
128240	NAXE	HP:0002273	Tetraparesis
128240	NAXE	HP:0002283	Global brain atrophy
128240	NAXE	HP:0002376	Developmental regression
128240	NAXE	HP:0002352	Leukoencephalopathy
128240	NAXE	HP:0003678	Rapidly progressive
128240	NAXE	HP:0002318	Cervical myelopathy
128240	NAXE	HP:0200041	Skin erosion
128240	NAXE	HP:0006897	Abducens palsy
128240	NAXE	HP:0000639	Nystagmus
128240	NAXE	HP:0000737	Irritability
128240	NAXE	HP:0012706	Elevated brain choline level by MRS
128240	NAXE	HP:0000711	Restlessness
128240	NAXE	HP:0011463	Childhood onset
128240	NAXE	HP:0012762	Cerebral white matter atrophy
128240	NAXE	HP:0003128	Lactic acidosis
128240	NAXE	HP:0002878	Respiratory failure
128240	NAXE	HP:0012378	Fatigue
128240	NAXE	HP:0032794	Myoclonic seizure
128240	NAXE	HP:0000486	Strabismus
128240	NAXE	HP:0012444	Brain atrophy
128240	NAXE	HP:0000473	Torticollis
128240	NAXE	HP:0000511	Vertical supranuclear gaze palsy
128338	DRAM2	HP:0007401	Macular atrophy
128338	DRAM2	HP:0000007	Autosomal recessive inheritance
128338	DRAM2	HP:0007663	Reduced visual acuity
128338	DRAM2	HP:0000613	Photophobia
128338	DRAM2	HP:0000662	Nyctalopia
128338	DRAM2	HP:0007703	Abnormality of retinal pigmentation
128338	DRAM2	HP:0000505	Visual impairment
128338	DRAM2	HP:0000556	Retinal dystrophy
128338	DRAM2	HP:0000551	Color vision defect
128486	FITM2	HP:0002451	Limb dystonia
128486	FITM2	HP:0007210	Lower limb amyotrophy
128486	FITM2	HP:0001270	Motor delay
128486	FITM2	HP:0001250	Seizure
128486	FITM2	HP:0001263	Global developmental delay
128486	FITM2	HP:0001371	Flexion contracture
128486	FITM2	HP:0000020	Urinary incontinence
128486	FITM2	HP:0000007	Autosomal recessive inheritance
128486	FITM2	HP:0002376	Developmental regression
128486	FITM2	HP:0031936	Delayed ability to walk
128486	FITM2	HP:0008064	Ichthyosis
128486	FITM2	HP:0000407	Sensorineural hearing impairment
128486	FITM2	HP:0001761	Pes cavus
128637	TBC1D20	HP:0010864	Intellectual disability, severe
128637	TBC1D20	HP:0001290	Generalized hypotonia
128637	TBC1D20	HP:0001272	Cerebellar atrophy
128637	TBC1D20	HP:0001250	Seizure
128637	TBC1D20	HP:0001252	Hypotonia
128637	TBC1D20	HP:0001263	Global developmental delay
128637	TBC1D20	HP:0001257	Spasticity
128637	TBC1D20	HP:0008734	Decreased testicular size
128637	TBC1D20	HP:0008736	Hypoplasia of penis
128637	TBC1D20	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
128637	TBC1D20	HP:0002540	Inability to walk
128637	TBC1D20	HP:0002510	Spastic tetraplegia
128637	TBC1D20	HP:0000064	Hypoplastic labia minora
128637	TBC1D20	HP:0000060	Clitoral hypoplasia
128637	TBC1D20	HP:0000046	Small scrotum
128637	TBC1D20	HP:0001371	Flexion contracture
128637	TBC1D20	HP:0000054	Micropenis
128637	TBC1D20	HP:0001387	Joint stiffness
128637	TBC1D20	HP:0000028	Cryptorchidism
128637	TBC1D20	HP:0008872	Feeding difficulties in infancy
128637	TBC1D20	HP:0008850	Severe postnatal growth retardation
128637	TBC1D20	HP:0001344	Absent speech
128637	TBC1D20	HP:0001339	Lissencephaly
128637	TBC1D20	HP:0000007	Autosomal recessive inheritance
128637	TBC1D20	HP:0001302	Pachygyria
128637	TBC1D20	HP:0001320	Cerebellar vermis hypoplasia
128637	TBC1D20	HP:0002650	Scoliosis
128637	TBC1D20	HP:0001317	Abnormal cerebellum morphology
128637	TBC1D20	HP:0000160	Narrow mouth
128637	TBC1D20	HP:0000126	Hydronephrosis
128637	TBC1D20	HP:0100542	Abnormal localization of kidney
128637	TBC1D20	HP:0002079	Hypoplasia of the corpus callosum
128637	TBC1D20	HP:0003487	Babinski sign
128637	TBC1D20	HP:0002120	Cerebral cortical atrophy
128637	TBC1D20	HP:0002133	Status epilepticus
128637	TBC1D20	HP:0003431	Decreased motor nerve conduction velocity
128637	TBC1D20	HP:0002187	Intellectual disability, profound
128637	TBC1D20	HP:0003577	Congenital onset
128637	TBC1D20	HP:0100704	Cerebral visual impairment
128637	TBC1D20	HP:0002230	Generalized hirsutism
128637	TBC1D20	HP:0002360	Sleep disturbance
128637	TBC1D20	HP:0001007	Hirsutism
128637	TBC1D20	HP:0009830	Peripheral neuropathy
128637	TBC1D20	HP:0000649	Abnormality of visual evoked potentials
128637	TBC1D20	HP:0000648	Optic atrophy
128637	TBC1D20	HP:0012650	Perisylvian polymicrogyria
128637	TBC1D20	HP:0004322	Short stature
128637	TBC1D20	HP:0000750	Delayed speech and language development
128637	TBC1D20	HP:0003199	Decreased muscle mass
128637	TBC1D20	HP:0003196	Short nose
128637	TBC1D20	HP:0000823	Delayed puberty
128637	TBC1D20	HP:0007703	Abnormality of retinal pigmentation
128637	TBC1D20	HP:0000294	Low anterior hairline
128637	TBC1D20	HP:0002808	Kyphosis
128637	TBC1D20	HP:0000252	Microcephaly
128637	TBC1D20	HP:0000248	Brachycephaly
128637	TBC1D20	HP:0000218	High palate
128637	TBC1D20	HP:0001511	Intrauterine growth retardation
128637	TBC1D20	HP:0000368	Low-set, posteriorly rotated ears
128637	TBC1D20	HP:0000343	Long philtrum
128637	TBC1D20	HP:0000347	Micrognathia
128637	TBC1D20	HP:0000322	Short philtrum
128637	TBC1D20	HP:0000400	Macrotia
128637	TBC1D20	HP:0000480	Retinal coloboma
128637	TBC1D20	HP:0000482	Microcornea
128637	TBC1D20	HP:0000490	Deeply set eye
128637	TBC1D20	HP:0000463	Anteverted nares
128637	TBC1D20	HP:0000431	Wide nasal bridge
128637	TBC1D20	HP:0000426	Prominent nasal bridge
128637	TBC1D20	HP:0005484	Secondary microcephaly
128637	TBC1D20	HP:0000518	Cataract
128637	TBC1D20	HP:0000519	Developmental cataract
128637	TBC1D20	HP:0000508	Ptosis
128637	TBC1D20	HP:0000505	Visual impairment
128637	TBC1D20	HP:0000501	Glaucoma
128637	TBC1D20	HP:0000568	Microphthalmia
128674	PROKR2	HP:0003782	Eunuchoid habitus
128674	PROKR2	HP:0001274	Agenesis of corpus callosum
128674	PROKR2	HP:0001288	Gait disturbance
128674	PROKR2	HP:0001250	Seizure
128674	PROKR2	HP:0001252	Hypotonia
128674	PROKR2	HP:0001251	Ataxia
128674	PROKR2	HP:0001249	Intellectual disability
128674	PROKR2	HP:0001260	Dysarthria
128674	PROKR2	HP:0001263	Global developmental delay
128674	PROKR2	HP:0002575	Tracheoesophageal fistula
128674	PROKR2	HP:0100842	Septo-optic dysplasia
128674	PROKR2	HP:0008734	Decreased testicular size
128674	PROKR2	HP:0008736	Hypoplasia of penis
128674	PROKR2	HP:0008724	Hypoplasia of the ovary
128674	PROKR2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
128674	PROKR2	HP:0003829	Typified by incomplete penetrance
128674	PROKR2	HP:0006094	Finger joint hypermobility
128674	PROKR2	HP:0000044	Hypogonadotropic hypogonadism
128674	PROKR2	HP:0000054	Micropenis
128674	PROKR2	HP:0000026	Male hypogonadism
128674	PROKR2	HP:0000028	Cryptorchidism
128674	PROKR2	HP:0000027	Azoospermia
128674	PROKR2	HP:0001331	Absent septum pellucidum
128674	PROKR2	HP:0000002	Abnormality of body height
128674	PROKR2	HP:0001324	Muscle weakness
128674	PROKR2	HP:0000013	Hypoplasia of the uterus
128674	PROKR2	HP:0000008	Abnormal morphology of female internal genitalia
128674	PROKR2	HP:0001335	Bimanual synkinesia
128674	PROKR2	HP:0001337	Tremor
128674	PROKR2	HP:0000006	Autosomal dominant inheritance
128674	PROKR2	HP:0002652	Skeletal dysplasia
128674	PROKR2	HP:0032466	Aplasia of the olfactory bulb
128674	PROKR2	HP:0000164	Abnormality of the dentition
128674	PROKR2	HP:0000175	Cleft palate
128674	PROKR2	HP:0000144	Decreased fertility
128674	PROKR2	HP:0000122	Unilateral renal agenesis
128674	PROKR2	HP:0000118	Phenotypic abnormality
128674	PROKR2	HP:0000134	Female hypogonadism
128674	PROKR2	HP:0002761	Generalized joint laxity
128674	PROKR2	HP:0002757	Recurrent fractures
128674	PROKR2	HP:0000104	Renal agenesis
128674	PROKR2	HP:0002750	Delayed skeletal maturation
128674	PROKR2	HP:0002019	Constipation
128674	PROKR2	HP:0002032	Esophageal atresia
128674	PROKR2	HP:0011755	Ectopic posterior pituitary
128674	PROKR2	HP:0008197	Absence of pubertal development
128674	PROKR2	HP:0008187	Absence of secondary sex characteristics
128674	PROKR2	HP:0010550	Paraplegia
128674	PROKR2	HP:0002231	Sparse body hair
128674	PROKR2	HP:0011961	Non-obstructive azoospermia
128674	PROKR2	HP:0010627	Anterior pituitary hypoplasia
128674	PROKR2	HP:0002360	Sleep disturbance
128674	PROKR2	HP:0008527	Congenital sensorineural hearing impairment
128674	PROKR2	HP:0009804	Tooth agenesis
128674	PROKR2	HP:0009800	Maternal diabetes
128674	PROKR2	HP:0100639	Erectile dysfunction
128674	PROKR2	HP:0000639	Nystagmus
128674	PROKR2	HP:0001943	Hypoglycemia
128674	PROKR2	HP:0001959	Polydipsia
128674	PROKR2	HP:0000609	Optic nerve hypoplasia
128674	PROKR2	HP:0000601	Hypotelorism
128674	PROKR2	HP:0004322	Short stature
128674	PROKR2	HP:0030680	Abnormality of cardiovascular system morphology
128674	PROKR2	HP:0000802	Impotence
128674	PROKR2	HP:0004374	Hemiplegia/hemiparesis
128674	PROKR2	HP:0004349	Reduced bone mineral density
128674	PROKR2	HP:0000771	Gynecomastia
128674	PROKR2	HP:0000767	Pectus excavatum
128674	PROKR2	HP:0000739	Anxiety
128674	PROKR2	HP:0000716	Depression
128674	PROKR2	HP:0000717	Autism
128674	PROKR2	HP:0000786	Primary amenorrhea
128674	PROKR2	HP:0004409	Hyposmia
128674	PROKR2	HP:0003187	Breast hypoplasia
128674	PROKR2	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
128674	PROKR2	HP:0000873	Diabetes insipidus
128674	PROKR2	HP:0000869	Secondary amenorrhea
128674	PROKR2	HP:0000864	Abnormality of the hypothalamus-pituitary axis
128674	PROKR2	HP:0000835	Adrenal hypoplasia
128674	PROKR2	HP:0000830	Anterior hypopituitarism
128674	PROKR2	HP:0000821	Hypothyroidism
128674	PROKR2	HP:0000823	Delayed puberty
128674	PROKR2	HP:0000958	Dry skin
128674	PROKR2	HP:0000966	Hypohidrosis
128674	PROKR2	HP:0000939	Osteoporosis
128674	PROKR2	HP:0000938	Osteopenia
128674	PROKR2	HP:0040171	Decreased serum testosterone concentration
128674	PROKR2	HP:0008064	Ichthyosis
128674	PROKR2	HP:0030016	Dyspareunia
128674	PROKR2	HP:0030019	Increased female libido
128674	PROKR2	HP:0001522	Death in infancy
128674	PROKR2	HP:0000204	Cleft upper lip
128674	PROKR2	HP:0001508	Failure to thrive
128674	PROKR2	HP:0001513	Obesity
128674	PROKR2	HP:0012378	Fatigue
128674	PROKR2	HP:0012385	Camptodactyly
128674	PROKR2	HP:0001608	Abnormality of the voice
128674	PROKR2	HP:0000365	Hearing impairment
128674	PROKR2	HP:0000316	Hypertelorism
128674	PROKR2	HP:0006610	Wide intermamillary distance
128674	PROKR2	HP:0000407	Sensorineural hearing impairment
128674	PROKR2	HP:0005280	Depressed nasal bridge
128674	PROKR2	HP:0000486	Strabismus
128674	PROKR2	HP:0000458	Anosmia
128674	PROKR2	HP:0001763	Pes planus
128674	PROKR2	HP:0001761	Pes cavus
128674	PROKR2	HP:0000508	Ptosis
128674	PROKR2	HP:0000505	Visual impairment
128674	PROKR2	HP:0000551	Color vision defect
128866	CHMP4B	HP:0010923	Anterior subcapsular cataract
128866	CHMP4B	HP:0000006	Autosomal dominant inheritance
128866	CHMP4B	HP:0100018	Nuclear cataract
128866	CHMP4B	HP:0007787	Posterior subcapsular cataract
128869	PIGU	HP:0010864	Intellectual disability, severe
128869	PIGU	HP:0001272	Cerebellar atrophy
128869	PIGU	HP:0001250	Seizure
128869	PIGU	HP:0001252	Hypotonia
128869	PIGU	HP:0001257	Spasticity
128869	PIGU	HP:0001382	Joint hypermobility
128869	PIGU	HP:0000007	Autosomal recessive inheritance
128869	PIGU	HP:0001320	Cerebellar vermis hypoplasia
128869	PIGU	HP:0002650	Scoliosis
128869	PIGU	HP:0001321	Cerebellar hypoplasia
128869	PIGU	HP:0000154	Wide mouth
128869	PIGU	HP:0002719	Recurrent infections
128869	PIGU	HP:0002714	Downturned corners of mouth
128869	PIGU	HP:0002079	Hypoplasia of the corpus callosum
128869	PIGU	HP:0002059	Cerebral atrophy
128869	PIGU	HP:0011712	Right bundle branch block
128869	PIGU	HP:0002188	Delayed CNS myelination
128869	PIGU	HP:0002187	Intellectual disability, profound
128869	PIGU	HP:0100704	Cerebral visual impairment
128869	PIGU	HP:0002280	Enlarged cisterna magna
128869	PIGU	HP:0003623	Neonatal onset
128869	PIGU	HP:0000639	Nystagmus
128869	PIGU	HP:0000648	Optic atrophy
128869	PIGU	HP:0011344	Severe global developmental delay
128869	PIGU	HP:0012736	Profound global developmental delay
128869	PIGU	HP:0000767	Pectus excavatum
128869	PIGU	HP:0011471	Gastrostomy tube feeding in infancy
128869	PIGU	HP:0003100	Slender long bone
128869	PIGU	HP:0003196	Short nose
128869	PIGU	HP:0003189	Long nose
128869	PIGU	HP:0003155	Elevated circulating alkaline phosphatase concentration
128869	PIGU	HP:0000998	Hypertrichosis
128869	PIGU	HP:0000938	Osteopenia
128869	PIGU	HP:0000286	Epicanthus
128869	PIGU	HP:0000276	Long face
128869	PIGU	HP:0000272	Malar flattening
128869	PIGU	HP:0000238	Hydrocephalus
128869	PIGU	HP:0000219	Thin upper lip vermilion
128869	PIGU	HP:0000218	High palate
128869	PIGU	HP:0000358	Posteriorly rotated ears
128869	PIGU	HP:0000369	Low-set ears
128869	PIGU	HP:0000341	Narrow forehead
128869	PIGU	HP:0000337	Broad forehead
128869	PIGU	HP:0000348	High forehead
128869	PIGU	HP:0000319	Smooth philtrum
128869	PIGU	HP:0000307	Pointed chin
128869	PIGU	HP:0005280	Depressed nasal bridge
128869	PIGU	HP:0000486	Strabismus
128869	PIGU	HP:0000490	Deeply set eye
128869	PIGU	HP:0000506	Telecanthus
128869	PIGU	HP:0000540	Hypermetropia
128989	TANGO2	HP:0001297	Stroke
128989	TANGO2	HP:0001290	Generalized hypotonia
128989	TANGO2	HP:0001276	Hypertonia
128989	TANGO2	HP:0001288	Gait disturbance
128989	TANGO2	HP:0001250	Seizure
128989	TANGO2	HP:0001251	Ataxia
128989	TANGO2	HP:0002579	Gastrointestinal dysmotility
128989	TANGO2	HP:0001249	Intellectual disability
128989	TANGO2	HP:0001264	Spastic diplegia
128989	TANGO2	HP:0001260	Dysarthria
128989	TANGO2	HP:0001263	Global developmental delay
128989	TANGO2	HP:0002510	Spastic tetraplegia
128989	TANGO2	HP:0001347	Hyperreflexia
128989	TANGO2	HP:0008872	Feeding difficulties in infancy
128989	TANGO2	HP:0031165	Multifocal seizures
128989	TANGO2	HP:0001332	Dystonia
128989	TANGO2	HP:0001324	Muscle weakness
128989	TANGO2	HP:0001344	Absent speech
128989	TANGO2	HP:0000007	Autosomal recessive inheritance
128989	TANGO2	HP:0008942	Acute rhabdomyolysis
128989	TANGO2	HP:0002015	Dysphagia
128989	TANGO2	HP:0002069	Bilateral tonic-clonic seizure
128989	TANGO2	HP:0002066	Gait ataxia
128989	TANGO2	HP:0002071	Abnormality of extrapyramidal motor function
128989	TANGO2	HP:0002058	Myopathic facies
128989	TANGO2	HP:0002059	Cerebral atrophy
128989	TANGO2	HP:0003487	Babinski sign
128989	TANGO2	HP:0002151	Increased serum lactate
128989	TANGO2	HP:0002123	Generalized myoclonic seizure
128989	TANGO2	HP:0003458	EMG: myopathic abnormalities
128989	TANGO2	HP:0004756	Ventricular tachycardia
128989	TANGO2	HP:0002180	Neurodegeneration
128989	TANGO2	HP:0002169	Clonus
128989	TANGO2	HP:0002173	Hypoglycemic seizures
128989	TANGO2	HP:0008223	Compensated hypothyroidism
128989	TANGO2	HP:0100704	Cerebral visual impairment
128989	TANGO2	HP:0200136	Oral-pharyngeal dysphagia
128989	TANGO2	HP:0002283	Global brain atrophy
128989	TANGO2	HP:0002384	Focal impaired awareness seizure
128989	TANGO2	HP:0002376	Developmental regression
128989	TANGO2	HP:0002370	Poor coordination
128989	TANGO2	HP:0010818	Generalized tonic seizure
128989	TANGO2	HP:0002311	Incoordination
128989	TANGO2	HP:0002307	Drooling
128989	TANGO2	HP:0006801	Hyperactive deep tendon reflexes
128989	TANGO2	HP:0000639	Nystagmus
128989	TANGO2	HP:0000646	Amblyopia
128989	TANGO2	HP:0000648	Optic atrophy
128989	TANGO2	HP:0001943	Hypoglycemia
128989	TANGO2	HP:0001942	Metabolic acidosis
128989	TANGO2	HP:0000605	Supranuclear gaze palsy
128989	TANGO2	HP:0011344	Severe global developmental delay
128989	TANGO2	HP:0011343	Moderate global developmental delay
128989	TANGO2	HP:0011342	Mild global developmental delay
128989	TANGO2	HP:0001987	Hyperammonemia
128989	TANGO2	HP:0004305	Involuntary movements
128989	TANGO2	HP:0031936	Delayed ability to walk
128989	TANGO2	HP:0000750	Delayed speech and language development
128989	TANGO2	HP:0003115	Abnormal EKG
128989	TANGO2	HP:0003128	Lactic acidosis
128989	TANGO2	HP:0000821	Hypothyroidism
128989	TANGO2	HP:0003236	Elevated circulating creatine kinase concentration
128989	TANGO2	HP:0003201	Rhabdomyolysis
128989	TANGO2	HP:0045045	Elevated circulating acylcarnitine concentration
128989	TANGO2	HP:0010314	Premature thelarche
128989	TANGO2	HP:0011675	Arrhythmia
128989	TANGO2	HP:0000252	Microcephaly
128989	TANGO2	HP:0002919	Ketonuria
128989	TANGO2	HP:0002913	Myoglobinuria
128989	TANGO2	HP:0002910	Elevated hepatic transaminase
128989	TANGO2	HP:0005184	Prolonged QTc interval
128989	TANGO2	HP:0001695	Cardiac arrest
128989	TANGO2	HP:0001664	Torsade de pointes
128989	TANGO2	HP:0001663	Ventricular fibrillation
128989	TANGO2	HP:0001657	Prolonged QT interval
128989	TANGO2	HP:0001639	Hypertrophic cardiomyopathy
128989	TANGO2	HP:0000407	Sensorineural hearing impairment
128989	TANGO2	HP:0012469	Infantile spasms
128989	TANGO2	HP:0012411	Premature pubarche
129285	PPP1R21	HP:0009937	Facial hirsutism
129285	PPP1R21	HP:0009891	Underdeveloped supraorbital ridges
129285	PPP1R21	HP:0001284	Areflexia
129285	PPP1R21	HP:0001252	Hypotonia
129285	PPP1R21	HP:0001265	Hyporeflexia
129285	PPP1R21	HP:0001260	Dysarthria
129285	PPP1R21	HP:0001263	Global developmental delay
129285	PPP1R21	HP:0002540	Inability to walk
129285	PPP1R21	HP:0001371	Flexion contracture
129285	PPP1R21	HP:0001357	Plagiocephaly
129285	PPP1R21	HP:0000007	Autosomal recessive inheritance
129285	PPP1R21	HP:0001320	Cerebellar vermis hypoplasia
129285	PPP1R21	HP:0002650	Scoliosis
129285	PPP1R21	HP:0002750	Delayed skeletal maturation
129285	PPP1R21	HP:0002033	Poor suck
129285	PPP1R21	HP:0002098	Respiratory distress
129285	PPP1R21	HP:0002066	Gait ataxia
129285	PPP1R21	HP:0002079	Hypoplasia of the corpus callosum
129285	PPP1R21	HP:0002119	Ventriculomegaly
129285	PPP1R21	HP:0010557	Overlapping fingers
129285	PPP1R21	HP:0002240	Hepatomegaly
129285	PPP1R21	HP:0002205	Recurrent respiratory infections
129285	PPP1R21	HP:0007018	Attention deficit hyperactivity disorder
129285	PPP1R21	HP:0011968	Feeding difficulties
129285	PPP1R21	HP:0002389	Cavum septum pellucidum
129285	PPP1R21	HP:0010804	Tented upper lip vermilion
129285	PPP1R21	HP:0010761	Broad columella
129285	PPP1R21	HP:0009765	Low hanging columella
129285	PPP1R21	HP:0003623	Neonatal onset
129285	PPP1R21	HP:0000648	Optic atrophy
129285	PPP1R21	HP:0011344	Severe global developmental delay
129285	PPP1R21	HP:0000768	Pectus carinatum
129285	PPP1R21	HP:0003196	Short nose
129285	PPP1R21	HP:0000286	Epicanthus
129285	PPP1R21	HP:0000280	Coarse facial features
129285	PPP1R21	HP:0000270	Delayed cranial suture closure
129285	PPP1R21	HP:0001583	Rotary nystagmus
129285	PPP1R21	HP:0000218	High palate
129285	PPP1R21	HP:0001612	Weak cry
129285	PPP1R21	HP:0000369	Low-set ears
129285	PPP1R21	HP:0000341	Narrow forehead
129285	PPP1R21	HP:0000343	Long philtrum
129285	PPP1R21	HP:0000348	High forehead
129285	PPP1R21	HP:0032794	Myoclonic seizure
129285	PPP1R21	HP:0000316	Hypertelorism
129285	PPP1R21	HP:0000331	Short chin
129285	PPP1R21	HP:0001639	Hypertrophic cardiomyopathy
129285	PPP1R21	HP:0001631	Atrial septal defect
129285	PPP1R21	HP:0012471	Thick vermilion border
129285	PPP1R21	HP:0000463	Anteverted nares
129285	PPP1R21	HP:0012450	Chronic constipation
129285	PPP1R21	HP:0000446	Narrow nasal bridge
129285	PPP1R21	HP:0000431	Wide nasal bridge
129285	PPP1R21	HP:0005469	Flat occiput
129285	PPP1R21	HP:0001845	Overlapping toe
129285	PPP1R21	HP:0000506	Telecanthus
129285	PPP1R21	HP:0000582	Upslanted palpebral fissure
129285	PPP1R21	HP:0000592	Blue sclerae
129285	PPP1R21	HP:0000574	Thick eyebrow
129285	PPP1R21	HP:0000565	Esotropia
129285	PPP1R21	HP:0012510	Extra-axial cerebrospinal fluid accumulation
129285	PPP1R21	HP:0000545	Myopia
129563	DIS3L2	HP:0008643	Nephroblastomatosis
129563	DIS3L2	HP:0001274	Agenesis of corpus callosum
129563	DIS3L2	HP:0001250	Seizure
129563	DIS3L2	HP:0002580	Volvulus
129563	DIS3L2	HP:0001252	Hypotonia
129563	DIS3L2	HP:0001249	Intellectual disability
129563	DIS3L2	HP:0001263	Global developmental delay
129563	DIS3L2	HP:0008736	Hypoplasia of penis
129563	DIS3L2	HP:0100880	Nephrogenic rest
129563	DIS3L2	HP:0008696	Renal hamartoma
129563	DIS3L2	HP:0000098	Tall stature
129563	DIS3L2	HP:0000023	Inguinal hernia
129563	DIS3L2	HP:0000028	Cryptorchidism
129563	DIS3L2	HP:0012090	Abnormal pancreas morphology
129563	DIS3L2	HP:0002664	Neoplasm
129563	DIS3L2	HP:0001328	Specific learning disability
129563	DIS3L2	HP:0000007	Autosomal recessive inheritance
129563	DIS3L2	HP:0002667	Nephroblastoma
129563	DIS3L2	HP:0000187	Broad alveolar ridges
129563	DIS3L2	HP:0000194	Open mouth
129563	DIS3L2	HP:0000177	Abnormal upper lip morphology
129563	DIS3L2	HP:0002705	High, narrow palate
129563	DIS3L2	HP:0007598	Bilateral single transverse palmar creases
129563	DIS3L2	HP:0002716	Lymphadenopathy
129563	DIS3L2	HP:0002027	Abdominal pain
129563	DIS3L2	HP:0100526	Neoplasm of the lung
129563	DIS3L2	HP:0100541	Femoral hernia
129563	DIS3L2	HP:0002133	Status epilepticus
129563	DIS3L2	HP:0002240	Hepatomegaly
129563	DIS3L2	HP:0200116	Distal ileal atresia
129563	DIS3L2	HP:0010804	Tented upper lip vermilion
129563	DIS3L2	HP:0010803	Everted upper lip vermilion
129563	DIS3L2	HP:0010733	Naevus flammeus of the eyelid
129563	DIS3L2	HP:0001943	Hypoglycemia
129563	DIS3L2	HP:0001945	Fever
129563	DIS3L2	HP:0011341	Long upper lip
129563	DIS3L2	HP:0001999	Abnormal facial shape
129563	DIS3L2	HP:0000776	Congenital diaphragmatic hernia
129563	DIS3L2	HP:0000790	Hematuria
129563	DIS3L2	HP:0003196	Short nose
129563	DIS3L2	HP:0000842	Hyperinsulinemia
129563	DIS3L2	HP:0000822	Hypertension
129563	DIS3L2	HP:0004510	Pancreatic islet-cell hyperplasia
129563	DIS3L2	HP:0003271	Visceromegaly
129563	DIS3L2	HP:0011611	Interrupted aortic arch
129563	DIS3L2	HP:0000969	Edema
129563	DIS3L2	HP:0000286	Epicanthus
129563	DIS3L2	HP:0000278	Retrognathia
129563	DIS3L2	HP:0000256	Macrocephaly
129563	DIS3L2	HP:0000268	Dolichocephaly
129563	DIS3L2	HP:0002896	Neoplasm of the liver
129563	DIS3L2	HP:0001561	Polyhydramnios
129563	DIS3L2	HP:0001541	Ascites
129563	DIS3L2	HP:0001507	Growth abnormality
129563	DIS3L2	HP:0001520	Large for gestational age
129563	DIS3L2	HP:0000391	Thickened helices
129563	DIS3L2	HP:0005247	Hypoplasia of the abdominal wall musculature
129563	DIS3L2	HP:0000358	Posteriorly rotated ears
129563	DIS3L2	HP:0000369	Low-set ears
129563	DIS3L2	HP:0000348	High forehead
129563	DIS3L2	HP:0000347	Micrognathia
129563	DIS3L2	HP:0000319	Smooth philtrum
129563	DIS3L2	HP:0000311	Round face
129563	DIS3L2	HP:0001626	Abnormality of the cardiovascular system
129563	DIS3L2	HP:0005306	Capillary hemangioma
129563	DIS3L2	HP:0005280	Depressed nasal bridge
129563	DIS3L2	HP:0000490	Deeply set eye
129563	DIS3L2	HP:0000463	Anteverted nares
129563	DIS3L2	HP:0000431	Wide nasal bridge
129563	DIS3L2	HP:0000526	Aniridia
129563	DIS3L2	HP:0001824	Weight loss
129563	DIS3L2	HP:0000508	Ptosis
129685	TAF8	HP:0001249	Intellectual disability
129685	TAF8	HP:0001263	Global developmental delay
129685	TAF8	HP:0025336	Delayed ability to sit
129685	TAF8	HP:0000007	Autosomal recessive inheritance
129685	TAF8	HP:0002191	Progressive spasticity
129685	TAF8	HP:0003593	Infantile onset
129685	TAF8	HP:0200012	Short corpus callosum
129685	TAF8	HP:0010804	Tented upper lip vermilion
129685	TAF8	HP:0011344	Severe global developmental delay
129685	TAF8	HP:0006956	Lateral ventricle dilatation
129685	TAF8	HP:0000750	Delayed speech and language development
129685	TAF8	HP:0040010	Small posterior fossa
129685	TAF8	HP:0000248	Brachycephaly
129685	TAF8	HP:0000343	Long philtrum
129685	TAF8	HP:0032989	Delayed ability to roll over
129685	TAF8	HP:0001762	Talipes equinovarus
129685	TAF8	HP:0000508	Ptosis
129880	BBS5	HP:0001156	Brachydactyly
129880	BBS5	HP:0001162	Postaxial hand polydactyly
129880	BBS5	HP:0001159	Syndactyly
129880	BBS5	HP:0001249	Intellectual disability
129880	BBS5	HP:0006101	Finger syndactyly
129880	BBS5	HP:0008736	Hypoplasia of penis
129880	BBS5	HP:0008724	Hypoplasia of the ovary
129880	BBS5	HP:0001395	Hepatic fibrosis
129880	BBS5	HP:0000054	Micropenis
129880	BBS5	HP:0000028	Cryptorchidism
129880	BBS5	HP:0000007	Autosomal recessive inheritance
129880	BBS5	HP:0000003	Multicystic kidney dysplasia
129880	BBS5	HP:0000135	Hypogonadism
129880	BBS5	HP:0007663	Reduced visual acuity
129880	BBS5	HP:0000100	Nephrotic syndrome
129880	BBS5	HP:0100543	Cognitive impairment
129880	BBS5	HP:0010442	Polydactyly
129880	BBS5	HP:0002167	Abnormality of speech or vocalization
129880	BBS5	HP:0002230	Generalized hirsutism
129880	BBS5	HP:0010747	Medial flaring of the eyebrow
129880	BBS5	HP:0000639	Nystagmus
129880	BBS5	HP:0004322	Short stature
129880	BBS5	HP:0000822	Hypertension
129880	BBS5	HP:0003241	External genital hypoplasia
129880	BBS5	HP:0003202	Skeletal muscle atrophy
129880	BBS5	HP:0007754	Macular dystrophy
129880	BBS5	HP:0001513	Obesity
129880	BBS5	HP:0000365	Hearing impairment
129880	BBS5	HP:0000368	Low-set, posteriorly rotated ears
129880	BBS5	HP:0000494	Downslanted palpebral fissures
129880	BBS5	HP:0000470	Short neck
129880	BBS5	HP:0000426	Prominent nasal bridge
129880	BBS5	HP:0000510	Rod-cone dystrophy
129880	BBS5	HP:0000512	Abnormal electroretinogram
129880	BBS5	HP:0000580	Pigmentary retinopathy
130340	AP1S3	HP:0003765	Psoriasiform dermatitis
130340	AP1S3	HP:0000006	Autosomal dominant inheritance
130340	AP1S3	HP:0008404	Nail dystrophy
130557	ZNF513	HP:0001141	Severely reduced visual acuity
130557	ZNF513	HP:0001249	Intellectual disability
130557	ZNF513	HP:0008736	Hypoplasia of penis
130557	ZNF513	HP:0001347	Hyperreflexia
130557	ZNF513	HP:0000035	Abnormal testis morphology
130557	ZNF513	HP:0000007	Autosomal recessive inheritance
130557	ZNF513	HP:0000135	Hypogonadism
130557	ZNF513	HP:0007675	Progressive night blindness
130557	ZNF513	HP:0005978	Type II diabetes mellitus
130557	ZNF513	HP:0008323	Abnormal light- and dark-adapted electroretinogram
130557	ZNF513	HP:0003621	Juvenile onset
130557	ZNF513	HP:0000639	Nystagmus
130557	ZNF513	HP:0000648	Optic atrophy
130557	ZNF513	HP:0000618	Blindness
130557	ZNF513	HP:0000613	Photophobia
130557	ZNF513	HP:0000608	Macular degeneration
130557	ZNF513	HP:0000602	Ophthalmoplegia
130557	ZNF513	HP:0000662	Nyctalopia
130557	ZNF513	HP:0000842	Hyperinsulinemia
130557	ZNF513	HP:0000987	Atypical scarring of skin
130557	ZNF513	HP:0008046	Abnormal retinal vascular morphology
130557	ZNF513	HP:0007703	Abnormality of retinal pigmentation
130557	ZNF513	HP:0007737	Bone spicule pigmentation of the retina
130557	ZNF513	HP:0001513	Obesity
130557	ZNF513	HP:0007843	Attenuation of retinal blood vessels
130557	ZNF513	HP:0007994	Peripheral visual field loss
130557	ZNF513	HP:0000407	Sensorineural hearing impairment
130557	ZNF513	HP:0000405	Conductive hearing impairment
130557	ZNF513	HP:0000463	Anteverted nares
130557	ZNF513	HP:0000431	Wide nasal bridge
130557	ZNF513	HP:0000518	Cataract
130557	ZNF513	HP:0000510	Rod-cone dystrophy
130557	ZNF513	HP:0000512	Abnormal electroretinogram
130557	ZNF513	HP:0000505	Visual impairment
130557	ZNF513	HP:0000501	Glaucoma
130557	ZNF513	HP:0000563	Keratoconus
130557	ZNF513	HP:0000543	Optic disc pallor
130589	GALM	HP:0100806	Sepsis
130589	GALM	HP:0001263	Global developmental delay
130589	GALM	HP:0001396	Cholestasis
130589	GALM	HP:0012024	Hypergalactosemia
130589	GALM	HP:0000007	Autosomal recessive inheritance
130589	GALM	HP:0001410	Decreased liver function
130589	GALM	HP:0002240	Hepatomegaly
130589	GALM	HP:0004915	Impairment of galactose metabolism
130589	GALM	HP:0000707	Abnormality of the nervous system
130589	GALM	HP:0001508	Failure to thrive
130589	GALM	HP:0012379	Abnormal circulating enzyme concentration or activity
130589	GALM	HP:0006579	Prolonged neonatal jaundice
130589	GALM	HP:0000518	Cataract
130951	M1AP	HP:0031038	Spermatogenesis maturation arrest
130951	M1AP	HP:0000027	Azoospermia
130951	M1AP	HP:0000007	Autosomal recessive inheritance
130951	M1AP	HP:0003581	Adult onset
130951	M1AP	HP:0000798	Oligospermia
130951	M1AP	HP:0003251	Male infertility
131118	DNAJC19	HP:0002470	Nonprogressive cerebellar ataxia
131118	DNAJC19	HP:0008619	Bilateral sensorineural hearing impairment
131118	DNAJC19	HP:0003700	Generalized amyotrophy
131118	DNAJC19	HP:0001256	Intellectual disability, mild
131118	DNAJC19	HP:0001250	Seizure
131118	DNAJC19	HP:0001251	Ataxia
131118	DNAJC19	HP:0008762	Repetitive compulsive behavior
131118	DNAJC19	HP:0008734	Decreased testicular size
131118	DNAJC19	HP:0008736	Hypoplasia of penis
131118	DNAJC19	HP:0007366	Atrophy/Degeneration affecting the brainstem
131118	DNAJC19	HP:0008689	Bilateral cryptorchidism
131118	DNAJC19	HP:0000051	Perineal hypospadias
131118	DNAJC19	HP:0000047	Hypospadias
131118	DNAJC19	HP:0000028	Cryptorchidism
131118	DNAJC19	HP:0008897	Postnatal growth retardation
131118	DNAJC19	HP:0001332	Dystonia
131118	DNAJC19	HP:0001324	Muscle weakness
131118	DNAJC19	HP:0000007	Autosomal recessive inheritance
131118	DNAJC19	HP:0001319	Neonatal hypotonia
131118	DNAJC19	HP:0001414	Microvesicular hepatic steatosis
131118	DNAJC19	HP:0003344	3-Methylglutaric aciduria
131118	DNAJC19	HP:0002061	Lower limb spasticity
131118	DNAJC19	HP:0002151	Increased serum lactate
131118	DNAJC19	HP:0002194	Delayed gross motor development
131118	DNAJC19	HP:0100702	Arachnoid cyst
131118	DNAJC19	HP:0003530	Elevated circulating glutaric acid concentration
131118	DNAJC19	HP:0004856	Normochromic microcytic anemia
131118	DNAJC19	HP:0003535	3-Methylglutaconic aciduria
131118	DNAJC19	HP:0004840	Hypochromic microcytic anemia
131118	DNAJC19	HP:0002376	Developmental regression
131118	DNAJC19	HP:0002345	Action tremor
131118	DNAJC19	HP:0100660	Dyskinesia
131118	DNAJC19	HP:0007146	Bilateral basal ganglia lesions
131118	DNAJC19	HP:0000648	Optic atrophy
131118	DNAJC19	HP:0001999	Abnormal facial shape
131118	DNAJC19	HP:0001998	Neonatal hypoglycemia
131118	DNAJC19	HP:0031956	Elevated circulating aspartate aminotransferase concentration
131118	DNAJC19	HP:0031964	Elevated circulating alanine aminotransferase concentration
131118	DNAJC19	HP:0012758	Neurodevelopmental delay
131118	DNAJC19	HP:0009110	Diaphragmatic eventration
131118	DNAJC19	HP:0012817	Noncompaction cardiomyopathy
131118	DNAJC19	HP:0000821	Hypothyroidism
131118	DNAJC19	HP:0011623	Muscular ventricular septal defect
131118	DNAJC19	HP:0001508	Failure to thrive
131118	DNAJC19	HP:0001511	Intrauterine growth retardation
131118	DNAJC19	HP:0001510	Growth delay
131118	DNAJC19	HP:0002910	Elevated hepatic transaminase
131118	DNAJC19	HP:0001645	Sudden cardiac death
131118	DNAJC19	HP:0001644	Dilated cardiomyopathy
131118	DNAJC19	HP:0001657	Prolonged QT interval
131118	DNAJC19	HP:0001635	Congestive heart failure
131118	DNAJC19	HP:0001631	Atrial septal defect
131377	KLHL40	HP:0001181	Adducted thumb
131377	KLHL40	HP:0003798	Nemaline bodies
131377	KLHL40	HP:0003715	Myofibrillar myopathy
131377	KLHL40	HP:0001270	Motor delay
131377	KLHL40	HP:0003803	Type 1 muscle fiber predominance
131377	KLHL40	HP:0001371	Flexion contracture
131377	KLHL40	HP:0000054	Micropenis
131377	KLHL40	HP:0000047	Hypospadias
131377	KLHL40	HP:0001349	Facial diplegia
131377	KLHL40	HP:0007514	Edema of the dorsum of hands
131377	KLHL40	HP:0001324	Muscle weakness
131377	KLHL40	HP:0000007	Autosomal recessive inheritance
131377	KLHL40	HP:0003327	Axial muscle weakness
131377	KLHL40	HP:0002015	Dysphagia
131377	KLHL40	HP:0002089	Pulmonary hypoplasia
131377	KLHL40	HP:0010628	Facial palsy
131377	KLHL40	HP:0002375	Hypokinesia
131377	KLHL40	HP:0006829	Severe muscular hypotonia
131377	KLHL40	HP:0000602	Ophthalmoplegia
131377	KLHL40	HP:0009025	Increased connective tissue
131377	KLHL40	HP:0001989	Fetal akinesia sequence
131377	KLHL40	HP:0000765	Abnormal thorax morphology
131377	KLHL40	HP:0011471	Gastrostomy tube feeding in infancy
131377	KLHL40	HP:0000775	Abnormality of the diaphragm
131377	KLHL40	HP:0000883	Thin ribs
131377	KLHL40	HP:0003202	Skeletal muscle atrophy
131377	KLHL40	HP:0005855	Multiple prenatal fractures
131377	KLHL40	HP:0002804	Arthrogryposis multiplex congenita
131377	KLHL40	HP:0000239	Large fontanelles
131377	KLHL40	HP:0002878	Respiratory failure
131377	KLHL40	HP:0001561	Polyhydramnios
131377	KLHL40	HP:0001558	Decreased fetal movement
131377	KLHL40	HP:0001522	Death in infancy
131377	KLHL40	HP:0000369	Low-set ears
131377	KLHL40	HP:0001623	Breech presentation
131377	KLHL40	HP:0001622	Premature birth
131377	KLHL40	HP:0000597	Ophthalmoparesis
131405	TRIM71	HP:0001250	Seizure
131405	TRIM71	HP:0001334	Communicating hydrocephalus
131405	TRIM71	HP:0000006	Autosomal dominant inheritance
131405	TRIM71	HP:0002119	Ventriculomegaly
131405	TRIM71	HP:0012758	Neurodevelopmental delay
131669	UROC1	HP:0010904	Abnormal circulating histidine concentration
131669	UROC1	HP:0001251	Ataxia
131669	UROC1	HP:0001260	Dysarthria
131669	UROC1	HP:0000007	Autosomal recessive inheritance
131669	UROC1	HP:0001310	Dysmetria
131669	UROC1	HP:0002719	Recurrent infections
131669	UROC1	HP:0002066	Gait ataxia
131669	UROC1	HP:0002078	Truncal ataxia
131669	UROC1	HP:0002136	Broad-based gait
131669	UROC1	HP:0002345	Action tremor
131669	UROC1	HP:0002342	Intellectual disability, moderate
131669	UROC1	HP:0006801	Hyperactive deep tendon reflexes
131669	UROC1	HP:0000639	Nystagmus
131669	UROC1	HP:0004322	Short stature
131669	UROC1	HP:0000718	Aggressive behavior
131669	UROC1	HP:0011463	Childhood onset
131669	UROC1	HP:0012237	Urocanic aciduria
131669	UROC1	HP:0007979	Gaze-evoked horizontal nystagmus
132158	GLYCTK	HP:0002448	Progressive encephalopathy
132158	GLYCTK	HP:0001298	Encephalopathy
132158	GLYCTK	HP:0001250	Seizure
132158	GLYCTK	HP:0001252	Hypotonia
132158	GLYCTK	HP:0001249	Intellectual disability
132158	GLYCTK	HP:0001263	Global developmental delay
132158	GLYCTK	HP:0001257	Spasticity
132158	GLYCTK	HP:0002521	Hypsarrhythmia
132158	GLYCTK	HP:0002510	Spastic tetraplegia
132158	GLYCTK	HP:0500230	Increased CSF glycine concentration
132158	GLYCTK	HP:0000054	Micropenis
132158	GLYCTK	HP:0001348	Brisk reflexes
132158	GLYCTK	HP:0001347	Hyperreflexia
132158	GLYCTK	HP:0000007	Autosomal recessive inheritance
132158	GLYCTK	HP:0001336	Myoclonus
132158	GLYCTK	HP:0001319	Neonatal hypotonia
132158	GLYCTK	HP:0002643	Neonatal respiratory distress
132158	GLYCTK	HP:0008947	Infantile muscular hypotonia
132158	GLYCTK	HP:0008936	Axial hypotonia
132158	GLYCTK	HP:0003355	Aminoaciduria
132158	GLYCTK	HP:0002020	Gastroesophageal reflux
132158	GLYCTK	HP:0002069	Bilateral tonic-clonic seizure
132158	GLYCTK	HP:0002079	Hypoplasia of the corpus callosum
132158	GLYCTK	HP:0002072	Chorea
132158	GLYCTK	HP:0002154	Hyperglycinemia
132158	GLYCTK	HP:0002120	Cerebral cortical atrophy
132158	GLYCTK	HP:0002133	Status epilepticus
132158	GLYCTK	HP:0002188	Delayed CNS myelination
132158	GLYCTK	HP:0002179	Opisthotonus
132158	GLYCTK	HP:0008288	Nonketotic hyperglycinemia
132158	GLYCTK	HP:0002266	Focal clonic seizure
132158	GLYCTK	HP:0100703	Tongue thrusting
132158	GLYCTK	HP:0100704	Cerebral visual impairment
132158	GLYCTK	HP:0003623	Neonatal onset
132158	GLYCTK	HP:0007185	Loss of consciousness
132158	GLYCTK	HP:0001943	Hypoglycemia
132158	GLYCTK	HP:0001942	Metabolic acidosis
132158	GLYCTK	HP:0000609	Optic nerve hypoplasia
132158	GLYCTK	HP:0011344	Severe global developmental delay
132158	GLYCTK	HP:0012736	Profound global developmental delay
132158	GLYCTK	HP:0000750	Delayed speech and language development
132158	GLYCTK	HP:0000729	Autistic behavior
132158	GLYCTK	HP:0003108	Hyperglycinuria
132158	GLYCTK	HP:0030781	Increased circulating free fatty acid level
132158	GLYCTK	HP:0000954	Single transverse palmar crease
132158	GLYCTK	HP:0000253	Progressive microcephaly
132158	GLYCTK	HP:0000252	Microcephaly
132158	GLYCTK	HP:0001508	Failure to thrive
132158	GLYCTK	HP:0001510	Growth delay
132158	GLYCTK	HP:0012379	Abnormal circulating enzyme concentration or activity
132158	GLYCTK	HP:0000365	Hearing impairment
132158	GLYCTK	HP:0001643	Patent ductus arteriosus
132158	GLYCTK	HP:0001662	Bradycardia
132158	GLYCTK	HP:0000407	Sensorineural hearing impairment
132158	GLYCTK	HP:0000490	Deeply set eye
132158	GLYCTK	HP:0012444	Brain atrophy
132884	EVC2	HP:0002488	Acute leukemia
132884	EVC2	HP:0001156	Brachydactyly
132884	EVC2	HP:0001162	Postaxial hand polydactyly
132884	EVC2	HP:0001161	Hand polydactyly
132884	EVC2	HP:0009882	Short distal phalanx of finger
132884	EVC2	HP:0001249	Intellectual disability
132884	EVC2	HP:0001231	Abnormal fingernail morphology
132884	EVC2	HP:0001241	Capitate-hamate fusion
132884	EVC2	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5
132884	EVC2	HP:0008678	Renal hypoplasia/aplasia
132884	EVC2	HP:0000077	Abnormality of the kidney
132884	EVC2	HP:0000072	Hydroureter
132884	EVC2	HP:0000069	Abnormality of the ureter
132884	EVC2	HP:0000039	Epispadias
132884	EVC2	HP:0000047	Hypospadias
132884	EVC2	HP:0000028	Cryptorchidism
132884	EVC2	HP:0008873	Disproportionate short-limb short stature
132884	EVC2	HP:0000008	Abnormal morphology of female internal genitalia
132884	EVC2	HP:0000007	Autosomal recessive inheritance
132884	EVC2	HP:0000006	Autosomal dominant inheritance
132884	EVC2	HP:0001305	Dandy-Walker malformation
132884	EVC2	HP:0002644	Abnormal pelvic girdle bone morphology
132884	EVC2	HP:0008921	Neonatal short-limb short stature
132884	EVC2	HP:0000190	Abnormal oral frenulum morphology
132884	EVC2	HP:0000164	Abnormality of the dentition
132884	EVC2	HP:0006315	Solitary median maxillary central incisor
132884	EVC2	HP:0006288	Advanced eruption of teeth
132884	EVC2	HP:0002750	Delayed skeletal maturation
132884	EVC2	HP:0002006	Facial cleft
132884	EVC2	HP:0002097	Emphysema
132884	EVC2	HP:0010454	Acetabular spurs
132884	EVC2	HP:0002164	Nail dysplasia
132884	EVC2	HP:0010557	Overlapping fingers
132884	EVC2	HP:0011830	Abnormal oral mucosa morphology
132884	EVC2	HP:0009738	Abnormal antihelix morphology
132884	EVC2	HP:0008404	Nail dystrophy
132884	EVC2	HP:0100797	Toenail dysplasia
132884	EVC2	HP:0003502	Mild short stature
132884	EVC2	HP:0008388	Abnormal toenail morphology
132884	EVC2	HP:0200055	Small hand
132884	EVC2	HP:0004209	Clinodactyly of the 5th finger
132884	EVC2	HP:0004279	Short palm
132884	EVC2	HP:0005561	Abnormality of bone marrow cell morphology
132884	EVC2	HP:0000601	Hypotelorism
132884	EVC2	HP:0011362	Abnormal hair quantity
132884	EVC2	HP:0000698	Conical tooth
132884	EVC2	HP:0000684	Delayed eruption of teeth
132884	EVC2	HP:0000695	Natal tooth
132884	EVC2	HP:0000691	Microdontia
132884	EVC2	HP:0000668	Hypodontia
132884	EVC2	HP:0030680	Abnormality of cardiovascular system morphology
132884	EVC2	HP:0003026	Short long bone
132884	EVC2	HP:0000768	Pectus carinatum
132884	EVC2	HP:0000774	Narrow chest
132884	EVC2	HP:0000773	Short ribs
132884	EVC2	HP:0000924	Abnormality of the skeletal system
132884	EVC2	HP:0000888	Horizontal ribs
132884	EVC2	HP:0011565	Common atrium
132884	EVC2	HP:0010306	Short thorax
132884	EVC2	HP:0000968	Ectodermal dysplasia
132884	EVC2	HP:0001595	Abnormal hair morphology
132884	EVC2	HP:0001597	Abnormality of the nail
132884	EVC2	HP:0006477	Abnormality of the alveolar ridges
132884	EVC2	HP:0005048	Synostosis of carpal bones
132884	EVC2	HP:0000233	Thin vermilion border
132884	EVC2	HP:0002857	Genu valgum
132884	EVC2	HP:0002866	Hypoplastic iliac wing
132884	EVC2	HP:0000204	Cleft upper lip
132884	EVC2	HP:0001508	Failure to thrive
132884	EVC2	HP:0001511	Intrauterine growth retardation
132884	EVC2	HP:0011065	Conical incisor
132884	EVC2	HP:0000395	Prominent antihelix
132884	EVC2	HP:0001696	Situs inversus totalis
132884	EVC2	HP:0002983	Micromelia
132884	EVC2	HP:0001651	Dextrocardia
132884	EVC2	HP:0001654	Abnormal heart valve morphology
132884	EVC2	HP:0001629	Ventricular septal defect
132884	EVC2	HP:0002967	Cubitus valgus
132884	EVC2	HP:0001631	Atrial septal defect
132884	EVC2	HP:0006695	Atrioventricular canal defect
132884	EVC2	HP:0000486	Strabismus
132884	EVC2	HP:0001792	Small nail
132884	EVC2	HP:0001762	Talipes equinovarus
132884	EVC2	HP:0006703	Aplasia/Hypoplasia of the lungs
132884	EVC2	HP:0001829	Foot polydactyly
132884	EVC2	HP:0001830	Postaxial foot polydactyly
132884	EVC2	HP:0001800	Hypoplastic toenails
133396	IL31RA	HP:0000006	Autosomal dominant inheritance
133396	IL31RA	HP:0000989	Pruritus
133396	IL31RA	HP:0012309	Cutaneous amyloidosis
133686	NADK2	HP:0002478	Progressive spastic quadriplegia
133686	NADK2	HP:0002490	Increased CSF lactate
133686	NADK2	HP:0002470	Nonprogressive cerebellar ataxia
133686	NADK2	HP:0002448	Progressive encephalopathy
133686	NADK2	HP:0002445	Tetraplegia
133686	NADK2	HP:0010967	Abnormal circulating carnitine concentration
133686	NADK2	HP:0002421	Poor head control
133686	NADK2	HP:0002415	Leukodystrophy
133686	NADK2	HP:0001298	Encephalopathy
133686	NADK2	HP:0001272	Cerebellar atrophy
133686	NADK2	HP:0001250	Seizure
133686	NADK2	HP:0001252	Hypotonia
133686	NADK2	HP:0001266	Choreoathetosis
133686	NADK2	HP:0001263	Global developmental delay
133686	NADK2	HP:0001257	Spasticity
133686	NADK2	HP:0500208	Increased CSF lysine concentration
133686	NADK2	HP:0003819	Death in childhood
133686	NADK2	HP:0001332	Dystonia
133686	NADK2	HP:0000007	Autosomal recessive inheritance
133686	NADK2	HP:0001319	Neonatal hypotonia
133686	NADK2	HP:0002079	Hypoplasia of the corpus callosum
133686	NADK2	HP:0002059	Cerebral atrophy
133686	NADK2	HP:0002151	Increased serum lactate
133686	NADK2	HP:0002119	Ventriculomegaly
133686	NADK2	HP:0002169	Clonus
133686	NADK2	HP:0002161	Hyperlysinemia
133686	NADK2	HP:0010536	Central sleep apnea
133686	NADK2	HP:0003593	Infantile onset
133686	NADK2	HP:0100704	Cerebral visual impairment
133686	NADK2	HP:0004897	Stress/infection-induced lactic acidosis
133686	NADK2	HP:0011951	Aspiration pneumonia
133686	NADK2	HP:0008315	Decreased plasma free carnitine
133686	NADK2	HP:0000639	Nystagmus
133686	NADK2	HP:0001947	Renal tubular acidosis
133686	NADK2	HP:0001942	Metabolic acidosis
133686	NADK2	HP:0001992	Organic aciduria
133686	NADK2	HP:0012751	Abnormal basal ganglia MRI signal intensity
133686	NADK2	HP:0003234	Decreased plasma carnitine
133686	NADK2	HP:0003206	Decreased activity of NADPH oxidase
133686	NADK2	HP:0003297	Hyperlysinuria
133686	NADK2	HP:0000252	Microcephaly
133686	NADK2	HP:0001522	Death in infancy
133686	NADK2	HP:0001508	Failure to thrive
133686	NADK2	HP:0001733	Pancreatitis
133686	NADK2	HP:0000496	Abnormality of eye movement
133686	NADK2	HP:0012547	Abnormal involuntary eye movements
134218	DNAJC21	HP:0001167	Abnormal finger morphology
134218	DNAJC21	HP:0410255	Transient neutropenia
134218	DNAJC21	HP:0410252	Chronic neutropenia
134218	DNAJC21	HP:0100806	Sepsis
134218	DNAJC21	HP:0001256	Intellectual disability, mild
134218	DNAJC21	HP:0001249	Intellectual disability
134218	DNAJC21	HP:0002594	Pancreatic hypoplasia
134218	DNAJC21	HP:0001263	Global developmental delay
134218	DNAJC21	HP:0002570	Steatorrhea
134218	DNAJC21	HP:0100840	Aplasia/Hypoplasia of the eyebrow
134218	DNAJC21	HP:0410289	Hypoamylasemia
134218	DNAJC21	HP:0003812	Phenotypic variability
134218	DNAJC21	HP:0001374	Congenital hip dislocation
134218	DNAJC21	HP:0001367	Abnormal joint morphology
134218	DNAJC21	HP:0001382	Joint hypermobility
134218	DNAJC21	HP:0000028	Cryptorchidism
134218	DNAJC21	HP:0001328	Specific learning disability
134218	DNAJC21	HP:0000007	Autosomal recessive inheritance
134218	DNAJC21	HP:0002643	Neonatal respiratory distress
134218	DNAJC21	HP:0002630	Fat malabsorption
134218	DNAJC21	HP:0000155	Oral ulcer
134218	DNAJC21	HP:0006297	Enamel hypoplasia
134218	DNAJC21	HP:0000121	Nephrocalcinosis
134218	DNAJC21	HP:0002754	Osteomyelitis
134218	DNAJC21	HP:0002750	Delayed skeletal maturation
134218	DNAJC21	HP:0002719	Recurrent infections
134218	DNAJC21	HP:0002718	Recurrent bacterial infections
134218	DNAJC21	HP:0002721	Immunodeficiency
134218	DNAJC21	HP:0003300	Ovoid vertebral bodies
134218	DNAJC21	HP:0002098	Respiratory distress
134218	DNAJC21	HP:0002090	Pneumonia
134218	DNAJC21	HP:0003375	Narrow greater sciatic notch
134218	DNAJC21	HP:0100512	Low levels of vitamin D
134218	DNAJC21	HP:0100513	Low levels of vitamin E
134218	DNAJC21	HP:0003411	Proximal femoral metaphyseal irregularity
134218	DNAJC21	HP:0011904	Persistence of hemoglobin F
134218	DNAJC21	HP:0011892	Low levels of vitamin K
134218	DNAJC21	HP:0002240	Hepatomegaly
134218	DNAJC21	HP:0008404	Nail dystrophy
134218	DNAJC21	HP:0100790	Hernia
134218	DNAJC21	HP:0004808	Acute myeloid leukemia
134218	DNAJC21	HP:0004979	Metaphyseal sclerosis
134218	DNAJC21	HP:0001000	Abnormality of skin pigmentation
134218	DNAJC21	HP:0004905	Low levels of vitamin A
134218	DNAJC21	HP:0005528	Bone marrow hypocellularity
134218	DNAJC21	HP:0005518	Increased mean corpuscular volume
134218	DNAJC21	HP:0001972	Macrocytic anemia
134218	DNAJC21	HP:0001909	Leukemia
134218	DNAJC21	HP:0001903	Anemia
134218	DNAJC21	HP:0001915	Aplastic anemia
134218	DNAJC21	HP:0000684	Delayed eruption of teeth
134218	DNAJC21	HP:0000691	Microdontia
134218	DNAJC21	HP:0000670	Carious teeth
134218	DNAJC21	HP:0000668	Hypodontia
134218	DNAJC21	HP:0001999	Abnormal facial shape
134218	DNAJC21	HP:0004322	Short stature
134218	DNAJC21	HP:0004395	Malnutrition
134218	DNAJC21	HP:0003016	Metaphyseal widening
134218	DNAJC21	HP:0003025	Metaphyseal irregularity
134218	DNAJC21	HP:0004349	Reduced bone mineral density
134218	DNAJC21	HP:0000752	Hyperactivity
134218	DNAJC21	HP:0000736	Short attention span
134218	DNAJC21	HP:0000729	Autistic behavior
134218	DNAJC21	HP:0000708	Atypical behavior
134218	DNAJC21	HP:0000705	Amelogenesis imperfecta
134218	DNAJC21	HP:0000774	Narrow chest
134218	DNAJC21	HP:0004429	Recurrent viral infections
134218	DNAJC21	HP:0000924	Abnormality of the skeletal system
134218	DNAJC21	HP:0000920	Enlargement of the costochondral junction
134218	DNAJC21	HP:0000907	Anterior rib cupping
134218	DNAJC21	HP:0000886	Deformed rib cage
134218	DNAJC21	HP:0000819	Diabetes mellitus
134218	DNAJC21	HP:0000824	Decreased response to growth hormone stimulation test
134218	DNAJC21	HP:0040075	Hypopituitarism
134218	DNAJC21	HP:0005871	Metaphyseal chondrodysplasia
134218	DNAJC21	HP:0040238	Impaired neutrophil chemotaxis
134218	DNAJC21	HP:0045027	Abnormality of the thoracic cavity
134218	DNAJC21	HP:0100255	Metaphyseal dysplasia
134218	DNAJC21	HP:0000988	Skin rash
134218	DNAJC21	HP:0000964	Eczema
134218	DNAJC21	HP:0000962	Hyperkeratosis
134218	DNAJC21	HP:0000938	Osteopenia
134218	DNAJC21	HP:0008070	Sparse hair
134218	DNAJC21	HP:0008064	Ichthyosis
134218	DNAJC21	HP:0000286	Epicanthus
134218	DNAJC21	HP:0006461	Proximal femoral epiphysiolysis
134218	DNAJC21	HP:0002812	Coxa vara
134218	DNAJC21	HP:0000252	Microcephaly
134218	DNAJC21	HP:0000246	Sinusitis
134218	DNAJC21	HP:0012202	Increased serum bile acid concentration
134218	DNAJC21	HP:0002863	Myelodysplasia
134218	DNAJC21	HP:0001508	Failure to thrive
134218	DNAJC21	HP:0001518	Small for gestational age
134218	DNAJC21	HP:0001511	Intrauterine growth retardation
134218	DNAJC21	HP:0001510	Growth delay
134218	DNAJC21	HP:0000378	Cupped ear
134218	DNAJC21	HP:0006598	Irregular ossification at anterior rib ends
134218	DNAJC21	HP:0002910	Elevated hepatic transaminase
134218	DNAJC21	HP:0000365	Hearing impairment
134218	DNAJC21	HP:0011024	Abnormality of the gastrointestinal tract
134218	DNAJC21	HP:0000356	Abnormality of the outer ear
134218	DNAJC21	HP:0000347	Micrognathia
134218	DNAJC21	HP:0000316	Hypertelorism
134218	DNAJC21	HP:0001627	Abnormal heart morphology
134218	DNAJC21	HP:0002953	Vertebral compression fracture
134218	DNAJC21	HP:0001738	Exocrine pancreatic insufficiency
134218	DNAJC21	HP:0001700	Myocardial necrosis
134218	DNAJC21	HP:0000483	Astigmatism
134218	DNAJC21	HP:0000494	Downslanted palpebral fissures
134218	DNAJC21	HP:0001792	Small nail
134218	DNAJC21	HP:0000556	Retinal dystrophy
134218	DNAJC21	HP:0001897	Normocytic anemia
134218	DNAJC21	HP:0001871	Abnormality of blood and blood-forming tissues
134218	DNAJC21	HP:0000540	Hypermetropia
134218	DNAJC21	HP:0001882	Leukopenia
134218	DNAJC21	HP:0001873	Thrombocytopenia
134218	DNAJC21	HP:0001876	Pancytopenia
134218	DNAJC21	HP:0000545	Myopia
134218	DNAJC21	HP:0001875	Neutropenia
134353	LSM11	HP:0007256	Abnormal pyramidal sign
134353	LSM11	HP:0002415	Leukodystrophy
134353	LSM11	HP:0001276	Hypertonia
134353	LSM11	HP:0001250	Seizure
134353	LSM11	HP:0001263	Global developmental delay
134353	LSM11	HP:0001257	Spasticity
134353	LSM11	HP:0002514	Cerebral calcification
134353	LSM11	HP:0002510	Spastic tetraplegia
134353	LSM11	HP:0002500	Abnormal cerebral white matter morphology
134353	LSM11	HP:0001369	Arthritis
134353	LSM11	HP:0000054	Micropenis
134353	LSM11	HP:0000050	Hypoplastic male external genitalia
134353	LSM11	HP:0001357	Plagiocephaly
134353	LSM11	HP:0001332	Dystonia
134353	LSM11	HP:0000007	Autosomal recessive inheritance
134353	LSM11	HP:0001337	Tremor
134353	LSM11	HP:0002650	Scoliosis
134353	LSM11	HP:0008936	Axial hypotonia
134353	LSM11	HP:0001433	Hepatosplenomegaly
134353	LSM11	HP:0002079	Hypoplasia of the corpus callosum
134353	LSM11	HP:0002071	Abnormality of extrapyramidal motor function
134353	LSM11	HP:0002059	Cerebral atrophy
134353	LSM11	HP:0100578	Lipoatrophy
134353	LSM11	HP:0002139	Arrhinencephaly
134353	LSM11	HP:0002119	Ventriculomegaly
134353	LSM11	HP:0002135	Basal ganglia calcification
134353	LSM11	HP:0002132	Porencephalic cyst
134353	LSM11	HP:0002187	Intellectual disability, profound
134353	LSM11	HP:0011834	Moyamoya phenomenon
134353	LSM11	HP:0003577	Congenital onset
134353	LSM11	HP:0003552	Muscle stiffness
134353	LSM11	HP:0009709	Increased CSF interferon alpha
134353	LSM11	HP:0009710	Chilblains
134353	LSM11	HP:0009704	Chronic CSF lymphocytosis
134353	LSM11	HP:0004809	Neonatal alloimmune thrombocytopenia
134353	LSM11	HP:0007076	Extrapyramidal muscular rigidity
134353	LSM11	HP:0007052	Multifocal cerebral white matter abnormalities
134353	LSM11	HP:0001063	Acrocyanosis
134353	LSM11	HP:0002376	Developmental regression
134353	LSM11	HP:0002371	Loss of speech
134353	LSM11	HP:0002355	Difficulty walking
134353	LSM11	HP:0002315	Headache
134353	LSM11	HP:0002313	Spastic paraparesis
134353	LSM11	HP:0100614	Myositis
134353	LSM11	HP:0001087	Developmental glaucoma
134353	LSM11	HP:0007108	Demyelinating peripheral neuropathy
134353	LSM11	HP:0004963	Calcification of the aorta
134353	LSM11	HP:0004942	Aortic aneurysm
134353	LSM11	HP:0005550	Chronic lymphatic leukemia
134353	LSM11	HP:0000639	Nystagmus
134353	LSM11	HP:0001955	Unexplained fevers
134353	LSM11	HP:0000625	Eyelid coloboma
134353	LSM11	HP:0011344	Severe global developmental delay
134353	LSM11	HP:0004322	Short stature
134353	LSM11	HP:0004374	Hemiplegia/hemiparesis
134353	LSM11	HP:0000737	Irritability
134353	LSM11	HP:0000819	Diabetes mellitus
134353	LSM11	HP:0000821	Hypothyroidism
134353	LSM11	HP:0030880	Raynaud phenomenon
134353	LSM11	HP:0000958	Dry skin
134353	LSM11	HP:0000965	Cutis marmorata
134353	LSM11	HP:0040140	Degeneration of the striatum
134353	LSM11	HP:0002828	Multiple joint contractures
134353	LSM11	HP:0012229	CSF pleocytosis
134353	LSM11	HP:0000252	Microcephaly
134353	LSM11	HP:0030038	Enchondroma
134353	LSM11	HP:0006579	Prolonged neonatal jaundice
134353	LSM11	HP:0001609	Hoarse voice
134353	LSM11	HP:0002910	Elevated hepatic transaminase
134353	LSM11	HP:0000369	Low-set ears
134353	LSM11	HP:0002960	Autoimmunity
134353	LSM11	HP:0001640	Cardiomegaly
134353	LSM11	HP:0001639	Hypertrophic cardiomyopathy
134353	LSM11	HP:0012490	Panniculitis
134353	LSM11	HP:0000496	Abnormality of eye movement
134353	LSM11	HP:0012444	Brain atrophy
134353	LSM11	HP:0000444	Convex nasal ridge
134353	LSM11	HP:0000508	Ptosis
134353	LSM11	HP:0000501	Glaucoma
134353	LSM11	HP:0030356	Increased circulating interferon-gamma concentration
134430	WDR36	HP:0012108	Open angle glaucoma
134701	RIPPLY2	HP:0002435	Meningocele
134701	RIPPLY2	HP:0001249	Intellectual disability
134701	RIPPLY2	HP:0006101	Finger syndactyly
134701	RIPPLY2	HP:0010978	Abnormality of immune system physiology
134701	RIPPLY2	HP:0000069	Abnormality of the ureter
134701	RIPPLY2	HP:0000047	Hypospadias
134701	RIPPLY2	HP:0000023	Inguinal hernia
134701	RIPPLY2	HP:0000028	Cryptorchidism
134701	RIPPLY2	HP:0000008	Abnormal morphology of female internal genitalia
134701	RIPPLY2	HP:0000007	Autosomal recessive inheritance
134701	RIPPLY2	HP:0002650	Scoliosis
134701	RIPPLY2	HP:0000175	Cleft palate
134701	RIPPLY2	HP:0003312	Abnormal form of the vertebral bodies
134701	RIPPLY2	HP:0003316	Butterfly vertebrae
134701	RIPPLY2	HP:0002093	Respiratory insufficiency
134701	RIPPLY2	HP:0100589	Urogenital fistula
134701	RIPPLY2	HP:0003422	Vertebral segmentation defect
134701	RIPPLY2	HP:0003416	Spinal canal stenosis
134701	RIPPLY2	HP:0100490	Camptodactyly of finger
134701	RIPPLY2	HP:0010772	Anomalous pulmonary venous return
134701	RIPPLY2	HP:0004322	Short stature
134701	RIPPLY2	HP:0030680	Abnormality of cardiovascular system morphology
134701	RIPPLY2	HP:0000772	Abnormal rib morphology
134701	RIPPLY2	HP:0000776	Congenital diaphragmatic hernia
134701	RIPPLY2	HP:0000902	Rib fusion
134701	RIPPLY2	HP:0003298	Spina bifida occulta
134701	RIPPLY2	HP:0010306	Short thorax
134701	RIPPLY2	HP:0000256	Macrocephaly
134701	RIPPLY2	HP:0000269	Prominent occiput
134701	RIPPLY2	HP:0005108	Abnormal intervertebral disk morphology
134701	RIPPLY2	HP:0002808	Kyphosis
134701	RIPPLY2	HP:0000252	Microcephaly
134701	RIPPLY2	HP:0001537	Umbilical hernia
134701	RIPPLY2	HP:0001511	Intrauterine growth retardation
134701	RIPPLY2	HP:0002937	Hemivertebrae
134701	RIPPLY2	HP:0002947	Cervical kyphosis
134701	RIPPLY2	HP:0000368	Low-set, posteriorly rotated ears
134701	RIPPLY2	HP:0000343	Long philtrum
134701	RIPPLY2	HP:0000337	Broad forehead
134701	RIPPLY2	HP:0006655	Rib segmentation abnormalities
134701	RIPPLY2	HP:0005280	Depressed nasal bridge
134701	RIPPLY2	HP:0000463	Anteverted nares
134701	RIPPLY2	HP:0000470	Short neck
135228	CD109	HP:0008619	Bilateral sensorineural hearing impairment
135228	CD109	HP:0001263	Global developmental delay
135228	CD109	HP:0007420	Spontaneous hematomas
135228	CD109	HP:0002138	Subarachnoid hemorrhage
135228	CD109	HP:0002170	Intracranial hemorrhage
135228	CD109	HP:0002239	Gastrointestinal hemorrhage
135228	CD109	HP:0002249	Melena
135228	CD109	HP:0004809	Neonatal alloimmune thrombocytopenia
135228	CD109	HP:0000618	Blindness
135228	CD109	HP:0100021	Cerebral palsy
135228	CD109	HP:0000707	Abnormality of the nervous system
135228	CD109	HP:0000790	Hematuria
135228	CD109	HP:0000979	Purpura
135228	CD109	HP:0000967	Petechiae
135228	CD109	HP:0031364	Ecchymosis
135228	CD109	HP:0001892	Abnormal bleeding
135228	CD109	HP:0012541	Cephalohematoma
135886	TMEM270	HP:0001181	Adducted thumb
135886	TMEM270	HP:0001136	Retinal arteriolar tortuosity
135886	TMEM270	HP:0010880	Increased nuchal translucency
135886	TMEM270	HP:0001297	Stroke
135886	TMEM270	HP:0100817	Renovascular hypertension
135886	TMEM270	HP:0001288	Gait disturbance
135886	TMEM270	HP:0001252	Hypotonia
135886	TMEM270	HP:0001251	Ataxia
135886	TMEM270	HP:0001249	Intellectual disability
135886	TMEM270	HP:0001260	Dysarthria
135886	TMEM270	HP:0001257	Spasticity
135886	TMEM270	HP:0001231	Abnormal fingernail morphology
135886	TMEM270	HP:0002575	Tracheoesophageal fistula
135886	TMEM270	HP:0008736	Hypoplasia of penis
135886	TMEM270	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
135886	TMEM270	HP:0008661	Urethral stenosis
135886	TMEM270	HP:0000089	Renal hypoplasia
135886	TMEM270	HP:0000083	Renal insufficiency
135886	TMEM270	HP:0000093	Proteinuria
135886	TMEM270	HP:0000076	Vesicoureteral reflux
135886	TMEM270	HP:0000075	Renal duplication
135886	TMEM270	HP:0000044	Hypogonadotropic hypogonadism
135886	TMEM270	HP:0001388	Joint laxity
135886	TMEM270	HP:0001387	Joint stiffness
135886	TMEM270	HP:0000023	Inguinal hernia
135886	TMEM270	HP:0000015	Bladder diverticulum
135886	TMEM270	HP:0000014	Abnormality of the bladder
135886	TMEM270	HP:0001347	Hyperreflexia
135886	TMEM270	HP:0001361	Nystagmus-induced head nodding
135886	TMEM270	HP:0000025	Functional abnormality of male internal genitalia
135886	TMEM270	HP:0000028	Cryptorchidism
135886	TMEM270	HP:0007495	Prematurely aged appearance
135886	TMEM270	HP:0007477	Abnormal dermatoglyphics
135886	TMEM270	HP:0000010	Recurrent urinary tract infections
135886	TMEM270	HP:0001337	Tremor
135886	TMEM270	HP:0001310	Dysmetria
135886	TMEM270	HP:0002637	Cerebral ischemia
135886	TMEM270	HP:0002650	Scoliosis
135886	TMEM270	HP:0002644	Abnormal pelvic girdle bone morphology
135886	TMEM270	HP:0002623	Overriding aorta
135886	TMEM270	HP:0000179	Thick lower lip vermilion
135886	TMEM270	HP:0000158	Macroglossia
135886	TMEM270	HP:0000154	Wide mouth
135886	TMEM270	HP:0000147	Polycystic ovaries
135886	TMEM270	HP:0000121	Nephrocalcinosis
135886	TMEM270	HP:0000125	Pelvic kidney
135886	TMEM270	HP:0002750	Delayed skeletal maturation
135886	TMEM270	HP:0002024	Malabsorption
135886	TMEM270	HP:0002020	Gastroesophageal reflux
135886	TMEM270	HP:0002019	Constipation
135886	TMEM270	HP:0002017	Nausea and vomiting
135886	TMEM270	HP:0002035	Rectal prolapse
135886	TMEM270	HP:0002027	Abdominal pain
135886	TMEM270	HP:0003312	Abnormal form of the vertebral bodies
135886	TMEM270	HP:0003307	Hyperlordosis
135886	TMEM270	HP:0005978	Type II diabetes mellitus
135886	TMEM270	HP:0100539	Periorbital edema
135886	TMEM270	HP:0100545	Arterial stenosis
135886	TMEM270	HP:0002071	Abnormality of extrapyramidal motor function
135886	TMEM270	HP:0002141	Gait imbalance
135886	TMEM270	HP:0002150	Hypercalciuria
135886	TMEM270	HP:0002120	Cerebral cortical atrophy
135886	TMEM270	HP:0003422	Vertebral segmentation defect
135886	TMEM270	HP:0002183	Phonophobia
135886	TMEM270	HP:0002167	Abnormality of speech or vocalization
135886	TMEM270	HP:0010526	Dysgraphia
135886	TMEM270	HP:0002253	Colonic diverticula
135886	TMEM270	HP:0002205	Recurrent respiratory infections
135886	TMEM270	HP:0100785	Insomnia
135886	TMEM270	HP:0010662	Abnormality of the diencephalon
135886	TMEM270	HP:0010669	Hypoplasia of the zygomatic bone
135886	TMEM270	HP:0007018	Attention deficit hyperactivity disorder
135886	TMEM270	HP:0001052	Nevus flammeus
135886	TMEM270	HP:0002376	Developmental regression
135886	TMEM270	HP:0200021	Down-sloping shoulders
135886	TMEM270	HP:0100659	Abnormal cerebral vascular morphology
135886	TMEM270	HP:0010807	Open bite
135886	TMEM270	HP:0100613	Death in early adulthood
135886	TMEM270	HP:0001081	Cholelithiasis
135886	TMEM270	HP:0008499	High hypermetropia
135886	TMEM270	HP:0010780	Hyperacusis
135886	TMEM270	HP:0002308	Chiari malformation
135886	TMEM270	HP:0004969	Peripheral pulmonary artery stenosis
135886	TMEM270	HP:0004209	Clinodactyly of the 5th finger
135886	TMEM270	HP:0004295	Abnormal gastric mucosa morphology
135886	TMEM270	HP:0005562	Multiple renal cysts
135886	TMEM270	HP:0001969	Abnormal tubulointerstitial morphology
135886	TMEM270	HP:0000635	Blue irides
135886	TMEM270	HP:0000632	Lacrimation abnormality
135886	TMEM270	HP:0000627	Posterior embryotoxon
135886	TMEM270	HP:0000682	Abnormal dental enamel morphology
135886	TMEM270	HP:0000691	Microdontia
135886	TMEM270	HP:0000689	Dental malocclusion
135886	TMEM270	HP:0000670	Carious teeth
135886	TMEM270	HP:0012639	Abnormal nervous system morphology
135886	TMEM270	HP:0000668	Hypodontia
135886	TMEM270	HP:0004322	Short stature
135886	TMEM270	HP:0004306	Abnormal endocardium morphology
135886	TMEM270	HP:0004305	Involuntary movements
135886	TMEM270	HP:0003072	Hypercalcemia
135886	TMEM270	HP:0004381	Supravalvular aortic stenosis
135886	TMEM270	HP:0004398	Peptic ulcer
135886	TMEM270	HP:0005692	Joint hyperflexibility
135886	TMEM270	HP:0003028	Abnormality of the ankle
135886	TMEM270	HP:0100025	Overfriendliness
135886	TMEM270	HP:0000767	Pectus excavatum
135886	TMEM270	HP:0000739	Anxiety
135886	TMEM270	HP:0000716	Depression
135886	TMEM270	HP:0000717	Autism
135886	TMEM270	HP:0000722	Compulsive behaviors
135886	TMEM270	HP:0000787	Nephrolithiasis
135886	TMEM270	HP:0003119	Abnormal circulating lipid concentration
135886	TMEM270	HP:0004428	Elfin facies
135886	TMEM270	HP:0003198	Myopathy
135886	TMEM270	HP:0003196	Short nose
135886	TMEM270	HP:0000826	Precocious puberty
135886	TMEM270	HP:0000822	Hypertension
135886	TMEM270	HP:0000821	Hypothyroidism
135886	TMEM270	HP:0003236	Elevated circulating creatine kinase concentration
135886	TMEM270	HP:0003298	Spina bifida occulta
135886	TMEM270	HP:0000960	Sacral dimple
135886	TMEM270	HP:0000939	Osteoporosis
135886	TMEM270	HP:0000938	Osteopenia
135886	TMEM270	HP:0100240	Synostosis of joints
135886	TMEM270	HP:0008053	Aplasia/Hypoplasia of the iris
135886	TMEM270	HP:0007720	Flat cornea
135886	TMEM270	HP:0000286	Epicanthus
135886	TMEM270	HP:0000280	Coarse facial features
135886	TMEM270	HP:0000275	Narrow face
135886	TMEM270	HP:0005113	Aortic arch aneurysm
135886	TMEM270	HP:0002829	Arthralgia
135886	TMEM270	HP:0002808	Kyphosis
135886	TMEM270	HP:0000252	Microcephaly
135886	TMEM270	HP:0001582	Redundant skin
135886	TMEM270	HP:0000212	Gingival overgrowth
135886	TMEM270	HP:0000232	Everted lower lip vermilion
135886	TMEM270	HP:0001531	Failure to thrive in infancy
135886	TMEM270	HP:0002857	Genu valgum
135886	TMEM270	HP:0001537	Umbilical hernia
135886	TMEM270	HP:0001513	Obesity
135886	TMEM270	HP:0000389	Chronic otitis media
135886	TMEM270	HP:0001609	Hoarse voice
135886	TMEM270	HP:0001608	Abnormality of the voice
135886	TMEM270	HP:0001618	Dysphonia
135886	TMEM270	HP:0006482	Abnormality of dental morphology
135886	TMEM270	HP:0000368	Low-set, posteriorly rotated ears
135886	TMEM270	HP:0001671	Abnormal cardiac septum morphology
135886	TMEM270	HP:0000343	Long philtrum
135886	TMEM270	HP:0011001	Increased bone mineral density
135886	TMEM270	HP:0000337	Broad forehead
135886	TMEM270	HP:0002999	Patellar dislocation
135886	TMEM270	HP:0000348	High forehead
135886	TMEM270	HP:0000347	Micrognathia
135886	TMEM270	HP:0001647	Bicuspid aortic valve
135886	TMEM270	HP:0001643	Patent ductus arteriosus
135886	TMEM270	HP:0001642	Pulmonic stenosis
135886	TMEM270	HP:0001645	Sudden cardiac death
135886	TMEM270	HP:0002974	Radioulnar synostosis
135886	TMEM270	HP:0001658	Myocardial infarction
135886	TMEM270	HP:0001653	Mitral regurgitation
135886	TMEM270	HP:0001629	Ventricular septal defect
135886	TMEM270	HP:0001626	Abnormality of the cardiovascular system
135886	TMEM270	HP:0001640	Cardiomegaly
135886	TMEM270	HP:0001639	Hypertrophic cardiomyopathy
135886	TMEM270	HP:0001636	Tetralogy of Fallot
135886	TMEM270	HP:0001635	Congestive heart failure
135886	TMEM270	HP:0000307	Pointed chin
135886	TMEM270	HP:0001631	Atrial septal defect
135886	TMEM270	HP:0001634	Mitral valve prolapse
135886	TMEM270	HP:0007957	Corneal opacity
135886	TMEM270	HP:0005344	Abnormal carotid artery morphology
135886	TMEM270	HP:0000407	Sensorineural hearing impairment
135886	TMEM270	HP:0000400	Macrotia
135886	TMEM270	HP:0000486	Strabismus
135886	TMEM270	HP:0000485	Megalocornea
135886	TMEM270	HP:0000464	Abnormality of the neck
135886	TMEM270	HP:0012433	Abnormal social behavior
135886	TMEM270	HP:0001763	Pes planus
135886	TMEM270	HP:0000411	Protruding ear
135886	TMEM270	HP:0000431	Wide nasal bridge
135886	TMEM270	HP:0000518	Cataract
135886	TMEM270	HP:0001822	Hallux valgus
135886	TMEM270	HP:0000505	Visual impairment
135886	TMEM270	HP:0000501	Glaucoma
135886	TMEM270	HP:0001800	Hypoplastic toenails
135886	TMEM270	HP:0000581	Blepharophimosis
135886	TMEM270	HP:0000545	Myopia
135935	NOBOX	HP:0008724	Hypoplasia of the ovary
135935	NOBOX	HP:0000006	Autosomal dominant inheritance
135935	NOBOX	HP:0010464	Streak ovary
135935	NOBOX	HP:0008209	Premature ovarian insufficiency
135935	NOBOX	HP:0000786	Primary amenorrhea
135935	NOBOX	HP:0000869	Secondary amenorrhea
135935	NOBOX	HP:0033085	Reduced antral follicle count
136371	ASB10	HP:0000006	Autosomal dominant inheritance
136371	ASB10	HP:0012108	Open angle glaucoma
136371	ASB10	HP:0012796	Increased cup-to-disc ratio
136371	ASB10	HP:0007854	Glaucomatous visual field defect
136371	ASB10	HP:0007906	Ocular hypertension
136647	MPLKIP	HP:0008619	Bilateral sensorineural hearing impairment
136647	MPLKIP	HP:0001197	Abnormality of prenatal development or birth
136647	MPLKIP	HP:0410219	Hypoplasia of mandible relative to maxilla
136647	MPLKIP	HP:0007266	Cerebral dysmyelination
136647	MPLKIP	HP:0007256	Abnormal pyramidal sign
136647	MPLKIP	HP:0009886	Trichorrhexis nodosa
136647	MPLKIP	HP:0001290	Generalized hypotonia
136647	MPLKIP	HP:0001276	Hypertonia
136647	MPLKIP	HP:0001249	Intellectual disability
136647	MPLKIP	HP:0001265	Hyporeflexia
136647	MPLKIP	HP:0001260	Dysarthria
136647	MPLKIP	HP:0001263	Global developmental delay
136647	MPLKIP	HP:0001257	Spasticity
136647	MPLKIP	HP:0002562	Low-set nipples
136647	MPLKIP	HP:0007381	Congenital exfoliative erythroderma
136647	MPLKIP	HP:0001217	Clubbing
136647	MPLKIP	HP:0001373	Joint dislocation
136647	MPLKIP	HP:0001363	Craniosynostosis
136647	MPLKIP	HP:0000028	Cryptorchidism
136647	MPLKIP	HP:0007495	Prematurely aged appearance
136647	MPLKIP	HP:0007485	Absence of subcutaneous fat
136647	MPLKIP	HP:0001338	Partial agenesis of the corpus callosum
136647	MPLKIP	HP:0000007	Autosomal recessive inheritance
136647	MPLKIP	HP:0000144	Decreased fertility
136647	MPLKIP	HP:0025428	Bronchospasm
136647	MPLKIP	HP:0007633	Bilateral microphthalmos
136647	MPLKIP	HP:0002705	High, narrow palate
136647	MPLKIP	HP:0006297	Enamel hypoplasia
136647	MPLKIP	HP:0007587	Numerous pigmented freckles
136647	MPLKIP	HP:0000133	Gonadal dysgenesis
136647	MPLKIP	HP:0002750	Delayed skeletal maturation
136647	MPLKIP	HP:0002719	Recurrent infections
136647	MPLKIP	HP:0002080	Intention tremor
136647	MPLKIP	HP:0002066	Gait ataxia
136647	MPLKIP	HP:0002120	Cerebral cortical atrophy
136647	MPLKIP	HP:0002119	Ventriculomegaly
136647	MPLKIP	HP:0002197	Generalized-onset seizure
136647	MPLKIP	HP:0002164	Nail dysplasia
136647	MPLKIP	HP:0010551	Paraplegia/paraparesis
136647	MPLKIP	HP:0002224	Woolly hair
136647	MPLKIP	HP:0002209	Sparse scalp hair
136647	MPLKIP	HP:0010719	Abnormality of hair texture
136647	MPLKIP	HP:0008404	Nail dystrophy
136647	MPLKIP	HP:0002299	Brittle hair
136647	MPLKIP	HP:0002293	Alopecia of scalp
136647	MPLKIP	HP:0007034	Generalized hyperreflexia
136647	MPLKIP	HP:0008391	Dystrophic fingernails
136647	MPLKIP	HP:0008386	Aplasia/Hypoplasia of the nails
136647	MPLKIP	HP:0009830	Peripheral neuropathy
136647	MPLKIP	HP:0001097	Keratoconjunctivitis sicca
136647	MPLKIP	HP:0006829	Severe muscular hypotonia
136647	MPLKIP	HP:0000639	Nystagmus
136647	MPLKIP	HP:0000648	Optic atrophy
136647	MPLKIP	HP:0000613	Photophobia
136647	MPLKIP	HP:0000608	Macular degeneration
136647	MPLKIP	HP:0000601	Hypotelorism
136647	MPLKIP	HP:0001903	Anemia
136647	MPLKIP	HP:0000685	Hypoplasia of teeth
136647	MPLKIP	HP:0000656	Ectropion
136647	MPLKIP	HP:0000653	Sparse eyelashes
136647	MPLKIP	HP:0000670	Carious teeth
136647	MPLKIP	HP:0006970	Periventricular leukomalacia
136647	MPLKIP	HP:0003079	Defective DNA repair after ultraviolet radiation damage
136647	MPLKIP	HP:0012760	Reduced social reciprocity
136647	MPLKIP	HP:0003196	Short nose
136647	MPLKIP	HP:0003139	Panhypogammaglobulinemia
136647	MPLKIP	HP:0045055	Tiger tail banding
136647	MPLKIP	HP:0100275	Diffuse cerebellar atrophy
136647	MPLKIP	HP:0000992	Cutaneous photosensitivity
136647	MPLKIP	HP:0000958	Dry skin
136647	MPLKIP	HP:0000964	Eczema
136647	MPLKIP	HP:0000938	Osteopenia
136647	MPLKIP	HP:0008070	Sparse hair
136647	MPLKIP	HP:0008064	Ichthyosis
136647	MPLKIP	HP:0000286	Epicanthus
136647	MPLKIP	HP:0000280	Coarse facial features
136647	MPLKIP	HP:0000278	Retrognathia
136647	MPLKIP	HP:0025548	Increased mean corpuscular hemoglobin concentration
136647	MPLKIP	HP:0001598	Concave nail
136647	MPLKIP	HP:0002828	Multiple joint contractures
136647	MPLKIP	HP:0000252	Microcephaly
136647	MPLKIP	HP:0002860	Squamous cell carcinoma
136647	MPLKIP	HP:0001537	Umbilical hernia
136647	MPLKIP	HP:0001511	Intrauterine growth retardation
136647	MPLKIP	HP:0001510	Growth delay
136647	MPLKIP	HP:0006538	Recurrent bronchopulmonary infections
136647	MPLKIP	HP:0001618	Dysphonia
136647	MPLKIP	HP:0002942	Thoracic kyphosis
136647	MPLKIP	HP:0011001	Increased bone mineral density
136647	MPLKIP	HP:0000320	Bird-like facies
136647	MPLKIP	HP:0000316	Hypertelorism
136647	MPLKIP	HP:0001629	Ventricular septal defect
136647	MPLKIP	HP:0001638	Cardiomyopathy
136647	MPLKIP	HP:0000400	Macrotia
136647	MPLKIP	HP:0000483	Astigmatism
136647	MPLKIP	HP:0000486	Strabismus
136647	MPLKIP	HP:0000482	Microcornea
136647	MPLKIP	HP:0001792	Small nail
136647	MPLKIP	HP:0000463	Anteverted nares
136647	MPLKIP	HP:0000411	Protruding ear
136647	MPLKIP	HP:0000519	Developmental cataract
136647	MPLKIP	HP:0000509	Conjunctivitis
136647	MPLKIP	HP:0001809	Split nail
136647	MPLKIP	HP:0001808	Fragile nails
136647	MPLKIP	HP:0001807	Ridged nail
136647	MPLKIP	HP:0000568	Microphthalmia
136647	MPLKIP	HP:0000565	Esotropia
136647	MPLKIP	HP:0000546	Retinal degeneration
136647	MPLKIP	HP:0000545	Myopia
136647	MPLKIP	HP:0001875	Neutropenia
137392	CIBAR1	HP:0001162	Postaxial hand polydactyly
137392	CIBAR1	HP:0000007	Autosomal recessive inheritance
137392	CIBAR1	HP:0001830	Postaxial foot polydactyly
137492	VPS37A	HP:0002495	Impaired vibratory sensation
137492	VPS37A	HP:0002451	Limb dystonia
137492	VPS37A	HP:0001288	Gait disturbance
137492	VPS37A	HP:0001263	Global developmental delay
137492	VPS37A	HP:0001258	Spastic paraplegia
137492	VPS37A	HP:0007350	Hyperreflexia in upper limbs
137492	VPS37A	HP:0002539	Cortical dysplasia
137492	VPS37A	HP:0001347	Hyperreflexia
137492	VPS37A	HP:0001332	Dystonia
137492	VPS37A	HP:0000007	Autosomal recessive inheritance
137492	VPS37A	HP:0100543	Cognitive impairment
137492	VPS37A	HP:0002119	Ventriculomegaly
137492	VPS37A	HP:0002169	Clonus
137492	VPS37A	HP:0003593	Infantile onset
137492	VPS37A	HP:0010831	Impaired proprioception
137492	VPS37A	HP:0200049	Upper limb hypertonia
137492	VPS37A	HP:0006895	Lower limb hypertonia
137492	VPS37A	HP:0005692	Joint hyperflexibility
137492	VPS37A	HP:0000768	Pectus carinatum
137492	VPS37A	HP:0000750	Delayed speech and language development
137492	VPS37A	HP:0011463	Childhood onset
137492	VPS37A	HP:0000998	Hypertrichosis
137492	VPS37A	HP:0002808	Kyphosis
137492	VPS37A	HP:0000252	Microcephaly
137492	VPS37A	HP:0001508	Failure to thrive
137492	VPS37A	HP:0000365	Hearing impairment
137492	VPS37A	HP:0000372	Abnormality of the auditory canal
137682	NDUFAF6	HP:0002490	Increased CSF lactate
137682	NDUFAF6	HP:0003774	Stage 5 chronic kidney disease
137682	NDUFAF6	HP:0007325	Generalized dystonia
137682	NDUFAF6	HP:0010864	Intellectual disability, severe
137682	NDUFAF6	HP:0002415	Leukodystrophy
137682	NDUFAF6	HP:0001288	Gait disturbance
137682	NDUFAF6	HP:0001250	Seizure
137682	NDUFAF6	HP:0001252	Hypotonia
137682	NDUFAF6	HP:0001251	Ataxia
137682	NDUFAF6	HP:0001260	Dysarthria
137682	NDUFAF6	HP:0001263	Global developmental delay
137682	NDUFAF6	HP:0001257	Spasticity
137682	NDUFAF6	HP:0100874	Thick hair
137682	NDUFAF6	HP:0000093	Proteinuria
137682	NDUFAF6	HP:0001347	Hyperreflexia
137682	NDUFAF6	HP:0001332	Dystonia
137682	NDUFAF6	HP:0002659	Increased susceptibility to fractures
137682	NDUFAF6	HP:0001324	Muscle weakness
137682	NDUFAF6	HP:0000007	Autosomal recessive inheritance
137682	NDUFAF6	HP:0002653	Bone pain
137682	NDUFAF6	HP:0002650	Scoliosis
137682	NDUFAF6	HP:0012128	Basal ganglia necrosis
137682	NDUFAF6	HP:0008972	Decreased activity of mitochondrial respiratory chain
137682	NDUFAF6	HP:0002705	High, narrow palate
137682	NDUFAF6	HP:0000117	Renal phosphate wasting
137682	NDUFAF6	HP:0002749	Osteomalacia
137682	NDUFAF6	HP:0003355	Aminoaciduria
137682	NDUFAF6	HP:0002097	Emphysema
137682	NDUFAF6	HP:0002063	Rigidity
137682	NDUFAF6	HP:0002073	Progressive cerebellar ataxia
137682	NDUFAF6	HP:0002049	Proximal renal tubular acidosis
137682	NDUFAF6	HP:0002151	Increased serum lactate
137682	NDUFAF6	HP:0002150	Hypercalciuria
137682	NDUFAF6	HP:0002148	Hypophosphatemia
137682	NDUFAF6	HP:0002104	Apnea
137682	NDUFAF6	HP:0011923	Decreased activity of mitochondrial complex I
137682	NDUFAF6	HP:0003593	Infantile onset
137682	NDUFAF6	HP:0003537	Hypouricemia
137682	NDUFAF6	HP:0002206	Pulmonary fibrosis
137682	NDUFAF6	HP:0007020	Progressive spastic paraplegia
137682	NDUFAF6	HP:0002376	Developmental regression
137682	NDUFAF6	HP:0003646	Bicarbonaturia
137682	NDUFAF6	HP:0009830	Peripheral neuropathy
137682	NDUFAF6	HP:0003621	Juvenile onset
137682	NDUFAF6	HP:0004918	Hyperchloremic metabolic acidosis
137682	NDUFAF6	HP:0004912	Hypophosphatemic rickets
137682	NDUFAF6	HP:0004910	Bicarbonate-wasting renal tubular acidosis
137682	NDUFAF6	HP:0007183	Focal T2 hyperintense basal ganglia lesion
137682	NDUFAF6	HP:0005576	Tubulointerstitial fibrosis
137682	NDUFAF6	HP:0012622	Chronic kidney disease
137682	NDUFAF6	HP:0000639	Nystagmus
137682	NDUFAF6	HP:0000648	Optic atrophy
137682	NDUFAF6	HP:0012606	Renal sodium wasting
137682	NDUFAF6	HP:0001944	Dehydration
137682	NDUFAF6	HP:0001943	Hypoglycemia
137682	NDUFAF6	HP:0001941	Acidosis
137682	NDUFAF6	HP:0000602	Ophthalmoplegia
137682	NDUFAF6	HP:0001903	Anemia
137682	NDUFAF6	HP:0003076	Glycosuria
137682	NDUFAF6	HP:0003081	Increased urinary potassium
137682	NDUFAF6	HP:0100022	Abnormality of movement
137682	NDUFAF6	HP:0012706	Elevated brain choline level by MRS
137682	NDUFAF6	HP:0012707	Elevated brain lactate level by MRS
137682	NDUFAF6	HP:0000712	Emotional lability
137682	NDUFAF6	HP:0011463	Childhood onset
137682	NDUFAF6	HP:0003126	Low-molecular-weight proteinuria
137682	NDUFAF6	HP:0003149	Hyperuricosuria
137682	NDUFAF6	HP:0003128	Lactic acidosis
137682	NDUFAF6	HP:0000822	Hypertension
137682	NDUFAF6	HP:0003234	Decreased plasma carnitine
137682	NDUFAF6	HP:0003202	Skeletal muscle atrophy
137682	NDUFAF6	HP:0045051	Decreased DLCO
137682	NDUFAF6	HP:0000998	Hypertrichosis
137682	NDUFAF6	HP:0030078	Lung adenocarcinoma
137682	NDUFAF6	HP:0002857	Genu valgum
137682	NDUFAF6	HP:0001508	Failure to thrive
137682	NDUFAF6	HP:0001510	Growth delay
137682	NDUFAF6	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
137682	NDUFAF6	HP:0002909	Generalized aminoaciduria
137682	NDUFAF6	HP:0002900	Hypokalemia
137682	NDUFAF6	HP:0000365	Hearing impairment
137682	NDUFAF6	HP:0001629	Ventricular septal defect
137682	NDUFAF6	HP:0001639	Hypertrophic cardiomyopathy
137682	NDUFAF6	HP:0011153	Focal motor seizure
137682	NDUFAF6	HP:0000486	Strabismus
137682	NDUFAF6	HP:0001763	Pes planus
137682	NDUFAF6	HP:0001824	Weight loss
137682	NDUFAF6	HP:0000508	Ptosis
137682	NDUFAF6	HP:0000580	Pigmentary retinopathy
137814	NKX2-6	HP:0001156	Brachydactyly
137814	NKX2-6	HP:0009891	Underdeveloped supraorbital ridges
137814	NKX2-6	HP:0001263	Global developmental delay
137814	NKX2-6	HP:0031014	Arteria lusoria
137814	NKX2-6	HP:0012020	Right aortic arch
137814	NKX2-6	HP:0000028	Cryptorchidism
137814	NKX2-6	HP:0000007	Autosomal recessive inheritance
137814	NKX2-6	HP:0002789	Tachypnea
137814	NKX2-6	HP:0002089	Pulmonary hypoplasia
137814	NKX2-6	HP:0100598	Pulmonary edema
137814	NKX2-6	HP:0002101	Abnormal lung lobation
137814	NKX2-6	HP:0004971	Pulmonary artery hypoplasia
137814	NKX2-6	HP:0004935	Pulmonary artery atresia
137814	NKX2-6	HP:0004209	Clinodactyly of the 5th finger
137814	NKX2-6	HP:0001939	Abnormality of metabolism/homeostasis
137814	NKX2-6	HP:0010055	Broad hallux
137814	NKX2-6	HP:0001999	Abnormal facial shape
137814	NKX2-6	HP:0000778	Hypoplasia of the thymus
137814	NKX2-6	HP:0004415	Pulmonary artery stenosis
137814	NKX2-6	HP:0004467	Preauricular pit
137814	NKX2-6	HP:0000849	Adrenocortical abnormality
137814	NKX2-6	HP:0045060	Aplasia/hypoplasia involving bones of the extremities
137814	NKX2-6	HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta
137814	NKX2-6	HP:0100259	Postaxial polydactyly
137814	NKX2-6	HP:0011640	Single coronary artery origin
137814	NKX2-6	HP:0011611	Interrupted aortic arch
137814	NKX2-6	HP:0000961	Cyanosis
137814	NKX2-6	HP:0025575	Abnormal superior vena cava morphology
137814	NKX2-6	HP:0000268	Dolichocephaly
137814	NKX2-6	HP:0005105	Abnormal nasal morphology
137814	NKX2-6	HP:0000233	Thin vermilion border
137814	NKX2-6	HP:0000202	Orofacial cleft
137814	NKX2-6	HP:0001511	Intrauterine growth retardation
137814	NKX2-6	HP:0001674	Complete atrioventricular canal defect
137814	NKX2-6	HP:0001669	Transposition of the great arteries
137814	NKX2-6	HP:0000337	Broad forehead
137814	NKX2-6	HP:0001667	Right ventricular hypertrophy
137814	NKX2-6	HP:0001680	Coarctation of aorta
137814	NKX2-6	HP:0000316	Hypertelorism
137814	NKX2-6	HP:0001649	Tachycardia
137814	NKX2-6	HP:0001643	Patent ductus arteriosus
137814	NKX2-6	HP:0001642	Pulmonic stenosis
137814	NKX2-6	HP:0001660	Truncus arteriosus
137814	NKX2-6	HP:0001659	Aortic regurgitation
137814	NKX2-6	HP:0001654	Abnormal heart valve morphology
137814	NKX2-6	HP:0001629	Ventricular septal defect
137814	NKX2-6	HP:0001627	Abnormal heart morphology
137814	NKX2-6	HP:0001640	Cardiomegaly
137814	NKX2-6	HP:0001636	Tetralogy of Fallot
137814	NKX2-6	HP:0001631	Atrial septal defect
137814	NKX2-6	HP:0005301	Persistent left superior vena cava
137814	NKX2-6	HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery
137814	NKX2-6	HP:0031653	Abnormal heart valve physiology
137814	NKX2-6	HP:0001719	Double outlet right ventricle
137814	NKX2-6	HP:0006704	Abnormal coronary artery morphology
137814	NKX2-6	HP:0000520	Proptosis
138050	HGSNAT	HP:0001133	Constriction of peripheral visual field
138050	HGSNAT	HP:0001105	Retinal atrophy
138050	HGSNAT	HP:0001123	Visual field defect
138050	HGSNAT	HP:0001270	Motor delay
138050	HGSNAT	HP:0001250	Seizure
138050	HGSNAT	HP:0001249	Intellectual disability
138050	HGSNAT	HP:0001263	Global developmental delay
138050	HGSNAT	HP:0008736	Hypoplasia of penis
138050	HGSNAT	HP:0001387	Joint stiffness
138050	HGSNAT	HP:0001347	Hyperreflexia
138050	HGSNAT	HP:0000035	Abnormal testis morphology
138050	HGSNAT	HP:0000007	Autosomal recessive inheritance
138050	HGSNAT	HP:0000135	Hypogonadism
138050	HGSNAT	HP:0007675	Progressive night blindness
138050	HGSNAT	HP:0007663	Reduced visual acuity
138050	HGSNAT	HP:0500087	Peripapillary atrophy
138050	HGSNAT	HP:0002788	Recurrent upper respiratory tract infections
138050	HGSNAT	HP:0002751	Kyphoscoliosis
138050	HGSNAT	HP:0002014	Diarrhea
138050	HGSNAT	HP:0002015	Dysphagia
138050	HGSNAT	HP:0003309	Ovoid thoracolumbar vertebrae
138050	HGSNAT	HP:0005978	Type II diabetes mellitus
138050	HGSNAT	HP:0002159	Heparan sulfate excretion in urine
138050	HGSNAT	HP:0003596	Middle age onset
138050	HGSNAT	HP:0002240	Hepatomegaly
138050	HGSNAT	HP:0002208	Coarse hair
138050	HGSNAT	HP:0100790	Hernia
138050	HGSNAT	HP:0002360	Sleep disturbance
138050	HGSNAT	HP:0002371	Loss of speech
138050	HGSNAT	HP:0001007	Hirsutism
138050	HGSNAT	HP:0003653	Cellular metachromasia
138050	HGSNAT	HP:0002333	Motor deterioration
138050	HGSNAT	HP:0003621	Juvenile onset
138050	HGSNAT	HP:0030501	Macular crystals
138050	HGSNAT	HP:0030529	Ring scotoma
138050	HGSNAT	HP:0000639	Nystagmus
138050	HGSNAT	HP:0000648	Optic atrophy
138050	HGSNAT	HP:0000618	Blindness
138050	HGSNAT	HP:0000613	Photophobia
138050	HGSNAT	HP:0000622	Blurred vision
138050	HGSNAT	HP:0000602	Ophthalmoplegia
138050	HGSNAT	HP:0000603	Central scotoma
138050	HGSNAT	HP:0000662	Nyctalopia
138050	HGSNAT	HP:0000664	Synophrys
138050	HGSNAT	HP:0100014	Epiretinal membrane
138050	HGSNAT	HP:0000752	Hyperactivity
138050	HGSNAT	HP:0011463	Childhood onset
138050	HGSNAT	HP:0030786	Photopsia
138050	HGSNAT	HP:0000900	Thickened ribs
138050	HGSNAT	HP:0000842	Hyperinsulinemia
138050	HGSNAT	HP:0004568	Beaking of vertebral bodies
138050	HGSNAT	HP:0000998	Hypertrichosis
138050	HGSNAT	HP:0000987	Atypical scarring of skin
138050	HGSNAT	HP:0000943	Dysostosis multiplex
138050	HGSNAT	HP:0008046	Abnormal retinal vascular morphology
138050	HGSNAT	HP:0007703	Abnormality of retinal pigmentation
138050	HGSNAT	HP:0000280	Coarse facial features
138050	HGSNAT	HP:0000268	Dolichocephaly
138050	HGSNAT	HP:0007737	Bone spicule pigmentation of the retina
138050	HGSNAT	HP:0000250	Dense calvaria
138050	HGSNAT	HP:0000232	Everted lower lip vermilion
138050	HGSNAT	HP:0001507	Growth abnormality
138050	HGSNAT	HP:0001513	Obesity
138050	HGSNAT	HP:0000365	Hearing impairment
138050	HGSNAT	HP:0001670	Asymmetric septal hypertrophy
138050	HGSNAT	HP:0031609	Geographic atrophy
138050	HGSNAT	HP:0000407	Sensorineural hearing impairment
138050	HGSNAT	HP:0000405	Conductive hearing impairment
138050	HGSNAT	HP:0000463	Anteverted nares
138050	HGSNAT	HP:0001744	Splenomegaly
138050	HGSNAT	HP:0000431	Wide nasal bridge
138050	HGSNAT	HP:0025708	Early young adult onset
138050	HGSNAT	HP:0000518	Cataract
138050	HGSNAT	HP:0000510	Rod-cone dystrophy
138050	HGSNAT	HP:0000512	Abnormal electroretinogram
138050	HGSNAT	HP:0000505	Visual impairment
138050	HGSNAT	HP:0000501	Glaucoma
138050	HGSNAT	HP:0000563	Keratoconus
138050	HGSNAT	HP:0000551	Color vision defect
138050	HGSNAT	HP:0000543	Optic disc pallor
139212	DNAAF6	HP:0025177	Peribronchovascular interstitial thickening
139212	DNAAF6	HP:0002566	Intestinal malrotation
139212	DNAAF6	HP:0001217	Clubbing
139212	DNAAF6	HP:0002643	Neonatal respiratory distress
139212	DNAAF6	HP:0000119	Abnormality of the genitourinary system
139212	DNAAF6	HP:0032543	Lithoptysis
139212	DNAAF6	HP:0001419	X-linked recessive inheritance
139212	DNAAF6	HP:0031245	Productive cough
139212	DNAAF6	HP:0002011	Morphological central nervous system abnormality
139212	DNAAF6	HP:0100582	Nasal polyposis
139212	DNAAF6	HP:0002119	Ventriculomegaly
139212	DNAAF6	HP:0002110	Bronchiectasis
139212	DNAAF6	HP:0008222	Female infertility
139212	DNAAF6	HP:0002257	Chronic rhinitis
139212	DNAAF6	HP:0002205	Recurrent respiratory infections
139212	DNAAF6	HP:0100750	Atelectasis
139212	DNAAF6	HP:0032016	Abnormal sputum
139212	DNAAF6	HP:0011947	Respiratory tract infection
139212	DNAAF6	HP:0010772	Anomalous pulmonary venous return
139212	DNAAF6	HP:0003623	Neonatal onset
139212	DNAAF6	HP:0030680	Abnormality of cardiovascular system morphology
139212	DNAAF6	HP:0012735	Cough
139212	DNAAF6	HP:0000750	Delayed speech and language development
139212	DNAAF6	HP:0000924	Abnormality of the skeletal system
139212	DNAAF6	HP:0011539	Atrial situs ambiguous
139212	DNAAF6	HP:0011535	Abnormal atrial arrangement
139212	DNAAF6	HP:0030828	Wheezing
139212	DNAAF6	HP:0003251	Male infertility
139212	DNAAF6	HP:0011617	Pulmonary situs ambiguus
139212	DNAAF6	HP:0033036	Decreased nasal nitric oxide
139212	DNAAF6	HP:0025576	Abnormal inferior vena cava morphology
139212	DNAAF6	HP:0000238	Hydrocephalus
139212	DNAAF6	HP:0012206	Abnormal sperm motility
139212	DNAAF6	HP:0002878	Respiratory failure
139212	DNAAF6	HP:0000389	Chronic otitis media
139212	DNAAF6	HP:0006536	Airway obstruction
139212	DNAAF6	HP:0001696	Situs inversus totalis
139212	DNAAF6	HP:0000365	Hearing impairment
139212	DNAAF6	HP:0001669	Transposition of the great arteries
139212	DNAAF6	HP:0031456	Ectopic pregnancy
139212	DNAAF6	HP:0001627	Abnormal heart morphology
139212	DNAAF6	HP:0005301	Persistent left superior vena cava
139212	DNAAF6	HP:0000403	Recurrent otitis media
139212	DNAAF6	HP:0000405	Conductive hearing impairment
139212	DNAAF6	HP:0001719	Double outlet right ventricle
139212	DNAAF6	HP:0011109	Chronic sinusitis
139212	DNAAF6	HP:0011108	Recurrent sinusitis
139212	DNAAF6	HP:0001746	Asplenia
139212	DNAAF6	HP:0001748	Polysplenia
139212	DNAAF6	HP:0001742	Nasal congestion
139212	DNAAF6	HP:0005425	Recurrent sinopulmonary infections
139212	DNAAF6	HP:0011274	Recurrent mycobacterial infections
139212	DNAAF6	HP:0000510	Rod-cone dystrophy
139285	AMER1	HP:0001166	Arachnodactyly
139285	AMER1	HP:0008551	Microtia
139285	AMER1	HP:0001290	Generalized hypotonia
139285	AMER1	HP:0001256	Intellectual disability, mild
139285	AMER1	HP:0001250	Seizure
139285	AMER1	HP:0001252	Hypotonia
139285	AMER1	HP:0001249	Intellectual disability
139285	AMER1	HP:0001263	Global developmental delay
139285	AMER1	HP:0002566	Intestinal malrotation
139285	AMER1	HP:0002514	Cerebral calcification
139285	AMER1	HP:0008808	High iliac wing
139285	AMER1	HP:0002684	Thickened calvaria
139285	AMER1	HP:0002694	Sclerosis of skull base
139285	AMER1	HP:0008818	Large iliac wing
139285	AMER1	HP:0001328	Specific learning disability
139285	AMER1	HP:0001338	Partial agenesis of the corpus callosum
139285	AMER1	HP:0000003	Multicystic kidney dysplasia
139285	AMER1	HP:0002650	Scoliosis
139285	AMER1	HP:0000179	Thick lower lip vermilion
139285	AMER1	HP:0000193	Bifid uvula
139285	AMER1	HP:0000176	Submucous cleft hard palate
139285	AMER1	HP:0000175	Cleft palate
139285	AMER1	HP:0001476	Delayed closure of the anterior fontanelle
139285	AMER1	HP:0002705	High, narrow palate
139285	AMER1	HP:0002779	Tracheomalacia
139285	AMER1	HP:0001423	X-linked dominant inheritance
139285	AMER1	HP:0002025	Anal stenosis
139285	AMER1	HP:0002023	Anal atresia
139285	AMER1	HP:0002020	Gastroesophageal reflux
139285	AMER1	HP:0002007	Frontal bossing
139285	AMER1	HP:0003307	Hyperlordosis
139285	AMER1	HP:0005950	Laryngeal web
139285	AMER1	HP:0009473	Joint contracture of the hand
139285	AMER1	HP:0002104	Apnea
139285	AMER1	HP:0010529	Echolalia
139285	AMER1	HP:0010628	Facial palsy
139285	AMER1	HP:0003510	Severe short stature
139285	AMER1	HP:0002381	Aphasia
139285	AMER1	HP:0002315	Headache
139285	AMER1	HP:0100670	Coarse metaphyseal trabecularization
139285	AMER1	HP:0010740	Osteopathia striata
139285	AMER1	HP:0002300	Mutism
139285	AMER1	HP:0004209	Clinodactyly of the 5th finger
139285	AMER1	HP:0000684	Delayed eruption of teeth
139285	AMER1	HP:0000678	Dental crowding
139285	AMER1	HP:0000695	Natal tooth
139285	AMER1	HP:0000689	Dental malocclusion
139285	AMER1	HP:0004322	Short stature
139285	AMER1	HP:0005619	Thoracolumbar kyphosis
139285	AMER1	HP:0003038	Fibular hypoplasia
139285	AMER1	HP:0000767	Pectus excavatum
139285	AMER1	HP:0000750	Delayed speech and language development
139285	AMER1	HP:0000885	Broad ribs
139285	AMER1	HP:0005830	Flexion contracture of toe
139285	AMER1	HP:0003298	Spina bifida occulta
139285	AMER1	HP:0000944	Abnormal metaphysis morphology
139285	AMER1	HP:0000286	Epicanthus
139285	AMER1	HP:0000278	Retrognathia
139285	AMER1	HP:0000256	Macrocephaly
139285	AMER1	HP:0000270	Delayed cranial suture closure
139285	AMER1	HP:0000239	Large fontanelles
139285	AMER1	HP:0000238	Hydrocephalus
139285	AMER1	HP:0000248	Brachycephaly
139285	AMER1	HP:0000218	High palate
139285	AMER1	HP:0001562	Oligohydramnios
139285	AMER1	HP:0001561	Polyhydramnios
139285	AMER1	HP:0001555	Asymmetry of the thorax
139285	AMER1	HP:0001539	Omphalocele
139285	AMER1	HP:0000201	Pierre-Robin sequence
139285	AMER1	HP:0000204	Cleft upper lip
139285	AMER1	HP:0001508	Failure to thrive
139285	AMER1	HP:0012385	Camptodactyly
139285	AMER1	HP:0012368	Flat face
139285	AMER1	HP:0000396	Overfolded helix
139285	AMER1	HP:0006587	Straight clavicles
139285	AMER1	HP:0000358	Posteriorly rotated ears
139285	AMER1	HP:0000369	Low-set ears
139285	AMER1	HP:0000341	Narrow forehead
139285	AMER1	HP:0011002	Osteopetrosis
139285	AMER1	HP:0011001	Increased bone mineral density
139285	AMER1	HP:0001680	Coarctation of aorta
139285	AMER1	HP:0000347	Micrognathia
139285	AMER1	HP:0001650	Aortic valve stenosis
139285	AMER1	HP:0000316	Hypertelorism
139285	AMER1	HP:0001643	Patent ductus arteriosus
139285	AMER1	HP:0002990	Fibular aplasia
139285	AMER1	HP:0001629	Ventricular septal defect
139285	AMER1	HP:0001631	Atrial septal defect
139285	AMER1	HP:0006610	Wide intermamillary distance
139285	AMER1	HP:0000405	Conductive hearing impairment
139285	AMER1	HP:0000465	Webbed neck
139285	AMER1	HP:0001762	Talipes equinovarus
139285	AMER1	HP:0000431	Wide nasal bridge
139285	AMER1	HP:0005469	Flat occiput
139285	AMER1	HP:0005465	Facial hyperostosis
139285	AMER1	HP:0005464	Craniofacial osteosclerosis
139285	AMER1	HP:0006784	Paranasal sinus hypoplasia
139285	AMER1	HP:0000518	Cataract
139285	AMER1	HP:0011220	Prominent forehead
139411	PTCHD1	HP:0001290	Generalized hypotonia
139411	PTCHD1	HP:0001252	Hypotonia
139411	PTCHD1	HP:0001249	Intellectual disability
139411	PTCHD1	HP:0001419	X-linked recessive inheritance
139411	PTCHD1	HP:0003593	Infantile onset
139411	PTCHD1	HP:0100710	Impulsivity
139411	PTCHD1	HP:0007018	Attention deficit hyperactivity disorder
139411	PTCHD1	HP:0100034	Motor tics
139411	PTCHD1	HP:0000718	Aggressive behavior
139411	PTCHD1	HP:0000717	Autism
140032	RPS4Y2	HP:0000027	Azoospermia
140032	RPS4Y2	HP:0001450	Y-linked inheritance
140032	RPS4Y2	HP:0011462	Young adult onset
140032	RPS4Y2	HP:0003251	Male infertility
140628	GATA5	HP:0001156	Brachydactyly
140628	GATA5	HP:0009891	Underdeveloped supraorbital ridges
140628	GATA5	HP:0003829	Typified by incomplete penetrance
140628	GATA5	HP:0000028	Cryptorchidism
140628	GATA5	HP:0000007	Autosomal recessive inheritance
140628	GATA5	HP:0000006	Autosomal dominant inheritance
140628	GATA5	HP:0003577	Congenital onset
140628	GATA5	HP:0004962	Thoracic aorta calcification
140628	GATA5	HP:0004933	Ascending aortic dissection
140628	GATA5	HP:0004209	Clinodactyly of the 5th finger
140628	GATA5	HP:0004383	Hypoplastic left heart
140628	GATA5	HP:0004380	Aortic valve calcification
140628	GATA5	HP:0004467	Preauricular pit
140628	GATA5	HP:0000822	Hypertension
140628	GATA5	HP:0000268	Dolichocephaly
140628	GATA5	HP:0005113	Aortic arch aneurysm
140628	GATA5	HP:0005110	Atrial fibrillation
140628	GATA5	HP:0005105	Abnormal nasal morphology
140628	GATA5	HP:0000233	Thin vermilion border
140628	GATA5	HP:0001511	Intrauterine growth retardation
140628	GATA5	HP:0000337	Broad forehead
140628	GATA5	HP:0001680	Coarctation of aorta
140628	GATA5	HP:0001650	Aortic valve stenosis
140628	GATA5	HP:0001647	Bicuspid aortic valve
140628	GATA5	HP:0001644	Dilated cardiomyopathy
140628	GATA5	HP:0030148	Heart murmur
140628	GATA5	HP:0001659	Aortic regurgitation
140628	GATA5	HP:0001629	Ventricular septal defect
140628	GATA5	HP:0001636	Tetralogy of Fallot
140628	GATA5	HP:0001631	Atrial septal defect
140628	GATA5	HP:0001719	Double outlet right ventricle
140628	GATA5	HP:0011103	Abnormal left ventricular outflow tract morphology
140628	GATA5	HP:0000520	Proptosis
140732	SUN5	HP:0000007	Autosomal recessive inheritance
140732	SUN5	HP:0008226	Androgen insufficiency
140732	SUN5	HP:0011462	Young adult onset
140732	SUN5	HP:0000798	Oligospermia
140732	SUN5	HP:0012867	Abnormal sperm mid-piece morphology
140732	SUN5	HP:0012869	Acephalic spermatozoa
140732	SUN5	HP:0003251	Male infertility
140732	SUN5	HP:0012207	Reduced sperm motility
140732	SUN5	HP:0002916	Abnormality of chromosome segregation
140801	RPL10L	HP:0008734	Decreased testicular size
140801	RPL10L	HP:0000007	Autosomal recessive inheritance
140801	RPL10L	HP:0034011	Reduced progressive sperm motility
140801	RPL10L	HP:0011462	Young adult onset
140801	RPL10L	HP:0000798	Oligospermia
140801	RPL10L	HP:0003251	Male infertility
140803	TRPM6	HP:0001281	Tetany
140803	TRPM6	HP:0001250	Seizure
140803	TRPM6	HP:0000007	Autosomal recessive inheritance
140803	TRPM6	HP:0003394	Muscle spasm
140803	TRPM6	HP:0003593	Infantile onset
140803	TRPM6	HP:0002917	Hypomagnesemia
140803	TRPM6	HP:0002901	Hypocalcemia
142680	SLC34A3	HP:0001252	Hypotonia
142680	SLC34A3	HP:0002515	Waddling gait
142680	SLC34A3	HP:0002663	Delayed epiphyseal ossification
142680	SLC34A3	HP:0001324	Muscle weakness
142680	SLC34A3	HP:0000007	Autosomal recessive inheritance
142680	SLC34A3	HP:0002653	Bone pain
142680	SLC34A3	HP:0000117	Renal phosphate wasting
142680	SLC34A3	HP:0000124	Renal tubular dysfunction
142680	SLC34A3	HP:0002757	Recurrent fractures
142680	SLC34A3	HP:0002756	Pathologic fracture
142680	SLC34A3	HP:0002753	Thin bony cortex
142680	SLC34A3	HP:0002752	Sparse bone trabeculae
142680	SLC34A3	HP:0002748	Rickets
142680	SLC34A3	HP:0002749	Osteomalacia
142680	SLC34A3	HP:0002007	Frontal bossing
142680	SLC34A3	HP:0002150	Hypercalciuria
142680	SLC34A3	HP:0002148	Hypophosphatemia
142680	SLC34A3	HP:0010502	Fibular bowing
142680	SLC34A3	HP:0004724	Calcium nephrolithiasis
142680	SLC34A3	HP:0003593	Infantile onset
142680	SLC34A3	HP:0010639	Elevated alkaline phosphatase of bone origin
142680	SLC34A3	HP:0003698	Difficulty standing
142680	SLC34A3	HP:0002355	Difficulty walking
142680	SLC34A3	HP:0004912	Hypophosphatemic rickets
142680	SLC34A3	HP:0031817	Decreased circulating parathyroid hormone level
142680	SLC34A3	HP:0004322	Short stature
142680	SLC34A3	HP:0004363	Abnormal circulating calcium concentration
142680	SLC34A3	HP:0003029	Enlargement of the ankles
142680	SLC34A3	HP:0003013	Bulging epiphyses
142680	SLC34A3	HP:0003025	Metaphyseal irregularity
142680	SLC34A3	HP:0003020	Enlargement of the wrists
142680	SLC34A3	HP:0004349	Reduced bone mineral density
142680	SLC34A3	HP:0000787	Nephrolithiasis
142680	SLC34A3	HP:0003109	Hyperphosphaturia
142680	SLC34A3	HP:0000924	Abnormality of the skeletal system
142680	SLC34A3	HP:0000920	Enlargement of the costochondral junction
142680	SLC34A3	HP:0003155	Elevated circulating alkaline phosphatase concentration
142680	SLC34A3	HP:0004492	Widely patent fontanelles and sutures
142680	SLC34A3	HP:0000893	Bulging of the costochondral junction
142680	SLC34A3	HP:0000886	Deformed rib cage
142680	SLC34A3	HP:0000897	Rachitic rosary
142680	SLC34A3	HP:0031414	High serum calcifediol
142680	SLC34A3	HP:0031415	High serum calcitriol
142680	SLC34A3	HP:0001508	Failure to thrive
142680	SLC34A3	HP:0001510	Growth delay
142680	SLC34A3	HP:0031428	Increased circulating osteocalcin level
142680	SLC34A3	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration
142680	SLC34A3	HP:0002982	Tibial bowing
142680	SLC34A3	HP:0002980	Femoral bowing
142680	SLC34A3	HP:0002979	Bowing of the legs
142680	SLC34A3	HP:0012408	Medullary nephrocalcinosis
142680	SLC34A3	HP:0005469	Flat occiput
144132	DNHD1	HP:0000007	Autosomal recessive inheritance
144132	DNHD1	HP:0032558	Absent sperm flagella
144132	DNHD1	HP:0032559	Short sperm flagella
144132	DNHD1	HP:0032560	Coiled sperm flagella
144132	DNHD1	HP:0033393	Irregularly shaped sperm tail
144132	DNHD1	HP:0034011	Reduced progressive sperm motility
144132	DNHD1	HP:0011462	Young adult onset
144132	DNHD1	HP:0000798	Oligospermia
144132	DNHD1	HP:0012867	Abnormal sperm mid-piece morphology
144132	DNHD1	HP:0003251	Male infertility
144132	DNHD1	HP:0012207	Reduced sperm motility
144165	PRICKLE1	HP:0001251	Ataxia
144165	PRICKLE1	HP:0001249	Intellectual disability
144165	PRICKLE1	HP:0001260	Dysarthria
144165	PRICKLE1	HP:0000007	Autosomal recessive inheritance
144165	PRICKLE1	HP:0001337	Tremor
144165	PRICKLE1	HP:0001336	Myoclonus
144165	PRICKLE1	HP:0001310	Dysmetria
144165	PRICKLE1	HP:0002080	Intention tremor
144165	PRICKLE1	HP:0003390	Sensory axonal neuropathy
144165	PRICKLE1	HP:0002070	Limb ataxia
144165	PRICKLE1	HP:0003487	Babinski sign
144165	PRICKLE1	HP:0002123	Generalized myoclonic seizure
144165	PRICKLE1	HP:0007000	Morning myoclonic jerks
144165	PRICKLE1	HP:0002392	EEG with polyspike wave complexes
144165	PRICKLE1	HP:0003676	Progressive
144165	PRICKLE1	HP:0010819	Atonic seizure
144165	PRICKLE1	HP:0003621	Juvenile onset
144165	PRICKLE1	HP:0000726	Dementia
144165	PRICKLE1	HP:0000992	Cutaneous photosensitivity
144245	ALG10B	HP:0001279	Syncope
144245	ALG10B	HP:0000006	Autosomal dominant inheritance
144245	ALG10B	HP:0003581	Adult onset
144245	ALG10B	HP:0011463	Childhood onset
144245	ALG10B	HP:0034303	Notched T wave
144245	ALG10B	HP:0005184	Prolonged QTc interval
144245	ALG10B	HP:0001695	Cardiac arrest
144245	ALG10B	HP:0001664	Torsade de pointes
144245	ALG10B	HP:0001645	Sudden cardiac death
144245	ALG10B	HP:0001663	Ventricular fibrillation
144245	ALG10B	HP:0001657	Prolonged QT interval
144245	ALG10B	HP:0025708	Early young adult onset
144406	CFAP251	HP:0000007	Autosomal recessive inheritance
144406	CFAP251	HP:0032558	Absent sperm flagella
144406	CFAP251	HP:0032559	Short sperm flagella
144406	CFAP251	HP:0032560	Coiled sperm flagella
144406	CFAP251	HP:0033393	Irregularly shaped sperm tail
144406	CFAP251	HP:0011462	Young adult onset
144406	CFAP251	HP:0003251	Male infertility
144406	CFAP251	HP:0012207	Reduced sperm motility
144568	A2ML1	HP:0010982	Polygenic inheritance
144568	A2ML1	HP:0000006	Autosomal dominant inheritance
144568	A2ML1	HP:0000403	Recurrent otitis media
144811	LACC1	HP:0032323	Periodic fever
144811	LACC1	HP:0001386	Joint swelling
144811	LACC1	HP:0000007	Autosomal recessive inheritance
144811	LACC1	HP:0012122	Anterior uveitis
144811	LACC1	HP:0002716	Lymphadenopathy
144811	LACC1	HP:0002027	Abdominal pain
144811	LACC1	HP:0003493	Antinuclear antibody positivity
144811	LACC1	HP:0002240	Hepatomegaly
144811	LACC1	HP:0003565	Elevated erythrocyte sedimentation rate
144811	LACC1	HP:0002202	Pleural effusion
144811	LACC1	HP:0001974	Leukocytosis
144811	LACC1	HP:0001945	Fever
144811	LACC1	HP:0005681	Juvenile rheumatoid arthritis
144811	LACC1	HP:0011463	Childhood onset
144811	LACC1	HP:0033087	Quotidian fever
144811	LACC1	HP:0000988	Skin rash
144811	LACC1	HP:0002829	Arthralgia
144811	LACC1	HP:0002960	Autoimmunity
144811	LACC1	HP:0001701	Pericarditis
144811	LACC1	HP:0001744	Splenomegaly
144811	LACC1	HP:0011227	Elevated circulating C-reactive protein concentration
144811	LACC1	HP:0001894	Thrombocytosis
145173	B3GLCT	HP:0001169	Broad palm
145173	B3GLCT	HP:0001156	Brachydactyly
145173	B3GLCT	HP:0001159	Syndactyly
145173	B3GLCT	HP:0008569	Microtia, second degree
145173	B3GLCT	HP:0100819	Intestinal fistula
145173	B3GLCT	HP:0001274	Agenesis of corpus callosum
145173	B3GLCT	HP:0001250	Seizure
145173	B3GLCT	HP:0001249	Intellectual disability
145173	B3GLCT	HP:0001263	Global developmental delay
145173	B3GLCT	HP:0008726	Hypoplasia of the vagina
145173	B3GLCT	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
145173	B3GLCT	HP:0008678	Renal hypoplasia/aplasia
145173	B3GLCT	HP:0000089	Renal hypoplasia
145173	B3GLCT	HP:0000060	Clitoral hypoplasia
145173	B3GLCT	HP:0000059	Hypoplastic labia majora
145173	B3GLCT	HP:0000073	Ureteral duplication
145173	B3GLCT	HP:0000075	Renal duplication
145173	B3GLCT	HP:0001388	Joint laxity
145173	B3GLCT	HP:0000047	Hypospadias
145173	B3GLCT	HP:0000023	Inguinal hernia
145173	B3GLCT	HP:0001363	Craniosynostosis
145173	B3GLCT	HP:0000028	Cryptorchidism
145173	B3GLCT	HP:0008897	Postnatal growth retardation
145173	B3GLCT	HP:0008873	Disproportionate short-limb short stature
145173	B3GLCT	HP:0008872	Feeding difficulties in infancy
145173	B3GLCT	HP:0000013	Hypoplasia of the uterus
145173	B3GLCT	HP:0000007	Autosomal recessive inheritance
145173	B3GLCT	HP:0000003	Multicystic kidney dysplasia
145173	B3GLCT	HP:0002650	Scoliosis
145173	B3GLCT	HP:0002644	Abnormal pelvic girdle bone morphology
145173	B3GLCT	HP:0008905	Rhizomelia
145173	B3GLCT	HP:0000175	Cleft palate
145173	B3GLCT	HP:0000154	Wide mouth
145173	B3GLCT	HP:0000126	Hydronephrosis
145173	B3GLCT	HP:0002023	Anal atresia
145173	B3GLCT	HP:0002000	Short columella
145173	B3GLCT	HP:0002007	Frontal bossing
145173	B3GLCT	HP:0002059	Cerebral atrophy
145173	B3GLCT	HP:0030968	Abnormal pulmonary vein morphology
145173	B3GLCT	HP:0002120	Cerebral cortical atrophy
145173	B3GLCT	HP:0002119	Ventriculomegaly
145173	B3GLCT	HP:0009623	Proximal placement of thumb
145173	B3GLCT	HP:0002263	Exaggerated cupid's bow
145173	B3GLCT	HP:0002219	Facial hypertrichosis
145173	B3GLCT	HP:0003561	Birth length less than 3rd percentile
145173	B3GLCT	HP:0001080	Biliary tract abnormality
145173	B3GLCT	HP:0010743	Short metatarsal
145173	B3GLCT	HP:0004209	Clinodactyly of the 5th finger
145173	B3GLCT	HP:0004279	Short palm
145173	B3GLCT	HP:0006887	Intellectual disability, progressive
145173	B3GLCT	HP:0000639	Nystagmus
145173	B3GLCT	HP:0000648	Optic atrophy
145173	B3GLCT	HP:0000612	Iris coloboma
145173	B3GLCT	HP:0010049	Short metacarpal
145173	B3GLCT	HP:0000690	Agenesis of maxillary lateral incisor
145173	B3GLCT	HP:0000687	Widely spaced teeth
145173	B3GLCT	HP:0000659	Peters anomaly
145173	B3GLCT	HP:0004325	Decreased body weight
145173	B3GLCT	HP:0004322	Short stature
145173	B3GLCT	HP:0005608	Bilobate gallbladder
145173	B3GLCT	HP:0004383	Hypoplastic left heart
145173	B3GLCT	HP:0012745	Short palpebral fissure
145173	B3GLCT	HP:0000767	Pectus excavatum
145173	B3GLCT	HP:0004414	Abnormality of the pulmonary artery
145173	B3GLCT	HP:0003196	Short nose
145173	B3GLCT	HP:0004467	Preauricular pit
145173	B3GLCT	HP:0000851	Congenital hypothyroidism
145173	B3GLCT	HP:0000830	Anterior hypopituitarism
145173	B3GLCT	HP:0100336	Bilateral cleft lip
145173	B3GLCT	HP:0003298	Spina bifida occulta
145173	B3GLCT	HP:0003278	Square pelvis bone
145173	B3GLCT	HP:0000954	Single transverse palmar crease
145173	B3GLCT	HP:0000960	Sacral dimple
145173	B3GLCT	HP:0045025	Narrow palpebral fissure
145173	B3GLCT	HP:0000260	Wide anterior fontanel
145173	B3GLCT	HP:0000256	Macrocephaly
145173	B3GLCT	HP:0000276	Long face
145173	B3GLCT	HP:0000238	Hydrocephalus
145173	B3GLCT	HP:0000252	Microcephaly
145173	B3GLCT	HP:0000248	Brachycephaly
145173	B3GLCT	HP:0000219	Thin upper lip vermilion
145173	B3GLCT	HP:0001545	Anteriorly placed anus
145173	B3GLCT	HP:0001561	Polyhydramnios
145173	B3GLCT	HP:0000233	Thin vermilion border
145173	B3GLCT	HP:0001558	Decreased fetal movement
145173	B3GLCT	HP:0000200	Short lingual frenulum
145173	B3GLCT	HP:0001540	Diastasis recti
145173	B3GLCT	HP:0001537	Umbilical hernia
145173	B3GLCT	HP:0000204	Cleft upper lip
145173	B3GLCT	HP:0001511	Intrauterine growth retardation
145173	B3GLCT	HP:0007833	Anterior chamber synechiae
145173	B3GLCT	HP:0011065	Conical incisor
145173	B3GLCT	HP:0000384	Preauricular skin tag
145173	B3GLCT	HP:0002937	Hemivertebrae
145173	B3GLCT	HP:0005182	Bicuspid pulmonary valve
145173	B3GLCT	HP:0000365	Hearing impairment
145173	B3GLCT	HP:0000358	Posteriorly rotated ears
145173	B3GLCT	HP:0000369	Low-set ears
145173	B3GLCT	HP:0000368	Low-set, posteriorly rotated ears
145173	B3GLCT	HP:0001671	Abnormal cardiac septum morphology
145173	B3GLCT	HP:0000343	Long philtrum
145173	B3GLCT	HP:0002996	Limited elbow movement
145173	B3GLCT	HP:0000347	Micrognathia
145173	B3GLCT	HP:0002983	Micromelia
145173	B3GLCT	HP:0000316	Hypertelorism
145173	B3GLCT	HP:0001643	Patent ductus arteriosus
145173	B3GLCT	HP:0000311	Round face
145173	B3GLCT	HP:0001642	Pulmonic stenosis
145173	B3GLCT	HP:0000327	Hypoplasia of the maxilla
145173	B3GLCT	HP:0001629	Ventricular septal defect
145173	B3GLCT	HP:0001631	Atrial septal defect
145173	B3GLCT	HP:0007957	Corneal opacity
145173	B3GLCT	HP:0006610	Wide intermamillary distance
145173	B3GLCT	HP:0000405	Conductive hearing impairment
145173	B3GLCT	HP:0000402	Stenosis of the external auditory canal
145173	B3GLCT	HP:0005280	Depressed nasal bridge
145173	B3GLCT	HP:0000480	Retinal coloboma
145173	B3GLCT	HP:0000482	Microcornea
145173	B3GLCT	HP:0000463	Anteverted nares
145173	B3GLCT	HP:0000475	Broad neck
145173	B3GLCT	HP:0000470	Short neck
145173	B3GLCT	HP:0000465	Webbed neck
145173	B3GLCT	HP:0001770	Toe syndactyly
145173	B3GLCT	HP:0001773	Short foot
145173	B3GLCT	HP:0001769	Broad foot
145173	B3GLCT	HP:0000411	Protruding ear
145173	B3GLCT	HP:0001761	Pes cavus
145173	B3GLCT	HP:0000518	Cataract
145173	B3GLCT	HP:0000508	Ptosis
145173	B3GLCT	HP:0000505	Visual impairment
145173	B3GLCT	HP:0000504	Abnormality of vision
145173	B3GLCT	HP:0000501	Glaucoma
145173	B3GLCT	HP:0001831	Short toe
145173	B3GLCT	HP:0000582	Upslanted palpebral fissure
145173	B3GLCT	HP:0011220	Prominent forehead
145173	B3GLCT	HP:0000545	Myopia
145226	RDH12	HP:0001141	Severely reduced visual acuity
145226	RDH12	HP:0001250	Seizure
145226	RDH12	HP:0001252	Hypotonia
145226	RDH12	HP:0001249	Intellectual disability
145226	RDH12	HP:0001263	Global developmental delay
145226	RDH12	HP:0008736	Hypoplasia of penis
145226	RDH12	HP:0001347	Hyperreflexia
145226	RDH12	HP:0000035	Abnormal testis morphology
145226	RDH12	HP:0000007	Autosomal recessive inheritance
145226	RDH12	HP:0000006	Autosomal dominant inheritance
145226	RDH12	HP:0000135	Hypogonadism
145226	RDH12	HP:0007675	Progressive night blindness
145226	RDH12	HP:0007663	Reduced visual acuity
145226	RDH12	HP:0005978	Type II diabetes mellitus
145226	RDH12	HP:0002084	Encephalocele
145226	RDH12	HP:0002269	Abnormality of neuronal migration
145226	RDH12	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
145226	RDH12	HP:0000639	Nystagmus
145226	RDH12	HP:0000648	Optic atrophy
145226	RDH12	HP:0000618	Blindness
145226	RDH12	HP:0000613	Photophobia
145226	RDH12	HP:0000602	Ophthalmoplegia
145226	RDH12	HP:0004374	Hemiplegia/hemiparesis
145226	RDH12	HP:0012795	Abnormal optic disc morphology
145226	RDH12	HP:0011463	Childhood onset
145226	RDH12	HP:0000842	Hyperinsulinemia
145226	RDH12	HP:0000987	Atypical scarring of skin
145226	RDH12	HP:0008046	Abnormal retinal vascular morphology
145226	RDH12	HP:0007703	Abnormality of retinal pigmentation
145226	RDH12	HP:0007737	Bone spicule pigmentation of the retina
145226	RDH12	HP:0001513	Obesity
145226	RDH12	HP:0007843	Attenuation of retinal blood vessels
145226	RDH12	HP:0000365	Hearing impairment
145226	RDH12	HP:0000407	Sensorineural hearing impairment
145226	RDH12	HP:0000405	Conductive hearing impairment
145226	RDH12	HP:0000463	Anteverted nares
145226	RDH12	HP:0000431	Wide nasal bridge
145226	RDH12	HP:0000518	Cataract
145226	RDH12	HP:0000512	Abnormal electroretinogram
145226	RDH12	HP:0000505	Visual impairment
145226	RDH12	HP:0000501	Glaucoma
145226	RDH12	HP:0000563	Keratoconus
145226	RDH12	HP:0000556	Retinal dystrophy
145226	RDH12	HP:0000543	Optic disc pallor
145258	GSC	HP:0020206	Simple ear
145258	GSC	HP:0001249	Intellectual disability
145258	GSC	HP:0000028	Cryptorchidism
145258	GSC	HP:0008785	Delayed ossification of pubic rami
145258	GSC	HP:0000007	Autosomal recessive inheritance
145258	GSC	HP:0002643	Neonatal respiratory distress
145258	GSC	HP:0008905	Rhizomelia
145258	GSC	HP:0000160	Narrow mouth
145258	GSC	HP:0003375	Narrow greater sciatic notch
145258	GSC	HP:0003577	Congenital onset
145258	GSC	HP:0011968	Feeding difficulties
145258	GSC	HP:0000601	Hypotelorism
145258	GSC	HP:0004322	Short stature
145258	GSC	HP:0003083	Dislocated radial head
145258	GSC	HP:0003015	Flared metaphysis
145258	GSC	HP:0003022	Hypoplasia of the ulna
145258	GSC	HP:0004467	Preauricular pit
145258	GSC	HP:0005792	Short humerus
145258	GSC	HP:0000882	Hypoplastic scapulae
145258	GSC	HP:0034392	Joint contracture
145258	GSC	HP:0000272	Malar flattening
145258	GSC	HP:0002827	Hip dislocation
145258	GSC	HP:0000252	Microcephaly
145258	GSC	HP:0000218	High palate
145258	GSC	HP:0006595	Scapulohumeral synostosis
145258	GSC	HP:0002938	Lumbar hyperlordosis
145258	GSC	HP:0000347	Micrognathia
145258	GSC	HP:0000405	Conductive hearing impairment
145258	GSC	HP:0000494	Downslanted palpebral fissures
145258	GSC	HP:0000490	Deeply set eye
145258	GSC	HP:0000413	Atresia of the external auditory canal
145258	GSC	HP:0001762	Talipes equinovarus
145264	SERPINA12	HP:0007447	Diffuse palmoplantar hyperkeratosis
145264	SERPINA12	HP:0007390	Hyperkeratosis with erythema
145624	PWAR1	HP:0001159	Syndactyly
145624	PWAR1	HP:0007328	Impaired pain sensation
145624	PWAR1	HP:0003745	Sporadic
145624	PWAR1	HP:0001290	Generalized hypotonia
145624	PWAR1	HP:0001270	Motor delay
145624	PWAR1	HP:0001250	Seizure
145624	PWAR1	HP:0001249	Intellectual disability
145624	PWAR1	HP:0002591	Polyphagia
145624	PWAR1	HP:0001263	Global developmental delay
145624	PWAR1	HP:0000064	Hypoplastic labia minora
145624	PWAR1	HP:0000060	Clitoral hypoplasia
145624	PWAR1	HP:0000044	Hypogonadotropic hypogonadism
145624	PWAR1	HP:0000046	Small scrotum
145624	PWAR1	HP:0000054	Micropenis
145624	PWAR1	HP:0001385	Hip dysplasia
145624	PWAR1	HP:0000028	Cryptorchidism
145624	PWAR1	HP:0008872	Feeding difficulties in infancy
145624	PWAR1	HP:0007513	Generalized hypopigmentation
145624	PWAR1	HP:0001328	Specific learning disability
145624	PWAR1	HP:0000006	Autosomal dominant inheritance
145624	PWAR1	HP:0002650	Scoliosis
145624	PWAR1	HP:0001319	Neonatal hypotonia
145624	PWAR1	HP:0002791	Hypoventilation
145624	PWAR1	HP:0002714	Downturned corners of mouth
145624	PWAR1	HP:0002033	Poor suck
145624	PWAR1	HP:0005968	Temperature instability
145624	PWAR1	HP:0005978	Type II diabetes mellitus
145624	PWAR1	HP:0030919	Low 5-minute APGAR score
145624	PWAR1	HP:0030918	Low 1-minute APGAR score
145624	PWAR1	HP:0009466	Radial deviation of finger
145624	PWAR1	HP:0002119	Ventriculomegaly
145624	PWAR1	HP:0010535	Sleep apnea
145624	PWAR1	HP:0003577	Congenital onset
145624	PWAR1	HP:0002236	Frontal upsweep of hair
145624	PWAR1	HP:0100716	Self-injurious behavior
145624	PWAR1	HP:0002205	Recurrent respiratory infections
145624	PWAR1	HP:0007010	Poor fine motor coordination
145624	PWAR1	HP:0007015	Poor gross motor coordination
145624	PWAR1	HP:0007018	Attention deficit hyperactivity disorder
145624	PWAR1	HP:0002360	Sleep disturbance
145624	PWAR1	HP:0001010	Hypopigmentation of the skin
145624	PWAR1	HP:0200055	Small hand
145624	PWAR1	HP:0033454	Tube feeding
145624	PWAR1	HP:0031878	Acromicria
145624	PWAR1	HP:0004283	Narrow palm
145624	PWAR1	HP:0005599	Hypopigmentation of hair
145624	PWAR1	HP:0004279	Short palm
145624	PWAR1	HP:0000670	Carious teeth
145624	PWAR1	HP:0004322	Short stature
145624	PWAR1	HP:0012743	Abdominal obesity
145624	PWAR1	HP:0000750	Delayed speech and language development
145624	PWAR1	HP:0000717	Autism
145624	PWAR1	HP:0000709	Psychosis
145624	PWAR1	HP:0011461	Fetal onset
145624	PWAR1	HP:0000789	Infertility
145624	PWAR1	HP:0000786	Primary amenorrhea
145624	PWAR1	HP:0003199	Decreased muscle mass
145624	PWAR1	HP:0000876	Oligomenorrhea
145624	PWAR1	HP:0000846	Adrenal insufficiency
145624	PWAR1	HP:0000842	Hyperinsulinemia
145624	PWAR1	HP:0000826	Precocious puberty
145624	PWAR1	HP:0000824	Decreased response to growth hormone stimulation test
145624	PWAR1	HP:0000823	Delayed puberty
145624	PWAR1	HP:0003241	External genital hypoplasia
145624	PWAR1	HP:0000992	Cutaneous photosensitivity
145624	PWAR1	HP:0000939	Osteoporosis
145624	PWAR1	HP:0000938	Osteopenia
145624	PWAR1	HP:0000268	Dolichocephaly
145624	PWAR1	HP:0007730	Iris hypopigmentation
145624	PWAR1	HP:0030084	Clinodactyly
145624	PWAR1	HP:0002808	Kyphosis
145624	PWAR1	HP:0000219	Thin upper lip vermilion
145624	PWAR1	HP:0001562	Oligohydramnios
145624	PWAR1	HP:0001561	Polyhydramnios
145624	PWAR1	HP:0001558	Decreased fetal movement
145624	PWAR1	HP:0001531	Failure to thrive in infancy
145624	PWAR1	HP:0002857	Genu valgum
145624	PWAR1	HP:0001511	Intrauterine growth retardation
145624	PWAR1	HP:0001513	Obesity
145624	PWAR1	HP:0007874	Almond-shaped palpebral fissure
145624	PWAR1	HP:0000341	Narrow forehead
145624	PWAR1	HP:0001623	Breech presentation
145624	PWAR1	HP:0000486	Strabismus
145624	PWAR1	HP:0001773	Short foot
145624	PWAR1	HP:0000446	Narrow nasal bridge
145624	PWAR1	HP:0000582	Upslanted palpebral fissure
145624	PWAR1	HP:0000565	Esotropia
145624	PWAR1	HP:0000540	Hypermetropia
145624	PWAR1	HP:0000545	Myopia
145645	TERB2	HP:0031038	Spermatogenesis maturation arrest
145645	TERB2	HP:0000007	Autosomal recessive inheritance
145645	TERB2	HP:0011961	Non-obstructive azoospermia
145645	TERB2	HP:0011462	Young adult onset
145645	TERB2	HP:0003251	Male infertility
145873	MESP2	HP:0002435	Meningocele
145873	MESP2	HP:0001249	Intellectual disability
145873	MESP2	HP:0006101	Finger syndactyly
145873	MESP2	HP:0010978	Abnormality of immune system physiology
145873	MESP2	HP:0000069	Abnormality of the ureter
145873	MESP2	HP:0000047	Hypospadias
145873	MESP2	HP:0000023	Inguinal hernia
145873	MESP2	HP:0000028	Cryptorchidism
145873	MESP2	HP:0000008	Abnormal morphology of female internal genitalia
145873	MESP2	HP:0000007	Autosomal recessive inheritance
145873	MESP2	HP:0002650	Scoliosis
145873	MESP2	HP:0000175	Cleft palate
145873	MESP2	HP:0002751	Kyphoscoliosis
145873	MESP2	HP:0003312	Abnormal form of the vertebral bodies
145873	MESP2	HP:0003310	Abnormality of the odontoid process
145873	MESP2	HP:0003305	Block vertebrae
145873	MESP2	HP:0002093	Respiratory insufficiency
145873	MESP2	HP:0002091	Restrictive ventilatory defect
145873	MESP2	HP:0100589	Urogenital fistula
145873	MESP2	HP:0003422	Vertebral segmentation defect
145873	MESP2	HP:0003418	Back pain
145873	MESP2	HP:0100490	Camptodactyly of finger
145873	MESP2	HP:0002205	Recurrent respiratory infections
145873	MESP2	HP:0003510	Severe short stature
145873	MESP2	HP:0003521	Disproportionate short-trunk short stature
145873	MESP2	HP:0010772	Anomalous pulmonary venous return
145873	MESP2	HP:0008428	Vertebral clefting
145873	MESP2	HP:0004322	Short stature
145873	MESP2	HP:0030680	Abnormality of cardiovascular system morphology
145873	MESP2	HP:0000772	Abnormal rib morphology
145873	MESP2	HP:0011461	Fetal onset
145873	MESP2	HP:0000776	Congenital diaphragmatic hernia
145873	MESP2	HP:0000902	Rib fusion
145873	MESP2	HP:0003298	Spina bifida occulta
145873	MESP2	HP:0003270	Abdominal distention
145873	MESP2	HP:0010306	Short thorax
145873	MESP2	HP:0000256	Macrocephaly
145873	MESP2	HP:0000269	Prominent occiput
145873	MESP2	HP:0005108	Abnormal intervertebral disk morphology
145873	MESP2	HP:0002808	Kyphosis
145873	MESP2	HP:0000252	Microcephaly
145873	MESP2	HP:0001522	Death in infancy
145873	MESP2	HP:0001537	Umbilical hernia
145873	MESP2	HP:0001538	Protuberant abdomen
145873	MESP2	HP:0001511	Intrauterine growth retardation
145873	MESP2	HP:0002937	Hemivertebrae
145873	MESP2	HP:0002948	Vertebral fusion
145873	MESP2	HP:0000368	Low-set, posteriorly rotated ears
145873	MESP2	HP:0000343	Long philtrum
145873	MESP2	HP:0000337	Broad forehead
145873	MESP2	HP:0006655	Rib segmentation abnormalities
145873	MESP2	HP:0005280	Depressed nasal bridge
145873	MESP2	HP:0000476	Cystic hygroma
145873	MESP2	HP:0000463	Anteverted nares
145873	MESP2	HP:0000470	Short neck
146057	TTBK2	HP:0007256	Abnormal pyramidal sign
146057	TTBK2	HP:0001272	Cerebellar atrophy
146057	TTBK2	HP:0001260	Dysarthria
146057	TTBK2	HP:0001347	Hyperreflexia
146057	TTBK2	HP:0001332	Dystonia
146057	TTBK2	HP:0000006	Autosomal dominant inheritance
146057	TTBK2	HP:0002015	Dysphagia
146057	TTBK2	HP:0002066	Gait ataxia
146057	TTBK2	HP:0002078	Truncal ataxia
146057	TTBK2	HP:0002073	Progressive cerebellar ataxia
146057	TTBK2	HP:0002070	Limb ataxia
146057	TTBK2	HP:0002141	Gait imbalance
146057	TTBK2	HP:0010544	Vertical nystagmus
146057	TTBK2	HP:0003584	Late onset
146057	TTBK2	HP:0002355	Difficulty walking
146057	TTBK2	HP:0009830	Peripheral neuropathy
146057	TTBK2	HP:0003621	Juvenile onset
146057	TTBK2	HP:0000639	Nystagmus
146057	TTBK2	HP:0000666	Horizontal nystagmus
146057	TTBK2	HP:0011462	Young adult onset
146057	TTBK2	HP:0008003	Jerky ocular pursuit movements
146059	CDAN1	HP:0001159	Syndactyly
146059	CDAN1	HP:0010972	Anemia of inadequate production
146059	CDAN1	HP:0000007	Autosomal recessive inheritance
146059	CDAN1	HP:0012132	Erythroid hyperplasia
146059	CDAN1	HP:0025435	Increased circulating lactate dehydrogenase concentration
146059	CDAN1	HP:0003352	Endopolyploidy on chromosome studies of bone marrow
146059	CDAN1	HP:0003577	Congenital onset
146059	CDAN1	HP:0002240	Hepatomegaly
146059	CDAN1	HP:0003655	Reduced level of N-acetylglucosaminyltransferase II
146059	CDAN1	HP:0020122	Bite cells
146059	CDAN1	HP:0005532	Macrocytic dyserythropoietic anemia
146059	CDAN1	HP:0001981	Schistocytosis
146059	CDAN1	HP:0001923	Reticulocytosis
146059	CDAN1	HP:0004447	Poikilocytosis
146059	CDAN1	HP:0001530	Mild postnatal growth retardation
146059	CDAN1	HP:0001518	Small for gestational age
146059	CDAN1	HP:0006579	Prolonged neonatal jaundice
146059	CDAN1	HP:0002904	Hyperbilirubinemia
146059	CDAN1	HP:0001789	Hydrops fetalis
146059	CDAN1	HP:0001744	Splenomegaly
146059	CDAN1	HP:0011273	Anisocytosis
146059	CDAN1	HP:0001878	Hemolytic anemia
146167	SLC38A8	HP:0001137	Alternating esotropia
146167	SLC38A8	HP:0000007	Autosomal recessive inheritance
146167	SLC38A8	HP:0001492	Axenfeld anomaly
146167	SLC38A8	HP:0007663	Reduced visual acuity
146167	SLC38A8	HP:0003593	Infantile onset
146167	SLC38A8	HP:0000639	Nystagmus
146167	SLC38A8	HP:0000627	Posterior embryotoxon
146167	SLC38A8	HP:0008001	Foveal hyperpigmentation
146167	SLC38A8	HP:0025551	Optic nerve misrouting
146167	SLC38A8	HP:0007750	Hypoplasia of the fovea
146167	SLC38A8	HP:0000483	Astigmatism
146167	SLC38A8	HP:0000486	Strabismus
146167	SLC38A8	HP:0000568	Microphthalmia
146183	OTOA	HP:0000007	Autosomal recessive inheritance
146183	OTOA	HP:0000407	Sensorineural hearing impairment
146206	CARMIL2	HP:0100838	Recurrent cutaneous abscess formation
146206	CARMIL2	HP:0002583	Colitis
146206	CARMIL2	HP:0000007	Autosomal recessive inheritance
146206	CARMIL2	HP:0410135	Cold urticaria
146206	CARMIL2	HP:0031292	Cutaneous abscess
146206	CARMIL2	HP:0002788	Recurrent upper respiratory tract infections
146206	CARMIL2	HP:0002728	Chronic mucocutaneous candidiasis
146206	CARMIL2	HP:0002028	Chronic diarrhea
146206	CARMIL2	HP:0002015	Dysphagia
146206	CARMIL2	HP:0002099	Asthma
146206	CARMIL2	HP:0003394	Muscle spasm
146206	CARMIL2	HP:0100518	Dysuria
146206	CARMIL2	HP:0002110	Bronchiectasis
146206	CARMIL2	HP:0003593	Infantile onset
146206	CARMIL2	HP:0002205	Recurrent respiratory infections
146206	CARMIL2	HP:0001051	Seborrheic dermatitis
146206	CARMIL2	HP:0001075	Atrophic scars
146206	CARMIL2	HP:0200043	Verrucae
146206	CARMIL2	HP:0100633	Esophagitis
146206	CARMIL2	HP:0032140	Decreased specific antibody response to vaccination
146206	CARMIL2	HP:0032163	Molluscum contagiosum
146206	CARMIL2	HP:0003623	Neonatal onset
146206	CARMIL2	HP:0004322	Short stature
146206	CARMIL2	HP:0004313	Decreased circulating antibody level
146206	CARMIL2	HP:0011463	Childhood onset
146206	CARMIL2	HP:0003193	Allergic rhinitis
146206	CARMIL2	HP:0004469	Chronic bronchitis
146206	CARMIL2	HP:0000992	Cutaneous photosensitivity
146206	CARMIL2	HP:0000964	Eczema
146206	CARMIL2	HP:0008064	Ichthyosis
146206	CARMIL2	HP:0040189	Scaling skin
146206	CARMIL2	HP:0025526	Psoriasiform lesion
146206	CARMIL2	HP:0012203	Onychomycosis
146206	CARMIL2	HP:0001508	Failure to thrive
146206	CARMIL2	HP:0006510	Chronic pulmonary obstruction
146206	CARMIL2	HP:0012378	Fatigue
146206	CARMIL2	HP:0000389	Chronic otitis media
146206	CARMIL2	HP:0006532	Recurrent pneumonia
146206	CARMIL2	HP:0005202	Helicobacter pylori infection
146206	CARMIL2	HP:0011107	Recurrent aphthous stomatitis
146206	CARMIL2	HP:0001742	Nasal congestion
146206	CARMIL2	HP:0005419	Decreased T cell activation
146227	BEAN1	HP:0002495	Impaired vibratory sensation
146227	BEAN1	HP:0001272	Cerebellar atrophy
146227	BEAN1	HP:0001251	Ataxia
146227	BEAN1	HP:0001265	Hyporeflexia
146227	BEAN1	HP:0001260	Dysarthria
146227	BEAN1	HP:0001257	Spasticity
146227	BEAN1	HP:0001347	Hyperreflexia
146227	BEAN1	HP:0001337	Tremor
146227	BEAN1	HP:0000006	Autosomal dominant inheritance
146227	BEAN1	HP:0002066	Gait ataxia
146227	BEAN1	HP:0002070	Limb ataxia
146227	BEAN1	HP:0003584	Late onset
146227	BEAN1	HP:0006801	Hyperactive deep tendon reflexes
146227	BEAN1	HP:0000639	Nystagmus
146227	BEAN1	HP:0000365	Hearing impairment
146227	BEAN1	HP:0007979	Gaze-evoked horizontal nystagmus
146227	BEAN1	HP:0000407	Sensorineural hearing impairment
146754	DNAH2	HP:0000007	Autosomal recessive inheritance
146754	DNAH2	HP:0032558	Absent sperm flagella
146754	DNAH2	HP:0032559	Short sperm flagella
146754	DNAH2	HP:0032560	Coiled sperm flagella
146754	DNAH2	HP:0003251	Male infertility
146754	DNAH2	HP:0012207	Reduced sperm motility
146845	CFAP52	HP:0000007	Autosomal recessive inheritance
146845	CFAP52	HP:0003363	Abdominal situs inversus
146845	CFAP52	HP:0012735	Cough
146845	CFAP52	HP:0003251	Male infertility
146845	CFAP52	HP:0033036	Decreased nasal nitric oxide
146845	CFAP52	HP:0001696	Situs inversus totalis
146845	CFAP52	HP:0001651	Dextrocardia
146845	CFAP52	HP:0000403	Recurrent otitis media
146845	CFAP52	HP:0011109	Chronic sinusitis
146862	UNC45B	HP:0020203	Z-band streaming
146862	UNC45B	HP:0003724	Shoulder girdle muscle atrophy
146862	UNC45B	HP:0003701	Proximal muscle weakness
146862	UNC45B	HP:0003700	Generalized amyotrophy
146862	UNC45B	HP:0032341	Reduced forced vital capacity
146862	UNC45B	HP:0003803	Type 1 muscle fiber predominance
146862	UNC45B	HP:0008872	Feeding difficulties in infancy
146862	UNC45B	HP:0000006	Autosomal dominant inheritance
146862	UNC45B	HP:0008981	Calf muscle hypertrophy
146862	UNC45B	HP:0003327	Axial muscle weakness
146862	UNC45B	HP:0002015	Dysphagia
146862	UNC45B	HP:0003391	Gowers sign
146862	UNC45B	HP:0003458	EMG: myopathic abnormalities
146862	UNC45B	HP:0003593	Infantile onset
146862	UNC45B	HP:0003577	Congenital onset
146862	UNC45B	HP:0003557	Increased variability in muscle fiber diameter
146862	UNC45B	HP:0034635	Muscle fiber granulofilamentous inclusion bodies
146862	UNC45B	HP:0003687	Centrally nucleated skeletal muscle fibers
146862	UNC45B	HP:0011463	Childhood onset
146862	UNC45B	HP:0007787	Posterior subcapsular cataract
146862	UNC45B	HP:0001558	Decreased fetal movement
146862	UNC45B	HP:0025502	Overweight
146862	UNC45B	HP:0012378	Fatigue
146862	UNC45B	HP:0001680	Coarctation of aorta
147007	TMEM199	HP:0001290	Generalized hypotonia
147007	TMEM199	HP:0001263	Global developmental delay
147007	TMEM199	HP:0001397	Hepatic steatosis
147007	TMEM199	HP:0000007	Autosomal recessive inheritance
147007	TMEM199	HP:0001410	Decreased liver function
147007	TMEM199	HP:0010837	Decreased circulating ceruloplasmin concentration
147007	TMEM199	HP:0003124	Hypercholesterolemia
147007	TMEM199	HP:0003155	Elevated circulating alkaline phosphatase concentration
147007	TMEM199	HP:0003141	Increased LDL cholesterol concentration
147007	TMEM199	HP:0012358	Abnormal protein O-linked glycosylation
147007	TMEM199	HP:0002910	Elevated hepatic transaminase
147007	TMEM199	HP:0012347	Abnormal protein N-linked glycosylation
147138	TMC8	HP:0007565	Multiple cafe-au-lait spots
147138	TMC8	HP:0000007	Autosomal recessive inheritance
147138	TMC8	HP:0002715	Abnormality of the immune system
147138	TMC8	HP:0550004	Verruca plana
147138	TMC8	HP:0100585	Telangiectasia of the skin
147138	TMC8	HP:0001051	Seborrheic dermatitis
147138	TMC8	HP:0001053	Hypopigmented skin patches
147138	TMC8	HP:0200035	Skin plaque
147138	TMC8	HP:0200034	Papule
147138	TMC8	HP:0200039	Pustule
147138	TMC8	HP:0200043	Verrucae
147138	TMC8	HP:0020114	Persistent human papillomavirus infection
147138	TMC8	HP:0001581	Recurrent skin infections
147138	TMC8	HP:0002860	Squamous cell carcinoma
147138	TMC8	HP:0006739	Squamous cell carcinoma of the skin
147183	KRT25	HP:0009886	Trichorrhexis nodosa
147183	KRT25	HP:0000007	Autosomal recessive inheritance
147183	KRT25	HP:0002224	Woolly hair
147183	KRT25	HP:0002217	Slow-growing hair
147183	KRT25	HP:0002231	Sparse body hair
147183	KRT25	HP:0002212	Curly hair
147183	KRT25	HP:0002213	Fine hair
147183	KRT25	HP:0002209	Sparse scalp hair
147183	KRT25	HP:0010719	Abnormality of hair texture
147183	KRT25	HP:0002299	Brittle hair
147183	KRT25	HP:0005599	Hypopigmentation of hair
147183	KRT25	HP:0000615	Abnormal pupil morphology
147183	KRT25	HP:0000653	Sparse eyelashes
147183	KRT25	HP:0008070	Sparse hair
147183	KRT25	HP:0005338	Sparse lateral eyebrow
147183	KRT25	HP:0000486	Strabismus
147183	KRT25	HP:0000479	Abnormal retinal morphology
147183	KRT25	HP:0000518	Cataract
147372	CCBE1	HP:0008572	External ear malformation
147372	CCBE1	HP:0100835	Benign neoplasm of the central nervous system
147372	CCBE1	HP:0001250	Seizure
147372	CCBE1	HP:0001249	Intellectual disability
147372	CCBE1	HP:0002593	Intestinal lymphangiectasia
147372	CCBE1	HP:0001263	Global developmental delay
147372	CCBE1	HP:0006101	Finger syndactyly
147372	CCBE1	HP:0000086	Ectopic kidney
147372	CCBE1	HP:0000085	Horseshoe kidney
147372	CCBE1	HP:0000076	Vesicoureteral reflux
147372	CCBE1	HP:0001363	Craniosynostosis
147372	CCBE1	HP:0000028	Cryptorchidism
147372	CCBE1	HP:0000007	Autosomal recessive inheritance
147372	CCBE1	HP:0001302	Pachygyria
147372	CCBE1	HP:0002650	Scoliosis
147372	CCBE1	HP:0000189	Narrow palate
147372	CCBE1	HP:0000160	Narrow mouth
147372	CCBE1	HP:0007598	Bilateral single transverse palmar creases
147372	CCBE1	HP:0000126	Hydronephrosis
147372	CCBE1	HP:0002750	Delayed skeletal maturation
147372	CCBE1	HP:0002716	Lymphadenopathy
147372	CCBE1	HP:0002024	Malabsorption
147372	CCBE1	HP:0002021	Pyloric stenosis
147372	CCBE1	HP:0002035	Rectal prolapse
147372	CCBE1	HP:0100539	Periorbital edema
147372	CCBE1	HP:0002093	Respiratory insufficiency
147372	CCBE1	HP:0009473	Joint contracture of the hand
147372	CCBE1	HP:0002194	Delayed gross motor development
147372	CCBE1	HP:0100490	Camptodactyly of finger
147372	CCBE1	HP:0010554	Cutaneous finger syndactyly
147372	CCBE1	HP:0008229	Thyroid lymphangiectasia
147372	CCBE1	HP:0011830	Abnormal oral mucosa morphology
147372	CCBE1	HP:0002243	Protein-losing enteropathy
147372	CCBE1	HP:0002215	Sparse axillary hair
147372	CCBE1	HP:0002202	Pleural effusion
147372	CCBE1	HP:0002205	Recurrent respiratory infections
147372	CCBE1	HP:0100764	Lymphangioma
147372	CCBE1	HP:0001055	Erysipelas
147372	CCBE1	HP:0001004	Lymphedema
147372	CCBE1	HP:0001007	Hirsutism
147372	CCBE1	HP:0009804	Tooth agenesis
147372	CCBE1	HP:0200055	Small hand
147372	CCBE1	HP:0004279	Short palm
147372	CCBE1	HP:0000684	Delayed eruption of teeth
147372	CCBE1	HP:0000677	Oligodontia
147372	CCBE1	HP:0001999	Abnormal facial shape
147372	CCBE1	HP:0004313	Decreased circulating antibody level
147372	CCBE1	HP:0003073	Hypoalbuminemia
147372	CCBE1	HP:0000752	Hyperactivity
147372	CCBE1	HP:0000767	Pectus excavatum
147372	CCBE1	HP:0100026	Arteriovenous malformation
147372	CCBE1	HP:0000774	Narrow chest
147372	CCBE1	HP:0004440	Coronal craniosynostosis
147372	CCBE1	HP:0003298	Spina bifida occulta
147372	CCBE1	HP:0010310	Chylothorax
147372	CCBE1	HP:0000286	Epicanthus
147372	CCBE1	HP:0000278	Retrognathia
147372	CCBE1	HP:0000272	Malar flattening
147372	CCBE1	HP:0000212	Gingival overgrowth
147372	CCBE1	HP:0001530	Mild postnatal growth retardation
147372	CCBE1	HP:0001541	Ascites
147372	CCBE1	HP:0001537	Umbilical hernia
147372	CCBE1	HP:0002866	Hypoplastic iliac wing
147372	CCBE1	HP:0011069	Supernumerary tooth
147372	CCBE1	HP:0011065	Conical incisor
147372	CCBE1	HP:0012385	Camptodactyly
147372	CCBE1	HP:0012368	Flat face
147372	CCBE1	HP:0006531	Pleural lymphangiectasia
147372	CCBE1	HP:0006521	Pulmonary lymphangiectasia
147372	CCBE1	HP:0005183	Pericardial lymphangiectasia
147372	CCBE1	HP:0002901	Hypocalcemia
147372	CCBE1	HP:0006482	Abnormality of dental morphology
147372	CCBE1	HP:0001698	Pericardial effusion
147372	CCBE1	HP:0000369	Low-set ears
147372	CCBE1	HP:0000337	Broad forehead
147372	CCBE1	HP:0000319	Smooth philtrum
147372	CCBE1	HP:0000316	Hypertelorism
147372	CCBE1	HP:0000322	Short philtrum
147372	CCBE1	HP:0001629	Ventricular septal defect
147372	CCBE1	HP:0001631	Atrial septal defect
147372	CCBE1	HP:0000407	Sensorineural hearing impairment
147372	CCBE1	HP:0000405	Conductive hearing impairment
147372	CCBE1	HP:0005280	Depressed nasal bridge
147372	CCBE1	HP:0001790	Nonimmune hydrops fetalis
147372	CCBE1	HP:0001789	Hydrops fetalis
147372	CCBE1	HP:0001773	Short foot
147372	CCBE1	HP:0001744	Splenomegaly
147372	CCBE1	HP:0001760	Abnormal foot morphology
147372	CCBE1	HP:0001762	Talipes equinovarus
147372	CCBE1	HP:0000431	Wide nasal bridge
147372	CCBE1	HP:0000501	Glaucoma
147372	CCBE1	HP:0001888	Lymphopenia
147409	DSG4	HP:0003777	Pili torti
147409	DSG4	HP:0001249	Intellectual disability
147409	DSG4	HP:0007502	Follicular hyperkeratosis
147409	DSG4	HP:0000007	Autosomal recessive inheritance
147409	DSG4	HP:0000164	Abnormality of the dentition
147409	DSG4	HP:0100543	Cognitive impairment
147409	DSG4	HP:0003577	Congenital onset
147409	DSG4	HP:0002217	Slow-growing hair
147409	DSG4	HP:0002232	Patchy alopecia
147409	DSG4	HP:0002231	Sparse body hair
147409	DSG4	HP:0002213	Fine hair
147409	DSG4	HP:0002209	Sparse scalp hair
147409	DSG4	HP:0002299	Brittle hair
147409	DSG4	HP:0100753	Schizophrenia
147409	DSG4	HP:0010783	Erythema
147409	DSG4	HP:0000653	Sparse eyelashes
147409	DSG4	HP:0045075	Sparse eyebrow
147409	DSG4	HP:0000989	Pruritus
147409	DSG4	HP:0008070	Sparse hair
147409	DSG4	HP:0001597	Abnormality of the nail
147409	DSG4	HP:0001596	Alopecia
147409	DSG4	HP:0000499	Abnormal eyelash morphology
147409	DSG4	HP:0000518	Cataract
147409	DSG4	HP:0000534	Abnormal eyebrow morphology
147495	APCDD1	HP:0000006	Autosomal dominant inheritance
147495	APCDD1	HP:0000164	Abnormality of the dentition
147495	APCDD1	HP:0002215	Sparse axillary hair
147495	APCDD1	HP:0002231	Sparse body hair
147495	APCDD1	HP:0002225	Sparse pubic hair
147495	APCDD1	HP:0002209	Sparse scalp hair
147495	APCDD1	HP:0000653	Sparse eyelashes
147495	APCDD1	HP:0011463	Childhood onset
147495	APCDD1	HP:0045075	Sparse eyebrow
147495	APCDD1	HP:0000951	Abnormality of the skin
147495	APCDD1	HP:0008070	Sparse hair
147495	APCDD1	HP:0001597	Abnormality of the nail
147495	APCDD1	HP:0001596	Alopecia
147912	SIX5	HP:0008586	Hypoplasia of the cochlea
147912	SIX5	HP:0008572	External ear malformation
147912	SIX5	HP:0008678	Renal hypoplasia/aplasia
147912	SIX5	HP:0000083	Renal insufficiency
147912	SIX5	HP:0000076	Vesicoureteral reflux
147912	SIX5	HP:0000074	Ureteropelvic junction obstruction
147912	SIX5	HP:0000003	Multicystic kidney dysplasia
147912	SIX5	HP:0000006	Autosomal dominant inheritance
147912	SIX5	HP:0000175	Cleft palate
147912	SIX5	HP:0000126	Hydronephrosis
147912	SIX5	HP:0000110	Renal dysplasia
147912	SIX5	HP:0010628	Facial palsy
147912	SIX5	HP:0009796	Branchial cyst
147912	SIX5	HP:0011388	Enlarged cochlear aqueduct
147912	SIX5	HP:0011332	Hemifacial hypoplasia
147912	SIX5	HP:0011481	Abnormal lacrimal duct morphology
147912	SIX5	HP:0004452	Abnormality of the middle ear ossicles
147912	SIX5	HP:0000278	Retrognathia
147912	SIX5	HP:0000384	Preauricular skin tag
147912	SIX5	HP:0000365	Hearing impairment
147912	SIX5	HP:0000402	Stenosis of the external auditory canal
147912	SIX5	HP:0000413	Atresia of the external auditory canal
148022	TICAM1	HP:0025143	Chills
148022	TICAM1	HP:0001250	Seizure
148022	TICAM1	HP:0001262	Excessive daytime somnolence
148022	TICAM1	HP:0001259	Coma
148022	TICAM1	HP:0003829	Typified by incomplete penetrance
148022	TICAM1	HP:0001347	Hyperreflexia
148022	TICAM1	HP:0031179	Nuchal rigidity
148022	TICAM1	HP:0000007	Autosomal recessive inheritance
148022	TICAM1	HP:0000006	Autosomal dominant inheritance
148022	TICAM1	HP:0002721	Immunodeficiency
148022	TICAM1	HP:0002017	Nausea and vomiting
148022	TICAM1	HP:0030955	Alcoholism
148022	TICAM1	HP:0002133	Status epilepticus
148022	TICAM1	HP:0002181	Cerebral edema
148022	TICAM1	HP:0002167	Abnormality of speech or vocalization
148022	TICAM1	HP:0011897	Neutrophilia
148022	TICAM1	HP:0004887	Respiratory failure requiring assisted ventilation
148022	TICAM1	HP:0200149	CSF lymphocytic pleiocytosis
148022	TICAM1	HP:0011972	Hypoglycorrhachia
148022	TICAM1	HP:0002384	Focal impaired awareness seizure
148022	TICAM1	HP:0002353	EEG abnormality
148022	TICAM1	HP:0002349	Focal aware seizure
148022	TICAM1	HP:0002315	Headache
148022	TICAM1	HP:0007185	Loss of consciousness
148022	TICAM1	HP:0001974	Leukocytosis
148022	TICAM1	HP:0001945	Fever
148022	TICAM1	HP:0004302	Functional motor deficit
148022	TICAM1	HP:0004372	Reduced consciousness/confusion
148022	TICAM1	HP:0012378	Fatigue
148022	TICAM1	HP:0002922	Increased CSF protein concentration
148022	TICAM1	HP:0002902	Hyponatremia
148022	TICAM1	HP:0012302	Herpes simplex encephalitis
148022	TICAM1	HP:0012443	Abnormality of brain morphology
148022	TICAM1	HP:0011227	Elevated circulating C-reactive protein concentration
148738	HJV	HP:0001254	Lethargy
148738	HJV	HP:0007440	Generalized hyperpigmentation
148738	HJV	HP:0001394	Cirrhosis
148738	HJV	HP:0000044	Hypogonadotropic hypogonadism
148738	HJV	HP:0001369	Arthritis
148738	HJV	HP:0000027	Azoospermia
148738	HJV	HP:0012093	Abnormality of endocrine pancreas physiology
148738	HJV	HP:0001324	Muscle weakness
148738	HJV	HP:0000007	Autosomal recessive inheritance
148738	HJV	HP:0002612	Congenital hepatic fibrosis
148738	HJV	HP:0000141	Amenorrhea
148738	HJV	HP:0000135	Hypogonadism
148738	HJV	HP:0003452	Increased serum iron
148738	HJV	HP:0002240	Hepatomegaly
148738	HJV	HP:0000802	Impotence
148738	HJV	HP:0003040	Arthropathy
148738	HJV	HP:0011462	Young adult onset
148738	HJV	HP:0000789	Infertility
148738	HJV	HP:0000819	Diabetes mellitus
148738	HJV	HP:0003281	Increased circulating ferritin concentration
148738	HJV	HP:0000953	Hyperpigmentation of the skin
148738	HJV	HP:0000939	Osteoporosis
148738	HJV	HP:0011675	Arrhythmia
148738	HJV	HP:0011031	Abnormality of iron homeostasis
148738	HJV	HP:0002910	Elevated hepatic transaminase
148738	HJV	HP:0001644	Dilated cardiomyopathy
148738	HJV	HP:0001635	Congestive heart failure
148738	HJV	HP:0001638	Cardiomyopathy
148738	HJV	HP:0012463	Elevated transferrin saturation
148738	HJV	HP:0001744	Splenomegaly
148789	B3GALNT2	HP:0002435	Meningocele
148789	B3GALNT2	HP:0007260	Type II lissencephaly
148789	B3GALNT2	HP:0007227	Macrogyria
148789	B3GALNT2	HP:0001276	Hypertonia
148789	B3GALNT2	HP:0001274	Agenesis of corpus callosum
148789	B3GALNT2	HP:0001288	Gait disturbance
148789	B3GALNT2	HP:0001284	Areflexia
148789	B3GALNT2	HP:0001250	Seizure
148789	B3GALNT2	HP:0001252	Hypotonia
148789	B3GALNT2	HP:0001249	Intellectual disability
148789	B3GALNT2	HP:0001265	Hyporeflexia
148789	B3GALNT2	HP:0001263	Global developmental delay
148789	B3GALNT2	HP:0008736	Hypoplasia of penis
148789	B3GALNT2	HP:0007360	Aplasia/Hypoplasia of the cerebellum
148789	B3GALNT2	HP:0002536	Abnormal cortical gyration
148789	B3GALNT2	HP:0001360	Holoprosencephaly
148789	B3GALNT2	HP:0000028	Cryptorchidism
148789	B3GALNT2	HP:0001331	Absent septum pellucidum
148789	B3GALNT2	HP:0001328	Specific learning disability
148789	B3GALNT2	HP:0001324	Muscle weakness
148789	B3GALNT2	HP:0001339	Lissencephaly
148789	B3GALNT2	HP:0000007	Autosomal recessive inheritance
148789	B3GALNT2	HP:0001305	Dandy-Walker malformation
148789	B3GALNT2	HP:0001302	Pachygyria
148789	B3GALNT2	HP:0001321	Cerebellar hypoplasia
148789	B3GALNT2	HP:0000193	Bifid uvula
148789	B3GALNT2	HP:0000176	Submucous cleft hard palate
148789	B3GALNT2	HP:0000175	Cleft palate
148789	B3GALNT2	HP:0012110	Hypoplasia of the pons
148789	B3GALNT2	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
148789	B3GALNT2	HP:0100543	Cognitive impairment
148789	B3GALNT2	HP:0002119	Ventriculomegaly
148789	B3GALNT2	HP:0003457	EMG abnormality
148789	B3GALNT2	HP:0002126	Polymicrogyria
148789	B3GALNT2	HP:0002167	Abnormality of speech or vocalization
148789	B3GALNT2	HP:0010508	Metatarsus valgus
148789	B3GALNT2	HP:0003593	Infantile onset
148789	B3GALNT2	HP:0002269	Abnormality of neuronal migration
148789	B3GALNT2	HP:0003577	Congenital onset
148789	B3GALNT2	HP:0003560	Muscular dystrophy
148789	B3GALNT2	HP:0007033	Cerebellar dysplasia
148789	B3GALNT2	HP:0002365	Hypoplasia of the brainstem
148789	B3GALNT2	HP:0002353	EEG abnormality
148789	B3GALNT2	HP:0002352	Leukoencephalopathy
148789	B3GALNT2	HP:0002350	Cerebellar cyst
148789	B3GALNT2	HP:0002334	Abnormal cerebellar vermis morphology
148789	B3GALNT2	HP:0006829	Severe muscular hypotonia
148789	B3GALNT2	HP:0000648	Optic atrophy
148789	B3GALNT2	HP:0000618	Blindness
148789	B3GALNT2	HP:0000612	Iris coloboma
148789	B3GALNT2	HP:0000609	Optic nerve hypoplasia
148789	B3GALNT2	HP:0004374	Hemiplegia/hemiparesis
148789	B3GALNT2	HP:0100022	Abnormality of movement
148789	B3GALNT2	HP:0011463	Childhood onset
148789	B3GALNT2	HP:0003198	Myopathy
148789	B3GALNT2	HP:0040081	Abnormal circulating creatine kinase concentration
148789	B3GALNT2	HP:0003236	Elevated circulating creatine kinase concentration
148789	B3GALNT2	HP:0003202	Skeletal muscle atrophy
148789	B3GALNT2	HP:0045040	Abnormal lactate dehydrogenase level
148789	B3GALNT2	HP:0000256	Macrocephaly
148789	B3GALNT2	HP:0007731	Chorioretinal dysplasia
148789	B3GALNT2	HP:0000238	Hydrocephalus
148789	B3GALNT2	HP:0000252	Microcephaly
148789	B3GALNT2	HP:0001608	Abnormality of the voice
148789	B3GALNT2	HP:0000358	Posteriorly rotated ears
148789	B3GALNT2	HP:0000369	Low-set ears
148789	B3GALNT2	HP:0007957	Corneal opacity
148789	B3GALNT2	HP:0007973	Retinal dysplasia
148789	B3GALNT2	HP:0000486	Strabismus
148789	B3GALNT2	HP:0000482	Microcornea
148789	B3GALNT2	HP:0012400	Abnormal circulating aldolase concentration
148789	B3GALNT2	HP:0000411	Protruding ear
148789	B3GALNT2	HP:0000518	Cataract
148789	B3GALNT2	HP:0000528	Anophthalmia
148789	B3GALNT2	HP:0000505	Visual impairment
148789	B3GALNT2	HP:0000501	Glaucoma
148789	B3GALNT2	HP:0000587	Abnormal optic nerve morphology
148789	B3GALNT2	HP:0000556	Retinal dystrophy
148789	B3GALNT2	HP:0000568	Microphthalmia
148789	B3GALNT2	HP:0000541	Retinal detachment
148789	B3GALNT2	HP:0000545	Myopia
149233	IL23R	HP:0007256	Abnormal pyramidal sign
149233	IL23R	HP:0010885	Avascular necrosis
149233	IL23R	HP:0100820	Glomerulopathy
149233	IL23R	HP:0001269	Hemiparesis
149233	IL23R	HP:0001287	Meningitis
149233	IL23R	HP:0001289	Confusion
149233	IL23R	HP:0001288	Gait disturbance
149233	IL23R	HP:0001250	Seizure
149233	IL23R	HP:0001251	Ataxia
149233	IL23R	HP:0002516	Increased intracranial pressure
149233	IL23R	HP:0000083	Renal insufficiency
149233	IL23R	HP:0001369	Arthritis
149233	IL23R	HP:0001347	Hyperreflexia
149233	IL23R	HP:0002637	Cerebral ischemia
149233	IL23R	HP:0002633	Vasculitis
149233	IL23R	HP:0000155	Oral ulcer
149233	IL23R	HP:0001482	Subcutaneous nodule
149233	IL23R	HP:0002716	Lymphadenopathy
149233	IL23R	HP:0002024	Malabsorption
149233	IL23R	HP:0002017	Nausea and vomiting
149233	IL23R	HP:0002027	Abdominal pain
149233	IL23R	HP:0003326	Myalgia
149233	IL23R	HP:0002076	Migraine
149233	IL23R	HP:0002039	Anorexia
149233	IL23R	HP:0100584	Endocarditis
149233	IL23R	HP:0002102	Pleuritis
149233	IL23R	HP:0002113	Pulmonary infiltrates
149233	IL23R	HP:0002105	Hemoptysis
149233	IL23R	HP:0003401	Paresthesia
149233	IL23R	HP:0002239	Gastrointestinal hemorrhage
149233	IL23R	HP:0002202	Pleural effusion
149233	IL23R	HP:0002204	Pulmonary embolism
149233	IL23R	HP:0100796	Orchitis
149233	IL23R	HP:0100758	Gangrene
149233	IL23R	HP:0002383	Infectious encephalitis
149233	IL23R	HP:0001061	Acne
149233	IL23R	HP:0002376	Developmental regression
149233	IL23R	HP:0002354	Memory impairment
149233	IL23R	HP:0002321	Vertigo
149233	IL23R	HP:0100653	Optic neuritis
149233	IL23R	HP:0100654	Retrobulbar optic neuritis
149233	IL23R	HP:0200034	Papule
149233	IL23R	HP:0001097	Keratoconjunctivitis sicca
149233	IL23R	HP:0100614	Myositis
149233	IL23R	HP:0004936	Venous thrombosis
149233	IL23R	HP:0006824	Cranial nerve paralysis
149233	IL23R	HP:0000618	Blindness
149233	IL23R	HP:0000613	Photophobia
149233	IL23R	HP:0001945	Fever
149233	IL23R	HP:0012649	Increased inflammatory response
149233	IL23R	HP:0000737	Irritability
149233	IL23R	HP:0000708	Atypical behavior
149233	IL23R	HP:0004420	Arterial thrombosis
149233	IL23R	HP:0100326	Immunologic hypersensitivity
149233	IL23R	HP:0008066	Abnormal blistering of the skin
149233	IL23R	HP:0002829	Arthralgia
149233	IL23R	HP:0012378	Fatigue
149233	IL23R	HP:0001658	Myocardial infarction
149233	IL23R	HP:0001659	Aortic regurgitation
149233	IL23R	HP:0001653	Mitral regurgitation
149233	IL23R	HP:0001637	Abnormal myocardium morphology
149233	IL23R	HP:0001733	Pancreatitis
149233	IL23R	HP:0001701	Pericarditis
149233	IL23R	HP:0000488	Retinopathy
149233	IL23R	HP:0011107	Recurrent aphthous stomatitis
149233	IL23R	HP:0001744	Splenomegaly
149233	IL23R	HP:0000518	Cataract
149233	IL23R	HP:0001824	Weight loss
149371	EXOC8	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
149371	EXOC8	HP:0001276	Hypertonia
149371	EXOC8	HP:0001250	Seizure
149371	EXOC8	HP:0001252	Hypotonia
149371	EXOC8	HP:0001257	Spasticity
149371	EXOC8	HP:0002521	Hypsarrhythmia
149371	EXOC8	HP:0001371	Flexion contracture
149371	EXOC8	HP:0001347	Hyperreflexia
149371	EXOC8	HP:0001363	Craniosynostosis
149371	EXOC8	HP:0001324	Muscle weakness
149371	EXOC8	HP:0000007	Autosomal recessive inheritance
149371	EXOC8	HP:0002079	Hypoplasia of the corpus callosum
149371	EXOC8	HP:0002188	Delayed CNS myelination
149371	EXOC8	HP:0002190	Choroid plexus cyst
149371	EXOC8	HP:0011344	Severe global developmental delay
149371	EXOC8	HP:0000737	Irritability
149371	EXOC8	HP:0011421	Death in adolescence
149371	EXOC8	HP:0000252	Microcephaly
149371	EXOC8	HP:0032794	Myoclonic seizure
149371	EXOC8	HP:0000311	Round face
149371	EXOC8	HP:0012444	Brain atrophy
149371	EXOC8	HP:0000527	Long eyelashes
149371	EXOC8	HP:0000508	Ptosis
149371	EXOC8	HP:0000577	Exotropia
149371	EXOC8	HP:0000543	Optic disc pallor
149461	CLDN19	HP:0003774	Stage 5 chronic kidney disease
149461	CLDN19	HP:0001116	Macular coloboma
149461	CLDN19	HP:0000023	Inguinal hernia
149461	CLDN19	HP:0000010	Recurrent urinary tract infections
149461	CLDN19	HP:0000007	Autosomal recessive inheritance
149461	CLDN19	HP:0000121	Nephrocalcinosis
149461	CLDN19	HP:0000112	Nephropathy
149461	CLDN19	HP:0100530	Abnormal calcium-phosphate regulating hormone level
149461	CLDN19	HP:0002150	Hypercalciuria
149461	CLDN19	HP:0003593	Infantile onset
149461	CLDN19	HP:0003621	Juvenile onset
149461	CLDN19	HP:0005567	Renal magnesium wasting
149461	CLDN19	HP:0012622	Chronic kidney disease
149461	CLDN19	HP:0000639	Nystagmus
149461	CLDN19	HP:0012608	Hypermagnesiuria
149461	CLDN19	HP:0012637	Renal calcium wasting
149461	CLDN19	HP:0004363	Abnormal circulating calcium concentration
149461	CLDN19	HP:0000705	Amelogenesis imperfecta
149461	CLDN19	HP:0011463	Childhood onset
149461	CLDN19	HP:0000790	Hematuria
149461	CLDN19	HP:0000787	Nephrolithiasis
149461	CLDN19	HP:0007703	Abnormality of retinal pigmentation
149461	CLDN19	HP:0001537	Umbilical hernia
149461	CLDN19	HP:0002917	Hypomagnesemia
149461	CLDN19	HP:0000483	Astigmatism
149461	CLDN19	HP:0000486	Strabismus
149461	CLDN19	HP:0000510	Rod-cone dystrophy
149461	CLDN19	HP:0000567	Chorioretinal coloboma
149461	CLDN19	HP:0000545	Myopia
149775	GNAS-AS1	HP:0001156	Brachydactyly
149775	GNAS-AS1	HP:0003745	Sporadic
149775	GNAS-AS1	HP:0000006	Autosomal dominant inheritance
149775	GNAS-AS1	HP:0003456	Low urinary cyclic AMP response to PTH administration
149775	GNAS-AS1	HP:0010049	Short metacarpal
149775	GNAS-AS1	HP:0003165	Elevated circulating parathyroid hormone level
149775	GNAS-AS1	HP:0000852	Pseudohypoparathyroidism
149775	GNAS-AS1	HP:0001513	Obesity
149775	GNAS-AS1	HP:0002905	Hyperphosphatemia
149775	GNAS-AS1	HP:0002901	Hypocalcemia
150094	SIK1	HP:0010851	EEG with burst suppression
150094	SIK1	HP:0010850	EEG with spike-wave complexes
150094	SIK1	HP:0002421	Poor head control
150094	SIK1	HP:0001298	Encephalopathy
150094	SIK1	HP:0001272	Cerebellar atrophy
150094	SIK1	HP:0001254	Lethargy
150094	SIK1	HP:0001250	Seizure
150094	SIK1	HP:0001252	Hypotonia
150094	SIK1	HP:0001249	Intellectual disability
150094	SIK1	HP:0001266	Choreoathetosis
150094	SIK1	HP:0001263	Global developmental delay
150094	SIK1	HP:0001257	Spasticity
150094	SIK1	HP:0007359	Focal-onset seizure
150094	SIK1	HP:0002521	Hypsarrhythmia
150094	SIK1	HP:0002506	Diffuse cerebral atrophy
150094	SIK1	HP:0000070	Ureterocele
150094	SIK1	HP:0000054	Micropenis
150094	SIK1	HP:0001347	Hyperreflexia
150094	SIK1	HP:0001332	Dystonia
150094	SIK1	HP:0001344	Absent speech
150094	SIK1	HP:0001337	Tremor
150094	SIK1	HP:0000006	Autosomal dominant inheritance
150094	SIK1	HP:0001336	Myoclonus
150094	SIK1	HP:0001302	Pachygyria
150094	SIK1	HP:0000175	Cleft palate
150094	SIK1	HP:0008947	Infantile muscular hypotonia
150094	SIK1	HP:0000110	Renal dysplasia
150094	SIK1	HP:0002033	Poor suck
150094	SIK1	HP:0002015	Dysphagia
150094	SIK1	HP:0002098	Respiratory distress
150094	SIK1	HP:0002069	Bilateral tonic-clonic seizure
150094	SIK1	HP:0002079	Hypoplasia of the corpus callosum
150094	SIK1	HP:0002123	Generalized myoclonic seizure
150094	SIK1	HP:0002121	Generalized non-motor (absence) seizure
150094	SIK1	HP:0002131	Episodic ataxia
150094	SIK1	HP:0100716	Self-injurious behavior
150094	SIK1	HP:0002205	Recurrent respiratory infections
150094	SIK1	HP:0200134	Epileptic encephalopathy
150094	SIK1	HP:0011968	Feeding difficulties
150094	SIK1	HP:0002360	Sleep disturbance
150094	SIK1	HP:0002376	Developmental regression
150094	SIK1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
150094	SIK1	HP:0002353	EEG abnormality
150094	SIK1	HP:0007204	Diffuse white matter abnormalities
150094	SIK1	HP:0100660	Dyskinesia
150094	SIK1	HP:0010819	Atonic seizure
150094	SIK1	HP:0010818	Generalized tonic seizure
150094	SIK1	HP:0000752	Hyperactivity
150094	SIK1	HP:0000729	Autistic behavior
150094	SIK1	HP:0000707	Abnormality of the nervous system
150094	SIK1	HP:0010174	Broad phalanx of the toes
150094	SIK1	HP:0000826	Precocious puberty
150094	SIK1	HP:0009381	Short finger
150094	SIK1	HP:0000252	Microcephaly
150094	SIK1	HP:0001522	Death in infancy
150094	SIK1	HP:0001537	Umbilical hernia
150094	SIK1	HP:0001508	Failure to thrive
150094	SIK1	HP:0001500	Broad finger
150094	SIK1	HP:0000340	Sloping forehead
150094	SIK1	HP:0001629	Ventricular septal defect
150094	SIK1	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
150094	SIK1	HP:0011169	Generalized clonic seizure
150094	SIK1	HP:0011168	Focal seizure with eyelid myoclonia
150094	SIK1	HP:0011167	Focal tonic seizure
150094	SIK1	HP:0011153	Focal motor seizure
150094	SIK1	HP:0005280	Depressed nasal bridge
150094	SIK1	HP:0000486	Strabismus
150094	SIK1	HP:0012469	Infantile spasms
150094	SIK1	HP:0000463	Anteverted nares
150094	SIK1	HP:0012448	Delayed myelination
150094	SIK1	HP:0011121	Abnormality of skin morphology
150094	SIK1	HP:0012554	Absent thumbnail
150274	HSCB	HP:0000007	Autosomal recessive inheritance
150274	HSCB	HP:0004840	Hypochromic microcytic anemia
150274	HSCB	HP:0004828	Refractory anemia with ringed sideroblasts
150274	HSCB	HP:0003621	Juvenile onset
150274	HSCB	HP:0031851	Reduced hematocrit
150274	HSCB	HP:0001903	Anemia
150274	HSCB	HP:0001873	Thrombocytopenia
150274	HSCB	HP:0001875	Neutropenia
150365	MEI1	HP:0000007	Autosomal recessive inheritance
150365	MEI1	HP:0008222	Female infertility
150365	MEI1	HP:0032192	Hydatidiform mole
150365	MEI1	HP:0011462	Young adult onset
150468	CKAP2L	HP:0002451	Limb dystonia
150468	CKAP2L	HP:0001272	Cerebellar atrophy
150468	CKAP2L	HP:0001250	Seizure
150468	CKAP2L	HP:0001252	Hypotonia
150468	CKAP2L	HP:0001249	Intellectual disability
150468	CKAP2L	HP:0001263	Global developmental delay
150468	CKAP2L	HP:0001257	Spasticity
150468	CKAP2L	HP:0002558	Supernumerary nipple
150468	CKAP2L	HP:0006101	Finger syndactyly
150468	CKAP2L	HP:0000062	Ambiguous genitalia
150468	CKAP2L	HP:0001376	Limitation of joint mobility
150468	CKAP2L	HP:0000028	Cryptorchidism
150468	CKAP2L	HP:0008897	Postnatal growth retardation
150468	CKAP2L	HP:0001332	Dystonia
150468	CKAP2L	HP:0001328	Specific learning disability
150468	CKAP2L	HP:0000007	Autosomal recessive inheritance
150468	CKAP2L	HP:0007598	Bilateral single transverse palmar creases
150468	CKAP2L	HP:0002750	Delayed skeletal maturation
150468	CKAP2L	HP:0002007	Frontal bossing
150468	CKAP2L	HP:0010550	Paraplegia
150468	CKAP2L	HP:0010529	Echolalia
150468	CKAP2L	HP:0010580	Enlarged epiphyses
150468	CKAP2L	HP:0010714	2-4 toe syndactyly
150468	CKAP2L	HP:0010624	Aplastic/hypoplastic toenail
150468	CKAP2L	HP:0003510	Severe short stature
150468	CKAP2L	HP:0002381	Aphasia
150468	CKAP2L	HP:0010761	Broad columella
150468	CKAP2L	HP:0009765	Low hanging columella
150468	CKAP2L	HP:0002300	Mutism
150468	CKAP2L	HP:0004209	Clinodactyly of the 5th finger
150468	CKAP2L	HP:0000648	Optic atrophy
150468	CKAP2L	HP:0011335	Frontal hirsutism
150468	CKAP2L	HP:0000691	Microdontia
150468	CKAP2L	HP:0000668	Hypodontia
150468	CKAP2L	HP:0004325	Decreased body weight
150468	CKAP2L	HP:0004322	Short stature
150468	CKAP2L	HP:0012725	Cutaneous syndactyly
150468	CKAP2L	HP:0034270	Serrated incisors
150468	CKAP2L	HP:0040019	Finger clinodactyly
150468	CKAP2L	HP:0000998	Hypertrichosis
150468	CKAP2L	HP:0000954	Single transverse palmar crease
150468	CKAP2L	HP:0008070	Sparse hair
150468	CKAP2L	HP:0000252	Microcephaly
150468	CKAP2L	HP:0000233	Thin vermilion border
150468	CKAP2L	HP:0001511	Intrauterine growth retardation
150468	CKAP2L	HP:0001510	Growth delay
150468	CKAP2L	HP:0006482	Abnormality of dental morphology
150468	CKAP2L	HP:0000337	Broad forehead
150468	CKAP2L	HP:0000322	Short philtrum
150468	CKAP2L	HP:0001629	Ventricular septal defect
150468	CKAP2L	HP:0000494	Downslanted palpebral fissures
150468	CKAP2L	HP:0001792	Small nail
150468	CKAP2L	HP:0000445	Wide nose
150468	CKAP2L	HP:0000431	Wide nasal bridge
150468	CKAP2L	HP:0000430	Underdeveloped nasal alae
150468	CKAP2L	HP:0000426	Prominent nasal bridge
150468	CKAP2L	HP:0000520	Proptosis
150468	CKAP2L	HP:0000505	Visual impairment
150468	CKAP2L	HP:0011220	Prominent forehead
150468	CKAP2L	HP:0001864	Clinodactyly of the 5th toe
151188	ARL6IP6	HP:0100814	Blue nevus
151188	ARL6IP6	HP:0001250	Seizure
151188	ARL6IP6	HP:0006101	Finger syndactyly
151188	ARL6IP6	HP:0007565	Multiple cafe-au-lait spots
151188	ARL6IP6	HP:0000003	Multicystic kidney dysplasia
151188	ARL6IP6	HP:0002650	Scoliosis
151188	ARL6IP6	HP:0100545	Arterial stenosis
151188	ARL6IP6	HP:0100543	Cognitive impairment
151188	ARL6IP6	HP:0100555	Asymmetric growth
151188	ARL6IP6	HP:0100585	Telangiectasia of the skin
151188	ARL6IP6	HP:0100627	Displacement of the urethral meatus
151188	ARL6IP6	HP:0200041	Skin erosion
151188	ARL6IP6	HP:0001933	Subcutaneous hemorrhage
151188	ARL6IP6	HP:0004349	Reduced bone mineral density
151188	ARL6IP6	HP:0100026	Arteriovenous malformation
151188	ARL6IP6	HP:0000821	Hypothyroidism
151188	ARL6IP6	HP:0000979	Purpura
151188	ARL6IP6	HP:0000951	Abnormality of the skin
151188	ARL6IP6	HP:0000965	Cutis marmorata
151188	ARL6IP6	HP:0008065	Aplasia/Hypoplasia of the skin
151188	ARL6IP6	HP:0002817	Abnormality of the upper limb
151188	ARL6IP6	HP:0002814	Abnormality of the lower limb
151188	ARL6IP6	HP:0006385	Short lower limbs
151188	ARL6IP6	HP:0001541	Ascites
151188	ARL6IP6	HP:0000202	Orofacial cleft
151188	ARL6IP6	HP:0001511	Intrauterine growth retardation
151188	ARL6IP6	HP:0000347	Micrognathia
151188	ARL6IP6	HP:0001643	Patent ductus arteriosus
151188	ARL6IP6	HP:0005306	Capillary hemangioma
151188	ARL6IP6	HP:0001770	Toe syndactyly
151188	ARL6IP6	HP:0000555	Leukocoria
151188	ARL6IP6	HP:0000541	Retinal detachment
151254	C2CD6	HP:0011462	Young adult onset
151254	C2CD6	HP:0003251	Male infertility
151254	C2CD6	HP:0012205	Globozoospermia
151516	ASPRV1	HP:0100806	Sepsis
151516	ASPRV1	HP:0100840	Aplasia/Hypoplasia of the eyebrow
151516	ASPRV1	HP:0000083	Renal insufficiency
151516	ASPRV1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
151516	ASPRV1	HP:0000006	Autosomal dominant inheritance
151516	ASPRV1	HP:0000164	Abnormality of the dentition
151516	ASPRV1	HP:0100543	Cognitive impairment
151516	ASPRV1	HP:0002205	Recurrent respiratory infections
151516	ASPRV1	HP:0100758	Gangrene
151516	ASPRV1	HP:0001019	Erythroderma
151516	ASPRV1	HP:0100679	Lack of skin elasticity
151516	ASPRV1	HP:0001944	Dehydration
151516	ASPRV1	HP:0000656	Ectropion
151516	ASPRV1	HP:0004322	Short stature
151516	ASPRV1	HP:0000989	Pruritus
151516	ASPRV1	HP:0000958	Dry skin
151516	ASPRV1	HP:0000962	Hyperkeratosis
151516	ASPRV1	HP:0008070	Sparse hair
151516	ASPRV1	HP:0008064	Ichthyosis
151516	ASPRV1	HP:0001597	Abnormality of the nail
151516	ASPRV1	HP:0000232	Everted lower lip vermilion
151516	ASPRV1	HP:0011039	Abnormal helix morphology
151516	ASPRV1	HP:0000389	Chronic otitis media
151648	SGO1	HP:0000007	Autosomal recessive inheritance
151648	SGO1	HP:0031295	Left atrial enlargement
151648	SGO1	HP:0011704	Sick sinus syndrome
151648	SGO1	HP:0004749	Atrial flutter
151648	SGO1	HP:0003621	Juvenile onset
151648	SGO1	HP:0004325	Decreased body weight
151648	SGO1	HP:0004389	Intestinal pseudo-obstruction
151648	SGO1	HP:0011462	Young adult onset
151648	SGO1	HP:0005110	Atrial fibrillation
151648	SGO1	HP:0001508	Failure to thrive
151648	SGO1	HP:0005155	Ventricular escape rhythm
151648	SGO1	HP:0001647	Bicuspid aortic valve
151648	SGO1	HP:0001642	Pulmonic stenosis
151648	SGO1	HP:0001662	Bradycardia
151648	SGO1	HP:0001653	Mitral regurgitation
152110	NEK10	HP:0025177	Peribronchovascular interstitial thickening
152110	NEK10	HP:0002566	Intestinal malrotation
152110	NEK10	HP:0001217	Clubbing
152110	NEK10	HP:0032341	Reduced forced vital capacity
152110	NEK10	HP:0032342	Reduced forced expiratory volume in one second
152110	NEK10	HP:0000007	Autosomal recessive inheritance
152110	NEK10	HP:0002643	Neonatal respiratory distress
152110	NEK10	HP:0000119	Abnormality of the genitourinary system
152110	NEK10	HP:0032543	Lithoptysis
152110	NEK10	HP:0031245	Productive cough
152110	NEK10	HP:0002011	Morphological central nervous system abnormality
152110	NEK10	HP:0100582	Nasal polyposis
152110	NEK10	HP:0002119	Ventriculomegaly
152110	NEK10	HP:0002110	Bronchiectasis
152110	NEK10	HP:0008222	Female infertility
152110	NEK10	HP:0002257	Chronic rhinitis
152110	NEK10	HP:0100750	Atelectasis
152110	NEK10	HP:0032016	Abnormal sputum
152110	NEK10	HP:0011947	Respiratory tract infection
152110	NEK10	HP:0010772	Anomalous pulmonary venous return
152110	NEK10	HP:0030680	Abnormality of cardiovascular system morphology
152110	NEK10	HP:0000750	Delayed speech and language development
152110	NEK10	HP:0040128	Abnormal sweat electrolytes
152110	NEK10	HP:0000924	Abnormality of the skeletal system
152110	NEK10	HP:0011539	Atrial situs ambiguous
152110	NEK10	HP:0011535	Abnormal atrial arrangement
152110	NEK10	HP:0030853	Heterotaxy
152110	NEK10	HP:0030828	Wheezing
152110	NEK10	HP:0003251	Male infertility
152110	NEK10	HP:0011617	Pulmonary situs ambiguus
152110	NEK10	HP:0025576	Abnormal inferior vena cava morphology
152110	NEK10	HP:0000238	Hydrocephalus
152110	NEK10	HP:0012206	Abnormal sperm motility
152110	NEK10	HP:0002878	Respiratory failure
152110	NEK10	HP:0000389	Chronic otitis media
152110	NEK10	HP:0000388	Otitis media
152110	NEK10	HP:0006536	Airway obstruction
152110	NEK10	HP:0001696	Situs inversus totalis
152110	NEK10	HP:0000365	Hearing impairment
152110	NEK10	HP:0001669	Transposition of the great arteries
152110	NEK10	HP:0031456	Ectopic pregnancy
152110	NEK10	HP:0001627	Abnormal heart morphology
152110	NEK10	HP:0005301	Persistent left superior vena cava
152110	NEK10	HP:0000403	Recurrent otitis media
152110	NEK10	HP:0000405	Conductive hearing impairment
152110	NEK10	HP:0001719	Double outlet right ventricle
152110	NEK10	HP:0011109	Chronic sinusitis
152110	NEK10	HP:0011108	Recurrent sinusitis
152110	NEK10	HP:0001746	Asplenia
152110	NEK10	HP:0001748	Polysplenia
152110	NEK10	HP:0001742	Nasal congestion
152110	NEK10	HP:0005425	Recurrent sinopulmonary infections
152110	NEK10	HP:0011274	Recurrent mycobacterial infections
152110	NEK10	HP:0000510	Rod-cone dystrophy
152137	CCDC50	HP:0000006	Autosomal dominant inheritance
152137	CCDC50	HP:0000360	Tinnitus
152137	CCDC50	HP:0000359	Abnormality of the inner ear
152137	CCDC50	HP:0000407	Sensorineural hearing impairment
152137	CCDC50	HP:0001751	Abnormal vestibular function
152816	ODAPH	HP:0000007	Autosomal recessive inheritance
152816	ODAPH	HP:0006297	Enamel hypoplasia
152816	ODAPH	HP:0006285	Enamel hypomineralization
152816	ODAPH	HP:0000705	Amelogenesis imperfecta
152926	PPM1K	HP:0010913	Hyperisoleucinemia
152926	PPM1K	HP:0010911	Hyperleucinemia
152926	PPM1K	HP:0000007	Autosomal recessive inheritance
153201	SLC36A2	HP:0001249	Intellectual disability
153201	SLC36A2	HP:0008672	Calcium oxalate nephrolithiasis
153201	SLC36A2	HP:0000007	Autosomal recessive inheritance
153201	SLC36A2	HP:0000006	Autosomal dominant inheritance
153201	SLC36A2	HP:0002154	Hyperglycinemia
153201	SLC36A2	HP:0008358	Hyperprolinemia
153201	SLC36A2	HP:0003080	Hydroxyprolinuria
153201	SLC36A2	HP:0003108	Hyperglycinuria
153201	SLC36A2	HP:0003137	Prolinuria
153201	SLC36A2	HP:0003260	Hydroxyprolinemia
153201	SLC36A2	HP:0000478	Abnormality of the eye
153241	CEP120	HP:0001156	Brachydactyly
153241	CEP120	HP:0001162	Postaxial hand polydactyly
153241	CEP120	HP:0001161	Hand polydactyly
153241	CEP120	HP:0009921	Duane anomaly
153241	CEP120	HP:0002419	Molar tooth sign on MRI
153241	CEP120	HP:0001274	Agenesis of corpus callosum
153241	CEP120	HP:0001288	Gait disturbance
153241	CEP120	HP:0001250	Seizure
153241	CEP120	HP:0001252	Hypotonia
153241	CEP120	HP:0001251	Ataxia
153241	CEP120	HP:0001249	Intellectual disability
153241	CEP120	HP:0001263	Global developmental delay
153241	CEP120	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
153241	CEP120	HP:0002553	Highly arched eyebrow
153241	CEP120	HP:0003826	Stillbirth
153241	CEP120	HP:0000089	Renal hypoplasia
153241	CEP120	HP:0000083	Renal insufficiency
153241	CEP120	HP:0000090	Nephronophthisis
153241	CEP120	HP:0000062	Ambiguous genitalia
153241	CEP120	HP:0001392	Abnormality of the liver
153241	CEP120	HP:0002692	Hypoplastic facial bones
153241	CEP120	HP:0000028	Cryptorchidism
153241	CEP120	HP:0008872	Feeding difficulties in infancy
153241	CEP120	HP:0008839	Hypoplastic pelvis
153241	CEP120	HP:0000007	Autosomal recessive inheritance
153241	CEP120	HP:0001337	Tremor
153241	CEP120	HP:0001305	Dandy-Walker malformation
153241	CEP120	HP:0002652	Skeletal dysplasia
153241	CEP120	HP:0001320	Cerebellar vermis hypoplasia
153241	CEP120	HP:0002650	Scoliosis
153241	CEP120	HP:0001321	Cerebellar hypoplasia
153241	CEP120	HP:0002644	Abnormal pelvic girdle bone morphology
153241	CEP120	HP:0008905	Rhizomelia
153241	CEP120	HP:0000180	Lobulated tongue
153241	CEP120	HP:0000175	Cleft palate
153241	CEP120	HP:0410030	Cleft lip
153241	CEP120	HP:0002793	Abnormal pattern of respiration
153241	CEP120	HP:0000112	Nephropathy
153241	CEP120	HP:0000107	Renal cyst
153241	CEP120	HP:0002023	Anal atresia
153241	CEP120	HP:0003312	Abnormal form of the vertebral bodies
153241	CEP120	HP:0011800	Midface retrusion
153241	CEP120	HP:0011802	Hamartoma of tongue
153241	CEP120	HP:0002089	Pulmonary hypoplasia
153241	CEP120	HP:0002084	Encephalocele
153241	CEP120	HP:0002093	Respiratory insufficiency
153241	CEP120	HP:0002078	Truncal ataxia
153241	CEP120	HP:0002079	Hypoplasia of the corpus callosum
153241	CEP120	HP:0003375	Narrow greater sciatic notch
153241	CEP120	HP:0003468	Abnormal vertebral morphology
153241	CEP120	HP:0002119	Ventriculomegaly
153241	CEP120	HP:0002126	Polymicrogyria
153241	CEP120	HP:0002104	Apnea
153241	CEP120	HP:0010579	Cone-shaped epiphysis
153241	CEP120	HP:0002269	Abnormality of neuronal migration
153241	CEP120	HP:0003577	Congenital onset
153241	CEP120	HP:0002251	Aganglionic megacolon
153241	CEP120	HP:0011968	Feeding difficulties
153241	CEP120	HP:0003623	Neonatal onset
153241	CEP120	HP:0000639	Nystagmus
153241	CEP120	HP:0000612	Iris coloboma
153241	CEP120	HP:0011340	Incomplete cleft of the upper lip
153241	CEP120	HP:0000695	Natal tooth
153241	CEP120	HP:0011315	Unicoronal synostosis
153241	CEP120	HP:0000657	Oculomotor apraxia
153241	CEP120	HP:0004322	Short stature
153241	CEP120	HP:0030680	Abnormality of cardiovascular system morphology
153241	CEP120	HP:0003038	Fibular hypoplasia
153241	CEP120	HP:0003026	Short long bone
153241	CEP120	HP:0000772	Abnormal rib morphology
153241	CEP120	HP:0000766	Abnormal sternum morphology
153241	CEP120	HP:0000774	Narrow chest
153241	CEP120	HP:0000773	Short ribs
153241	CEP120	HP:0004422	Biparietal narrowing
153241	CEP120	HP:0005736	Short tibia
153241	CEP120	HP:0003177	Squared iliac bones
153241	CEP120	HP:0003180	Flat acetabular roof
153241	CEP120	HP:0004482	Relative macrocephaly
153241	CEP120	HP:0000888	Horizontal ribs
153241	CEP120	HP:0000889	Abnormal clavicle morphology
153241	CEP120	HP:0000864	Abnormality of the hypothalamus-pituitary axis
153241	CEP120	HP:0010297	Bifid tongue
153241	CEP120	HP:0045075	Sparse eyebrow
153241	CEP120	HP:0100259	Postaxial polydactyly
153241	CEP120	HP:0100258	Preaxial polydactyly
153241	CEP120	HP:0010306	Short thorax
153241	CEP120	HP:0000944	Abnormal metaphysis morphology
153241	CEP120	HP:0007703	Abnormality of retinal pigmentation
153241	CEP120	HP:0000280	Coarse facial features
153241	CEP120	HP:0001591	Bell-shaped thorax
153241	CEP120	HP:0000276	Long face
153241	CEP120	HP:0000238	Hydrocephalus
153241	CEP120	HP:0002876	Episodic tachypnea
153241	CEP120	HP:0001539	Omphalocele
153241	CEP120	HP:0000202	Orofacial cleft
153241	CEP120	HP:0001696	Situs inversus totalis
153241	CEP120	HP:0000369	Low-set ears
153241	CEP120	HP:0000368	Low-set, posteriorly rotated ears
153241	CEP120	HP:0002983	Micromelia
153241	CEP120	HP:0001651	Dextrocardia
153241	CEP120	HP:0000316	Hypertelorism
153241	CEP120	HP:0001643	Patent ductus arteriosus
153241	CEP120	HP:0000308	Microretrognathia
153241	CEP120	HP:0000400	Macrotia
153241	CEP120	HP:0000486	Strabismus
153241	CEP120	HP:0000480	Retinal coloboma
153241	CEP120	HP:0000463	Anteverted nares
153241	CEP120	HP:0001770	Toe syndactyly
153241	CEP120	HP:0001773	Short foot
153241	CEP120	HP:0000448	Prominent nose
153241	CEP120	HP:0000426	Prominent nasal bridge
153241	CEP120	HP:0006703	Aplasia/Hypoplasia of the lungs
153241	CEP120	HP:0001829	Foot polydactyly
153241	CEP120	HP:0000508	Ptosis
153241	CEP120	HP:0001830	Postaxial foot polydactyly
153241	CEP120	HP:0000556	Retinal dystrophy
153241	CEP120	HP:0000572	Visual loss
153241	CEP120	HP:0000568	Microphthalmia
153562	MARVELD2	HP:0000007	Autosomal recessive inheritance
153562	MARVELD2	HP:0003577	Congenital onset
153562	MARVELD2	HP:0000399	Prelingual sensorineural hearing impairment
153642	ARSK	HP:0100832	Vitreous floaters
153642	ARSK	HP:0001385	Hip dysplasia
153642	ARSK	HP:0008833	Irregular acetabular roof
153642	ARSK	HP:0000007	Autosomal recessive inheritance
153642	ARSK	HP:0002650	Scoliosis
153642	ARSK	HP:0003307	Hyperlordosis
153642	ARSK	HP:0008301	Dermatan sulfate excretion in urine
153642	ARSK	HP:0003521	Disproportionate short-trunk short stature
153642	ARSK	HP:0010807	Open bite
153642	ARSK	HP:0000699	Diastema
153642	ARSK	HP:0000687	Widely spaced teeth
153642	ARSK	HP:0011463	Childhood onset
153642	ARSK	HP:0000787	Nephrolithiasis
153642	ARSK	HP:0000916	Broad clavicles
153642	ARSK	HP:0000926	Platyspondyly
153642	ARSK	HP:0000885	Broad ribs
153642	ARSK	HP:0004568	Beaking of vertebral bodies
153642	ARSK	HP:0000280	Coarse facial features
153642	ARSK	HP:0005121	Posterior scalloping of vertebral bodies
153642	ARSK	HP:0002857	Genu valgum
153642	ARSK	HP:0000343	Long philtrum
153642	ARSK	HP:0001650	Aortic valve stenosis
153642	ARSK	HP:0012307	Spatulate ribs
153642	ARSK	HP:0001659	Aortic regurgitation
153642	ARSK	HP:0001712	Left ventricular hypertrophy
153642	ARSK	HP:0031568	Thickened aortic valve cusp
153642	ARSK	HP:0000431	Wide nasal bridge
154197	PNLDC1	HP:0008734	Decreased testicular size
154197	PNLDC1	HP:0031038	Spermatogenesis maturation arrest
154197	PNLDC1	HP:0008669	Abnormal spermatogenesis
154197	PNLDC1	HP:0000027	Azoospermia
154197	PNLDC1	HP:0000007	Autosomal recessive inheritance
154197	PNLDC1	HP:0000118	Phenotypic abnormality
154197	PNLDC1	HP:0011961	Non-obstructive azoospermia
154197	PNLDC1	HP:0011962	Obstructive azoospermia
154197	PNLDC1	HP:0011462	Young adult onset
154197	PNLDC1	HP:0000837	Increased circulating gonadotropin level
154197	PNLDC1	HP:0003251	Male infertility
154288	KHDC3L	HP:0000007	Autosomal recessive inheritance
154288	KHDC3L	HP:0032192	Hydatidiform mole
154881	KCTD7	HP:0007272	Progressive psychomotor deterioration
154881	KCTD7	HP:0007221	Progressive truncal ataxia
154881	KCTD7	HP:0001272	Cerebellar atrophy
154881	KCTD7	HP:0001249	Intellectual disability
154881	KCTD7	HP:0001260	Dysarthria
154881	KCTD7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
154881	KCTD7	HP:0007334	Bilateral tonic-clonic seizure with focal onset
154881	KCTD7	HP:0001327	Photosensitive myoclonic seizure
154881	KCTD7	HP:0001344	Absent speech
154881	KCTD7	HP:0000007	Autosomal recessive inheritance
154881	KCTD7	HP:0001336	Myoclonus
154881	KCTD7	HP:0002069	Bilateral tonic-clonic seizure
154881	KCTD7	HP:0002078	Truncal ataxia
154881	KCTD7	HP:0002079	Hypoplasia of the corpus callosum
154881	KCTD7	HP:0002073	Progressive cerebellar ataxia
154881	KCTD7	HP:0002059	Cerebral atrophy
154881	KCTD7	HP:0002123	Generalized myoclonic seizure
154881	KCTD7	HP:0003593	Infantile onset
154881	KCTD7	HP:0002376	Developmental regression
154881	KCTD7	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
154881	KCTD7	HP:0003676	Progressive
154881	KCTD7	HP:0000648	Optic atrophy
154881	KCTD7	HP:0000726	Dementia
154881	KCTD7	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
154881	KCTD7	HP:0045084	Limb myoclonus
154881	KCTD7	HP:0000252	Microcephaly
154881	KCTD7	HP:0032667	Myoclonic status epilepticus
154881	KCTD7	HP:0032794	Myoclonic seizure
154881	KCTD7	HP:0011185	EEG with focal epileptiform discharges
154881	KCTD7	HP:0011188	Focal EEG discharges with secondary generalization
154881	KCTD7	HP:0011166	Focal myoclonic seizure
154881	KCTD7	HP:0012462	Chin myoclonus
154881	KCTD7	HP:0000504	Abnormality of vision
154881	KCTD7	HP:0000572	Visual loss
155368	METTL27	HP:0001181	Adducted thumb
155368	METTL27	HP:0001136	Retinal arteriolar tortuosity
155368	METTL27	HP:0010880	Increased nuchal translucency
155368	METTL27	HP:0001297	Stroke
155368	METTL27	HP:0100817	Renovascular hypertension
155368	METTL27	HP:0001288	Gait disturbance
155368	METTL27	HP:0001252	Hypotonia
155368	METTL27	HP:0001251	Ataxia
155368	METTL27	HP:0001249	Intellectual disability
155368	METTL27	HP:0001260	Dysarthria
155368	METTL27	HP:0001257	Spasticity
155368	METTL27	HP:0001231	Abnormal fingernail morphology
155368	METTL27	HP:0002575	Tracheoesophageal fistula
155368	METTL27	HP:0008736	Hypoplasia of penis
155368	METTL27	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
155368	METTL27	HP:0008661	Urethral stenosis
155368	METTL27	HP:0000089	Renal hypoplasia
155368	METTL27	HP:0000083	Renal insufficiency
155368	METTL27	HP:0000093	Proteinuria
155368	METTL27	HP:0000076	Vesicoureteral reflux
155368	METTL27	HP:0000075	Renal duplication
155368	METTL27	HP:0000044	Hypogonadotropic hypogonadism
155368	METTL27	HP:0001388	Joint laxity
155368	METTL27	HP:0001387	Joint stiffness
155368	METTL27	HP:0000023	Inguinal hernia
155368	METTL27	HP:0000015	Bladder diverticulum
155368	METTL27	HP:0000014	Abnormality of the bladder
155368	METTL27	HP:0001347	Hyperreflexia
155368	METTL27	HP:0001361	Nystagmus-induced head nodding
155368	METTL27	HP:0000025	Functional abnormality of male internal genitalia
155368	METTL27	HP:0000028	Cryptorchidism
155368	METTL27	HP:0007495	Prematurely aged appearance
155368	METTL27	HP:0007477	Abnormal dermatoglyphics
155368	METTL27	HP:0000010	Recurrent urinary tract infections
155368	METTL27	HP:0001337	Tremor
155368	METTL27	HP:0001310	Dysmetria
155368	METTL27	HP:0002637	Cerebral ischemia
155368	METTL27	HP:0002650	Scoliosis
155368	METTL27	HP:0002644	Abnormal pelvic girdle bone morphology
155368	METTL27	HP:0002623	Overriding aorta
155368	METTL27	HP:0000179	Thick lower lip vermilion
155368	METTL27	HP:0000158	Macroglossia
155368	METTL27	HP:0000154	Wide mouth
155368	METTL27	HP:0000147	Polycystic ovaries
155368	METTL27	HP:0000121	Nephrocalcinosis
155368	METTL27	HP:0000125	Pelvic kidney
155368	METTL27	HP:0002750	Delayed skeletal maturation
155368	METTL27	HP:0002024	Malabsorption
155368	METTL27	HP:0002020	Gastroesophageal reflux
155368	METTL27	HP:0002019	Constipation
155368	METTL27	HP:0002017	Nausea and vomiting
155368	METTL27	HP:0002035	Rectal prolapse
155368	METTL27	HP:0002027	Abdominal pain
155368	METTL27	HP:0003312	Abnormal form of the vertebral bodies
155368	METTL27	HP:0003307	Hyperlordosis
155368	METTL27	HP:0005978	Type II diabetes mellitus
155368	METTL27	HP:0100539	Periorbital edema
155368	METTL27	HP:0100545	Arterial stenosis
155368	METTL27	HP:0002071	Abnormality of extrapyramidal motor function
155368	METTL27	HP:0002141	Gait imbalance
155368	METTL27	HP:0002150	Hypercalciuria
155368	METTL27	HP:0002120	Cerebral cortical atrophy
155368	METTL27	HP:0003422	Vertebral segmentation defect
155368	METTL27	HP:0002183	Phonophobia
155368	METTL27	HP:0002167	Abnormality of speech or vocalization
155368	METTL27	HP:0010526	Dysgraphia
155368	METTL27	HP:0002253	Colonic diverticula
155368	METTL27	HP:0002205	Recurrent respiratory infections
155368	METTL27	HP:0100785	Insomnia
155368	METTL27	HP:0010662	Abnormality of the diencephalon
155368	METTL27	HP:0010669	Hypoplasia of the zygomatic bone
155368	METTL27	HP:0007018	Attention deficit hyperactivity disorder
155368	METTL27	HP:0001052	Nevus flammeus
155368	METTL27	HP:0002376	Developmental regression
155368	METTL27	HP:0200021	Down-sloping shoulders
155368	METTL27	HP:0100659	Abnormal cerebral vascular morphology
155368	METTL27	HP:0010807	Open bite
155368	METTL27	HP:0100613	Death in early adulthood
155368	METTL27	HP:0001081	Cholelithiasis
155368	METTL27	HP:0008499	High hypermetropia
155368	METTL27	HP:0010780	Hyperacusis
155368	METTL27	HP:0002308	Chiari malformation
155368	METTL27	HP:0004969	Peripheral pulmonary artery stenosis
155368	METTL27	HP:0004209	Clinodactyly of the 5th finger
155368	METTL27	HP:0004295	Abnormal gastric mucosa morphology
155368	METTL27	HP:0005562	Multiple renal cysts
155368	METTL27	HP:0001969	Abnormal tubulointerstitial morphology
155368	METTL27	HP:0000635	Blue irides
155368	METTL27	HP:0000632	Lacrimation abnormality
155368	METTL27	HP:0000627	Posterior embryotoxon
155368	METTL27	HP:0000682	Abnormal dental enamel morphology
155368	METTL27	HP:0000691	Microdontia
155368	METTL27	HP:0000689	Dental malocclusion
155368	METTL27	HP:0000670	Carious teeth
155368	METTL27	HP:0012639	Abnormal nervous system morphology
155368	METTL27	HP:0000668	Hypodontia
155368	METTL27	HP:0004322	Short stature
155368	METTL27	HP:0004306	Abnormal endocardium morphology
155368	METTL27	HP:0004305	Involuntary movements
155368	METTL27	HP:0003072	Hypercalcemia
155368	METTL27	HP:0004381	Supravalvular aortic stenosis
155368	METTL27	HP:0004398	Peptic ulcer
155368	METTL27	HP:0005692	Joint hyperflexibility
155368	METTL27	HP:0003028	Abnormality of the ankle
155368	METTL27	HP:0100025	Overfriendliness
155368	METTL27	HP:0000767	Pectus excavatum
155368	METTL27	HP:0000739	Anxiety
155368	METTL27	HP:0000716	Depression
155368	METTL27	HP:0000717	Autism
155368	METTL27	HP:0000722	Compulsive behaviors
155368	METTL27	HP:0000787	Nephrolithiasis
155368	METTL27	HP:0003119	Abnormal circulating lipid concentration
155368	METTL27	HP:0004428	Elfin facies
155368	METTL27	HP:0003198	Myopathy
155368	METTL27	HP:0003196	Short nose
155368	METTL27	HP:0000826	Precocious puberty
155368	METTL27	HP:0000822	Hypertension
155368	METTL27	HP:0000821	Hypothyroidism
155368	METTL27	HP:0003236	Elevated circulating creatine kinase concentration
155368	METTL27	HP:0003298	Spina bifida occulta
155368	METTL27	HP:0000960	Sacral dimple
155368	METTL27	HP:0000939	Osteoporosis
155368	METTL27	HP:0000938	Osteopenia
155368	METTL27	HP:0100240	Synostosis of joints
155368	METTL27	HP:0008053	Aplasia/Hypoplasia of the iris
155368	METTL27	HP:0007720	Flat cornea
155368	METTL27	HP:0000286	Epicanthus
155368	METTL27	HP:0000280	Coarse facial features
155368	METTL27	HP:0000275	Narrow face
155368	METTL27	HP:0005113	Aortic arch aneurysm
155368	METTL27	HP:0002829	Arthralgia
155368	METTL27	HP:0002808	Kyphosis
155368	METTL27	HP:0000252	Microcephaly
155368	METTL27	HP:0001582	Redundant skin
155368	METTL27	HP:0000212	Gingival overgrowth
155368	METTL27	HP:0000232	Everted lower lip vermilion
155368	METTL27	HP:0001531	Failure to thrive in infancy
155368	METTL27	HP:0002857	Genu valgum
155368	METTL27	HP:0001537	Umbilical hernia
155368	METTL27	HP:0001513	Obesity
155368	METTL27	HP:0000389	Chronic otitis media
155368	METTL27	HP:0001609	Hoarse voice
155368	METTL27	HP:0001608	Abnormality of the voice
155368	METTL27	HP:0001618	Dysphonia
155368	METTL27	HP:0006482	Abnormality of dental morphology
155368	METTL27	HP:0000368	Low-set, posteriorly rotated ears
155368	METTL27	HP:0001671	Abnormal cardiac septum morphology
155368	METTL27	HP:0000343	Long philtrum
155368	METTL27	HP:0011001	Increased bone mineral density
155368	METTL27	HP:0000337	Broad forehead
155368	METTL27	HP:0002999	Patellar dislocation
155368	METTL27	HP:0000348	High forehead
155368	METTL27	HP:0000347	Micrognathia
155368	METTL27	HP:0001647	Bicuspid aortic valve
155368	METTL27	HP:0001643	Patent ductus arteriosus
155368	METTL27	HP:0001642	Pulmonic stenosis
155368	METTL27	HP:0001645	Sudden cardiac death
155368	METTL27	HP:0002974	Radioulnar synostosis
155368	METTL27	HP:0001658	Myocardial infarction
155368	METTL27	HP:0001653	Mitral regurgitation
155368	METTL27	HP:0001629	Ventricular septal defect
155368	METTL27	HP:0001626	Abnormality of the cardiovascular system
155368	METTL27	HP:0001640	Cardiomegaly
155368	METTL27	HP:0001639	Hypertrophic cardiomyopathy
155368	METTL27	HP:0001636	Tetralogy of Fallot
155368	METTL27	HP:0001635	Congestive heart failure
155368	METTL27	HP:0000307	Pointed chin
155368	METTL27	HP:0001631	Atrial septal defect
155368	METTL27	HP:0001634	Mitral valve prolapse
155368	METTL27	HP:0007957	Corneal opacity
155368	METTL27	HP:0005344	Abnormal carotid artery morphology
155368	METTL27	HP:0000407	Sensorineural hearing impairment
155368	METTL27	HP:0000400	Macrotia
155368	METTL27	HP:0000486	Strabismus
155368	METTL27	HP:0000485	Megalocornea
155368	METTL27	HP:0000464	Abnormality of the neck
155368	METTL27	HP:0012433	Abnormal social behavior
155368	METTL27	HP:0001763	Pes planus
155368	METTL27	HP:0000411	Protruding ear
155368	METTL27	HP:0000431	Wide nasal bridge
155368	METTL27	HP:0000518	Cataract
155368	METTL27	HP:0001822	Hallux valgus
155368	METTL27	HP:0000505	Visual impairment
155368	METTL27	HP:0000501	Glaucoma
155368	METTL27	HP:0001800	Hypoplastic toenails
155368	METTL27	HP:0000581	Blepharophimosis
155368	METTL27	HP:0000545	Myopia
155382	VPS37D	HP:0001181	Adducted thumb
155382	VPS37D	HP:0001136	Retinal arteriolar tortuosity
155382	VPS37D	HP:0010880	Increased nuchal translucency
155382	VPS37D	HP:0001297	Stroke
155382	VPS37D	HP:0100817	Renovascular hypertension
155382	VPS37D	HP:0001288	Gait disturbance
155382	VPS37D	HP:0001252	Hypotonia
155382	VPS37D	HP:0001251	Ataxia
155382	VPS37D	HP:0001249	Intellectual disability
155382	VPS37D	HP:0001260	Dysarthria
155382	VPS37D	HP:0001257	Spasticity
155382	VPS37D	HP:0001231	Abnormal fingernail morphology
155382	VPS37D	HP:0002575	Tracheoesophageal fistula
155382	VPS37D	HP:0008736	Hypoplasia of penis
155382	VPS37D	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
155382	VPS37D	HP:0008661	Urethral stenosis
155382	VPS37D	HP:0000089	Renal hypoplasia
155382	VPS37D	HP:0000083	Renal insufficiency
155382	VPS37D	HP:0000093	Proteinuria
155382	VPS37D	HP:0000076	Vesicoureteral reflux
155382	VPS37D	HP:0000075	Renal duplication
155382	VPS37D	HP:0000044	Hypogonadotropic hypogonadism
155382	VPS37D	HP:0001388	Joint laxity
155382	VPS37D	HP:0001387	Joint stiffness
155382	VPS37D	HP:0000023	Inguinal hernia
155382	VPS37D	HP:0000015	Bladder diverticulum
155382	VPS37D	HP:0000014	Abnormality of the bladder
155382	VPS37D	HP:0001347	Hyperreflexia
155382	VPS37D	HP:0001361	Nystagmus-induced head nodding
155382	VPS37D	HP:0000025	Functional abnormality of male internal genitalia
155382	VPS37D	HP:0000028	Cryptorchidism
155382	VPS37D	HP:0007495	Prematurely aged appearance
155382	VPS37D	HP:0007477	Abnormal dermatoglyphics
155382	VPS37D	HP:0000010	Recurrent urinary tract infections
155382	VPS37D	HP:0001337	Tremor
155382	VPS37D	HP:0001310	Dysmetria
155382	VPS37D	HP:0002637	Cerebral ischemia
155382	VPS37D	HP:0002650	Scoliosis
155382	VPS37D	HP:0002644	Abnormal pelvic girdle bone morphology
155382	VPS37D	HP:0002623	Overriding aorta
155382	VPS37D	HP:0000179	Thick lower lip vermilion
155382	VPS37D	HP:0000158	Macroglossia
155382	VPS37D	HP:0000154	Wide mouth
155382	VPS37D	HP:0000147	Polycystic ovaries
155382	VPS37D	HP:0000121	Nephrocalcinosis
155382	VPS37D	HP:0000125	Pelvic kidney
155382	VPS37D	HP:0002750	Delayed skeletal maturation
155382	VPS37D	HP:0002024	Malabsorption
155382	VPS37D	HP:0002020	Gastroesophageal reflux
155382	VPS37D	HP:0002019	Constipation
155382	VPS37D	HP:0002017	Nausea and vomiting
155382	VPS37D	HP:0002035	Rectal prolapse
155382	VPS37D	HP:0002027	Abdominal pain
155382	VPS37D	HP:0003312	Abnormal form of the vertebral bodies
155382	VPS37D	HP:0003307	Hyperlordosis
155382	VPS37D	HP:0005978	Type II diabetes mellitus
155382	VPS37D	HP:0100539	Periorbital edema
155382	VPS37D	HP:0100545	Arterial stenosis
155382	VPS37D	HP:0002071	Abnormality of extrapyramidal motor function
155382	VPS37D	HP:0002141	Gait imbalance
155382	VPS37D	HP:0002150	Hypercalciuria
155382	VPS37D	HP:0002120	Cerebral cortical atrophy
155382	VPS37D	HP:0003422	Vertebral segmentation defect
155382	VPS37D	HP:0002183	Phonophobia
155382	VPS37D	HP:0002167	Abnormality of speech or vocalization
155382	VPS37D	HP:0010526	Dysgraphia
155382	VPS37D	HP:0002253	Colonic diverticula
155382	VPS37D	HP:0002205	Recurrent respiratory infections
155382	VPS37D	HP:0100785	Insomnia
155382	VPS37D	HP:0010662	Abnormality of the diencephalon
155382	VPS37D	HP:0010669	Hypoplasia of the zygomatic bone
155382	VPS37D	HP:0007018	Attention deficit hyperactivity disorder
155382	VPS37D	HP:0001052	Nevus flammeus
155382	VPS37D	HP:0002376	Developmental regression
155382	VPS37D	HP:0200021	Down-sloping shoulders
155382	VPS37D	HP:0100659	Abnormal cerebral vascular morphology
155382	VPS37D	HP:0010807	Open bite
155382	VPS37D	HP:0100613	Death in early adulthood
155382	VPS37D	HP:0001081	Cholelithiasis
155382	VPS37D	HP:0008499	High hypermetropia
155382	VPS37D	HP:0010780	Hyperacusis
155382	VPS37D	HP:0002308	Chiari malformation
155382	VPS37D	HP:0004969	Peripheral pulmonary artery stenosis
155382	VPS37D	HP:0004209	Clinodactyly of the 5th finger
155382	VPS37D	HP:0004295	Abnormal gastric mucosa morphology
155382	VPS37D	HP:0005562	Multiple renal cysts
155382	VPS37D	HP:0001969	Abnormal tubulointerstitial morphology
155382	VPS37D	HP:0000635	Blue irides
155382	VPS37D	HP:0000632	Lacrimation abnormality
155382	VPS37D	HP:0000627	Posterior embryotoxon
155382	VPS37D	HP:0000682	Abnormal dental enamel morphology
155382	VPS37D	HP:0000691	Microdontia
155382	VPS37D	HP:0000689	Dental malocclusion
155382	VPS37D	HP:0000670	Carious teeth
155382	VPS37D	HP:0012639	Abnormal nervous system morphology
155382	VPS37D	HP:0000668	Hypodontia
155382	VPS37D	HP:0004322	Short stature
155382	VPS37D	HP:0004306	Abnormal endocardium morphology
155382	VPS37D	HP:0004305	Involuntary movements
155382	VPS37D	HP:0003072	Hypercalcemia
155382	VPS37D	HP:0004381	Supravalvular aortic stenosis
155382	VPS37D	HP:0004398	Peptic ulcer
155382	VPS37D	HP:0005692	Joint hyperflexibility
155382	VPS37D	HP:0003028	Abnormality of the ankle
155382	VPS37D	HP:0100025	Overfriendliness
155382	VPS37D	HP:0000767	Pectus excavatum
155382	VPS37D	HP:0000739	Anxiety
155382	VPS37D	HP:0000716	Depression
155382	VPS37D	HP:0000717	Autism
155382	VPS37D	HP:0000722	Compulsive behaviors
155382	VPS37D	HP:0000787	Nephrolithiasis
155382	VPS37D	HP:0003119	Abnormal circulating lipid concentration
155382	VPS37D	HP:0004428	Elfin facies
155382	VPS37D	HP:0003198	Myopathy
155382	VPS37D	HP:0003196	Short nose
155382	VPS37D	HP:0000826	Precocious puberty
155382	VPS37D	HP:0000822	Hypertension
155382	VPS37D	HP:0000821	Hypothyroidism
155382	VPS37D	HP:0003236	Elevated circulating creatine kinase concentration
155382	VPS37D	HP:0003298	Spina bifida occulta
155382	VPS37D	HP:0000960	Sacral dimple
155382	VPS37D	HP:0000939	Osteoporosis
155382	VPS37D	HP:0000938	Osteopenia
155382	VPS37D	HP:0100240	Synostosis of joints
155382	VPS37D	HP:0008053	Aplasia/Hypoplasia of the iris
155382	VPS37D	HP:0007720	Flat cornea
155382	VPS37D	HP:0000286	Epicanthus
155382	VPS37D	HP:0000280	Coarse facial features
155382	VPS37D	HP:0000275	Narrow face
155382	VPS37D	HP:0005113	Aortic arch aneurysm
155382	VPS37D	HP:0002829	Arthralgia
155382	VPS37D	HP:0002808	Kyphosis
155382	VPS37D	HP:0000252	Microcephaly
155382	VPS37D	HP:0001582	Redundant skin
155382	VPS37D	HP:0000212	Gingival overgrowth
155382	VPS37D	HP:0000232	Everted lower lip vermilion
155382	VPS37D	HP:0001531	Failure to thrive in infancy
155382	VPS37D	HP:0002857	Genu valgum
155382	VPS37D	HP:0001537	Umbilical hernia
155382	VPS37D	HP:0001513	Obesity
155382	VPS37D	HP:0000389	Chronic otitis media
155382	VPS37D	HP:0001609	Hoarse voice
155382	VPS37D	HP:0001608	Abnormality of the voice
155382	VPS37D	HP:0001618	Dysphonia
155382	VPS37D	HP:0006482	Abnormality of dental morphology
155382	VPS37D	HP:0000368	Low-set, posteriorly rotated ears
155382	VPS37D	HP:0001671	Abnormal cardiac septum morphology
155382	VPS37D	HP:0000343	Long philtrum
155382	VPS37D	HP:0011001	Increased bone mineral density
155382	VPS37D	HP:0000337	Broad forehead
155382	VPS37D	HP:0002999	Patellar dislocation
155382	VPS37D	HP:0000348	High forehead
155382	VPS37D	HP:0000347	Micrognathia
155382	VPS37D	HP:0001647	Bicuspid aortic valve
155382	VPS37D	HP:0001643	Patent ductus arteriosus
155382	VPS37D	HP:0001642	Pulmonic stenosis
155382	VPS37D	HP:0001645	Sudden cardiac death
155382	VPS37D	HP:0002974	Radioulnar synostosis
155382	VPS37D	HP:0001658	Myocardial infarction
155382	VPS37D	HP:0001653	Mitral regurgitation
155382	VPS37D	HP:0001629	Ventricular septal defect
155382	VPS37D	HP:0001626	Abnormality of the cardiovascular system
155382	VPS37D	HP:0001640	Cardiomegaly
155382	VPS37D	HP:0001639	Hypertrophic cardiomyopathy
155382	VPS37D	HP:0001636	Tetralogy of Fallot
155382	VPS37D	HP:0001635	Congestive heart failure
155382	VPS37D	HP:0000307	Pointed chin
155382	VPS37D	HP:0001631	Atrial septal defect
155382	VPS37D	HP:0001634	Mitral valve prolapse
155382	VPS37D	HP:0007957	Corneal opacity
155382	VPS37D	HP:0005344	Abnormal carotid artery morphology
155382	VPS37D	HP:0000407	Sensorineural hearing impairment
155382	VPS37D	HP:0000400	Macrotia
155382	VPS37D	HP:0000486	Strabismus
155382	VPS37D	HP:0000485	Megalocornea
155382	VPS37D	HP:0000464	Abnormality of the neck
155382	VPS37D	HP:0012433	Abnormal social behavior
155382	VPS37D	HP:0001763	Pes planus
155382	VPS37D	HP:0000411	Protruding ear
155382	VPS37D	HP:0000431	Wide nasal bridge
155382	VPS37D	HP:0000518	Cataract
155382	VPS37D	HP:0001822	Hallux valgus
155382	VPS37D	HP:0000505	Visual impairment
155382	VPS37D	HP:0000501	Glaucoma
155382	VPS37D	HP:0001800	Hypoplastic toenails
155382	VPS37D	HP:0000581	Blepharophimosis
155382	VPS37D	HP:0000545	Myopia
157570	ESCO2	HP:0001180	Hand oligodactyly
157570	ESCO2	HP:0001156	Brachydactyly
157570	ESCO2	HP:0001167	Abnormal finger morphology
157570	ESCO2	HP:0001159	Syndactyly
157570	ESCO2	HP:0009943	Complete duplication of thumb phalanx
157570	ESCO2	HP:0009933	Narrow naris
157570	ESCO2	HP:0001191	Abnormal carpal morphology
157570	ESCO2	HP:0008572	External ear malformation
157570	ESCO2	HP:0009891	Underdeveloped supraorbital ridges
157570	ESCO2	HP:0001249	Intellectual disability
157570	ESCO2	HP:0001263	Global developmental delay
157570	ESCO2	HP:0001239	Wrist flexion contracture
157570	ESCO2	HP:0006101	Finger syndactyly
157570	ESCO2	HP:0008683	Enlarged labia minora
157570	ESCO2	HP:0007330	Frontal encephalocele
157570	ESCO2	HP:0008665	Clitoral hypertrophy
157570	ESCO2	HP:0002553	Highly arched eyebrow
157570	ESCO2	HP:0003826	Stillbirth
157570	ESCO2	HP:0000085	Horseshoe kidney
157570	ESCO2	HP:0001377	Limited elbow extension
157570	ESCO2	HP:0000040	Long penis
157570	ESCO2	HP:0000047	Hypospadias
157570	ESCO2	HP:0001363	Craniosynostosis
157570	ESCO2	HP:0000028	Cryptorchidism
157570	ESCO2	HP:0008897	Postnatal growth retardation
157570	ESCO2	HP:0008846	Severe intrauterine growth retardation
157570	ESCO2	HP:0007486	Cavernous hemangioma of the face
157570	ESCO2	HP:0007452	Midface capillary hemangioma
157570	ESCO2	HP:0003995	Abnormality of the radial head
157570	ESCO2	HP:0000007	Autosomal recessive inheritance
157570	ESCO2	HP:0001305	Dandy-Walker malformation
157570	ESCO2	HP:0002650	Scoliosis
157570	ESCO2	HP:0003982	Aplasia of the ulna
157570	ESCO2	HP:0003974	Absent radius
157570	ESCO2	HP:0000175	Cleft palate
157570	ESCO2	HP:0005011	Mesomelic arm shortening
157570	ESCO2	HP:0007598	Bilateral single transverse palmar creases
157570	ESCO2	HP:0000113	Polycystic kidney dysplasia
157570	ESCO2	HP:0001438	Abnormal abdomen morphology
157570	ESCO2	HP:0009466	Radial deviation of finger
157570	ESCO2	HP:0005916	Abnormal metacarpal morphology
157570	ESCO2	HP:0003468	Abnormal vertebral morphology
157570	ESCO2	HP:0009623	Proximal placement of thumb
157570	ESCO2	HP:0009601	Aplasia/Hypoplasia of the thumb
157570	ESCO2	HP:0003577	Congenital onset
157570	ESCO2	HP:0430028	Hyperplasia of the maxilla
157570	ESCO2	HP:0003510	Severe short stature
157570	ESCO2	HP:0009829	Phocomelia
157570	ESCO2	HP:0009811	Abnormality of the elbow
157570	ESCO2	HP:0001080	Biliary tract abnormality
157570	ESCO2	HP:0009777	Absent thumb
157570	ESCO2	HP:0009778	Short thumb
157570	ESCO2	HP:0003616	Premature separation of centromeric heterochromatin
157570	ESCO2	HP:0004209	Clinodactyly of the 5th finger
157570	ESCO2	HP:0006824	Cranial nerve paralysis
157570	ESCO2	HP:0000639	Nystagmus
157570	ESCO2	HP:0000625	Eyelid coloboma
157570	ESCO2	HP:0004322	Short stature
157570	ESCO2	HP:0030680	Abnormality of cardiovascular system morphology
157570	ESCO2	HP:0003022	Hypoplasia of the ulna
157570	ESCO2	HP:0003019	Abnormality of the wrist
157570	ESCO2	HP:0000772	Abnormal rib morphology
157570	ESCO2	HP:0005792	Short humerus
157570	ESCO2	HP:0030721	Tetraphocomelia
157570	ESCO2	HP:0000813	Bicornuate uterus
157570	ESCO2	HP:0000824	Decreased response to growth hormone stimulation test
157570	ESCO2	HP:0005876	Progressive flexion contractures
157570	ESCO2	HP:0000957	Cafe-au-lait spot
157570	ESCO2	HP:0008070	Sparse hair
157570	ESCO2	HP:0000272	Malar flattening
157570	ESCO2	HP:0006466	Ankle flexion contracture
157570	ESCO2	HP:0006443	Patellar aplasia
157570	ESCO2	HP:0007759	Opacification of the corneal stroma
157570	ESCO2	HP:0002817	Abnormality of the upper limb
157570	ESCO2	HP:0030084	Clinodactyly
157570	ESCO2	HP:0006380	Knee flexion contracture
157570	ESCO2	HP:0005048	Synostosis of carpal bones
157570	ESCO2	HP:0000238	Hydrocephalus
157570	ESCO2	HP:0000252	Microcephaly
157570	ESCO2	HP:0000248	Brachycephaly
157570	ESCO2	HP:0000218	High palate
157570	ESCO2	HP:0001545	Anteriorly placed anus
157570	ESCO2	HP:0001561	Polyhydramnios
157570	ESCO2	HP:0000202	Orofacial cleft
157570	ESCO2	HP:0000204	Cleft upper lip
157570	ESCO2	HP:0001511	Intrauterine growth retardation
157570	ESCO2	HP:0000387	Absent earlobe
157570	ESCO2	HP:0000377	Abnormal pinna morphology
157570	ESCO2	HP:0006487	Bowing of the long bones
157570	ESCO2	HP:0000358	Posteriorly rotated ears
157570	ESCO2	HP:0000369	Low-set ears
157570	ESCO2	HP:0000347	Micrognathia
157570	ESCO2	HP:0000316	Hypertelorism
157570	ESCO2	HP:0001643	Patent ductus arteriosus
157570	ESCO2	HP:0002974	Radioulnar synostosis
157570	ESCO2	HP:0002987	Elbow flexion contracture
157570	ESCO2	HP:0002984	Hypoplasia of the radius
157570	ESCO2	HP:0001629	Ventricular septal defect
157570	ESCO2	HP:0001622	Premature birth
157570	ESCO2	HP:0001631	Atrial septal defect
157570	ESCO2	HP:0007957	Corneal opacity
157570	ESCO2	HP:0000476	Cystic hygroma
157570	ESCO2	HP:0000494	Downslanted palpebral fissures
157570	ESCO2	HP:0000470	Short neck
157570	ESCO2	HP:0001770	Toe syndactyly
157570	ESCO2	HP:0001772	Talipes equinovalgus
157570	ESCO2	HP:0001765	Hammertoe
157570	ESCO2	HP:0001780	Abnormal toe morphology
157570	ESCO2	HP:0000445	Wide nose
157570	ESCO2	HP:0001747	Accessory spleen
157570	ESCO2	HP:0000431	Wide nasal bridge
157570	ESCO2	HP:0000430	Underdeveloped nasal alae
157570	ESCO2	HP:0000518	Cataract
157570	ESCO2	HP:0001852	Sandal gap
157570	ESCO2	HP:0000520	Proptosis
157570	ESCO2	HP:0000508	Ptosis
157570	ESCO2	HP:0000501	Glaucoma
157570	ESCO2	HP:0000592	Blue sclerae
157570	ESCO2	HP:0000586	Shallow orbits
157570	ESCO2	HP:0000589	Coloboma
157570	ESCO2	HP:0000568	Microphthalmia
157570	ESCO2	HP:0000534	Abnormal eyebrow morphology
157570	ESCO2	HP:0001873	Thrombocytopenia
157657	CFAP418	HP:0025147	Beaten bronze macular sheen
157657	CFAP418	HP:0001162	Postaxial hand polydactyly
157657	CFAP418	HP:0001133	Constriction of peripheral visual field
157657	CFAP418	HP:0001105	Retinal atrophy
157657	CFAP418	HP:0001249	Intellectual disability
157657	CFAP418	HP:0006101	Finger syndactyly
157657	CFAP418	HP:0007401	Macular atrophy
157657	CFAP418	HP:0008736	Hypoplasia of penis
157657	CFAP418	HP:0008724	Hypoplasia of the ovary
157657	CFAP418	HP:0000085	Horseshoe kidney
157657	CFAP418	HP:0001395	Hepatic fibrosis
157657	CFAP418	HP:0001347	Hyperreflexia
157657	CFAP418	HP:0000035	Abnormal testis morphology
157657	CFAP418	HP:0000028	Cryptorchidism
157657	CFAP418	HP:0000007	Autosomal recessive inheritance
157657	CFAP418	HP:0000003	Multicystic kidney dysplasia
157657	CFAP418	HP:0000006	Autosomal dominant inheritance
157657	CFAP418	HP:0000164	Abnormality of the dentition
157657	CFAP418	HP:0000135	Hypogonadism
157657	CFAP418	HP:0007675	Progressive night blindness
157657	CFAP418	HP:0007663	Reduced visual acuity
157657	CFAP418	HP:0000100	Nephrotic syndrome
157657	CFAP418	HP:0001419	X-linked recessive inheritance
157657	CFAP418	HP:0005978	Type II diabetes mellitus
157657	CFAP418	HP:0002167	Abnormality of speech or vocalization
157657	CFAP418	HP:0002230	Generalized hirsutism
157657	CFAP418	HP:0010747	Medial flaring of the eyebrow
157657	CFAP418	HP:0000639	Nystagmus
157657	CFAP418	HP:0000648	Optic atrophy
157657	CFAP418	HP:0000618	Blindness
157657	CFAP418	HP:0000613	Photophobia
157657	CFAP418	HP:0000602	Ophthalmoplegia
157657	CFAP418	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
157657	CFAP418	HP:0000662	Nyctalopia
157657	CFAP418	HP:0000668	Hypodontia
157657	CFAP418	HP:0004322	Short stature
157657	CFAP418	HP:0030631	Hyperautofluorescent macular lesion
157657	CFAP418	HP:0000750	Delayed speech and language development
157657	CFAP418	HP:0000842	Hyperinsulinemia
157657	CFAP418	HP:0000822	Hypertension
157657	CFAP418	HP:0003202	Skeletal muscle atrophy
157657	CFAP418	HP:0100259	Postaxial polydactyly
157657	CFAP418	HP:0000987	Atypical scarring of skin
157657	CFAP418	HP:0008046	Abnormal retinal vascular morphology
157657	CFAP418	HP:0007703	Abnormality of retinal pigmentation
157657	CFAP418	HP:0007750	Hypoplasia of the fovea
157657	CFAP418	HP:0007737	Bone spicule pigmentation of the retina
157657	CFAP418	HP:0025502	Overweight
157657	CFAP418	HP:0001513	Obesity
157657	CFAP418	HP:0007843	Attenuation of retinal blood vessels
157657	CFAP418	HP:0002910	Elevated hepatic transaminase
157657	CFAP418	HP:0000365	Hearing impairment
157657	CFAP418	HP:0000368	Low-set, posteriorly rotated ears
157657	CFAP418	HP:0031605	Abnormality of fundus pigmentation
157657	CFAP418	HP:0030329	Retinal thinning
157657	CFAP418	HP:0000407	Sensorineural hearing impairment
157657	CFAP418	HP:0000405	Conductive hearing impairment
157657	CFAP418	HP:0000494	Downslanted palpebral fissures
157657	CFAP418	HP:0000463	Anteverted nares
157657	CFAP418	HP:0000470	Short neck
157657	CFAP418	HP:0000431	Wide nasal bridge
157657	CFAP418	HP:0000426	Prominent nasal bridge
157657	CFAP418	HP:0000518	Cataract
157657	CFAP418	HP:0000510	Rod-cone dystrophy
157657	CFAP418	HP:0000512	Abnormal electroretinogram
157657	CFAP418	HP:0000529	Progressive visual loss
157657	CFAP418	HP:0000505	Visual impairment
157657	CFAP418	HP:0000501	Glaucoma
157657	CFAP418	HP:0000580	Pigmentary retinopathy
157657	CFAP418	HP:0000563	Keratoconus
157657	CFAP418	HP:0000551	Color vision defect
157657	CFAP418	HP:0000548	Cone/cone-rod dystrophy
157657	CFAP418	HP:0000543	Optic disc pallor
157657	CFAP418	HP:0000545	Myopia
157680	VPS13B	HP:0001182	Tapered finger
157680	VPS13B	HP:0001166	Arachnodactyly
157680	VPS13B	HP:0001135	Chorioretinal dystrophy
157680	VPS13B	HP:0009906	Aplasia/Hypoplasia of the earlobes
157680	VPS13B	HP:0001290	Generalized hypotonia
157680	VPS13B	HP:0001270	Motor delay
157680	VPS13B	HP:0001250	Seizure
157680	VPS13B	HP:0001252	Hypotonia
157680	VPS13B	HP:0001249	Intellectual disability
157680	VPS13B	HP:0001263	Global developmental delay
157680	VPS13B	HP:0006101	Finger syndactyly
157680	VPS13B	HP:0100874	Thick hair
157680	VPS13B	HP:0001382	Joint hypermobility
157680	VPS13B	HP:0000028	Cryptorchidism
157680	VPS13B	HP:0008872	Feeding difficulties in infancy
157680	VPS13B	HP:0000007	Autosomal recessive inheritance
157680	VPS13B	HP:0002650	Scoliosis
157680	VPS13B	HP:0001321	Cerebellar hypoplasia
157680	VPS13B	HP:0001319	Neonatal hypotonia
157680	VPS13B	HP:0008915	Childhood-onset truncal obesity
157680	VPS13B	HP:0000194	Open mouth
157680	VPS13B	HP:0000164	Abnormality of the dentition
157680	VPS13B	HP:0007663	Reduced visual acuity
157680	VPS13B	HP:0002705	High, narrow palate
157680	VPS13B	HP:0002167	Abnormality of speech or vocalization
157680	VPS13B	HP:0010669	Hypoplasia of the zygomatic bone
157680	VPS13B	HP:0007074	Thick corpus callosum
157680	VPS13B	HP:0001000	Abnormality of skin pigmentation
157680	VPS13B	HP:0009804	Tooth agenesis
157680	VPS13B	HP:0200046	Cat cry
157680	VPS13B	HP:0010743	Short metatarsal
157680	VPS13B	HP:0004209	Clinodactyly of the 5th finger
157680	VPS13B	HP:0004283	Narrow palm
157680	VPS13B	HP:0000639	Nystagmus
157680	VPS13B	HP:0000648	Optic atrophy
157680	VPS13B	HP:0000612	Iris coloboma
157680	VPS13B	HP:0010049	Short metacarpal
157680	VPS13B	HP:0000675	Macrodontia of permanent maxillary central incisor
157680	VPS13B	HP:0000662	Nyctalopia
157680	VPS13B	HP:0011308	Slender toe
157680	VPS13B	HP:0004322	Short stature
157680	VPS13B	HP:0005692	Joint hyperflexibility
157680	VPS13B	HP:0000767	Pectus excavatum
157680	VPS13B	HP:0011504	Bull's eye maculopathy
157680	VPS13B	HP:0000824	Decreased response to growth hormone stimulation test
157680	VPS13B	HP:0000823	Delayed puberty
157680	VPS13B	HP:0010295	Aplasia/Hypoplasia of the tongue
157680	VPS13B	HP:0003272	Abnormal hip bone morphology
157680	VPS13B	HP:0000954	Single transverse palmar crease
157680	VPS13B	HP:0007703	Abnormality of retinal pigmentation
157680	VPS13B	HP:0000297	Facial hypotonia
157680	VPS13B	HP:0000294	Low anterior hairline
157680	VPS13B	HP:0007737	Bone spicule pigmentation of the retina
157680	VPS13B	HP:0002808	Kyphosis
157680	VPS13B	HP:0001572	Macrodontia
157680	VPS13B	HP:0000252	Microcephaly
157680	VPS13B	HP:0000212	Gingival overgrowth
157680	VPS13B	HP:0001558	Decreased fetal movement
157680	VPS13B	HP:0001531	Failure to thrive in infancy
157680	VPS13B	HP:0002857	Genu valgum
157680	VPS13B	HP:0001518	Small for gestational age
157680	VPS13B	HP:0001511	Intrauterine growth retardation
157680	VPS13B	HP:0001513	Obesity
157680	VPS13B	HP:0000384	Preauricular skin tag
157680	VPS13B	HP:0002938	Lumbar hyperlordosis
157680	VPS13B	HP:0001601	Laryngomalacia
157680	VPS13B	HP:0002943	Thoracic scoliosis
157680	VPS13B	HP:0001612	Weak cry
157680	VPS13B	HP:0000347	Micrognathia
157680	VPS13B	HP:0000327	Hypoplasia of the maxilla
157680	VPS13B	HP:0000322	Short philtrum
157680	VPS13B	HP:0001629	Ventricular septal defect
157680	VPS13B	HP:0002967	Cubitus valgus
157680	VPS13B	HP:0001634	Mitral valve prolapse
157680	VPS13B	HP:0000499	Abnormal eyelash morphology
157680	VPS13B	HP:0000407	Sensorineural hearing impairment
157680	VPS13B	HP:0000486	Strabismus
157680	VPS13B	HP:0000494	Downslanted palpebral fissures
157680	VPS13B	HP:0000492	Abnormal eyelid morphology
157680	VPS13B	HP:0001763	Pes planus
157680	VPS13B	HP:0000444	Convex nasal ridge
157680	VPS13B	HP:0000426	Prominent nasal bridge
157680	VPS13B	HP:0000527	Long eyelashes
157680	VPS13B	HP:0001852	Sandal gap
157680	VPS13B	HP:0000505	Visual impairment
157680	VPS13B	HP:0000574	Thick eyebrow
157680	VPS13B	HP:0000568	Microphthalmia
157680	VPS13B	HP:0001882	Leukopenia
157680	VPS13B	HP:0000545	Myopia
157680	VPS13B	HP:0001875	Neutropenia
158326	FREM1	HP:0001126	Cryptophthalmos
158326	FREM1	HP:0001256	Intellectual disability, mild
158326	FREM1	HP:0001263	Global developmental delay
158326	FREM1	HP:0000007	Autosomal recessive inheritance
158326	FREM1	HP:0000006	Autosomal dominant inheritance
158326	FREM1	HP:0000143	Rectovaginal fistula
158326	FREM1	HP:0000122	Unilateral renal agenesis
158326	FREM1	HP:0000104	Renal agenesis
158326	FREM1	HP:0002025	Anal stenosis
158326	FREM1	HP:0011803	Bifid nose
158326	FREM1	HP:0010720	Abnormal hair pattern
158326	FREM1	HP:0000636	Upper eyelid coloboma
158326	FREM1	HP:0000625	Eyelid coloboma
158326	FREM1	HP:0000601	Hypotelorism
158326	FREM1	HP:0011330	Metopic synostosis
158326	FREM1	HP:0000664	Synophrys
158326	FREM1	HP:0000826	Precocious puberty
158326	FREM1	HP:0010322	Abnormal fifth toe morphology
158326	FREM1	HP:0010316	Ebstein anomaly of the tricuspid valve
158326	FREM1	HP:0001595	Abnormal hair morphology
158326	FREM1	HP:0012252	Abnormal respiratory system morphology
158326	FREM1	HP:0000243	Trigonocephaly
158326	FREM1	HP:0001566	Widely-spaced maxillary central incisors
158326	FREM1	HP:0000252	Microcephaly
158326	FREM1	HP:0000248	Brachycephaly
158326	FREM1	HP:0001545	Anteriorly placed anus
158326	FREM1	HP:0000200	Short lingual frenulum
158326	FREM1	HP:0001539	Omphalocele
158326	FREM1	HP:0000396	Overfolded helix
158326	FREM1	HP:0000358	Posteriorly rotated ears
158326	FREM1	HP:0000369	Low-set ears
158326	FREM1	HP:0000336	Prominent supraorbital ridges
158326	FREM1	HP:0000316	Hypertelorism
158326	FREM1	HP:0000322	Short philtrum
158326	FREM1	HP:0005280	Depressed nasal bridge
158326	FREM1	HP:0000494	Downslanted palpebral fissures
158326	FREM1	HP:0000456	Bifid nasal tip
158326	FREM1	HP:0000414	Bulbous nose
158326	FREM1	HP:0000431	Wide nasal bridge
158326	FREM1	HP:0000528	Anophthalmia
158326	FREM1	HP:0000579	Nasolacrimal duct obstruction
158326	FREM1	HP:0000574	Thick eyebrow
158326	FREM1	HP:0000568	Microphthalmia
158401	SHOC1	HP:0031039	Early spermatogenesis maturation arrest
158401	SHOC1	HP:0000007	Autosomal recessive inheritance
158401	SHOC1	HP:0008232	Elevated circulating follicle stimulating hormone level
158401	SHOC1	HP:0011961	Non-obstructive azoospermia
158401	SHOC1	HP:0011462	Young adult onset
158401	SHOC1	HP:0003251	Male infertility
159686	CFAP58	HP:0000007	Autosomal recessive inheritance
159686	CFAP58	HP:0032558	Absent sperm flagella
159686	CFAP58	HP:0032559	Short sperm flagella
159686	CFAP58	HP:0032560	Coiled sperm flagella
159686	CFAP58	HP:0003581	Adult onset
159686	CFAP58	HP:0003251	Male infertility
159686	CFAP58	HP:0012207	Reduced sperm motility
160418	TMTC3	HP:0007260	Type II lissencephaly
160418	TMTC3	HP:0010862	Delayed fine motor development
160418	TMTC3	HP:0001250	Seizure
160418	TMTC3	HP:0001249	Intellectual disability
160418	TMTC3	HP:0001263	Global developmental delay
160418	TMTC3	HP:0007359	Focal-onset seizure
160418	TMTC3	HP:0003834	Shoulder dislocation
160418	TMTC3	HP:0001382	Joint hypermobility
160418	TMTC3	HP:0001344	Absent speech
160418	TMTC3	HP:0000007	Autosomal recessive inheritance
160418	TMTC3	HP:0002650	Scoliosis
160418	TMTC3	HP:0001321	Cerebellar hypoplasia
160418	TMTC3	HP:0008936	Axial hypotonia
160418	TMTC3	HP:0002021	Pyloric stenosis
160418	TMTC3	HP:0002020	Gastroesophageal reflux
160418	TMTC3	HP:0002085	Occipital encephalocele
160418	TMTC3	HP:0002079	Hypoplasia of the corpus callosum
160418	TMTC3	HP:0002119	Ventriculomegaly
160418	TMTC3	HP:0002126	Polymicrogyria
160418	TMTC3	HP:0002194	Delayed gross motor development
160418	TMTC3	HP:0003593	Infantile onset
160418	TMTC3	HP:0100790	Hernia
160418	TMTC3	HP:0002365	Hypoplasia of the brainstem
160418	TMTC3	HP:0007165	Periventricular heterotopia
160418	TMTC3	HP:0004942	Aortic aneurysm
160418	TMTC3	HP:0006808	Cerebral hypomyelination
160418	TMTC3	HP:0031882	Agyria
160418	TMTC3	HP:0000648	Optic atrophy
160418	TMTC3	HP:0012639	Abnormal nervous system morphology
160418	TMTC3	HP:0006951	Retrocerebellar cyst
160418	TMTC3	HP:0031936	Delayed ability to walk
160418	TMTC3	HP:0000750	Delayed speech and language development
160418	TMTC3	HP:0000729	Autistic behavior
160418	TMTC3	HP:0003236	Elevated circulating creatine kinase concentration
160418	TMTC3	HP:0003202	Skeletal muscle atrophy
160418	TMTC3	HP:0034353	Appendicular spasticity
160418	TMTC3	HP:0000963	Thin skin
160418	TMTC3	HP:0000252	Microcephaly
160418	TMTC3	HP:0002999	Patellar dislocation
160418	TMTC3	HP:0001643	Patent ductus arteriosus
160418	TMTC3	HP:0001659	Aortic regurgitation
160418	TMTC3	HP:0001654	Abnormal heart valve morphology
160418	TMTC3	HP:0012434	Delayed social development
160418	TMTC3	HP:0001762	Talipes equinovarus
160418	TMTC3	HP:0000518	Cataract
160418	TMTC3	HP:0001892	Abnormal bleeding
160418	TMTC3	HP:0000568	Microphthalmia
161497	STRC	HP:0008619	Bilateral sensorineural hearing impairment
161497	STRC	HP:0008669	Abnormal spermatogenesis
161497	STRC	HP:0000027	Azoospermia
161497	STRC	HP:0000007	Autosomal recessive inheritance
161497	STRC	HP:0003577	Congenital onset
161497	STRC	HP:0011462	Young adult onset
161497	STRC	HP:0000798	Oligospermia
161497	STRC	HP:0012868	Abnormal sperm tail morphology
161497	STRC	HP:0012865	Abnormal sperm head morphology
161497	STRC	HP:0003251	Male infertility
161497	STRC	HP:0012207	Reduced sperm motility
161497	STRC	HP:0012208	Immotile sperm
161497	STRC	HP:0000407	Sensorineural hearing impairment
161497	STRC	HP:0001751	Abnormal vestibular function
161582	DNAAF4	HP:0025177	Peribronchovascular interstitial thickening
161582	DNAAF4	HP:0002566	Intestinal malrotation
161582	DNAAF4	HP:0001217	Clubbing
161582	DNAAF4	HP:0000007	Autosomal recessive inheritance
161582	DNAAF4	HP:0000006	Autosomal dominant inheritance
161582	DNAAF4	HP:0002643	Neonatal respiratory distress
161582	DNAAF4	HP:0000119	Abnormality of the genitourinary system
161582	DNAAF4	HP:0032543	Lithoptysis
161582	DNAAF4	HP:0031245	Productive cough
161582	DNAAF4	HP:0002020	Gastroesophageal reflux
161582	DNAAF4	HP:0002011	Morphological central nervous system abnormality
161582	DNAAF4	HP:0100582	Nasal polyposis
161582	DNAAF4	HP:0002119	Ventriculomegaly
161582	DNAAF4	HP:0002110	Bronchiectasis
161582	DNAAF4	HP:0008222	Female infertility
161582	DNAAF4	HP:0010522	Dyslexia
161582	DNAAF4	HP:0003593	Infantile onset
161582	DNAAF4	HP:0002257	Chronic rhinitis
161582	DNAAF4	HP:0002205	Recurrent respiratory infections
161582	DNAAF4	HP:0100750	Atelectasis
161582	DNAAF4	HP:0032016	Abnormal sputum
161582	DNAAF4	HP:0011947	Respiratory tract infection
161582	DNAAF4	HP:0010772	Anomalous pulmonary venous return
161582	DNAAF4	HP:0030680	Abnormality of cardiovascular system morphology
161582	DNAAF4	HP:0000750	Delayed speech and language development
161582	DNAAF4	HP:0000789	Infertility
161582	DNAAF4	HP:0000924	Abnormality of the skeletal system
161582	DNAAF4	HP:0004469	Chronic bronchitis
161582	DNAAF4	HP:0011539	Atrial situs ambiguous
161582	DNAAF4	HP:0011535	Abnormal atrial arrangement
161582	DNAAF4	HP:0030828	Wheezing
161582	DNAAF4	HP:0003251	Male infertility
161582	DNAAF4	HP:0034315	Chronic cough
161582	DNAAF4	HP:0011617	Pulmonary situs ambiguus
161582	DNAAF4	HP:0025576	Abnormal inferior vena cava morphology
161582	DNAAF4	HP:0012265	Ciliary dyskinesia
161582	DNAAF4	HP:0012263	Immotile cilia
161582	DNAAF4	HP:0000238	Hydrocephalus
161582	DNAAF4	HP:0000252	Microcephaly
161582	DNAAF4	HP:0012206	Abnormal sperm motility
161582	DNAAF4	HP:0002878	Respiratory failure
161582	DNAAF4	HP:0006510	Chronic pulmonary obstruction
161582	DNAAF4	HP:0000389	Chronic otitis media
161582	DNAAF4	HP:0006532	Recurrent pneumonia
161582	DNAAF4	HP:0006536	Airway obstruction
161582	DNAAF4	HP:0001696	Situs inversus totalis
161582	DNAAF4	HP:0000365	Hearing impairment
161582	DNAAF4	HP:0001669	Transposition of the great arteries
161582	DNAAF4	HP:0031456	Ectopic pregnancy
161582	DNAAF4	HP:0001651	Dextrocardia
161582	DNAAF4	HP:0001627	Abnormal heart morphology
161582	DNAAF4	HP:0005301	Persistent left superior vena cava
161582	DNAAF4	HP:0000403	Recurrent otitis media
161582	DNAAF4	HP:0000405	Conductive hearing impairment
161582	DNAAF4	HP:0001719	Double outlet right ventricle
161582	DNAAF4	HP:0011109	Chronic sinusitis
161582	DNAAF4	HP:0011108	Recurrent sinusitis
161582	DNAAF4	HP:0001746	Asplenia
161582	DNAAF4	HP:0001748	Polysplenia
161582	DNAAF4	HP:0001742	Nasal congestion
161582	DNAAF4	HP:0005425	Recurrent sinopulmonary infections
161582	DNAAF4	HP:0011274	Recurrent mycobacterial infections
161582	DNAAF4	HP:0000510	Rod-cone dystrophy
161742	SPRED1	HP:0001114	Xanthelasma
161742	SPRED1	HP:0001270	Motor delay
161742	SPRED1	HP:0001250	Seizure
161742	SPRED1	HP:0001252	Hypotonia
161742	SPRED1	HP:0410263	Brain imaging abnormality
161742	SPRED1	HP:0007565	Multiple cafe-au-lait spots
161742	SPRED1	HP:0001332	Dystonia
161742	SPRED1	HP:0001328	Specific learning disability
161742	SPRED1	HP:0002667	Nephroblastoma
161742	SPRED1	HP:0000006	Autosomal dominant inheritance
161742	SPRED1	HP:0002650	Scoliosis
161742	SPRED1	HP:0001480	Freckling
161742	SPRED1	HP:0002705	High, narrow palate
161742	SPRED1	HP:0100543	Cognitive impairment
161742	SPRED1	HP:0010442	Polydactyly
161742	SPRED1	HP:0002162	Low posterior hairline
161742	SPRED1	HP:0009588	Vestibular schwannoma
161742	SPRED1	HP:0009734	Optic nerve glioma
161742	SPRED1	HP:0009737	Lisch nodules
161742	SPRED1	HP:0007018	Attention deficit hyperactivity disorder
161742	SPRED1	HP:0032077	Male urethral meatus stenosis
161742	SPRED1	HP:0004845	Acute monocytic leukemia
161742	SPRED1	HP:0007099	Chiari type I malformation
161742	SPRED1	HP:0001067	Neurofibromas
161742	SPRED1	HP:0001012	Multiple lipomas
161742	SPRED1	HP:0100615	Ovarian neoplasm
161742	SPRED1	HP:0004209	Clinodactyly of the 5th finger
161742	SPRED1	HP:0004322	Short stature
161742	SPRED1	HP:0100006	Neoplasm of the central nervous system
161742	SPRED1	HP:0000752	Hyperactivity
161742	SPRED1	HP:0000767	Pectus excavatum
161742	SPRED1	HP:0000766	Abnormal sternum morphology
161742	SPRED1	HP:0000736	Short attention span
161742	SPRED1	HP:0000750	Delayed speech and language development
161742	SPRED1	HP:0000708	Atypical behavior
161742	SPRED1	HP:0000787	Nephrolithiasis
161742	SPRED1	HP:0100252	Diaphyseal dysplasia
161742	SPRED1	HP:0000997	Axillary freckling
161742	SPRED1	HP:0000957	Cafe-au-lait spot
161742	SPRED1	HP:0034349	Supravalvar pulmonary stenosis
161742	SPRED1	HP:0100245	Desmoid tumors
161742	SPRED1	HP:0000286	Epicanthus
161742	SPRED1	HP:0000256	Macrocephaly
161742	SPRED1	HP:0000218	High palate
161742	SPRED1	HP:0030052	Inguinal freckling
161742	SPRED1	HP:0000365	Hearing impairment
161742	SPRED1	HP:0000358	Posteriorly rotated ears
161742	SPRED1	HP:0000369	Low-set ears
161742	SPRED1	HP:0000347	Micrognathia
161742	SPRED1	HP:0000316	Hypertelorism
161742	SPRED1	HP:0001642	Pulmonic stenosis
161742	SPRED1	HP:0000325	Triangular face
161742	SPRED1	HP:0001634	Mitral valve prolapse
161742	SPRED1	HP:0006671	Paroxysmal atrial tachycardia
161742	SPRED1	HP:0000494	Downslanted palpebral fissures
161742	SPRED1	HP:0000470	Short neck
161742	SPRED1	HP:0000518	Cataract
161742	SPRED1	HP:0000508	Ptosis
161742	SPRED1	HP:0030358	Non-small cell lung carcinoma
162417	NAGS	HP:0002465	Poor speech
162417	NAGS	HP:0001298	Encephalopathy
162417	NAGS	HP:0001297	Stroke
162417	NAGS	HP:0001271	Polyneuropathy
162417	NAGS	HP:0001289	Confusion
162417	NAGS	HP:0001254	Lethargy
162417	NAGS	HP:0001250	Seizure
162417	NAGS	HP:0001251	Ataxia
162417	NAGS	HP:0001263	Global developmental delay
162417	NAGS	HP:0001259	Coma
162417	NAGS	HP:0000007	Autosomal recessive inheritance
162417	NAGS	HP:0002637	Cerebral ischemia
162417	NAGS	HP:0410068	Increased level of L-glutamic acid in blood
162417	NAGS	HP:0008947	Infantile muscular hypotonia
162417	NAGS	HP:0031258	Delirium
162417	NAGS	HP:0002018	Nausea
162417	NAGS	HP:0003348	Hyperalaninemia
162417	NAGS	HP:0002014	Diarrhea
162417	NAGS	HP:0002013	Vomiting
162417	NAGS	HP:0100543	Cognitive impairment
162417	NAGS	HP:0002098	Respiratory distress
162417	NAGS	HP:0010550	Paraplegia
162417	NAGS	HP:0010529	Echolalia
162417	NAGS	HP:0008281	Acute hyperammonemia
162417	NAGS	HP:0002240	Hepatomegaly
162417	NAGS	HP:0100785	Insomnia
162417	NAGS	HP:0011968	Feeding difficulties
162417	NAGS	HP:0002315	Headache
162417	NAGS	HP:0002329	Drowsiness
162417	NAGS	HP:0007185	Loss of consciousness
162417	NAGS	HP:0001987	Hyperammonemia
162417	NAGS	HP:0004396	Poor appetite
162417	NAGS	HP:0000739	Anxiety
162417	NAGS	HP:0000733	Abnormal repetitive mannerisms
162417	NAGS	HP:0000718	Aggressive behavior
162417	NAGS	HP:0000712	Emotional lability
162417	NAGS	HP:0000713	Agitation
162417	NAGS	HP:0000725	Psychotic episodes
162417	NAGS	HP:0000708	Atypical behavior
162417	NAGS	HP:0003217	Hyperglutaminemia
162417	NAGS	HP:0000252	Microcephaly
162417	NAGS	HP:0002863	Myelodysplasia
162417	NAGS	HP:0001508	Failure to thrive
162417	NAGS	HP:0012378	Fatigue
162417	NAGS	HP:0006582	Reye syndrome-like episodes
162514	TRPV3	HP:0001250	Seizure
162514	TRPV3	HP:0001231	Abnormal fingernail morphology
162514	TRPV3	HP:0007410	Palmoplantar hyperhidrosis
162514	TRPV3	HP:0031057	Skin fissure
162514	TRPV3	HP:0031013	Ankylosis
162514	TRPV3	HP:0001371	Flexion contracture
162514	TRPV3	HP:0007460	Autoamputation of digits
162514	TRPV3	HP:0000006	Autosomal dominant inheritance
162514	TRPV3	HP:0000164	Abnormality of the dentition
162514	TRPV3	HP:0000157	Abnormality of the tongue
162514	TRPV3	HP:0000168	Abnormality of the gingiva
162514	TRPV3	HP:0002797	Osteolysis
162514	TRPV3	HP:0100526	Neoplasm of the lung
162514	TRPV3	HP:0002164	Nail dysplasia
162514	TRPV3	HP:0011830	Abnormal oral mucosa morphology
162514	TRPV3	HP:0003593	Infantile onset
162514	TRPV3	HP:0008404	Nail dystrophy
162514	TRPV3	HP:0002289	Alopecia universalis
162514	TRPV3	HP:0008392	Subungual hyperkeratosis
162514	TRPV3	HP:0001036	Parakeratosis
162514	TRPV3	HP:0001072	Thickened skin
162514	TRPV3	HP:0200042	Skin ulcer
162514	TRPV3	HP:0010783	Erythema
162514	TRPV3	HP:0009775	Amniotic constriction ring
162514	TRPV3	HP:0005588	Patchy palmoplantar hyperkeratosis
162514	TRPV3	HP:0000670	Carious teeth
162514	TRPV3	HP:0000668	Hypodontia
162514	TRPV3	HP:0040009	Hyperparakeratosis
162514	TRPV3	HP:0000975	Hyperhidrosis
162514	TRPV3	HP:0000989	Pruritus
162514	TRPV3	HP:0000982	Palmoplantar keratoderma
162514	TRPV3	HP:0000970	Anhidrosis
162514	TRPV3	HP:0040162	Orthokeratosis
162514	TRPV3	HP:0008070	Sparse hair
162514	TRPV3	HP:0008069	Neoplasm of the skin
162514	TRPV3	HP:0001596	Alopecia
162514	TRPV3	HP:0007759	Opacification of the corneal stroma
162514	TRPV3	HP:0002861	Melanoma
162514	TRPV3	HP:0007957	Corneal opacity
162514	TRPV3	HP:0000407	Sensorineural hearing impairment
163175	LGI4	HP:0002421	Poor head control
163175	LGI4	HP:0001284	Areflexia
163175	LGI4	HP:0001252	Hypotonia
163175	LGI4	HP:0003826	Stillbirth
163175	LGI4	HP:0001376	Limitation of joint mobility
163175	LGI4	HP:0001371	Flexion contracture
163175	LGI4	HP:0000007	Autosomal recessive inheritance
163175	LGI4	HP:0001315	Reduced tendon reflexes
163175	LGI4	HP:0002089	Pulmonary hypoplasia
163175	LGI4	HP:0002098	Respiratory distress
163175	LGI4	HP:0002069	Bilateral tonic-clonic seizure
163175	LGI4	HP:0003457	EMG abnormality
163175	LGI4	HP:0002384	Focal impaired awareness seizure
163175	LGI4	HP:0003691	Scapular winging
163175	LGI4	HP:0000678	Dental crowding
163175	LGI4	HP:0001989	Fetal akinesia sequence
163175	LGI4	HP:0005684	Distal arthrogryposis
163175	LGI4	HP:0011461	Fetal onset
163175	LGI4	HP:0003273	Hip contracture
163175	LGI4	HP:0000278	Retrognathia
163175	LGI4	HP:0006466	Ankle flexion contracture
163175	LGI4	HP:0002804	Arthrogryposis multiplex congenita
163175	LGI4	HP:0006380	Knee flexion contracture
163175	LGI4	HP:0000218	High palate
163175	LGI4	HP:0001558	Decreased fetal movement
163175	LGI4	HP:0012385	Camptodactyly
163175	LGI4	HP:0000341	Narrow forehead
163175	LGI4	HP:0000347	Micrognathia
163175	LGI4	HP:0002987	Elbow flexion contracture
163175	LGI4	HP:0006659	Internally rotated shoulders
163175	LGI4	HP:0000486	Strabismus
163175	LGI4	HP:0000411	Protruding ear
163175	LGI4	HP:0001762	Talipes equinovarus
163175	LGI4	HP:0000508	Ptosis
163175	LGI4	HP:0000565	Esotropia
163183	SYNE4	HP:0000007	Autosomal recessive inheritance
163183	SYNE4	HP:0003593	Infantile onset
163183	SYNE4	HP:0003577	Congenital onset
163183	SYNE4	HP:0011463	Childhood onset
163183	SYNE4	HP:0000408	Progressive sensorineural hearing impairment
163786	SASS6	HP:0002465	Poor speech
163786	SASS6	HP:0010864	Intellectual disability, severe
163786	SASS6	HP:0001274	Agenesis of corpus callosum
163786	SASS6	HP:0001250	Seizure
163786	SASS6	HP:0001263	Global developmental delay
163786	SASS6	HP:0007333	Hypoplasia of the frontal lobes
163786	SASS6	HP:0000076	Vesicoureteral reflux
163786	SASS6	HP:0001347	Hyperreflexia
163786	SASS6	HP:0000007	Autosomal recessive inheritance
163786	SASS6	HP:0001302	Pachygyria
163786	SASS6	HP:0001320	Cerebellar vermis hypoplasia
163786	SASS6	HP:0000122	Unilateral renal agenesis
163786	SASS6	HP:0002119	Ventriculomegaly
163786	SASS6	HP:0003577	Congenital onset
163786	SASS6	HP:0002282	Gray matter heterotopia
163786	SASS6	HP:0004322	Short stature
163786	SASS6	HP:0000718	Aggressive behavior
163786	SASS6	HP:0011451	Primary microcephaly
163786	SASS6	HP:0003103	Abnormal cortical bone morphology
163786	SASS6	HP:0000252	Microcephaly
163786	SASS6	HP:0000219	Thin upper lip vermilion
163786	SASS6	HP:0001510	Growth delay
163786	SASS6	HP:0000340	Sloping forehead
163786	SASS6	HP:0000582	Upslanted palpebral fissure
164045	HFM1	HP:0008724	Hypoplasia of the ovary
164045	HFM1	HP:0000007	Autosomal recessive inheritance
164045	HFM1	HP:0000141	Amenorrhea
164045	HFM1	HP:0008232	Elevated circulating follicle stimulating hormone level
164045	HFM1	HP:0008209	Premature ovarian insufficiency
164045	HFM1	HP:0011969	Elevated circulating luteinizing hormone level
164045	HFM1	HP:0011462	Young adult onset
164656	TMPRSS6	HP:0001249	Intellectual disability
164656	TMPRSS6	HP:0000007	Autosomal recessive inheritance
164656	TMPRSS6	HP:0001406	Intrahepatic cholestasis
164656	TMPRSS6	HP:0002242	Abnormal intestine morphology
164656	TMPRSS6	HP:0011967	Decreased circulating copper concentration
164656	TMPRSS6	HP:0004840	Hypochromic microcytic anemia
164656	TMPRSS6	HP:0009830	Peripheral neuropathy
164656	TMPRSS6	HP:0031877	Elevated circulating hepcidin concentration
164656	TMPRSS6	HP:0004447	Poikilocytosis
164656	TMPRSS6	HP:0000980	Pallor
164656	TMPRSS6	HP:0000962	Hyperkeratosis
164656	TMPRSS6	HP:0008064	Ichthyosis
164656	TMPRSS6	HP:0011273	Anisocytosis
165918	RNF168	HP:0001288	Gait disturbance
165918	RNF168	HP:0001251	Ataxia
165918	RNF168	HP:0001263	Global developmental delay
165918	RNF168	HP:0010997	Chromosomal breakage induced by ionizing radiation
165918	RNF168	HP:0002500	Abnormal cerebral white matter morphology
165918	RNF168	HP:0001369	Arthritis
165918	RNF168	HP:0001328	Specific learning disability
165918	RNF168	HP:0000007	Autosomal recessive inheritance
165918	RNF168	HP:0008940	Generalized lymphadenopathy
165918	RNF168	HP:0006254	Elevated circulating alpha-fetoprotein concentration
165918	RNF168	HP:0002720	Decreased circulating IgA level
165918	RNF168	HP:0002721	Immunodeficiency
165918	RNF168	HP:0002027	Abdominal pain
165918	RNF168	HP:0002014	Diarrhea
165918	RNF168	HP:0002090	Pneumonia
165918	RNF168	HP:0002091	Restrictive ventilatory defect
165918	RNF168	HP:0002206	Pulmonary fibrosis
165918	RNF168	HP:0010677	Enuresis nocturna
165918	RNF168	HP:0007057	Poor hand-eye coordination
165918	RNF168	HP:0001009	Telangiectasia
165918	RNF168	HP:0002315	Headache
165918	RNF168	HP:0010783	Erythema
165918	RNF168	HP:0007108	Demyelinating peripheral neuropathy
165918	RNF168	HP:0002312	Clumsiness
165918	RNF168	HP:0001954	Recurrent fever
165918	RNF168	HP:0011342	Mild global developmental delay
165918	RNF168	HP:0001999	Abnormal facial shape
165918	RNF168	HP:0004322	Short stature
165918	RNF168	HP:0004315	Decreased circulating IgG level
165918	RNF168	HP:0000712	Emotional lability
165918	RNF168	HP:0012768	Neonatal asphyxia
165918	RNF168	HP:0030746	Intraventricular hemorrhage
165918	RNF168	HP:0004429	Recurrent viral infections
165918	RNF168	HP:0000958	Dry skin
165918	RNF168	HP:0040189	Scaling skin
165918	RNF168	HP:0000252	Microcephaly
165918	RNF168	HP:0002878	Respiratory failure
165918	RNF168	HP:0002850	Decreased circulating total IgM
165918	RNF168	HP:0012387	Bronchitis
165918	RNF168	HP:0000388	Otitis media
165918	RNF168	HP:0006530	Abnormal pulmonary interstitial morphology
165918	RNF168	HP:0006532	Recurrent pneumonia
165918	RNF168	HP:0011133	Increased sensitivity to ionizing radiation
165918	RNF168	HP:0011109	Chronic sinusitis
165918	RNF168	HP:0011108	Recurrent sinusitis
165918	RNF168	HP:0000524	Conjunctival telangiectasia
165918	RNF168	HP:0001824	Weight loss
166378	AFG2A	HP:0010864	Intellectual disability, severe
166378	AFG2A	HP:0001276	Hypertonia
166378	AFG2A	HP:0001250	Seizure
166378	AFG2A	HP:0001252	Hypotonia
166378	AFG2A	HP:0001263	Global developmental delay
166378	AFG2A	HP:0001257	Spasticity
166378	AFG2A	HP:0002540	Inability to walk
166378	AFG2A	HP:0033725	Thin corpus callosum
166378	AFG2A	HP:0001344	Absent speech
166378	AFG2A	HP:0000007	Autosomal recessive inheritance
166378	AFG2A	HP:0002650	Scoliosis
166378	AFG2A	HP:0008936	Axial hypotonia
166378	AFG2A	HP:0002721	Immunodeficiency
166378	AFG2A	HP:0002020	Gastroesophageal reflux
166378	AFG2A	HP:0002079	Hypoplasia of the corpus callosum
166378	AFG2A	HP:0003429	CNS hypomyelination
166378	AFG2A	HP:0002188	Delayed CNS myelination
166378	AFG2A	HP:0003593	Infantile onset
166378	AFG2A	HP:0003577	Congenital onset
166378	AFG2A	HP:0100704	Cerebral visual impairment
166378	AFG2A	HP:0011968	Feeding difficulties
166378	AFG2A	HP:0002353	EEG abnormality
166378	AFG2A	HP:0000639	Nystagmus
166378	AFG2A	HP:0004322	Short stature
166378	AFG2A	HP:0000252	Microcephaly
166378	AFG2A	HP:0001508	Failure to thrive
166378	AFG2A	HP:0000407	Sensorineural hearing impairment
166378	AFG2A	HP:0000486	Strabismus
166378	AFG2A	HP:0012450	Chronic constipation
166378	AFG2A	HP:0000505	Visual impairment
166378	AFG2A	HP:0001873	Thrombocytopenia
166379	BBS12	HP:0001162	Postaxial hand polydactyly
166379	BBS12	HP:0001249	Intellectual disability
166379	BBS12	HP:0006101	Finger syndactyly
166379	BBS12	HP:0008736	Hypoplasia of penis
166379	BBS12	HP:0008724	Hypoplasia of the ovary
166379	BBS12	HP:0001395	Hepatic fibrosis
166379	BBS12	HP:0000072	Hydroureter
166379	BBS12	HP:0000028	Cryptorchidism
166379	BBS12	HP:0000007	Autosomal recessive inheritance
166379	BBS12	HP:0000003	Multicystic kidney dysplasia
166379	BBS12	HP:0000135	Hypogonadism
166379	BBS12	HP:0000148	Vaginal atresia
166379	BBS12	HP:0000126	Hydronephrosis
166379	BBS12	HP:0000100	Nephrotic syndrome
166379	BBS12	HP:0100543	Cognitive impairment
166379	BBS12	HP:0010442	Polydactyly
166379	BBS12	HP:0002167	Abnormality of speech or vocalization
166379	BBS12	HP:0003577	Congenital onset
166379	BBS12	HP:0002230	Generalized hirsutism
166379	BBS12	HP:0010747	Medial flaring of the eyebrow
166379	BBS12	HP:0000639	Nystagmus
166379	BBS12	HP:0004322	Short stature
166379	BBS12	HP:0000800	Cystic renal dysplasia
166379	BBS12	HP:0000822	Hypertension
166379	BBS12	HP:0003202	Skeletal muscle atrophy
166379	BBS12	HP:0030010	Hydrometrocolpos
166379	BBS12	HP:0001513	Obesity
166379	BBS12	HP:0031500	Abdominal mass
166379	BBS12	HP:0000365	Hearing impairment
166379	BBS12	HP:0000368	Low-set, posteriorly rotated ears
166379	BBS12	HP:0000494	Downslanted palpebral fissures
166379	BBS12	HP:0000470	Short neck
166379	BBS12	HP:0000426	Prominent nasal bridge
166379	BBS12	HP:0000510	Rod-cone dystrophy
166379	BBS12	HP:0000512	Abnormal electroretinogram
166379	BBS12	HP:0001830	Postaxial foot polydactyly
166379	BBS12	HP:0000580	Pigmentary retinopathy
166785	MMAA	HP:0001290	Generalized hypotonia
166785	MMAA	HP:0001254	Lethargy
166785	MMAA	HP:0001250	Seizure
166785	MMAA	HP:0001252	Hypotonia
166785	MMAA	HP:0001263	Global developmental delay
166785	MMAA	HP:0001259	Coma
166785	MMAA	HP:0008872	Feeding difficulties in infancy
166785	MMAA	HP:0000007	Autosomal recessive inheritance
166785	MMAA	HP:0001337	Tremor
166785	MMAA	HP:0012120	Methylmalonic aciduria
166785	MMAA	HP:0002013	Vomiting
166785	MMAA	HP:0002098	Respiratory distress
166785	MMAA	HP:0002154	Hyperglycinemia
166785	MMAA	HP:0003593	Infantile onset
166785	MMAA	HP:0002240	Hepatomegaly
166785	MMAA	HP:0001944	Dehydration
166785	MMAA	HP:0001946	Ketosis
166785	MMAA	HP:0001942	Metabolic acidosis
166785	MMAA	HP:0001903	Anemia
166785	MMAA	HP:0001987	Hyperammonemia
166785	MMAA	HP:0040126	Abnormal vitamin B12 level
166785	MMAA	HP:0003145	Decreased adenosylcobalamin
166785	MMAA	HP:0003210	Decreased methylmalonyl-CoA mutase activity
166785	MMAA	HP:0001508	Failure to thrive
166785	MMAA	HP:0002919	Ketonuria
166785	MMAA	HP:0002912	Methylmalonic acidemia
166785	MMAA	HP:0001873	Thrombocytopenia
166785	MMAA	HP:0001876	Pancytopenia
166785	MMAA	HP:0001875	Neutropenia
166929	SGMS2	HP:0001270	Motor delay
166929	SGMS2	HP:0002684	Thickened calvaria
166929	SGMS2	HP:0000006	Autosomal dominant inheritance
166929	SGMS2	HP:0002650	Scoliosis
166929	SGMS2	HP:0002757	Recurrent fractures
166929	SGMS2	HP:0003510	Severe short stature
166929	SGMS2	HP:0000670	Carious teeth
166929	SGMS2	HP:0000926	Platyspondyly
166929	SGMS2	HP:0003155	Elevated circulating alkaline phosphatase concentration
166929	SGMS2	HP:0000939	Osteoporosis
166929	SGMS2	HP:0000938	Osteopenia
166929	SGMS2	HP:0002980	Femoral bowing
166929	SGMS2	HP:0000410	Mixed hearing impairment
167691	LCA5	HP:0001141	Severely reduced visual acuity
167691	LCA5	HP:0001103	Abnormal macular morphology
167691	LCA5	HP:0001116	Macular coloboma
167691	LCA5	HP:0001250	Seizure
167691	LCA5	HP:0001252	Hypotonia
167691	LCA5	HP:0001249	Intellectual disability
167691	LCA5	HP:0001263	Global developmental delay
167691	LCA5	HP:0000007	Autosomal recessive inheritance
167691	LCA5	HP:0007663	Reduced visual acuity
167691	LCA5	HP:0002084	Encephalocele
167691	LCA5	HP:0002172	Postural instability
167691	LCA5	HP:0003593	Infantile onset
167691	LCA5	HP:0002269	Abnormality of neuronal migration
167691	LCA5	HP:0002317	Unsteady gait
167691	LCA5	HP:0008499	High hypermetropia
167691	LCA5	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
167691	LCA5	HP:0000639	Nystagmus
167691	LCA5	HP:0000613	Photophobia
167691	LCA5	HP:0000622	Blurred vision
167691	LCA5	HP:0011342	Mild global developmental delay
167691	LCA5	HP:0000662	Nyctalopia
167691	LCA5	HP:0004374	Hemiplegia/hemiparesis
167691	LCA5	HP:0011488	Abnormal corneal endothelium morphology
167691	LCA5	HP:0011484	Posterior synechiae of the anterior chamber
167691	LCA5	HP:0012795	Abnormal optic disc morphology
167691	LCA5	HP:0007722	Retinal pigment epithelial atrophy
167691	LCA5	HP:0007703	Abnormality of retinal pigmentation
167691	LCA5	HP:0007793	Granular macular appearance
167691	LCA5	HP:0007787	Posterior subcapsular cataract
167691	LCA5	HP:0007737	Bone spicule pigmentation of the retina
167691	LCA5	HP:0007695	Abnormal pupillary light reflex
167691	LCA5	HP:0012230	Rhegmatogenous retinal detachment
167691	LCA5	HP:0007843	Attenuation of retinal blood vessels
167691	LCA5	HP:0007814	Retinal pigment epithelial mottling
167691	LCA5	HP:0000365	Hearing impairment
167691	LCA5	HP:0007994	Peripheral visual field loss
167691	LCA5	HP:0012434	Delayed social development
167691	LCA5	HP:0012426	Optic disc drusen
167691	LCA5	HP:0000518	Cataract
167691	LCA5	HP:0000512	Abnormal electroretinogram
167691	LCA5	HP:0000505	Visual impairment
167691	LCA5	HP:0000577	Exotropia
167691	LCA5	HP:0000563	Keratoconus
167691	LCA5	HP:0000572	Visual loss
167691	LCA5	HP:0000541	Retinal detachment
167691	LCA5	HP:0000540	Hypermetropia
167691	LCA5	HP:0000533	Chorioretinal atrophy
167691	LCA5	HP:0000550	Undetectable electroretinogram
167691	LCA5	HP:0000551	Color vision defect
167691	LCA5	HP:0000546	Retinal degeneration
167691	LCA5	HP:0000543	Optic disc pallor
167691	LCA5	HP:0000545	Myopia
168507	PKD1L1	HP:0012020	Right aortic arch
168507	PKD1L1	HP:0000007	Autosomal recessive inheritance
168507	PKD1L1	HP:0003363	Abdominal situs inversus
168507	PKD1L1	HP:0003577	Congenital onset
168507	PKD1L1	HP:0004935	Pulmonary artery atresia
168507	PKD1L1	HP:0031834	Aortopulmonary collateral arteries
168507	PKD1L1	HP:0004383	Hypoplastic left heart
168507	PKD1L1	HP:0011539	Atrial situs ambiguous
168507	PKD1L1	HP:0011538	Atrial situs inversus
168507	PKD1L1	HP:0011579	Unbalanced atrioventricular canal defect
168507	PKD1L1	HP:0011605	Congenitally corrected transposition of the great arteries with ventricular septal defect
168507	PKD1L1	HP:0001651	Dextrocardia
168507	PKD1L1	HP:0001629	Ventricular septal defect
168507	PKD1L1	HP:0001719	Double outlet right ventricle
168667	BMPER	HP:0002475	Myelomeningocele
168667	BMPER	HP:0008643	Nephroblastomatosis
168667	BMPER	HP:0010880	Increased nuchal translucency
168667	BMPER	HP:0001290	Generalized hypotonia
168667	BMPER	HP:0001252	Hypotonia
168667	BMPER	HP:0001263	Global developmental delay
168667	BMPER	HP:0100880	Nephrogenic rest
168667	BMPER	HP:0031096	Delayed vertebral ossification
168667	BMPER	HP:0000085	Horseshoe kidney
168667	BMPER	HP:0000023	Inguinal hernia
168667	BMPER	HP:0000007	Autosomal recessive inheritance
168667	BMPER	HP:0000175	Cleft palate
168667	BMPER	HP:0002779	Tracheomalacia
168667	BMPER	HP:0000105	Enlarged kidney
168667	BMPER	HP:0002089	Pulmonary hypoplasia
168667	BMPER	HP:0002098	Respiratory distress
168667	BMPER	HP:0002093	Respiratory insufficiency
168667	BMPER	HP:0002126	Polymicrogyria
168667	BMPER	HP:0003422	Vertebral segmentation defect
168667	BMPER	HP:0200133	Lumbosacral meningocele
168667	BMPER	HP:0100752	Abnormal liver lobulation
168667	BMPER	HP:0003521	Disproportionate short-trunk short stature
168667	BMPER	HP:0100625	Enlarged thorax
168667	BMPER	HP:0008435	Absent in utero ossification of vertebral bodies
168667	BMPER	HP:0005562	Multiple renal cysts
168667	BMPER	HP:0004331	Decreased skull ossification
168667	BMPER	HP:0005640	Abnormal vertebral segmentation and fusion
168667	BMPER	HP:0000800	Cystic renal dysplasia
168667	BMPER	HP:0034199	Late first trimester onset
168667	BMPER	HP:0034198	Second trimester onset
168667	BMPER	HP:0003196	Short nose
168667	BMPER	HP:0000921	Missing ribs
168667	BMPER	HP:0003275	Narrow pelvis bone
168667	BMPER	HP:0004599	Absent or minimally ossified vertebral bodies
168667	BMPER	HP:0010306	Short thorax
168667	BMPER	HP:0000286	Epicanthus
168667	BMPER	HP:0001591	Bell-shaped thorax
168667	BMPER	HP:0000239	Large fontanelles
168667	BMPER	HP:0001562	Oligohydramnios
168667	BMPER	HP:0001538	Protuberant abdomen
168667	BMPER	HP:0001511	Intrauterine growth retardation
168667	BMPER	HP:0005257	Thoracic hypoplasia
168667	BMPER	HP:0000369	Low-set ears
168667	BMPER	HP:0000347	Micrognathia
168667	BMPER	HP:0000316	Hypertelorism
168667	BMPER	HP:0006615	Absent in utero rib ossification
168667	BMPER	HP:0005280	Depressed nasal bridge
168667	BMPER	HP:0000457	Depressed nasal ridge
168667	BMPER	HP:0000470	Short neck
168667	BMPER	HP:0000465	Webbed neck
168667	BMPER	HP:0001765	Hammertoe
168667	BMPER	HP:0001762	Talipes equinovarus
168667	BMPER	HP:0025706	Absent fetal nasal bone
168667	BMPER	HP:0030290	Unossified sacrum
168667	BMPER	HP:0001804	Hypoplastic fingernail
169026	SLC30A8	HP:0000006	Autosomal dominant inheritance
169026	SLC30A8	HP:0005978	Type II diabetes mellitus
169026	SLC30A8	HP:0003584	Late onset
169026	SLC30A8	HP:0031819	Increased waist to hip ratio
169026	SLC30A8	HP:0000855	Insulin resistance
169522	KCNV2	HP:0007401	Macular atrophy
169522	KCNV2	HP:0000007	Autosomal recessive inheritance
169522	KCNV2	HP:0007663	Reduced visual acuity
169522	KCNV2	HP:0000613	Photophobia
169522	KCNV2	HP:0000662	Nyctalopia
169522	KCNV2	HP:0000666	Horizontal nystagmus
169522	KCNV2	HP:0000483	Astigmatism
169522	KCNV2	HP:0000486	Strabismus
169522	KCNV2	HP:0000575	Scotoma
169522	KCNV2	HP:0000548	Cone/cone-rod dystrophy
169522	KCNV2	HP:0000545	Myopia
169792	GLIS3	HP:0001256	Intellectual disability, mild
169792	GLIS3	HP:0002594	Pancreatic hypoplasia
169792	GLIS3	HP:0001263	Global developmental delay
169792	GLIS3	HP:0025379	Anti-thyroid peroxidase antibody positivity
169792	GLIS3	HP:0001396	Cholestasis
169792	GLIS3	HP:0001395	Hepatic fibrosis
169792	GLIS3	HP:0000007	Autosomal recessive inheritance
169792	GLIS3	HP:0025484	Increased circulating thyroglobulin level
169792	GLIS3	HP:0012115	Hepatitis
169792	GLIS3	HP:0000113	Polycystic kidney dysplasia
169792	GLIS3	HP:0000107	Renal cyst
169792	GLIS3	HP:0001409	Portal hypertension
169792	GLIS3	HP:0002719	Recurrent infections
169792	GLIS3	HP:0002036	Hiatus hernia
169792	GLIS3	HP:0002240	Hepatomegaly
169792	GLIS3	HP:0001087	Developmental glaucoma
169792	GLIS3	HP:0003623	Neonatal onset
169792	GLIS3	HP:0004442	Sagittal craniosynostosis
169792	GLIS3	HP:0000851	Congenital hypothyroidism
169792	GLIS3	HP:0000819	Diabetes mellitus
169792	GLIS3	HP:0000938	Osteopenia
169792	GLIS3	HP:0000286	Epicanthus
169792	GLIS3	HP:0000260	Wide anterior fontanel
169792	GLIS3	HP:0000219	Thin upper lip vermilion
169792	GLIS3	HP:0001537	Umbilical hernia
169792	GLIS3	HP:0001511	Intrauterine growth retardation
169792	GLIS3	HP:0031507	Decreased circulating T4 concentration
169792	GLIS3	HP:0002944	Thoracolumbar scoliosis
169792	GLIS3	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
169792	GLIS3	HP:0000369	Low-set ears
169792	GLIS3	HP:0000343	Long philtrum
169792	GLIS3	HP:0007906	Ocular hypertension
169792	GLIS3	HP:0000407	Sensorineural hearing impairment
169792	GLIS3	HP:0001737	Pancreatic cysts
169792	GLIS3	HP:0005280	Depressed nasal bridge
169792	GLIS3	HP:0000453	Choanal atresia
169792	GLIS3	HP:0001744	Splenomegaly
169792	GLIS3	HP:0030423	Splenic cyst
169792	GLIS3	HP:0000557	Buphthalmos
170302	ARX	HP:0001182	Tapered finger
170302	ARX	HP:0002451	Limb dystonia
170302	ARX	HP:0002445	Tetraplegia
170302	ARX	HP:0009921	Duane anomaly
170302	ARX	HP:0007256	Abnormal pyramidal sign
170302	ARX	HP:0010864	Intellectual disability, severe
170302	ARX	HP:0010851	EEG with burst suppression
170302	ARX	HP:0010850	EEG with spike-wave complexes
170302	ARX	HP:0002421	Poor head control
170302	ARX	HP:0001290	Generalized hypotonia
170302	ARX	HP:0001276	Hypertonia
170302	ARX	HP:0001272	Cerebellar atrophy
170302	ARX	HP:0001274	Agenesis of corpus callosum
170302	ARX	HP:0001288	Gait disturbance
170302	ARX	HP:0001285	Spastic tetraparesis
170302	ARX	HP:0001256	Intellectual disability, mild
170302	ARX	HP:0001250	Seizure
170302	ARX	HP:0001252	Hypotonia
170302	ARX	HP:0001249	Intellectual disability
170302	ARX	HP:0001266	Choreoathetosis
170302	ARX	HP:0001260	Dysarthria
170302	ARX	HP:0001263	Global developmental delay
170302	ARX	HP:0001257	Spasticity
170302	ARX	HP:0008734	Decreased testicular size
170302	ARX	HP:0008736	Hypoplasia of penis
170302	ARX	HP:0008715	Testicular dysgenesis
170302	ARX	HP:0007380	Facial telangiectasia
170302	ARX	HP:0007359	Focal-onset seizure
170302	ARX	HP:0008678	Renal hypoplasia/aplasia
170302	ARX	HP:0002521	Hypsarrhythmia
170302	ARX	HP:0002510	Spastic tetraplegia
170302	ARX	HP:0002506	Diffuse cerebral atrophy
170302	ARX	HP:0000062	Ambiguous genitalia
170302	ARX	HP:0025357	Erratic myoclonus
170302	ARX	HP:0000070	Ureterocele
170302	ARX	HP:0001371	Flexion contracture
170302	ARX	HP:0000054	Micropenis
170302	ARX	HP:0000053	Macroorchidism
170302	ARX	HP:0000047	Hypospadias
170302	ARX	HP:0000023	Inguinal hernia
170302	ARX	HP:0000020	Urinary incontinence
170302	ARX	HP:0001347	Hyperreflexia
170302	ARX	HP:0001357	Plagiocephaly
170302	ARX	HP:0000028	Cryptorchidism
170302	ARX	HP:0008872	Feeding difficulties in infancy
170302	ARX	HP:0001332	Dystonia
170302	ARX	HP:0001328	Specific learning disability
170302	ARX	HP:0001339	Lissencephaly
170302	ARX	HP:0001337	Tremor
170302	ARX	HP:0001336	Myoclonus
170302	ARX	HP:0001302	Pachygyria
170302	ARX	HP:0002650	Scoliosis
170302	ARX	HP:0001319	Neonatal hypotonia
170302	ARX	HP:0000187	Broad alveolar ridges
170302	ARX	HP:0000175	Cleft palate
170302	ARX	HP:0008947	Infantile muscular hypotonia
170302	ARX	HP:0008936	Axial hypotonia
170302	ARX	HP:0000110	Renal dysplasia
170302	ARX	HP:0001419	X-linked recessive inheritance
170302	ARX	HP:0001417	X-linked inheritance
170302	ARX	HP:0002024	Malabsorption
170302	ARX	HP:0002014	Diarrhea
170302	ARX	HP:0002015	Dysphagia
170302	ARX	HP:0002094	Dyspnea
170302	ARX	HP:0002069	Bilateral tonic-clonic seizure
170302	ARX	HP:0002063	Rigidity
170302	ARX	HP:0002061	Lower limb spasticity
170302	ARX	HP:0002079	Hypoplasia of the corpus callosum
170302	ARX	HP:0003487	Babinski sign
170302	ARX	HP:0002123	Generalized myoclonic seizure
170302	ARX	HP:0002120	Cerebral cortical atrophy
170302	ARX	HP:0002121	Generalized non-motor (absence) seizure
170302	ARX	HP:0002119	Ventriculomegaly
170302	ARX	HP:0002133	Status epilepticus
170302	ARX	HP:0002131	Episodic ataxia
170302	ARX	HP:0002188	Delayed CNS myelination
170302	ARX	HP:0002171	Gliosis
170302	ARX	HP:0003577	Congenital onset
170302	ARX	HP:0002251	Aganglionic megacolon
170302	ARX	HP:0100716	Self-injurious behavior
170302	ARX	HP:0003552	Muscle stiffness
170302	ARX	HP:0002230	Generalized hirsutism
170302	ARX	HP:0010720	Abnormal hair pattern
170302	ARX	HP:0200134	Epileptic encephalopathy
170302	ARX	HP:0002283	Global brain atrophy
170302	ARX	HP:0002360	Sleep disturbance
170302	ARX	HP:0002376	Developmental regression
170302	ARX	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
170302	ARX	HP:0002342	Intellectual disability, moderate
170302	ARX	HP:0001007	Hirsutism
170302	ARX	HP:0002353	EEG abnormality
170302	ARX	HP:0007204	Diffuse white matter abnormalities
170302	ARX	HP:0100660	Dyskinesia
170302	ARX	HP:0010819	Atonic seizure
170302	ARX	HP:0010818	Generalized tonic seizure
170302	ARX	HP:0001090	Abnormally large globe
170302	ARX	HP:0002301	Hemiplegia
170302	ARX	HP:0003623	Neonatal onset
170302	ARX	HP:0002307	Drooling
170302	ARX	HP:0006887	Intellectual disability, progressive
170302	ARX	HP:0000639	Nystagmus
170302	ARX	HP:0000637	Long palpebral fissure
170302	ARX	HP:0000648	Optic atrophy
170302	ARX	HP:0000629	Periorbital fullness
170302	ARX	HP:0011344	Severe global developmental delay
170302	ARX	HP:0011341	Long upper lip
170302	ARX	HP:0000664	Synophrys
170302	ARX	HP:0004322	Short stature
170302	ARX	HP:0004373	Focal dystonia
170302	ARX	HP:0000752	Hyperactivity
170302	ARX	HP:0012736	Profound global developmental delay
170302	ARX	HP:0000750	Delayed speech and language development
170302	ARX	HP:0000729	Autistic behavior
170302	ARX	HP:0000707	Abnormality of the nervous system
170302	ARX	HP:0010174	Broad phalanx of the toes
170302	ARX	HP:0003121	Limb joint contracture
170302	ARX	HP:0000826	Precocious puberty
170302	ARX	HP:0003272	Abnormal hip bone morphology
170302	ARX	HP:0000966	Hypohidrosis
170302	ARX	HP:0009381	Short finger
170302	ARX	HP:0000280	Coarse facial features
170302	ARX	HP:0000294	Low anterior hairline
170302	ARX	HP:0000260	Wide anterior fontanel
170302	ARX	HP:0000252	Microcephaly
170302	ARX	HP:0000219	Thin upper lip vermilion
170302	ARX	HP:0000218	High palate
170302	ARX	HP:0001522	Death in infancy
170302	ARX	HP:0001537	Umbilical hernia
170302	ARX	HP:0001508	Failure to thrive
170302	ARX	HP:0001500	Broad finger
170302	ARX	HP:0001510	Growth delay
170302	ARX	HP:0012385	Camptodactyly
170302	ARX	HP:0000369	Low-set ears
170302	ARX	HP:0000340	Sloping forehead
170302	ARX	HP:0000343	Long philtrum
170302	ARX	HP:0000336	Prominent supraorbital ridges
170302	ARX	HP:0032792	Tonic seizure
170302	ARX	HP:0000348	High forehead
170302	ARX	HP:0000347	Micrognathia
170302	ARX	HP:0001643	Patent ductus arteriosus
170302	ARX	HP:0000325	Triangular face
170302	ARX	HP:0001629	Ventricular septal defect
170302	ARX	HP:0011190	Uni- and bilateral multifocal epileptiform discharges
170302	ARX	HP:0011169	Generalized clonic seizure
170302	ARX	HP:0011153	Focal motor seizure
170302	ARX	HP:0001738	Exocrine pancreatic insufficiency
170302	ARX	HP:0000407	Sensorineural hearing impairment
170302	ARX	HP:0005280	Depressed nasal bridge
170302	ARX	HP:0000486	Strabismus
170302	ARX	HP:0012469	Infantile spasms
170302	ARX	HP:0001795	Hyperconvex nail
170302	ARX	HP:0000463	Anteverted nares
170302	ARX	HP:0012448	Delayed myelination
170302	ARX	HP:0011121	Abnormality of skin morphology
170302	ARX	HP:0001763	Pes planus
170302	ARX	HP:0000411	Protruding ear
170302	ARX	HP:0000431	Wide nasal bridge
170302	ARX	HP:0000426	Prominent nasal bridge
170302	ARX	HP:0001845	Overlapping toe
170302	ARX	HP:0000505	Visual impairment
170302	ARX	HP:0012554	Absent thumbnail
170302	ARX	HP:0011220	Prominent forehead
170302	ARX	HP:0000568	Microphthalmia
170691	ADAMTS17	HP:0001156	Brachydactyly
170691	ADAMTS17	HP:0001387	Joint stiffness
170691	ADAMTS17	HP:0000007	Autosomal recessive inheritance
170691	ADAMTS17	HP:0001083	Ectopia lentis
170691	ADAMTS17	HP:0100693	Iridodonesis
170691	ADAMTS17	HP:0012629	Phakodonesis
170691	ADAMTS17	HP:0004322	Short stature
170691	ADAMTS17	HP:0011484	Posterior synechiae of the anterior chamber
170691	ADAMTS17	HP:0011003	High myopia
170691	ADAMTS17	HP:0007906	Ocular hypertension
170691	ADAMTS17	HP:0000501	Glaucoma
170691	ADAMTS17	HP:0000594	Shallow anterior chamber
170692	ADAMTS18	HP:0000007	Autosomal recessive inheritance
170692	ADAMTS18	HP:0200065	Chorioretinal degeneration
170692	ADAMTS18	HP:0007787	Posterior subcapsular cataract
170692	ADAMTS18	HP:0000358	Posteriorly rotated ears
170692	ADAMTS18	HP:0000482	Microcornea
170692	ADAMTS18	HP:0000455	Broad nasal tip
170692	ADAMTS18	HP:0000445	Wide nose
170692	ADAMTS18	HP:0000506	Telecanthus
170692	ADAMTS18	HP:0000545	Myopia
170825	GSX2	HP:0002540	Inability to walk
170825	GSX2	HP:0002510	Spastic tetraplegia
170825	GSX2	HP:0008872	Feeding difficulties in infancy
170825	GSX2	HP:0001332	Dystonia
170825	GSX2	HP:0001344	Absent speech
170825	GSX2	HP:0000007	Autosomal recessive inheritance
170825	GSX2	HP:0040326	Hypoplasia of the olfactory bulb
170825	GSX2	HP:0002134	Abnormal basal ganglia morphology
170825	GSX2	HP:0003577	Congenital onset
170825	GSX2	HP:0012695	Decreased thalamic volume
170825	GSX2	HP:0011344	Severe global developmental delay
171019	ADAMTS19	HP:0025168	Left ventricular diastolic dysfunction
171019	ADAMTS19	HP:0000007	Autosomal recessive inheritance
171019	ADAMTS19	HP:0033755	Increased left ventricular end-diastolic volume
171019	ADAMTS19	HP:0010444	Pulmonary insufficiency
171019	ADAMTS19	HP:0003577	Congenital onset
171019	ADAMTS19	HP:0100749	Chest pain
171019	ADAMTS19	HP:0004970	Ascending tubular aorta aneurysm
171019	ADAMTS19	HP:0004927	Pulmonary artery dilatation
171019	ADAMTS19	HP:0034032	Central cyanosis
171019	ADAMTS19	HP:0001962	Palpitations
171019	ADAMTS19	HP:0011463	Childhood onset
171019	ADAMTS19	HP:0005176	Dysplastic aortic valve
171019	ADAMTS19	HP:0005180	Tricuspid regurgitation
171019	ADAMTS19	HP:0001682	Subvalvular aortic stenosis
171019	ADAMTS19	HP:0001647	Bicuspid aortic valve
171019	ADAMTS19	HP:0001642	Pulmonic stenosis
171019	ADAMTS19	HP:0030148	Heart murmur
171019	ADAMTS19	HP:0001659	Aortic regurgitation
171019	ADAMTS19	HP:0031664	Systolic heart murmur
171023	ASXL1	HP:0025142	Constitutional symptom
171023	ASXL1	HP:0001169	Broad palm
171023	ASXL1	HP:0001182	Tapered finger
171023	ASXL1	HP:0001159	Syndactyly
171023	ASXL1	HP:0001105	Retinal atrophy
171023	ASXL1	HP:0010864	Intellectual disability, severe
171023	ASXL1	HP:0001274	Agenesis of corpus callosum
171023	ASXL1	HP:0001279	Syncope
171023	ASXL1	HP:0001250	Seizure
171023	ASXL1	HP:0001252	Hypotonia
171023	ASXL1	HP:0001263	Global developmental delay
171023	ASXL1	HP:0002558	Supernumerary nipple
171023	ASXL1	HP:0002566	Intestinal malrotation
171023	ASXL1	HP:0100845	Anaphylactic shock
171023	ASXL1	HP:0100874	Thick hair
171023	ASXL1	HP:0006070	Metacarpophalangeal joint contracture
171023	ASXL1	HP:0002540	Inability to walk
171023	ASXL1	HP:0031020	Bone marrow hypercellularity
171023	ASXL1	HP:0000076	Vesicoureteral reflux
171023	ASXL1	HP:0001376	Limitation of joint mobility
171023	ASXL1	HP:0001371	Flexion contracture
171023	ASXL1	HP:0001373	Joint dislocation
171023	ASXL1	HP:0000016	Urinary retention
171023	ASXL1	HP:0008872	Feeding difficulties in infancy
171023	ASXL1	HP:0006191	Deep palmar crease
171023	ASXL1	HP:0002659	Increased susceptibility to fractures
171023	ASXL1	HP:0002667	Nephroblastoma
171023	ASXL1	HP:0002665	Lymphoma
171023	ASXL1	HP:0000006	Autosomal dominant inheritance
171023	ASXL1	HP:0001305	Dandy-Walker malformation
171023	ASXL1	HP:0002653	Bone pain
171023	ASXL1	HP:0002643	Neonatal respiratory distress
171023	ASXL1	HP:0002615	Hypotension
171023	ASXL1	HP:0000187	Broad alveolar ridges
171023	ASXL1	HP:0000189	Narrow palate
171023	ASXL1	HP:0000160	Narrow mouth
171023	ASXL1	HP:0000175	Cleft palate
171023	ASXL1	HP:0012138	Granulocytic hyperplasia
171023	ASXL1	HP:0002797	Osteolysis
171023	ASXL1	HP:0005026	Mesomelic/rhizomelic limb shortening
171023	ASXL1	HP:0410030	Cleft lip
171023	ASXL1	HP:0008936	Axial hypotonia
171023	ASXL1	HP:0031284	Flushing
171023	ASXL1	HP:0006276	Hyperechogenic pancreas
171023	ASXL1	HP:0001428	Somatic mutation
171023	ASXL1	HP:0002756	Pathologic fracture
171023	ASXL1	HP:0001433	Hepatosplenomegaly
171023	ASXL1	HP:0001410	Decreased liver function
171023	ASXL1	HP:0001409	Portal hypertension
171023	ASXL1	HP:0002719	Recurrent infections
171023	ASXL1	HP:0002716	Lymphadenopathy
171023	ASXL1	HP:0002024	Malabsorption
171023	ASXL1	HP:0002020	Gastroesophageal reflux
171023	ASXL1	HP:0002018	Nausea
171023	ASXL1	HP:0002027	Abdominal pain
171023	ASXL1	HP:0003326	Myalgia
171023	ASXL1	HP:0002014	Diarrhea
171023	ASXL1	HP:0002013	Vomiting
171023	ASXL1	HP:0002086	Abnormality of the respiratory system
171023	ASXL1	HP:0002079	Hypoplasia of the corpus callosum
171023	ASXL1	HP:0002039	Anorexia
171023	ASXL1	HP:0002119	Ventriculomegaly
171023	ASXL1	HP:0002104	Apnea
171023	ASXL1	HP:0002187	Intellectual disability, profound
171023	ASXL1	HP:0100494	Abnormal mast cell morphology
171023	ASXL1	HP:0011897	Neutrophilia
171023	ASXL1	HP:0003577	Congenital onset
171023	ASXL1	HP:0002240	Hepatomegaly
171023	ASXL1	HP:0002239	Gastrointestinal hemorrhage
171023	ASXL1	HP:0002205	Recurrent respiratory infections
171023	ASXL1	HP:0002282	Gray matter heterotopia
171023	ASXL1	HP:0011968	Feeding difficulties
171023	ASXL1	HP:0004808	Acute myeloid leukemia
171023	ASXL1	HP:0001052	Nevus flammeus
171023	ASXL1	HP:0002365	Hypoplasia of the brainstem
171023	ASXL1	HP:0002360	Sleep disturbance
171023	ASXL1	HP:0001007	Hirsutism
171023	ASXL1	HP:0001025	Urticaria
171023	ASXL1	HP:0002315	Headache
171023	ASXL1	HP:0001081	Cholelithiasis
171023	ASXL1	HP:0032155	Abdominal cramps
171023	ASXL1	HP:0010733	Naevus flammeus of the eyelid
171023	ASXL1	HP:0006863	Severe expressive language delay
171023	ASXL1	HP:0031807	Increased basophil count
171023	ASXL1	HP:0005550	Chronic lymphatic leukemia
171023	ASXL1	HP:0006895	Lower limb hypertonia
171023	ASXL1	HP:0005547	Myeloproliferative disorder
171023	ASXL1	HP:0001971	Hypersplenism
171023	ASXL1	HP:0000648	Optic atrophy
171023	ASXL1	HP:0001974	Leukocytosis
171023	ASXL1	HP:0001945	Fever
171023	ASXL1	HP:0001909	Leukemia
171023	ASXL1	HP:0001903	Anemia
171023	ASXL1	HP:0000664	Synophrys
171023	ASXL1	HP:0004322	Short stature
171023	ASXL1	HP:0003083	Dislocated radial head
171023	ASXL1	HP:0004398	Peptic ulcer
171023	ASXL1	HP:0031901	Elevated total serum tryptase
171023	ASXL1	HP:0003049	Ulnar deviation of the wrist
171023	ASXL1	HP:0004377	Hematological neoplasm
171023	ASXL1	HP:0011401	Delayed peripheral myelination
171023	ASXL1	HP:0000767	Pectus excavatum
171023	ASXL1	HP:0012758	Neurodevelopmental delay
171023	ASXL1	HP:0003155	Elevated circulating alkaline phosphatase concentration
171023	ASXL1	HP:0100337	Bilateral cleft palate
171023	ASXL1	HP:0100334	Unilateral cleft palate
171023	ASXL1	HP:0010291	Prominent palatine ridges
171023	ASXL1	HP:0040082	Happy demeanor
171023	ASXL1	HP:0000998	Hypertrichosis
171023	ASXL1	HP:0000980	Pallor
171023	ASXL1	HP:0000973	Cutis laxa
171023	ASXL1	HP:0000989	Pruritus
171023	ASXL1	HP:0000960	Sacral dimple
171023	ASXL1	HP:0000939	Osteoporosis
171023	ASXL1	HP:0008066	Abnormal blistering of the skin
171023	ASXL1	HP:0040186	Maculopapular exanthema
171023	ASXL1	HP:0000286	Epicanthus
171023	ASXL1	HP:0000278	Retrognathia
171023	ASXL1	HP:0000297	Facial hypotonia
171023	ASXL1	HP:0000293	Full cheeks
171023	ASXL1	HP:0000294	Low anterior hairline
171023	ASXL1	HP:0031408	Increased proportion of CD25+ mast cells
171023	ASXL1	HP:0000276	Long face
171023	ASXL1	HP:0006471	Fixed elbow flexion
171023	ASXL1	HP:0002829	Arthralgia
171023	ASXL1	HP:0002803	Congenital contracture
171023	ASXL1	HP:0000243	Trigonocephaly
171023	ASXL1	HP:0000252	Microcephaly
171023	ASXL1	HP:0001561	Polyhydramnios
171023	ASXL1	HP:0002885	Medulloblastoma
171023	ASXL1	HP:0001525	Severe failure to thrive
171023	ASXL1	HP:0002870	Obstructive sleep apnea
171023	ASXL1	HP:0001541	Ascites
171023	ASXL1	HP:0000204	Cleft upper lip
171023	ASXL1	HP:0002863	Myelodysplasia
171023	ASXL1	HP:0001508	Failure to thrive
171023	ASXL1	HP:0001511	Intrauterine growth retardation
171023	ASXL1	HP:0012378	Fatigue
171023	ASXL1	HP:0012385	Camptodactyly
171023	ASXL1	HP:0011034	Amyloidosis
171023	ASXL1	HP:0000358	Posteriorly rotated ears
171023	ASXL1	HP:0011003	High myopia
171023	ASXL1	HP:0000369	Low-set ears
171023	ASXL1	HP:0000368	Low-set, posteriorly rotated ears
171023	ASXL1	HP:0000341	Narrow forehead
171023	ASXL1	HP:0001671	Abnormal cardiac septum morphology
171023	ASXL1	HP:0012324	Myeloid leukemia
171023	ASXL1	HP:0012325	Chronic myelomonocytic leukemia
171023	ASXL1	HP:0000347	Micrognathia
171023	ASXL1	HP:0000316	Hypertelorism
171023	ASXL1	HP:0001649	Tachycardia
171023	ASXL1	HP:0001662	Bradycardia
171023	ASXL1	HP:0000329	Facial hemangioma
171023	ASXL1	HP:0001629	Ventricular septal defect
171023	ASXL1	HP:0001640	Cardiomegaly
171023	ASXL1	HP:0001631	Atrial septal defect
171023	ASXL1	HP:0006610	Wide intermamillary distance
171023	ASXL1	HP:0001734	Annular pancreas
171023	ASXL1	HP:0005280	Depressed nasal bridge
171023	ASXL1	HP:0000486	Strabismus
171023	ASXL1	HP:0000463	Anteverted nares
171023	ASXL1	HP:0012448	Delayed myelination
171023	ASXL1	HP:0012453	Bilateral wrist flexion contracture
171023	ASXL1	HP:0011121	Abnormality of skin morphology
171023	ASXL1	HP:0001744	Splenomegaly
171023	ASXL1	HP:0000431	Wide nasal bridge
171023	ASXL1	HP:0005487	Prominent metopic ridge
171023	ASXL1	HP:0006775	Multiple myeloma
171023	ASXL1	HP:0001845	Overlapping toe
171023	ASXL1	HP:0000520	Proptosis
171023	ASXL1	HP:0001824	Weight loss
171023	ASXL1	HP:0001831	Short toe
171023	ASXL1	HP:0000582	Upslanted palpebral fissure
171023	ASXL1	HP:0000587	Abnormal optic nerve morphology
171023	ASXL1	HP:0000589	Coloboma
171023	ASXL1	HP:0011220	Prominent forehead
171023	ASXL1	HP:0012537	Food intolerance
171023	ASXL1	HP:0001895	Normochromic anemia
171023	ASXL1	HP:0001897	Normocytic anemia
171023	ASXL1	HP:0001869	Deep plantar creases
171023	ASXL1	HP:0001880	Eosinophilia
171023	ASXL1	HP:0001873	Thrombocytopenia
171023	ASXL1	HP:0001876	Pancytopenia
171023	ASXL1	HP:0000545	Myopia
171023	ASXL1	HP:0001875	Neutropenia
171568	POLR3H	HP:0001166	Arachnodactyly
171568	POLR3H	HP:0009888	Abnormality of secondary sexual hair
171568	POLR3H	HP:0001251	Ataxia
171568	POLR3H	HP:0008684	Aplasia/hypoplasia of the uterus
171568	POLR3H	HP:0000062	Ambiguous genitalia
171568	POLR3H	HP:0000144	Decreased fertility
171568	POLR3H	HP:0000133	Gonadal dysgenesis
171568	POLR3H	HP:0002750	Delayed skeletal maturation
171568	POLR3H	HP:0010464	Streak ovary
171568	POLR3H	HP:0008209	Premature ovarian insufficiency
171568	POLR3H	HP:0008214	Decreased serum estradiol
171568	POLR3H	HP:0002225	Sparse pubic hair
171568	POLR3H	HP:0002206	Pulmonary fibrosis
171568	POLR3H	HP:0001939	Abnormality of metabolism/homeostasis
171568	POLR3H	HP:0004322	Short stature
171568	POLR3H	HP:0005625	Osteoporosis of vertebrae
171568	POLR3H	HP:0004349	Reduced bone mineral density
171568	POLR3H	HP:0000786	Primary amenorrhea
171568	POLR3H	HP:0000869	Secondary amenorrhea
171568	POLR3H	HP:0000837	Increased circulating gonadotropin level
171568	POLR3H	HP:0000823	Delayed puberty
171568	POLR3H	HP:0010311	Aplasia/Hypoplasia of the breasts
171568	POLR3H	HP:0000938	Osteopenia
171568	POLR3H	HP:0000252	Microcephaly
171568	POLR3H	HP:0000365	Hearing impairment
196385	DNAH10	HP:0000007	Autosomal recessive inheritance
196385	DNAH10	HP:0032558	Absent sperm flagella
196385	DNAH10	HP:0032559	Short sperm flagella
196385	DNAH10	HP:0032560	Coiled sperm flagella
196385	DNAH10	HP:0033393	Irregularly shaped sperm tail
196385	DNAH10	HP:0034011	Reduced progressive sperm motility
196385	DNAH10	HP:0000798	Oligospermia
196385	DNAH10	HP:0003251	Male infertility
196385	DNAH10	HP:0012207	Reduced sperm motility
196527	ANO6	HP:0000007	Autosomal recessive inheritance
196527	ANO6	HP:0008354	Factor X activation deficiency
196527	ANO6	HP:0001892	Abnormal bleeding
196528	ARID2	HP:0001156	Brachydactyly
196528	ARID2	HP:0009928	Thick nasal alae
196528	ARID2	HP:0010864	Intellectual disability, severe
196528	ARID2	HP:0009879	Simplified gyral pattern
196528	ARID2	HP:0001290	Generalized hypotonia
196528	ARID2	HP:0001274	Agenesis of corpus callosum
196528	ARID2	HP:0001270	Motor delay
196528	ARID2	HP:0001250	Seizure
196528	ARID2	HP:0001249	Intellectual disability
196528	ARID2	HP:0001263	Global developmental delay
196528	ARID2	HP:0000085	Horseshoe kidney
196528	ARID2	HP:0001388	Joint laxity
196528	ARID2	HP:0000047	Hypospadias
196528	ARID2	HP:0001357	Plagiocephaly
196528	ARID2	HP:0000028	Cryptorchidism
196528	ARID2	HP:0008897	Postnatal growth retardation
196528	ARID2	HP:0001344	Absent speech
196528	ARID2	HP:0000006	Autosomal dominant inheritance
196528	ARID2	HP:0001305	Dandy-Walker malformation
196528	ARID2	HP:0002650	Scoliosis
196528	ARID2	HP:0002645	Wormian bones
196528	ARID2	HP:0000179	Thick lower lip vermilion
196528	ARID2	HP:0000175	Cleft palate
196528	ARID2	HP:0000154	Wide mouth
196528	ARID2	HP:0008947	Infantile muscular hypotonia
196528	ARID2	HP:0002705	High, narrow palate
196528	ARID2	HP:0000119	Abnormality of the genitourinary system
196528	ARID2	HP:0002788	Recurrent upper respiratory tract infections
196528	ARID2	HP:0002751	Kyphoscoliosis
196528	ARID2	HP:0002750	Delayed skeletal maturation
196528	ARID2	HP:0002719	Recurrent infections
196528	ARID2	HP:0002020	Gastroesophageal reflux
196528	ARID2	HP:0002019	Constipation
196528	ARID2	HP:0002003	Large forehead
196528	ARID2	HP:0002002	Deep philtrum
196528	ARID2	HP:0002007	Frontal bossing
196528	ARID2	HP:0011937	Hypoplastic fifth toenail
196528	ARID2	HP:0003593	Infantile onset
196528	ARID2	HP:0100702	Arachnoid cyst
196528	ARID2	HP:0002209	Sparse scalp hair
196528	ARID2	HP:0100790	Hernia
196528	ARID2	HP:0007018	Attention deficit hyperactivity disorder
196528	ARID2	HP:0011968	Feeding difficulties
196528	ARID2	HP:0011951	Aspiration pneumonia
196528	ARID2	HP:0008398	Hypoplastic fifth fingernail
196528	ARID2	HP:0002342	Intellectual disability, moderate
196528	ARID2	HP:0001007	Hirsutism
196528	ARID2	HP:0000684	Delayed eruption of teeth
196528	ARID2	HP:0001999	Abnormal facial shape
196528	ARID2	HP:0004322	Short stature
196528	ARID2	HP:0006970	Periventricular leukomalacia
196528	ARID2	HP:0000752	Hyperactivity
196528	ARID2	HP:0000767	Pectus excavatum
196528	ARID2	HP:0100033	Tics
196528	ARID2	HP:0000739	Anxiety
196528	ARID2	HP:0000750	Delayed speech and language development
196528	ARID2	HP:0000718	Aggressive behavior
196528	ARID2	HP:0000729	Autistic behavior
196528	ARID2	HP:0000708	Atypical behavior
196528	ARID2	HP:0012758	Neurodevelopmental delay
196528	ARID2	HP:0009110	Diaphragmatic eventration
196528	ARID2	HP:0003196	Short nose
196528	ARID2	HP:0012810	Wide nasal base
196528	ARID2	HP:0009237	Short 5th finger
196528	ARID2	HP:0000998	Hypertrichosis
196528	ARID2	HP:0045025	Narrow palpebral fissure
196528	ARID2	HP:0000286	Epicanthus
196528	ARID2	HP:0000280	Coarse facial features
196528	ARID2	HP:0000278	Retrognathia
196528	ARID2	HP:0000294	Low anterior hairline
196528	ARID2	HP:0000289	Broad philtrum
196528	ARID2	HP:0030084	Clinodactyly
196528	ARID2	HP:0000252	Microcephaly
196528	ARID2	HP:0002884	Hepatoblastoma
196528	ARID2	HP:0000219	Thin upper lip vermilion
196528	ARID2	HP:0002895	Papillary thyroid carcinoma
196528	ARID2	HP:0001511	Intrauterine growth retardation
196528	ARID2	HP:0001510	Growth delay
196528	ARID2	HP:0000365	Hearing impairment
196528	ARID2	HP:0000358	Posteriorly rotated ears
196528	ARID2	HP:0000369	Low-set ears
196528	ARID2	HP:0000348	High forehead
196528	ARID2	HP:0000347	Micrognathia
196528	ARID2	HP:0001643	Patent ductus arteriosus
196528	ARID2	HP:0000322	Short philtrum
196528	ARID2	HP:0001629	Ventricular septal defect
196528	ARID2	HP:0001627	Abnormal heart morphology
196528	ARID2	HP:0001636	Tetralogy of Fallot
196528	ARID2	HP:0001631	Atrial septal defect
196528	ARID2	HP:0000405	Conductive hearing impairment
196528	ARID2	HP:0005280	Depressed nasal bridge
196528	ARID2	HP:0000486	Strabismus
196528	ARID2	HP:0000494	Downslanted palpebral fissures
196528	ARID2	HP:0001792	Small nail
196528	ARID2	HP:0000463	Anteverted nares
196528	ARID2	HP:0000455	Broad nasal tip
196528	ARID2	HP:0000508	Ptosis
196528	ARID2	HP:0000505	Visual impairment
196528	ARID2	HP:0011231	Prominent eyelashes
196528	ARID2	HP:0000574	Thick eyebrow
196528	ARID2	HP:0012523	Oral aversion
196528	ARID2	HP:0000545	Myopia
197131	UBR1	HP:0001153	Septate vagina
197131	UBR1	HP:0001290	Generalized hypotonia
197131	UBR1	HP:0001252	Hypotonia
197131	UBR1	HP:0001249	Intellectual disability
197131	UBR1	HP:0002557	Hypoplastic nipples
197131	UBR1	HP:0007430	Generalized edema
197131	UBR1	HP:0008736	Hypoplasia of penis
197131	UBR1	HP:0008716	Urethrovaginal fistula
197131	UBR1	HP:0007385	Aplasia cutis congenita of scalp
197131	UBR1	HP:0008665	Clitoral hypertrophy
197131	UBR1	HP:0003819	Death in childhood
197131	UBR1	HP:0001396	Cholestasis
197131	UBR1	HP:0001399	Hepatic failure
197131	UBR1	HP:0012050	Anasarca
197131	UBR1	HP:0000054	Micropenis
197131	UBR1	HP:0001388	Joint laxity
197131	UBR1	HP:0000047	Hypospadias
197131	UBR1	HP:0001362	Calvarial skull defect
197131	UBR1	HP:0000028	Cryptorchidism
197131	UBR1	HP:0000007	Autosomal recessive inheritance
197131	UBR1	HP:0002617	Vascular dilatation
197131	UBR1	HP:0000164	Abnormality of the dentition
197131	UBR1	HP:0000143	Rectovaginal fistula
197131	UBR1	HP:0000142	Abnormal vagina morphology
197131	UBR1	HP:0006349	Agenesis of permanent teeth
197131	UBR1	HP:0006334	Hypoplasia of the primary teeth
197131	UBR1	HP:0000126	Hydronephrosis
197131	UBR1	HP:0002750	Delayed skeletal maturation
197131	UBR1	HP:0002023	Anal atresia
197131	UBR1	HP:0002024	Malabsorption
197131	UBR1	HP:0003362	Increased VLDL cholesterol concentration
197131	UBR1	HP:0010460	Abnormality of the female genitalia
197131	UBR1	HP:0002236	Frontal upsweep of hair
197131	UBR1	HP:0002253	Colonic diverticula
197131	UBR1	HP:0002209	Sparse scalp hair
197131	UBR1	HP:0010720	Abnormal hair pattern
197131	UBR1	HP:0002286	Fair hair
197131	UBR1	HP:0001092	Absent lacrimal punctum
197131	UBR1	HP:0004209	Clinodactyly of the 5th finger
197131	UBR1	HP:0000632	Lacrimation abnormality
197131	UBR1	HP:0001903	Anemia
197131	UBR1	HP:0000684	Delayed eruption of teeth
197131	UBR1	HP:0000677	Oligodontia
197131	UBR1	HP:0000691	Microdontia
197131	UBR1	HP:0004322	Short stature
197131	UBR1	HP:0030680	Abnormality of cardiovascular system morphology
197131	UBR1	HP:0003075	Hypoproteinemia
197131	UBR1	HP:0003196	Short nose
197131	UBR1	HP:0000819	Diabetes mellitus
197131	UBR1	HP:0000821	Hypothyroidism
197131	UBR1	HP:0000957	Cafe-au-lait spot
197131	UBR1	HP:0000954	Single transverse palmar crease
197131	UBR1	HP:0000969	Edema
197131	UBR1	HP:0001597	Abnormality of the nail
197131	UBR1	HP:0001596	Alopecia
197131	UBR1	HP:0000252	Microcephaly
197131	UBR1	HP:0001545	Anteriorly placed anus
197131	UBR1	HP:0001522	Death in infancy
197131	UBR1	HP:0001508	Failure to thrive
197131	UBR1	HP:0001518	Small for gestational age
197131	UBR1	HP:0001511	Intrauterine growth retardation
197131	UBR1	HP:0002901	Hypocalcemia
197131	UBR1	HP:0001696	Situs inversus totalis
197131	UBR1	HP:0001671	Abnormal cardiac septum morphology
197131	UBR1	HP:0001651	Dextrocardia
197131	UBR1	HP:0001644	Dilated cardiomyopathy
197131	UBR1	HP:0001629	Ventricular septal defect
197131	UBR1	HP:0001631	Atrial septal defect
197131	UBR1	HP:0001738	Exocrine pancreatic insufficiency
197131	UBR1	HP:0000407	Sensorineural hearing impairment
197131	UBR1	HP:0001732	Abnormality of the pancreas
197131	UBR1	HP:0005288	Abnormal nostril morphology
197131	UBR1	HP:0000486	Strabismus
197131	UBR1	HP:0000444	Convex nasal ridge
197131	UBR1	HP:0000430	Underdeveloped nasal alae
197131	UBR1	HP:0005498	Midline skin dimples over anterior/posterior fontanelles
197135	PATL2	HP:0008669	Abnormal spermatogenesis
197135	PATL2	HP:0000007	Autosomal recessive inheritance
197135	PATL2	HP:0000147	Polycystic ovaries
197135	PATL2	HP:0008222	Female infertility
197135	PATL2	HP:0020155	Abnormal oocyte morphology
197135	PATL2	HP:0011462	Young adult onset
197135	PATL2	HP:0031515	Abnormal meiosis
197135	PATL2	HP:0031516	Oocyte arrest at metaphase I
197257	LDHD	HP:0001249	Intellectual disability
197257	LDHD	HP:0000023	Inguinal hernia
197257	LDHD	HP:0000007	Autosomal recessive inheritance
197257	LDHD	HP:0003648	Lacticaciduria
197257	LDHD	HP:0000252	Microcephaly
197257	LDHD	HP:0000494	Downslanted palpebral fissures
197257	LDHD	HP:0000526	Aniridia
197258	FCSK	HP:0010864	Intellectual disability, severe
197258	FCSK	HP:0001272	Cerebellar atrophy
197258	FCSK	HP:0001274	Agenesis of corpus callosum
197258	FCSK	HP:0001250	Seizure
197258	FCSK	HP:0001252	Hypotonia
197258	FCSK	HP:0001263	Global developmental delay
197258	FCSK	HP:0002540	Inability to walk
197258	FCSK	HP:0000007	Autosomal recessive inheritance
197258	FCSK	HP:0002020	Gastroesophageal reflux
197258	FCSK	HP:0002093	Respiratory insufficiency
197258	FCSK	HP:0030948	Elevated gamma-glutamyltransferase level
197258	FCSK	HP:0002188	Delayed CNS myelination
197258	FCSK	HP:0100704	Cerebral visual impairment
197258	FCSK	HP:0002205	Recurrent respiratory infections
197258	FCSK	HP:0200134	Epileptic encephalopathy
197258	FCSK	HP:0011968	Feeding difficulties
197258	FCSK	HP:0000639	Nystagmus
197258	FCSK	HP:0000648	Optic atrophy
197258	FCSK	HP:0006970	Periventricular leukomalacia
197258	FCSK	HP:0011463	Childhood onset
197258	FCSK	HP:0034392	Joint contracture
197258	FCSK	HP:0034353	Appendicular spasticity
197258	FCSK	HP:0001622	Premature birth
197258	FCSK	HP:0000486	Strabismus
197258	FCSK	HP:0000505	Visual impairment
197322	ACSF3	HP:0001298	Encephalopathy
197322	ACSF3	HP:0001250	Seizure
197322	ACSF3	HP:0001263	Global developmental delay
197322	ACSF3	HP:0031064	Impaired continence
197322	ACSF3	HP:0001332	Dystonia
197322	ACSF3	HP:0000007	Autosomal recessive inheritance
197322	ACSF3	HP:0012120	Methylmalonic aciduria
197322	ACSF3	HP:0008936	Axial hypotonia
197322	ACSF3	HP:0002014	Diarrhea
197322	ACSF3	HP:0002013	Vomiting
197322	ACSF3	HP:0002076	Migraine
197322	ACSF3	HP:0040288	Nasogastric tube feeding
197322	ACSF3	HP:0002254	Intermittent diarrhea
197322	ACSF3	HP:0002384	Focal impaired awareness seizure
197322	ACSF3	HP:0002354	Memory impairment
197322	ACSF3	HP:0001944	Dehydration
197322	ACSF3	HP:0001943	Hypoglycemia
197322	ACSF3	HP:0001941	Acidosis
197322	ACSF3	HP:0001993	Ketoacidosis
197322	ACSF3	HP:0000750	Delayed speech and language development
197322	ACSF3	HP:0000708	Atypical behavior
197322	ACSF3	HP:0003215	Dicarboxylic aciduria
197322	ACSF3	HP:0040145	Dicarboxylic acidemia
197322	ACSF3	HP:0000252	Microcephaly
197322	ACSF3	HP:0001508	Failure to thrive
197322	ACSF3	HP:0002912	Methylmalonic acidemia
197322	ACSF3	HP:0002910	Elevated hepatic transaminase
197322	ACSF3	HP:0011169	Generalized clonic seizure
199221	DZIP1L	HP:0003774	Stage 5 chronic kidney disease
199221	DZIP1L	HP:0000083	Renal insufficiency
199221	DZIP1L	HP:0001396	Cholestasis
199221	DZIP1L	HP:0001395	Hepatic fibrosis
199221	DZIP1L	HP:0000010	Recurrent urinary tract infections
199221	DZIP1L	HP:0000007	Autosomal recessive inheritance
199221	DZIP1L	HP:0002612	Congenital hepatic fibrosis
199221	DZIP1L	HP:0002630	Fat malabsorption
199221	DZIP1L	HP:0000113	Polycystic kidney dysplasia
199221	DZIP1L	HP:0002791	Hypoventilation
199221	DZIP1L	HP:0001433	Hepatosplenomegaly
199221	DZIP1L	HP:0000105	Enlarged kidney
199221	DZIP1L	HP:0001409	Portal hypertension
199221	DZIP1L	HP:0001405	Periportal fibrosis
199221	DZIP1L	HP:0002089	Pulmonary hypoplasia
199221	DZIP1L	HP:0100543	Cognitive impairment
199221	DZIP1L	HP:0030948	Elevated gamma-glutamyltransferase level
199221	DZIP1L	HP:0002040	Esophageal varix
199221	DZIP1L	HP:0100520	Oliguria
199221	DZIP1L	HP:0100512	Low levels of vitamin D
199221	DZIP1L	HP:0100513	Low levels of vitamin E
199221	DZIP1L	HP:0002108	Spontaneous pneumothorax
199221	DZIP1L	HP:0011892	Low levels of vitamin K
199221	DZIP1L	HP:0004719	Hyperechogenic kidneys
199221	DZIP1L	HP:0003593	Infantile onset
199221	DZIP1L	HP:0002243	Protein-losing enteropathy
199221	DZIP1L	HP:0002239	Gastrointestinal hemorrhage
199221	DZIP1L	HP:0011968	Feeding difficulties
199221	DZIP1L	HP:0003677	Slowly progressive
199221	DZIP1L	HP:0003621	Juvenile onset
199221	DZIP1L	HP:0004905	Low levels of vitamin A
199221	DZIP1L	HP:0005565	Reduced renal corticomedullary differentiation
199221	DZIP1L	HP:0001971	Hypersplenism
199221	DZIP1L	HP:0001959	Polydipsia
199221	DZIP1L	HP:0001919	Acute kidney injury
199221	DZIP1L	HP:0011463	Childhood onset
199221	DZIP1L	HP:0000822	Hypertension
199221	DZIP1L	HP:0040064	Abnormality of limbs
199221	DZIP1L	HP:0000952	Jaundice
199221	DZIP1L	HP:0002884	Hepatoblastoma
199221	DZIP1L	HP:0012202	Increased serum bile acid concentration
199221	DZIP1L	HP:0002878	Respiratory failure
199221	DZIP1L	HP:0001562	Oligohydramnios
199221	DZIP1L	HP:0001541	Ascites
199221	DZIP1L	HP:0001510	Growth delay
199221	DZIP1L	HP:0011040	Abnormal intrahepatic bile duct morphology
199221	DZIP1L	HP:0006560	Biliary hyperplasia
199221	DZIP1L	HP:0006532	Recurrent pneumonia
199221	DZIP1L	HP:0002902	Hyponatremia
199221	DZIP1L	HP:0000369	Low-set ears
199221	DZIP1L	HP:0000347	Micrognathia
199221	DZIP1L	HP:0030153	Cholangiocarcinoma
199221	DZIP1L	HP:0030151	Cholangitis
199221	DZIP1L	HP:0001737	Pancreatic cysts
199221	DZIP1L	HP:0000457	Depressed nasal ridge
199221	DZIP1L	HP:0001744	Splenomegaly
199221	DZIP1L	HP:0001873	Thrombocytopenia
199223	TTC21A	HP:0000007	Autosomal recessive inheritance
199223	TTC21A	HP:0032558	Absent sperm flagella
199223	TTC21A	HP:0032559	Short sperm flagella
199223	TTC21A	HP:0032560	Coiled sperm flagella
199223	TTC21A	HP:0033393	Irregularly shaped sperm tail
199223	TTC21A	HP:0011462	Young adult onset
199223	TTC21A	HP:0003251	Male infertility
199223	TTC21A	HP:0012207	Reduced sperm motility
199713	NLRP7	HP:0000007	Autosomal recessive inheritance
199713	NLRP7	HP:0032192	Hydatidiform mole
199713	NLRP7	HP:0011462	Young adult onset
199713	NLRP7	HP:0005268	Miscarriage
199720	GGN	HP:0000007	Autosomal recessive inheritance
199720	GGN	HP:0011462	Young adult onset
199720	GGN	HP:0003251	Male infertility
199720	GGN	HP:0012205	Globozoospermia
199857	ALG14	HP:0001166	Arachnodactyly
199857	ALG14	HP:0002460	Distal muscle weakness
199857	ALG14	HP:0010864	Intellectual disability, severe
199857	ALG14	HP:0010851	EEG with burst suppression
199857	ALG14	HP:0002421	Poor head control
199857	ALG14	HP:0003701	Proximal muscle weakness
199857	ALG14	HP:0001290	Generalized hypotonia
199857	ALG14	HP:0001270	Motor delay
199857	ALG14	HP:0001284	Areflexia
199857	ALG14	HP:0001250	Seizure
199857	ALG14	HP:0001263	Global developmental delay
199857	ALG14	HP:0002521	Hypsarrhythmia
199857	ALG14	HP:0002515	Waddling gait
199857	ALG14	HP:0003803	Type 1 muscle fiber predominance
199857	ALG14	HP:0001371	Flexion contracture
199857	ALG14	HP:0001388	Joint laxity
199857	ALG14	HP:0008872	Feeding difficulties in infancy
199857	ALG14	HP:0001344	Absent speech
199857	ALG14	HP:0000007	Autosomal recessive inheritance
199857	ALG14	HP:0002650	Scoliosis
199857	ALG14	HP:0002643	Neonatal respiratory distress
199857	ALG14	HP:0003325	Limb-girdle muscle weakness
199857	ALG14	HP:0011807	Type 1 muscle fiber atrophy
199857	ALG14	HP:0003394	Muscle spasm
199857	ALG14	HP:0003391	Gowers sign
199857	ALG14	HP:0002059	Cerebral atrophy
199857	ALG14	HP:0003388	Easy fatigability
199857	ALG14	HP:0003473	Fatigable weakness
199857	ALG14	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
199857	ALG14	HP:0010602	Type 2 muscle fiber predominance
199857	ALG14	HP:0002188	Delayed CNS myelination
199857	ALG14	HP:0010516	Thymus hyperplasia
199857	ALG14	HP:0003593	Infantile onset
199857	ALG14	HP:0100716	Self-injurious behavior
199857	ALG14	HP:0003554	Type 2 muscle fiber atrophy
199857	ALG14	HP:0003551	Difficulty climbing stairs
199857	ALG14	HP:0010628	Facial palsy
199857	ALG14	HP:0003691	Scapular winging
199857	ALG14	HP:0002359	Frequent falls
199857	ALG14	HP:0002355	Difficulty walking
199857	ALG14	HP:0003677	Slowly progressive
199857	ALG14	HP:0006829	Severe muscular hypotonia
199857	ALG14	HP:0009046	Difficulty running
199857	ALG14	HP:0009028	Generalized weakness of limb muscles
199857	ALG14	HP:0000752	Hyperactivity
199857	ALG14	HP:0000739	Anxiety
199857	ALG14	HP:0000718	Aggressive behavior
199857	ALG14	HP:0000717	Autism
199857	ALG14	HP:0030799	Scaphocephaly
199857	ALG14	HP:0003198	Myopathy
199857	ALG14	HP:0100301	Muscle fiber tubular inclusions
199857	ALG14	HP:0003236	Elevated circulating creatine kinase concentration
199857	ALG14	HP:0003200	Ragged-red muscle fibers
199857	ALG14	HP:0010310	Chylothorax
199857	ALG14	HP:0000280	Coarse facial features
199857	ALG14	HP:0000262	Turricephaly
199857	ALG14	HP:0002828	Multiple joint contractures
199857	ALG14	HP:0002803	Congenital contracture
199857	ALG14	HP:0006380	Knee flexion contracture
199857	ALG14	HP:0000218	High palate
199857	ALG14	HP:0001561	Polyhydramnios
199857	ALG14	HP:0001558	Decreased fetal movement
199857	ALG14	HP:0001522	Death in infancy
199857	ALG14	HP:0030205	Increased jitter at single fiber EMG
199857	ALG14	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors
199857	ALG14	HP:0030208	Anti-acetylcholine receptor antibody positivity
199857	ALG14	HP:0002938	Lumbar hyperlordosis
199857	ALG14	HP:0030191	Abnormal peripheral nervous system synaptic transmission
199857	ALG14	HP:0000347	Micrognathia
199857	ALG14	HP:0000303	Mandibular prognathia
199857	ALG14	HP:0006610	Wide intermamillary distance
199857	ALG14	HP:0012469	Infantile spasms
199857	ALG14	HP:0001763	Pes planus
199857	ALG14	HP:0001762	Talipes equinovarus
199857	ALG14	HP:0000508	Ptosis
199857	ALG14	HP:0000581	Blepharophimosis
200162	SPAG17	HP:0000007	Autosomal recessive inheritance
200162	SPAG17	HP:0011462	Young adult onset
200162	SPAG17	HP:0003251	Male infertility
200162	SPAG17	HP:0012207	Reduced sperm motility
200205	IBA57	HP:0002490	Increased CSF lactate
200205	IBA57	HP:0001123	Visual field defect
200205	IBA57	HP:0002415	Leukodystrophy
200205	IBA57	HP:0001298	Encephalopathy
200205	IBA57	HP:0001272	Cerebellar atrophy
200205	IBA57	HP:0001284	Areflexia
200205	IBA57	HP:0001250	Seizure
200205	IBA57	HP:0001252	Hypotonia
200205	IBA57	HP:0001258	Spastic paraplegia
200205	IBA57	HP:0002510	Spastic tetraplegia
200205	IBA57	HP:0500230	Increased CSF glycine concentration
200205	IBA57	HP:0001347	Hyperreflexia
200205	IBA57	HP:0032480	Beta-aminoisobutyric aciduria
200205	IBA57	HP:0000007	Autosomal recessive inheritance
200205	IBA57	HP:0003324	Generalized muscle weakness
200205	IBA57	HP:0100543	Cognitive impairment
200205	IBA57	HP:0002093	Respiratory insufficiency
200205	IBA57	HP:0002079	Hypoplasia of the corpus callosum
200205	IBA57	HP:0002059	Cerebral atrophy
200205	IBA57	HP:0003477	Peripheral axonal neuropathy
200205	IBA57	HP:0003487	Babinski sign
200205	IBA57	HP:0002154	Hyperglycinemia
200205	IBA57	HP:0002119	Ventriculomegaly
200205	IBA57	HP:0002126	Polymicrogyria
200205	IBA57	HP:0003445	EMG: neuropathic changes
200205	IBA57	HP:0011923	Decreased activity of mitochondrial complex I
200205	IBA57	HP:0003577	Congenital onset
200205	IBA57	HP:0007020	Progressive spastic paraplegia
200205	IBA57	HP:0011968	Feeding difficulties
200205	IBA57	HP:0008314	Decreased activity of mitochondrial complex II
200205	IBA57	HP:0007083	Hyperactive patellar reflex
200205	IBA57	HP:0007067	Distal peripheral sensory neuropathy
200205	IBA57	HP:0003693	Distal amyotrophy
200205	IBA57	HP:0002376	Developmental regression
200205	IBA57	HP:0003676	Progressive
200205	IBA57	HP:0002355	Difficulty walking
200205	IBA57	HP:0003677	Slowly progressive
200205	IBA57	HP:0003621	Juvenile onset
200205	IBA57	HP:0006829	Severe muscular hypotonia
200205	IBA57	HP:0009072	Decreased Achilles reflex
200205	IBA57	HP:0000639	Nystagmus
200205	IBA57	HP:0000648	Optic atrophy
200205	IBA57	HP:0001942	Metabolic acidosis
200205	IBA57	HP:0001954	Recurrent fever
200205	IBA57	HP:0009053	Distal lower limb muscle weakness
200205	IBA57	HP:0000737	Irritability
200205	IBA57	HP:0012706	Elevated brain choline level by MRS
200205	IBA57	HP:0012762	Cerebral white matter atrophy
200205	IBA57	HP:0003128	Lactic acidosis
200205	IBA57	HP:0000278	Retrognathia
200205	IBA57	HP:0002804	Arthrogryposis multiplex congenita
200205	IBA57	HP:0000252	Microcephaly
200205	IBA57	HP:0032653	Elevated lactate:pyruvate ratio
200205	IBA57	HP:0002878	Respiratory failure
200205	IBA57	HP:0000218	High palate
200205	IBA57	HP:0001561	Polyhydramnios
200205	IBA57	HP:0001511	Intrauterine growth retardation
200205	IBA57	HP:0002936	Distal sensory impairment
200205	IBA57	HP:0006610	Wide intermamillary distance
200205	IBA57	HP:0001761	Pes cavus
200205	IBA57	HP:0000505	Visual impairment
200373	CFAP221	HP:0025177	Peribronchovascular interstitial thickening
200373	CFAP221	HP:0002566	Intestinal malrotation
200373	CFAP221	HP:0001217	Clubbing
200373	CFAP221	HP:0002643	Neonatal respiratory distress
200373	CFAP221	HP:0000119	Abnormality of the genitourinary system
200373	CFAP221	HP:0032543	Lithoptysis
200373	CFAP221	HP:0031245	Productive cough
200373	CFAP221	HP:0002011	Morphological central nervous system abnormality
200373	CFAP221	HP:0100582	Nasal polyposis
200373	CFAP221	HP:0002119	Ventriculomegaly
200373	CFAP221	HP:0002110	Bronchiectasis
200373	CFAP221	HP:0008222	Female infertility
200373	CFAP221	HP:0002257	Chronic rhinitis
200373	CFAP221	HP:0100750	Atelectasis
200373	CFAP221	HP:0032016	Abnormal sputum
200373	CFAP221	HP:0011947	Respiratory tract infection
200373	CFAP221	HP:0010772	Anomalous pulmonary venous return
200373	CFAP221	HP:0030680	Abnormality of cardiovascular system morphology
200373	CFAP221	HP:0000750	Delayed speech and language development
200373	CFAP221	HP:0000924	Abnormality of the skeletal system
200373	CFAP221	HP:0011539	Atrial situs ambiguous
200373	CFAP221	HP:0011535	Abnormal atrial arrangement
200373	CFAP221	HP:0030828	Wheezing
200373	CFAP221	HP:0003251	Male infertility
200373	CFAP221	HP:0011617	Pulmonary situs ambiguus
200373	CFAP221	HP:0025576	Abnormal inferior vena cava morphology
200373	CFAP221	HP:0000238	Hydrocephalus
200373	CFAP221	HP:0012206	Abnormal sperm motility
200373	CFAP221	HP:0002878	Respiratory failure
200373	CFAP221	HP:0000389	Chronic otitis media
200373	CFAP221	HP:0006536	Airway obstruction
200373	CFAP221	HP:0001696	Situs inversus totalis
200373	CFAP221	HP:0000365	Hearing impairment
200373	CFAP221	HP:0001669	Transposition of the great arteries
200373	CFAP221	HP:0031456	Ectopic pregnancy
200373	CFAP221	HP:0001627	Abnormal heart morphology
200373	CFAP221	HP:0005301	Persistent left superior vena cava
200373	CFAP221	HP:0000403	Recurrent otitis media
200373	CFAP221	HP:0000405	Conductive hearing impairment
200373	CFAP221	HP:0001719	Double outlet right ventricle
200373	CFAP221	HP:0011109	Chronic sinusitis
200373	CFAP221	HP:0001746	Asplenia
200373	CFAP221	HP:0001748	Polysplenia
200373	CFAP221	HP:0001742	Nasal congestion
200373	CFAP221	HP:0005425	Recurrent sinopulmonary infections
200373	CFAP221	HP:0011274	Recurrent mycobacterial infections
200373	CFAP221	HP:0000510	Rod-cone dystrophy
200403	VWA3B	HP:0007256	Abnormal pyramidal sign
200403	VWA3B	HP:0001272	Cerebellar atrophy
200403	VWA3B	HP:0001251	Ataxia
200403	VWA3B	HP:0001249	Intellectual disability
200403	VWA3B	HP:0001260	Dysarthria
200403	VWA3B	HP:0001347	Hyperreflexia
200403	VWA3B	HP:0000007	Autosomal recessive inheritance
200403	VWA3B	HP:0001310	Dysmetria
200403	VWA3B	HP:0002080	Intention tremor
200403	VWA3B	HP:0002061	Lower limb spasticity
200403	VWA3B	HP:0002078	Truncal ataxia
200403	VWA3B	HP:0002079	Hypoplasia of the corpus callosum
200403	VWA3B	HP:0003677	Slowly progressive
200403	VWA3B	HP:0002317	Unsteady gait
200403	VWA3B	HP:0000639	Nystagmus
200424	TET3	HP:0010862	Delayed fine motor development
200424	TET3	HP:0001290	Generalized hypotonia
200424	TET3	HP:0001250	Seizure
200424	TET3	HP:0001249	Intellectual disability
200424	TET3	HP:0001263	Global developmental delay
200424	TET3	HP:0001385	Hip dysplasia
200424	TET3	HP:0001382	Joint hypermobility
200424	TET3	HP:0008872	Feeding difficulties in infancy
200424	TET3	HP:0000007	Autosomal recessive inheritance
200424	TET3	HP:0000006	Autosomal dominant inheritance
200424	TET3	HP:0000194	Open mouth
200424	TET3	HP:0007678	Lacrimal duct stenosis
200424	TET3	HP:0002119	Ventriculomegaly
200424	TET3	HP:0002194	Delayed gross motor development
200424	TET3	HP:0007018	Attention deficit hyperactivity disorder
200424	TET3	HP:0002353	EEG abnormality
200424	TET3	HP:0000639	Nystagmus
200424	TET3	HP:0006970	Periventricular leukomalacia
200424	TET3	HP:0005616	Accelerated skeletal maturation
200424	TET3	HP:0000739	Anxiety
200424	TET3	HP:0000735	Impaired social interactions
200424	TET3	HP:0000750	Delayed speech and language development
200424	TET3	HP:0000716	Depression
200424	TET3	HP:0000729	Autistic behavior
200424	TET3	HP:0000297	Facial hypotonia
200424	TET3	HP:0000256	Macrocephaly
200424	TET3	HP:0000276	Long face
200424	TET3	HP:0000252	Microcephaly
200424	TET3	HP:0000248	Brachycephaly
200424	TET3	HP:0000218	High palate
200424	TET3	HP:0000343	Long philtrum
200424	TET3	HP:0000337	Broad forehead
200424	TET3	HP:0000348	High forehead
200424	TET3	HP:0001629	Ventricular septal defect
200424	TET3	HP:0001640	Cardiomegaly
200424	TET3	HP:0000486	Strabismus
200424	TET3	HP:0001763	Pes planus
200424	TET3	HP:0000411	Protruding ear
200424	TET3	HP:0000508	Ptosis
200424	TET3	HP:0012510	Extra-axial cerebrospinal fluid accumulation
200576	PIKFYVE	HP:0000006	Autosomal dominant inheritance
200576	PIKFYVE	HP:0000613	Photophobia
200576	PIKFYVE	HP:0007962	Speckled corneal dystrophy
200734	SPRED2	HP:0001156	Brachydactyly
200734	SPRED2	HP:0001256	Intellectual disability, mild
200734	SPRED2	HP:0001252	Hypotonia
200734	SPRED2	HP:0001260	Dysarthria
200734	SPRED2	HP:0001263	Global developmental delay
200734	SPRED2	HP:0000078	Abnormality of the genital system
200734	SPRED2	HP:0000044	Hypogonadotropic hypogonadism
200734	SPRED2	HP:0001377	Limited elbow extension
200734	SPRED2	HP:0000028	Cryptorchidism
200734	SPRED2	HP:0008872	Feeding difficulties in infancy
200734	SPRED2	HP:0006191	Deep palmar crease
200734	SPRED2	HP:0007477	Abnormal dermatoglyphics
200734	SPRED2	HP:0001324	Muscle weakness
200734	SPRED2	HP:0000007	Autosomal recessive inheritance
200734	SPRED2	HP:0002650	Scoliosis
200734	SPRED2	HP:0000179	Thick lower lip vermilion
200734	SPRED2	HP:0000154	Wide mouth
200734	SPRED2	HP:0007678	Lacrimal duct stenosis
200734	SPRED2	HP:0002705	High, narrow palate
200734	SPRED2	HP:0002750	Delayed skeletal maturation
200734	SPRED2	HP:0011800	Midface retrusion
200734	SPRED2	HP:0002167	Abnormality of speech or vocalization
200734	SPRED2	HP:0002162	Low posterior hairline
200734	SPRED2	HP:0011869	Abnormal platelet function
200734	SPRED2	HP:0003593	Infantile onset
200734	SPRED2	HP:0003577	Congenital onset
200734	SPRED2	HP:0002240	Hepatomegaly
200734	SPRED2	HP:0002212	Curly hair
200734	SPRED2	HP:0002208	Coarse hair
200734	SPRED2	HP:0100763	Abnormality of the lymphatic system
200734	SPRED2	HP:0003691	Scapular winging
200734	SPRED2	HP:0001004	Lymphedema
200734	SPRED2	HP:0100625	Enlarged thorax
200734	SPRED2	HP:0004209	Clinodactyly of the 5th finger
200734	SPRED2	HP:0000639	Nystagmus
200734	SPRED2	HP:0001928	Abnormality of coagulation
200734	SPRED2	HP:0011381	Aplasia of the semicircular canal
200734	SPRED2	HP:0011362	Abnormal hair quantity
200734	SPRED2	HP:0004322	Short stature
200734	SPRED2	HP:0006956	Lateral ventricle dilatation
200734	SPRED2	HP:0030680	Abnormality of cardiovascular system morphology
200734	SPRED2	HP:0005692	Joint hyperflexibility
200734	SPRED2	HP:0000767	Pectus excavatum
200734	SPRED2	HP:0000768	Pectus carinatum
200734	SPRED2	HP:0004415	Pulmonary artery stenosis
200734	SPRED2	HP:0045075	Sparse eyebrow
200734	SPRED2	HP:0000995	Melanocytic nevus
200734	SPRED2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
200734	SPRED2	HP:0000975	Hyperhidrosis
200734	SPRED2	HP:0000978	Bruising susceptibility
200734	SPRED2	HP:0000958	Dry skin
200734	SPRED2	HP:0008081	Pes valgus
200734	SPRED2	HP:0008070	Sparse hair
200734	SPRED2	HP:0011675	Arrhythmia
200734	SPRED2	HP:0000286	Epicanthus
200734	SPRED2	HP:0000280	Coarse facial features
200734	SPRED2	HP:0030084	Clinodactyly
200734	SPRED2	HP:0002808	Kyphosis
200734	SPRED2	HP:0000218	High palate
200734	SPRED2	HP:0001561	Polyhydramnios
200734	SPRED2	HP:0000391	Thickened helices
200734	SPRED2	HP:0000358	Posteriorly rotated ears
200734	SPRED2	HP:0000369	Low-set ears
200734	SPRED2	HP:0000368	Low-set, posteriorly rotated ears
200734	SPRED2	HP:0000341	Narrow forehead
200734	SPRED2	HP:0000343	Long philtrum
200734	SPRED2	HP:0000348	High forehead
200734	SPRED2	HP:0000347	Micrognathia
200734	SPRED2	HP:0000316	Hypertelorism
200734	SPRED2	HP:0001642	Pulmonic stenosis
200734	SPRED2	HP:0002974	Radioulnar synostosis
200734	SPRED2	HP:0001659	Aortic regurgitation
200734	SPRED2	HP:0000325	Triangular face
200734	SPRED2	HP:0001641	Abnormal pulmonary valve morphology
200734	SPRED2	HP:0001639	Hypertrophic cardiomyopathy
200734	SPRED2	HP:0000307	Pointed chin
200734	SPRED2	HP:0002967	Cubitus valgus
200734	SPRED2	HP:0001634	Mitral valve prolapse
200734	SPRED2	HP:0006610	Wide intermamillary distance
200734	SPRED2	HP:0000407	Sensorineural hearing impairment
200734	SPRED2	HP:0005272	Prominent nasolabial fold
200734	SPRED2	HP:0000486	Strabismus
200734	SPRED2	HP:0012471	Thick vermilion border
200734	SPRED2	HP:0000476	Cystic hygroma
200734	SPRED2	HP:0000494	Downslanted palpebral fissures
200734	SPRED2	HP:0000474	Thickened nuchal skin fold
200734	SPRED2	HP:0000470	Short neck
200734	SPRED2	HP:0000465	Webbed neck
200734	SPRED2	HP:0001763	Pes planus
200734	SPRED2	HP:0001743	Abnormality of the spleen
200734	SPRED2	HP:0000426	Prominent nasal bridge
200734	SPRED2	HP:0000520	Proptosis
200734	SPRED2	HP:0000508	Ptosis
200734	SPRED2	HP:0001892	Abnormal bleeding
200734	SPRED2	HP:0001888	Lymphopenia
200879	LIPH	HP:0025249	Comedo
200879	LIPH	HP:0000007	Autosomal recessive inheritance
200879	LIPH	HP:0000164	Abnormality of the dentition
200879	LIPH	HP:0003577	Congenital onset
200879	LIPH	HP:0002224	Woolly hair
200879	LIPH	HP:0002217	Slow-growing hair
200879	LIPH	HP:0002215	Sparse axillary hair
200879	LIPH	HP:0002231	Sparse body hair
200879	LIPH	HP:0002213	Fine hair
200879	LIPH	HP:0002209	Sparse scalp hair
200879	LIPH	HP:0010719	Abnormality of hair texture
200879	LIPH	HP:0002299	Brittle hair
200879	LIPH	HP:0005599	Hypopigmentation of hair
200879	LIPH	HP:0000615	Abnormal pupil morphology
200879	LIPH	HP:0000653	Sparse eyelashes
200879	LIPH	HP:0045075	Sparse eyebrow
200879	LIPH	HP:0000971	Abnormal sweat gland morphology
200879	LIPH	HP:0000951	Abnormality of the skin
200879	LIPH	HP:0008070	Sparse hair
200879	LIPH	HP:0001597	Abnormality of the nail
200879	LIPH	HP:0001596	Alopecia
200879	LIPH	HP:0005338	Sparse lateral eyebrow
200879	LIPH	HP:0000486	Strabismus
200879	LIPH	HP:0000479	Abnormal retinal morphology
200879	LIPH	HP:0000518	Cataract
200894	ARL13B	HP:0001161	Hand polydactyly
200894	ARL13B	HP:0002419	Molar tooth sign on MRI
200894	ARL13B	HP:0001290	Generalized hypotonia
200894	ARL13B	HP:0001276	Hypertonia
200894	ARL13B	HP:0001288	Gait disturbance
200894	ARL13B	HP:0001250	Seizure
200894	ARL13B	HP:0001252	Hypotonia
200894	ARL13B	HP:0001251	Ataxia
200894	ARL13B	HP:0001249	Intellectual disability
200894	ARL13B	HP:0001263	Global developmental delay
200894	ARL13B	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
200894	ARL13B	HP:0002553	Highly arched eyebrow
200894	ARL13B	HP:0008872	Feeding difficulties in infancy
200894	ARL13B	HP:0001344	Absent speech
200894	ARL13B	HP:0000007	Autosomal recessive inheritance
200894	ARL13B	HP:0001337	Tremor
200894	ARL13B	HP:0001320	Cerebellar vermis hypoplasia
200894	ARL13B	HP:0002650	Scoliosis
200894	ARL13B	HP:0002793	Abnormal pattern of respiration
200894	ARL13B	HP:0003312	Abnormal form of the vertebral bodies
200894	ARL13B	HP:0002085	Occipital encephalocele
200894	ARL13B	HP:0002084	Encephalocele
200894	ARL13B	HP:0002126	Polymicrogyria
200894	ARL13B	HP:0002104	Apnea
200894	ARL13B	HP:0002269	Abnormality of neuronal migration
200894	ARL13B	HP:0002240	Hepatomegaly
200894	ARL13B	HP:0002251	Aganglionic megacolon
200894	ARL13B	HP:0003623	Neonatal onset
200894	ARL13B	HP:0000639	Nystagmus
200894	ARL13B	HP:0000612	Iris coloboma
200894	ARL13B	HP:0000657	Oculomotor apraxia
200894	ARL13B	HP:0030680	Abnormality of cardiovascular system morphology
200894	ARL13B	HP:0031936	Delayed ability to walk
200894	ARL13B	HP:0004422	Biparietal narrowing
200894	ARL13B	HP:0000864	Abnormality of the hypothalamus-pituitary axis
200894	ARL13B	HP:0000276	Long face
200894	ARL13B	HP:0000238	Hydrocephalus
200894	ARL13B	HP:0002883	Hyperventilation
200894	ARL13B	HP:0002876	Episodic tachypnea
200894	ARL13B	HP:0000202	Orofacial cleft
200894	ARL13B	HP:0001513	Obesity
200894	ARL13B	HP:0006579	Prolonged neonatal jaundice
200894	ARL13B	HP:0001696	Situs inversus totalis
200894	ARL13B	HP:0000369	Low-set ears
200894	ARL13B	HP:0000486	Strabismus
200894	ARL13B	HP:0000463	Anteverted nares
200894	ARL13B	HP:0000426	Prominent nasal bridge
200894	ARL13B	HP:0001829	Foot polydactyly
200894	ARL13B	HP:0000508	Ptosis
200894	ARL13B	HP:0000580	Pigmentary retinopathy
200894	ARL13B	HP:0000543	Optic disc pallor
200931	SLC51A	HP:0000007	Autosomal recessive inheritance
200931	SLC51A	HP:0001405	Periportal fibrosis
200931	SLC51A	HP:0001406	Intrahepatic cholestasis
200931	SLC51A	HP:0002028	Chronic diarrhea
200931	SLC51A	HP:0030948	Elevated gamma-glutamyltransferase level
200931	SLC51A	HP:0011888	Bleeding requiring red cell transfusion
200931	SLC51A	HP:0003593	Infantile onset
200931	SLC51A	HP:0003155	Elevated circulating alkaline phosphatase concentration
200931	SLC51A	HP:0000978	Bruising susceptibility
200931	SLC51A	HP:0001508	Failure to thrive
200931	SLC51A	HP:0002910	Elevated hepatic transaminase
200931	SLC51A	HP:0002908	Conjugated hyperbilirubinemia
200942	KLHDC8B	HP:0000007	Autosomal recessive inheritance
200942	KLHDC8B	HP:0012189	Hodgkin lymphoma
200942	KLHDC8B	HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
200942	KLHDC8B	HP:0003459	Polyclonal elevation of IgM
201134	CEP112	HP:0008734	Decreased testicular size
201134	CEP112	HP:0000007	Autosomal recessive inheritance
201134	CEP112	HP:0012869	Acephalic spermatozoa
201134	CEP112	HP:0003251	Male infertility
201134	CEP112	HP:0030087	Abnormal circulating testosterone concentration
201134	CEP112	HP:0012207	Reduced sperm motility
201163	FLCN	HP:0002463	Language impairment
201163	FLCN	HP:0002474	Expressive language delay
201163	FLCN	HP:0010863	Receptive language delay
201163	FLCN	HP:0003745	Sporadic
201163	FLCN	HP:0032227	Sebaceous hyperplasia
201163	FLCN	HP:0032228	Trichodiscoma
201163	FLCN	HP:0001290	Generalized hypotonia
201163	FLCN	HP:0001256	Intellectual disability, mild
201163	FLCN	HP:0001250	Seizure
201163	FLCN	HP:0001263	Global developmental delay
201163	FLCN	HP:0003829	Typified by incomplete penetrance
201163	FLCN	HP:0008872	Feeding difficulties in infancy
201163	FLCN	HP:0000006	Autosomal dominant inheritance
201163	FLCN	HP:0002650	Scoliosis
201163	FLCN	HP:0000154	Wide mouth
201163	FLCN	HP:0007620	Cutaneous leiomyoma
201163	FLCN	HP:0001428	Somatic mutation
201163	FLCN	HP:0000107	Renal cyst
201163	FLCN	HP:0002020	Gastroesophageal reflux
201163	FLCN	HP:0002011	Morphological central nervous system abnormality
201163	FLCN	HP:0005948	Multiple pulmonary cysts
201163	FLCN	HP:0002086	Abnormality of the respiratory system
201163	FLCN	HP:0002097	Emphysema
201163	FLCN	HP:0002079	Hypoplasia of the corpus callosum
201163	FLCN	HP:0002103	Abnormal pleura morphology
201163	FLCN	HP:0002108	Spontaneous pneumothorax
201163	FLCN	HP:0002107	Pneumothorax
201163	FLCN	HP:0010609	Skin tags
201163	FLCN	HP:0010535	Sleep apnea
201163	FLCN	HP:0010529	Echolalia
201163	FLCN	HP:0009726	Renal neoplasm
201163	FLCN	HP:0200136	Oral-pharyngeal dysphagia
201163	FLCN	HP:0002381	Aphasia
201163	FLCN	HP:0002360	Sleep disturbance
201163	FLCN	HP:0001012	Multiple lipomas
201163	FLCN	HP:0002353	EEG abnormality
201163	FLCN	HP:0200034	Papule
201163	FLCN	HP:0100632	Pulmonary sequestration
201163	FLCN	HP:0005584	Renal cell carcinoma
201163	FLCN	HP:0000678	Dental crowding
201163	FLCN	HP:0000689	Dental malocclusion
201163	FLCN	HP:0004322	Short stature
201163	FLCN	HP:0003003	Colon cancer
201163	FLCN	HP:0000752	Hyperactivity
201163	FLCN	HP:0000717	Autism
201163	FLCN	HP:0003146	Hypocholesterolemia
201163	FLCN	HP:0000821	Hypothyroidism
201163	FLCN	HP:0007703	Abnormality of retinal pigmentation
201163	FLCN	HP:0000243	Trigonocephaly
201163	FLCN	HP:0002897	Parathyroid adenoma
201163	FLCN	HP:0000252	Microcephaly
201163	FLCN	HP:0012210	Abnormal renal morphology
201163	FLCN	HP:0000218	High palate
201163	FLCN	HP:0002891	Uterine leiomyosarcoma
201163	FLCN	HP:0002865	Medullary thyroid carcinoma
201163	FLCN	HP:0001508	Failure to thrive
201163	FLCN	HP:0001518	Small for gestational age
201163	FLCN	HP:0000365	Hearing impairment
201163	FLCN	HP:0000337	Broad forehead
201163	FLCN	HP:0000347	Micrognathia
201163	FLCN	HP:0000319	Smooth philtrum
201163	FLCN	HP:0000316	Hypertelorism
201163	FLCN	HP:0000325	Triangular face
201163	FLCN	HP:0001655	Patent foramen ovale
201163	FLCN	HP:0001626	Abnormality of the cardiovascular system
201163	FLCN	HP:0001631	Atrial septal defect
201163	FLCN	HP:0000303	Mandibular prognathia
201163	FLCN	HP:0005274	Prominent nasal tip
201163	FLCN	HP:0000494	Downslanted palpebral fissures
201163	FLCN	HP:0012448	Delayed myelination
201163	FLCN	HP:0030255	Large intestinal polyposis
201163	FLCN	HP:0006753	Neoplasm of the stomach
201163	FLCN	HP:0006755	Cutaneous leiomyosarcoma
201163	FLCN	HP:0006740	Transitional cell carcinoma of the bladder
201163	FLCN	HP:0006716	Hereditary nonpolyposis colorectal carcinoma
201163	FLCN	HP:0030436	Fibrofolliculoma
201163	FLCN	HP:0000540	Hypermetropia
201294	UNC13D	HP:0001250	Seizure
201294	UNC13D	HP:0002583	Colitis
201294	UNC13D	HP:0001259	Coma
201294	UNC13D	HP:0002500	Abnormal cerebral white matter morphology
201294	UNC13D	HP:0000007	Autosomal recessive inheritance
201294	UNC13D	HP:0002611	Cholestatic liver disease
201294	UNC13D	HP:0012178	Reduced natural killer cell activity
201294	UNC13D	HP:0012156	Hemophagocytosis
201294	UNC13D	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
201294	UNC13D	HP:0001433	Hepatosplenomegaly
201294	UNC13D	HP:0001410	Decreased liver function
201294	UNC13D	HP:0002716	Lymphadenopathy
201294	UNC13D	HP:0002086	Abnormality of the respiratory system
201294	UNC13D	HP:0002155	Hypertriglyceridemia
201294	UNC13D	HP:0011900	Hypofibrinogenemia
201294	UNC13D	HP:0003593	Infantile onset
201294	UNC13D	HP:0002240	Hepatomegaly
201294	UNC13D	HP:0002383	Infectious encephalitis
201294	UNC13D	HP:0001019	Erythroderma
201294	UNC13D	HP:0009830	Peripheral neuropathy
201294	UNC13D	HP:0003623	Neonatal onset
201294	UNC13D	HP:0003621	Juvenile onset
201294	UNC13D	HP:0001945	Fever
201294	UNC13D	HP:0001903	Anemia
201294	UNC13D	HP:0001913	Granulocytopenia
201294	UNC13D	HP:0004302	Functional motor deficit
201294	UNC13D	HP:0004313	Decreased circulating antibody level
201294	UNC13D	HP:0003073	Hypoalbuminemia
201294	UNC13D	HP:0000707	Abnormality of the nervous system
201294	UNC13D	HP:0011463	Childhood onset
201294	UNC13D	HP:0030783	Increased circulating interleukin 6 concentration
201294	UNC13D	HP:0003281	Increased circulating ferritin concentration
201294	UNC13D	HP:0003256	Abnormality of the coagulation cascade
201294	UNC13D	HP:0000979	Purpura
201294	UNC13D	HP:0000978	Bruising susceptibility
201294	UNC13D	HP:0000988	Skin rash
201294	UNC13D	HP:0000952	Jaundice
201294	UNC13D	HP:0000967	Petechiae
201294	UNC13D	HP:0040186	Maculopapular exanthema
201294	UNC13D	HP:0012229	CSF pleocytosis
201294	UNC13D	HP:0012211	Abnormal renal physiology
201294	UNC13D	HP:0031364	Ecchymosis
201294	UNC13D	HP:0002910	Elevated hepatic transaminase
201294	UNC13D	HP:0002958	Immune dysregulation
201294	UNC13D	HP:0000407	Sensorineural hearing impairment
201294	UNC13D	HP:0011118	Abnormality of tumor necrosis factor secretion
201294	UNC13D	HP:0011121	Abnormality of skin morphology
201294	UNC13D	HP:0011112	Abnormality of serum cytokine level
201294	UNC13D	HP:0001744	Splenomegaly
201294	UNC13D	HP:0025708	Early young adult onset
201294	UNC13D	HP:0030356	Increased circulating interferon-gamma concentration
201294	UNC13D	HP:0001873	Thrombocytopenia
201294	UNC13D	HP:0001875	Neutropenia
201595	STT3B	HP:0001290	Generalized hypotonia
201595	STT3B	HP:0001272	Cerebellar atrophy
201595	STT3B	HP:0001250	Seizure
201595	STT3B	HP:0001252	Hypotonia
201595	STT3B	HP:0001249	Intellectual disability
201595	STT3B	HP:0001263	Global developmental delay
201595	STT3B	HP:0003819	Death in childhood
201595	STT3B	HP:0000078	Abnormality of the genital system
201595	STT3B	HP:0000046	Small scrotum
201595	STT3B	HP:0000054	Micropenis
201595	STT3B	HP:0000028	Cryptorchidism
201595	STT3B	HP:0000007	Autosomal recessive inheritance
201595	STT3B	HP:0002098	Respiratory distress
201595	STT3B	HP:0011968	Feeding difficulties
201595	STT3B	HP:0000648	Optic atrophy
201595	STT3B	HP:0011461	Fetal onset
201595	STT3B	HP:0000252	Microcephaly
201595	STT3B	HP:0001508	Failure to thrive
201595	STT3B	HP:0001511	Intrauterine growth retardation
201595	STT3B	HP:0012345	Abnormal glycosylation
201595	STT3B	HP:0001873	Thrombocytopenia
201973	PRIMPOL	HP:0000006	Autosomal dominant inheritance
201973	PRIMPOL	HP:0007663	Reduced visual acuity
201973	PRIMPOL	HP:0011003	High myopia
202018	TAPT1	HP:0001181	Adducted thumb
202018	TAPT1	HP:0001195	Single umbilical artery
202018	TAPT1	HP:0001371	Flexion contracture
202018	TAPT1	HP:0000054	Micropenis
202018	TAPT1	HP:0000047	Hypospadias
202018	TAPT1	HP:0000007	Autosomal recessive inheritance
202018	TAPT1	HP:0001321	Cerebellar hypoplasia
202018	TAPT1	HP:0003978	Fractured radius
202018	TAPT1	HP:0002645	Wormian bones
202018	TAPT1	HP:0031107	Decreased fibular diameter
202018	TAPT1	HP:0000175	Cleft palate
202018	TAPT1	HP:0000126	Hydronephrosis
202018	TAPT1	HP:0002089	Pulmonary hypoplasia
202018	TAPT1	HP:0002119	Ventriculomegaly
202018	TAPT1	HP:0002265	Large fleshy ears
202018	TAPT1	HP:0002202	Pleural effusion
202018	TAPT1	HP:0009826	Limb undergrowth
202018	TAPT1	HP:0004331	Decreased skull ossification
202018	TAPT1	HP:0003015	Flared metaphysis
202018	TAPT1	HP:0000773	Short ribs
202018	TAPT1	HP:0003196	Short nose
202018	TAPT1	HP:0000926	Platyspondyly
202018	TAPT1	HP:0000923	Beaded ribs
202018	TAPT1	HP:0100333	Unilateral cleft lip
202018	TAPT1	HP:0003097	Short femur
202018	TAPT1	HP:0005855	Multiple prenatal fractures
202018	TAPT1	HP:0000938	Osteopenia
202018	TAPT1	HP:0000252	Microcephaly
202018	TAPT1	HP:0000248	Brachycephaly
202018	TAPT1	HP:0001561	Polyhydramnios
202018	TAPT1	HP:0001541	Ascites
202018	TAPT1	HP:0001518	Small for gestational age
202018	TAPT1	HP:0001511	Intrauterine growth retardation
202018	TAPT1	HP:0012368	Flat face
202018	TAPT1	HP:0005257	Thoracic hypoplasia
202018	TAPT1	HP:0000358	Posteriorly rotated ears
202018	TAPT1	HP:0000369	Low-set ears
202018	TAPT1	HP:0000347	Micrognathia
202018	TAPT1	HP:0000316	Hypertelorism
202018	TAPT1	HP:0001629	Ventricular septal defect
202018	TAPT1	HP:0001640	Cardiomegaly
202018	TAPT1	HP:0001639	Hypertrophic cardiomyopathy
202018	TAPT1	HP:0006640	Multiple rib fractures
202018	TAPT1	HP:0000463	Anteverted nares
202018	TAPT1	HP:0001789	Hydrops fetalis
202018	TAPT1	HP:0000470	Short neck
202018	TAPT1	HP:0000465	Webbed neck
202018	TAPT1	HP:0000431	Wide nasal bridge
202018	TAPT1	HP:0000506	Telecanthus
202018	TAPT1	HP:0011220	Prominent forehead
203068	TUBB	HP:0025102	Dysgenesis of the basal ganglia
203068	TUBB	HP:0008572	External ear malformation
203068	TUBB	HP:0100807	Long fingers
203068	TUBB	HP:0001270	Motor delay
203068	TUBB	HP:0001252	Hypotonia
203068	TUBB	HP:0001251	Ataxia
203068	TUBB	HP:0001249	Intellectual disability
203068	TUBB	HP:0001263	Global developmental delay
203068	TUBB	HP:0002557	Hypoplastic nipples
203068	TUBB	HP:0007400	Irregular hyperpigmentation
203068	TUBB	HP:0002539	Cortical dysplasia
203068	TUBB	HP:0000046	Small scrotum
203068	TUBB	HP:0000045	Abnormality of the scrotum
203068	TUBB	HP:0000047	Hypospadias
203068	TUBB	HP:0000023	Inguinal hernia
203068	TUBB	HP:0000028	Cryptorchidism
203068	TUBB	HP:0007522	Increased number of skin folds
203068	TUBB	HP:0033725	Thin corpus callosum
203068	TUBB	HP:0032409	Subcortical band heterotopia
203068	TUBB	HP:0001338	Partial agenesis of the corpus callosum
203068	TUBB	HP:0000006	Autosomal dominant inheritance
203068	TUBB	HP:0001305	Dandy-Walker malformation
203068	TUBB	HP:0001320	Cerebellar vermis hypoplasia
203068	TUBB	HP:0032471	Focal polymicrogyria
203068	TUBB	HP:0000160	Narrow mouth
203068	TUBB	HP:0000175	Cleft palate
203068	TUBB	HP:0100560	Upper limb asymmetry
203068	TUBB	HP:0100559	Lower limb asymmetry
203068	TUBB	HP:0002079	Hypoplasia of the corpus callosum
203068	TUBB	HP:0034400	Circumferential skin creases on extremities
203068	TUBB	HP:0002198	Dilated fourth ventricle
203068	TUBB	HP:0003577	Congenital onset
203068	TUBB	HP:0002230	Generalized hirsutism
203068	TUBB	HP:0002365	Hypoplasia of the brainstem
203068	TUBB	HP:0001072	Thickened skin
203068	TUBB	HP:0006855	Cerebellar vermis atrophy
203068	TUBB	HP:0000629	Periorbital fullness
203068	TUBB	HP:0004322	Short stature
203068	TUBB	HP:0003011	Abnormality of the musculature
203068	TUBB	HP:0012745	Short palpebral fissure
203068	TUBB	HP:0000767	Pectus excavatum
203068	TUBB	HP:0000750	Delayed speech and language development
203068	TUBB	HP:0011451	Primary microcephaly
203068	TUBB	HP:0000969	Edema
203068	TUBB	HP:0000286	Epicanthus
203068	TUBB	HP:0000271	Abnormality of the face
203068	TUBB	HP:0000252	Microcephaly
203068	TUBB	HP:0000248	Brachycephaly
203068	TUBB	HP:0000218	High palate
203068	TUBB	HP:0001537	Umbilical hernia
203068	TUBB	HP:0012368	Flat face
203068	TUBB	HP:0000396	Overfolded helix
203068	TUBB	HP:0000358	Posteriorly rotated ears
203068	TUBB	HP:0000369	Low-set ears
203068	TUBB	HP:0000368	Low-set, posteriorly rotated ears
203068	TUBB	HP:0000343	Long philtrum
203068	TUBB	HP:0000347	Micrognathia
203068	TUBB	HP:0000316	Hypertelorism
203068	TUBB	HP:0001635	Congestive heart failure
203068	TUBB	HP:0006610	Wide intermamillary distance
203068	TUBB	HP:0007973	Retinal dysplasia
203068	TUBB	HP:0005280	Depressed nasal bridge
203068	TUBB	HP:0000482	Microcornea
203068	TUBB	HP:0000488	Retinopathy
203068	TUBB	HP:0000470	Short neck
203068	TUBB	HP:0006768	Localized neuroblastoma
203068	TUBB	HP:0000582	Upslanted palpebral fissure
203068	TUBB	HP:0000581	Blepharophimosis
203068	TUBB	HP:0000568	Microphthalmia
203190	LGI3	HP:0002411	Myokymia
203190	LGI3	HP:0001251	Ataxia
203190	LGI3	HP:0001249	Intellectual disability
203190	LGI3	HP:0001265	Hyporeflexia
203190	LGI3	HP:0001263	Global developmental delay
203190	LGI3	HP:0001385	Hip dysplasia
203190	LGI3	HP:0000007	Autosomal recessive inheritance
203190	LGI3	HP:0001308	Tongue fasciculations
203190	LGI3	HP:0000160	Narrow mouth
203190	LGI3	HP:0008936	Axial hypotonia
203190	LGI3	HP:0003593	Infantile onset
203190	LGI3	HP:0007018	Attention deficit hyperactivity disorder
203190	LGI3	HP:0002375	Hypokinesia
203190	LGI3	HP:0004322	Short stature
203190	LGI3	HP:0000768	Pectus carinatum
203190	LGI3	HP:0000739	Anxiety
203190	LGI3	HP:0011463	Childhood onset
203190	LGI3	HP:0000964	Eczema
203190	LGI3	HP:0002808	Kyphosis
203190	LGI3	HP:0000253	Progressive microcephaly
203190	LGI3	HP:0001508	Failure to thrive
203190	LGI3	HP:0012389	Appendicular hypotonia
203190	LGI3	HP:0000317	Facial myokymia
203228	C9orf72	HP:0002442	Dyscalculia
203228	C9orf72	HP:0007308	Extrapyramidal dyskinesia
203228	C9orf72	HP:0001260	Dysarthria
203228	C9orf72	HP:0007354	Amyotrophic lateral sclerosis
203228	C9orf72	HP:0002529	Neuronal loss in central nervous system
203228	C9orf72	HP:0001324	Muscle weakness
203228	C9orf72	HP:0000006	Autosomal dominant inheritance
203228	C9orf72	HP:0001300	Parkinsonism
203228	C9orf72	HP:0002059	Cerebral atrophy
203228	C9orf72	HP:0002145	Frontotemporal dementia
203228	C9orf72	HP:0002186	Apraxia
203228	C9orf72	HP:0002171	Gliosis
203228	C9orf72	HP:0002273	Tetraparesis
203228	C9orf72	HP:0003581	Adult onset
203228	C9orf72	HP:0002385	Paraparesis
203228	C9orf72	HP:0002366	Abnormal lower motor neuron morphology
203228	C9orf72	HP:0003678	Rapidly progressive
203228	C9orf72	HP:0000605	Supranuclear gaze palsy
203228	C9orf72	HP:0000738	Hallucinations
203228	C9orf72	HP:0000746	Delusions
203228	C9orf72	HP:0000741	Apathy
203228	C9orf72	HP:0000716	Depression
203228	C9orf72	HP:0000726	Dementia
203228	C9orf72	HP:0003202	Skeletal muscle atrophy
203286	ANKS6	HP:0003774	Stage 5 chronic kidney disease
203286	ANKS6	HP:0000083	Renal insufficiency
203286	ANKS6	HP:0000090	Nephronophthisis
203286	ANKS6	HP:0001396	Cholestasis
203286	ANKS6	HP:0000007	Autosomal recessive inheritance
203286	ANKS6	HP:0000113	Polycystic kidney dysplasia
203286	ANKS6	HP:0000105	Enlarged kidney
203286	ANKS6	HP:0001405	Periportal fibrosis
203286	ANKS6	HP:0003593	Infantile onset
203286	ANKS6	HP:0003577	Congenital onset
203286	ANKS6	HP:0003621	Juvenile onset
203286	ANKS6	HP:0011463	Childhood onset
203286	ANKS6	HP:0001696	Situs inversus totalis
203286	ANKS6	HP:0001650	Aortic valve stenosis
203286	ANKS6	HP:0001643	Patent ductus arteriosus
203286	ANKS6	HP:0001642	Pulmonic stenosis
203286	ANKS6	HP:0001639	Hypertrophic cardiomyopathy
203547	VMA21	HP:0002486	Myotonia
203547	VMA21	HP:0003713	Muscle fiber necrosis
203547	VMA21	HP:0001270	Motor delay
203547	VMA21	HP:0001249	Intellectual disability
203547	VMA21	HP:0003829	Typified by incomplete penetrance
203547	VMA21	HP:0001371	Flexion contracture
203547	VMA21	HP:0002650	Scoliosis
203547	VMA21	HP:0001319	Neonatal hypotonia
203547	VMA21	HP:0008994	Proximal muscle weakness in lower limbs
203547	VMA21	HP:0008956	Proximal lower limb amyotrophy
203547	VMA21	HP:0001419	X-linked recessive inheritance
203547	VMA21	HP:0002093	Respiratory insufficiency
203547	VMA21	HP:0003391	Gowers sign
203547	VMA21	HP:0003551	Difficulty climbing stairs
203547	VMA21	HP:0003677	Slowly progressive
203547	VMA21	HP:0009046	Difficulty running
203547	VMA21	HP:0011463	Childhood onset
203547	VMA21	HP:0003198	Myopathy
203547	VMA21	HP:0003236	Elevated circulating creatine kinase concentration
203547	VMA21	HP:0003202	Skeletal muscle atrophy
203547	VMA21	HP:0001626	Abnormality of the cardiovascular system
203547	VMA21	HP:0007941	Limited extraocular movements
203547	VMA21	HP:0025717	Skeletal muscle autophagosome accumulation
203859	ANO5	HP:0007210	Lower limb amyotrophy
203859	ANO5	HP:0003749	Pelvic girdle muscle weakness
203859	ANO5	HP:0003730	EMG: myotonic runs
203859	ANO5	HP:0003731	Quadriceps muscle weakness
203859	ANO5	HP:0003738	Exercise-induced myalgia
203859	ANO5	HP:0003707	Calf muscle pseudohypertrophy
203859	ANO5	HP:0003701	Proximal muscle weakness
203859	ANO5	HP:0001239	Wrist flexion contracture
203859	ANO5	HP:0002515	Waddling gait
203859	ANO5	HP:0001371	Flexion contracture
203859	ANO5	HP:0002659	Increased susceptibility to fractures
203859	ANO5	HP:0000007	Autosomal recessive inheritance
203859	ANO5	HP:0000006	Autosomal dominant inheritance
203859	ANO5	HP:0002650	Scoliosis
203859	ANO5	HP:0008994	Proximal muscle weakness in lower limbs
203859	ANO5	HP:0008997	Proximal muscle weakness in upper limbs
203859	ANO5	HP:0008981	Calf muscle hypertrophy
203859	ANO5	HP:0008988	Pelvic girdle muscle atrophy
203859	ANO5	HP:0007626	Mandibular osteomyelitis
203859	ANO5	HP:0008959	Distal upper limb muscle weakness
203859	ANO5	HP:0001430	Abnormality of the calf musculature
203859	ANO5	HP:0002757	Recurrent fractures
203859	ANO5	HP:0002754	Osteomyelitis
203859	ANO5	HP:0031237	Internally nucleated skeletal muscle fibers
203859	ANO5	HP:0003326	Myalgia
203859	ANO5	HP:0003323	Progressive muscle weakness
203859	ANO5	HP:0003482	EMG: axonal abnormality
203859	ANO5	HP:0003458	EMG: myopathic abnormalities
203859	ANO5	HP:0003445	EMG: neuropathic changes
203859	ANO5	HP:0003596	Middle age onset
203859	ANO5	HP:0003555	Muscle fiber splitting
203859	ANO5	HP:0003552	Muscle stiffness
203859	ANO5	HP:0003551	Difficulty climbing stairs
203859	ANO5	HP:0003547	Shoulder girdle muscle weakness
203859	ANO5	HP:0003560	Muscular dystrophy
203859	ANO5	HP:0003557	Increased variability in muscle fiber diameter
203859	ANO5	HP:0010628	Facial palsy
203859	ANO5	HP:0003693	Distal amyotrophy
203859	ANO5	HP:0003691	Scapular winging
203859	ANO5	HP:0003676	Progressive
203859	ANO5	HP:0002355	Difficulty walking
203859	ANO5	HP:0003621	Juvenile onset
203859	ANO5	HP:0009073	Progressive proximal muscle weakness
203859	ANO5	HP:0009050	Quadriceps muscle atrophy
203859	ANO5	HP:0009053	Distal lower limb muscle weakness
203859	ANO5	HP:0009046	Difficulty running
203859	ANO5	HP:0009049	Peroneal muscle atrophy
203859	ANO5	HP:0009025	Increased connective tissue
203859	ANO5	HP:0004303	Abnormal muscle fiber morphology
203859	ANO5	HP:0003089	Hamstring contractures
203859	ANO5	HP:0012785	Flexion contracture of finger
203859	ANO5	HP:0011462	Young adult onset
203859	ANO5	HP:0009129	Upper limb amyotrophy
203859	ANO5	HP:0012802	Broad jaw
203859	ANO5	HP:0003236	Elevated circulating creatine kinase concentration
203859	ANO5	HP:0003201	Rhabdomyolysis
203859	ANO5	HP:0000935	Thickened cortex of long bones
203859	ANO5	HP:0000938	Osteopenia
203859	ANO5	HP:0100295	Muscle fiber atrophy
203859	ANO5	HP:0100297	Increased endomysial connective tissue
203859	ANO5	HP:0006466	Ankle flexion contracture
203859	ANO5	HP:0002816	Genu recurvatum
203859	ANO5	HP:0005045	Diaphyseal cortical sclerosis
203859	ANO5	HP:0002913	Myoglobinuria
203859	ANO5	HP:0006487	Bowing of the long bones
203859	ANO5	HP:0002987	Elbow flexion contracture
203859	ANO5	HP:0001638	Cardiomyopathy
203859	ANO5	HP:0030234	Highly elevated creatine kinase
203859	ANO5	HP:0006785	Limb-girdle muscular dystrophy
203859	ANO5	HP:0012548	Fatty replacement of skeletal muscle
204219	CERS3	HP:0025114	Hypergranulosis
204219	CERS3	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
204219	CERS3	HP:0000007	Autosomal recessive inheritance
204219	CERS3	HP:0033252	Palmar hyperlinearity
204219	CERS3	HP:0003577	Congenital onset
204219	CERS3	HP:0001019	Erythroderma
204219	CERS3	HP:0200020	Corneal erosion
204219	CERS3	HP:0025092	Epidermal acanthosis
204219	CERS3	HP:0000656	Ectropion
204219	CERS3	HP:0004322	Short stature
204219	CERS3	HP:0000989	Pruritus
204219	CERS3	HP:0000982	Palmoplantar keratoderma
204219	CERS3	HP:0000966	Hypohidrosis
204219	CERS3	HP:0000962	Hyperkeratosis
204219	CERS3	HP:0040162	Orthokeratosis
204219	CERS3	HP:0008064	Ichthyosis
204219	CERS3	HP:0001597	Abnormality of the nail
204219	CERS3	HP:0001596	Alopecia
204219	CERS3	HP:0001508	Failure to thrive
204219	CERS3	HP:0000365	Hearing impairment
204219	CERS3	HP:0012472	Eclabion
204219	CERS3	HP:0000491	Keratitis
205327	C2orf69	HP:0003700	Generalized amyotrophy
205327	C2orf69	HP:0001250	Seizure
205327	C2orf69	HP:0001252	Hypotonia
205327	C2orf69	HP:0001263	Global developmental delay
205327	C2orf69	HP:0001257	Spasticity
205327	C2orf69	HP:0003819	Death in childhood
205327	C2orf69	HP:0001369	Arthritis
205327	C2orf69	HP:0000007	Autosomal recessive inheritance
205327	C2orf69	HP:0002754	Osteomyelitis
205327	C2orf69	HP:0003429	CNS hypomyelination
205327	C2orf69	HP:0003593	Infantile onset
205327	C2orf69	HP:0003577	Congenital onset
205327	C2orf69	HP:0002240	Hepatomegaly
205327	C2orf69	HP:0004840	Hypochromic microcytic anemia
205327	C2orf69	HP:0003623	Neonatal onset
205327	C2orf69	HP:0001954	Recurrent fever
205327	C2orf69	HP:0006989	Dysplastic corpus callosum
205327	C2orf69	HP:0004322	Short stature
205327	C2orf69	HP:0003095	Septic arthritis
205327	C2orf69	HP:0003270	Abdominal distention
205327	C2orf69	HP:0001522	Death in infancy
205327	C2orf69	HP:0001508	Failure to thrive
205327	C2orf69	HP:0005484	Secondary microcephaly
205327	C2orf69	HP:0011227	Elevated circulating C-reactive protein concentration
205717	USF3	HP:0001156	Brachydactyly
205717	USF3	HP:0001250	Seizure
205717	USF3	HP:0001251	Ataxia
205717	USF3	HP:0001249	Intellectual disability
205717	USF3	HP:0001263	Global developmental delay
205717	USF3	HP:0008675	Enlarged polycystic ovaries
205717	USF3	HP:0002516	Increased intracranial pressure
205717	USF3	HP:0012062	Bone cyst
205717	USF3	HP:0000077	Abnormality of the kidney
205717	USF3	HP:0012032	Lipoma
205717	USF3	HP:0000036	Abnormal penis morphology
205717	USF3	HP:0007565	Multiple cafe-au-lait spots
205717	USF3	HP:0002664	Neoplasm
205717	USF3	HP:0002650	Scoliosis
205717	USF3	HP:0001317	Abnormal cerebellum morphology
205717	USF3	HP:0000158	Macroglossia
205717	USF3	HP:0001482	Subcutaneous nodule
205717	USF3	HP:0012114	Endometrial carcinoma
205717	USF3	HP:0000130	Abnormality of the uterus
205717	USF3	HP:0100543	Cognitive impairment
205717	USF3	HP:0100579	Mucosal telangiectasiae
205717	USF3	HP:0100780	Conjunctival hamartoma
205717	USF3	HP:0009720	Adenoma sebaceum
205717	USF3	HP:0010614	Fibroma
205717	USF3	HP:0001053	Hypopigmented skin patches
205717	USF3	HP:0001048	Cavernous hemangioma
205717	USF3	HP:0200034	Papule
205717	USF3	HP:0200063	Colorectal polyposis
205717	USF3	HP:0005595	Generalized hyperkeratosis
205717	USF3	HP:0005584	Renal cell carcinoma
205717	USF3	HP:0004322	Short stature
205717	USF3	HP:0003002	Breast carcinoma
205717	USF3	HP:0004390	Hamartomatous polyposis
205717	USF3	HP:0100006	Neoplasm of the central nervous system
205717	USF3	HP:0000771	Gynecomastia
205717	USF3	HP:0012733	Macule
205717	USF3	HP:0012740	Papilloma
205717	USF3	HP:0000767	Pectus excavatum
205717	USF3	HP:0100031	Neoplasm of the thyroid gland
205717	USF3	HP:0000717	Autism
205717	USF3	HP:0000853	Goiter
205717	USF3	HP:0000820	Abnormality of the thyroid gland
205717	USF3	HP:0000995	Melanocytic nevus
205717	USF3	HP:0000982	Palmoplantar keratoderma
205717	USF3	HP:0008069	Neoplasm of the skin
205717	USF3	HP:0000256	Macrocephaly
205717	USF3	HP:0002808	Kyphosis
205717	USF3	HP:0000221	Furrowed tongue
205717	USF3	HP:0000218	High palate
205717	USF3	HP:0002861	Melanoma
205717	USF3	HP:0002858	Meningioma
205717	USF3	HP:0001508	Failure to thrive
205717	USF3	HP:0000365	Hearing impairment
205717	USF3	HP:0005374	Cellular immunodeficiency
205717	USF3	HP:0006731	Follicular thyroid carcinoma
205717	USF3	HP:0000518	Cataract
205717	USF3	HP:0000545	Myopia
219285	SAMD9L	HP:0001272	Cerebellar atrophy
219285	SAMD9L	HP:0001288	Gait disturbance
219285	SAMD9L	HP:0001251	Ataxia
219285	SAMD9L	HP:0001260	Dysarthria
219285	SAMD9L	HP:0007360	Aplasia/Hypoplasia of the cerebellum
219285	SAMD9L	HP:0003828	Variable expressivity
219285	SAMD9L	HP:0002505	Loss of ambulation
219285	SAMD9L	HP:0002500	Abnormal cerebral white matter morphology
219285	SAMD9L	HP:0001347	Hyperreflexia
219285	SAMD9L	HP:0000007	Autosomal recessive inheritance
219285	SAMD9L	HP:0000006	Autosomal dominant inheritance
219285	SAMD9L	HP:0001310	Dysmetria
219285	SAMD9L	HP:0003390	Sensory axonal neuropathy
219285	SAMD9L	HP:0002075	Dysdiadochokinesis
219285	SAMD9L	HP:0002071	Abnormality of extrapyramidal motor function
219285	SAMD9L	HP:0003487	Babinski sign
219285	SAMD9L	HP:0002166	Impaired vibration sensation in the lower limbs
219285	SAMD9L	HP:0002167	Abnormality of speech or vocalization
219285	SAMD9L	HP:0011869	Abnormal platelet function
219285	SAMD9L	HP:0003596	Middle age onset
219285	SAMD9L	HP:0002205	Recurrent respiratory infections
219285	SAMD9L	HP:0004820	Acute myelomonocytic leukemia
219285	SAMD9L	HP:0004808	Acute myeloid leukemia
219285	SAMD9L	HP:0002317	Unsteady gait
219285	SAMD9L	HP:0003621	Juvenile onset
219285	SAMD9L	HP:0005518	Increased mean corpuscular volume
219285	SAMD9L	HP:0006801	Hyperactive deep tendon reflexes
219285	SAMD9L	HP:0000640	Gaze-evoked nystagmus
219285	SAMD9L	HP:0000639	Nystagmus
219285	SAMD9L	HP:0000651	Diplopia
219285	SAMD9L	HP:0001908	Hypoplastic anemia
219285	SAMD9L	HP:0001903	Anemia
219285	SAMD9L	HP:0004313	Decreased circulating antibody level
219285	SAMD9L	HP:0004311	Abnormal macrophage morphology
219285	SAMD9L	HP:0000762	Decreased nerve conduction velocity
219285	SAMD9L	HP:0000726	Dementia
219285	SAMD9L	HP:0011448	Ankle clonus
219285	SAMD9L	HP:0000252	Microcephaly
219285	SAMD9L	HP:0002863	Myelodysplasia
219285	SAMD9L	HP:0002936	Distal sensory impairment
219285	SAMD9L	HP:0000486	Strabismus
219285	SAMD9L	HP:0025710	Late young adult onset
219285	SAMD9L	HP:0001744	Splenomegaly
219285	SAMD9L	HP:0001761	Pes cavus
219285	SAMD9L	HP:0001874	Abnormality of neutrophils
219285	SAMD9L	HP:0001873	Thrombocytopenia
219285	SAMD9L	HP:0001876	Pancytopenia
219285	SAMD9L	HP:0001875	Neutropenia
219736	STOX1	HP:0010982	Polygenic inheritance
219736	STOX1	HP:0000093	Proteinuria
219736	STOX1	HP:0000077	Abnormality of the kidney
219736	STOX1	HP:0000147	Polycystic ovaries
219736	STOX1	HP:0002027	Abdominal pain
219736	STOX1	HP:0100767	Abnormal placenta morphology
219736	STOX1	HP:0002360	Sleep disturbance
219736	STOX1	HP:0002315	Headache
219736	STOX1	HP:0100651	Type I diabetes mellitus
219736	STOX1	HP:0100601	Eclampsia
219736	STOX1	HP:0100602	Preeclampsia
219736	STOX1	HP:0012622	Chronic kidney disease
219736	STOX1	HP:0001919	Acute kidney injury
219736	STOX1	HP:0000707	Abnormality of the nervous system
219736	STOX1	HP:0011462	Young adult onset
219736	STOX1	HP:0004421	Elevated systolic blood pressure
219736	STOX1	HP:0000822	Hypertension
219736	STOX1	HP:0003259	Elevated circulating creatinine concentration
219736	STOX1	HP:0031418	Increased body mass index
219736	STOX1	HP:0005117	Elevated diastolic blood pressure
219736	STOX1	HP:0001518	Small for gestational age
219736	STOX1	HP:0001511	Intrauterine growth retardation
219736	STOX1	HP:0005202	Helicobacter pylori infection
219736	STOX1	HP:0002910	Elevated hepatic transaminase
219736	STOX1	HP:0002960	Autoimmunity
219736	STOX1	HP:0006707	Abnormality of the hepatic vasculature
219736	STOX1	HP:0000504	Abnormality of vision
219736	STOX1	HP:0001873	Thrombocytopenia
219844	HYLS1	HP:0001177	Preaxial hand polydactyly
219844	HYLS1	HP:0001162	Postaxial hand polydactyly
219844	HYLS1	HP:0001161	Hand polydactyly
219844	HYLS1	HP:0001274	Agenesis of corpus callosum
219844	HYLS1	HP:0001288	Gait disturbance
219844	HYLS1	HP:0001250	Seizure
219844	HYLS1	HP:0001252	Hypotonia
219844	HYLS1	HP:0001251	Ataxia
219844	HYLS1	HP:0001249	Intellectual disability
219844	HYLS1	HP:0001263	Global developmental delay
219844	HYLS1	HP:0008749	Laryngeal hypoplasia
219844	HYLS1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
219844	HYLS1	HP:0002536	Abnormal cortical gyration
219844	HYLS1	HP:0002553	Highly arched eyebrow
219844	HYLS1	HP:0003826	Stillbirth
219844	HYLS1	HP:0000047	Hypospadias
219844	HYLS1	HP:0000028	Cryptorchidism
219844	HYLS1	HP:0008872	Feeding difficulties in infancy
219844	HYLS1	HP:0001331	Absent septum pellucidum
219844	HYLS1	HP:0000007	Autosomal recessive inheritance
219844	HYLS1	HP:0001337	Tremor
219844	HYLS1	HP:0001305	Dandy-Walker malformation
219844	HYLS1	HP:0001320	Cerebellar vermis hypoplasia
219844	HYLS1	HP:0002650	Scoliosis
219844	HYLS1	HP:0000193	Bifid uvula
219844	HYLS1	HP:0000161	Median cleft lip
219844	HYLS1	HP:0000176	Submucous cleft hard palate
219844	HYLS1	HP:0000175	Cleft palate
219844	HYLS1	HP:0000142	Abnormal vagina morphology
219844	HYLS1	HP:0000136	Bifid uterus
219844	HYLS1	HP:0008986	Agenesis of the diaphragm
219844	HYLS1	HP:0002777	Tracheal stenosis
219844	HYLS1	HP:0002793	Abnormal pattern of respiration
219844	HYLS1	HP:0000126	Hydronephrosis
219844	HYLS1	HP:0003312	Abnormal form of the vertebral bodies
219844	HYLS1	HP:0011803	Bifid nose
219844	HYLS1	HP:0002086	Abnormality of the respiratory system
219844	HYLS1	HP:0002084	Encephalocele
219844	HYLS1	HP:0002139	Arrhinencephaly
219844	HYLS1	HP:0002126	Polymicrogyria
219844	HYLS1	HP:0002101	Abnormal lung lobation
219844	HYLS1	HP:0002104	Apnea
219844	HYLS1	HP:0008216	Adrenal gland dysgenesis
219844	HYLS1	HP:0002269	Abnormality of neuronal migration
219844	HYLS1	HP:0002251	Aganglionic megacolon
219844	HYLS1	HP:0002282	Gray matter heterotopia
219844	HYLS1	HP:0002323	Anencephaly
219844	HYLS1	HP:0100682	Tracheal atresia
219844	HYLS1	HP:0009824	Upper limb undergrowth
219844	HYLS1	HP:0009752	Cleft in skull base
219844	HYLS1	HP:0010066	Duplication of phalanx of hallux
219844	HYLS1	HP:0006882	Severe hydrocephalus
219844	HYLS1	HP:0000639	Nystagmus
219844	HYLS1	HP:0000612	Iris coloboma
219844	HYLS1	HP:0000657	Oculomotor apraxia
219844	HYLS1	HP:0030680	Abnormality of cardiovascular system morphology
219844	HYLS1	HP:0030690	Gingival cleft
219844	HYLS1	HP:0004422	Biparietal narrowing
219844	HYLS1	HP:0004408	Abnormality of the sense of smell
219844	HYLS1	HP:0000864	Abnormality of the hypothalamus-pituitary axis
219844	HYLS1	HP:0100333	Unilateral cleft lip
219844	HYLS1	HP:0000278	Retrognathia
219844	HYLS1	HP:0000276	Long face
219844	HYLS1	HP:0006379	Proximal tibial hypoplasia
219844	HYLS1	HP:0000238	Hydrocephalus
219844	HYLS1	HP:0002876	Episodic tachypnea
219844	HYLS1	HP:0001561	Polyhydramnios
219844	HYLS1	HP:0001539	Omphalocele
219844	HYLS1	HP:0000202	Orofacial cleft
219844	HYLS1	HP:0001511	Intrauterine growth retardation
219844	HYLS1	HP:0000377	Abnormal pinna morphology
219844	HYLS1	HP:0011027	Abnormal fallopian tube morphology
219844	HYLS1	HP:0001601	Laryngomalacia
219844	HYLS1	HP:0001696	Situs inversus totalis
219844	HYLS1	HP:0000369	Low-set ears
219844	HYLS1	HP:0000368	Low-set, posteriorly rotated ears
219844	HYLS1	HP:0001674	Complete atrioventricular canal defect
219844	HYLS1	HP:0000347	Micrognathia
219844	HYLS1	HP:0002983	Micromelia
219844	HYLS1	HP:0001629	Ventricular septal defect
219844	HYLS1	HP:0001622	Premature birth
219844	HYLS1	HP:0000486	Strabismus
219844	HYLS1	HP:0000490	Deeply set eye
219844	HYLS1	HP:0000463	Anteverted nares
219844	HYLS1	HP:0000475	Broad neck
219844	HYLS1	HP:0001747	Accessory spleen
219844	HYLS1	HP:0001762	Talipes equinovarus
219844	HYLS1	HP:0000426	Prominent nasal bridge
219844	HYLS1	HP:0004122	Midline defect of the nose
219844	HYLS1	HP:0000528	Anophthalmia
219844	HYLS1	HP:0001829	Foot polydactyly
219844	HYLS1	HP:0000508	Ptosis
219844	HYLS1	HP:0000568	Microphthalmia
219854	TMEM218	HP:0001161	Hand polydactyly
219854	TMEM218	HP:0002419	Molar tooth sign on MRI
219854	TMEM218	HP:0001288	Gait disturbance
219854	TMEM218	HP:0001250	Seizure
219854	TMEM218	HP:0001252	Hypotonia
219854	TMEM218	HP:0001251	Ataxia
219854	TMEM218	HP:0001249	Intellectual disability
219854	TMEM218	HP:0001263	Global developmental delay
219854	TMEM218	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
219854	TMEM218	HP:0002553	Highly arched eyebrow
219854	TMEM218	HP:0008872	Feeding difficulties in infancy
219854	TMEM218	HP:0000007	Autosomal recessive inheritance
219854	TMEM218	HP:0001337	Tremor
219854	TMEM218	HP:0001320	Cerebellar vermis hypoplasia
219854	TMEM218	HP:0002650	Scoliosis
219854	TMEM218	HP:0000113	Polycystic kidney dysplasia
219854	TMEM218	HP:0002793	Abnormal pattern of respiration
219854	TMEM218	HP:0003312	Abnormal form of the vertebral bodies
219854	TMEM218	HP:0002085	Occipital encephalocele
219854	TMEM218	HP:0002084	Encephalocele
219854	TMEM218	HP:0002126	Polymicrogyria
219854	TMEM218	HP:0002104	Apnea
219854	TMEM218	HP:0002269	Abnormality of neuronal migration
219854	TMEM218	HP:0002251	Aganglionic megacolon
219854	TMEM218	HP:0007021	Pain insensitivity
219854	TMEM218	HP:0000639	Nystagmus
219854	TMEM218	HP:0000612	Iris coloboma
219854	TMEM218	HP:0000657	Oculomotor apraxia
219854	TMEM218	HP:0030674	Antenatal onset
219854	TMEM218	HP:0030680	Abnormality of cardiovascular system morphology
219854	TMEM218	HP:0004383	Hypoplastic left heart
219854	TMEM218	HP:0009183	Joint contracture of the 5th finger
219854	TMEM218	HP:0004422	Biparietal narrowing
219854	TMEM218	HP:0000864	Abnormality of the hypothalamus-pituitary axis
219854	TMEM218	HP:0040213	Hypopnea
219854	TMEM218	HP:0100259	Postaxial polydactyly
219854	TMEM218	HP:0000276	Long face
219854	TMEM218	HP:0000238	Hydrocephalus
219854	TMEM218	HP:0002876	Episodic tachypnea
219854	TMEM218	HP:0025502	Overweight
219854	TMEM218	HP:0000202	Orofacial cleft
219854	TMEM218	HP:0001696	Situs inversus totalis
219854	TMEM218	HP:0000369	Low-set ears
219854	TMEM218	HP:0000486	Strabismus
219854	TMEM218	HP:0000463	Anteverted nares
219854	TMEM218	HP:0000426	Prominent nasal bridge
219854	TMEM218	HP:0001829	Foot polydactyly
219854	TMEM218	HP:0000508	Ptosis
219854	TMEM218	HP:0000556	Retinal dystrophy
219972	MPEG1	HP:0008619	Bilateral sensorineural hearing impairment
219972	MPEG1	HP:0032261	Nontuberculous mycobacterial pulmonary infection
219972	MPEG1	HP:0002578	Gastroparesis
219972	MPEG1	HP:0000006	Autosomal dominant inheritance
219972	MPEG1	HP:0031292	Cutaneous abscess
219972	MPEG1	HP:0002110	Bronchiectasis
219972	MPEG1	HP:0003581	Adult onset
219972	MPEG1	HP:0100658	Cellulitis
219972	MPEG1	HP:0006510	Chronic pulmonary obstruction
219972	MPEG1	HP:0011110	Recurrent tonsillitis
220074	LRTOMT	HP:0000007	Autosomal recessive inheritance
220074	LRTOMT	HP:0003577	Congenital onset
220074	LRTOMT	HP:0008527	Congenital sensorineural hearing impairment
220074	LRTOMT	HP:0001751	Abnormal vestibular function
220074	LRTOMT	HP:0000512	Abnormal electroretinogram
220136	CFAP53	HP:0012020	Right aortic arch
220136	CFAP53	HP:0000007	Autosomal recessive inheritance
220136	CFAP53	HP:0003363	Abdominal situs inversus
220136	CFAP53	HP:0003577	Congenital onset
220136	CFAP53	HP:0004383	Hypoplastic left heart
220136	CFAP53	HP:0011579	Unbalanced atrioventricular canal defect
220136	CFAP53	HP:0011565	Common atrium
220136	CFAP53	HP:0005160	Total anomalous pulmonary venous return
220136	CFAP53	HP:0001696	Situs inversus totalis
220136	CFAP53	HP:0001669	Transposition of the great arteries
220136	CFAP53	HP:0001651	Dextrocardia
220136	CFAP53	HP:0001719	Double outlet right ventricle
220202	ATOH7	HP:0001104	Macular hypoplasia
220202	ATOH7	HP:0009926	Epiphora
220202	ATOH7	HP:0009917	Persistent pupillary membrane
220202	ATOH7	HP:0032287	Ultra-low vision with no light perception
220202	ATOH7	HP:0012043	Pendular nystagmus
220202	ATOH7	HP:0000007	Autosomal recessive inheritance
220202	ATOH7	HP:0007663	Reduced visual acuity
220202	ATOH7	HP:0012109	Angle closure glaucoma
220202	ATOH7	HP:0011885	Hemorrhage of the eye
220202	ATOH7	HP:0011886	Hyphema
220202	ATOH7	HP:0003577	Congenital onset
220202	ATOH7	HP:0010766	Ectopic calcification
220202	ATOH7	HP:0000646	Amblyopia
220202	ATOH7	HP:0000618	Blindness
220202	ATOH7	HP:0000612	Iris coloboma
220202	ATOH7	HP:0000667	Phthisis bulbi
220202	ATOH7	HP:0011484	Posterior synechiae of the anterior chamber
220202	ATOH7	HP:0030744	Hyaloid vascular remnant and retrolental mass
220202	ATOH7	HP:0030743	Glial remnants anterior to the optic disc
220202	ATOH7	HP:0008052	Retinal fold
220202	ATOH7	HP:0007899	Retinal nonattachment
220202	ATOH7	HP:0007957	Corneal opacity
220202	ATOH7	HP:0007917	Tractional retinal detachment
220202	ATOH7	HP:0007968	Remnants of the hyaloid vascular system
220202	ATOH7	HP:0000486	Strabismus
220202	ATOH7	HP:0000482	Microcornea
220202	ATOH7	HP:0000518	Cataract
220202	ATOH7	HP:0000519	Developmental cataract
220202	ATOH7	HP:0000501	Glaucoma
220202	ATOH7	HP:0000594	Shallow anterior chamber
220202	ATOH7	HP:0000557	Buphthalmos
220202	ATOH7	HP:0000554	Uveitis
220202	ATOH7	HP:0000555	Leukocoria
220202	ATOH7	HP:0000568	Microphthalmia
220202	ATOH7	HP:0000565	Esotropia
220296	HEPACAM	HP:0001276	Hypertonia
220296	HEPACAM	HP:0001272	Cerebellar atrophy
220296	HEPACAM	HP:0001270	Motor delay
220296	HEPACAM	HP:0001268	Mental deterioration
220296	HEPACAM	HP:0001256	Intellectual disability, mild
220296	HEPACAM	HP:0001250	Seizure
220296	HEPACAM	HP:0001252	Hypotonia
220296	HEPACAM	HP:0001251	Ataxia
220296	HEPACAM	HP:0001249	Intellectual disability
220296	HEPACAM	HP:0001260	Dysarthria
220296	HEPACAM	HP:0001257	Spasticity
220296	HEPACAM	HP:0007341	Diffuse swelling of cerebral white matter
220296	HEPACAM	HP:0001355	Megalencephaly
220296	HEPACAM	HP:0001344	Absent speech
220296	HEPACAM	HP:0000007	Autosomal recessive inheritance
220296	HEPACAM	HP:0000006	Autosomal dominant inheritance
220296	HEPACAM	HP:0002015	Dysphagia
220296	HEPACAM	HP:0002061	Lower limb spasticity
220296	HEPACAM	HP:0002059	Cerebral atrophy
220296	HEPACAM	HP:0002119	Ventriculomegaly
220296	HEPACAM	HP:0003593	Infantile onset
220296	HEPACAM	HP:0003577	Congenital onset
220296	HEPACAM	HP:0002344	Progressive neurologic deterioration
220296	HEPACAM	HP:0003677	Slowly progressive
220296	HEPACAM	HP:0007204	Diffuse white matter abnormalities
220296	HEPACAM	HP:0002312	Clumsiness
220296	HEPACAM	HP:0006986	Upper limb spasticity
220296	HEPACAM	HP:0006943	Diffuse spongiform leukoencephalopathy
220296	HEPACAM	HP:0000750	Delayed speech and language development
220296	HEPACAM	HP:0011463	Childhood onset
220296	HEPACAM	HP:0000256	Macrocephaly
221037	JMJD1C	HP:0001166	Arachnodactyly
221037	JMJD1C	HP:0001161	Hand polydactyly
221037	JMJD1C	HP:0001136	Retinal arteriolar tortuosity
221037	JMJD1C	HP:0002435	Meningocele
221037	JMJD1C	HP:0007302	Bipolar affective disorder
221037	JMJD1C	HP:0007271	Occipital myelomeningocele
221037	JMJD1C	HP:0002414	Spina bifida
221037	JMJD1C	HP:0001281	Tetany
221037	JMJD1C	HP:0001256	Intellectual disability, mild
221037	JMJD1C	HP:0001250	Seizure
221037	JMJD1C	HP:0001252	Hypotonia
221037	JMJD1C	HP:0001249	Intellectual disability
221037	JMJD1C	HP:0001263	Global developmental delay
221037	JMJD1C	HP:0002566	Intestinal malrotation
221037	JMJD1C	HP:0000089	Renal hypoplasia
221037	JMJD1C	HP:0000076	Vesicoureteral reflux
221037	JMJD1C	HP:0001369	Arthritis
221037	JMJD1C	HP:0000047	Hypospadias
221037	JMJD1C	HP:0000023	Inguinal hernia
221037	JMJD1C	HP:0002691	Platybasia
221037	JMJD1C	HP:0000028	Cryptorchidism
221037	JMJD1C	HP:0008872	Feeding difficulties in infancy
221037	JMJD1C	HP:0001328	Specific learning disability
221037	JMJD1C	HP:0002650	Scoliosis
221037	JMJD1C	HP:0002619	Varicose veins
221037	JMJD1C	HP:0002607	Bowel incontinence
221037	JMJD1C	HP:0000164	Abnormality of the dentition
221037	JMJD1C	HP:0000160	Narrow mouth
221037	JMJD1C	HP:0000175	Cleft palate
221037	JMJD1C	HP:0000113	Polycystic kidney dysplasia
221037	JMJD1C	HP:0000130	Abnormality of the uterus
221037	JMJD1C	HP:0002721	Immunodeficiency
221037	JMJD1C	HP:0002023	Anal atresia
221037	JMJD1C	HP:0002020	Gastroesophageal reflux
221037	JMJD1C	HP:0002019	Constipation
221037	JMJD1C	HP:0003326	Myalgia
221037	JMJD1C	HP:0002099	Asthma
221037	JMJD1C	HP:0002139	Arrhinencephaly
221037	JMJD1C	HP:0002101	Abnormal lung lobation
221037	JMJD1C	HP:0002239	Gastrointestinal hemorrhage
221037	JMJD1C	HP:0002251	Aganglionic megacolon
221037	JMJD1C	HP:0100765	Abnormality of the tonsils
221037	JMJD1C	HP:0100735	Hypertensive crisis
221037	JMJD1C	HP:0100750	Atelectasis
221037	JMJD1C	HP:0100753	Schizophrenia
221037	JMJD1C	HP:0007018	Attention deficit hyperactivity disorder
221037	JMJD1C	HP:0001051	Seborrheic dermatitis
221037	JMJD1C	HP:0001053	Hypopigmented skin patches
221037	JMJD1C	HP:0002381	Aphasia
221037	JMJD1C	HP:0001061	Acne
221037	JMJD1C	HP:0001081	Cholelithiasis
221037	JMJD1C	HP:0005562	Multiple renal cysts
221037	JMJD1C	HP:0000648	Optic atrophy
221037	JMJD1C	HP:0000627	Posterior embryotoxon
221037	JMJD1C	HP:0000600	Abnormality of the pharynx
221037	JMJD1C	HP:0000682	Abnormal dental enamel morphology
221037	JMJD1C	HP:0011324	Multiple suture craniosynostosis
221037	JMJD1C	HP:0000670	Carious teeth
221037	JMJD1C	HP:0001999	Abnormal facial shape
221037	JMJD1C	HP:0004322	Short stature
221037	JMJD1C	HP:0030680	Abnormality of cardiovascular system morphology
221037	JMJD1C	HP:0005692	Joint hyperflexibility
221037	JMJD1C	HP:0012732	Anorectal anomaly
221037	JMJD1C	HP:0000765	Abnormal thorax morphology
221037	JMJD1C	HP:0000739	Anxiety
221037	JMJD1C	HP:0000716	Depression
221037	JMJD1C	HP:0000717	Autism
221037	JMJD1C	HP:0000708	Atypical behavior
221037	JMJD1C	HP:0011496	Corneal neovascularization
221037	JMJD1C	HP:0000778	Hypoplasia of the thymus
221037	JMJD1C	HP:0000929	Abnormal skull morphology
221037	JMJD1C	HP:0000836	Hyperthyroidism
221037	JMJD1C	HP:0000829	Hypoparathyroidism
221037	JMJD1C	HP:0000821	Hypothyroidism
221037	JMJD1C	HP:0011662	Tricuspid atresia
221037	JMJD1C	HP:0000979	Purpura
221037	JMJD1C	HP:0000286	Epicanthus
221037	JMJD1C	HP:0000262	Turricephaly
221037	JMJD1C	HP:0000276	Long face
221037	JMJD1C	HP:0000272	Malar flattening
221037	JMJD1C	HP:0000238	Hydrocephalus
221037	JMJD1C	HP:0000252	Microcephaly
221037	JMJD1C	HP:0001561	Polyhydramnios
221037	JMJD1C	HP:0001537	Umbilical hernia
221037	JMJD1C	HP:0001508	Failure to thrive
221037	JMJD1C	HP:0001511	Intrauterine growth retardation
221037	JMJD1C	HP:0001513	Obesity
221037	JMJD1C	HP:0006510	Chronic pulmonary obstruction
221037	JMJD1C	HP:0000385	Small earlobe
221037	JMJD1C	HP:0000396	Overfolded helix
221037	JMJD1C	HP:0000389	Chronic otitis media
221037	JMJD1C	HP:0001601	Laryngomalacia
221037	JMJD1C	HP:0001611	Hypernasal speech
221037	JMJD1C	HP:0002901	Hypocalcemia
221037	JMJD1C	HP:0000365	Hearing impairment
221037	JMJD1C	HP:0000369	Low-set ears
221037	JMJD1C	HP:0000343	Long philtrum
221037	JMJD1C	HP:0002999	Patellar dislocation
221037	JMJD1C	HP:0000347	Micrognathia
221037	JMJD1C	HP:0012303	Abnormal aortic arch morphology
221037	JMJD1C	HP:0000316	Hypertelorism
221037	JMJD1C	HP:0001646	Abnormal aortic valve morphology
221037	JMJD1C	HP:0001643	Patent ductus arteriosus
221037	JMJD1C	HP:0001660	Truncus arteriosus
221037	JMJD1C	HP:0000322	Short philtrum
221037	JMJD1C	HP:0002960	Autoimmunity
221037	JMJD1C	HP:0001629	Ventricular septal defect
221037	JMJD1C	HP:0001641	Abnormal pulmonary valve morphology
221037	JMJD1C	HP:0001636	Tetralogy of Fallot
221037	JMJD1C	HP:0001631	Atrial septal defect
221037	JMJD1C	HP:0000405	Conductive hearing impairment
221037	JMJD1C	HP:0000486	Strabismus
221037	JMJD1C	HP:0000494	Downslanted palpebral fissures
221037	JMJD1C	HP:0000492	Abnormal eyelid morphology
221037	JMJD1C	HP:0000470	Short neck
221037	JMJD1C	HP:0000453	Choanal atresia
221037	JMJD1C	HP:0000414	Bulbous nose
221037	JMJD1C	HP:0001744	Splenomegaly
221037	JMJD1C	HP:0001762	Talipes equinovarus
221037	JMJD1C	HP:0000431	Wide nasal bridge
221037	JMJD1C	HP:0000426	Prominent nasal bridge
221037	JMJD1C	HP:0005435	Impaired T cell function
221037	JMJD1C	HP:0000518	Cataract
221037	JMJD1C	HP:0001829	Foot polydactyly
221037	JMJD1C	HP:0000506	Telecanthus
221037	JMJD1C	HP:0000508	Ptosis
221037	JMJD1C	HP:0000501	Glaucoma
221037	JMJD1C	HP:0000582	Upslanted palpebral fissure
221037	JMJD1C	HP:0000568	Microphthalmia
221037	JMJD1C	HP:0001872	Abnormality of thrombocytes
221037	JMJD1C	HP:0001873	Thrombocytopenia
221264	AK9	HP:0003722	Neck flexor weakness
221264	AK9	HP:0003803	Type 1 muscle fiber predominance
221264	AK9	HP:0410011	Abnormality of masticatory muscle
221264	AK9	HP:0001324	Muscle weakness
221264	AK9	HP:0002650	Scoliosis
221264	AK9	HP:0001315	Reduced tendon reflexes
221264	AK9	HP:0031108	Triceps weakness
221264	AK9	HP:0001446	Abnormality of the musculature of the upper limbs
221264	AK9	HP:0002792	Reduced vital capacity
221264	AK9	HP:0002091	Restrictive ventilatory defect
221264	AK9	HP:0003388	Easy fatigability
221264	AK9	HP:0003484	Upper limb muscle weakness
221264	AK9	HP:0003458	EMG: myopathic abnormalities
221264	AK9	HP:0003443	Decreased size of nerve terminals
221264	AK9	HP:0003402	Decreased miniature endplate potentials
221264	AK9	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
221264	AK9	HP:0002194	Delayed gross motor development
221264	AK9	HP:0003547	Shoulder girdle muscle weakness
221264	AK9	HP:0010628	Facial palsy
221264	AK9	HP:0002329	Drowsiness
221264	AK9	HP:0009077	Weakness of long finger extensor muscles
221264	AK9	HP:0000651	Diplopia
221264	AK9	HP:0009005	Weakness of the intrinsic hand muscles
221264	AK9	HP:0005659	Thoracic kyphoscoliosis
221264	AK9	HP:0012764	Orthopnea
221264	AK9	HP:0003202	Skeletal muscle atrophy
221264	AK9	HP:0000961	Cyanosis
221264	AK9	HP:0002878	Respiratory failure
221264	AK9	HP:0000218	High palate
221264	AK9	HP:0002875	Exertional dyspnea
221264	AK9	HP:0031374	Ankle weakness
221264	AK9	HP:0030196	Fatigable weakness of respiratory muscles
221264	AK9	HP:0030199	Fatigable weakness of neck muscles
221264	AK9	HP:0000496	Abnormality of eye movement
221264	AK9	HP:0000508	Ptosis
221264	AK9	HP:0000597	Ophthalmoparesis
221264	AK9	HP:0012515	Hip flexor weakness
221421	RSPH9	HP:0025177	Peribronchovascular interstitial thickening
221421	RSPH9	HP:0002566	Intestinal malrotation
221421	RSPH9	HP:0001217	Clubbing
221421	RSPH9	HP:0000007	Autosomal recessive inheritance
221421	RSPH9	HP:0002643	Neonatal respiratory distress
221421	RSPH9	HP:0000119	Abnormality of the genitourinary system
221421	RSPH9	HP:0032543	Lithoptysis
221421	RSPH9	HP:0031245	Productive cough
221421	RSPH9	HP:0002011	Morphological central nervous system abnormality
221421	RSPH9	HP:0100582	Nasal polyposis
221421	RSPH9	HP:0002119	Ventriculomegaly
221421	RSPH9	HP:0002110	Bronchiectasis
221421	RSPH9	HP:0008222	Female infertility
221421	RSPH9	HP:0002257	Chronic rhinitis
221421	RSPH9	HP:0003546	Exercise intolerance
221421	RSPH9	HP:0002205	Recurrent respiratory infections
221421	RSPH9	HP:0100750	Atelectasis
221421	RSPH9	HP:0032016	Abnormal sputum
221421	RSPH9	HP:0011947	Respiratory tract infection
221421	RSPH9	HP:0010772	Anomalous pulmonary venous return
221421	RSPH9	HP:0004322	Short stature
221421	RSPH9	HP:0030680	Abnormality of cardiovascular system morphology
221421	RSPH9	HP:0000750	Delayed speech and language development
221421	RSPH9	HP:0011463	Childhood onset
221421	RSPH9	HP:0000924	Abnormality of the skeletal system
221421	RSPH9	HP:0011539	Atrial situs ambiguous
221421	RSPH9	HP:0011535	Abnormal atrial arrangement
221421	RSPH9	HP:0030828	Wheezing
221421	RSPH9	HP:0003251	Male infertility
221421	RSPH9	HP:0011617	Pulmonary situs ambiguus
221421	RSPH9	HP:0033036	Decreased nasal nitric oxide
221421	RSPH9	HP:0025576	Abnormal inferior vena cava morphology
221421	RSPH9	HP:0012265	Ciliary dyskinesia
221421	RSPH9	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia
221421	RSPH9	HP:0000238	Hydrocephalus
221421	RSPH9	HP:0012206	Abnormal sperm motility
221421	RSPH9	HP:0012207	Reduced sperm motility
221421	RSPH9	HP:0012208	Immotile sperm
221421	RSPH9	HP:0002878	Respiratory failure
221421	RSPH9	HP:0006510	Chronic pulmonary obstruction
221421	RSPH9	HP:0000389	Chronic otitis media
221421	RSPH9	HP:0006536	Airway obstruction
221421	RSPH9	HP:0001696	Situs inversus totalis
221421	RSPH9	HP:0000365	Hearing impairment
221421	RSPH9	HP:0001669	Transposition of the great arteries
221421	RSPH9	HP:0031456	Ectopic pregnancy
221421	RSPH9	HP:0001627	Abnormal heart morphology
221421	RSPH9	HP:0005301	Persistent left superior vena cava
221421	RSPH9	HP:0000403	Recurrent otitis media
221421	RSPH9	HP:0000405	Conductive hearing impairment
221421	RSPH9	HP:0001719	Double outlet right ventricle
221421	RSPH9	HP:0011109	Chronic sinusitis
221421	RSPH9	HP:0001746	Asplenia
221421	RSPH9	HP:0001748	Polysplenia
221421	RSPH9	HP:0001742	Nasal congestion
221421	RSPH9	HP:0005425	Recurrent sinopulmonary infections
221421	RSPH9	HP:0011274	Recurrent mycobacterial infections
221421	RSPH9	HP:0000510	Rod-cone dystrophy
221496	LEMD2	HP:0001118	Juvenile cataract
221496	LEMD2	HP:0003758	Reduced subcutaneous adipose tissue
221496	LEMD2	HP:0001324	Muscle weakness
221496	LEMD2	HP:0000007	Autosomal recessive inheritance
221496	LEMD2	HP:0000006	Autosomal dominant inheritance
221496	LEMD2	HP:0002645	Wormian bones
221496	LEMD2	HP:0000160	Narrow mouth
221496	LEMD2	HP:0002003	Large forehead
221496	LEMD2	HP:0011800	Midface retrusion
221496	LEMD2	HP:0002080	Intention tremor
221496	LEMD2	HP:0010444	Pulmonary insufficiency
221496	LEMD2	HP:0011712	Right bundle branch block
221496	LEMD2	HP:0003429	CNS hypomyelination
221496	LEMD2	HP:0001015	Prominent superficial veins
221496	LEMD2	HP:0031846	Femur fracture
221496	LEMD2	HP:0000680	Delayed eruption of primary teeth
221496	LEMD2	HP:0000668	Hypodontia
221496	LEMD2	HP:0004322	Short stature
221496	LEMD2	HP:0004396	Poor appetite
221496	LEMD2	HP:0004349	Reduced bone mineral density
221496	LEMD2	HP:0000706	Eruption failure
221496	LEMD2	HP:0000855	Insulin resistance
221496	LEMD2	HP:0000894	Short clavicles
221496	LEMD2	HP:0030890	Hyperintensity of cerebral white matter on MRI
221496	LEMD2	HP:0011675	Arrhythmia
221496	LEMD2	HP:0005144	Ventricular septal hypertrophy
221496	LEMD2	HP:0000252	Microcephaly
221496	LEMD2	HP:0001511	Intrauterine growth retardation
221496	LEMD2	HP:0001510	Growth delay
221496	LEMD2	HP:0000347	Micrognathia
221496	LEMD2	HP:0000319	Smooth philtrum
221496	LEMD2	HP:0001645	Sudden cardiac death
221496	LEMD2	HP:0000325	Triangular face
221496	LEMD2	HP:0001788	Premature rupture of membranes
221496	LEMD2	HP:0000444	Convex nasal ridge
221496	LEMD2	HP:0000520	Proptosis
221496	LEMD2	HP:0000586	Shallow orbits
221692	PHACTR1	HP:0002421	Poor head control
221692	PHACTR1	HP:0001285	Spastic tetraparesis
221692	PHACTR1	HP:0001250	Seizure
221692	PHACTR1	HP:0001252	Hypotonia
221692	PHACTR1	HP:0001249	Intellectual disability
221692	PHACTR1	HP:0002521	Hypsarrhythmia
221692	PHACTR1	HP:0001371	Flexion contracture
221692	PHACTR1	HP:0000028	Cryptorchidism
221692	PHACTR1	HP:0000006	Autosomal dominant inheritance
221692	PHACTR1	HP:0001336	Myoclonus
221692	PHACTR1	HP:0002650	Scoliosis
221692	PHACTR1	HP:0000160	Narrow mouth
221692	PHACTR1	HP:0002120	Cerebral cortical atrophy
221692	PHACTR1	HP:0002119	Ventriculomegaly
221692	PHACTR1	HP:0002188	Delayed CNS myelination
221692	PHACTR1	HP:0200134	Epileptic encephalopathy
221692	PHACTR1	HP:0002376	Developmental regression
221692	PHACTR1	HP:0011344	Severe global developmental delay
221692	PHACTR1	HP:0000729	Autistic behavior
221692	PHACTR1	HP:0000707	Abnormality of the nervous system
221692	PHACTR1	HP:0000252	Microcephaly
221692	PHACTR1	HP:0001561	Polyhydramnios
221692	PHACTR1	HP:0011097	Epileptic spasm
221692	PHACTR1	HP:0000369	Low-set ears
221692	PHACTR1	HP:0032792	Tonic seizure
221692	PHACTR1	HP:0000316	Hypertelorism
221692	PHACTR1	HP:0012469	Infantile spasms
221692	PHACTR1	HP:0011121	Abnormality of skin morphology
221927	BRAT1	HP:0007286	Horizontal jerk nystagmus
221927	BRAT1	HP:0010851	EEG with burst suppression
221927	BRAT1	HP:0003739	Myoclonic spasms
221927	BRAT1	HP:0001276	Hypertonia
221927	BRAT1	HP:0001272	Cerebellar atrophy
221927	BRAT1	HP:0001250	Seizure
221927	BRAT1	HP:0001249	Intellectual disability
221927	BRAT1	HP:0001263	Global developmental delay
221927	BRAT1	HP:0007359	Focal-onset seizure
221927	BRAT1	HP:0002529	Neuronal loss in central nervous system
221927	BRAT1	HP:0002509	Limb hypertonia
221927	BRAT1	HP:0000023	Inguinal hernia
221927	BRAT1	HP:0001347	Hyperreflexia
221927	BRAT1	HP:0031165	Multifocal seizures
221927	BRAT1	HP:0033725	Thin corpus callosum
221927	BRAT1	HP:0001344	Absent speech
221927	BRAT1	HP:0000007	Autosomal recessive inheritance
221927	BRAT1	HP:0001337	Tremor
221927	BRAT1	HP:0001310	Dysmetria
221927	BRAT1	HP:0001317	Abnormal cerebellum morphology
221927	BRAT1	HP:0008936	Axial hypotonia
221927	BRAT1	HP:0002066	Gait ataxia
221927	BRAT1	HP:0002063	Rigidity
221927	BRAT1	HP:0002079	Hypoplasia of the corpus callosum
221927	BRAT1	HP:0002045	Hypothermia
221927	BRAT1	HP:0003487	Babinski sign
221927	BRAT1	HP:0002123	Generalized myoclonic seizure
221927	BRAT1	HP:0002104	Apnea
221927	BRAT1	HP:0002188	Delayed CNS myelination
221927	BRAT1	HP:0002169	Clonus
221927	BRAT1	HP:0002171	Gliosis
221927	BRAT1	HP:0002267	Exaggerated startle response
221927	BRAT1	HP:0003593	Infantile onset
221927	BRAT1	HP:0100704	Cerebral visual impairment
221927	BRAT1	HP:0011968	Feeding difficulties
221927	BRAT1	HP:0002384	Focal impaired awareness seizure
221927	BRAT1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
221927	BRAT1	HP:0003676	Progressive
221927	BRAT1	HP:0010804	Tented upper lip vermilion
221927	BRAT1	HP:0003623	Neonatal onset
221927	BRAT1	HP:0004209	Clinodactyly of the 5th finger
221927	BRAT1	HP:0000648	Optic atrophy
221927	BRAT1	HP:0031936	Delayed ability to walk
221927	BRAT1	HP:0000750	Delayed speech and language development
221927	BRAT1	HP:0000713	Agitation
221927	BRAT1	HP:0034392	Joint contracture
221927	BRAT1	HP:0000286	Epicanthus
221927	BRAT1	HP:0000283	Broad face
221927	BRAT1	HP:0000253	Progressive microcephaly
221927	BRAT1	HP:0000252	Microcephaly
221927	BRAT1	HP:0000218	High palate
221927	BRAT1	HP:0000233	Thin vermilion border
221927	BRAT1	HP:0032663	Focal motor status epilepticus
221927	BRAT1	HP:0001522	Death in infancy
221927	BRAT1	HP:0000343	Long philtrum
221927	BRAT1	HP:0012332	Abnormal autonomic nervous system physiology
221927	BRAT1	HP:0000347	Micrognathia
221927	BRAT1	HP:0030147	Truncal titubation
221927	BRAT1	HP:0001662	Bradycardia
221927	BRAT1	HP:0005484	Secondary microcephaly
221927	BRAT1	HP:0000505	Visual impairment
222546	RFX6	HP:0002594	Pancreatic hypoplasia
222546	RFX6	HP:0002566	Intestinal malrotation
222546	RFX6	HP:0001396	Cholestasis
222546	RFX6	HP:0000007	Autosomal recessive inheritance
222546	RFX6	HP:0002024	Malabsorption
222546	RFX6	HP:0002014	Diarrhea
222546	RFX6	HP:0005912	Biliary atresia
222546	RFX6	HP:0002245	Meckel diverticulum
222546	RFX6	HP:0003577	Congenital onset
222546	RFX6	HP:0002247	Duodenal atresia
222546	RFX6	HP:0011985	Acholic stools
222546	RFX6	HP:0003074	Hyperglycemia
222546	RFX6	HP:0011467	Absent gallbladder
222546	RFX6	HP:0000819	Diabetes mellitus
222546	RFX6	HP:0001545	Anteriorly placed anus
222546	RFX6	HP:0001541	Ascites
222546	RFX6	HP:0001511	Intrauterine growth retardation
222546	RFX6	HP:0005235	Jejunal atresia
222546	RFX6	HP:0002904	Hyperbilirubinemia
222546	RFX6	HP:0001734	Annular pancreas
222662	LHFPL5	HP:0008619	Bilateral sensorineural hearing impairment
222662	LHFPL5	HP:0000007	Autosomal recessive inheritance
222662	LHFPL5	HP:0000407	Sensorineural hearing impairment
222662	LHFPL5	HP:0001751	Abnormal vestibular function
222663	SCUBE3	HP:0001156	Brachydactyly
222663	SCUBE3	HP:0001252	Hypotonia
222663	SCUBE3	HP:0001249	Intellectual disability
222663	SCUBE3	HP:0001263	Global developmental delay
222663	SCUBE3	HP:0001387	Joint stiffness
222663	SCUBE3	HP:0001382	Joint hypermobility
222663	SCUBE3	HP:0000047	Hypospadias
222663	SCUBE3	HP:0008897	Postnatal growth retardation
222663	SCUBE3	HP:0000007	Autosomal recessive inheritance
222663	SCUBE3	HP:0002650	Scoliosis
222663	SCUBE3	HP:0000175	Cleft palate
222663	SCUBE3	HP:0006297	Enamel hypoplasia
222663	SCUBE3	HP:0002786	Tracheobronchomalacia
222663	SCUBE3	HP:0200136	Oral-pharyngeal dysphagia
222663	SCUBE3	HP:0002299	Brittle hair
222663	SCUBE3	HP:0004279	Short palm
222663	SCUBE3	HP:0000639	Nystagmus
222663	SCUBE3	HP:0000678	Dental crowding
222663	SCUBE3	HP:0000677	Oligodontia
222663	SCUBE3	HP:0011318	Bicoronal synostosis
222663	SCUBE3	HP:0000668	Hypodontia
222663	SCUBE3	HP:0030674	Antenatal onset
222663	SCUBE3	HP:0003026	Short long bone
222663	SCUBE3	HP:0003189	Long nose
222663	SCUBE3	HP:0000878	11 pairs of ribs
222663	SCUBE3	HP:0011675	Arrhythmia
222663	SCUBE3	HP:0000276	Long face
222663	SCUBE3	HP:0000252	Microcephaly
222663	SCUBE3	HP:0000201	Pierre-Robin sequence
222663	SCUBE3	HP:0001511	Intrauterine growth retardation
222663	SCUBE3	HP:0011062	Misalignment of incisors
222663	SCUBE3	HP:0000348	High forehead
222663	SCUBE3	HP:0000331	Short chin
222663	SCUBE3	HP:0000325	Triangular face
222663	SCUBE3	HP:0001655	Patent foramen ovale
222663	SCUBE3	HP:0000307	Pointed chin
222663	SCUBE3	HP:0001631	Atrial septal defect
222663	SCUBE3	HP:0000483	Astigmatism
222663	SCUBE3	HP:0000486	Strabismus
222663	SCUBE3	HP:0012471	Thick vermilion border
222663	SCUBE3	HP:0000426	Prominent nasal bridge
223117	SEMA3D	HP:0001181	Adducted thumb
223117	SEMA3D	HP:0100806	Sepsis
223117	SEMA3D	HP:0001249	Intellectual disability
223117	SEMA3D	HP:0002019	Constipation
223117	SEMA3D	HP:0002017	Nausea and vomiting
223117	SEMA3D	HP:0002027	Abdominal pain
223117	SEMA3D	HP:0002014	Diarrhea
223117	SEMA3D	HP:0002251	Aganglionic megacolon
223117	SEMA3D	HP:0200008	Intestinal polyposis
223117	SEMA3D	HP:0004322	Short stature
223117	SEMA3D	HP:0100031	Neoplasm of the thyroid gland
223117	SEMA3D	HP:0012719	Functional abnormality of the gastrointestinal tract
223117	SEMA3D	HP:0001531	Failure to thrive in infancy
223117	SEMA3D	HP:0005214	Intestinal obstruction
223117	SEMA3D	HP:0000407	Sensorineural hearing impairment
223117	SEMA3D	HP:0001824	Weight loss
246176	GAS2L2	HP:0025177	Peribronchovascular interstitial thickening
246176	GAS2L2	HP:0002566	Intestinal malrotation
246176	GAS2L2	HP:0001217	Clubbing
246176	GAS2L2	HP:0000007	Autosomal recessive inheritance
246176	GAS2L2	HP:0002643	Neonatal respiratory distress
246176	GAS2L2	HP:0000119	Abnormality of the genitourinary system
246176	GAS2L2	HP:0032543	Lithoptysis
246176	GAS2L2	HP:0031245	Productive cough
246176	GAS2L2	HP:0002011	Morphological central nervous system abnormality
246176	GAS2L2	HP:0100582	Nasal polyposis
246176	GAS2L2	HP:0002119	Ventriculomegaly
246176	GAS2L2	HP:0002110	Bronchiectasis
246176	GAS2L2	HP:0008222	Female infertility
246176	GAS2L2	HP:0002257	Chronic rhinitis
246176	GAS2L2	HP:0100750	Atelectasis
246176	GAS2L2	HP:0032016	Abnormal sputum
246176	GAS2L2	HP:0011947	Respiratory tract infection
246176	GAS2L2	HP:0010772	Anomalous pulmonary venous return
246176	GAS2L2	HP:0030680	Abnormality of cardiovascular system morphology
246176	GAS2L2	HP:0000750	Delayed speech and language development
246176	GAS2L2	HP:0000789	Infertility
246176	GAS2L2	HP:0000924	Abnormality of the skeletal system
246176	GAS2L2	HP:0011539	Atrial situs ambiguous
246176	GAS2L2	HP:0011535	Abnormal atrial arrangement
246176	GAS2L2	HP:0030828	Wheezing
246176	GAS2L2	HP:0003251	Male infertility
246176	GAS2L2	HP:0011617	Pulmonary situs ambiguus
246176	GAS2L2	HP:0025576	Abnormal inferior vena cava morphology
246176	GAS2L2	HP:0000238	Hydrocephalus
246176	GAS2L2	HP:0012206	Abnormal sperm motility
246176	GAS2L2	HP:0012208	Immotile sperm
246176	GAS2L2	HP:0002878	Respiratory failure
246176	GAS2L2	HP:0000389	Chronic otitis media
246176	GAS2L2	HP:0006536	Airway obstruction
246176	GAS2L2	HP:0001696	Situs inversus totalis
246176	GAS2L2	HP:0000365	Hearing impairment
246176	GAS2L2	HP:0001669	Transposition of the great arteries
246176	GAS2L2	HP:0031456	Ectopic pregnancy
246176	GAS2L2	HP:0001627	Abnormal heart morphology
246176	GAS2L2	HP:0005301	Persistent left superior vena cava
246176	GAS2L2	HP:0031603	Impaired nasal mucociliary clearance
246176	GAS2L2	HP:0000403	Recurrent otitis media
246176	GAS2L2	HP:0000405	Conductive hearing impairment
246176	GAS2L2	HP:0001719	Double outlet right ventricle
246176	GAS2L2	HP:0011109	Chronic sinusitis
246176	GAS2L2	HP:0011108	Recurrent sinusitis
246176	GAS2L2	HP:0001746	Asplenia
246176	GAS2L2	HP:0001748	Polysplenia
246176	GAS2L2	HP:0001742	Nasal congestion
246176	GAS2L2	HP:0005425	Recurrent sinopulmonary infections
246176	GAS2L2	HP:0011274	Recurrent mycobacterial infections
246176	GAS2L2	HP:0000510	Rod-cone dystrophy
246213	SLC17A8	HP:0000006	Autosomal dominant inheritance
246213	SLC17A8	HP:0000407	Sensorineural hearing impairment
246213	SLC17A8	HP:0001751	Abnormal vestibular function
246243	RNASEH1	HP:0007256	Abnormal pyramidal sign
246243	RNASEH1	HP:0007220	Demyelinating motor neuropathy
246243	RNASEH1	HP:0003722	Neck flexor weakness
246243	RNASEH1	HP:0003738	Exercise-induced myalgia
246243	RNASEH1	HP:0002406	Limb dysmetria
246243	RNASEH1	HP:0002403	Positive Romberg sign
246243	RNASEH1	HP:0001272	Cerebellar atrophy
246243	RNASEH1	HP:0001288	Gait disturbance
246243	RNASEH1	HP:0001251	Ataxia
246243	RNASEH1	HP:0001265	Hyporeflexia
246243	RNASEH1	HP:0001260	Dysarthria
246243	RNASEH1	HP:0007366	Atrophy/Degeneration affecting the brainstem
246243	RNASEH1	HP:0007340	Lower limb muscle weakness
246243	RNASEH1	HP:0002549	Deficit in phonologic short-term memory
246243	RNASEH1	HP:0002522	Areflexia of lower limbs
246243	RNASEH1	HP:0002505	Loss of ambulation
246243	RNASEH1	HP:0001348	Brisk reflexes
246243	RNASEH1	HP:0001347	Hyperreflexia
246243	RNASEH1	HP:0001324	Muscle weakness
246243	RNASEH1	HP:0000007	Autosomal recessive inheritance
246243	RNASEH1	HP:0001310	Dysmetria
246243	RNASEH1	HP:0002650	Scoliosis
246243	RNASEH1	HP:0001488	Bilateral ptosis
246243	RNASEH1	HP:0007663	Reduced visual acuity
246243	RNASEH1	HP:0002747	Respiratory insufficiency due to muscle weakness
246243	RNASEH1	HP:0003327	Axial muscle weakness
246243	RNASEH1	HP:0003326	Myalgia
246243	RNASEH1	HP:0002015	Dysphagia
246243	RNASEH1	HP:0100543	Cognitive impairment
246243	RNASEH1	HP:0002093	Respiratory insufficiency
246243	RNASEH1	HP:0003394	Muscle spasm
246243	RNASEH1	HP:0002076	Migraine
246243	RNASEH1	HP:0011712	Right bundle branch block
246243	RNASEH1	HP:0002141	Gait imbalance
246243	RNASEH1	HP:0003487	Babinski sign
246243	RNASEH1	HP:0002151	Increased serum lactate
246243	RNASEH1	HP:0002120	Cerebral cortical atrophy
246243	RNASEH1	HP:0002136	Broad-based gait
246243	RNASEH1	HP:0002169	Clonus
246243	RNASEH1	HP:0002172	Postural instability
246243	RNASEH1	HP:0003596	Middle age onset
246243	RNASEH1	HP:0003551	Difficulty climbing stairs
246243	RNASEH1	HP:0003546	Exercise intolerance
246243	RNASEH1	HP:0011968	Feeding difficulties
246243	RNASEH1	HP:0002361	Psychomotor deterioration
246243	RNASEH1	HP:0003690	Limb muscle weakness
246243	RNASEH1	HP:0003688	Cytochrome C oxidase-negative muscle fibers
246243	RNASEH1	HP:0003676	Progressive
246243	RNASEH1	HP:0002355	Difficulty walking
246243	RNASEH1	HP:0002317	Unsteady gait
246243	RNASEH1	HP:0009830	Peripheral neuropathy
246243	RNASEH1	HP:0007141	Sensorimotor neuropathy
246243	RNASEH1	HP:0000602	Ophthalmoplegia
246243	RNASEH1	HP:0003133	Abnormality of the spinocerebellar tracts
246243	RNASEH1	HP:0003236	Elevated circulating creatine kinase concentration
246243	RNASEH1	HP:0003202	Skeletal muscle atrophy
246243	RNASEH1	HP:0003200	Ragged-red muscle fibers
246243	RNASEH1	HP:0000218	High palate
246243	RNASEH1	HP:0001618	Dysphonia
246243	RNASEH1	HP:0030196	Fatigable weakness of respiratory muscles
246243	RNASEH1	HP:0005150	Abnormal atrioventricular conduction
246243	RNASEH1	HP:0000365	Hearing impairment
246243	RNASEH1	HP:0001638	Cardiomyopathy
246243	RNASEH1	HP:0030319	Weakness of facial musculature
246243	RNASEH1	HP:0025709	Intermediate young adult onset
246243	RNASEH1	HP:0000508	Ptosis
246243	RNASEH1	HP:0000597	Ophthalmoparesis
246243	RNASEH1	HP:0000580	Pigmentary retinopathy
246243	RNASEH1	HP:0000590	Progressive external ophthalmoplegia
246243	RNASEH1	HP:0000565	Esotropia
246329	STAC3	HP:0001270	Motor delay
246329	STAC3	HP:0001256	Intellectual disability, mild
246329	STAC3	HP:0001252	Hypotonia
246329	STAC3	HP:0001249	Intellectual disability
246329	STAC3	HP:0001265	Hyporeflexia
246329	STAC3	HP:0001260	Dysarthria
246329	STAC3	HP:0002540	Inability to walk
246329	STAC3	HP:0001371	Flexion contracture
246329	STAC3	HP:0001388	Joint laxity
246329	STAC3	HP:0000028	Cryptorchidism
246329	STAC3	HP:0012084	Abnormality of skeletal muscle fiber size
246329	STAC3	HP:0001324	Muscle weakness
246329	STAC3	HP:0000007	Autosomal recessive inheritance
246329	STAC3	HP:0002650	Scoliosis
246329	STAC3	HP:0001315	Reduced tendon reflexes
246329	STAC3	HP:0000193	Bifid uvula
246329	STAC3	HP:0001488	Bilateral ptosis
246329	STAC3	HP:0000175	Cleft palate
246329	STAC3	HP:0002751	Kyphoscoliosis
246329	STAC3	HP:0002714	Downturned corners of mouth
246329	STAC3	HP:0002020	Gastroesophageal reflux
246329	STAC3	HP:0011819	Submucous cleft soft palate
246329	STAC3	HP:0011800	Midface retrusion
246329	STAC3	HP:0002093	Respiratory insufficiency
246329	STAC3	HP:0002091	Restrictive ventilatory defect
246329	STAC3	HP:0003391	Gowers sign
246329	STAC3	HP:0002047	Malignant hyperthermia
246329	STAC3	HP:0002058	Myopathic facies
246329	STAC3	HP:0002119	Ventriculomegaly
246329	STAC3	HP:0003577	Congenital onset
246329	STAC3	HP:0010674	Abnormality of the curvature of the vertebral column
246329	STAC3	HP:0011968	Feeding difficulties
246329	STAC3	HP:0008458	Progressive congenital scoliosis
246329	STAC3	HP:0004322	Short stature
246329	STAC3	HP:0012745	Short palpebral fissure
246329	STAC3	HP:0005775	Multiple skeletal anomalies
246329	STAC3	HP:0003202	Skeletal muscle atrophy
246329	STAC3	HP:0100295	Muscle fiber atrophy
246329	STAC3	HP:0002803	Congenital contracture
246329	STAC3	HP:0002804	Arthrogryposis multiplex congenita
246329	STAC3	HP:0000252	Microcephaly
246329	STAC3	HP:0000248	Brachycephaly
246329	STAC3	HP:0000218	High palate
246329	STAC3	HP:0012385	Camptodactyly
246329	STAC3	HP:0000369	Low-set ears
246329	STAC3	HP:0000347	Micrognathia
246329	STAC3	HP:0000329	Facial hemangioma
246329	STAC3	HP:0000405	Conductive hearing impairment
246329	STAC3	HP:0000494	Downslanted palpebral fissures
246329	STAC3	HP:0001776	Bilateral talipes equinovarus
246329	STAC3	HP:0001762	Talipes equinovarus
246329	STAC3	HP:0000506	Telecanthus
246329	STAC3	HP:0000508	Ptosis
246329	STAC3	HP:0000581	Blepharophimosis
246329	STAC3	HP:0012548	Fatty replacement of skeletal muscle
253017	TECRL	HP:0001279	Syncope
253017	TECRL	HP:0000007	Autosomal recessive inheritance
253017	TECRL	HP:0004756	Ventricular tachycardia
253017	TECRL	HP:0004751	Paroxysmal ventricular tachycardia
253017	TECRL	HP:0002321	Vertigo
253017	TECRL	HP:0003621	Juvenile onset
253017	TECRL	HP:0034040	Bidirectional ventricular tachycardia
253017	TECRL	HP:0001962	Palpitations
253017	TECRL	HP:0011463	Childhood onset
253017	TECRL	HP:0011462	Young adult onset
253017	TECRL	HP:0005184	Prolonged QTc interval
253017	TECRL	HP:0001695	Cardiac arrest
253017	TECRL	HP:0001699	Sudden death
253017	TECRL	HP:0001645	Sudden cardiac death
253017	TECRL	HP:0001663	Ventricular fibrillation
253017	TECRL	HP:0001657	Prolonged QT interval
253017	TECRL	HP:0006682	Premature ventricular contraction
253017	TECRL	HP:0031677	Polymorphic ventricular tachycardia
253738	EBF3	HP:0001182	Tapered finger
253738	EBF3	HP:0010862	Delayed fine motor development
253738	EBF3	HP:0002421	Poor head control
253738	EBF3	HP:0001290	Generalized hypotonia
253738	EBF3	HP:0001272	Cerebellar atrophy
253738	EBF3	HP:0001270	Motor delay
253738	EBF3	HP:0001250	Seizure
253738	EBF3	HP:0001251	Ataxia
253738	EBF3	HP:0001249	Intellectual disability
253738	EBF3	HP:0001260	Dysarthria
253738	EBF3	HP:0001263	Global developmental delay
253738	EBF3	HP:0000076	Vesicoureteral reflux
253738	EBF3	HP:0000054	Micropenis
253738	EBF3	HP:0000028	Cryptorchidism
253738	EBF3	HP:0000006	Autosomal dominant inheritance
253738	EBF3	HP:0001310	Dysmetria
253738	EBF3	HP:0001320	Cerebellar vermis hypoplasia
253738	EBF3	HP:0000179	Thick lower lip vermilion
253738	EBF3	HP:0008947	Infantile muscular hypotonia
253738	EBF3	HP:0008936	Axial hypotonia
253738	EBF3	HP:0002714	Downturned corners of mouth
253738	EBF3	HP:0002020	Gastroesophageal reflux
253738	EBF3	HP:0002002	Deep philtrum
253738	EBF3	HP:0002015	Dysphagia
253738	EBF3	HP:0002066	Gait ataxia
253738	EBF3	HP:0002078	Truncal ataxia
253738	EBF3	HP:0002058	Myopathic facies
253738	EBF3	HP:0002136	Broad-based gait
253738	EBF3	HP:0011822	Broad chin
253738	EBF3	HP:0003593	Infantile onset
253738	EBF3	HP:0007021	Pain insensitivity
253738	EBF3	HP:0003623	Neonatal onset
253738	EBF3	HP:0000664	Synophrys
253738	EBF3	HP:0004322	Short stature
253738	EBF3	HP:0031936	Delayed ability to walk
253738	EBF3	HP:0000750	Delayed speech and language development
253738	EBF3	HP:0003186	Inverted nipples
253738	EBF3	HP:0000276	Long face
253738	EBF3	HP:0000268	Dolichocephaly
253738	EBF3	HP:0000252	Microcephaly
253738	EBF3	HP:0000219	Thin upper lip vermilion
253738	EBF3	HP:0000215	Thick upper lip vermilion
253738	EBF3	HP:0001562	Oligohydramnios
253738	EBF3	HP:0001558	Decreased fetal movement
253738	EBF3	HP:0011098	Speech apraxia
253738	EBF3	HP:0000385	Small earlobe
253738	EBF3	HP:0000396	Overfolded helix
253738	EBF3	HP:0000358	Posteriorly rotated ears
253738	EBF3	HP:0000369	Low-set ears
253738	EBF3	HP:0000337	Broad forehead
253738	EBF3	HP:0000348	High forehead
253738	EBF3	HP:0000319	Smooth philtrum
253738	EBF3	HP:0000316	Hypertelorism
253738	EBF3	HP:0000331	Short chin
253738	EBF3	HP:0000325	Triangular face
253738	EBF3	HP:0000300	Oval face
253738	EBF3	HP:0030319	Weakness of facial musculature
253738	EBF3	HP:0000483	Astigmatism
253738	EBF3	HP:0000486	Strabismus
253738	EBF3	HP:0000494	Downslanted palpebral fissures
253738	EBF3	HP:0000490	Deeply set eye
253738	EBF3	HP:0000463	Anteverted nares
253738	EBF3	HP:0000455	Broad nasal tip
253738	EBF3	HP:0000426	Prominent nasal bridge
253738	EBF3	HP:0000582	Upslanted palpebral fissure
253738	EBF3	HP:0011228	Horizontal eyebrow
253738	EBF3	HP:0011220	Prominent forehead
253738	EBF3	HP:0000574	Thick eyebrow
253738	EBF3	HP:0000537	Epicanthus inversus
253827	MSRB3	HP:0000007	Autosomal recessive inheritance
253827	MSRB3	HP:0003577	Congenital onset
253827	MSRB3	HP:0000365	Hearing impairment
253827	MSRB3	HP:0000510	Rod-cone dystrophy
253959	RALGAPA1	HP:0009890	High anterior hairline
253959	RALGAPA1	HP:0002421	Poor head control
253959	RALGAPA1	HP:0001270	Motor delay
253959	RALGAPA1	HP:0001252	Hypotonia
253959	RALGAPA1	HP:0001257	Spasticity
253959	RALGAPA1	HP:0000076	Vesicoureteral reflux
253959	RALGAPA1	HP:0001344	Absent speech
253959	RALGAPA1	HP:0000007	Autosomal recessive inheritance
253959	RALGAPA1	HP:0002643	Neonatal respiratory distress
253959	RALGAPA1	HP:0000154	Wide mouth
253959	RALGAPA1	HP:0002779	Tracheomalacia
253959	RALGAPA1	HP:0002079	Hypoplasia of the corpus callosum
253959	RALGAPA1	HP:0002059	Cerebral atrophy
253959	RALGAPA1	HP:0100704	Cerebral visual impairment
253959	RALGAPA1	HP:0002282	Gray matter heterotopia
253959	RALGAPA1	HP:0010808	Protruding tongue
253959	RALGAPA1	HP:0011344	Severe global developmental delay
253959	RALGAPA1	HP:0011471	Gastrostomy tube feeding in infancy
253959	RALGAPA1	HP:0004429	Recurrent viral infections
253959	RALGAPA1	HP:0000958	Dry skin
253959	RALGAPA1	HP:0000294	Low anterior hairline
253959	RALGAPA1	HP:0000248	Brachycephaly
253959	RALGAPA1	HP:0000212	Gingival overgrowth
253959	RALGAPA1	HP:0001601	Laryngomalacia
253959	RALGAPA1	HP:0000369	Low-set ears
253959	RALGAPA1	HP:0001622	Premature birth
253959	RALGAPA1	HP:0005280	Depressed nasal bridge
253959	RALGAPA1	HP:0012469	Infantile spasms
253959	RALGAPA1	HP:0000490	Deeply set eye
253959	RALGAPA1	HP:0000463	Anteverted nares
253959	RALGAPA1	HP:0005469	Flat occiput
253959	RALGAPA1	HP:0000518	Cataract
253959	RALGAPA1	HP:0011228	Horizontal eyebrow
253959	RALGAPA1	HP:0000574	Thick eyebrow
254065	BRWD3	HP:0001256	Intellectual disability, mild
254065	BRWD3	HP:0001252	Hypotonia
254065	BRWD3	HP:0001249	Intellectual disability
254065	BRWD3	HP:0000028	Cryptorchidism
254065	BRWD3	HP:0001419	X-linked recessive inheritance
254065	BRWD3	HP:0002007	Frontal bossing
254065	BRWD3	HP:0003593	Infantile onset
254065	BRWD3	HP:0003577	Congenital onset
254065	BRWD3	HP:0000750	Delayed speech and language development
254065	BRWD3	HP:0000256	Macrocephaly
254065	BRWD3	HP:0000276	Long face
254065	BRWD3	HP:0000378	Cupped ear
254065	BRWD3	HP:0000400	Macrotia
254065	BRWD3	HP:0001763	Pes planus
254065	BRWD3	HP:0011220	Prominent forehead
254394	MCM9	HP:0000007	Autosomal recessive inheritance
254394	MCM9	HP:0002750	Delayed skeletal maturation
254394	MCM9	HP:0008232	Elevated circulating follicle stimulating hormone level
254394	MCM9	HP:0008214	Decreased serum estradiol
254394	MCM9	HP:0003621	Juvenile onset
254394	MCM9	HP:0004325	Decreased body weight
254394	MCM9	HP:0004322	Short stature
254394	MCM9	HP:0000786	Primary amenorrhea
254428	SLC41A1	HP:0003774	Stage 5 chronic kidney disease
254428	SLC41A1	HP:0000083	Renal insufficiency
254428	SLC41A1	HP:0000007	Autosomal recessive inheritance
254428	SLC41A1	HP:0032417	Periglomerular fibrosis
254428	SLC41A1	HP:0032622	Tubular luminal dilatation
254428	SLC41A1	HP:0000103	Polyuria
254428	SLC41A1	HP:0002113	Pulmonary infiltrates
254428	SLC41A1	HP:0002110	Bronchiectasis
254428	SLC41A1	HP:0003593	Infantile onset
254428	SLC41A1	HP:0002205	Recurrent respiratory infections
254428	SLC41A1	HP:0001959	Polydipsia
254428	SLC41A1	HP:0001954	Recurrent fever
254428	SLC41A1	HP:0012735	Cough
254428	SLC41A1	HP:0003259	Elevated circulating creatinine concentration
254528	MEIOB	HP:0008734	Decreased testicular size
254528	MEIOB	HP:0008669	Abnormal spermatogenesis
254528	MEIOB	HP:0000027	Azoospermia
254528	MEIOB	HP:0000007	Autosomal recessive inheritance
254528	MEIOB	HP:0000118	Phenotypic abnormality
254528	MEIOB	HP:0030974	Cryptozoospermia
254528	MEIOB	HP:0011961	Non-obstructive azoospermia
254528	MEIOB	HP:0011962	Obstructive azoospermia
254528	MEIOB	HP:0011462	Young adult onset
254528	MEIOB	HP:0000837	Increased circulating gonadotropin level
254528	MEIOB	HP:0003251	Male infertility
255101	CFAP65	HP:0000007	Autosomal recessive inheritance
255101	CFAP65	HP:0032558	Absent sperm flagella
255101	CFAP65	HP:0032559	Short sperm flagella
255101	CFAP65	HP:0032560	Coiled sperm flagella
255101	CFAP65	HP:0000798	Oligospermia
255101	CFAP65	HP:0003251	Male infertility
255101	CFAP65	HP:0012208	Immotile sperm
255738	PCSK9	HP:0001138	Optic neuropathy
255738	PCSK9	HP:0001114	Xanthelasma
255738	PCSK9	HP:0010874	Tendon xanthomatosis
255738	PCSK9	HP:0001397	Hepatic steatosis
255738	PCSK9	HP:0000006	Autosomal dominant inheritance
255738	PCSK9	HP:0002094	Dyspnea
255738	PCSK9	HP:0007201	Cerebral artery atherosclerosis
255738	PCSK9	HP:0001084	Corneal arcus
255738	PCSK9	HP:0004963	Calcification of the aorta
255738	PCSK9	HP:0004950	Peripheral arterial stenosis
255738	PCSK9	HP:0031886	Abnormal LDL cholesterol concentration
255738	PCSK9	HP:0001920	Renal artery stenosis
255738	PCSK9	HP:0012638	Abnormal nervous system physiology
255738	PCSK9	HP:0003077	Hyperlipidemia
255738	PCSK9	HP:0004381	Supravalvular aortic stenosis
255738	PCSK9	HP:0000799	Renal steatosis
255738	PCSK9	HP:0003124	Hypercholesterolemia
255738	PCSK9	HP:0004416	Precocious atherosclerosis
255738	PCSK9	HP:0003141	Increased LDL cholesterol concentration
255738	PCSK9	HP:0000822	Hypertension
255738	PCSK9	HP:0030882	Coronary artery aneurysm
255738	PCSK9	HP:0100261	Abnormal tendon morphology
255738	PCSK9	HP:0000991	Xanthomatosis
255738	PCSK9	HP:0002829	Arthralgia
255738	PCSK9	HP:0012397	Aortic atherosclerotic lesion
255738	PCSK9	HP:0012373	Abnormal eye physiology
255738	PCSK9	HP:0005177	Premature arteriosclerosis
255738	PCSK9	HP:0005181	Premature coronary artery atherosclerosis
255738	PCSK9	HP:0005162	Abnormal left ventricular function
255738	PCSK9	HP:0001681	Angina pectoris
255738	PCSK9	HP:0001677	Coronary artery atherosclerosis
255738	PCSK9	HP:0001645	Sudden cardiac death
255738	PCSK9	HP:0030148	Heart murmur
255738	PCSK9	HP:0001658	Myocardial infarction
255738	PCSK9	HP:0001653	Mitral regurgitation
255738	PCSK9	HP:0006693	Myocardial steatosis
255738	PCSK9	HP:3000062	Abnormal internal carotid artery morphology
255758	DYNLT2B	HP:0001156	Brachydactyly
255758	DYNLT2B	HP:0001162	Postaxial hand polydactyly
255758	DYNLT2B	HP:0000007	Autosomal recessive inheritance
255758	DYNLT2B	HP:0010454	Acetabular spurs
255758	DYNLT2B	HP:0003577	Congenital onset
255758	DYNLT2B	HP:0004322	Short stature
255758	DYNLT2B	HP:0000774	Narrow chest
255758	DYNLT2B	HP:0000773	Short ribs
255758	DYNLT2B	HP:0000888	Horizontal ribs
255758	DYNLT2B	HP:0000895	Lateral clavicle hook
255758	DYNLT2B	HP:0034374	Trident acetabulum
255758	DYNLT2B	HP:0001522	Death in infancy
255758	DYNLT2B	HP:0001830	Postaxial foot polydactyly
255928	SYT14	HP:0001272	Cerebellar atrophy
255928	SYT14	HP:0001288	Gait disturbance
255928	SYT14	HP:0001251	Ataxia
255928	SYT14	HP:0001249	Intellectual disability
255928	SYT14	HP:0001260	Dysarthria
255928	SYT14	HP:0001263	Global developmental delay
255928	SYT14	HP:0000007	Autosomal recessive inheritance
255928	SYT14	HP:0002015	Dysphagia
255928	SYT14	HP:0002078	Truncal ataxia
255928	SYT14	HP:0002070	Limb ataxia
255928	SYT14	HP:0003677	Slowly progressive
255928	SYT14	HP:0002317	Unsteady gait
255928	SYT14	HP:0006855	Cerebellar vermis atrophy
255928	SYT14	HP:0000639	Nystagmus
255928	SYT14	HP:0000617	Abnormality of ocular smooth pursuit
255928	SYT14	HP:0011463	Childhood onset
255928	SYT14	HP:0007772	Impaired smooth pursuit
255928	SYT14	HP:0007979	Gaze-evoked horizontal nystagmus
256297	PTF1A	HP:0003758	Reduced subcutaneous adipose tissue
256297	PTF1A	HP:0100800	Aplasia/Hypoplasia of the pancreas
256297	PTF1A	HP:0100801	Pancreatic aplasia
256297	PTF1A	HP:0001250	Seizure
256297	PTF1A	HP:0001265	Hyporeflexia
256297	PTF1A	HP:0002594	Pancreatic hypoplasia
256297	PTF1A	HP:0002570	Steatorrhea
256297	PTF1A	HP:0001371	Flexion contracture
256297	PTF1A	HP:0001387	Joint stiffness
256297	PTF1A	HP:0008846	Severe intrauterine growth retardation
256297	PTF1A	HP:0000007	Autosomal recessive inheritance
256297	PTF1A	HP:0001321	Cerebellar hypoplasia
256297	PTF1A	HP:0002104	Apnea
256297	PTF1A	HP:0010557	Overlapping fingers
256297	PTF1A	HP:0003593	Infantile onset
256297	PTF1A	HP:0002335	Agenesis of cerebellar vermis
256297	PTF1A	HP:0003623	Neonatal onset
256297	PTF1A	HP:0003621	Juvenile onset
256297	PTF1A	HP:0001943	Hypoglycemia
256297	PTF1A	HP:0000609	Optic nerve hypoplasia
256297	PTF1A	HP:0001903	Anemia
256297	PTF1A	HP:0011342	Mild global developmental delay
256297	PTF1A	HP:0012642	Cerebellar agenesis
256297	PTF1A	HP:0003074	Hyperglycemia
256297	PTF1A	HP:0000768	Pectus carinatum
256297	PTF1A	HP:0011462	Young adult onset
256297	PTF1A	HP:0000857	Neonatal insulin-dependent diabetes mellitus
256297	PTF1A	HP:0000819	Diabetes mellitus
256297	PTF1A	HP:0000252	Microcephaly
256297	PTF1A	HP:0001522	Death in infancy
256297	PTF1A	HP:0001508	Failure to thrive
256297	PTF1A	HP:0001518	Small for gestational age
256297	PTF1A	HP:0000377	Abnormal pinna morphology
256297	PTF1A	HP:0000369	Low-set ears
256297	PTF1A	HP:0001684	Secundum atrial septal defect
256297	PTF1A	HP:0000331	Short chin
256297	PTF1A	HP:0000325	Triangular face
256297	PTF1A	HP:0001738	Exocrine pancreatic insufficiency
256297	PTF1A	HP:0000444	Convex nasal ridge
256471	MFSD8	HP:0001272	Cerebellar atrophy
256471	MFSD8	HP:0001268	Mental deterioration
256471	MFSD8	HP:0001251	Ataxia
256471	MFSD8	HP:0001263	Global developmental delay
256471	MFSD8	HP:0000007	Autosomal recessive inheritance
256471	MFSD8	HP:0007663	Reduced visual acuity
256471	MFSD8	HP:0002059	Cerebral atrophy
256471	MFSD8	HP:0002123	Generalized myoclonic seizure
256471	MFSD8	HP:0002180	Neurodegeneration
256471	MFSD8	HP:0003596	Middle age onset
256471	MFSD8	HP:0002360	Sleep disturbance
256471	MFSD8	HP:0002353	EEG abnormality
256471	MFSD8	HP:0003678	Rapidly progressive
256471	MFSD8	HP:0003621	Juvenile onset
256471	MFSD8	HP:0000648	Optic atrophy
256471	MFSD8	HP:0000642	Red-green dyschromatopsia
256471	MFSD8	HP:0000618	Blindness
256471	MFSD8	HP:0000603	Central scotoma
256471	MFSD8	HP:0030629	Perifoveal ring of hyperautofluorescence
256471	MFSD8	HP:0000750	Delayed speech and language development
256471	MFSD8	HP:0011504	Bull's eye maculopathy
256471	MFSD8	HP:0007754	Macular dystrophy
256471	MFSD8	HP:0011003	High myopia
256471	MFSD8	HP:0000488	Retinopathy
256471	MFSD8	HP:0025710	Late young adult onset
256471	MFSD8	HP:0000505	Visual impairment
256471	MFSD8	HP:0000580	Pigmentary retinopathy
256471	MFSD8	HP:0000572	Visual loss
256471	MFSD8	HP:0000543	Optic disc pallor
256646	NUTM1	HP:0002664	Neoplasm
256646	NUTM1	HP:0012182	Oropharyngeal squamous cell carcinoma
256646	NUTM1	HP:0012142	Pancreatic squamous cell carcinoma
256646	NUTM1	HP:0100757	Pancreatoblastoma
256646	NUTM1	HP:0001909	Leukemia
256646	NUTM1	HP:0003006	Neuroblastoma
256646	NUTM1	HP:0045026	Abnormal mediastinum morphology
256646	NUTM1	HP:0012254	Ewing sarcoma
256646	NUTM1	HP:0002860	Squamous cell carcinoma
256764	WDR72	HP:0000007	Autosomal recessive inheritance
256764	WDR72	HP:0006285	Enamel hypomineralization
256764	WDR72	HP:0000705	Amelogenesis imperfecta
256764	WDR72	HP:0011085	Hypomature dental enamel
259232	NALCN	HP:0001181	Adducted thumb
259232	NALCN	HP:0001166	Arachnodactyly
259232	NALCN	HP:0002465	Poor speech
259232	NALCN	HP:0100963	Hyperesthesia
259232	NALCN	HP:0009931	Enlarged naris
259232	NALCN	HP:0007256	Abnormal pyramidal sign
259232	NALCN	HP:0010864	Intellectual disability, severe
259232	NALCN	HP:0009884	Tapered distal phalanges of finger
259232	NALCN	HP:0001272	Cerebellar atrophy
259232	NALCN	HP:0001270	Motor delay
259232	NALCN	HP:0100830	Round ear
259232	NALCN	HP:0001250	Seizure
259232	NALCN	HP:0001252	Hypotonia
259232	NALCN	HP:0001263	Global developmental delay
259232	NALCN	HP:0002510	Spastic tetraplegia
259232	NALCN	HP:0001387	Joint stiffness
259232	NALCN	HP:0000023	Inguinal hernia
259232	NALCN	HP:0001347	Hyperreflexia
259232	NALCN	HP:0001357	Plagiocephaly
259232	NALCN	HP:0000028	Cryptorchidism
259232	NALCN	HP:0008897	Postnatal growth retardation
259232	NALCN	HP:0008872	Feeding difficulties in infancy
259232	NALCN	HP:0001344	Absent speech
259232	NALCN	HP:0000007	Autosomal recessive inheritance
259232	NALCN	HP:0000006	Autosomal dominant inheritance
259232	NALCN	HP:0002650	Scoliosis
259232	NALCN	HP:0001319	Neonatal hypotonia
259232	NALCN	HP:0002643	Neonatal respiratory distress
259232	NALCN	HP:0000164	Abnormality of the dentition
259232	NALCN	HP:0000160	Narrow mouth
259232	NALCN	HP:0000154	Wide mouth
259232	NALCN	HP:0008947	Infantile muscular hypotonia
259232	NALCN	HP:0008936	Axial hypotonia
259232	NALCN	HP:0007598	Bilateral single transverse palmar creases
259232	NALCN	HP:0002020	Gastroesophageal reflux
259232	NALCN	HP:0002019	Constipation
259232	NALCN	HP:0002000	Short columella
259232	NALCN	HP:0002007	Frontal bossing
259232	NALCN	HP:0002093	Respiratory insufficiency
259232	NALCN	HP:0002079	Hypoplasia of the corpus callosum
259232	NALCN	HP:0002047	Malignant hyperthermia
259232	NALCN	HP:0002059	Cerebral atrophy
259232	NALCN	HP:0009465	Ulnar deviation of finger
259232	NALCN	HP:0010489	Absent palmar crease
259232	NALCN	HP:0003458	EMG: myopathic abnormalities
259232	NALCN	HP:0003431	Decreased motor nerve conduction velocity
259232	NALCN	HP:0003422	Vertebral segmentation defect
259232	NALCN	HP:0002167	Abnormality of speech or vocalization
259232	NALCN	HP:0100490	Camptodactyly of finger
259232	NALCN	HP:0010557	Overlapping fingers
259232	NALCN	HP:0011824	Chin with H-shaped crease
259232	NALCN	HP:0003577	Congenital onset
259232	NALCN	HP:0100716	Self-injurious behavior
259232	NALCN	HP:0100790	Hernia
259232	NALCN	HP:0008368	Tarsal synostosis
259232	NALCN	HP:0011968	Feeding difficulties
259232	NALCN	HP:0002360	Sleep disturbance
259232	NALCN	HP:0002376	Developmental regression
259232	NALCN	HP:0003676	Progressive
259232	NALCN	HP:0002353	EEG abnormality
259232	NALCN	HP:0100660	Dyskinesia
259232	NALCN	HP:0010804	Tented upper lip vermilion
259232	NALCN	HP:0200055	Small hand
259232	NALCN	HP:0010751	Dimple chin
259232	NALCN	HP:0002307	Drooling
259232	NALCN	HP:0000639	Nystagmus
259232	NALCN	HP:0000648	Optic atrophy
259232	NALCN	HP:0001999	Abnormal facial shape
259232	NALCN	HP:0004322	Short stature
259232	NALCN	HP:0004326	Cachexia
259232	NALCN	HP:0003049	Ulnar deviation of the wrist
259232	NALCN	HP:0100024	Conspicuously happy disposition
259232	NALCN	HP:0000768	Pectus carinatum
259232	NALCN	HP:0000750	Delayed speech and language development
259232	NALCN	HP:0011470	Nasogastric tube feeding in infancy
259232	NALCN	HP:0003196	Short nose
259232	NALCN	HP:0000878	11 pairs of ribs
259232	NALCN	HP:0003202	Skeletal muscle atrophy
259232	NALCN	HP:0034392	Joint contracture
259232	NALCN	HP:0003273	Hip contracture
259232	NALCN	HP:0003272	Abnormal hip bone morphology
259232	NALCN	HP:0000293	Full cheeks
259232	NALCN	HP:0000275	Narrow face
259232	NALCN	HP:0002803	Congenital contracture
259232	NALCN	HP:0006380	Knee flexion contracture
259232	NALCN	HP:0000252	Microcephaly
259232	NALCN	HP:0000248	Brachycephaly
259232	NALCN	HP:0000219	Thin upper lip vermilion
259232	NALCN	HP:0000218	High palate
259232	NALCN	HP:0001562	Oligohydramnios
259232	NALCN	HP:0001561	Polyhydramnios
259232	NALCN	HP:0001557	Prenatal movement abnormality
259232	NALCN	HP:0001525	Severe failure to thrive
259232	NALCN	HP:0002870	Obstructive sleep apnea
259232	NALCN	HP:0001537	Umbilical hernia
259232	NALCN	HP:0000205	Pursed lips
259232	NALCN	HP:0001508	Failure to thrive
259232	NALCN	HP:0001511	Intrauterine growth retardation
259232	NALCN	HP:0001510	Growth delay
259232	NALCN	HP:0006501	Aplasia/Hypoplasia of the radius
259232	NALCN	HP:0012385	Camptodactyly
259232	NALCN	HP:0001611	Hypernasal speech
259232	NALCN	HP:0000365	Hearing impairment
259232	NALCN	HP:0000369	Low-set ears
259232	NALCN	HP:0000368	Low-set, posteriorly rotated ears
259232	NALCN	HP:0000343	Long philtrum
259232	NALCN	HP:0000347	Micrognathia
259232	NALCN	HP:0000319	Smooth philtrum
259232	NALCN	HP:0000316	Hypertelorism
259232	NALCN	HP:0002987	Elbow flexion contracture
259232	NALCN	HP:0000322	Short philtrum
259232	NALCN	HP:0000325	Triangular face
259232	NALCN	HP:0000400	Macrotia
259232	NALCN	HP:0005272	Prominent nasolabial fold
259232	NALCN	HP:0000486	Strabismus
259232	NALCN	HP:0000494	Downslanted palpebral fissures
259232	NALCN	HP:0000490	Deeply set eye
259232	NALCN	HP:0000463	Anteverted nares
259232	NALCN	HP:0000457	Depressed nasal ridge
259232	NALCN	HP:0000470	Short neck
259232	NALCN	HP:0000465	Webbed neck
259232	NALCN	HP:0000417	Slender nose
259232	NALCN	HP:0000411	Protruding ear
259232	NALCN	HP:0001762	Talipes equinovarus
259232	NALCN	HP:0000431	Wide nasal bridge
259232	NALCN	HP:0000430	Underdeveloped nasal alae
259232	NALCN	HP:0000426	Prominent nasal bridge
259232	NALCN	HP:0001848	Calcaneovalgus deformity
259232	NALCN	HP:0001840	Metatarsus adductus
259232	NALCN	HP:0001838	Rocker bottom foot
259232	NALCN	HP:0000508	Ptosis
259232	NALCN	HP:0011220	Prominent forehead
259232	NALCN	HP:0000565	Esotropia
259232	NALCN	HP:0001883	Talipes
259236	TMIE	HP:0000007	Autosomal recessive inheritance
259236	TMIE	HP:0011390	Morphological abnormality of the inner ear
259236	TMIE	HP:0000365	Hearing impairment
259266	ASPM	HP:0002472	Small cerebral cortex
259266	ASPM	HP:0010864	Intellectual disability, severe
259266	ASPM	HP:0009879	Simplified gyral pattern
259266	ASPM	HP:0001274	Agenesis of corpus callosum
259266	ASPM	HP:0001270	Motor delay
259266	ASPM	HP:0001250	Seizure
259266	ASPM	HP:0001249	Intellectual disability
259266	ASPM	HP:0001263	Global developmental delay
259266	ASPM	HP:0007333	Hypoplasia of the frontal lobes
259266	ASPM	HP:0002539	Cortical dysplasia
259266	ASPM	HP:0002553	Highly arched eyebrow
259266	ASPM	HP:0000076	Vesicoureteral reflux
259266	ASPM	HP:0001347	Hyperreflexia
259266	ASPM	HP:0000007	Autosomal recessive inheritance
259266	ASPM	HP:0001302	Pachygyria
259266	ASPM	HP:0001321	Cerebellar hypoplasia
259266	ASPM	HP:0000122	Unilateral renal agenesis
259266	ASPM	HP:0002079	Hypoplasia of the corpus callosum
259266	ASPM	HP:0002119	Ventriculomegaly
259266	ASPM	HP:0003577	Congenital onset
259266	ASPM	HP:0002282	Gray matter heterotopia
259266	ASPM	HP:0007018	Attention deficit hyperactivity disorder
259266	ASPM	HP:0004322	Short stature
259266	ASPM	HP:0000750	Delayed speech and language development
259266	ASPM	HP:0003103	Abnormal cortical bone morphology
259266	ASPM	HP:0000252	Microcephaly
259266	ASPM	HP:0000219	Thin upper lip vermilion
259266	ASPM	HP:0001510	Growth delay
259266	ASPM	HP:0000365	Hearing impairment
259266	ASPM	HP:0000341	Narrow forehead
259266	ASPM	HP:0000340	Sloping forehead
259266	ASPM	HP:0005469	Flat occiput
259266	ASPM	HP:0000520	Proptosis
259266	ASPM	HP:0000582	Upslanted palpebral fissure
261734	NPHP4	HP:0001141	Severely reduced visual acuity
261734	NPHP4	HP:0003774	Stage 5 chronic kidney disease
261734	NPHP4	HP:0001251	Ataxia
261734	NPHP4	HP:0001263	Global developmental delay
261734	NPHP4	HP:0000090	Nephronophthisis
261734	NPHP4	HP:0000092	Renal tubular atrophy
261734	NPHP4	HP:0000007	Autosomal recessive inheritance
261734	NPHP4	HP:0002612	Congenital hepatic fibrosis
261734	NPHP4	HP:0000108	Renal corticomedullary cysts
261734	NPHP4	HP:0000103	Polyuria
261734	NPHP4	HP:0008209	Premature ovarian insufficiency
261734	NPHP4	HP:0010579	Cone-shaped epiphysis
261734	NPHP4	HP:0005576	Tubulointerstitial fibrosis
261734	NPHP4	HP:0012622	Chronic kidney disease
261734	NPHP4	HP:0000646	Amblyopia
261734	NPHP4	HP:0001959	Polydipsia
261734	NPHP4	HP:0001903	Anemia
261734	NPHP4	HP:0004322	Short stature
261734	NPHP4	HP:0004348	Abnormality of bone mineral density
261734	NPHP4	HP:0000822	Hypertension
261734	NPHP4	HP:0007703	Abnormality of retinal pigmentation
261734	NPHP4	HP:0001583	Rotary nystagmus
261734	NPHP4	HP:0001510	Growth delay
261734	NPHP4	HP:0000518	Cataract
261734	NPHP4	HP:0000510	Rod-cone dystrophy
261734	NPHP4	HP:0000529	Progressive visual loss
261734	NPHP4	HP:0000505	Visual impairment
261734	NPHP4	HP:0000556	Retinal dystrophy
267010	RNU12	HP:0001272	Cerebellar atrophy
267010	RNU12	HP:0001273	Abnormal corpus callosum morphology
267010	RNU12	HP:0001260	Dysarthria
267010	RNU12	HP:0001263	Global developmental delay
267010	RNU12	HP:0000047	Hypospadias
267010	RNU12	HP:0002697	Parietal foramina
267010	RNU12	HP:0000007	Autosomal recessive inheritance
267010	RNU12	HP:0000175	Cleft palate
267010	RNU12	HP:0000143	Rectovaginal fistula
267010	RNU12	HP:0025407	Rectourethral fistula
267010	RNU12	HP:0001410	Decreased liver function
267010	RNU12	HP:0002023	Anal atresia
267010	RNU12	HP:0002007	Frontal bossing
267010	RNU12	HP:0011800	Midface retrusion
267010	RNU12	HP:0002080	Intention tremor
267010	RNU12	HP:0002066	Gait ataxia
267010	RNU12	HP:0002120	Cerebral cortical atrophy
267010	RNU12	HP:0002136	Broad-based gait
267010	RNU12	HP:0002194	Delayed gross motor development
267010	RNU12	HP:0003577	Congenital onset
267010	RNU12	HP:0002209	Sparse scalp hair
267010	RNU12	HP:0007010	Poor fine motor coordination
267010	RNU12	HP:0002359	Frequent falls
267010	RNU12	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
267010	RNU12	HP:0002355	Difficulty walking
267010	RNU12	HP:0200044	Porokeratosis
267010	RNU12	HP:0006855	Cerebellar vermis atrophy
267010	RNU12	HP:0000639	Nystagmus
267010	RNU12	HP:0009062	Infantile axial hypotonia
267010	RNU12	HP:0000656	Ectropion
267010	RNU12	HP:0000653	Sparse eyelashes
267010	RNU12	HP:0000773	Short ribs
267010	RNU12	HP:0012759	Neurodevelopmental abnormality
267010	RNU12	HP:0004443	Lambdoidal craniosynostosis
267010	RNU12	HP:0004442	Sagittal craniosynostosis
267010	RNU12	HP:0004440	Coronal craniosynostosis
267010	RNU12	HP:0000894	Short clavicles
267010	RNU12	HP:0045075	Sparse eyebrow
267010	RNU12	HP:0000270	Delayed cranial suture closure
267010	RNU12	HP:0000272	Malar flattening
267010	RNU12	HP:0002808	Kyphosis
267010	RNU12	HP:0000239	Large fontanelles
267010	RNU12	HP:0000248	Brachycephaly
267010	RNU12	HP:0000407	Sensorineural hearing impairment
267010	RNU12	HP:0000508	Ptosis
267012	DAOA	HP:0410291	Negativism
267012	DAOA	HP:0000006	Autosomal dominant inheritance
267012	DAOA	HP:0100753	Schizophrenia
267012	DAOA	HP:0007086	Social and occupational deterioration
267012	DAOA	HP:0002353	EEG abnormality
267012	DAOA	HP:0000738	Hallucinations
267012	DAOA	HP:0000746	Delusions
282809	POC1B	HP:0001133	Constriction of peripheral visual field
282809	POC1B	HP:0000007	Autosomal recessive inheritance
282809	POC1B	HP:0007663	Reduced visual acuity
282809	POC1B	HP:0003593	Infantile onset
282809	POC1B	HP:0000639	Nystagmus
282809	POC1B	HP:0000613	Photophobia
282809	POC1B	HP:0000603	Central scotoma
282809	POC1B	HP:0000662	Nyctalopia
282809	POC1B	HP:0011463	Childhood onset
282809	POC1B	HP:0007703	Abnormality of retinal pigmentation
282809	POC1B	HP:0007737	Bone spicule pigmentation of the retina
282809	POC1B	HP:0011003	High myopia
282809	POC1B	HP:0000505	Visual impairment
282809	POC1B	HP:0000552	Tritanomaly
282809	POC1B	HP:0000551	Color vision defect
282809	POC1B	HP:0000548	Cone/cone-rod dystrophy
282809	POC1B	HP:0000543	Optic disc pallor
282996	RBM20	HP:0025169	Left ventricular systolic dysfunction
282996	RBM20	HP:0000006	Autosomal dominant inheritance
282996	RBM20	HP:0100578	Lipoatrophy
282996	RBM20	HP:0003457	EMG abnormality
282996	RBM20	HP:0011462	Young adult onset
282996	RBM20	HP:0003198	Myopathy
282996	RBM20	HP:0003236	Elevated circulating creatine kinase concentration
282996	RBM20	HP:0000982	Palmoplantar keratoderma
282996	RBM20	HP:0001645	Sudden cardiac death
282996	RBM20	HP:0001644	Dilated cardiomyopathy
282996	RBM20	HP:0001635	Congestive heart failure
282996	RBM20	HP:0000407	Sensorineural hearing impairment
282996	RBM20	HP:0001874	Abnormality of neutrophils
283120	H19	HP:0002475	Myelomeningocele
283120	H19	HP:0007328	Impaired pain sensation
283120	H19	HP:0001270	Motor delay
283120	H19	HP:0001256	Intellectual disability, mild
283120	H19	HP:0001250	Seizure
283120	H19	HP:0001249	Intellectual disability
283120	H19	HP:0000023	Inguinal hernia
283120	H19	HP:0000028	Cryptorchidism
283120	H19	HP:0008897	Postnatal growth retardation
283120	H19	HP:0008872	Feeding difficulties in infancy
283120	H19	HP:0008846	Severe intrauterine growth retardation
283120	H19	HP:0002664	Neoplasm
283120	H19	HP:0001328	Specific learning disability
283120	H19	HP:0002667	Nephroblastoma
283120	H19	HP:0000006	Autosomal dominant inheritance
283120	H19	HP:0002650	Scoliosis
283120	H19	HP:0000164	Abnormality of the dentition
283120	H19	HP:0001476	Delayed closure of the anterior fontanelle
283120	H19	HP:0008947	Infantile muscular hypotonia
283120	H19	HP:0001428	Somatic mutation
283120	H19	HP:0002750	Delayed skeletal maturation
283120	H19	HP:0002716	Lymphadenopathy
283120	H19	HP:0002027	Abdominal pain
283120	H19	HP:0100526	Neoplasm of the lung
283120	H19	HP:0011800	Midface retrusion
283120	H19	HP:0100560	Upper limb asymmetry
283120	H19	HP:0100555	Asymmetric growth
283120	H19	HP:0100559	Lower limb asymmetry
283120	H19	HP:0010442	Polydactyly
283120	H19	HP:0001052	Nevus flammeus
283120	H19	HP:0004209	Clinodactyly of the 5th finger
283120	H19	HP:0001943	Hypoglycemia
283120	H19	HP:0001945	Fever
283120	H19	HP:0000678	Dental crowding
283120	H19	HP:0001998	Neonatal hypoglycemia
283120	H19	HP:0004325	Decreased body weight
283120	H19	HP:0004322	Short stature
283120	H19	HP:0030680	Abnormality of cardiovascular system morphology
283120	H19	HP:0000790	Hematuria
283120	H19	HP:0004482	Relative macrocephaly
283120	H19	HP:0000811	Abnormal external genitalia
283120	H19	HP:0000822	Hypertension
283120	H19	HP:0000975	Hyperhidrosis
283120	H19	HP:0002896	Neoplasm of the liver
283120	H19	HP:0000218	High palate
283120	H19	HP:0001562	Oligohydramnios
283120	H19	HP:0001558	Decreased fetal movement
283120	H19	HP:0001555	Asymmetry of the thorax
283120	H19	HP:0001528	Hemihypertrophy
283120	H19	HP:0001540	Diastasis recti
283120	H19	HP:0001537	Umbilical hernia
283120	H19	HP:0001508	Failure to thrive
283120	H19	HP:0001518	Small for gestational age
283120	H19	HP:0001511	Intrauterine growth retardation
283120	H19	HP:0000331	Short chin
283120	H19	HP:0000325	Triangular face
283120	H19	HP:0000324	Facial asymmetry
283120	H19	HP:0000411	Protruding ear
283120	H19	HP:0000526	Aniridia
283120	H19	HP:0001824	Weight loss
283120	H19	HP:0011220	Prominent forehead
283310	OTOGL	HP:0000007	Autosomal recessive inheritance
283310	OTOGL	HP:0003577	Congenital onset
283310	OTOGL	HP:0000407	Sensorineural hearing impairment
283310	OTOGL	HP:0001756	Vestibular hypofunction
283375	SLC39A5	HP:0000006	Autosomal dominant inheritance
283375	SLC39A5	HP:0003621	Juvenile onset
283375	SLC39A5	HP:0011003	High myopia
283417	DPY19L2	HP:0000007	Autosomal recessive inheritance
283417	DPY19L2	HP:0011462	Young adult onset
283417	DPY19L2	HP:0003251	Male infertility
283417	DPY19L2	HP:0012205	Globozoospermia
283446	MYO1H	HP:0001284	Areflexia
283446	MYO1H	HP:0001250	Seizure
283446	MYO1H	HP:0001252	Hypotonia
283446	MYO1H	HP:0001263	Global developmental delay
283446	MYO1H	HP:0002571	Achalasia
283446	MYO1H	HP:0000020	Urinary incontinence
283446	MYO1H	HP:0000007	Autosomal recessive inheritance
283446	MYO1H	HP:0002650	Scoliosis
283446	MYO1H	HP:0002791	Hypoventilation
283446	MYO1H	HP:0002020	Gastroesophageal reflux
283446	MYO1H	HP:0002015	Dysphagia
283446	MYO1H	HP:0005968	Temperature instability
283446	MYO1H	HP:0100543	Cognitive impairment
283446	MYO1H	HP:0002093	Respiratory insufficiency
283446	MYO1H	HP:0002091	Restrictive ventilatory defect
283446	MYO1H	HP:0002104	Apnea
283446	MYO1H	HP:0002270	Abnormality of the autonomic nervous system
283446	MYO1H	HP:0002251	Aganglionic megacolon
283446	MYO1H	HP:0011968	Feeding difficulties
283446	MYO1H	HP:0011951	Aspiration pneumonia
283446	MYO1H	HP:0002355	Difficulty walking
283446	MYO1H	HP:0003623	Neonatal onset
283446	MYO1H	HP:0031857	Ineffective esophageal peristalsis
283446	MYO1H	HP:0003005	Ganglioneuroma
283446	MYO1H	HP:0003006	Neuroblastoma
283446	MYO1H	HP:0100006	Neoplasm of the central nervous system
283446	MYO1H	HP:0011471	Gastrostomy tube feeding in infancy
283446	MYO1H	HP:0012850	Small intestinal dysmotility
283446	MYO1H	HP:0040213	Hypopnea
283446	MYO1H	HP:0002808	Kyphosis
283446	MYO1H	HP:0001688	Sinus bradycardia
283446	MYO1H	HP:0000483	Astigmatism
283446	MYO1H	HP:0000486	Strabismus
283446	MYO1H	HP:0012450	Chronic constipation
283446	MYO1H	HP:0006747	Ganglioneuroblastoma
283446	MYO1H	HP:0000545	Myopia
283459	GATC	HP:0003811	Neonatal death
283459	GATC	HP:0000007	Autosomal recessive inheritance
283459	GATC	HP:0001410	Decreased liver function
283459	GATC	HP:0008163	Decreased circulating cortisol level
283459	GATC	HP:0011924	Decreased activity of mitochondrial complex III
283459	GATC	HP:0011923	Decreased activity of mitochondrial complex I
283459	GATC	HP:0008347	Decreased activity of mitochondrial complex IV
283459	GATC	HP:0001943	Hypoglycemia
283459	GATC	HP:0001903	Anemia
283459	GATC	HP:0003128	Lactic acidosis
283459	GATC	HP:0003236	Elevated circulating creatine kinase concentration
283459	GATC	HP:0001522	Death in infancy
283459	GATC	HP:0001511	Intrauterine growth retardation
283459	GATC	HP:0000365	Hearing impairment
283459	GATC	HP:0001622	Premature birth
283459	GATC	HP:0001638	Cardiomyopathy
283459	GATC	HP:0001790	Nonimmune hydrops fetalis
283489	CHAMP1	HP:0007328	Impaired pain sensation
283489	CHAMP1	HP:0001270	Motor delay
283489	CHAMP1	HP:0001252	Hypotonia
283489	CHAMP1	HP:0001249	Intellectual disability
283489	CHAMP1	HP:0001260	Dysarthria
283489	CHAMP1	HP:0001263	Global developmental delay
283489	CHAMP1	HP:0002558	Supernumerary nipple
283489	CHAMP1	HP:0001382	Joint hypermobility
283489	CHAMP1	HP:0001357	Plagiocephaly
283489	CHAMP1	HP:0001344	Absent speech
283489	CHAMP1	HP:0000006	Autosomal dominant inheritance
283489	CHAMP1	HP:0000194	Open mouth
283489	CHAMP1	HP:0002020	Gastroesophageal reflux
283489	CHAMP1	HP:0002066	Gait ataxia
283489	CHAMP1	HP:0002188	Delayed CNS myelination
283489	CHAMP1	HP:0003593	Infantile onset
283489	CHAMP1	HP:0003577	Congenital onset
283489	CHAMP1	HP:0002205	Recurrent respiratory infections
283489	CHAMP1	HP:0011968	Feeding difficulties
283489	CHAMP1	HP:0010804	Tented upper lip vermilion
283489	CHAMP1	HP:0003623	Neonatal onset
283489	CHAMP1	HP:0002311	Incoordination
283489	CHAMP1	HP:0002307	Drooling
283489	CHAMP1	HP:0031936	Delayed ability to walk
283489	CHAMP1	HP:0100025	Overfriendliness
283489	CHAMP1	HP:0000750	Delayed speech and language development
283489	CHAMP1	HP:0000286	Epicanthus
283489	CHAMP1	HP:0000297	Facial hypotonia
283489	CHAMP1	HP:0000276	Long face
283489	CHAMP1	HP:0000252	Microcephaly
283489	CHAMP1	HP:0000219	Thin upper lip vermilion
283489	CHAMP1	HP:0000218	High palate
283489	CHAMP1	HP:0000232	Everted lower lip vermilion
283489	CHAMP1	HP:0001540	Diastasis recti
283489	CHAMP1	HP:0002870	Obstructive sleep apnea
283489	CHAMP1	HP:0001537	Umbilical hernia
283489	CHAMP1	HP:0000369	Low-set ears
283489	CHAMP1	HP:0000322	Short philtrum
283489	CHAMP1	HP:0000307	Pointed chin
283489	CHAMP1	HP:0000486	Strabismus
283489	CHAMP1	HP:0012444	Brain atrophy
283489	CHAMP1	HP:0000582	Upslanted palpebral fissure
283489	CHAMP1	HP:0000540	Hypermetropia
283652	SLC24A5	HP:0007513	Generalized hypopigmentation
283652	SLC24A5	HP:0000007	Autosomal recessive inheritance
283652	SLC24A5	HP:0007663	Reduced visual acuity
283652	SLC24A5	HP:0002286	Fair hair
283652	SLC24A5	HP:0001098	Abnormal fundus morphology
283652	SLC24A5	HP:0000639	Nystagmus
283652	SLC24A5	HP:0000613	Photophobia
283652	SLC24A5	HP:0030613	Abnormal foveal morphology on macular OCT
283652	SLC24A5	HP:0008059	Aplasia/Hypoplasia of the macula
283652	SLC24A5	HP:0008034	Abnormal iris pigmentation
283652	SLC24A5	HP:0007750	Hypoplasia of the fovea
283652	SLC24A5	HP:0000505	Visual impairment
283677	REC114	HP:0033712	Repeated implantation failure
283677	REC114	HP:0000007	Autosomal recessive inheritance
283677	REC114	HP:0008222	Female infertility
283677	REC114	HP:0003581	Adult onset
283677	REC114	HP:4000008	Formation of multiple pronuclei during fertilization
283677	REC114	HP:0005268	Miscarriage
283847	TERB1	HP:0031038	Spermatogenesis maturation arrest
283847	TERB1	HP:0000007	Autosomal recessive inheritance
283847	TERB1	HP:0011961	Non-obstructive azoospermia
283847	TERB1	HP:0011462	Young adult onset
283847	TERB1	HP:0003251	Male infertility
283987	HID1	HP:0001270	Motor delay
283987	HID1	HP:0001252	Hypotonia
283987	HID1	HP:0001257	Spasticity
283987	HID1	HP:0002521	Hypsarrhythmia
283987	HID1	HP:0000054	Micropenis
283987	HID1	HP:0033725	Thin corpus callosum
283987	HID1	HP:0001344	Absent speech
283987	HID1	HP:0000007	Autosomal recessive inheritance
283987	HID1	HP:0002069	Bilateral tonic-clonic seizure
283987	HID1	HP:0008245	Pituitary hypothyroidism
283987	HID1	HP:0003593	Infantile onset
283987	HID1	HP:0010627	Anterior pituitary hypoplasia
283987	HID1	HP:0002384	Focal impaired awareness seizure
283987	HID1	HP:0010845	EEG with generalized slow activity
283987	HID1	HP:0003623	Neonatal onset
283987	HID1	HP:0000639	Nystagmus
283987	HID1	HP:0000664	Synophrys
283987	HID1	HP:0000998	Hypertrichosis
283987	HID1	HP:0032792	Tonic seizure
283987	HID1	HP:0032794	Myoclonic seizure
283987	HID1	HP:0000316	Hypertelorism
283987	HID1	HP:0011195	EEG with focal sharp slow waves
283987	HID1	HP:0000486	Strabismus
283987	HID1	HP:0012444	Brain atrophy
283987	HID1	HP:0000527	Long eyelashes
283987	HID1	HP:0000556	Retinal dystrophy
283989	TSEN54	HP:0007308	Extrapyramidal dyskinesia
283989	TSEN54	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
283989	TSEN54	HP:0001276	Hypertonia
283989	TSEN54	HP:0001270	Motor delay
283989	TSEN54	HP:0001250	Seizure
283989	TSEN54	HP:0001266	Choreoathetosis
283989	TSEN54	HP:0001257	Spasticity
283989	TSEN54	HP:0002536	Abnormal cortical gyration
283989	TSEN54	HP:0002518	Abnormal periventricular white matter morphology
283989	TSEN54	HP:0002500	Abnormal cerebral white matter morphology
283989	TSEN54	HP:0003819	Death in childhood
283989	TSEN54	HP:0008872	Feeding difficulties in infancy
283989	TSEN54	HP:0031162	Impaired oropharyngeal swallow response
283989	TSEN54	HP:0001332	Dystonia
283989	TSEN54	HP:0000007	Autosomal recessive inheritance
283989	TSEN54	HP:0001336	Myoclonus
283989	TSEN54	HP:0001320	Cerebellar vermis hypoplasia
283989	TSEN54	HP:0001321	Cerebellar hypoplasia
283989	TSEN54	HP:0007663	Reduced visual acuity
283989	TSEN54	HP:0007598	Bilateral single transverse palmar creases
283989	TSEN54	HP:0012110	Hypoplasia of the pons
283989	TSEN54	HP:0002719	Recurrent infections
283989	TSEN54	HP:0002020	Gastroesophageal reflux
283989	TSEN54	HP:0002033	Poor suck
283989	TSEN54	HP:0002015	Dysphagia
283989	TSEN54	HP:0011800	Midface retrusion
283989	TSEN54	HP:0002079	Hypoplasia of the corpus callosum
283989	TSEN54	HP:0002072	Chorea
283989	TSEN54	HP:0003487	Babinski sign
283989	TSEN54	HP:0002123	Generalized myoclonic seizure
283989	TSEN54	HP:0002120	Cerebral cortical atrophy
283989	TSEN54	HP:0002119	Ventriculomegaly
283989	TSEN54	HP:0002104	Apnea
283989	TSEN54	HP:0002179	Opisthotonus
283989	TSEN54	HP:0002171	Gliosis
283989	TSEN54	HP:0002268	Paroxysmal dystonia
283989	TSEN54	HP:0003577	Congenital onset
283989	TSEN54	HP:0100704	Cerebral visual impairment
283989	TSEN54	HP:0003558	Viral infection-induced rhabdomyolysis
283989	TSEN54	HP:0004887	Respiratory failure requiring assisted ventilation
283989	TSEN54	HP:0200136	Oral-pharyngeal dysphagia
283989	TSEN54	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
283989	TSEN54	HP:0011968	Feeding difficulties
283989	TSEN54	HP:0002365	Hypoplasia of the brainstem
283989	TSEN54	HP:0002360	Sleep disturbance
283989	TSEN54	HP:0002350	Cerebellar cyst
283989	TSEN54	HP:0200049	Upper limb hypertonia
283989	TSEN54	HP:0007105	Infantile encephalopathy
283989	TSEN54	HP:0006850	Hypoplasia of the ventral pons
283989	TSEN54	HP:0006895	Lower limb hypertonia
283989	TSEN54	HP:0000648	Optic atrophy
283989	TSEN54	HP:0009062	Infantile axial hypotonia
283989	TSEN54	HP:0011344	Severe global developmental delay
283989	TSEN54	HP:0001999	Abnormal facial shape
283989	TSEN54	HP:0006989	Dysplastic corpus callosum
283989	TSEN54	HP:0006955	Olivopontocerebellar hypoplasia
283989	TSEN54	HP:0000711	Restlessness
283989	TSEN54	HP:0011471	Gastrostomy tube feeding in infancy
283989	TSEN54	HP:0011451	Primary microcephaly
283989	TSEN54	HP:0012765	Widened cerebellar subarachnoid space
283989	TSEN54	HP:0007772	Impaired smooth pursuit
283989	TSEN54	HP:0002803	Congenital contracture
283989	TSEN54	HP:0002804	Arthrogryposis multiplex congenita
283989	TSEN54	HP:0000253	Progressive microcephaly
283989	TSEN54	HP:0000252	Microcephaly
283989	TSEN54	HP:0002878	Respiratory failure
283989	TSEN54	HP:0001561	Polyhydramnios
283989	TSEN54	HP:0001522	Death in infancy
283989	TSEN54	HP:0002871	Central apnea
283989	TSEN54	HP:0000340	Sloping forehead
283989	TSEN54	HP:0000347	Micrognathia
283989	TSEN54	HP:0011171	Simple febrile seizure
283989	TSEN54	HP:0012469	Infantile spasms
283989	TSEN54	HP:0000505	Visual impairment
284058	KANSL1	HP:0001166	Arachnodactyly
284058	KANSL1	HP:0002465	Poor speech
284058	KANSL1	HP:0010945	Fetal pyelectasis
284058	KANSL1	HP:0009928	Thick nasal alae
284058	KANSL1	HP:0010864	Intellectual disability, severe
284058	KANSL1	HP:0002414	Spina bifida
284058	KANSL1	HP:0025268	Stuttering
284058	KANSL1	HP:0001290	Generalized hypotonia
284058	KANSL1	HP:0001274	Agenesis of corpus callosum
284058	KANSL1	HP:0001256	Intellectual disability, mild
284058	KANSL1	HP:0001250	Seizure
284058	KANSL1	HP:0001252	Hypotonia
284058	KANSL1	HP:0001249	Intellectual disability
284058	KANSL1	HP:0001263	Global developmental delay
284058	KANSL1	HP:0001238	Slender finger
284058	KANSL1	HP:0007359	Focal-onset seizure
284058	KANSL1	HP:0006006	Hypotrophy of the small hand muscles
284058	KANSL1	HP:0001212	Prominent fingertip pads
284058	KANSL1	HP:0000076	Vesicoureteral reflux
284058	KANSL1	HP:0000075	Renal duplication
284058	KANSL1	HP:0001373	Joint dislocation
284058	KANSL1	HP:0001385	Hip dysplasia
284058	KANSL1	HP:0001388	Joint laxity
284058	KANSL1	HP:0001382	Joint hypermobility
284058	KANSL1	HP:0000047	Hypospadias
284058	KANSL1	HP:0001363	Craniosynostosis
284058	KANSL1	HP:0000028	Cryptorchidism
284058	KANSL1	HP:0008897	Postnatal growth retardation
284058	KANSL1	HP:0008872	Feeding difficulties in infancy
284058	KANSL1	HP:0000010	Recurrent urinary tract infections
284058	KANSL1	HP:0000006	Autosomal dominant inheritance
284058	KANSL1	HP:0002652	Skeletal dysplasia
284058	KANSL1	HP:0002650	Scoliosis
284058	KANSL1	HP:0001319	Neonatal hypotonia
284058	KANSL1	HP:0002616	Aortic root aneurysm
284058	KANSL1	HP:0000189	Narrow palate
284058	KANSL1	HP:0000194	Open mouth
284058	KANSL1	HP:0000175	Cleft palate
284058	KANSL1	HP:0001466	Contiguous gene syndrome
284058	KANSL1	HP:0002779	Tracheomalacia
284058	KANSL1	HP:0000119	Abnormality of the genitourinary system
284058	KANSL1	HP:0000126	Hydronephrosis
284058	KANSL1	HP:0002021	Pyloric stenosis
284058	KANSL1	HP:0002011	Morphological central nervous system abnormality
284058	KANSL1	HP:0003307	Hyperlordosis
284058	KANSL1	HP:0003302	Spondylolisthesis
284058	KANSL1	HP:0002079	Hypoplasia of the corpus callosum
284058	KANSL1	HP:0002119	Ventriculomegaly
284058	KANSL1	HP:0002197	Generalized-onset seizure
284058	KANSL1	HP:0008207	Primary adrenal insufficiency
284058	KANSL1	HP:0011822	Broad chin
284058	KANSL1	HP:0100710	Impulsivity
284058	KANSL1	HP:0002205	Recurrent respiratory infections
284058	KANSL1	HP:0010719	Abnormality of hair texture
284058	KANSL1	HP:0100775	Dural ectasia
284058	KANSL1	HP:0002286	Fair hair
284058	KANSL1	HP:0002282	Gray matter heterotopia
284058	KANSL1	HP:0007018	Attention deficit hyperactivity disorder
284058	KANSL1	HP:0011968	Feeding difficulties
284058	KANSL1	HP:0007099	Chiari type I malformation
284058	KANSL1	HP:0001054	Numerous nevi
284058	KANSL1	HP:0001028	Hemangioma
284058	KANSL1	HP:0001045	Vitiligo
284058	KANSL1	HP:0002342	Intellectual disability, moderate
284058	KANSL1	HP:0001010	Hypopigmentation of the skin
284058	KANSL1	HP:0002353	EEG abnormality
284058	KANSL1	HP:0010788	Testicular neoplasm
284058	KANSL1	HP:0008445	Cervical spinal canal stenosis
284058	KANSL1	HP:0004942	Aortic aneurysm
284058	KANSL1	HP:0006813	Focal hemiclonic seizure
284058	KANSL1	HP:0004283	Narrow palm
284058	KANSL1	HP:0000648	Optic atrophy
284058	KANSL1	HP:0000601	Hypotelorism
284058	KANSL1	HP:0012699	Anomaly of lower limb diaphyses
284058	KANSL1	HP:0012683	Pineal cyst
284058	KANSL1	HP:0000687	Widely spaced teeth
284058	KANSL1	HP:0001999	Abnormal facial shape
284058	KANSL1	HP:0005656	Positional foot deformity
284058	KANSL1	HP:0004322	Short stature
284058	KANSL1	HP:0012745	Short palpebral fissure
284058	KANSL1	HP:0000752	Hyperactivity
284058	KANSL1	HP:0100024	Conspicuously happy disposition
284058	KANSL1	HP:0100025	Overfriendliness
284058	KANSL1	HP:0000767	Pectus excavatum
284058	KANSL1	HP:0000768	Pectus carinatum
284058	KANSL1	HP:0000739	Anxiety
284058	KANSL1	HP:0000750	Delayed speech and language development
284058	KANSL1	HP:0000748	Inappropriate laughter
284058	KANSL1	HP:0000729	Autistic behavior
284058	KANSL1	HP:0000708	Atypical behavior
284058	KANSL1	HP:0011470	Nasogastric tube feeding in infancy
284058	KANSL1	HP:0009130	Hand muscle atrophy
284058	KANSL1	HP:0030746	Intraventricular hemorrhage
284058	KANSL1	HP:0000826	Precocious puberty
284058	KANSL1	HP:0000821	Hypothyroidism
284058	KANSL1	HP:0000824	Decreased response to growth hormone stimulation test
284058	KANSL1	HP:0040080	Anteverted ears
284058	KANSL1	HP:0000958	Dry skin
284058	KANSL1	HP:0000957	Cafe-au-lait spot
284058	KANSL1	HP:0000968	Ectodermal dysplasia
284058	KANSL1	HP:0000964	Eczema
284058	KANSL1	HP:0000960	Sacral dimple
284058	KANSL1	HP:0000962	Hyperkeratosis
284058	KANSL1	HP:0008064	Ichthyosis
284058	KANSL1	HP:0000286	Epicanthus
284058	KANSL1	HP:0001596	Alopecia
284058	KANSL1	HP:0000256	Macrocephaly
284058	KANSL1	HP:0000276	Long face
284058	KANSL1	HP:0007730	Iris hypopigmentation
284058	KANSL1	HP:0002827	Hip dislocation
284058	KANSL1	HP:0002808	Kyphosis
284058	KANSL1	HP:0000238	Hydrocephalus
284058	KANSL1	HP:0000252	Microcephaly
284058	KANSL1	HP:0000218	High palate
284058	KANSL1	HP:0000232	Everted lower lip vermilion
284058	KANSL1	HP:0002861	Melanoma
284058	KANSL1	HP:0001533	Slender build
284058	KANSL1	HP:0000204	Cleft upper lip
284058	KANSL1	HP:0001508	Failure to thrive
284058	KANSL1	HP:0001518	Small for gestational age
284058	KANSL1	HP:0001511	Intrauterine growth retardation
284058	KANSL1	HP:0011098	Speech apraxia
284058	KANSL1	HP:0000396	Overfolded helix
284058	KANSL1	HP:0005216	Impaired mastication
284058	KANSL1	HP:0001601	Laryngomalacia
284058	KANSL1	HP:0002948	Vertebral fusion
284058	KANSL1	HP:0006482	Abnormality of dental morphology
284058	KANSL1	HP:0000365	Hearing impairment
284058	KANSL1	HP:0000337	Broad forehead
284058	KANSL1	HP:0000348	High forehead
284058	KANSL1	HP:0001647	Bicuspid aortic valve
284058	KANSL1	HP:0001643	Patent ductus arteriosus
284058	KANSL1	HP:0001642	Pulmonic stenosis
284058	KANSL1	HP:0001629	Ventricular septal defect
284058	KANSL1	HP:0001627	Abnormal heart morphology
284058	KANSL1	HP:0001638	Cardiomyopathy
284058	KANSL1	HP:0001631	Atrial septal defect
284058	KANSL1	HP:0006610	Wide intermamillary distance
284058	KANSL1	HP:0011185	EEG with focal epileptiform discharges
284058	KANSL1	HP:0011182	Interictal epileptiform activity
284058	KANSL1	HP:0000403	Recurrent otitis media
284058	KANSL1	HP:0000400	Macrotia
284058	KANSL1	HP:0000486	Strabismus
284058	KANSL1	HP:0012433	Abnormal social behavior
284058	KANSL1	HP:0012443	Abnormality of brain morphology
284058	KANSL1	HP:0001763	Pes planus
284058	KANSL1	HP:0000447	Pear-shaped nose
284058	KANSL1	HP:0000414	Bulbous nose
284058	KANSL1	HP:0000411	Protruding ear
284058	KANSL1	HP:0000431	Wide nasal bridge
284058	KANSL1	HP:0000430	Underdeveloped nasal alae
284058	KANSL1	HP:0001761	Pes cavus
284058	KANSL1	HP:0000426	Prominent nasal bridge
284058	KANSL1	HP:0005487	Prominent metopic ridge
284058	KANSL1	HP:0000518	Cataract
284058	KANSL1	HP:0001848	Calcaneovalgus deformity
284058	KANSL1	HP:0000519	Developmental cataract
284058	KANSL1	HP:0000508	Ptosis
284058	KANSL1	HP:0000505	Visual impairment
284058	KANSL1	HP:0000582	Upslanted palpebral fissure
284058	KANSL1	HP:0000581	Blepharophimosis
284058	KANSL1	HP:0000540	Hypermetropia
284086	NEK8	HP:0003774	Stage 5 chronic kidney disease
284086	NEK8	HP:0003826	Stillbirth
284086	NEK8	HP:0000090	Nephronophthisis
284086	NEK8	HP:0001396	Cholestasis
284086	NEK8	HP:0001395	Hepatic fibrosis
284086	NEK8	HP:0000007	Autosomal recessive inheritance
284086	NEK8	HP:0000105	Enlarged kidney
284086	NEK8	HP:0001407	Hepatic cysts
284086	NEK8	HP:0002089	Pulmonary hypoplasia
284086	NEK8	HP:0002101	Abnormal lung lobation
284086	NEK8	HP:0004734	Renal cortical microcysts
284086	NEK8	HP:0003577	Congenital onset
284086	NEK8	HP:0002240	Hepatomegaly
284086	NEK8	HP:0002280	Enlarged cisterna magna
284086	NEK8	HP:0000800	Cystic renal dysplasia
284086	NEK8	HP:0034198	Second trimester onset
284086	NEK8	HP:0001562	Oligohydramnios
284086	NEK8	HP:0006563	Malformation of the hepatic ductal plate
284086	NEK8	HP:0001696	Situs inversus totalis
284086	NEK8	HP:0001650	Aortic valve stenosis
284086	NEK8	HP:0002980	Femoral bowing
284086	NEK8	HP:0001642	Pulmonic stenosis
284086	NEK8	HP:0001660	Truncus arteriosus
284086	NEK8	HP:0001639	Hypertrophic cardiomyopathy
284086	NEK8	HP:0001746	Asplenia
284086	NEK8	HP:0001762	Talipes equinovarus
284086	NEK8	HP:0000546	Retinal degeneration
284098	PIGW	HP:0001195	Single umbilical artery
284098	PIGW	HP:0010864	Intellectual disability, severe
284098	PIGW	HP:0010850	EEG with spike-wave complexes
284098	PIGW	HP:0001288	Gait disturbance
284098	PIGW	HP:0001250	Seizure
284098	PIGW	HP:0001251	Ataxia
284098	PIGW	HP:0001249	Intellectual disability
284098	PIGW	HP:0001263	Global developmental delay
284098	PIGW	HP:0002558	Supernumerary nipple
284098	PIGW	HP:0006118	Shortening of all distal phalanges of the fingers
284098	PIGW	HP:0007359	Focal-onset seizure
284098	PIGW	HP:0002553	Highly arched eyebrow
284098	PIGW	HP:0002521	Hypsarrhythmia
284098	PIGW	HP:0001385	Hip dysplasia
284098	PIGW	HP:0000023	Inguinal hernia
284098	PIGW	HP:0002696	Abnormal parietal bone morphology
284098	PIGW	HP:0001357	Plagiocephaly
284098	PIGW	HP:0001344	Absent speech
284098	PIGW	HP:0000007	Autosomal recessive inheritance
284098	PIGW	HP:0001336	Myoclonus
284098	PIGW	HP:0002650	Scoliosis
284098	PIGW	HP:0001315	Reduced tendon reflexes
284098	PIGW	HP:0000193	Bifid uvula
284098	PIGW	HP:0000158	Macroglossia
284098	PIGW	HP:0008947	Infantile muscular hypotonia
284098	PIGW	HP:0000126	Hydronephrosis
284098	PIGW	HP:0002714	Downturned corners of mouth
284098	PIGW	HP:0002069	Bilateral tonic-clonic seizure
284098	PIGW	HP:0003593	Infantile onset
284098	PIGW	HP:0002251	Aganglionic megacolon
284098	PIGW	HP:0002392	EEG with polyspike wave complexes
284098	PIGW	HP:0002342	Intellectual disability, moderate
284098	PIGW	HP:0001009	Telangiectasia
284098	PIGW	HP:0010804	Tented upper lip vermilion
284098	PIGW	HP:0006808	Cerebral hypomyelination
284098	PIGW	HP:0000637	Long palpebral fissure
284098	PIGW	HP:0011344	Severe global developmental delay
284098	PIGW	HP:0000657	Oculomotor apraxia
284098	PIGW	HP:0001999	Abnormal facial shape
284098	PIGW	HP:0012736	Profound global developmental delay
284098	PIGW	HP:0000767	Pectus excavatum
284098	PIGW	HP:0012704	Widened subarachnoid space
284098	PIGW	HP:0000729	Autistic behavior
284098	PIGW	HP:0011471	Gastrostomy tube feeding in infancy
284098	PIGW	HP:0003155	Elevated circulating alkaline phosphatase concentration
284098	PIGW	HP:0040194	Increased head circumference
284098	PIGW	HP:0040195	Decreased head circumference
284098	PIGW	HP:0000286	Epicanthus
284098	PIGW	HP:0000280	Coarse facial features
284098	PIGW	HP:0000289	Broad philtrum
284098	PIGW	HP:0030084	Clinodactyly
284098	PIGW	HP:0000248	Brachycephaly
284098	PIGW	HP:0000218	High palate
284098	PIGW	HP:0001545	Anteriorly placed anus
284098	PIGW	HP:0001562	Oligohydramnios
284098	PIGW	HP:0001537	Umbilical hernia
284098	PIGW	HP:0001510	Growth delay
284098	PIGW	HP:0000378	Cupped ear
284098	PIGW	HP:0000391	Thickened helices
284098	PIGW	HP:0032792	Tonic seizure
284098	PIGW	HP:0000347	Micrognathia
284098	PIGW	HP:0000316	Hypertelorism
284098	PIGW	HP:0000311	Round face
284098	PIGW	HP:0000322	Short philtrum
284098	PIGW	HP:0000303	Mandibular prognathia
284098	PIGW	HP:0001792	Small nail
284098	PIGW	HP:0000470	Short neck
284098	PIGW	HP:0000414	Bulbous nose
284098	PIGW	HP:0000431	Wide nasal bridge
284098	PIGW	HP:0000426	Prominent nasal bridge
284098	PIGW	HP:0000582	Upslanted palpebral fissure
284098	PIGW	HP:0000594	Shallow anterior chamber
284098	PIGW	HP:0000565	Esotropia
284098	PIGW	HP:0000540	Hypermetropia
284111	SLC13A5	HP:0010864	Intellectual disability, severe
284111	SLC13A5	HP:0002421	Poor head control
284111	SLC13A5	HP:0001298	Encephalopathy
284111	SLC13A5	HP:0001290	Generalized hypotonia
284111	SLC13A5	HP:0001273	Abnormal corpus callosum morphology
284111	SLC13A5	HP:0001268	Mental deterioration
284111	SLC13A5	HP:0001250	Seizure
284111	SLC13A5	HP:0001251	Ataxia
284111	SLC13A5	HP:0001249	Intellectual disability
284111	SLC13A5	HP:0001265	Hyporeflexia
284111	SLC13A5	HP:0001266	Choreoathetosis
284111	SLC13A5	HP:0001263	Global developmental delay
284111	SLC13A5	HP:0001257	Spasticity
284111	SLC13A5	HP:0002521	Hypsarrhythmia
284111	SLC13A5	HP:0002509	Limb hypertonia
284111	SLC13A5	HP:0002500	Abnormal cerebral white matter morphology
284111	SLC13A5	HP:0031165	Multifocal seizures
284111	SLC13A5	HP:0001332	Dystonia
284111	SLC13A5	HP:0001344	Absent speech
284111	SLC13A5	HP:0000007	Autosomal recessive inheritance
284111	SLC13A5	HP:0001337	Tremor
284111	SLC13A5	HP:0001336	Myoclonus
284111	SLC13A5	HP:0001315	Reduced tendon reflexes
284111	SLC13A5	HP:0008936	Axial hypotonia
284111	SLC13A5	HP:0006286	Yellow-brown discoloration of the teeth
284111	SLC13A5	HP:0002020	Gastroesophageal reflux
284111	SLC13A5	HP:0002063	Rigidity
284111	SLC13A5	HP:0002059	Cerebral atrophy
284111	SLC13A5	HP:0002133	Status epilepticus
284111	SLC13A5	HP:0100710	Impulsivity
284111	SLC13A5	HP:0200134	Epileptic encephalopathy
284111	SLC13A5	HP:0007018	Attention deficit hyperactivity disorder
284111	SLC13A5	HP:0011968	Feeding difficulties
284111	SLC13A5	HP:0002376	Developmental regression
284111	SLC13A5	HP:0002355	Difficulty walking
284111	SLC13A5	HP:0002353	EEG abnormality
284111	SLC13A5	HP:0002317	Unsteady gait
284111	SLC13A5	HP:0010844	EEG with multifocal slow activity
284111	SLC13A5	HP:0100660	Dyskinesia
284111	SLC13A5	HP:0003623	Neonatal onset
284111	SLC13A5	HP:0000639	Nystagmus
284111	SLC13A5	HP:0000648	Optic atrophy
284111	SLC13A5	HP:0000682	Abnormal dental enamel morphology
284111	SLC13A5	HP:0000684	Delayed eruption of teeth
284111	SLC13A5	HP:0000668	Hypodontia
284111	SLC13A5	HP:0004322	Short stature
284111	SLC13A5	HP:0004305	Involuntary movements
284111	SLC13A5	HP:0000750	Delayed speech and language development
284111	SLC13A5	HP:0000717	Autism
284111	SLC13A5	HP:0000726	Dementia
284111	SLC13A5	HP:0000708	Atypical behavior
284111	SLC13A5	HP:0000705	Amelogenesis imperfecta
284111	SLC13A5	HP:0011443	Abnormality of coordination
284111	SLC13A5	HP:0000966	Hypohidrosis
284111	SLC13A5	HP:0000238	Hydrocephalus
284111	SLC13A5	HP:0000252	Microcephaly
284111	SLC13A5	HP:0001558	Decreased fetal movement
284111	SLC13A5	HP:0001508	Failure to thrive
284111	SLC13A5	HP:0011073	Abnormality of dental color
284111	SLC13A5	HP:0000348	High forehead
284111	SLC13A5	HP:0000494	Downslanted palpebral fissures
284111	SLC13A5	HP:0012448	Delayed myelination
284111	SLC13A5	HP:0012444	Brain atrophy
284111	SLC13A5	HP:0012447	Abnormal myelination
284111	SLC13A5	HP:0000508	Ptosis
284111	SLC13A5	HP:0000504	Abnormality of vision
284111	SLC13A5	HP:0012547	Abnormal involuntary eye movements
284111	SLC13A5	HP:0000546	Retinal degeneration
284119	CAVIN1	HP:0001176	Large hands
284119	CAVIN1	HP:0003701	Proximal muscle weakness
284119	CAVIN1	HP:0003719	Muscle mounding
284119	CAVIN1	HP:0003712	Skeletal muscle hypertrophy
284119	CAVIN1	HP:0001249	Intellectual disability
284119	CAVIN1	HP:0002595	Ileus
284119	CAVIN1	HP:0001263	Global developmental delay
284119	CAVIN1	HP:0008665	Clitoral hypertrophy
284119	CAVIN1	HP:0012062	Bone cyst
284119	CAVIN1	HP:0001397	Hepatic steatosis
284119	CAVIN1	HP:0001394	Cirrhosis
284119	CAVIN1	HP:0001371	Flexion contracture
284119	CAVIN1	HP:0008887	Adipose tissue loss
284119	CAVIN1	HP:0001324	Muscle weakness
284119	CAVIN1	HP:0000007	Autosomal recessive inheritance
284119	CAVIN1	HP:0002650	Scoliosis
284119	CAVIN1	HP:0002617	Vascular dilatation
284119	CAVIN1	HP:0033794	Acral overgrowth
284119	CAVIN1	HP:0000158	Macroglossia
284119	CAVIN1	HP:0000141	Amenorrhea
284119	CAVIN1	HP:0000147	Polycystic ovaries
284119	CAVIN1	HP:0002719	Recurrent infections
284119	CAVIN1	HP:0002720	Decreased circulating IgA level
284119	CAVIN1	HP:0002021	Pyloric stenosis
284119	CAVIN1	HP:0002019	Constipation
284119	CAVIN1	HP:0003326	Myalgia
284119	CAVIN1	HP:0002015	Dysphagia
284119	CAVIN1	HP:0003307	Hyperlordosis
284119	CAVIN1	HP:0003306	Spinal rigidity
284119	CAVIN1	HP:0003324	Generalized muscle weakness
284119	CAVIN1	HP:0010465	Precocious puberty in females
284119	CAVIN1	HP:0002155	Hypertriglyceridemia
284119	CAVIN1	HP:0002162	Low posterior hairline
284119	CAVIN1	HP:0003593	Infantile onset
284119	CAVIN1	HP:0002240	Hepatomegaly
284119	CAVIN1	HP:0003552	Muscle stiffness
284119	CAVIN1	HP:0003546	Exercise intolerance
284119	CAVIN1	HP:0003560	Muscular dystrophy
284119	CAVIN1	HP:0003557	Increased variability in muscle fiber diameter
284119	CAVIN1	HP:0011968	Feeding difficulties
284119	CAVIN1	HP:0001007	Hirsutism
284119	CAVIN1	HP:0003687	Centrally nucleated skeletal muscle fibers
284119	CAVIN1	HP:0001015	Prominent superficial veins
284119	CAVIN1	HP:0001999	Abnormal facial shape
284119	CAVIN1	HP:0005616	Accelerated skeletal maturation
284119	CAVIN1	HP:0011407	Proportionate tall stature
284119	CAVIN1	HP:0009125	Lipodystrophy
284119	CAVIN1	HP:0003124	Hypercholesterolemia
284119	CAVIN1	HP:0030796	Increased C-peptide level
284119	CAVIN1	HP:0000876	Oligomenorrhea
284119	CAVIN1	HP:0000855	Insulin resistance
284119	CAVIN1	HP:0000842	Hyperinsulinemia
284119	CAVIN1	HP:0000819	Diabetes mellitus
284119	CAVIN1	HP:0003236	Elevated circulating creatine kinase concentration
284119	CAVIN1	HP:0003247	Overgrowth of external genitalia
284119	CAVIN1	HP:0000998	Hypertrichosis
284119	CAVIN1	HP:0000956	Acanthosis nigricans
284119	CAVIN1	HP:0000939	Osteoporosis
284119	CAVIN1	HP:0000938	Osteopenia
284119	CAVIN1	HP:0000294	Low anterior hairline
284119	CAVIN1	HP:0005110	Atrial fibrillation
284119	CAVIN1	HP:0001544	Prominent umbilicus
284119	CAVIN1	HP:0001508	Failure to thrive
284119	CAVIN1	HP:0006532	Recurrent pneumonia
284119	CAVIN1	HP:0002910	Elevated hepatic transaminase
284119	CAVIN1	HP:0000336	Prominent supraorbital ridges
284119	CAVIN1	HP:0001649	Tachycardia
284119	CAVIN1	HP:0001662	Bradycardia
284119	CAVIN1	HP:0001657	Prolonged QT interval
284119	CAVIN1	HP:0001639	Hypertrophic cardiomyopathy
284119	CAVIN1	HP:0001635	Congestive heart failure
284119	CAVIN1	HP:0000303	Mandibular prognathia
284119	CAVIN1	HP:0001744	Splenomegaly
284119	CAVIN1	HP:0001833	Long foot
284184	NDUFAF8	HP:0025116	Fetal distress
284184	NDUFAF8	HP:0002490	Increased CSF lactate
284184	NDUFAF8	HP:0001138	Optic neuropathy
284184	NDUFAF8	HP:0002421	Poor head control
284184	NDUFAF8	HP:0002415	Leukodystrophy
284184	NDUFAF8	HP:0003737	Mitochondrial myopathy
284184	NDUFAF8	HP:0001298	Encephalopathy
284184	NDUFAF8	HP:0001254	Lethargy
284184	NDUFAF8	HP:0001250	Seizure
284184	NDUFAF8	HP:0001252	Hypotonia
284184	NDUFAF8	HP:0001251	Ataxia
284184	NDUFAF8	HP:0001263	Global developmental delay
284184	NDUFAF8	HP:0002521	Hypsarrhythmia
284184	NDUFAF8	HP:0008872	Feeding difficulties in infancy
284184	NDUFAF8	HP:0001324	Muscle weakness
284184	NDUFAF8	HP:0000007	Autosomal recessive inheritance
284184	NDUFAF8	HP:0032615	Abnormal diffusion weighted cerebral MRI morphology
284184	NDUFAF8	HP:0000114	Proximal tubulopathy
284184	NDUFAF8	HP:0002013	Vomiting
284184	NDUFAF8	HP:0002093	Respiratory insufficiency
284184	NDUFAF8	HP:0011923	Decreased activity of mitochondrial complex I
284184	NDUFAF8	HP:0003593	Infantile onset
284184	NDUFAF8	HP:0002240	Hepatomegaly
284184	NDUFAF8	HP:0004887	Respiratory failure requiring assisted ventilation
284184	NDUFAF8	HP:0003542	Increased serum pyruvate
284184	NDUFAF8	HP:0011968	Feeding difficulties
284184	NDUFAF8	HP:0008316	Abnormal mitochondria in muscle tissue
284184	NDUFAF8	HP:0002352	Leukoencephalopathy
284184	NDUFAF8	HP:0000639	Nystagmus
284184	NDUFAF8	HP:0000648	Optic atrophy
284184	NDUFAF8	HP:0000618	Blindness
284184	NDUFAF8	HP:0001943	Hypoglycemia
284184	NDUFAF8	HP:0001942	Metabolic acidosis
284184	NDUFAF8	HP:0012748	Focal T2 hyperintense brainstem lesion
284184	NDUFAF8	HP:0003128	Lactic acidosis
284184	NDUFAF8	HP:0000819	Diabetes mellitus
284184	NDUFAF8	HP:0000817	Reduced eye contact
284184	NDUFAF8	HP:0007704	Paroxysmal involuntary eye movements
284184	NDUFAF8	HP:0000252	Microcephaly
284184	NDUFAF8	HP:0001508	Failure to thrive
284184	NDUFAF8	HP:0001511	Intrauterine growth retardation
284184	NDUFAF8	HP:0001639	Hypertrophic cardiomyopathy
284184	NDUFAF8	HP:0000407	Sensorineural hearing impairment
284184	NDUFAF8	HP:0000486	Strabismus
284184	NDUFAF8	HP:0012469	Infantile spasms
284184	NDUFAF8	HP:0000508	Ptosis
284184	NDUFAF8	HP:0000543	Optic disc pallor
284217	LAMA1	HP:0001105	Retinal atrophy
284217	LAMA1	HP:0001290	Generalized hypotonia
284217	LAMA1	HP:0001270	Motor delay
284217	LAMA1	HP:0002599	Head titubation
284217	LAMA1	HP:0001252	Hypotonia
284217	LAMA1	HP:0001251	Ataxia
284217	LAMA1	HP:0001263	Global developmental delay
284217	LAMA1	HP:0002518	Abnormal periventricular white matter morphology
284217	LAMA1	HP:0003828	Variable expressivity
284217	LAMA1	HP:0000007	Autosomal recessive inheritance
284217	LAMA1	HP:0001320	Cerebellar vermis hypoplasia
284217	LAMA1	HP:0100543	Cognitive impairment
284217	LAMA1	HP:0011933	Elongated superior cerebellar peduncle
284217	LAMA1	HP:0002198	Dilated fourth ventricle
284217	LAMA1	HP:0002282	Gray matter heterotopia
284217	LAMA1	HP:0007033	Cerebellar dysplasia
284217	LAMA1	HP:0007068	Inferior cerebellar vermis hypoplasia
284217	LAMA1	HP:0002363	Abnormal brainstem morphology
284217	LAMA1	HP:0002342	Intellectual disability, moderate
284217	LAMA1	HP:0002350	Cerebellar cyst
284217	LAMA1	HP:0000639	Nystagmus
284217	LAMA1	HP:0000646	Amblyopia
284217	LAMA1	HP:0000657	Oculomotor apraxia
284217	LAMA1	HP:0000750	Delayed speech and language development
284217	LAMA1	HP:0003236	Elevated circulating creatine kinase concentration
284217	LAMA1	HP:0030329	Retinal thinning
284217	LAMA1	HP:0000486	Strabismus
284217	LAMA1	HP:0000556	Retinal dystrophy
284217	LAMA1	HP:0000540	Hypermetropia
284217	LAMA1	HP:0000545	Myopia
284252	KCTD1	HP:0009916	Anisocoria
284252	KCTD1	HP:0008551	Microtia
284252	KCTD1	HP:0001231	Abnormal fingernail morphology
284252	KCTD1	HP:0006101	Finger syndactyly
284252	KCTD1	HP:0000089	Renal hypoplasia
284252	KCTD1	HP:0000083	Renal insufficiency
284252	KCTD1	HP:0000077	Abnormality of the kidney
284252	KCTD1	HP:0000073	Ureteral duplication
284252	KCTD1	HP:0001362	Calvarial skull defect
284252	KCTD1	HP:0000010	Recurrent urinary tract infections
284252	KCTD1	HP:0000006	Autosomal dominant inheritance
284252	KCTD1	HP:0000193	Bifid uvula
284252	KCTD1	HP:0000164	Abnormality of the dentition
284252	KCTD1	HP:0006349	Agenesis of permanent teeth
284252	KCTD1	HP:0000122	Unilateral renal agenesis
284252	KCTD1	HP:0004691	2-3 toe syndactyly
284252	KCTD1	HP:0002000	Short columella
284252	KCTD1	HP:0002007	Frontal bossing
284252	KCTD1	HP:0100540	Palpebral edema
284252	KCTD1	HP:0004755	Supraventricular tachycardia
284252	KCTD1	HP:0011939	3-4 finger cutaneous syndactyly
284252	KCTD1	HP:0002164	Nail dysplasia
284252	KCTD1	HP:0002215	Sparse axillary hair
284252	KCTD1	HP:0002232	Patchy alopecia
284252	KCTD1	HP:0002225	Sparse pubic hair
284252	KCTD1	HP:0002213	Fine hair
284252	KCTD1	HP:0009738	Abnormal antihelix morphology
284252	KCTD1	HP:0100783	Breast aplasia
284252	KCTD1	HP:0001057	Aplasia cutis congenita
284252	KCTD1	HP:0001012	Multiple lipomas
284252	KCTD1	HP:0100651	Type I diabetes mellitus
284252	KCTD1	HP:0001072	Thickened skin
284252	KCTD1	HP:0004209	Clinodactyly of the 5th finger
284252	KCTD1	HP:0005580	Duplication of renal pelvis
284252	KCTD1	HP:0001965	Abnormal scalp morphology
284252	KCTD1	HP:0000612	Iris coloboma
284252	KCTD1	HP:0000625	Eyelid coloboma
284252	KCTD1	HP:0000601	Hypotelorism
284252	KCTD1	HP:0000684	Delayed eruption of teeth
284252	KCTD1	HP:0000652	Lower eyelid coloboma
284252	KCTD1	HP:0011304	Broad thumb
284252	KCTD1	HP:0004322	Short stature
284252	KCTD1	HP:0006956	Lateral ventricle dilatation
284252	KCTD1	HP:0000822	Hypertension
284252	KCTD1	HP:0040080	Anteverted ears
284252	KCTD1	HP:0000992	Cutaneous photosensitivity
284252	KCTD1	HP:0000958	Dry skin
284252	KCTD1	HP:0000951	Abnormality of the skin
284252	KCTD1	HP:0000966	Hypohidrosis
284252	KCTD1	HP:0045025	Narrow palpebral fissure
284252	KCTD1	HP:0008070	Sparse hair
284252	KCTD1	HP:0011672	Cardiac myxoma
284252	KCTD1	HP:0000286	Epicanthus
284252	KCTD1	HP:0000385	Small earlobe
284252	KCTD1	HP:0000378	Cupped ear
284252	KCTD1	HP:0000396	Overfolded helix
284252	KCTD1	HP:0000358	Posteriorly rotated ears
284252	KCTD1	HP:0000369	Low-set ears
284252	KCTD1	HP:0012330	Pyelonephritis
284252	KCTD1	HP:0001635	Congestive heart failure
284252	KCTD1	HP:0000303	Mandibular prognathia
284252	KCTD1	HP:0005280	Depressed nasal bridge
284252	KCTD1	HP:0000463	Anteverted nares
284252	KCTD1	HP:0000411	Protruding ear
284252	KCTD1	HP:0006709	Aplasia/Hypoplasia of the nipples
284252	KCTD1	HP:0011272	Underdeveloped tragus
284252	KCTD1	HP:0000518	Cataract
284252	KCTD1	HP:0000519	Developmental cataract
284252	KCTD1	HP:0000506	Telecanthus
284252	KCTD1	HP:0011251	Underdeveloped antitragus
284252	KCTD1	HP:0000581	Blepharophimosis
284361	EMC10	HP:0025116	Fetal distress
284361	EMC10	HP:0001256	Intellectual disability, mild
284361	EMC10	HP:0001260	Dysarthria
284361	EMC10	HP:0001263	Global developmental delay
284361	EMC10	HP:0001357	Plagiocephaly
284361	EMC10	HP:0000007	Autosomal recessive inheritance
284361	EMC10	HP:0002007	Frontal bossing
284361	EMC10	HP:0002360	Sleep disturbance
284361	EMC10	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
284361	EMC10	HP:0001007	Hirsutism
284361	EMC10	HP:0000639	Nystagmus
284361	EMC10	HP:0000678	Dental crowding
284361	EMC10	HP:0000664	Synophrys
284361	EMC10	HP:0031987	Diminished ability to concentrate
284361	EMC10	HP:0100033	Tics
284361	EMC10	HP:0000739	Anxiety
284361	EMC10	HP:0000750	Delayed speech and language development
284361	EMC10	HP:0011463	Childhood onset
284361	EMC10	HP:0000337	Broad forehead
284361	EMC10	HP:0000325	Triangular face
284382	ACTL9	HP:0000007	Autosomal recessive inheritance
284382	ACTL9	HP:0032562	Tapered sperm head
284382	ACTL9	HP:0003251	Male infertility
284403	WDR62	HP:0010864	Intellectual disability, severe
284403	WDR62	HP:0009879	Simplified gyral pattern
284403	WDR62	HP:0001276	Hypertonia
284403	WDR62	HP:0001274	Agenesis of corpus callosum
284403	WDR62	HP:0001270	Motor delay
284403	WDR62	HP:0001269	Hemiparesis
284403	WDR62	HP:0001285	Spastic tetraparesis
284403	WDR62	HP:0001250	Seizure
284403	WDR62	HP:0001249	Intellectual disability
284403	WDR62	HP:0001260	Dysarthria
284403	WDR62	HP:0001263	Global developmental delay
284403	WDR62	HP:0007333	Hypoplasia of the frontal lobes
284403	WDR62	HP:0000076	Vesicoureteral reflux
284403	WDR62	HP:0001348	Brisk reflexes
284403	WDR62	HP:0001347	Hyperreflexia
284403	WDR62	HP:0000028	Cryptorchidism
284403	WDR62	HP:0001339	Lissencephaly
284403	WDR62	HP:0000007	Autosomal recessive inheritance
284403	WDR62	HP:0001302	Pachygyria
284403	WDR62	HP:0000122	Unilateral renal agenesis
284403	WDR62	HP:0002069	Bilateral tonic-clonic seizure
284403	WDR62	HP:0002079	Hypoplasia of the corpus callosum
284403	WDR62	HP:0002119	Ventriculomegaly
284403	WDR62	HP:0002126	Polymicrogyria
284403	WDR62	HP:0002197	Generalized-onset seizure
284403	WDR62	HP:0003593	Infantile onset
284403	WDR62	HP:0002269	Abnormality of neuronal migration
284403	WDR62	HP:0003577	Congenital onset
284403	WDR62	HP:0100710	Impulsivity
284403	WDR62	HP:0003551	Difficulty climbing stairs
284403	WDR62	HP:0002282	Gray matter heterotopia
284403	WDR62	HP:0010636	Schizencephaly
284403	WDR62	HP:0002342	Intellectual disability, moderate
284403	WDR62	HP:0002353	EEG abnormality
284403	WDR62	HP:0011344	Severe global developmental delay
284403	WDR62	HP:0004322	Short stature
284403	WDR62	HP:0000752	Hyperactivity
284403	WDR62	HP:0000750	Delayed speech and language development
284403	WDR62	HP:0000742	Self-mutilation
284403	WDR62	HP:0000718	Aggressive behavior
284403	WDR62	HP:0011463	Childhood onset
284403	WDR62	HP:0003103	Abnormal cortical bone morphology
284403	WDR62	HP:0000252	Microcephaly
284403	WDR62	HP:0000219	Thin upper lip vermilion
284403	WDR62	HP:0001558	Decreased fetal movement
284403	WDR62	HP:0001508	Failure to thrive
284403	WDR62	HP:0001510	Growth delay
284403	WDR62	HP:0000340	Sloping forehead
284403	WDR62	HP:0000347	Micrognathia
284403	WDR62	HP:0001622	Premature birth
284403	WDR62	HP:0002970	Genu varum
284403	WDR62	HP:0000303	Mandibular prognathia
284403	WDR62	HP:0000414	Bulbous nose
284403	WDR62	HP:0000582	Upslanted palpebral fissure
284439	SLC25A42	HP:0003738	Exercise-induced myalgia
284439	SLC25A42	HP:0003701	Proximal muscle weakness
284439	SLC25A42	HP:0001290	Generalized hypotonia
284439	SLC25A42	HP:0001270	Motor delay
284439	SLC25A42	HP:0001250	Seizure
284439	SLC25A42	HP:0001251	Ataxia
284439	SLC25A42	HP:0001266	Choreoathetosis
284439	SLC25A42	HP:0001260	Dysarthria
284439	SLC25A42	HP:0001263	Global developmental delay
284439	SLC25A42	HP:0025336	Delayed ability to sit
284439	SLC25A42	HP:0001332	Dystonia
284439	SLC25A42	HP:0000007	Autosomal recessive inheritance
284439	SLC25A42	HP:0002650	Scoliosis
284439	SLC25A42	HP:0003388	Easy fatigability
284439	SLC25A42	HP:0002151	Increased serum lactate
284439	SLC25A42	HP:0003593	Infantile onset
284439	SLC25A42	HP:0002359	Frequent falls
284439	SLC25A42	HP:0003688	Cytochrome C oxidase-negative muscle fibers
284439	SLC25A42	HP:0002376	Developmental regression
284439	SLC25A42	HP:0001987	Hyperammonemia
284439	SLC25A42	HP:0031936	Delayed ability to walk
284439	SLC25A42	HP:0000750	Delayed speech and language development
284439	SLC25A42	HP:0003128	Lactic acidosis
284439	SLC25A42	HP:0003236	Elevated circulating creatine kinase concentration
284439	SLC25A42	HP:0003200	Ragged-red muscle fibers
284439	SLC25A42	HP:0003201	Rhabdomyolysis
284439	SLC25A42	HP:0030319	Weakness of facial musculature
284654	RSPO1	HP:0007410	Palmoplantar hyperhidrosis
284654	RSPO1	HP:0008734	Decreased testicular size
284654	RSPO1	HP:0008665	Clitoral hypertrophy
284654	RSPO1	HP:0000062	Ambiguous genitalia
284654	RSPO1	HP:0000047	Hypospadias
284654	RSPO1	HP:0000007	Autosomal recessive inheritance
284654	RSPO1	HP:0012118	Laryngeal carcinoma
284654	RSPO1	HP:0006357	Premature loss of permanent teeth
284654	RSPO1	HP:0002155	Hypertriglyceridemia
284654	RSPO1	HP:0011838	Sclerodactyly
284654	RSPO1	HP:0008404	Nail dystrophy
284654	RSPO1	HP:0025080	Orthokeratotic hyperkeratosis
284654	RSPO1	HP:0000771	Gynecomastia
284654	RSPO1	HP:0030731	Carcinoma
284654	RSPO1	HP:0003124	Hypercholesterolemia
284654	RSPO1	HP:0012861	Ovotestis
284654	RSPO1	HP:0003241	External genital hypoplasia
284654	RSPO1	HP:0000982	Palmoplantar keratoderma
284654	RSPO1	HP:0012245	Sex reversal
284654	RSPO1	HP:0001792	Small nail
284654	RSPO1	HP:0006739	Squamous cell carcinoma of the skin
285025	CCDC141	HP:0001288	Gait disturbance
285025	CCDC141	HP:0001250	Seizure
285025	CCDC141	HP:0001252	Hypotonia
285025	CCDC141	HP:0001251	Ataxia
285025	CCDC141	HP:0001260	Dysarthria
285025	CCDC141	HP:0008734	Decreased testicular size
285025	CCDC141	HP:0008736	Hypoplasia of penis
285025	CCDC141	HP:0000044	Hypogonadotropic hypogonadism
285025	CCDC141	HP:0000054	Micropenis
285025	CCDC141	HP:0000028	Cryptorchidism
285025	CCDC141	HP:0001324	Muscle weakness
285025	CCDC141	HP:0000008	Abnormal morphology of female internal genitalia
285025	CCDC141	HP:0000007	Autosomal recessive inheritance
285025	CCDC141	HP:0001335	Bimanual synkinesia
285025	CCDC141	HP:0001337	Tremor
285025	CCDC141	HP:0002652	Skeletal dysplasia
285025	CCDC141	HP:0000175	Cleft palate
285025	CCDC141	HP:0000144	Decreased fertility
285025	CCDC141	HP:0002757	Recurrent fractures
285025	CCDC141	HP:0000104	Renal agenesis
285025	CCDC141	HP:0002750	Delayed skeletal maturation
285025	CCDC141	HP:0010550	Paraplegia
285025	CCDC141	HP:0002215	Sparse axillary hair
285025	CCDC141	HP:0002225	Sparse pubic hair
285025	CCDC141	HP:0009804	Tooth agenesis
285025	CCDC141	HP:0100639	Erectile dysfunction
285025	CCDC141	HP:0003621	Juvenile onset
285025	CCDC141	HP:0000639	Nystagmus
285025	CCDC141	HP:0030680	Abnormality of cardiovascular system morphology
285025	CCDC141	HP:0004349	Reduced bone mineral density
285025	CCDC141	HP:0000771	Gynecomastia
285025	CCDC141	HP:0000789	Infertility
285025	CCDC141	HP:0000786	Primary amenorrhea
285025	CCDC141	HP:0004409	Hyposmia
285025	CCDC141	HP:0004408	Abnormality of the sense of smell
285025	CCDC141	HP:0003187	Breast hypoplasia
285025	CCDC141	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
285025	CCDC141	HP:0000830	Anterior hypopituitarism
285025	CCDC141	HP:0000823	Delayed puberty
285025	CCDC141	HP:0008064	Ichthyosis
285025	CCDC141	HP:0030016	Dyspareunia
285025	CCDC141	HP:0001513	Obesity
285025	CCDC141	HP:0001608	Abnormality of the voice
285025	CCDC141	HP:0000407	Sensorineural hearing impairment
285025	CCDC141	HP:0000458	Anosmia
285025	CCDC141	HP:0001763	Pes planus
285025	CCDC141	HP:0001761	Pes cavus
285025	CCDC141	HP:0000508	Ptosis
285025	CCDC141	HP:0000505	Visual impairment
285025	CCDC141	HP:0000551	Color vision defect
285175	UNC80	HP:0001182	Tapered finger
285175	UNC80	HP:0001166	Arachnodactyly
285175	UNC80	HP:0002465	Poor speech
285175	UNC80	HP:0100963	Hyperesthesia
285175	UNC80	HP:0009931	Enlarged naris
285175	UNC80	HP:0010864	Intellectual disability, severe
285175	UNC80	HP:0009884	Tapered distal phalanges of finger
285175	UNC80	HP:0001290	Generalized hypotonia
285175	UNC80	HP:0001276	Hypertonia
285175	UNC80	HP:0001270	Motor delay
285175	UNC80	HP:0001250	Seizure
285175	UNC80	HP:0001252	Hypotonia
285175	UNC80	HP:0001263	Global developmental delay
285175	UNC80	HP:0001257	Spasticity
285175	UNC80	HP:0002540	Inability to walk
285175	UNC80	HP:0002510	Spastic tetraplegia
285175	UNC80	HP:0001357	Plagiocephaly
285175	UNC80	HP:0001344	Absent speech
285175	UNC80	HP:0000007	Autosomal recessive inheritance
285175	UNC80	HP:0002650	Scoliosis
285175	UNC80	HP:0001319	Neonatal hypotonia
285175	UNC80	HP:0000194	Open mouth
285175	UNC80	HP:0008947	Infantile muscular hypotonia
285175	UNC80	HP:0008936	Axial hypotonia
285175	UNC80	HP:0002019	Constipation
285175	UNC80	HP:0002007	Frontal bossing
285175	UNC80	HP:0002079	Hypoplasia of the corpus callosum
285175	UNC80	HP:0002059	Cerebral atrophy
285175	UNC80	HP:0003458	EMG: myopathic abnormalities
285175	UNC80	HP:0002187	Intellectual disability, profound
285175	UNC80	HP:0100716	Self-injurious behavior
285175	UNC80	HP:0002283	Global brain atrophy
285175	UNC80	HP:0011968	Feeding difficulties
285175	UNC80	HP:0007069	Profound static encephalopathy
285175	UNC80	HP:0002360	Sleep disturbance
285175	UNC80	HP:0002353	EEG abnormality
285175	UNC80	HP:0100660	Dyskinesia
285175	UNC80	HP:0010804	Tented upper lip vermilion
285175	UNC80	HP:0200055	Small hand
285175	UNC80	HP:0000639	Nystagmus
285175	UNC80	HP:0011344	Severe global developmental delay
285175	UNC80	HP:0001999	Abnormal facial shape
285175	UNC80	HP:0004322	Short stature
285175	UNC80	HP:0004326	Cachexia
285175	UNC80	HP:0012736	Profound global developmental delay
285175	UNC80	HP:0100024	Conspicuously happy disposition
285175	UNC80	HP:0000750	Delayed speech and language development
285175	UNC80	HP:0011470	Nasogastric tube feeding in infancy
285175	UNC80	HP:0003273	Hip contracture
285175	UNC80	HP:0000938	Osteopenia
285175	UNC80	HP:0000286	Epicanthus
285175	UNC80	HP:0000297	Facial hypotonia
285175	UNC80	HP:0006380	Knee flexion contracture
285175	UNC80	HP:0000252	Microcephaly
285175	UNC80	HP:0000248	Brachycephaly
285175	UNC80	HP:0000219	Thin upper lip vermilion
285175	UNC80	HP:0001531	Failure to thrive in infancy
285175	UNC80	HP:0001525	Severe failure to thrive
285175	UNC80	HP:0002870	Obstructive sleep apnea
285175	UNC80	HP:0001511	Intrauterine growth retardation
285175	UNC80	HP:0012389	Appendicular hypotonia
285175	UNC80	HP:0000358	Posteriorly rotated ears
285175	UNC80	HP:0000369	Low-set ears
285175	UNC80	HP:0000368	Low-set, posteriorly rotated ears
285175	UNC80	HP:0000337	Broad forehead
285175	UNC80	HP:0000348	High forehead
285175	UNC80	HP:0000347	Micrognathia
285175	UNC80	HP:0000319	Smooth philtrum
285175	UNC80	HP:0002987	Elbow flexion contracture
285175	UNC80	HP:0000322	Short philtrum
285175	UNC80	HP:0000325	Triangular face
285175	UNC80	HP:0000486	Strabismus
285175	UNC80	HP:0000494	Downslanted palpebral fissures
285175	UNC80	HP:0000463	Anteverted nares
285175	UNC80	HP:0000470	Short neck
285175	UNC80	HP:0000448	Prominent nose
285175	UNC80	HP:0000414	Bulbous nose
285175	UNC80	HP:0001762	Talipes equinovarus
285175	UNC80	HP:0000431	Wide nasal bridge
285175	UNC80	HP:0000426	Prominent nasal bridge
285175	UNC80	HP:0000508	Ptosis
285175	UNC80	HP:0011220	Prominent forehead
285175	UNC80	HP:0000565	Esotropia
285203	EOGT	HP:0001171	Split hand
285203	EOGT	HP:0001156	Brachydactyly
285203	EOGT	HP:0009882	Short distal phalanx of finger
285203	EOGT	HP:0001276	Hypertonia
285203	EOGT	HP:0001269	Hemiparesis
285203	EOGT	HP:0001250	Seizure
285203	EOGT	HP:0001249	Intellectual disability
285203	EOGT	HP:0006101	Finger syndactyly
285203	EOGT	HP:0001394	Cirrhosis
285203	EOGT	HP:0001362	Calvarial skull defect
285203	EOGT	HP:0000007	Autosomal recessive inheritance
285203	EOGT	HP:0002612	Congenital hepatic fibrosis
285203	EOGT	HP:0001409	Portal hypertension
285203	EOGT	HP:0002084	Encephalocele
285203	EOGT	HP:0002092	Pulmonary arterial hypertension
285203	EOGT	HP:0002040	Esophageal varix
285203	EOGT	HP:0005916	Abnormal metacarpal morphology
285203	EOGT	HP:0002132	Porencephalic cyst
285203	EOGT	HP:0003577	Congenital onset
285203	EOGT	HP:0002239	Gastrointestinal hemorrhage
285203	EOGT	HP:0100797	Toenail dysplasia
285203	EOGT	HP:0010645	Aplasia of the distal phalanges of the toes
285203	EOGT	HP:0010624	Aplastic/hypoplastic toenail
285203	EOGT	HP:0001057	Aplasia cutis congenita
285203	EOGT	HP:0002353	EEG abnormality
285203	EOGT	HP:0010760	Absent toe
285203	EOGT	HP:0004935	Pulmonary artery atresia
285203	EOGT	HP:0006970	Periventricular leukomalacia
285203	EOGT	HP:0100026	Arteriovenous malformation
285203	EOGT	HP:0100381	Absent middle phalanx of the 3rd toe
285203	EOGT	HP:0100382	Aplasia of the middle phalanx of the 4th toe
285203	EOGT	HP:0000965	Cutis marmorata
285203	EOGT	HP:0008070	Sparse hair
285203	EOGT	HP:0008065	Aplasia/Hypoplasia of the skin
285203	EOGT	HP:0001596	Alopecia
285203	EOGT	HP:0002817	Abnormality of the upper limb
285203	EOGT	HP:0002814	Abnormality of the lower limb
285203	EOGT	HP:0000238	Hydrocephalus
285203	EOGT	HP:0001541	Ascites
285203	EOGT	HP:0001537	Umbilical hernia
285203	EOGT	HP:0001508	Failure to thrive
285203	EOGT	HP:0001643	Patent ductus arteriosus
285203	EOGT	HP:0001629	Ventricular septal defect
285203	EOGT	HP:0001622	Premature birth
285203	EOGT	HP:0001641	Abnormal pulmonary valve morphology
285203	EOGT	HP:0001636	Tetralogy of Fallot
285203	EOGT	HP:0001631	Atrial septal defect
285203	EOGT	HP:0004050	Absent hand
285203	EOGT	HP:0000486	Strabismus
285203	EOGT	HP:0000518	Cataract
285203	EOGT	HP:0001831	Short toe
285203	EOGT	HP:0001804	Hypoplastic fingernail
285203	EOGT	HP:0001800	Hypoplastic toenails
285203	EOGT	HP:0001817	Absent fingernail
285203	EOGT	HP:0000568	Microphthalmia
285203	EOGT	HP:0001883	Talipes
285203	EOGT	HP:0001882	Leukopenia
285203	EOGT	HP:0001873	Thrombocytopenia
285282	RABL3	HP:0025318	Ovarian carcinoma
285282	RABL3	HP:0000006	Autosomal dominant inheritance
285282	RABL3	HP:0001433	Hepatosplenomegaly
285282	RABL3	HP:0002716	Lymphadenopathy
285282	RABL3	HP:0002017	Nausea and vomiting
285282	RABL3	HP:0002027	Abdominal pain
285282	RABL3	HP:0002039	Anorexia
285282	RABL3	HP:0100592	Peritoneal abscess
285282	RABL3	HP:0003418	Back pain
285282	RABL3	HP:0002254	Intermittent diarrhea
285282	RABL3	HP:0003002	Breast carcinoma
285282	RABL3	HP:0003003	Colon cancer
285282	RABL3	HP:0004389	Intestinal pseudo-obstruction
285282	RABL3	HP:0004396	Poor appetite
285282	RABL3	HP:0000819	Diabetes mellitus
285282	RABL3	HP:0000952	Jaundice
285282	RABL3	HP:0002896	Neoplasm of the liver
285282	RABL3	HP:0002861	Melanoma
285282	RABL3	HP:0005249	Functional intestinal obstruction
285282	RABL3	HP:0002910	Elevated hepatic transaminase
285282	RABL3	HP:0012334	Extrahepatic cholestasis
285282	RABL3	HP:0001738	Exocrine pancreatic insufficiency
285282	RABL3	HP:0012432	Chronic fatigue
285282	RABL3	HP:0006725	Pancreatic adenocarcinoma
285282	RABL3	HP:0001824	Weight loss
285362	SUMF1	HP:0007307	Rapid neurologic deterioration
285362	SUMF1	HP:0007305	CNS demyelination
285362	SUMF1	HP:0001272	Cerebellar atrophy
285362	SUMF1	HP:0001250	Seizure
285362	SUMF1	HP:0001251	Ataxia
285362	SUMF1	HP:0001249	Intellectual disability
285362	SUMF1	HP:0001263	Global developmental delay
285362	SUMF1	HP:0001257	Spasticity
285362	SUMF1	HP:0002518	Abnormal periventricular white matter morphology
285362	SUMF1	HP:0001387	Joint stiffness
285362	SUMF1	HP:0000007	Autosomal recessive inheritance
285362	SUMF1	HP:0001319	Neonatal hypotonia
285362	SUMF1	HP:0002003	Large forehead
285362	SUMF1	HP:0100539	Periorbital edema
285362	SUMF1	HP:0002059	Cerebral atrophy
285362	SUMF1	HP:0008155	Mucopolysacchariduria
285362	SUMF1	HP:0002119	Ventriculomegaly
285362	SUMF1	HP:0002240	Hepatomegaly
285362	SUMF1	HP:0002208	Coarse hair
285362	SUMF1	HP:0002395	Lower limb hyperreflexia
285362	SUMF1	HP:0002376	Developmental regression
285362	SUMF1	HP:0008479	Hypoplastic vertebral bodies
285362	SUMF1	HP:0010059	Broad hallux phalanx
285362	SUMF1	HP:0000648	Optic atrophy
285362	SUMF1	HP:0010055	Broad hallux
285362	SUMF1	HP:0011304	Broad thumb
285362	SUMF1	HP:0004322	Short stature
285362	SUMF1	HP:0003134	Abnormality of peripheral nerve conduction
285362	SUMF1	HP:0000943	Dysostosis multiplex
285362	SUMF1	HP:0008064	Ichthyosis
285362	SUMF1	HP:0007703	Abnormality of retinal pigmentation
285362	SUMF1	HP:0000280	Coarse facial features
285362	SUMF1	HP:0000256	Macrocephaly
285362	SUMF1	HP:0000238	Hydrocephalus
285362	SUMF1	HP:0000252	Microcephaly
285362	SUMF1	HP:0011096	Peripheral demyelination
285362	SUMF1	HP:0012368	Flat face
285362	SUMF1	HP:0002922	Increased CSF protein concentration
285362	SUMF1	HP:0000365	Hearing impairment
285362	SUMF1	HP:0000319	Smooth philtrum
285362	SUMF1	HP:0007957	Corneal opacity
285362	SUMF1	HP:0000407	Sensorineural hearing impairment
285362	SUMF1	HP:0005280	Depressed nasal bridge
285362	SUMF1	HP:0000463	Anteverted nares
285362	SUMF1	HP:0001744	Splenomegaly
285362	SUMF1	HP:0000518	Cataract
285362	SUMF1	HP:0000505	Visual impairment
285362	SUMF1	HP:0011220	Prominent forehead
285362	SUMF1	HP:0000574	Thick eyebrow
285362	SUMF1	HP:0000546	Retinal degeneration
285440	CYP4V2	HP:0001133	Constriction of peripheral visual field
285440	CYP4V2	HP:0001129	Large central visual field defect
285440	CYP4V2	HP:0001141	Severely reduced visual acuity
285440	CYP4V2	HP:0000007	Autosomal recessive inheritance
285440	CYP4V2	HP:0007675	Progressive night blindness
285440	CYP4V2	HP:0007663	Reduced visual acuity
285440	CYP4V2	HP:0200065	Chorioretinal degeneration
285440	CYP4V2	HP:0030528	Paracentral scotoma
285440	CYP4V2	HP:0000618	Blindness
285440	CYP4V2	HP:0000603	Central scotoma
285440	CYP4V2	HP:0030491	Choriocapillaris atrophy
285440	CYP4V2	HP:0000662	Nyctalopia
285440	CYP4V2	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
285440	CYP4V2	HP:0011505	Cystoid macular edema
285440	CYP4V2	HP:0007722	Retinal pigment epithelial atrophy
285440	CYP4V2	HP:0007760	Crystalline corneal dystrophy
285440	CYP4V2	HP:0007814	Retinal pigment epithelial mottling
285440	CYP4V2	HP:0031528	Subretinal deposits
285440	CYP4V2	HP:0007880	Marginal corneal dystrophy
285440	CYP4V2	HP:0011003	High myopia
285440	CYP4V2	HP:0030329	Retinal thinning
285440	CYP4V2	HP:0000529	Progressive visual loss
285440	CYP4V2	HP:0000505	Visual impairment
285440	CYP4V2	HP:0000580	Pigmentary retinopathy
285440	CYP4V2	HP:0000531	Corneal crystals
285440	CYP4V2	HP:0000533	Chorioretinal atrophy
285440	CYP4V2	HP:0000551	Color vision defect
285440	CYP4V2	HP:0000546	Retinal degeneration
285489	DOK7	HP:0003722	Neck flexor weakness
285489	DOK7	HP:0003700	Generalized amyotrophy
285489	DOK7	HP:0001283	Bulbar palsy
285489	DOK7	HP:0001262	Excessive daytime somnolence
285489	DOK7	HP:0007430	Generalized edema
285489	DOK7	HP:0002515	Waddling gait
285489	DOK7	HP:0003803	Type 1 muscle fiber predominance
285489	DOK7	HP:0000028	Cryptorchidism
285489	DOK7	HP:0410011	Abnormality of masticatory muscle
285489	DOK7	HP:0001324	Muscle weakness
285489	DOK7	HP:0000007	Autosomal recessive inheritance
285489	DOK7	HP:0001305	Dandy-Walker malformation
285489	DOK7	HP:0002650	Scoliosis
285489	DOK7	HP:0001315	Reduced tendon reflexes
285489	DOK7	HP:0031108	Triceps weakness
285489	DOK7	HP:0000175	Cleft palate
285489	DOK7	HP:0001446	Abnormality of the musculature of the upper limbs
285489	DOK7	HP:0002792	Reduced vital capacity
285489	DOK7	HP:0002747	Respiratory insufficiency due to muscle weakness
285489	DOK7	HP:0003327	Axial muscle weakness
285489	DOK7	HP:0002089	Pulmonary hypoplasia
285489	DOK7	HP:0002093	Respiratory insufficiency
285489	DOK7	HP:0002091	Restrictive ventilatory defect
285489	DOK7	HP:0003394	Muscle spasm
285489	DOK7	HP:0003391	Gowers sign
285489	DOK7	HP:0003388	Easy fatigability
285489	DOK7	HP:0008180	Mildly elevated creatine kinase
285489	DOK7	HP:0010489	Absent palmar crease
285489	DOK7	HP:0003473	Fatigable weakness
285489	DOK7	HP:0003484	Upper limb muscle weakness
285489	DOK7	HP:0003458	EMG: myopathic abnormalities
285489	DOK7	HP:0003443	Decreased size of nerve terminals
285489	DOK7	HP:0003402	Decreased miniature endplate potentials
285489	DOK7	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
285489	DOK7	HP:0002194	Delayed gross motor development
285489	DOK7	HP:0100490	Camptodactyly of finger
285489	DOK7	HP:0010557	Overlapping fingers
285489	DOK7	HP:0003547	Shoulder girdle muscle weakness
285489	DOK7	HP:0010628	Facial palsy
285489	DOK7	HP:0001059	Pterygium
285489	DOK7	HP:0003693	Distal amyotrophy
285489	DOK7	HP:0002375	Hypokinesia
285489	DOK7	HP:0002329	Drowsiness
285489	DOK7	HP:0007126	Proximal amyotrophy
285489	DOK7	HP:0002304	Akinesia
285489	DOK7	HP:0003621	Juvenile onset
285489	DOK7	HP:0009077	Weakness of long finger extensor muscles
285489	DOK7	HP:0000651	Diplopia
285489	DOK7	HP:0009005	Weakness of the intrinsic hand muscles
285489	DOK7	HP:0001989	Fetal akinesia sequence
285489	DOK7	HP:0005659	Thoracic kyphoscoliosis
285489	DOK7	HP:0011463	Childhood onset
285489	DOK7	HP:0012764	Orthopnea
285489	DOK7	HP:0003202	Skeletal muscle atrophy
285489	DOK7	HP:0000961	Cyanosis
285489	DOK7	HP:0002828	Multiple joint contractures
285489	DOK7	HP:0002804	Arthrogryposis multiplex congenita
285489	DOK7	HP:0002878	Respiratory failure
285489	DOK7	HP:0000218	High palate
285489	DOK7	HP:0002875	Exertional dyspnea
285489	DOK7	HP:0001561	Polyhydramnios
285489	DOK7	HP:0001558	Decreased fetal movement
285489	DOK7	HP:0031374	Ankle weakness
285489	DOK7	HP:0001511	Intrauterine growth retardation
285489	DOK7	HP:0030208	Anti-acetylcholine receptor antibody positivity
285489	DOK7	HP:0005245	Intestinal hypoplasia
285489	DOK7	HP:0030196	Fatigable weakness of respiratory muscles
285489	DOK7	HP:0030199	Fatigable weakness of neck muscles
285489	DOK7	HP:0000358	Posteriorly rotated ears
285489	DOK7	HP:0000347	Micrognathia
285489	DOK7	HP:0000316	Hypertelorism
285489	DOK7	HP:0030319	Weakness of facial musculature
285489	DOK7	HP:0005280	Depressed nasal bridge
285489	DOK7	HP:0012473	Tongue atrophy
285489	DOK7	HP:0000476	Cystic hygroma
285489	DOK7	HP:0000494	Downslanted palpebral fissures
285489	DOK7	HP:0000496	Abnormality of eye movement
285489	DOK7	HP:0000470	Short neck
285489	DOK7	HP:0001838	Rocker bottom foot
285489	DOK7	HP:0000508	Ptosis
285489	DOK7	HP:0000597	Ophthalmoparesis
285489	DOK7	HP:0001883	Talipes
285489	DOK7	HP:0012515	Hip flexor weakness
285498	RNF212	HP:0031039	Early spermatogenesis maturation arrest
285498	RNF212	HP:0000007	Autosomal recessive inheritance
285498	RNF212	HP:0011961	Non-obstructive azoospermia
285498	RNF212	HP:0003251	Male infertility
285590	SH3PXD2B	HP:0001156	Brachydactyly
285590	SH3PXD2B	HP:0010885	Avascular necrosis
285590	SH3PXD2B	HP:0020206	Simple ear
285590	SH3PXD2B	HP:0001270	Motor delay
285590	SH3PXD2B	HP:0001252	Hypotonia
285590	SH3PXD2B	HP:0001385	Hip dysplasia
285590	SH3PXD2B	HP:0001387	Joint stiffness
285590	SH3PXD2B	HP:0000023	Inguinal hernia
285590	SH3PXD2B	HP:0000007	Autosomal recessive inheritance
285590	SH3PXD2B	HP:0002650	Scoliosis
285590	SH3PXD2B	HP:0002645	Wormian bones
285590	SH3PXD2B	HP:0000187	Broad alveolar ridges
285590	SH3PXD2B	HP:0002797	Osteolysis
285590	SH3PXD2B	HP:0000154	Wide mouth
285590	SH3PXD2B	HP:0002751	Kyphoscoliosis
285590	SH3PXD2B	HP:0005989	Redundant neck skin
285590	SH3PXD2B	HP:0002079	Hypoplasia of the corpus callosum
285590	SH3PXD2B	HP:0004611	Anterior concavity of thoracic vertebrae
285590	SH3PXD2B	HP:0005916	Abnormal metacarpal morphology
285590	SH3PXD2B	HP:0100490	Camptodactyly of finger
285590	SH3PXD2B	HP:0002280	Enlarged cisterna magna
285590	SH3PXD2B	HP:0001061	Acne
285590	SH3PXD2B	HP:0001090	Abnormally large globe
285590	SH3PXD2B	HP:0001072	Thickened skin
285590	SH3PXD2B	HP:0009803	Short phalanx of finger
285590	SH3PXD2B	HP:0001087	Developmental glaucoma
285590	SH3PXD2B	HP:0003623	Neonatal onset
285590	SH3PXD2B	HP:0004209	Clinodactyly of the 5th finger
285590	SH3PXD2B	HP:0004279	Short palm
285590	SH3PXD2B	HP:0000684	Delayed eruption of teeth
285590	SH3PXD2B	HP:0000689	Dental malocclusion
285590	SH3PXD2B	HP:0003015	Flared metaphysis
285590	SH3PXD2B	HP:0003026	Short long bone
285590	SH3PXD2B	HP:0000771	Gynecomastia
285590	SH3PXD2B	HP:0000767	Pectus excavatum
285590	SH3PXD2B	HP:0005731	Cortical irregularity
285590	SH3PXD2B	HP:0000916	Broad clavicles
285590	SH3PXD2B	HP:0040016	Prominent coccyx
285590	SH3PXD2B	HP:0004568	Beaking of vertebral bodies
285590	SH3PXD2B	HP:0000957	Cafe-au-lait spot
285590	SH3PXD2B	HP:0000939	Osteoporosis
285590	SH3PXD2B	HP:0000938	Osteopenia
285590	SH3PXD2B	HP:0000280	Coarse facial features
285590	SH3PXD2B	HP:0000293	Full cheeks
285590	SH3PXD2B	HP:0000260	Wide anterior fontanel
285590	SH3PXD2B	HP:0000270	Delayed cranial suture closure
285590	SH3PXD2B	HP:0002816	Genu recurvatum
285590	SH3PXD2B	HP:0002808	Kyphosis
285590	SH3PXD2B	HP:0000248	Brachycephaly
285590	SH3PXD2B	HP:0000219	Thin upper lip vermilion
285590	SH3PXD2B	HP:0000218	High palate
285590	SH3PXD2B	HP:0000212	Gingival overgrowth
285590	SH3PXD2B	HP:0001537	Umbilical hernia
285590	SH3PXD2B	HP:0001510	Growth delay
285590	SH3PXD2B	HP:0012385	Camptodactyly
285590	SH3PXD2B	HP:0006480	Premature loss of teeth
285590	SH3PXD2B	HP:0006487	Bowing of the long bones
285590	SH3PXD2B	HP:0000369	Low-set ears
285590	SH3PXD2B	HP:0000337	Broad forehead
285590	SH3PXD2B	HP:0001684	Secundum atrial septal defect
285590	SH3PXD2B	HP:0000348	High forehead
285590	SH3PXD2B	HP:0000347	Micrognathia
285590	SH3PXD2B	HP:0000316	Hypertelorism
285590	SH3PXD2B	HP:0000322	Short philtrum
285590	SH3PXD2B	HP:0001655	Patent foramen ovale
285590	SH3PXD2B	HP:0001629	Ventricular septal defect
285590	SH3PXD2B	HP:0001631	Atrial septal defect
285590	SH3PXD2B	HP:0000303	Mandibular prognathia
285590	SH3PXD2B	HP:0001634	Mitral valve prolapse
285590	SH3PXD2B	HP:0001719	Double outlet right ventricle
285590	SH3PXD2B	HP:0005280	Depressed nasal bridge
285590	SH3PXD2B	HP:0000485	Megalocornea
285590	SH3PXD2B	HP:0012471	Thick vermilion border
285590	SH3PXD2B	HP:0000494	Downslanted palpebral fissures
285590	SH3PXD2B	HP:0000490	Deeply set eye
285590	SH3PXD2B	HP:0000463	Anteverted nares
285590	SH3PXD2B	HP:0000455	Broad nasal tip
285590	SH3PXD2B	HP:0001776	Bilateral talipes equinovarus
285590	SH3PXD2B	HP:0000411	Protruding ear
285590	SH3PXD2B	HP:0001762	Talipes equinovarus
285590	SH3PXD2B	HP:0000431	Wide nasal bridge
285590	SH3PXD2B	HP:0005469	Flat occiput
285590	SH3PXD2B	HP:0001840	Metatarsus adductus
285590	SH3PXD2B	HP:0000520	Proptosis
285590	SH3PXD2B	HP:0011220	Prominent forehead
285590	SH3PXD2B	HP:0000557	Buphthalmos
285600	KIAA0825	HP:0001162	Postaxial hand polydactyly
285600	KIAA0825	HP:0000007	Autosomal recessive inheritance
285600	KIAA0825	HP:0005696	Postaxial polydactyly type A
285600	KIAA0825	HP:0001830	Postaxial foot polydactyly
285848	PNPLA1	HP:0025114	Hypergranulosis
285848	PNPLA1	HP:0007503	Generalized ichthyosis
285848	PNPLA1	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
285848	PNPLA1	HP:0000007	Autosomal recessive inheritance
285848	PNPLA1	HP:0003577	Congenital onset
285848	PNPLA1	HP:0001019	Erythroderma
285848	PNPLA1	HP:0200020	Corneal erosion
285848	PNPLA1	HP:0025080	Orthokeratotic hyperkeratosis
285848	PNPLA1	HP:0000656	Ectropion
285848	PNPLA1	HP:0004322	Short stature
285848	PNPLA1	HP:0000989	Pruritus
285848	PNPLA1	HP:0000982	Palmoplantar keratoderma
285848	PNPLA1	HP:0000966	Hypohidrosis
285848	PNPLA1	HP:0000962	Hyperkeratosis
285848	PNPLA1	HP:0008064	Ichthyosis
285848	PNPLA1	HP:0001597	Abnormality of the nail
285848	PNPLA1	HP:0001596	Alopecia
285848	PNPLA1	HP:0001508	Failure to thrive
285848	PNPLA1	HP:0000365	Hearing impairment
285848	PNPLA1	HP:0000491	Keratitis
286053	NSMCE2	HP:0001397	Hepatic steatosis
286053	NSMCE2	HP:0008890	Severe short-limb dwarfism
286053	NSMCE2	HP:0000007	Autosomal recessive inheritance
286053	NSMCE2	HP:0040270	Impaired glucose tolerance
286053	NSMCE2	HP:0008193	Primary gonadal insufficiency
286053	NSMCE2	HP:0002155	Hypertriglyceridemia
286053	NSMCE2	HP:0010609	Skin tags
286053	NSMCE2	HP:0008232	Elevated circulating follicle stimulating hormone level
286053	NSMCE2	HP:0010579	Cone-shaped epiphysis
286053	NSMCE2	HP:0011969	Elevated circulating luteinizing hormone level
286053	NSMCE2	HP:0010620	Malar prominence
286053	NSMCE2	HP:0003510	Severe short stature
286053	NSMCE2	HP:0001952	Glucose intolerance
286053	NSMCE2	HP:0031956	Elevated circulating aspartate aminotransferase concentration
286053	NSMCE2	HP:0031964	Elevated circulating alanine aminotransferase concentration
286053	NSMCE2	HP:0003076	Glycosuria
286053	NSMCE2	HP:0003016	Metaphyseal widening
286053	NSMCE2	HP:0003100	Slender long bone
286053	NSMCE2	HP:0000855	Insulin resistance
286053	NSMCE2	HP:0000831	Insulin-resistant diabetes mellitus
286053	NSMCE2	HP:0000819	Diabetes mellitus
286053	NSMCE2	HP:0000822	Hypertension
286053	NSMCE2	HP:0040217	Elevated hemoglobin A1c
286053	NSMCE2	HP:0000956	Acanthosis nigricans
286053	NSMCE2	HP:0005112	Abdominal aortic aneurysm
286053	NSMCE2	HP:0000252	Microcephaly
286053	NSMCE2	HP:0012371	Hyperplasia of midface
286053	NSMCE2	HP:0007875	Congenital blindness
286053	NSMCE2	HP:0000347	Micrognathia
286053	NSMCE2	HP:0000308	Microretrognathia
286053	NSMCE2	HP:0001635	Congestive heart failure
286053	NSMCE2	HP:0001735	Acute pancreatitis
286053	NSMCE2	HP:0001714	Ventricular hypertrophy
286053	NSMCE2	HP:0000541	Retinal detachment
286077	FAM83H	HP:0000006	Autosomal dominant inheritance
286077	FAM83H	HP:0000689	Dental malocclusion
286077	FAM83H	HP:0009102	Anterior open-bite malocclusion
286077	FAM83H	HP:0000705	Amelogenesis imperfecta
286151	FBXO43	HP:0000007	Autosomal recessive inheritance
286151	FBXO43	HP:0008222	Female infertility
286151	FBXO43	HP:0033335	Abnormal preimplantation embryonic development
286151	FBXO43	HP:0034011	Reduced progressive sperm motility
286151	FBXO43	HP:0011462	Young adult onset
286151	FBXO43	HP:0000798	Oligospermia
286151	FBXO43	HP:0012865	Abnormal sperm head morphology
286151	FBXO43	HP:0003251	Male infertility
286204	CRB2	HP:0003774	Stage 5 chronic kidney disease
286204	CRB2	HP:0002586	Peritonitis
286204	CRB2	HP:0001250	Seizure
286204	CRB2	HP:0000083	Renal insufficiency
286204	CRB2	HP:0000097	Focal segmental glomerulosclerosis
286204	CRB2	HP:0000093	Proteinuria
286204	CRB2	HP:0000007	Autosomal recessive inheritance
286204	CRB2	HP:0002617	Vascular dilatation
286204	CRB2	HP:0000108	Renal corticomedullary cysts
286204	CRB2	HP:0002027	Abdominal pain
286204	CRB2	HP:0100539	Periorbital edema
286204	CRB2	HP:0002119	Ventriculomegaly
286204	CRB2	HP:0003593	Infantile onset
286204	CRB2	HP:0003577	Congenital onset
286204	CRB2	HP:0002282	Gray matter heterotopia
286204	CRB2	HP:0011947	Respiratory tract infection
286204	CRB2	HP:0002315	Headache
286204	CRB2	HP:0003621	Juvenile onset
286204	CRB2	HP:0012622	Chronic kidney disease
286204	CRB2	HP:0001967	Diffuse mesangial sclerosis
286204	CRB2	HP:0001945	Fever
286204	CRB2	HP:0003073	Hypoalbuminemia
286204	CRB2	HP:0000737	Irritability
286204	CRB2	HP:0000707	Abnormality of the nervous system
286204	CRB2	HP:0011463	Childhood onset
286204	CRB2	HP:0100259	Postaxial polydactyly
286204	CRB2	HP:0000969	Edema
286204	CRB2	HP:0000238	Hydrocephalus
286204	CRB2	HP:0001561	Polyhydramnios
286204	CRB2	HP:0031504	Foamy urine
286204	CRB2	HP:0001629	Ventricular septal defect
286204	CRB2	HP:0001622	Premature birth
286204	CRB2	HP:0012588	Steroid-resistant nephrotic syndrome
286204	CRB2	HP:0012579	Minimal change glomerulonephritis
286262	TPRN	HP:0000007	Autosomal recessive inheritance
286262	TPRN	HP:0000750	Delayed speech and language development
286262	TPRN	HP:0000408	Progressive sensorineural hearing impairment
286262	TPRN	HP:0000407	Sensorineural hearing impairment
286410	ATP11C	HP:0001419	X-linked recessive inheritance
286410	ATP11C	HP:0040319	Dark urine
286410	ATP11C	HP:0003577	Congenital onset
286410	ATP11C	HP:0000952	Jaundice
286410	ATP11C	HP:0001878	Hemolytic anemia
286464	CFAP47	HP:0032558	Absent sperm flagella
286464	CFAP47	HP:0032559	Short sperm flagella
286464	CFAP47	HP:0032560	Coiled sperm flagella
286464	CFAP47	HP:0001419	X-linked recessive inheritance
286464	CFAP47	HP:0033393	Irregularly shaped sperm tail
286464	CFAP47	HP:0000798	Oligospermia
286464	CFAP47	HP:0003251	Male infertility
286464	CFAP47	HP:0012207	Reduced sperm motility
286676	ILDR1	HP:0000007	Autosomal recessive inheritance
286676	ILDR1	HP:0003593	Infantile onset
286676	ILDR1	HP:0003680	Nonprogressive
286676	ILDR1	HP:0000407	Sensorineural hearing impairment
286887	KRT6C	HP:0007556	Plantar hyperkeratosis
286887	KRT6C	HP:0000006	Autosomal dominant inheritance
286887	KRT6C	HP:0002745	Oral leukoplakia
286887	KRT6C	HP:0025092	Epidermal acanthosis
286887	KRT6C	HP:0000982	Palmoplantar keratoderma
317662	FAM149B1	HP:0001156	Brachydactyly
317662	FAM149B1	HP:0001161	Hand polydactyly
317662	FAM149B1	HP:0001159	Syndactyly
317662	FAM149B1	HP:0002444	Hypothalamic hamartoma
317662	FAM149B1	HP:0002419	Molar tooth sign on MRI
317662	FAM149B1	HP:0001290	Generalized hypotonia
317662	FAM149B1	HP:0001288	Gait disturbance
317662	FAM149B1	HP:0001250	Seizure
317662	FAM149B1	HP:0001252	Hypotonia
317662	FAM149B1	HP:0001251	Ataxia
317662	FAM149B1	HP:0001249	Intellectual disability
317662	FAM149B1	HP:0001263	Global developmental delay
317662	FAM149B1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
317662	FAM149B1	HP:0008689	Bilateral cryptorchidism
317662	FAM149B1	HP:0008678	Renal hypoplasia/aplasia
317662	FAM149B1	HP:0002553	Highly arched eyebrow
317662	FAM149B1	HP:0008872	Feeding difficulties in infancy
317662	FAM149B1	HP:0006159	Mesoaxial hand polydactyly
317662	FAM149B1	HP:0006145	Central Y-shaped metacarpal
317662	FAM149B1	HP:0000007	Autosomal recessive inheritance
317662	FAM149B1	HP:0001337	Tremor
317662	FAM149B1	HP:0001320	Cerebellar vermis hypoplasia
317662	FAM149B1	HP:0000180	Lobulated tongue
317662	FAM149B1	HP:0000199	Tongue nodules
317662	FAM149B1	HP:0000194	Open mouth
317662	FAM149B1	HP:0000190	Abnormal oral frenulum morphology
317662	FAM149B1	HP:0000175	Cleft palate
317662	FAM149B1	HP:0000104	Renal agenesis
317662	FAM149B1	HP:0002007	Frontal bossing
317662	FAM149B1	HP:0011802	Hamartoma of tongue
317662	FAM149B1	HP:0002104	Apnea
317662	FAM149B1	HP:0002269	Abnormality of neuronal migration
317662	FAM149B1	HP:0007036	Hypoplasia of olfactory tract
317662	FAM149B1	HP:0009084	Midline notch of upper alveolar ridge
317662	FAM149B1	HP:0000639	Nystagmus
317662	FAM149B1	HP:0004322	Short stature
317662	FAM149B1	HP:0000768	Pectus carinatum
317662	FAM149B1	HP:0004422	Biparietal narrowing
317662	FAM149B1	HP:0040019	Finger clinodactyly
317662	FAM149B1	HP:0100260	Mesoaxial polydactyly
317662	FAM149B1	HP:0100258	Preaxial polydactyly
317662	FAM149B1	HP:0000286	Epicanthus
317662	FAM149B1	HP:0000256	Macrocephaly
317662	FAM149B1	HP:0000276	Long face
317662	FAM149B1	HP:0000218	High palate
317662	FAM149B1	HP:0002876	Episodic tachypnea
317662	FAM149B1	HP:0001508	Failure to thrive
317662	FAM149B1	HP:0001510	Growth delay
317662	FAM149B1	HP:0000368	Low-set, posteriorly rotated ears
317662	FAM149B1	HP:0000347	Micrognathia
317662	FAM149B1	HP:0000316	Hypertelorism
317662	FAM149B1	HP:0001627	Abnormal heart morphology
317662	FAM149B1	HP:0000407	Sensorineural hearing impairment
317662	FAM149B1	HP:0000405	Conductive hearing impairment
317662	FAM149B1	HP:0000486	Strabismus
317662	FAM149B1	HP:0000463	Anteverted nares
317662	FAM149B1	HP:0000455	Broad nasal tip
317662	FAM149B1	HP:0000426	Prominent nasal bridge
317662	FAM149B1	HP:0001829	Foot polydactyly
317662	FAM149B1	HP:0000508	Ptosis
317662	FAM149B1	HP:0011220	Prominent forehead
317662	FAM149B1	HP:0000565	Esotropia
317719	KLHL10	HP:0008734	Decreased testicular size
317719	KLHL10	HP:0008669	Abnormal spermatogenesis
317719	KLHL10	HP:0000027	Azoospermia
317719	KLHL10	HP:0000006	Autosomal dominant inheritance
317719	KLHL10	HP:0000118	Phenotypic abnormality
317719	KLHL10	HP:0011961	Non-obstructive azoospermia
317719	KLHL10	HP:0011962	Obstructive azoospermia
317719	KLHL10	HP:0000798	Oligospermia
317719	KLHL10	HP:0012864	Abnormal sperm morphology
317719	KLHL10	HP:0000837	Increased circulating gonadotropin level
317719	KLHL10	HP:0003251	Male infertility
317719	KLHL10	HP:0012207	Reduced sperm motility
317761	C14orf39	HP:0008724	Hypoplasia of the ovary
317761	C14orf39	HP:0000027	Azoospermia
317761	C14orf39	HP:0000013	Hypoplasia of the uterus
317761	C14orf39	HP:0000007	Autosomal recessive inheritance
317761	C14orf39	HP:0031103	Decreased cirrculating antimullerian hormone circulation
317761	C14orf39	HP:0008232	Elevated circulating follicle stimulating hormone level
317761	C14orf39	HP:0008209	Premature ovarian insufficiency
317761	C14orf39	HP:0011969	Elevated circulating luteinizing hormone level
317761	C14orf39	HP:0011462	Young adult onset
317761	C14orf39	HP:0000858	Irregular menstruation
317761	C14orf39	HP:0000869	Secondary amenorrhea
317761	C14orf39	HP:0003251	Male infertility
317761	C14orf39	HP:0025709	Intermediate young adult onset
326625	MMAB	HP:0001290	Generalized hypotonia
326625	MMAB	HP:0001254	Lethargy
326625	MMAB	HP:0001252	Hypotonia
326625	MMAB	HP:0001263	Global developmental delay
326625	MMAB	HP:0001259	Coma
326625	MMAB	HP:0008872	Feeding difficulties in infancy
326625	MMAB	HP:0000007	Autosomal recessive inheritance
326625	MMAB	HP:0012120	Methylmalonic aciduria
326625	MMAB	HP:0002013	Vomiting
326625	MMAB	HP:0002098	Respiratory distress
326625	MMAB	HP:0002154	Hyperglycinemia
326625	MMAB	HP:0002240	Hepatomegaly
326625	MMAB	HP:0003623	Neonatal onset
326625	MMAB	HP:0001944	Dehydration
326625	MMAB	HP:0001946	Ketosis
326625	MMAB	HP:0001942	Metabolic acidosis
326625	MMAB	HP:0001903	Anemia
326625	MMAB	HP:0001987	Hyperammonemia
326625	MMAB	HP:0040126	Abnormal vitamin B12 level
326625	MMAB	HP:0003145	Decreased adenosylcobalamin
326625	MMAB	HP:0003210	Decreased methylmalonyl-CoA mutase activity
326625	MMAB	HP:0001508	Failure to thrive
326625	MMAB	HP:0002919	Ketonuria
326625	MMAB	HP:0002912	Methylmalonic acidemia
326625	MMAB	HP:0001873	Thrombocytopenia
326625	MMAB	HP:0001876	Pancytopenia
326625	MMAB	HP:0001875	Neutropenia
337867	UBAC2	HP:0007256	Abnormal pyramidal sign
337867	UBAC2	HP:0010885	Avascular necrosis
337867	UBAC2	HP:0100820	Glomerulopathy
337867	UBAC2	HP:0001269	Hemiparesis
337867	UBAC2	HP:0001287	Meningitis
337867	UBAC2	HP:0001289	Confusion
337867	UBAC2	HP:0001288	Gait disturbance
337867	UBAC2	HP:0001250	Seizure
337867	UBAC2	HP:0001251	Ataxia
337867	UBAC2	HP:0002516	Increased intracranial pressure
337867	UBAC2	HP:0000083	Renal insufficiency
337867	UBAC2	HP:0001369	Arthritis
337867	UBAC2	HP:0001347	Hyperreflexia
337867	UBAC2	HP:0002637	Cerebral ischemia
337867	UBAC2	HP:0002633	Vasculitis
337867	UBAC2	HP:0000155	Oral ulcer
337867	UBAC2	HP:0001482	Subcutaneous nodule
337867	UBAC2	HP:0002716	Lymphadenopathy
337867	UBAC2	HP:0002024	Malabsorption
337867	UBAC2	HP:0002017	Nausea and vomiting
337867	UBAC2	HP:0002027	Abdominal pain
337867	UBAC2	HP:0003326	Myalgia
337867	UBAC2	HP:0002076	Migraine
337867	UBAC2	HP:0002039	Anorexia
337867	UBAC2	HP:0100584	Endocarditis
337867	UBAC2	HP:0002102	Pleuritis
337867	UBAC2	HP:0002113	Pulmonary infiltrates
337867	UBAC2	HP:0002105	Hemoptysis
337867	UBAC2	HP:0003401	Paresthesia
337867	UBAC2	HP:0002239	Gastrointestinal hemorrhage
337867	UBAC2	HP:0002202	Pleural effusion
337867	UBAC2	HP:0002204	Pulmonary embolism
337867	UBAC2	HP:0100796	Orchitis
337867	UBAC2	HP:0100758	Gangrene
337867	UBAC2	HP:0002383	Infectious encephalitis
337867	UBAC2	HP:0001061	Acne
337867	UBAC2	HP:0002376	Developmental regression
337867	UBAC2	HP:0002354	Memory impairment
337867	UBAC2	HP:0002321	Vertigo
337867	UBAC2	HP:0100653	Optic neuritis
337867	UBAC2	HP:0100654	Retrobulbar optic neuritis
337867	UBAC2	HP:0200034	Papule
337867	UBAC2	HP:0001097	Keratoconjunctivitis sicca
337867	UBAC2	HP:0100614	Myositis
337867	UBAC2	HP:0004936	Venous thrombosis
337867	UBAC2	HP:0006824	Cranial nerve paralysis
337867	UBAC2	HP:0000618	Blindness
337867	UBAC2	HP:0000613	Photophobia
337867	UBAC2	HP:0001945	Fever
337867	UBAC2	HP:0012649	Increased inflammatory response
337867	UBAC2	HP:0000737	Irritability
337867	UBAC2	HP:0000708	Atypical behavior
337867	UBAC2	HP:0004420	Arterial thrombosis
337867	UBAC2	HP:0100326	Immunologic hypersensitivity
337867	UBAC2	HP:0008066	Abnormal blistering of the skin
337867	UBAC2	HP:0002829	Arthralgia
337867	UBAC2	HP:0012378	Fatigue
337867	UBAC2	HP:0001658	Myocardial infarction
337867	UBAC2	HP:0001659	Aortic regurgitation
337867	UBAC2	HP:0001653	Mitral regurgitation
337867	UBAC2	HP:0001637	Abnormal myocardium morphology
337867	UBAC2	HP:0001733	Pancreatitis
337867	UBAC2	HP:0001701	Pericarditis
337867	UBAC2	HP:0000488	Retinopathy
337867	UBAC2	HP:0011107	Recurrent aphthous stomatitis
337867	UBAC2	HP:0001744	Splenomegaly
337867	UBAC2	HP:0000518	Cataract
337867	UBAC2	HP:0001824	Weight loss
338328	GPIHBP1	HP:0002583	Colitis
338328	GPIHBP1	HP:0010980	Hyperlipoproteinemia
338328	GPIHBP1	HP:0000007	Autosomal recessive inheritance
338328	GPIHBP1	HP:0002155	Hypertriglyceridemia
338328	GPIHBP1	HP:0002240	Hepatomegaly
338328	GPIHBP1	HP:0003563	Decreased LDL cholesterol concentration
338328	GPIHBP1	HP:0001013	Eruptive xanthomas
338328	GPIHBP1	HP:0000660	Lipemia retinalis
338328	GPIHBP1	HP:0100027	Recurrent pancreatitis
338328	GPIHBP1	HP:0011463	Childhood onset
338328	GPIHBP1	HP:0003233	Decreased HDL cholesterol concentration
338328	GPIHBP1	HP:0012238	Increased circulating chylomicron concentration
338328	GPIHBP1	HP:0001508	Failure to thrive
338328	GPIHBP1	HP:0005181	Premature coronary artery atherosclerosis
338328	GPIHBP1	HP:0001733	Pancreatitis
338328	GPIHBP1	HP:0001744	Splenomegaly
338328	GPIHBP1	HP:0025708	Early young adult onset
338433	SNORD115-1	HP:0001159	Syndactyly
338433	SNORD115-1	HP:0007328	Impaired pain sensation
338433	SNORD115-1	HP:0003745	Sporadic
338433	SNORD115-1	HP:0001290	Generalized hypotonia
338433	SNORD115-1	HP:0001270	Motor delay
338433	SNORD115-1	HP:0001250	Seizure
338433	SNORD115-1	HP:0001249	Intellectual disability
338433	SNORD115-1	HP:0002591	Polyphagia
338433	SNORD115-1	HP:0001263	Global developmental delay
338433	SNORD115-1	HP:0000064	Hypoplastic labia minora
338433	SNORD115-1	HP:0000060	Clitoral hypoplasia
338433	SNORD115-1	HP:0000044	Hypogonadotropic hypogonadism
338433	SNORD115-1	HP:0000046	Small scrotum
338433	SNORD115-1	HP:0000054	Micropenis
338433	SNORD115-1	HP:0001385	Hip dysplasia
338433	SNORD115-1	HP:0000028	Cryptorchidism
338433	SNORD115-1	HP:0008872	Feeding difficulties in infancy
338433	SNORD115-1	HP:0007513	Generalized hypopigmentation
338433	SNORD115-1	HP:0001328	Specific learning disability
338433	SNORD115-1	HP:0000006	Autosomal dominant inheritance
338433	SNORD115-1	HP:0002650	Scoliosis
338433	SNORD115-1	HP:0001319	Neonatal hypotonia
338433	SNORD115-1	HP:0002791	Hypoventilation
338433	SNORD115-1	HP:0002714	Downturned corners of mouth
338433	SNORD115-1	HP:0002033	Poor suck
338433	SNORD115-1	HP:0005968	Temperature instability
338433	SNORD115-1	HP:0005978	Type II diabetes mellitus
338433	SNORD115-1	HP:0030919	Low 5-minute APGAR score
338433	SNORD115-1	HP:0030918	Low 1-minute APGAR score
338433	SNORD115-1	HP:0009466	Radial deviation of finger
338433	SNORD115-1	HP:0002119	Ventriculomegaly
338433	SNORD115-1	HP:0010535	Sleep apnea
338433	SNORD115-1	HP:0003577	Congenital onset
338433	SNORD115-1	HP:0002236	Frontal upsweep of hair
338433	SNORD115-1	HP:0100716	Self-injurious behavior
338433	SNORD115-1	HP:0002205	Recurrent respiratory infections
338433	SNORD115-1	HP:0007010	Poor fine motor coordination
338433	SNORD115-1	HP:0007015	Poor gross motor coordination
338433	SNORD115-1	HP:0007018	Attention deficit hyperactivity disorder
338433	SNORD115-1	HP:0002360	Sleep disturbance
338433	SNORD115-1	HP:0001010	Hypopigmentation of the skin
338433	SNORD115-1	HP:0200055	Small hand
338433	SNORD115-1	HP:0033454	Tube feeding
338433	SNORD115-1	HP:0031878	Acromicria
338433	SNORD115-1	HP:0004283	Narrow palm
338433	SNORD115-1	HP:0005599	Hypopigmentation of hair
338433	SNORD115-1	HP:0004279	Short palm
338433	SNORD115-1	HP:0000670	Carious teeth
338433	SNORD115-1	HP:0004322	Short stature
338433	SNORD115-1	HP:0012743	Abdominal obesity
338433	SNORD115-1	HP:0000750	Delayed speech and language development
338433	SNORD115-1	HP:0000717	Autism
338433	SNORD115-1	HP:0000709	Psychosis
338433	SNORD115-1	HP:0011461	Fetal onset
338433	SNORD115-1	HP:0000789	Infertility
338433	SNORD115-1	HP:0000786	Primary amenorrhea
338433	SNORD115-1	HP:0003199	Decreased muscle mass
338433	SNORD115-1	HP:0000876	Oligomenorrhea
338433	SNORD115-1	HP:0000846	Adrenal insufficiency
338433	SNORD115-1	HP:0000842	Hyperinsulinemia
338433	SNORD115-1	HP:0000826	Precocious puberty
338433	SNORD115-1	HP:0000824	Decreased response to growth hormone stimulation test
338433	SNORD115-1	HP:0000823	Delayed puberty
338433	SNORD115-1	HP:0003241	External genital hypoplasia
338433	SNORD115-1	HP:0000992	Cutaneous photosensitivity
338433	SNORD115-1	HP:0000939	Osteoporosis
338433	SNORD115-1	HP:0000938	Osteopenia
338433	SNORD115-1	HP:0000268	Dolichocephaly
338433	SNORD115-1	HP:0007730	Iris hypopigmentation
338433	SNORD115-1	HP:0030084	Clinodactyly
338433	SNORD115-1	HP:0002808	Kyphosis
338433	SNORD115-1	HP:0000219	Thin upper lip vermilion
338433	SNORD115-1	HP:0001562	Oligohydramnios
338433	SNORD115-1	HP:0001561	Polyhydramnios
338433	SNORD115-1	HP:0001558	Decreased fetal movement
338433	SNORD115-1	HP:0001531	Failure to thrive in infancy
338433	SNORD115-1	HP:0002857	Genu valgum
338433	SNORD115-1	HP:0001511	Intrauterine growth retardation
338433	SNORD115-1	HP:0001513	Obesity
338433	SNORD115-1	HP:0007874	Almond-shaped palpebral fissure
338433	SNORD115-1	HP:0000341	Narrow forehead
338433	SNORD115-1	HP:0001623	Breech presentation
338433	SNORD115-1	HP:0000486	Strabismus
338433	SNORD115-1	HP:0001773	Short foot
338433	SNORD115-1	HP:0000446	Narrow nasal bridge
338433	SNORD115-1	HP:0000582	Upslanted palpebral fissure
338433	SNORD115-1	HP:0000565	Esotropia
338433	SNORD115-1	HP:0000540	Hypermetropia
338433	SNORD115-1	HP:0000545	Myopia
338567	KCNK18	HP:0000006	Autosomal dominant inheritance
338567	KCNK18	HP:0002083	Migraine without aura
338567	KCNK18	HP:0002077	Migraine with aura
338657	CENATAC	HP:0000007	Autosomal recessive inheritance
338657	CENATAC	HP:0011342	Mild global developmental delay
338657	CENATAC	HP:0003220	Abnormality of chromosome stability
338657	CENATAC	HP:0000252	Microcephaly
338917	VSX2	HP:0001249	Intellectual disability
338917	VSX2	HP:0000007	Autosomal recessive inheritance
338917	VSX2	HP:0003577	Congenital onset
338917	VSX2	HP:0000612	Iris coloboma
338917	VSX2	HP:0007759	Opacification of the corneal stroma
338917	VSX2	HP:0000518	Cataract
338917	VSX2	HP:0000568	Microphthalmia
339453	TMEM240	HP:0001272	Cerebellar atrophy
339453	TMEM240	HP:0001268	Mental deterioration
339453	TMEM240	HP:0001251	Ataxia
339453	TMEM240	HP:0001249	Intellectual disability
339453	TMEM240	HP:0001265	Hyporeflexia
339453	TMEM240	HP:0001260	Dysarthria
339453	TMEM240	HP:0001263	Global developmental delay
339453	TMEM240	HP:0007338	Hypermetric saccades
339453	TMEM240	HP:0001332	Dystonia
339453	TMEM240	HP:0001337	Tremor
339453	TMEM240	HP:0000006	Autosomal dominant inheritance
339453	TMEM240	HP:0001300	Parkinsonism
339453	TMEM240	HP:0002080	Intention tremor
339453	TMEM240	HP:0100543	Cognitive impairment
339453	TMEM240	HP:0002066	Gait ataxia
339453	TMEM240	HP:0002063	Rigidity
339453	TMEM240	HP:0002073	Progressive cerebellar ataxia
339453	TMEM240	HP:0002070	Limb ataxia
339453	TMEM240	HP:0002071	Abnormality of extrapyramidal motor function
339453	TMEM240	HP:0002188	Delayed CNS myelination
339453	TMEM240	HP:0002168	Scanning speech
339453	TMEM240	HP:0002174	Postural tremor
339453	TMEM240	HP:0010543	Opsoclonus
339453	TMEM240	HP:0010526	Dysgraphia
339453	TMEM240	HP:0003596	Middle age onset
339453	TMEM240	HP:0100710	Impulsivity
339453	TMEM240	HP:0002396	Cogwheel rigidity
339453	TMEM240	HP:0003677	Slowly progressive
339453	TMEM240	HP:0003623	Neonatal onset
339453	TMEM240	HP:0002304	Akinesia
339453	TMEM240	HP:0006855	Cerebellar vermis atrophy
339453	TMEM240	HP:0000639	Nystagmus
339453	TMEM240	HP:0000651	Diplopia
339453	TMEM240	HP:0000741	Apathy
339453	TMEM240	HP:0000718	Aggressive behavior
339453	TMEM240	HP:0000708	Atypical behavior
339453	TMEM240	HP:0011463	Childhood onset
339453	TMEM240	HP:0007792	Microsaccadic pursuit
339453	TMEM240	HP:0007944	Intermittent microsaccadic pursuits
339453	TMEM240	HP:0000486	Strabismus
339453	TMEM240	HP:0000514	Slow saccadic eye movements
339829	CCDC39	HP:0025177	Peribronchovascular interstitial thickening
339829	CCDC39	HP:0002566	Intestinal malrotation
339829	CCDC39	HP:0001217	Clubbing
339829	CCDC39	HP:0000007	Autosomal recessive inheritance
339829	CCDC39	HP:0002643	Neonatal respiratory distress
339829	CCDC39	HP:0000119	Abnormality of the genitourinary system
339829	CCDC39	HP:0032543	Lithoptysis
339829	CCDC39	HP:0031245	Productive cough
339829	CCDC39	HP:0002011	Morphological central nervous system abnormality
339829	CCDC39	HP:0100582	Nasal polyposis
339829	CCDC39	HP:0002119	Ventriculomegaly
339829	CCDC39	HP:0002110	Bronchiectasis
339829	CCDC39	HP:0008222	Female infertility
339829	CCDC39	HP:0003593	Infantile onset
339829	CCDC39	HP:0003577	Congenital onset
339829	CCDC39	HP:0002257	Chronic rhinitis
339829	CCDC39	HP:0002205	Recurrent respiratory infections
339829	CCDC39	HP:0100750	Atelectasis
339829	CCDC39	HP:0032016	Abnormal sputum
339829	CCDC39	HP:0011947	Respiratory tract infection
339829	CCDC39	HP:0010772	Anomalous pulmonary venous return
339829	CCDC39	HP:0003621	Juvenile onset
339829	CCDC39	HP:0030680	Abnormality of cardiovascular system morphology
339829	CCDC39	HP:0012735	Cough
339829	CCDC39	HP:0000750	Delayed speech and language development
339829	CCDC39	HP:0011463	Childhood onset
339829	CCDC39	HP:0011462	Young adult onset
339829	CCDC39	HP:0000924	Abnormality of the skeletal system
339829	CCDC39	HP:0004469	Chronic bronchitis
339829	CCDC39	HP:0011539	Atrial situs ambiguous
339829	CCDC39	HP:0011535	Abnormal atrial arrangement
339829	CCDC39	HP:0030853	Heterotaxy
339829	CCDC39	HP:0030828	Wheezing
339829	CCDC39	HP:0003251	Male infertility
339829	CCDC39	HP:0011617	Pulmonary situs ambiguus
339829	CCDC39	HP:0025576	Abnormal inferior vena cava morphology
339829	CCDC39	HP:0012257	Absent inner dynein arms
339829	CCDC39	HP:0012258	Abnormal axonemal organization of respiratory motile cilia
339829	CCDC39	HP:0012265	Ciliary dyskinesia
339829	CCDC39	HP:0012262	Abnormal ciliary motility
339829	CCDC39	HP:0031417	Rhinorrhea
339829	CCDC39	HP:0000238	Hydrocephalus
339829	CCDC39	HP:0012206	Abnormal sperm motility
339829	CCDC39	HP:0012207	Reduced sperm motility
339829	CCDC39	HP:0012208	Immotile sperm
339829	CCDC39	HP:0002878	Respiratory failure
339829	CCDC39	HP:0000389	Chronic otitis media
339829	CCDC39	HP:0000388	Otitis media
339829	CCDC39	HP:0006532	Recurrent pneumonia
339829	CCDC39	HP:0006536	Airway obstruction
339829	CCDC39	HP:0001696	Situs inversus totalis
339829	CCDC39	HP:0000365	Hearing impairment
339829	CCDC39	HP:0001669	Transposition of the great arteries
339829	CCDC39	HP:0031456	Ectopic pregnancy
339829	CCDC39	HP:0001627	Abnormal heart morphology
339829	CCDC39	HP:0005301	Persistent left superior vena cava
339829	CCDC39	HP:0000403	Recurrent otitis media
339829	CCDC39	HP:0000405	Conductive hearing impairment
339829	CCDC39	HP:0001719	Double outlet right ventricle
339829	CCDC39	HP:0011109	Chronic sinusitis
339829	CCDC39	HP:0001746	Asplenia
339829	CCDC39	HP:0001748	Polysplenia
339829	CCDC39	HP:0001742	Nasal congestion
339829	CCDC39	HP:0005425	Recurrent sinopulmonary infections
339829	CCDC39	HP:0011274	Recurrent mycobacterial infections
339829	CCDC39	HP:0000510	Rod-cone dystrophy
339855	KY	HP:0003798	Nemaline bodies
339855	KY	HP:0020203	Z-band streaming
339855	KY	HP:0007210	Lower limb amyotrophy
339855	KY	HP:0001272	Cerebellar atrophy
339855	KY	HP:0001249	Intellectual disability
339855	KY	HP:0001265	Hyporeflexia
339855	KY	HP:0001263	Global developmental delay
339855	KY	HP:0001371	Flexion contracture
339855	KY	HP:0000020	Urinary incontinence
339855	KY	HP:0001324	Muscle weakness
339855	KY	HP:0000007	Autosomal recessive inheritance
339855	KY	HP:0002650	Scoliosis
339855	KY	HP:0002607	Bowel incontinence
339855	KY	HP:0025435	Increased circulating lactate dehydrogenase concentration
339855	KY	HP:0008997	Proximal muscle weakness in upper limbs
339855	KY	HP:0002751	Kyphoscoliosis
339855	KY	HP:0003326	Myalgia
339855	KY	HP:0002015	Dysphagia
339855	KY	HP:0003306	Spinal rigidity
339855	KY	HP:0003394	Muscle spasm
339855	KY	HP:0002061	Lower limb spasticity
339855	KY	HP:0002059	Cerebral atrophy
339855	KY	HP:0003487	Babinski sign
339855	KY	HP:0010602	Type 2 muscle fiber predominance
339855	KY	HP:0002194	Delayed gross motor development
339855	KY	HP:0003577	Congenital onset
339855	KY	HP:0003557	Increased variability in muscle fiber diameter
339855	KY	HP:0010677	Enuresis nocturna
339855	KY	HP:0007020	Progressive spastic paraplegia
339855	KY	HP:0010628	Facial palsy
339855	KY	HP:0002395	Lower limb hyperreflexia
339855	KY	HP:0003698	Difficulty standing
339855	KY	HP:0002355	Difficulty walking
339855	KY	HP:0003677	Slowly progressive
339855	KY	HP:0009046	Difficulty running
339855	KY	HP:0009027	Foot dorsiflexor weakness
339855	KY	HP:0003044	Shoulder flexion contracture
339855	KY	HP:0009129	Upper limb amyotrophy
339855	KY	HP:0003093	Limited hip extension
339855	KY	HP:0040081	Abnormal circulating creatine kinase concentration
339855	KY	HP:0003236	Elevated circulating creatine kinase concentration
339855	KY	HP:0003202	Skeletal muscle atrophy
339855	KY	HP:0033008	Increased Z-disc width
339855	KY	HP:0002828	Multiple joint contractures
339855	KY	HP:0006380	Knee flexion contracture
339855	KY	HP:0030051	Tip-toe gait
339855	KY	HP:0002938	Lumbar hyperlordosis
339855	KY	HP:0002942	Thoracic kyphosis
339855	KY	HP:0002987	Elbow flexion contracture
339855	KY	HP:0012473	Tongue atrophy
339855	KY	HP:0001771	Achilles tendon contracture
339855	KY	HP:0001762	Talipes equinovarus
339855	KY	HP:0001761	Pes cavus
339855	KY	HP:0012531	Pain
339983	NAT8L	HP:0001290	Generalized hypotonia
339983	NAT8L	HP:0001250	Seizure
339983	NAT8L	HP:0001263	Global developmental delay
339983	NAT8L	HP:0025336	Delayed ability to sit
339983	NAT8L	HP:0000023	Inguinal hernia
339983	NAT8L	HP:0000007	Autosomal recessive inheritance
339983	NAT8L	HP:0002078	Truncal ataxia
339983	NAT8L	HP:0002136	Broad-based gait
339983	NAT8L	HP:0002317	Unsteady gait
339983	NAT8L	HP:0004325	Decreased body weight
339983	NAT8L	HP:0004322	Short stature
339983	NAT8L	HP:0000736	Short attention span
339983	NAT8L	HP:0000742	Self-mutilation
339983	NAT8L	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
339983	NAT8L	HP:0011463	Childhood onset
339983	NAT8L	HP:0000252	Microcephaly
339983	NAT8L	HP:0005484	Secondary microcephaly
340024	SLC6A19	HP:0001276	Hypertonia
340024	SLC6A19	HP:0001250	Seizure
340024	SLC6A19	HP:0001252	Hypotonia
340024	SLC6A19	HP:0001251	Ataxia
340024	SLC6A19	HP:0001249	Intellectual disability
340024	SLC6A19	HP:0001263	Global developmental delay
340024	SLC6A19	HP:0007400	Irregular hyperpigmentation
340024	SLC6A19	HP:0008672	Calcium oxalate nephrolithiasis
340024	SLC6A19	HP:0001347	Hyperreflexia
340024	SLC6A19	HP:0012086	Abnormal urinary color
340024	SLC6A19	HP:0000007	Autosomal recessive inheritance
340024	SLC6A19	HP:0000006	Autosomal dominant inheritance
340024	SLC6A19	HP:0002024	Malabsorption
340024	SLC6A19	HP:0002076	Migraine
340024	SLC6A19	HP:0002154	Hyperglycinemia
340024	SLC6A19	HP:0002131	Episodic ataxia
340024	SLC6A19	HP:0008353	Neutral hyperaminoaciduria
340024	SLC6A19	HP:0008358	Hyperprolinemia
340024	SLC6A19	HP:0007018	Attention deficit hyperactivity disorder
340024	SLC6A19	HP:0002383	Infectious encephalitis
340024	SLC6A19	HP:0001053	Hypopigmented skin patches
340024	SLC6A19	HP:0002353	EEG abnormality
340024	SLC6A19	HP:0010818	Generalized tonic seizure
340024	SLC6A19	HP:0000639	Nystagmus
340024	SLC6A19	HP:0000613	Photophobia
340024	SLC6A19	HP:0004322	Short stature
340024	SLC6A19	HP:0003080	Hydroxyprolinuria
340024	SLC6A19	HP:0000752	Hyperactivity
340024	SLC6A19	HP:0000738	Hallucinations
340024	SLC6A19	HP:0000739	Anxiety
340024	SLC6A19	HP:0000750	Delayed speech and language development
340024	SLC6A19	HP:0000712	Emotional lability
340024	SLC6A19	HP:0000709	Psychosis
340024	SLC6A19	HP:0011463	Childhood onset
340024	SLC6A19	HP:0003108	Hyperglycinuria
340024	SLC6A19	HP:0003137	Prolinuria
340024	SLC6A19	HP:0003260	Hydroxyprolinemia
340024	SLC6A19	HP:0000992	Cutaneous photosensitivity
340024	SLC6A19	HP:0000988	Skin rash
340024	SLC6A19	HP:0008066	Abnormal blistering of the skin
340024	SLC6A19	HP:0000230	Gingivitis
340024	SLC6A19	HP:0000206	Glossitis
340024	SLC6A19	HP:0000486	Strabismus
340024	SLC6A19	HP:0000478	Abnormality of the eye
340024	SLC6A19	HP:0000504	Abnormality of vision
340061	STING1	HP:0033505	Livedo reticularis
340061	STING1	HP:0032230	Cytoplasmic antineutrophil antibody positivity
340061	STING1	HP:0033605	Pustular rash
340061	STING1	HP:0001387	Joint stiffness
340061	STING1	HP:0025300	Malar rash
340061	STING1	HP:0000006	Autosomal dominant inheritance
340061	STING1	HP:0002789	Tachypnea
340061	STING1	HP:0002719	Recurrent infections
340061	STING1	HP:0002729	Follicular hyperplasia
340061	STING1	HP:0003493	Antinuclear antibody positivity
340061	STING1	HP:0033250	Nailfold capillary tortuosity
340061	STING1	HP:0033280	Paratracheal lymphadenopathy
340061	STING1	HP:0003593	Infantile onset
340061	STING1	HP:0003565	Elevated erythrocyte sedimentation rate
340061	STING1	HP:0002205	Recurrent respiratory infections
340061	STING1	HP:0002206	Pulmonary fibrosis
340061	STING1	HP:0008404	Nail dystrophy
340061	STING1	HP:0001009	Telangiectasia
340061	STING1	HP:0100614	Myositis
340061	STING1	HP:0200039	Pustule
340061	STING1	HP:0010783	Erythema
340061	STING1	HP:0003623	Neonatal onset
340061	STING1	HP:0003613	Antiphospholipid antibody positivity
340061	STING1	HP:0033425	Periungual erythema
340061	STING1	HP:0033434	Nasal septum perforation
340061	STING1	HP:0001954	Recurrent fever
340061	STING1	HP:0001903	Anemia
340061	STING1	HP:0003237	Increased circulating IgG level
340061	STING1	HP:0030880	Raynaud phenomenon
340061	STING1	HP:0003202	Skeletal muscle atrophy
340061	STING1	HP:0003261	Increased circulating IgA level
340061	STING1	HP:0000988	Skin rash
340061	STING1	HP:0000965	Cutis marmorata
340061	STING1	HP:0008070	Sparse hair
340061	STING1	HP:0002829	Arthralgia
340061	STING1	HP:0001508	Failure to thrive
340061	STING1	HP:0002923	Rheumatoid factor positive
340061	STING1	HP:0011227	Elevated circulating C-reactive protein concentration
340061	STING1	HP:0001894	Thrombocytosis
340061	STING1	HP:0001888	Lymphopenia
340061	STING1	HP:0001882	Leukopenia
340075	ARSI	HP:0007210	Lower limb amyotrophy
340075	ARSI	HP:0001284	Areflexia
340075	ARSI	HP:0001249	Intellectual disability
340075	ARSI	HP:0002509	Limb hypertonia
340075	ARSI	HP:0001301	Chronic sensorineural polyneuropathy
340075	ARSI	HP:0001321	Cerebellar hypoplasia
340075	ARSI	HP:0002064	Spastic gait
340075	ARSI	HP:0002061	Lower limb spasticity
340075	ARSI	HP:0002079	Hypoplasia of the corpus callosum
340075	ARSI	HP:0002166	Impaired vibration sensation in the lower limbs
340075	ARSI	HP:0007020	Progressive spastic paraplegia
340075	ARSI	HP:0002355	Difficulty walking
340075	ARSI	HP:0030048	Colpocephaly
340075	ARSI	HP:0001762	Talipes equinovarus
340419	RSPO2	HP:0009924	Aplasia/Hypoplasia involving the nose
340419	RSPO2	HP:0008551	Microtia
340419	RSPO2	HP:0001274	Agenesis of corpus callosum
340419	RSPO2	HP:0002561	Absent nipple
340419	RSPO2	HP:0100842	Septo-optic dysplasia
340419	RSPO2	HP:0003865	Bowed humerus
340419	RSPO2	HP:0000054	Micropenis
340419	RSPO2	HP:0000028	Cryptorchidism
340419	RSPO2	HP:0008839	Hypoplastic pelvis
340419	RSPO2	HP:0000007	Autosomal recessive inheritance
340419	RSPO2	HP:0000003	Multicystic kidney dysplasia
340419	RSPO2	HP:0000160	Narrow mouth
340419	RSPO2	HP:0000162	Glossoptosis
340419	RSPO2	HP:0000175	Cleft palate
340419	RSPO2	HP:0000148	Vaginal atresia
340419	RSPO2	HP:0002777	Tracheal stenosis
340419	RSPO2	HP:0002023	Anal atresia
340419	RSPO2	HP:0005944	Bilateral lung agenesis
340419	RSPO2	HP:0002057	Prominent glabella
340419	RSPO2	HP:0100569	Abnormally ossified vertebrae
340419	RSPO2	HP:0002101	Abnormal lung lobation
340419	RSPO2	HP:0003577	Congenital onset
340419	RSPO2	HP:0009827	Amelia
340419	RSPO2	HP:0009777	Absent thumb
340419	RSPO2	HP:0000648	Optic atrophy
340419	RSPO2	HP:0000612	Iris coloboma
340419	RSPO2	HP:0030674	Antenatal onset
340419	RSPO2	HP:0003057	Tetraamelia
340419	RSPO2	HP:0009103	Aplasia/Hypoplasia involving the pelvis
340419	RSPO2	HP:0000772	Abnormal rib morphology
340419	RSPO2	HP:0000776	Congenital diaphragmatic hernia
340419	RSPO2	HP:0000921	Missing ribs
340419	RSPO2	HP:0000882	Hypoplastic scapulae
340419	RSPO2	HP:0100336	Bilateral cleft lip
340419	RSPO2	HP:0010296	Ankyloglossia
340419	RSPO2	HP:0000894	Short clavicles
340419	RSPO2	HP:0000278	Retrognathia
340419	RSPO2	HP:0000238	Hydrocephalus
340419	RSPO2	HP:0001561	Polyhydramnios
340419	RSPO2	HP:0000202	Orofacial cleft
340419	RSPO2	HP:0001600	Abnormality of the larynx
340419	RSPO2	HP:0000369	Low-set ears
340419	RSPO2	HP:0000347	Micrognathia
340419	RSPO2	HP:0000316	Hypertelorism
340419	RSPO2	HP:0002987	Elbow flexion contracture
340419	RSPO2	HP:0001629	Ventricular septal defect
340419	RSPO2	HP:0000308	Microretrognathia
340419	RSPO2	HP:0005304	Hypoplastic pulmonary veins
340419	RSPO2	HP:0000482	Microcornea
340419	RSPO2	HP:0001776	Bilateral talipes equinovarus
340419	RSPO2	HP:0006703	Aplasia/Hypoplasia of the lungs
340419	RSPO2	HP:0006709	Aplasia/Hypoplasia of the nipples
340419	RSPO2	HP:0000518	Cataract
340419	RSPO2	HP:0000568	Microphthalmia
340533	NEXMIF	HP:0001159	Syndactyly
340533	NEXMIF	HP:0025190	Bilateral tonic-clonic seizure with generalized onset
340533	NEXMIF	HP:0009928	Thick nasal alae
340533	NEXMIF	HP:0007256	Abnormal pyramidal sign
340533	NEXMIF	HP:0007210	Lower limb amyotrophy
340533	NEXMIF	HP:0003763	Bruxism
340533	NEXMIF	HP:0025268	Stuttering
340533	NEXMIF	HP:0001250	Seizure
340533	NEXMIF	HP:0001252	Hypotonia
340533	NEXMIF	HP:0001251	Ataxia
340533	NEXMIF	HP:0001249	Intellectual disability
340533	NEXMIF	HP:0001263	Global developmental delay
340533	NEXMIF	HP:0002572	Episodic vomiting
340533	NEXMIF	HP:0410263	Brain imaging abnormality
340533	NEXMIF	HP:0100851	Abnormal emotion/affect behavior
340533	NEXMIF	HP:0007359	Focal-onset seizure
340533	NEXMIF	HP:0002521	Hypsarrhythmia
340533	NEXMIF	HP:0025336	Delayed ability to sit
340533	NEXMIF	HP:0000049	Shawl scrotum
340533	NEXMIF	HP:0000020	Urinary incontinence
340533	NEXMIF	HP:0008897	Postnatal growth retardation
340533	NEXMIF	HP:0001326	EEG with irregular generalized spike and wave complexes
340533	NEXMIF	HP:0001344	Absent speech
340533	NEXMIF	HP:0001337	Tremor
340533	NEXMIF	HP:0001319	Neonatal hypotonia
340533	NEXMIF	HP:0012169	Self-biting
340533	NEXMIF	HP:0012172	Stereotypical body rocking
340533	NEXMIF	HP:0012171	Stereotypical hand wringing
340533	NEXMIF	HP:0000179	Thick lower lip vermilion
340533	NEXMIF	HP:0000194	Open mouth
340533	NEXMIF	HP:0000154	Wide mouth
340533	NEXMIF	HP:0008936	Axial hypotonia
340533	NEXMIF	HP:0025401	Staring gaze
340533	NEXMIF	HP:0001423	X-linked dominant inheritance
340533	NEXMIF	HP:0002714	Downturned corners of mouth
340533	NEXMIF	HP:0002020	Gastroesophageal reflux
340533	NEXMIF	HP:0002069	Bilateral tonic-clonic seizure
340533	NEXMIF	HP:0002061	Lower limb spasticity
340533	NEXMIF	HP:0002079	Hypoplasia of the corpus callosum
340533	NEXMIF	HP:0011787	Central hypothyroidism
340533	NEXMIF	HP:0002123	Generalized myoclonic seizure
340533	NEXMIF	HP:0002120	Cerebral cortical atrophy
340533	NEXMIF	HP:0002121	Generalized non-motor (absence) seizure
340533	NEXMIF	HP:0002119	Ventriculomegaly
340533	NEXMIF	HP:0002133	Status epilepticus
340533	NEXMIF	HP:0011927	Short digit
340533	NEXMIF	HP:0010519	Increased fetal movement
340533	NEXMIF	HP:0003593	Infantile onset
340533	NEXMIF	HP:0002273	Tetraparesis
340533	NEXMIF	HP:0200134	Epileptic encephalopathy
340533	NEXMIF	HP:0100739	Bulimia
340533	NEXMIF	HP:0002292	Frontal balding
340533	NEXMIF	HP:0007018	Attention deficit hyperactivity disorder
340533	NEXMIF	HP:0011968	Feeding difficulties
340533	NEXMIF	HP:0002392	EEG with polyspike wave complexes
340533	NEXMIF	HP:0002317	Unsteady gait
340533	NEXMIF	HP:0002332	Lack of peer relationships
340533	NEXMIF	HP:0010845	EEG with generalized slow activity
340533	NEXMIF	HP:0010819	Atonic seizure
340533	NEXMIF	HP:0100678	Premature skin wrinkling
340533	NEXMIF	HP:0010804	Tented upper lip vermilion
340533	NEXMIF	HP:0002307	Drooling
340533	NEXMIF	HP:0004209	Clinodactyly of the 5th finger
340533	NEXMIF	HP:0011344	Severe global developmental delay
340533	NEXMIF	HP:0001999	Abnormal facial shape
340533	NEXMIF	HP:0003011	Abnormality of the musculature
340533	NEXMIF	HP:0000752	Hyperactivity
340533	NEXMIF	HP:0100023	Recurrent hand flapping
340533	NEXMIF	HP:0000739	Anxiety
340533	NEXMIF	HP:0000733	Abnormal repetitive mannerisms
340533	NEXMIF	HP:0000735	Impaired social interactions
340533	NEXMIF	HP:0000750	Delayed speech and language development
340533	NEXMIF	HP:0000718	Aggressive behavior
340533	NEXMIF	HP:0000729	Autistic behavior
340533	NEXMIF	HP:0003196	Short nose
340533	NEXMIF	HP:0003189	Long nose
340533	NEXMIF	HP:0000954	Single transverse palmar crease
340533	NEXMIF	HP:0000289	Broad philtrum
340533	NEXMIF	HP:0000252	Microcephaly
340533	NEXMIF	HP:0000219	Thin upper lip vermilion
340533	NEXMIF	HP:0000233	Thin vermilion border
340533	NEXMIF	HP:0001508	Failure to thrive
340533	NEXMIF	HP:0011097	Epileptic spasm
340533	NEXMIF	HP:0025650	Steroid-dependent nephrotic syndrome
340533	NEXMIF	HP:0000341	Narrow forehead
340533	NEXMIF	HP:0000343	Long philtrum
340533	NEXMIF	HP:0032792	Tonic seizure
340533	NEXMIF	HP:0000311	Round face
340533	NEXMIF	HP:0000322	Short philtrum
340533	NEXMIF	HP:0000303	Mandibular prognathia
340533	NEXMIF	HP:0011197	EEG with focal spike waves
340533	NEXMIF	HP:0011182	Interictal epileptiform activity
340533	NEXMIF	HP:0011171	Simple febrile seizure
340533	NEXMIF	HP:0011170	Generalized myoclonic-atonic seizure
340533	NEXMIF	HP:0000400	Macrotia
340533	NEXMIF	HP:0005280	Depressed nasal bridge
340533	NEXMIF	HP:0000486	Strabismus
340533	NEXMIF	HP:0012469	Infantile spasms
340533	NEXMIF	HP:0000494	Downslanted palpebral fissures
340533	NEXMIF	HP:0000463	Anteverted nares
340533	NEXMIF	HP:0000431	Wide nasal bridge
340533	NEXMIF	HP:0000430	Underdeveloped nasal alae
340533	NEXMIF	HP:0000426	Prominent nasal bridge
340533	NEXMIF	HP:0005484	Secondary microcephaly
340533	NEXMIF	HP:0011220	Prominent forehead
340533	NEXMIF	HP:0000568	Microphthalmia
340533	NEXMIF	HP:0000565	Esotropia
340665	CYP26C1	HP:0025167	Fragmented elastic fibers in the dermis
340665	CYP26C1	HP:0003764	Nevus
340665	CYP26C1	HP:0001269	Hemiparesis
340665	CYP26C1	HP:0007359	Focal-onset seizure
340665	CYP26C1	HP:0000007	Autosomal recessive inheritance
340665	CYP26C1	HP:0000175	Cleft palate
340665	CYP26C1	HP:0002170	Intracranial hemorrhage
340665	CYP26C1	HP:0100494	Abnormal mast cell morphology
340665	CYP26C1	HP:0001028	Hemangioma
340665	CYP26C1	HP:0100699	Scarring
340665	CYP26C1	HP:0011336	Bitemporal forceps marks
340665	CYP26C1	HP:0004426	Abnormal cheek morphology
340665	CYP26C1	HP:0008066	Abnormal blistering of the skin
340665	CYP26C1	HP:0000238	Hydrocephalus
340665	CYP26C1	HP:0000252	Microcephaly
340665	CYP26C1	HP:0000204	Cleft upper lip
340665	CYP26C1	HP:0000331	Short chin
340665	CYP26C1	HP:3000019	Abnormal buccal mucosa morphology
340665	CYP26C1	HP:0011124	Abnormal epidermal morphology
340719	NANOS1	HP:0008734	Decreased testicular size
340719	NANOS1	HP:0008669	Abnormal spermatogenesis
340719	NANOS1	HP:0000027	Azoospermia
340719	NANOS1	HP:0000006	Autosomal dominant inheritance
340719	NANOS1	HP:0000118	Phenotypic abnormality
340719	NANOS1	HP:0011961	Non-obstructive azoospermia
340719	NANOS1	HP:0011962	Obstructive azoospermia
340719	NANOS1	HP:0000789	Infertility
340719	NANOS1	HP:0012868	Abnormal sperm tail morphology
340719	NANOS1	HP:0012863	Abnormal male germ cell morphology
340719	NANOS1	HP:0012864	Abnormal sperm morphology
340719	NANOS1	HP:0000837	Increased circulating gonadotropin level
340719	NANOS1	HP:0012205	Globozoospermia
340990	OTOG	HP:0000007	Autosomal recessive inheritance
340990	OTOG	HP:0003577	Congenital onset
340990	OTOG	HP:0000750	Delayed speech and language development
340990	OTOG	HP:0000407	Sensorineural hearing impairment
340990	OTOG	HP:0001756	Vestibular hypofunction
341208	HEPHL1	HP:0002465	Poor speech
341208	HEPHL1	HP:0003777	Pili torti
341208	HEPHL1	HP:0009886	Trichorrhexis nodosa
341208	HEPHL1	HP:0025267	Snoring
341208	HEPHL1	HP:0001260	Dysarthria
341208	HEPHL1	HP:0001263	Global developmental delay
341208	HEPHL1	HP:0001382	Joint hypermobility
341208	HEPHL1	HP:0001357	Plagiocephaly
341208	HEPHL1	HP:0000007	Autosomal recessive inheritance
341208	HEPHL1	HP:0004691	2-3 toe syndactyly
341208	HEPHL1	HP:0004689	Short fourth metatarsal
341208	HEPHL1	HP:0011918	Clinodactyly of the 4th toe
341208	HEPHL1	HP:0004704	Short fifth metatarsal
341208	HEPHL1	HP:0100710	Impulsivity
341208	HEPHL1	HP:0002376	Developmental regression
341208	HEPHL1	HP:0032152	Keratosis pilaris
341208	HEPHL1	HP:0001954	Recurrent fever
341208	HEPHL1	HP:0000691	Microdontia
341208	HEPHL1	HP:0000718	Aggressive behavior
341208	HEPHL1	HP:0003102	Increased carrying angle
341208	HEPHL1	HP:0004428	Elfin facies
341208	HEPHL1	HP:0001596	Alopecia
341208	HEPHL1	HP:0012378	Fatigue
341208	HEPHL1	HP:0005180	Tricuspid regurgitation
341208	HEPHL1	HP:0001688	Sinus bradycardia
341208	HEPHL1	HP:0001653	Mitral regurgitation
341208	HEPHL1	HP:0005338	Sparse lateral eyebrow
341208	HEPHL1	HP:0000403	Recurrent otitis media
341208	HEPHL1	HP:0001792	Small nail
341208	HEPHL1	HP:0001808	Fragile nails
341208	HEPHL1	HP:0001864	Clinodactyly of the 5th toe
341208	HEPHL1	HP:0012514	Lower limb pain
341640	FREM2	HP:0001126	Cryptophthalmos
341640	FREM2	HP:0002475	Myelomeningocele
341640	FREM2	HP:0008572	External ear malformation
341640	FREM2	HP:0001249	Intellectual disability
341640	FREM2	HP:0006101	Finger syndactyly
341640	FREM2	HP:0008736	Hypoplasia of penis
341640	FREM2	HP:0000089	Renal hypoplasia
341640	FREM2	HP:0000068	Urethral atresia
341640	FREM2	HP:0000062	Ambiguous genitalia
341640	FREM2	HP:0000046	Small scrotum
341640	FREM2	HP:0000047	Hypospadias
341640	FREM2	HP:0001362	Calvarial skull defect
341640	FREM2	HP:0000028	Cryptorchidism
341640	FREM2	HP:0000007	Autosomal recessive inheritance
341640	FREM2	HP:0000003	Multicystic kidney dysplasia
341640	FREM2	HP:0000160	Narrow mouth
341640	FREM2	HP:0000142	Abnormal vagina morphology
341640	FREM2	HP:0000148	Vaginal atresia
341640	FREM2	HP:0002777	Tracheal stenosis
341640	FREM2	HP:0000104	Renal agenesis
341640	FREM2	HP:0002025	Anal stenosis
341640	FREM2	HP:0002023	Anal atresia
341640	FREM2	HP:0002089	Pulmonary hypoplasia
341640	FREM2	HP:0002084	Encephalocele
341640	FREM2	HP:0010477	Aplasia of the bladder
341640	FREM2	HP:0010458	Female pseudohermaphroditism
341640	FREM2	HP:0002101	Abnormal lung lobation
341640	FREM2	HP:0003422	Vertebral segmentation defect
341640	FREM2	HP:0010720	Abnormal hair pattern
341640	FREM2	HP:0009755	Ankyloblepharon
341640	FREM2	HP:0000618	Blindness
341640	FREM2	HP:0000678	Dental crowding
341640	FREM2	HP:0000689	Dental malocclusion
341640	FREM2	HP:0030680	Abnormality of cardiovascular system morphology
341640	FREM2	HP:0004397	Ectopic anus
341640	FREM2	HP:0012725	Cutaneous syndactyly
341640	FREM2	HP:0003191	Cleft ala nasi
341640	FREM2	HP:0003183	Wide pubic symphysis
341640	FREM2	HP:0000813	Bicornuate uterus
341640	FREM2	HP:0010297	Bifid tongue
341640	FREM2	HP:0003270	Abdominal distention
341640	FREM2	HP:0010306	Short thorax
341640	FREM2	HP:0000252	Microcephaly
341640	FREM2	HP:0000218	High palate
341640	FREM2	HP:0001522	Death in infancy
341640	FREM2	HP:0001537	Umbilical hernia
341640	FREM2	HP:0001539	Omphalocele
341640	FREM2	HP:0000202	Orofacial cleft
341640	FREM2	HP:0000204	Cleft upper lip
341640	FREM2	HP:0001607	Subglottic stenosis
341640	FREM2	HP:0001602	Laryngeal stenosis
341640	FREM2	HP:0000370	Abnormality of the middle ear
341640	FREM2	HP:0000368	Low-set, posteriorly rotated ears
341640	FREM2	HP:0000316	Hypertelorism
341640	FREM2	HP:0006610	Wide intermamillary distance
341640	FREM2	HP:0007925	Lacrimal duct aplasia
341640	FREM2	HP:0007993	Malformed lacrimal duct
341640	FREM2	HP:0000405	Conductive hearing impairment
341640	FREM2	HP:0005280	Depressed nasal bridge
341640	FREM2	HP:0001770	Toe syndactyly
341640	FREM2	HP:0000413	Atresia of the external auditory canal
341640	FREM2	HP:0000431	Wide nasal bridge
341640	FREM2	HP:0000430	Underdeveloped nasal alae
341640	FREM2	HP:0004112	Midline nasal groove
341640	FREM2	HP:0000528	Anophthalmia
341640	FREM2	HP:0000501	Glaucoma
341640	FREM2	HP:0000568	Microphthalmia
342035	GLDN	HP:0000007	Autosomal recessive inheritance
342035	GLDN	HP:0002089	Pulmonary hypoplasia
342035	GLDN	HP:0000278	Retrognathia
342035	GLDN	HP:0001561	Polyhydramnios
342035	GLDN	HP:0001558	Decreased fetal movement
342618	SLFN14	HP:0000006	Autosomal dominant inheritance
342618	SLFN14	HP:0000132	Menorrhagia
342618	SLFN14	HP:0000978	Bruising susceptibility
342618	SLFN14	HP:0000421	Epistaxis
342618	SLFN14	HP:0001873	Thrombocytopenia
343035	RD3	HP:0001141	Severely reduced visual acuity
343035	RD3	HP:0001250	Seizure
343035	RD3	HP:0001252	Hypotonia
343035	RD3	HP:0001249	Intellectual disability
343035	RD3	HP:0001263	Global developmental delay
343035	RD3	HP:0000007	Autosomal recessive inheritance
343035	RD3	HP:0002084	Encephalocele
343035	RD3	HP:0002269	Abnormality of neuronal migration
343035	RD3	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
343035	RD3	HP:0000639	Nystagmus
343035	RD3	HP:0004374	Hemiplegia/hemiparesis
343035	RD3	HP:0012795	Abnormal optic disc morphology
343035	RD3	HP:0008002	Abnormality of macular pigmentation
343035	RD3	HP:0007703	Abnormality of retinal pigmentation
343035	RD3	HP:0007875	Congenital blindness
343035	RD3	HP:0000365	Hearing impairment
343035	RD3	HP:0000518	Cataract
343035	RD3	HP:0000512	Abnormal electroretinogram
343035	RD3	HP:0000563	Keratoconus
343450	KCNT2	HP:0007270	Atypical absence seizure
343450	KCNT2	HP:0001250	Seizure
343450	KCNT2	HP:0001252	Hypotonia
343450	KCNT2	HP:0001263	Global developmental delay
343450	KCNT2	HP:0002521	Hypsarrhythmia
343450	KCNT2	HP:0033725	Thin corpus callosum
343450	KCNT2	HP:0000006	Autosomal dominant inheritance
343450	KCNT2	HP:0025401	Staring gaze
343450	KCNT2	HP:0002079	Hypoplasia of the corpus callosum
343450	KCNT2	HP:0002123	Generalized myoclonic seizure
343450	KCNT2	HP:0003593	Infantile onset
343450	KCNT2	HP:0200134	Epileptic encephalopathy
343450	KCNT2	HP:0002376	Developmental regression
343450	KCNT2	HP:0003623	Neonatal onset
343450	KCNT2	HP:0012736	Profound global developmental delay
343450	KCNT2	HP:0034295	Reduced cerebral white matter volume
343450	KCNT2	HP:0011097	Epileptic spasm
343450	KCNT2	HP:0032792	Tonic seizure
343637	RSPO4	HP:0000007	Autosomal recessive inheritance
343637	RSPO4	HP:0001507	Growth abnormality
343637	RSPO4	HP:0001798	Anonychia
343641	TGM6	HP:0001272	Cerebellar atrophy
343641	TGM6	HP:0001251	Ataxia
343641	TGM6	HP:0001260	Dysarthria
343641	TGM6	HP:0002505	Loss of ambulation
343641	TGM6	HP:0001347	Hyperreflexia
343641	TGM6	HP:0000006	Autosomal dominant inheritance
343641	TGM6	HP:0001310	Dysmetria
343641	TGM6	HP:0002080	Intention tremor
343641	TGM6	HP:0002066	Gait ataxia
343641	TGM6	HP:0002073	Progressive cerebellar ataxia
343641	TGM6	HP:0002070	Limb ataxia
343641	TGM6	HP:0003487	Babinski sign
343641	TGM6	HP:0003596	Middle age onset
343641	TGM6	HP:0007024	Pseudobulbar paralysis
343641	TGM6	HP:0002342	Intellectual disability, moderate
343641	TGM6	HP:0002355	Difficulty walking
343641	TGM6	HP:0003677	Slowly progressive
343641	TGM6	HP:0010831	Impaired proprioception
343641	TGM6	HP:0009830	Peripheral neuropathy
343641	TGM6	HP:0002311	Incoordination
343641	TGM6	HP:0000639	Nystagmus
343641	TGM6	HP:0000641	Dysmetric saccades
343641	TGM6	HP:0000602	Ophthalmoplegia
343641	TGM6	HP:0000473	Torticollis
343641	TGM6	HP:0000467	Neck muscle weakness
343641	TGM6	HP:0000514	Slow saccadic eye movements
344018	FIGLA	HP:0000013	Hypoplasia of the uterus
344018	FIGLA	HP:0001470	Sex-limited expression
344018	FIGLA	HP:0010464	Streak ovary
344018	FIGLA	HP:0008232	Elevated circulating follicle stimulating hormone level
344018	FIGLA	HP:0008222	Female infertility
344018	FIGLA	HP:0008209	Premature ovarian insufficiency
344018	FIGLA	HP:0011969	Elevated circulating luteinizing hormone level
344018	FIGLA	HP:0000786	Primary amenorrhea
344018	FIGLA	HP:0000869	Secondary amenorrhea
345193	LRIT3	HP:0000007	Autosomal recessive inheritance
345193	LRIT3	HP:0007663	Reduced visual acuity
345193	LRIT3	HP:0007642	Congenital stationary night blindness
345193	LRIT3	HP:0011958	Retinal perforation
345193	LRIT3	HP:0000639	Nystagmus
345193	LRIT3	HP:0030469	Abnormal dark-adapted electroretinogram
345193	LRIT3	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
345193	LRIT3	HP:0000662	Nyctalopia
345193	LRIT3	HP:0030639	Congenital stationary night blindness with abnormal fundus
345193	LRIT3	HP:0030638	Congenital stationary night blindness with normal fundus
345193	LRIT3	HP:0011463	Childhood onset
345193	LRIT3	HP:0007703	Abnormality of retinal pigmentation
345193	LRIT3	HP:0011003	High myopia
345193	LRIT3	HP:0030329	Retinal thinning
345193	LRIT3	HP:0007984	Electronegative electroretinogram
345193	LRIT3	HP:0000486	Strabismus
345193	LRIT3	HP:0031705	Compensatory head posture
345193	LRIT3	HP:0000540	Hypermetropia
345193	LRIT3	HP:0000551	Color vision defect
345193	LRIT3	HP:0000545	Myopia
345611	IRGM	HP:0002037	Inflammation of the large intestine
345643	MCIDAS	HP:0025177	Peribronchovascular interstitial thickening
345643	MCIDAS	HP:0002566	Intestinal malrotation
345643	MCIDAS	HP:0001217	Clubbing
345643	MCIDAS	HP:0032341	Reduced forced vital capacity
345643	MCIDAS	HP:0000007	Autosomal recessive inheritance
345643	MCIDAS	HP:0002643	Neonatal respiratory distress
345643	MCIDAS	HP:0000119	Abnormality of the genitourinary system
345643	MCIDAS	HP:0032543	Lithoptysis
345643	MCIDAS	HP:0031245	Productive cough
345643	MCIDAS	HP:0002011	Morphological central nervous system abnormality
345643	MCIDAS	HP:0002093	Respiratory insufficiency
345643	MCIDAS	HP:0002090	Pneumonia
345643	MCIDAS	HP:0100582	Nasal polyposis
345643	MCIDAS	HP:0002119	Ventriculomegaly
345643	MCIDAS	HP:0002110	Bronchiectasis
345643	MCIDAS	HP:0008222	Female infertility
345643	MCIDAS	HP:0002257	Chronic rhinitis
345643	MCIDAS	HP:0100750	Atelectasis
345643	MCIDAS	HP:0032016	Abnormal sputum
345643	MCIDAS	HP:0011947	Respiratory tract infection
345643	MCIDAS	HP:0010772	Anomalous pulmonary venous return
345643	MCIDAS	HP:0003623	Neonatal onset
345643	MCIDAS	HP:0030680	Abnormality of cardiovascular system morphology
345643	MCIDAS	HP:0000750	Delayed speech and language development
345643	MCIDAS	HP:0000924	Abnormality of the skeletal system
345643	MCIDAS	HP:0011539	Atrial situs ambiguous
345643	MCIDAS	HP:0011535	Abnormal atrial arrangement
345643	MCIDAS	HP:0030828	Wheezing
345643	MCIDAS	HP:0003251	Male infertility
345643	MCIDAS	HP:0011617	Pulmonary situs ambiguus
345643	MCIDAS	HP:0033036	Decreased nasal nitric oxide
345643	MCIDAS	HP:0025576	Abnormal inferior vena cava morphology
345643	MCIDAS	HP:0000238	Hydrocephalus
345643	MCIDAS	HP:0012206	Abnormal sperm motility
345643	MCIDAS	HP:0002878	Respiratory failure
345643	MCIDAS	HP:0006510	Chronic pulmonary obstruction
345643	MCIDAS	HP:0000389	Chronic otitis media
345643	MCIDAS	HP:0006536	Airway obstruction
345643	MCIDAS	HP:0001696	Situs inversus totalis
345643	MCIDAS	HP:0000365	Hearing impairment
345643	MCIDAS	HP:0001669	Transposition of the great arteries
345643	MCIDAS	HP:0031456	Ectopic pregnancy
345643	MCIDAS	HP:0001627	Abnormal heart morphology
345643	MCIDAS	HP:0005301	Persistent left superior vena cava
345643	MCIDAS	HP:0000403	Recurrent otitis media
345643	MCIDAS	HP:0000405	Conductive hearing impairment
345643	MCIDAS	HP:0001719	Double outlet right ventricle
345643	MCIDAS	HP:0011109	Chronic sinusitis
345643	MCIDAS	HP:0011108	Recurrent sinusitis
345643	MCIDAS	HP:0001746	Asplenia
345643	MCIDAS	HP:0001748	Polysplenia
345643	MCIDAS	HP:0001742	Nasal congestion
345643	MCIDAS	HP:0005425	Recurrent sinopulmonary infections
345643	MCIDAS	HP:0011274	Recurrent mycobacterial infections
345643	MCIDAS	HP:0000510	Rod-cone dystrophy
345895	RSPH4A	HP:0025177	Peribronchovascular interstitial thickening
345895	RSPH4A	HP:0002566	Intestinal malrotation
345895	RSPH4A	HP:0001217	Clubbing
345895	RSPH4A	HP:0000007	Autosomal recessive inheritance
345895	RSPH4A	HP:0002643	Neonatal respiratory distress
345895	RSPH4A	HP:0000119	Abnormality of the genitourinary system
345895	RSPH4A	HP:0032543	Lithoptysis
345895	RSPH4A	HP:0031245	Productive cough
345895	RSPH4A	HP:0002011	Morphological central nervous system abnormality
345895	RSPH4A	HP:0100582	Nasal polyposis
345895	RSPH4A	HP:0002119	Ventriculomegaly
345895	RSPH4A	HP:0002110	Bronchiectasis
345895	RSPH4A	HP:0008222	Female infertility
345895	RSPH4A	HP:0002257	Chronic rhinitis
345895	RSPH4A	HP:0003546	Exercise intolerance
345895	RSPH4A	HP:0002205	Recurrent respiratory infections
345895	RSPH4A	HP:0100750	Atelectasis
345895	RSPH4A	HP:0032016	Abnormal sputum
345895	RSPH4A	HP:0011947	Respiratory tract infection
345895	RSPH4A	HP:0010772	Anomalous pulmonary venous return
345895	RSPH4A	HP:0004322	Short stature
345895	RSPH4A	HP:0030680	Abnormality of cardiovascular system morphology
345895	RSPH4A	HP:0000750	Delayed speech and language development
345895	RSPH4A	HP:0000924	Abnormality of the skeletal system
345895	RSPH4A	HP:0004469	Chronic bronchitis
345895	RSPH4A	HP:0011539	Atrial situs ambiguous
345895	RSPH4A	HP:0011535	Abnormal atrial arrangement
345895	RSPH4A	HP:0030828	Wheezing
345895	RSPH4A	HP:0003251	Male infertility
345895	RSPH4A	HP:0011617	Pulmonary situs ambiguus
345895	RSPH4A	HP:0033036	Decreased nasal nitric oxide
345895	RSPH4A	HP:0025576	Abnormal inferior vena cava morphology
345895	RSPH4A	HP:0012265	Ciliary dyskinesia
345895	RSPH4A	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia
345895	RSPH4A	HP:0012263	Immotile cilia
345895	RSPH4A	HP:0000238	Hydrocephalus
345895	RSPH4A	HP:0012206	Abnormal sperm motility
345895	RSPH4A	HP:0012207	Reduced sperm motility
345895	RSPH4A	HP:0002878	Respiratory failure
345895	RSPH4A	HP:0000389	Chronic otitis media
345895	RSPH4A	HP:0006536	Airway obstruction
345895	RSPH4A	HP:0001696	Situs inversus totalis
345895	RSPH4A	HP:0000365	Hearing impairment
345895	RSPH4A	HP:0001669	Transposition of the great arteries
345895	RSPH4A	HP:0031456	Ectopic pregnancy
345895	RSPH4A	HP:0001627	Abnormal heart morphology
345895	RSPH4A	HP:0005301	Persistent left superior vena cava
345895	RSPH4A	HP:0000403	Recurrent otitis media
345895	RSPH4A	HP:0000405	Conductive hearing impairment
345895	RSPH4A	HP:0001719	Double outlet right ventricle
345895	RSPH4A	HP:0011109	Chronic sinusitis
345895	RSPH4A	HP:0011108	Recurrent sinusitis
345895	RSPH4A	HP:0001746	Asplenia
345895	RSPH4A	HP:0001748	Polysplenia
345895	RSPH4A	HP:0001742	Nasal congestion
345895	RSPH4A	HP:0005425	Recurrent sinopulmonary infections
345895	RSPH4A	HP:0011274	Recurrent mycobacterial infections
345895	RSPH4A	HP:0000510	Rod-cone dystrophy
346007	EYS	HP:0001133	Constriction of peripheral visual field
346007	EYS	HP:0001249	Intellectual disability
346007	EYS	HP:0008736	Hypoplasia of penis
346007	EYS	HP:0001347	Hyperreflexia
346007	EYS	HP:0000035	Abnormal testis morphology
346007	EYS	HP:0000007	Autosomal recessive inheritance
346007	EYS	HP:0000135	Hypogonadism
346007	EYS	HP:0007675	Progressive night blindness
346007	EYS	HP:0005978	Type II diabetes mellitus
346007	EYS	HP:0000639	Nystagmus
346007	EYS	HP:0000648	Optic atrophy
346007	EYS	HP:0000618	Blindness
346007	EYS	HP:0000613	Photophobia
346007	EYS	HP:0000602	Ophthalmoplegia
346007	EYS	HP:0000662	Nyctalopia
346007	EYS	HP:0000842	Hyperinsulinemia
346007	EYS	HP:0000987	Atypical scarring of skin
346007	EYS	HP:0008046	Abnormal retinal vascular morphology
346007	EYS	HP:0007703	Abnormality of retinal pigmentation
346007	EYS	HP:0007787	Posterior subcapsular cataract
346007	EYS	HP:0007737	Bone spicule pigmentation of the retina
346007	EYS	HP:0001513	Obesity
346007	EYS	HP:0007843	Attenuation of retinal blood vessels
346007	EYS	HP:0000407	Sensorineural hearing impairment
346007	EYS	HP:0000405	Conductive hearing impairment
346007	EYS	HP:0000463	Anteverted nares
346007	EYS	HP:0000431	Wide nasal bridge
346007	EYS	HP:0000518	Cataract
346007	EYS	HP:0000510	Rod-cone dystrophy
346007	EYS	HP:0000512	Abnormal electroretinogram
346007	EYS	HP:0000505	Visual impairment
346007	EYS	HP:0000501	Glaucoma
346007	EYS	HP:0000563	Keratoconus
346007	EYS	HP:0000533	Chorioretinal atrophy
346007	EYS	HP:0000550	Undetectable electroretinogram
346007	EYS	HP:0000543	Optic disc pallor
346171	ZFP57	HP:0001250	Seizure
346171	ZFP57	HP:0001252	Hypotonia
346171	ZFP57	HP:0000077	Abnormality of the kidney
346171	ZFP57	HP:0000079	Abnormality of the urinary system
346171	ZFP57	HP:0000006	Autosomal dominant inheritance
346171	ZFP57	HP:0000158	Macroglossia
346171	ZFP57	HP:0008255	Transient neonatal diabetes mellitus
346171	ZFP57	HP:0009800	Maternal diabetes
346171	ZFP57	HP:0004904	Maturity-onset diabetes of the young
346171	ZFP57	HP:0001944	Dehydration
346171	ZFP57	HP:0001953	Diabetic ketoacidosis
346171	ZFP57	HP:0003074	Hyperglycemia
346171	ZFP57	HP:0000707	Abnormality of the nervous system
346171	ZFP57	HP:0012758	Neurodevelopmental delay
346171	ZFP57	HP:0000821	Hypothyroidism
346171	ZFP57	HP:0040064	Abnormality of limbs
346171	ZFP57	HP:0040216	Hypoinsulinemia
346171	ZFP57	HP:0030057	Autoimmune antibody positivity
346171	ZFP57	HP:0001525	Severe failure to thrive
346171	ZFP57	HP:0001537	Umbilical hernia
346171	ZFP57	HP:0001508	Failure to thrive
346171	ZFP57	HP:0001518	Small for gestational age
346171	ZFP57	HP:0001511	Intrauterine growth retardation
346171	ZFP57	HP:0000365	Hearing impairment
346171	ZFP57	HP:0001627	Abnormal heart morphology
347688	TUBB8	HP:0008669	Abnormal spermatogenesis
347688	TUBB8	HP:0000007	Autosomal recessive inheritance
347688	TUBB8	HP:0000006	Autosomal dominant inheritance
347688	TUBB8	HP:0000147	Polycystic ovaries
347688	TUBB8	HP:0008222	Female infertility
347688	TUBB8	HP:0020155	Abnormal oocyte morphology
347688	TUBB8	HP:0031515	Abnormal meiosis
347688	TUBB8	HP:0031516	Oocyte arrest at metaphase I
347733	TUBB2B	HP:0025102	Dysgenesis of the basal ganglia
347733	TUBB2B	HP:0007301	Oromotor apraxia
347733	TUBB2B	HP:0025160	Abnormal temper tantrums
347733	TUBB2B	HP:0020214	Startle-induced seizure
347733	TUBB2B	HP:0001272	Cerebellar atrophy
347733	TUBB2B	HP:0001274	Agenesis of corpus callosum
347733	TUBB2B	HP:0001273	Abnormal corpus callosum morphology
347733	TUBB2B	HP:0001270	Motor delay
347733	TUBB2B	HP:0001269	Hemiparesis
347733	TUBB2B	HP:0001288	Gait disturbance
347733	TUBB2B	HP:0001250	Seizure
347733	TUBB2B	HP:0001252	Hypotonia
347733	TUBB2B	HP:0001251	Ataxia
347733	TUBB2B	HP:0001249	Intellectual disability
347733	TUBB2B	HP:0001263	Global developmental delay
347733	TUBB2B	HP:0032398	Dysgyria
347733	TUBB2B	HP:0007359	Focal-onset seizure
347733	TUBB2B	HP:0002539	Cortical dysplasia
347733	TUBB2B	HP:0001347	Hyperreflexia
347733	TUBB2B	HP:0001328	Specific learning disability
347733	TUBB2B	HP:0001339	Lissencephaly
347733	TUBB2B	HP:0001338	Partial agenesis of the corpus callosum
347733	TUBB2B	HP:0000006	Autosomal dominant inheritance
347733	TUBB2B	HP:0001302	Pachygyria
347733	TUBB2B	HP:0001320	Cerebellar vermis hypoplasia
347733	TUBB2B	HP:0001321	Cerebellar hypoplasia
347733	TUBB2B	HP:0001491	Congenital fibrosis of extraocular muscles
347733	TUBB2B	HP:0001488	Bilateral ptosis
347733	TUBB2B	HP:0008947	Infantile muscular hypotonia
347733	TUBB2B	HP:0012110	Hypoplasia of the pons
347733	TUBB2B	HP:0040327	Abnormal morphology of the olfactory bulb
347733	TUBB2B	HP:0100543	Cognitive impairment
347733	TUBB2B	HP:0002079	Hypoplasia of the corpus callosum
347733	TUBB2B	HP:0002121	Generalized non-motor (absence) seizure
347733	TUBB2B	HP:0002119	Ventriculomegaly
347733	TUBB2B	HP:0002126	Polymicrogyria
347733	TUBB2B	HP:0002197	Generalized-onset seizure
347733	TUBB2B	HP:0002273	Tetraparesis
347733	TUBB2B	HP:0002282	Gray matter heterotopia
347733	TUBB2B	HP:0010663	Abnormality of thalamus morphology
347733	TUBB2B	HP:0007018	Attention deficit hyperactivity disorder
347733	TUBB2B	HP:0010636	Schizencephaly
347733	TUBB2B	HP:0002389	Cavum septum pellucidum
347733	TUBB2B	HP:0002365	Hypoplasia of the brainstem
347733	TUBB2B	HP:0002363	Abnormal brainstem morphology
347733	TUBB2B	HP:0002339	Abnormal caudate nucleus morphology
347733	TUBB2B	HP:0002307	Drooling
347733	TUBB2B	HP:0031882	Agyria
347733	TUBB2B	HP:0012650	Perisylvian polymicrogyria
347733	TUBB2B	HP:0000657	Oculomotor apraxia
347733	TUBB2B	HP:0004322	Short stature
347733	TUBB2B	HP:0006956	Lateral ventricle dilatation
347733	TUBB2B	HP:0006927	Unilateral polymicrogyria
347733	TUBB2B	HP:0006930	Frontoparietal cortical dysplasia
347733	TUBB2B	HP:0100021	Cerebral palsy
347733	TUBB2B	HP:0100022	Abnormality of movement
347733	TUBB2B	HP:0003202	Skeletal muscle atrophy
347733	TUBB2B	HP:0000256	Macrocephaly
347733	TUBB2B	HP:0000252	Microcephaly
347733	TUBB2B	HP:0012377	Hemianopia
347733	TUBB2B	HP:0007941	Limited extraocular movements
347733	TUBB2B	HP:0000486	Strabismus
347733	TUBB2B	HP:0012469	Infantile spasms
347733	TUBB2B	HP:0000478	Abnormality of the eye
347733	TUBB2B	HP:0012502	Abnormality of the internal capsule
347733	TUBB2B	HP:0000518	Cataract
347733	TUBB2B	HP:0000504	Abnormality of vision
347733	TUBB2B	HP:0012547	Abnormal involuntary eye movements
348180	CTU2	HP:0010954	Hypoplastic right heart
348180	CTU2	HP:0001290	Generalized hypotonia
348180	CTU2	HP:0001274	Agenesis of corpus callosum
348180	CTU2	HP:0001250	Seizure
348180	CTU2	HP:0002553	Highly arched eyebrow
348180	CTU2	HP:0000062	Ambiguous genitalia
348180	CTU2	HP:0000054	Micropenis
348180	CTU2	HP:0001339	Lissencephaly
348180	CTU2	HP:0000007	Autosomal recessive inheritance
348180	CTU2	HP:0000122	Unilateral renal agenesis
348180	CTU2	HP:0002079	Hypoplasia of the corpus callosum
348180	CTU2	HP:0004736	Crossed fused renal ectopia
348180	CTU2	HP:0010557	Overlapping fingers
348180	CTU2	HP:0003577	Congenital onset
348180	CTU2	HP:0002280	Enlarged cisterna magna
348180	CTU2	HP:0010751	Dimple chin
348180	CTU2	HP:0100259	Postaxial polydactyly
348180	CTU2	HP:0100258	Preaxial polydactyly
348180	CTU2	HP:0000278	Retrognathia
348180	CTU2	HP:0000252	Microcephaly
348180	CTU2	HP:0000248	Brachycephaly
348180	CTU2	HP:0000218	High palate
348180	CTU2	HP:0001511	Intrauterine growth retardation
348180	CTU2	HP:0000369	Low-set ears
348180	CTU2	HP:0000341	Narrow forehead
348180	CTU2	HP:0000347	Micrognathia
348180	CTU2	HP:0000316	Hypertelorism
348180	CTU2	HP:0001643	Patent ductus arteriosus
348180	CTU2	HP:0001629	Ventricular septal defect
348180	CTU2	HP:0001631	Atrial septal defect
348180	CTU2	HP:0000400	Macrotia
348180	CTU2	HP:0005280	Depressed nasal bridge
348180	CTU2	HP:0001776	Bilateral talipes equinovarus
348180	CTU2	HP:0001845	Overlapping toe
348180	CTU2	HP:0000582	Upslanted palpebral fissure
348932	SLC6A18	HP:0002154	Hyperglycinemia
348932	SLC6A18	HP:0008358	Hyperprolinemia
348932	SLC6A18	HP:0003080	Hydroxyprolinuria
348932	SLC6A18	HP:0003108	Hyperglycinuria
348932	SLC6A18	HP:0003137	Prolinuria
348932	SLC6A18	HP:0003260	Hydroxyprolinemia
348938	NIPAL4	HP:0100806	Sepsis
348938	NIPAL4	HP:0100840	Aplasia/Hypoplasia of the eyebrow
348938	NIPAL4	HP:0000083	Renal insufficiency
348938	NIPAL4	HP:0007503	Generalized ichthyosis
348938	NIPAL4	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
348938	NIPAL4	HP:0000007	Autosomal recessive inheritance
348938	NIPAL4	HP:0000164	Abnormality of the dentition
348938	NIPAL4	HP:0100543	Cognitive impairment
348938	NIPAL4	HP:0003577	Congenital onset
348938	NIPAL4	HP:0002205	Recurrent respiratory infections
348938	NIPAL4	HP:0100758	Gangrene
348938	NIPAL4	HP:0001036	Parakeratosis
348938	NIPAL4	HP:0001019	Erythroderma
348938	NIPAL4	HP:0200020	Corneal erosion
348938	NIPAL4	HP:0025092	Epidermal acanthosis
348938	NIPAL4	HP:0100679	Lack of skin elasticity
348938	NIPAL4	HP:0001944	Dehydration
348938	NIPAL4	HP:0000656	Ectropion
348938	NIPAL4	HP:0004322	Short stature
348938	NIPAL4	HP:0000989	Pruritus
348938	NIPAL4	HP:0000982	Palmoplantar keratoderma
348938	NIPAL4	HP:0000958	Dry skin
348938	NIPAL4	HP:0000966	Hypohidrosis
348938	NIPAL4	HP:0000962	Hyperkeratosis
348938	NIPAL4	HP:0040162	Orthokeratosis
348938	NIPAL4	HP:0008070	Sparse hair
348938	NIPAL4	HP:0008064	Ichthyosis
348938	NIPAL4	HP:0040189	Scaling skin
348938	NIPAL4	HP:0001597	Abnormality of the nail
348938	NIPAL4	HP:0001596	Alopecia
348938	NIPAL4	HP:0000232	Everted lower lip vermilion
348938	NIPAL4	HP:0001508	Failure to thrive
348938	NIPAL4	HP:0011039	Abnormal helix morphology
348938	NIPAL4	HP:0000389	Chronic otitis media
348938	NIPAL4	HP:0000365	Hearing impairment
348938	NIPAL4	HP:0000491	Keratitis
348980	HCN1	HP:0020221	Clonic seizure
348980	HCN1	HP:0010850	EEG with spike-wave complexes
348980	HCN1	HP:0002421	Poor head control
348980	HCN1	HP:0001298	Encephalopathy
348980	HCN1	HP:0001290	Generalized hypotonia
348980	HCN1	HP:0001273	Abnormal corpus callosum morphology
348980	HCN1	HP:0001268	Mental deterioration
348980	HCN1	HP:0001250	Seizure
348980	HCN1	HP:0001252	Hypotonia
348980	HCN1	HP:0001251	Ataxia
348980	HCN1	HP:0001249	Intellectual disability
348980	HCN1	HP:0001265	Hyporeflexia
348980	HCN1	HP:0001263	Global developmental delay
348980	HCN1	HP:0001257	Spasticity
348980	HCN1	HP:0008770	Obsessive-compulsive trait
348980	HCN1	HP:0007359	Focal-onset seizure
348980	HCN1	HP:0002539	Cortical dysplasia
348980	HCN1	HP:0002521	Hypsarrhythmia
348980	HCN1	HP:0003829	Typified by incomplete penetrance
348980	HCN1	HP:0002509	Limb hypertonia
348980	HCN1	HP:0001344	Absent speech
348980	HCN1	HP:0001337	Tremor
348980	HCN1	HP:0000006	Autosomal dominant inheritance
348980	HCN1	HP:0001336	Myoclonus
348980	HCN1	HP:0001315	Reduced tendon reflexes
348980	HCN1	HP:0004684	Talipes valgus
348980	HCN1	HP:0002020	Gastroesophageal reflux
348980	HCN1	HP:0100543	Cognitive impairment
348980	HCN1	HP:0002069	Bilateral tonic-clonic seizure
348980	HCN1	HP:0002067	Bradykinesia
348980	HCN1	HP:0002063	Rigidity
348980	HCN1	HP:0002059	Cerebral atrophy
348980	HCN1	HP:0002123	Generalized myoclonic seizure
348980	HCN1	HP:0002121	Generalized non-motor (absence) seizure
348980	HCN1	HP:0002133	Status epilepticus
348980	HCN1	HP:0002197	Generalized-onset seizure
348980	HCN1	HP:0003593	Infantile onset
348980	HCN1	HP:0100710	Impulsivity
348980	HCN1	HP:0200134	Epileptic encephalopathy
348980	HCN1	HP:0007010	Poor fine motor coordination
348980	HCN1	HP:0007018	Attention deficit hyperactivity disorder
348980	HCN1	HP:0011968	Feeding difficulties
348980	HCN1	HP:0007058	Generalized cerebral atrophy/hypoplasia
348980	HCN1	HP:0002384	Focal impaired awareness seizure
348980	HCN1	HP:0002376	Developmental regression
348980	HCN1	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
348980	HCN1	HP:0002355	Difficulty walking
348980	HCN1	HP:0002317	Unsteady gait
348980	HCN1	HP:0010844	EEG with multifocal slow activity
348980	HCN1	HP:0100660	Dyskinesia
348980	HCN1	HP:0010819	Atonic seizure
348980	HCN1	HP:0100694	Tibial torsion
348980	HCN1	HP:0002311	Incoordination
348980	HCN1	HP:0000639	Nystagmus
348980	HCN1	HP:0000648	Optic atrophy
348980	HCN1	HP:0000668	Hypodontia
348980	HCN1	HP:0004322	Short stature
348980	HCN1	HP:0004305	Involuntary movements
348980	HCN1	HP:0003066	Limited knee extension
348980	HCN1	HP:0000739	Anxiety
348980	HCN1	HP:0000750	Delayed speech and language development
348980	HCN1	HP:0000717	Autism
348980	HCN1	HP:0000729	Autistic behavior
348980	HCN1	HP:0000708	Atypical behavior
348980	HCN1	HP:0011463	Childhood onset
348980	HCN1	HP:0011443	Abnormality of coordination
348980	HCN1	HP:0000252	Microcephaly
348980	HCN1	HP:0001558	Decreased fetal movement
348980	HCN1	HP:0001508	Failure to thrive
348980	HCN1	HP:0000348	High forehead
348980	HCN1	HP:0032794	Myoclonic seizure
348980	HCN1	HP:0011151	Atypical absence status epilepticus
348980	HCN1	HP:0000494	Downslanted palpebral fissures
348980	HCN1	HP:0012444	Brain atrophy
348980	HCN1	HP:0012447	Abnormal myelination
348980	HCN1	HP:0001763	Pes planus
348980	HCN1	HP:0000508	Ptosis
348980	HCN1	HP:0000504	Abnormality of vision
348980	HCN1	HP:0012547	Abnormal involuntary eye movements
348980	HCN1	HP:0000546	Retinal degeneration
352909	DNAAF3	HP:0025177	Peribronchovascular interstitial thickening
352909	DNAAF3	HP:0002566	Intestinal malrotation
352909	DNAAF3	HP:0001217	Clubbing
352909	DNAAF3	HP:0000007	Autosomal recessive inheritance
352909	DNAAF3	HP:0002643	Neonatal respiratory distress
352909	DNAAF3	HP:0000119	Abnormality of the genitourinary system
352909	DNAAF3	HP:0032543	Lithoptysis
352909	DNAAF3	HP:0031245	Productive cough
352909	DNAAF3	HP:0002011	Morphological central nervous system abnormality
352909	DNAAF3	HP:0002098	Respiratory distress
352909	DNAAF3	HP:0100582	Nasal polyposis
352909	DNAAF3	HP:0002119	Ventriculomegaly
352909	DNAAF3	HP:0002110	Bronchiectasis
352909	DNAAF3	HP:0008222	Female infertility
352909	DNAAF3	HP:0003577	Congenital onset
352909	DNAAF3	HP:0002257	Chronic rhinitis
352909	DNAAF3	HP:0002205	Recurrent respiratory infections
352909	DNAAF3	HP:0100750	Atelectasis
352909	DNAAF3	HP:0032016	Abnormal sputum
352909	DNAAF3	HP:0011947	Respiratory tract infection
352909	DNAAF3	HP:0010772	Anomalous pulmonary venous return
352909	DNAAF3	HP:0030680	Abnormality of cardiovascular system morphology
352909	DNAAF3	HP:0000750	Delayed speech and language development
352909	DNAAF3	HP:0000789	Infertility
352909	DNAAF3	HP:0000924	Abnormality of the skeletal system
352909	DNAAF3	HP:0011539	Atrial situs ambiguous
352909	DNAAF3	HP:0011535	Abnormal atrial arrangement
352909	DNAAF3	HP:0030828	Wheezing
352909	DNAAF3	HP:0003251	Male infertility
352909	DNAAF3	HP:0011617	Pulmonary situs ambiguus
352909	DNAAF3	HP:0025576	Abnormal inferior vena cava morphology
352909	DNAAF3	HP:0012259	Absent inner and outer dynein arms
352909	DNAAF3	HP:0012265	Ciliary dyskinesia
352909	DNAAF3	HP:0012263	Immotile cilia
352909	DNAAF3	HP:0000238	Hydrocephalus
352909	DNAAF3	HP:0000246	Sinusitis
352909	DNAAF3	HP:0012206	Abnormal sperm motility
352909	DNAAF3	HP:0002878	Respiratory failure
352909	DNAAF3	HP:0000389	Chronic otitis media
352909	DNAAF3	HP:0000388	Otitis media
352909	DNAAF3	HP:0006536	Airway obstruction
352909	DNAAF3	HP:0001696	Situs inversus totalis
352909	DNAAF3	HP:0000365	Hearing impairment
352909	DNAAF3	HP:0001669	Transposition of the great arteries
352909	DNAAF3	HP:0031456	Ectopic pregnancy
352909	DNAAF3	HP:0001651	Dextrocardia
352909	DNAAF3	HP:0001627	Abnormal heart morphology
352909	DNAAF3	HP:0005301	Persistent left superior vena cava
352909	DNAAF3	HP:0000403	Recurrent otitis media
352909	DNAAF3	HP:0000405	Conductive hearing impairment
352909	DNAAF3	HP:0001719	Double outlet right ventricle
352909	DNAAF3	HP:0011109	Chronic sinusitis
352909	DNAAF3	HP:0001746	Asplenia
352909	DNAAF3	HP:0001748	Polysplenia
352909	DNAAF3	HP:0001742	Nasal congestion
352909	DNAAF3	HP:0005425	Recurrent sinopulmonary infections
352909	DNAAF3	HP:0011274	Recurrent mycobacterial infections
352909	DNAAF3	HP:0000510	Rod-cone dystrophy
353116	RILPL1	HP:0002465	Poor speech
353116	RILPL1	HP:0002460	Distal muscle weakness
353116	RILPL1	HP:0003736	Autophagic vacuoles
353116	RILPL1	HP:0001284	Areflexia
353116	RILPL1	HP:0001260	Dysarthria
353116	RILPL1	HP:0003805	Rimmed vacuoles
353116	RILPL1	HP:0001337	Tremor
353116	RILPL1	HP:0000006	Autosomal dominant inheritance
353116	RILPL1	HP:0002015	Dysphagia
353116	RILPL1	HP:0003458	EMG: myopathic abnormalities
353116	RILPL1	HP:0002174	Postural tremor
353116	RILPL1	HP:0003557	Increased variability in muscle fiber diameter
353116	RILPL1	HP:0000651	Diplopia
353116	RILPL1	HP:0011462	Young adult onset
353116	RILPL1	HP:0003236	Elevated circulating creatine kinase concentration
353116	RILPL1	HP:0000218	High palate
353116	RILPL1	HP:0030319	Weakness of facial musculature
353116	RILPL1	HP:0000508	Ptosis
353116	RILPL1	HP:0012548	Fatty replacement of skeletal muscle
353116	RILPL1	HP:0000544	External ophthalmoplegia
353238	PADI6	HP:0032479	Preimplantation lethality
353238	PADI6	HP:0000007	Autosomal recessive inheritance
353238	PADI6	HP:0000789	Infertility
359948	IRF2BP2	HP:0003765	Psoriasiform dermatitis
359948	IRF2BP2	HP:0031035	Chronic infection
359948	IRF2BP2	HP:0031020	Bone marrow hypercellularity
359948	IRF2BP2	HP:0001392	Abnormality of the liver
359948	IRF2BP2	HP:0001324	Muscle weakness
359948	IRF2BP2	HP:0002665	Lymphoma
359948	IRF2BP2	HP:0000006	Autosomal dominant inheritance
359948	IRF2BP2	HP:0002633	Vasculitis
359948	IRF2BP2	HP:0002653	Bone pain
359948	IRF2BP2	HP:0025420	Diffuse alveolar hemorrhage
359948	IRF2BP2	HP:0031245	Productive cough
359948	IRF2BP2	HP:0002716	Lymphadenopathy
359948	IRF2BP2	HP:0002720	Decreased circulating IgA level
359948	IRF2BP2	HP:0002721	Immunodeficiency
359948	IRF2BP2	HP:0002023	Anal atresia
359948	IRF2BP2	HP:0002027	Abdominal pain
359948	IRF2BP2	HP:0002028	Chronic diarrhea
359948	IRF2BP2	HP:0002097	Emphysema
359948	IRF2BP2	HP:0002090	Pneumonia
359948	IRF2BP2	HP:0002091	Restrictive ventilatory defect
359948	IRF2BP2	HP:0030955	Alcoholism
359948	IRF2BP2	HP:0002039	Anorexia
359948	IRF2BP2	HP:0002110	Bronchiectasis
359948	IRF2BP2	HP:0011900	Hypofibrinogenemia
359948	IRF2BP2	HP:0002205	Recurrent respiratory infections
359948	IRF2BP2	HP:0100723	Gastrointestinal stroma tumor
359948	IRF2BP2	HP:0100758	Gangrene
359948	IRF2BP2	HP:0002321	Vertigo
359948	IRF2BP2	HP:0100608	Metrorrhagia
359948	IRF2BP2	HP:0032140	Decreased specific antibody response to vaccination
359948	IRF2BP2	HP:0005521	Disseminated intravascular coagulation
359948	IRF2BP2	HP:0001973	Autoimmune thrombocytopenia
359948	IRF2BP2	HP:0001974	Leukocytosis
359948	IRF2BP2	HP:0001945	Fever
359948	IRF2BP2	HP:0001903	Anemia
359948	IRF2BP2	HP:0004315	Decreased circulating IgG level
359948	IRF2BP2	HP:0004313	Decreased circulating antibody level
359948	IRF2BP2	HP:0000790	Hematuria
359948	IRF2BP2	HP:0010280	Stomatitis
359948	IRF2BP2	HP:0000979	Purpura
359948	IRF2BP2	HP:0000978	Bruising susceptibility
359948	IRF2BP2	HP:0000967	Petechiae
359948	IRF2BP2	HP:0002829	Arthralgia
359948	IRF2BP2	HP:0000248	Brachycephaly
359948	IRF2BP2	HP:0000212	Gingival overgrowth
359948	IRF2BP2	HP:0002875	Exertional dyspnea
359948	IRF2BP2	HP:0000225	Gingival bleeding
359948	IRF2BP2	HP:0001531	Failure to thrive in infancy
359948	IRF2BP2	HP:0031364	Ecchymosis
359948	IRF2BP2	HP:0002837	Recurrent bronchitis
359948	IRF2BP2	HP:0002850	Decreased circulating total IgM
359948	IRF2BP2	HP:0012378	Fatigue
359948	IRF2BP2	HP:0000389	Chronic otitis media
359948	IRF2BP2	HP:0000388	Otitis media
359948	IRF2BP2	HP:0002910	Elevated hepatic transaminase
359948	IRF2BP2	HP:0030140	Oral cavity bleeding
359948	IRF2BP2	HP:0005387	Combined immunodeficiency
359948	IRF2BP2	HP:0005357	Defective B cell differentiation
359948	IRF2BP2	HP:0011108	Recurrent sinusitis
359948	IRF2BP2	HP:0001744	Splenomegaly
359948	IRF2BP2	HP:0000421	Epistaxis
359948	IRF2BP2	HP:0006783	Posterior pharyngeal cleft
359948	IRF2BP2	HP:0001824	Weight loss
359948	IRF2BP2	HP:0001892	Abnormal bleeding
359948	IRF2BP2	HP:0001888	Lymphopenia
359948	IRF2BP2	HP:0030388	Decreased proportion of class-switched memory B cells
359948	IRF2BP2	HP:0001882	Leukopenia
359948	IRF2BP2	HP:0001878	Hemolytic anemia
359948	IRF2BP2	HP:0001873	Thrombocytopenia
359948	IRF2BP2	HP:0001876	Pancytopenia
359948	IRF2BP2	HP:0001875	Neutropenia
374291	NDUFS7	HP:0025116	Fetal distress
374291	NDUFS7	HP:0002490	Increased CSF lactate
374291	NDUFS7	HP:0001138	Optic neuropathy
374291	NDUFS7	HP:0007256	Abnormal pyramidal sign
374291	NDUFS7	HP:0010864	Intellectual disability, severe
374291	NDUFS7	HP:0002421	Poor head control
374291	NDUFS7	HP:0002415	Leukodystrophy
374291	NDUFS7	HP:0003737	Mitochondrial myopathy
374291	NDUFS7	HP:0001298	Encephalopathy
374291	NDUFS7	HP:0001290	Generalized hypotonia
374291	NDUFS7	HP:0001254	Lethargy
374291	NDUFS7	HP:0001250	Seizure
374291	NDUFS7	HP:0001252	Hypotonia
374291	NDUFS7	HP:0001251	Ataxia
374291	NDUFS7	HP:0001260	Dysarthria
374291	NDUFS7	HP:0001263	Global developmental delay
374291	NDUFS7	HP:0001257	Spasticity
374291	NDUFS7	HP:0001347	Hyperreflexia
374291	NDUFS7	HP:0001332	Dystonia
374291	NDUFS7	HP:0001324	Muscle weakness
374291	NDUFS7	HP:0000007	Autosomal recessive inheritance
374291	NDUFS7	HP:0008972	Decreased activity of mitochondrial respiratory chain
374291	NDUFS7	HP:0000114	Proximal tubulopathy
374291	NDUFS7	HP:0002013	Vomiting
374291	NDUFS7	HP:0002093	Respiratory insufficiency
374291	NDUFS7	HP:0002073	Progressive cerebellar ataxia
374291	NDUFS7	HP:0002071	Abnormality of extrapyramidal motor function
374291	NDUFS7	HP:0002151	Increased serum lactate
374291	NDUFS7	HP:0002104	Apnea
374291	NDUFS7	HP:0011923	Decreased activity of mitochondrial complex I
374291	NDUFS7	HP:0002240	Hepatomegaly
374291	NDUFS7	HP:0003542	Increased serum pyruvate
374291	NDUFS7	HP:0007020	Progressive spastic paraplegia
374291	NDUFS7	HP:0011968	Feeding difficulties
374291	NDUFS7	HP:0008316	Abnormal mitochondria in muscle tissue
374291	NDUFS7	HP:0002376	Developmental regression
374291	NDUFS7	HP:0003676	Progressive
374291	NDUFS7	HP:0002352	Leukoencephalopathy
374291	NDUFS7	HP:0009830	Peripheral neuropathy
374291	NDUFS7	HP:0007183	Focal T2 hyperintense basal ganglia lesion
374291	NDUFS7	HP:0000639	Nystagmus
374291	NDUFS7	HP:0000648	Optic atrophy
374291	NDUFS7	HP:0000618	Blindness
374291	NDUFS7	HP:0001943	Hypoglycemia
374291	NDUFS7	HP:0001942	Metabolic acidosis
374291	NDUFS7	HP:0001941	Acidosis
374291	NDUFS7	HP:0000602	Ophthalmoplegia
374291	NDUFS7	HP:0001903	Anemia
374291	NDUFS7	HP:0012748	Focal T2 hyperintense brainstem lesion
374291	NDUFS7	HP:0100022	Abnormality of movement
374291	NDUFS7	HP:0000712	Emotional lability
374291	NDUFS7	HP:0003128	Lactic acidosis
374291	NDUFS7	HP:0000819	Diabetes mellitus
374291	NDUFS7	HP:0000817	Reduced eye contact
374291	NDUFS7	HP:0000998	Hypertrichosis
374291	NDUFS7	HP:0007704	Paroxysmal involuntary eye movements
374291	NDUFS7	HP:0000252	Microcephaly
374291	NDUFS7	HP:0001508	Failure to thrive
374291	NDUFS7	HP:0001511	Intrauterine growth retardation
374291	NDUFS7	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
374291	NDUFS7	HP:0000365	Hearing impairment
374291	NDUFS7	HP:0001629	Ventricular septal defect
374291	NDUFS7	HP:0001639	Hypertrophic cardiomyopathy
374291	NDUFS7	HP:0000407	Sensorineural hearing impairment
374291	NDUFS7	HP:0000486	Strabismus
374291	NDUFS7	HP:0000508	Ptosis
374291	NDUFS7	HP:0000580	Pigmentary retinopathy
374291	NDUFS7	HP:0000543	Optic disc pallor
374354	NHLRC2	HP:0002445	Tetraplegia
374354	NHLRC2	HP:0001270	Motor delay
374354	NHLRC2	HP:0001250	Seizure
374354	NHLRC2	HP:0001263	Global developmental delay
374354	NHLRC2	HP:0003819	Death in childhood
374354	NHLRC2	HP:0001332	Dystonia
374354	NHLRC2	HP:0033725	Thin corpus callosum
374354	NHLRC2	HP:0000007	Autosomal recessive inheritance
374354	NHLRC2	HP:0001336	Myoclonus
374354	NHLRC2	HP:0008936	Axial hypotonia
374354	NHLRC2	HP:0002789	Tachypnea
374354	NHLRC2	HP:0001433	Hepatosplenomegaly
374354	NHLRC2	HP:0001404	Hepatocellular necrosis
374354	NHLRC2	HP:0001414	Microvesicular hepatic steatosis
374354	NHLRC2	HP:0002719	Recurrent infections
374354	NHLRC2	HP:0002014	Diarrhea
374354	NHLRC2	HP:0002093	Respiratory insufficiency
374354	NHLRC2	HP:0002079	Hypoplasia of the corpus callosum
374354	NHLRC2	HP:0002119	Ventriculomegaly
374354	NHLRC2	HP:0008282	Unconjugated hyperbilirubinemia
374354	NHLRC2	HP:0002240	Hepatomegaly
374354	NHLRC2	HP:0004870	Chronic hemolytic anemia
374354	NHLRC2	HP:0002205	Recurrent respiratory infections
374354	NHLRC2	HP:0002206	Pulmonary fibrosis
374354	NHLRC2	HP:0100750	Atelectasis
374354	NHLRC2	HP:0011968	Feeding difficulties
374354	NHLRC2	HP:0025066	Decreased mean corpuscular volume
374354	NHLRC2	HP:0003623	Neonatal onset
374354	NHLRC2	HP:0001974	Leukocytosis
374354	NHLRC2	HP:0001923	Reticulocytosis
374354	NHLRC2	HP:0004315	Decreased circulating IgG level
374354	NHLRC2	HP:0000767	Pectus excavatum
374354	NHLRC2	HP:0000737	Irritability
374354	NHLRC2	HP:0004445	Elliptocytosis
374354	NHLRC2	HP:0004447	Poikilocytosis
374354	NHLRC2	HP:0002878	Respiratory failure
374354	NHLRC2	HP:0001508	Failure to thrive
374354	NHLRC2	HP:0001640	Cardiomegaly
374354	NHLRC2	HP:0001714	Ventricular hypertrophy
374354	NHLRC2	HP:0000486	Strabismus
374354	NHLRC2	HP:0012444	Brain atrophy
374354	NHLRC2	HP:0011273	Anisocytosis
374354	NHLRC2	HP:0000505	Visual impairment
374354	NHLRC2	HP:0001878	Hemolytic anemia
374393	FAM111B	HP:0002522	Areflexia of lower limbs
374393	FAM111B	HP:0001324	Muscle weakness
374393	FAM111B	HP:0000006	Autosomal dominant inheritance
374393	FAM111B	HP:0002650	Scoliosis
374393	FAM111B	HP:0002091	Restrictive ventilatory defect
374393	FAM111B	HP:0002164	Nail dysplasia
374393	FAM111B	HP:0003577	Congenital onset
374393	FAM111B	HP:0002240	Hepatomegaly
374393	FAM111B	HP:0002206	Pulmonary fibrosis
374393	FAM111B	HP:0001055	Erysipelas
374393	FAM111B	HP:0001029	Poikiloderma
374393	FAM111B	HP:0000653	Sparse eyelashes
374393	FAM111B	HP:0000823	Delayed puberty
374393	FAM111B	HP:0003236	Elevated circulating creatine kinase concentration
374393	FAM111B	HP:0003202	Skeletal muscle atrophy
374393	FAM111B	HP:0034392	Joint contracture
374393	FAM111B	HP:0045075	Sparse eyebrow
374393	FAM111B	HP:0000966	Hypohidrosis
374393	FAM111B	HP:0001596	Alopecia
374393	FAM111B	HP:0001510	Growth delay
374393	FAM111B	HP:0000518	Cataract
374407	DNAJB13	HP:0025177	Peribronchovascular interstitial thickening
374407	DNAJB13	HP:0002566	Intestinal malrotation
374407	DNAJB13	HP:0001217	Clubbing
374407	DNAJB13	HP:0000007	Autosomal recessive inheritance
374407	DNAJB13	HP:0002643	Neonatal respiratory distress
374407	DNAJB13	HP:0000119	Abnormality of the genitourinary system
374407	DNAJB13	HP:0032543	Lithoptysis
374407	DNAJB13	HP:0031245	Productive cough
374407	DNAJB13	HP:0002011	Morphological central nervous system abnormality
374407	DNAJB13	HP:0100582	Nasal polyposis
374407	DNAJB13	HP:0033158	Reduced respiratory ciliary beating frequency
374407	DNAJB13	HP:0002119	Ventriculomegaly
374407	DNAJB13	HP:0002110	Bronchiectasis
374407	DNAJB13	HP:0008222	Female infertility
374407	DNAJB13	HP:0002257	Chronic rhinitis
374407	DNAJB13	HP:0100750	Atelectasis
374407	DNAJB13	HP:0032016	Abnormal sputum
374407	DNAJB13	HP:0011947	Respiratory tract infection
374407	DNAJB13	HP:0010772	Anomalous pulmonary venous return
374407	DNAJB13	HP:0030680	Abnormality of cardiovascular system morphology
374407	DNAJB13	HP:0000750	Delayed speech and language development
374407	DNAJB13	HP:0000924	Abnormality of the skeletal system
374407	DNAJB13	HP:0011539	Atrial situs ambiguous
374407	DNAJB13	HP:0011535	Abnormal atrial arrangement
374407	DNAJB13	HP:0030828	Wheezing
374407	DNAJB13	HP:0003251	Male infertility
374407	DNAJB13	HP:0011617	Pulmonary situs ambiguus
374407	DNAJB13	HP:0033036	Decreased nasal nitric oxide
374407	DNAJB13	HP:0025576	Abnormal inferior vena cava morphology
374407	DNAJB13	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia
374407	DNAJB13	HP:0000238	Hydrocephalus
374407	DNAJB13	HP:0012206	Abnormal sperm motility
374407	DNAJB13	HP:0012208	Immotile sperm
374407	DNAJB13	HP:0002878	Respiratory failure
374407	DNAJB13	HP:0002837	Recurrent bronchitis
374407	DNAJB13	HP:0000389	Chronic otitis media
374407	DNAJB13	HP:0006536	Airway obstruction
374407	DNAJB13	HP:0001696	Situs inversus totalis
374407	DNAJB13	HP:0000365	Hearing impairment
374407	DNAJB13	HP:0001669	Transposition of the great arteries
374407	DNAJB13	HP:0031456	Ectopic pregnancy
374407	DNAJB13	HP:0001627	Abnormal heart morphology
374407	DNAJB13	HP:0005301	Persistent left superior vena cava
374407	DNAJB13	HP:0000403	Recurrent otitis media
374407	DNAJB13	HP:0000405	Conductive hearing impairment
374407	DNAJB13	HP:0001719	Double outlet right ventricle
374407	DNAJB13	HP:0011109	Chronic sinusitis
374407	DNAJB13	HP:0011108	Recurrent sinusitis
374407	DNAJB13	HP:0001746	Asplenia
374407	DNAJB13	HP:0001748	Polysplenia
374407	DNAJB13	HP:0001742	Nasal congestion
374407	DNAJB13	HP:0005425	Recurrent sinopulmonary infections
374407	DNAJB13	HP:0011274	Recurrent mycobacterial infections
374407	DNAJB13	HP:0000510	Rod-cone dystrophy
374462	PTPRQ	HP:0001270	Motor delay
374462	PTPRQ	HP:0000007	Autosomal recessive inheritance
374462	PTPRQ	HP:0000006	Autosomal dominant inheritance
374462	PTPRQ	HP:0003593	Infantile onset
374462	PTPRQ	HP:0003621	Juvenile onset
374462	PTPRQ	HP:0011463	Childhood onset
374462	PTPRQ	HP:0000365	Hearing impairment
374462	PTPRQ	HP:0000407	Sensorineural hearing impairment
374462	PTPRQ	HP:0001751	Abnormal vestibular function
374654	KIF7	HP:0001177	Preaxial hand polydactyly
374654	KIF7	HP:0001182	Tapered finger
374654	KIF7	HP:0001156	Brachydactyly
374654	KIF7	HP:0001162	Postaxial hand polydactyly
374654	KIF7	HP:0001161	Hand polydactyly
374654	KIF7	HP:0001159	Syndactyly
374654	KIF7	HP:0002444	Hypothalamic hamartoma
374654	KIF7	HP:0003781	Excessive salivation
374654	KIF7	HP:0009942	Duplication of thumb phalanx
374654	KIF7	HP:0001199	Triphalangeal thumb
374654	KIF7	HP:0010864	Intellectual disability, severe
374654	KIF7	HP:0002419	Molar tooth sign on MRI
374654	KIF7	HP:0001290	Generalized hypotonia
374654	KIF7	HP:0001274	Agenesis of corpus callosum
374654	KIF7	HP:0001270	Motor delay
374654	KIF7	HP:0001288	Gait disturbance
374654	KIF7	HP:0001250	Seizure
374654	KIF7	HP:0001252	Hypotonia
374654	KIF7	HP:0001251	Ataxia
374654	KIF7	HP:0001249	Intellectual disability
374654	KIF7	HP:0001263	Global developmental delay
374654	KIF7	HP:0006101	Finger syndactyly
374654	KIF7	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
374654	KIF7	HP:0007360	Aplasia/Hypoplasia of the cerebellum
374654	KIF7	HP:0008689	Bilateral cryptorchidism
374654	KIF7	HP:0031092	Spindle-shaped finger
374654	KIF7	HP:0008678	Renal hypoplasia/aplasia
374654	KIF7	HP:0002553	Highly arched eyebrow
374654	KIF7	HP:0000098	Tall stature
374654	KIF7	HP:0000054	Micropenis
374654	KIF7	HP:0000047	Hypospadias
374654	KIF7	HP:0000023	Inguinal hernia
374654	KIF7	HP:0000028	Cryptorchidism
374654	KIF7	HP:0008897	Postnatal growth retardation
374654	KIF7	HP:0008872	Feeding difficulties in infancy
374654	KIF7	HP:0006145	Central Y-shaped metacarpal
374654	KIF7	HP:0002663	Delayed epiphyseal ossification
374654	KIF7	HP:0001331	Absent septum pellucidum
374654	KIF7	HP:0002656	Epiphyseal dysplasia
374654	KIF7	HP:0002654	Multiple epiphyseal dysplasia
374654	KIF7	HP:0000007	Autosomal recessive inheritance
374654	KIF7	HP:0001337	Tremor
374654	KIF7	HP:0001305	Dandy-Walker malformation
374654	KIF7	HP:0001320	Cerebellar vermis hypoplasia
374654	KIF7	HP:0000180	Lobulated tongue
374654	KIF7	HP:0000199	Tongue nodules
374654	KIF7	HP:0000194	Open mouth
374654	KIF7	HP:0000193	Bifid uvula
374654	KIF7	HP:0000190	Abnormal oral frenulum morphology
374654	KIF7	HP:0000160	Narrow mouth
374654	KIF7	HP:0000176	Submucous cleft hard palate
374654	KIF7	HP:0000175	Cleft palate
374654	KIF7	HP:0000143	Rectovaginal fistula
374654	KIF7	HP:0000154	Wide mouth
374654	KIF7	HP:0006329	Alveolar process hypoplasia
374654	KIF7	HP:0006335	Persistence of primary teeth
374654	KIF7	HP:0000104	Renal agenesis
374654	KIF7	HP:0002714	Downturned corners of mouth
374654	KIF7	HP:0002023	Anal atresia
374654	KIF7	HP:0002007	Frontal bossing
374654	KIF7	HP:0011802	Hamartoma of tongue
374654	KIF7	HP:0002086	Abnormality of the respiratory system
374654	KIF7	HP:0002079	Hypoplasia of the corpus callosum
374654	KIF7	HP:0002059	Cerebral atrophy
374654	KIF7	HP:0010442	Polydactyly
374654	KIF7	HP:0002139	Arrhinencephaly
374654	KIF7	HP:0003468	Abnormal vertebral morphology
374654	KIF7	HP:0002119	Ventriculomegaly
374654	KIF7	HP:0002104	Apnea
374654	KIF7	HP:0009611	Bifid distal phalanx of the thumb
374654	KIF7	HP:0010576	Intracranial cystic lesion
374654	KIF7	HP:0002263	Exaggerated cupid's bow
374654	KIF7	HP:0002269	Abnormality of neuronal migration
374654	KIF7	HP:0003577	Congenital onset
374654	KIF7	HP:0007036	Hypoplasia of olfactory tract
374654	KIF7	HP:0001004	Lymphedema
374654	KIF7	HP:0002323	Anencephaly
374654	KIF7	HP:0100682	Tracheal atresia
374654	KIF7	HP:0010803	Everted upper lip vermilion
374654	KIF7	HP:0010808	Protruding tongue
374654	KIF7	HP:0004209	Clinodactyly of the 5th finger
374654	KIF7	HP:0009084	Midline notch of upper alveolar ridge
374654	KIF7	HP:0010066	Duplication of phalanx of hallux
374654	KIF7	HP:0000639	Nystagmus
374654	KIF7	HP:0000648	Optic atrophy
374654	KIF7	HP:0000685	Hypoplasia of teeth
374654	KIF7	HP:0001999	Abnormal facial shape
374654	KIF7	HP:0004322	Short stature
374654	KIF7	HP:0030680	Abnormality of cardiovascular system morphology
374654	KIF7	HP:0030690	Gingival cleft
374654	KIF7	HP:0003071	Flattened epiphysis
374654	KIF7	HP:0003037	Enlarged joints
374654	KIF7	HP:0000767	Pectus excavatum
374654	KIF7	HP:0000768	Pectus carinatum
374654	KIF7	HP:0012725	Cutaneous syndactyly
374654	KIF7	HP:0011461	Fetal onset
374654	KIF7	HP:0000776	Congenital diaphragmatic hernia
374654	KIF7	HP:0004422	Biparietal narrowing
374654	KIF7	HP:0004408	Abnormality of the sense of smell
374654	KIF7	HP:0003196	Short nose
374654	KIF7	HP:0000924	Abnormality of the skeletal system
374654	KIF7	HP:0000889	Abnormal clavicle morphology
374654	KIF7	HP:0100333	Unilateral cleft lip
374654	KIF7	HP:0010291	Prominent palatine ridges
374654	KIF7	HP:0040019	Finger clinodactyly
374654	KIF7	HP:0100260	Mesoaxial polydactyly
374654	KIF7	HP:0100258	Preaxial polydactyly
374654	KIF7	HP:0000286	Epicanthus
374654	KIF7	HP:0000278	Retrognathia
374654	KIF7	HP:0000260	Wide anterior fontanel
374654	KIF7	HP:0000256	Macrocephaly
374654	KIF7	HP:0000276	Long face
374654	KIF7	HP:0000272	Malar flattening
374654	KIF7	HP:0000269	Prominent occiput
374654	KIF7	HP:0005148	Pulmonary valve defects
374654	KIF7	HP:0002829	Arthralgia
374654	KIF7	HP:0030084	Clinodactyly
374654	KIF7	HP:0000238	Hydrocephalus
374654	KIF7	HP:0000218	High palate
374654	KIF7	HP:0002876	Episodic tachypnea
374654	KIF7	HP:0000212	Gingival overgrowth
374654	KIF7	HP:0001561	Polyhydramnios
374654	KIF7	HP:0000233	Thin vermilion border
374654	KIF7	HP:0002857	Genu valgum
374654	KIF7	HP:0001537	Umbilical hernia
374654	KIF7	HP:0000207	Triangular mouth
374654	KIF7	HP:0000204	Cleft upper lip
374654	KIF7	HP:0001508	Failure to thrive
374654	KIF7	HP:0001510	Growth delay
374654	KIF7	HP:0000384	Preauricular skin tag
374654	KIF7	HP:0000377	Abnormal pinna morphology
374654	KIF7	HP:0011027	Abnormal fallopian tube morphology
374654	KIF7	HP:0007894	Hypopigmentation of the fundus
374654	KIF7	HP:0001601	Laryngomalacia
374654	KIF7	HP:0000365	Hearing impairment
374654	KIF7	HP:0000358	Posteriorly rotated ears
374654	KIF7	HP:0000369	Low-set ears
374654	KIF7	HP:0000368	Low-set, posteriorly rotated ears
374654	KIF7	HP:0001671	Abnormal cardiac septum morphology
374654	KIF7	HP:0000340	Sloping forehead
374654	KIF7	HP:0000343	Long philtrum
374654	KIF7	HP:0000337	Broad forehead
374654	KIF7	HP:0000347	Micrognathia
374654	KIF7	HP:0002983	Micromelia
374654	KIF7	HP:0000319	Smooth philtrum
374654	KIF7	HP:0000316	Hypertelorism
374654	KIF7	HP:0000322	Short philtrum
374654	KIF7	HP:0001627	Abnormal heart morphology
374654	KIF7	HP:0001622	Premature birth
374654	KIF7	HP:0001641	Abnormal pulmonary valve morphology
374654	KIF7	HP:0000308	Microretrognathia
374654	KIF7	HP:0000303	Mandibular prognathia
374654	KIF7	HP:0000407	Sensorineural hearing impairment
374654	KIF7	HP:0000405	Conductive hearing impairment
374654	KIF7	HP:0005280	Depressed nasal bridge
374654	KIF7	HP:0000486	Strabismus
374654	KIF7	HP:0012471	Thick vermilion border
374654	KIF7	HP:0000494	Downslanted palpebral fissures
374654	KIF7	HP:0000490	Deeply set eye
374654	KIF7	HP:0012444	Brain atrophy
374654	KIF7	HP:0000455	Broad nasal tip
374654	KIF7	HP:0000470	Short neck
374654	KIF7	HP:0001770	Toe syndactyly
374654	KIF7	HP:0000431	Wide nasal bridge
374654	KIF7	HP:0000426	Prominent nasal bridge
374654	KIF7	HP:0001841	Preaxial foot polydactyly
374654	KIF7	HP:0000528	Anophthalmia
374654	KIF7	HP:0001829	Foot polydactyly
374654	KIF7	HP:0001830	Postaxial foot polydactyly
374654	KIF7	HP:0000589	Coloboma
374654	KIF7	HP:0011220	Prominent forehead
374654	KIF7	HP:0000568	Microphthalmia
374654	KIF7	HP:0000565	Esotropia
374879	ZNF699	HP:0001177	Preaxial hand polydactyly
374879	ZNF699	HP:0100957	Abnormal renal medulla morphology
374879	ZNF699	HP:0001159	Syndactyly
374879	ZNF699	HP:0010943	Echogenic fetal bowel
374879	ZNF699	HP:0001195	Single umbilical artery
374879	ZNF699	HP:0001274	Agenesis of corpus callosum
374879	ZNF699	HP:0001252	Hypotonia
374879	ZNF699	HP:0001249	Intellectual disability
374879	ZNF699	HP:0001263	Global developmental delay
374879	ZNF699	HP:0000089	Renal hypoplasia
374879	ZNF699	HP:0001396	Cholestasis
374879	ZNF699	HP:0000062	Ambiguous genitalia
374879	ZNF699	HP:0000041	Chordee
374879	ZNF699	HP:0000047	Hypospadias
374879	ZNF699	HP:0001363	Craniosynostosis
374879	ZNF699	HP:0001357	Plagiocephaly
374879	ZNF699	HP:0000028	Cryptorchidism
374879	ZNF699	HP:0000010	Recurrent urinary tract infections
374879	ZNF699	HP:0000007	Autosomal recessive inheritance
374879	ZNF699	HP:0000154	Wide mouth
374879	ZNF699	HP:0025429	Abnormal cry
374879	ZNF699	HP:0002780	Bronchomalacia
374879	ZNF699	HP:0002779	Tracheomalacia
374879	ZNF699	HP:0025408	Abnormal spleen morphology
374879	ZNF699	HP:0001433	Hepatosplenomegaly
374879	ZNF699	HP:0002750	Delayed skeletal maturation
374879	ZNF699	HP:0002719	Recurrent infections
374879	ZNF699	HP:0002721	Immunodeficiency
374879	ZNF699	HP:0002021	Pyloric stenosis
374879	ZNF699	HP:0002020	Gastroesophageal reflux
374879	ZNF699	HP:0002036	Hiatus hernia
374879	ZNF699	HP:0002033	Poor suck
374879	ZNF699	HP:0002099	Asthma
374879	ZNF699	HP:0002092	Pulmonary arterial hypertension
374879	ZNF699	HP:0002090	Pneumonia
374879	ZNF699	HP:0100507	Reduced blood folate concentration
374879	ZNF699	HP:0010442	Polydactyly
374879	ZNF699	HP:0040288	Nasogastric tube feeding
374879	ZNF699	HP:0002119	Ventriculomegaly
374879	ZNF699	HP:0002162	Low posterior hairline
374879	ZNF699	HP:0002240	Hepatomegaly
374879	ZNF699	HP:0002216	Premature graying of hair
374879	ZNF699	HP:0200136	Oral-pharyngeal dysphagia
374879	ZNF699	HP:0011968	Feeding difficulties
374879	ZNF699	HP:0004810	Congenital hypoplastic anemia
374879	ZNF699	HP:0002376	Developmental regression
374879	ZNF699	HP:0001010	Hypopigmentation of the skin
374879	ZNF699	HP:0001000	Abnormality of skin pigmentation
374879	ZNF699	HP:0010808	Protruding tongue
374879	ZNF699	HP:0200053	Hemihypotrophy of lower limb
374879	ZNF699	HP:0009778	Short thumb
374879	ZNF699	HP:0005599	Hypopigmentation of hair
374879	ZNF699	HP:0012622	Chronic kidney disease
374879	ZNF699	HP:0000639	Nystagmus
374879	ZNF699	HP:0001945	Fever
374879	ZNF699	HP:0000601	Hypotelorism
374879	ZNF699	HP:0001903	Anemia
374879	ZNF699	HP:0001999	Abnormal facial shape
374879	ZNF699	HP:0000664	Synophrys
374879	ZNF699	HP:0009110	Diaphragmatic eventration
374879	ZNF699	HP:0040119	Unilateral conductive hearing impairment
374879	ZNF699	HP:0003196	Short nose
374879	ZNF699	HP:0030842	Choking episodes
374879	ZNF699	HP:0000998	Hypertrichosis
374879	ZNF699	HP:0000980	Pallor
374879	ZNF699	HP:0000960	Sacral dimple
374879	ZNF699	HP:0000938	Osteopenia
374879	ZNF699	HP:0000280	Coarse facial features
374879	ZNF699	HP:0000278	Retrognathia
374879	ZNF699	HP:0000294	Low anterior hairline
374879	ZNF699	HP:0000252	Microcephaly
374879	ZNF699	HP:0000218	High palate
374879	ZNF699	HP:0001561	Polyhydramnios
374879	ZNF699	HP:0001528	Hemihypertrophy
374879	ZNF699	HP:0002857	Genu valgum
374879	ZNF699	HP:0001508	Failure to thrive
374879	ZNF699	HP:0001518	Small for gestational age
374879	ZNF699	HP:0001511	Intrauterine growth retardation
374879	ZNF699	HP:0012384	Rhinitis
374879	ZNF699	HP:0011035	Abnormal renal cortex morphology
374879	ZNF699	HP:0005235	Jejunal atresia
374879	ZNF699	HP:0006528	Chronic lung disease
374879	ZNF699	HP:0001605	Vocal cord paralysis
374879	ZNF699	HP:0001601	Laryngomalacia
374879	ZNF699	HP:0002904	Hyperbilirubinemia
374879	ZNF699	HP:0005164	Dysplastic pulmonary valve
374879	ZNF699	HP:0000365	Hearing impairment
374879	ZNF699	HP:0000358	Posteriorly rotated ears
374879	ZNF699	HP:0000369	Low-set ears
374879	ZNF699	HP:0000343	Long philtrum
374879	ZNF699	HP:0000347	Micrognathia
374879	ZNF699	HP:0000319	Smooth philtrum
374879	ZNF699	HP:0000316	Hypertelorism
374879	ZNF699	HP:0001649	Tachycardia
374879	ZNF699	HP:0001643	Patent ductus arteriosus
374879	ZNF699	HP:0001642	Pulmonic stenosis
374879	ZNF699	HP:0000325	Triangular face
374879	ZNF699	HP:0001655	Patent foramen ovale
374879	ZNF699	HP:0001629	Ventricular septal defect
374879	ZNF699	HP:0001623	Breech presentation
374879	ZNF699	HP:0001622	Premature birth
374879	ZNF699	HP:0001631	Atrial septal defect
374879	ZNF699	HP:0005301	Persistent left superior vena cava
374879	ZNF699	HP:0000499	Abnormal eyelash morphology
374879	ZNF699	HP:0000407	Sensorineural hearing impairment
374879	ZNF699	HP:0000400	Macrotia
374879	ZNF699	HP:0012471	Thick vermilion border
374879	ZNF699	HP:0000463	Anteverted nares
374879	ZNF699	HP:0012447	Abnormal myelination
374879	ZNF699	HP:0001770	Toe syndactyly
374879	ZNF699	HP:0011100	Intestinal atresia
374879	ZNF699	HP:0000448	Prominent nose
374879	ZNF699	HP:0001762	Talipes equinovarus
374879	ZNF699	HP:0000426	Prominent nasal bridge
374879	ZNF699	HP:0000512	Abnormal electroretinogram
374879	ZNF699	HP:0000527	Long eyelashes
374879	ZNF699	HP:0000520	Proptosis
374879	ZNF699	HP:0000508	Ptosis
374879	ZNF699	HP:0012584	Bilateral renal hypoplasia
374879	ZNF699	HP:0012582	Bilateral renal dysplasia
374879	ZNF699	HP:0001891	Iron deficiency anemia
374879	ZNF699	HP:0000568	Microphthalmia
374879	ZNF699	HP:0000534	Abnormal eyebrow morphology
374879	ZNF699	HP:0001882	Leukopenia
374879	ZNF699	HP:0001876	Pancytopenia
374969	SVBP	HP:0001171	Split hand
374969	SVBP	HP:0001182	Tapered finger
374969	SVBP	HP:0001270	Motor delay
374969	SVBP	HP:0001250	Seizure
374969	SVBP	HP:0001249	Intellectual disability
374969	SVBP	HP:0001257	Spasticity
374969	SVBP	HP:0000007	Autosomal recessive inheritance
374969	SVBP	HP:0001335	Bimanual synkinesia
374969	SVBP	HP:0012168	Head-banging
374969	SVBP	HP:0008954	Intrinsic hand muscle atrophy
374969	SVBP	HP:0002079	Hypoplasia of the corpus callosum
374969	SVBP	HP:0002133	Status epilepticus
374969	SVBP	HP:0009778	Short thumb
374969	SVBP	HP:0010047	Short 5th metacarpal
374969	SVBP	HP:0011369	Mongolian blue spot
374969	SVBP	HP:0010041	Short 3rd metacarpal
374969	SVBP	HP:0010044	Short 4th metacarpal
374969	SVBP	HP:0011359	Dry hair
374969	SVBP	HP:0006989	Dysplastic corpus callosum
374969	SVBP	HP:0005643	Short 3rd toe
374969	SVBP	HP:0000750	Delayed speech and language development
374969	SVBP	HP:0000729	Autistic behavior
374969	SVBP	HP:0005768	2-4 toe cutaneous syndactyly
374969	SVBP	HP:0000821	Hypothyroidism
374969	SVBP	HP:0011623	Muscular ventricular septal defect
374969	SVBP	HP:0008093	Short 4th toe
374969	SVBP	HP:0000286	Epicanthus
374969	SVBP	HP:0000280	Coarse facial features
374969	SVBP	HP:0000294	Low anterior hairline
374969	SVBP	HP:0000252	Microcephaly
374969	SVBP	HP:0000384	Preauricular skin tag
374969	SVBP	HP:0000431	Wide nasal bridge
374969	SVBP	HP:0011220	Prominent forehead
375056	MIA3	HP:0001256	Intellectual disability, mild
375056	MIA3	HP:0000007	Autosomal recessive inheritance
375056	MIA3	HP:0002650	Scoliosis
375056	MIA3	HP:0000126	Hydronephrosis
375056	MIA3	HP:0002099	Asthma
375056	MIA3	HP:0003593	Infantile onset
375056	MIA3	HP:0003508	Proportionate short stature
375056	MIA3	HP:0100651	Type I diabetes mellitus
375056	MIA3	HP:0009803	Short phalanx of finger
375056	MIA3	HP:0004209	Clinodactyly of the 5th finger
375056	MIA3	HP:0000696	Delayed eruption of permanent teeth
375056	MIA3	HP:0000704	Periodontitis
375056	MIA3	HP:0000703	Dentinogenesis imperfecta
375056	MIA3	HP:0000926	Platyspondyly
375056	MIA3	HP:0000826	Precocious puberty
375056	MIA3	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
375056	MIA3	HP:0030866	Large knee
375056	MIA3	HP:0000989	Pruritus
375056	MIA3	HP:0000938	Osteopenia
375056	MIA3	HP:0000278	Retrognathia
375056	MIA3	HP:0001510	Growth delay
375056	MIA3	HP:0001513	Obesity
375056	MIA3	HP:0006480	Premature loss of teeth
375056	MIA3	HP:0000407	Sensorineural hearing impairment
375056	MIA3	HP:0000488	Retinopathy
375056	MIA3	HP:0000426	Prominent nasal bridge
375056	MIA3	HP:0001831	Short toe
375056	MIA3	HP:0012594	Moderate albuminuria
375298	CERKL	HP:0001133	Constriction of peripheral visual field
375298	CERKL	HP:0001249	Intellectual disability
375298	CERKL	HP:0008736	Hypoplasia of penis
375298	CERKL	HP:0001347	Hyperreflexia
375298	CERKL	HP:0000035	Abnormal testis morphology
375298	CERKL	HP:0000007	Autosomal recessive inheritance
375298	CERKL	HP:0000135	Hypogonadism
375298	CERKL	HP:0007688	Undetectable light- and dark-adapted electroretinogram
375298	CERKL	HP:0007675	Progressive night blindness
375298	CERKL	HP:0005978	Type II diabetes mellitus
375298	CERKL	HP:0000639	Nystagmus
375298	CERKL	HP:0000648	Optic atrophy
375298	CERKL	HP:0000618	Blindness
375298	CERKL	HP:0000613	Photophobia
375298	CERKL	HP:0000602	Ophthalmoplegia
375298	CERKL	HP:0000842	Hyperinsulinemia
375298	CERKL	HP:0000987	Atypical scarring of skin
375298	CERKL	HP:0008046	Abnormal retinal vascular morphology
375298	CERKL	HP:0007703	Abnormality of retinal pigmentation
375298	CERKL	HP:0001513	Obesity
375298	CERKL	HP:0007843	Attenuation of retinal blood vessels
375298	CERKL	HP:0000407	Sensorineural hearing impairment
375298	CERKL	HP:0000405	Conductive hearing impairment
375298	CERKL	HP:0000463	Anteverted nares
375298	CERKL	HP:0000431	Wide nasal bridge
375298	CERKL	HP:0000518	Cataract
375298	CERKL	HP:0000510	Rod-cone dystrophy
375298	CERKL	HP:0000512	Abnormal electroretinogram
375298	CERKL	HP:0000505	Visual impairment
375298	CERKL	HP:0000501	Glaucoma
375298	CERKL	HP:0000563	Keratoconus
375298	CERKL	HP:0000543	Optic disc pallor
375307	CATIP	HP:0033524	Abnormal sperm axoneme morphology
375307	CATIP	HP:0000007	Autosomal recessive inheritance
375307	CATIP	HP:0032559	Short sperm flagella
375307	CATIP	HP:0032560	Coiled sperm flagella
375307	CATIP	HP:0032562	Tapered sperm head
375307	CATIP	HP:0030974	Cryptozoospermia
375307	CATIP	HP:0011462	Young adult onset
375307	CATIP	HP:0000798	Oligospermia
375307	CATIP	HP:0003251	Male infertility
375307	CATIP	HP:0012207	Reduced sperm motility
375387	NRROS	HP:0001250	Seizure
375387	NRROS	HP:0001263	Global developmental delay
375387	NRROS	HP:0000007	Autosomal recessive inheritance
375387	NRROS	HP:0008936	Axial hypotonia
375387	NRROS	HP:0002079	Hypoplasia of the corpus callosum
375387	NRROS	HP:0002059	Cerebral atrophy
375387	NRROS	HP:0002188	Delayed CNS myelination
375387	NRROS	HP:0006970	Periventricular leukomalacia
375387	NRROS	HP:0012389	Appendicular hypotonia
375611	SLC26A5	HP:0000007	Autosomal recessive inheritance
375611	SLC26A5	HP:0000407	Sensorineural hearing impairment
375748	ERCC6L2	HP:0000007	Autosomal recessive inheritance
375748	ERCC6L2	HP:0001319	Neonatal hypotonia
375748	ERCC6L2	HP:0005528	Bone marrow hypocellularity
375748	ERCC6L2	HP:0001903	Anemia
375748	ERCC6L2	HP:0000252	Microcephaly
375748	ERCC6L2	HP:0001882	Leukopenia
375748	ERCC6L2	HP:0001873	Thrombocytopenia
375790	AGRN	HP:0002421	Poor head control
375790	AGRN	HP:0003722	Neck flexor weakness
375790	AGRN	HP:0003701	Proximal muscle weakness
375790	AGRN	HP:0001270	Motor delay
375790	AGRN	HP:0001283	Bulbar palsy
375790	AGRN	HP:0001284	Areflexia
375790	AGRN	HP:0001250	Seizure
375790	AGRN	HP:0001252	Hypotonia
375790	AGRN	HP:0001251	Ataxia
375790	AGRN	HP:0001249	Intellectual disability
375790	AGRN	HP:0001265	Hyporeflexia
375790	AGRN	HP:0002515	Waddling gait
375790	AGRN	HP:0003803	Type 1 muscle fiber predominance
375790	AGRN	HP:0001374	Congenital hip dislocation
375790	AGRN	HP:0001388	Joint laxity
375790	AGRN	HP:0410011	Abnormality of masticatory muscle
375790	AGRN	HP:0001324	Muscle weakness
375790	AGRN	HP:0000007	Autosomal recessive inheritance
375790	AGRN	HP:0002650	Scoliosis
375790	AGRN	HP:0001315	Reduced tendon reflexes
375790	AGRN	HP:0031108	Triceps weakness
375790	AGRN	HP:0001446	Abnormality of the musculature of the upper limbs
375790	AGRN	HP:0002792	Reduced vital capacity
375790	AGRN	HP:0025401	Staring gaze
375790	AGRN	HP:0002751	Kyphoscoliosis
375790	AGRN	HP:0002020	Gastroesophageal reflux
375790	AGRN	HP:0002033	Poor suck
375790	AGRN	HP:0004661	Frontalis muscle weakness
375790	AGRN	HP:0003325	Limb-girdle muscle weakness
375790	AGRN	HP:0002015	Dysphagia
375790	AGRN	HP:0003306	Spinal rigidity
375790	AGRN	HP:0003324	Generalized muscle weakness
375790	AGRN	HP:0005943	Respiratory arrest
375790	AGRN	HP:0002093	Respiratory insufficiency
375790	AGRN	HP:0002091	Restrictive ventilatory defect
375790	AGRN	HP:0003388	Easy fatigability
375790	AGRN	HP:0003473	Fatigable weakness
375790	AGRN	HP:0003484	Upper limb muscle weakness
375790	AGRN	HP:0003458	EMG: myopathic abnormalities
375790	AGRN	HP:0003443	Decreased size of nerve terminals
375790	AGRN	HP:0003402	Decreased miniature endplate potentials
375790	AGRN	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
375790	AGRN	HP:0002194	Delayed gross motor development
375790	AGRN	HP:0010536	Central sleep apnea
375790	AGRN	HP:0004885	Episodic respiratory distress
375790	AGRN	HP:0003547	Shoulder girdle muscle weakness
375790	AGRN	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
375790	AGRN	HP:0002205	Recurrent respiratory infections
375790	AGRN	HP:0011968	Feeding difficulties
375790	AGRN	HP:0010628	Facial palsy
375790	AGRN	HP:0002392	EEG with polyspike wave complexes
375790	AGRN	HP:0003693	Distal amyotrophy
375790	AGRN	HP:0002355	Difficulty walking
375790	AGRN	HP:0002329	Drowsiness
375790	AGRN	HP:0008443	Neuropathic spinal arthropathy
375790	AGRN	HP:0007178	Motor polyneuropathy
375790	AGRN	HP:0009077	Weakness of long finger extensor muscles
375790	AGRN	HP:0000639	Nystagmus
375790	AGRN	HP:0000651	Diplopia
375790	AGRN	HP:0000602	Ophthalmoplegia
375790	AGRN	HP:0009053	Distal lower limb muscle weakness
375790	AGRN	HP:0009046	Difficulty running
375790	AGRN	HP:0009005	Weakness of the intrinsic hand muscles
375790	AGRN	HP:0005659	Thoracic kyphoscoliosis
375790	AGRN	HP:0000768	Pectus carinatum
375790	AGRN	HP:0011469	Nasal regurgitation
375790	AGRN	HP:0011463	Childhood onset
375790	AGRN	HP:0012764	Orthopnea
375790	AGRN	HP:0000774	Narrow chest
375790	AGRN	HP:0012801	Narrow jaw
375790	AGRN	HP:0003202	Skeletal muscle atrophy
375790	AGRN	HP:0030842	Choking episodes
375790	AGRN	HP:0010307	Stridor
375790	AGRN	HP:0100285	EMG: impaired neuromuscular transmission
375790	AGRN	HP:0000961	Cyanosis
375790	AGRN	HP:0100295	Muscle fiber atrophy
375790	AGRN	HP:0000276	Long face
375790	AGRN	HP:0002804	Arthrogryposis multiplex congenita
375790	AGRN	HP:0002882	Sudden episodic apnea
375790	AGRN	HP:0002878	Respiratory failure
375790	AGRN	HP:0000218	High palate
375790	AGRN	HP:0002875	Exertional dyspnea
375790	AGRN	HP:0001561	Polyhydramnios
375790	AGRN	HP:0001558	Decreased fetal movement
375790	AGRN	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
375790	AGRN	HP:0002870	Obstructive sleep apnea
375790	AGRN	HP:0031374	Ankle weakness
375790	AGRN	HP:0030051	Tip-toe gait
375790	AGRN	HP:0030208	Anti-acetylcholine receptor antibody positivity
375790	AGRN	HP:0001618	Dysphonia
375790	AGRN	HP:0030196	Fatigable weakness of respiratory muscles
375790	AGRN	HP:0001612	Weak cry
375790	AGRN	HP:0001611	Hypernasal speech
375790	AGRN	HP:0030199	Fatigable weakness of neck muscles
375790	AGRN	HP:0000369	Low-set ears
375790	AGRN	HP:0000308	Microretrognathia
375790	AGRN	HP:0030319	Weakness of facial musculature
375790	AGRN	HP:0000407	Sensorineural hearing impairment
375790	AGRN	HP:0000496	Abnormality of eye movement
375790	AGRN	HP:0000467	Neck muscle weakness
375790	AGRN	HP:0001761	Pes cavus
375790	AGRN	HP:0000508	Ptosis
375790	AGRN	HP:0000597	Ophthalmoparesis
375790	AGRN	HP:0000565	Esotropia
375790	AGRN	HP:0012515	Hip flexor weakness
378884	NHLRC1	HP:0007270	Atypical absence seizure
378884	NHLRC1	HP:0001268	Mental deterioration
378884	NHLRC1	HP:0001289	Confusion
378884	NHLRC1	HP:0001288	Gait disturbance
378884	NHLRC1	HP:0001250	Seizure
378884	NHLRC1	HP:0001251	Ataxia
378884	NHLRC1	HP:0001260	Dysarthria
378884	NHLRC1	HP:0001257	Spasticity
378884	NHLRC1	HP:0007359	Focal-onset seizure
378884	NHLRC1	HP:0007334	Bilateral tonic-clonic seizure with focal onset
378884	NHLRC1	HP:0002540	Inability to walk
378884	NHLRC1	HP:0002521	Hypsarrhythmia
378884	NHLRC1	HP:0001399	Hepatic failure
378884	NHLRC1	HP:0025357	Erratic myoclonus
378884	NHLRC1	HP:0007537	Severe photosensitivity
378884	NHLRC1	HP:0000007	Autosomal recessive inheritance
378884	NHLRC1	HP:0001336	Myoclonus
378884	NHLRC1	HP:0001312	Giant somatosensory evoked potentials
378884	NHLRC1	HP:0002069	Bilateral tonic-clonic seizure
378884	NHLRC1	HP:0040288	Nasogastric tube feeding
378884	NHLRC1	HP:0002123	Generalized myoclonic seizure
378884	NHLRC1	HP:0002121	Generalized non-motor (absence) seizure
378884	NHLRC1	HP:0002133	Status epilepticus
378884	NHLRC1	HP:0002100	Recurrent aspiration pneumonia
378884	NHLRC1	HP:0002186	Apraxia
378884	NHLRC1	HP:0002384	Focal impaired awareness seizure
378884	NHLRC1	HP:0002367	Visual hallucinations
378884	NHLRC1	HP:0002360	Sleep disturbance
378884	NHLRC1	HP:0002344	Progressive neurologic deterioration
378884	NHLRC1	HP:0003678	Rapidly progressive
378884	NHLRC1	HP:0002315	Headache
378884	NHLRC1	HP:0010819	Atonic seizure
378884	NHLRC1	HP:0000716	Depression
378884	NHLRC1	HP:0000712	Emotional lability
378884	NHLRC1	HP:0000726	Dementia
378884	NHLRC1	HP:0000709	Psychosis
378884	NHLRC1	HP:0100318	Lafora bodies
378884	NHLRC1	HP:0000992	Cutaneous photosensitivity
378884	NHLRC1	HP:0031358	Vegetative state
378884	NHLRC1	HP:0011165	Focal sensory seizure with visual features
378884	NHLRC1	HP:0012444	Brain atrophy
378884	NHLRC1	HP:0000572	Visual loss
387119	CEP85L	HP:0025100	Abnormal hippocampus morphology
387119	CEP85L	HP:0007302	Bipolar affective disorder
387119	CEP85L	HP:0007270	Atypical absence seizure
387119	CEP85L	HP:0010864	Intellectual disability, severe
387119	CEP85L	HP:0001249	Intellectual disability
387119	CEP85L	HP:0001263	Global developmental delay
387119	CEP85L	HP:0001257	Spasticity
387119	CEP85L	HP:0008765	Auditory hallucinations
387119	CEP85L	HP:0007360	Aplasia/Hypoplasia of the cerebellum
387119	CEP85L	HP:0007334	Bilateral tonic-clonic seizure with focal onset
387119	CEP85L	HP:0033725	Thin corpus callosum
387119	CEP85L	HP:0000011	Neurogenic bladder
387119	CEP85L	HP:0000006	Autosomal dominant inheritance
387119	CEP85L	HP:0032411	Posterior predominant subcortical band heterotopia
387119	CEP85L	HP:0001302	Pachygyria
387119	CEP85L	HP:0008936	Axial hypotonia
387119	CEP85L	HP:0002015	Dysphagia
387119	CEP85L	HP:0002069	Bilateral tonic-clonic seizure
387119	CEP85L	HP:0002121	Generalized non-motor (absence) seizure
387119	CEP85L	HP:0002197	Generalized-onset seizure
387119	CEP85L	HP:0100704	Cerebral visual impairment
387119	CEP85L	HP:0002384	Focal impaired awareness seizure
387119	CEP85L	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
387119	CEP85L	HP:0002353	EEG abnormality
387119	CEP85L	HP:0010819	Atonic seizure
387119	CEP85L	HP:0031882	Agyria
387119	CEP85L	HP:0000609	Optic nerve hypoplasia
387119	CEP85L	HP:0000668	Hypodontia
387119	CEP85L	HP:0004305	Involuntary movements
387119	CEP85L	HP:0000733	Abnormal repetitive mannerisms
387119	CEP85L	HP:0000716	Depression
387119	CEP85L	HP:0000718	Aggressive behavior
387119	CEP85L	HP:0000729	Autistic behavior
387119	CEP85L	HP:0012758	Neurodevelopmental delay
387119	CEP85L	HP:0040196	Mild microcephaly
387119	CEP85L	HP:0002827	Hip dislocation
387119	CEP85L	HP:0032792	Tonic seizure
387119	CEP85L	HP:0032794	Myoclonic seizure
387119	CEP85L	HP:0000324	Facial asymmetry
387119	CEP85L	HP:0030301	Abnormality of the anterior commissure
387119	CEP85L	HP:0000486	Strabismus
387119	CEP85L	HP:0012469	Infantile spasms
387119	CEP85L	HP:0030222	Visual agnosia
387119	CEP85L	HP:0000473	Torticollis
387119	CEP85L	HP:0031589	Suicidal ideation
387700	SLC16A12	HP:0000006	Autosomal dominant inheritance
387700	SLC16A12	HP:0003076	Glycosuria
387700	SLC16A12	HP:0000482	Microcornea
387700	SLC16A12	HP:0000518	Cataract
387700	SLC16A12	HP:0000568	Microphthalmia
387733	IFITM5	HP:0001187	Hyperextensibility of the finger joints
387733	IFITM5	HP:0001382	Joint hypermobility
387733	IFITM5	HP:0000006	Autosomal dominant inheritance
387733	IFITM5	HP:0002645	Wormian bones
387733	IFITM5	HP:0002644	Abnormal pelvic girdle bone morphology
387733	IFITM5	HP:0002757	Recurrent fractures
387733	IFITM5	HP:0010485	Hyperextensibility at elbow
387733	IFITM5	HP:0003593	Infantile onset
387733	IFITM5	HP:0008422	Vertebral wedging
387733	IFITM5	HP:0004322	Short stature
387733	IFITM5	HP:0000703	Dentinogenesis imperfecta
387733	IFITM5	HP:0000926	Platyspondyly
387733	IFITM5	HP:0004586	Biconcave vertebral bodies
387733	IFITM5	HP:0000938	Osteopenia
387733	IFITM5	HP:0005084	Anterior radial head dislocation
387733	IFITM5	HP:0006394	Limited pronation/supination of forearm
387733	IFITM5	HP:0000325	Triangular face
387733	IFITM5	HP:0001763	Pes planus
387733	IFITM5	HP:0030268	Hyperplastic callus formation
387733	IFITM5	HP:0000592	Blue sclerae
387787	LIPT2	HP:0009879	Simplified gyral pattern
387787	LIPT2	HP:0001298	Encephalopathy
387787	LIPT2	HP:0001285	Spastic tetraparesis
387787	LIPT2	HP:0001250	Seizure
387787	LIPT2	HP:0001252	Hypotonia
387787	LIPT2	HP:0002500	Abnormal cerebral white matter morphology
387787	LIPT2	HP:0001332	Dystonia
387787	LIPT2	HP:0001344	Absent speech
387787	LIPT2	HP:0000007	Autosomal recessive inheritance
387787	LIPT2	HP:0008936	Axial hypotonia
387787	LIPT2	HP:0003348	Hyperalaninemia
387787	LIPT2	HP:0002093	Respiratory insufficiency
387787	LIPT2	HP:0002151	Increased serum lactate
387787	LIPT2	HP:0002120	Cerebral cortical atrophy
387787	LIPT2	HP:0002188	Delayed CNS myelination
387787	LIPT2	HP:0003542	Increased serum pyruvate
387787	LIPT2	HP:0011968	Feeding difficulties
387787	LIPT2	HP:0002353	EEG abnormality
387787	LIPT2	HP:0007109	Periventricular cysts
387787	LIPT2	HP:0003623	Neonatal onset
387787	LIPT2	HP:0006956	Lateral ventricle dilatation
387787	LIPT2	HP:0012736	Profound global developmental delay
387787	LIPT2	HP:0003128	Lactic acidosis
387787	LIPT2	HP:0000252	Microcephaly
387787	LIPT2	HP:0001522	Death in infancy
388015	RTL1	HP:0001181	Adducted thumb
388015	RTL1	HP:0008551	Microtia
388015	RTL1	HP:0001270	Motor delay
388015	RTL1	HP:0001256	Intellectual disability, mild
388015	RTL1	HP:0001250	Seizure
388015	RTL1	HP:0001252	Hypotonia
388015	RTL1	HP:0001249	Intellectual disability
388015	RTL1	HP:0001263	Global developmental delay
388015	RTL1	HP:0002557	Hypoplastic nipples
388015	RTL1	HP:0001239	Wrist flexion contracture
388015	RTL1	HP:0100864	Short femoral neck
388015	RTL1	HP:0001220	Interphalangeal joint contracture of finger
388015	RTL1	HP:0001371	Flexion contracture
388015	RTL1	HP:0001388	Joint laxity
388015	RTL1	HP:0001382	Joint hypermobility
388015	RTL1	HP:0000023	Inguinal hernia
388015	RTL1	HP:0002694	Sclerosis of skull base
388015	RTL1	HP:0001357	Plagiocephaly
388015	RTL1	HP:0000028	Cryptorchidism
388015	RTL1	HP:0008897	Postnatal growth retardation
388015	RTL1	HP:0008872	Feeding difficulties in infancy
388015	RTL1	HP:0002673	Coxa valga
388015	RTL1	HP:0001339	Lissencephaly
388015	RTL1	HP:0002650	Scoliosis
388015	RTL1	HP:0001319	Neonatal hypotonia
388015	RTL1	HP:0002645	Wormian bones
388015	RTL1	HP:0000194	Open mouth
388015	RTL1	HP:0000193	Bifid uvula
388015	RTL1	HP:0000160	Narrow mouth
388015	RTL1	HP:0000158	Macroglossia
388015	RTL1	HP:0000175	Cleft palate
388015	RTL1	HP:0007685	Peripheral retinal avascularization
388015	RTL1	HP:0008947	Infantile muscular hypotonia
388015	RTL1	HP:0006267	Large placenta
388015	RTL1	HP:0000119	Abnormality of the genitourinary system
388015	RTL1	HP:0000126	Hydronephrosis
388015	RTL1	HP:0001433	Hepatosplenomegaly
388015	RTL1	HP:0002751	Kyphoscoliosis
388015	RTL1	HP:0002714	Downturned corners of mouth
388015	RTL1	HP:0002021	Pyloric stenosis
388015	RTL1	HP:0002033	Poor suck
388015	RTL1	HP:0002002	Deep philtrum
388015	RTL1	HP:0005989	Redundant neck skin
388015	RTL1	HP:0004673	Decreased facial expression
388015	RTL1	HP:0002007	Frontal bossing
388015	RTL1	HP:0002089	Pulmonary hypoplasia
388015	RTL1	HP:0002092	Pulmonary arterial hypertension
388015	RTL1	HP:0002091	Restrictive ventilatory defect
388015	RTL1	HP:0002057	Prominent glabella
388015	RTL1	HP:0009600	Contracture of thumb
388015	RTL1	HP:0002194	Delayed gross motor development
388015	RTL1	HP:0010561	Undulate ribs
388015	RTL1	HP:0010511	Long toe
388015	RTL1	HP:0011823	Chin with horizontal crease
388015	RTL1	HP:0011824	Chin with H-shaped crease
388015	RTL1	HP:0002263	Exaggerated cupid's bow
388015	RTL1	HP:0002240	Hepatomegaly
388015	RTL1	HP:0010655	Epiphyseal stippling
388015	RTL1	HP:0007010	Poor fine motor coordination
388015	RTL1	HP:0011968	Feeding difficulties
388015	RTL1	HP:0009826	Limb undergrowth
388015	RTL1	HP:0009832	Abnormal distal phalanx morphology of finger
388015	RTL1	HP:0009836	Broad distal phalanx of finger
388015	RTL1	HP:0010804	Tented upper lip vermilion
388015	RTL1	HP:0009824	Upper limb undergrowth
388015	RTL1	HP:0200055	Small hand
388015	RTL1	HP:0002307	Drooling
388015	RTL1	HP:0004904	Maturity-onset diabetes of the young
388015	RTL1	HP:0031878	Acromicria
388015	RTL1	HP:0004299	Hernia of the abdominal wall
388015	RTL1	HP:0001956	Truncal obesity
388015	RTL1	HP:0010034	Short 1st metacarpal
388015	RTL1	HP:0011344	Severe global developmental delay
388015	RTL1	HP:0011335	Frontal hirsutism
388015	RTL1	HP:0011343	Moderate global developmental delay
388015	RTL1	HP:0001999	Abnormal facial shape
388015	RTL1	HP:0004322	Short stature
388015	RTL1	HP:0003049	Ulnar deviation of the wrist
388015	RTL1	HP:0012745	Short palpebral fissure
388015	RTL1	HP:0000767	Pectus excavatum
388015	RTL1	HP:0000735	Impaired social interactions
388015	RTL1	HP:0000750	Delayed speech and language development
388015	RTL1	HP:0000729	Autistic behavior
388015	RTL1	HP:0011471	Gastrostomy tube feeding in infancy
388015	RTL1	HP:0012785	Flexion contracture of finger
388015	RTL1	HP:0000774	Narrow chest
388015	RTL1	HP:0000773	Short ribs
388015	RTL1	HP:0003124	Hypercholesterolemia
388015	RTL1	HP:0004415	Pulmonary artery stenosis
388015	RTL1	HP:0005736	Short tibia
388015	RTL1	HP:0000919	Abnormality of the costochondral junction
388015	RTL1	HP:0000924	Abnormality of the skeletal system
388015	RTL1	HP:0003186	Inverted nipples
388015	RTL1	HP:0000907	Anterior rib cupping
388015	RTL1	HP:0004482	Relative macrocephaly
388015	RTL1	HP:0000882	Hypoplastic scapulae
388015	RTL1	HP:0000890	Long clavicles
388015	RTL1	HP:0000884	Prominent sternum
388015	RTL1	HP:0000817	Reduced eye contact
388015	RTL1	HP:0000826	Precocious puberty
388015	RTL1	HP:0040024	Clinodactyly of the 3rd finger
388015	RTL1	HP:0003241	External genital hypoplasia
388015	RTL1	HP:0010301	Spinal dysraphism
388015	RTL1	HP:0000973	Cutis laxa
388015	RTL1	HP:0000954	Single transverse palmar crease
388015	RTL1	HP:0045025	Narrow palpebral fissure
388015	RTL1	HP:0000946	Hypoplastic ilia
388015	RTL1	HP:0012284	Small proximal tibial epiphyses
388015	RTL1	HP:0000286	Epicanthus
388015	RTL1	HP:0000278	Retrognathia
388015	RTL1	HP:0000293	Full cheeks
388015	RTL1	HP:0000260	Wide anterior fontanel
388015	RTL1	HP:0030084	Clinodactyly
388015	RTL1	HP:0005054	Metaphyseal spurs
388015	RTL1	HP:0000252	Microcephaly
388015	RTL1	HP:0002884	Hepatoblastoma
388015	RTL1	HP:0001548	Overgrowth
388015	RTL1	HP:0002878	Respiratory failure
388015	RTL1	HP:0000218	High palate
388015	RTL1	HP:0001561	Polyhydramnios
388015	RTL1	HP:0001540	Diastasis recti
388015	RTL1	HP:0001537	Umbilical hernia
388015	RTL1	HP:0001539	Omphalocele
388015	RTL1	HP:0001538	Protuberant abdomen
388015	RTL1	HP:0002866	Hypoplastic iliac wing
388015	RTL1	HP:0001520	Large for gestational age
388015	RTL1	HP:0001518	Small for gestational age
388015	RTL1	HP:0001511	Intrauterine growth retardation
388015	RTL1	HP:0001510	Growth delay
388015	RTL1	HP:0001513	Obesity
388015	RTL1	HP:0012385	Camptodactyly
388015	RTL1	HP:0005257	Thoracic hypoplasia
388015	RTL1	HP:0006591	Absent glenoid fossa
388015	RTL1	HP:0005268	Miscarriage
388015	RTL1	HP:0002937	Hemivertebrae
388015	RTL1	HP:0001601	Laryngomalacia
388015	RTL1	HP:0001615	Hoarse cry
388015	RTL1	HP:0000358	Posteriorly rotated ears
388015	RTL1	HP:0000368	Low-set, posteriorly rotated ears
388015	RTL1	HP:0000341	Narrow forehead
388015	RTL1	HP:0000343	Long philtrum
388015	RTL1	HP:0000337	Broad forehead
388015	RTL1	HP:0000347	Micrognathia
388015	RTL1	HP:0002982	Tibial bowing
388015	RTL1	HP:0012303	Abnormal aortic arch morphology
388015	RTL1	HP:0000327	Hypoplasia of the maxilla
388015	RTL1	HP:0000322	Short philtrum
388015	RTL1	HP:0001629	Ventricular septal defect
388015	RTL1	HP:0001627	Abnormal heart morphology
388015	RTL1	HP:0001622	Premature birth
388015	RTL1	HP:0001639	Hypertrophic cardiomyopathy
388015	RTL1	HP:0001631	Atrial septal defect
388015	RTL1	HP:0000303	Mandibular prognathia
388015	RTL1	HP:0006610	Wide intermamillary distance
388015	RTL1	HP:0006665	Coat hanger sign of ribs
388015	RTL1	HP:0000403	Recurrent otitis media
388015	RTL1	HP:0005280	Depressed nasal bridge
388015	RTL1	HP:0012471	Thick vermilion border
388015	RTL1	HP:0000490	Deeply set eye
388015	RTL1	HP:0001792	Small nail
388015	RTL1	HP:0000463	Anteverted nares
388015	RTL1	HP:0000470	Short neck
388015	RTL1	HP:0001773	Short foot
388015	RTL1	HP:0012428	Prominent calcaneus
388015	RTL1	HP:0000445	Wide nose
388015	RTL1	HP:0000431	Wide nasal bridge
388015	RTL1	HP:0001845	Overlapping toe
388015	RTL1	HP:0001840	Metatarsus adductus
388015	RTL1	HP:0000581	Blepharophimosis
388015	RTL1	HP:0011220	Prominent forehead
388015	RTL1	HP:0000565	Esotropia
388389	CCDC103	HP:0025177	Peribronchovascular interstitial thickening
388389	CCDC103	HP:0002566	Intestinal malrotation
388389	CCDC103	HP:0001217	Clubbing
388389	CCDC103	HP:0000007	Autosomal recessive inheritance
388389	CCDC103	HP:0002643	Neonatal respiratory distress
388389	CCDC103	HP:0000119	Abnormality of the genitourinary system
388389	CCDC103	HP:0032543	Lithoptysis
388389	CCDC103	HP:0031245	Productive cough
388389	CCDC103	HP:0002011	Morphological central nervous system abnormality
388389	CCDC103	HP:0100582	Nasal polyposis
388389	CCDC103	HP:0002119	Ventriculomegaly
388389	CCDC103	HP:0002110	Bronchiectasis
388389	CCDC103	HP:0008222	Female infertility
388389	CCDC103	HP:0003577	Congenital onset
388389	CCDC103	HP:0002257	Chronic rhinitis
388389	CCDC103	HP:0002205	Recurrent respiratory infections
388389	CCDC103	HP:0100750	Atelectasis
388389	CCDC103	HP:0032016	Abnormal sputum
388389	CCDC103	HP:0011947	Respiratory tract infection
388389	CCDC103	HP:0010772	Anomalous pulmonary venous return
388389	CCDC103	HP:0030680	Abnormality of cardiovascular system morphology
388389	CCDC103	HP:0012735	Cough
388389	CCDC103	HP:0000750	Delayed speech and language development
388389	CCDC103	HP:0000924	Abnormality of the skeletal system
388389	CCDC103	HP:0011539	Atrial situs ambiguous
388389	CCDC103	HP:0011535	Abnormal atrial arrangement
388389	CCDC103	HP:0030828	Wheezing
388389	CCDC103	HP:0003251	Male infertility
388389	CCDC103	HP:0011617	Pulmonary situs ambiguus
388389	CCDC103	HP:0025576	Abnormal inferior vena cava morphology
388389	CCDC103	HP:0012265	Ciliary dyskinesia
388389	CCDC103	HP:0012255	Dynein arm defect of respiratory motile cilia
388389	CCDC103	HP:0000238	Hydrocephalus
388389	CCDC103	HP:0012206	Abnormal sperm motility
388389	CCDC103	HP:0002878	Respiratory failure
388389	CCDC103	HP:0000389	Chronic otitis media
388389	CCDC103	HP:0006536	Airway obstruction
388389	CCDC103	HP:0001696	Situs inversus totalis
388389	CCDC103	HP:0000365	Hearing impairment
388389	CCDC103	HP:0001669	Transposition of the great arteries
388389	CCDC103	HP:0031456	Ectopic pregnancy
388389	CCDC103	HP:0001651	Dextrocardia
388389	CCDC103	HP:0001627	Abnormal heart morphology
388389	CCDC103	HP:0005301	Persistent left superior vena cava
388389	CCDC103	HP:0000403	Recurrent otitis media
388389	CCDC103	HP:0000405	Conductive hearing impairment
388389	CCDC103	HP:0001719	Double outlet right ventricle
388389	CCDC103	HP:0011109	Chronic sinusitis
388389	CCDC103	HP:0001746	Asplenia
388389	CCDC103	HP:0001748	Polysplenia
388389	CCDC103	HP:0001742	Nasal congestion
388389	CCDC103	HP:0005425	Recurrent sinopulmonary infections
388389	CCDC103	HP:0011274	Recurrent mycobacterial infections
388389	CCDC103	HP:0000510	Rod-cone dystrophy
388531	RGS9BP	HP:0000007	Autosomal recessive inheritance
388531	RGS9BP	HP:0001098	Abnormal fundus morphology
388531	RGS9BP	HP:0030511	Bradyopsia
388531	RGS9BP	HP:0000613	Photophobia
388531	RGS9BP	HP:0000505	Visual impairment
388531	RGS9BP	HP:0000551	Color vision defect
388551	CEACAM16	HP:0000007	Autosomal recessive inheritance
388551	CEACAM16	HP:0000006	Autosomal dominant inheritance
388551	CEACAM16	HP:0003621	Juvenile onset
388551	CEACAM16	HP:0000407	Sensorineural hearing impairment
388551	CEACAM16	HP:0001751	Abnormal vestibular function
388551	CEACAM16	HP:0000505	Visual impairment
388552	BLOC1S3	HP:0001107	Ocular albinism
388552	BLOC1S3	HP:0012043	Pendular nystagmus
388552	BLOC1S3	HP:0007513	Generalized hypopigmentation
388552	BLOC1S3	HP:0000007	Autosomal recessive inheritance
388552	BLOC1S3	HP:0007663	Reduced visual acuity
388552	BLOC1S3	HP:0500041	Myopic astigmatism
388552	BLOC1S3	HP:0000132	Menorrhagia
388552	BLOC1S3	HP:0003577	Congenital onset
388552	BLOC1S3	HP:0002218	Silver-gray hair
388552	BLOC1S3	HP:0003540	Impaired platelet aggregation
388552	BLOC1S3	HP:0001022	Albinism
388552	BLOC1S3	HP:0008499	High hypermetropia
388552	BLOC1S3	HP:0000639	Nystagmus
388552	BLOC1S3	HP:0000635	Blue irides
388552	BLOC1S3	HP:0000666	Horizontal nystagmus
388552	BLOC1S3	HP:0012805	Iris transillumination defect
388552	BLOC1S3	HP:0000978	Bruising susceptibility
388552	BLOC1S3	HP:0007750	Hypoplasia of the fovea
388552	BLOC1S3	HP:0000225	Gingival bleeding
388552	BLOC1S3	HP:0011003	High myopia
388552	BLOC1S3	HP:0030139	Excessive bleeding after a venipuncture
388552	BLOC1S3	HP:0030138	Excessive bleeding from superficial cuts
388552	BLOC1S3	HP:0000483	Astigmatism
388552	BLOC1S3	HP:0000421	Epistaxis
388552	BLOC1S3	HP:0031729	Moderate hypermetropia
388552	BLOC1S3	HP:0000577	Exotropia
388552	BLOC1S3	HP:0000565	Esotropia
388552	BLOC1S3	HP:0000540	Hypermetropia
388552	BLOC1S3	HP:0000543	Optic disc pallor
388552	BLOC1S3	HP:0000545	Myopia
388662	SLC6A17	HP:0002465	Poor speech
388662	SLC6A17	HP:0010864	Intellectual disability, severe
388662	SLC6A17	HP:0001263	Global developmental delay
388662	SLC6A17	HP:0002540	Inability to walk
388662	SLC6A17	HP:0002515	Waddling gait
388662	SLC6A17	HP:0000073	Ureteral duplication
388662	SLC6A17	HP:0001344	Absent speech
388662	SLC6A17	HP:0000007	Autosomal recessive inheritance
388662	SLC6A17	HP:0001337	Tremor
388662	SLC6A17	HP:0012114	Endometrial carcinoma
388662	SLC6A17	HP:0002705	High, narrow palate
388662	SLC6A17	HP:0003593	Infantile onset
388662	SLC6A17	HP:0002378	Hand tremor
388662	SLC6A17	HP:0200055	Small hand
388662	SLC6A17	HP:0005580	Duplication of renal pelvis
388662	SLC6A17	HP:0003002	Breast carcinoma
388662	SLC6A17	HP:0000748	Inappropriate laughter
388662	SLC6A17	HP:0000742	Self-mutilation
388662	SLC6A17	HP:0000718	Aggressive behavior
388662	SLC6A17	HP:0000712	Emotional lability
388662	SLC6A17	HP:0000821	Hypothyroidism
388662	SLC6A17	HP:0045025	Narrow palpebral fissure
388662	SLC6A17	HP:0002861	Melanoma
388662	SLC6A17	HP:0000343	Long philtrum
388662	SLC6A17	HP:0000303	Mandibular prognathia
388662	SLC6A17	HP:0000400	Macrotia
388662	SLC6A17	HP:0000574	Thick eyebrow
388698	FLG2	HP:0000007	Autosomal recessive inheritance
388698	FLG2	HP:0003577	Congenital onset
388698	FLG2	HP:0001036	Parakeratosis
388698	FLG2	HP:0001047	Atopic dermatitis
388698	FLG2	HP:0000989	Pruritus
388698	FLG2	HP:0000958	Dry skin
388698	FLG2	HP:0040162	Orthokeratosis
388698	FLG2	HP:0040189	Scaling skin
388753	COA6	HP:0001252	Hypotonia
388753	COA6	HP:0000007	Autosomal recessive inheritance
388753	COA6	HP:0001319	Neonatal hypotonia
388753	COA6	HP:0002789	Tachypnea
388753	COA6	HP:0002045	Hypothermia
388753	COA6	HP:0003577	Congenital onset
388753	COA6	HP:0008347	Decreased activity of mitochondrial complex IV
388753	COA6	HP:0001942	Metabolic acidosis
388753	COA6	HP:0012664	Reduced left ventricular ejection fraction
388753	COA6	HP:0030682	Left ventricular noncompaction
388753	COA6	HP:0003128	Lactic acidosis
388753	COA6	HP:0005180	Tricuspid regurgitation
388753	COA6	HP:0001643	Patent ductus arteriosus
388753	COA6	HP:0000331	Short chin
388753	COA6	HP:0001659	Aortic regurgitation
388753	COA6	HP:0001639	Hypertrophic cardiomyopathy
388939	PCARE	HP:0001249	Intellectual disability
388939	PCARE	HP:0008736	Hypoplasia of penis
388939	PCARE	HP:0001347	Hyperreflexia
388939	PCARE	HP:0000035	Abnormal testis morphology
388939	PCARE	HP:0000007	Autosomal recessive inheritance
388939	PCARE	HP:0000135	Hypogonadism
388939	PCARE	HP:0007675	Progressive night blindness
388939	PCARE	HP:0005978	Type II diabetes mellitus
388939	PCARE	HP:0001099	Fundus atrophy
388939	PCARE	HP:0000639	Nystagmus
388939	PCARE	HP:0000648	Optic atrophy
388939	PCARE	HP:0000618	Blindness
388939	PCARE	HP:0000613	Photophobia
388939	PCARE	HP:0000602	Ophthalmoplegia
388939	PCARE	HP:0000662	Nyctalopia
388939	PCARE	HP:0000842	Hyperinsulinemia
388939	PCARE	HP:0000987	Atypical scarring of skin
388939	PCARE	HP:0008046	Abnormal retinal vascular morphology
388939	PCARE	HP:0007703	Abnormality of retinal pigmentation
388939	PCARE	HP:0007737	Bone spicule pigmentation of the retina
388939	PCARE	HP:0001513	Obesity
388939	PCARE	HP:0007843	Attenuation of retinal blood vessels
388939	PCARE	HP:0000407	Sensorineural hearing impairment
388939	PCARE	HP:0000405	Conductive hearing impairment
388939	PCARE	HP:0000463	Anteverted nares
388939	PCARE	HP:0000431	Wide nasal bridge
388939	PCARE	HP:0000518	Cataract
388939	PCARE	HP:0000510	Rod-cone dystrophy
388939	PCARE	HP:0000512	Abnormal electroretinogram
388939	PCARE	HP:0000505	Visual impairment
388939	PCARE	HP:0000501	Glaucoma
388939	PCARE	HP:0000563	Keratoconus
388962	BOLA3	HP:0002421	Poor head control
388962	BOLA3	HP:0002415	Leukodystrophy
388962	BOLA3	HP:0001290	Generalized hypotonia
388962	BOLA3	HP:0001254	Lethargy
388962	BOLA3	HP:0001250	Seizure
388962	BOLA3	HP:0001251	Ataxia
388962	BOLA3	HP:0001263	Global developmental delay
388962	BOLA3	HP:0001257	Spasticity
388962	BOLA3	HP:0500230	Increased CSF glycine concentration
388962	BOLA3	HP:0001324	Muscle weakness
388962	BOLA3	HP:0000007	Autosomal recessive inheritance
388962	BOLA3	HP:0001336	Myoclonus
388962	BOLA3	HP:0008972	Decreased activity of mitochondrial respiratory chain
388962	BOLA3	HP:0002789	Tachypnea
388962	BOLA3	HP:0002013	Vomiting
388962	BOLA3	HP:0002098	Respiratory distress
388962	BOLA3	HP:0002093	Respiratory insufficiency
388962	BOLA3	HP:0002071	Abnormality of extrapyramidal motor function
388962	BOLA3	HP:0002154	Hyperglycinemia
388962	BOLA3	HP:0011924	Decreased activity of mitochondrial complex III
388962	BOLA3	HP:0011923	Decreased activity of mitochondrial complex I
388962	BOLA3	HP:0003593	Infantile onset
388962	BOLA3	HP:0002240	Hepatomegaly
388962	BOLA3	HP:0200134	Epileptic encephalopathy
388962	BOLA3	HP:0008314	Decreased activity of mitochondrial complex II
388962	BOLA3	HP:0002376	Developmental regression
388962	BOLA3	HP:0000648	Optic atrophy
388962	BOLA3	HP:0003128	Lactic acidosis
388962	BOLA3	HP:0000975	Hyperhidrosis
388962	BOLA3	HP:0002878	Respiratory failure
388962	BOLA3	HP:0001522	Death in infancy
388962	BOLA3	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
388962	BOLA3	HP:0001644	Dilated cardiomyopathy
388962	BOLA3	HP:0001639	Hypertrophic cardiomyopathy
388962	BOLA3	HP:0000505	Visual impairment
389207	GRXCR1	HP:0000007	Autosomal recessive inheritance
389207	GRXCR1	HP:0000365	Hearing impairment
389207	GRXCR1	HP:0000408	Progressive sensorineural hearing impairment
389207	GRXCR1	HP:0001751	Abnormal vestibular function
389421	LIN28B	HP:0011976	Elevated urinary catecholamines
389421	LIN28B	HP:0004375	Neoplasm of the nervous system
389434	IYD	HP:0001254	Lethargy
389434	IYD	HP:0001252	Hypotonia
389434	IYD	HP:0001249	Intellectual disability
389434	IYD	HP:0001265	Hyporeflexia
389434	IYD	HP:0008872	Feeding difficulties in infancy
389434	IYD	HP:0008828	Delayed proximal femoral epiphyseal ossification
389434	IYD	HP:0000007	Autosomal recessive inheritance
389434	IYD	HP:0025483	Abnormal circulating thyroglobulin level
389434	IYD	HP:0025482	Positive perchlorate discharge test
389434	IYD	HP:0000158	Macroglossia
389434	IYD	HP:0031219	Reduced radioactive iodine uptake
389434	IYD	HP:0031220	Increased radioactive iodine uptake
389434	IYD	HP:0002019	Constipation
389434	IYD	HP:0002045	Hypothermia
389434	IYD	HP:0005930	Abnormal epiphysis morphology
389434	IYD	HP:0008263	Thyroid defect in oxidation and organification of iodide
389434	IYD	HP:0011437	Maternal autoimmune disease
389434	IYD	HP:0012758	Neurodevelopmental delay
389434	IYD	HP:0004491	Large posterior fontanelle
389434	IYD	HP:0000851	Congenital hypothyroidism
389434	IYD	HP:0000853	Goiter
389434	IYD	HP:0000821	Hypothyroidism
389434	IYD	HP:0003265	Neonatal hyperbilirubinemia
389434	IYD	HP:0000282	Facial edema
389434	IYD	HP:0000270	Delayed cranial suture closure
389434	IYD	HP:0001537	Umbilical hernia
389434	IYD	HP:0001510	Growth delay
389434	IYD	HP:0031507	Decreased circulating T4 concentration
389434	IYD	HP:0006579	Prolonged neonatal jaundice
389434	IYD	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
389434	IYD	HP:0001662	Bradycardia
389434	IYD	HP:0000407	Sensorineural hearing impairment
389434	IYD	HP:0005280	Depressed nasal bridge
389549	FEZF1	HP:0001288	Gait disturbance
389549	FEZF1	HP:0001250	Seizure
389549	FEZF1	HP:0001252	Hypotonia
389549	FEZF1	HP:0001251	Ataxia
389549	FEZF1	HP:0001260	Dysarthria
389549	FEZF1	HP:0008734	Decreased testicular size
389549	FEZF1	HP:0008736	Hypoplasia of penis
389549	FEZF1	HP:0000044	Hypogonadotropic hypogonadism
389549	FEZF1	HP:0000054	Micropenis
389549	FEZF1	HP:0000028	Cryptorchidism
389549	FEZF1	HP:0001324	Muscle weakness
389549	FEZF1	HP:0000008	Abnormal morphology of female internal genitalia
389549	FEZF1	HP:0000007	Autosomal recessive inheritance
389549	FEZF1	HP:0001335	Bimanual synkinesia
389549	FEZF1	HP:0001337	Tremor
389549	FEZF1	HP:0002652	Skeletal dysplasia
389549	FEZF1	HP:0000175	Cleft palate
389549	FEZF1	HP:0000144	Decreased fertility
389549	FEZF1	HP:0000135	Hypogonadism
389549	FEZF1	HP:0002757	Recurrent fractures
389549	FEZF1	HP:0000104	Renal agenesis
389549	FEZF1	HP:0002750	Delayed skeletal maturation
389549	FEZF1	HP:0010550	Paraplegia
389549	FEZF1	HP:0008214	Decreased serum estradiol
389549	FEZF1	HP:0002215	Sparse axillary hair
389549	FEZF1	HP:0002225	Sparse pubic hair
389549	FEZF1	HP:0009804	Tooth agenesis
389549	FEZF1	HP:0100639	Erectile dysfunction
389549	FEZF1	HP:0003621	Juvenile onset
389549	FEZF1	HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test
389549	FEZF1	HP:0000639	Nystagmus
389549	FEZF1	HP:0030680	Abnormality of cardiovascular system morphology
389549	FEZF1	HP:0004349	Reduced bone mineral density
389549	FEZF1	HP:0000771	Gynecomastia
389549	FEZF1	HP:0011463	Childhood onset
389549	FEZF1	HP:0000789	Infertility
389549	FEZF1	HP:0000786	Primary amenorrhea
389549	FEZF1	HP:0004409	Hyposmia
389549	FEZF1	HP:0004408	Abnormality of the sense of smell
389549	FEZF1	HP:0003187	Breast hypoplasia
389549	FEZF1	HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency
389549	FEZF1	HP:0000830	Anterior hypopituitarism
389549	FEZF1	HP:0000823	Delayed puberty
389549	FEZF1	HP:0040171	Decreased serum testosterone concentration
389549	FEZF1	HP:0008064	Ichthyosis
389549	FEZF1	HP:0030016	Dyspareunia
389549	FEZF1	HP:0001513	Obesity
389549	FEZF1	HP:0001608	Abnormality of the voice
389549	FEZF1	HP:0000407	Sensorineural hearing impairment
389549	FEZF1	HP:0000458	Anosmia
389549	FEZF1	HP:0001763	Pes planus
389549	FEZF1	HP:0001761	Pes cavus
389549	FEZF1	HP:0000508	Ptosis
389549	FEZF1	HP:0000505	Visual impairment
389549	FEZF1	HP:0030344	Decreased circulating luteinizing hormone level
389549	FEZF1	HP:0030341	Decreased circulating follicle stimulating hormone concentration
389549	FEZF1	HP:0000551	Color vision defect
389692	MAFA	HP:0000006	Autosomal dominant inheritance
389692	MAFA	HP:0012197	Insulinoma
389692	MAFA	HP:0005978	Type II diabetes mellitus
389692	MAFA	HP:0040270	Impaired glucose tolerance
389692	MAFA	HP:0008194	Multiple pancreatic beta-cell adenomas
389692	MAFA	HP:0003596	Middle age onset
389692	MAFA	HP:0003584	Late onset
389692	MAFA	HP:0001087	Developmental glaucoma
389692	MAFA	HP:0003621	Juvenile onset
389692	MAFA	HP:0011462	Young adult onset
389692	MAFA	HP:0000825	Hyperinsulinemic hypoglycemia
389692	MAFA	HP:0000519	Developmental cataract
389827	MYMK	HP:0001182	Tapered finger
389827	MYMK	HP:0001156	Brachydactyly
389827	MYMK	HP:0002460	Distal muscle weakness
389827	MYMK	HP:0003701	Proximal muscle weakness
389827	MYMK	HP:0001290	Generalized hypotonia
389827	MYMK	HP:0001270	Motor delay
389827	MYMK	HP:0001250	Seizure
389827	MYMK	HP:0001252	Hypotonia
389827	MYMK	HP:0001249	Intellectual disability
389827	MYMK	HP:0001263	Global developmental delay
389827	MYMK	HP:0007360	Aplasia/Hypoplasia of the cerebellum
389827	MYMK	HP:0033628	Bowel irritability
389827	MYMK	HP:0002514	Cerebral calcification
389827	MYMK	HP:0001371	Flexion contracture
389827	MYMK	HP:0001357	Plagiocephaly
389827	MYMK	HP:0000028	Cryptorchidism
389827	MYMK	HP:0000007	Autosomal recessive inheritance
389827	MYMK	HP:0002650	Scoliosis
389827	MYMK	HP:0000162	Glossoptosis
389827	MYMK	HP:0000175	Cleft palate
389827	MYMK	HP:0000171	Microglossia
389827	MYMK	HP:0008998	Pectoralis hypoplasia
389827	MYMK	HP:0000126	Hydronephrosis
389827	MYMK	HP:0002020	Gastroesophageal reflux
389827	MYMK	HP:0002015	Dysphagia
389827	MYMK	HP:0003306	Spinal rigidity
389827	MYMK	HP:0002092	Pulmonary arterial hypertension
389827	MYMK	HP:0002093	Respiratory insufficiency
389827	MYMK	HP:0009465	Ulnar deviation of finger
389827	MYMK	HP:0002119	Ventriculomegaly
389827	MYMK	HP:0003593	Infantile onset
389827	MYMK	HP:0100735	Hypertensive crisis
389827	MYMK	HP:0011968	Feeding difficulties
389827	MYMK	HP:0010628	Facial palsy
389827	MYMK	HP:0002365	Hypoplasia of the brainstem
389827	MYMK	HP:0003677	Slowly progressive
389827	MYMK	HP:0009751	Aplasia of the pectoralis major muscle
389827	MYMK	HP:0003621	Juvenile onset
389827	MYMK	HP:0006824	Cranial nerve paralysis
389827	MYMK	HP:0006829	Severe muscular hypotonia
389827	MYMK	HP:0006897	Abducens palsy
389827	MYMK	HP:0000634	Impaired ocular abduction
389827	MYMK	HP:0000602	Ophthalmoplegia
389827	MYMK	HP:0009004	Hypoplasia of the musculature
389827	MYMK	HP:0004322	Short stature
389827	MYMK	HP:0000807	Glandular hypospadias
389827	MYMK	HP:0003198	Myopathy
389827	MYMK	HP:0003196	Short nose
389827	MYMK	HP:0010295	Aplasia/Hypoplasia of the tongue
389827	MYMK	HP:0003236	Elevated circulating creatine kinase concentration
389827	MYMK	HP:0003202	Skeletal muscle atrophy
389827	MYMK	HP:0000286	Epicanthus
389827	MYMK	HP:0000278	Retrognathia
389827	MYMK	HP:0012246	Oculomotor nerve palsy
389827	MYMK	HP:0000256	Macrocephaly
389827	MYMK	HP:0000252	Microcephaly
389827	MYMK	HP:0000218	High palate
389827	MYMK	HP:0000233	Thin vermilion border
389827	MYMK	HP:0030001	Lagophthalmos
389827	MYMK	HP:0001558	Decreased fetal movement
389827	MYMK	HP:0000211	Trismus
389827	MYMK	HP:0000201	Pierre-Robin sequence
389827	MYMK	HP:0001508	Failure to thrive
389827	MYMK	HP:0001510	Growth delay
389827	MYMK	HP:0001602	Laryngeal stenosis
389827	MYMK	HP:0001600	Abnormality of the larynx
389827	MYMK	HP:0001671	Abnormal cardiac septum morphology
389827	MYMK	HP:0000343	Long philtrum
389827	MYMK	HP:0000347	Micrognathia
389827	MYMK	HP:0030319	Weakness of facial musculature
389827	MYMK	HP:0000407	Sensorineural hearing impairment
389827	MYMK	HP:0005280	Depressed nasal bridge
389827	MYMK	HP:0000494	Downslanted palpebral fissures
389827	MYMK	HP:0000463	Anteverted nares
389827	MYMK	HP:0000455	Broad nasal tip
389827	MYMK	HP:0001762	Talipes equinovarus
389827	MYMK	HP:0000518	Cataract
389827	MYMK	HP:0000508	Ptosis
389827	MYMK	HP:0000501	Glaucoma
389856	USP27X	HP:0001249	Intellectual disability
389856	USP27X	HP:0001344	Absent speech
389856	USP27X	HP:0001419	X-linked recessive inheritance
390594	KBTBD13	HP:0002483	Bulbar signs
390594	KBTBD13	HP:0003798	Nemaline bodies
390594	KBTBD13	HP:0003722	Neck flexor weakness
390594	KBTBD13	HP:0001290	Generalized hypotonia
390594	KBTBD13	HP:0001270	Motor delay
390594	KBTBD13	HP:0001288	Gait disturbance
390594	KBTBD13	HP:0001284	Areflexia
390594	KBTBD13	HP:0001265	Hyporeflexia
390594	KBTBD13	HP:0002515	Waddling gait
390594	KBTBD13	HP:0003803	Type 1 muscle fiber predominance
390594	KBTBD13	HP:0001371	Flexion contracture
390594	KBTBD13	HP:0001349	Facial diplegia
390594	KBTBD13	HP:0000006	Autosomal dominant inheritance
390594	KBTBD13	HP:0002650	Scoliosis
390594	KBTBD13	HP:0002792	Reduced vital capacity
390594	KBTBD13	HP:0002747	Respiratory insufficiency due to muscle weakness
390594	KBTBD13	HP:0003306	Spinal rigidity
390594	KBTBD13	HP:0002067	Bradykinesia
390594	KBTBD13	HP:0002068	Neuromuscular dysphagia
390594	KBTBD13	HP:0008180	Mildly elevated creatine kinase
390594	KBTBD13	HP:0003458	EMG: myopathic abnormalities
390594	KBTBD13	HP:0003552	Muscle stiffness
390594	KBTBD13	HP:0003551	Difficulty climbing stairs
390594	KBTBD13	HP:0003546	Exercise intolerance
390594	KBTBD13	HP:0003557	Increased variability in muscle fiber diameter
390594	KBTBD13	HP:0007010	Poor fine motor coordination
390594	KBTBD13	HP:0011968	Feeding difficulties
390594	KBTBD13	HP:0010628	Facial palsy
390594	KBTBD13	HP:0003691	Scapular winging
390594	KBTBD13	HP:0003690	Limb muscle weakness
390594	KBTBD13	HP:0002355	Difficulty walking
390594	KBTBD13	HP:0003677	Slowly progressive
390594	KBTBD13	HP:0002312	Clumsiness
390594	KBTBD13	HP:0009055	Generalized limb muscle atrophy
390594	KBTBD13	HP:0009058	Increased muscle lipid content
390594	KBTBD13	HP:0009046	Difficulty running
390594	KBTBD13	HP:0001989	Fetal akinesia sequence
390594	KBTBD13	HP:0011463	Childhood onset
390594	KBTBD13	HP:0000774	Narrow chest
390594	KBTBD13	HP:0003198	Myopathy
390594	KBTBD13	HP:0003236	Elevated circulating creatine kinase concentration
390594	KBTBD13	HP:0003202	Skeletal muscle atrophy
390594	KBTBD13	HP:0000275	Narrow face
390594	KBTBD13	HP:0000276	Long face
390594	KBTBD13	HP:0002804	Arthrogryposis multiplex congenita
390594	KBTBD13	HP:0000218	High palate
390594	KBTBD13	HP:0001561	Polyhydramnios
390594	KBTBD13	HP:0001533	Slender build
390594	KBTBD13	HP:0030192	Fatigable weakness of bulbar muscles
390594	KBTBD13	HP:0000347	Micrognathia
390594	KBTBD13	HP:0000316	Hypertelorism
390594	KBTBD13	HP:0001623	Breech presentation
390594	KBTBD13	HP:0001638	Cardiomyopathy
390594	KBTBD13	HP:0000467	Neck muscle weakness
390594	KBTBD13	HP:0001761	Pes cavus
390594	KBTBD13	HP:0000508	Ptosis
392255	GDF6	HP:0001156	Brachydactyly
392255	GDF6	HP:0001141	Severely reduced visual acuity
392255	GDF6	HP:0009911	Abnormal temporal bone morphology
392255	GDF6	HP:0032284	Ultra-low vision with retained motion projection
392255	GDF6	HP:0002414	Spina bifida
392255	GDF6	HP:0007291	Posterior fossa cyst
392255	GDF6	HP:0001291	Abnormal cranial nerve morphology
392255	GDF6	HP:0001250	Seizure
392255	GDF6	HP:0001252	Hypotonia
392255	GDF6	HP:0001249	Intellectual disability
392255	GDF6	HP:0001263	Global developmental delay
392255	GDF6	HP:0010984	Digenic inheritance
392255	GDF6	HP:0008678	Renal hypoplasia/aplasia
392255	GDF6	HP:0000077	Abnormality of the kidney
392255	GDF6	HP:0000007	Autosomal recessive inheritance
392255	GDF6	HP:0001335	Bimanual synkinesia
392255	GDF6	HP:0000006	Autosomal dominant inheritance
392255	GDF6	HP:0002650	Scoliosis
392255	GDF6	HP:0000175	Cleft palate
392255	GDF6	HP:0007633	Bilateral microphthalmos
392255	GDF6	HP:0000122	Unilateral renal agenesis
392255	GDF6	HP:0002023	Anal atresia
392255	GDF6	HP:0005988	Congenital muscular torticollis
392255	GDF6	HP:0002084	Encephalocele
392255	GDF6	HP:0100543	Cognitive impairment
392255	GDF6	HP:0004602	Cervical C2/C3 vertebral fusion
392255	GDF6	HP:0010469	Absent testis
392255	GDF6	HP:0002162	Low posterior hairline
392255	GDF6	HP:0002269	Abnormality of neuronal migration
392255	GDF6	HP:0008368	Tarsal synostosis
392255	GDF6	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
392255	GDF6	HP:0000639	Nystagmus
392255	GDF6	HP:0005640	Abnormal vertebral segmentation and fusion
392255	GDF6	HP:0030680	Abnormality of cardiovascular system morphology
392255	GDF6	HP:0004397	Ectopic anus
392255	GDF6	HP:0004374	Hemiplegia/hemiparesis
392255	GDF6	HP:0003043	Abnormal shoulder morphology
392255	GDF6	HP:0000772	Abnormal rib morphology
392255	GDF6	HP:0000707	Abnormality of the nervous system
392255	GDF6	HP:0012795	Abnormal optic disc morphology
392255	GDF6	HP:0000912	Sprengel anomaly
392255	GDF6	HP:0000925	Abnormality of the vertebral column
392255	GDF6	HP:0100259	Postaxial polydactyly
392255	GDF6	HP:0007703	Abnormality of retinal pigmentation
392255	GDF6	HP:0005107	Abnormal sacrum morphology
392255	GDF6	HP:0007766	Optic disc hypoplasia
392255	GDF6	HP:0007750	Hypoplasia of the fovea
392255	GDF6	HP:0002813	Abnormality of limb bone morphology
392255	GDF6	HP:0000362	Otosclerosis
392255	GDF6	HP:0000365	Hearing impairment
392255	GDF6	HP:0000324	Facial asymmetry
392255	GDF6	HP:0001629	Ventricular septal defect
392255	GDF6	HP:0030325	Cervicomedullary schisis
392255	GDF6	HP:0000407	Sensorineural hearing impairment
392255	GDF6	HP:0000405	Conductive hearing impairment
392255	GDF6	HP:0000470	Short neck
392255	GDF6	HP:0000466	Limited neck range of motion
392255	GDF6	HP:0000465	Webbed neck
392255	GDF6	HP:0001769	Broad foot
392255	GDF6	HP:0001763	Pes planus
392255	GDF6	HP:0000410	Mixed hearing impairment
392255	GDF6	HP:0000518	Cataract
392255	GDF6	HP:0001845	Overlapping toe
392255	GDF6	HP:0000512	Abnormal electroretinogram
392255	GDF6	HP:0000505	Visual impairment
392255	GDF6	HP:0000589	Coloboma
392255	GDF6	HP:0000563	Keratoconus
392255	GDF6	HP:0000568	Microphthalmia
400916	CHCHD10	HP:0002483	Bulbar signs
400916	CHCHD10	HP:0002493	Upper motor neuron dysfunction
400916	CHCHD10	HP:0002460	Distal muscle weakness
400916	CHCHD10	HP:0002442	Dyscalculia
400916	CHCHD10	HP:0008619	Bilateral sensorineural hearing impairment
400916	CHCHD10	HP:0007269	Spinal muscular atrophy
400916	CHCHD10	HP:0003722	Neck flexor weakness
400916	CHCHD10	HP:0003701	Proximal muscle weakness
400916	CHCHD10	HP:0003700	Generalized amyotrophy
400916	CHCHD10	HP:0003710	Exercise-induced muscle cramps
400916	CHCHD10	HP:0001288	Gait disturbance
400916	CHCHD10	HP:0001283	Bulbar palsy
400916	CHCHD10	HP:0001284	Areflexia
400916	CHCHD10	HP:0001251	Ataxia
400916	CHCHD10	HP:0001265	Hyporeflexia
400916	CHCHD10	HP:0001260	Dysarthria
400916	CHCHD10	HP:0001257	Spasticity
400916	CHCHD10	HP:0007373	Motor neuron atrophy
400916	CHCHD10	HP:0007354	Amyotrophic lateral sclerosis
400916	CHCHD10	HP:0002540	Inability to walk
400916	CHCHD10	HP:0003805	Rimmed vacuoles
400916	CHCHD10	HP:0001324	Muscle weakness
400916	CHCHD10	HP:0000011	Neurogenic bladder
400916	CHCHD10	HP:0001337	Tremor
400916	CHCHD10	HP:0000006	Autosomal dominant inheritance
400916	CHCHD10	HP:0001308	Tongue fasciculations
400916	CHCHD10	HP:0001300	Parkinsonism
400916	CHCHD10	HP:0025425	Laryngospasm
400916	CHCHD10	HP:0008994	Proximal muscle weakness in lower limbs
400916	CHCHD10	HP:0008997	Proximal muscle weakness in upper limbs
400916	CHCHD10	HP:0008981	Calf muscle hypertrophy
400916	CHCHD10	HP:0008985	Increased intramuscular fat
400916	CHCHD10	HP:0008954	Intrinsic hand muscle atrophy
400916	CHCHD10	HP:0002795	Abnormal respiratory system physiology
400916	CHCHD10	HP:0002017	Nausea and vomiting
400916	CHCHD10	HP:0002015	Dysphagia
400916	CHCHD10	HP:0003324	Generalized muscle weakness
400916	CHCHD10	HP:0002086	Abnormality of the respiratory system
400916	CHCHD10	HP:0100543	Cognitive impairment
400916	CHCHD10	HP:0002094	Dyspnea
400916	CHCHD10	HP:0002091	Restrictive ventilatory defect
400916	CHCHD10	HP:0003394	Muscle spasm
400916	CHCHD10	HP:0002073	Progressive cerebellar ataxia
400916	CHCHD10	HP:0002071	Abnormality of extrapyramidal motor function
400916	CHCHD10	HP:0008180	Mildly elevated creatine kinase
400916	CHCHD10	HP:0002145	Frontotemporal dementia
400916	CHCHD10	HP:0003470	Paralysis
400916	CHCHD10	HP:0003487	Babinski sign
400916	CHCHD10	HP:0002151	Increased serum lactate
400916	CHCHD10	HP:0002120	Cerebral cortical atrophy
400916	CHCHD10	HP:0003449	Cold-induced muscle cramps
400916	CHCHD10	HP:0002127	Abnormal upper motor neuron morphology
400916	CHCHD10	HP:0003458	EMG: myopathic abnormalities
400916	CHCHD10	HP:0003445	EMG: neuropathic changes
400916	CHCHD10	HP:0011924	Decreased activity of mitochondrial complex III
400916	CHCHD10	HP:0002186	Apraxia
400916	CHCHD10	HP:0002180	Neurodegeneration
400916	CHCHD10	HP:0002171	Gliosis
400916	CHCHD10	HP:0010549	Weakness due to upper motor neuron dysfunction
400916	CHCHD10	HP:0003596	Middle age onset
400916	CHCHD10	HP:0002273	Tetraparesis
400916	CHCHD10	HP:0003584	Late onset
400916	CHCHD10	HP:0003546	Exercise intolerance
400916	CHCHD10	HP:0002283	Global brain atrophy
400916	CHCHD10	HP:0008347	Decreased activity of mitochondrial complex IV
400916	CHCHD10	HP:0008322	Abnormal mitochondrial morphology
400916	CHCHD10	HP:0010628	Facial palsy
400916	CHCHD10	HP:0008314	Decreased activity of mitochondrial complex II
400916	CHCHD10	HP:0002385	Paraparesis
400916	CHCHD10	HP:0002380	Fasciculations
400916	CHCHD10	HP:0002366	Abnormal lower motor neuron morphology
400916	CHCHD10	HP:0003676	Progressive
400916	CHCHD10	HP:0002355	Difficulty walking
400916	CHCHD10	HP:0003677	Slowly progressive
400916	CHCHD10	HP:0002314	Degeneration of the lateral corticospinal tracts
400916	CHCHD10	HP:0002300	Mutism
400916	CHCHD10	HP:0007190	Neuronal loss in the cerebral cortex
400916	CHCHD10	HP:0006886	Impaired distal vibration sensation
400916	CHCHD10	HP:0000605	Supranuclear gaze palsy
400916	CHCHD10	HP:0009053	Distal lower limb muscle weakness
400916	CHCHD10	HP:0004322	Short stature
400916	CHCHD10	HP:0031921	Gastrocnemius myalgia
400916	CHCHD10	HP:0000738	Hallucinations
400916	CHCHD10	HP:0000739	Anxiety
400916	CHCHD10	HP:0000734	Disinhibition
400916	CHCHD10	HP:0000741	Apathy
400916	CHCHD10	HP:0000716	Depression
400916	CHCHD10	HP:0000712	Emotional lability
400916	CHCHD10	HP:0000713	Agitation
400916	CHCHD10	HP:0000727	Frontal lobe dementia
400916	CHCHD10	HP:0000708	Atypical behavior
400916	CHCHD10	HP:0011463	Childhood onset
400916	CHCHD10	HP:0040014	Increased mitochondrial number
400916	CHCHD10	HP:0003236	Elevated circulating creatine kinase concentration
400916	CHCHD10	HP:0003202	Skeletal muscle atrophy
400916	CHCHD10	HP:0003200	Ragged-red muscle fibers
400916	CHCHD10	HP:0040132	Abnormal sensory nerve conduction velocity
400916	CHCHD10	HP:0012240	Increased intramyocellular lipid droplets
400916	CHCHD10	HP:0000217	Xerostomia
400916	CHCHD10	HP:0002878	Respiratory failure
400916	CHCHD10	HP:0012378	Fatigue
400916	CHCHD10	HP:0002936	Distal sensory impairment
400916	CHCHD10	HP:0030196	Fatigable weakness of respiratory muscles
400916	CHCHD10	HP:0030195	Fatigable weakness of swallowing muscles
400916	CHCHD10	HP:0030192	Fatigable weakness of bulbar muscles
400916	CHCHD10	HP:0030319	Weakness of facial musculature
400916	CHCHD10	HP:0000407	Sensorineural hearing impairment
400916	CHCHD10	HP:0030223	Manifestations of perseverative thought or action
400916	CHCHD10	HP:0001763	Pes planus
400916	CHCHD10	HP:0001765	Hammertoe
400916	CHCHD10	HP:0025710	Late young adult onset
400916	CHCHD10	HP:0001761	Pes cavus
400916	CHCHD10	HP:0000508	Ptosis
400916	CHCHD10	HP:0012531	Pain
401024	FSIP2	HP:0033525	Absent sperm axoneme central pair complex
401024	FSIP2	HP:0000007	Autosomal recessive inheritance
401024	FSIP2	HP:0032558	Absent sperm flagella
401024	FSIP2	HP:0032559	Short sperm flagella
401024	FSIP2	HP:0032560	Coiled sperm flagella
401024	FSIP2	HP:0033393	Irregularly shaped sperm tail
401024	FSIP2	HP:0011462	Young adult onset
401024	FSIP2	HP:0003251	Male infertility
401024	FSIP2	HP:0012207	Reduced sperm motility
401138	AMTN	HP:0000006	Autosomal dominant inheritance
401138	AMTN	HP:0006285	Enamel hypomineralization
401138	AMTN	HP:0003593	Infantile onset
401138	AMTN	HP:0000705	Amelogenesis imperfecta
401474	SAMD12	HP:0010852	EEG with photoparoxysmal response
401474	SAMD12	HP:0001249	Intellectual disability
401474	SAMD12	HP:0007359	Focal-onset seizure
401474	SAMD12	HP:0001351	Jerk-locked premyoclonus spikes
401474	SAMD12	HP:0001326	EEG with irregular generalized spike and wave complexes
401474	SAMD12	HP:0001340	Enhancement of the C-reflex
401474	SAMD12	HP:0001337	Tremor
401474	SAMD12	HP:0000006	Autosomal dominant inheritance
401474	SAMD12	HP:0001336	Myoclonus
401474	SAMD12	HP:0001312	Giant somatosensory evoked potentials
401474	SAMD12	HP:0002069	Bilateral tonic-clonic seizure
401474	SAMD12	HP:0100576	Amaurosis fugax
401474	SAMD12	HP:0002123	Generalized myoclonic seizure
401474	SAMD12	HP:0002197	Generalized-onset seizure
401474	SAMD12	HP:0003581	Adult onset
401474	SAMD12	HP:0002378	Hand tremor
401474	SAMD12	HP:0002353	EEG abnormality
401474	SAMD12	HP:0003680	Nonprogressive
401474	SAMD12	HP:0002315	Headache
402381	SOHLH1	HP:0008734	Decreased testicular size
402381	SOHLH1	HP:0008669	Abnormal spermatogenesis
402381	SOHLH1	HP:0000027	Azoospermia
402381	SOHLH1	HP:0000013	Hypoplasia of the uterus
402381	SOHLH1	HP:0000007	Autosomal recessive inheritance
402381	SOHLH1	HP:0000006	Autosomal dominant inheritance
402381	SOHLH1	HP:0000118	Phenotypic abnormality
402381	SOHLH1	HP:0002750	Delayed skeletal maturation
402381	SOHLH1	HP:0008232	Elevated circulating follicle stimulating hormone level
402381	SOHLH1	HP:0008214	Decreased serum estradiol
402381	SOHLH1	HP:0011969	Elevated circulating luteinizing hormone level
402381	SOHLH1	HP:0011961	Non-obstructive azoospermia
402381	SOHLH1	HP:0011962	Obstructive azoospermia
402381	SOHLH1	HP:0003621	Juvenile onset
402381	SOHLH1	HP:0004322	Short stature
402381	SOHLH1	HP:0011462	Young adult onset
402381	SOHLH1	HP:0000786	Primary amenorrhea
402381	SOHLH1	HP:0034299	Sertoli cell-only phenotype
402381	SOHLH1	HP:0000837	Increased circulating gonadotropin level
402381	SOHLH1	HP:0003251	Male infertility
402381	SOHLH1	HP:0025708	Early young adult onset
404672	GTF2H5	HP:0008619	Bilateral sensorineural hearing impairment
404672	GTF2H5	HP:0001197	Abnormality of prenatal development or birth
404672	GTF2H5	HP:0410219	Hypoplasia of mandible relative to maxilla
404672	GTF2H5	HP:0007266	Cerebral dysmyelination
404672	GTF2H5	HP:0007256	Abnormal pyramidal sign
404672	GTF2H5	HP:0009886	Trichorrhexis nodosa
404672	GTF2H5	HP:0001290	Generalized hypotonia
404672	GTF2H5	HP:0001276	Hypertonia
404672	GTF2H5	HP:0001249	Intellectual disability
404672	GTF2H5	HP:0001265	Hyporeflexia
404672	GTF2H5	HP:0001260	Dysarthria
404672	GTF2H5	HP:0001263	Global developmental delay
404672	GTF2H5	HP:0001257	Spasticity
404672	GTF2H5	HP:0002562	Low-set nipples
404672	GTF2H5	HP:0007431	Congenital ichthyosiform erythroderma
404672	GTF2H5	HP:0007381	Congenital exfoliative erythroderma
404672	GTF2H5	HP:0008689	Bilateral cryptorchidism
404672	GTF2H5	HP:0001217	Clubbing
404672	GTF2H5	HP:0001373	Joint dislocation
404672	GTF2H5	HP:0001363	Craniosynostosis
404672	GTF2H5	HP:0000028	Cryptorchidism
404672	GTF2H5	HP:0007495	Prematurely aged appearance
404672	GTF2H5	HP:0007485	Absence of subcutaneous fat
404672	GTF2H5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
404672	GTF2H5	HP:0001338	Partial agenesis of the corpus callosum
404672	GTF2H5	HP:0000007	Autosomal recessive inheritance
404672	GTF2H5	HP:0025428	Bronchospasm
404672	GTF2H5	HP:0007633	Bilateral microphthalmos
404672	GTF2H5	HP:0002705	High, narrow palate
404672	GTF2H5	HP:0006297	Enamel hypoplasia
404672	GTF2H5	HP:0007587	Numerous pigmented freckles
404672	GTF2H5	HP:0000133	Gonadal dysgenesis
404672	GTF2H5	HP:0002750	Delayed skeletal maturation
404672	GTF2H5	HP:0002719	Recurrent infections
404672	GTF2H5	HP:0002021	Pyloric stenosis
404672	GTF2H5	HP:0002080	Intention tremor
404672	GTF2H5	HP:0002066	Gait ataxia
404672	GTF2H5	HP:0033134	Abdominal adhesions
404672	GTF2H5	HP:0002120	Cerebral cortical atrophy
404672	GTF2H5	HP:0002119	Ventriculomegaly
404672	GTF2H5	HP:0002188	Delayed CNS myelination
404672	GTF2H5	HP:0002197	Generalized-onset seizure
404672	GTF2H5	HP:0010551	Paraplegia/paraparesis
404672	GTF2H5	HP:0002245	Meckel diverticulum
404672	GTF2H5	HP:0003577	Congenital onset
404672	GTF2H5	HP:0002209	Sparse scalp hair
404672	GTF2H5	HP:0002299	Brittle hair
404672	GTF2H5	HP:0002293	Alopecia of scalp
404672	GTF2H5	HP:0007034	Generalized hyperreflexia
404672	GTF2H5	HP:0011968	Feeding difficulties
404672	GTF2H5	HP:0008391	Dystrophic fingernails
404672	GTF2H5	HP:0008386	Aplasia/Hypoplasia of the nails
404672	GTF2H5	HP:0009830	Peripheral neuropathy
404672	GTF2H5	HP:0001097	Keratoconjunctivitis sicca
404672	GTF2H5	HP:0000639	Nystagmus
404672	GTF2H5	HP:0000613	Photophobia
404672	GTF2H5	HP:0000608	Macular degeneration
404672	GTF2H5	HP:0000601	Hypotelorism
404672	GTF2H5	HP:0001903	Anemia
404672	GTF2H5	HP:0000695	Natal tooth
404672	GTF2H5	HP:0000656	Ectropion
404672	GTF2H5	HP:0000670	Carious teeth
404672	GTF2H5	HP:0004322	Short stature
404672	GTF2H5	HP:0006970	Periventricular leukomalacia
404672	GTF2H5	HP:0003079	Defective DNA repair after ultraviolet radiation damage
404672	GTF2H5	HP:0012760	Reduced social reciprocity
404672	GTF2H5	HP:0003139	Panhypogammaglobulinemia
404672	GTF2H5	HP:0045055	Tiger tail banding
404672	GTF2H5	HP:0003261	Increased circulating IgA level
404672	GTF2H5	HP:0100275	Diffuse cerebellar atrophy
404672	GTF2H5	HP:0000992	Cutaneous photosensitivity
404672	GTF2H5	HP:0000958	Dry skin
404672	GTF2H5	HP:0000964	Eczema
404672	GTF2H5	HP:0000938	Osteopenia
404672	GTF2H5	HP:0008064	Ichthyosis
404672	GTF2H5	HP:0008069	Neoplasm of the skin
404672	GTF2H5	HP:0000286	Epicanthus
404672	GTF2H5	HP:0000280	Coarse facial features
404672	GTF2H5	HP:0000278	Retrognathia
404672	GTF2H5	HP:0025548	Increased mean corpuscular hemoglobin concentration
404672	GTF2H5	HP:0001598	Concave nail
404672	GTF2H5	HP:0002828	Multiple joint contractures
404672	GTF2H5	HP:0000243	Trigonocephaly
404672	GTF2H5	HP:0000252	Microcephaly
404672	GTF2H5	HP:0002860	Squamous cell carcinoma
404672	GTF2H5	HP:0001537	Umbilical hernia
404672	GTF2H5	HP:0001508	Failure to thrive
404672	GTF2H5	HP:0001511	Intrauterine growth retardation
404672	GTF2H5	HP:0006538	Recurrent bronchopulmonary infections
404672	GTF2H5	HP:0001618	Dysphonia
404672	GTF2H5	HP:0002942	Thoracic kyphosis
404672	GTF2H5	HP:0000365	Hearing impairment
404672	GTF2H5	HP:0000369	Low-set ears
404672	GTF2H5	HP:0011001	Increased bone mineral density
404672	GTF2H5	HP:0000320	Bird-like facies
404672	GTF2H5	HP:0000316	Hypertelorism
404672	GTF2H5	HP:0001629	Ventricular septal defect
404672	GTF2H5	HP:0001638	Cardiomyopathy
404672	GTF2H5	HP:0000483	Astigmatism
404672	GTF2H5	HP:0000486	Strabismus
404672	GTF2H5	HP:0000482	Microcornea
404672	GTF2H5	HP:0012472	Eclabion
404672	GTF2H5	HP:0000411	Protruding ear
404672	GTF2H5	HP:0000518	Cataract
404672	GTF2H5	HP:0000519	Developmental cataract
404672	GTF2H5	HP:0000509	Conjunctivitis
404672	GTF2H5	HP:0001809	Split nail
404672	GTF2H5	HP:0001808	Fragile nails
404672	GTF2H5	HP:0001807	Ridged nail
404672	GTF2H5	HP:0001888	Lymphopenia
404672	GTF2H5	HP:0000568	Microphthalmia
404672	GTF2H5	HP:0000565	Esotropia
404672	GTF2H5	HP:0000546	Retinal degeneration
404672	GTF2H5	HP:0000545	Myopia
404672	GTF2H5	HP:0001875	Neutropenia
405753	DUOXA2	HP:0001254	Lethargy
405753	DUOXA2	HP:0001252	Hypotonia
405753	DUOXA2	HP:0001249	Intellectual disability
405753	DUOXA2	HP:0001265	Hyporeflexia
405753	DUOXA2	HP:0008872	Feeding difficulties in infancy
405753	DUOXA2	HP:0008828	Delayed proximal femoral epiphyseal ossification
405753	DUOXA2	HP:0000007	Autosomal recessive inheritance
405753	DUOXA2	HP:0025483	Abnormal circulating thyroglobulin level
405753	DUOXA2	HP:0025482	Positive perchlorate discharge test
405753	DUOXA2	HP:0000158	Macroglossia
405753	DUOXA2	HP:0031219	Reduced radioactive iodine uptake
405753	DUOXA2	HP:0031220	Increased radioactive iodine uptake
405753	DUOXA2	HP:0002019	Constipation
405753	DUOXA2	HP:0002045	Hypothermia
405753	DUOXA2	HP:0005930	Abnormal epiphysis morphology
405753	DUOXA2	HP:0008263	Thyroid defect in oxidation and organification of iodide
405753	DUOXA2	HP:0001939	Abnormality of metabolism/homeostasis
405753	DUOXA2	HP:0011437	Maternal autoimmune disease
405753	DUOXA2	HP:0012758	Neurodevelopmental delay
405753	DUOXA2	HP:0004491	Large posterior fontanelle
405753	DUOXA2	HP:0000851	Congenital hypothyroidism
405753	DUOXA2	HP:0000853	Goiter
405753	DUOXA2	HP:0000821	Hypothyroidism
405753	DUOXA2	HP:0003265	Neonatal hyperbilirubinemia
405753	DUOXA2	HP:0000282	Facial edema
405753	DUOXA2	HP:0000270	Delayed cranial suture closure
405753	DUOXA2	HP:0001537	Umbilical hernia
405753	DUOXA2	HP:0001510	Growth delay
405753	DUOXA2	HP:0031507	Decreased circulating T4 concentration
405753	DUOXA2	HP:0006579	Prolonged neonatal jaundice
405753	DUOXA2	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
405753	DUOXA2	HP:0001662	Bradycardia
405753	DUOXA2	HP:0000407	Sensorineural hearing impairment
405753	DUOXA2	HP:0005280	Depressed nasal bridge
406932	MIR140	HP:0001156	Brachydactyly
406932	MIR140	HP:0001249	Intellectual disability
406932	MIR140	HP:0008873	Disproportionate short-limb short stature
406932	MIR140	HP:0002663	Delayed epiphyseal ossification
406932	MIR140	HP:0000006	Autosomal dominant inheritance
406932	MIR140	HP:0002758	Osteoarthritis
406932	MIR140	HP:0011800	Midface retrusion
406932	MIR140	HP:0010579	Cone-shaped epiphysis
406932	MIR140	HP:0002205	Recurrent respiratory infections
406932	MIR140	HP:0200055	Small hand
406932	MIR140	HP:0003196	Short nose
406932	MIR140	HP:0005348	Inspiratory stridor
406932	MIR140	HP:0000505	Visual impairment
406960	MIR184	HP:0001134	Anterior polar cataract
406960	MIR184	HP:0000006	Autosomal dominant inheritance
406960	MIR184	HP:0007676	Hypoplasia of the iris
406960	MIR184	HP:0007663	Reduced visual acuity
406960	MIR184	HP:0011463	Childhood onset
406960	MIR184	HP:0000483	Astigmatism
406960	MIR184	HP:0000482	Microcornea
406960	MIR184	HP:0000505	Visual impairment
406960	MIR184	HP:0000563	Keratoconus
406987	MIR204	HP:0001105	Retinal atrophy
406987	MIR204	HP:0000006	Autosomal dominant inheritance
406987	MIR204	HP:0007663	Reduced visual acuity
406987	MIR204	HP:0000612	Iris coloboma
406987	MIR204	HP:0011484	Posterior synechiae of the anterior chamber
406987	MIR204	HP:0000519	Developmental cataract
407053	MIR96	HP:0000006	Autosomal dominant inheritance
407053	MIR96	HP:0000360	Tinnitus
407053	MIR96	HP:0000408	Progressive sensorineural hearing impairment
407053	MIR96	HP:0000407	Sensorineural hearing impairment
407053	MIR96	HP:0001730	Progressive hearing impairment
407975	MIR17HG	HP:0001156	Brachydactyly
407975	MIR17HG	HP:0001249	Intellectual disability
407975	MIR17HG	HP:0009778	Short thumb
407975	MIR17HG	HP:0001999	Abnormal facial shape
407975	MIR17HG	HP:0004322	Short stature
407975	MIR17HG	HP:0000739	Anxiety
407975	MIR17HG	HP:0000712	Emotional lability
407975	MIR17HG	HP:0000708	Atypical behavior
407975	MIR17HG	HP:0012758	Neurodevelopmental delay
407975	MIR17HG	HP:0000924	Abnormality of the skeletal system
407975	MIR17HG	HP:0005819	Short middle phalanx of finger
407975	MIR17HG	HP:0000252	Microcephaly
407975	MIR17HG	HP:0005235	Jejunal atresia
407975	MIR17HG	HP:0001629	Ventricular septal defect
407975	MIR17HG	HP:0001770	Toe syndactyly
431705	ASTL	HP:0000007	Autosomal recessive inheritance
431705	ASTL	HP:0008222	Female infertility
431705	ASTL	HP:0011462	Young adult onset
440138	ALG11	HP:0010851	EEG with burst suppression
440138	ALG11	HP:0001276	Hypertonia
440138	ALG11	HP:0001250	Seizure
440138	ALG11	HP:0001252	Hypotonia
440138	ALG11	HP:0001251	Ataxia
440138	ALG11	HP:0001249	Intellectual disability
440138	ALG11	HP:0001263	Global developmental delay
440138	ALG11	HP:0002572	Episodic vomiting
440138	ALG11	HP:0002509	Limb hypertonia
440138	ALG11	HP:0002500	Abnormal cerebral white matter morphology
440138	ALG11	HP:0003819	Death in childhood
440138	ALG11	HP:0001347	Hyperreflexia
440138	ALG11	HP:0001344	Absent speech
440138	ALG11	HP:0000007	Autosomal recessive inheritance
440138	ALG11	HP:0002650	Scoliosis
440138	ALG11	HP:0001319	Neonatal hypotonia
440138	ALG11	HP:0008947	Infantile muscular hypotonia
440138	ALG11	HP:0008936	Axial hypotonia
440138	ALG11	HP:0002013	Vomiting
440138	ALG11	HP:0005968	Temperature instability
440138	ALG11	HP:0002059	Cerebral atrophy
440138	ALG11	HP:0002179	Opisthotonus
440138	ALG11	HP:0011842	Abnormal skeletal morphology
440138	ALG11	HP:0003593	Infantile onset
440138	ALG11	HP:0002282	Gray matter heterotopia
440138	ALG11	HP:0011968	Feeding difficulties
440138	ALG11	HP:0002375	Hypokinesia
440138	ALG11	HP:0003623	Neonatal onset
440138	ALG11	HP:0003642	Type I transferrin isoform profile
440138	ALG11	HP:0001987	Hyperammonemia
440138	ALG11	HP:0001999	Abnormal facial shape
440138	ALG11	HP:0000735	Impaired social interactions
440138	ALG11	HP:0012704	Widened subarachnoid space
440138	ALG11	HP:0009124	Abnormal adipose tissue morphology
440138	ALG11	HP:0012762	Cerebral white matter atrophy
440138	ALG11	HP:0003186	Inverted nipples
440138	ALG11	HP:0003160	Abnormal isoelectric focusing of serum transferrin
440138	ALG11	HP:0008000	Decreased corneal reflex
440138	ALG11	HP:0000958	Dry skin
440138	ALG11	HP:0000278	Retrognathia
440138	ALG11	HP:0000294	Low anterior hairline
440138	ALG11	HP:0000252	Microcephaly
440138	ALG11	HP:0001508	Failure to thrive
440138	ALG11	HP:0002910	Elevated hepatic transaminase
440138	ALG11	HP:0000365	Hearing impairment
440138	ALG11	HP:0000343	Long philtrum
440138	ALG11	HP:0000348	High forehead
440138	ALG11	HP:0011198	EEG with generalized epileptiform discharges
440138	ALG11	HP:0000407	Sensorineural hearing impairment
440138	ALG11	HP:0000486	Strabismus
440138	ALG11	HP:0012448	Delayed myelination
440138	ALG11	HP:0000504	Abnormality of vision
440193	CCDC88C	HP:0001250	Seizure
440193	CCDC88C	HP:0001251	Ataxia
440193	CCDC88C	HP:0001249	Intellectual disability
440193	CCDC88C	HP:0001260	Dysarthria
440193	CCDC88C	HP:0001347	Hyperreflexia
440193	CCDC88C	HP:0000007	Autosomal recessive inheritance
440193	CCDC88C	HP:0001337	Tremor
440193	CCDC88C	HP:0000006	Autosomal dominant inheritance
440193	CCDC88C	HP:0001310	Dysmetria
440193	CCDC88C	HP:0002080	Intention tremor
440193	CCDC88C	HP:0002066	Gait ataxia
440193	CCDC88C	HP:0002075	Dysdiadochokinesis
440193	CCDC88C	HP:0002119	Ventriculomegaly
440193	CCDC88C	HP:0002136	Broad-based gait
440193	CCDC88C	HP:0002168	Scanning speech
440193	CCDC88C	HP:0002167	Abnormality of speech or vocalization
440193	CCDC88C	HP:0003596	Middle age onset
440193	CCDC88C	HP:0003677	Slowly progressive
440193	CCDC88C	HP:0002317	Unsteady gait
440193	CCDC88C	HP:0002313	Spastic paraparesis
440193	CCDC88C	HP:0006879	Pontocerebellar atrophy
440193	CCDC88C	HP:0004302	Functional motor deficit
440193	CCDC88C	HP:0034198	Second trimester onset
440193	CCDC88C	HP:0011448	Ankle clonus
440193	CCDC88C	HP:0000238	Hydrocephalus
440193	CCDC88C	HP:0000511	Vertical supranuclear gaze palsy
440275	EIF2AK4	HP:0025104	Capillary malformation
440275	EIF2AK4	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT
440275	EIF2AK4	HP:0025179	Ground-glass opacification
440275	EIF2AK4	HP:0032230	Cytoplasmic antineutrophil antibody positivity
440275	EIF2AK4	HP:0000007	Autosomal recessive inheritance
440275	EIF2AK4	HP:0012151	Hemothorax
440275	EIF2AK4	HP:0025420	Diffuse alveolar hemorrhage
440275	EIF2AK4	HP:0002716	Lymphadenopathy
440275	EIF2AK4	HP:0005954	Pulmonary capillary hemangiomatosis
440275	EIF2AK4	HP:0002094	Dyspnea
440275	EIF2AK4	HP:0002092	Pulmonary arterial hypertension
440275	EIF2AK4	HP:0030968	Abnormal pulmonary vein morphology
440275	EIF2AK4	HP:0100598	Pulmonary edema
440275	EIF2AK4	HP:0002105	Hemoptysis
440275	EIF2AK4	HP:0003493	Antinuclear antibody positivity
440275	EIF2AK4	HP:0003596	Middle age onset
440275	EIF2AK4	HP:0004890	Elevated pulmonary artery pressure
440275	EIF2AK4	HP:0002202	Pleural effusion
440275	EIF2AK4	HP:0100721	Mediastinal lymphadenopathy
440275	EIF2AK4	HP:0100759	Clubbing of fingers
440275	EIF2AK4	HP:0010741	Pedal edema
440275	EIF2AK4	HP:0003621	Juvenile onset
440275	EIF2AK4	HP:0012735	Cough
440275	EIF2AK4	HP:0011462	Young adult onset
440275	EIF2AK4	HP:0030879	Interlobular septal thickening
440275	EIF2AK4	HP:0045051	Decreased DLCO
440275	EIF2AK4	HP:0000961	Cyanosis
440275	EIF2AK4	HP:0002875	Exertional dyspnea
440275	EIF2AK4	HP:0006518	Pulmonary venous occlusion
440275	EIF2AK4	HP:0001698	Pericardial effusion
440275	EIF2AK4	HP:0001708	Right ventricular failure
440275	EIF2AK4	HP:0012432	Chronic fatigue
440275	EIF2AK4	HP:0012418	Hypoxemia
440435	GPR179	HP:0000007	Autosomal recessive inheritance
440435	GPR179	HP:0007663	Reduced visual acuity
440435	GPR179	HP:0007642	Congenital stationary night blindness
440435	GPR179	HP:0000639	Nystagmus
440435	GPR179	HP:0030469	Abnormal dark-adapted electroretinogram
440435	GPR179	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
440435	GPR179	HP:0000662	Nyctalopia
440435	GPR179	HP:0030639	Congenital stationary night blindness with abnormal fundus
440435	GPR179	HP:0030638	Congenital stationary night blindness with normal fundus
440435	GPR179	HP:0007703	Abnormality of retinal pigmentation
440435	GPR179	HP:0011003	High myopia
440435	GPR179	HP:0030329	Retinal thinning
440435	GPR179	HP:0007984	Electronegative electroretinogram
440435	GPR179	HP:0000486	Strabismus
440435	GPR179	HP:0031705	Compensatory head posture
440435	GPR179	HP:0000505	Visual impairment
440435	GPR179	HP:0000540	Hypermetropia
440435	GPR179	HP:0000551	Color vision defect
440435	GPR179	HP:0000545	Myopia
442721	LMOD2	HP:0003811	Neonatal death
442721	LMOD2	HP:0001342	Cerebral hemorrhage
442721	LMOD2	HP:0000007	Autosomal recessive inheritance
442721	LMOD2	HP:0031295	Left atrial enlargement
442721	LMOD2	HP:0011712	Right bundle branch block
442721	LMOD2	HP:0011701	Multifocal atrial tachycardia
442721	LMOD2	HP:0004751	Paroxysmal ventricular tachycardia
442721	LMOD2	HP:0003577	Congenital onset
442721	LMOD2	HP:0012666	Severely reduced left ventricular ejection fraction
442721	LMOD2	HP:0033008	Increased Z-disc width
442721	LMOD2	HP:0031318	Myofiber disarray
442721	LMOD2	HP:0031333	Myocardial sarcomeric disarray
442721	LMOD2	HP:0005180	Tricuspid regurgitation
442721	LMOD2	HP:0001649	Tachycardia
442721	LMOD2	HP:0001644	Dilated cardiomyopathy
442721	LMOD2	HP:0030149	Cardiogenic shock
442721	LMOD2	HP:0001659	Aortic regurgitation
442721	LMOD2	HP:0001653	Mitral regurgitation
442721	LMOD2	HP:0031676	Monomorphic ventricular tachycardia
442862	PRY2	HP:0000027	Azoospermia
442862	PRY2	HP:0001450	Y-linked inheritance
442862	PRY2	HP:0011462	Young adult onset
442862	PRY2	HP:0003251	Male infertility
493753	COA5	HP:0000007	Autosomal recessive inheritance
493753	COA5	HP:0003577	Congenital onset
493753	COA5	HP:0008347	Decreased activity of mitochondrial complex IV
493753	COA5	HP:0031320	Cardiomyocyte mitochondrial proliferation
493753	COA5	HP:0001639	Hypertrophic cardiomyopathy
493856	CISD2	HP:0001138	Optic neuropathy
493856	CISD2	HP:0001250	Seizure
493856	CISD2	HP:0001251	Ataxia
493856	CISD2	HP:0001249	Intellectual disability
493856	CISD2	HP:0001260	Dysarthria
493856	CISD2	HP:0002592	Gastric ulcer
493856	CISD2	HP:0000079	Abnormality of the urinary system
493856	CISD2	HP:0001387	Joint stiffness
493856	CISD2	HP:0000026	Male hypogonadism
493856	CISD2	HP:0008872	Feeding difficulties in infancy
493856	CISD2	HP:0000011	Neurogenic bladder
493856	CISD2	HP:0000010	Recurrent urinary tract infections
493856	CISD2	HP:0000007	Autosomal recessive inheritance
493856	CISD2	HP:0000135	Hypogonadism
493856	CISD2	HP:0000112	Nephropathy
493856	CISD2	HP:0002024	Malabsorption
493856	CISD2	HP:0002019	Constipation
493856	CISD2	HP:0002093	Respiratory insufficiency
493856	CISD2	HP:0100518	Dysuria
493856	CISD2	HP:0002120	Cerebral cortical atrophy
493856	CISD2	HP:0002239	Gastrointestinal hemorrhage
493856	CISD2	HP:0008320	Impaired collagen-induced platelet aggregation
493856	CISD2	HP:0002360	Sleep disturbance
493856	CISD2	HP:0002376	Developmental regression
493856	CISD2	HP:0009830	Peripheral neuropathy
493856	CISD2	HP:0000639	Nystagmus
493856	CISD2	HP:0000648	Optic atrophy
493856	CISD2	HP:0001959	Polydipsia
493856	CISD2	HP:0000602	Ophthalmoplegia
493856	CISD2	HP:0001903	Anemia
493856	CISD2	HP:0004313	Decreased circulating antibody level
493856	CISD2	HP:0100016	Abnormality of mesentery morphology
493856	CISD2	HP:0000738	Hallucinations
493856	CISD2	HP:0000716	Depression
493856	CISD2	HP:0000726	Dementia
493856	CISD2	HP:0000708	Atypical behavior
493856	CISD2	HP:0000786	Primary amenorrhea
493856	CISD2	HP:0003198	Myopathy
493856	CISD2	HP:0000876	Oligomenorrhea
493856	CISD2	HP:0000873	Diabetes insipidus
493856	CISD2	HP:0000819	Diabetes mellitus
493856	CISD2	HP:0000823	Delayed puberty
493856	CISD2	HP:0002871	Central apnea
493856	CISD2	HP:0012332	Abnormal autonomic nervous system physiology
493856	CISD2	HP:0001638	Cardiomyopathy
493856	CISD2	HP:0000407	Sensorineural hearing impairment
493856	CISD2	HP:0000501	Glaucoma
493856	CISD2	HP:0001892	Abnormal bleeding
494513	PJVK	HP:0000007	Autosomal recessive inheritance
494513	PJVK	HP:0000407	Sensorineural hearing impairment
494551	WEE2	HP:0008669	Abnormal spermatogenesis
494551	WEE2	HP:0000007	Autosomal recessive inheritance
494551	WEE2	HP:0000147	Polycystic ovaries
494551	WEE2	HP:0008222	Female infertility
494551	WEE2	HP:0020155	Abnormal oocyte morphology
494551	WEE2	HP:0011462	Young adult onset
494551	WEE2	HP:0031515	Abnormal meiosis
494551	WEE2	HP:0031516	Oocyte arrest at metaphase I
497661	C18orf32	HP:0001252	Hypotonia
497661	C18orf32	HP:0003819	Death in childhood
497661	C18orf32	HP:0000007	Autosomal recessive inheritance
497661	C18orf32	HP:0002188	Delayed CNS myelination
497661	C18orf32	HP:0003577	Congenital onset
497661	C18orf32	HP:0002208	Coarse hair
497661	C18orf32	HP:0011344	Severe global developmental delay
497661	C18orf32	HP:0004322	Short stature
497661	C18orf32	HP:0003186	Inverted nipples
497661	C18orf32	HP:0003282	Low alkaline phosphatase
497661	C18orf32	HP:0008070	Sparse hair
497661	C18orf32	HP:0006466	Ankle flexion contracture
643226	GRXCR2	HP:0008619	Bilateral sensorineural hearing impairment
643226	GRXCR2	HP:0000007	Autosomal recessive inheritance
643226	GRXCR2	HP:0011463	Childhood onset
643226	GRXCR2	HP:0001751	Abnormal vestibular function
643226	GRXCR2	HP:0000505	Visual impairment
643418	LIPN	HP:0025114	Hypergranulosis
643418	LIPN	HP:0100806	Sepsis
643418	LIPN	HP:0100840	Aplasia/Hypoplasia of the eyebrow
643418	LIPN	HP:0000083	Renal insufficiency
643418	LIPN	HP:0000007	Autosomal recessive inheritance
643418	LIPN	HP:0000164	Abnormality of the dentition
643418	LIPN	HP:0100543	Cognitive impairment
643418	LIPN	HP:0002205	Recurrent respiratory infections
643418	LIPN	HP:0100758	Gangrene
643418	LIPN	HP:0001019	Erythroderma
643418	LIPN	HP:0025092	Epidermal acanthosis
643418	LIPN	HP:0100679	Lack of skin elasticity
643418	LIPN	HP:0010783	Erythema
643418	LIPN	HP:0001944	Dehydration
643418	LIPN	HP:0000656	Ectropion
643418	LIPN	HP:0004322	Short stature
643418	LIPN	HP:0011463	Childhood onset
643418	LIPN	HP:0000989	Pruritus
643418	LIPN	HP:0000958	Dry skin
643418	LIPN	HP:0000962	Hyperkeratosis
643418	LIPN	HP:0040162	Orthokeratosis
643418	LIPN	HP:0008070	Sparse hair
643418	LIPN	HP:0008064	Ichthyosis
643418	LIPN	HP:0001597	Abnormality of the nail
643418	LIPN	HP:0000232	Everted lower lip vermilion
643418	LIPN	HP:0011039	Abnormal helix morphology
643418	LIPN	HP:0000389	Chronic otitis media
644096	SDHAF1	HP:0002474	Expressive language delay
644096	SDHAF1	HP:0007272	Progressive psychomotor deterioration
644096	SDHAF1	HP:0002421	Poor head control
644096	SDHAF1	HP:0003756	Skeletal myopathy
644096	SDHAF1	HP:0003701	Proximal muscle weakness
644096	SDHAF1	HP:0001290	Generalized hypotonia
644096	SDHAF1	HP:0001270	Motor delay
644096	SDHAF1	HP:0001285	Spastic tetraparesis
644096	SDHAF1	HP:0001250	Seizure
644096	SDHAF1	HP:0001251	Ataxia
644096	SDHAF1	HP:0001257	Spasticity
644096	SDHAF1	HP:0007350	Hyperreflexia in upper limbs
644096	SDHAF1	HP:0002510	Spastic tetraplegia
644096	SDHAF1	HP:0002505	Loss of ambulation
644096	SDHAF1	HP:0000076	Vesicoureteral reflux
644096	SDHAF1	HP:0008872	Feeding difficulties in infancy
644096	SDHAF1	HP:0000007	Autosomal recessive inheritance
644096	SDHAF1	HP:0007663	Reduced visual acuity
644096	SDHAF1	HP:0003324	Generalized muscle weakness
644096	SDHAF1	HP:0003388	Easy fatigability
644096	SDHAF1	HP:0003487	Babinski sign
644096	SDHAF1	HP:0002123	Generalized myoclonic seizure
644096	SDHAF1	HP:0003593	Infantile onset
644096	SDHAF1	HP:0003510	Severe short stature
644096	SDHAF1	HP:0003508	Proportionate short stature
644096	SDHAF1	HP:0007083	Hyperactive patellar reflex
644096	SDHAF1	HP:0003693	Distal amyotrophy
644096	SDHAF1	HP:0002359	Frequent falls
644096	SDHAF1	HP:0002376	Developmental regression
644096	SDHAF1	HP:0002352	Leukoencephalopathy
644096	SDHAF1	HP:0002313	Spastic paraparesis
644096	SDHAF1	HP:0002333	Motor deterioration
644096	SDHAF1	HP:0006801	Hyperactive deep tendon reflexes
644096	SDHAF1	HP:0006895	Lower limb hypertonia
644096	SDHAF1	HP:0000639	Nystagmus
644096	SDHAF1	HP:0000618	Blindness
644096	SDHAF1	HP:0011343	Moderate global developmental delay
644096	SDHAF1	HP:0000737	Irritability
644096	SDHAF1	HP:0012708	Reduced brain N-acetyl aspartate level by MRS
644096	SDHAF1	HP:0000726	Dementia
644096	SDHAF1	HP:0012817	Noncompaction cardiomyopathy
644096	SDHAF1	HP:0003202	Skeletal muscle atrophy
644096	SDHAF1	HP:0040196	Mild microcephaly
644096	SDHAF1	HP:0006380	Knee flexion contracture
644096	SDHAF1	HP:0001511	Intrauterine growth retardation
644096	SDHAF1	HP:0001510	Growth delay
644096	SDHAF1	HP:0005150	Abnormal atrioventricular conduction
644096	SDHAF1	HP:0005162	Abnormal left ventricular function
644096	SDHAF1	HP:0001626	Abnormality of the cardiovascular system
644096	SDHAF1	HP:0001639	Hypertrophic cardiomyopathy
644096	SDHAF1	HP:0011166	Focal myoclonic seizure
644096	SDHAF1	HP:0001712	Left ventricular hypertrophy
644096	SDHAF1	HP:0000478	Abnormality of the eye
644096	SDHAF1	HP:0001824	Weight loss
644096	SDHAF1	HP:0000580	Pigmentary retinopathy
644096	SDHAF1	HP:0000544	External ophthalmoplegia
645104	CLRN2	HP:0000007	Autosomal recessive inheritance
645104	CLRN2	HP:0000407	Sensorineural hearing impairment
645104	CLRN2	HP:0001751	Abnormal vestibular function
646960	PRSS56	HP:0000007	Autosomal recessive inheritance
646960	PRSS56	HP:0008499	High hypermetropia
646960	PRSS56	HP:0000646	Amblyopia
646960	PRSS56	HP:0000610	Abnormal choroid morphology
646960	PRSS56	HP:0030823	Scleral thickening
646960	PRSS56	HP:0008052	Retinal fold
646960	PRSS56	HP:0007703	Abnormality of retinal pigmentation
646960	PRSS56	HP:0007906	Ocular hypertension
646960	PRSS56	HP:0000486	Strabismus
646960	PRSS56	HP:0000482	Microcornea
646960	PRSS56	HP:0000501	Glaucoma
646960	PRSS56	HP:0000568	Microphthalmia
653361	NCF1	HP:0001181	Adducted thumb
653361	NCF1	HP:0001136	Retinal arteriolar tortuosity
653361	NCF1	HP:0010880	Increased nuchal translucency
653361	NCF1	HP:0001297	Stroke
653361	NCF1	HP:0100806	Sepsis
653361	NCF1	HP:0100817	Renovascular hypertension
653361	NCF1	HP:0001287	Meningitis
653361	NCF1	HP:0001288	Gait disturbance
653361	NCF1	HP:0001252	Hypotonia
653361	NCF1	HP:0001251	Ataxia
653361	NCF1	HP:0001249	Intellectual disability
653361	NCF1	HP:0001260	Dysarthria
653361	NCF1	HP:0001257	Spasticity
653361	NCF1	HP:0001231	Abnormal fingernail morphology
653361	NCF1	HP:0002575	Tracheoesophageal fistula
653361	NCF1	HP:0007417	Discoid lupus rash
653361	NCF1	HP:0008736	Hypoplasia of penis
653361	NCF1	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
653361	NCF1	HP:0008661	Urethral stenosis
653361	NCF1	HP:0000089	Renal hypoplasia
653361	NCF1	HP:0000083	Renal insufficiency
653361	NCF1	HP:0000093	Proteinuria
653361	NCF1	HP:0000076	Vesicoureteral reflux
653361	NCF1	HP:0000075	Renal duplication
653361	NCF1	HP:0000044	Hypogonadotropic hypogonadism
653361	NCF1	HP:0001388	Joint laxity
653361	NCF1	HP:0001387	Joint stiffness
653361	NCF1	HP:0000023	Inguinal hernia
653361	NCF1	HP:0000015	Bladder diverticulum
653361	NCF1	HP:0000014	Abnormality of the bladder
653361	NCF1	HP:0001347	Hyperreflexia
653361	NCF1	HP:0001361	Nystagmus-induced head nodding
653361	NCF1	HP:0000025	Functional abnormality of male internal genitalia
653361	NCF1	HP:0000028	Cryptorchidism
653361	NCF1	HP:0007495	Prematurely aged appearance
653361	NCF1	HP:0007477	Abnormal dermatoglyphics
653361	NCF1	HP:0000010	Recurrent urinary tract infections
653361	NCF1	HP:0000007	Autosomal recessive inheritance
653361	NCF1	HP:0001337	Tremor
653361	NCF1	HP:0001310	Dysmetria
653361	NCF1	HP:0002637	Cerebral ischemia
653361	NCF1	HP:0002650	Scoliosis
653361	NCF1	HP:0002644	Abnormal pelvic girdle bone morphology
653361	NCF1	HP:0002623	Overriding aorta
653361	NCF1	HP:0000179	Thick lower lip vermilion
653361	NCF1	HP:0000158	Macroglossia
653361	NCF1	HP:0000154	Wide mouth
653361	NCF1	HP:0000147	Polycystic ovaries
653361	NCF1	HP:0000121	Nephrocalcinosis
653361	NCF1	HP:0000125	Pelvic kidney
653361	NCF1	HP:0002754	Osteomyelitis
653361	NCF1	HP:0002740	Recurrent E. coli infections
653361	NCF1	HP:0002741	Recurrent Serratia marcescens infections
653361	NCF1	HP:0002750	Delayed skeletal maturation
653361	NCF1	HP:0002742	Recurrent Klebsiella infections
653361	NCF1	HP:0002716	Lymphadenopathy
653361	NCF1	HP:0002726	Recurrent Staphylococcus aureus infections
653361	NCF1	HP:0002724	Recurrent Aspergillus infections
653361	NCF1	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes
653361	NCF1	HP:0002721	Immunodeficiency
653361	NCF1	HP:0002024	Malabsorption
653361	NCF1	HP:0002021	Pyloric stenosis
653361	NCF1	HP:0002020	Gastroesophageal reflux
653361	NCF1	HP:0002019	Constipation
653361	NCF1	HP:0002017	Nausea and vomiting
653361	NCF1	HP:0002035	Rectal prolapse
653361	NCF1	HP:0002027	Abdominal pain
653361	NCF1	HP:0003312	Abnormal form of the vertebral bodies
653361	NCF1	HP:0003307	Hyperlordosis
653361	NCF1	HP:0005978	Type II diabetes mellitus
653361	NCF1	HP:0100523	Liver abscess
653361	NCF1	HP:0100533	Inflammatory abnormality of the eye
653361	NCF1	HP:0100539	Periorbital edema
653361	NCF1	HP:0100545	Arterial stenosis
653361	NCF1	HP:0002071	Abnormality of extrapyramidal motor function
653361	NCF1	HP:0002141	Gait imbalance
653361	NCF1	HP:0002150	Hypercalciuria
653361	NCF1	HP:0002120	Cerebral cortical atrophy
653361	NCF1	HP:0003422	Vertebral segmentation defect
653361	NCF1	HP:0002183	Phonophobia
653361	NCF1	HP:0002167	Abnormality of speech or vocalization
653361	NCF1	HP:0010526	Dysgraphia
653361	NCF1	HP:0002240	Hepatomegaly
653361	NCF1	HP:0002253	Colonic diverticula
653361	NCF1	HP:0002205	Recurrent respiratory infections
653361	NCF1	HP:0100785	Insomnia
653361	NCF1	HP:0100721	Mediastinal lymphadenopathy
653361	NCF1	HP:0010662	Abnormality of the diencephalon
653361	NCF1	HP:0010669	Hypoplasia of the zygomatic bone
653361	NCF1	HP:0007018	Attention deficit hyperactivity disorder
653361	NCF1	HP:0001052	Nevus flammeus
653361	NCF1	HP:0001034	Hypermelanotic macule
653361	NCF1	HP:0002376	Developmental regression
653361	NCF1	HP:0200021	Down-sloping shoulders
653361	NCF1	HP:0100659	Abnormal cerebral vascular morphology
653361	NCF1	HP:0100658	Cellulitis
653361	NCF1	HP:0010807	Open bite
653361	NCF1	HP:0100613	Death in early adulthood
653361	NCF1	HP:0200042	Skin ulcer
653361	NCF1	HP:0001081	Cholelithiasis
653361	NCF1	HP:0008499	High hypermetropia
653361	NCF1	HP:0010780	Hyperacusis
653361	NCF1	HP:0002308	Chiari malformation
653361	NCF1	HP:0004969	Peripheral pulmonary artery stenosis
653361	NCF1	HP:0003621	Juvenile onset
653361	NCF1	HP:0004209	Clinodactyly of the 5th finger
653361	NCF1	HP:0004295	Abnormal gastric mucosa morphology
653361	NCF1	HP:0005562	Multiple renal cysts
653361	NCF1	HP:0001969	Abnormal tubulointerstitial morphology
653361	NCF1	HP:0000635	Blue irides
653361	NCF1	HP:0000632	Lacrimation abnormality
653361	NCF1	HP:0001945	Fever
653361	NCF1	HP:0000627	Posterior embryotoxon
653361	NCF1	HP:0000682	Abnormal dental enamel morphology
653361	NCF1	HP:0000691	Microdontia
653361	NCF1	HP:0000689	Dental malocclusion
653361	NCF1	HP:0000670	Carious teeth
653361	NCF1	HP:0012639	Abnormal nervous system morphology
653361	NCF1	HP:0000668	Hypodontia
653361	NCF1	HP:0004322	Short stature
653361	NCF1	HP:0004306	Abnormal endocardium morphology
653361	NCF1	HP:0004305	Involuntary movements
653361	NCF1	HP:0003072	Hypercalcemia
653361	NCF1	HP:0004381	Supravalvular aortic stenosis
653361	NCF1	HP:0004398	Peptic ulcer
653361	NCF1	HP:0005692	Joint hyperflexibility
653361	NCF1	HP:0003028	Abnormality of the ankle
653361	NCF1	HP:0100025	Overfriendliness
653361	NCF1	HP:0012733	Macule
653361	NCF1	HP:0000767	Pectus excavatum
653361	NCF1	HP:0000739	Anxiety
653361	NCF1	HP:0000716	Depression
653361	NCF1	HP:0000717	Autism
653361	NCF1	HP:0000722	Compulsive behaviors
653361	NCF1	HP:0000787	Nephrolithiasis
653361	NCF1	HP:0003119	Abnormal circulating lipid concentration
653361	NCF1	HP:0004428	Elfin facies
653361	NCF1	HP:0003198	Myopathy
653361	NCF1	HP:0003196	Short nose
653361	NCF1	HP:0000826	Precocious puberty
653361	NCF1	HP:0000822	Hypertension
653361	NCF1	HP:0000821	Hypothyroidism
653361	NCF1	HP:0003236	Elevated circulating creatine kinase concentration
653361	NCF1	HP:0003206	Decreased activity of NADPH oxidase
653361	NCF1	HP:0003203	Impaired oxidative burst
653361	NCF1	HP:0003298	Spina bifida occulta
653361	NCF1	HP:0000976	Eczematoid dermatitis
653361	NCF1	HP:0000992	Cutaneous photosensitivity
653361	NCF1	HP:0000964	Eczema
653361	NCF1	HP:0000960	Sacral dimple
653361	NCF1	HP:0000939	Osteoporosis
653361	NCF1	HP:0000938	Osteopenia
653361	NCF1	HP:0100240	Synostosis of joints
653361	NCF1	HP:0008053	Aplasia/Hypoplasia of the iris
653361	NCF1	HP:0007720	Flat cornea
653361	NCF1	HP:0000286	Epicanthus
653361	NCF1	HP:0000280	Coarse facial features
653361	NCF1	HP:0000275	Narrow face
653361	NCF1	HP:0005113	Aortic arch aneurysm
653361	NCF1	HP:0002829	Arthralgia
653361	NCF1	HP:0002808	Kyphosis
653361	NCF1	HP:0000252	Microcephaly
653361	NCF1	HP:0001582	Redundant skin
653361	NCF1	HP:0000246	Sinusitis
653361	NCF1	HP:0000212	Gingival overgrowth
653361	NCF1	HP:0000230	Gingivitis
653361	NCF1	HP:0000232	Everted lower lip vermilion
653361	NCF1	HP:0001531	Failure to thrive in infancy
653361	NCF1	HP:0002857	Genu valgum
653361	NCF1	HP:0001537	Umbilical hernia
653361	NCF1	HP:0002840	Lymphadenitis
653361	NCF1	HP:0001513	Obesity
653361	NCF1	HP:0002842	Recurrent Burkholderia cepacia infections
653361	NCF1	HP:0006510	Chronic pulmonary obstruction
653361	NCF1	HP:0000389	Chronic otitis media
653361	NCF1	HP:0000388	Otitis media
653361	NCF1	HP:0005224	Rectal abscess
653361	NCF1	HP:0006532	Recurrent pneumonia
653361	NCF1	HP:0001609	Hoarse voice
653361	NCF1	HP:0001608	Abnormality of the voice
653361	NCF1	HP:0001618	Dysphonia
653361	NCF1	HP:0006482	Abnormality of dental morphology
653361	NCF1	HP:0000368	Low-set, posteriorly rotated ears
653361	NCF1	HP:0001671	Abnormal cardiac septum morphology
653361	NCF1	HP:0000343	Long philtrum
653361	NCF1	HP:0011001	Increased bone mineral density
653361	NCF1	HP:0000337	Broad forehead
653361	NCF1	HP:0002999	Patellar dislocation
653361	NCF1	HP:0000348	High forehead
653361	NCF1	HP:0000347	Micrognathia
653361	NCF1	HP:0001647	Bicuspid aortic valve
653361	NCF1	HP:0001643	Patent ductus arteriosus
653361	NCF1	HP:0001642	Pulmonic stenosis
653361	NCF1	HP:0001645	Sudden cardiac death
653361	NCF1	HP:0002974	Radioulnar synostosis
653361	NCF1	HP:0001658	Myocardial infarction
653361	NCF1	HP:0001653	Mitral regurgitation
653361	NCF1	HP:0001629	Ventricular septal defect
653361	NCF1	HP:0002955	Granulomatosis
653361	NCF1	HP:0001626	Abnormality of the cardiovascular system
653361	NCF1	HP:0001640	Cardiomegaly
653361	NCF1	HP:0001639	Hypertrophic cardiomyopathy
653361	NCF1	HP:0001636	Tetralogy of Fallot
653361	NCF1	HP:0001635	Congestive heart failure
653361	NCF1	HP:0000307	Pointed chin
653361	NCF1	HP:0001631	Atrial septal defect
653361	NCF1	HP:0001634	Mitral valve prolapse
653361	NCF1	HP:0007957	Corneal opacity
653361	NCF1	HP:0005344	Abnormal carotid artery morphology
653361	NCF1	HP:0000407	Sensorineural hearing impairment
653361	NCF1	HP:0000400	Macrotia
653361	NCF1	HP:0000486	Strabismus
653361	NCF1	HP:0000485	Megalocornea
653361	NCF1	HP:0000464	Abnormality of the neck
653361	NCF1	HP:0012433	Abnormal social behavior
653361	NCF1	HP:0001763	Pes planus
653361	NCF1	HP:0000411	Protruding ear
653361	NCF1	HP:0001744	Splenomegaly
653361	NCF1	HP:0000431	Wide nasal bridge
653361	NCF1	HP:0005406	Recurrent bacterial skin infections
653361	NCF1	HP:0000518	Cataract
653361	NCF1	HP:0001822	Hallux valgus
653361	NCF1	HP:0000505	Visual impairment
653361	NCF1	HP:0000501	Glaucoma
653361	NCF1	HP:0001800	Hypoplastic toenails
653361	NCF1	HP:0000581	Blepharophimosis
653361	NCF1	HP:0001874	Abnormality of neutrophils
653361	NCF1	HP:0000545	Myopia
653509	SFTPA1	HP:0025175	Honeycomb lung
653509	SFTPA1	HP:0025179	Ground-glass opacification
653509	SFTPA1	HP:0033584	Nonspecific interstitial pneumonia
653509	SFTPA1	HP:0001217	Clubbing
653509	SFTPA1	HP:0033638	Intralobular septal thickening
653509	SFTPA1	HP:0025390	Reticular pattern on pulmonary HRCT
653509	SFTPA1	HP:0000006	Autosomal dominant inheritance
653509	SFTPA1	HP:0002020	Gastroesophageal reflux
653509	SFTPA1	HP:0002094	Dyspnea
653509	SFTPA1	HP:0002091	Restrictive ventilatory defect
653509	SFTPA1	HP:0010444	Pulmonary insufficiency
653509	SFTPA1	HP:0002110	Bronchiectasis
653509	SFTPA1	HP:0003596	Middle age onset
653509	SFTPA1	HP:0003584	Late onset
653509	SFTPA1	HP:0002206	Pulmonary fibrosis
653509	SFTPA1	HP:0100759	Clubbing of fingers
653509	SFTPA1	HP:0031950	Usual interstitial pneumonia
653509	SFTPA1	HP:0012735	Cough
653509	SFTPA1	HP:0011462	Young adult onset
653509	SFTPA1	HP:0030879	Interlobular septal thickening
653509	SFTPA1	HP:0045051	Decreased DLCO
653509	SFTPA1	HP:0030830	Crackles
653509	SFTPA1	HP:0002875	Exertional dyspnea
653509	SFTPA1	HP:0006530	Abnormal pulmonary interstitial morphology
653509	SFTPA1	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion
653509	SFTPA1	HP:0032987	Elevated bronchoalveolar lavage fluid eosinophil proportion
677814	SNORA31	HP:0000006	Autosomal dominant inheritance
677814	SNORA31	HP:0012302	Herpes simplex encephalitis
724066	ATXN8	HP:0002495	Impaired vibratory sensation
724066	ATXN8	HP:0002464	Spastic dysarthria
724066	ATXN8	HP:0007256	Abnormal pyramidal sign
724066	ATXN8	HP:0001272	Cerebellar atrophy
724066	ATXN8	HP:0001251	Ataxia
724066	ATXN8	HP:0001260	Dysarthria
724066	ATXN8	HP:0001257	Spasticity
724066	ATXN8	HP:0000020	Urinary incontinence
724066	ATXN8	HP:0001347	Hyperreflexia
724066	ATXN8	HP:0001332	Dystonia
724066	ATXN8	HP:0001337	Tremor
724066	ATXN8	HP:0000006	Autosomal dominant inheritance
724066	ATXN8	HP:0012110	Hypoplasia of the pons
724066	ATXN8	HP:0002015	Dysphagia
724066	ATXN8	HP:0002067	Bradykinesia
724066	ATXN8	HP:0002066	Gait ataxia
724066	ATXN8	HP:0002063	Rigidity
724066	ATXN8	HP:0002062	Morphological abnormality of the pyramidal tract
724066	ATXN8	HP:0002073	Progressive cerebellar ataxia
724066	ATXN8	HP:0002070	Limb ataxia
724066	ATXN8	HP:0002172	Postural instability
724066	ATXN8	HP:0002317	Unsteady gait
724066	ATXN8	HP:0009830	Peripheral neuropathy
724066	ATXN8	HP:0002311	Incoordination
724066	ATXN8	HP:0006855	Cerebellar vermis atrophy
724066	ATXN8	HP:0000639	Nystagmus
724066	ATXN8	HP:0000641	Dysmetric saccades
724066	ATXN8	HP:0000802	Impotence
724066	ATXN8	HP:0000763	Sensory neuropathy
724066	ATXN8	HP:0000716	Depression
724066	ATXN8	HP:0000273	Facial grimacing
724066	ATXN8	HP:0007772	Impaired smooth pursuit
724066	ATXN8	HP:0002835	Aspiration
724066	ATXN8	HP:0000514	Slow saccadic eye movements
727676	SNORD118	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
727676	SNORD118	HP:0007256	Abnormal pyramidal sign
727676	SNORD118	HP:0007229	Intracerebral periventricular calcifications
727676	SNORD118	HP:0002415	Leukodystrophy
727676	SNORD118	HP:0007291	Posterior fossa cyst
727676	SNORD118	HP:0001297	Stroke
727676	SNORD118	HP:0001268	Mental deterioration
727676	SNORD118	HP:0001288	Gait disturbance
727676	SNORD118	HP:0001250	Seizure
727676	SNORD118	HP:0001251	Ataxia
727676	SNORD118	HP:0001260	Dysarthria
727676	SNORD118	HP:0001263	Global developmental delay
727676	SNORD118	HP:0001257	Spasticity
727676	SNORD118	HP:0007346	Subcortical white matter calcifications
727676	SNORD118	HP:0002516	Increased intracranial pressure
727676	SNORD118	HP:0002514	Cerebral calcification
727676	SNORD118	HP:0001332	Dystonia
727676	SNORD118	HP:0001342	Cerebral hemorrhage
727676	SNORD118	HP:0000007	Autosomal recessive inheritance
727676	SNORD118	HP:0001337	Tremor
727676	SNORD118	HP:0100543	Cognitive impairment
727676	SNORD118	HP:0002071	Abnormality of extrapyramidal motor function
727676	SNORD118	HP:0002059	Cerebral atrophy
727676	SNORD118	HP:0002135	Basal ganglia calcification
727676	SNORD118	HP:0010576	Intracranial cystic lesion
727676	SNORD118	HP:0003596	Middle age onset
727676	SNORD118	HP:0003593	Infantile onset
727676	SNORD118	HP:0003676	Progressive
727676	SNORD118	HP:0002352	Leukoencephalopathy
727676	SNORD118	HP:0002301	Hemiplegia
727676	SNORD118	HP:0003621	Juvenile onset
727676	SNORD118	HP:0000712	Emotional lability
727676	SNORD118	HP:0000725	Psychotic episodes
727676	SNORD118	HP:0011463	Childhood onset
727676	SNORD118	HP:0011462	Young adult onset
727676	SNORD118	HP:0100320	Rosenthal fibers
727676	SNORD118	HP:0011153	Focal motor seizure
727857	BHLHA9	HP:0001177	Preaxial hand polydactyly
727857	BHLHA9	HP:0001171	Split hand
727857	BHLHA9	HP:0001156	Brachydactyly
727857	BHLHA9	HP:0001162	Postaxial hand polydactyly
727857	BHLHA9	HP:0001159	Syndactyly
727857	BHLHA9	HP:0006101	Finger syndactyly
727857	BHLHA9	HP:0006097	3-4 finger syndactyly
727857	BHLHA9	HP:0001376	Limitation of joint mobility
727857	BHLHA9	HP:0000007	Autosomal recessive inheritance
727857	BHLHA9	HP:0004691	2-3 toe syndactyly
727857	BHLHA9	HP:0010443	Bifid femur
727857	BHLHA9	HP:0010442	Polydactyly
727857	BHLHA9	HP:0009601	Aplasia/Hypoplasia of the thumb
727857	BHLHA9	HP:0002164	Nail dysplasia
727857	BHLHA9	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
727857	BHLHA9	HP:0003577	Congenital onset
727857	BHLHA9	HP:0100797	Toenail dysplasia
727857	BHLHA9	HP:0009701	Metacarpal synostosis
727857	BHLHA9	HP:0008362	Aplasia/Hypoplasia of the hallux
727857	BHLHA9	HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand
727857	BHLHA9	HP:0009773	Symphalangism affecting the phalanges of the hand
727857	BHLHA9	HP:0009778	Short thumb
727857	BHLHA9	HP:0009756	Popliteal pterygium
727857	BHLHA9	HP:0004209	Clinodactyly of the 5th finger
727857	BHLHA9	HP:0010064	Symphalangism affecting the phalanges of the hallux
727857	BHLHA9	HP:0004279	Short palm
727857	BHLHA9	HP:0003038	Fibular hypoplasia
727857	BHLHA9	HP:0012725	Cutaneous syndactyly
727857	BHLHA9	HP:0009177	Proximal/middle symphalangism of 5th finger
727857	BHLHA9	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger
727857	BHLHA9	HP:0010109	Short hallux
727857	BHLHA9	HP:0005772	Aplasia/Hypoplasia of the tibia
727857	BHLHA9	HP:0003097	Short femur
727857	BHLHA9	HP:0100257	Ectrodactyly
727857	BHLHA9	HP:0000954	Single transverse palmar crease
727857	BHLHA9	HP:0006443	Patellar aplasia
727857	BHLHA9	HP:0002823	Abnormality of femur morphology
727857	BHLHA9	HP:0005048	Synostosis of carpal bones
727857	BHLHA9	HP:0001539	Omphalocele
727857	BHLHA9	HP:0012385	Camptodactyly
727857	BHLHA9	HP:0000396	Overfolded helix
727857	BHLHA9	HP:0006495	Aplasia/Hypoplasia of the ulna
727857	BHLHA9	HP:0002980	Femoral bowing
727857	BHLHA9	HP:0002991	Abnormality of fibula morphology
727857	BHLHA9	HP:0004058	Hand monodactyly
727857	BHLHA9	HP:0001792	Small nail
727857	BHLHA9	HP:0001770	Toe syndactyly
727897	MUC5B	HP:0025175	Honeycomb lung
727897	MUC5B	HP:0025179	Ground-glass opacification
727897	MUC5B	HP:0001394	Cirrhosis
727897	MUC5B	HP:0025390	Reticular pattern on pulmonary HRCT
727897	MUC5B	HP:0000006	Autosomal dominant inheritance
727897	MUC5B	HP:0002020	Gastroesophageal reflux
727897	MUC5B	HP:0002094	Dyspnea
727897	MUC5B	HP:0002092	Pulmonary arterial hypertension
727897	MUC5B	HP:0010444	Pulmonary insufficiency
727897	MUC5B	HP:0002110	Bronchiectasis
727897	MUC5B	HP:0002206	Pulmonary fibrosis
727897	MUC5B	HP:0010702	Increased circulating antibody level
727897	MUC5B	HP:0100759	Clubbing of fingers
727897	MUC5B	HP:0031950	Usual interstitial pneumonia
727897	MUC5B	HP:0012735	Cough
727897	MUC5B	HP:0045051	Decreased DLCO
727897	MUC5B	HP:0030830	Crackles
727897	MUC5B	HP:0002875	Exertional dyspnea
727897	MUC5B	HP:0006530	Abnormal pulmonary interstitial morphology
727897	MUC5B	HP:0006519	Alveolar cell carcinoma
727897	MUC5B	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion
728294	D2HGDH	HP:0002416	Subependymal cysts
728294	D2HGDH	HP:0001250	Seizure
728294	D2HGDH	HP:0001252	Hypotonia
728294	D2HGDH	HP:0001249	Intellectual disability
728294	D2HGDH	HP:0001263	Global developmental delay
728294	D2HGDH	HP:0002572	Episodic vomiting
728294	D2HGDH	HP:0002521	Hypsarrhythmia
728294	D2HGDH	HP:0001324	Muscle weakness
728294	D2HGDH	HP:0000007	Autosomal recessive inheritance
728294	D2HGDH	HP:0002007	Frontal bossing
728294	D2HGDH	HP:0002069	Bilateral tonic-clonic seizure
728294	D2HGDH	HP:0002104	Apnea
728294	D2HGDH	HP:0002188	Delayed CNS myelination
728294	D2HGDH	HP:0003593	Infantile onset
728294	D2HGDH	HP:0100704	Cerebral visual impairment
728294	D2HGDH	HP:0007052	Multifocal cerebral white matter abnormalities
728294	D2HGDH	HP:0007105	Infantile encephalopathy
728294	D2HGDH	HP:0006956	Lateral ventricle dilatation
728294	D2HGDH	HP:0003150	Glutaric aciduria
728294	D2HGDH	HP:0000256	Macrocephaly
728294	D2HGDH	HP:0012321	D-2-hydroxyglutaric aciduria
728294	D2HGDH	HP:0032792	Tonic seizure
728294	D2HGDH	HP:0000347	Micrognathia
728294	D2HGDH	HP:0032794	Myoclonic seizure
728294	D2HGDH	HP:0001659	Aortic regurgitation
728294	D2HGDH	HP:0001638	Cardiomyopathy
728294	D2HGDH	HP:0005348	Inspiratory stridor
728294	D2HGDH	HP:0012469	Infantile spasms
728294	D2HGDH	HP:0011220	Prominent forehead
729238	SFTPA2	HP:0025175	Honeycomb lung
729238	SFTPA2	HP:0025179	Ground-glass opacification
729238	SFTPA2	HP:0001394	Cirrhosis
729238	SFTPA2	HP:0025390	Reticular pattern on pulmonary HRCT
729238	SFTPA2	HP:0000006	Autosomal dominant inheritance
729238	SFTPA2	HP:0002020	Gastroesophageal reflux
729238	SFTPA2	HP:0002094	Dyspnea
729238	SFTPA2	HP:0002092	Pulmonary arterial hypertension
729238	SFTPA2	HP:0010444	Pulmonary insufficiency
729238	SFTPA2	HP:0002110	Bronchiectasis
729238	SFTPA2	HP:0002206	Pulmonary fibrosis
729238	SFTPA2	HP:0010702	Increased circulating antibody level
729238	SFTPA2	HP:0100759	Clubbing of fingers
729238	SFTPA2	HP:0031950	Usual interstitial pneumonia
729238	SFTPA2	HP:0012735	Cough
729238	SFTPA2	HP:0045051	Decreased DLCO
729238	SFTPA2	HP:0030830	Crackles
729238	SFTPA2	HP:0002875	Exertional dyspnea
729238	SFTPA2	HP:0006530	Abnormal pulmonary interstitial morphology
729238	SFTPA2	HP:0006519	Alveolar cell carcinoma
729238	SFTPA2	HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion
729920	CRPPA	HP:0001181	Adducted thumb
729920	CRPPA	HP:0003797	Limb-girdle muscle atrophy
729920	CRPPA	HP:0007260	Type II lissencephaly
729920	CRPPA	HP:0008551	Microtia
729920	CRPPA	HP:0007227	Macrogyria
729920	CRPPA	HP:0003741	Congenital muscular dystrophy
729920	CRPPA	HP:0003707	Calf muscle pseudohypertrophy
729920	CRPPA	HP:0001290	Generalized hypotonia
729920	CRPPA	HP:0001272	Cerebellar atrophy
729920	CRPPA	HP:0001274	Agenesis of corpus callosum
729920	CRPPA	HP:0001270	Motor delay
729920	CRPPA	HP:0001284	Areflexia
729920	CRPPA	HP:0001250	Seizure
729920	CRPPA	HP:0001252	Hypotonia
729920	CRPPA	HP:0001249	Intellectual disability
729920	CRPPA	HP:0001265	Hyporeflexia
729920	CRPPA	HP:0001263	Global developmental delay
729920	CRPPA	HP:0008736	Hypoplasia of penis
729920	CRPPA	HP:0032391	Subcortical heterotopia
729920	CRPPA	HP:0007340	Lower limb muscle weakness
729920	CRPPA	HP:0002536	Abnormal cortical gyration
729920	CRPPA	HP:0002505	Loss of ambulation
729920	CRPPA	HP:0002500	Abnormal cerebral white matter morphology
729920	CRPPA	HP:0032341	Reduced forced vital capacity
729920	CRPPA	HP:0003819	Death in childhood
729920	CRPPA	HP:0001349	Facial diplegia
729920	CRPPA	HP:0000028	Cryptorchidism
729920	CRPPA	HP:0001331	Absent septum pellucidum
729920	CRPPA	HP:0001328	Specific learning disability
729920	CRPPA	HP:0001324	Muscle weakness
729920	CRPPA	HP:0001339	Lissencephaly
729920	CRPPA	HP:0001338	Partial agenesis of the corpus callosum
729920	CRPPA	HP:0000007	Autosomal recessive inheritance
729920	CRPPA	HP:0001305	Dandy-Walker malformation
729920	CRPPA	HP:0001302	Pachygyria
729920	CRPPA	HP:0001321	Cerebellar hypoplasia
729920	CRPPA	HP:0001319	Neonatal hypotonia
729920	CRPPA	HP:0000193	Bifid uvula
729920	CRPPA	HP:0000158	Macroglossia
729920	CRPPA	HP:0000176	Submucous cleft hard palate
729920	CRPPA	HP:0000175	Cleft palate
729920	CRPPA	HP:0008994	Proximal muscle weakness in lower limbs
729920	CRPPA	HP:0008997	Proximal muscle weakness in upper limbs
729920	CRPPA	HP:0008981	Calf muscle hypertrophy
729920	CRPPA	HP:0002792	Reduced vital capacity
729920	CRPPA	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
729920	CRPPA	HP:0002751	Kyphoscoliosis
729920	CRPPA	HP:0003325	Limb-girdle muscle weakness
729920	CRPPA	HP:0003326	Myalgia
729920	CRPPA	HP:0002007	Frontal bossing
729920	CRPPA	HP:0003324	Generalized muscle weakness
729920	CRPPA	HP:0002084	Encephalocele
729920	CRPPA	HP:0003394	Muscle spasm
729920	CRPPA	HP:0002079	Hypoplasia of the corpus callosum
729920	CRPPA	HP:0008180	Mildly elevated creatine kinase
729920	CRPPA	HP:0002119	Ventriculomegaly
729920	CRPPA	HP:0002126	Polymicrogyria
729920	CRPPA	HP:0003458	EMG: myopathic abnormalities
729920	CRPPA	HP:0002187	Intellectual disability, profound
729920	CRPPA	HP:0010508	Metatarsus valgus
729920	CRPPA	HP:0002269	Abnormality of neuronal migration
729920	CRPPA	HP:0003560	Muscular dystrophy
729920	CRPPA	HP:0002282	Gray matter heterotopia
729920	CRPPA	HP:0008305	Exercise-induced myoglobinuria
729920	CRPPA	HP:0002365	Hypoplasia of the brainstem
729920	CRPPA	HP:0003691	Scapular winging
729920	CRPPA	HP:0002359	Frequent falls
729920	CRPPA	HP:0002355	Difficulty walking
729920	CRPPA	HP:0002350	Cerebellar cyst
729920	CRPPA	HP:0003677	Slowly progressive
729920	CRPPA	HP:0002334	Abnormal cerebellar vermis morphology
729920	CRPPA	HP:0007126	Proximal amyotrophy
729920	CRPPA	HP:0031882	Agyria
729920	CRPPA	HP:0000648	Optic atrophy
729920	CRPPA	HP:0000612	Iris coloboma
729920	CRPPA	HP:0000609	Optic nerve hypoplasia
729920	CRPPA	HP:0000659	Peters anomaly
729920	CRPPA	HP:0011463	Childhood onset
729920	CRPPA	HP:0011446	Abnormality of higher mental function
729920	CRPPA	HP:0040081	Abnormal circulating creatine kinase concentration
729920	CRPPA	HP:0003236	Elevated circulating creatine kinase concentration
729920	CRPPA	HP:0003202	Skeletal muscle atrophy
729920	CRPPA	HP:0045040	Abnormal lactate dehydrogenase level
729920	CRPPA	HP:0000278	Retrognathia
729920	CRPPA	HP:0000256	Macrocephaly
729920	CRPPA	HP:0007731	Chorioretinal dysplasia
729920	CRPPA	HP:0030099	Reduced muscle fiber alpha dystroglycan
729920	CRPPA	HP:0000238	Hydrocephalus
729920	CRPPA	HP:0000252	Microcephaly
729920	CRPPA	HP:0001558	Decreased fetal movement
729920	CRPPA	HP:0001522	Death in infancy
729920	CRPPA	HP:0030046	Hypoglycosylation of alpha-dystroglycan
729920	CRPPA	HP:0030051	Tip-toe gait
729920	CRPPA	HP:0000358	Posteriorly rotated ears
729920	CRPPA	HP:0000369	Low-set ears
729920	CRPPA	HP:0001626	Abnormality of the cardiovascular system
729920	CRPPA	HP:0007957	Corneal opacity
729920	CRPPA	HP:0007968	Remnants of the hyaloid vascular system
729920	CRPPA	HP:0007973	Retinal dysplasia
729920	CRPPA	HP:0000482	Microcornea
729920	CRPPA	HP:0000478	Abnormality of the eye
729920	CRPPA	HP:0000490	Deeply set eye
729920	CRPPA	HP:0030234	Highly elevated creatine kinase
729920	CRPPA	HP:0001771	Achilles tendon contracture
729920	CRPPA	HP:0012400	Abnormal circulating aldolase concentration
729920	CRPPA	HP:0000411	Protruding ear
729920	CRPPA	HP:0006785	Limb-girdle muscular dystrophy
729920	CRPPA	HP:0000518	Cataract
729920	CRPPA	HP:0000528	Anophthalmia
729920	CRPPA	HP:0000501	Glaucoma
729920	CRPPA	HP:0000587	Abnormal optic nerve morphology
729920	CRPPA	HP:0012548	Fatty replacement of skeletal muscle
729920	CRPPA	HP:0000556	Retinal dystrophy
729920	CRPPA	HP:0000568	Microphthalmia
729920	CRPPA	HP:0000541	Retinal detachment
768206	PRCD	HP:0001249	Intellectual disability
768206	PRCD	HP:0008736	Hypoplasia of penis
768206	PRCD	HP:0001347	Hyperreflexia
768206	PRCD	HP:0000035	Abnormal testis morphology
768206	PRCD	HP:0000007	Autosomal recessive inheritance
768206	PRCD	HP:0000135	Hypogonadism
768206	PRCD	HP:0007675	Progressive night blindness
768206	PRCD	HP:0005978	Type II diabetes mellitus
768206	PRCD	HP:0000639	Nystagmus
768206	PRCD	HP:0000648	Optic atrophy
768206	PRCD	HP:0000618	Blindness
768206	PRCD	HP:0000613	Photophobia
768206	PRCD	HP:0000608	Macular degeneration
768206	PRCD	HP:0000602	Ophthalmoplegia
768206	PRCD	HP:0000842	Hyperinsulinemia
768206	PRCD	HP:0000987	Atypical scarring of skin
768206	PRCD	HP:0008046	Abnormal retinal vascular morphology
768206	PRCD	HP:0007703	Abnormality of retinal pigmentation
768206	PRCD	HP:0007737	Bone spicule pigmentation of the retina
768206	PRCD	HP:0001513	Obesity
768206	PRCD	HP:0007843	Attenuation of retinal blood vessels
768206	PRCD	HP:0000407	Sensorineural hearing impairment
768206	PRCD	HP:0000405	Conductive hearing impairment
768206	PRCD	HP:0000463	Anteverted nares
768206	PRCD	HP:0000431	Wide nasal bridge
768206	PRCD	HP:0000518	Cataract
768206	PRCD	HP:0000510	Rod-cone dystrophy
768206	PRCD	HP:0000512	Abnormal electroretinogram
768206	PRCD	HP:0000505	Visual impairment
768206	PRCD	HP:0000501	Glaucoma
768206	PRCD	HP:0000563	Keratoconus
768206	PRCD	HP:0000550	Undetectable electroretinogram
768206	PRCD	HP:0000543	Optic disc pallor
790955	UQCC3	HP:0002490	Increased CSF lactate
790955	UQCC3	HP:0001252	Hypotonia
790955	UQCC3	HP:0001263	Global developmental delay
790955	UQCC3	HP:0008897	Postnatal growth retardation
790955	UQCC3	HP:0001324	Muscle weakness
790955	UQCC3	HP:0000007	Autosomal recessive inheritance
790955	UQCC3	HP:0002151	Increased serum lactate
790955	UQCC3	HP:0011924	Decreased activity of mitochondrial complex III
790955	UQCC3	HP:0011968	Feeding difficulties
790955	UQCC3	HP:0002360	Sleep disturbance
790955	UQCC3	HP:0007109	Periventricular cysts
790955	UQCC3	HP:0003623	Neonatal onset
790955	UQCC3	HP:0004900	Severe lactic acidosis
790955	UQCC3	HP:0001943	Hypoglycemia
790955	UQCC3	HP:0003128	Lactic acidosis
790955	UQCC3	HP:0032653	Elevated lactate:pyruvate ratio
790955	UQCC3	HP:0000540	Hypermetropia
791114	PWRN1	HP:0001159	Syndactyly
791114	PWRN1	HP:0007328	Impaired pain sensation
791114	PWRN1	HP:0003745	Sporadic
791114	PWRN1	HP:0001290	Generalized hypotonia
791114	PWRN1	HP:0001270	Motor delay
791114	PWRN1	HP:0001250	Seizure
791114	PWRN1	HP:0001249	Intellectual disability
791114	PWRN1	HP:0002591	Polyphagia
791114	PWRN1	HP:0001263	Global developmental delay
791114	PWRN1	HP:0000064	Hypoplastic labia minora
791114	PWRN1	HP:0000060	Clitoral hypoplasia
791114	PWRN1	HP:0000044	Hypogonadotropic hypogonadism
791114	PWRN1	HP:0000046	Small scrotum
791114	PWRN1	HP:0000054	Micropenis
791114	PWRN1	HP:0001385	Hip dysplasia
791114	PWRN1	HP:0000028	Cryptorchidism
791114	PWRN1	HP:0008872	Feeding difficulties in infancy
791114	PWRN1	HP:0007513	Generalized hypopigmentation
791114	PWRN1	HP:0001328	Specific learning disability
791114	PWRN1	HP:0000006	Autosomal dominant inheritance
791114	PWRN1	HP:0002650	Scoliosis
791114	PWRN1	HP:0001319	Neonatal hypotonia
791114	PWRN1	HP:0002791	Hypoventilation
791114	PWRN1	HP:0002714	Downturned corners of mouth
791114	PWRN1	HP:0002033	Poor suck
791114	PWRN1	HP:0005968	Temperature instability
791114	PWRN1	HP:0005978	Type II diabetes mellitus
791114	PWRN1	HP:0030919	Low 5-minute APGAR score
791114	PWRN1	HP:0030918	Low 1-minute APGAR score
791114	PWRN1	HP:0009466	Radial deviation of finger
791114	PWRN1	HP:0002119	Ventriculomegaly
791114	PWRN1	HP:0010535	Sleep apnea
791114	PWRN1	HP:0003577	Congenital onset
791114	PWRN1	HP:0002236	Frontal upsweep of hair
791114	PWRN1	HP:0100716	Self-injurious behavior
791114	PWRN1	HP:0002205	Recurrent respiratory infections
791114	PWRN1	HP:0007010	Poor fine motor coordination
791114	PWRN1	HP:0007015	Poor gross motor coordination
791114	PWRN1	HP:0007018	Attention deficit hyperactivity disorder
791114	PWRN1	HP:0002360	Sleep disturbance
791114	PWRN1	HP:0001010	Hypopigmentation of the skin
791114	PWRN1	HP:0200055	Small hand
791114	PWRN1	HP:0033454	Tube feeding
791114	PWRN1	HP:0031878	Acromicria
791114	PWRN1	HP:0004283	Narrow palm
791114	PWRN1	HP:0005599	Hypopigmentation of hair
791114	PWRN1	HP:0004279	Short palm
791114	PWRN1	HP:0000670	Carious teeth
791114	PWRN1	HP:0004322	Short stature
791114	PWRN1	HP:0012743	Abdominal obesity
791114	PWRN1	HP:0000750	Delayed speech and language development
791114	PWRN1	HP:0000717	Autism
791114	PWRN1	HP:0000709	Psychosis
791114	PWRN1	HP:0011461	Fetal onset
791114	PWRN1	HP:0000789	Infertility
791114	PWRN1	HP:0000786	Primary amenorrhea
791114	PWRN1	HP:0003199	Decreased muscle mass
791114	PWRN1	HP:0000876	Oligomenorrhea
791114	PWRN1	HP:0000846	Adrenal insufficiency
791114	PWRN1	HP:0000842	Hyperinsulinemia
791114	PWRN1	HP:0000826	Precocious puberty
791114	PWRN1	HP:0000824	Decreased response to growth hormone stimulation test
791114	PWRN1	HP:0000823	Delayed puberty
791114	PWRN1	HP:0003241	External genital hypoplasia
791114	PWRN1	HP:0000992	Cutaneous photosensitivity
791114	PWRN1	HP:0000939	Osteoporosis
791114	PWRN1	HP:0000938	Osteopenia
791114	PWRN1	HP:0000268	Dolichocephaly
791114	PWRN1	HP:0007730	Iris hypopigmentation
791114	PWRN1	HP:0030084	Clinodactyly
791114	PWRN1	HP:0002808	Kyphosis
791114	PWRN1	HP:0000219	Thin upper lip vermilion
791114	PWRN1	HP:0001562	Oligohydramnios
791114	PWRN1	HP:0001561	Polyhydramnios
791114	PWRN1	HP:0001558	Decreased fetal movement
791114	PWRN1	HP:0001531	Failure to thrive in infancy
791114	PWRN1	HP:0002857	Genu valgum
791114	PWRN1	HP:0001511	Intrauterine growth retardation
791114	PWRN1	HP:0001513	Obesity
791114	PWRN1	HP:0007874	Almond-shaped palpebral fissure
791114	PWRN1	HP:0000341	Narrow forehead
791114	PWRN1	HP:0001623	Breech presentation
791114	PWRN1	HP:0000486	Strabismus
791114	PWRN1	HP:0001773	Short foot
791114	PWRN1	HP:0000446	Narrow nasal bridge
791114	PWRN1	HP:0000582	Upslanted palpebral fissure
791114	PWRN1	HP:0000565	Esotropia
791114	PWRN1	HP:0000540	Hypermetropia
791114	PWRN1	HP:0000545	Myopia
100033413	SNORD116-1	HP:0001159	Syndactyly
100033413	SNORD116-1	HP:0007328	Impaired pain sensation
100033413	SNORD116-1	HP:0003745	Sporadic
100033413	SNORD116-1	HP:0001290	Generalized hypotonia
100033413	SNORD116-1	HP:0001270	Motor delay
100033413	SNORD116-1	HP:0001250	Seizure
100033413	SNORD116-1	HP:0001249	Intellectual disability
100033413	SNORD116-1	HP:0002591	Polyphagia
100033413	SNORD116-1	HP:0001263	Global developmental delay
100033413	SNORD116-1	HP:0000064	Hypoplastic labia minora
100033413	SNORD116-1	HP:0000060	Clitoral hypoplasia
100033413	SNORD116-1	HP:0000044	Hypogonadotropic hypogonadism
100033413	SNORD116-1	HP:0000046	Small scrotum
100033413	SNORD116-1	HP:0000054	Micropenis
100033413	SNORD116-1	HP:0001385	Hip dysplasia
100033413	SNORD116-1	HP:0000028	Cryptorchidism
100033413	SNORD116-1	HP:0008872	Feeding difficulties in infancy
100033413	SNORD116-1	HP:0007513	Generalized hypopigmentation
100033413	SNORD116-1	HP:0001328	Specific learning disability
100033413	SNORD116-1	HP:0000006	Autosomal dominant inheritance
100033413	SNORD116-1	HP:0002650	Scoliosis
100033413	SNORD116-1	HP:0001319	Neonatal hypotonia
100033413	SNORD116-1	HP:0002791	Hypoventilation
100033413	SNORD116-1	HP:0002714	Downturned corners of mouth
100033413	SNORD116-1	HP:0002033	Poor suck
100033413	SNORD116-1	HP:0005968	Temperature instability
100033413	SNORD116-1	HP:0005978	Type II diabetes mellitus
100033413	SNORD116-1	HP:0030919	Low 5-minute APGAR score
100033413	SNORD116-1	HP:0030918	Low 1-minute APGAR score
100033413	SNORD116-1	HP:0009466	Radial deviation of finger
100033413	SNORD116-1	HP:0002119	Ventriculomegaly
100033413	SNORD116-1	HP:0010535	Sleep apnea
100033413	SNORD116-1	HP:0003577	Congenital onset
100033413	SNORD116-1	HP:0002236	Frontal upsweep of hair
100033413	SNORD116-1	HP:0100716	Self-injurious behavior
100033413	SNORD116-1	HP:0002205	Recurrent respiratory infections
100033413	SNORD116-1	HP:0007010	Poor fine motor coordination
100033413	SNORD116-1	HP:0007015	Poor gross motor coordination
100033413	SNORD116-1	HP:0007018	Attention deficit hyperactivity disorder
100033413	SNORD116-1	HP:0002360	Sleep disturbance
100033413	SNORD116-1	HP:0001010	Hypopigmentation of the skin
100033413	SNORD116-1	HP:0200055	Small hand
100033413	SNORD116-1	HP:0033454	Tube feeding
100033413	SNORD116-1	HP:0031878	Acromicria
100033413	SNORD116-1	HP:0004283	Narrow palm
100033413	SNORD116-1	HP:0005599	Hypopigmentation of hair
100033413	SNORD116-1	HP:0004279	Short palm
100033413	SNORD116-1	HP:0000670	Carious teeth
100033413	SNORD116-1	HP:0004322	Short stature
100033413	SNORD116-1	HP:0012743	Abdominal obesity
100033413	SNORD116-1	HP:0000750	Delayed speech and language development
100033413	SNORD116-1	HP:0000717	Autism
100033413	SNORD116-1	HP:0000709	Psychosis
100033413	SNORD116-1	HP:0011461	Fetal onset
100033413	SNORD116-1	HP:0000789	Infertility
100033413	SNORD116-1	HP:0000786	Primary amenorrhea
100033413	SNORD116-1	HP:0003199	Decreased muscle mass
100033413	SNORD116-1	HP:0000876	Oligomenorrhea
100033413	SNORD116-1	HP:0000846	Adrenal insufficiency
100033413	SNORD116-1	HP:0000842	Hyperinsulinemia
100033413	SNORD116-1	HP:0000826	Precocious puberty
100033413	SNORD116-1	HP:0000824	Decreased response to growth hormone stimulation test
100033413	SNORD116-1	HP:0000823	Delayed puberty
100033413	SNORD116-1	HP:0003241	External genital hypoplasia
100033413	SNORD116-1	HP:0000992	Cutaneous photosensitivity
100033413	SNORD116-1	HP:0000939	Osteoporosis
100033413	SNORD116-1	HP:0000938	Osteopenia
100033413	SNORD116-1	HP:0000268	Dolichocephaly
100033413	SNORD116-1	HP:0007730	Iris hypopigmentation
100033413	SNORD116-1	HP:0030084	Clinodactyly
100033413	SNORD116-1	HP:0002808	Kyphosis
100033413	SNORD116-1	HP:0000219	Thin upper lip vermilion
100033413	SNORD116-1	HP:0001562	Oligohydramnios
100033413	SNORD116-1	HP:0001561	Polyhydramnios
100033413	SNORD116-1	HP:0001558	Decreased fetal movement
100033413	SNORD116-1	HP:0001531	Failure to thrive in infancy
100033413	SNORD116-1	HP:0002857	Genu valgum
100033413	SNORD116-1	HP:0001511	Intrauterine growth retardation
100033413	SNORD116-1	HP:0001513	Obesity
100033413	SNORD116-1	HP:0007874	Almond-shaped palpebral fissure
100033413	SNORD116-1	HP:0000341	Narrow forehead
100033413	SNORD116-1	HP:0001623	Breech presentation
100033413	SNORD116-1	HP:0000486	Strabismus
100033413	SNORD116-1	HP:0001773	Short foot
100033413	SNORD116-1	HP:0000446	Narrow nasal bridge
100033413	SNORD116-1	HP:0000582	Upslanted palpebral fissure
100033413	SNORD116-1	HP:0000565	Esotropia
100033413	SNORD116-1	HP:0000540	Hypermetropia
100033413	SNORD116-1	HP:0000545	Myopia
100128908	CIROP	HP:0012020	Right aortic arch
100128908	CIROP	HP:0000007	Autosomal recessive inheritance
100128908	CIROP	HP:0003577	Congenital onset
100128908	CIROP	HP:0010773	Partial anomalous pulmonary venous return
100128908	CIROP	HP:0004935	Pulmonary artery atresia
100128908	CIROP	HP:0031854	Left Isomerism
100128908	CIROP	HP:0004383	Hypoplastic left heart
100128908	CIROP	HP:0011540	Congenitally corrected transposition of the great arteries
100128908	CIROP	HP:0011590	Double aortic arch
100128908	CIROP	HP:0011565	Common atrium
100128908	CIROP	HP:0011556	Double inlet right ventricle
100128908	CIROP	HP:0011553	Discordant atrioventricular connection
100128908	CIROP	HP:0011640	Single coronary artery origin
100128908	CIROP	HP:0011670	Left superior vena cava draining to coronary sinus
100128908	CIROP	HP:0031348	Dextrotransposition of the great arteries
100128908	CIROP	HP:0001696	Situs inversus totalis
100128908	CIROP	HP:0001674	Complete atrioventricular canal defect
100128908	CIROP	HP:0001680	Coarctation of aorta
100128908	CIROP	HP:0001651	Dextrocardia
100128908	CIROP	HP:0012304	Hypoplastic aortic arch
100128908	CIROP	HP:0001643	Patent ductus arteriosus
100128908	CIROP	HP:0001642	Pulmonic stenosis
100128908	CIROP	HP:0001655	Patent foramen ovale
100128908	CIROP	HP:0001629	Ventricular septal defect
100128908	CIROP	HP:0001631	Atrial septal defect
100128908	CIROP	HP:0001719	Double outlet right ventricle
100128908	CIROP	HP:0031565	Abdominal situs ambiguus
100128908	CIROP	HP:0001750	Single ventricle
100128927	ZBTB42	HP:0010963	Absence of stomach bubble on fetal sonography
100128927	ZBTB42	HP:0000007	Autosomal recessive inheritance
100128927	ZBTB42	HP:0030674	Antenatal onset
100128927	ZBTB42	HP:0000256	Macrocephaly
100128927	ZBTB42	HP:0002803	Congenital contracture
100128927	ZBTB42	HP:0002804	Arthrogryposis multiplex congenita
100128927	ZBTB42	HP:0001561	Polyhydramnios
100128927	ZBTB42	HP:0001558	Decreased fetal movement
100131801	PET100	HP:0002490	Increased CSF lactate
100131801	PET100	HP:0010864	Intellectual disability, severe
100131801	PET100	HP:0002421	Poor head control
100131801	PET100	HP:0002415	Leukodystrophy
100131801	PET100	HP:0001290	Generalized hypotonia
100131801	PET100	HP:0001283	Bulbar palsy
100131801	PET100	HP:0001250	Seizure
100131801	PET100	HP:0001252	Hypotonia
100131801	PET100	HP:0001260	Dysarthria
100131801	PET100	HP:0001263	Global developmental delay
100131801	PET100	HP:0001257	Spasticity
100131801	PET100	HP:0002510	Spastic tetraplegia
100131801	PET100	HP:0003819	Death in childhood
100131801	PET100	HP:0003811	Neonatal death
100131801	PET100	HP:0001347	Hyperreflexia
100131801	PET100	HP:0001332	Dystonia
100131801	PET100	HP:0000007	Autosomal recessive inheritance
100131801	PET100	HP:0001336	Myoclonus
100131801	PET100	HP:0002650	Scoliosis
100131801	PET100	HP:0008972	Decreased activity of mitochondrial respiratory chain
100131801	PET100	HP:0025405	Visual fixation instability
100131801	PET100	HP:0003355	Aminoaciduria
100131801	PET100	HP:0002073	Progressive cerebellar ataxia
100131801	PET100	HP:0008151	Prolonged prothrombin time
100131801	PET100	HP:0002151	Increased serum lactate
100131801	PET100	HP:0002133	Status epilepticus
100131801	PET100	HP:0002104	Apnea
100131801	PET100	HP:0002169	Clonus
100131801	PET100	HP:0010544	Vertical nystagmus
100131801	PET100	HP:0003593	Infantile onset
100131801	PET100	HP:0100704	Cerebral visual impairment
100131801	PET100	HP:0007020	Progressive spastic paraplegia
100131801	PET100	HP:0008347	Decreased activity of mitochondrial complex IV
100131801	PET100	HP:0011968	Feeding difficulties
100131801	PET100	HP:0009830	Peripheral neuropathy
100131801	PET100	HP:0007183	Focal T2 hyperintense basal ganglia lesion
100131801	PET100	HP:0000639	Nystagmus
100131801	PET100	HP:0000648	Optic atrophy
100131801	PET100	HP:0001943	Hypoglycemia
100131801	PET100	HP:0001942	Metabolic acidosis
100131801	PET100	HP:0001941	Acidosis
100131801	PET100	HP:0000602	Ophthalmoplegia
100131801	PET100	HP:0001903	Anemia
100131801	PET100	HP:0001998	Neonatal hypoglycemia
100131801	PET100	HP:0000666	Horizontal nystagmus
100131801	PET100	HP:0003073	Hypoalbuminemia
100131801	PET100	HP:0100022	Abnormality of movement
100131801	PET100	HP:0000712	Emotional lability
100131801	PET100	HP:0011421	Death in adolescence
100131801	PET100	HP:0030746	Intraventricular hemorrhage
100131801	PET100	HP:0003128	Lactic acidosis
100131801	PET100	HP:0003236	Elevated circulating creatine kinase concentration
100131801	PET100	HP:0000998	Hypertrichosis
100131801	PET100	HP:0000252	Microcephaly
100131801	PET100	HP:0001522	Death in infancy
100131801	PET100	HP:0001508	Failure to thrive
100131801	PET100	HP:0001518	Small for gestational age
100131801	PET100	HP:0001511	Intrauterine growth retardation
100131801	PET100	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
100131801	PET100	HP:0000365	Hearing impairment
100131801	PET100	HP:0001629	Ventricular septal defect
100131801	PET100	HP:0001639	Hypertrophic cardiomyopathy
100131801	PET100	HP:0000486	Strabismus
100131801	PET100	HP:0000508	Ptosis
100131801	PET100	HP:0000580	Pigmentary retinopathy
100134444	KCNJ18	HP:0002486	Myotonia
100134444	KCNJ18	HP:0003768	Periodic paralysis
100134444	KCNJ18	HP:0002445	Tetraplegia
100134444	KCNJ18	HP:0003752	Episodic flaccid weakness
100134444	KCNJ18	HP:0001284	Areflexia
100134444	KCNJ18	HP:0001265	Hyporeflexia
100134444	KCNJ18	HP:0007340	Lower limb muscle weakness
100134444	KCNJ18	HP:0031098	Decreased thyroid-stimulating hormone level
100134444	KCNJ18	HP:0000016	Urinary retention
100134444	KCNJ18	HP:0001347	Hyperreflexia
100134444	KCNJ18	HP:0001337	Tremor
100134444	KCNJ18	HP:0000006	Autosomal dominant inheritance
100134444	KCNJ18	HP:0002019	Constipation
100134444	KCNJ18	HP:0003394	Muscle spasm
100134444	KCNJ18	HP:0011706	Second degree atrioventricular block
100134444	KCNJ18	HP:0008180	Mildly elevated creatine kinase
100134444	KCNJ18	HP:0008153	Periodic hypokalemic paresis
100134444	KCNJ18	HP:0011784	Thyrotoxicosis with diffuse goiter
100134444	KCNJ18	HP:0011785	Thyrotoxicosis with toxic multinodular goiter
100134444	KCNJ18	HP:0011786	Thyrotoxicosis with toxic single thyroid nodule
100134444	KCNJ18	HP:0003470	Paralysis
100134444	KCNJ18	HP:0002153	Hyperkalemia
100134444	KCNJ18	HP:0003457	EMG abnormality
100134444	KCNJ18	HP:0008285	Transient hypophosphatemia
100134444	KCNJ18	HP:0003596	Middle age onset
100134444	KCNJ18	HP:0003552	Muscle stiffness
100134444	KCNJ18	HP:0002203	Respiratory paralysis
100134444	KCNJ18	HP:0011998	Postprandial hyperglycemia
100134444	KCNJ18	HP:0003694	Late-onset proximal muscle weakness
100134444	KCNJ18	HP:0100647	Graves disease
100134444	KCNJ18	HP:0001962	Palpitations
100134444	KCNJ18	HP:0009020	Exercise-induced muscle fatigue
100134444	KCNJ18	HP:0004303	Abnormal muscle fiber morphology
100134444	KCNJ18	HP:0012726	Episodic hypokalemia
100134444	KCNJ18	HP:0011462	Young adult onset
100134444	KCNJ18	HP:0003134	Abnormality of peripheral nerve conduction
100134444	KCNJ18	HP:0000853	Goiter
100134444	KCNJ18	HP:0000836	Hyperthyroidism
100134444	KCNJ18	HP:0003201	Rhabdomyolysis
100134444	KCNJ18	HP:0033077	Increased circulating free T4 concentration
100134444	KCNJ18	HP:0000975	Hyperhidrosis
100134444	KCNJ18	HP:0012240	Increased intramyocellular lipid droplets
100134444	KCNJ18	HP:0001513	Obesity
100134444	KCNJ18	HP:0031506	Increased circulating T4 concentration
100134444	KCNJ18	HP:0012364	Decreased urinary potassium
100134444	KCNJ18	HP:0002917	Hypomagnesemia
100134444	KCNJ18	HP:0002900	Hypokalemia
100134444	KCNJ18	HP:0005165	Shortened PR interval
100134444	KCNJ18	HP:0001649	Tachycardia
100134444	KCNJ18	HP:0001663	Ventricular fibrillation
100134444	KCNJ18	HP:0001657	Prolonged QT interval
100134444	KCNJ18	HP:0006670	Impaired myocardial contractility
100134444	KCNJ18	HP:0001824	Weight loss
100134444	KCNJ18	HP:0000597	Ophthalmoparesis
100144748	KLLN	HP:0001156	Brachydactyly
100144748	KLLN	HP:0001250	Seizure
100144748	KLLN	HP:0001251	Ataxia
100144748	KLLN	HP:0001249	Intellectual disability
100144748	KLLN	HP:0001263	Global developmental delay
100144748	KLLN	HP:0008675	Enlarged polycystic ovaries
100144748	KLLN	HP:0002516	Increased intracranial pressure
100144748	KLLN	HP:0012062	Bone cyst
100144748	KLLN	HP:0000077	Abnormality of the kidney
100144748	KLLN	HP:0012032	Lipoma
100144748	KLLN	HP:0000036	Abnormal penis morphology
100144748	KLLN	HP:0007565	Multiple cafe-au-lait spots
100144748	KLLN	HP:0002664	Neoplasm
100144748	KLLN	HP:0002650	Scoliosis
100144748	KLLN	HP:0001317	Abnormal cerebellum morphology
100144748	KLLN	HP:0000158	Macroglossia
100144748	KLLN	HP:0001482	Subcutaneous nodule
100144748	KLLN	HP:0012114	Endometrial carcinoma
100144748	KLLN	HP:0500009	Dysplastic gangliocytoma of the cerebellum
100144748	KLLN	HP:0000130	Abnormality of the uterus
100144748	KLLN	HP:0100543	Cognitive impairment
100144748	KLLN	HP:0100579	Mucosal telangiectasiae
100144748	KLLN	HP:0010566	Hamartoma
100144748	KLLN	HP:0100780	Conjunctival hamartoma
100144748	KLLN	HP:0009720	Adenoma sebaceum
100144748	KLLN	HP:0009726	Renal neoplasm
100144748	KLLN	HP:0010614	Fibroma
100144748	KLLN	HP:0001053	Hypopigmented skin patches
100144748	KLLN	HP:0001048	Cavernous hemangioma
100144748	KLLN	HP:0200034	Papule
100144748	KLLN	HP:0200063	Colorectal polyposis
100144748	KLLN	HP:0005595	Generalized hyperkeratosis
100144748	KLLN	HP:0005584	Renal cell carcinoma
100144748	KLLN	HP:0004322	Short stature
100144748	KLLN	HP:0003002	Breast carcinoma
100144748	KLLN	HP:0004390	Hamartomatous polyposis
100144748	KLLN	HP:0100006	Neoplasm of the central nervous system
100144748	KLLN	HP:0000771	Gynecomastia
100144748	KLLN	HP:0012733	Macule
100144748	KLLN	HP:0012740	Papilloma
100144748	KLLN	HP:0000767	Pectus excavatum
100144748	KLLN	HP:0100031	Neoplasm of the thyroid gland
100144748	KLLN	HP:0000717	Autism
100144748	KLLN	HP:0012844	Trichilemmoma
100144748	KLLN	HP:0000853	Goiter
100144748	KLLN	HP:0000820	Abnormality of the thyroid gland
100144748	KLLN	HP:0000995	Melanocytic nevus
100144748	KLLN	HP:0000982	Palmoplantar keratoderma
100144748	KLLN	HP:0008069	Neoplasm of the skin
100144748	KLLN	HP:0000256	Macrocephaly
100144748	KLLN	HP:0002808	Kyphosis
100144748	KLLN	HP:0000221	Furrowed tongue
100144748	KLLN	HP:0000218	High palate
100144748	KLLN	HP:0002861	Melanoma
100144748	KLLN	HP:0002858	Meningioma
100144748	KLLN	HP:0001508	Failure to thrive
100144748	KLLN	HP:0000365	Hearing impairment
100144748	KLLN	HP:0005374	Cellular immunodeficiency
100144748	KLLN	HP:0006731	Follicular thyroid carcinoma
100144748	KLLN	HP:0000518	Cataract
100144748	KLLN	HP:0000545	Myopia
100147744	RNU7-1	HP:0003774	Stage 5 chronic kidney disease
100147744	RNU7-1	HP:0032263	Increased blood pressure
100147744	RNU7-1	HP:0007256	Abnormal pyramidal sign
100147744	RNU7-1	HP:0002415	Leukodystrophy
100147744	RNU7-1	HP:0001276	Hypertonia
100147744	RNU7-1	HP:0001285	Spastic tetraparesis
100147744	RNU7-1	HP:0001250	Seizure
100147744	RNU7-1	HP:0001264	Spastic diplegia
100147744	RNU7-1	HP:0001263	Global developmental delay
100147744	RNU7-1	HP:0001257	Spasticity
100147744	RNU7-1	HP:0002514	Cerebral calcification
100147744	RNU7-1	HP:0002510	Spastic tetraplegia
100147744	RNU7-1	HP:0000083	Renal insufficiency
100147744	RNU7-1	HP:0000096	Glomerular sclerosis
100147744	RNU7-1	HP:0000093	Proteinuria
100147744	RNU7-1	HP:0001397	Hepatic steatosis
100147744	RNU7-1	HP:0001395	Hepatic fibrosis
100147744	RNU7-1	HP:0001369	Arthritis
100147744	RNU7-1	HP:0000054	Micropenis
100147744	RNU7-1	HP:0001357	Plagiocephaly
100147744	RNU7-1	HP:0001332	Dystonia
100147744	RNU7-1	HP:0000010	Recurrent urinary tract infections
100147744	RNU7-1	HP:0001344	Absent speech
100147744	RNU7-1	HP:0000007	Autosomal recessive inheritance
100147744	RNU7-1	HP:0001337	Tremor
100147744	RNU7-1	HP:0002650	Scoliosis
100147744	RNU7-1	HP:0008936	Axial hypotonia
100147744	RNU7-1	HP:0001433	Hepatosplenomegaly
100147744	RNU7-1	HP:0001409	Portal hypertension
100147744	RNU7-1	HP:0002079	Hypoplasia of the corpus callosum
100147744	RNU7-1	HP:0002071	Abnormality of extrapyramidal motor function
100147744	RNU7-1	HP:0002059	Cerebral atrophy
100147744	RNU7-1	HP:0100578	Lipoatrophy
100147744	RNU7-1	HP:0002139	Arrhinencephaly
100147744	RNU7-1	HP:0002119	Ventriculomegaly
100147744	RNU7-1	HP:0002135	Basal ganglia calcification
100147744	RNU7-1	HP:0002132	Porencephalic cyst
100147744	RNU7-1	HP:0002188	Delayed CNS myelination
100147744	RNU7-1	HP:0002187	Intellectual disability, profound
100147744	RNU7-1	HP:0011834	Moyamoya phenomenon
100147744	RNU7-1	HP:0004719	Hyperechogenic kidneys
100147744	RNU7-1	HP:0004722	Thickened glomerular basement membrane
100147744	RNU7-1	HP:0002240	Hepatomegaly
100147744	RNU7-1	HP:0003552	Muscle stiffness
100147744	RNU7-1	HP:0009709	Increased CSF interferon alpha
100147744	RNU7-1	HP:0009710	Chilblains
100147744	RNU7-1	HP:0009704	Chronic CSF lymphocytosis
100147744	RNU7-1	HP:0011968	Feeding difficulties
100147744	RNU7-1	HP:0004809	Neonatal alloimmune thrombocytopenia
100147744	RNU7-1	HP:0007076	Extrapyramidal muscular rigidity
100147744	RNU7-1	HP:0007052	Multifocal cerebral white matter abnormalities
100147744	RNU7-1	HP:0001063	Acrocyanosis
100147744	RNU7-1	HP:0002360	Sleep disturbance
100147744	RNU7-1	HP:0001029	Poikiloderma
100147744	RNU7-1	HP:0002376	Developmental regression
100147744	RNU7-1	HP:0002371	Loss of speech
100147744	RNU7-1	HP:0002355	Difficulty walking
100147744	RNU7-1	HP:0002315	Headache
100147744	RNU7-1	HP:0002313	Spastic paraparesis
100147744	RNU7-1	HP:0009830	Peripheral neuropathy
100147744	RNU7-1	HP:0100614	Myositis
100147744	RNU7-1	HP:0001087	Developmental glaucoma
100147744	RNU7-1	HP:0007108	Demyelinating peripheral neuropathy
100147744	RNU7-1	HP:0004963	Calcification of the aorta
100147744	RNU7-1	HP:0004942	Aortic aneurysm
100147744	RNU7-1	HP:0005550	Chronic lymphatic leukemia
100147744	RNU7-1	HP:0006895	Lower limb hypertonia
100147744	RNU7-1	HP:0000639	Nystagmus
100147744	RNU7-1	HP:0000648	Optic atrophy
100147744	RNU7-1	HP:0001955	Unexplained fevers
100147744	RNU7-1	HP:0000625	Eyelid coloboma
100147744	RNU7-1	HP:0001903	Anemia
100147744	RNU7-1	HP:0004322	Short stature
100147744	RNU7-1	HP:0006994	Diffuse leukoencephalopathy
100147744	RNU7-1	HP:0006956	Lateral ventricle dilatation
100147744	RNU7-1	HP:0003073	Hypoalbuminemia
100147744	RNU7-1	HP:0004374	Hemiplegia/hemiparesis
100147744	RNU7-1	HP:0000763	Sensory neuropathy
100147744	RNU7-1	HP:0000737	Irritability
100147744	RNU7-1	HP:0000750	Delayed speech and language development
100147744	RNU7-1	HP:0000742	Self-mutilation
100147744	RNU7-1	HP:0000819	Diabetes mellitus
100147744	RNU7-1	HP:0000822	Hypertension
100147744	RNU7-1	HP:0000821	Hypothyroidism
100147744	RNU7-1	HP:0030880	Raynaud phenomenon
100147744	RNU7-1	HP:0000958	Dry skin
100147744	RNU7-1	HP:0000969	Edema
100147744	RNU7-1	HP:0000965	Cutis marmorata
100147744	RNU7-1	HP:0000939	Osteoporosis
100147744	RNU7-1	HP:0040140	Degeneration of the striatum
100147744	RNU7-1	HP:0002828	Multiple joint contractures
100147744	RNU7-1	HP:0000252	Microcephaly
100147744	RNU7-1	HP:0001541	Ascites
100147744	RNU7-1	HP:0030038	Enchondroma
100147744	RNU7-1	HP:0001508	Failure to thrive
100147744	RNU7-1	HP:0001511	Intrauterine growth retardation
100147744	RNU7-1	HP:0006579	Prolonged neonatal jaundice
100147744	RNU7-1	HP:0001609	Hoarse voice
100147744	RNU7-1	HP:0002910	Elevated hepatic transaminase
100147744	RNU7-1	HP:0001698	Pericardial effusion
100147744	RNU7-1	HP:0000369	Low-set ears
100147744	RNU7-1	HP:0002960	Autoimmunity
100147744	RNU7-1	HP:0001640	Cardiomegaly
100147744	RNU7-1	HP:0001639	Hypertrophic cardiomyopathy
100147744	RNU7-1	HP:0012490	Panniculitis
100147744	RNU7-1	HP:0001735	Acute pancreatitis
100147744	RNU7-1	HP:0001701	Pericarditis
100147744	RNU7-1	HP:0001712	Left ventricular hypertrophy
100147744	RNU7-1	HP:0000496	Abnormality of eye movement
100147744	RNU7-1	HP:0012444	Brain atrophy
100147744	RNU7-1	HP:0000444	Convex nasal ridge
100147744	RNU7-1	HP:0001824	Weight loss
100147744	RNU7-1	HP:0000508	Ptosis
100147744	RNU7-1	HP:0000501	Glaucoma
100147744	RNU7-1	HP:0030356	Increased circulating interferon-gamma concentration
100147744	RNU7-1	HP:0000533	Chorioretinal atrophy
100147744	RNU7-1	HP:0001878	Hemolytic anemia
100151683	RNU4ATAC	HP:0001176	Large hands
100151683	RNU4ATAC	HP:0001156	Brachydactyly
100151683	RNU4ATAC	HP:0001167	Abnormal finger morphology
100151683	RNU4ATAC	HP:0010935	Abnormality of the upper urinary tract
100151683	RNU4ATAC	HP:0410170	Hippocampal atrophy
100151683	RNU4ATAC	HP:0009912	Abnormal tragus morphology
100151683	RNU4ATAC	HP:0008551	Microtia
100151683	RNU4ATAC	HP:0001290	Generalized hypotonia
100151683	RNU4ATAC	HP:0001276	Hypertonia
100151683	RNU4ATAC	HP:0001274	Agenesis of corpus callosum
100151683	RNU4ATAC	HP:0001256	Intellectual disability, mild
100151683	RNU4ATAC	HP:0001250	Seizure
100151683	RNU4ATAC	HP:0001252	Hypotonia
100151683	RNU4ATAC	HP:0001249	Intellectual disability
100151683	RNU4ATAC	HP:0001263	Global developmental delay
100151683	RNU4ATAC	HP:0001257	Spasticity
100151683	RNU4ATAC	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
100151683	RNU4ATAC	HP:0007333	Hypoplasia of the frontal lobes
100151683	RNU4ATAC	HP:0002536	Abnormal cortical gyration
100151683	RNU4ATAC	HP:0003865	Bowed humerus
100151683	RNU4ATAC	HP:0003826	Stillbirth
100151683	RNU4ATAC	HP:0032327	Interhemispheric cyst
100151683	RNU4ATAC	HP:0003819	Death in childhood
100151683	RNU4ATAC	HP:0008804	Broad femoral head
100151683	RNU4ATAC	HP:0000089	Renal hypoplasia
100151683	RNU4ATAC	HP:0000077	Abnormality of the kidney
100151683	RNU4ATAC	HP:0000079	Abnormality of the urinary system
100151683	RNU4ATAC	HP:0000072	Hydroureter
100151683	RNU4ATAC	HP:0000044	Hypogonadotropic hypogonadism
100151683	RNU4ATAC	HP:0001377	Limited elbow extension
100151683	RNU4ATAC	HP:0001371	Flexion contracture
100151683	RNU4ATAC	HP:0000054	Micropenis
100151683	RNU4ATAC	HP:0001387	Joint stiffness
100151683	RNU4ATAC	HP:0000028	Cryptorchidism
100151683	RNU4ATAC	HP:0008897	Postnatal growth retardation
100151683	RNU4ATAC	HP:0008850	Severe postnatal growth retardation
100151683	RNU4ATAC	HP:0008828	Delayed proximal femoral epiphyseal ossification
100151683	RNU4ATAC	HP:0012095	Multiple joint dislocation
100151683	RNU4ATAC	HP:0008818	Large iliac wing
100151683	RNU4ATAC	HP:0002663	Delayed epiphyseal ossification
100151683	RNU4ATAC	HP:0001328	Specific learning disability
100151683	RNU4ATAC	HP:0002656	Epiphyseal dysplasia
100151683	RNU4ATAC	HP:0002654	Multiple epiphyseal dysplasia
100151683	RNU4ATAC	HP:0002655	Spondyloepiphyseal dysplasia
100151683	RNU4ATAC	HP:0001338	Partial agenesis of the corpus callosum
100151683	RNU4ATAC	HP:0000007	Autosomal recessive inheritance
100151683	RNU4ATAC	HP:0001302	Pachygyria
100151683	RNU4ATAC	HP:0001320	Cerebellar vermis hypoplasia
100151683	RNU4ATAC	HP:0000193	Bifid uvula
100151683	RNU4ATAC	HP:0000176	Submucous cleft hard palate
100151683	RNU4ATAC	HP:0000175	Cleft palate
100151683	RNU4ATAC	HP:0007598	Bilateral single transverse palmar creases
100151683	RNU4ATAC	HP:0000113	Polycystic kidney dysplasia
100151683	RNU4ATAC	HP:0000126	Hydronephrosis
100151683	RNU4ATAC	HP:0000107	Renal cyst
100151683	RNU4ATAC	HP:0001433	Hepatosplenomegaly
100151683	RNU4ATAC	HP:0002750	Delayed skeletal maturation
100151683	RNU4ATAC	HP:0002748	Rickets
100151683	RNU4ATAC	HP:0002749	Osteomalacia
100151683	RNU4ATAC	HP:0002716	Lymphadenopathy
100151683	RNU4ATAC	HP:0002714	Downturned corners of mouth
100151683	RNU4ATAC	HP:0002020	Gastroesophageal reflux
100151683	RNU4ATAC	HP:0003312	Abnormal form of the vertebral bodies
100151683	RNU4ATAC	HP:0004616	Cleft vertebral arch
100151683	RNU4ATAC	HP:0003301	Irregular vertebral endplates
100151683	RNU4ATAC	HP:0004625	Biconvex vertebral bodies
100151683	RNU4ATAC	HP:0100530	Abnormal calcium-phosphate regulating hormone level
100151683	RNU4ATAC	HP:0002094	Dyspnea
100151683	RNU4ATAC	HP:0002093	Respiratory insufficiency
100151683	RNU4ATAC	HP:0002091	Restrictive ventilatory defect
100151683	RNU4ATAC	HP:0002063	Rigidity
100151683	RNU4ATAC	HP:0002079	Hypoplasia of the corpus callosum
100151683	RNU4ATAC	HP:0010443	Bifid femur
100151683	RNU4ATAC	HP:0100569	Abnormally ossified vertebrae
100151683	RNU4ATAC	HP:0005930	Abnormal epiphysis morphology
100151683	RNU4ATAC	HP:0005916	Abnormal metacarpal morphology
100151683	RNU4ATAC	HP:0002121	Generalized non-motor (absence) seizure
100151683	RNU4ATAC	HP:0002133	Status epilepticus
100151683	RNU4ATAC	HP:0002126	Polymicrogyria
100151683	RNU4ATAC	HP:0011927	Short digit
100151683	RNU4ATAC	HP:0009616	Bifid first metacarpal
100151683	RNU4ATAC	HP:0003498	Disproportionate short stature
100151683	RNU4ATAC	HP:0010585	Small epiphyses
100151683	RNU4ATAC	HP:0010582	Irregular epiphyses
100151683	RNU4ATAC	HP:0003593	Infantile onset
100151683	RNU4ATAC	HP:0003577	Congenital onset
100151683	RNU4ATAC	HP:0002240	Hepatomegaly
100151683	RNU4ATAC	HP:0100702	Arachnoid cyst
100151683	RNU4ATAC	HP:0003552	Muscle stiffness
100151683	RNU4ATAC	HP:0002213	Fine hair
100151683	RNU4ATAC	HP:0002209	Sparse scalp hair
100151683	RNU4ATAC	HP:0002282	Gray matter heterotopia
100151683	RNU4ATAC	HP:0011968	Feeding difficulties
100151683	RNU4ATAC	HP:0003510	Severe short stature
100151683	RNU4ATAC	HP:0002344	Progressive neurologic deterioration
100151683	RNU4ATAC	HP:0002342	Intellectual disability, moderate
100151683	RNU4ATAC	HP:0002335	Agenesis of cerebellar vermis
100151683	RNU4ATAC	HP:0100643	Abnormality of nail color
100151683	RNU4ATAC	HP:0009826	Limb undergrowth
100151683	RNU4ATAC	HP:0009832	Abnormal distal phalanx morphology of finger
100151683	RNU4ATAC	HP:0009836	Broad distal phalanx of finger
100151683	RNU4ATAC	HP:0009778	Short thumb
100151683	RNU4ATAC	HP:0007185	Loss of consciousness
100151683	RNU4ATAC	HP:0006872	Cerebral hypoplasia
100151683	RNU4ATAC	HP:0004209	Clinodactyly of the 5th finger
100151683	RNU4ATAC	HP:0004279	Short palm
100151683	RNU4ATAC	HP:0000639	Nystagmus
100151683	RNU4ATAC	HP:0000637	Long palpebral fissure
100151683	RNU4ATAC	HP:0001954	Recurrent fever
100151683	RNU4ATAC	HP:0010049	Short metacarpal
100151683	RNU4ATAC	HP:0000662	Nyctalopia
100151683	RNU4ATAC	HP:0000653	Sparse eyelashes
100151683	RNU4ATAC	HP:0004322	Short stature
100151683	RNU4ATAC	HP:0006956	Lateral ventricle dilatation
100151683	RNU4ATAC	HP:0004313	Decreased circulating antibody level
100151683	RNU4ATAC	HP:0005613	Aplasia/hypoplasia of the femur
100151683	RNU4ATAC	HP:0030674	Antenatal onset
100151683	RNU4ATAC	HP:0003083	Dislocated radial head
100151683	RNU4ATAC	HP:0003051	Enlarged metaphyses
100151683	RNU4ATAC	HP:0003044	Shoulder flexion contracture
100151683	RNU4ATAC	HP:0003042	Elbow dislocation
100151683	RNU4ATAC	HP:0011457	Loss of eyelashes
100151683	RNU4ATAC	HP:0000924	Abnormality of the skeletal system
100151683	RNU4ATAC	HP:0000926	Platyspondyly
100151683	RNU4ATAC	HP:0003177	Squared iliac bones
100151683	RNU4ATAC	HP:0003172	Abnormality of the pubic bone
100151683	RNU4ATAC	HP:0003189	Long nose
100151683	RNU4ATAC	HP:0003182	Shallow acetabular fossae
100151683	RNU4ATAC	HP:0005792	Short humerus
100151683	RNU4ATAC	HP:0000878	11 pairs of ribs
100151683	RNU4ATAC	HP:0000890	Long clavicles
100151683	RNU4ATAC	HP:0012817	Noncompaction cardiomyopathy
100151683	RNU4ATAC	HP:0003097	Short femur
100151683	RNU4ATAC	HP:0000822	Hypertension
100151683	RNU4ATAC	HP:0045028	Microlissencephaly
100151683	RNU4ATAC	HP:0003273	Hip contracture
100151683	RNU4ATAC	HP:0045075	Sparse eyebrow
100151683	RNU4ATAC	HP:0045074	Thin eyebrow
100151683	RNU4ATAC	HP:0100258	Preaxial polydactyly
100151683	RNU4ATAC	HP:0011623	Muscular ventricular septal defect
100151683	RNU4ATAC	HP:0000958	Dry skin
100151683	RNU4ATAC	HP:0000954	Single transverse palmar crease
100151683	RNU4ATAC	HP:0000964	Eczema
100151683	RNU4ATAC	HP:0000962	Hyperkeratosis
100151683	RNU4ATAC	HP:0000939	Osteoporosis
100151683	RNU4ATAC	HP:0000938	Osteopenia
100151683	RNU4ATAC	HP:0000946	Hypoplastic ilia
100151683	RNU4ATAC	HP:0000944	Abnormal metaphysis morphology
100151683	RNU4ATAC	HP:0008070	Sparse hair
100151683	RNU4ATAC	HP:0007703	Abnormality of retinal pigmentation
100151683	RNU4ATAC	HP:0000278	Retrognathia
100151683	RNU4ATAC	HP:0001596	Alopecia
100151683	RNU4ATAC	HP:0000272	Malar flattening
100151683	RNU4ATAC	HP:0000268	Dolichocephaly
100151683	RNU4ATAC	HP:0000269	Prominent occiput
100151683	RNU4ATAC	HP:0005108	Abnormal intervertebral disk morphology
100151683	RNU4ATAC	HP:0006400	Absent knee epiphyses
100151683	RNU4ATAC	HP:0002812	Coxa vara
100151683	RNU4ATAC	HP:0002829	Arthralgia
100151683	RNU4ATAC	HP:0002827	Hip dislocation
100151683	RNU4ATAC	HP:0006380	Knee flexion contracture
100151683	RNU4ATAC	HP:0005041	Irregular capital femoral epiphysis
100151683	RNU4ATAC	HP:0006361	Irregular femoral epiphysis
100151683	RNU4ATAC	HP:0000238	Hydrocephalus
100151683	RNU4ATAC	HP:0000237	Small anterior fontanelle
100151683	RNU4ATAC	HP:0000252	Microcephaly
100151683	RNU4ATAC	HP:0000219	Thin upper lip vermilion
100151683	RNU4ATAC	HP:0002878	Respiratory failure
100151683	RNU4ATAC	HP:0001562	Oligohydramnios
100151683	RNU4ATAC	HP:0001522	Death in infancy
100151683	RNU4ATAC	HP:0001508	Failure to thrive
100151683	RNU4ATAC	HP:0030048	Colpocephaly
100151683	RNU4ATAC	HP:0001518	Small for gestational age
100151683	RNU4ATAC	HP:0001511	Intrauterine growth retardation
100151683	RNU4ATAC	HP:0011097	Epileptic spasm
100151683	RNU4ATAC	HP:0006579	Prolonged neonatal jaundice
100151683	RNU4ATAC	HP:0006532	Recurrent pneumonia
100151683	RNU4ATAC	HP:0002904	Hyperbilirubinemia
100151683	RNU4ATAC	HP:0006487	Bowing of the long bones
100151683	RNU4ATAC	HP:0000358	Posteriorly rotated ears
100151683	RNU4ATAC	HP:0000369	Low-set ears
100151683	RNU4ATAC	HP:0000340	Sloping forehead
100151683	RNU4ATAC	HP:0000343	Long philtrum
100151683	RNU4ATAC	HP:0002999	Patellar dislocation
100151683	RNU4ATAC	HP:0001680	Coarctation of aorta
100151683	RNU4ATAC	HP:0000347	Micrognathia
100151683	RNU4ATAC	HP:0002983	Micromelia
100151683	RNU4ATAC	HP:0002980	Femoral bowing
100151683	RNU4ATAC	HP:0000316	Hypertelorism
100151683	RNU4ATAC	HP:0000311	Round face
100151683	RNU4ATAC	HP:0000331	Short chin
100151683	RNU4ATAC	HP:0002987	Elbow flexion contracture
100151683	RNU4ATAC	HP:0000322	Short philtrum
100151683	RNU4ATAC	HP:0001655	Patent foramen ovale
100151683	RNU4ATAC	HP:0001629	Ventricular septal defect
100151683	RNU4ATAC	HP:0001623	Breech presentation
100151683	RNU4ATAC	HP:0001622	Premature birth
100151683	RNU4ATAC	HP:0001636	Tetralogy of Fallot
100151683	RNU4ATAC	HP:0001631	Atrial septal defect
100151683	RNU4ATAC	HP:0006660	Aplastic clavicle
100151683	RNU4ATAC	HP:0007994	Peripheral visual field loss
100151683	RNU4ATAC	HP:0000403	Recurrent otitis media
100151683	RNU4ATAC	HP:0000483	Astigmatism
100151683	RNU4ATAC	HP:0012471	Thick vermilion border
100151683	RNU4ATAC	HP:0000494	Downslanted palpebral fissures
100151683	RNU4ATAC	HP:0001795	Hyperconvex nail
100151683	RNU4ATAC	HP:0000463	Anteverted nares
100151683	RNU4ATAC	HP:0000460	Narrow nose
100151683	RNU4ATAC	HP:0000474	Thickened nuchal skin fold
100151683	RNU4ATAC	HP:0000470	Short neck
100151683	RNU4ATAC	HP:0001773	Short foot
100151683	RNU4ATAC	HP:0000448	Prominent nose
100151683	RNU4ATAC	HP:0000446	Narrow nasal bridge
100151683	RNU4ATAC	HP:0000414	Bulbous nose
100151683	RNU4ATAC	HP:0001744	Splenomegaly
100151683	RNU4ATAC	HP:0000430	Underdeveloped nasal alae
100151683	RNU4ATAC	HP:0005419	Decreased T cell activation
100151683	RNU4ATAC	HP:0005487	Prominent metopic ridge
100151683	RNU4ATAC	HP:0000520	Proptosis
100151683	RNU4ATAC	HP:0001833	Long foot
100151683	RNU4ATAC	HP:0000505	Visual impairment
100151683	RNU4ATAC	HP:0000501	Glaucoma
100151683	RNU4ATAC	HP:0001831	Short toe
100151683	RNU4ATAC	HP:0000580	Pigmentary retinopathy
100151683	RNU4ATAC	HP:0011231	Prominent eyelashes
100151683	RNU4ATAC	HP:0000556	Retinal dystrophy
100151683	RNU4ATAC	HP:0001880	Eosinophilia
100288687	DUX4	HP:0003307	Hyperlordosis
100288687	DUX4	HP:0100540	Palpebral edema
100288687	DUX4	HP:0003457	EMG abnormality
100288687	DUX4	HP:0030680	Abnormality of cardiovascular system morphology
100288687	DUX4	HP:0003236	Elevated circulating creatine kinase concentration
100288687	DUX4	HP:0003202	Skeletal muscle atrophy
100288687	DUX4	HP:0008046	Abnormal retinal vascular morphology
100288687	DUX4	HP:0000298	Mask-like facies
100288687	DUX4	HP:0000499	Abnormal eyelash morphology
100288687	DUX4	HP:0000407	Sensorineural hearing impairment
100303755	PET117	HP:0002490	Increased CSF lactate
100303755	PET117	HP:0001270	Motor delay
100303755	PET117	HP:0500233	Increased CSF alanine concentration
100303755	PET117	HP:0000007	Autosomal recessive inheritance
100303755	PET117	HP:0002067	Bradykinesia
100303755	PET117	HP:0003487	Babinski sign
100303755	PET117	HP:0002154	Hyperglycinemia
100303755	PET117	HP:0002151	Increased serum lactate
100303755	PET117	HP:0002243	Protein-losing enteropathy
100303755	PET117	HP:0002205	Recurrent respiratory infections
100303755	PET117	HP:0008347	Decreased activity of mitochondrial complex IV
100303755	PET117	HP:0002375	Hypokinesia
100303755	PET117	HP:0002376	Developmental regression
100303755	PET117	HP:0003648	Lacticaciduria
100303755	PET117	HP:0003621	Juvenile onset
100303755	PET117	HP:0011463	Childhood onset
100303755	PET117	HP:0040014	Increased mitochondrial number
100506658	OCLN	HP:0001250	Seizure
100506658	OCLN	HP:0001252	Hypotonia
100506658	OCLN	HP:0001263	Global developmental delay
100506658	OCLN	HP:0001257	Spasticity
100506658	OCLN	HP:0002514	Cerebral calcification
100506658	OCLN	HP:0000083	Renal insufficiency
100506658	OCLN	HP:0001347	Hyperreflexia
100506658	OCLN	HP:0001332	Dystonia
100506658	OCLN	HP:0001339	Lissencephaly
100506658	OCLN	HP:0000007	Autosomal recessive inheritance
100506658	OCLN	HP:0001302	Pachygyria
100506658	OCLN	HP:0001321	Cerebellar hypoplasia
100506658	OCLN	HP:0410030	Cleft lip
100506658	OCLN	HP:0008936	Axial hypotonia
100506658	OCLN	HP:0001410	Decreased liver function
100506658	OCLN	HP:0002120	Cerebral cortical atrophy
100506658	OCLN	HP:0002119	Ventriculomegaly
100506658	OCLN	HP:0002126	Polymicrogyria
100506658	OCLN	HP:0002187	Intellectual disability, profound
100506658	OCLN	HP:0003593	Infantile onset
100506658	OCLN	HP:0002240	Hepatomegaly
100506658	OCLN	HP:0003623	Neonatal onset
100506658	OCLN	HP:0000639	Nystagmus
100506658	OCLN	HP:0100022	Abnormality of movement
100506658	OCLN	HP:0000952	Jaundice
100506658	OCLN	HP:0000967	Petechiae
100506658	OCLN	HP:0007759	Opacification of the corneal stroma
100506658	OCLN	HP:0000252	Microcephaly
100506658	OCLN	HP:0000218	High palate
100506658	OCLN	HP:0001537	Umbilical hernia
100506658	OCLN	HP:0001508	Failure to thrive
100506658	OCLN	HP:0002910	Elevated hepatic transaminase
100506658	OCLN	HP:0002922	Increased CSF protein concentration
100506658	OCLN	HP:0000369	Low-set ears
100506658	OCLN	HP:0000340	Sloping forehead
100506658	OCLN	HP:0000343	Long philtrum
100506658	OCLN	HP:0001643	Patent ductus arteriosus
100506658	OCLN	HP:0001655	Patent foramen ovale
100506658	OCLN	HP:0000308	Microretrognathia
100506658	OCLN	HP:0000463	Anteverted nares
100506658	OCLN	HP:0001744	Splenomegaly
100506658	OCLN	HP:0000518	Cataract
100506658	OCLN	HP:0001873	Thrombocytopenia
100996717	NOTCH2NLC	HP:0002415	Leukodystrophy
100996717	NOTCH2NLC	HP:0003700	Generalized amyotrophy
100996717	NOTCH2NLC	HP:0001276	Hypertonia
100996717	NOTCH2NLC	HP:0001272	Cerebellar atrophy
100996717	NOTCH2NLC	HP:0001288	Gait disturbance
100996717	NOTCH2NLC	HP:0001284	Areflexia
100996717	NOTCH2NLC	HP:0001279	Syncope
100996717	NOTCH2NLC	HP:0001250	Seizure
100996717	NOTCH2NLC	HP:0001251	Ataxia
100996717	NOTCH2NLC	HP:0001265	Hyporeflexia
100996717	NOTCH2NLC	HP:0001260	Dysarthria
100996717	NOTCH2NLC	HP:0002572	Episodic vomiting
100996717	NOTCH2NLC	HP:0008756	Bowing of the vocal cords
100996717	NOTCH2NLC	HP:0002505	Loss of ambulation
100996717	NOTCH2NLC	HP:0003805	Rimmed vacuoles
100996717	NOTCH2NLC	HP:0000020	Urinary incontinence
100996717	NOTCH2NLC	HP:0001347	Hyperreflexia
100996717	NOTCH2NLC	HP:0031162	Impaired oropharyngeal swallow response
100996717	NOTCH2NLC	HP:0001324	Muscle weakness
100996717	NOTCH2NLC	HP:0001337	Tremor
100996717	NOTCH2NLC	HP:0000006	Autosomal dominant inheritance
100996717	NOTCH2NLC	HP:0002650	Scoliosis
100996717	NOTCH2NLC	HP:0000183	Difficulty in tongue movements
100996717	NOTCH2NLC	HP:0008997	Proximal muscle weakness in upper limbs
100996717	NOTCH2NLC	HP:0008959	Distal upper limb muscle weakness
100996717	NOTCH2NLC	HP:0008963	Tibialis muscle weakness
100996717	NOTCH2NLC	HP:0008944	Distal lower limb amyotrophy
100996717	NOTCH2NLC	HP:0002705	High, narrow palate
100996717	NOTCH2NLC	HP:0031237	Internally nucleated skeletal muscle fibers
100996717	NOTCH2NLC	HP:0002747	Respiratory insufficiency due to muscle weakness
100996717	NOTCH2NLC	HP:0002015	Dysphagia
100996717	NOTCH2NLC	HP:0003312	Abnormal form of the vertebral bodies
100996717	NOTCH2NLC	HP:0100543	Cognitive impairment
100996717	NOTCH2NLC	HP:0002091	Restrictive ventilatory defect
100996717	NOTCH2NLC	HP:0002063	Rigidity
100996717	NOTCH2NLC	HP:0002058	Myopathic facies
100996717	NOTCH2NLC	HP:0100515	Pollakisuria
100996717	NOTCH2NLC	HP:0003474	Somatic sensory dysfunction
100996717	NOTCH2NLC	HP:0002119	Ventriculomegaly
100996717	NOTCH2NLC	HP:0003448	Decreased sensory nerve conduction velocity
100996717	NOTCH2NLC	HP:0003457	EMG abnormality
100996717	NOTCH2NLC	HP:0002100	Recurrent aspiration pneumonia
100996717	NOTCH2NLC	HP:0003431	Decreased motor nerve conduction velocity
100996717	NOTCH2NLC	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
100996717	NOTCH2NLC	HP:0002167	Abnormality of speech or vocalization
100996717	NOTCH2NLC	HP:0002174	Postural tremor
100996717	NOTCH2NLC	HP:0010550	Paraplegia
100996717	NOTCH2NLC	HP:0003596	Middle age onset
100996717	NOTCH2NLC	HP:0003593	Infantile onset
100996717	NOTCH2NLC	HP:0003557	Increased variability in muscle fiber diameter
100996717	NOTCH2NLC	HP:0200136	Oral-pharyngeal dysphagia
100996717	NOTCH2NLC	HP:0008376	Nasal, dysarthic speech
100996717	NOTCH2NLC	HP:0430015	Abnormal morphology of musculature of pharynx
100996717	NOTCH2NLC	HP:0003693	Distal amyotrophy
100996717	NOTCH2NLC	HP:0003690	Limb muscle weakness
100996717	NOTCH2NLC	HP:0002355	Difficulty walking
100996717	NOTCH2NLC	HP:0002353	EEG abnormality
100996717	NOTCH2NLC	HP:0002352	Leukoencephalopathy
100996717	NOTCH2NLC	HP:0002346	Head tremor
100996717	NOTCH2NLC	HP:0007149	Distal upper limb amyotrophy
100996717	NOTCH2NLC	HP:0007185	Loss of consciousness
100996717	NOTCH2NLC	HP:0009073	Progressive proximal muscle weakness
100996717	NOTCH2NLC	HP:0000639	Nystagmus
100996717	NOTCH2NLC	HP:0000648	Optic atrophy
100996717	NOTCH2NLC	HP:0000616	Miosis
100996717	NOTCH2NLC	HP:0000613	Photophobia
100996717	NOTCH2NLC	HP:0000602	Ophthalmoplegia
100996717	NOTCH2NLC	HP:0000600	Abnormality of the pharynx
100996717	NOTCH2NLC	HP:0009063	Progressive distal muscle weakness
100996717	NOTCH2NLC	HP:0009053	Distal lower limb muscle weakness
100996717	NOTCH2NLC	HP:0009027	Foot dorsiflexor weakness
100996717	NOTCH2NLC	HP:0100022	Abnormality of movement
100996717	NOTCH2NLC	HP:0000726	Dementia
100996717	NOTCH2NLC	HP:0000708	Atypical behavior
100996717	NOTCH2NLC	HP:0011462	Young adult onset
100996717	NOTCH2NLC	HP:0003236	Elevated circulating creatine kinase concentration
100996717	NOTCH2NLC	HP:0003298	Spina bifida occulta
100996717	NOTCH2NLC	HP:0100297	Increased endomysial connective tissue
100996717	NOTCH2NLC	HP:0012229	CSF pleocytosis
100996717	NOTCH2NLC	HP:0000218	High palate
100996717	NOTCH2NLC	HP:0007838	Progressive ptosis
100996717	NOTCH2NLC	HP:0030186	Kinetic tremor
100996717	NOTCH2NLC	HP:0001604	Vocal cord paresis
100996717	NOTCH2NLC	HP:0030192	Fatigable weakness of bulbar muscles
100996717	NOTCH2NLC	HP:0002922	Increased CSF protein concentration
100996717	NOTCH2NLC	HP:0000301	Abnormality of facial musculature
100996717	NOTCH2NLC	HP:0030319	Weakness of facial musculature
100996717	NOTCH2NLC	HP:0012477	Vocal tremor
100996717	NOTCH2NLC	HP:3000010	Abnormality of orbicularis oris muscle
100996717	NOTCH2NLC	HP:0000408	Progressive sensorineural hearing impairment
100996717	NOTCH2NLC	HP:3000005	Abnormality of masseter muscle
100996717	NOTCH2NLC	HP:0000407	Sensorineural hearing impairment
100996717	NOTCH2NLC	HP:0000405	Conductive hearing impairment
100996717	NOTCH2NLC	HP:0000467	Neck muscle weakness
100996717	NOTCH2NLC	HP:0001824	Weight loss
100996717	NOTCH2NLC	HP:0000508	Ptosis
100996717	NOTCH2NLC	HP:0000597	Ophthalmoparesis
100996717	NOTCH2NLC	HP:0000580	Pigmentary retinopathy
100996717	NOTCH2NLC	HP:0000590	Progressive external ophthalmoplegia
101060691	NUTM2B-AS1	HP:0002460	Distal muscle weakness
101060691	NUTM2B-AS1	HP:0003701	Proximal muscle weakness
101060691	NUTM2B-AS1	HP:0001251	Ataxia
101060691	NUTM2B-AS1	HP:0002579	Gastrointestinal dysmotility
101060691	NUTM2B-AS1	HP:0001260	Dysarthria
101060691	NUTM2B-AS1	HP:0001337	Tremor
101060691	NUTM2B-AS1	HP:0000006	Autosomal dominant inheritance
101060691	NUTM2B-AS1	HP:0002015	Dysphagia
101060691	NUTM2B-AS1	HP:0002059	Cerebral atrophy
101060691	NUTM2B-AS1	HP:0003581	Adult onset
101060691	NUTM2B-AS1	HP:0002878	Respiratory failure
101060691	NUTM2B-AS1	HP:0030319	Weakness of facial musculature
101060691	NUTM2B-AS1	HP:0000508	Ptosis
101060691	NUTM2B-AS1	HP:0000544	External ophthalmoplegia
101101692	HELLPAR	HP:0007430	Generalized edema
101101692	HELLPAR	HP:0000093	Proteinuria
101101692	HELLPAR	HP:0001342	Cerebral hemorrhage
101101692	HELLPAR	HP:0002615	Hypotension
101101692	HELLPAR	HP:0025435	Increased circulating lactate dehydrogenase concentration
101101692	HELLPAR	HP:0410019	Epigastric pain
101101692	HELLPAR	HP:0002018	Nausea
101101692	HELLPAR	HP:0002027	Abdominal pain
101101692	HELLPAR	HP:0002013	Vomiting
101101692	HELLPAR	HP:0100598	Pulmonary edema
101101692	HELLPAR	HP:0008151	Prolonged prothrombin time
101101692	HELLPAR	HP:0003418	Back pain
101101692	HELLPAR	HP:0011900	Hypofibrinogenemia
101101692	HELLPAR	HP:0002202	Pleural effusion
101101692	HELLPAR	HP:0001058	Poor wound healing
101101692	HELLPAR	HP:0002315	Headache
101101692	HELLPAR	HP:0100601	Eclampsia
101101692	HELLPAR	HP:0100602	Preeclampsia
101101692	HELLPAR	HP:0003641	Hemoglobinuria
101101692	HELLPAR	HP:0005521	Disseminated intravascular coagulation
101101692	HELLPAR	HP:0001937	Microangiopathic hemolytic anemia
101101692	HELLPAR	HP:0001919	Acute kidney injury
101101692	HELLPAR	HP:0004324	Increased body weight
101101692	HELLPAR	HP:0011419	Placental abruption
101101692	HELLPAR	HP:0030834	Shoulder pain
101101692	HELLPAR	HP:0008071	Maternal hypertension
101101692	HELLPAR	HP:0025547	Decreased mean corpuscular hemoglobin concentration
101101692	HELLPAR	HP:0012378	Fatigue
101101692	HELLPAR	HP:0011029	Internal hemorrhage
101101692	HELLPAR	HP:0002910	Elevated hepatic transaminase
101101692	HELLPAR	HP:0001878	Hemolytic anemia
101101692	HELLPAR	HP:0001873	Thrombocytopenia
101928376	IL12A-AS1	HP:0007256	Abnormal pyramidal sign
101928376	IL12A-AS1	HP:0010885	Avascular necrosis
101928376	IL12A-AS1	HP:0100820	Glomerulopathy
101928376	IL12A-AS1	HP:0001269	Hemiparesis
101928376	IL12A-AS1	HP:0001287	Meningitis
101928376	IL12A-AS1	HP:0001289	Confusion
101928376	IL12A-AS1	HP:0001288	Gait disturbance
101928376	IL12A-AS1	HP:0001250	Seizure
101928376	IL12A-AS1	HP:0001251	Ataxia
101928376	IL12A-AS1	HP:0002516	Increased intracranial pressure
101928376	IL12A-AS1	HP:0000083	Renal insufficiency
101928376	IL12A-AS1	HP:0001369	Arthritis
101928376	IL12A-AS1	HP:0001347	Hyperreflexia
101928376	IL12A-AS1	HP:0002637	Cerebral ischemia
101928376	IL12A-AS1	HP:0002633	Vasculitis
101928376	IL12A-AS1	HP:0000155	Oral ulcer
101928376	IL12A-AS1	HP:0001482	Subcutaneous nodule
101928376	IL12A-AS1	HP:0002716	Lymphadenopathy
101928376	IL12A-AS1	HP:0002024	Malabsorption
101928376	IL12A-AS1	HP:0002017	Nausea and vomiting
101928376	IL12A-AS1	HP:0002027	Abdominal pain
101928376	IL12A-AS1	HP:0003326	Myalgia
101928376	IL12A-AS1	HP:0002076	Migraine
101928376	IL12A-AS1	HP:0002039	Anorexia
101928376	IL12A-AS1	HP:0100584	Endocarditis
101928376	IL12A-AS1	HP:0002102	Pleuritis
101928376	IL12A-AS1	HP:0002113	Pulmonary infiltrates
101928376	IL12A-AS1	HP:0002105	Hemoptysis
101928376	IL12A-AS1	HP:0003401	Paresthesia
101928376	IL12A-AS1	HP:0002239	Gastrointestinal hemorrhage
101928376	IL12A-AS1	HP:0002202	Pleural effusion
101928376	IL12A-AS1	HP:0002204	Pulmonary embolism
101928376	IL12A-AS1	HP:0100796	Orchitis
101928376	IL12A-AS1	HP:0100758	Gangrene
101928376	IL12A-AS1	HP:0002383	Infectious encephalitis
101928376	IL12A-AS1	HP:0001061	Acne
101928376	IL12A-AS1	HP:0002376	Developmental regression
101928376	IL12A-AS1	HP:0002354	Memory impairment
101928376	IL12A-AS1	HP:0002321	Vertigo
101928376	IL12A-AS1	HP:0100653	Optic neuritis
101928376	IL12A-AS1	HP:0100654	Retrobulbar optic neuritis
101928376	IL12A-AS1	HP:0200034	Papule
101928376	IL12A-AS1	HP:0001097	Keratoconjunctivitis sicca
101928376	IL12A-AS1	HP:0100614	Myositis
101928376	IL12A-AS1	HP:0004936	Venous thrombosis
101928376	IL12A-AS1	HP:0006824	Cranial nerve paralysis
101928376	IL12A-AS1	HP:0000618	Blindness
101928376	IL12A-AS1	HP:0000613	Photophobia
101928376	IL12A-AS1	HP:0001945	Fever
101928376	IL12A-AS1	HP:0012649	Increased inflammatory response
101928376	IL12A-AS1	HP:0000737	Irritability
101928376	IL12A-AS1	HP:0000708	Atypical behavior
101928376	IL12A-AS1	HP:0004420	Arterial thrombosis
101928376	IL12A-AS1	HP:0100326	Immunologic hypersensitivity
101928376	IL12A-AS1	HP:0008066	Abnormal blistering of the skin
101928376	IL12A-AS1	HP:0002829	Arthralgia
101928376	IL12A-AS1	HP:0012378	Fatigue
101928376	IL12A-AS1	HP:0001658	Myocardial infarction
101928376	IL12A-AS1	HP:0001659	Aortic regurgitation
101928376	IL12A-AS1	HP:0001653	Mitral regurgitation
101928376	IL12A-AS1	HP:0001637	Abnormal myocardium morphology
101928376	IL12A-AS1	HP:0001733	Pancreatitis
101928376	IL12A-AS1	HP:0001701	Pericarditis
101928376	IL12A-AS1	HP:0000488	Retinopathy
101928376	IL12A-AS1	HP:0011107	Recurrent aphthous stomatitis
101928376	IL12A-AS1	HP:0001744	Splenomegaly
101928376	IL12A-AS1	HP:0000518	Cataract
101928376	IL12A-AS1	HP:0001824	Weight loss
101929726	MYMX	HP:0001156	Brachydactyly
101929726	MYMX	HP:0001252	Hypotonia
101929726	MYMX	HP:0001249	Intellectual disability
101929726	MYMX	HP:0007360	Aplasia/Hypoplasia of the cerebellum
101929726	MYMX	HP:0002514	Cerebral calcification
101929726	MYMX	HP:0001324	Muscle weakness
101929726	MYMX	HP:0000007	Autosomal recessive inheritance
101929726	MYMX	HP:0002650	Scoliosis
101929726	MYMX	HP:0000162	Glossoptosis
101929726	MYMX	HP:0000175	Cleft palate
101929726	MYMX	HP:0002705	High, narrow palate
101929726	MYMX	HP:0000126	Hydronephrosis
101929726	MYMX	HP:0002714	Downturned corners of mouth
101929726	MYMX	HP:0003327	Axial muscle weakness
101929726	MYMX	HP:0011805	Abnormal skeletal muscle morphology
101929726	MYMX	HP:0009465	Ulnar deviation of finger
101929726	MYMX	HP:0002119	Ventriculomegaly
101929726	MYMX	HP:0003593	Infantile onset
101929726	MYMX	HP:0100735	Hypertensive crisis
101929726	MYMX	HP:0010628	Facial palsy
101929726	MYMX	HP:0009751	Aplasia of the pectoralis major muscle
101929726	MYMX	HP:0006824	Cranial nerve paralysis
101929726	MYMX	HP:0000634	Impaired ocular abduction
101929726	MYMX	HP:0000678	Dental crowding
101929726	MYMX	HP:0004322	Short stature
101929726	MYMX	HP:0000807	Glandular hypospadias
101929726	MYMX	HP:0003198	Myopathy
101929726	MYMX	HP:0003196	Short nose
101929726	MYMX	HP:0010295	Aplasia/Hypoplasia of the tongue
101929726	MYMX	HP:0003202	Skeletal muscle atrophy
101929726	MYMX	HP:0030822	Hooded upper eyelid
101929726	MYMX	HP:0008081	Pes valgus
101929726	MYMX	HP:0000286	Epicanthus
101929726	MYMX	HP:0000252	Microcephaly
101929726	MYMX	HP:0000220	Velopharyngeal insufficiency
101929726	MYMX	HP:0000219	Thin upper lip vermilion
101929726	MYMX	HP:0000218	High palate
101929726	MYMX	HP:0000233	Thin vermilion border
101929726	MYMX	HP:0000201	Pierre-Robin sequence
101929726	MYMX	HP:0001508	Failure to thrive
101929726	MYMX	HP:0001510	Growth delay
101929726	MYMX	HP:0011094	Increased overbite
101929726	MYMX	HP:0001602	Laryngeal stenosis
101929726	MYMX	HP:0001600	Abnormality of the larynx
101929726	MYMX	HP:0000358	Posteriorly rotated ears
101929726	MYMX	HP:0000369	Low-set ears
101929726	MYMX	HP:0000343	Long philtrum
101929726	MYMX	HP:0000338	Hypomimic face
101929726	MYMX	HP:0000347	Micrognathia
101929726	MYMX	HP:0030319	Weakness of facial musculature
101929726	MYMX	HP:0000494	Downslanted palpebral fissures
101929726	MYMX	HP:0000463	Anteverted nares
101929726	MYMX	HP:0000419	Abnormal nasal septum morphology
101929726	MYMX	HP:0000411	Protruding ear
101929726	MYMX	HP:0001762	Talipes equinovarus
101929726	MYMX	HP:0000430	Underdeveloped nasal alae
101929726	MYMX	HP:0001761	Pes cavus
101929726	MYMX	HP:0000508	Ptosis
105259599	-	HP:0001159	Syndactyly
105259599	-	HP:0010957	Congenital posterior urethral valve
105259599	-	HP:0003745	Sporadic
105259599	-	HP:0001263	Global developmental delay
105259599	-	HP:0000076	Vesicoureteral reflux
105259599	-	HP:0000069	Abnormality of the ureter
105259599	-	HP:0000047	Hypospadias
105259599	-	HP:0000028	Cryptorchidism
105259599	-	HP:0002667	Nephroblastoma
105259599	-	HP:0000006	Autosomal dominant inheritance
105259599	-	HP:0001305	Dandy-Walker malformation
105259599	-	HP:0000158	Macroglossia
105259599	-	HP:0000150	Gonadoblastoma
105259599	-	HP:0006277	Pancreatic hyperplasia
105259599	-	HP:0000121	Nephrocalcinosis
105259599	-	HP:0001428	Somatic mutation
105259599	-	HP:0000105	Enlarged kidney
105259599	-	HP:0001402	Hepatocellular carcinoma
105259599	-	HP:0002750	Delayed skeletal maturation
105259599	-	HP:0002714	Downturned corners of mouth
105259599	-	HP:0002007	Frontal bossing
105259599	-	HP:0011800	Midface retrusion
105259599	-	HP:0008186	Adrenocortical cytomegaly
105259599	-	HP:0010481	Urethral valve
105259599	-	HP:0002240	Hepatomegaly
105259599	-	HP:0001052	Nevus flammeus
105259599	-	HP:0008523	Posterior helix pit
105259599	-	HP:0100617	Testicular seminoma
105259599	-	HP:0032165	Placental mesenchymal dysplasia
105259599	-	HP:0004209	Clinodactyly of the 5th finger
105259599	-	HP:0004220	Short middle phalanx of the 5th finger
105259599	-	HP:0004227	Short distal phalanx of the 5th finger
105259599	-	HP:0001998	Neonatal hypoglycemia
105259599	-	HP:0005616	Accelerated skeletal maturation
105259599	-	HP:0000803	Renal cortical cysts
105259599	-	HP:0000787	Nephrolithiasis
105259599	-	HP:0003162	Fasting hypoglycemia
105259599	-	HP:0000824	Decreased response to growth hormone stimulation test
105259599	-	HP:0003247	Overgrowth of external genitalia
105259599	-	HP:0000957	Cafe-au-lait spot
105259599	-	HP:0000280	Coarse facial features
105259599	-	HP:0000270	Delayed cranial suture closure
105259599	-	HP:0000269	Prominent occiput
105259599	-	HP:0030062	Craniopharyngioma
105259599	-	HP:0000240	Abnormality of skull size
105259599	-	HP:0000239	Large fontanelles
105259599	-	HP:0002884	Hepatoblastoma
105259599	-	HP:0001548	Overgrowth
105259599	-	HP:0001528	Hemihypertrophy
105259599	-	HP:0001540	Diastasis recti
105259599	-	HP:0001539	Omphalocele
105259599	-	HP:0001518	Small for gestational age
105259599	-	HP:0001511	Intrauterine growth retardation
105259599	-	HP:0000347	Micrognathia
105259599	-	HP:0000325	Triangular face
105259599	-	HP:0001626	Abnormality of the cardiovascular system
105259599	-	HP:0001640	Cardiomegaly
105259599	-	HP:0001638	Cardiomyopathy
105259599	-	HP:0001760	Abnormal foot morphology
105259599	-	HP:0006744	Adrenocortical carcinoma
105259599	-	HP:0005487	Prominent metopic ridge
105259599	-	HP:0005461	Craniofacial disproportion
105259599	-	HP:0000520	Proptosis
105259599	-	HP:0000592	Blue sclerae
105371045	PERCC1	HP:0025129	Abnormal small intestinal mucosa morphology
105371045	PERCC1	HP:0002570	Steatorrhea
105371045	PERCC1	HP:0001369	Arthritis
105371045	PERCC1	HP:0032486	Elevated fecal osmolality
105371045	PERCC1	HP:0000007	Autosomal recessive inheritance
105371045	PERCC1	HP:0002652	Skeletal dysplasia
105371045	PERCC1	HP:0002611	Cholestatic liver disease
105371045	PERCC1	HP:0002023	Anal atresia
105371045	PERCC1	HP:0002024	Malabsorption
105371045	PERCC1	HP:0002028	Chronic diarrhea
105371045	PERCC1	HP:0002014	Diarrhea
105371045	PERCC1	HP:0002013	Vomiting
105371045	PERCC1	HP:0011859	Punctate keratitis
105371045	PERCC1	HP:0200020	Corneal erosion
105371045	PERCC1	HP:0025090	Abnormal large intestinal mucosa morphology
105371045	PERCC1	HP:0000613	Photophobia
105371045	PERCC1	HP:0001944	Dehydration
105371045	PERCC1	HP:0000737	Irritability
105371045	PERCC1	HP:0011473	Villous atrophy
105371045	PERCC1	HP:0003270	Abdominal distention
105371045	PERCC1	HP:0000951	Abnormality of the skin
105371045	PERCC1	HP:0000202	Orofacial cleft
105371045	PERCC1	HP:0001508	Failure to thrive
105371045	PERCC1	HP:0005208	Secretory diarrhea
105371045	PERCC1	HP:0000453	Choanal atresia
105371045	PERCC1	HP:0000518	Cataract
105371045	PERCC1	HP:0001824	Weight loss
105371045	PERCC1	HP:0000588	Optic disc coloboma
109580095	-	HP:0011906	Reduced beta/alpha synthesis ratio
109580095	-	HP:0004840	Hypochromic microcytic anemia
111365204	-	HP:0001135	Chorioretinal dystrophy
111365204	-	HP:0000006	Autosomal dominant inheritance
111365204	-	HP:0007663	Reduced visual acuity
111365204	-	HP:0007641	Dyschromatopsia
111365204	-	HP:0200070	Peripheral retinal atrophy
111365204	-	HP:0000639	Nystagmus
111365204	-	HP:0000603	Central scotoma
111365204	-	HP:0011510	Drusen
111365204	-	HP:0008002	Abnormality of macular pigmentation
111365204	-	HP:0007754	Macular dystrophy
111365204	-	HP:0000505	Visual impairment
111365204	-	HP:0000541	Retinal detachment
111365204	-	HP:0000533	Chorioretinal atrophy
111365204	-	HP:0000545	Myopia
120766137	HRURF	HP:0000006	Autosomal dominant inheritance
120766137	HRURF	HP:0003577	Congenital onset
120766137	HRURF	HP:0002231	Sparse body hair
120766137	HRURF	HP:0002209	Sparse scalp hair
120766137	HRURF	HP:0000653	Sparse eyelashes
120766137	HRURF	HP:0045075	Sparse eyebrow
120766137	HRURF	HP:0001596	Alopecia
120766137	HRURF	HP:0030056	Uncombable hair
